Chr	Start	End	Ref	Alt	Gene_region	Gene_symbol	Effect	Mutation_type	SIFT_score	Polyphen2_HDIV_score	gnomAD_exome_ALL	gnomAD_genome_ALL	avsnp147	ExAC_ALL	1000g2015aug_all	esp6500siv2_all	CG69	cosmic70	TCGA_Occurrence	ICGC_Occurrence	CLNDBN	GWAS	MGI_Phenotype	HGMD_GeneBased	Four_DB_Record
chr17	41063253	41063253	G	A	exonic	G6PC	nonsynonymous	SNV	0.002	1.0	1.219e-05	-	rs375212414	1.647e-05	-	7.7e-05	-	COSM5779613	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging	Chronic arthritis & uveitis|Glycogen storage disease 1a|Hypoglycaemia, association with	COSMIC,ICGC,
chr6	47054484	47054484	T	G	intergenic	GPR110,TNFRSF21	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6591053	-	PBCA-DE|1|499|0.00200	-	-	mortality/aging,hematopoietic system phenotype	-,-	COSMIC,ICGC,
chr10	127978106	127978106	G	A	intronic	ADAM12	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6060399	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging	Osteoarthritis in males, association with	COSMIC,ICGC,
chr3	36653815	36653815	C	T	intergenic	STAC,DCLK3	unknown	SNV	-	-	-	-	rs7619871	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	109940484	109940484	G	C	exonic	SORT1	nonsynonymous	SNV	0.0	0.005	2.075e-05	3.559e-05	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Myocardial infarction, association with|LDL-cholesterol levels, association with|Hypercholesterolaemia	ICGC,
chr18	37005389	37005389	G	T	ncRNA_intronic	LINC00669	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr19	997318	997318	G	T	intergenic	WDR18,GRIN3B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,mortality/aging	-,-	ICGC,
chr2	194466922	194466922	C	T	intergenic	PCGEM1,LOC101927406	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25435171	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	COSMIC,ICGC,
chr14	20566830	20566830	C	T	intergenic	OR4L1,OR4K17	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr1	158893170	158893170	A	C	intergenic	MNDA,PYHIN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|2|301|0.00664	-	-	-,-	-,-	ICGC,
chr6	67658042	67658042	A	T	intergenic	SLC25A51P1,BAI3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23290022	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	COSMIC,ICGC,
chr17	26772674	26772674	-	TTT	intergenic	SLC46A1,SLC13A2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|2|67|0.02985	-	-	homeostasis/metabolism phenotype,homeostasis/metabolism phenotype	Folate malabsorption, hereditary,Reduced transport activity|Altered substrate specificity	ICGC,
chr16	26902071	26902071	A	G	intergenic	HS3ST4,C16orf82	unknown	SNV	-	-	-	0.0025	rs111942198	-	0.00159744	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr12	40129692	40129692	G	A	intergenic	C12orf40,SLC2A13	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23856395	-	ORCA-IN|1|178|0.00562	-	-	-,-	-,-	COSMIC,ICGC,
chr20	26119451	26119451	C	T	intergenic	NCOR1P1,MIR663AHG	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr7	8976862	8976862	T	G	intergenic	NXPH1,PER4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	Breast cancer, increased risk  ,-	ICGC,
chr14	45163671	45163671	G	A	intergenic	FSCB,C14orf28	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Tourette syndrome ,Schizophrenia	ICGC,
chr19	12763241	12763241	G	A	exonic	MAN2B1	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM991378	UCEC|1|248|0.00403	UCEC-US|1|250|0.00400	-	-	hematopoietic system phenotype	Mannosidosis, alpha	COSMIC,TCGA,ICGC,
chr3	172711065	172711065	G	T	intronic	SPATA16	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24453071	-	GACA-CN|1|123|0.00813	-	-	-	Globozoospermia	COSMIC,ICGC,
chr9	29423834	29423834	T	C	intergenic	LINGO2,LINC01242	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	CLLE-ES|1|510|0.00196	-	-	-,-	Autism spectrum disorder  |Developmental delay with absent speech,-	ICGC,
chr2	239635228	239635228	T	A	intergenic	LINC01107,TWIST2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Setleis syndrome	ICGC,
chr6	20816232	20816232	C	T	intronic	CDKAL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	cellular phenotype	Hyperinsulism	ICGC,
chr2	21592906	21592906	T	G	intergenic	APOB,LOC645949	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	Hypocholesterolaemia, association with|Hypocholesterolaemia|Hypobetalipoproteinemia-induced nonalcoholic steatohepatitis|Hypobetalipoproteinaemia.|Hypobetalipoproteinaemia|Hypertriglyceridaemia |Hypocholesterolaemia, steatosis and liver cancer|Increased apoB and cholesterol levels, association with|Increased cholesterol levels|Increased LDL cholesterol levels|Ischaemic stroke, association with |Oligoasthenoteratozoospermia, association with|Oxidised low-density lipoprotein levels, association with|Total cholesterol levels, association with|Hypercholesterolemia, association with|Hypercholesterolaemia, association with|Altered APOB levels |Altered binding affinity|Aortic stenosis, association with|Apolipoprotein B deficiency|Cerebrovascular disease events, association with|Coronary artery disease, association with|Coronary heart disease|Coronary heart disease, association with|Hypercholesterolaemia ?|Hypercholesterolaemia|Hepatitis C virus infection, association with|HDL cholesterol, association with |Diabetes, MODY|Decreased bone mineral density,-	ICGC,
chr4	37467173	37467173	C	T	intronic	C4orf19	unknown	SNV	-	-	-	0.2680	rs2973234	-	0.265775	-	0.246	-	-	LAML-KR|1|205|0.00488	-	-	-	-	ICGC,
chr22	32382757	32382757	C	T	intergenic	YWHAH,SLC5A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Glucose / galactose malabsorption|Glucose-galactose malabsorption|Reduced function	ICGC,
chr4	182258343	182258343	C	T	intergenic	LINC00290,MGC45800	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN14453657	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	COSMIC,ICGC,
chr8	144037992	144037992	G	T	intergenic	CYP11B2,LOC100133669	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN28041894	-	PRAD-CA|1|308|0.00325	-	-	mortality/aging,-	Increased 18-hydroxycortisol production|Increased fasting glucose levels, association with|Ischaemic stroke, association with.|Low renin hypertension, association with|Normotensive pregnancy, association with|Primary hypoaldosteronism and moderate bilateral deafness|Raised aldosterone to renin ratio, association|Hypoaldosteronism, primary selective|Hypoaldosteronism|Hypertensive pregnancy, association with|Aldosterone synthase deficiency|Aldosterone synthase deficiency, type 1|Aldosterone synthase deficiency, type 2|Altered steroid production|Corticosterone methyl oxidase deficiency|Higher systolic blood pressure, association with|Hypertension & stroke, increased risk ,-	COSMIC,ICGC,
chr8	88069595	88069595	A	G	intronic	CNBD1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5239497	-	ESAD-UK|1|301|0.00332	-	-	-	-	COSMIC,ICGC,
chr17	3854905	3854905	G	A	exonic	ATP2A3	synonymous	SNV	-	-	4.996e-05	0.0002	rs370397878	5.609e-05	0.000599042	7.7e-05	-	-	-	SKCM-US|1|335|0.00299	-	-	cardiovascular system phenotype	Squamous cell carcinoma of head and neck|Squamous cell carcinoma of head & neck  |Reduced mRNA expression |Diabetes, type 2|Cancer susceptibility|Adenoma of hypophisis|Adenocarcinoma	ICGC,
chr9	74355062	74355062	C	A	exonic	TMEM2	nonsynonymous	SNV	0.192	0.973	-	-	-	-	-	-	-	-	GBMLGG|1|820|0.00122,LGG|1|530|0.00189	-	-	-	-	Hepatitis B, chronic, association with	TCGA,
chr15	97224028	97224028	T	C	intergenic	NR2F2,SPATA8-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Whole body insulin sensitivity, association with|Hypoplastic left heart syndrome|Cardiac abnormalities|Atrioventricular septum defects,-	ICGC,
chr2	408546	408546	G	A	intergenic	FAM150B,TMEM18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,Obesity  	ICGC,
chr2	542457	542457	C	A	intergenic	FAM150B,TMEM18	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15999909	-	PACA-CA|1|268|0.00373	-	-	-,-	-,Obesity  	COSMIC,ICGC,
chr17	55694241	55694241	G	A	intronic	MSI2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	mortality/aging	-	ICGC,
chr1	80485922	80485922	G	A	intergenic	ELTD1,LPHN2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	normal phenotype,mortality/aging	-,Schizophrenia	ICGC,
chrX	29281034	29281034	C	T	intronic	IL1RAPL1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21782809	-	BRCA-EU|1|569|0.00176	-	-	nervous system phenotype	Mental retardation, X-linked|Mental retardation with dysmorphic features|Mental retardation and autism|Intellectual disability, X-linked with dysmorphism|Intellectual disability, X-linked|Intellectual disability, dysmorphic signs, deafness & behavioural problems|Intellectual disability & behavioural problems|Developmental delay, learning disability & microcephaly|Autism spectrum disorder  |Asperger syndrome	COSMIC,ICGC,
chr21	40846836	40846836	C	G	intronic	SH3BGR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr1	190142441	190142441	G	T	intronic	BRINP3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26464012	-	LIAD-FR|1|32|0.03125	-	-	-	-	COSMIC,ICGC,
chr18	54182281	54182281	A	T	intergenic	LOC100505474,TXNL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-UK|1|140|0.00714	-	-	-,-	-,-	ICGC,
chr7	29709248	29709248	A	G	ncRNA_intronic	LOC646762	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr3	103643616	103643616	C	A	intergenic	ZPLD1,MIR548A3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	Cerebral cavernous malformations,-	ICGC,
chrX	153984253	153984253	C	T	intergenic	GAB3,DKC1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	OV-AU|1|93|0.01075	-	-	normal phenotype,integument phenotype	-,Dyskeratosis congenita |Dyskeratosis congenita with Hoyeraal-Hreidarsson syndrome|Dyskeratosis congenita, X-linked|Hoyeraal-Hreidarsson syndrome |Pneumonia, interstitial|Telomere phenotypes	ICGC,
chr4	92653138	92653138	A	C	intergenic	CCSER1,GRID2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8379040	-	MALY-DE|1|241|0.00415	-	-	-,mortality/aging	-,Cerebellar ataxia & tonic upgaze|Cerebellar ataxia and atrophy|Schizophrenia|Spastic paraplegia, complicated	COSMIC,ICGC,
chr19	17036057	17036057	G	T	exonic	CPAMD8	nonsynonymous	SNV	-	0.0	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr3	175009943	175009943	T	A	intronic	NAALADL2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26523365	-	LICA-CN|1|402|0.00249	-	-	-	-	COSMIC,ICGC,
chr6	104426740	104426740	G	A	intergenic	GRIK2,HACE1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	behavior/neurological phenotype,tumorigenesis	Mental retardation, non-syndromic, autosomal recessive,Wilms tumour 	ICGC,
chr10	131761728	131761728	G	T	exonic	EBF3	nonsynonymous	SNV	0.0	1.0	-	-	-	-	-	-	-	COSM3966954	GBMLGG|1|820|0.00122,LGG|1|530|0.00189	LGG-US|1|283|0.00353	-	-	mortality/aging	-	COSMIC,COSMIC,TCGA,ICGC,
chr14	87770191	87770191	G	A	intergenic	LOC283585,GALC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Krabbe disease, association with|Krabbe disease|Glaucoma, primary open-angle|Glaucoma, primary open angle	ICGC,
chr4	177934120	177934120	T	G	intergenic	VEGFC,NEIL3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,immune system phenotype	Lymphoedema, primary, Milroy-like,-	ICGC,
chr5	140531206	140531206	G	A	exonic	PCDHB6	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM6899235	-	-	-	-	-	-	COSMIC,
chr4	158113297	158113297	T	G	intergenic	GLRB,GRIA2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25072901	-	MALY-DE|1|241|0.00415	-	-	mortality/aging,integument phenotype	Hyperekplexia|Intellectual and developmental disabilities,Intellectual disability  	COSMIC,ICGC,
chr8	89521988	89521988	G	A	intergenic	MMP16,RIPK2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,hematopoietic system phenotype	-,Autism spectrum disorder	ICGC,
chr10	22717430	22717430	T	-	intergenic	SPAG6,LOC100499489	unknown	deletion	-	-	-	0.0014	rs374977253	-	-	-	-	-	-	COCA-CN|1|321|0.00312,BTCA-SG|2|71|0.02817	-	-	mortality/aging,-	-,-	ICGC,
chr5	74792447	74792447	G	A	intronic	COL4A3BP	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Intellectual disability  	ICGC,
chr3	37049108	37049108	C	T	intronic	MLH1	unknown	SNV	-	-	-	-	rs267607748	-	-	-	-	-	-	-	Lynch_syndrome	-	integument phenotype	Gastrointestinal cancer.|Gastrointestinal cancer, increased risk|Gastrointestinal cancer  |Gastric cancer |Endometrial cancer.|Endometrial cancer|Differential allelic expression, association with|Cystic sebaceous tumour|Glioblastoma|Increased risk of urothelial cancer in HNPCC patients|Lung cancer, risk, association with|Turcot syndrome|Resistance to therapy, association with|Ovarian cancer |Muir-Torre syndrome|MSI-H colorectal cancer risk|MSI colorectal cencer, increased risk, association with|Lynch syndrome-associated breast cancer.|Lynch syndrome-associated breast cancer|Constitutional mismatch repair deficiency syndrome.|Constitutional mismatch repair deficiency syndrome|Colon cancer/tumour microsatellite instability, association with|Colon cancer  |Carcinoma prostate risk, association with|Cancer, hereditary|Breast carcinoma|Breast cancer.|Breast and colorectal cancer||Colorectal / endometrial cancer|Colorectal cancer |Colorectal cancer, association with|Colorectal cancer.|Colorectal cancer, young-onset|Colorectal cancer, non-polyposis.|Colorectal cancer, non-polyposis with increased risk of urothelial cancer|Colorectal cancer, non-polyposis|Colorectal cancer, MLH1-negative, association with|Colorectal cancer, increased risk|Colorectal cancer, early onset	ClinVar,
chr2	130473065	130473065	C	T	intergenic	LOC151121,LOC389033	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-,-	-,-	ICGC,
chr11	45743916	45743916	C	A	ncRNA_exonic	LOC100507384	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chrX	89604601	89604601	C	T	intergenic	TGIF2LX,PABPC5-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20179264	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	COSMIC,ICGC,
chr2	13776493	13776493	A	T	intergenic	LOC100506474,LINC00276	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	ICGC,
chr3	39679800	39679800	T	C	intergenic	MOBP,MYRIP	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9550628	-	OV-AU|1|93|0.01075	-	-	behavior/neurological phenotype,-	-,-	COSMIC,ICGC,
chr20	22147046	22147046	C	G	intergenic	LINC01432,LINC01427	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr16	12699623	12699623	C	A	intergenic	SNX29,CPPED1	unknown	SNV	-	-	-	0.6974	rs7203009	-	0.76877	-	0.406	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr14	38165984	38165984	A	T	intergenic	FOXA1,SSTR1	unknown	SNV	0.088	-	-	-	-	-	-	-	-	COSM3983243	-	OV-AU|1|93|0.01075	-	-	integument phenotype,vision/eye phenotype	Impaired glucose homeostasis ,-	COSMIC,ICGC,
chr8	137521579	137521579	G	A	intergenic	KHDRBS3,FAM135B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr18	66237351	66237351	T	-	intergenic	LOC643542,TMX3	unknown	deletion	-	-	-	9.73e-05	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312,ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr4	54820791	54820791	C	T	intergenic	LNX1-AS2,RPL21P44	unknown	SNV	-	-	-	0.0023	rs138922392	-	0.00319489	-	-	COSN7640367	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	COSMIC,ICGC,
chr1	246783773	246783773	-	CT	intronic	CNST	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN15652423	-	-	-	-	-	-	COSMIC,
chr2	216024867	216024867	G	A	intergenic	ABCA12,ATIC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Ichthyosis, lamellar, type 2|Ichthyosis, harlequin|Ichthyosis, congenital, autosomal recessive|Ichthyosis|Ichthyosiform erythroderma, congenital, nonbullous|Ichthyosiform erythroderma, congenital|Autism,AICA-Ribosiduria	ICGC,
chr2	130968935	130968935	A	G	intergenic	TUBA3E,CCDC115	unknown	SNV	-	-	-	0.0022	rs2599932	-	-	-	-	COSN395083	-	LAML-KR|1|205|0.00488,PACA-AU|1|391|0.00256,LUSC-KR|3|170|0.01765,PBCA-DE|1|499|0.00200	-	-	-,-	-,-	COSMIC,COSMIC,COSMIC,ICGC,
chr7	103278154	103278154	A	C	intronic	RELN	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	integument phenotype	Schizophrenia, association with  |Schizophrenia|Reduced expression|Lissencephaly with cerebellar hypoplasia|Developmental delay & mental retardation|Autism spectrum disorder|Autism	ICGC,
chr22	43211278	43211278	T	C	intronic	ARFGAP3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr18	27933858	27933858	A	C	intergenic	MIR302F,DSC3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,integument phenotype	-,Hypotrichosis & recurrent skin vesicles	ICGC,
chr3	182127891	182127891	T	C	intergenic	LINC01206,FLJ46066	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr11	42471869	42471869	T	A	intergenic	LOC100507205,HNRNPKP3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	-,-	ICGC,
chr6	25797247	25797247	C	T	intronic	SLC17A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Gout, association with|Uric acid concentration, association with	ICGC,
chr6	67732965	67732965	A	T	intergenic	SLC25A51P1,BAI3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7893661	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	COSMIC,ICGC,
chr6	95448286	95448286	C	T	intergenic	TSG1,MANEA-AS1	unknown	SNV	-	-	-	3.233e-05	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,-	-,-	ICGC,
chr1	237649217	237649217	G	A	intronic	RYR2	unknown	SNV	-	-	-	3.23e-05	rs765437201	-	-	-	-	COSN7987660	-	PACA-CA|1|268|0.00373	-	-	mortality/aging	Long QT syndrome|Sudden cardiac death|Sudden cardiac death.|Sudden infant death syndrome|Sudden unexplained death  |Ventricular arrhythmia, in chronic heart failure, association with.|Ventricular tachycardia, polymorphic|Left ventricular noncompaction  |Left ventricular non-compaction.|Catecholaminergic polymorphic ventricular tachycardia.|Catecholaminergic polymorphic ventricular tachycardia|Cardiac arrhythmia|Arrhythmogenic right ventricular dysplasia/cardiomyopathy|Arrhythmogenic right ventricular dysplasia type 2|Arrhythmogenic right ventricular cardiomyopathy, association with|Arrhythmogenic right ventricular cardiomyopathy|Altered channel function	COSMIC,ICGC,
chr3	25988500	25988500	G	A	intergenic	LINC00692,LRRC3B	unknown	SNV	-	-	-	0.0001	rs533716798	-	0.000199681	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,nervous system phenotype	-,-	ICGC,
chr4	167320251	167320252	TA	-	intergenic	TLL1,SPOCK3	unknown	deletion	-	-	-	0.0001	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	integument phenotype,-	Hyperinsulinism|Atrial septal defect  ,-	ICGC,
chr16	7059952	7059952	A	G	intronic	RBFOX1	unknown	SNV	-	-	-	9.686e-05	-	-	-	-	-	COSN25530037	-	MALY-DE|1|241|0.00415	-	-	mortality/aging	Muscular and feet abnormalities|Mental retardation|Epilepsy, rolandic  |Epilepsy|Developmental delay, facial dysmorphism  |Developmental delay and transposition of the great arteries|Developmental delay and diplegia|Developmental delay and craniosynostosis|Developmental delay  |Cardiac defects|Cardiac abnormalities, micrognathia and scoliosis|Autism spectrum disorder|Autism|Attention deficit hyperactivity disorder 	COSMIC,ICGC,
chr22	50546632	50546632	C	T	exonic	MOV10L1	synonymous	SNV	-	-	4.068e-06	-	rs774769069	8.412e-06	-	-	-	COSM1566402	COADREAD|1|489|0.00204,READ|1|122|0.00820	READ-US|1|94|0.01064	-	-	reproductive system phenotype	-	COSMIC,COSMIC,TCGA,ICGC,
chr4	19996321	19996321	C	T	intergenic	LCORL,SLIT2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Schizophrenia  	ICGC,
chr20	33296647	33296647	G	T	exonic	TP53INP2	nonsynonymous	SNV	0.0	1.0	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr13	63249943	63249943	T	C	ncRNA_intronic	LINC00448	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-	-	ICGC,
chr21	11059130	11059130	G	C	intronic	BAGE,BAGE2,BAGE3,BAGE4,BAGE5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19719319	-	COCA-CN|1|321|0.00312	-	-	-,-,-,-,-	-,-,-,-,-	COSMIC,ICGC,
chr10	102953835	102953835	G	A	ncRNA_exonic	LOC101927396	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr3	76701699	76701699	A	G	intergenic	ZNF717,ROBO2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15749385	-	LIRI-JP|1|258|0.00388	-	-	-,mortality/aging	Potential protein deficiency,Autism spectrum disorder  |Urinary tract anomalies|Vesicoureteral reflux	COSMIC,ICGC,
chr12	75804306	75804306	C	A	exonic	GLIPR1L2	synonymous	SNV	-	-	-	-	rs776332299	-	-	-	-	COSM5616597	-	-	-	-	-	Schizophrenia  	COSMIC,COSMIC,
chr5	178525804	178525804	C	T	intergenic	ZNF354C,ADAMTS2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332,NKTL-SG|1|50|0.02000	-	-	-,integument phenotype	-,Ehlers-Danlos syndrome VIIc	ICGC,
chr3	194693653	194693653	G	A	intergenic	LOC100507391,XXYLT1	unknown	SNV	-	-	-	-	rs756078614	-	-	-	-	-	-	COCA-CN|1|321|0.00312,PBCA-DE|1|499|0.00200	-	-	-,-	-,-	ICGC,
chr4	69268183	69268183	C	T	intergenic	YTHDC1,TMPRSS11E	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Schizophrenia  ,-	ICGC,
chr4	109626431	109626431	A	T	intergenic	OSTC,ETNPPL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	ICGC,
chr8	81528321	81528321	C	T	intergenic	ZBTB10,ZNF704	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8104098	-	PACA-AU|1|391|0.00256	-	-	-,homeostasis/metabolism phenotype	-,-	COSMIC,ICGC,
chr15	61680750	61680750	C	G	intergenic	RORA,VPS13C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,-	Obesity,Schizophrenia  	ICGC,
chr1	19503116	19503116	C	T	exonic	UBR4	unknown	SNV	0.028	0.956	-	-	-	-	-	-	-	COSM5378982	-	-	-	-	mortality/aging	Episodic ataxia   	COSMIC,COSMIC,COSMIC,COSMIC,
chr4	182144748	182144748	T	C	intergenic	LINC00290,MGC45800	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr13	46097168	46097168	G	T	intronic	COG3	unknown	SNV	-	-	-	0.3187	rs1536212	-	0.285343	-	0.232	-	-	ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488	-	-	-	-	ICGC,
chr20	56638837	56638840	GTTT	-	intergenic	MIR4532,C20orf85	unknown	deletion	-	-	-	-	-	-	-	-	0.109	-	-	LMS-FR|4|67|0.05970	-	-	-,-	-,-	ICGC,
chr5	168756945	168756945	G	A	intergenic	SLIT3,SPDL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,-	Schizophrenia  |Major depressive disorder |Autism spectrum disorder,-	ICGC,
chr5	152967417	152967417	A	C	intronic	GRIA1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Intellectual disability  	ICGC,
chr11	10773072	10773072	G	T	intronic	CTR9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr4	138887629	138887629	C	A	intergenic	PCDH18,LINC00616	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	Intellectual disability  ,-	ICGC,
chr19	21657185	21657185	C	T	intergenic	ZNF493,LINC00664	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr2	197530924	197530924	-	TTA	intronic	CCDC150	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	OV-AU|1|93|0.01075	-	-	-	-	ICGC,
chr8	97917071	97917071	T	G	intronic	CPQ	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6371346	-	LIRI-JP|1|258|0.00388	-	-	-	Mild mental retardation and generalised overgrowth	COSMIC,ICGC,
chr15	40229809	40229809	T	G	intronic	EIF2AK4	unknown	SNV	-	-	-	9.721e-05	rs527964676	-	0.000199681	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Pulmonary veno-occlusive disease|Pulmonary capillary hemangiomatosis	ICGC,
chr13	100709658	100709658	G	A	intergenic	LINC00554,PCCA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Propionic acidaemia	ICGC,
chr10	82617091	82617091	C	G	intergenic	SH2D4B,NRG3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Schizophrenia, association with |Increased ventrolateral PFC activation|Hirschsprung disease  	ICGC,
chr13	65910858	65910858	G	A	intergenic	OR7E156P,PCDH9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr12	114632444	114632444	G	A	intergenic	RBM19,TBX5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,mortality/aging	-,Atrial septal defects & postaxial hexodactyly|Congenital heart disease |Congenital heart disease.|Holt-Oram syndrome|Holt-Oram syndrome & ulnar-mammary syndrome	ICGC,
chr3	38796779	38796779	-	A	intronic	SCN10A	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	integument phenotype	Atrial fibrillation & slow ventricular rates|Peripheral neuropathy, painful|QRS interval, association with |Small fibre neuropathy	ICGC,
chr1	158287136	158287136	TA	GT	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr3	168889614	168889614	G	A	intronic	MECOM	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging	Decreased expression|Thrombocytopaenia with aplastic anaemia	ICGC,
chr4	98439671	98439671	G	T	intergenic	STPG2-AS1,STPG2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16080207	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	COSMIC,ICGC,
chr1	169458910	169458910	T	A	intergenic	SLC19A2,F5	unknown	SNV	-	-	-	0.0653	rs10919177	-	0.052516	-	0.080	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,integument phenotype	TRMA syndrome with atrial standstill|Megaloblastic anaemia, thiamine responsive, without diabetes|Megaloblastic anaemia, thiamine responsive, with psychiatric manifestations|Megaloblastic anaemia, thiamine responsive|Diabetes, permanent neonatal,Preterm delivery, increased risk, association with|Placental abruption, association with |Phenotype modification in Glanzmann's thrombasthaenia, association|Myocardial infarction, increased risk|Myocardial infarction ?|Retinal vascular occlusion|Thrombosis|Thrombosis, increased risk|Thrombosis, increased risk, association with|Venous thromboembolism, association with|Venous thromboembolism, in Caucasians, association with|Venous thromboembolism, increased risk|Miscarriage / APC resistance, association with|Meta-analysis|Acute rejection in kidney transplant recipients|Altered FV1/FV2 ratio|Coronary artery disease, non-diabetic, increased risk|Deep vein thrombosis  |Diabetic nephropathy, protection against|Enhances fibrin formation in response to endotoxin|Factor V deficiency|Increased sperm count, association with|Intraventricular hemorrhage, increased risk|Ischaemic colitis|Late pregnancy loss, association with|Livedoid vasculopathy.	ICGC,
chr7	14050617	14050617	G	C	intergenic	ETV1,DGKB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging,behavior/neurological phenotype	-,-	ICGC,
chr3	80562831	80562831	A	G	intergenic	ROBO1,GBE1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	mortality/aging,mortality/aging	Developmental dyslexia ,Potential protein deficiency|Polyglucosan body disease, relapsing-remitting form|Polyglucosan body disease, adult|Lethal multiple pterygium syndrome|Glycogen storage disease 4, non-lethal neuromuscular|Glycogen storage disease 4, neonatal|Glycogen storage disease 4|Autism spectrum disorder|Adult polyglucosan body disease	ICGC,
chr2	170306355	170306355	G	T	intergenic	LRP2,BBS5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Prostate cancer  |Intellectual disability  |HDL cholesterol, association with |Facio-oculo-acoustico-renal syndrome|Donnai-Barrow syndrome|Congenital heart disease |Colorectal cancer, increased risk, association with|Autism |Alzheimer disease, increased risk, association with,Retinitis pigmentosa|Phenotype modifier|Choroideremia|Bardet-Biedl syndrome	ICGC,
chr6	33033499	33033499	G	A	intronic	HLA-DPA1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr20	4471542	4471542	G	A	intergenic	ADRA1D,PRNP	unknown	SNV	-	-	-	0.0685	rs6107470	-	0.0830671	-	0.130	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,mortality/aging	-,Pan-autonomic failure, sensory neuropathy & cognitive impairment|Leg hyperreflexia in Gerstmann-Sträussler-Scheinker syndrome|Gerstmann-Sträussler-Scheinker syndrome.|Gerstmann-Sträussler-Scheinker syndrome and Creutzfeldt-Jakob disease, rapidly progressive.|Gerstmann-Sträussler-Scheinker syndrome  presenting as familial Creutzfeldt-Jakob disease|Gerstmann-Straeussler-Scheinker syndrome|Gerstmann-Straeussler syndrome, association with|Gerstmann-Straeussler syndrome|Parkinson disease  |Presenile dementia and hypokinetic syndrome|Wilson disease, neurological, modifier of|Spongiform encephalopathy, familial|Schizoaffective disorder|PrP cerebral amyloid angiopathy|Progressive ataxo-spastic syndrome with mild cognitive impairment|Prion disease, resistance to, association with|Prion disease|Primary dementia with prominent frontotemporal signs|Gastric cancer|Fatal insomnia|Creutzfeldt-Jakob syndrome|Creutzfeldt-Jakob disease, slowly progressive.|Creutzfeldt-Jakob disease, rapidly progressive.|Creutzfeldt-Jakob disease, rapidly progressive, and Creutzfeldt-Jakob disease, slowly progressive.|Creutzfeldt-Jakob disease risk, association with|Atypical parkinsonism.|Alzheimer disease risk|Alzheimer disease|Creutzfeldt-Jakob syndrome, protection, association with|Creutzfeldt-Jakob syndrome, sporadic, association|Fatal familial insomnia, association with|Fatal familial insomnia|Encephalopathy, familial|Diarrhoea, autonomic failure & neuropathy|Dementia, young-onset|Dementia, neurodegenerative|Dementia|Creutzfeldt-Jakob syndrome.	ICGC,
chr16	65844486	65844486	C	T	intergenic	LINC00922,CDH5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|3|183|0.01639	-	-	-,integument phenotype	-,Autism|Haemorrhagic fever with renal syndrome, reduced severity, association with|Schizophrenia	ICGC,
chr1	148660816	148660816	T	C	ncRNA_intronic	NBPF25P	unknown	SNV	-	-	-	0.0494	rs9438234	-	0.0832668	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-	-	ICGC,
chr14	43310092	43310092	T	G	intergenic	LRFN5,FSCB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	Short stature|Developmental delay, seizures & learning problems ,Tourette syndrome 	ICGC,
chr8	20316537	20316537	A	C	intergenic	LZTS1-AS1,LOC286114	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr12	6878638	6878638	T	C	intronic	PTMS	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr10	59714205	59714205	A	C	intergenic	MIR3924,IPMK	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,-	ICGC,
chr4	108548844	108548844	G	A	intronic	PAPSS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr12	74448030	74448030	A	G	intergenic	LOC101928137,LOC100507377	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	ICGC,
chr9	13050293	13050293	G	A	intergenic	LURAP1L,MPDZ	unknown	SNV	-	-	-	0.3671	rs10960915	-	0.43131	-	0.319	COSN18905850	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,Retinitis pigmentosa |Leber congenital amaurosis  |Hydrocephalus|Autism	COSMIC,COSMIC,ICGC,
chr14	63045440	63045440	A	T	intergenic	LINC00644,KCNH5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,behavior/neurological phenotype	-,Epileptic encephalopathy 	ICGC,
chr13	42604532	42604532	C	T	intergenic	VWA8-AS1,DGKH	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr12	129694154	129694154	C	T	exonic	TMEM132D	nonsynonymous	SNV	0.001	1.0	-	-	-	-	-	-	-	COSM5840518	-	-	-	-	-	Panic disorder  	COSMIC,
chr5	29864724	29864724	G	T	intergenic	LOC101929681,CDH6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,renal/urinary system phenotype	-,-	ICGC,
chr12	125398075	125398075	C	T	exonic	UBC	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM1299103	BLCA|1|396|0.00253	BLCA-US|1|133|0.00752	-	-	mortality/aging	-	COSMIC,TCGA,ICGC,
chr5	166399049	166399049	G	A	intergenic	CTB-7E3.1,TENM2	unknown	SNV	-	-	-	0.0032	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr1	174387776	174387776	T	G	intronic	RABGAP1L	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19410771	-	-	-	-	normal phenotype	-	COSMIC,
chr5	19848864	19848864	G	A	intronic	CDH18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Anorectal malformation	ICGC,
chr3	75788150	75788150	-	G	exonic	ZNF717	frameshift	insertion	-	-	-	-	rs143871834	-	-	-	-	COSM5713088	-	-	-	-	-	Potential protein deficiency	COSMIC,COSMIC,
chr7	23584120	23584120	G	A	intergenic	TRA2A,CLK2P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Colorectal cancer ,-	ICGC,
chr18	7100770	7100770	G	A	intronic	LAMA1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	High myopia, increased risk, association with|Intellectual disability  |Pancreatic cancer 	ICGC,
chr5	160914922	160914922	G	T	intronic	GABRB2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24548008	-	GACA-CN|1|123|0.00813	-	-	skeleton phenotype	-	COSMIC,ICGC,
chrX	2983126	2983126	C	G	intronic	ARSF	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22395400	-	BRCA-EU|1|569|0.00176	-	-	-	Autism spectrum disorder|Potential protein deficiency	COSMIC,ICGC,
chr2	161138785	161138785	G	A	intronic	RBMS1	unknown	SNV	-	-	8.206e-06	-	-	-	-	-	-	COSM1590798	UCEC|1|248|0.00403	COCA-CN|1|321|0.00312,UCEC-US|1|250|0.00400	-	-	mortality/aging	-	COSMIC,TCGA,ICGC,
chr20	62095675	62095675	G	A	intronic	KCNQ2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Seizures, benign neonatal-infantile.|Seizures, benign neonatal-infantile|Seizures, benign neonatal|Seizures, benign infantile|Peripheral nerve hyperexcitability|Ohtahara/West syndrome|Ohtahara syndrome|Infantile seizures|Epileptic encephalopathy, neonatal|Autism spectrum disorder|Epilepsy, benign neonatal|Epilepsy, rolandic & benign neonatal convulsions|Epilepsy, rolandic without neonatal seizures|Epileptic encephalopathy, early onset|Epileptic encephalopathy, early-onset	ICGC,
chr5	29480919	29480919	C	T	intergenic	LOC101929681,CDH6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,renal/urinary system phenotype	-,-	ICGC,
chr21	18093265	18093265	T	A	intergenic	LINC00478,C21orf37	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21111930	-	BRCA-UK|1|141|0.00709,BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr4	17459290	17459290	G	A	intergenic	LDB2,QDPR	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22402701	-	BRCA-EU|1|569|0.00176	-	-	normal phenotype,skeleton phenotype	-,Dihydropteridine reductase deficiency|Phenylketonuria	COSMIC,ICGC,
chr4	189107089	189107089	-	ATCTGTCT	intergenic	TRIML1,LINC01060	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr18	44956027	44956027	T	A	intergenic	SKOR2,SMAD2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9335866	-	OV-AU|1|93|0.01075	-	-	mortality/aging,integument phenotype	-,Congenital heart defects |Congenital heart disease 	COSMIC,ICGC,
chr1	153979442	153979442	-	TA	intronic	NUP210L	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	reproductive system phenotype	-	ICGC,
chr6	21987410	21987410	G	A	ncRNA_intronic	CASC15	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr8	99925281	99925281	G	C	intronic	STK3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	-	ICGC,
chr6	154441045	154441045	T	C	UTR3	OPRM1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6309746	-	LIRI-JP|1|258|0.00388	-	-	integument phenotype	Striatal dopamine response to alcohol|Post-operative pain response, association with|Pressure pain sensitivity in females, association with|Proinflammatory cytokine levels and health perception, association with|Reduced agonist potency|Reduced agonist potency, association with|Reduced expression|Reduced promoter activity|Smoking behaviour, increased susceptibility|Pain perception, association with|Increased promoter activity|Impaired receptor signalling|Addiction, association with|Altered beta-endorphin binding, association with|Altered reinforcement learning, association with|Altered trafficking and/or signalling|Decreased body mass index, association with|Decreased receptor expression|Drug intake, association with |Epilepsy|Epilepsy, association with 	COSMIC,ICGC,
chr4	32844355	32844355	C	T	intergenic	PCDH7,NONE	unknown	SNV	-	-	-	0.2178	rs150196231	-	0.33127	-	0.217	-	-	LAML-KR|1|205|0.00488	-	-	-,-	-,-	ICGC,
chr12	57138886	57138886	G	A	intronic	PRIM1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr10	31504952	31504952	C	T	intergenic	ZNF438,ZEB1-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr1	156105912	156105912	G	C	exonic	LMNA	nonsynonymous	SNV	0.001	1.0	-	-	-	-	-	-	-	-	-	-	Cardiovascular_phenotype	-	integument phenotype	Muscular dystrophy|Muscular dystrophy & peripheral neuropathy|Muscular dystrophy and peripheral neuropathy|Muscular dystrophy, congenital|Muscular dystrophy, Emery-Dreifuss|Muscular dystrophy, Emery-Dreifuss, neurogenic|Muscular dystrophy, Emery-Dreifuss.|Muscular dystrophy, lamin A/C-related|Muscular dystrophy, limb girdle|Muscle atrophy|Multisystem disorder and limb girdle muscular dystrophy|Modulated interaction with Nesprin-2|Lipodystrophy, generalised|LMNA-associated cardiocutaneous progeria|LMNA-myopathy with congenital fibre type disproportion|Mandibuloacral dysplasia|Mandibuloacral dysplasia & Hutchinson-Gilford progeria syndrome, overlapping features|Mandibuloacral dysplasia & progeria syndrome|Metabolic disease|Metabolic laminopathy|Metabolic syndrome, association with|Muscular dystrophy, limb girdle 1B|Muscular dystrophy, limb girdle 1B / Isolated neck rigidity|Muscular dystrophy, limb girdle.|Restrictive dermopathy|Seip syndrome|Skeletal and cardiac muscular dystrophy|Spinal muscular atrophy|Tight skin contracture syndrome|Ventricular arrhythmia |Ventricular tachycardia |Werner syndrome|Werner syndrome with ischemic disease|Progeroid syndrome, atypical |Progeroid laminopathy with restrictive dermopathy-like features.|Muscular dystrophy, LMNA-related |Myopathy, early-onset and progeria|Myopathy, infantile inflammatory|Obesity, generalised, association with|Obstructive sleep apnea in familial partial lipodystrophy type 2|Ovarian failure and dilated cardiomyopathy|Partial lipodystrophy, atypical|Partial lipodystrophy, Dunnigan|Partial lipodystrophy, type 2|Werner syndrome, atypical|Lipodystrophy and/or insulin-resistance|Aortic hypoplasia in Emery-Dreifuss muscular dystrophy.|Cardiac conduction system disease|Cardiac disease  |Cardiac disease.|Cardiocutaneous progeria with Werner syndrome features|Cardiolaminopathy|Cardiomyopathy with advanced AV block|Cardiomyopathy, dilated|Cardiomyopathy, dilated & cardiac conduction disease|Cardiomyopathy, dilated with limb-girdle muscle involvement|Cardiac conduction disease, atrial arrhythmias & sudden death|Cardiac conduction disease|Apical left ventricular aneurysm|Arrhythmogenic right ventricular cardiomyopathy|Atherosclerosis, diabetes mellitus & steatosis hepatis|Atrial fibrillation |Atrioventricular block|Atypical progeria syndrome|autosomal recessive Emery Dreifuss muscular dystrophy|Cardiac abnormalities with/without skeletal muscle compromise|Cardiac conduction defects|Cardiomyopathy, dilated with partial atrial standstill|Cardiomyopathy, dilated, with conduction defect, type 1A|Cardiomyopathy, dilated?|Hutchinson-Gilford progeria syndrome/mandibuloacral dysplasia|Hutchinson-Gilford progeria with strokes|Inflammatory myopathy|Insulin resistance syndrome, type A|Laminopathy|Limb girdle muscular dystrophy, type 1B|Lipodystrophic laminopathy|Lipodystrophy & cardiomyopathy|Lipodystrophy and insulin-resistance|Hutchinson-Gilford progeria syndrome.|Hutchinson-Gilford progeria syndrome|Heart-hand syndrome|Cardiomyopathy, dilated.|Cardiomyopathy, hypertrophic ?|Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease 2|Coronary artery disease, Werner syndrome-like |Dilated cardiomyopathy / ventricular arrhythmia|Dilated cardiomyopathy and limb-girdle muscular dystrophy 1B|Fibre type disproportion, congenital|Focal segmental glomerulosclerosis.	ClinVar,
chr3	172706370	172706370	G	A	intronic	SPATA16	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	Globozoospermia	ICGC,
chr7	63614171	63614171	A	C	intergenic	ZNF727P,ZNF735P	unknown	SNV	-	-	-	0.0600	rs73362299	-	0.0455272	-	0.029	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr20	39198117	39198117	A	G	intergenic	LINC01370,MAFB	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15096535	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,Multicentric carpotarsal osteolysis|Intellectual and developmental disabilities|Cleft lip  	COSMIC,ICGC,
chr5	1376830	1376830	T	C	intergenic	CLPTM1L,SLC6A3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,integument phenotype	Cleft lip and palate, syndromic & neuro-psychomotor developmental delay,Dystonia-parkinsonism, infantile|Idiopathic epilepsy, generalised, association with|Idiopathic intellectual disability, association with|Mood instability in bipolar disorder patients, association with|Parkinson disease, neuroprotection in East Asians, association with|Parkinson disease, protection against, association |Parkinson disease, susceptibility to|Posttraumatic stress disorder, association with.|Schizophrenia, association with|Short-term response to smoking cessation, association|Dorsal anterior cingulate function in ADHD, association with|Dopamine transporter deficiency syndrome|Alcoholism, association with|Attention deficit hyperactivity disorder, association with|Attention deficit hyperactivity disorder, association with.|Attention-deficit hyperactivity disorder, association|Attention-deficit hyperactivity disorder, association with|Attention-deficit hyperactivity disorder, in adults, association with.|Attention-deficit/hyperactivity disorder|Autism|Bipolar affective disorder|Cocaine dependence, association with	ICGC,
chr1	179629454	179629454	A	T	intronic	TDRD5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1415558	-	LIRI-JP|1|258|0.00388	-	-	reproductive system phenotype	-	COSMIC,ICGC,
chr16	72614735	72614735	C	T	intergenic	PMFBP1,ZFHX3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	Schizophrenia,Prostate cancer risk, association with	ICGC,
chr16	53020607	53020607	G	A	intergenic	CASC16,CHD9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	UTCA-FR|1|20|0.05000	-	-	-,-	-,-	ICGC,
chr12	77031331	77031331	C	T	intergenic	OSBPL8,ZDHHC17	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	CLLE-ES|1|510|0.00196	-	-	-,behavior/neurological phenotype	-,-	ICGC,
chr15	98830180	98830180	T	A	intergenic	LOC101927332,FAM169B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	115403774	115403774	-	TAAA	intronic	DPP10	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	Autism spectrum disorder	ICGC,
chr4	174829353	174829353	A	G	intergenic	HAND2-AS1,FBXO8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr7	145578691	145578691	G	T	intergenic	TPK1,CNTNAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21848286	-	BRCA-EU|1|569|0.00176	-	-	-,integument phenotype	Thiamine pyrophosphokinase deficiency|Leigh-like disease|Colorectal cancer, increased risk, association with |Autism,Gilles de la Tourette syndrome|Intellectual disability  |Learning disability & speech problems|Mental retardation |Mental retardation, Pitt-Hopkins-like|Multiple congenital anomalies  |Seizures, neonatal |Speech delay  |Stuttering |Epileptic encephalopathy  |Epilepsy and schizophrenia|Autism|Autism spectrum disorder |Autism spectrum disorder, modifier of|Childhood apraxia of speech|Cortical dysplasia-focal epilepsy syndrome|Developmental and/or speech and/or behavioural problems|Developmental delay  |Developmental delay & dysmorphic features|Dyslexia 	COSMIC,ICGC,
chr8	112827984	112827984	G	A	intergenic	KCNV1,CSMD3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,-	-,Schizophrenia  |Colorectal cancer 	ICGC,
chr2	138744250	138744250	G	T	intronic	HNMT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	Urticaria, chronic, aspirin intolerant, reduced risk, association with|Parkinson disease, association with|Non-atopic dermatitis, association with|Lower HNMT level, association with|Essential tremor, association with|Atopic dermatitis, reduced risk|Atopic dermatitis, association with|Asthma, association with	ICGC,
chr8	132232972	132232972	C	A	intergenic	ADCY8,EFR3A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	integument phenotype,-	Myocardial infarction  ,Autism|Potential protein deficiency	ICGC,
chr17	61326933	61326933	A	C	intronic	TANC2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9319808	-	OV-AU|1|93|0.01075	-	-	mortality/aging	Intellectual disability  |Schizophrenia	COSMIC,ICGC,
chr11	105469342	105469342	G	A	intergenic	CARD18,GRIA4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,integument phenotype	-,-	ICGC,
chr9	73797024	73797024	A	G	intergenic	TRPM3,TMEM2	unknown	SNV	-	-	-	0.4292	rs4744623	-	0.446286	-	0.529	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,-	Schizophrenia  |Mental retardation,Hepatitis B, chronic, association with	ICGC,
chr14	78819839	78819839	C	G	intergenic	NONE,NRXN3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-,mortality/aging	-,Alcohol dependence, association with|Autism spectrum disorder  	ICGC,
chr16	62582497	62582497	C	T	intergenic	CDH8,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype,-	Learning disability  |Autism & learning disability ,-	ICGC,
chr15	78889631	78889631	G	A	intronic	CHRNA3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	mortality/aging	Smoking intensity, association with|Nicotine dependence, reduced risk|Nicotine dependence, association with |Lung cancer, increased risk, association with|Cocaine dependence, association with|Chronic obstructive pulmonary disease, susceptibility to|Chronic obstructive pulmonary disease, association with|Altered receptor function|Alcohol dependence, association with|Alcohol and tobacco use, age of initiation, association with	ICGC,
chr8	79076712	79076716	ATAAT	-	intergenic	PEX2,PKIA	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	mortality/aging,normal phenotype	Zellweger syndrome|Refsum disease, infantile|Peroxisome biogenesis disorder|Cerebellar ataxia, autosomal recessive,-	ICGC,
chr16	6784525	6784525	C	T	intronic	RBFOX1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Muscular and feet abnormalities|Mental retardation|Epilepsy, rolandic  |Epilepsy|Developmental delay, facial dysmorphism  |Developmental delay and transposition of the great arteries|Developmental delay and diplegia|Developmental delay and craniosynostosis|Developmental delay  |Cardiac defects|Cardiac abnormalities, micrognathia and scoliosis|Autism spectrum disorder|Autism|Attention deficit hyperactivity disorder 	ICGC,
chr21	22113803	22113803	T	A	intergenic	LOC101927797,LINC00320	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19060081	-	CLLE-ES|1|510|0.00196	-	-	-,-	-,-	COSMIC,ICGC,
chr7	83297587	83297587	G	A	intergenic	SEMA3E,SEMA3A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6894690	-	LIRI-JP|1|258|0.00388	-	-	vision/eye phenotype,mortality/aging	CHARGE syndrome|Tetralogy of Fallot,Unexplained cardiac arrest, association with|Short stature & multiple congenital anomalies|Kallmann syndrome|Hirschsprung disease   |Crypt frequency in the iris, association with	COSMIC,ICGC,
chr2	129843425	129843425	C	T	intergenic	LOC101927881,LOC151121	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr4	161650926	161650926	T	G	intergenic	RAPGEF2,FSTL5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16181950	-	PRAD-CA|1|308|0.00325	-	-	integument phenotype,-	-,Schizophrenia  |Rolandic epilepsy 	COSMIC,ICGC,
chr6	13615826	13615826	A	T	exonic	NOL7	nonsynonymous	SNV	0.035	0.267	-	-	-	-	-	-	-	-	LUAD|1|543|0.00184	-	-	-	-	-	TCGA,
chr4	71938903	71938903	C	T	intergenic	DCK,SLC4A4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype,integument phenotype	Reduced activity,Reduced transport activity|Proximal renal tubular acidosis|Migraine 	ICGC,
chr10	52196779	52196779	G	A	intronic	SGMS1	unknown	SNV	-	-	-	3.229e-05	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	mortality/aging	-	ICGC,
chr17	72073477	72073477	-	GACCTCC	intergenic	LINC00469,RPL38	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,integument phenotype	-,-	ICGC,
chrX	137372602	137372602	G	A	intergenic	ZIC3,LINC00889	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5461609	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging,-	Situs abnormality|Heterotaxy|Congenital heart disease |Cardiac malformation,-	COSMIC,ICGC,
chr9	88996442	88996442	G	C	intergenic	ZCCHC6,GAS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,Holoprosencephaly-like phenotype |Holoprosencephaly	ICGC,
chr10	62090387	62090387	A	T	intronic	ANK3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21368827	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging	Potential protein deficiency|Intellectual disability, ADHD-like syndrome & behavioural problems|Autism spectrum disorder|Autism|Attention deficit hyperactivity disorder, autism & sleeping problems	COSMIC,ICGC,
chrX	54503666	54503666	C	T	intronic	FGD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	Mental retardation, X-linked|Intellectual disability, nonsyndromic|Attention deficit hyperactivity disorder|Aarskog-Scott syndrome	ICGC,
chr17	52372628	52372637	AAACATGTGC	-	intergenic	KIF2B,TOM1L1	unknown	deletion	-	-	-	-	-	-	-	-	-	COSN22851397	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr4	58471427	58471427	A	T	intergenic	IGFBP7-AS1,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22699302	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr2	229120827	229120827	G	A	intergenic	SPHKAP,PID1	unknown	SNV	-	-	-	0.0009	rs552195426	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,Anorectal malformation	ICGC,
chr7	31816124	31816124	G	A	intronic	PDE1C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	taste/olfaction phenotype	Developmental delay  	ICGC,
chr2	222424474	222424474	G	A	intronic	EPHA4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	reproductive system phenotype	Amyotrophic lateral sclerosis, reduced disease severity	ICGC,
chr13	65544925	65544925	T	A	intergenic	OR7E156P,PCDH9	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25254938	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	COSMIC,ICGC,
chr4	39148102	39148102	-	T	ncRNA_intronic	MIR1273H	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-	-	ICGC,
chrX	76433307	76433307	CC	AT	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr1	222260894	222260894	G	A	intergenic	DUSP10,HHIPL2	unknown	SNV	-	-	-	9.685e-05	-	-	-	-	-	COSN16807844	-	PACA-CA|1|268|0.00373	-	-	hematopoietic system phenotype,-	-,Potential protein deficiency	COSMIC,ICGC,
chr11	134546954	134546954	G	A	intergenic	LOC283177,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr7	45056945	45056945	C	A	intronic	CCM2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1349963	-	-	-	-	integument phenotype	Cerebral cavernous malformations|Phenotype modifier, association with 	COSMIC,
chr8	131992770	131992770	G	A	intronic	ADCY8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	integument phenotype	Myocardial infarction  	ICGC,
chr3	18590856	18590856	C	A	intergenic	SATB1,KCNH8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	-,-	ICGC,
chr19	50412090	50412090	G	A	exonic	NUP62	synonymous	SNV	-	-	-	-	-	-	-	-	-	-	DLBC|1|48|0.02083	-	-	-	mortality/aging	Striatonigral degeneration, infantile	TCGA,
chr9	35513186	35513186	-	TTTG	intronic	RUSC2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr2	209067805	209067805	A	T	intergenic	C2orf80,IDH1	unknown	SNV	-	-	-	0.0004	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,hematopoietic system phenotype	46,XY gonadal dysgenesis,Metaphyseal chondromatosis with increased urinary excretion of D-2-hydroxyglutarate|Osteoarthritis, early-onset	ICGC,
chr16	62991554	62991554	G	T	intergenic	CDH8,CDH11	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	integument phenotype,integument phenotype	Learning disability  |Autism & learning disability ,-	ICGC,
chr10	25855841	25855841	G	A	intronic	GPR158	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr10	124978379	124978379	G	A	intergenic	BUB3,GPR26	unknown	SNV	-	-	-	0.1352	rs11248456	-	0.0738818	-	0.174	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,behavior/neurological phenotype	Variegated aneuploidy,-	ICGC,
chr4	88429966	88429966	-	GTGT	intronic	SPARCL1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	vision/eye phenotype	-	ICGC,
chr2	193905936	193905936	G	C	intergenic	PCGEM1,LOC101927406	unknown	SNV	-	-	-	0.0001	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr7	86258542	86258542	A	T	intergenic	SEMA3D,GRM3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8044225	-	PACA-AU|1|391|0.00256	-	-	-,behavior/neurological phenotype	Total anomalous pulmonary venous connection|Tetralogy of Fallot|Hirschsprung disease   ,Schizophrenia, association with|Major depressive disorder, association with	COSMIC,ICGC,
chr1	193465893	193465893	C	T	intergenic	CDC73,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Potential protein deficiency|Parathyroid carcinoma/adenoma|Parathyroid carcinoma.|Parathyroid carcinoma|Parathyroid cancer|Parathyroid adenoma.|Parathyroid adenoma |Hyperparathyroidism, primary.|Hyperparathyroidism, primary|Hyperparathyroidism, isolated|Hyperparathyroidism-jaw tumour syndrome.|Hyperparathyroidism-jaw tumour syndrome,-	ICGC,
chr1	175312531	175312531	C	T	intronic	TNR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	nervous system phenotype	Schizophrenia, association with  |Intellectual disability  	ICGC,
chr4	29339378	29339378	C	T	intergenic	MIR4275,PCDH7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr12	18871548	18871548	A	T	intronic	PLCZ1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	Infertility, male|Potential protein deficiency	ICGC,
chr15	45707876	45707876	G	T	exonic	SPATA5L1	nonsynonymous	SNV	0.011	0.749	-	-	-	-	-	-	-	COSM3667726	-	LICA-FR|1|252|0.00397	-	-	-	Autism spectrum disorder	COSMIC,ICGC,
chr9	103292184	103292184	C	T	intronic	MSANTD3-TMEFF1,TMEFF1	unknown	SNV	-	-	-	-	rs185698021	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr7	120905723	120905723	G	A	intronic	CPED1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr1	238993049	238993049	G	A	intergenic	LINC01139,CHRM3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,vision/eye phenotype	-,Autistic disorder|Bladder malformation|Diabetes, type 2, increased risk, association |Tetralogy of Fallot	ICGC,
chr2	50423767	50423767	C	A	intronic	NRXN1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9377220	-	OV-AU|1|93|0.01075	-	-	mortality/aging	Hypotonia|Hypotonia & encephalopathy|Increased white matter volume, association with|Intellectual disability  |Intellectual disability & attention deficit hyperactivity disorder|Intellectual disability & hearing loss|Intellectual disability & pervasive developmental disorder|Intellectual disability and autism|Intellectual disability, nonsyndromic |Intellectual disability, seizures, dysmorphisms & language delay|Growth retardation  |Epilepsy, myoclonic seizures & speech delay|Developmental disorder|Developmental disorder & attention deficit hyperactivity disorder|Developmental disorder, seizures & attention deficit hyperactivity disorder|Developmental/intellectual disability, hypotonia & dysmorphic features|Disorder of muscle, ligament & fascia|Encephalopathy  |Epilepsy  |Epilepsy with cognitive impairment / autism spectrum disorder|Epilepsy with focal seizures|Epilepsy, generalised |Intellectual disability, seizures, language delay & hypotonia|Language delay|Learning difficulties|Respiratory distress & sepsis|Respiratory distress syndrome|Schizophrenia |Schizophrenia, childhood onset |Schizophrenia, disorganised type|Seizures, generalized tonic-clonic & attention deficit hyperactivity disorder|Sensory integration disorder & attention deficit hyperactivity disorder|Speech delay & social communication difficulties|Tourette syndrome|Pervasive developmental disorder / hypotonia|Pervasive developmental disorder|Pervasive developmental delay / mental retardation, lack of coordination & hearing loss|Learning difficulties, ADHD & autism|Mental retardation|Mental retardation, autism, vertebral malformations|Mental retardation, Pitt-Hopkins-like|Microcephaly & mental retardation|Multiple congenital anomalies  |Multiple disabilities|Myoclonic epilepsy   |Neurodevelopmental disorder  |Vertebral anomalies|Developmental delay, speech delay & social communication difficulties|Attention deficit hyperactivity disorder |Autism spectrum disorder, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability & language delay|Autism spectrum disorder, intellectual disability, dysmorphisms, developmental delay & language delay|Autism spectrum disorder, intellectual disability, seizures & developmental delay|Autism spectrum disorder, intellectual disability, seizures, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability, seizures, dysmorphisms & language delay|Autism spectrum disorder, seizures, developmental delay & language delay|Autism, intellectual disability & attention deficit hyperactivity disorder|Autistic disorder|Autism spectrum disorder with developmental & speech delay|Autism spectrum disorder & seizures|Autism spectrum disorder & language delay|Autism |Autism & learning difficulties|Autism & mental retardation|Autism & seizures|Autism spectrum disorder|Autism spectrum disorder & attention deficit hyperactivity disorder|Autism spectrum disorder & developmental delay|Autism spectrum disorder & dysmorphic features|Autism spectrum disorder & intellectual disability|Behavioural problems|Congenital heart defect  |Craniofacial dysmorphism|Developmental delay & speech/motor delay|Developmental delay with early-onset epilepsy|Developmental delay, dysmorphic features & short stature|Developmental delay, epilepsy, autism|Developmental delay, language delay & hypotonia|Developmental delay, learning difficulties, ADHD|Developmental delay, microcephaly & behavioural problems|Developmental delay, pulmonic stenosis & autism spectrum disorder|Developmental delay, short stature and diaphragmatic hernia|Developmental delay, speech delay & microcephaly|Developmental delay & seizures|Developmental delay & seizure disorder|Cystic hygroma, hydrops & micrognathia|Cystic hygroma, shortened upper limbs & fetal demise|Developmental & speech delay|Developmental delay|Developmental delay / autism|Developmental delay & autism|Developmental delay & dysmorphic features|Developmental delay & epilepsy|Developmental delay & hypotonia|Developmental delay & multiple congenital anomalies	COSMIC,ICGC,
chr6	12390256	12390256	T	A	intergenic	EDN1,RNU6-48P	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7597778	-	PACA-AU|1|391|0.00256	-	-	mortality/aging,-	Variant angina, association with|Orthostatic intolerance protection|Obstructive sleep apnea|Not associated with hypertension or orthostatic hypotension|Isolated question-mark ears|Hypertension |Higher endothelin-1 levels, association with|Higher blood pressure in overweight people, association|Elevated mRNA levels|Auriculocondylar syndrome|Acute coronary syndrome, association with,-	COSMIC,ICGC,
chr11	98912313	98912313	G	A	intronic	CNTN5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	behavior/neurological phenotype	-	ICGC,
chr11	40560432	40560432	C	T	intronic	LRRC4C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr11	30631366	30631366	C	G	intergenic	MPPED2,DCDC5	unknown	SNV	-	-	-	0.2390	rs1983777	-	0.189097	-	0.225	-	-	ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488	-	-	-,-	-,Dyslexia |Schizophrenia  	ICGC,
chr8	53791768	53791768	A	T	intergenic	RB1CC1,NPBWR1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,behavior/neurological phenotype	Schizophrenia |Lung cancer|Leukemia, risk, association with|Increased promoter activity|Decreased promoter activity,Altered receptor function	ICGC,
chr8	10382632	10382632	G	A	upstream	PRSS55	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr16	28828866	28828866	G	A	intergenic	NPIPB9,ATXN2L	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7303836	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	COSMIC,ICGC,
chrX	49712892	49712892	G	A	intronic	CLCN5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	skeleton phenotype	Dent (Japan) disease|Rickets, hypophosphataemic|Nephrolithiasis, hypercalciuric|Low molecular weight proteinuria|Dent disease 2|Dent disease	ICGC,
chr20	52393480	52393480	G	T	intergenic	ZNF217,SUMO1P1	unknown	SNV	-	-	-	0.1220	rs35149532	-	0.106629	-	0.094	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr2	103232699	103232699	T	C	intergenic	SLC9A4,SLC9A2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	immune system phenotype,reproductive system phenotype	Higher sST2 levels, association with,-	ICGC,
chr4	179589455	179589455	C	T	intergenic	LINC01098,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr19	9595724	9595724	G	A	intronic	ZNF560	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr1	8601447	8601447	A	C	intronic	RERE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-JP|1|585|0.00171	-	-	mortality/aging	Autism	ICGC,
chr8	16472342	16472342	C	T	intergenic	MSR1,FGF20	unknown	SNV	-	-	-	0.0032	rs116419575	-	0.00299521	-	-	COSN24844538	-	PBCA-DE|1|499|0.00200	-	-	mortality/aging,hearing/vestibular/ear phenotype	Prostate cancer, association with|Prostate cancer|Chronic obstructive pulmonary disease, in smokers, association with|Barrett oesophagus/oesophageal adenocarcinoma|Atherosclerosis, increased risk, association with,Larger hippocampal volume, association with|Parkinson disease, increased risk, association with	COSMIC,ICGC,
chr13	102365121	102365121	T	-	intronic	ITGBL1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312,BRCA-EU|1|569|0.00176	-	-	-	-	ICGC,
chr9	87614628	87614628	A	G	intronic	NTRK2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9525875	-	OV-AU|1|93|0.01075	-	-	mortality/aging	Anxiety-related traits, association with|Obesity, hyperphagia, and developmental delay	COSMIC,ICGC,
chr4	76140352	76140352	C	T	intergenic	PARM1,LOC441025	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Schizophrenia,-	ICGC,
chr8	105737469	105737469	C	T	intergenic	LRP12,ZFPM2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	-,Atrial septal defect & gonadal dysgenesis|Diaphragmatic hernia, congenital|Double outlet right ventricle |Gonadal dysgenesis |Reduced activity|Tetralogy of Fallot 	ICGC,
chr13	66559569	66559569	C	T	intergenic	NONE,PCDH9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-,-	-,-	ICGC,
chr7	146902341	146902341	T	G	intronic	CNTNAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Gilles de la Tourette syndrome|Intellectual disability  |Learning disability & speech problems|Mental retardation |Mental retardation, Pitt-Hopkins-like|Multiple congenital anomalies  |Seizures, neonatal |Speech delay  |Stuttering |Epileptic encephalopathy  |Epilepsy and schizophrenia|Autism|Autism spectrum disorder |Autism spectrum disorder, modifier of|Childhood apraxia of speech|Cortical dysplasia-focal epilepsy syndrome|Developmental and/or speech and/or behavioural problems|Developmental delay  |Developmental delay & dysmorphic features|Dyslexia 	ICGC,
chr7	145360682	145360682	A	G	intergenic	TPK1,CNTNAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8788011	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	Thiamine pyrophosphokinase deficiency|Leigh-like disease|Colorectal cancer, increased risk, association with |Autism,Gilles de la Tourette syndrome|Intellectual disability  |Learning disability & speech problems|Mental retardation |Mental retardation, Pitt-Hopkins-like|Multiple congenital anomalies  |Seizures, neonatal |Speech delay  |Stuttering |Epileptic encephalopathy  |Epilepsy and schizophrenia|Autism|Autism spectrum disorder |Autism spectrum disorder, modifier of|Childhood apraxia of speech|Cortical dysplasia-focal epilepsy syndrome|Developmental and/or speech and/or behavioural problems|Developmental delay  |Developmental delay & dysmorphic features|Dyslexia 	COSMIC,ICGC,
chr5	568589	568589	G	A	intergenic	MIR4456,LOC100996325	unknown	SNV	-	-	-	3.242e-05	-	-	-	-	-	COSN25830610	-	EOPC-DE|1|202|0.00495	-	-	-,-	-,-	COSMIC,ICGC,
chr12	76482820	76482820	-	A	intergenic	NAP1L1,BBS10	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,Bardet-Biedl syndrome |Null allele	ICGC,
chr17	75481039	75481051	TGTGGTGGTGAAG	-	intronic	SEPT9	unknown	deletion	-	-	-	-	-	-	-	-	-	COSN27695855	-	ESAD-UK|1|301|0.00332,NKTL-SG|1|50|0.02000	-	-	-	Amyotrophy, neuralgic|Neuritis with brachial predilection, NAPB	COSMIC,COSMIC,ICGC,
chr4	132289049	132289049	T	A	intergenic	LOC101927282,PCDH10	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26530870	-	LICA-CN|1|402|0.00249	-	-	-,mortality/aging	-,Schizophrenia|Potential protein deficiency	COSMIC,ICGC,
chr8	26631211	26631211	A	T	intronic	ADRA1A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging	Increased receptor signalling|Hypertension, association with |Decreased binding affinity|Complex regional pain syndrome, association with|Altered antagonist binding	ICGC,
chr5	16730387	16730387	G	A	intronic	MYO10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-	-	ICGC,
chr6	91708325	91708325	C	T	intergenic	MAP3K7,MIR4643	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	-,-	ICGC,
chr1	77471564	77471564	T	C	intronic	ST6GALNAC5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1457957	-	LIRI-JP|1|258|0.00388	-	-	-	Coronary artery disease  	COSMIC,ICGC,
chr11	1739662	1739662	G	C	intergenic	KRTAP5-6,IFITM10	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6996474	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	COSMIC,ICGC,
chr22	39655867	39655867	G	A	intergenic	PDGFB,RPL3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Basal ganglia calcification, idiopathic|Meningioma,-	ICGC,
chr13	86643364	86643364	-	A	intergenic	SLITRK6,MIR4500HG	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|2|241|0.00830	-	-	behavior/neurological phenotype,-	High myopia and sensorineural deafness,-	ICGC,
chr4	151108080	151108080	-	GTAT	intronic	DCLK2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|2|67|0.02985	-	-	mortality/aging	-	ICGC,
chr13	59644814	59644814	A	G	intergenic	LOC101926897,DIAPH3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23842245	-	ORCA-IN|1|178|0.00562	-	-	-,-	-,Autism  |Auditory neuropathy spectrum disorder|Auditory neuropathy	COSMIC,ICGC,
chr15	52114016	52114016	G	T	intergenic	TMOD2,TMOD3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	behavior/neurological phenotype,-	-,-	ICGC,
chr12	120862052	120862052	A	T	intergenic	MSI1,COX6A1	unknown	SNV	-	-	-	0.0336	rs117898067	-	0.0201677	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,mortality/aging	-,-	ICGC,
chr18	68669884	68669884	A	G	intergenic	GTSCR1,LOC100505776	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-UK|1|140|0.00714	-	-	-,-	-,-	ICGC,
chr18	62258336	62258336	G	C	intergenic	LOC284294,CDH7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr6	67011447	67011447	T	-	intergenic	SLC25A51P1,NONE	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	ICGC,
chr6	103444792	103444792	G	A	intergenic	GRIK2,HACE1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,tumorigenesis	Mental retardation, non-syndromic, autosomal recessive,Wilms tumour 	ICGC,
chr3	1666297	1666297	C	A	intergenic	CNTN6,CNTN4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	behavior/neurological phenotype,nervous system phenotype	Intellectual disability  ,Spinocerebellar ataxia 16 |Features of 3p deletion syndrome|Autism spectrum disorder |Autism	ICGC,
chr17	54557438	54557438	C	T	intronic	ANKFN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr9	125158977	125158977	-	CTAATA	downstream	PTGS1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	integument phenotype	Inhibition of prostaglandin H2 formation, association |Myocardial infarction in CAD, reduced risk, association|Reduced activity	ICGC,
chr1	19635005	19635005	C	G	exonic	AKR7A2	nonsynonymous	SNV	0.0	1.0	-	-	-	-	-	-	-	COSM1626714	-	GACA-JP|1|585|0.00171,LIRI-JP|1|258|0.00388	-	-	-	Reduced enzyme activity	COSMIC,ICGC,
chr12	123078802	123078802	T	-	intronic	KNTC1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	STAD|1|395|0.00253,STES|1|395|0.00253	-	-	-	-	-	TCGA,
chr12	29276833	29276833	G	A	intergenic	CCDC91,FAR2	unknown	SNV	-	-	-	0.0002	rs768055595	-	-	-	-	-	-	UTCA-FR|1|20|0.05000	-	-	-,-	-,-	ICGC,
chr11	24021284	24021284	G	A	intergenic	MIR8054,LUZP2	unknown	SNV	-	-	-	-	rs543371330	-	0.000199681	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,normal phenotype	-,Anorectal malformation	ICGC,
chr11	99597546	99597546	C	T	intronic	CNTN5	unknown	SNV	-	-	-	9.696e-05	rs769435362	-	-	-	0.007	COSN25741525	-	EOPC-DE|1|202|0.00495	-	-	behavior/neurological phenotype	-	COSMIC,ICGC,
chr18	44506121	44506121	T	C	intergenic	PIAS2,KATNAL2	unknown	SNV	-	-	-	3.451e-05	-	-	-	-	-	COSN23966316	-	LAML-KR|2|205|0.00976	-	-	normal phenotype,-	-,Autism	COSMIC,ICGC,
chr11	133212344	133212344	G	A	intronic	OPCML	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|3|183|0.01639	-	-	no phenotypic analysis	Autism spectrum disorder  	ICGC,
chr14	52609070	52609070	T	C	intergenic	NID2,PTGDR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	cellular phenotype,mortality/aging	-,Asthma, association with|Asthma, allergic, association with|Allergy to pollen and mites, association with	ICGC,
chr4	96850797	96850797	A	T	intergenic	PDHA2,STPG2-AS1	unknown	SNV	-	-	-	0.0003	rs546820806	-	0.000599042	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr16	26914267	26914267	AG	GA	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr1	74514854	74514854	G	C	intronic	LRRIQ3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	-	ICGC,
chr2	105124331	105124331	T	A	ncRNA_intronic	LINC01102,LINC01103	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	-,-	ICGC,
chr9	2244222	2244222	C	T	intergenic	SMARCA2,VLDLR-AS1	unknown	SNV	-	-	-	0.0049	rs151211881	-	0.00559105	-	0.022	-	-	PACA-CA|1|268|0.00373	-	-	integument phenotype,-	Short stature|Schizophrenia, association with   |Nicholaides-Baraitser syndrome|Multiple congenital anomalies  |Lung cancer, association with|Intellectual disabilty, short stature and dysmorphisms|Hepatocellular carcinoma, in smokers, association with.|Hepatocellular carcinoma, association with.|Developmental delay & dysmorphic features|Developmental delay & autistic features|Developmental delay  |Coffin-Siris syndrome,-	ICGC,
chr16	7450208	7450208	C	T	intronic	RBFOX1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Muscular and feet abnormalities|Mental retardation|Epilepsy, rolandic  |Epilepsy|Developmental delay, facial dysmorphism  |Developmental delay and transposition of the great arteries|Developmental delay and diplegia|Developmental delay and craniosynostosis|Developmental delay  |Cardiac defects|Cardiac abnormalities, micrognathia and scoliosis|Autism spectrum disorder|Autism|Attention deficit hyperactivity disorder 	ICGC,
chr12	116132179	116132179	C	T	intergenic	TBX3,MED13L	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15339396	-	LAML-KR|1|205|0.00488	-	-	integument phenotype,-	Ulnar-mammary syndrome,Intellectual disability, nonsyndromic, no cardiac involvement|Hypotonia, learning difficulties & perimembranous ventricular septal defect|Hypotonia, intellectual disability, conotruncal heart defect & facial anomalies|Congenital heart defect|Colorectal cancer, increased risk, association with |Autism	COSMIC,ICGC,
chr14	85687232	85687232	A	G	intergenic	NONE,LINC00911	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr21	25558129	25558129	G	A	intergenic	D21S2088E,LOC101927869	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr16	27532174	27532174	G	A	intronic	GTF3C1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	-	ICGC,
chr3	196709713	196709713	-	T	intergenic	PIGZ,MFI2	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN24872966	-	-	-	-	-,hematopoietic system phenotype	-,Colorectal cancer, increased risk, association with	COSMIC,
chr9	21124257	21124257	-	CCTTTTATTTCTTCTTCTTCTTCTTCTTCCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCGTCTTCGTCTTCGTCTTCGTCTTCTTCTTCTTCTTCTTCCTCTT	intergenic	IFNB1,IFNW1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	hematopoietic system phenotype,-	Cerebral malaria, predisposition to ,-	ICGC,
chr11	15863942	15863942	G	A	intergenic	LOC102724957,SOX6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,mortality/aging	-,Craniosynostosis |Developmental delay and spinal syrinx	ICGC,
chr11	106777543	106777543	C	A	intronic	GUCY1A2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	hematopoietic system phenotype	-	ICGC,
chr20	2360819	2360819	C	T	upstream	TGM6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Progressive supranuclear palsy |Spastic paraplegia and ataxia|Spinocerebellar ataxia	ICGC,
chr11	102364519	102364519	C	T	intergenic	TMEM123,MMP7	unknown	SNV	-	-	-	0.2536	rs668660	-	0.361222	-	0.341	-	-	ESAD-UK|1|301|0.00332	-	-	normal phenotype,mortality/aging	-,Vulnerable carotid plaque, association with|Smaller reference luminal diameter, association|Liver cirrhosis, association with|Cancer, increased risk, in East Asians, association with.|Cancer, increased risk|Breast cancer, reduced risk, association with|Astrocytoma, association with	ICGC,
chr2	12976754	12976754	C	G	intergenic	TRIB2,LOC100506474	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9079788	-	OV-AU|1|93|0.01075	-	-	mortality/aging,-	-,-	COSMIC,ICGC,
chr1	90856606	90856606	G	T	intergenic	ZNF326,BARHL2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9027055	-	PAEN-AU|1|52|0.01923	-	-	-,mortality/aging	Schizophrenia,-	COSMIC,ICGC,
chr3	151979969	151979973	TGTAC	-	downstream	MBNL1-AS1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	-	-	ICGC,
chr4	90287481	90287481	C	T	intergenic	GPRIN3,SNCA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-FR|1|72|0.01389	-	-	-,integument phenotype	Autism,Parkinsonism & dementia|Parkinson disease, young-onset|Parkinson disease, early-onset|Parkinson disease, association with|Parkinson disease, age of onset, association with|Parkinson disease & multiple system atrophy|Parkinson disease & dementia|Parkinson disease|Increased expression	ICGC,
chr3	128859038	128859038	T	C	intronic	ISY1,ISY1-RAB43	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr6	3409578	3409578	C	G	intronic	SLC22A23	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr4	130083343	130083343	C	A	intergenic	C4orf33,LOC101927282	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr19	52943430	52943430	G	A	intronic	ZNF534	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Potential protein deficiency	ICGC,
chr2	127052022	127052022	T	G	intergenic	CNTNAP5,GYPC	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN4984380	-	ESAD-UK|3|301|0.00997	-	-	-,-	Autism,Glycophorin C variant|Gerbich-negative blood group|Elliptocytosis|Duch blood group	COSMIC,COSMIC,ICGC,
chr1	212179423	212179423	G	A	intronic	INTS7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr1	169121949	169121949	C	T	intronic	NME7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	skeleton phenotype	Autism spectrum disorder	ICGC,
chr1	239005080	239005080	T	C	intergenic	LINC01139,CHRM3	unknown	SNV	-	-	-	0.2333	rs3001434	-	0.176917	-	0.196	-	-	ESAD-UK|1|301|0.00332	-	-	-,vision/eye phenotype	-,Autistic disorder|Bladder malformation|Diabetes, type 2, increased risk, association |Tetralogy of Fallot	ICGC,
chr6	127386617	127386617	A	G	intergenic	NONE,RSPO3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7688356	-	PACA-AU|1|391|0.00256	-	-	-,mortality/aging	-,-	COSMIC,ICGC,
chr11	108198475	108198475	A	G	exonic	ATM	nonsynonymous	SNV	0.001	1.0	-	-	-	-	-	-	-	-	-	-	Hereditary_cancer-predisposing_syndrome	-	mortality/aging	Tissue response in radiotherapy, association with|Multiple myelomas|Multiple cancers|Mantle cell lymphoma|Lung cancer, increased risk, association with|Longevity, association with|Longer telomere length, association with|Leukaemia risk|Increased risk of lung cancer in never smokers, association with |Hodgkin disease |Multiple sessile serrated adenoma|Non-obstructive azoospermia, increased risk|Stable coronary atherosclerotic lesions, association with |Radiotherapy tissue response|Prostate cancer  |Pancreatic cancer, association with|Pancreatic cancer|Ovarian cancer |Oral cancer susceptibility, association with|Ocular telangiectasia|Non-small-cell lung cancer, association with |Colorectal cancer?|Colorectal cancer, age of onset, association with.|Chronic lymphocytic leukaemia risk|Ataxia telangiectasia, variant|Ataxia telangiectasia, mild|Ataxia telangiectasia, late-onset variant|Ataxia telangiectasia, atypical|Ataxia telangiectasia|Ataxia telangiecstasia|Astrocytoma, association with|Acute lymphoblastic leukaemia||Breast cancer |Breast cancer risk in older women, association |Breast cancer susceptibility|Chronic lymphocytic leukaemia progression|Breast carcinoma, association with.|Breast cancer.|Breast cancer, susceptibility to |Breast cancer, susceptibility |Breast cancer, increased risk|Breast cancer, contralateral, reduced risk, association with|Breast cancer, bilateral, association with|Breast cancer, association with	ClinVar,
chrX	14510192	14510192	A	T	intergenic	UBE2E4P,GLRA2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BOCA-FR|1|98|0.01020	-	-	-,mortality/aging	-,-	ICGC,
chr16	30672451	30672451	A	G	intergenic	PRR14,FBRS	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-JP|1|585|0.00171	-	-	-,-	-,-	ICGC,
chr4	80262170	80262170	C	T	intergenic	NAA11,GK2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,-	-,-	ICGC,
chr20	38956819	38956819	G	C	intergenic	LINC01370,MAFB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,mortality/aging	-,Multicentric carpotarsal osteolysis|Intellectual and developmental disabilities|Cleft lip  	ICGC,
chr1	5703246	5703246	A	T	intergenic	MIR4417,MIR4689	unknown	SNV	-	-	-	0.0476	rs1603939	-	0.0323482	-	0.014	COSN25580412	-	EOPC-DE|1|202|0.00495,MALY-DE|1|241|0.00415	-	-	-,-	-,-	COSMIC,COSMIC,ICGC,
chr20	18791829	18791829	G	A	intronic	C20orf78	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr13	27604805	27604805	A	C	intergenic	GPR12,USP12	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,-	Glaucoma, primary congenital,-	ICGC,
chr10	12747468	12747468	G	A	intronic	CAMK1D	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr3	194059451	194059463	CGGGGCACCTCGT	-	intergenic	LINC00887,CPN2	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	ICGC,
chr5	61151495	61151495	-	CT	intergenic	LOC100506526,KIF2A	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,Malformation of cortical development	ICGC,
chr12	47177025	47177025	T	C	intronic	SLC38A4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-	-	ICGC,
chr4	168631530	168631530	A	G	intergenic	SPOCK3,ANXA10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr21	47762697	47762697	C	T	intronic	PCNT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Seckel syndrome|Schizophrenia|Primordial dwarfism|Microcephalic osteodysplastic primordial dwarfism type II|Microcephalic osteodysplastic primordial dwarfism type 2|Microcephalic osteodysplastic primordial dwarfism|Intellectual disability  	ICGC,
chr18	1661375	1661375	G	A	intergenic	LINC00470,METTL4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr11	42337615	42337615	C	A	intergenic	LOC100507205,HNRNPKP3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	ICGC,
chr13	37955963	37955963	T	C	intergenic	CSNK1A1L,LINC00547	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9746044	-	RECA-EU|1|422|0.00237	-	-	-,-	Potential protein deficiency,-	COSMIC,ICGC,
chr10	56409683	56409683	G	A	intronic	PCDH15	unknown	SNV	-	-	-	0.0116	rs115177458	-	0.0151757	-	0.007	-	-	ESAD-UK|1|301|0.00332	-	-	vision/eye phenotype	Usher syndrome II|Usher syndrome 1f|Usher syndrome 1|Lipid levels in hyperlipidaemia, association with|Hearing loss, non-syndromic|Deafness, non-syndromic, autosomal recessive|Deafness, non-syndromic |Deafness  	ICGC,
chr2	191152377	191152377	G	A	intronic	HIBCH	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Neurodegeneration, progressive infantile|Potential protein deficiency	ICGC,
chr12	29882967	29882967	G	A	intronic	TMTC1	unknown	SNV	-	-	-	0.1619	rs12300378	-	0.163339	-	0.188	-	-	LAML-KR|1|205|0.00488	-	-	-	-	ICGC,
chr1	206195567	206195567	C	T	intergenic	FAM72C,AVPR1B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,behavior/neurological phenotype	-,Mood disorders, reduced risk of childhood-onset, association with|Panic disorder, association with 	ICGC,
chr5	129268009	129268009	C	G	intronic	CHSY3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr4	164711687	164711687	C	T	intronic	MARCH1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype	-	ICGC,
chrX	56306672	56306672	T	-	intronic	KLF8	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	RECA-EU|1|422|0.00237,BRCA-EU|1|569|0.00176,LIRI-JP|1|258|0.00388	-	-	embryogenesis phenotype	Intellectual disability, absent speech & behavioural problems|Mental retardation, non-syndromic |Potential protein deficiency	ICGC,
chr21	24263862	24263862	C	A	intergenic	LINC00308,D21S2088E	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26524296	-	LICA-CN|1|402|0.00249	-	-	-,-	-,-	COSMIC,ICGC,
chr8	27826031	27826032	GC	-	intronic	SCARA5	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr16	61308908	61308908	G	T	intergenic	LOC729159,CDH8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	-,Learning disability  |Autism & learning disability 	ICGC,
chr7	25589684	25589684	C	T	intergenic	NPVF,RNU6-16P	unknown	SNV	-	-	-	3.23e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr17	48072910	48072910	G	T	upstream	DLX3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	integument phenotype	Trichodentoosseous syndrome, osteogenesis imperfecta & intellectual disability|Trichodentoosseous syndrome, attenuated|Trichodentoosseous syndrome|Amelogenesis imperfecta with taurodontism	ICGC,
chr1	92598101	92598101	T	C	intronic	BTBD8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr14	102446112	102446112	G	A	exonic	DYNC1H1	nonsynonymous	SNV	0.05	0.984	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Spinal muscular atrophy.|Spinal muscular atrophy  |Mental retardation  |Malformations of cortical development|Malformation of cortical development|Intellectual disability with neuronal migration defects|Charcot-Marie-Tooth disease, axonal 	ICGC,
chr4	176751809	176751809	G	A	intronic	GPM6A	unknown	SNV	-	-	-	0.0066	rs146826949	-	0.00539137	-	0.007	COSN17972206	-	SKCA-BR|1|100|0.01000	-	-	reproductive system phenotype	Claustrophobia, association with	COSMIC,ICGC,
chr3	183191923	183191923	A	G	intergenic	LINC00888,KLHL6	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8364822	-	MALY-DE|1|241|0.00415	-	-	-,hematopoietic system phenotype	-,Autism spectrum disorder	COSMIC,ICGC,
chr3	83823326	83823326	C	T	intergenic	GBE1,LINC00971	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Potential protein deficiency|Polyglucosan body disease, relapsing-remitting form|Polyglucosan body disease, adult|Lethal multiple pterygium syndrome|Glycogen storage disease 4, non-lethal neuromuscular|Glycogen storage disease 4, neonatal|Glycogen storage disease 4|Autism spectrum disorder|Adult polyglucosan body disease,-	ICGC,
chr18	7788711	7788711	C	A	intronic	PTPRM	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20324137	-	PAEN-AU|1|52|0.01923	-	-	cardiovascular system phenotype	Potential protein deficiency	COSMIC,ICGC,
chr4	31573977	31573977	G	A	intergenic	PCDH7,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr7	93335451	93335451	C	T	intergenic	CALCR,MIR4652	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Lower lumbar bone mineral density, association,-	ICGC,
chr11	113292424	113292424	C	T	intronic	DRD2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Prefronto-striatal phenotypes in schizophrenia, association|Prefronto-striatal phenotypes in schizophrenia, association with|Reduced emotional stability, association with|Reduced Freud-1 binding activity|Schizophrenia, association with|Schizophrenia, association with.|Schizophrenia, lower risk, association with|Schizophrenia, modifier, association with|Wilson disease, association with|Neuroleptic malignant syndrome |Myoclonus dystonia||Alcohol dependence, association with|Alcoholism, association with |Altered receptor affinity in vivo, association with|Cocaine abuse, association with|Fear learning, association |Impaired inhibition of intracellular cAMP|Increased expression, association with|Methamphetamine psychosis, rapid onset, association with	ICGC,
chr3	181539863	181539863	G	A	intergenic	SOX2-OT,LINC01206	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	143141408	143141408	C	T	ncRNA_intronic	LOC102723769	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chrY	9988016	9988016	A	G	intergenic	TTTY23B,NONE	unknown	SNV	-	-	-	-	rs373588773	-	-	-	-	COSN1394973	-	COCA-CN|1|321|0.00312	-	-	-,-	-,-	COSMIC,COSMIC,ICGC,
chr15	78928958	78928958	T	G	intronic	CHRNB4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7057302	-	-	-	-	integument phenotype	Altered function|Nicotine dependence, reduced risk|Potential protein deficiency|Reduced surface expression	COSMIC,
chr12	54455737	54455737	C	T	ncRNA_intronic	FLJ12825	unknown	SNV	-	-	-	3.231e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr9	136860414	136860414	G	A	intergenic	VAV2,LINC00094	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	hematopoietic system phenotype,-	-,-	ICGC,
chr5	178220520	178220520	G	A	intergenic	AACSP1,ZNF354B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr19	55550796	55550796	A	G	intergenic	GP6,RDH13	unknown	SNV	-	-	-	0	-	-	-	-	-	COSN25730681	-	EOPC-DE|1|202|0.00495	-	-	hematopoietic system phenotype,-	Absence of collagen-induced platelet activation|Decreased platelet activation|Deep vein thrombosis risk|Increased risk of venous thrombosis |Myocardial infarction, age related, association|Myocardial infarction, premature, association|Nonfatal myocardial infarction, reduced risk|Reduced maximum creatinine levels, association with.|Venous thromboembolism,-	COSMIC,ICGC,
chr17	68859543	68859543	G	A	intergenic	KCNJ2,CASC17	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,-	Long QT syndrome|Long QT syndrome.|Periodic paralysis|Short QT syndrome|Short QT syndrome 3|Sudden cardiac death  |Ventricular tachycardia|Catecholaminergic polymorphic ventricular tachycardia.|Atrial fibrillation.|Andersen syndrome|Andersen syndrome & catecholaminergic polymorphic ventricular tachycardia mimickry|Andersen-Tawil syndrome|Andersen-Tawil syndrome, without cardiac involvement|Andersen-Tawil syndrome.|Arrhythmia|Atrial fibrillation,-	ICGC,
chr5	135623110	135623110	C	T	intronic	TRPC7	unknown	SNV	-	-	-	9.785e-05	rs556810263	-	0.000399361	-	-	COSN26415078	-	PRAD-UK|1|140|0.00714	-	-	vision/eye phenotype	-	COSMIC,ICGC,
chr10	65656848	65656848	C	T	intergenic	REEP3,ANXA2P3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24156552	-	SKCA-BR|1|100|0.01000,BRCA-FR|1|72|0.01389	-	-	-,-	-,-	COSMIC,ICGC,
chr9	22949256	22949256	G	A	intergenic	LINC01239,LOC101929563	unknown	SNV	-	-	-	9.696e-05	-	-	-	-	-	COSN9706070	-	BRCA-EU|1|569|0.00176,OV-AU|1|93|0.01075	-	-	-,-	-,-	COSMIC,COSMIC,ICGC,
chr11	60229887	60229887	G	A	exonic	MS4A1	nonsynonymous	SNV	0.186	0.017	1.222e-05	-	rs766227660	1.649e-05	-	-	-	COSM1735009	-	-	-	-	hematopoietic system phenotype	CD20 deficiency	COSMIC,
chr16	3188510	3188510	C	T	exonic	ZNF213	nonsynonymous	SNV	0.216	0.0	1.639e-05	3.232e-05	rs201118507	8.362e-06	0.000199681	7.7e-05	-	COSM703112	LUSC|1|178|0.00562	LUSC-US|1|194|0.00515	-	-	-	Autism	COSMIC,TCGA,ICGC,
chr5	33247551	33247551	T	C	intergenic	LOC340113,TARS	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr13	106904455	106904455	G	A	intergenic	LINC00343,LINC00460	unknown	SNV	-	-	-	6.459e-05	rs368642683	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr16	599656	599656	G	A	exonic	CAPN15	synonymous	SNV	-	-	1.882e-05	-	rs776840927	-	-	-	-	-	-	GACA-JP|1|585|0.00171	-	-	-	-	ICGC,
chr11	132121048	132121048	G	A	intronic	NTM	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Aortic aneurysm, thoracic & intracranial|Potential protein deficiency	ICGC,
chr15	28271889	28271889	C	T	intronic	OCA2	unknown	SNV	-	-	-	-	rs542958337	-	0.000199681	-	-	COSN25640307	-	MALY-DE|1|241|0.00415	-	-	integument phenotype	Skin pigmentation, association with|Pigmentary dysplasia, mental retardation, epilepsy & dysmorphic features|Oculocutaneous albinism|Mild to subclinical phenotype|Malignant melanoma, increased risk, association with|Darker eye colour, association with|Blue eye colour, association with|Basal cell carcinoma, association with.|Albinism, oculocutaneous II|Albinism, oculocutaneous|Albinism, ocular	COSMIC,ICGC,
chr6	70006204	70006204	G	A	intronic	BAI3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr1	112825237	112825237	GG	AA	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr12	108647160	108647160	C	A	intergenic	WSCD2,CMKLR1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1141581	-	-	-	-	-,hematopoietic system phenotype	-,-	COSMIC,
chr7	109909344	109909344	A	C	intergenic	EIF3IP1,IMMP2L	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,reproductive system phenotype	-,Gilles de la Tourette syndrome|Autism	ICGC,
chr3	31650576	31650576	C	T	intronic	STT3B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	Congenital disorder of glycosylation  |Schizophrenia	ICGC,
chr9	130080561	130080561	C	T	intronic	GARNL3	unknown	SNV	-	-	-	0.1392	rs62578839	-	0.135184	-	0.094	-	-	LAML-KR|1|205|0.00488	-	-	-	-	ICGC,
chr10	57159187	57159187	C	T	intergenic	PCDH15,MTRNR2L5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	vision/eye phenotype,-	Usher syndrome II|Usher syndrome 1f|Usher syndrome 1|Lipid levels in hyperlipidaemia, association with|Hearing loss, non-syndromic|Deafness, non-syndromic, autosomal recessive|Deafness, non-syndromic |Deafness  ,-	ICGC,
chr8	69655090	69655090	A	C	intronic	C8orf34	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22160101	-	BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chrX	84738966	84738966	G	C	intergenic	POF1B,CHM	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	normal phenotype,mortality/aging	Premature ovarian failure, association with,Choroideraemia|Potential protein deficiency	ICGC,
chr10	16547029	16547029	G	C	exonic	PTER	nonsynonymous	SNV	0.022	0.016	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr2	99156130	99156130	T	A	exonic	INPP4A	nonsynonymous	SNV	0.352	0.996	-	-	-	-	-	-	-	-	HNSC|2|512|0.00391	-	-	-	mortality/aging	Atopic asthma, reduced risk, association with	TCGA,
chr7	100714910	100714910	G	A	intergenic	MUC17,TRIM56	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Potential protein deficiency|Schizophrenia,-	ICGC,
chr5	20276138	20276190	TAATGTGACTTCCAGCAAGCCTCACTACCATGCGATAAATTGCTCTGAGGTTC	-	intronic	CDH18	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	Anorectal malformation	ICGC,
chr7	87111548	87111548	A	G	intergenic	ABCB4,ABCB1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26457070	-	LIAD-FR|1|32|0.03125	-	-	reproductive system phenotype,mortality/aging	Intrahepatic cholestasis, familial progressive 3|Intrahepatic cholestasis, familial progressive|Intrahepatic cholestasis of pregnancy.|Intrahepatic cholestasis of pregnancy, severe form, association|Intrahepatic cholestasis of pregnancy, association |Liver disease, in cystic fibrosis patients, association with|Low phospholipid associated cholelithiasis|Low-phospholipid-associated cholelithiasis|LPAC syndrome with dilation of the bile ducts and gallstones|LPAC syndrome with intrahepatic cholestasis of pregnancy|Obstetric cholestasis.|Pancreatitis & cholelithiasis |Reduced promoter activity|Intrahepatic cholestasis of pregnancy|Increased promoter activity|Idiopathic infant cholestasis, protection against, association|Cholangitis|Cholangitis and cholangiocarcinoma|Cholangitis/Cholestasis|Cholelithiasis |Cholestasis and intrahepatic cholestasis of pregnancy/Biliary cirrhosis with intrahepatic cholestasis of pregnancy|Cholestasis, anicteric|Cholestasis, drug-induced|Cholestasis, intrahepatic|Cholestasis, low phospholipid-associated|Cholestasis, oral contraceptive-induced|Cholesterol gallstone disease|Hepatocellular injury, drug-induced|Hepatolithiasis, primary,Lung cancer, suceptibility association with |Major adverse cardiovascular events in patients on clopidogrel, association with|Major depressive disorder, association with|Myelodysplasia, disease prorgression, association with.|Oral cleft malformations, association with|Osteonecrosis of the femoral head, association with|P-glycoprotein deficiency|Parkinson disease  |Parkinson disease association with pesticide exposure|Parkinson disease, association with|Reduced survival, in acute myeloid leukaemia, association with.|Reduced transcriptional activity|Lung cancer, lower risk, association with|Lower P-glycoprotein level, association with|Inflammatory bowel disease, association with|Acute lymphoblastic leukaemia, association with |Altered transport activity|Cancer risk, association with|Cannabis dependence, association with|Cleft lip/palate, increased risk, association with|Colchicine unresponsiveness in FMF, association with|Colorectal cancer |Increased level of risperidone active moiety|Gingival overgrowth, cyclosporine induced, association with|Gastric cancer, association with|Colorectal cancer, association with|Colorectal cancer risk, association with	COSMIC,ICGC,
chr18	66511934	66511934	A	T	intronic	CCDC102B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	NKTL-SG|1|50|0.02000	-	-	-	-	ICGC,
chr8	104138477	104138477	G	A	intergenic	ATP6V1C1,BAALCOS	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr11	69573036	69573036	G	C	intergenic	FGF19,FGF4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21911646	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging,mortality/aging	-,-	COSMIC,ICGC,
chr12	131696807	131696807	G	A	ncRNA_exonic	LINC01257	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	-	ICGC,
chr4	59483478	59483478	T	G	intergenic	IGFBP7-AS1,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr19	38795901	38795901	-	G	UTR3	YIF1B	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN14861461	-	-	-	-	-	-	COSMIC,
chr10	74115322	74115326	AGGTA	-	upstream	DNAJB12	unknown	deletion	-	-	-	-	-	-	-	-	-	COSN22836566	-	BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr7	75427642	75427642	-	A	intergenic	CCL26,CCL24	unknown	insertion	-	-	-	3.314e-05	rs753168019	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,hematopoietic system phenotype	Rheumatoid arthritis, association with|Eosinophilic esophagitis|Autism spectrum disorder|Asthma, association with,-	ICGC,
chr13	88969362	88969365	CTGT	-	intergenic	LINC00397,LINC00433	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr6	79824809	79824809	C	A	intergenic	PHIP,HMGN3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23825598	-	ORCA-IN|1|178|0.00562	-	-	mortality/aging,homeostasis/metabolism phenotype	Intellectual disability  |Glaucoma, primary congenital,-	COSMIC,ICGC,
chr11	132381277	132381277	A	T	intronic	OPCML	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	no phenotypic analysis	Autism spectrum disorder  	ICGC,
chr8	98787929	98787929	-	TGCTTGGAGCTCCAGCAGC	UTR5	LAPTM4B	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|9|71|0.12676,PACA-CA|1|268|0.00373,UCEC-US|1|250|0.00400	-	-	-	Autism spectrum disorder	ICGC,
chr6	51931456	51931456	C	T	intronic	PKHD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Renal cystic disease and hepatic fibrosis.|Protection against colorectal cancer|Polycystic kidney disease |Caroli disease	ICGC,
chr9	93121310	93121310	G	A	ncRNA_intronic	LOC101927873	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chrX	36197986	36197986	G	A	intergenic	CHDC2,CXorf30	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr5	75842610	75842610	G	A	intronic	IQGAP2	unknown	SNV	-	-	-	9.687e-05	rs186869667	-	0.000798722	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Potential protein deficiency	ICGC,
chr3	159875649	159875649	G	A	ncRNA_intronic	IL12A-AS1	unknown	SNV	-	-	-	3.23e-05	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-	-	ICGC,
chr10	36762722	36762722	T	C	intergenic	LINC01452,ANKRD30A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr4	130304414	130304414	G	T	intergenic	C4orf33,LOC101927282	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr1	158488566	158488566	G	T	intergenic	OR10R2,OR6Y1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,Mean cell haemoglobin concentration, association with	ICGC,
chr4	133630315	133630315	G	A	intergenic	NONE,PCDH10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Schizophrenia|Potential protein deficiency	ICGC,
chr13	73446057	73446057	A	G	intronic	PIBF1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6231154	-	LIRI-JP|1|258|0.00388	-	-	-	Short stature	COSMIC,ICGC,
chr4	82365418	82365418	C	G	intronic	RASGEF1B	unknown	SNV	-	-	-	0.4345	rs6814080	-	0.450679	-	0.478	-	-	LAML-KR|1|205|0.00488	-	-	-	Mental retardation, in chromosome 4q21 deletion syndrome	ICGC,
chr3	162324508	162324508	G	T	intergenic	OTOL1,LINC01192	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1926002	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chrX	153076171	153076171	A	T	intronic	PDZD4	unknown	SNV	-	-	-	0.0889	rs4898449	-	0.119735	-	0.058	-	-	PBCA-DE|1|499|0.00200	-	-	normal phenotype	-	ICGC,
chr3	141897854	141897854	A	T	intronic	GK5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr21	40241798	40241798	C	T	intergenic	LOC101928398,LOC400867	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	77196794	77196794	T	A	intronic	ROBO2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Autism spectrum disorder  |Urinary tract anomalies|Vesicoureteral reflux	ICGC,
chr5	72403206	72403206	C	G	intergenic	FCHO2,TMEM171	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5610055	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr1	200547563	200547565	TAG	-	intronic	KIF14	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	Schizophrenia	ICGC,
chr2	73752446	73752446	C	T	intronic	ALMS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1853894	-	LIRI-JP|1|258|0.00388	-	-	vision/eye phenotype	Schizophrenia|Nephronophthisis-related ciliopathy|Myocardial infarction, early onset, association with|Leber congenital amaurosis|Diabetes, type 1, juvenile|Cardiomyopathy, mitogenic|Alstrom syndrome, atypical|Alstrom syndrome	COSMIC,ICGC,
chr13	22524017	22524017	G	A	intergenic	LINC00424,LINC00540	unknown	SNV	-	-	-	0	rs139243525	-	0.000199681	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	47371845	47371845	-	A	intronic	C2orf61	unknown	insertion	-	-	-	0.0189	rs572882192	-	0.0129792	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-	-	ICGC,
chr10	95952681	95952681	A	G	intronic	PLCE1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1124665	-	LINC-JP|1|394|0.00254	-	-	cardiovascular system phenotype	Respiratory-chain complex IV (COX) deficiency|Oesophageal squamous cell carcinoma, reduced risk  |Oesophageal squamous cell carcinoma, association with|Nephrotic syndrome, steroid resistant?|Nephrotic syndrome 3, early onset|Nephrotic syndrome|Mesangial proliferation|Glomerulosclerosis, focal segmental|Gastric adenocarcinoma, increased risk|Gastric adenocarcinoma and oesophageal SCC, association with|Diffuse mesangial sclerosis	COSMIC,ICGC,
chr2	233859007	233859007	G	A	intronic	NGEF	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	cellular phenotype	-	ICGC,
chr14	41194505	41194505	A	T	intergenic	FBXO33,LOC644919	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr1	178901135	178901135	C	A	intergenic	RALGPS2,FAM20B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,-	ICGC,
chr2	50659523	50659523	G	C	intronic	NRXN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging	Hypotonia|Hypotonia & encephalopathy|Increased white matter volume, association with|Intellectual disability  |Intellectual disability & attention deficit hyperactivity disorder|Intellectual disability & hearing loss|Intellectual disability & pervasive developmental disorder|Intellectual disability and autism|Intellectual disability, nonsyndromic |Intellectual disability, seizures, dysmorphisms & language delay|Growth retardation  |Epilepsy, myoclonic seizures & speech delay|Developmental disorder|Developmental disorder & attention deficit hyperactivity disorder|Developmental disorder, seizures & attention deficit hyperactivity disorder|Developmental/intellectual disability, hypotonia & dysmorphic features|Disorder of muscle, ligament & fascia|Encephalopathy  |Epilepsy  |Epilepsy with cognitive impairment / autism spectrum disorder|Epilepsy with focal seizures|Epilepsy, generalised |Intellectual disability, seizures, language delay & hypotonia|Language delay|Learning difficulties|Respiratory distress & sepsis|Respiratory distress syndrome|Schizophrenia |Schizophrenia, childhood onset |Schizophrenia, disorganised type|Seizures, generalized tonic-clonic & attention deficit hyperactivity disorder|Sensory integration disorder & attention deficit hyperactivity disorder|Speech delay & social communication difficulties|Tourette syndrome|Pervasive developmental disorder / hypotonia|Pervasive developmental disorder|Pervasive developmental delay / mental retardation, lack of coordination & hearing loss|Learning difficulties, ADHD & autism|Mental retardation|Mental retardation, autism, vertebral malformations|Mental retardation, Pitt-Hopkins-like|Microcephaly & mental retardation|Multiple congenital anomalies  |Multiple disabilities|Myoclonic epilepsy   |Neurodevelopmental disorder  |Vertebral anomalies|Developmental delay, speech delay & social communication difficulties|Attention deficit hyperactivity disorder |Autism spectrum disorder, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability & language delay|Autism spectrum disorder, intellectual disability, dysmorphisms, developmental delay & language delay|Autism spectrum disorder, intellectual disability, seizures & developmental delay|Autism spectrum disorder, intellectual disability, seizures, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability, seizures, dysmorphisms & language delay|Autism spectrum disorder, seizures, developmental delay & language delay|Autism, intellectual disability & attention deficit hyperactivity disorder|Autistic disorder|Autism spectrum disorder with developmental & speech delay|Autism spectrum disorder & seizures|Autism spectrum disorder & language delay|Autism |Autism & learning difficulties|Autism & mental retardation|Autism & seizures|Autism spectrum disorder|Autism spectrum disorder & attention deficit hyperactivity disorder|Autism spectrum disorder & developmental delay|Autism spectrum disorder & dysmorphic features|Autism spectrum disorder & intellectual disability|Behavioural problems|Congenital heart defect  |Craniofacial dysmorphism|Developmental delay & speech/motor delay|Developmental delay with early-onset epilepsy|Developmental delay, dysmorphic features & short stature|Developmental delay, epilepsy, autism|Developmental delay, language delay & hypotonia|Developmental delay, learning difficulties, ADHD|Developmental delay, microcephaly & behavioural problems|Developmental delay, pulmonic stenosis & autism spectrum disorder|Developmental delay, short stature and diaphragmatic hernia|Developmental delay, speech delay & microcephaly|Developmental delay & seizures|Developmental delay & seizure disorder|Cystic hygroma, hydrops & micrognathia|Cystic hygroma, shortened upper limbs & fetal demise|Developmental & speech delay|Developmental delay|Developmental delay / autism|Developmental delay & autism|Developmental delay & dysmorphic features|Developmental delay & epilepsy|Developmental delay & hypotonia|Developmental delay & multiple congenital anomalies	ICGC,
chrX	121312905	121312905	C	A	intergenic	GLUD2,GRIA3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PEME-CA|1|112|0.00893	-	-	-,integument phenotype	Parkinson disease, earlier onset, association with,Mental retardation, X-linked|Intellectual disability, X-linked with facial dysmorphism|Intellectual disability, X-linked|Autism spectrum disorder	ICGC,
chr9	10385022	10385022	T	A	intronic	PTPRD	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	integument phenotype	Restless legs syndrome, association with|Ewing sarcoma	ICGC,
chr15	60201562	60201562	G	A	intergenic	BNIP2,FOXB1	unknown	SNV	-	-	-	0.0003	-	-	-	-	-	COSN8175294	-	PACA-CA|1|268|0.00373	-	-	-,integument phenotype	-,-	COSMIC,ICGC,
chr9	15069746	15069746	T	A	intergenic	LOC389705,TTC39B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9279436	-	RECA-EU|1|422|0.00237	-	-	-,-	-,-	COSMIC,ICGC,
chr13	96872187	96872187	C	T	intronic	HS6ST3	unknown	SNV	-	-	-	0.0002	rs181086235	-	0.000599042	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr5	23661730	23661730	T	A	intergenic	PRDM9,CDH10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	reproductive system phenotype,-	Altered meiotic recombination hotspot usage|Azoospermia by meiotic arrest, association with |Azoospermia, non-obstructive ,-	ICGC,
chr8	70151329	70151329	T	C	intergenic	LOC100505718,LOC100505739	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr16	62035573	62035575	TTT	-	intronic	CDH8	unknown	deletion	-	-	-	3.345e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Learning disability  |Autism & learning disability 	ICGC,
chr9	127307496	127307496	G	A	intronic	NR6A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	-	ICGC,
chr4	117826495	117826495	G	A	intergenic	MIR1973,TRAM1L1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr13	60364367	60364367	G	A	intronic	DIAPH3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	Autism  |Auditory neuropathy spectrum disorder|Auditory neuropathy	ICGC,
chrX	50963563	50963563	T	A	intergenic	LINC01284,NUDT10	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15457661	-	OV-AU|1|93|0.01075	-	-	-,-	-,-	COSMIC,ICGC,
chr11	6708974	6708974	A	C	intergenic	MRPL17,GVINP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chrX	93815604	93815604	G	A	intergenic	FAM133A,LOC643486	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr8	87616147	87616147	C	T	intronic	CNGB3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	vision/eye phenotype	Achromatopsia|Cone dystrophy, autosomal recessive|Cone-rod dystrophy|Macular degeneration, juvenile|Progressive cone dystrophy|Retinitis pigmentosa	ICGC,
chr2	108554403	108554403	C	T	intergenic	RGPD4,SLC5A7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Schizophrenia|Reduced transport rate|Hereditary motor neuropathy, type VII	ICGC,
chr21	18479139	18479139	T	A	intergenic	LINC00478,C21orf37	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7106363	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	COSMIC,ICGC,
chr6	3120617	3120617	C	T	intronic	BPHL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr3	24932514	24932514	C	T	intergenic	MIR4792,RARB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,mortality/aging	-,Microphthalmia and diaphragmatic hernia|PDAC syndrome	ICGC,
chr8	5300595	5300595	C	T	intergenic	CSMD1,LOC100287015	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	Schizophrenia, association with |Hyperinsulinism|Autism|Attention deficit hyperactivity disorder ,-	ICGC,
chrX	75418125	75418125	C	A	intergenic	PBDC1,MAGEE1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9727748	-	RECA-EU|1|422|0.00237	-	-	-,-	-,-	COSMIC,ICGC,
chr16	34505904	34505904	C	T	intergenic	UBE2MP1,LOC283914	unknown	SNV	-	-	-	0.0032	rs541709528	-	0.00638978	-	-	COSN27140490	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr8	118251460	118251460	G	A	intergenic	SLC30A8,MED30	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	vision/eye phenotype,mortality/aging	Reduced enhancer activity|Potential protein deficiency|Increased insulin clearance|Higher proinsulin levels, association with|Diabetes, type 2, protection against |Diabetes, type 2, association with|Autoantibody specificity in T1D, association with|Autoantibody specificity in T1D,-	ICGC,
chr7	14826981	14826981	C	T	intronic	DGKB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	RECA-EU|1|422|0.00237	-	-	behavior/neurological phenotype	-	ICGC,
chr20	1038433	1038433	-	AT	intergenic	RSPO4,PSMF1	unknown	insertion	-	-	-	0.0850	rs141464756	-	0.0583067	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	Anonychia,-	ICGC,
chr15	58865526	58865526	G	A	intergenic	LIPC,ADAM10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	reproductive system phenotype,mortality/aging	Increased BMI, association with|Increased HDL cholesterol|Increased serum HDL-cholesterol, association with|Increased serum lipid levels, association with|Insulin sensitivity, association with|Low HDL cholesterol|Lower hepatic lipase activity|Potential protein deficiency|Serum lipid levels, association with|Total cholesterol levels|Hyperlipidaemia|Hypercholesterolaemia ?|Adiposity, severe|Carotid atherosclerosis, increased risk|Coronary artery disease, association with|Diabetes, type 2, association with|Dyslipidaemia and insulin resistance, association|HDL cholesterol level|HDL cholesterol levels|Hepatic lipase deficiency|Higher cholesterol in hyperlipidaemia, association|Hyperalphalipoproteinaemia,Reticulate acropigmentation of Kitamura|Alzheimer disease, late onset	ICGC,
chr1	71620758	71620758	T	A	ncRNA_intronic	ZRANB2-AS2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-	-	ICGC,
chr14	49704679	49704679	T	A	intergenic	LINC00648,RPS29	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23059854	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	COSMIC,ICGC,
chr15	81864060	81864060	A	G	intergenic	LOC101929655,MEX3B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6073935	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr11	132532081	132532081	A	C	intronic	OPCML	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8940872	-	ESAD-UK|1|301|0.00332	-	-	no phenotypic analysis	Autism spectrum disorder  	COSMIC,ICGC,
chr11	80432116	80432116	G	A	intergenic	TENM4,LOC101928944	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	-,-	ICGC,
chr8	59855015	59855015	T	G	intronic	TOX	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20540782	-	COCA-CN|1|321|0.00312	-	-	hematopoietic system phenotype	Pulmonary tuberculosis, association  with	COSMIC,ICGC,
chr8	6392913	6392913	A	C	intronic	ANGPT2,MCPH1	unknown	SNV	-	-	-	0.0085	rs372165330	-	-	-	-	-	-	SKCA-BR|3|100|0.03000	-	-	integument phenotype,mortality/aging	Tetralogy of Fallot,Primary microcephaly|Premature chromosome condensation syndrome|Microcephaly & mental retardation|Craniosynostosis-microcephaly with chromosomal breakage|Cranial volume, association with|Autism spectrum disorder	ICGC,
chr13	77206376	77206376	T	G	intergenic	LMO7DN,KCTD12	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr2	132149531	132149531	C	T	intergenic	WTH3DI,LINC01120	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr17	51667857	51667857	C	T	intergenic	C17orf112,KIF2B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr18	40557358	40557358	C	G	intronic	RIT2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6550453	-	PBCA-DE|1|499|0.00200	-	-	-	-	COSMIC,ICGC,
chr14	25373648	25373648	C	T	intronic	STXBP6	unknown	SNV	-	-	-	-	rs558498296	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-	-	ICGC,
chr2	35651736	35651736	G	C	intergenic	MYADML,LOC100288911	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chrX	78216943	78216943	C	A	exonic	P2RY10	nonsynonymous	SNV	0.003	0.615	-	-	-	-	-	-	-	COSM4923796	LIHC|1|373|0.00268	LIHC-US|1|189|0.00529	-	-	-	-	COSMIC,TCGA,ICGC,
chr3	78003275	78003275	C	G	intergenic	ROBO2,ROBO1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,mortality/aging	Autism spectrum disorder  |Urinary tract anomalies|Vesicoureteral reflux,Developmental dyslexia 	ICGC,
chr1	98297643	98297643	-	GTGTGTGT	intronic	DPYD	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|4|67|0.05970	-	-	-	Schizophrenia  |Reduced enzyme activity|Intellectual disability and autism|Intellectual disability  |Increased enzyme activity|Fluoropyrimidine-related toxicity, association with|Dihydropyrimidine dehydrogenase deficiency, partial|Dihydropyrimidine dehydrogenase deficiency|Autism spectrum disorder  	ICGC,
chr11	20685351	20685351	C	T	intergenic	SLC6A5,NELL1	unknown	SNV	-	-	-	0.7065	rs12576354	-	0.804313	-	0.812	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,mortality/aging	Phenotype modifier |Hyperekplexia,Crohn disease, association with	ICGC,
chr21	21607829	21607829	C	T	intergenic	LOC101927797,LINC00320	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr10	103935519	103935519	A	C	intergenic	NOLC1,ELOVL3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26836977	-	PRAD-FR|1|25|0.04000	-	-	-,integument phenotype	-,-	COSMIC,ICGC,
chr6	75799863	75799863	C	T	exonic	COL12A1	synonymous	SNV	-	-	0.0001	9.693e-05	rs181007051	0.0002	0.000199681	0.0003	-	COSM4673523	-	-	-	-	mortality/aging	Bethlem-like myopathy|Joint hypermobility syndrome with myopathy|Lung cancer, susceptibility to, association with	COSMIC,
chr2	49738334	49738334	C	T	intergenic	FSHR,NRXN1	unknown	SNV	-	-	-	0.0020	rs533943226	-	0.00279553	-	0.007	-	-	LIRI-JP|1|258|0.00388	-	-	integument phenotype,mortality/aging	Ovarian hyperstimulation syndrome|Ovarian hyperstimulation syndrome, association with|PCOS, association|PCOS, association with|Poor ovarian response to gonadotrophin stimulation, association|Premature ovarian failure|Premature ovarian failure, association with|Premature ovarian failure, early-onset|Primary amenorrhea|Reduced mRNA and protein expression, association with|Secondary amenorrhea|Serum FSH levels, association with|Sterility|Twinning, dizygotic|Ovarian hyperstimulation response, association with|Ovarian cancer, association with|Ovarian cancer susceptibility, association with|Decr. total testes volume and altered serum reproductive hormone levels, in men, association with.|Decreased promoter activity|Endometriosis risk, association with|Endometriosis, risk, association with|FSHR activation|FSHR inactivation|Hormone levels in PCOS, association with|Hypergonadotropic hypogonadism|Menstrual cycle, length, association with|Lower basal FSH level, association with|Increased serum FSH levels, association with|Increased promoter activity|Hypertension, female, association with|Hypergonadotropic ovarian failure,Hypotonia|Hypotonia & encephalopathy|Increased white matter volume, association with|Intellectual disability  |Intellectual disability & attention deficit hyperactivity disorder|Intellectual disability & hearing loss|Intellectual disability & pervasive developmental disorder|Intellectual disability and autism|Intellectual disability, nonsyndromic |Intellectual disability, seizures, dysmorphisms & language delay|Growth retardation  |Epilepsy, myoclonic seizures & speech delay|Developmental disorder|Developmental disorder & attention deficit hyperactivity disorder|Developmental disorder, seizures & attention deficit hyperactivity disorder|Developmental/intellectual disability, hypotonia & dysmorphic features|Disorder of muscle, ligament & fascia|Encephalopathy  |Epilepsy  |Epilepsy with cognitive impairment / autism spectrum disorder|Epilepsy with focal seizures|Epilepsy, generalised |Intellectual disability, seizures, language delay & hypotonia|Language delay|Learning difficulties|Respiratory distress & sepsis|Respiratory distress syndrome|Schizophrenia |Schizophrenia, childhood onset |Schizophrenia, disorganised type|Seizures, generalized tonic-clonic & attention deficit hyperactivity disorder|Sensory integration disorder & attention deficit hyperactivity disorder|Speech delay & social communication difficulties|Tourette syndrome|Pervasive developmental disorder / hypotonia|Pervasive developmental disorder|Pervasive developmental delay / mental retardation, lack of coordination & hearing loss|Learning difficulties, ADHD & autism|Mental retardation|Mental retardation, autism, vertebral malformations|Mental retardation, Pitt-Hopkins-like|Microcephaly & mental retardation|Multiple congenital anomalies  |Multiple disabilities|Myoclonic epilepsy   |Neurodevelopmental disorder  |Vertebral anomalies|Developmental delay, speech delay & social communication difficulties|Attention deficit hyperactivity disorder |Autism spectrum disorder, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability & language delay|Autism spectrum disorder, intellectual disability, dysmorphisms, developmental delay & language delay|Autism spectrum disorder, intellectual disability, seizures & developmental delay|Autism spectrum disorder, intellectual disability, seizures, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability, seizures, dysmorphisms & language delay|Autism spectrum disorder, seizures, developmental delay & language delay|Autism, intellectual disability & attention deficit hyperactivity disorder|Autistic disorder|Autism spectrum disorder with developmental & speech delay|Autism spectrum disorder & seizures|Autism spectrum disorder & language delay|Autism |Autism & learning difficulties|Autism & mental retardation|Autism & seizures|Autism spectrum disorder|Autism spectrum disorder & attention deficit hyperactivity disorder|Autism spectrum disorder & developmental delay|Autism spectrum disorder & dysmorphic features|Autism spectrum disorder & intellectual disability|Behavioural problems|Congenital heart defect  |Craniofacial dysmorphism|Developmental delay & speech/motor delay|Developmental delay with early-onset epilepsy|Developmental delay, dysmorphic features & short stature|Developmental delay, epilepsy, autism|Developmental delay, language delay & hypotonia|Developmental delay, learning difficulties, ADHD|Developmental delay, microcephaly & behavioural problems|Developmental delay, pulmonic stenosis & autism spectrum disorder|Developmental delay, short stature and diaphragmatic hernia|Developmental delay, speech delay & microcephaly|Developmental delay & seizures|Developmental delay & seizure disorder|Cystic hygroma, hydrops & micrognathia|Cystic hygroma, shortened upper limbs & fetal demise|Developmental & speech delay|Developmental delay|Developmental delay / autism|Developmental delay & autism|Developmental delay & dysmorphic features|Developmental delay & epilepsy|Developmental delay & hypotonia|Developmental delay & multiple congenital anomalies	ICGC,
chr2	113512116	113512116	A	C	intronic	CKAP2L	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr11	66062278	66062278	C	T	exonic	TMEM151A	synonymous	SNV	-	-	0	-	-	-	-	-	-	COSM3687539	-	COAD-US|1|254|0.00394	-	-	-	-	COSMIC,ICGC,
chr16	6226338	6226338	-	TT	intronic	RBFOX1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	mortality/aging	Muscular and feet abnormalities|Mental retardation|Epilepsy, rolandic  |Epilepsy|Developmental delay, facial dysmorphism  |Developmental delay and transposition of the great arteries|Developmental delay and diplegia|Developmental delay and craniosynostosis|Developmental delay  |Cardiac defects|Cardiac abnormalities, micrognathia and scoliosis|Autism spectrum disorder|Autism|Attention deficit hyperactivity disorder 	ICGC,
chr1	226517890	226517890	G	T	intergenic	LIN9,PARP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging,integument phenotype	-,Enhanced Hepatitis B virus replication|Gastric cancer, association with|Hippocampal volume loss, association with|Intellectual disability  |Loss of PR and ER expression in breast cancers|Non-Hodgkin lymphoma, reduced risk in males, association with|Prostate cancer, susceptibility, association with|Diabetic polyneuropathy, reduced risk, association with |Diabetic polyneuropathy, association with|Colorectal cancer, with high meat diet, association with|Asthma, reduced risk, association with|Bladder cancer, increased risk, association with|Breast cancer |Cancer risk, association with|Cervical carcinoma, increased risk|Colorectal adenoma, association with |Colorectal cancer, increased risk, association with	ICGC,
chr6	164729653	164729653	T	A	intergenic	QKI,C6orf118	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	mortality/aging,-	6q terminal deletion syndrome,-	ICGC,
chr7	153894372	153894372	G	A	intronic	DPP6	unknown	SNV	-	-	-	3.234e-05	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	nervous system phenotype	Autism spectrum disorder  |Schizophrenia  |Ventricular fibrillation, idiopathic 	ICGC,
chr22	19955894	19955894	G	A	intronic	COMT	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1259232	-	-	-	-	hematopoietic system phenotype	Preeclmpsia, association with|Preeclampsia, association with.|Preeclampsia, association with|Parkinson disease, earlier onset in males, association with|Panic disorder, association with|Osteoarthritis-related pain, association with|Obsessive-compulsive disorder, association with|Neurodegeneration within dopamine-innervated brain structures|Psychosis, in Alzheimer disease, association with.|Psychosis, in Alzheimer disease, in females, association with.|Psychotic and affective disorders, association with.|Violent behavior in schizophrenia, association with|Temporomandibular disorder|Suicide, protection against in males, association with |Serum alanine aminotransferase activity|Schizophrenia, heterozygote protective effect|Schizophrenia, association with|Schizoaffective disorder, association with|Reduced thermostability|Neural pain processing, association with|Lower blood pressure with green tea extract, association with|Bipolar affective disorder, association with|Attention-deficit/hyperactivity disorder, association with|Attention deficit hyperactivity disorder, association with.|ASD symptoms, with maternal smoking during pregnancy, association with|Anxiety-related personality traits, association with|Anxiety-related personality traits in women, association with|Altered enzyme activity|Aggressive personality traits, association with.|Brain activation in the left inferior frontal gyrus, association|Breast cancer, in premenopausal women, association with.|Breast cancer, reduced risk, association with|Low back pain, sciatica and disability after lumbar disc herniation|Increased translation rate|Increased cancer-related fatigue and pain sensitivity, in breast cancer survivors, association with.|Hypertension in men, association with|Generalized vitiligo, increased risk, association with|Cocaine dependence, association with|CKD in individuals with low serum LDL-cholesterol, association|Chromosome damage in breat cancer, association with	COSMIC,
chr3	45317541	45317541	C	T	intergenic	TMEM158,LARS2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	tumorigenesis,-	-,Diabetes, type 2, risk, association with |Perrault syndrome	ICGC,
chr12	56755468	56755468	C	G	exonic	APOF	nonsynonymous	SNV	0.106	0.233	-	-	-	-	-	-	-	COSM6580961	-	-	-	-	cellular phenotype	-	COSMIC,
chr16	31692549	31692549	A	G	intergenic	YBX3P1,CLUHP3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	ICGC,
chr2	49280966	49280966	G	A	intronic	FSHR	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22666847	-	BRCA-UK|1|141|0.00709,BRCA-EU|1|569|0.00176	-	-	integument phenotype	Ovarian hyperstimulation syndrome|Ovarian hyperstimulation syndrome, association with|PCOS, association|PCOS, association with|Poor ovarian response to gonadotrophin stimulation, association|Premature ovarian failure|Premature ovarian failure, association with|Premature ovarian failure, early-onset|Primary amenorrhea|Reduced mRNA and protein expression, association with|Secondary amenorrhea|Serum FSH levels, association with|Sterility|Twinning, dizygotic|Ovarian hyperstimulation response, association with|Ovarian cancer, association with|Ovarian cancer susceptibility, association with|Decr. total testes volume and altered serum reproductive hormone levels, in men, association with.|Decreased promoter activity|Endometriosis risk, association with|Endometriosis, risk, association with|FSHR activation|FSHR inactivation|Hormone levels in PCOS, association with|Hypergonadotropic hypogonadism|Menstrual cycle, length, association with|Lower basal FSH level, association with|Increased serum FSH levels, association with|Increased promoter activity|Hypertension, female, association with|Hypergonadotropic ovarian failure	COSMIC,ICGC,
chr10	18667706	18667706	G	A	intronic	CACNB2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging	Schizophrenia  |Rapid ventricular tachycardia & intraventricular conduction delay|Early repolarization syndrome|Cardiac arrhythmia|Brugada syndrome (shorter-than-normal QT interval)|Brugada syndrome|Aortic regurgutation|Altered function|Ventricular fibrillation, idiopathic	ICGC,
chr12	8692542	8692542	C	T	exonic	CLEC4E	synonymous	SNV	-	-	4.067e-06	-	rs755243353	8.268e-06	-	-	-	COSM3466203	SKCM|1|368|0.00272	SKCM-US|1|335|0.00299	-	-	hematopoietic system phenotype	-	COSMIC,TCGA,ICGC,
chr9	138068451	138068451	C	A	intergenic	OLFM1,LOC401557	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	reproductive system phenotype,-	-,-	ICGC,
chrX	4916782	4916782	G	A	intergenic	LOC101928201,NLGN4X	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Potential protein deficiency|Mental retardation|Kallmann syndrome and ichthyosis|Intellectual disability, short stature & hydrocephaly|Intellectual disability, Kallmann syndrome & ichthyosis|Intellectual disability, behavioural difficulties, ichthyosis & hypogonadotrophic hypogonadism|Intellectual disability, autism spectrum disorder & short stature|Developmental delay, hypospadias & ichthyosis|Developmental delay, autism spectrum disorder, micropenis & ichthyosis|Developmental delay  |Autism, association with|Autism and mental retardation|Autism 	ICGC,
chr3	26614649	26614649	G	A	intergenic	LINC00692,LRRC3B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,nervous system phenotype	-,-	ICGC,
chr4	16924625	16924625	C	T	intergenic	LDB2,QDPR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	normal phenotype,skeleton phenotype	-,Dihydropteridine reductase deficiency|Phenylketonuria	ICGC,
chr16	83640324	83640324	C	T	intronic	CDH13	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6096950	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging	Higher adiponectin levels|Amyotrophic lateral sclerosis 	COSMIC,COSMIC,ICGC,
chr13	94217045	94217045	G	A	intronic	GPC6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PAEN-AU|1|52|0.01923	-	-	-	Omodysplasia|Pancreatic cancer 	ICGC,
chr2	195760557	195760557	A	T	intergenic	LOC101927431,SLC39A10	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN14458285	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	COSMIC,ICGC,
chr5	61521049	61521049	A	C	intergenic	LOC100506526,KIF2A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8632642	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,Malformation of cortical development	COSMIC,ICGC,
chr5	37065256	37065256	-	C	UTR3	NIPBL	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN24301030	-	-	-	-	mortality/aging	Schizophrenia|Mental retardation, developmental delay & neurobehavioural abnormalities|Cornelia de Lange syndrome|Autism spectrum disorder|5p13 microduplication syndrome	COSMIC,COSMIC,
chr5	54245204	54245204	G	T	intergenic	LOC102467080,ESM1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr2	232816334	232816334	C	T	intergenic	NPPC,DIS3L2	unknown	SNV	-	-	-	0.0002	-	-	-	-	-	-	-	LAML-KR|1|205|0.00488,BRCA-EU|1|569|0.00176	-	-	mortality/aging,-	Skeletal overgrowth|Short stature|Overgrowth and bone anomalies|Blood pressure, association with,Perlman syndrome	ICGC,
chr9	139506458	139506458	G	C	intergenic	LOC101928483,EGFL7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	-,mortality/aging	-,Schizophrenia	ICGC,
chr19	43680054	43680054	A	T	exonic	PSG5	nonsynonymous	SNV	0.075	0.037	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr11	60640928	60640928	C	T	exonic	ZP1	nonsynonymous	SNV	0.001	1.0	8.132e-06	-	rs867762322	-	-	-	-	COSM4034467	STAD|1|395|0.00253,STES|1|395|0.00253	STAD-US|1|289|0.00346	-	-	hematopoietic system phenotype	Infertility 	COSMIC,TCGA,ICGC,
chr7	21894057	21894057	A	T	exonic	DNAH11	nonsynonymous	SNV	0.0	0.284	-	-	rs727502970	-	-	-	-	-	-	-	not_specified	-	hematopoietic system phenotype	Tetralogy of Fallot|Primary ciliary dyskinesia and situs inversus|Primary ciliary dyskinesia|Autism|Asthenozoospermia 	ClinVar,
chr15	96870815	96870815	G	A	intronic	NR2F2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging	Whole body insulin sensitivity, association with|Hypoplastic left heart syndrome|Cardiac abnormalities|Atrioventricular septum defects	ICGC,
chr20	61676483	61676483	T	A	ncRNA_intronic	LINC01056,LOC63930	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21123456	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr7	3416224	3416224	A	-	intronic	SDK1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	RECA-EU|1|422|0.00237	-	-	-	-	ICGC,
chr5	148160202	148160202	C	T	intergenic	HTR4,ADRB2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	mortality/aging,hematopoietic system phenotype	-,Lower cardiac output, association with|Intelligence, association with|Idiopathic ventricular outflow-tract tachycardia, association|Idiopathic ventricular arrhythmias, association with|Lower FEV(1)% and FEV(1)/FVC, association with|Myocardial infarction, association with|Obesity and diabetes type 2, association with|Obesity, association with|Receptor density and cardiac function|Sudden cardiac death, association with|Visceral fat accumulation, association with|Hypertensive cardiovascular disease, association with|Hypertension, increased risk, association with|Hypertension, association with|Altered effects on serum lipid and apolipoprotein ratios, after high-carbohydrate/low-fat diet, association with.|Alzheimer disease, association with|Asthma, nocturnal, association with|Asthma, noncontrolled, reduced risk, association with.|Chronic obstructive pulmonary disease, severity, association with|Chronic pain, association with|CKD in individuals with high serum triglycerides, association|Cystic fibrosis severity and bronchodilator response, association with|Decreased promoter activity|Eczema, atopic|Heart failure, poor survival, association with	ICGC,
chr15	39774467	39774467	A	G	intergenic	C15orf54,THBS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1675532	-	LIRI-JP|1|258|0.00388	-	-	-,integument phenotype	-,Small for gestational age, increased risk, association with|Pulmonary hypertension|Heart attack, association with|Coronary artery disease, association with	COSMIC,ICGC,
chr20	54008931	54008931	T	A	intergenic	DOK5,LINC01441	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr20	16315470	16315470	C	A	intronic	KIF16B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	mortality/aging	-	ICGC,
chr7	57749499	57749499	-	TGTGTATA	intergenic	ZNF716,NONE	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr12	122261411	122261411	G	A	exonic	SETD1B	stopgain	SNV	-	-	-	-	-	-	-	-	-	COSM6335728	-	LICA-CN|1|402|0.00249	-	-	-	-	COSMIC,COSMIC,ICGC,
chr21	25889250	25889250	A	G	intergenic	LOC101927869,LOC339622	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr7	42790440	42790440	G	A	intergenic	LINC01448,C7orf25	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373,MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr12	26098810	26098810	G	T	intergenic	MIR4302,RASSF8-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	ICGC,
chr3	75235383	75235383	C	T	intergenic	CNTN3,MIR4444-1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr17	1785778	1785778	G	A	intronic	RPA1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16164498	-	PRAD-CA|1|308|0.00325	-	-	mortality/aging	Altered mRNA folding	COSMIC,ICGC,
chr15	24025980	24025980	G	T	intergenic	NDN,PWRN2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1669874	-	LIRI-JP|1|258|0.00388	-	-	integument phenotype,-	-,-	COSMIC,ICGC,
chr16	5688374	5688374	G	T	intergenic	MIR8065,RBFOX1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,mortality/aging	-,Muscular and feet abnormalities|Mental retardation|Epilepsy, rolandic  |Epilepsy|Developmental delay, facial dysmorphism  |Developmental delay and transposition of the great arteries|Developmental delay and diplegia|Developmental delay and craniosynostosis|Developmental delay  |Cardiac defects|Cardiac abnormalities, micrognathia and scoliosis|Autism spectrum disorder|Autism|Attention deficit hyperactivity disorder 	ICGC,
chr6	102864804	102864804	T	A	intergenic	GRIK2,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	behavior/neurological phenotype,-	Mental retardation, non-syndromic, autosomal recessive,-	ICGC,
chr7	19010559	19010559	A	G	intronic	HDAC9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Peters' anomaly |Immunodeficiency, common variable, association with  	ICGC,
chr17	66903941	66903941	C	T	exonic	ABCA8	nonsynonymous	SNV	0.464	0.296	-	-	-	-	-	-	-	-	-	GACA-JP|1|585|0.00171	-	-	-	Potential protein deficiency|Low HDL cholesterol	ICGC,
chr13	104306613	104306613	G	A	intergenic	MIR548AS,DAOA-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr9	75125182	75125182	G	A	intergenic	ZFAND5,TMC1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	mortality/aging,integument phenotype	-,Nonsyndromic deafness, autosomal recessive|Hearing loss.|Hearing loss, nonsyndromic, autosomal recessive|Hearing loss|DFNB7/B11 deafness|DFNA36 hearing loss, association with|Deafness, non-syndromic, autosomal recessive|Deafness, non-syndromic, autosomal dominant|Deafness, non-syndromic |Deafness	ICGC,
chr19	21615694	21615694	G	T	intergenic	ZNF493,LINC00664	unknown	SNV	-	-	-	0.3572	rs2914649	-	0.264577	-	0.435	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr6	65855186	65855186	T	A	intronic	EYS	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19517593	-	-	-	-	-	Cone-rod dystrophy, autosomal recessive.|Leber congenital amaurosis|Retinitis pigmentosa|Retinitis pigmentosa, autosomal recessive |Retinitis pigmentosa, autosomal recessive/Leber congenital amaurosis	COSMIC,
chr8	38093859	38093859	C	G	intronic	DDHD2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	Intellectual disability|Spastic paraplegia  	ICGC,
chr17	77602876	77602876	C	A	intergenic	RBFOX3,MIR4739	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	integument phenotype,-	Developmental delay  |Epilepsy, rolandic  ,-	ICGC,
chr2	153570636	153570636	G	A	intronic	PRPF40A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr19	9038292	9038292	G	A	intronic	MUC16	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-	-	ICGC,
chr9	139305100	139305100	G	A	UTR5	PMPCA	unknown	SNV	-	-	1.884e-05	-	rs201914797	2.942e-05	0.000199681	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr2	18132492	18132492	C	T	intergenic	KCNS3,NT5C1B-RDH14	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	Airway hyperresponsiveness, association with ,-	ICGC,
chr1	224566822	224566822	G	C	UTR3	CNIH4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-JP|1|585|0.00171	-	-	-	-	ICGC,
chr7	120002792	120002792	C	T	intronic	KCND2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Epilepsy, temporal lobe	ICGC,
chr5	154326098	154326098	G	T	intronic	MRPL22	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr14	77608181	77608181	A	C	upstream	ZDHHC22	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr22	41828448	41828448	C	T	intergenic	TEF,TOB2	unknown	SNV	-	-	-	0.0003	rs768738158	-	-	-	-	COSN19470334	-	-	-	-	mortality/aging,hematopoietic system phenotype	-,-	COSMIC,
chr3	33525653	33525653	-	A	intergenic	UBP1,CLASP2	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN19393287	-	-	-	-	mortality/aging,cellular phenotype	-,Intellectual disability  	COSMIC,
chr13	105379405	105379405	C	T	intergenic	MIR548AS,DAOA-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr12	66781213	66781213	G	A	intronic	GRIP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Autism|Fraser syndrome|Schizophrenia and epilepsy	ICGC,
chr3	107981986	107981986	-	G	intergenic	IFT57,HHLA2	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN14709945	-	-	-	-	mortality/aging,-	-,-	COSMIC,
chr8	6806916	6806916	C	T	intergenic	DEFA4,DEFA8P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr13	26830118	26830118	G	A	intronic	CDK8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	-	ICGC,
chr15	57639754	57639754	GG	AA	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr11	97389730	97389730	-	A	intergenic	JRKL-AS1,MIR7976	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	ICGC,
chr8	108071452	108071452	G	C	intergenic	ABRA,ANGPT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	cardiovascular system phenotype,mortality/aging	-,Stroke, reduced risk, association with	ICGC,
chr16	30596555	30596555	T	G	exonic	ZNF785	nonsynonymous	SNV	0.002	0.969	-	-	-	-	-	-	-	-	-	GACA-JP|1|585|0.00171	-	-	-	-	ICGC,
chr20	33444392	33444392	C	-	intronic	GGT7	unknown	deletion	-	-	-	3.234e-05	-	-	-	-	-	-	-	GACA-JP|1|585|0.00171	-	-	-	-	ICGC,
chr4	46354309	46354309	T	A	intronic	GABRA2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	integument phenotype	-	ICGC,
chr11	132203272	132203272	T	G	intronic	NTM	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	Aortic aneurysm, thoracic & intracranial|Potential protein deficiency	ICGC,
chr1	34795413	34795413	T	G	intergenic	C1orf94,GJB5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,-	ICGC,
chr5	88296546	88296546	A	T	ncRNA_intronic	MEF2C-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24441786	-	GACA-CN|1|123|0.00813	-	-	-	-	COSMIC,ICGC,
chr6	54696782	54696782	-	CTTTTTTTTCTTT	intergenic	TINAG,FAM83B	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	Chronic renal failure, childhood-onset,-	ICGC,
chr11	92839790	92839790	A	C	intergenic	MTNR1B,SLC36A4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7292617	-	PACA-AU|1|391|0.00256	-	-	normal phenotype,-	Increased fasting glucose  & descreased HOMA-B, association with|Increased body mass/decreased fasting plasma glucose, association with|Impaired Gi protein-dependent signalling|Diabetes, type 2, increased risk, association with |Diabetes, type 2, association with|Diabetes, type 2 |Diabetes mellitus, gestational, association with|Altered receptor function  |Adolescent idiopathic scoliosis, association with ,-	COSMIC,ICGC,
chr2	221991220	221991220	G	A	intergenic	MIR4268,EPHA4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,reproductive system phenotype	-,Amyotrophic lateral sclerosis, reduced disease severity	ICGC,
chr2	2775399	2775399	G	A	intergenic	MYT1L,LINC01250	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9369178	-	OV-AU|1|93|0.01075	-	-	-,-	Schizophrenia, childhood onset  |Schizophrenia  |Intellectual disability, obesity, hyperphagia & behavioural difficulties|Intellectual disability, obesity & hyperactivity|Intellectual disability  |Brain malformations |Autism ,-	COSMIC,ICGC,
chr18	36401964	36401964	A	T	intergenic	MIR4318,LINC00669	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr19	22992064	22992064	C	T	intergenic	ZNF99,ZNF728	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Potential protein deficiency,-	ICGC,
chr18	68154851	68154851	G	A	intergenic	LOC101060542,GTSCR1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25201810	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	COSMIC,ICGC,
chr7	137826949	137826949	-	CATTAT	intergenic	MIR4468,TRIM24	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,cellular phenotype	-,-	ICGC,
chr5	114180904	114180904	C	T	intergenic	KCNN2,TRIM36	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	-,-	ICGC,
chr14	97592319	97592319	T	C	intergenic	LINC00618,LOC101929241	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr7	62303416	62303416	C	T	intergenic	NONE,ZNF733P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	109753001	109753001	C	G	intergenic	LOC100289673,TMEM232	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr10	130419947	130419947	GG	AA	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr8	37402213	37402213	C	T	intergenic	LOC100507420,ZNF703	unknown	SNV	-	-	-	0.0002	-	-	-	-	-	COSN20495689	-	COCA-CN|1|321|0.00312,EOPC-DE|1|202|0.00495,PACA-CA|2|268|0.00746	-	-	-,-	-,-	COSMIC,COSMIC,ICGC,
chr19	362306	362306	C	T	exonic	THEG	nonsynonymous	SNV	0.004	1.0	4.116e-06	3.231e-05	rs369121135	1.668e-05	-	7.7e-05	-	COSM4748287	-	PBCA-DE|1|499|0.00200	-	-	reproductive system phenotype	-	COSMIC,ICGC,
chr18	68857420	68857420	T	C	intergenic	GTSCR1,LOC100505776	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr2	10581667	10581667	C	A	exonic	ODC1	synonymous	SNV	-	-	-	-	-	-	-	-	-	-	BLCA|1|396|0.00253	-	-	-	mortality/aging	Increased expression|Recurrence of colonic adenoma, reduced risk	TCGA,
chr6	87037974	87037974	G	T	intergenic	SNHG5,HTR1E	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr4	174434888	174434888	A	T	intergenic	SCRG1,HAND2	unknown	SNV	-	-	-	3.229e-05	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-,mortality/aging	-,Congenital heart disease 	ICGC,
chr3	21097409	21097409	G	A	intergenic	LOC101927829,VENTXP7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	64245718	64245718	G	T	intronic	ROR1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26637785	-	LICA-CN|1|402|0.00249	-	-	mortality/aging	-	COSMIC,ICGC,
chr3	170035595	170035595	G	A	intergenic	PRKCI,SKIL	unknown	SNV	-	-	-	0.0002	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,mortality/aging	-,-	ICGC,
chr3	46433528	46433528	A	C	intergenic	CCR5,CCRL2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23435070	-	EOPC-DE|1|202|0.00495	-	-	mortality/aging,immune system phenotype	Kawasaki disease, reduced risk, association with|Low translational efficiency|Myocardial infarction, association with.|Myocardial infarction, protection against, association with.|Nonanastomotic biliary strictures after liver transplantation|Nonatopic asthma, reduced risk|Preeclampsia, association with|Preeclampsia, protection against, association with|Reduced antigen specificity|Rheumatoid arthritis, association with.|Tickborne encephalitis|Juvenile rheumatoid arthritis, reduced risk, assoc|Juvenile idiopathic arthritis, protection against|Inflammation-associated mortality in ESRD, protection, association|Acute rejection in kidney transplantation, association with|Acute rejection in liver transplantation, reduced risk, association|Altered function|Attenuated synovial bacterial load, association with|Celiac disease|Early clinical manifestation, in West Nile virus infection, association|High HDL cholesterol|HIV 1, resistance to, association with|HIV, reduced mortality, association with|Increased HIV1, perinatal transmission, association|Increased plasma HDL cholesterol, decreased triglycerides, association,AIDS & pneumocystis pneumonia, association with 	COSMIC,ICGC,
chr12	1125880	1125880	G	C	intronic	ERC1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging	Childhood apraxia of speech	ICGC,
chrX	104731659	104731659	G	A	intronic	IL1RAPL2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-AU|1|391|0.00256	-	-	-	-	ICGC,
chr16	57344157	57344157	G	C	intergenic	PLLP,CCL22	unknown	SNV	-	-	-	0.1894	rs12931915	-	0.204073	-	0.159	-	-	ESAD-UK|1|301|0.00332	-	-	-,nervous system phenotype	-,Atopic dermatitis susceptibility, association with|Helicobacter pylori-related gastric carcinoma, association with	ICGC,
chr2	189968984	189968987	ACTT	-	intronic	COL5A2	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	OV-AU|1|93|0.01075	-	-	integument phenotype	Spontaneous cervical artery dissections|Ehlers-Danlos syndrome II|Ehlers-Danlos syndrome I|Ehlers-Danlos syndrome|Cervical artery dissection, increased risk 	ICGC,
chr3	186989838	186989838	G	T	intronic	MASP1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21327562	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging	Haemolytic uraemic syndrome, atypical|Facial, umbilical, coccygeal & auditory anomalies|3MC syndrome	COSMIC,ICGC,
chr7	157067846	157067846	G	T	intergenic	UBE3C,DNAJB6	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24775707	-	GACA-CN|1|123|0.00813	-	-	-,mortality/aging	Autism|Short stature,Muscular dystrophy, limb girdle 1D|Muscular dystrophy, limb-girdle 1D|Myopathy	COSMIC,ICGC,
chr9	98079975	98079975	T	C	UTR5	FANCC	unknown	SNV	-	-	-	6.478e-05	-	-	-	-	-	-	-	-	Fanconi_anemia	-	hematopoietic system phenotype	T-cell acute lymphocytic leukaemia|Potential protein deficiency|Fanconi anaemia|Breast cancer  |Breast and/or ovarian cancer	ClinVar,
chr12	126668412	126668412	G	T	intergenic	LOC101927464,LOC100128554	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	NKTL-SG|1|50|0.02000	-	-	-,-	-,-	ICGC,
chrX	17849479	17849479	-	T	intronic	RAI2	unknown	insertion	-	-	-	0	-	-	-	-	-	-	-	OV-AU|1|93|0.01075	-	-	-	-	ICGC,
chrX	125659030	125659030	C	T	intergenic	DCAF12L2,DCAF12L1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr8	116263274	116263274	A	G	intergenic	CSMD3,TRPS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	Schizophrenia  |Colorectal cancer ,Tricho-rhino-phalangeal syndrome with supernumerary teeth|Tricho-rhino-phalangeal syndrome III|Tricho-rhino-phalangeal syndrome I|Tricho-rhino-phalangeal syndrome|Infantile scoliosis & developmental delay|Femoral neck width, association with|Ambras syndrome	ICGC,
chrX	151551978	151551978	A	G	intronic	GABRA3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	behavior/neurological phenotype	Decreased expression	ICGC,
chr2	210331398	210331398	C	T	intronic	MAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Autism spectrum disorder  	ICGC,
chr9	138198332	138198332	C	T	intergenic	LOC401557,C9orf62	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23834387	-	ORCA-IN|1|178|0.00562	-	-	-,-	-,-	COSMIC,ICGC,
chr13	55875697	55875697	T	G	intergenic	MIR5007,PRR20A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr4	70620923	70620923	-	G	exonic	SULT1B1	frameshift	insertion	-	-	-	-	-	-	-	-	-	-	-	COAD-US|1|254|0.00394	-	-	-	Schizophrenia	ICGC,
chrX	46307793	46307793	C	T	intronic	KRBOX4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr9	128321203	128321203	C	T	intronic	MAPKAP1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26331768	-	PRAD-UK|1|140|0.00714	-	-	mortality/aging	Breast cancer, non-BRCA1/BRCA2 related	COSMIC,ICGC,
chr1	220780513	220780513	A	G	intronic	MARK1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27061327	-	ESAD-UK|1|301|0.00332	-	-	-	-	COSMIC,ICGC,
chr14	73780394	73780396	TCC	-	intronic	NUMB	unknown	deletion	-	-	-	0.0047	-	-	-	-	-	-	-	LMS-FR|2|67|0.02985	-	-	mortality/aging	-	ICGC,
chr4	136763623	136763623	G	A	intergenic	PABPC4L,LINC00613	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26349093	-	PRAD-UK|1|140|0.00714	-	-	-,-	Autism spectrum disorder  ,-	COSMIC,ICGC,
chr3	188130070	188130070	C	T	intronic	LPP	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Tetralogy of Fallot & VACTERL association|Tetralogy of Fallot|Celiac disease, reduced risk	ICGC,
chr8	5953281	5953281	A	G	intergenic	CSMD1,LOC100287015	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	Schizophrenia, association with |Hyperinsulinism|Autism|Attention deficit hyperactivity disorder ,-	ICGC,
chr2	195253280	195253280	T	C	ncRNA_intronic	LOC101927406	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr4	189205721	189205721	C	T	intergenic	TRIML1,LINC01060	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr5	117354247	117354247	C	T	ncRNA_intronic	LOC102467224	unknown	SNV	-	-	-	3.236e-05	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr1	247832103	247832103	T	G	intergenic	OR2G3,OR13G1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17532821	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,Myocardial infarction, association with	COSMIC,ICGC,
chr1	146511438	146511438	G	C	ncRNA_intronic	LOC728989	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15746896	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr3	116558228	116558228	G	A	intergenic	TUSC7,LINC00901	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr11	63396726	63396726	C	T	UTR3	ATL3	unknown	SNV	-	-	-	3.229e-05	rs758580761	-	-	-	-	-	-	BRCA-EU|1|569|0.00176,PBCA-US|1|186|0.00538	-	-	-	Sensory neuropathy with bone destruction	ICGC,
chr1	16255687	16255687	G	A	exonic	SPEN	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM4892471	SKCM|1|368|0.00272	SKCM-US|1|335|0.00299,MELA-AU|1|183|0.00546	-	-	integument phenotype	-	COSMIC,TCGA,ICGC,
chr10	56561510	56561510	G	A	upstream	PCDH15	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	vision/eye phenotype	Usher syndrome II|Usher syndrome 1f|Usher syndrome 1|Lipid levels in hyperlipidaemia, association with|Hearing loss, non-syndromic|Deafness, non-syndromic, autosomal recessive|Deafness, non-syndromic |Deafness  	ICGC,
chr19	23980243	23980243	G	A	ncRNA_intronic	RPSAP58	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr12	48912988	48912988	C	T	intergenic	C12orf54,OR8S1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	129029562	129029562	A	C	intronic	ADAMTS19	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-	-	ICGC,
chr12	95936644	95936644	-	CT	intronic	USP44	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	NKTL-SG|1|50|0.02000	-	-	-	Congenital heart disease 	ICGC,
chr8	95539104	95539104	G	C	exonic	KIAA1429	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM6530450	-	-	-	-	-	Schizophrenia  	COSMIC,COSMIC,
chr20	60881373	60881373	G	A	exonic	ADRM1	nonsynonymous	SNV	0.19	0.025	-	-	-	-	-	-	-	COSM3548635	SKCM|1|368|0.00272	SKCM-US|1|335|0.00299	-	-	mortality/aging	-	COSMIC,TCGA,ICGC,
chr4	112358060	112358060	C	T	intergenic	PITX2,C4orf32	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Ring dermoid of the cornea|Rieger syndrome|Peter anomaly|Omphalocele, association with |Omphalocele|Iris hypoplasia|Iridogoniodysgenesis syndrome|Craniofacial/acallosal CNS midline defects|Axenfeld-Rieger syndrome|Anterior segment dysgenesis,-	ICGC,
chr4	72853975	72853975	T	C	intergenic	GC,NPFFR2	unknown	SNV	-	-	-	0.0143	rs28671498	-	0.019369	-	0.007	-	-	ESAD-UK|2|301|0.00664	-	-	skeleton phenotype,-	Vitamin D-binding protein levels, association with|Vitamin D affinity, association with|Lower plasma 25(OH)D concentration, association with|Graves disease, susceptibility to, association|Circulating 25-hydroxyvitamin D levels, association with|Asthma, increased risk, association with |25-hydroxyvitamin D levels, association with|25-hydroxyvitamin D and 1,25-dihydroxyvitamin D levels, association,Autism	ICGC,
chr5	2234072	2234072	G	T	intergenic	MIR548BA,LOC100506858	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8221076	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	COSMIC,ICGC,
chr5	165734742	165734742	C	A	intergenic	LOC102546299,CTB-7E3.1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr8	133357097	133357097	G	A	intronic	KCNQ3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2262321	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging	Seizures, benign infantile|Intellectual disability, nonsyndromic|Epilepsy, rolandic without neonatal seizures|Epilepsy, rolandic & benign neonatal convulsions|Epilepsy, idiopathic  |Epilepsy, benign neonatal|Benign familial neonatal convulsions	COSMIC,ICGC,
chr3	191570221	191570221	-	T	intergenic	LINCR-0002,FGF12	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,behavior/neurological phenotype	-,-	ICGC,
chr13	19271905	19271905	C	T	intergenic	NONE,LINC00417	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr6	129717451	129717451	A	G	intronic	LAMA2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	mortality/aging	Muscular dystrophy, merosin deficient|Myopathy with sarcotubular proliferation|Schizophrenia  |Tuberculoid leprosy, association with |Muscular dystrophy, limb girdle|Muscular dystrophy, congenital 1A.|Muscular dystrophy, congenital 1A, atypical|Muscular dystrophy, congenital 1A|Laminin alpha 2 chain deficiency, partial|Cardiomyopathy, dilated, type 1A	ICGC,
chr16	80271672	80271672	A	G	ncRNA_intronic	LOC102724084	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6096009	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr3	8324472	8324472	G	A	ncRNA_intronic	LMCD1-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr2	181045438	181045438	A	G	intergenic	CWC22,SCHLAP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr17	76045614	76045614	A	G	exonic	TNRC6C	synonymous	SNV	-	-	-	-	-	-	-	-	-	-	SARC|1|247|0.00405	-	-	-	-	Schizophrenia	TCGA,
chr8	97520748	97520748	T	C	intronic	SDC2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-	Systemic sclerosis, protection against, association with	ICGC,
chr10	33702897	33702897	G	A	intergenic	NRP1,LINC00838	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	-,-	ICGC,
chr12	41958638	41958638	A	G	intronic	PDZRN4	unknown	SNV	-	-	-	0.3036	rs56311508	-	0.278954	-	0.210	-	-	ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488	-	-	-	-	ICGC,
chr11	428490	428490	G	A	exonic	ANO9	synonymous	SNV	-	-	0.0002	6.472e-05	rs780774138	0.0002	-	-	-	COSM1978898	-	GACA-JP|1|585|0.00171	-	-	-	-	COSMIC,ICGC,
chr2	88178903	88178903	C	T	intronic	RGPD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-	-	ICGC,
chr14	72881845	72881845	G	A	intronic	RGS6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	cardiovascular system phenotype	Increased protein expression	ICGC,
chr14	41067965	41067965	G	A	intergenic	FBXO33,LOC644919	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr12	34631824	34631824	G	A	intergenic	ALG10,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr10	45351872	45351872	G	A	ncRNA_intronic	TMEM72-AS1	unknown	SNV	-	-	-	0.3139	rs7100768	-	0.30611	-	0.312	-	-	ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488	-	-	-	-	ICGC,
chr18	31319840	31319840	G	A	exonic	ASXL3	synonymous	SNV	-	-	0.0003	6.461e-05	rs368115045	0.0003	0.000399361	0.0004	-	COSM3378479	STAD|1|395|0.00253,STES|1|395|0.00253	PACA-CA|1|268|0.00373,STAD-US|1|289|0.00346	-	-	-	Bohring-Opitz like syndrome|Developmental delay, microcephaly, and craniofacial anomalies|Potential protein deficiency	COSMIC,COSMIC,TCGA,ICGC,
chr12	67719220	67719220	T	C	intergenic	CAND1,LOC100507175	unknown	SNV	-	-	-	0.7365	rs1066395	-	0.675519	-	0.717	-	-	ESAD-UK|1|301|0.00332,LAML-KR|2|205|0.00976	-	-	-,-	Potential protein deficiency,-	ICGC,
chr4	66016929	66016929	G	A	intergenic	LOC401134,EPHA5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,nervous system phenotype	-,Mental retardation|Dravet syndrome  |Attention deficit hyperactivity disorder & learning disabilities|Alzheimer disease  	ICGC,
chr5	72388534	72388534	G	T	intergenic	FCHO2,TMEM171	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	EOPC-DE|1|202|0.00495	-	-	-,-	-,-	ICGC,
chr5	27868928	27868928	-	ATAT	intergenic	LINC01021,LSP1P3	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|2|67|0.02985	-	-	-,-	-,-	ICGC,
chr17	78808751	78808751	C	T	intronic	RPTOR	unknown	SNV	-	-	-	3.228e-05	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	mortality/aging	Altered splicing |Macular degeneration, age related, protection against 	ICGC,
chr12	82335514	82335514	A	G	intergenic	PPFIA2,LOC101928449	unknown	SNV	-	-	-	0.6697	rs2082512	-	0.723442	-	0.674	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr4	30264980	30264980	A	C	intergenic	MIR4275,PCDH7	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21073037	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr18	10506658	10506658	C	T	intergenic	APCDD1,NAPG	unknown	SNV	-	-	-	0.4815	rs8090832	-	0.568091	-	0.333	COSN16984530	-	-	-	-	no phenotypic analysis,-	Hypotrichosis simplex  ,-	COSMIC,COSMIC,COSMIC,COSMIC,
chr16	33906217	33906217	A	G	intergenic	RNU6-76P,LINC00273	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7305842	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	COSMIC,COSMIC,ICGC,
chr5	4449603	4449603	A	C	intergenic	IRX1,LOC101929153	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr1	199627133	199627133	T	A	intergenic	LINC01222,NR5A2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24159730	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	-,mortality/aging	-,-	COSMIC,COSMIC,ICGC,
chr19	31602493	31602493	T	A	intergenic	ZNF536,TSHZ3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6142155	-	LIRI-JP|1|258|0.00388	-	-	-,integument phenotype	Schizophrenia,-	COSMIC,ICGC,
chr4	148345578	148345578	G	A	intergenic	TTC29,EDNRA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,mortality/aging	-,Reduced pulmonary function, in cystic fibrosis, association with|Myocardial infarction|Migraine, association with|Intracranial aneurysm, increased risk, association with|Hypertension, protection against, association with |Hernia, diaphragmatic |Congenital absence of the vas deferens, association with|Breast cancer, susceptibility to, association with|Adrenal hyperplasia, macronodular, ACTH-independent	ICGC,
chr19	32620290	32620290	A	T	intergenic	LOC101927411,ZNF507	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr21	17642612	17642612	T	C	ncRNA_intronic	LINC00478	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr5	125024206	125024206	C	T	intergenic	LOC101927460,LOC102546228	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2067226	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr3	178961634	178961634	T	A	intronic	KCNMB3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-	Epilepsy, association with|Potassium channel deficiency, association with	ICGC,
chr22	19122622	19122622	G	C	exonic	DGCR14	nonsynonymous	SNV	0.0	1.0	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	no phenotypic analysis	Autism	ICGC,
chr11	80055749	80055749	C	T	intergenic	TENM4,LOC101928944	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	-,-	ICGC,
chr1	8250037	8250037	G	A	intergenic	ERRFI1,SLC45A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-AU|1|391|0.00256	-	-	integument phenotype,-	-,-	ICGC,
chr1	152323556	152323556	C	T	exonic	FLG2	nonsynonymous	SNV	0.458	0.946	-	-	-	-	-	-	-	COSM3474098	SKCM|1|368|0.00272	SKCM-US|1|335|0.00299	-	-	-	Potential protein deficiency	COSMIC,TCGA,ICGC,
chr19	23557886	23557886	T	-	intronic	ZNF91	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	GACA-JP|2|585|0.00342	-	-	-	-	ICGC,
chr1	176639189	176639189	A	C	intronic	PAPPA2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN14966486	-	ESAD-UK|2|301|0.00664	-	-	hematopoietic system phenotype	-	COSMIC,ICGC,
chr5	5046074	5046074	C	A	ncRNA_intronic	LINC01020	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr14	25091165	25091165	T	A	intergenic	GZMH,GZMB	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9611219	-	RECA-EU|1|422|0.00237	-	-	-,mortality/aging	-,Vitiligo, generalized, association with|Increased expression in vitro, association with|Haemophagocytic lymphohistiocytosis, Epstein-Barr-virus-associated|Haemophagocytic lymphohistiocytosis,  Epstein-Barr-virus-associated|Apoptosis, unable to induce, association with	COSMIC,ICGC,
chr6	33333333	33333333	G	A	intergenic	DAXX,KIFC1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24411444	GBM|2|290|0.00690,GBMLGG|2|820|0.00244,KIPAN|1|799|0.00125,KIRC|1|451|0.00222	GBM-US|2|276|0.00725,KIRC-US|1|408|0.00245	-	-	mortality/aging,-	-,-	COSMIC,COSMIC,COSMIC,COSMIC,COSMIC,COSMIC,COSMIC,COSMIC,COSMIC,COSMIC,COSMIC,COSMIC,COSMIC,COSMIC,COSMIC,COSMIC,COSMIC,COSMIC,TCGA,ICGC,
chr12	130354035	130354035	A	G	intronic	TMEM132D	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1563313	-	LIRI-JP|1|258|0.00388	-	-	-	Panic disorder  	COSMIC,ICGC,
chr4	74362900	74362900	C	T	intronic	AFM	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	other phenotype	-	ICGC,
chr12	81615066	81615066	C	T	intronic	ACSS3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr12	42491146	42491146	G	C	intronic	GXYLT1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9560307	-	OV-AU|1|93|0.01075	-	-	-	-	COSMIC,ICGC,
chr8	69541639	69541639	A	T	intronic	C8orf34	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17093798	-	-	-	-	-	-	COSMIC,
chr2	151155260	151155260	T	C	intergenic	LOC101929231,RND3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,mortality/aging	-,-	ICGC,
chr18	36015488	36015488	A	C	intergenic	MIR4318,LINC00669	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr4	97619995	97619995	A	G	intergenic	PDHA2,STPG2-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	ICGC,
chr3	3359500	3359500	G	T	intergenic	CRBN,LRRN1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23864815	-	ORCA-IN|1|178|0.00562	-	-	behavior/neurological phenotype,behavior/neurological phenotype	Mental retardation, non-syndromic, autosomal recessive,-	COSMIC,ICGC,
chr6	68112372	68112372	T	G	intergenic	SLC25A51P1,BAI3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr19	47823763	47823763	G	A	exonic	C5AR1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	SKCM|1|368|0.00272	-	-	-	mortality/aging	-	TCGA,
chr12	120342616	120342616	C	T	intergenic	CIT,CCDC64	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	-,-	ICGC,
chr15	75647110	75647110	T	C	exonic	NEIL1	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM6724335	-	-	-	-	integument phenotype	Altered splicing |Potential protein deficiency|Reduced activity	COSMIC,
chrX	81549558	81549558	C	T	intergenic	SH3BGRL,POU3F4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,X-linked mixed deafness|X-linked deafness|Sensorineural hearing loss  |Mixed hearing loss |Hearing loss, X-linked nonsyndromic|Hearing loss & mental retardation	ICGC,
chr14	87914541	87914541	C	T	intergenic	LOC283585,GALC	unknown	SNV	-	-	-	3.629e-05	-	-	-	-	-	COSN19586496	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,Krabbe disease, association with|Krabbe disease|Glaucoma, primary open-angle|Glaucoma, primary open angle	COSMIC,ICGC,
chr12	58350599	58350599	C	T	exonic	XRCC6BP1	nonsynonymous	SNV	0.009	1.0	-	-	-	-	-	-	-	COSM5941360	-	-	-	-	-	-	COSMIC,
chr4	45980230	45980230	C	T	intergenic	GNPDA2,GABRG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr22	37015333	37015333	G	A	intronic	CACNG2	unknown	SNV	-	-	-	3.227e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Intellectual disability, nonsyndromic|Schizophrenia	ICGC,
chr19	42801471	42801473	TTC	-	exonic	PAFAH1B3	nonframeshift	deletion	-	-	-	-	-	-	-	-	-	-	SKCM|1|368|0.00272	SKCM-US|1|335|0.00299	-	-	reproductive system phenotype	Mental retardation, ataxia & atrophy of the brain	ICGC,
chr1	224588366	224588366	G	T	intronic	WDR26	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr8	15268379	15268379	C	T	intergenic	SGCZ,TUSC3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,-	Cervical artery dissection,Mental retardation, non-syndromic, autosomal recessive|Intellectual disability, syndromic  |Intellectual disability, nonsyndromic, autosomal recessive|Intellectual disability & autism|Attention deficit hyperactivity disorder 	ICGC,
chr1	176349436	176349436	C	T	intergenic	RFWD2,PAPPA2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,hematopoietic system phenotype	Autism spectrum disorder  ,-	ICGC,
chr7	78749317	78749317	A	C	intronic	MAGI2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	mortality/aging	Seizures|Schizophrenia|Myoclonic epilepsy |Infantile spasms in Williams-Beuren syndrome|Infantile spasms|Developmental delay & microcephaly|Developmental delay  |Developmental and/or speech and/or behavioural problems	ICGC,
chr7	115723698	115723698	C	T	intergenic	TFEC,TES	unknown	SNV	-	-	-	0.1275	rs7804495	-	0.126198	-	0.181	-	-	ESAD-UK|1|301|0.00332,LICA-CN|1|402|0.00249	-	-	integument phenotype,digestive/alimentary phenotype	-,-	ICGC,
chr3	80349960	80349960	C	T	intergenic	ROBO1,GBE1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	CMDI-UK|1|136|0.00735	-	-	mortality/aging,mortality/aging	Developmental dyslexia ,Potential protein deficiency|Polyglucosan body disease, relapsing-remitting form|Polyglucosan body disease, adult|Lethal multiple pterygium syndrome|Glycogen storage disease 4, non-lethal neuromuscular|Glycogen storage disease 4, neonatal|Glycogen storage disease 4|Autism spectrum disorder|Adult polyglucosan body disease	ICGC,
chr7	126929152	126929152	C	T	intergenic	GRM8,ZNF800	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	EOPC-DE|1|202|0.00495	-	-	behavior/neurological phenotype,-	Attention deficit hyperactivity disorder|Autism spectrum disorder  ,-	ICGC,
chr3	47945657	47945657	C	T	intronic	MAP4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20609694	-	BRCA-EU|1|569|0.00176	-	-	normal phenotype	Autism spectrum disorder	COSMIC,ICGC,
chr4	3875190	3875190	C	T	intergenic	ADRA2C,FAM86EP	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,-	Impaired coupling, association with|Dilated cardiomyopathy survival, association with|Antipsychotic treatment, association with ,-	ICGC,
chr12	93570604	93570604	C	T	ncRNA_intronic	LOC102724933,LOC643339	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr17	71109630	71109630	C	T	intergenic	SLC39A11,SSTR2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,vision/eye phenotype	-,Breast cancer, descreased risk, association with|Head and neck cancer, second primary tumour, association|Reduced transcription	ICGC,
chr10	99559634	99559634	C	T	intergenic	SFRP5,LINC00866	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	-,-	ICGC,
chr11	90854676	90854676	A	T	intergenic	DISC1FP1,FAT3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,vision/eye phenotype	-,Autism spectrum disorder	ICGC,
chr21	37194461	37194461	C	A	intergenic	MIR802,LOC101928269	unknown	SNV	-	-	-	0.6936	rs9983707	-	0.653954	-	0.797	-	-	LAML-KR|1|205|0.00488	-	-	-,-	-,-	ICGC,
chr4	22222343	22222343	C	A	intergenic	KCNIP4,LOC100505912	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23695816	-	ESAD-UK|1|301|0.00332	-	-	-,-	Renal cell carcinoma ,-	COSMIC,ICGC,
chr21	25004094	25004094	A	G	intergenic	D21S2088E,LOC101927869	unknown	SNV	-	-	-	0.2760	rs1573328	-	0.358427	-	0.362	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr13	71364417	71364417	A	T	intergenic	ATXN8OS,LINC00348	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	behavior/neurological phenotype,-	Huntington disease  |Spinocerebellar ataxia 8,-	ICGC,
chr3	196407878	196407878	G	C	intergenic	NRROS,CEP19	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21867922	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,Obesity, morbid	COSMIC,ICGC,
chr11	60353128	60353128	A	G	intergenic	MS4A13,LINC00301	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	-,-	-,-	ICGC,
chrX	126677708	126677708	T	G	intergenic	PRR32,ACTRT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|2|301|0.00664	-	-	-,-	-,-	ICGC,
chr16	49204171	49204171	T	A	intergenic	N4BP1,CBLN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	no phenotypic analysis,behavior/neurological phenotype	-,-	ICGC,
chr1	111222827	111222827	-	CTG	intergenic	KCNA3,CD53	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	growth/size phenotype,-	Decreased olfactory function|Decreased promoter activity|Low insulin sensitivity, association with,-	ICGC,
chr21	16848448	16848448	G	A	intergenic	NRIP1,USP25	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	reproductive system phenotype,hematopoietic system phenotype	Lung cancer, susceptibility to, association with,-	ICGC,
chr4	136698429	136698429	A	G	intergenic	PABPC4L,LINC00613	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	Autism spectrum disorder  ,-	ICGC,
chrX	25473303	25473303	G	A	intergenic	ARX,MAGEB18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Infantile spasms & intellectual disability|Intellectual disability & dystonia|Intellectual disability, X-linked|Lissencephaly, X-linked, with abnormal genitalia|Mental retardation|Mental retardation and epilepsy|Neurodegeneration   |Neurodegeneration with Ohtahara syndrome and mov disord|Ohtahara syndrome|Ohtahara syndrome with developmental delay|Partington syndrome|Infantile spasm syndrome, X-linked|Generalized dystonia without infantile spasms|ACC, epilepsy, abnormal genitalia|ACC, infantile spasms & abnormal genitalia|ACC, lissencephaly, seizures & genital hypoplasia|ACC, mental retardation, epilepsy & dyskinetic quadriparesis|Asymmetric polymicrogyria & periventricular nodular heterotopia|Autism spectrum disorder|Developmental delay and early hand preference.|Epilepsy, early-onset|Epilepsy, early-onset.|Epileptic encephalopathy, early infantile|Epileptic encephalopathy, early onset,-	ICGC,
chr6	66828150	66828150	A	G	intergenic	SLC25A51P1,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24531962	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	COSMIC,ICGC,
chrX	38406285	38406285	T	A	intergenic	OTC,TSPAN7	unknown	SNV	-	-	-	0.2464	rs5963065	-	0.337219	-	0.261	-	-	LAML-KR|1|205|0.00488	-	-	integument phenotype,-	Alzheimer disease, association with|Hyperammonaemia|Ornithine transcarbamylase deficiency|Ornithine transcarbamylase deficiency & chronic granulomatous disease,Rolandic epilepsy |Oligozoospermia|Mental retardation, X-linked|Intellectual disability, nonsyndromic X-linked	ICGC,
chr17	78349610	78349610	G	A	exonic	RNF213	synonymous	SNV	-	-	-	-	-	-	-	-	-	-	PRAD|1|499|0.00200	-	-	-	-	Ovarian cancer |Moyamoya disease 	TCGA,
chr2	22684406	22684406	C	A	intergenic	LOC645949,LOC102723362	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	ICGC,
chr17	18421312	18421312	T	-	ncRNA_intronic	USP32P2	unknown	deletion	-	-	-	0	rs199663403	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr13	85708015	85708015	C	T	intergenic	LINC00333,LINC00351	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr8	112736808	112736808	T	C	intergenic	KCNV1,CSMD3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9589520	-	OV-AU|1|93|0.01075	-	-	behavior/neurological phenotype,-	-,Schizophrenia  |Colorectal cancer 	COSMIC,COSMIC,ICGC,
chr6	63874272	63874272	G	A	intergenic	KHDRBS2,LGSN	unknown	SNV	-	-	-	0.0004	rs538321830	-	0.00219649	-	-	-	-	PACA-CA|1|268|0.00373,SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr14	106414458	106414458	-	CCATCCAA	intergenic	KIAA0125,ADAM6	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN19565076	-	-	-	-	-,-	-,-	COSMIC,
chr9	120176874	120176874	C	T	exonic	ASTN2	nonsynonymous	SNV	0.021	0.893	-	-	-	-	-	-	-	-	-	GACA-JP|1|585|0.00171	-	-	-	Autism spectrum disorder |Intellectual disability  |Schizophrenia  	ICGC,
chr8	137967018	137967018	A	G	intergenic	KHDRBS3,FAM135B	unknown	SNV	-	-	-	0.0005	rs184818600	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	ICGC,
chr11	3615414	3615414	T	C	intergenic	LOC650368,TRPC2	unknown	SNV	-	-	-	0.2577	rs11028337	-	0.290735	-	0.065	COSN17939286	-	SKCA-BR|1|100|0.01000	-	-	-,hematopoietic system phenotype	-,-	COSMIC,ICGC,
chr9	16957605	16957605	G	C	intergenic	BNC2,CNTLN	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21215103	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging,-	Total anomalous pulmonary venous return |Partial anomalous pulmonary venous return |Hypospadias & partial anomalous pulmonary venous return |Hypospadias ,-	COSMIC,ICGC,
chr6	372768	372768	G	A	intergenic	DUSP22,IRF4	unknown	SNV	-	-	-	0.0005	rs368295506	-	0.000599042	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,hematopoietic system phenotype	Cleft palate, hearing impairment, microcephaly, micrognathia and psychomotor retardation,Systemic sclerosis, association with|Skin cancer, increased risk, association with|High nevus count in adolescents, association|Freckles, brown hair and sun sensitivity, association with|Chronic lymphocytic leukaemia  |Acute lymphoblastic leukaemia, in males, association with	ICGC,
chr2	14899638	14899638	G	A	intergenic	LOC653602,NBAS	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Short stature, optic atrophy & Pelger-Huet 	ICGC,
chr2	6251255	6251255	G	A	intergenic	LOC400940,LINC01247	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr11	119658116	119658116	T	C	intergenic	LOC102724301,TRIM29	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15480316	-	OV-AU|1|93|0.01075	-	-	-,-	-,-	COSMIC,COSMIC,ICGC,
chr1	245530370	245530370	C	T	exonic	KIF26B	unknown	SNV	0.0	1.0	4.502e-06	-	rs771458523	0	-	-	-	COSM4696080	-	-	-	-	mortality/aging	-	COSMIC,COSMIC,COSMIC,
chr14	21187223	21187223	T	C	intergenic	RNASE4,EDDM3A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	NKTL-SG|1|50|0.02000	-	-	-,-	-,-	ICGC,
chr3	73399631	73399631	-	GTGTGA	intergenic	PPP4R2,PDZRN3	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|3|67|0.04478	-	-	-,-	-,-	ICGC,
chr9	122334460	122334460	G	A	intergenic	BRINP1,MIR147A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr1	194396613	194396613	G	A	intergenic	CDC73,KCNT2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype,-	Potential protein deficiency|Parathyroid carcinoma/adenoma|Parathyroid carcinoma.|Parathyroid carcinoma|Parathyroid cancer|Parathyroid adenoma.|Parathyroid adenoma |Hyperparathyroidism, primary.|Hyperparathyroidism, primary|Hyperparathyroidism, isolated|Hyperparathyroidism-jaw tumour syndrome.|Hyperparathyroidism-jaw tumour syndrome,-	ICGC,
chr3	133098931	133098931	T	A	exonic	TMEM108	nonsynonymous	SNV	0.06	0.017	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-	-	ICGC,
chr13	35842730	35842730	G	A	intronic	NBEA	unknown	SNV	-	-	-	9.719e-05	rs377287744	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype	Autism, idiopathic|Schizophrenia|Tetralogy of Fallot	ICGC,
chr1	161369581	161369581	C	T	intergenic	C1orf192,FCGR2A	unknown	SNV	-	-	-	0.0059	rs146931885	-	0.00638978	-	0.007	COSN8965533	-	ESAD-UK|1|301|0.00332	-	-	normal phenotype,mortality/aging	-,Kawasaki disease, susceptibility to|Lupus nephritis, protection against, association|Potential protein deficiency|Rheumatoid arthritis, association with|Severe falciparum malaria|Severe sepsis in community-acquired pneumonia, association with|Still's disease, chronic articular-type, association|Ulcerative colitis, association with|Unstable angina pectoris, association with|Kawasaki disease, association with.|Inflammatory bowel disease, association with|Infectious diseases, association with|Acute coronary syndromes, association with|Anaphylaxis, in hypogammaglobulinaemia, association with|Colorectal cancer progression, association with|Coronary heart disease, association with|Idiopathic pulmonary fibrosis severity and progression, association with|Immunoglobulin binding variant|Improved endothelial function in hypercholesterolaemia, association with|Increased risk of inhibitor development in haemophilia A patients, association with|Increased signal transduction activity	COSMIC,ICGC,
chr4	33101308	33101308	GG	AT	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr5	8853000	8853000	A	T	ncRNA_intronic	LOC101929284	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9959498	-	RECA-EU|1|422|0.00237	-	-	-	-	COSMIC,ICGC,
chr6	53850096	53850096	C	A	intergenic	LRRC1,MLIP-IT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chrX	124087548	124087548	G	A	intronic	TENM1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	Schizophrenia  	ICGC,
chr11	127546991	127546991	A	G	intergenic	LOC101929497,ETS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,Systemic lupus erythematosus, association with	ICGC,
chr13	77932777	77932777	G	A	intergenic	MYCBP2,SCEL	unknown	SNV	-	-	-	6.467e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,normal phenotype	Autism,-	ICGC,
chr11	101230445	101230445	G	A	intergenic	LOC101054525,TRPC6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Steroid resistant nephrotic syndrome, association with|Pyloric stenosis, infantile hypertrophic, association with|Pulmonary arterial hypertension, association with|Podocytopathy|Nephrotic syndrome, steroid resistant |Focal segmental glomerulosclerosis |Collapsing glomerulosclerosis	ICGC,
chr20	44258495	44258495	C	T	exonic	WFDC10A	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM286528	COAD|1|367|0.00272,COADREAD|1|489|0.00204	-	-	-	-	-	COSMIC,TCGA,
chr4	115430105	115430105	T	A	intergenic	ARSJ,UGT8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,Musical ability, association with	ICGC,
chr4	152291257	152291257	C	T	intergenic	PRSS48,FAM160A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	Potential protein deficiency,-	ICGC,
chr3	183547058	183547058	C	T	downstream	PARL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging	Parkinson disease  |Mitochondrial content, association with|Increased plasma insulin levels, association with|Earlier age of onset, in type 2 diabetes, association with	ICGC,
chr17	59175204	59175204	A	C	intronic	BCAS3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr11	49546968	49546968	G	C	intergenic	FOLH1,LOC440040	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8682629	-	OV-AU|1|93|0.01075	-	-	behavior/neurological phenotype,-	Reduced serum folate|Prostate cancer, protection against, association|Prostate cancer, association with |Increased risk of CAD & miscarriage and reduced risk of autism & cancer, association with|Increased plasma folate levels, association with|Altered plasma folate concentration, association with,-	COSMIC,ICGC,
chr18	5616022	5616022	C	T	intronic	EPB41L3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN18916293	-	-	-	-	mortality/aging	Potential protein deficiency	COSMIC,
chr4	114893448	114893448	-	A	intronic	ARSJ	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	-	-	ICGC,
chr2	61565015	61565033	ATATGGAGAGTACAAATTA	-	intronic	USP34	unknown	deletion	-	-	-	-	-	-	-	-	-	COSN26322479	-	PRAD-UK|1|140|0.00714	-	-	-	Congenital heart disease 	COSMIC,ICGC,
chr1	4650271	4650271	C	T	intergenic	LOC284661,AJAP1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27847024	-	UTCA-FR|1|20|0.05000	-	-	-,-	-,-	COSMIC,COSMIC,ICGC,
chr8	78589841	78589841	A	T	intergenic	PEX2,PKIA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,normal phenotype	Zellweger syndrome|Refsum disease, infantile|Peroxisome biogenesis disorder|Cerebellar ataxia, autosomal recessive,-	ICGC,
chr4	169245170	169245170	C	T	intergenic	DDX60,DDX60L	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr18	20745494	20745494	-	C	intronic	CABLES1	unknown	insertion	-	-	-	6.505e-05	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	reproductive system phenotype	-	ICGC,
chr3	142840331	142840331	C	A	exonic	CHST2	nonsynonymous	SNV	0.147	0.99	-	-	-	-	-	-	-	COSM5692080	-	-	-	-	immune system phenotype	-	COSMIC,
chr10	10423902	10423902	T	C	intergenic	LOC101928298,LOC101928322	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr12	33466159	33466159	G	A	intergenic	PKP2,SYT10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,behavior/neurological phenotype	Sudden cardiac death  |Potential protein deficiency|Cardiomyopathy, dilated|Cardiomyopathy, arrhythmogenic, left-dominant|Cardiomyopathy, arrhythmogenic right ventricular|Brugada syndrome    |Arrhythmogenic right ventricular dysplasia/cardiomyopathy.|Arrhythmogenic right ventricular dysplasia/cardiomyopathy|Arrhythmogenic right ventricular dysplasia|Arrhythmogenic right ventricular cardiomyopathy.|Arrhythmogenic right ventricular cardiomyopathy, asymptomatic|Arrhythmogenic right ventricular cardiomyopathy|Sudden unexpected death with negative autopsy,-	ICGC,
chr12	23882553	23882553	C	A	intronic	SOX5	unknown	SNV	-	-	-	9.695e-05	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Intellectual disability  |Developmental delays|Autism spectrum disorder  	ICGC,
chr2	140807440	140807440	G	A	intergenic	YY1P2,LRP1B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|2|100|0.02000	-	-	-,mortality/aging	-,Schizophrenia   	ICGC,
chr5	119119196	119119196	G	C	intergenic	FAM170A,PRR16	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21665135	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chrX	18276320	18276320	G	A	exonic	SCML2	nonsynonymous	SNV	0.046	0.409	5.598e-06	-	rs765570208	1.141e-05	-	-	-	COSM4399235	SKCM|1|368|0.00272	SKCM-US|1|335|0.00299	-	-	-	-	COSMIC,TCGA,ICGC,
chr11	56355110	56355110	T	G	intergenic	OR5M10,OR5M1	unknown	SNV	-	-	-	0.1554	rs11228665	-	-	-	-	COSN15312667	-	-	-	-	-,-	-,-	COSMIC,
chr14	101175980	101175980	C	T	intergenic	LINC00523,DLK1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,-	ICGC,
chr3	182486485	182486485	A	G	intergenic	FLJ46066,ATP11B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25354372	-	MALY-DE|1|241|0.00415	-	-	-,-	-,Autism spectrum disorder	COSMIC,ICGC,
chr2	49367067	49367067	A	G	intronic	FSHR	unknown	SNV	-	-	-	3.231e-05	-	-	-	-	-	COSN1239683	-	LINC-JP|1|394|0.00254	-	-	integument phenotype	Ovarian hyperstimulation syndrome|Ovarian hyperstimulation syndrome, association with|PCOS, association|PCOS, association with|Poor ovarian response to gonadotrophin stimulation, association|Premature ovarian failure|Premature ovarian failure, association with|Premature ovarian failure, early-onset|Primary amenorrhea|Reduced mRNA and protein expression, association with|Secondary amenorrhea|Serum FSH levels, association with|Sterility|Twinning, dizygotic|Ovarian hyperstimulation response, association with|Ovarian cancer, association with|Ovarian cancer susceptibility, association with|Decr. total testes volume and altered serum reproductive hormone levels, in men, association with.|Decreased promoter activity|Endometriosis risk, association with|Endometriosis, risk, association with|FSHR activation|FSHR inactivation|Hormone levels in PCOS, association with|Hypergonadotropic hypogonadism|Menstrual cycle, length, association with|Lower basal FSH level, association with|Increased serum FSH levels, association with|Increased promoter activity|Hypertension, female, association with|Hypergonadotropic ovarian failure	COSMIC,ICGC,
chr15	20442836	20442836	T	C	intergenic	NONE,CHEK2P2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23557867	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr1	237150461	237150461	A	T	intergenic	MTR,MT1HL1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25745442	-	EOPC-DE|1|202|0.00495	-	-	mortality/aging,-	Bladder cancer, increased risk, association with|Spina bifida, increased risk in offspring, association|Reduced plasma homocysteine levels, association with|Ovarian cancer, association with.|Micronucleated lymphocytes, increased frequency, association with|Methionine synthase deficiency|Longer telomere length, association with|Leukemia risk|Homocystinuria.|Homocystinuria|Glioblastoma, association with|Coronary artery disease in smokers, association|Colorectal cancer, increased risk, association with,-	COSMIC,ICGC,
chr7	68281313	68281313	-	AAAA	intergenic	LOC102723427,LOC100507468	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr3	81404567	81404567	A	G	intergenic	ROBO1,GBE1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1965697	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging,mortality/aging	Developmental dyslexia ,Potential protein deficiency|Polyglucosan body disease, relapsing-remitting form|Polyglucosan body disease, adult|Lethal multiple pterygium syndrome|Glycogen storage disease 4, non-lethal neuromuscular|Glycogen storage disease 4, neonatal|Glycogen storage disease 4|Autism spectrum disorder|Adult polyglucosan body disease	COSMIC,ICGC,
chr8	145722746	145722746	G	A	exonic	PPP1R16A	nonsynonymous	SNV	0.594	0.002	-	-	-	-	-	-	-	COSM3924900	SKCM|1|368|0.00272	SKCM-US|1|335|0.00299	-	-	-	-	COSMIC,TCGA,ICGC,
chr5	12381792	12381792	C	A	intergenic	CTNND2,LINC01194	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	behavior/neurological phenotype,-	Schizophrenia  |Lennox-Gastaut syndrome |Autism spectrum disorder|Anorectal malformation|Altered localisation,-	ICGC,
chr10	131015378	131015378	G	T	intergenic	LINC01163,MGMT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,MGMT methylation in malignant pleural mesothelioma, association with|Non-Hodgkin lymphoma, increased risk|Pancreatic cancer, increased risk, association with|Promoter methylation and longer survival in glioblastoma patients, association with|Promoter methylation in colorectal cancer |MGMT methylation in lung cancer, increased risk, association with|MGMT methylation in colorectal cancer, association with|Lung cancer, risk, association with|Glioblastoma, reduced risk, association with |Endometrial cancer risk, association with|Cervical carcinoma, increased risk, association with|Cancer, increased risk|Altered enzyme activity	ICGC,
chr1	71285583	71285583	C	A	intergenic	CTH,PTGER3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,integument phenotype	Hyperhomocysteinemia|Cystathioninuria|Cystathionine elevations |Altered homocysteine levels,-	ICGC,
chr11	109194227	109194227	T	C	intergenic	DDX10,C11orf87	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	Intellectual disability  ,-	ICGC,
chr4	107435192	107435192	G	A	intergenic	GIMD1,DKK2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,hematopoietic system phenotype	-,Schizophrenia, association with  	ICGC,
chr11	118517843	118517843	-	T	intronic	PHLDB1	unknown	insertion	-	-	-	3.233e-05	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-	Schizophrenia	ICGC,
chr2	210670152	210670152	T	C	intronic	UNC80	unknown	SNV	-	-	-	3.227e-05	-	-	-	-	-	-	-	PRAD-UK|1|140|0.00714	-	-	-	Autism 	ICGC,
chr12	128524435	128524435	G	C	intergenic	LINC00507,LOC100996679	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7315992	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	COSMIC,ICGC,
chr16	13537856	13537856	G	A	intergenic	SHISA9,ERCC4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Xeroderma pigmentosum (F)|Progeroid syndrome|Potential protein deficiency|Lung cancer, susceptibility to|Fanconi anaemia|Combined xeroderma pigmentosum, cockayne syndrome and fanconi anaemia|Cockayne syndrome|Breast cancer  |Breast and/or ovarian cancer|Bladder cancer, increased risk, association with	ICGC,
chr2	60687925	60687925	C	A	exonic	BCL11A	stopgain	SNV	-	-	-	-	-	-	-	-	-	COSM1408765	COAD|1|367|0.00272,COADREAD|1|489|0.00204	COAD-US|1|254|0.00394	-	-	mortality/aging	Increased foetal haemoglobin levels, association with|Autism	COSMIC,COSMIC,TCGA,ICGC,
chr6	97473924	97473924	G	A	intronic	KLHL32	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr5	46238273	46238273	T	C	intergenic	HCN1,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,-	Idiopathic epilepsy, generalised ,-	ICGC,
chr12	6933319	6933319	G	C	exonic	GPR162	nonsynonymous	SNV	0.001	1.0	-	-	-	-	-	-	-	-	BLCA|1|396|0.00253	-	-	-	-	-	TCGA,
chr12	61907239	61907239	G	A	intergenic	SLC16A7,FAM19A2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-,-	Autism spectrum disorder,-	ICGC,
chr6	20062330	20062330	C	T	intergenic	ID4,MBOAT1	unknown	SNV	-	-	-	3.231e-05	rs778975656	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging,-	-,-	ICGC,
chr3	38792630	38792632	CTT	-	intronic	SCN10A	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype	Atrial fibrillation & slow ventricular rates|Peripheral neuropathy, painful|QRS interval, association with |Small fibre neuropathy	ICGC,
chr21	31777775	31777775	A	T	intergenic	KRTAP13-1,KRTAP13-3	unknown	SNV	-	-	-	0.2080	rs2212303	-	0.258586	-	0.210	-	-	ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488	-	-	-,-	-,-	ICGC,
chr4	156139970	156139970	C	T	intergenic	NPY2R,MAP9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Huntington disease, age at onset, association with|Severe obesity, in men, association with|Obesity, association with|Obesity |Increased expression levels|Hypertension reduced risk,-	ICGC,
chr5	5915472	5915472	A	C	intergenic	ICE1,FLJ33360	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr7	8981010	8981010	C	G	intergenic	NXPH1,PER4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22469823	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging,-	Breast cancer, increased risk  ,-	COSMIC,ICGC,
chr3	38409704	38409704	C	A	exonic	XYLB	nonsynonymous	SNV	0.001	0.999	-	-	-	-	-	-	-	COSM4880894	-	PRAD-CA|1|308|0.00325	-	-	integument phenotype	-	COSMIC,ICGC,
chr6	114414347	114414347	C	T	intergenic	HS3ST5,FRK	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,homeostasis/metabolism phenotype	-,Potential protein deficiency	ICGC,
chrX	111538049	111538049	T	G	intronic	ZCCHC16	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	Autism spectrum disorder	ICGC,
chr13	57064615	57064615	C	T	intergenic	MIR5007,PRR20A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr8	84302802	84302802	G	A	intergenic	SNX16,LINC01419	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr20	44083645	44083645	G	A	intergenic	PIGT,WFDC2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Intellectual disability syndrome|Paroxysmal nocturnal haemoglobinuria,-	ICGC,
chr7	9660190	9660190	A	G	intergenic	NXPH1,PER4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6900188	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging,-	Breast cancer, increased risk  ,-	COSMIC,ICGC,
chrX	94023937	94023951	CTCCCAGTTAGGCTA	-	intergenic	FAM133A,LOC643486	unknown	deletion	-	-	-	-	-	-	-	-	-	COSN25254586	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	COSMIC,ICGC,
chr11	25178289	25178289	C	T	intergenic	LUZP2,ANO3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	normal phenotype,-	Anorectal malformation,Craniocervical dystonia|Dystonia, primary torsion	ICGC,
chr17	77240787	77240787	-	TCCCTTCCCTTT	intronic	RBFOX3	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	integument phenotype	Developmental delay  |Epilepsy, rolandic  	ICGC,
chr6	803631	803631	A	G	intergenic	EXOC2,LOC101927691	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5091508	-	LINC-JP|1|394|0.00254	-	-	-,-	-,-	COSMIC,ICGC,
chr9	28851204	28851204	A	T	intronic	LINGO2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	Autism spectrum disorder  |Developmental delay with absent speech	ICGC,
chrX	136536277	136536277	C	T	intergenic	GPR101,ZIC3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Situs abnormality|Heterotaxy|Congenital heart disease |Cardiac malformation	ICGC,
chr2	192661703	192661703	C	T	intergenic	NABP1,SDPR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr10	88313960	88313960	G	A	intergenic	WAPAL,OPN4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,vision/eye phenotype	-,Seasonal affective disorder, association with|Pupillary light response, association with	ICGC,
chr13	96100246	96100246	C	T	intronic	CLDN10	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1163625	-	-	-	-	behavior/neurological phenotype	-	COSMIC,
chr14	87339718	87339718	G	A	intergenic	LOC101928767,LOC283585	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr9	23649898	23649898	G	A	ncRNA_intronic	LOC101929563	unknown	SNV	-	-	-	3.23e-05	-	-	-	-	-	COSN17600026	-	ESAD-UK|1|301|0.00332	-	-	-	-	COSMIC,ICGC,
chr2	116512675	116512675	C	T	intronic	DPP10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Autism spectrum disorder	ICGC,
chr16	23699002	23699004	AGG	-	intronic	PLK1	unknown	deletion	-	-	-	-	-	-	-	-	-	COSN26989493	-	COCA-CN|1|321|0.00312	-	-	mortality/aging	Altered mRNA stability	COSMIC,ICGC,
chr15	101199433	101199433	A	G	intergenic	ASB7,ALDH1A3	unknown	SNV	-	-	-	3.232e-05	-	-	-	-	-	COSN5394241	-	LIRI-JP|1|258|0.00388	-	-	-,mortality/aging	-,Microphthalmia|Anophthalmia and microphthalmia	COSMIC,ICGC,
chr3	157349438	157349438	A	T	intergenic	C3orf55,SHOX2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Schizophrenia	ICGC,
chr2	232814219	232814219	A	G	intergenic	NPPC,DIS3L2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	mortality/aging,-	Skeletal overgrowth|Short stature|Overgrowth and bone anomalies|Blood pressure, association with,Perlman syndrome	ICGC,
chr20	54688760	54688760	G	A	intergenic	CBLN4,MC3R	unknown	SNV	-	-	-	-	rs766001591	-	-	-	-	COSN26373942	-	PRAD-UK|1|140|0.00714	-	-	normal phenotype,skeleton phenotype	-,Tuberculosis, reduced susceptibility, association with|Reduced receptor activity|Reduced expression|Reduced cell surface expression and defective ligand binding/signalling|Reduced cell surface expression|Reduced cell surface and total expression, decreased maximal binding|Reduced cell surface and total expression|Obesity, severe|Obesity, association with|Obesity 	COSMIC,ICGC,
chr3	67205006	67205006	T	G	intergenic	KBTBD8,MIR4272	unknown	SNV	-	-	-	6.526e-05	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr17	14762634	14762634	-	ACA	intergenic	HS3ST3B1,CDRT7	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr22	49576222	49576222	G	A	intergenic	LINC01310,NONE	unknown	SNV	-	-	-	0.3602	rs9616482	-	0.345647	-	0.239	-	-	LAML-KR|1|205|0.00488	-	-	-,-	-,-	ICGC,
chr2	39020076	39020076	G	A	intergenic	GEMIN6,DHX57	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr12	67290403	67290403	C	A	intergenic	GRIP1,LOC102724421	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,-	Autism|Fraser syndrome|Schizophrenia and epilepsy,-	ICGC,
chr7	55070077	55070077	A	T	intergenic	LOC100996654,EGFR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Squamous cell carcinoma of head & neck |Reduced transcription|Lymph node metastasis and high-grade tumours in breast cancer, association with|Lung cancer, susceptibility to|Lung cancer, association with |Lung cancer prognosis, association with|Lung cancer|Glioblastoma, risk, association with|Gefitinib toxicity, association with|Acute coronary syndrome, association with|Altered transmembrane signaling|Bladder cancer, association with |Breast cancer, association with|Colorectal carcinoma prognosis, association with|Dilated cardiomyopathy, association with	ICGC,
chr7	128918157	128918159	TCC	-	intronic	AHCYL2	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-	-	ICGC,
chr6	84806231	84806231	C	T	intergenic	MRAP2,CEP162	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	growth/size phenotype,-	Obesity, severe, early-onset,-	ICGC,
chr21	44222959	44222959	G	C	intergenic	PDE9A,WDR4	unknown	SNV	-	-	-	0.0701	rs35483839	-	0.0984425	-	0.043	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,Autism 	ICGC,
chr7	25867959	25867986	GAATGCCGGCAAGTATGTGGAGTAAGGG	-	intergenic	NPVF,RNU6-16P	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LINC-JP|1|394|0.00254	-	-	-,-	-,-	ICGC,
chr6	147927721	147927721	C	T	intergenic	SAMD5,SASH1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr12	41266391	41266391	-	TT	intronic	CNTN1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	mortality/aging	Myopathy, lethal congenital|Pancreatic cancer 	ICGC,
chr5	122335665	122335665	G	A	exonic	SNX24	nonsynonymous	SNV	0.015	0.99	-	-	-	-	-	-	-	COSM1696112	-	GACA-JP|1|585|0.00171	-	-	-	-	COSMIC,ICGC,
chr4	45761308	45761308	-	ATAT	intergenic	GNPDA2,GABRG1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr2	155382194	155382194	C	A	intergenic	LOC100144595,KCNJ3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	-,cardiovascular system phenotype	-,Schizophrenia, association with  	ICGC,
chr19	55411775	55411775	G	A	intergenic	FCAR,NCR1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	Systemic lupus erythematosus, association with|Preterm birth, association with.|Myocardial Infarction, association with|IgA nephropathy, association with|Granulomatosis with polyangiitis, susceptibility to, association with|Aggressive periodontitis, reduced risk, assoc with,-	ICGC,
chr2	131779777	131779777	A	G	intronic	ARHGEF4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6209092	-	LIRI-JP|1|258|0.00388	-	-	integument phenotype	Tetralogy of Fallot	COSMIC,ICGC,
chr3	80093893	80093893	C	A	intergenic	ROBO1,GBE1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,mortality/aging	Developmental dyslexia ,Potential protein deficiency|Polyglucosan body disease, relapsing-remitting form|Polyglucosan body disease, adult|Lethal multiple pterygium syndrome|Glycogen storage disease 4, non-lethal neuromuscular|Glycogen storage disease 4, neonatal|Glycogen storage disease 4|Autism spectrum disorder|Adult polyglucosan body disease	ICGC,
chr14	24040372	24040372	G	A	exonic	JPH4	nonsynonymous	SNV	0.123	0.028	-	-	-	-	-	-	-	-	LUAD|1|543|0.00184	-	-	-	mortality/aging	-	TCGA,
chr6	47125088	47125088	C	T	intergenic	GPR110,TNFRSF21	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23528521	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,hematopoietic system phenotype	-,-	COSMIC,ICGC,
chr1	4749074	4749074	A	T	intronic	AJAP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-UK|1|140|0.00714	-	-	-	-	ICGC,
chr6	67408753	67408753	G	T	intergenic	SLC25A51P1,BAI3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	-,-	ICGC,
chr4	23680748	23680748	GG	AA	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr1	196992354	196992354	A	T	intergenic	CFHR5,F13B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	Nephropathy |Membranoproliferative glomerulonephritis, association with|Macular degeneration, age related, protection against |Haemolytic uraemic syndrome, susceptibility to|Haemolytic uraemic syndrome, atypical.|Haemolytic uraemic syndrome, atypical|Glomerulopathy, C3|Glomerulonephritis C3|Factor H-related protein deficiency|Dense deposit disease, reduced risk|Chronic kidney disease after streptococcal infection,Venous thrombosis, increased risk, association with|Myocardial infarction, risk, association with|Factor XIII deficiency|Deep vein thrombosis  |Coronary artery disease, association with 	ICGC,
chr5	7941350	7941350	C	T	intergenic	MTRR,LOC729506	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	growth/size phenotype,-	Increased serum methylmalonic acid levels, association with|Methionine synthase reductase deficiency|Pancreatic cancer, increased risk, association with|Spina bifida, increased risk in offspring, association|Temporomandibular disorder, association with|Homocystinuria.|Homocystinuria, cblE type|Altered activity|Colon cancer, sporadic, reduced risk|Coronary artery disease, association with|Coronary heart disease, increased risk, association with  |Homocystinuria,-	ICGC,
chrX	124834439	124834439	T	C	intergenic	LOC100129520,LOC101928495	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr12	85364488	85364488	A	C	intergenic	SLC6A15,TSPAN19	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	reproductive system phenotype,-	Increased maximal 3H proline uptake,-	ICGC,
chr18	55133420	55133420	A	C	intronic	ONECUT2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	endocrine/exocrine gland phenotype	-	ICGC,
chrX	101219520	101219520	C	T	intergenic	ZMAT1,TCEAL2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr16	16269775	16269775	G	T	exonic	ABCC6	nonsynonymous	SNV	0.091	0.0	4.065e-06	-	rs59206042	8.294e-06	-	-	-	COSM1721130	-	-	-	-	integument phenotype	Pseudoxanthoma elasticum & Moya Moya disease |Pseudoxanthoma elasticum with angioid streaks |Pseudoxanthoma elasticum, association with|Pseudoxanthoma elasticum, autosomal dominant|Pseudoxanthoma elasticum, autosomal recessive|Pseudoxanthoma elasticum|Potential protein deficiency|May contribute to angioid streaks in PXE patients|Generalized arterial calcification of infancy|Coronary artery disease, association with|Angioid streaks, macular dysfunction and generalised retinal involvement|Angioid streaks |Abdominal aortic aneurysm 	COSMIC,
chr10	53978603	53978603	T	G	intronic	PRKG1	unknown	SNV	-	-	-	3.234e-05	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	mortality/aging	Thoracic aortic aneurysms and dissections	ICGC,
chr19	10953466	10953466	G	A	intergenic	TMED1,C19orf38	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr8	125528234	125528234	T	A	exonic	TATDN1	nonsynonymous	SNV	0.033	0.887	-	-	-	-	-	-	-	COSM5566896	-	-	-	-	-	-	COSMIC,
chr2	196143008	196143008	C	T	intergenic	LOC101927431,SLC39A10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr6	54420173	54420173	G	C	intergenic	TINAG,FAM83B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN18951293	-	-	-	-	-,-	Chronic renal failure, childhood-onset,-	COSMIC,COSMIC,
chr17	1554538	1554538	G	A	exonic	PRPF8	synonymous	SNV	-	-	2.037e-05	-	rs200164722	3.326e-05	-	-	-	-	-	GACA-JP|1|585|0.00171	-	-	vision/eye phenotype	Retinitis pigmentosa	ICGC,
chr7	98092350	98092350	C	T	intergenic	BAIAP2L1,NPTX2	unknown	SNV	-	-	-	0.1951	rs1994937	-	0.27496	-	0.188	-	-	LAML-KR|1|205|0.00488	-	-	-,vision/eye phenotype	-,-	ICGC,
chr14	79244064	79244064	C	G	intronic	NRXN3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19195063	-	CLLE-ES|1|510|0.00196	-	-	mortality/aging	Alcohol dependence, association with|Autism spectrum disorder  	COSMIC,ICGC,
chr10	85414557	85414557	G	A	intergenic	NRG3,GHITM	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Schizophrenia, association with |Increased ventrolateral PFC activation|Hirschsprung disease  ,-	ICGC,
chrX	66870271	66870271	T	G	intronic	AR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	integument phenotype	Infertility, idiopathic|Infertility, male|Premature ovarian failure |Primary amenorrhea|Prostate cancer |Prostate cancer, increased risk, association|Pseudohermaphroditism, male|Reifenstein syndrome|Spino-bulbar muscular atrophy (Kennedy disease)|Testicular dysgenesis syndrome|Urothelial carcinoma, association with|Uterine leiomyomas, association with|Very late onset of muscle weakness|Visceral adiposity and hypertension|Hypospadias.|Hypospadias, increased risk|Hypospadias|46,XY complete androgen insensitivity|Alzheimer disease, association with|Androgen insensitivity syndrome|Androgen insensitivity syndrome & Leydig cell hyperplasia|Androgen insensitivity syndrome, partial|Androgen insensitivity syndrome, partial.|Androgenetic alopecia, reduced risk, association with|Autism spectrum disorder, in females, association with|Autism spectrum disorder, protection against, in males, association with|Azoospermia, hypergonadotropic |Breast cancer, male|Defective spermatogenesis|Disorder of sex development  |Endometriosis, association with   	ICGC,
chr6	94274824	94274824	G	A	intergenic	EPHA7,TSG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	nervous system phenotype,-	Development delay and dysmorphic features|Leukemia, risk, association with ,-	ICGC,
chr2	234215899	234215899	A	-	upstream	SAG	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	vision/eye phenotype	Retinitis pigmentosa.|Retinitis pigmentosa, autosomal recessive/Leber congenital amaurosis ?|Retinitis pigmentosa, autosomal recessive.|Retinitis pigmentosa, autosomal recessive|Retinitis pigmentosa|Oguchi disease|Macular dysfunction in Oguchi disease patients	ICGC,
chr11	19014456	19014456	G	A	intergenic	MRGPRX1,MRGPRX2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr11	132062072	132062072	C	A	intronic	NTM	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	Aortic aneurysm, thoracic & intracranial|Potential protein deficiency	ICGC,
chr5	65295568	65295568	T	G	intronic	ERBB2IP	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PEME-CA|1|112|0.00893	-	-	integument phenotype	-	ICGC,
chr1	222721859	222721859	C	T	upstream	HHIPL2	unknown	SNV	-	-	-	3.231e-05	-	-	-	-	-	COSN21542875	-	BRCA-EU|1|569|0.00176	-	-	-	Potential protein deficiency	COSMIC,ICGC,
chr1	157817229	157817229	A	G	intergenic	CD5L,KIRREL	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15145469	-	BRCA-UK|1|141|0.00709	-	-	hematopoietic system phenotype,mortality/aging	-,-	COSMIC,ICGC,
chr3	185189063	185189063	C	T	intronic	MAP3K13	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22438185	-	BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr1	158318854	158318854	G	A	intergenic	CD1B,CD1E	unknown	SNV	-	-	-	0.0002	rs531391804	-	0.000399361	-	-	COSN7179563	-	PACA-AU|1|391|0.00256	-	-	-,-	-,Guillain-Barre syndrome, reduced risk, association with|Impaired lipid antigen presentation, association with	COSMIC,ICGC,
chr13	42074256	42074256	G	A	intergenic	RGCC,VWA8	unknown	SNV	-	-	-	0.0001	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,Potential protein deficiency	ICGC,
chr20	7507875	7507875	C	T	intergenic	MIR8062,HAO1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr9	15266678	15266678	A	-	intronic	TTC39B	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-	-	ICGC,
chr15	64318889	64318889	C	T	intronic	DAPK2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr1	237590570	237590570	A	C	intronic	RYR2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	mortality/aging	Long QT syndrome|Sudden cardiac death|Sudden cardiac death.|Sudden infant death syndrome|Sudden unexplained death  |Ventricular arrhythmia, in chronic heart failure, association with.|Ventricular tachycardia, polymorphic|Left ventricular noncompaction  |Left ventricular non-compaction.|Catecholaminergic polymorphic ventricular tachycardia.|Catecholaminergic polymorphic ventricular tachycardia|Cardiac arrhythmia|Arrhythmogenic right ventricular dysplasia/cardiomyopathy|Arrhythmogenic right ventricular dysplasia type 2|Arrhythmogenic right ventricular cardiomyopathy, association with|Arrhythmogenic right ventricular cardiomyopathy|Altered channel function	ICGC,
chr13	67311796	67311796	C	A	intronic	PCDH9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr8	33178402	33178402	A	C	intergenic	NRG1,FUT10	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24339831	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype,-	Sudden cardiac death, association with|Schizophrenia, association with  |Schizophrenia in African Americans, association with|Prepulse inhibition, association with|Perceptual aberration of schizotypal personality, association with|Increased lateral ventricle volume in schizophrenia|Hirschsprung disease|Developmental delay, hypotonia & microcephaly|Alzheimers disease, association with,-	COSMIC,ICGC,
chr1	226996411	226996411	G	A	intergenic	ITPKB,PSEN2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,integument phenotype	-,Parkinson disease with dementia|Lewy Body-like dementia|Lewy body dementia with parkinsonism|Frontotemporal lobar degeneration |Frontotemporal dementia |Dilated cardiomyopathy & heart failure|Dementia with Lewy bodies.|Cardiomyopathy, dilated|Behavioural abnormalities and language impairment|Alzheimer disease, increased risk, association with|Alzheimer disease, early onset|Alzheimer disease, atypical|Alzheimer disease	ICGC,
chr15	98089422	98089422	G	A	intergenic	LOC101927286,LOC101927310	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|2|100|0.02000,MELA-AU|3|183|0.01639	-	-	-,-	-,-	ICGC,
chr12	43924220	43924220	C	T	intronic	ADAMTS20	unknown	SNV	-	-	-	3.232e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	-	ICGC,
chr2	217871187	217871187	C	T	intergenic	TNP1,DIRC3	unknown	SNV	-	-	-	-	rs532324691	-	0.000199681	-	-	-	-	MELA-AU|1|183|0.00546	-	-	reproductive system phenotype,-	Oligozoospermia |Lower number of permanent teeth erupted, association with |Azoospermia ,Renal cell cancer	ICGC,
chr1	222112736	222112736	G	A	intergenic	DUSP10,HHIPL2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22492564	-	BRCA-EU|1|569|0.00176	-	-	hematopoietic system phenotype,-	-,Potential protein deficiency	COSMIC,ICGC,
chr8	110302138	110302138	T	C	exonic	NUDCD1	nonsynonymous	SNV	0.365	0.155	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr8	101059774	101059774	A	C	exonic	RGS22	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM5467284	-	COCA-CN|1|321|0.00312	-	-	-	-	COSMIC,COSMIC,ICGC,
chr2	16928212	16928212	T	G	intergenic	FAM49A,RAD51AP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr11	2545071	2545071	C	T	intronic	KCNQ1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	QT interval prolongation|Noise-induced hearing loss, susceptibility to, association|Long QT syndrome.|Long QT syndrome, modifier of|Long QT syndrome & atrial fibrillation|Long QT syndrome|Jervell and Lange-Nielsen syndrome.|Reduced triglyceride levels, association with|Romano-Ward and incomplete Jervell Lange-Nielsen syndromes|Romano-Ward syndrome|Short QT syndrome|Short QT syndrome.|Sinus bradycardia, familial atrial fibrillation and long QT syndrome.|Stressful life events associated with arrhythmic events in LQTS p|Sudden infant death syndrome|Sudden unexplained death  |Jervell and Lange-Nielsen syndrome without sensorineural deafness|Jervell and Lange-Nielsen syndrome|Altered channel function|Atrial fibrillation|Atrial fibrillation and bradycardia|Atrial fibrillation and Long QT syndrome.|Atrial fibrillation, lone, early-onset|Atrial fibrillation, lone, early-onset.|Atrial fibrillation, susceptibility to |Atrial fibrillation.|Beckwith-Wiedemann syndrome|Increased risk of unexplained sudden death in patients administered psychotropic drug therapy|Hyperinsulinaemia and symptomatic hypoglycaemia, with long QT syndrome.|Diabetes, type 2, increased risk, association  |Deafness  |Cardiomyopathy, hypertrophic.|Cardiac defects|Beckwith-Wiedemann syndrome & long QT syndrome	ICGC,
chr3	105677642	105677642	G	A	intergenic	CBLB,LINC00882	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26414009	-	PRAD-UK|1|140|0.00714	-	-	integument phenotype,-	Diabetes, type 1,-	COSMIC,ICGC,
chr9	7798603	7798603	G	T	exonic	TMEM261	nonsynonymous	SNV	0.029	0.877	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr19	42724092	42724092	G	A	intronic	DEDD2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-	-	ICGC,
chr4	2628232	2628232	G	T	UTR5	FAM193A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr12	125698231	125698231	G	T	intergenic	AACS,TMEM132B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr8	50754253	50754253	C	T	intergenic	C8orf22,SNTG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Autism|Intellectual disability, cleft palate, hearing loss and dysmorphisms	ICGC,
chr7	62654015	62654015	G	T	intergenic	NONE,ZNF733P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr1	206877216	206877216	G	C	intronic	MAPKAPK2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	mortality/aging	Lung cancer, increased risk, association with|Nasopharyngeal carcinoma, EBV associated, increased risk	ICGC,
chr13	23104228	23104228	G	C	intergenic	LINC00540,BASP1P1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17223654	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	COSMIC,ICGC,
chr2	76368089	76368089	T	G	intergenic	GCFC2,LRRTM4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	ICGC,
chr1	248637141	248637141	C	T	exonic	OR2T3	nonsynonymous	SNV	0.152	0.041	-	-	-	-	-	-	-	-	LUAD|1|543|0.00184	-	-	-	-	-	TCGA,
chr3	141454559	141454559	G	T	intergenic	RASA2,RNF7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,integument phenotype	-,-	ICGC,
chr14	43575928	43575928	G	A	intergenic	LRFN5,FSCB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Short stature|Developmental delay, seizures & learning problems ,Tourette syndrome 	ICGC,
chr8	53950470	53950470	T	C	intergenic	NPBWR1,OPRK1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	behavior/neurological phenotype,integument phenotype	Altered receptor function,Alcohol dependence, association with|Opiate addiction, association with 	ICGC,
chr1	174072123	174072123	A	G	intergenic	RC3H1,LOC102724601	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	-,-	ICGC,
chr5	157174577	157174577	C	T	intronic	LSM11	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	mortality/aging	-	ICGC,
chr1	31158214	31158214	C	G	intergenic	LOC101929406,MATN1	unknown	SNV	-	-	-	0.7360	rs6669235	-	0.753395	-	0.703	-	-	SKCA-BR|1|100|0.01000	-	-	-,skeleton phenotype	-,-	ICGC,
chr10	125176162	125176162	-	T	intergenic	BUB3,GPR26	unknown	insertion	-	-	-	3.262e-05	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	integument phenotype,behavior/neurological phenotype	Variegated aneuploidy,-	ICGC,
chrX	5992328	5992328	T	C	intronic	NLGN4X	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Potential protein deficiency|Mental retardation|Kallmann syndrome and ichthyosis|Intellectual disability, short stature & hydrocephaly|Intellectual disability, Kallmann syndrome & ichthyosis|Intellectual disability, behavioural difficulties, ichthyosis & hypogonadotrophic hypogonadism|Intellectual disability, autism spectrum disorder & short stature|Developmental delay, hypospadias & ichthyosis|Developmental delay, autism spectrum disorder, micropenis & ichthyosis|Developmental delay  |Autism, association with|Autism and mental retardation|Autism 	ICGC,
chr20	12665455	12665455	C	A	intergenic	BTBD3,LOC101929486	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	145584137	145584137	G	A	intergenic	C3orf58,PLOD2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,Bruck syndrome	ICGC,
chr7	71166098	71166098	A	C	intronic	WBSCR17	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr3	50685851	50685851	G	A	UTR3	MAPKAPK3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	-	ICGC,
chr6	79089345	79089345	A	C	intergenic	MEI4,IRAK1BP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,no phenotypic analysis	-,-	ICGC,
chr5	100020905	100020905	G	A	intergenic	FAM174A,ST8SIA4	unknown	SNV	-	-	-	6.566e-05	-	-	-	-	-	COSN7851028	-	ESAD-UK|1|301|0.00332,PACA-AU|1|391|0.00256	-	-	-,mortality/aging	-,-	COSMIC,COSMIC,ICGC,
chr8	76568222	76568222	C	T	intergenic	HNF4G,LINC01111	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	respiratory system phenotype,-	-,-	ICGC,
chr8	141115672	141115672	CC	TT	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr2	4281425	4281425	C	T	intergenic	LINC01304,LINC01249	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr2	12196276	12196276	G	T	ncRNA_intronic	LOC100506457	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-	-	ICGC,
chr16	79586585	79586585	A	G	intergenic	WWOX,MAF	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	mortality/aging,integument phenotype	Reduced plasma HDL cholesterol, association with|Non-small-cell lung cancer |Microcephaly syndrome, early lethal|Lung cancer, increased risk, association with|Differentiated thyroid carcinoma, association with|Cerebellar ataxia with epilepsy & mental retardation|Cancer |46,XY disorder of sex development ,Cerulean cataract|Cataract, ocular anterior dysgenesis and coloboma|Cataract, microcornea and/or iris coloboma|Cataract, anterior segment dysgenesis and microphthalmia|Cataract-microcornea syndrome|Cataract  	ICGC,
chr12	75837810	75837810	A	T	intergenic	GLIPR1L2,GLIPR1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	RECA-EU|1|422|0.00237	-	-	-,cellular phenotype	Schizophrenia  ,-	ICGC,
chrX	26880043	26880043	C	T	intergenic	VENTXP1,SMEK3P	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9483924	-	OV-AU|1|93|0.01075	-	-	-,-	-,-	COSMIC,ICGC,
chr3	128885902	128885902	C	T	downstream	CNBP	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging	Cardiomyopathy, dilated.|Myotonic dystrophy	ICGC,
chrY	58831087	58831087	C	A	intergenic	NONE,SPRY3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN400217	-	PBCA-DE|1|499|0.00200	-	-	-,-	-,Altered meiotic recombination hotspot usage	COSMIC,ICGC,
chr2	41458866	41458866	G	A	intergenic	SLC8A1,LOC388942	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25088087	-	MALY-DE|1|241|0.00415	-	-	mortality/aging,-	Colorectal cancer, increased risk, association with |Schizophrenia  ,-	COSMIC,ICGC,
chr4	164782398	164782398	C	T	intronic	MARCH1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	hematopoietic system phenotype	-	ICGC,
chr4	54680225	54680225	C	T	intergenic	LNX1-AS2,RPL21P44	unknown	SNV	-	-	-	0.0002	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	13492046	13492046	C	T	intergenic	LOC100506474,LINC00276	unknown	SNV	-	-	-	0.1418	rs13399016	-	0.188099	-	0.138	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr6	156704855	156704855	C	T	intergenic	NOX3,ARID1B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|2|100|0.02000	-	-	behavior/neurological phenotype,-	-,Schizophrenia|Nicolaides-Baraitser syndrome|Intellectual disability, plantar fat pads & facial dysmorphism|Intellectual disability, corpus callosum abnormalities, speech impairment & autism|Intellectual disability & speech impairment|Intellectual disability & agenesis of corpus callossum|Intellectual disability  |Developmental delay, dysmorphic features, dysgenesis of the corpus callosum, limb anomalies & genital hypoplasia|Coffin-Siris syndrome|Autism?|Autism spectrum disorder|Autism	ICGC,
chr3	139458794	139458794	G	T	intergenic	NMNAT3,CLSTN2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,Improved memory performance, association with	ICGC,
chr11	4447215	4447215	T	C	intergenic	TRIM21,OR52K2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5912110	-	LIRI-JP|1|258|0.00388	-	-	integument phenotype,-	Systemic lupus erythematosus, association with,-	COSMIC,ICGC,
chr10	96702012	96702012	G	A	exonic	CYP2C9	nonsynonymous	SNV	0.003	0.973	8.538e-05	3.231e-05	rs200183364	8.246e-05	0.000199681	7.7e-05	-	COSM1718561	-	GACA-JP|1|585|0.00171	-	-	-	Warfarin sensitivity, association with|Warfarin sensitivity |Warfarin dosage|Reduced promoter activity|Reduced activity of the renin-angiotensin-aldosterone system|Potential protein deficiency|Poor metaboliser|Impaired diclofenac metabolism|Coumarin hypersensitivity|Acenocoumarol and phenytoin toxicity	COSMIC,ICGC,
chrX	144237275	144237275	A	C	intergenic	UBE2NL,SPANXN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,-	Potential protein deficiency,-	ICGC,
chr4	5437179	5437179	T	C	intronic	STK32B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25340701	-	MALY-DE|1|241|0.00415	-	-	-	-	COSMIC,ICGC,
chr1	115073288	115073288	G	C	intergenic	TRIM33,BCAS2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8887845	-	OV-AU|1|93|0.01075	-	-	mortality/aging,-	-,-	COSMIC,ICGC,
chr5	76237552	76237552	T	C	intergenic	S100Z,CRHBP	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19532199	-	-	-	-	-,behavior/neurological phenotype	-,-	COSMIC,
chr8	33701113	33701113	G	A	intergenic	DUSP26,UNC5D	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr2	154441355	154441355	-	A	intergenic	RPRM,GALNT13	unknown	insertion	-	-	-	0.0006	rs756991895	-	-	-	-	-	-	PRAD-UK|1|140|0.00714	-	-	-,normal phenotype	-,-	ICGC,
chr1	39252208	39252208	G	A	intergenic	LINC01343,RRAGC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	20875088	20875088	G	A	intergenic	CDH18,GUSBP1	unknown	SNV	-	-	-	3.314e-05	-	-	-	-	-	COSN22581552	-	SKCA-BR|3|100|0.03000,BRCA-EU|1|569|0.00176	-	-	-,-	Anorectal malformation,-	COSMIC,ICGC,
chr15	34356319	34356319	C	T	exonic	CHRM5	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM3500511	SKCM|1|368|0.00272	SKCM-US|1|335|0.00299	-	-	behavior/neurological phenotype	-	COSMIC,TCGA,ICGC,
chr14	45779329	45779329	C	T	intergenic	MIS18BP1,LINC00871	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr3	157432779	157432779	G	C	intergenic	C3orf55,SHOX2	unknown	SNV	-	-	-	0.0951	rs56845864	-	0.114217	-	0.101	-	-	LAML-KR|1|205|0.00488	-	-	-,mortality/aging	-,Schizophrenia	ICGC,
chr4	45245259	45245259	C	T	intergenic	GNPDA2,GABRG1	unknown	SNV	-	-	-	0.0001	rs763687047	-	-	-	-	COSN25063603	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	COSMIC,ICGC,
chr3	146852918	146852918	C	G	intergenic	PLSCR5,ZIC4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN14838421	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,-	COSMIC,ICGC,
chr2	134440636	134440636	T	C	intergenic	NCKAP5,MIR3679	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7338885	-	PACA-AU|1|391|0.00256	-	-	-,-	Epilepsy  |Cervical artery dissection|Autism,-	COSMIC,ICGC,
chr4	27653702	27653702	T	G	intergenic	STIM2,MIR4275	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	integument phenotype,-	-,-	ICGC,
chr4	59719418	59719418	A	T	intergenic	IGFBP7-AS1,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23425880	-	EOPC-DE|1|202|0.00495	-	-	-,-	-,-	COSMIC,ICGC,
chr1	71578493	71578493	T	G	ncRNA_intronic	ZRANB2-AS2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	-	ICGC,
chr19	29365238	29365238	C	T	intergenic	LOC100420587,LINC00906	unknown	SNV	-	-	-	0.0002	rs536089479	-	0.000599042	-	-	-	-	LAML-KR|1|205|0.00488	-	-	-,-	-,-	ICGC,
chr9	117348510	117348510	C	T	intergenic	DFNB31,ATP6V1G1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,-	Usher syndrome 3 |Usher syndrome 2|Usher syndrome |Retinitis pigmentosa|Deafness, non-syndromic|Deafness, autosomal recessive,-	ICGC,
chr3	161236668	161236668	G	A	intergenic	OTOL1,LINC01192	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr15	61780037	61780037	T	C	intergenic	RORA,VPS13C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype,-	Obesity,Schizophrenia  	ICGC,
chr8	16810500	16810500	C	G	intergenic	MSR1,FGF20	unknown	SNV	-	-	-	0.0005	rs545417369	-	0.000798722	-	0.007	-	-	LICA-CN|1|402|0.00249	-	-	mortality/aging,hearing/vestibular/ear phenotype	Prostate cancer, association with|Prostate cancer|Chronic obstructive pulmonary disease, in smokers, association with|Barrett oesophagus/oesophageal adenocarcinoma|Atherosclerosis, increased risk, association with,Larger hippocampal volume, association with|Parkinson disease, increased risk, association with	ICGC,
chr4	5716806	5716806	G	T	intronic	EVC	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1298608	-	-	-	-	mortality/aging	Ellis-van Creveld syndrome|Ellis-van Creveld syndrome without lip/nail/dental abnormalities|Weyers acrodental dysostosis	COSMIC,
chr4	115451770	115451770	C	T	intergenic	ARSJ,UGT8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Musical ability, association with	ICGC,
chr4	111478698	111478698	C	T	intronic	ENPEP	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15055321	-	ESAD-UK|1|301|0.00332,PBCA-US|1|186|0.00538	-	-	immune system phenotype	-	COSMIC,ICGC,
chr11	35451392	35451392	C	A	intergenic	SLC1A2,PAMR1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	mortality/aging,-	Cognitive dysfunction, in schizophrenia, association with.|Progressing stroke, increased risk, association with,-	ICGC,
chr4	33239312	33239312	A	-	intergenic	NONE,NONE	unknown	deletion	-	-	-	-	-	-	-	-	-	COSN22806022	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr3	166392355	166392355	T	C	intergenic	BCHE,ZBBX	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22170179	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging,-	Serum cholinesterase deficiency|Potential protein deficiency|Obesity and triglyceride levels, association with|Hypocholinesterasaemia|Fronto-temporal dementia, association with|Cholinesterasaemia|Butyrylcholinesterase variant|Butyrylcholinesterase deficiency|Addiction to crack cocaine, association with|Acholinesterasaemia,-	COSMIC,ICGC,
chr2	92071781	92071781	C	T	intergenic	GGT8P,ACTR3BP2	unknown	SNV	-	-	-	0.0084	rs368608727	-	-	-	-	-	-	LAML-KR|1|205|0.00488	-	-	-,-	-,-	ICGC,
chr1	239652102	239652102	A	G	intergenic	LINC01139,CHRM3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,vision/eye phenotype	-,Autistic disorder|Bladder malformation|Diabetes, type 2, increased risk, association |Tetralogy of Fallot	ICGC,
chr7	47979919	47979919	-	A	intronic	PKD1L1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	mortality/aging	Subarachnoid haemorrhage, association with	ICGC,
chr7	82546419	82546419	A	G	intronic	PCLO	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging	Bipolar disorder, association with 	ICGC,
chr7	55068498	55068498	-	AAGA	intergenic	LOC100996654,EGFR	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,integument phenotype	-,Squamous cell carcinoma of head & neck |Reduced transcription|Lymph node metastasis and high-grade tumours in breast cancer, association with|Lung cancer, susceptibility to|Lung cancer, association with |Lung cancer prognosis, association with|Lung cancer|Glioblastoma, risk, association with|Gefitinib toxicity, association with|Acute coronary syndrome, association with|Altered transmembrane signaling|Bladder cancer, association with |Breast cancer, association with|Colorectal carcinoma prognosis, association with|Dilated cardiomyopathy, association with	ICGC,
chr20	39154553	39154553	G	A	intergenic	LINC01370,MAFB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Multicentric carpotarsal osteolysis|Intellectual and developmental disabilities|Cleft lip  	ICGC,
chr18	26667067	26667067	G	T	intergenic	CDH2,MIR302F	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,-	Reduced expression|Potential protein deficiency|Alzheimer disease  ,-	ICGC,
chr14	41345119	41345119	A	G	intergenic	FBXO33,LOC644919	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	80524149	80524149	G	A	intronic	CTNNA2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Schizophrenia	ICGC,
chr2	154398296	154398296	G	C	intergenic	RPRM,GALNT13	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,normal phenotype	-,-	ICGC,
chr1	54482306	54482306	G	T	intronic	LDLRAD1	unknown	SNV	-	-	-	0.4651	rs1537322	-	0.496006	-	0.457	COSN16066574	-	LAML-KR|1|205|0.00488	-	-	-	Breast or prostate cancer, increased risk	COSMIC,ICGC,
chr3	53570040	53570040	G	A	intronic	CACNA1D	unknown	SNV	-	-	-	0.1017	rs9865394	-	0.119209	-	0.138	-	-	LAML-KR|1|205|0.00488	-	-	mortality/aging	Primary aldosteronism|Potential protein deficiency|Deafness and brachycardia|Autism	ICGC,
chr18	39960276	39960276	G	A	ncRNA_intronic	LINC00907	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr7	11091450	11091450	G	T	intronic	PHF14	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	mortality/aging	-	ICGC,
chr6	28179939	28179939	G	T	intergenic	ZNF192P1,TOB2P1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr4	20104621	20104621	G	A	intergenic	NONE,SLIT2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21770971	-	BRCA-UK|1|141|0.00709,BRCA-EU|1|569|0.00176	-	-	-,mortality/aging	-,Schizophrenia  	COSMIC,ICGC,
chr5	6906723	6906723	A	C	intergenic	MIR4278,MIR4454	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr4	174712453	174712453	A	C	intergenic	HAND2-AS1,FBXO8	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9017513	-	OV-AU|1|93|0.01075	-	-	-,-	-,-	COSMIC,ICGC,
chr18	2882208	2882208	C	T	intronic	EMILIN2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-	Porokeratosis of Mibelli	ICGC,
chr2	186651019	186651019	T	A	intronic	FSIP2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20976147	-	BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr21	15475515	15475515	T	C	intergenic	ANKRD20A11P,LIPI	unknown	SNV	-	-	-	0.5926	rs1974407	-	0.625	-	0.623	-	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	-,Plasma HDL cholesterol, association with|Plasma HDL cholesterol|Hypertriglyceridaemia	ICGC,
chr9	84174697	84174697	C	A	intergenic	LOC101927477,TLE1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9524855	-	OV-AU|1|93|0.01075	-	-	-,-	-,-	COSMIC,ICGC,
chr14	59593149	59593149	A	G	intergenic	LOC102723742,DAAM1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23367167	-	MALY-DE|1|241|0.00415	-	-	-,mortality/aging	-,Congenital heart defect  	COSMIC,ICGC,
chr4	92236328	92236328	-	AA	intronic	CCSER1	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN23721034	-	-	-	-	-	-	COSMIC,COSMIC,
chr16	67662413	67662413	G	T	exonic	CTCF	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM6079513	LUAD|4|543|0.00737	-	-	-	mortality/aging	Intellectual disability  	COSMIC,TCGA,
chr1	210818837	210818837	A	C	intronic	HHAT	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26415218	-	PRAD-UK|1|140|0.00714	-	-	mortality/aging	-	COSMIC,ICGC,
chr8	69734676	69734676	T	C	intergenic	C8orf34,LOC100505718	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr5	135584045	135584045	G	A	intronic	TRPC7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	vision/eye phenotype	-	ICGC,
chr9	30783731	30783731	A	T	intergenic	LINC01242,ACO1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CN|1|65|0.01538	-	-	-,mortality/aging	-,Schizophrenia	ICGC,
chr10	69981156	69981156	C	A	intergenic	MYPN,ATOH7	unknown	SNV	-	-	-	3.229e-05	rs773280383	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	-,vision/eye phenotype	Cardiomyopathy, restrictive|Cardiomyopathy, hypertrophic|Cardiomyopathy, dilated / hypertrophic|Cardiomyopathy, dilated,Eye development defects|Nonsyndromic congenital retinal nonattachment (NCRNA) |Persistent hyperplasia of the primary vitreous	ICGC,
chr16	27895832	27895832	G	A	exonic	GSG1L	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM969335	COAD|1|367|0.00272,COADREAD|1|489|0.00204,SKCM|1|368|0.00272,UCEC|1|248|0.00403	SKCM-US|1|335|0.00299,UCEC-US|1|250|0.00400,COAD-US|1|254|0.00394	-	-	-	-	COSMIC,COSMIC,COSMIC,TCGA,ICGC,
chr7	141007002	141007002	G	A	intronic	TMEM178B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-	-	ICGC,
chr11	15470438	15470446	TCTTTCTTC	-	intergenic	INSC,LOC102724957	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	cellular phenotype,-	-,-	ICGC,
chr5	62059712	62059712	C	G	intergenic	IPO11,HTR1A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Tourette syndrome |Reduced expression|Personality disorders, association with.|Menstrual cycle-dependent fever|Major depression and suicide, association with|Major depression|Impulsive behaviour, association with|Epileptic seizures |Comorbid depression and generalized anxiety, association with|Attenuated agonist-mediated receptor down-regulation and desensitization	ICGC,
chr8	76004258	76004258	T	G	intergenic	CRISPLD1,CASC9	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25336746	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	COSMIC,ICGC,
chr19	27769927	27769927	T	A	intergenic	NONE,LINC00662	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr13	20185433	20185433	G	A	intergenic	TPTE2,MPHOSPH8	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16333241	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,Autism	COSMIC,ICGC,
chr1	66292376	66292376	-	A	intronic	PDE4B	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Psychiatric disorder |Schizophrenia	ICGC,
chr5	173063767	173063767	C	T	intergenic	BOD1,LOC101928136	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr2	198258121	198258121	T	C	intronic	SF3B1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	mortality/aging	-	ICGC,
chr7	137654601	137654601	T	C	intronic	CREB3L2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6353624	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging	-	COSMIC,ICGC,
chr21	31778831	31778831	G	A	intergenic	KRTAP13-1,KRTAP13-3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN49002	-	-	-	-	-,-	-,-	COSMIC,
chr7	23490396	23490396	G	A	intronic	IGF2BP3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20799545	-	BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr15	47218158	47218158	C	T	intergenic	SQRDL,SEMA6D	unknown	SNV	-	-	-	9.744e-05	-	-	-	-	-	COSN24761861	-	GACA-CN|1|123|0.00813	-	-	-,immune system phenotype	-,Developmental language disorder 	COSMIC,ICGC,
chr3	163306948	163306948	G	T	intergenic	LINC01192,SI	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,Sucrase isomaltase deficiency	ICGC,
chr1	171973657	171973657	-	TG	intronic	DNM3	unknown	insertion	-	-	-	3.237e-05	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging	Reduced promoter activity	ICGC,
chr7	66794514	66794514	T	C	intergenic	STAG3L4,LINC01372	unknown	SNV	-	-	-	0.2035	rs11763894	-	0.169329	-	0.268	-	-	LAML-KR|1|205|0.00488	-	-	-,-	-,-	ICGC,
chr10	34560163	34560163	G	A	intronic	PARD3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Neural tube defects	ICGC,
chr10	16448494	16448494	C	T	intergenic	FAM188A,PTER	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	Non-small-cell lung cancer, increased risk, association with,-	ICGC,
chr8	30868123	30868123	A	T	intronic	PURG	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr5	57137335	57137335	C	G	intergenic	LOC101928505,LOC101928539	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5607783	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr9	118879137	118879137	G	A	intergenic	LINC00474,PAPPA	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23774403	-	ORCA-IN|1|178|0.00562	-	-	-,skeleton phenotype	-,-	COSMIC,ICGC,
chrX	38981650	38981650	G	A	intergenic	MID1IP1,LINC01281	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr11	82921535	82921535	C	T	intronic	ANKRD42	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr3	36055719	36055719	C	T	intergenic	ARPP21,STAC	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27035775	-	ESAD-UK|1|301|0.00332	-	-	nervous system phenotype,-	-,-	COSMIC,ICGC,
chr5	8949173	8949173	G	A	intergenic	LOC101929284,SEMA5A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9196021	-	OV-AU|1|93|0.01075	-	-	-,mortality/aging	-,Double outlet right ventricle	COSMIC,ICGC,
chr21	20682635	20682635	A	G	intergenic	LOC101927797,LINC00320	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr17	15783951	15783951	C	T	intergenic	LOC101928567,ADORA2B	unknown	SNV	-	-	-	0.3053	rs11657821	-	0.273762	-	0.275	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,-	ICGC,
chr16	10880096	10880096	A	T	intronic	TVP23A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-	-	ICGC,
chr3	164725448	164725448	C	T	intronic	SI	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Sucrase isomaltase deficiency	ICGC,
chr11	49238811	49238811	T	A	intergenic	FOLH1,LOC440040	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,-	Reduced serum folate|Prostate cancer, protection against, association|Prostate cancer, association with |Increased risk of CAD & miscarriage and reduced risk of autism & cancer, association with|Increased plasma folate levels, association with|Altered plasma folate concentration, association with,-	ICGC,
chr3	110629216	110629216	A	G	intergenic	LINC01205,PVRL3-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr9	138838991	138838991	G	A	intronic	UBAC1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr6	31597870	31597870	G	C	intronic	PRRC2A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21020631	-	BRCA-EU|1|569|0.00176	-	-	-	Schizophrenia  |Non-Hodgkin lymphoma, reduced risk, association with|Malaria, severe, association with	COSMIC,ICGC,
chr3	167031255	167031255	G	C	intronic	ZBBX	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr1	160012270	160012270	C	T	exonic	KCNJ10	nonsynonymous	SNV	0.095	0.804	0.0124	0.0108	rs115466046	0.0127	0.00439297	0.0133	0.007	-	-	-	SeSAME_syndrome|not_specified	-	mortality/aging	SeSAME syndrome|Seizures, generalized  |Hyperinsulinism|Hearing loss, digenic non-syndromic|Epilepsy, ataxia, sensorineural deafness and tubulopathy|Epilepsy-related seizure, resistance to|Autism, seizures & intellectual disability	ClinVar,
chr4	106994170	106994170	G	A	intronic	TBCK	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr18	68430972	68430972	G	A	intergenic	GTSCR1,LOC100505776	unknown	SNV	-	-	-	0.0016	rs34050027	-	0.000199681	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr15	97136587	97136587	A	C	intergenic	NR2F2,SPATA8-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Whole body insulin sensitivity, association with|Hypoplastic left heart syndrome|Cardiac abnormalities|Atrioventricular septum defects,-	ICGC,
chr6	156234048	156234048	A	T	intergenic	NOX3,ARID1B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27488120	-	BTCA-SG|1|71|0.01408	-	-	behavior/neurological phenotype,-	-,Schizophrenia|Nicolaides-Baraitser syndrome|Intellectual disability, plantar fat pads & facial dysmorphism|Intellectual disability, corpus callosum abnormalities, speech impairment & autism|Intellectual disability & speech impairment|Intellectual disability & agenesis of corpus callossum|Intellectual disability  |Developmental delay, dysmorphic features, dysgenesis of the corpus callosum, limb anomalies & genital hypoplasia|Coffin-Siris syndrome|Autism?|Autism spectrum disorder|Autism	COSMIC,ICGC,
chr3	173348907	173348907	T	G	intronic	NLGN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Microcephaly, seizure disorder & intellectual disability |Autism spectrum disorder  |Autism|Anorectal malformation	ICGC,
chr7	38877858	38877858	G	A	intronic	VPS41	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	mortality/aging	-	ICGC,
chr10	10391991	10391991	C	T	intergenic	LOC101928298,LOC101928322	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr1	92536922	92536922	-	ATCTATCT	intergenic	EPHX4,SETSIP	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	-,-	-,-	ICGC,
chr13	62359984	62359984	C	G	intergenic	PCDH20,LINC00358	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN14873136	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr11	65338426	65338426	G	C	exonic	SSSCA1	nonsynonymous	SNV	0.03	1.0	-	-	-	-	-	-	-	-	BLCA|1|396|0.00253	-	-	-	-	-	TCGA,
chr5	26414071	26414071	T	G	intergenic	LOC340107,CDH9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	110047118	110047118	G	A	intronic	COL25A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Potential protein deficiency	ICGC,
chr3	167471933	167471933	T	C	intronic	SERPINI1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22307731	-	BRCA-EU|1|569|0.00176	-	-	behavior/neurological phenotype	Schizophrenia  |Myoclonus epilepsy with declining mental status|Myoclonus epilepsy|Epilepticus of slow-wave sleep|Dementia, familial	COSMIC,ICGC,
chr19	29537097	29537097	C	T	intergenic	LOC100505835,UQCRFS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN18019411	-	PACA-CA|1|268|0.00373	-	-	-,integument phenotype	-,-	COSMIC,ICGC,
chr2	141741325	141741325	A	T	intronic	LRP1B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25136824	-	MALY-DE|1|241|0.00415	-	-	mortality/aging	Schizophrenia   	COSMIC,ICGC,
chr6	25185811	25185811	C	T	intergenic	CMAHP,LOC101928663	unknown	SNV	-	-	-	-	rs183493673	-	-	-	-	-	-	LIRI-JP|2|258|0.00775	-	-	mortality/aging,-	-,-	ICGC,
chr5	11590870	11590870	C	T	intronic	CTNND2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17545471	-	ESAD-UK|1|301|0.00332	-	-	behavior/neurological phenotype	Schizophrenia  |Lennox-Gastaut syndrome |Autism spectrum disorder|Anorectal malformation|Altered localisation	COSMIC,ICGC,
chr20	18079833	18079833	G	A	intergenic	OVOL2,PET117	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	-,-	ICGC,
chr16	19148865	19148865	C	G	intergenic	ITPRIPL2,SYT17	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	ICGC,
chr18	58463884	58463884	G	C	intergenic	MC4R,CDH20	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22288089	-	BRCA-UK|1|141|0.00709,BRCA-EU|1|569|0.00176	-	-	hematopoietic system phenotype,-	Obesity, severe|Reduced activity|Reduced function   |Reduced transcriptional activity|Weight loss after gastric bypass surgery, association with|Obesity, protection against, association with|Obesity, early onset|Obesity, autosomal dominant, association with|Obesity, autosomal dominant|Obesity, association with.|Obesity|Melanocortin-4 receptor variant|Decreased body mass, association with,-	COSMIC,ICGC,
chr20	4222219	4222219	A	G	intronic	ADRA1D	unknown	SNV	-	-	-	0.2805	rs6133099	-	0.351438	-	0.275	-	-	LAML-KR|1|205|0.00488	-	-	behavior/neurological phenotype	-	ICGC,
chr11	33007940	33007944	AATAC	-	intergenic	QSER1,DEPDC7	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr18	31812655	31812655	G	A	intergenic	NOL4,DTNA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Left ventricular noncompaction with CHD	ICGC,
chr7	146396059	146396059	T	A	intronic	CNTNAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Gilles de la Tourette syndrome|Intellectual disability  |Learning disability & speech problems|Mental retardation |Mental retardation, Pitt-Hopkins-like|Multiple congenital anomalies  |Seizures, neonatal |Speech delay  |Stuttering |Epileptic encephalopathy  |Epilepsy and schizophrenia|Autism|Autism spectrum disorder |Autism spectrum disorder, modifier of|Childhood apraxia of speech|Cortical dysplasia-focal epilepsy syndrome|Developmental and/or speech and/or behavioural problems|Developmental delay  |Developmental delay & dysmorphic features|Dyslexia 	ICGC,
chr4	179583317	179583317	C	T	intergenic	LINC01098,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr4	168208757	168208757	T	G	intergenic	SPOCK3,ANXA10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	ICGC,
chr11	125550667	125550667	C	T	exonic	ACRV1	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM6194469	-	-	-	-	-	-	COSMIC,
chr1	194485145	194485145	G	C	intergenic	CDC73,KCNT2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	integument phenotype,-	Potential protein deficiency|Parathyroid carcinoma/adenoma|Parathyroid carcinoma.|Parathyroid carcinoma|Parathyroid cancer|Parathyroid adenoma.|Parathyroid adenoma |Hyperparathyroidism, primary.|Hyperparathyroidism, primary|Hyperparathyroidism, isolated|Hyperparathyroidism-jaw tumour syndrome.|Hyperparathyroidism-jaw tumour syndrome,-	ICGC,
chr11	63592304	63592304	C	T	intronic	C11orf84	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr19	20154218	20154218	C	T	intergenic	ZNF682,ZNF90	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	CMDI-UK|1|136|0.00735	-	-	-,-	-,-	ICGC,
chr8	12640748	12640748	A	G	ncRNA_intronic	LOC340357	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-	-	ICGC,
chr5	90005084	90005084	G	T	intronic	GPR98	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	mortality/aging	Usher syndrome 3|Usher syndrome 2|Usher syndrome 1|Usher syndrome|Retinitis pigmentosa|Hearing loss, progressive  |Febrile and afebrile seizures|Deafness, non-syndromic|Deafness  |Autism	ICGC,
chr5	32689518	32689518	G	A	intergenic	SUB1,NPR3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,mortality/aging	-,Diastolic dysfunction, association with|Lower ANP in obese hypertensives, association |Reduced protein expression	ICGC,
chr18	224924	224924	C	A	exonic	THOC1	nonsynonymous	SNV	0.145	0.998	-	-	-	-	-	-	-	COSM6577876	-	-	-	-	mortality/aging	-	COSMIC,
chr5	130311387	130311387	C	T	intergenic	CHSY3,HINT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,cellular phenotype	-,Axonal neuropathy with neuromyotonia	ICGC,
chr2	103850989	103850989	C	A	intergenic	TMEM182,LOC100287010	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	-,-	ICGC,
chr9	113855533	113855533	T	A	intergenic	LPAR1,MIR7702	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,-	Knee osteoarthritis, susceptibility to, association|Increased peripheral blood monocyte counts, association with,-	ICGC,
chr1	41548211	41548211	C	A	intronic	SCMH1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	skeleton phenotype	-	ICGC,
chr4	70995980	70995980	C	A	intergenic	CSN1S2AP,CSN1S2BP	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21750261	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr21	23390907	23390907	-	GT	ncRNA_intronic	LOC101927843	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|5|67|0.07463	-	-	-	-	ICGC,
chr5	158726227	158726227	G	A	intergenic	UBLCP1,IL12B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,Graves' opthalmology, susceptibility to, association with|IL-12p40 levels, association with|Increased expression|Inflammatory bowel disease, association with|Interleukin 12 deficiency|Systemic lupus erythematosus, association with|Systemic lupus erythematosus, increased risk, association with|Ulcerative colitis, association with|Glioma, association with|Gastric cancer, increased risk, association with|Asthma, allergic, association with|Atopic dermatitis and psoriasis vulgaris, susceptibility, association|Barrett's esophagus, asssociation with|Cancer, association with.|Cerebral malaria, fatal, association with|Cerebral malaria, susceptibility, association with|Cervical cancer, increased risk|Diabetes, type 1, resistance to, association with 	ICGC,
chr5	4565570	4565570	A	T	intergenic	IRX1,LOC101929153	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9952196	-	RECA-EU|1|422|0.00237	-	-	-,-	-,-	COSMIC,ICGC,
chr6	40917518	40917518	G	A	ncRNA_intronic	LOC101929555	unknown	SNV	-	-	-	0.0023	rs117472698	-	0.0133786	-	-	-	-	PRAD-CN|1|65|0.01538	-	-	-	-	ICGC,
chr8	108754085	108754085	C	T	intergenic	ANGPT1,RSPO2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	NKTL-SG|1|50|0.02000	-	-	mortality/aging,integument phenotype	Stroke, reduced risk, association with,Pancreatic cancer 	ICGC,
chr11	66965036	66965036	A	C	intronic	KDM2A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-	-	ICGC,
chr2	129382750	129382750	T	C	intergenic	HS6ST1,LOC101927881	unknown	SNV	-	-	-	-	rs769894428	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging,-	Potential protein deficiency|Kallmann syndrome|Hypogonadotropic hypogonadism, idiopathic,-	ICGC,
chr18	14205528	14205528	G	A	ncRNA_intronic	ANKRD20A5P	unknown	SNV	-	-	-	0	-	-	-	-	-	-	-	UTCA-FR|1|20|0.05000	-	-	-	-	ICGC,
chr10	111083649	111083649	C	T	intergenic	RNU6-53P,XPNPEP1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1470686	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,COSMIC,ICGC,
chr6	167754745	167754745	C	A	exonic	TTLL2	nonsynonymous	SNV	0.417	0.675	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	-	-	ICGC,
chr6	162647205	162647205	C	A	intronic	PARK2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	integument phenotype	Parkinson disease, decreased risk|Parkinson disease, early-onset|Parkinson disease, early-onset.|Parkinson disease, familial|Parkinson disease, familial, association with |Parkinson disease, idiopathic|Parkinson disease, in heterozygosity, association|Parkinson disease, late-onset|Parkinson disease, sporadic, reduced risk|Parkinson disease.|Parkinsonism, juvenile, autosomal recessive|Parkinsonism, late-onset, association with|Rolandic epilepsy |Parkinson disease, autosomal recessive|Parkinson disease, association with|Parkinson disease with resting leg tremor|Attention deficit hyperactivity disorder |Autism spectrum disorder|Cervical artery dissection|Dementia with Lewy bodies|Developmental delay  |Dystonia, dopa-responsive|Leprosy, association with|Lewy bodies|Lung adenocarcinoma   |Multiple system atrophy, cerebellar subtype|Parkinson disease|Parkinson disease with dementia.|Parkinson disease with Lewy bodies	ICGC,
chr18	3713394	3713394	G	A	intronic	DLGAP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Schizophrenia  	ICGC,
chr4	185009173	185009173	C	T	downstream	ENPP6	unknown	SNV	-	-	-	3.232e-05	-	-	-	-	-	COSN4915747	-	-	-	-	-	-	COSMIC,
chr15	97179906	97179906	C	T	intergenic	NR2F2,SPATA8-AS1	unknown	SNV	-	-	-	-	rs529362501	-	0.000199681	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Whole body insulin sensitivity, association with|Hypoplastic left heart syndrome|Cardiac abnormalities|Atrioventricular septum defects,-	ICGC,
chr9	107850320	107850320	G	A	intergenic	ABCA1,SLC44A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Increased triglyceride levels|Increased total cholesterol|Increased serum TC levels & decreased serum HDL-C and ApoAI|Increased risk of ischemic heart disease|Increased risk of coronary artery disease, association with|Increased risk of CAD, association |Increased plasma LDLc levels, association with|Increased plasma HDL cholesterol|Increased HDL-C|Ischemic heart disease, increased risk|Low HDL cholesterol levels, association with|Tangier disease.|Tangier disease|Susceptibility to radiation dermatitis|Smith-Lemli-Opitz syndrome, modifier of|Scott syndrome|Reduced total cholesterol|Reduced risk of coronary artery disease, association with|Reduced plasma HDL cholesterol|Reduced HDL cholesterol|Increased fenofibrate cholesterol efflux, association with|Improved long-term clinical outcome in coronary artery disease, association with.|Impaired insulin secretion|Coronary artery disease, protection against, association with|Autism spectrum disorder|Atrial fibrillation, protection, association with|Atherothrombotic cerebral infarction, protection, association|Atherosclerosis, association with|APOE e4 dependent alzheimer disease risk|Alzheimer's disease, association with |Altered HDL cholesterol levels|Altered HDL cholesterol|Coronary artery disease, reduced risk|Coronary heart disease, association with|Hypercholesterolaemia / hypertriglyceridaemia ?|Hypercholesterolaemia|HDL-C and TG levels, association with|HDL deficiency, dietary treatment response, association with|HDL deficiency|Coronary heart disease, protection against, association with.|Coronary heart disease, premature, association with|Coronary heart disease, increased risk, association with |Coronary heart disease, decreased risk, association with,-	ICGC,
chr3	168378008	168378008	G	A	ncRNA_intronic	EGFEM1P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr3	173008997	173008997	G	C	intergenic	SPATA16,NLGN1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21565264	-	BRCA-UK|1|141|0.00709,BRCA-EU|1|569|0.00176	-	-	-,mortality/aging	Globozoospermia,Microcephaly, seizure disorder & intellectual disability |Autism spectrum disorder  |Autism|Anorectal malformation	COSMIC,ICGC,
chr14	107064456	107064456	G	T	intergenic	LINC00221,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-UK|1|140|0.00714	-	-	-,-	-,-	ICGC,
chr18	70002025	70002025	G	C	intergenic	LOC100505776,CBLN2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17583519	-	ESAD-UK|1|301|0.00332	-	-	-,behavior/neurological phenotype	-,-	COSMIC,ICGC,
chr6	119880997	119880997	C	T	intergenic	LOC285762,TBC1D32	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Oro-facio-digital syndrome type IX	ICGC,
chr14	78980611	78980611	G	A	intronic	NRXN3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|3|183|0.01639	-	-	mortality/aging	Alcohol dependence, association with|Autism spectrum disorder  	ICGC,
chr9	82846012	82846012	C	A	intergenic	LOC101927477,TLE1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	ICGC,
chr9	17107387	17107387	T	C	intergenic	BNC2,CNTLN	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	Total anomalous pulmonary venous return |Partial anomalous pulmonary venous return |Hypospadias & partial anomalous pulmonary venous return |Hypospadias ,-	ICGC,
chr5	27466424	27466424	C	A	intergenic	CDH9,LINC01021	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	ICGC,
chr11	25491370	25491370	C	T	intergenic	LUZP2,ANO3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	normal phenotype,-	Anorectal malformation,Craniocervical dystonia|Dystonia, primary torsion	ICGC,
chr6	122715000	122715000	C	T	intergenic	GJA1,HSF2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,mortality/aging	Sudden infant death syndrome |Oculodentodigital dysplasia with primary lymphoedema|Oculodentodigital dysplasia|Neurologic dysfunction|Heart malformations|Hallerman-Streiff/ODDD syndrome|Ectodermal & oculodentodigital dysplasia with skin hyperkeratosis|Attenuated phenotype in glaucoma |Cleft lip in oculodentodigital dysplasia.|Craniometaphyseal dysplasia|Deafness|Deafness, autosomal recessive,Idiopathic azoospermia	ICGC,
chr11	77505603	77505603	A	G	intronic	RSF1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-	-	ICGC,
chr8	34416462	34416462	C	T	intergenic	DUSP26,UNC5D	unknown	SNV	-	-	-	0	rs781387062	-	-	-	-	COSN8081403	-	PACA-CA|1|268|0.00373,PACA-AU|1|391|0.00256,MALY-DE|1|241|0.00415	-	-	-,-	-,-	COSMIC,COSMIC,COSMIC,ICGC,
chr19	33792387	33792387	-	GTGGAA	exonic	CEBPA	nonframeshift	insertion	-	-	-	-	-	-	-	-	-	COSM5879633	-	-	-	-	integument phenotype	Acute myeloid leukaemia	COSMIC,
chr1	99074403	99074403	A	T	intergenic	LOC729987,SNX7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	ICGC,
chr16	89620342	89620342	C	G	exonic	SPG7	nonsynonymous	SNV	0.805	0.078	-	-	-	-	-	-	-	-	LUAD|1|543|0.00184	-	-	-	skeleton phenotype	Upper motor neuron syndrome |Spastic paraplegia, autosomal recessive|Spastic paraplegia|Progressive external ophthalmoplegia	TCGA,
chr3	5825782	5825782	T	-	intergenic	MIR4790,LOC101927347	unknown	deletion	-	-	-	-	-	-	-	-	-	COSN27999269	-	-	-	-	-,-	-,-	COSMIC,
chr13	100188169	100188169	A	C	intronic	TM9SF2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr3	60063464	60063465	AG	-	intronic	FHIT	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype	-	ICGC,
chr1	216696057	216696057	T	A	intronic	ESRRG	unknown	SNV	-	-	-	0.0086	rs538738269	-	0.00119808	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging	Breast cancer, association with 	ICGC,
chr15	36221532	36221532	C	T	intergenic	MIR4510,C15orf41	unknown	SNV	-	-	-	3.232e-05	-	-	-	-	-	COSN16099445	-	PACA-CA|1|268|0.00373	-	-	-,-	-,Congenital dysorythropoietic anaemia type 1	COSMIC,ICGC,
chr8	113409203	113409203	G	A	intronic	CSMD3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21520105	-	BRCA-EU|1|569|0.00176	-	-	-	Schizophrenia  |Colorectal cancer 	COSMIC,ICGC,
chr11	113075055	113075055	G	A	exonic	NCAM1	nonsynonymous	SNV	-	1.0	-	-	-	-	-	-	-	-	SKCM|1|368|0.00272	-	-	-	mortality/aging	Neural tube defects, risk, association with	TCGA,
chr4	8497312	8497312	G	A	intergenic	TRMT44,GPR78	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	Partial epilepsy with pericentral spikes,-	ICGC,
chr7	153948192	153948192	T	A	intronic	DPP6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	nervous system phenotype	Autism spectrum disorder  |Schizophrenia  |Ventricular fibrillation, idiopathic 	ICGC,
chr5	23980736	23980736	C	T	intergenic	PRDM9,CDH10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	reproductive system phenotype,-	Altered meiotic recombination hotspot usage|Azoospermia by meiotic arrest, association with |Azoospermia, non-obstructive ,-	ICGC,
chr6	124977256	124977256	G	A	intronic	NKAIN2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Developmental delay and recurrent infection|Various neurological abnormalities	ICGC,
chr21	19643770	19643770	A	G	intronic	TMPRSS15	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	homeostasis/metabolism phenotype	Enteropeptidase deficiency	ICGC,
chr5	6184316	6184316	T	C	intergenic	ICE1,FLJ33360	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	196671721	196671721	C	A	intronic	CFH	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN14501576	-	PACA-AU|1|391|0.00256	-	-	mortality/aging	Macular degeneration, age-related|Macular degeneration, age-related, association with|Macular degeneration, age-related, protection against|Macular degeneration, exudative age-related, association with|Membranoproliferative glomerulonephritis|Macular degeneration, age related, association with |Lung cancer, increased risk|Kidney function, association with|Inflammation, visual impairment, and cardiovascular mortality, association with|IgA nephropathy |Hypertension and blood pressure, association with.|Hemolysis, elevated liver enzymes & low platelet count|Membranoproliferative glomerulonephritis, association|Membranoproliferative glomerulonephritis, association with|Meningococcal disease, lower risk, association with|Thrombotic microangiopathy, ticlopidine-associated|Thrombotic microangiopathy following transplantation|Thrombotic microangiopathy following kidney transplantation|Stargardt disease |Reduced retinal sensitivity in macular region, in early age-related macular degeneration patients, association with.|Polypoidal choroidal vasculopathy, association with.|Polypoidal choroidal vasculopathy, association with|Polypoidal choroidal vasculopathy, and neovascular age-related macular degeneration, association with.|Polypoidal choroidal vasculopathy|No association with atypical hemolytic uraemic syndrome|Mortality, increased risk in nonagenarians, association with|Thrombotic thrombocytopaenic purpura, renal involvement|Haemolytic uraemic syndrome, Streptococcus pneumoniae-associated|Haemolytic uraemic syndrome, reduced susceptibility|Dense deposit disease, increased risk|Dense deposit disease, association with|Dense deposit disease |Coronary artery disease, early-onset, association with|C3 glomerulonephritis.|C3 glomerulonephritis|Bilateral soft drusen, in age-related maculopathy, association|AMD, tAMD, PCV and RAP, association with|AMD, tAMD, and PCV, association with|AMD in Asians, association with|Alzheimer disease, association with|Age-related macular degeneration, exudative, association with|Dense deposit disease.|Drusen, basal laminar|Haemolytic uraemic syndrome, atypical.|Haemolytic uraemic syndrome, atypical|Haemolytic uraemic syndrome, association with |Haemolytic uraemic syndrome with skin lesions|Haemolytic uraemic syndrome|Glomerulonephritis, crescentic and necrotizing|Glomerulonephritis with isolated C3 deposits / Membranoproliferative glomerulonephritis|Event-free survival, in follicular lymphoma, association with.|Factor H deficiency|Focal and secondary glomerulosclerosis|Glomerulonephritis |Glomerulonephritis with isolated C3 deposits	COSMIC,ICGC,
chr5	139832501	139832501	C	T	intronic	ANKHD1,ANKHD1-EIF4EBP3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	190925821	190925821	A	G	intergenic	FRG1,FRG2	unknown	SNV	-	-	-	0.1842	rs112196065	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-,-	Ovarian cancer ,-	ICGC,
chr4	119661977	119661977	A	-	intronic	SEC24D	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	GACA-JP|1|585|0.00171	-	-	-	-	ICGC,
chr13	37168344	37168344	C	T	intergenic	CCNA1,SERTM1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	-,-	ICGC,
chr18	8461876	8461876	G	A	intergenic	PTPRM,RAB12	unknown	SNV	-	-	-	0.2477	rs601431	-	0.224042	-	0.196	-	-	ESAD-UK|1|301|0.00332	-	-	cardiovascular system phenotype,-	Potential protein deficiency,-	ICGC,
chr7	145180903	145180903	T	C	intergenic	TPK1,CNTNAP2	unknown	SNV	-	-	-	0.2225	rs57048686	-	0.247005	-	0.225	-	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	Thiamine pyrophosphokinase deficiency|Leigh-like disease|Colorectal cancer, increased risk, association with |Autism,Gilles de la Tourette syndrome|Intellectual disability  |Learning disability & speech problems|Mental retardation |Mental retardation, Pitt-Hopkins-like|Multiple congenital anomalies  |Seizures, neonatal |Speech delay  |Stuttering |Epileptic encephalopathy  |Epilepsy and schizophrenia|Autism|Autism spectrum disorder |Autism spectrum disorder, modifier of|Childhood apraxia of speech|Cortical dysplasia-focal epilepsy syndrome|Developmental and/or speech and/or behavioural problems|Developmental delay  |Developmental delay & dysmorphic features|Dyslexia 	ICGC,
chr9	92267692	92267692	T	C	ncRNA_intronic	UNQ6494	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr11	39973764	39973764	G	T	intergenic	LOC101928536,LRRC4C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	ICGC,
chr2	176205087	176205087	T	C	intergenic	ATP5G3,KIAA1715	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27658780	-	NKTL-SG|1|50|0.02000	-	-	-,mortality/aging	-,-	COSMIC,ICGC,
chr19	3134710	3134710	G	A	intergenic	GNA11,GNA15	unknown	SNV	-	-	-	0.0003	rs368766086	-	0.000199681	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	integument phenotype,normal phenotype	Tetralogy of Fallot|Hypoparathyroidism  |Hypocalcaemia|Hypercalcaemia, hypocalciuric type 2,-	ICGC,
chr1	21632376	21632376	C	T	intronic	ECE1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Alzheimer disease, reduced risk, association with |Ambulatory blood pressure, association with|Hirschsprung disease	ICGC,
chr2	60132129	60132129	-	T	intergenic	LOC101927285,MIR4432	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	-,-	-,-	ICGC,
chr6	115251747	115251747	A	T	intergenic	HS3ST5,FRK	unknown	SNV	-	-	-	0.0028	rs180839726	-	0.000199681	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,homeostasis/metabolism phenotype	-,Potential protein deficiency	ICGC,
chr22	50659211	50659211	C	G	exonic	TUBGCP6	nonsynonymous	SNV	0.01	0.93	-	-	-	-	-	-	-	COSM3842925	BRCA|1|982|0.00102	BRCA-US|1|955|0.00105	-	-	-	Microcephaly with chorioretinopathy 	COSMIC,TCGA,ICGC,
chr3	160679560	160679560	G	T	exonic	PPM1L	nonsynonymous	SNV	0.801	0.001	-	-	-	-	-	-	-	COSM5795912	-	BRCA-EU|1|569|0.00176	-	-	cardiovascular system phenotype	-	COSMIC,ICGC,
chr4	92269117	92269117	C	T	intronic	CCSER1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|2|100|0.02000,MELA-AU|2|183|0.01093	-	-	-	-	ICGC,
chr8	79421864	79421864	C	T	intergenic	PEX2,PKIA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,normal phenotype	Zellweger syndrome|Refsum disease, infantile|Peroxisome biogenesis disorder|Cerebellar ataxia, autosomal recessive,-	ICGC,
chr6	101951318	101951318	C	T	intronic	GRIK2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	behavior/neurological phenotype	Mental retardation, non-syndromic, autosomal recessive	ICGC,
chr16	65558894	65558894	C	T	ncRNA_intronic	LINC00922	unknown	SNV	-	-	-	3.231e-05	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr8	128388369	128388369	C	T	ncRNA_intronic	CASC21,CASC8	unknown	SNV	-	-	-	0.0035	rs182355732	-	0.00119808	-	0.007	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr10	45202378	45202378	G	A	intergenic	CXCL12,TMEM72-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Increased susceptibility to HIV type 1 infection|HIV-1 disease progression, association with|Disease progression in HIV, association with.|Delayed onset of AIDS, association with|Coronary artery disease, susceptibility to|Chronic myeloproliferative disease, association with,-	ICGC,
chr2	104580011	104580011	T	C	intergenic	TMEM182,LOC100287010	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23343511	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	COSMIC,ICGC,
chr3	65964296	65964296	C	T	intronic	MAGI1	unknown	SNV	-	-	-	0.0175	rs112761181	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	Schizophrenia  |Bipolar affective disorder  	ICGC,
chr11	77411864	77411864	C	T	exonic	RSF1	nonsynonymous	SNV	0.089	0.013	-	-	rs372817127	-	-	7.7e-05	-	COSM4036884	STAD|1|395|0.00253,STES|1|395|0.00253	STAD-US|1|289|0.00346	-	-	-	-	COSMIC,TCGA,ICGC,
chr6	117112381	117112381	C	T	downstream	GPRC6A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Potential protein deficiency|Prostate cancer, reduced risk, association with	ICGC,
chr6	65567251	65567251	A	G	intronic	EYS	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Cone-rod dystrophy, autosomal recessive.|Leber congenital amaurosis|Retinitis pigmentosa|Retinitis pigmentosa, autosomal recessive |Retinitis pigmentosa, autosomal recessive/Leber congenital amaurosis	ICGC,
chr3	6060599	6060599	-	A	intergenic	MIR4790,LOC101927347	unknown	insertion	-	-	-	0.1141	rs397820228	-	-	-	-	COSN1279509	-	LINC-JP|2|394|0.00508	-	-	-,-	-,-	COSMIC,COSMIC,ICGC,
chr8	93287658	93287658	C	T	intergenic	RUNX1T1,FLJ46284	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26124829	-	PRAD-UK|1|140|0.00714	-	-	integument phenotype,-	Intellectual disability  ,-	COSMIC,ICGC,
chr16	51188677	51188677	G	T	intergenic	SALL1,LOC101927364	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22043939	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging,-	Townes-Brocks syndrome|Renal hypodysplasia|Multiple congenital anomalies, CNS defects, cortical blindness, and absence of psychomotor development|Lenz microphthalmia syndrome|Goldenhar syndrome ,-	COSMIC,ICGC,
chr10	31723017	31723017	A	G	intronic	ZEB1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17831847	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype	Schizophrenia|Posterior polymorphous corneal dystrophy|Keratoconus & Fuchs endothelial corneal dystrophy|Keratoconus |Corneal dystrophy, Fuchs late-onset	COSMIC,ICGC,
chr12	55846082	55846082	C	T	exonic	OR6C2	synonymous	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr15	97402934	97402934	G	A	intergenic	SPATA8,LOC101927286	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Potential protein deficiency,-	ICGC,
chr9	72602285	72602285	C	T	intergenic	C9orf135,MAMDC2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr12	41451869	41451869	G	C	intronic	CNTN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging	Myopathy, lethal congenital|Pancreatic cancer 	ICGC,
chr2	222518790	222518790	G	A	intergenic	EPHA4,PAX3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|4|183|0.02186	-	-	reproductive system phenotype,integument phenotype	Amyotrophic lateral sclerosis, reduced disease severity,Waardenburg syndrome type I|Waardenburg syndrome III|Waardenburg syndrome I.|Waardenburg syndrome I|Waardenburg syndrome|Spina bifida  |Reduced transcription|Hearing loss, syndromic|Craniofacial-deafness-hand syndrome	ICGC,
chr5	44862178	44862178	C	T	intergenic	MRPS30,HCN1	unknown	SNV	-	-	-	0.0028	rs577324191	-	0.000599042	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	-,Idiopathic epilepsy, generalised 	ICGC,
chr15	93683031	93683031	A	-	intergenic	RGMA,LOC101927153	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	mortality/aging,-	Autism,-	ICGC,
chr12	6691438	6691438	G	A	exonic	CHD4	synonymous	SNV	-	-	9.412e-05	3.23e-05	rs370369438	8.554e-05	-	7.7e-05	-	-	SKCM|1|368|0.00272	-	-	-	hematopoietic system phenotype	-	TCGA,
chr2	212843211	212843211	G	A	intronic	ERBB4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17696875	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype	Schizophrenia |Oligohydramnios|Intellectual disability, hyperactivity & speech developmental delay|Increased promoter activity|Hepatocellular carcinoma, increased risk, association with|Epileptic encephalopathy, early infantile 3|Breast and colorectal cancer, association with|Bipolar disorder, association with |Bipolar disorder |Autism spectrum disorder  |Amyotrophic lateral sclerosis type 19	COSMIC,ICGC,
chr15	29394038	29394038	G	A	intronic	APBA2	unknown	SNV	-	-	0	-	-	-	-	-	-	-	-	GACA-JP|1|585|0.00171	-	-	mortality/aging	Autism |Schizophrenia	ICGC,
chr6	9296596	9296596	T	C	intergenic	LOC100506207,TFAP2A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17128404	-	-	-	-	-,integument phenotype	-,Schizophrenia, episodic, association |Orofacial clefting |Developmental delay/intellectual disability and nasolacrimal duct obstruction|Cisplatin resistance|Branchio-oculo-facial syndrome with thyroglossal duct cyst|Branchio-oculo-facial syndrome	COSMIC,
chr5	35932327	35932327	G	T	intronic	CAPSL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	no phenotypic analysis	-	ICGC,
chr17	48912553	48912553	G	A	upstream	WFIKKN2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9670231	-	RECA-EU|1|422|0.00237	-	-	-	-	COSMIC,ICGC,
chr4	20244414	20244414	-	CT	intergenic	NONE,SLIT2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,Schizophrenia  	ICGC,
chr15	27771114	27771114	-	ATAAT	intronic	GABRG3	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	Potential protein deficiency	ICGC,
chr13	54578399	54578399	C	T	intergenic	LINC00558,LINC00458	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	210277628	210277628	G	A	intronic	SYT14	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-	Cerebral atrophy, macrocephaly seizures & developmental delay|Spinocerebellar ataxia with psychomotor retardation	ICGC,
chr7	33100904	33100904	A	G	intronic	NT5C3A	unknown	SNV	-	-	-	0.0328	rs76443901	-	0.0161741	-	0.007	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr20	9173089	9173089	T	C	intronic	PLCB4	unknown	SNV	-	-	-	0.0029	rs73093810	-	0.00698882	-	0.007	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Auriculocondylar syndrome	ICGC,
chr14	44343967	44343967	A	G	intergenic	LRFN5,FSCB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Short stature|Developmental delay, seizures & learning problems ,Tourette syndrome 	ICGC,
chr7	57191523	57191523	G	A	intronic	ZNF479	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr2	143573586	143573586	A	G	intergenic	LRP1B,KYNU	unknown	SNV	-	-	-	0.3216	rs12691659	-	0.3752	-	0.232	-	-	ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488	-	-	mortality/aging,-	Schizophrenia   ,Xanthurenic aciduria|Schizophrenia  |Essential hypertension, association with	ICGC,
chr1	195142288	195142288	A	G	intergenic	CDC73,KCNT2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25207700	-	MALY-DE|1|241|0.00415	-	-	integument phenotype,-	Potential protein deficiency|Parathyroid carcinoma/adenoma|Parathyroid carcinoma.|Parathyroid carcinoma|Parathyroid cancer|Parathyroid adenoma.|Parathyroid adenoma |Hyperparathyroidism, primary.|Hyperparathyroidism, primary|Hyperparathyroidism, isolated|Hyperparathyroidism-jaw tumour syndrome.|Hyperparathyroidism-jaw tumour syndrome,-	COSMIC,ICGC,
chr9	71199519	71199519	C	G	intergenic	LOC101927015,PIP5K1B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,hematopoietic system phenotype	-,-	ICGC,
chr14	42151029	42151029	-	ATTTATTTATTTATTTT	intronic	LRFN5	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	Short stature|Developmental delay, seizures & learning problems 	ICGC,
chr21	27677764	27677764	C	T	intergenic	APP,CYYR1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Dementia and cerebral microvasculopathy.|Dementia, early-onset |Myoclonic epilepsy   |Potential protein deficiency|Reduced expression|Schizophrenia|Cerebral haemorrhage|Cerebral amyloid angiopathy|Alzheimer disease|Alzheimer disease with cerebral amyloid angiopathy|Alzheimer disease, association with|Alzheimer disease, early onset|Alzheimer disease, protection against |Amyloidosis in cerebral hemorrhage patients,-	ICGC,
chr1	163654458	163654458	A	G	intergenic	LOC100422212,PBX1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1410155	-	LIRI-JP|1|258|0.00388	-	-	-,integument phenotype	-,Schizophrenia	COSMIC,COSMIC,ICGC,
chr11	64752165	64752165	A	C	intergenic	C11orf85,BATF2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8687799	-	OV-AU|1|93|0.01075	-	-	-,mortality/aging	-,-	COSMIC,ICGC,
chr6	163021420	163021420	G	A	intronic	PARK2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	integument phenotype	Parkinson disease, decreased risk|Parkinson disease, early-onset|Parkinson disease, early-onset.|Parkinson disease, familial|Parkinson disease, familial, association with |Parkinson disease, idiopathic|Parkinson disease, in heterozygosity, association|Parkinson disease, late-onset|Parkinson disease, sporadic, reduced risk|Parkinson disease.|Parkinsonism, juvenile, autosomal recessive|Parkinsonism, late-onset, association with|Rolandic epilepsy |Parkinson disease, autosomal recessive|Parkinson disease, association with|Parkinson disease with resting leg tremor|Attention deficit hyperactivity disorder |Autism spectrum disorder|Cervical artery dissection|Dementia with Lewy bodies|Developmental delay  |Dystonia, dopa-responsive|Leprosy, association with|Lewy bodies|Lung adenocarcinoma   |Multiple system atrophy, cerebellar subtype|Parkinson disease|Parkinson disease with dementia.|Parkinson disease with Lewy bodies	ICGC,
chr4	174691795	174691795	C	T	intergenic	HAND2-AS1,FBXO8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr10	127370787	127370787	G	T	intronic	TEX36	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-	-	ICGC,
chr7	22632538	22632538	-	CCACCAGGTTCAAA	intergenic	LOC100506178,LOC401312	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|3|67|0.04478	-	-	-,-	-,-	ICGC,
chr8	73658398	73658398	T	C	ncRNA_intronic	LOC101926908	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21407411	-	BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr11	38220257	38220257	A	G	intergenic	C11orf74,LOC103312105	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr7	90455920	90455920	G	C	intronic	CDK14	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5229397	-	ESAD-UK|1|301|0.00332	-	-	-	Potential protein deficiency	COSMIC,ICGC,
chr21	10937790	10937790	C	T	intronic	TPTE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Potential protein deficiency	ICGC,
chr3	90109356	90109356	G	A	intergenic	EPHA3,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Oligozoospermia|Schizophrenia    |Sertoli-cell-only syndrome,-	ICGC,
chr3	191950383	191950383	T	C	intronic	FGF12	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	-	ICGC,
chr9	68773960	68773960	G	T	intergenic	LOC100132352,PGM5P2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20087565	-	-	-	-	-,-	-,-	COSMIC,
chr11	123471189	123471189	C	T	exonic	GRAMD1B	nonsynonymous	SNV	0.001	1.0	-	-	-	-	-	-	-	COSM1146599	HNSC|1|512|0.00195,LUSC|1|178|0.00562	LUSC-US|1|194|0.00515,READ-US|1|94|0.01064	-	-	no phenotypic analysis	-	COSMIC,COSMIC,TCGA,ICGC,
chr2	148693810	148693810	T	C	intronic	ORC4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	behavior/neurological phenotype	Immunodeficiency, common variable  |Lymphoproliferative disorder|Meier-Gorlin syndrome	ICGC,
chr1	87120292	87120292	C	A	ncRNA_exonic	CLCA3P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr16	77803995	77803995	C	T	intergenic	NUDT7,VAT1L	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,other phenotype	Autism spectrum disorder|Colorectal cancer ,-	ICGC,
chr6	17420064	17420064	G	A	intronic	CAP2	unknown	SNV	-	-	-	6.504e-05	-	-	-	-	-	COSN7788498	-	PACA-CA|1|268|0.00373	-	-	-	-	COSMIC,ICGC,
chr7	9444978	9444978	A	C	intergenic	NXPH1,PER4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	mortality/aging,-	Breast cancer, increased risk  ,-	ICGC,
chr2	156806014	156806014	A	-	intergenic	KCNJ3,AC093375.1	unknown	deletion	-	-	-	0.0002	-	-	-	-	-	-	-	CLLE-ES|1|510|0.00196,OV-AU|1|93|0.01075	-	-	cardiovascular system phenotype,-	Schizophrenia, association with  ,-	ICGC,
chr9	75452306	75452306	A	G	intergenic	TMC1,LOC101927258	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	integument phenotype,-	Nonsyndromic deafness, autosomal recessive|Hearing loss.|Hearing loss, nonsyndromic, autosomal recessive|Hearing loss|DFNB7/B11 deafness|DFNA36 hearing loss, association with|Deafness, non-syndromic, autosomal recessive|Deafness, non-syndromic, autosomal dominant|Deafness, non-syndromic |Deafness,-	ICGC,
chr6	82218538	82218538	A	-	intergenic	BCKDHB,FAM46A	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332,GACA-CN|1|123|0.00813	-	-	-,-	Maple syrup urine disease,Tuberculosis, susceptibility to 	ICGC,
chr5	153553273	153553273	-	CAGAGAG	intergenic	MFAP3,GALNT10	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,normal phenotype	-,-	ICGC,
chr14	26685938	26685938	A	C	intergenic	STXBP6,NOVA1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,-	ICGC,
chr22	29836669	29836669	C	T	ncRNA_exonic	RFPL1S	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr2	239605727	239605727	G	A	intergenic	LINC01107,TWIST2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Setleis syndrome	ICGC,
chr10	117328138	117328138	G	T	intronic	ATRNL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype	Cognitive impairment, autism & dysmorphic features 	ICGC,
chr17	1223742	1223742	T	C	intergenic	TUSC5,YWHAE	unknown	SNV	-	-	-	0.0035	-	-	-	-	-	COSN25729231	-	EOPC-DE|3|202|0.01485,LAML-KR|1|205|0.00488,NKTL-SG|1|50|0.02000	-	-	-,mortality/aging	-,Left ventricular noncompaction & hypoplasia of the corpus callosum|Intellectual disability  |Developmental, behavioural and brain abnormalities|Developmental delay, facial dysmorphology and overgrowth|Developmental delay, facial dysmorphology and growth retardation|Developmental delay, autism and mental retardation|Developmental delay and mild brain structural anomalies|Developmental delay and facial dysmorphology|Developmental delay & pre/post-natal growth retardation|Cognitive impairment, facial dysmorphisms & growth restriction|Cognitive impairment & facial dysmorphisms|Bilateral cleft lip & palate|Autism spectrum disorder  |Aortic stenosis, microcephaly & dysmorphic facial features|Rolandic epilepsy 	COSMIC,COSMIC,COSMIC,ICGC,
chr14	79286983	79286983	C	T	intronic	NRXN3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging	Alcohol dependence, association with|Autism spectrum disorder  	ICGC,
chr9	45051414	45051414	C	T	intergenic	LOC102723709,FAM27A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26483076	-	LICA-CN|1|402|0.00249	-	-	-,-	-,-	COSMIC,ICGC,
chr7	67279807	67279807	G	A	intergenic	LINC01372,LOC102723427	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr8	112861568	112861568	-	A	intergenic	KCNV1,CSMD3	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN14722379	-	-	-	-	behavior/neurological phenotype,-	-,Schizophrenia  |Colorectal cancer 	COSMIC,
chr2	140162646	140162646	G	A	intergenic	YY1P2,LRP1B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,mortality/aging	-,Schizophrenia   	ICGC,
chr19	8797950	8797950	C	T	intergenic	ADAMTS10,ACTL9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	Schizophrenia|Weill-Marchesani syndrome,-	ICGC,
chr4	10851971	10851971	G	T	intergenic	CLNK,MIR572	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1978848	-	LIRI-JP|1|258|0.00388	-	-	hematopoietic system phenotype,-	Immunodeficiency, common variable, association with,-	COSMIC,ICGC,
chrX	123874583	123874583	T	G	intronic	TENM1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	Schizophrenia  	ICGC,
chr8	530011	530011	G	A	intergenic	TDRP,ERICH1	unknown	SNV	-	-	-	3.228e-05	rs551453388	-	0.000399361	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-,-	-,-	ICGC,
chr9	2402292	2402292	A	C	intergenic	SMARCA2,VLDLR-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,-	Short stature|Schizophrenia, association with   |Nicholaides-Baraitser syndrome|Multiple congenital anomalies  |Lung cancer, association with|Intellectual disabilty, short stature and dysmorphisms|Hepatocellular carcinoma, in smokers, association with.|Hepatocellular carcinoma, association with.|Developmental delay & dysmorphic features|Developmental delay & autistic features|Developmental delay  |Coffin-Siris syndrome,-	ICGC,
chr2	117988158	117988158	G	T	intergenic	DPP10,DDX18	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19513213	-	-	-	-	-,-	Autism spectrum disorder,-	COSMIC,
chr5	112765071	112765071	C	T	intronic	MCC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	normal phenotype	-	ICGC,
chr4	141230797	141230797	C	T	ncRNA_intronic	SCOC-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr20	32775954	32775954	G	A	intergenic	EIF2S2,ASIP	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	mortality/aging,integument phenotype	-,Basal cell carcinoma, association with.|Dark hair and brown eyes, association with|MRNA levels, association with	ICGC,
chr1	11104533	11104533	C	T	intronic	MASP2	unknown	SNV	-	-	-	3.238e-05	-	-	-	-	-	COSN16251373	-	PRAD-CA|1|308|0.00325	-	-	immune system phenotype	Reduced MASP2 levels|Reduced enzyme activity, association with|Placental malaria, resistance to, association with|MASP2 deficiency|HCV infection, susceptibility to|Haemolytic uraemic syndrome, atypical	COSMIC,ICGC,
chr17	74174906	74174906	-	T	intronic	RNF157	unknown	insertion	-	-	-	0.0010	rs373983161	-	-	-	0.007	COSN27307709	-	PBCA-DE|1|499|0.00200	-	-	-	-	COSMIC,ICGC,
chr4	135898238	135898238	A	T	intergenic	PABPC4L,LINC00613	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-UK|1|140|0.00714	-	-	-,-	Autism spectrum disorder  ,-	ICGC,
chr2	108193340	108193340	G	A	intergenic	ST6GAL2,RGPD4-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	112482445	112482445	C	T	intergenic	MIR4435-1HG,ANAPC1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16671984	-	PACA-CA|1|268|0.00373	-	-	-,-	-,Potential protein deficiency	COSMIC,COSMIC,ICGC,
chr5	33676812	33676812	-	CACAGA	intronic	ADAMTS12	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	cardiovascular system phenotype	-	ICGC,
chr3	128746295	128746296	CT	-	intronic	EFCC1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-	-	ICGC,
chr10	95072853	95072853	G	T	exonic	MYOF	nonsynonymous	SNV	0.075	0.354	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	cardiovascular system phenotype	Schizophrenia|Autism	ICGC,
chr15	64022890	64022890	T	A	intronic	HERC1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	-	ICGC,
chr12	42183311	42183311	A	T	intergenic	PDZRN4,GXYLT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BOCA-FR|1|98|0.01020	-	-	-,-	-,-	ICGC,
chr20	3639501	3639501	G	T	downstream	GFRA4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	skeleton phenotype	-	ICGC,
chr2	1562598	1562598	G	A	intergenic	TPO,PXDN	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,-	Total iodide organification defect|Thyroid peroxidase deficiency|Thyroid dyshormonogenesis|Partial iodide organification defect|Intellectual disability  |Hypothyroidism.|Hypothyroidism, association with |Hypothyroidism|Goitrous hypothyroidism.|Goitrous hypothyroidism|Goitre|Foetal hyperthyroidism,Cataract-microcornea with corneal opacity	ICGC,
chr13	67907198	67907198	C	T	intergenic	PCDH9,LINC00550	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr7	72761528	72761528	A	C	intronic	FKBP6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	reproductive system phenotype	Infertility, protection against, association with|Hypoplastic left heart syndrome|Ebstein anomaly|Deficiency in Williams-Beuren syndrome|Azoospermia, non-obstructive|Azoospermia 	ICGC,
chr12	12081549	12081549	C	T	intergenic	RNU6-19P,BCL2L14	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24900760	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	COSMIC,ICGC,
chr19	54245767	54245767	C	T	ncRNA_exonic	MIR520H	unknown	SNV	-	-	-	-	rs373982677	-	-	9.7e-05	-	COSN5028209	SKCM|1|368|0.00272	SKCM-US|1|335|0.00299	-	-	-	-	COSMIC,TCGA,ICGC,
chr2	221067813	221067813	A	T	intergenic	MIR4268,EPHA4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,reproductive system phenotype	-,Amyotrophic lateral sclerosis, reduced disease severity	ICGC,
chr1	7233036	7233036	C	T	intronic	CAMTA1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	Ataxia, non-progressive congenital|Developmental delay & learning disability|Impaired episodic memory performance, association with	ICGC,
chr4	78662522	78662522	G	A	intronic	CNOT6L	unknown	SNV	-	-	-	3.233e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr10	90200840	90200840	G	A	intronic	RNLS	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	cardiovascular system phenotype	Paediatric cataract |Essential hypertension in Han Chinese, association with|Cardiac hypertrophy, dysfunction & ischemia, association with	ICGC,
chr17	39640397	39640397	G	A	intergenic	KRT35,KRT36	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26309390	-	PRAD-UK|1|140|0.00714	-	-	-,-	-,-	COSMIC,ICGC,
chr12	108363965	108363965	A	G	intergenic	LOC728739,WSCD2	unknown	SNV	-	-	-	0.0004	rs28564068	-	-	-	-	COSN18829750	-	-	-	-	-,-	-,-	COSMIC,
chr3	53162891	53162891	G	A	intronic	RFT1	unknown	SNV	-	-	-	3.229e-05	rs758256010	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Congenital disorder of glycosylation  |N-linked glycosylation disorder	ICGC,
chr22	26283506	26283506	G	A	intronic	MYO18B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Colorectal cancer, increased risk, association with|Leukemia, risk, association with |Schizophrenia	ICGC,
chr11	90762875	90762875	C	T	intergenic	DISC1FP1,FAT3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,vision/eye phenotype	-,Autism spectrum disorder	ICGC,
chr13	54279157	54279157	A	G	intergenic	OLFM4,LINC00558	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	hematopoietic system phenotype,-	Potential protein deficiency,-	ICGC,
chr4	9929538	9929538	G	C	intronic	SLC2A9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	mortality/aging	Gout, association with|Renal hypouricaemia|Renal hypouricaemia with exercise-induced acute renal failure	ICGC,
chr15	86727083	86727083	A	G	intronic	AGBL1	unknown	SNV	-	-	-	3.229e-05	-	-	-	-	-	COSN8480505	-	OV-AU|1|93|0.01075	-	-	-	Fuchs corneal dystrophy, late-onset 	COSMIC,ICGC,
chr22	32766268	32766268	C	A	ncRNA_intronic	RFPL3S	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr5	84520194	84520194	G	T	intergenic	EDIL3,NBPF22P	unknown	SNV	-	-	-	6.466e-05	rs767325958	-	-	-	-	COSN7777967	-	PACA-CA|1|268|0.00373	-	-	immune system phenotype,-	Schizophrenia  ,-	COSMIC,ICGC,
chr2	86945366	86945366	G	A	intronic	RNF103-CHMP3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr18	77581570	77581570	G	A	intergenic	CTDP1,KCNG2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-,-	Cataracts, facial dysmorphism, neuropathy,-	ICGC,
chr10	131079203	131079203	C	T	intergenic	LINC01163,MGMT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,MGMT methylation in malignant pleural mesothelioma, association with|Non-Hodgkin lymphoma, increased risk|Pancreatic cancer, increased risk, association with|Promoter methylation and longer survival in glioblastoma patients, association with|Promoter methylation in colorectal cancer |MGMT methylation in lung cancer, increased risk, association with|MGMT methylation in colorectal cancer, association with|Lung cancer, risk, association with|Glioblastoma, reduced risk, association with |Endometrial cancer risk, association with|Cervical carcinoma, increased risk, association with|Cancer, increased risk|Altered enzyme activity	ICGC,
chr2	70530100	70530100	A	C	upstream	FAM136A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7081732	-	PACA-AU|1|391|0.00256	-	-	-	-	COSMIC,ICGC,
chr5	865433	865433	C	T	intronic	BRD9	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26583131	-	LICA-CN|1|402|0.00249	-	-	-	-	COSMIC,ICGC,
chr7	67786140	67786140	C	G	intergenic	LOC102723427,LOC100507468	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr17	79547321	79547321	C	G	intronic	NPLOC4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	mortality/aging	-	ICGC,
chr4	46119625	46119625	C	A	intronic	GABRG1	unknown	SNV	-	-	-	0.3273	rs35551969	-	-	-	-	COSN23365338	-	SKCA-BR|1|100|0.01000,MALY-DE|2|241|0.00830	-	-	-	-	COSMIC,COSMIC,ICGC,
chr12	77027426	77027426	T	A	intergenic	OSBPL8,ZDHHC17	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-UK|1|141|0.00709	-	-	-,behavior/neurological phenotype	-,-	ICGC,
chr11	107888267	107888267	C	G	intronic	CUL5	unknown	SNV	-	-	-	0.1347	rs11600706	-	0.111222	-	0.152	-	-	ESAD-UK|1|301|0.00332	-	-	-	Autism	ICGC,
chr17	40100812	40100812	G	A	intronic	TTC25	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr3	116561514	116561514	C	T	intergenic	TUSC7,LINC00901	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	206611705	206611705	C	T	intronic	NRP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Osteoarthritis, early-onset |Autism, association with 	ICGC,
chr1	100028925	100028925	C	T	intergenic	LPPR4,PALMD	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	-,-	ICGC,
chr2	226505192	226505192	G	A	intronic	NYAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr5	7967055	7967055	C	T	intergenic	MTRR,LOC729506	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23111369	-	MALY-DE|1|241|0.00415	-	-	growth/size phenotype,-	Increased serum methylmalonic acid levels, association with|Methionine synthase reductase deficiency|Pancreatic cancer, increased risk, association with|Spina bifida, increased risk in offspring, association|Temporomandibular disorder, association with|Homocystinuria.|Homocystinuria, cblE type|Altered activity|Colon cancer, sporadic, reduced risk|Coronary artery disease, association with|Coronary heart disease, increased risk, association with  |Homocystinuria,-	COSMIC,ICGC,
chr7	8896725	8896725	G	A	intergenic	NXPH1,PER4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,-	Breast cancer, increased risk  ,-	ICGC,
chr10	78447485	78447485	G	T	intergenic	C10orf11,KCNMA1	unknown	SNV	-	-	-	3.233e-05	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,mortality/aging	Albinism, autosomal recessive|Mental retardation ,Hypertension, association with |Generalized epilepsy and paroxysmal dyskinesia|Autism	ICGC,
chr15	52701099	52701099	C	T	intronic	MYO5A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Griscelli syndrome	ICGC,
chr9	8334360	8334360	T	C	intronic	PTPRD	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	CMDI-UK|1|136|0.00735	-	-	integument phenotype	Restless legs syndrome, association with|Ewing sarcoma	ICGC,
chr16	88052105	88052105	C	T	exonic	BANP	nonsynonymous	SNV	0.025	0.518	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr8	33784079	33784079	T	-	intergenic	DUSP26,UNC5D	unknown	deletion	-	-	-	-	-	-	-	-	-	COSN22808962	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr7	20340383	20340383	T	C	ncRNA_intronic	LOC101927769	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16373311	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr16	58105340	58105340	G	T	intergenic	MMP15,C16orf80	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	mortality/aging,-	-,-	ICGC,
chr9	140517381	140517381	A	C	intronic	EHMT1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8296828	-	PACA-CA|1|268|0.00373	-	-	mortality/aging	Mental retardation|Kleefstra syndrome.|Kleefstra syndrome|Intellectual disability and speech delay|Hypoplastic left heart syndrome|Ganglioma|Breast cancer, reduced risk, association with |Autism spectrum disorder|Autism|9q subtelomeric deletion syndrome	COSMIC,ICGC,
chr4	180615343	180615343	G	T	intergenic	LINC01098,LINC00290	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr12	118751788	118751788	G	T	intronic	TAOK3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr13	86105075	86105075	G	C	ncRNA_intronic	LINC00351	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16455447	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr3	86458435	86458435	C	T	intergenic	CADM2,RNU6-69P	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5544458	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr15	84644168	84644168	T	G	intronic	ADAMTSL3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1686451	-	LIRI-JP|1|258|0.00388	-	-	-	Glaucoma, primary congenital|Schizophrenia, reduced risk, association with 	COSMIC,COSMIC,ICGC,
chr6	136054382	136054382	C	T	intergenic	LINC00271,PDE7B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Reduced promoter activity	ICGC,
chr3	25482282	25482282	A	-	intronic	RARB	unknown	deletion	-	-	-	3.301e-05	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging	Microphthalmia and diaphragmatic hernia|PDAC syndrome	ICGC,
chr8	84643914	84643914	C	T	intergenic	LINC01419,RALYL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	23336601	23336601	G	A	intergenic	CDH12,PRDM9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,reproductive system phenotype	Lung cancer, susceptibility to, association with,Altered meiotic recombination hotspot usage|Azoospermia by meiotic arrest, association with |Azoospermia, non-obstructive 	ICGC,
chr1	95133638	95133638	C	T	ncRNA_intronic	LINC01057	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr22	35461703	35461703	C	T	upstream	ISX	unknown	SNV	-	-	-	6.465e-05	rs565446670	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	no phenotypic analysis	-	ICGC,
chrX	153039391	153039391	G	A	exonic	PLXNB3	synonymous	SNV	-	-	9.035e-05	0.0003	rs149200734	0.0001	-	0.0003	-	COSM4107829	STAD|1|395|0.00253,STES|1|395|0.00253	STAD-US|1|289|0.00346	-	-	vision/eye phenotype	Intellectual disability, nonsyndromic	COSMIC,COSMIC,COSMIC,TCGA,ICGC,
chrX	28980664	28980664	G	A	intronic	IL1RAPL1	unknown	SNV	-	-	-	4.698e-05	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	nervous system phenotype	Mental retardation, X-linked|Mental retardation with dysmorphic features|Mental retardation and autism|Intellectual disability, X-linked with dysmorphism|Intellectual disability, X-linked|Intellectual disability, dysmorphic signs, deafness & behavioural problems|Intellectual disability & behavioural problems|Developmental delay, learning disability & microcephaly|Autism spectrum disorder  |Asperger syndrome	ICGC,
chrX	126613328	126613328	C	T	intergenic	PRR32,ACTRT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr9	69873731	69873731	G	A	intergenic	LOC101928381,FOXD4L5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr1	14717657	14717657	G	C	intergenic	PRDM2,KAZN	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	mortality/aging,hematopoietic system phenotype	Bone mineral density, association with ,-	ICGC,
chr15	72839126	72839126	C	T	intronic	ARIH1	unknown	SNV	-	-	-	9.711e-05	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	Intellectual disability, nonsyndromic	ICGC,
chr5	98559436	98559436	G	A	intergenic	LOC100289230,CTD-2151A2.1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr2	56168449	56168449	C	T	intergenic	EFEMP1,MIR217	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype,-	Malattia leventinese,-	ICGC,
chr15	75266068	75266068	C	T	intergenic	RPP25,SCAMP5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8478059	-	OV-AU|1|93|0.01075	-	-	-,-	-,-	COSMIC,ICGC,
chr13	89138438	89138438	G	-	intergenic	LINC00397,LINC00433	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	ICGC,
chr12	19921847	19921847	G	A	intergenic	AEBP2,LOC100506393	unknown	SNV	-	-	-	0.1624	rs9634090	-	0.240415	-	0.319	-	-	ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488	-	-	integument phenotype,-	-,-	ICGC,
chr8	78533899	78533899	T	A	intergenic	PEX2,PKIA	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9269573	-	RECA-EU|1|422|0.00237	-	-	mortality/aging,normal phenotype	Zellweger syndrome|Refsum disease, infantile|Peroxisome biogenesis disorder|Cerebellar ataxia, autosomal recessive,-	COSMIC,ICGC,
chr6	159653828	159653828	A	G	exonic	FNDC1	nonsynonymous	SNV	0.228	0.008	0.0002	3.233e-05	rs560517397	0.0003	0.000199681	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr5	54312830	54312830	A	C	intergenic	ESM1,LOC102467081	unknown	SNV	-	-	-	0.2799	rs4527557	-	0.34385	-	0.283	-	-	ESAD-UK|2|301|0.00664	-	-	-,-	-,-	ICGC,
chr4	62087394	62087394	C	A	intergenic	NONE,LPHN3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24526151	-	GACA-CN|1|123|0.00813	-	-	-,behavior/neurological phenotype	-,-	COSMIC,ICGC,
chr5	103648499	103648499	C	T	intergenic	NUDT12,RAB9BP1	unknown	SNV	-	-	-	0.0636	rs62362376	-	0.0209665	-	0.036	COSN16214713	-	ESAD-UK|2|301|0.00664	-	-	-,-	-,-	COSMIC,ICGC,
chr4	100567216	100567216	G	A	intergenic	MTTP,DAPP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,hematopoietic system phenotype	Total cholesterol levels, association with|Reduced transcriptional activity|Nonalcoholic fatty liver disease, association with|Microsomal triglyceride transfer protein deficiency, mild|Lower plasma LDL cholesterol, association with|Increased malondialdehyde-modified low-density lipoprotein levels, association with|Hypercholesterolemia, modifier of|Diabetes, type 2, association with|Diabetes, MODY |Abetalipoproteinaemia,Autism	ICGC,
chr5	30559755	30559755	C	T	intergenic	LOC101929681,CDH6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,renal/urinary system phenotype	-,-	ICGC,
chr3	162383727	162383727	T	A	intergenic	OTOL1,LINC01192	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BOCA-UK|1|130|0.00769	-	-	-,-	-,-	ICGC,
chr8	34765665	34765665	T	C	intergenic	DUSP26,UNC5D	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr5	30346699	30346699	C	A	intergenic	LOC101929681,CDH6	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2101550	-	LIRI-JP|1|258|0.00388	-	-	-,renal/urinary system phenotype	-,-	COSMIC,ICGC,
chr6	102818449	102818449	C	-	intergenic	GRIK2,NONE	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	behavior/neurological phenotype,-	Mental retardation, non-syndromic, autosomal recessive,-	ICGC,
chr21	18794630	18794630	G	T	intergenic	LINC00478,C21orf37	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chrX	32954341	32954341	G	T	intronic	DMD	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Muscular dystrophy, Duchenne & Charcot-Marie-Tooth disease|Muscular dystrophy, Duchenne & autism|Muscular dystrophy, Duchenne|Muscular dystrophy, Becker.|Muscular dystrophy, Becker with cognitive impairment|Muscular dystrophy, Becker|Muscular dystrophy, Duchenne-like|Muscular dystrophy, Duchenne, epilepsy, macroglossia and mental retardation|Muscular dystrophy, Duchenne.|Muscular dystrophy, Duchenne/Becker|Muscular dystrophy, intermediate|Myopathy  |Potential protein deficiency|Schizophrenia|Muscular dystrophy, atypical|Muscular dystrophy & intellectual disability|Muscular dystrophy|Autism & neuromotor delay|Autism spectrum disorder|Behavioural issues|Cardiomyopathy, dilated|Cardiomyopathy, dilated, X-linked|Cardiomyopathy, dilated.|Dystrophinopathy|Elevated creatine kinase level|Mild Becker muscular dystrophy|Mental retardation, X-linked|Isolated cardiomyopathy|Increased serum creatine kinase levels|Global developmental delay/intellectual disability|Exertional myalgia, muscle stiffness & myoglobinuria	ICGC,
chr3	19968432	19968432	A	T	intronic	EFHB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr7	53334144	53334144	G	A	intergenic	POM121L12,LINC01446	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr15	92728535	92728535	A	G	intergenic	SLCO3A1,ST8SIA2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9091411	-	PAEN-AU|1|52|0.01923	-	-	-,mortality/aging	-,Autism spectrum disorder and epilepsy|Schizophrenia 	COSMIC,ICGC,
chr19	39991071	39991071	C	A	intronic	DLL3	unknown	SNV	-	-	-	0	-	-	-	-	-	-	-	PACA-AU|1|391|0.00256	-	-	mortality/aging	Congenital scoliosis |Spondylocostal dysostosis|Vertebral malformation	ICGC,
chr7	145053275	145053275	G	A	intergenic	TPK1,CNTNAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	Thiamine pyrophosphokinase deficiency|Leigh-like disease|Colorectal cancer, increased risk, association with |Autism,Gilles de la Tourette syndrome|Intellectual disability  |Learning disability & speech problems|Mental retardation |Mental retardation, Pitt-Hopkins-like|Multiple congenital anomalies  |Seizures, neonatal |Speech delay  |Stuttering |Epileptic encephalopathy  |Epilepsy and schizophrenia|Autism|Autism spectrum disorder |Autism spectrum disorder, modifier of|Childhood apraxia of speech|Cortical dysplasia-focal epilepsy syndrome|Developmental and/or speech and/or behavioural problems|Developmental delay  |Developmental delay & dysmorphic features|Dyslexia 	ICGC,
chr8	97889244	97889244	T	G	intronic	CPQ	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	Mild mental retardation and generalised overgrowth	ICGC,
chr16	10140467	10140467	G	C	intronic	GRIN2A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	integument phenotype	Intellectual disability  |Landau-Kleffner syndrome|Landau-Kleffner syndrome, atypical rolandic epilepsy, dysphasia, CSWS syndrome|Landau-Kleffner syndrome, verbal dyspraxia|Landau-Kleffner syndrome/benign epilepsy with centrotemporal spikes/atypical benign partial epilepsy|Mental retardation with abnormal EEG|Partial epilepsy, atypical benign|Rolandic epilepsy |Schizophrenia|Schizophrenia, chronic outcome, association with|Seizure disorders of rolandic region & intellectual disability|Increased hippocampal and amygdala volumes, association with|Epileptic encephalopathy, verbal dyspraxia|Epileptic encephalopathy, benign childhood epilepsy|Alcohol dependence, association with|Atypical rolandic epilepsy, absence epilepsy|Atypical rolandic epilepsy, verbal dyspraxia|Benign epilepsy with centrotemporal spikes|Epilepsy with cognitive impairment|Epilepsy-aphasia syndrome|Epilepsy, childhood-onset|Epileptic encephalopathy|Epileptic encephalopathy, abnormal EEG & developmental delay|Epileptic encephalopathy, atypical rolandic epilepsy, dysphasia|Epileptic encephalopathy, atypical rolandic epilepsy, verbal dyspraxia	ICGC,
chr6	9082704	9082704	A	T	intergenic	LOC100506207,TFAP2A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	-,Schizophrenia, episodic, association |Orofacial clefting |Developmental delay/intellectual disability and nasolacrimal duct obstruction|Cisplatin resistance|Branchio-oculo-facial syndrome with thyroglossal duct cyst|Branchio-oculo-facial syndrome	ICGC,
chr21	24969192	24969192	G	A	intergenic	D21S2088E,LOC101927869	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	157656017	157656017	C	G	intergenic	C3orf55,SHOX2	unknown	SNV	-	-	-	0.1859	rs12486852	-	0.271166	-	0.159	-	-	ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488	-	-	-,mortality/aging	-,Schizophrenia	ICGC,
chr4	72263323	72263323	A	C	exonic	SLC4A4	nonsynonymous	SNV	0.217	0.773	-	-	-	-	-	-	-	COSM6782781	-	-	-	-	integument phenotype	Reduced transport activity|Proximal renal tubular acidosis|Migraine 	COSMIC,COSMIC,
chr13	57138182	57138182	G	A	intergenic	MIR5007,PRR20A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr6	75527901	75527901	C	G	intergenic	LOC101928516,COL12A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,mortality/aging	-,Bethlem-like myopathy|Joint hypermobility syndrome with myopathy|Lung cancer, susceptibility to, association with	ICGC,
chr17	31505039	31505039	C	T	intronic	ASIC2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	taste/olfaction phenotype	Dyslexia 	ICGC,
chr2	51648383	51648383	C	T	intergenic	NRXN1,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Hypotonia|Hypotonia & encephalopathy|Increased white matter volume, association with|Intellectual disability  |Intellectual disability & attention deficit hyperactivity disorder|Intellectual disability & hearing loss|Intellectual disability & pervasive developmental disorder|Intellectual disability and autism|Intellectual disability, nonsyndromic |Intellectual disability, seizures, dysmorphisms & language delay|Growth retardation  |Epilepsy, myoclonic seizures & speech delay|Developmental disorder|Developmental disorder & attention deficit hyperactivity disorder|Developmental disorder, seizures & attention deficit hyperactivity disorder|Developmental/intellectual disability, hypotonia & dysmorphic features|Disorder of muscle, ligament & fascia|Encephalopathy  |Epilepsy  |Epilepsy with cognitive impairment / autism spectrum disorder|Epilepsy with focal seizures|Epilepsy, generalised |Intellectual disability, seizures, language delay & hypotonia|Language delay|Learning difficulties|Respiratory distress & sepsis|Respiratory distress syndrome|Schizophrenia |Schizophrenia, childhood onset |Schizophrenia, disorganised type|Seizures, generalized tonic-clonic & attention deficit hyperactivity disorder|Sensory integration disorder & attention deficit hyperactivity disorder|Speech delay & social communication difficulties|Tourette syndrome|Pervasive developmental disorder / hypotonia|Pervasive developmental disorder|Pervasive developmental delay / mental retardation, lack of coordination & hearing loss|Learning difficulties, ADHD & autism|Mental retardation|Mental retardation, autism, vertebral malformations|Mental retardation, Pitt-Hopkins-like|Microcephaly & mental retardation|Multiple congenital anomalies  |Multiple disabilities|Myoclonic epilepsy   |Neurodevelopmental disorder  |Vertebral anomalies|Developmental delay, speech delay & social communication difficulties|Attention deficit hyperactivity disorder |Autism spectrum disorder, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability & language delay|Autism spectrum disorder, intellectual disability, dysmorphisms, developmental delay & language delay|Autism spectrum disorder, intellectual disability, seizures & developmental delay|Autism spectrum disorder, intellectual disability, seizures, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability, seizures, dysmorphisms & language delay|Autism spectrum disorder, seizures, developmental delay & language delay|Autism, intellectual disability & attention deficit hyperactivity disorder|Autistic disorder|Autism spectrum disorder with developmental & speech delay|Autism spectrum disorder & seizures|Autism spectrum disorder & language delay|Autism |Autism & learning difficulties|Autism & mental retardation|Autism & seizures|Autism spectrum disorder|Autism spectrum disorder & attention deficit hyperactivity disorder|Autism spectrum disorder & developmental delay|Autism spectrum disorder & dysmorphic features|Autism spectrum disorder & intellectual disability|Behavioural problems|Congenital heart defect  |Craniofacial dysmorphism|Developmental delay & speech/motor delay|Developmental delay with early-onset epilepsy|Developmental delay, dysmorphic features & short stature|Developmental delay, epilepsy, autism|Developmental delay, language delay & hypotonia|Developmental delay, learning difficulties, ADHD|Developmental delay, microcephaly & behavioural problems|Developmental delay, pulmonic stenosis & autism spectrum disorder|Developmental delay, short stature and diaphragmatic hernia|Developmental delay, speech delay & microcephaly|Developmental delay & seizures|Developmental delay & seizure disorder|Cystic hygroma, hydrops & micrognathia|Cystic hygroma, shortened upper limbs & fetal demise|Developmental & speech delay|Developmental delay|Developmental delay / autism|Developmental delay & autism|Developmental delay & dysmorphic features|Developmental delay & epilepsy|Developmental delay & hypotonia|Developmental delay & multiple congenital anomalies,-	ICGC,
chr2	120750222	120750222	G	C	intergenic	PTPN4,EPB41L5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	immune system phenotype,mortality/aging	-,-	ICGC,
chr5	19488684	19488684	G	A	intronic	CDH18	unknown	SNV	-	-	-	9.703e-05	rs536503277	-	0.000599042	-	-	COSN7926419	-	PACA-AU|1|391|0.00256	-	-	-	Anorectal malformation	COSMIC,ICGC,
chr17	62173507	62173507	C	T	intronic	ERN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	-	ICGC,
chr11	55099718	55099718	C	T	intergenic	TRIM51HP,OR4A16	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7013341	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	COSMIC,ICGC,
chr7	150575734	150575734	G	A	intergenic	AOC1,KCNH2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Miscarriage and intrauterine foetal loss|Short QT syndrome|Sudden arrhythmic death syndrome|Sudden infant death syndrome|Sudden unexplained death  |Syncope, increased risk|Takotsubo cardiomyopathy  |Tetralogy of Fallot|Torsades de pointes following myocardial infarction, association with|Torsades de Pointes, drug-induced, association with|Ventricular fibrillation in coronary artery disease|Long QT sysndrome|Long QT syndrome, modifier|Long QT syndrome, latent|Altered channel function|Atrial fibrillation ?|Atrial fibrillation, association with|Brugada syndrome    |Brugada syndrome, phenotype modifier |Foetal ventricular tachycardia|Long QT syndrome|Long QT syndrome & atrial fibrillation|Long QT syndrome 2|Long QT syndrome, drug-associated|Long QT syndrome, epilepsy & sudden death	ICGC,
chr10	58057730	58057730	A	C	intergenic	MTRNR2L5,ZWINT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr2	91803211	91803211	A	G	intergenic	NONE,LOC654342	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr13	105471683	105471683	G	A	intergenic	MIR548AS,DAOA-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	180739540	180739540	C	T	intergenic	LINC01098,LINC00290	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	61401212	61401212	C	T	intergenic	NONE,LPHN3	unknown	SNV	-	-	-	-	rs539685616	-	0.000199681	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,behavior/neurological phenotype	-,-	ICGC,
chrX	95325907	95325907	C	A	intergenic	NONE,LOC643486	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23082304	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	COSMIC,ICGC,
chr9	101195600	101195600	G	A	intronic	GABBR2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19280103	-	CLLE-ES|1|510|0.00196	-	-	integument phenotype	-	COSMIC,ICGC,
chr7	124250501	124250501	C	T	intergenic	LOC101928211,GPR37	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,behavior/neurological phenotype	-,Autism spectrum disorder  	ICGC,
chr13	109410174	109410174	C	T	intronic	MYO16	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17116149	-	-	-	-	-	-	COSMIC,
chr18	39300199	39300199	C	T	intergenic	KC6,PIK3C3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	-,mortality/aging	-,Intellectual disability  |Bipolar disorder/schizophrenia association with|Anti-Ro & anti-Sm antibodies, in lupus, in African-Americans, association	ICGC,
chr2	166901766	166901766	T	C	exonic	SCN1A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSM6772867	-	-	-	-	mortality/aging	Lennox-Gastaut syndrome|Intractable epilepsy/Myoclonic epilepsy, borderline.|Intractable epilepsy.|Intractable epilepsy  |Infantile seizures, microcephaly, brain anomalies, facial dysmorphism, growth retardation & neuromuscular scoliosis|Hepatic coma|Hemiplegic migraine and epilepsy|Hemiplegic migraine 3.|Hemiplegic migraine 2|Hemiplegic migraine|Hemiconvulsion-hemiplegia syndrome|Generalized epilepsy with febrile seizures plus|Generalized epilepsy of infancy|Generalised epilepsy with febrile seizures plus 2|Generalised epilepsy  |Migrating partial seizures of infancy|Myoclonic astatic epilepsy|Myoclonic epilepsy and migraine|Seizures, developmental delay, growth retardation, microcephaly & micrognathia|Rasmussen encephalitis|Partial seizures of infancy, malignant migrating|Partial epilepsy with febrile seizures plus|Parental mosaicism, GEFS+ father and Dravet syndrome child|Panayiotopoulos syndrome|Myoclonic-astatic epilepsy |Myoclonic seizures|Myoclonic epilepsy, progressive.|Myoclonic epilepsy, borderline.|Myoclonic epilepsy, borderline|Myoclonic epilepsy of infancy/Myoclonic epilepsy, borderline.|Myoclonic epilepsy of infancy.|Myoclonic epilepsy of infancy|Sudden unexpected death in epilepsy|Acute encephalopathy  |Dravet syndrome with acute encephalopathy|Dravet syndrome C|Dravet syndrome B |Dravet syndrome & mitochondrial electron transport chain defects|Dravet syndrome & mental retardation|Dravet syndrome|Developmental disorder and intellectual disability|Cryptogenic generalised epilepsy|Cryptogenic focal epilepsy|Autism spectrum disorder  |Autism |Altered carbamazepine response|Acute necrotizing encephalopathy|Acute encephalopathy with biphasic seizures & late reduced diffusion|Dravet syndrome, atypical|Dravet syndrome, atypical multifocal.|Dravet syndrome.|Febrile seizures, association with|Febrile seizures plus|Febrile seizures|Epileptic encephalopathy, early onset|Epileptic encephalopathy  |Epilepsy, symptomatic, reduced risk|Epilepsy, severe|Epilepsy, idiopathic  |Epilepsy, early-onset|Epilepsy |Epilepsy risk, association with|Epilepsy with cognitive impairment / autism spectrum disorder|Epilepsy-aphasia|Epilepsy-aphasia with febrile seizures plus|Epilepsy, apnoea, mental retardation & dysmorphic features	COSMIC,COSMIC,COSMIC,
chr2	226273784	226273784	A	-	exonic	NYAP2	frameshift	deletion	-	-	-	-	-	-	-	-	-	COSM5518379	-	BTCA-JP|1|239|0.00418	-	-	-	-	COSMIC,ICGC,
chr5	26084173	26084173	T	G	intergenic	LOC340107,CDH9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr4	33650023	33650023	A	T	intergenic	NONE,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr8	114605018	114605018	G	A	intergenic	CSMD3,TRPS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	Schizophrenia  |Colorectal cancer ,Tricho-rhino-phalangeal syndrome with supernumerary teeth|Tricho-rhino-phalangeal syndrome III|Tricho-rhino-phalangeal syndrome I|Tricho-rhino-phalangeal syndrome|Infantile scoliosis & developmental delay|Femoral neck width, association with|Ambras syndrome	ICGC,
chr4	188206405	188206405	T	C	intergenic	FAT1,LOC339975	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	integument phenotype,-	Autism,-	ICGC,
chr12	116863076	116863076	C	T	intergenic	MED13L,MIR4472-2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	Intellectual disability, nonsyndromic, no cardiac involvement|Hypotonia, learning difficulties & perimembranous ventricular septal defect|Hypotonia, intellectual disability, conotruncal heart defect & facial anomalies|Congenital heart defect|Colorectal cancer, increased risk, association with |Autism,-	ICGC,
chr5	162681996	162681996	G	T	intergenic	GABRG2,CCNG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	EOPC-DE|1|202|0.00495	-	-	mortality/aging,mortality/aging	Seizures, generalized tonic-clonic|Myoclonic epilepsy of infancy |Generalized epilepsy with febrile seizures plus|Febrile seizures|Epilepsy, susceptibility to|Epilepsy, idiopathic generalised  |Epilepsy, childhood absence with febrile seizures|Dravet syndrome,-	ICGC,
chr4	45538711	45538711	G	A	intergenic	GNPDA2,GABRG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr14	92128193	92128193	T	C	intronic	CATSPERB	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5393041	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr2	35208381	35208381	G	T	intergenic	MYADML,LOC100288911	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27991783	-	PRAD-CA|1|308|0.00325	-	-	-,-	-,-	COSMIC,ICGC,
chr14	105520789	105520789	C	T	intronic	GPR132	unknown	SNV	-	-	-	0	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	hematopoietic system phenotype	-	ICGC,
chr11	3464074	3464074	T	C	intergenic	LOC650368,TRPC2	unknown	SNV	-	-	-	0.5794	rs11027259	-	0.45607	-	0.377	-	-	LUSC-KR|1|170|0.00588	-	-	-,hematopoietic system phenotype	-,-	ICGC,
chr17	38183194	38183194	G	T	exonic	MED24	nonsynonymous	SNV	0.004	0.999	-	-	-	-	-	-	-	COSM5562676	-	-	-	-	mortality/aging	-	COSMIC,COSMIC,
chr3	60163590	60163590	G	A	intronic	FHIT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	-	ICGC,
chr2	212596734	212596734	C	T	intronic	ERBB4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|2|183|0.01093	-	-	integument phenotype	Schizophrenia |Oligohydramnios|Intellectual disability, hyperactivity & speech developmental delay|Increased promoter activity|Hepatocellular carcinoma, increased risk, association with|Epileptic encephalopathy, early infantile 3|Breast and colorectal cancer, association with|Bipolar disorder, association with |Bipolar disorder |Autism spectrum disorder  |Amyotrophic lateral sclerosis type 19	ICGC,
chr5	30178458	30178458	G	A	intergenic	LOC101929681,CDH6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,renal/urinary system phenotype	-,-	ICGC,
chr4	113067441	113067441	A	T	intronic	C4orf32	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5050842	-	LINC-JP|1|394|0.00254	-	-	-	-	COSMIC,ICGC,
chr13	55144046	55144046	G	A	intergenic	MIR1297,MIR5007	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	1628138	1628138	T	G	intergenic	TPO,PXDN	unknown	SNV	-	-	-	0.1106	rs67500366	-	0.0786741	-	0.145	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	Total iodide organification defect|Thyroid peroxidase deficiency|Thyroid dyshormonogenesis|Partial iodide organification defect|Intellectual disability  |Hypothyroidism.|Hypothyroidism, association with |Hypothyroidism|Goitrous hypothyroidism.|Goitrous hypothyroidism|Goitre|Foetal hyperthyroidism,Cataract-microcornea with corneal opacity	ICGC,
chr13	70479960	70479960	C	T	intronic	KLHL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	behavior/neurological phenotype	Breast cancer, increased risk  	ICGC,
chr11	31247515	31247515	G	A	intergenic	DCDC5,DCDC1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21210688	-	BRCA-EU|1|569|0.00176	-	-	-,-	Dyslexia |Schizophrenia  ,-	COSMIC,ICGC,
chrX	63856413	63856413	G	C	intergenic	MTMR8,ZC4H2	unknown	SNV	-	-	-	0.1291	rs67138894	-	-	-	0.116	-	-	MALY-DE|1|241|0.00415	-	-	-,-	Autism spectrum disorder,Arthrogryposis multiplex congenita and intellectual disability	ICGC,
chr5	95170733	95170733	G	T	intergenic	GLRX,C5orf27	unknown	SNV	-	-	-	0.0179	rs114507729	-	0.0141773	-	0.014	COSN519348	OV|1|469|0.00213	-	-	-	vision/eye phenotype,-	-,-	COSMIC,TCGA,
chr4	46715827	46715827	C	T	intergenic	GABRA2,COX7B2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype,-	-,-	ICGC,
chr1	227873702	227873702	C	T	intergenic	ZNF678,ZNF847P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr8	31749591	31749591	T	C	intronic	NRG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	integument phenotype	Sudden cardiac death, association with|Schizophrenia, association with  |Schizophrenia in African Americans, association with|Prepulse inhibition, association with|Perceptual aberration of schizotypal personality, association with|Increased lateral ventricle volume in schizophrenia|Hirschsprung disease|Developmental delay, hypotonia & microcephaly|Alzheimers disease, association with	ICGC,
chr2	220366563	220366563	C	A	intronic	GMPPA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	RECA-EU|1|422|0.00237	-	-	-	Congenital disorder of glycosylation  	ICGC,
chr2	233409610	233409610	A	G	exonic	CHRNG	nonsynonymous	SNV	0.28	0.571	0.0004	3.236e-05	rs138232636	0.0005	0.000399361	0.0002	-	-	-	-	Multiple_pterygium_syndrome_Escobar_type	-	integument phenotype	Arthrogryposis multiplex congenita with axoglial defects|Escobar syndrome|Pterygium syndrome	ClinVar,
chr7	48669762	48669762	T	A	intronic	ABCA13	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15856196	-	PACA-CA|1|268|0.00373	-	-	-	Schizophrenia / depression|Schizophrenia / bipolar disorder / depression |Schizophrenia  |Bipolar disorder  |Autism|Anorectal malformation	COSMIC,ICGC,
chr11	47371614	47371615	GT	-	exonic	MYBPC3	frameshift	deletion	-	-	-	-	rs730880680	-	-	-	-	-	-	-	not_provided	-	behavior/neurological phenotype	Hypertrophic cardiomyopathy with inclusion body myositis|Increased left ventricular wall thickness|Left ventricle dysfunction in CAD, association with|Left ventricular hypertrophy |Left ventricular hypertrophy.|Left ventricular noncompaction|Potential protein deficiency|Skeletal myopathy|Sudden infant death syndrome  |Hypertrophic cardiomyopathy and left ventricular noncompaction.|Dilated cardiomyopathy|Cadiomyopathy, dilated|Cardiomyopathy  |Cardiomyopathy, association with|Cardiomyopathy, dilated|Cardiomyopathy, hypertrophic|Cardiomyopathy, hypertrophic.|Cardiomyopathy, hypertrophic/dilated|Cardiomyopathy, left ventricular noncompaction|Cardiomyopathy, left-ventricular noncompaction	ClinVar,
chr8	15017653	15017653	G	A	intronic	SGCZ	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Cervical artery dissection	ICGC,
chr1	158419798	158419798	C	T	intergenic	OR10K2,OR10K1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	117503458	117503458	C	T	intergenic	DPP10,DDX18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Autism spectrum disorder,-	ICGC,
chr18	51239150	51239150	T	G	intergenic	LOC102724651,MBD2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,-	ICGC,
chr9	116928680	116928680	-	TCCATCCC	intronic	COL27A1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	mortality/aging	Schizophrenia	ICGC,
chr8	40259844	40259844	C	A	intergenic	C8orf4,ZMAT4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25984582	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr4	155749562	155749562	C	T	UTR3	RBM46	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26574347	-	LICA-CN|1|402|0.00249	-	-	-	-	COSMIC,ICGC,
chr14	40779673	40779673	G	A	intergenic	FBXO33,LOC644919	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26394076	-	PRAD-UK|1|140|0.00714	-	-	-,-	-,-	COSMIC,ICGC,
chr3	101562980	101562980	G	A	intronic	NFKBIZ	unknown	SNV	-	-	-	0.7687	rs645781	-	0.789137	-	0.754	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype	-	ICGC,
chr11	41847302	41847302	C	T	ncRNA_intronic	LOC102723644	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr3	75866245	75866245	C	T	intergenic	ZNF717,ROBO2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	Potential protein deficiency,Autism spectrum disorder  |Urinary tract anomalies|Vesicoureteral reflux	ICGC,
chr1	220452175	220452175	G	C	intergenic	RAB3GAP2,MARK1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Martsolf syndrome|Spastic paraplegia 69|Warburg Micro syndrome,-	ICGC,
chr17	5522414	5522414	C	T	intergenic	NLRP1,LOC339166	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Vitiligo-association multiple autoimmune disease susceptibility|Schizophrenia|Rheumatoid arthritis, increased risk, association with  |Increased IL-1b release|Corneal intraepithelial dyskeratosis|Autoimmunity|Autoimmune Addison's disease, association with|Autoimmune Addison's disease and diabetes type 1, association,-	ICGC,
chr2	209345618	209345618	C	T	intronic	PTH2R	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	no phenotypic analysis	Autism spectrum disorder	ICGC,
chr17	35608213	35608215	AGG	-	intronic	ACACA	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging	Disordered endogenous fatty acid metabolism|Ovarian cancer 	ICGC,
chr3	57983401	57983401	G	A	intergenic	SLMAP,FLNB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	craniofacial phenotype,mortality/aging	Brugada syndrome    ,Spondylocarpotarsal syndrome|Larsen syndrome, autosomal dominant|Boomerang dysplasia|Atelosteogenesis type I|Atelosteogenesis	ICGC,
chr16	23228159	23228159	C	T	UTR3	SCNN1G	unknown	SNV	-	-	-	0.0306	rs72647549	-	0.0307508	-	0.022	-	-	-	Pseudoprimary_hyperaldosteronism|Pseudohypoaldosteronism,_Type_I,_Recessive	-	integument phenotype	Pseudohypoaldosteronism 1|Potential protein deficiency|Liddle syndrome.|Liddle syndrome|Hypertension|Gain of function|Decreased systolic and pulse pressure, association|Bronchiectasis	ClinVar,
chrX	84923039	84923039	G	A	intergenic	POF1B,CHM	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	normal phenotype,mortality/aging	Premature ovarian failure, association with,Choroideraemia|Potential protein deficiency	ICGC,
chr1	163512624	163512624	T	A	intergenic	LOC100422212,PBX1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8646786	-	OV-AU|1|93|0.01075	-	-	-,integument phenotype	-,Schizophrenia	COSMIC,ICGC,
chr5	62898426	62898426	C	A	intergenic	IPO11,HTR1A	unknown	SNV	-	-	-	0.0008	rs145141785	-	0.000599042	-	-	-	-	LAML-KR|1|205|0.00488	-	-	-,mortality/aging	-,Tourette syndrome |Reduced expression|Personality disorders, association with.|Menstrual cycle-dependent fever|Major depression and suicide, association with|Major depression|Impulsive behaviour, association with|Epileptic seizures |Comorbid depression and generalized anxiety, association with|Attenuated agonist-mediated receptor down-regulation and desensitization	ICGC,
chr11	113127265	113127265	G	A	intronic	NCAM1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging	Neural tube defects, risk, association with	ICGC,
chrX	112799953	112799953	G	A	intergenic	LOC101928437,HTR2C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Tourette syndrome, association with|Tardive dyskinesia, association with|Suicide, association with|Reduced promoter activity|Premature ejaculation, association with|Increased promoter activity, association with|Hallucinations, in Alzheimer disease, association|Greater dopamine release|Alcohol use disorder comorbidity, association with|Anxiety, and Appetite disturbances in females, in Alzheimer disease, association with.|Bipolar affective disorder, association with|BMI, association with|Depression, in Alzheimer disease, association with.|Diabetes, association with	ICGC,
chr3	187366645	187366645	G	A	intergenic	RTP4,SST	unknown	SNV	-	-	-	0.0002	rs532524632	-	0.000199681	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,immune system phenotype	-,Breast cancer, descreased risk, association with	ICGC,
chr7	8765010	8765010	C	T	intronic	NXPH1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6897121	-	PACA-AU|1|391|0.00256,LIRI-JP|1|258|0.00388	-	-	mortality/aging	Breast cancer, increased risk  	COSMIC,COSMIC,ICGC,
chr3	99434682	99434682	G	A	ncRNA_intronic	MIR548G	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23431552	-	EOPC-DE|1|202|0.00495	-	-	-	-	COSMIC,ICGC,
chr7	90682392	90682392	C	T	intronic	CDK14	unknown	SNV	-	-	-	0.0087	rs58392208	-	0.0257588	-	0.007	-	-	LAML-KR|1|205|0.00488	-	-	-	Potential protein deficiency	ICGC,
chr1	242917445	242917445	-	A	intergenic	PLD5,LINC01347	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	ICGC,
chr7	153742328	153742328	T	-	intronic	DPP6	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	nervous system phenotype	Autism spectrum disorder  |Schizophrenia  |Ventricular fibrillation, idiopathic 	ICGC,
chr4	127516380	127516380	C	A	intergenic	MIR2054,INTU	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17570544	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,Anorectal malformation	COSMIC,ICGC,
chr5	45509439	45509439	T	C	intronic	HCN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	integument phenotype	Idiopathic epilepsy, generalised 	ICGC,
chr8	99392033	99392033	C	A	intergenic	NIPAL2,KCNS2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,normal phenotype	-,-	ICGC,
chr6	76763093	76763093	C	T	intronic	IMPG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Macular dystrophy, vitelliform	ICGC,
chr14	41274577	41274577	G	A	intergenic	FBXO33,LOC644919	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	98186373	98186373	G	A	UTR3	DPYD	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Schizophrenia  |Reduced enzyme activity|Intellectual disability and autism|Intellectual disability  |Increased enzyme activity|Fluoropyrimidine-related toxicity, association with|Dihydropyrimidine dehydrogenase deficiency, partial|Dihydropyrimidine dehydrogenase deficiency|Autism spectrum disorder  	ICGC,
chr1	198355139	198355139	G	A	intergenic	NEK7,ATP6V1G3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	-,-	ICGC,
chr8	104604430	104604430	C	G	intronic	RIMS2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9520435	-	OV-AU|1|93|0.01075	-	-	mortality/aging	-	COSMIC,ICGC,
chr4	158497861	158497861	T	A	downstream	LOC340017	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr4	25734301	25734301	T	A	intergenic	SLC34A2,SEL1L3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Potential protein deficiency|Pulmonary alveolar microlithiasis,-	ICGC,
chr5	170252510	170252510	A	G	intergenic	GABRP,RANBP17	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	normal phenotype,-	-,-	ICGC,
chr6	62593385	62593385	T	C	intronic	KHDRBS2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6591537	-	PBCA-DE|1|499|0.00200	-	-	-	-	COSMIC,ICGC,
chr8	79610699	79610699	C	T	exonic	ZC2HC1A	nonsynonymous	SNV	0.178	0.138	-	-	-	-	-	-	-	COSM70696	OV|1|469|0.00213	-	-	-	-	-	COSMIC,TCGA,
chr11	56610538	56610538	C	G	intergenic	MIR6128,LOC101927120	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19149241	-	CLLE-ES|1|510|0.00196	-	-	-,-	-,-	COSMIC,ICGC,
chr7	30990500	30990500	G	A	intergenic	AQP1,GHRHR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,integument phenotype	Lower plasma sodium concentration in cirrhosis, association with|Colton-null blood group variant|Colton blood group variant|Channel-forming integral protein deficiency,Reduced promoter activity|Pituitary dwarfism|Increased tumour sensitivity to GHRH|Growth hormone deficiency, isolated|Growth hormone deficiency 1B|Growth hormone deficiency (type 1B)|Growth hormone deficiency|Breast cancer, decreased risk, association with	ICGC,
chr20	52830938	52830938	A	G	exonic	PFDN4	nonsynonymous	SNV	0.051	0.412	-	-	-	-	-	-	-	COSM6467760	-	-	-	-	-	-	COSMIC,
chr6	126346257	126346257	A	C	intronic	TRMT11	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-UK|1|140|0.00714	-	-	-	-	ICGC,
chr8	110331007	110331007	A	G	intronic	NUDCD1	unknown	SNV	-	-	-	3.231e-05	-	-	-	-	-	COSN2251080	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr2	127098310	127098310	T	C	intergenic	CNTNAP5,GYPC	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16371099	-	LIRI-JP|1|258|0.00388	-	-	-,-	Autism,Glycophorin C variant|Gerbich-negative blood group|Elliptocytosis|Duch blood group	COSMIC,ICGC,
chr3	31997598	31997598	C	T	intronic	OSBPL10	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9548136	-	OV-AU|1|93|0.01075	-	-	-	-	COSMIC,ICGC,
chr13	57581215	57581215	A	T	intergenic	MIR5007,PRR20A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr10	18896673	18896673	A	C	intronic	NSUN6	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1480490	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr8	79724920	79724920	T	A	intergenic	IL7,STMN2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16387226	-	LIRI-JP|1|258|0.00388	-	-	hematopoietic system phenotype,-	Increased expression,-	COSMIC,ICGC,
chr11	90047833	90047833	T	G	ncRNA_intronic	DISC1FP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr22	18913198	18913198	C	T	intronic	PRODH	unknown	SNV	-	-	-	-	-	-	-	-	-	COSM6571604	-	-	-	-	behavior/neurological phenotype	Increased proline level in schizophrenia|Increased enzyme activity|Hyperprolinaemia, association with.|Hyperprolinaemia, association with|Hyperprolinaemia|Autism, association with|Autism  	COSMIC,
chr4	131837213	131837213	A	T	intergenic	LOC101927282,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	193327494	193327494	T	A	intergenic	CDC73,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Potential protein deficiency|Parathyroid carcinoma/adenoma|Parathyroid carcinoma.|Parathyroid carcinoma|Parathyroid cancer|Parathyroid adenoma.|Parathyroid adenoma |Hyperparathyroidism, primary.|Hyperparathyroidism, primary|Hyperparathyroidism, isolated|Hyperparathyroidism-jaw tumour syndrome.|Hyperparathyroidism-jaw tumour syndrome,-	ICGC,
chr1	230178049	230178049	A	G	intergenic	URB2,GALNT2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,Higher plasma HDL cholesterol  |Improved plasma triglyceride clearance	ICGC,
chr6	38561772	38561772	G	A	exonic	BTBD9	nonsynonymous	SNV	0.005	0.996	-	-	-	-	-	-	-	COSM5688580	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	Periodic limb movements in sleep, association 	COSMIC,COSMIC,ICGC,
chr4	44928129	44928129	G	A	intergenic	GNPDA2,GABRG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr17	72807450	72807450	C	T	intronic	TMEM104	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	-	ICGC,
chr11	17341219	17341219	G	A	intronic	NUCB2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	cardiovascular system phenotype	Childhood adiposity, reduced risk|Obesity |Obesity, male, association with	ICGC,
chr11	106933763	106933763	A	T	intergenic	GUCY1A2,CWF19L2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15833996	-	LIRI-JP|1|258|0.00388	-	-	hematopoietic system phenotype,-	-,-	COSMIC,ICGC,
chr5	118113983	118113983	G	A	intergenic	LOC102467225,DTWD2	unknown	SNV	-	-	-	-	rs551167786	-	0.000199681	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chrX	49387641	49387641	-	A	intergenic	GAGE1,PAGE1	unknown	insertion	-	-	-	0	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr5	152912305	152912305	C	T	intronic	GRIA1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype	Intellectual disability  	ICGC,
chr21	18347130	18347130	C	T	intergenic	LINC00478,C21orf37	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1882834	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr14	30649481	30649481	C	T	intergenic	PRKD1,G2E3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	mortality/aging,mortality/aging	Autism spectrum disorder|Mental retardation and microcephaly|Obesity ,-	ICGC,
chrX	74706406	74706406	G	A	intronic	ZDHHC15	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	embryogenesis phenotype	Mental retardation, X-linked	ICGC,
chr5	29120087	29120087	T	C	intergenic	LOC101929645,LOC101929681	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17715933	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr12	61010513	61010513	C	A	intergenic	SLC16A7,FAM19A2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	Autism spectrum disorder,-	ICGC,
chr15	77975913	77975913	G	C	intergenic	LOC101929478,LOC645752	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23336965	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	COSMIC,ICGC,
chr7	22058906	22058906	C	T	intergenic	CDCA7L,RAPGEF5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	Schizophrenia|Autism,-	ICGC,
chr14	106416407	106416407	A	C	intergenic	KIAA0125,ADAM6	unknown	SNV	-	-	-	0.0058	rs148418859	-	0.00998403	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr10	23080908	23080908	T	C	intergenic	PIP4K2A,ARMC3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	Schizophrenia, association with  |Hyperdiploid acute lymphoblastic leukaemia, association with,-	ICGC,
chr5	19475839	19475839	T	C	intronic	CDH18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	Anorectal malformation	ICGC,
chr3	163914794	163914794	T	A	intergenic	LINC01192,SI	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,Sucrase isomaltase deficiency	ICGC,
chr14	34072479	34072479	A	G	intronic	NPAS3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Mental illness|Schizophrenia	ICGC,
chr17	12101111	12101111	C	T	intergenic	MAP2K4,LINC00670	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Acute myeloid leukaemia, reduced risk, association with|Cervical cancer, reduced risk, association with.|Colorectal cancer, reduced risk, association with|Prostate cancer, decreased risk,-	ICGC,
chr3	116508801	116508801	A	T	intergenic	TUSC7,LINC00901	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7619295	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	COSMIC,ICGC,
chr8	112082264	112082264	G	T	intergenic	KCNV1,CSMD3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9251816	-	RECA-EU|1|422|0.00237	-	-	behavior/neurological phenotype,-	-,Schizophrenia  |Colorectal cancer 	COSMIC,ICGC,
chr4	102030921	102030921	-	A	intronic	PPP3CA	unknown	insertion	-	-	-	3.302e-05	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	-	ICGC,
chr3	114312124	114312124	A	-	intronic	ZBTB20	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Autism spectrum disorder|Hypotonia and language and motor delays	ICGC,
chr3	17014212	17014212	C	T	intronic	PLCL2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype	-	ICGC,
chr13	85344210	85344210	G	A	intergenic	LINC00333,LINC00351	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr10	74354667	74354667	C	A	intronic	MICU1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-	Proximal myopathy and learning difficulties	ICGC,
chr15	47031632	47031632	T	G	intergenic	SQRDL,SEMA6D	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,immune system phenotype	-,Developmental language disorder 	ICGC,
chr20	34601048	34601048	-	A	intronic	CNBD2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr13	94623397	94623397	A	G	intronic	GPC6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	Omodysplasia|Pancreatic cancer 	ICGC,
chr13	68875243	68875243	G	T	intergenic	PCDH9,LINC00550	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chrX	53722568	53722579	CAAACACACACA	-	intergenic	HUWE1,PHF8	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	mortality/aging,-	Schizophrenia|Mental retardation, X-linked |Intellectual disability, X-linked|Intellectual disability, nonsyndromic|Intellectual disability, growth retardation, minimal speech, rigid gait & behavioural problems|Congenital heart disease |Autism,Autism|X-linked mental retardation & cleft lip/palate	ICGC,
chr5	151479483	151479483	G	A	ncRNA_intronic	CTB-12O2.1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr20	52447405	52447405	C	A	intergenic	ZNF217,SUMO1P1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7096938	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	COSMIC,ICGC,
chr1	241113452	241113452	G	A	intronic	RGS7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Intellectual disability  |Autism spectrum disorder  	ICGC,
chr13	19824421	19824421	C	T	intergenic	TUBA3C,ANKRD26P3	unknown	SNV	-	-	-	3.231e-05	-	-	-	-	-	COSN8543444	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	COSMIC,ICGC,
chr1	171213421	171213421	A	T	intergenic	FMO2,FMO1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-FR|1|72|0.01389	-	-	-,-	FMO2 variant,Reduced promoter activity|Nicotine dependence, association with |FMO1 variant	ICGC,
chr6	135403389	135403389	A	T	intergenic	HBS1L,MYB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	Severity in thalassaemia, association with|Null allele|Foetal haemoglobin expression,Reduced promoter activity|Reduced expression|Increased foetal haemoglobin levels |Autism	ICGC,
chr10	128275681	128275681	C	T	intergenic	C10orf90,DOCK1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,mortality/aging	-,Potential protein deficiency	ICGC,
chr11	56344279	56344279	C	T	exonic	OR5M10	nonsynonymous	SNV	0.728	0.0	-	-	-	-	-	-	-	COSM3869498	SKCM|2|368|0.00543	SKCM-US|1|335|0.00299	-	-	-	-	COSMIC,TCGA,ICGC,
chr11	2077324	2077324	A	C	intergenic	H19,IGF2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN514733	-	CLLE-ES|1|510|0.00196	-	-	mortality/aging,integument phenotype	Silver-Russell syndrome|Growth retardation  |Birthweight, association with |Beckwith-Wiedemann syndrome ,Hypertension, increased risk, association with|Intrauterine growth retardation and atypical diabetes|Invasive epithelial ovarian cancer, reduced risk|Reduced BMI, in adult males, association with	COSMIC,ICGC,
chr4	81196278	81196278	T	G	intronic	FGF5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	integument phenotype	-	ICGC,
chr10	116118530	116118530	C	T	intronic	AFAP1L2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23088892	-	MALY-DE|1|241|0.00415	-	-	-	-	COSMIC,ICGC,
chr8	91646786	91646786	C	A	intronic	TMEM64	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26186497	-	PRAD-UK|1|140|0.00714	-	-	-	-	COSMIC,ICGC,
chr13	83158689	83158689	T	C	intergenic	NONE,SLITRK1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,Trichotillomania|Tourette syndrome|Obsessive-compulsive disorder |Attention deficit hyperactivity disorder 	ICGC,
chr5	6421599	6421599	C	A	intergenic	MED10,UBE2QL1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22311678	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,Renal cell carcinoma	COSMIC,ICGC,
chr8	74499112	74499119	ACCACAAG	-	intronic	STAU2	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	PRAD-UK|1|140|0.00714	-	-	-	-	ICGC,
chr4	98177810	98177810	G	C	intergenic	PDHA2,STPG2-AS1	unknown	SNV	-	-	-	0.1313	rs567545628	-	0.170327	-	-	-	-	LAML-KR|1|205|0.00488,PBCA-US|3|186|0.01613	-	-	-,-	-,-	ICGC,
chr11	51593456	51593456	A	G	intergenic	OR4C46,NONE	unknown	SNV	-	-	-	0.0276	rs548713936	-	0.0617013	-	-	COSN24517828	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	COSMIC,ICGC,
chr20	62575734	62575734	G	A	intronic	UCKL1	unknown	SNV	-	-	5.281e-05	-	-	-	-	-	-	-	-	GACA-JP|1|585|0.00171	-	-	-	-	ICGC,
chr10	79048111	79048111	A	C	intronic	KCNMA1	unknown	SNV	-	-	-	0.2222	rs6480857	-	0.301518	-	0.239	-	-	ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488	-	-	mortality/aging	Hypertension, association with |Generalized epilepsy and paroxysmal dyskinesia|Autism	ICGC,
chr5	32561800	32561800	C	T	intergenic	ZFR,SUB1	unknown	SNV	-	-	-	0.5076	rs10941010	-	0.512181	-	0.413	-	-	ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488	-	-	mortality/aging,-	Spastic paraplegia 71|Schizophrenia,-	ICGC,
chr4	84608730	84608730	A	-	intergenic	AGPAT9,NKX6-1	unknown	deletion	-	-	-	0.0086	rs552449947	-	-	-	-	COSN27509980	-	BTCA-SG|6|71|0.08451	-	-	-,mortality/aging	-,-	COSMIC,COSMIC,ICGC,
chr8	40580979	40580979	T	C	intronic	ZMAT4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr10	53067873	53067873	G	A	intronic	PRKG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Thoracic aortic aneurysms and dissections	ICGC,
chr10	61674488	61674488	A	G	intergenic	CCDC6,C10orf40	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5879741	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr19	53802194	53802194	G	A	intergenic	BIRC8,ZNF845	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr19	2622801	2622801	T	C	intronic	GNG7	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23918183	-	LAML-KR|1|205|0.00488	-	-	mortality/aging	-	COSMIC,ICGC,
chr6	20874956	20874956	A	T	intronic	CDKAL1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19094982	-	CLLE-ES|1|510|0.00196	-	-	cellular phenotype	Hyperinsulism	COSMIC,ICGC,
chr12	114705844	114705844	A	C	intergenic	RBM19,TBX5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|3|301|0.00997	-	-	mortality/aging,mortality/aging	-,Atrial septal defects & postaxial hexodactyly|Congenital heart disease |Congenital heart disease.|Holt-Oram syndrome|Holt-Oram syndrome & ulnar-mammary syndrome	ICGC,
chr4	40263511	40263511	C	T	intergenic	RHOH,LOC101060498	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	hematopoietic system phenotype,-	RHOH deficiency,-	ICGC,
chr19	29136115	29136115	C	T	ncRNA_intronic	LOC100420587	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1764558	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr15	68693639	68693639	G	C	intronic	ITGA11	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22395212	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging	Lung cancer, susceptibility to, association with	COSMIC,ICGC,
chr5	161110417	161110417	C	A	intergenic	GABRB2,GABRA6	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25895517	-	EOPC-DE|1|202|0.00495	-	-	skeleton phenotype,behavior/neurological phenotype	-,Idiopathic epilepsy, generalised 	COSMIC,ICGC,
chrX	119222504	119222504	G	A	intergenic	RHOXF2B,RHOXF1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	ICGC,
chr9	112404967	112404967	G	A	intronic	PALM2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr11	110004229	110004229	-	A	intronic	ZC3H12C	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	-	ICGC,
chr9	7529677	7529677	G	A	intergenic	KDM4C,TMEM261	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype,-	Upper aerodigestive tract cancer, association with,-	ICGC,
chr11	119399616	119399616	A	G	intergenic	USP2-AS1,PVRL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Ectodermal dysplasia, cleft lip / palate|Cleft lip with or without cleft palate, nonsyndromic |Cleft lip / palate, association with|Cleft lip / palate	ICGC,
chr3	89834488	89834488	T	A	intergenic	EPHA3,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27977031	-	PRAD-CA|1|308|0.00325	-	-	mortality/aging,-	Oligozoospermia|Schizophrenia    |Sertoli-cell-only syndrome,-	COSMIC,ICGC,
chr5	154484506	154484506	G	T	intergenic	KIF4B,SGCD	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Muscular dystrophy, limb girdle 2F|Muscular dystrophy, limb girdle 2 |Muscular dystrophy, limb girdle|Cardiomyopathy, dilated|Anorectal malformation	ICGC,
chr12	29529784	29529784	G	A	intronic	ERGIC2	unknown	SNV	-	-	-	0.0002	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chrX	149518177	149518177	T	G	intergenic	MIR2114,MAMLD1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7514419	-	PACA-AU|1|391|0.00256	-	-	-,-	-,46,XY disorder of sex development |Hypospadias|Potential protein deficiency	COSMIC,ICGC,
chr1	40126233	40126233	G	A	intronic	NT5C1A	unknown	SNV	-	-	-	0.0007	rs151045501	-	0.000199681	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	-	ICGC,
chr1	110352195	110352195	G	A	intergenic	EPS8L3,CSF1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-,integument phenotype	Marie Unna hereditary hypotrichosis,Periodontitis, association with 	ICGC,
chr15	98527992	98527992	G	A	intergenic	ARRDC4,LOC101927332	unknown	SNV	-	-	-	0.0002	rs185916528	-	0.00139776	-	-	COSN7296718	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	COSMIC,ICGC,
chr4	69508481	69508481	C	T	intergenic	UGT2B17,UGT2B15	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Sertoli-cell-only syndrome, association with|Prostate cancer, in men, association with.|Prostate cancer, association with|Null allele|Increased testosterone concentrations|Increased expression|Increased bone mineral density, in postmenopausal women, association with|Graft-versus-host disease, association with|Fat mass, association with|Circulating steroid levels, association with|Ankylosing spondylitis, association with|Ankylosing spondylitis  |Altered exemestane metabolism,Reduced oxazepam clearance, association with|Prostate cancer, association with|Lower activity, association with|Increased gene expression|Fat mass, association with|Altered gene expression in liver	ICGC,
chr13	47027073	47027073	G	A	intergenic	KIAA0226L,LOC101929344	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr21	16895858	16895858	G	A	intergenic	NRIP1,USP25	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9150778	-	OV-AU|1|93|0.01075	-	-	reproductive system phenotype,hematopoietic system phenotype	Lung cancer, susceptibility to, association with,-	COSMIC,ICGC,
chr4	180897377	180897377	C	T	intergenic	LINC01098,LINC00290	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	3089692	3089692	C	T	intergenic	C5orf38,LINC01377	unknown	SNV	-	-	-	0.2037	rs10462762	-	0.202676	-	0.225	-	-	LAML-KR|2|205|0.00976	-	-	-,-	-,-	ICGC,
chr7	155420589	155420589	G	A	intergenic	CNPY1,RBM33	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	87656181	87656181	T	A	ncRNA_intronic	TMEM161B-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr11	26395470	26395470	G	A	intronic	ANO3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Craniocervical dystonia|Dystonia, primary torsion	ICGC,
chr14	40628982	40628982	A	G	intergenic	FBXO33,LOC644919	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr17	12309263	12309263	A	T	intergenic	MAP2K4,LINC00670	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25373992	-	MALY-DE|1|241|0.00415	-	-	mortality/aging,-	Acute myeloid leukaemia, reduced risk, association with|Cervical cancer, reduced risk, association with.|Colorectal cancer, reduced risk, association with|Prostate cancer, decreased risk,-	COSMIC,ICGC,
chr2	213504138	213504138	C	A	intergenic	ERBB4,MIR4776-2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Schizophrenia |Oligohydramnios|Intellectual disability, hyperactivity & speech developmental delay|Increased promoter activity|Hepatocellular carcinoma, increased risk, association with|Epileptic encephalopathy, early infantile 3|Breast and colorectal cancer, association with|Bipolar disorder, association with |Bipolar disorder |Autism spectrum disorder  |Amyotrophic lateral sclerosis type 19,-	ICGC,
chr5	67575322	67575322	-	T	intronic	PIK3R1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408,ORCA-IN|1|178|0.00562	-	-	mortality/aging	SHORT syndrome|Potential protein deficiency|Insulin resistance|Increased BMI, association with|Glucose disappearance and effectiveness, association with|Diabetes, type 2, association with|Colon cancer, increased risk, association with|B cell defects	ICGC,
chr13	31993490	31993490	A	G	intergenic	B3GALTL,RXFP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	EOPC-DE|1|202|0.00495	-	-	-,integument phenotype	Peters-Plus syndrome,Cryptorchidism 	ICGC,
chr1	206136232	206136232	C	T	intergenic	SLC26A9,FAM72C	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22357343	-	BRCA-EU|1|569|0.00176	-	-	digestive/alimentary phenotype,-	Bronchiectasis, diffuse ideopathic|Increased current and chloride ion transport|Reduced current and chloride ion transport|Reduced protein expression,-	COSMIC,ICGC,
chr14	63799245	63799245	C	T	intergenic	GPHB5,PPP2R5E	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	normal phenotype,-	-,-	ICGC,
chr2	22429501	22429501	C	T	intergenic	LOC645949,LOC102723362	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr10	21176457	21176457	C	T	intronic	NEBL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Cardiomyopathy, dilated|Cardiomyopathy, dilated & endocardial fibroelastosis	ICGC,
chr4	137913543	137913543	C	T	intergenic	LINC00613,PCDH18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Intellectual disability  	ICGC,
chr10	98881550	98881550	G	A	intronic	SLIT1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20409478	-	COCA-CN|1|321|0.00312	-	-	mortality/aging	-	COSMIC,ICGC,
chr3	1240130	1240130	G	A	intronic	CNTN6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	behavior/neurological phenotype	Intellectual disability  	ICGC,
chr20	57944850	57944850	G	A	intergenic	EDN3,PHACTR3	unknown	SNV	-	-	-	3.229e-05	rs150885349	-	0.000199681	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Waardenburg-Hirschsprung disease|Waardenburg syndrome 4B|Waardenburg syndrome 4|Shah-Waardenburg syndrome|Phenotype modification in HSCR|Hirschsprung disease|Deafness  |Central hypoventilation syndrome,-	ICGC,
chr1	33502372	33502372	G	A	exonic	AK2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSM6597329	-	-	-	-	-	Reticular dysgenesia	COSMIC,COSMIC,COSMIC,
chr4	116690206	116690206	T	C	intergenic	NDST4,MIR1973	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr6	154418261	154418261	C	A	intronic	OPRM1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	integument phenotype	Striatal dopamine response to alcohol|Post-operative pain response, association with|Pressure pain sensitivity in females, association with|Proinflammatory cytokine levels and health perception, association with|Reduced agonist potency|Reduced agonist potency, association with|Reduced expression|Reduced promoter activity|Smoking behaviour, increased susceptibility|Pain perception, association with|Increased promoter activity|Impaired receptor signalling|Addiction, association with|Altered beta-endorphin binding, association with|Altered reinforcement learning, association with|Altered trafficking and/or signalling|Decreased body mass index, association with|Decreased receptor expression|Drug intake, association with |Epilepsy|Epilepsy, association with 	ICGC,
chrX	51574786	51574786	C	T	intronic	MAGED1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	-	ICGC,
chr2	213444683	213444683	G	A	intergenic	ERBB4,MIR4776-2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype,-	Schizophrenia |Oligohydramnios|Intellectual disability, hyperactivity & speech developmental delay|Increased promoter activity|Hepatocellular carcinoma, increased risk, association with|Epileptic encephalopathy, early infantile 3|Breast and colorectal cancer, association with|Bipolar disorder, association with |Bipolar disorder |Autism spectrum disorder  |Amyotrophic lateral sclerosis type 19,-	ICGC,
chr15	31980567	31980567	G	A	intergenic	OTUD7A,CHRNA7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,P50 inhibitory defect, association with|P50 inhibitory defect, protection against, association with|Personality disorder |Reduced receptor activity|Schizophrenia|Seizures |Seizures, mental retardation, macrocytosis & retinal dysfunction|Speech & learning problems with autism|Mental retardation, seizures & dysmorphism|Encephalopathy with seizures & hypotonia|15q13.3 microdeletion syndrome|Attention deficit hyperactivity disorder & obsessive compulsive disorder|Autism|Autism spectrum disorder  |Congenital blindness & convulsive encephalopathy|Developmental delay  |Developmental delay, hypotonia, visual impairment & seizures|Developmental delay, mental retardation and seizures	ICGC,
chr2	193885356	193885356	C	T	intergenic	PCGEM1,LOC101927406	unknown	SNV	-	-	-	3.287e-05	-	-	-	-	-	COSN5786634	-	LINC-JP|1|394|0.00254	-	-	-,-	-,-	COSMIC,ICGC,
chr11	104394979	104394979	T	C	intergenic	PDGFD,LOC102723895	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1510750	-	LIRI-JP|1|258|0.00388	-	-	-,-	Intracerebral hemorrhage, association with,-	COSMIC,COSMIC,ICGC,
chr7	77266369	77266369	A	T	intronic	PTPN12	unknown	SNV	-	-	-	-	-	-	-	-	-	COSM6358466	-	PRAD-FR|1|25|0.04000	-	-	mortality/aging	-	COSMIC,ICGC,
chr3	119780940	119780940	T	A	intronic	GSK3B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9233585	-	OV-AU|1|93|0.01075	-	-	mortality/aging	Schizophrenia, association with  |Parkinson's disease, risk, association with|Multiple sclerosis, increased risk |Bipolar disorder, association with|Bipolar disorder, age of onset, association with|Alzheimer disease, association with	COSMIC,ICGC,
chr8	96565066	96565066	A	G	ncRNA_intronic	C8orf37-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-	-	ICGC,
chr13	19780237	19780237	T	C	intergenic	TUBA3C,ANKRD26P3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7394731	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	COSMIC,ICGC,
chr7	45120356	45120356	-	C	exonic	NACAD	frameshift	insertion	-	-	-	-	-	-	-	-	-	COSM5835407	BRCA|1|982|0.00102	-	-	-	-	-	COSMIC,TCGA,
chr16	34835097	34835097	G	A	intergenic	LOC100130700,FLJ26245	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	159621785	159621785	G	A	intronic	ETFDH	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Subacute myopathy |Potential protein deficiency|Lipid storage myopathy|Glutaricacidaemia 2c|Glutaricacidaemia 2 |Glutaric aciduria 2, adult onset|Glutaric aciduria 2 |Coenzyme Q10 deficiency|Acyl-CoA dehydrogenation deficiency	ICGC,
chr3	65866690	65866690	T	C	intronic	MAGI1	unknown	SNV	-	-	-	0.0258	rs79071465	-	0.0583067	-	0.043	COSN1957784	-	LAML-KR|1|205|0.00488,LIRI-JP|1|258|0.00388	-	-	-	Schizophrenia  |Bipolar affective disorder  	COSMIC,ICGC,
chr9	117710738	117710738	C	T	intergenic	TNFSF8,TNC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	immune system phenotype,behavior/neurological phenotype	Breast cancer, non-BRCA1/BRCA2 related|Lung cancer, lower risk, association with ,Lung cancer, susceptibility to, association with|Hearing loss, non-syndromic|Adult asthma, association with	ICGC,
chr3	93576709	93576709	C	T	intergenic	NONE,PROS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Thrombophilia  |Reduced plasma Protein S|Recurrent miscarriage |Protein S deficiency, type III|Protein S deficiency, type I/III|Protein S deficiency, type I|Protein S deficiency, association with|Protein S deficiency with thrombophilia|Deep vein thrombosis |Deep vein thrombosis, association with|Deep vein thrombosis, in pregnancy|Increased plasma Protein S|Protein S deficiency	ICGC,
chrX	20266917	20266917	A	G	intronic	RPS6KA3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	UTCA-FR|1|20|0.05000	-	-	integument phenotype	Mental retardation, non-specific|Intellectual disability, X-linked & Coffin-Lowry syndrome|Intellectual disability, X-linked|Coffin-Lowry syndrome|Autism	ICGC,
chr3	68363132	68363132	C	T	intronic	FAM19A1	unknown	SNV	-	-	-	0.0281	rs72626962	-	0.0333466	-	0.087	-	-	LAML-KR|1|205|0.00488	-	-	-	-	ICGC,
chr12	57103139	57103139	C	A	intergenic	PTGES3,NACA	unknown	SNV	-	-	-	0.0160	rs117938055	-	0.0269569	-	0.007	-	-	LAML-KR|1|205|0.00488	-	-	integument phenotype,mortality/aging	-,-	ICGC,
chr18	75572729	75572729	G	A	intergenic	GALR1,LINC01029	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	behavior/neurological phenotype,-	Growth hormone insufficiency,-	ICGC,
chr15	42370329	42370329	G	C	intronic	PLA2G4D	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-	-	ICGC,
chr1	181881683	181881683	G	A	intergenic	CACNA1E,ZNF648	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,-	Autism|Diabetes, type 2, association with,-	ICGC,
chr8	115172641	115172641	G	C	intergenic	CSMD3,TRPS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	Schizophrenia  |Colorectal cancer ,Tricho-rhino-phalangeal syndrome with supernumerary teeth|Tricho-rhino-phalangeal syndrome III|Tricho-rhino-phalangeal syndrome I|Tricho-rhino-phalangeal syndrome|Infantile scoliosis & developmental delay|Femoral neck width, association with|Ambras syndrome	ICGC,
chr4	75943441	75943441	C	A	intronic	PARM1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	Schizophrenia	ICGC,
chr13	35023465	35023465	G	A	ncRNA_intronic	LINC00457	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr17	52989897	52989897	T	G	intronic	TOM1L1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5418147	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr4	165510432	165510432	T	A	ncRNA_intronic	MIR5684	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr20	36189784	36189784	T	G	intergenic	BLCAP,LINC00489	unknown	SNV	-	-	-	0.0170	rs7265515	-	0.0427316	-	0.029	-	-	COCA-CN|1|321|0.00312	-	-	-,-	-,-	ICGC,
chr1	53155550	53155550	T	A	intronic	COA7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr9	46909166	46909166	G	T	intergenic	LINC01189,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr3	13836535	13836535	A	T	intergenic	LINC00620,WNT7A	unknown	SNV	-	-	-	0.2308	rs11719067	-	0.142173	-	0.217	-	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	-,AA/RRS & Fuhrmann syndrome|Al-Awadi-Raas-Rothschild syndrome|Congenital duplication of the palm syndrome|Fuhrmann syndrome|Ulnar and fibula absence, with severe limb deficiency	ICGC,
chr3	171414822	171414822	G	C	intronic	PLD1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21531721	-	BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr5	109552182	109552182	G	A	intergenic	LOC100289673,TMEM232	unknown	SNV	-	-	-	3.23e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr7	104470463	104470463	C	A	intronic	LHFPL3	unknown	SNV	-	-	-	6.736e-05	rs201895323	-	-	-	-	-	-	LAML-KR|1|205|0.00488	-	-	-	-	ICGC,
chr9	24662164	24662164	T	C	intergenic	IZUMO3,TUSC1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16946281	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr5	153947567	153947567	C	T	intergenic	HAND1,MIR3141	unknown	SNV	-	-	-	0.0003	rs111320539	-	-	-	-	COSN5071015	-	LINC-JP|1|394|0.00254	-	-	mortality/aging,-	Cardiac malformations|Heart hypoplasia |Ventricular septal defect,-	COSMIC,ICGC,
chrX	127837607	127837607	T	G	intergenic	ACTRT1,SMARCA1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,behavior/neurological phenotype	-,-	ICGC,
chr3	113005520	113005520	A	G	splicing	BOC	splicing	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	mortality/aging	-	ICGC,
chr6	25254163	25254163	G	A	ncRNA_intronic	LOC101928663	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr1	222329574	222329574	T	A	intergenic	DUSP10,HHIPL2	unknown	SNV	-	-	-	0.6721	rs17444771	-	0.724042	-	0.725	-	-	ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488	-	-	hematopoietic system phenotype,-	-,Potential protein deficiency	ICGC,
chr11	8688531	8688531	T	-	intergenic	TRIM66,RPL27A	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312,PACA-CA|1|268|0.00373	-	-	cellular phenotype,integument phenotype	-,-	ICGC,
chr16	33526062	33526062	T	C	ncRNA_intronic	RNU6-76P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr2	116712142	116712142	C	T	intergenic	DPP10,DDX18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Autism spectrum disorder,-	ICGC,
chr1	163468960	163468960	G	T	intergenic	LOC100422212,PBX1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,integument phenotype	-,Schizophrenia	ICGC,
chr15	68270464	68270464	A	G	intergenic	LOC101929076,PIAS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Autism	ICGC,
chr4	117221067	117221067	T	G	downstream	MIR1973	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-	-	ICGC,
chr5	123213441	123213441	T	C	intergenic	CSNK1G3,ZNF608	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	Potential protein deficiency,-	ICGC,
chr11	87201317	87201317	A	G	intergenic	TMEM135,RAB38	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	NKTL-SG|1|50|0.02000	-	-	-,integument phenotype	Intellectual disability  ,-	ICGC,
chr18	6570317	6570317	G	A	ncRNA_intronic	LINC01387	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr11	106929389	106929389	G	A	intergenic	GUCY1A2,CWF19L2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype,-	-,-	ICGC,
chrX	146550908	146550908	G	T	intergenic	MIR514A3,FMR1-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN28044629	-	PRAD-CA|1|308|0.00325	-	-	-,-	-,-	COSMIC,ICGC,
chr3	72107865	72107865	G	A	ncRNA_intronic	LINC00877	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chrX	51399877	51399877	C	G	intergenic	LOC102723426,CENPVP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	ICGC,
chr3	173287692	173287695	CATT	-	intronic	NLGN1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging	Microcephaly, seizure disorder & intellectual disability |Autism spectrum disorder  |Autism|Anorectal malformation	ICGC,
chr11	33668232	33668232	C	T	intronic	KIAA1549L	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	integument phenotype	-	ICGC,
chr2	210828399	210828399	A	C	intronic	UNC80	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	Autism 	ICGC,
chr1	36610690	36610690	T	G	intronic	TRAPPC3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr2	230960497	230960497	C	T	intergenic	SLC16A14,SP110	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,Tuberculosis, susceptibility to, association with|Tuberculosis, reduced susceptibility, association with|Pulmonary tuberculosis, association with|Hepatic veno-occlusive disease with immunodeficiency	ICGC,
chr16	34767900	34767900	T	C	intergenic	LOC100130700,FLJ26245	unknown	SNV	-	-	-	3.235e-05	-	-	-	-	-	COSN7256879	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	COSMIC,ICGC,
chr5	152753205	152753205	T	A	intergenic	LOC101927134,GRIA1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2077940	-	LIRI-JP|1|258|0.00388	-	-	-,integument phenotype	-,Intellectual disability  	COSMIC,ICGC,
chr18	63371782	63371782	G	A	intergenic	LOC284294,CDH7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	151527179	151527179	-	T	ncRNA_intronic	CTB-12O2.1	unknown	insertion	-	-	-	-	rs201913846	-	-	-	-	-	-	LMS-FR|7|67|0.10448	-	-	-	-	ICGC,
chr11	37019512	37019512	G	A	intergenic	C11orf74,LOC103312105	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	68482107	68482107	-	A	intergenic	CCNB1,CENPH	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|2|67|0.02985	-	-	mortality/aging,-	Coronary in-stent restenosis, increased risk,-	ICGC,
chr1	88182373	88182373	G	C	intergenic	LINC01364,PKN2-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	-,-	-,-	ICGC,
chr11	38189182	38189182	G	C	intergenic	C11orf74,LOC103312105	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8953639	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr11	114464502	114464502	C	T	intronic	NXPE4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr9	66459008	66459008	T	C	ncRNA_intronic	LINC01410	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LINC-JP|1|394|0.00254	-	-	-	-	ICGC,
chr1	30712302	30712302	C	T	intergenic	LOC101929406,MATN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,skeleton phenotype	-,-	ICGC,
chr7	27631708	27631708	C	A	intronic	HIBADH	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr6	104650036	104650036	G	T	intergenic	NONE,HACE1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5616808	-	LIRI-JP|1|258|0.00388	-	-	-,tumorigenesis	-,Wilms tumour 	COSMIC,ICGC,
chr12	17545287	17545287	G	T	intergenic	SKP1P2,MIR3974	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15206623	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr11	59135761	59135761	G	T	intergenic	OR5AN1,OR5A2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7015354	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	COSMIC,ICGC,
chr4	171335566	171335566	C	T	intergenic	AADAT,LOC100506122	unknown	SNV	-	-	-	0.0005	rs143997344	-	0.000399361	-	-	-	-	MELA-AU|1|183|0.00546	-	-	vision/eye phenotype,-	-,-	ICGC,
chr2	104938037	104938037	T	C	intergenic	TMEM182,LOC100287010	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5125176	-	BRCA-UK|1|141|0.00709,BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,COSMIC,ICGC,
chr3	153323953	153323953	C	T	intergenic	C3orf79,ARHGEF26-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr16	7090290	7090290	G	A	intronic	RBFOX1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Muscular and feet abnormalities|Mental retardation|Epilepsy, rolandic  |Epilepsy|Developmental delay, facial dysmorphism  |Developmental delay and transposition of the great arteries|Developmental delay and diplegia|Developmental delay and craniosynostosis|Developmental delay  |Cardiac defects|Cardiac abnormalities, micrognathia and scoliosis|Autism spectrum disorder|Autism|Attention deficit hyperactivity disorder 	ICGC,
chr3	72021017	72021017	T	G	intergenic	PROK2,LINC00877	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	nervous system phenotype,-	Anosmia, isolated congenital|GnRH deficiency |Hypogonadotropic hypogonadism|Kallmann syndrome,-	ICGC,
chr7	72164969	72164969	C	T	intronic	TYW1B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr11	65987139	65987139	G	A	intronic	PACS1	unknown	SNV	-	-	4.085e-06	-	-	-	-	-	-	COSN24386773	-	-	-	-	-	Intellectual disability  	COSMIC,
chr2	35670051	35670051	T	C	intergenic	MYADML,LOC100288911	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6179818	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr6	166231549	166231549	C	T	intergenic	PDE10A,LINC00473	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	behavior/neurological phenotype,-	-,-	ICGC,
chr7	46533737	46533737	-	AAG	intergenic	IGFBP3,TNS3	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	behavior/neurological phenotype,mortality/aging	Prostate cancer, increased risk|Plasma IGFBP-3 levels, association with|Pancreatic cancer, clinical outcome, association with|Lung cancer, increased risk, association with|Increased IGFBP-3 levels, association with|IGFBP-3 levels|Higher promoter activity, association with|Drug response, association with|Decreased IGFBP-3 levels, association with|Colorectal cancer, association with,Renal agenesis, pulmonary infections & growth/developmental delay	ICGC,
chr7	100626616	100626616	G	A	intronic	MUC12	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	-	ICGC,
chr11	99900627	99900627	T	C	intronic	CNTN5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN28065618	-	PRAD-CA|1|308|0.00325	-	-	behavior/neurological phenotype	-	COSMIC,ICGC,
chr6	130191074	130191074	C	T	intergenic	TMEM244,L3MBTL3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,-	ICGC,
chr7	8681764	8681764	A	C	intronic	NXPH1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	mortality/aging	Breast cancer, increased risk  	ICGC,
chr2	1398722	1398722	A	T	intergenic	SNTG2,TPO	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17830923	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	Autism spectrum disorder  |Schizophrenia  ,Total iodide organification defect|Thyroid peroxidase deficiency|Thyroid dyshormonogenesis|Partial iodide organification defect|Intellectual disability  |Hypothyroidism.|Hypothyroidism, association with |Hypothyroidism|Goitrous hypothyroidism.|Goitrous hypothyroidism|Goitre|Foetal hyperthyroidism	COSMIC,ICGC,
chr1	69635461	69635461	G	T	intergenic	DEPDC1-AS1,LRRC7	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17635464	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,-	COSMIC,ICGC,
chr2	158251952	158251952	T	G	intergenic	ERMN,CYTIP	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,hematopoietic system phenotype	-,-	ICGC,
chr15	42488335	42488335	G	A	intronic	VPS39	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7045209	-	PACA-AU|1|391|0.00256	-	-	-	Schizophrenia  	COSMIC,ICGC,
chr5	50823434	50823434	G	A	intergenic	ISL1,PELO	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,mortality/aging	Cardiomyopathy, dilated|Diabetes, type 2|Intellectual and developmental disabilities,-	ICGC,
chr4	177540623	177540623	G	A	intergenic	SPCS3,VEGFC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Lymphoedema, primary, Milroy-like	ICGC,
chr4	177355952	177355952	C	T	intergenic	SPCS3,VEGFC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Lymphoedema, primary, Milroy-like	ICGC,
chr16	69118362	69118362	-	T	UTR3	TANGO6	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN24127590	-	-	-	-	-	-	COSMIC,
chr7	87471673	87471673	-	T	intronic	SLC25A40	unknown	insertion	-	-	-	9.707e-05	rs577986039	-	0.00219649	-	-	-	-	ESAD-UK|1|301|0.00332,MELA-AU|1|183|0.00546	-	-	normal phenotype	Hypertriglyceridaemia	ICGC,
chr3	135078207	135078207	T	C	intergenic	EPHB1,PPP2R3A	unknown	SNV	-	-	-	3.231e-05	rs780438544	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	vision/eye phenotype,-	-,-	ICGC,
chr7	49431658	49431658	A	G	intergenic	CDC14C,VWC2	unknown	SNV	-	-	-	0.3591	rs10280861	-	0.354433	-	0.283	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr2	135474706	135474706	C	T	intronic	TMEM163	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr11	44343218	44343218	C	T	intergenic	ALX4,CD82	unknown	SNV	-	-	-	0.0002	-	-	-	-	-	COSN8446860	-	OV-AU|1|93|0.01075	-	-	integument phenotype,-	Skull defects, alopecia, hypertelorism & notched alae nasi|Nasal malformations & parietal foramina|Frontonasal dysplasia with intellectual disability, hypogonadism & partial alopecia|Frontonasal dysplasia 2|Frontonasal dysplasia|Frontofacial dysostosis syndrome|Foramina parietalia permagna|Craniosynostosis, nonsymdromic,-	COSMIC,ICGC,
chr13	28311733	28311733	A	G	intergenic	POLR1D,GSX1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6225468	-	LIRI-JP|1|258|0.00388	-	-	-,mortality/aging	Treacher-Collins syndrome,-	COSMIC,ICGC,
chr17	41219623	41219623	A	G	splicing	BRCA1	splicing	SNV	-	-	-	-	rs80358089	-	-	-	-	-	-	-	Hereditary_cancer-predisposing_syndrome|Hereditary_breast_and_ovarian_cancer_syndrome|Breast-ovarian_cancer,_familial_1	-	integument phenotype	Peritoneal carcinoma|Papillary thyroid carcinoma, increased risk|Papillary thyroid cancer, reduced risk|Pancreatic cancer   |Pancreatic adenocarcinoma|Ovarian carcinoma.|Ovarian carcinoma|Ovarian cancer, early-onset.|Ovarian cancer, association with|Ovarian cancer ?|Ovarian cancer|Ovarian / peritoneal carcinoma|Neuronal migration defect|Potential protein deficiency|Prolonged survival in advanced gastric cancer, association with|Prostate cancer|Uterine serous carcinoma.|Triple-negative breast cancer|Thyroid carcinoma, multifocal primary, reduced risk|Thyroid cancer, ovarian cancer, and thymic malignant melanoma ?|Serous tubal intraepithelial carcinoma.|Renal cell carcinoma.|Renal cell carcinoma in males|Reduced promoter activity|Reduced activity, association with|Reduced 3'UTR activity|Prostate cancer.|Prostate cancer, early-onset, association with.|Prostate cancer risk|Mean number of breaks per cell, association with|Altered promoter activity|Breast cancer, increased risk|Breast cancer, early-onset.|Breast cancer, early-onset|Breast cancer, descreased risk, association with|Breast cancer, bilateral basal-like|Breast cancer, association with|Breast cancer, association |Breast cancer & multiple sclerosis|Breast cancer|Breast and/or ovarian cancer.|Breast and/or ovarian cancer |Breast and colorectal cancer|Altered radiation exposure-response relationship|Breast cancer, protection against, association with |Breast cancer, susceptibility to |Low-grade adenosquamous carcinoma of the breast, association with|Li-Fraumeni-like syndrome|Glioblastoma multiforme, association with|Gastric cancer|Fallopian tube carcinoma|Fallopian tube / ovarian carcinoma|Endometriosis, association with |Endometrial cancer.|Breast cancer, triple-negative|Breast cancer.|Cervical cancer, decreased risk, association with|Colorectal cancer |Ductal carcinoma in situ|Endometrial cancer   	ClinVar,
chr12	28364962	28364962	A	C	intergenic	PTHLH,CCDC91	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	integument phenotype,-	Brachydactyly type E|Enchondromatosis  |Peak bone mass, association with ,-	ICGC,
chr1	89178957	89178957	C	T	intronic	PKN2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr1	234077700	234077700	G	T	intronic	SLC35F3	unknown	SNV	-	-	-	0.0035	rs368627300	-	-	-	-	COSN1099936	-	LINC-JP|1|394|0.00254	-	-	-	-	COSMIC,ICGC,
chr17	76618606	76618606	G	A	ncRNA_intronic	LOC101928710	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr17	41197687	41197687	G	T	UTR3	BRCA1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	integument phenotype	Peritoneal carcinoma|Papillary thyroid carcinoma, increased risk|Papillary thyroid cancer, reduced risk|Pancreatic cancer   |Pancreatic adenocarcinoma|Ovarian carcinoma.|Ovarian carcinoma|Ovarian cancer, early-onset.|Ovarian cancer, association with|Ovarian cancer ?|Ovarian cancer|Ovarian / peritoneal carcinoma|Neuronal migration defect|Potential protein deficiency|Prolonged survival in advanced gastric cancer, association with|Prostate cancer|Uterine serous carcinoma.|Triple-negative breast cancer|Thyroid carcinoma, multifocal primary, reduced risk|Thyroid cancer, ovarian cancer, and thymic malignant melanoma ?|Serous tubal intraepithelial carcinoma.|Renal cell carcinoma.|Renal cell carcinoma in males|Reduced promoter activity|Reduced activity, association with|Reduced 3'UTR activity|Prostate cancer.|Prostate cancer, early-onset, association with.|Prostate cancer risk|Mean number of breaks per cell, association with|Altered promoter activity|Breast cancer, increased risk|Breast cancer, early-onset.|Breast cancer, early-onset|Breast cancer, descreased risk, association with|Breast cancer, bilateral basal-like|Breast cancer, association with|Breast cancer, association |Breast cancer & multiple sclerosis|Breast cancer|Breast and/or ovarian cancer.|Breast and/or ovarian cancer |Breast and colorectal cancer|Altered radiation exposure-response relationship|Breast cancer, protection against, association with |Breast cancer, susceptibility to |Low-grade adenosquamous carcinoma of the breast, association with|Li-Fraumeni-like syndrome|Glioblastoma multiforme, association with|Gastric cancer|Fallopian tube carcinoma|Fallopian tube / ovarian carcinoma|Endometriosis, association with |Endometrial cancer.|Breast cancer, triple-negative|Breast cancer.|Cervical cancer, decreased risk, association with|Colorectal cancer |Ductal carcinoma in situ|Endometrial cancer   	ICGC,
chr2	210002768	210002768	G	A	intergenic	PTH2R,MAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	no phenotypic analysis,mortality/aging	Autism spectrum disorder,Autism spectrum disorder  	ICGC,
chr8	69918941	69918941	T	A	ncRNA_intronic	LOC100505718	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20478527	-	COCA-CN|1|321|0.00312	-	-	-	-	COSMIC,ICGC,
chrX	46014478	46014478	C	T	intergenic	MIR222,LINC01186	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr10	5188801	5188801	G	A	intergenic	AKR1C3,AKR1CL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype,-	Reduced enzyme activity with DOX/DAUN|Reduced enzyme activity with DAUN|Reduced enzyme activity|Polycystic ovary syndrome, association with|Lung cancer, increased risk, association with,-	ICGC,
chr7	97766719	97766719	G	A	exonic	LMTK2	nonsynonymous	SNV	0.132	0.437	-	-	-	-	-	-	-	COSM4628682	-	-	-	-	mortality/aging	-	COSMIC,COSMIC,
chrX	132113928	132113928	T	C	intergenic	HS6ST2,USP26	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5773506	-	LINC-JP|1|394|0.00254	-	-	cellular phenotype,-	-,Azoospermia / oligozoospermia|Infertility, idiopathic 	COSMIC,ICGC,
chr1	216690012	216690012	-	CACACACACACACACA	intronic	ESRRG	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	mortality/aging	Breast cancer, association with 	ICGC,
chr11	43104754	43104754	A	C	intergenic	LOC100507205,HNRNPKP3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr22	46012759	46012759	-	AACAA	intergenic	FBLN1,ATXN10	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	integument phenotype,-	Synpolydactyly|Syndactyly, undescended testes, delayed motor milestones & mental retardation|Fechtner syndrome,Nephronophthisis  |Spinocerebellar ataxia 10	ICGC,
chr1	211663723	211663723	G	T	intronic	RD3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	vision/eye phenotype	Retinitis pigmentosa, autosomal recessive/Leber congenital amaurosis|Retinitis pigmentosa, autosomal recessive|Retinitis pigmentosa|Retinal degeneration|Leber congenital amaurosis / retinal dystrophy, early-onset severe|Leber congenital amaurosis	ICGC,
chr7	49588293	49588293	-	CTA	intergenic	CDC14C,VWC2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr4	152558491	152558491	T	A	intronic	FAM160A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr22	22758829	22758829	A	G	intergenic	BMS1P20,ZNF280B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19007774	-	CLLE-ES|1|510|0.00196	-	-	-,-	-,-	COSMIC,ICGC,
chr12	73552529	73552529	A	T	upstream	LOC101928137	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr20	58042579	58042579	G	A	intergenic	EDN3,PHACTR3	unknown	SNV	-	-	-	3.232e-05	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	integument phenotype,-	Waardenburg-Hirschsprung disease|Waardenburg syndrome 4B|Waardenburg syndrome 4|Shah-Waardenburg syndrome|Phenotype modification in HSCR|Hirschsprung disease|Deafness  |Central hypoventilation syndrome,-	ICGC,
chr14	20279496	20279496	C	T	intronic	OR4N2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr2	230956267	230956267	A	G	intergenic	SLC16A14,SP110	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-,-	-,Tuberculosis, susceptibility to, association with|Tuberculosis, reduced susceptibility, association with|Pulmonary tuberculosis, association with|Hepatic veno-occlusive disease with immunodeficiency	ICGC,
chr1	115826610	115826610	G	A	intergenic	TSPAN2,NGF	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Sensory and autonomic neuropathy  |Phenotype study|Loss of pain perception|Anxiety-related traits, gender-dependent, association with|Alzheimer disease, late-onset, and mild cognitive impairment, association with.	ICGC,
chr8	130452824	130452824	A	G	intergenic	LINC00977,GSDMC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr8	42464332	42464332	C	G	intergenic	SMIM19,CHRNB3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21589799	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	-,behavior/neurological phenotype	-,Schizophrenia and epilepsy|Potential protein deficiency|Autism spectrum disorder|Alcohol and cocaine dependence, association with	COSMIC,COSMIC,ICGC,
chr9	35020791	35020791	G	A	intergenic	DNAJB5,C9orf131	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr12	101233879	101233879	G	A	intronic	ANO4	unknown	SNV	-	-	-	3.339e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr1	193407601	193407601	A	C	intergenic	CDC73,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Potential protein deficiency|Parathyroid carcinoma/adenoma|Parathyroid carcinoma.|Parathyroid carcinoma|Parathyroid cancer|Parathyroid adenoma.|Parathyroid adenoma |Hyperparathyroidism, primary.|Hyperparathyroidism, primary|Hyperparathyroidism, isolated|Hyperparathyroidism-jaw tumour syndrome.|Hyperparathyroidism-jaw tumour syndrome,-	ICGC,
chrX	46433874	46433874	C	T	exonic	CHST7	synonymous	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr2	195147444	195147444	G	A	intergenic	PCGEM1,LOC101927406	unknown	SNV	-	-	-	-	rs569789869	-	0.000199681	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	122036904	122036904	G	A	intergenic	CASR,CSTA	unknown	SNV	-	-	-	0.0346	rs76249487	-	0.107029	-	0.065	COSN8869435	-	-	-	-	integument phenotype,-	Hypocalcaemia with hypercalciuria|Hypoparathyroidism|Hypoparathyroidism, autosomal dominant|Increased blood ionised calcium level|Increased serum ionized calcium, association with|Lower iCa levels, association with|Lower serum PTH levels and higher urinary calcium excretion, assoc. with|Neonatal hyperparathyroidism|Nephrolithiasis, association with|Pancreatitis  |Primary hyperparathyroidism with familial hypocalciuric hypercalcaemia.|Recurrent calcium kidney stone disease, association with|Serum calcium levels, association with|Tropical chronic pancreatitis|Hypocalcaemia|Hypertriglyceridaemia, increased risk|Hyperparathyroidism, neonatal primary|Chronic pancreatitis, association with|Colorectal adenoma, risk, association with|Epilepsy, idiopathic generalised |Higher iCa levels, association with|Higher total and ionised calcium concentrations, association|Hypercalcaemia  |Hypercalcaemia and hypercalciuria|Hypercalcaemia, association with|Hyperparathyroidism|Hypercalciuria, hypocalcaemic|Hypercalcaemia, hypocalciuric & hypoparathyroidism|Hypercalcaemia, hypocalciuric & hyperparathyroidism.|Hypercalcaemia, hypocalciuric & hyperparathyroidism|Hypercalcaemia, hypocalciuric ,Psoriasis, association with|Exfoliative ichthyosis|Atopic dermatitis, reduced risk, association with|Acral peeling skin syndrome	COSMIC,
chr12	106622559	106622559	C	T	intergenic	NUAK1,CKAP4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	mortality/aging,-	Autism ,-	ICGC,
chr3	51164383	51164383	G	A	intronic	DOCK3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	OV-AU|1|93|0.01075	-	-	immune system phenotype	Attention deficit hyperactivity disorder	ICGC,
chr16	24268126	24268126	C	T	exonic	CACNG3	synonymous	SNV	-	-	4.061e-06	-	-	-	-	-	-	COSM1301753	BLCA|1|396|0.00253	SKCA-BR|1|100|0.01000,BLCA-US|1|133|0.00752	-	-	mortality/aging	-	COSMIC,TCGA,ICGC,
chr11	67845915	67845915	A	-	intronic	CHKA	unknown	deletion	-	-	-	-	rs35053057	-	-	-	-	-	-	COCA-CN|1|321|0.00312,ESAD-UK|1|301|0.00332	-	-	mortality/aging	-	ICGC,
chr5	134910302	134910302	G	A	exonic	CXCL14	nonsynonymous	SNV	0.002	0.999	-	-	-	-	-	-	-	COSM204475	COAD|1|367|0.00272,COADREAD|1|489|0.00204	OV-AU|1|93|0.01075	-	-	mortality/aging	-	COSMIC,TCGA,ICGC,
chrX	69744609	69744609	T	G	intergenic	DLG3,TEX11	unknown	SNV	-	-	-	-	rs766949528	-	0.000529801	-	-	-	-	RECA-EU|1|422|0.00237,MALY-DE|1|241|0.00415	-	-	mortality/aging,reproductive system phenotype	Potential protein deficiency|Mental retardation|Intellectual disability, X-linked|Intellectual disability, autism & large head circumference|Intellectual disability & epilepsy  ,-	ICGC,
chr7	79254807	79254807	T	C	intergenic	MAGI2-AS3,MIR548M	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20326638	-	PAEN-AU|1|52|0.01923	-	-	-,-	-,-	COSMIC,ICGC,
chr17	51614914	51614914	C	T	intergenic	C17orf112,KIF2B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	143378415	143378415	A	C	intronic	INPP4B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	hematopoietic system phenotype	-	ICGC,
chr1	118532441	118532441	G	A	intronic	SPAG17	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	Autism	ICGC,
chrX	20755167	20755167	A	G	intergenic	RPS6KA3,CNKSR2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	integument phenotype,-	Mental retardation, non-specific|Intellectual disability, X-linked & Coffin-Lowry syndrome|Intellectual disability, X-linked|Coffin-Lowry syndrome|Autism,Intellectual disability, X-linked non-syndromic	ICGC,
chr9	82356803	82356803	G	A	intergenic	TLE4,LOC101927477	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	6224798	6224798	C	T	intergenic	ICE1,FLJ33360	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr5	56828550	56828550	G	T	intergenic	ACTBL2,LINCR-0003	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	36907349	36907349	T	C	intergenic	DTHD1,MIR4801	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	Leber congenital amaurosis with myopathy,-	ICGC,
chr7	45428317	45428317	A	G	intergenic	RAMP3,ADCY1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9990267	-	OV-AU|1|93|0.01075	-	-	growth/size phenotype,integument phenotype	-,-	COSMIC,ICGC,
chr12	79221523	79221523	G	C	intergenic	NAV3,SYT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,mortality/aging	-,-	ICGC,
chr10	76859217	76859217	G	A	UTR5	DUSP13	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	-	-	ICGC,
chr4	44831919	44831919	T	G	intergenic	GNPDA2,GABRG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr3	192041542	192041542	C	T	intronic	FGF12	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	-	ICGC,
chr2	182228989	182228989	C	T	intergenic	MIR4437,ITGA4	unknown	SNV	-	-	-	6.468e-05	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,Increased peripheral blood monocyte counts, association with	ICGC,
chr13	63080906	63080906	G	A	intergenic	LINC00358,LINC00448	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr11	105317855	105317855	T	G	intergenic	CARD18,GRIA4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813,MALY-DE|1|241|0.00415	-	-	-,integument phenotype	-,-	ICGC,
chr12	83680376	83680376	G	A	intergenic	TMTC2,SLC6A15	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,reproductive system phenotype	-,Increased maximal 3H proline uptake	ICGC,
chr16	33900459	33900459	C	G	intergenic	RNU6-76P,LINC00273	unknown	SNV	-	-	-	7.146e-05	rs777917739	-	-	-	-	COSN7305834	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	COSMIC,ICGC,
chr2	239128403	239128403	G	A	intergenic	ILKAP,LOC151174	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8345086	-	PRAD-UK|1|140|0.00714	-	-	behavior/neurological phenotype,-	-,-	COSMIC,ICGC,
chr5	157146998	157146998	C	G	intergenic	C5orf52,THG1L	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	ICGC,
chr3	165754858	165754858	A	C	intergenic	BCHE,ZBBX	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	Serum cholinesterase deficiency|Potential protein deficiency|Obesity and triglyceride levels, association with|Hypocholinesterasaemia|Fronto-temporal dementia, association with|Cholinesterasaemia|Butyrylcholinesterase variant|Butyrylcholinesterase deficiency|Addiction to crack cocaine, association with|Acholinesterasaemia,-	ICGC,
chr5	82782939	82782939	A	G	intronic	VCAN	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16195582	-	PRAD-CA|1|308|0.00325	-	-	mortality/aging	Gastric cancer, association with  |Retinitis pigmentosa|Tetralogy of Fallot|Wagner syndrome	COSMIC,ICGC,
chr22	21665002	21665002	C	A	intergenic	POM121L8P,RIMBP3C	unknown	SNV	-	-	-	0.0778	rs9609086	-	-	-	-	-	-	LAML-KR|1|205|0.00488	-	-	-,-	-,-	ICGC,
chr17	52784286	52784286	G	A	intergenic	KIF2B,TOM1L1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6658223	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	COSMIC,ICGC,
chr7	136635052	136635052	G	C	ncRNA_intronic	LOC349160	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-	-	ICGC,
chr10	79627605	79627605	A	G	intronic	DLG5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	behavior/neurological phenotype	Crohn's disease, protection against in females, association with |Inflammatory bowel disease, risk, association with	ICGC,
chr11	17156477	17156477	G	T	exonic	PIK3C2A	nonsynonymous	SNV	0.12	0.102	-	-	-	-	-	-	-	COSM925446	UCEC|1|248|0.00403	UCEC-US|1|250|0.00400	-	-	mortality/aging	-	COSMIC,TCGA,ICGC,
chr11	48495965	48495965	T	A	intergenic	OR4C45,OR4A47	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr7	128489504	128489504	G	A	exonic	FLNC	nonsynonymous	SNV	0.063	1.0	4.467e-05	0.0002	rs777061037	2.486e-05	-	-	-	COSM6665082	-	-	-	-	integument phenotype	Arrhythmia & myofibrillar myopathy, late-onset|Distal myopathy|Muscular dystrophy, limb-girdle|Myopathy, myofibrillar	COSMIC,
chr13	94928769	94928769	GT	AC	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr5	111243157	111243157	C	T	intronic	NREP	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	behavior/neurological phenotype	-	ICGC,
chr1	28145610	28145610	G	A	intronic	STX12	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19286680	-	CLLE-ES|1|510|0.00196	-	-	-	-	COSMIC,ICGC,
chr1	226123014	226123014	A	T	intergenic	PYCR2,LEFTY2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,mortality/aging	-,Left-right axis malformation	ICGC,
chr13	89783261	89783261	A	C	intergenic	LINC00433,LINC00353	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25415397	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	COSMIC,ICGC,
chrX	26800421	26800421	C	T	intergenic	VENTXP1,SMEK3P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr7	83013537	83013537	G	A	intronic	SEMA3E	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|3|183|0.01639	-	-	vision/eye phenotype	CHARGE syndrome|Tetralogy of Fallot	ICGC,
chr4	46501273	46501273	A	T	intergenic	GABRA2,COX7B2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	-,-	ICGC,
chr18	54591317	54591317	G	A	exonic	WDR7	nonsynonymous	SNV	0.014	0.999	8.181e-06	-	rs761722912	1.647e-05	-	-	-	-	SKCM|1|368|0.00272	-	-	-	-	-	TCGA,
chr4	71411821	71411821	C	G	intergenic	AMTN,AMBN	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,skeleton phenotype	-,-	ICGC,
chr10	49784382	49784382	C	T	intronic	ARHGAP22	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-	-	ICGC,
chr1	229631319	229631319	G	A	intronic	NUP133	unknown	SNV	-	-	-	-	-	-	-	-	-	COSM5786658	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging	-	COSMIC,ICGC,
chr2	52640644	52640644	G	A	intergenic	NRXN1,ASB3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5793375	-	LINC-JP|1|394|0.00254	-	-	mortality/aging,-	Hypotonia|Hypotonia & encephalopathy|Increased white matter volume, association with|Intellectual disability  |Intellectual disability & attention deficit hyperactivity disorder|Intellectual disability & hearing loss|Intellectual disability & pervasive developmental disorder|Intellectual disability and autism|Intellectual disability, nonsyndromic |Intellectual disability, seizures, dysmorphisms & language delay|Growth retardation  |Epilepsy, myoclonic seizures & speech delay|Developmental disorder|Developmental disorder & attention deficit hyperactivity disorder|Developmental disorder, seizures & attention deficit hyperactivity disorder|Developmental/intellectual disability, hypotonia & dysmorphic features|Disorder of muscle, ligament & fascia|Encephalopathy  |Epilepsy  |Epilepsy with cognitive impairment / autism spectrum disorder|Epilepsy with focal seizures|Epilepsy, generalised |Intellectual disability, seizures, language delay & hypotonia|Language delay|Learning difficulties|Respiratory distress & sepsis|Respiratory distress syndrome|Schizophrenia |Schizophrenia, childhood onset |Schizophrenia, disorganised type|Seizures, generalized tonic-clonic & attention deficit hyperactivity disorder|Sensory integration disorder & attention deficit hyperactivity disorder|Speech delay & social communication difficulties|Tourette syndrome|Pervasive developmental disorder / hypotonia|Pervasive developmental disorder|Pervasive developmental delay / mental retardation, lack of coordination & hearing loss|Learning difficulties, ADHD & autism|Mental retardation|Mental retardation, autism, vertebral malformations|Mental retardation, Pitt-Hopkins-like|Microcephaly & mental retardation|Multiple congenital anomalies  |Multiple disabilities|Myoclonic epilepsy   |Neurodevelopmental disorder  |Vertebral anomalies|Developmental delay, speech delay & social communication difficulties|Attention deficit hyperactivity disorder |Autism spectrum disorder, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability & language delay|Autism spectrum disorder, intellectual disability, dysmorphisms, developmental delay & language delay|Autism spectrum disorder, intellectual disability, seizures & developmental delay|Autism spectrum disorder, intellectual disability, seizures, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability, seizures, dysmorphisms & language delay|Autism spectrum disorder, seizures, developmental delay & language delay|Autism, intellectual disability & attention deficit hyperactivity disorder|Autistic disorder|Autism spectrum disorder with developmental & speech delay|Autism spectrum disorder & seizures|Autism spectrum disorder & language delay|Autism |Autism & learning difficulties|Autism & mental retardation|Autism & seizures|Autism spectrum disorder|Autism spectrum disorder & attention deficit hyperactivity disorder|Autism spectrum disorder & developmental delay|Autism spectrum disorder & dysmorphic features|Autism spectrum disorder & intellectual disability|Behavioural problems|Congenital heart defect  |Craniofacial dysmorphism|Developmental delay & speech/motor delay|Developmental delay with early-onset epilepsy|Developmental delay, dysmorphic features & short stature|Developmental delay, epilepsy, autism|Developmental delay, language delay & hypotonia|Developmental delay, learning difficulties, ADHD|Developmental delay, microcephaly & behavioural problems|Developmental delay, pulmonic stenosis & autism spectrum disorder|Developmental delay, short stature and diaphragmatic hernia|Developmental delay, speech delay & microcephaly|Developmental delay & seizures|Developmental delay & seizure disorder|Cystic hygroma, hydrops & micrognathia|Cystic hygroma, shortened upper limbs & fetal demise|Developmental & speech delay|Developmental delay|Developmental delay / autism|Developmental delay & autism|Developmental delay & dysmorphic features|Developmental delay & epilepsy|Developmental delay & hypotonia|Developmental delay & multiple congenital anomalies,-	COSMIC,ICGC,
chr1	73961694	73961694	-	T	intergenic	LINC01360,LRRIQ3	unknown	insertion	-	-	-	0.0003	-	-	-	-	-	-	-	PRAD-UK|1|140|0.00714,MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr4	97435200	97435200	A	C	intergenic	PDHA2,STPG2-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23839195	-	ORCA-IN|2|178|0.01124	-	-	-,-	-,-	COSMIC,COSMIC,ICGC,
chr1	39979240	39979240	A	G	intronic	BMP8A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	reproductive system phenotype	-	ICGC,
chr2	6492530	6492530	G	A	intergenic	LOC400940,LINC01247	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,-	-,-	ICGC,
chr4	44725712	44725712	T	C	intronic	GNPDA2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27086554	-	ESAD-UK|1|301|0.00332	-	-	-	-	COSMIC,ICGC,
chr2	4446007	4446007	G	A	intergenic	LINC01304,LINC01249	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	38485396	38485396	A	C	intergenic	XYLB,ACVR2B-AS1	unknown	SNV	-	-	-	0.0571	rs12637760	-	0.0932508	-	0.072	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype,-	-,-	ICGC,
chr5	168849893	168849893	C	T	intergenic	SLIT3,SPDL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	mortality/aging,-	Schizophrenia  |Major depressive disorder |Autism spectrum disorder,-	ICGC,
chr4	108322630	108322630	A	C	intergenic	DKK2,PAPSS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	hematopoietic system phenotype,-	Schizophrenia, association with  ,-	ICGC,
chr5	24236052	24236052	G	T	intergenic	PRDM9,CDH10	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN4847836	-	MALY-DE|1|241|0.00415	-	-	reproductive system phenotype,-	Altered meiotic recombination hotspot usage|Azoospermia by meiotic arrest, association with |Azoospermia, non-obstructive ,-	COSMIC,ICGC,
chr10	101002952	101002952	-	A	intergenic	HPSE2,CNNM1	unknown	insertion	-	-	-	3.272e-05	-	-	-	-	-	-	-	PRAD-UK|1|140|0.00714	-	-	-,-	Urofacial syndrome,-	ICGC,
chrX	152758186	152758186	C	A	intergenic	HAUS7,BGN	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27484960	-	BTCA-SG|1|71|0.01408	-	-	-,integument phenotype	-,Reduced transcriptional activity	COSMIC,ICGC,
chr8	69259968	69259968	C	T	intronic	C8orf34	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-	-	ICGC,
chr19	29316340	29316347	ATACACAC	-	intergenic	LOC100420587,LINC00906	unknown	deletion	-	-	-	0.4067	rs71169793	-	-	-	-	-	-	LMS-FR|7|67|0.10448	-	-	-,-	-,-	ICGC,
chr1	107451067	107451067	C	T	intergenic	NONE,PRMT6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-,-	-,-	ICGC,
chr5	170763136	170763136	G	A	intergenic	TLX3,MIR3912	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype,-	-,-	ICGC,
chr11	21393407	21393407	C	T	intronic	NELL1	unknown	SNV	-	-	-	6.487e-05	rs530884752	-	0.000199681	-	0.007	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging	Crohn disease, association with	ICGC,
chr4	4509222	4509222	G	A	intronic	STX18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr1	88366241	88366241	G	A	intergenic	LINC01364,PKN2-AS1	unknown	SNV	-	-	-	3.234e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr6	153395621	153395621	T	C	intronic	RGS17	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr5	26548960	26548960	A	G	intergenic	LOC340107,CDH9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BOCA-FR|1|98|0.01020	-	-	-,-	-,-	ICGC,
chr11	130835555	130835555	C	T	intergenic	SNX19,NTM	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Autism spectrum disorder|Coronary heart disease, association with,Aortic aneurysm, thoracic & intracranial|Potential protein deficiency	ICGC,
chr10	38937213	38937213	C	T	intergenic	LINC00999,ACTR3BP5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BOCA-UK|1|130|0.00769,MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chrX	126742990	126742990	T	G	intergenic	PRR32,ACTRT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr5	38081591	38081591	G	A	intergenic	GDNF-AS1,EGFLAM	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7940622	-	PACA-AU|1|391|0.00256	-	-	-,vision/eye phenotype	-,-	COSMIC,ICGC,
chr6	101667641	101667641	A	G	intergenic	ASCC3,GRIK2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	other phenotype,behavior/neurological phenotype	Colorectal cancer, increased risk, association with|Intellectual disability  ,Mental retardation, non-syndromic, autosomal recessive	ICGC,
chr7	40793301	40793301	C	A	intronic	SUGCT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-	-	ICGC,
chr5	58228867	58228867	C	T	intergenic	RAB3C,PDE4D	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,mortality/aging	-,Psychomotor retardation, coarse facies & ocular anomalies|Intellectual disability syndrome with low body mass index & facial features|Acrodysostosis	ICGC,
chr12	113618677	113618677	C	T	intronic	DDX54	unknown	SNV	-	-	-	0.0013	rs182605238	-	0.00139776	-	-	-	-	ESAD-UK|1|301|0.00332,GACA-JP|1|585|0.00171	-	-	-	-	ICGC,
chr13	35188962	35188962	G	A	ncRNA_intronic	LINC00457	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr17	25307353	25307353	A	G	intergenic	NONE,MIR4522	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19354578	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	COSMIC,ICGC,
chr12	17993887	17993887	C	T	intergenic	MIR3974,RERGL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Colorectal cancer 	ICGC,
chr4	181995365	181995365	T	C	ncRNA_intronic	LINC00290	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chrX	139551067	139551067	G	A	intergenic	LOC389895,SOX3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,XX male sex reversal with growth retardation & microcephaly|XX male sex reversal with genital abnormalities|XX male sex reversal|Potential protein deficiency|Pituitary hormone deficiency, combined|Mental retardation with growth hormone deficiency|Hypopituitarism|Hypoparathyroidism|Hypertrichosis, congenital generalised |Hyperphagia & developmental delay	ICGC,
chr10	54269230	54269230	GG	AT	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr7	100717270	100717270	G	A	intergenic	MUC17,TRIM56	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Potential protein deficiency|Schizophrenia,-	ICGC,
chr6	129889794	129889794	A	G	intergenic	LAMA2,ARHGAP18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	mortality/aging,mortality/aging	Muscular dystrophy, merosin deficient|Myopathy with sarcotubular proliferation|Schizophrenia  |Tuberculoid leprosy, association with |Muscular dystrophy, limb girdle|Muscular dystrophy, congenital 1A.|Muscular dystrophy, congenital 1A, atypical|Muscular dystrophy, congenital 1A|Laminin alpha 2 chain deficiency, partial|Cardiomyopathy, dilated, type 1A,-	ICGC,
chr11	1579546	1579546	G	A	intronic	DUSP8	unknown	SNV	-	-	2.478e-05	-	-	-	-	-	-	-	-	LUSC-KR|2|170|0.01176	-	-	-	-	ICGC,
chr5	9358650	9358650	G	T	intronic	SEMA5A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	mortality/aging	Double outlet right ventricle	ICGC,
chr17	75134162	75134162	-	C	intronic	SEC14L1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr3	118562949	118562949	T	C	intergenic	LINC00901,IGSF11	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6747043	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr7	18734261	18734261	C	T	intronic	HDAC9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	mortality/aging	Peters' anomaly |Immunodeficiency, common variable, association with  	ICGC,
chr3	159381789	159381789	A	T	intronic	IQCJ-SCHIP1,SCHIP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,mortality/aging	-,-	ICGC,
chr1	171214409	171214409	C	A	intergenic	FMO2,FMO1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22982665	-	PAEN-IT|1|37|0.02703	-	-	-,-	FMO2 variant,Reduced promoter activity|Nicotine dependence, association with |FMO1 variant	COSMIC,ICGC,
chr20	44813366	44813366	T	A	intronic	CDH22	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9130430	-	OV-AU|1|93|0.01075	-	-	no phenotypic analysis	-	COSMIC,ICGC,
chr5	20483283	20483283	A	T	intronic	CDH18	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9425097	-	OV-AU|1|93|0.01075	-	-	-	Anorectal malformation	COSMIC,ICGC,
chr11	88202055	88202055	C	T	intergenic	CTSC,GRM5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,integument phenotype	Periodontitis, juvenile|Periodontitis, aggressive, association with|Papillon-Lefevre syndrome|Haim-Munk syndrome|Haim Munk syndrome,Attention deficit hyperactivity disorder|Schizophrenia   	ICGC,
chr8	2203886	2203886	G	T	intergenic	MYOM2,CSMD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	-,Schizophrenia, association with |Hyperinsulinism|Autism|Attention deficit hyperactivity disorder 	ICGC,
chr6	79123150	79123152	AAT	-	intergenic	MEI4,IRAK1BP1	unknown	deletion	-	-	-	0.0123	-	-	-	-	-	-	-	SKCA-BR|3|100|0.03000	-	-	-,no phenotypic analysis	-,-	ICGC,
chr2	78311516	78311516	G	A	ncRNA_intronic	LOC101927967	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ORCA-IN|1|178|0.00562	-	-	-	-	ICGC,
chr14	29075569	29075569	C	T	intergenic	LINC00645,FOXG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,integument phenotype	-,West syndrome |Rett-like syndrome|Rett syndrome|Refractory epilepsy & intellectual impairment|Microcephaly, mental retardation & thin genu of corpus callosum|Mental retardation, speech impairment & epilepsy|Mental retardation & speech impairment|Mental retardation & postnatal microcephaly|Mental retardation & callosum abnormalities|Mental retardation|Infantile spasms|Hemifacial microsomia|Generalized dystonia, athetosis and parkinsonism|Developmental delay, microcephaly & hypoplasia of the corpus callosum|Developmental delay, hypotonia, microcephaly & infantile spasms|Developmental delay & slow head growth|Agenesis of corpus callosum	ICGC,
chr8	60917681	60917681	G	A	intergenic	TOX,CA8	unknown	SNV	-	-	-	3.23e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype,behavior/neurological phenotype	Pulmonary tuberculosis, association  with,Ataxia, cerebellar hypoplasia|Cerebellar ataxia and quadrupedal locomotion|Cerebellar ataxia, mental retardation & dysequilibrium syndrome 3	ICGC,
chr5	151775757	151775757	-	AC	intronic	NMUR2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|2|71|0.02817	-	-	integument phenotype	-	ICGC,
chr12	33927197	33927197	G	A	intergenic	SYT10,ALG10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,-	-,-	ICGC,
chr5	178588068	178588068	G	A	intronic	ADAMTS2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20264749	-	PACA-CA|1|268|0.00373	-	-	integument phenotype	Ehlers-Danlos syndrome VIIc	COSMIC,ICGC,
chr3	191411875	191411875	G	A	intergenic	LINCR-0002,FGF12	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1938361	-	LIRI-JP|1|258|0.00388	-	-	-,behavior/neurological phenotype	-,-	COSMIC,ICGC,
chr19	28385523	28385523	C	T	intergenic	LOC101927151,LOC100420587	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr10	113981147	113981147	A	G	intergenic	GPAM,TECTB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	growth/size phenotype,hearing/vestibular/ear phenotype	Complex I deficiency|Lung cancer, susceptibility to, association with,-	ICGC,
chrX	14552824	14552824	G	T	intronic	GLRA2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19573641	-	-	-	-	mortality/aging	-	COSMIC,
chr18	22258998	22258998	-	GCAC	intergenic	LOC729950,ZNF521	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,skeleton phenotype	-,-	ICGC,
chr1	88551316	88551316	G	A	intergenic	LINC01364,PKN2-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr9	127888667	127888670	TGGG	-	intronic	SCAI	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	-	ICGC,
chr14	93840574	93840574	G	A	intronic	UNC79	unknown	SNV	-	-	-	0.0031	rs187656211	-	0.00299521	-	-	COSN16681976	-	PACA-CA|1|268|0.00373	-	-	mortality/aging	-	COSMIC,ICGC,
chr10	16878178	16878178	G	A	intronic	CUBN	unknown	SNV	-	-	-	6.46e-05	rs537577893	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging	Pulmonary atresia  |Proteinuria  |Potential protein deficiency|Megaloblastic anaemia|Imerslund-Gräsbeck syndrome|High HDL cholesterol|Albuminuria, association with	ICGC,
chr20	31728179	31728179	T	C	intergenic	BPIFB4,BPIFA2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2488625	-	-	-	-	-,-	-,-	COSMIC,
chr1	97728266	97728266	T	A	ncRNA_intronic	DPYD-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr2	133642582	133642582	A	C	ncRNA_intronic	MIR7853	unknown	SNV	-	-	-	-	rs552070246	-	0.000199681	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr1	167990117	167990117	C	G	intronic	DCAF6	unknown	SNV	-	-	-	0.1389	rs3767466	-	0.132987	-	0.072	-	-	LAML-KR|1|205|0.00488	-	-	-	-	ICGC,
chr3	158421164	158421164	G	A	intronic	RARRES1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	EOPC-DE|1|202|0.00495	-	-	-	-	ICGC,
chr1	120166681	120166681	G	A	exonic	ZNF697	synonymous	SNV	-	-	0.5654	0.6000	rs12067843	0.5715	0.672324	0.5780	0.630	COSM3750291	-	COCA-CN|5|321|0.01558,COAD-US|1|254|0.00394	-	-	-	-	COSMIC,COSMIC,ICGC,
chr14	85002359	85002359	A	G	intergenic	NONE,LINC00911	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr22	45023044	45023044	G	A	intergenic	LINC00229,PRR5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr14	84839739	84839739	G	A	intergenic	NONE,LINC00911	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	214342056	214342056	G	A	intergenic	PROX1,SMYD2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	mortality/aging,cardiovascular system phenotype	-,-	ICGC,
chr5	114262663	114262663	A	T	intergenic	KCNN2,TRIM36	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BOCA-UK|1|130|0.00769	-	-	integument phenotype,-	-,-	ICGC,
chr7	112513023	112513024	CA	-	intronic	C7orf60	unknown	deletion	-	-	-	0.0001	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	Schizophrenia	ICGC,
chr3	129292514	129292514	G	A	exonic	PLXND1	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM5398126	-	-	-	-	mortality/aging	Diabetic nephropathy, association with |Truncus arteriosus	COSMIC,COSMIC,
chr15	48816654	48816654	C	A	intronic	FBN1	unknown	SNV	-	-	-	0.1205	rs34054358	-	0.101637	-	0.058	-	-	LAML-KR|1|205|0.00488,PBCA-DE|1|499|0.00200	-	-	integument phenotype	Progeroid fibrillinopathy|Progeroid facial features & lipodystrophy|Potential protein deficiency|Phenotype modifier|Non-SGS marfanoid craniosynostosis|Mitral valve prolapse|Marfan syndrome, neonatal progeroid|Marfan syndrome, neonatal|Marfan syndrome, incomplete|Marfan syndrome with lipodystrophy|Scleroderma, protection against, association with |Shprintzen-Goldberg syndrome|Stiff skin syndrome|Weill-Marchesani syndrome with thoracic aortic disease|Weill-Marchesani syndrome|Thoracic aortic aneurysms and dissections.|Thoracic aortic aneurysms & dissections, association with |Thoracic aortic aneurysm or dissection|Thoracic aortic aneurysm and dissections|Thoracic aortic aneurysm  |Tall stature, association with|Tall stature and ectopia lentis|Stiff skin syndrome with ectopia lentis|Marfan syndrome with intracranial hypertension|Acromicric dysplasia|Ectopia lentis, isolated form|Ectopia lentis, isolated|Ectopia lentis and marfanoid habitus without cardiovascular dis|Ectopia lentis & aortic aneurysm / dissection|Ectopia lentis|Bilateral lens dislocation and glaucoma|Bicuspid aortic valve |Aortic dilation|Aortic aneurysm, thoracic|Aortic aneurysm|Essential hypertension, decreased risk|Fibrillinopathy|Marfan syndrome & schizophrenia|Marfan syndrome|Marfan syndrom with predominant ectopia lentis|Lens luxation and striae|Kyphoscoliosis|Idiopathic arthritis & mitral valve prolapse|Geleophysic dysplasia|Geleophysic / acromicric dysplasia|Furlong syndrome|Fibrillinopathy, type 1.|Fibrillinopathy, type 1	ICGC,
chrX	136711981	136711981	T	C	intergenic	ZIC3,LINC00889	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	mortality/aging,-	Situs abnormality|Heterotaxy|Congenital heart disease |Cardiac malformation,-	ICGC,
chr9	70083301	70083301	T	C	intergenic	LOC101928381,FOXD4L5	unknown	SNV	-	-	-	0.0067	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr15	53014002	53014002	C	T	intergenic	FAM214A,ONECUT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	Potential protein deficiency,-	ICGC,
chr2	26027125	26027125	A	C	intronic	ASXL2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	-	ICGC,
chr3	183996094	183996094	T	C	exonic	ECE2	nonsynonymous	SNV	0.001	0.954	-	-	-	-	-	-	-	COSM274930	COAD|1|367|0.00272,COADREAD|1|489|0.00204	COAD-US|1|254|0.00394	-	-	mortality/aging	-	COSMIC,COSMIC,TCGA,ICGC,
chr11	59754091	59754091	G	A	intergenic	TCN1,OOSP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Transcobalamin I deficiency|Transcobalamin I deficiency, mild,-	ICGC,
chr1	17273374	17273374	G	A	exonic	CROCC	nonsynonymous	SNV	0.218	0.068	1.865e-05	-	rs367868241	-	-	-	-	COSM4674765	-	-	-	-	vision/eye phenotype	-	COSMIC,
chr10	56047194	56047194	C	T	intronic	PCDH15	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	vision/eye phenotype	Usher syndrome II|Usher syndrome 1f|Usher syndrome 1|Lipid levels in hyperlipidaemia, association with|Hearing loss, non-syndromic|Deafness, non-syndromic, autosomal recessive|Deafness, non-syndromic |Deafness  	ICGC,
chr2	141007476	141007476	-	A	intronic	LRP1B	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN22834749	-	-	-	-	mortality/aging	Schizophrenia   	COSMIC,
chr6	120255806	120255806	T	C	intergenic	LOC285762,TBC1D32	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23597662	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,Oro-facio-digital syndrome type IX	COSMIC,ICGC,
chr5	72759481	72759481	G	A	intergenic	FOXD1,BTF3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,mortality/aging	Branchio-oculo-facial-like syndrome,-	ICGC,
chr9	11452427	11452427	C	T	intergenic	PTPRD-AS2,TYRP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,integument phenotype	-,Albinism, oculocutaneous  |Albinism, oculocutaneous 3|Melanesian blond hair	ICGC,
chr10	105362278	105362278	G	A	exonic	SH3PXD2A	synonymous	SNV	-	-	1.218e-05	-	-	-	-	-	-	COSM4011410	-	STAD-US|1|289|0.00346	-	-	-	-	COSMIC,ICGC,
chr10	19281892	19281892	T	G	intergenic	ARL5B,MALRD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	Altered expression,-	ICGC,
chr7	71602609	71602609	G	A	intronic	CALN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chrX	87526559	87526559	T	A	intergenic	KLHL4,CPXCR1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21296150	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr5	127730340	127730340	G	T	intronic	FBN2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16487318	-	PACA-AU|1|391|0.00256	-	-	mortality/aging	Contractural arachnodactyly|Congenital heart disease 	COSMIC,ICGC,
chr6	75312302	75312302	T	-	ncRNA_intronic	LOC101928516	unknown	deletion	-	-	-	0.0022	-	-	-	-	-	COSN27239910	-	BTCA-SG|2|71|0.02817	-	-	-	-	COSMIC,ICGC,
chr8	58779654	58779654	T	A	intergenic	LINC00588,FAM110B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	82971909	82971909	A	T	intergenic	LOC100507201,LOC1720	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr11	90568016	90568016	C	A	ncRNA_intronic	DISC1FP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	-	ICGC,
chr19	32502958	32502958	G	A	intergenic	THEG5,CTC-360P9.3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr16	22135027	22135027	A	G	exonic	VWA3A	nonsynonymous	SNV	0.004	1.0	-	-	-	-	-	-	-	-	-	GACA-JP|1|585|0.00171	-	-	-	-	ICGC,
chr4	111697804	111697804	-	CATTTTTATTTT	intergenic	PITX2,C4orf32	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	mortality/aging,-	Ring dermoid of the cornea|Rieger syndrome|Peter anomaly|Omphalocele, association with |Omphalocele|Iris hypoplasia|Iridogoniodysgenesis syndrome|Craniofacial/acallosal CNS midline defects|Axenfeld-Rieger syndrome|Anterior segment dysgenesis,-	ICGC,
chrX	129472695	129472695	C	T	intergenic	ZNF280C,SLC25A14	unknown	SNV	-	-	-	-	rs534042598	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr10	42658370	42658370	A	G	intergenic	NONE,LOC441666	unknown	SNV	-	-	-	-	rs9703050	-	-	-	-	COSN17453045	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	COSMIC,ICGC,
chr9	118839008	118839008	-	CA	intergenic	LINC00474,PAPPA	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|3|67|0.04478	-	-	-,skeleton phenotype	-,-	ICGC,
chr6	141369729	141369729	G	A	intergenic	MIR4465,NMBR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,behavior/neurological phenotype	-,-	ICGC,
chr14	71039426	71039426	G	T	intergenic	ADAM20,MED6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr9	39121775	39121775	C	G	intronic	CNTNAP3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr7	95565640	95565640	C	A	intronic	DYNC1I1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-	Split hand/foot malformation	ICGC,
chr2	23518889	23518889	C	T	intergenic	LOC102723362,KLHL29	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	ICGC,
chr2	237492674	237492674	G	A	intergenic	ACKR3,COPS8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,-	ICGC,
chr3	107145069	107145069	C	T	intergenic	CCDC54,LOC101929607	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr14	20028677	20028677	G	A	intergenic	POTEM,OR11H2	unknown	SNV	-	-	-	0.0002	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr6	54615769	54615769	T	C	intergenic	TINAG,FAM83B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25519850	-	MALY-DE|1|241|0.00415	-	-	-,-	Chronic renal failure, childhood-onset,-	COSMIC,ICGC,
chrX	55853324	55853324	G	A	intergenic	RRAGB,KLF8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-,embryogenesis phenotype	-,Intellectual disability, absent speech & behavioural problems|Mental retardation, non-syndromic |Potential protein deficiency	ICGC,
chr5	172632425	172632425	G	C	intergenic	BNIP1,NKX2-5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,integument phenotype	-,Wenckebach periodicity|Ventricular septal defect, association with|Ventricular septal defect|Thyroid dysgenesis|Tetralogy of Fallot|Isolated congenital asplenia|Hypoplastic left heart syndrome|Congenital heart disease.|Congenital heart disease, non-syndromic|Congenital heart disease, association with|Congenital heart disease & cardiomyopathy, adult-onset|Accessory atrioventricular connection |Atrial fibrillation|Atrial isomerism|Atrial septal defect|Atrioventricular septal defect |Cardiac disease|Cardiac disease, modifier of|Congenital heart disease 	ICGC,
chr11	28606649	28606649	C	T	intergenic	MIR8068,KCNA4	unknown	SNV	-	-	-	-	rs749295295	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,behavior/neurological phenotype	-,-	ICGC,
chr6	153417058	153417058	G	T	intronic	RGS17	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	-	ICGC,
chr3	147022785	147022785	C	A	intergenic	PLSCR5,ZIC4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15987356	-	PACA-CA|1|268|0.00373	-	-	-,mortality/aging	-,-	COSMIC,ICGC,
chr14	96180210	96180210	G	T	intronic	TCL1A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	reproductive system phenotype	-	ICGC,
chr8	50715906	50715906	G	A	intergenic	C8orf22,SNTG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,Autism|Intellectual disability, cleft palate, hearing loss and dysmorphisms	ICGC,
chr20	43960176	43960176	-	AGAT	intronic	SDC4	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	mortality/aging	-	ICGC,
chr9	13588683	13588683	G	C	intergenic	FLJ41200,LINC00583	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21317107	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chrX	148895095	148895095	C	T	intergenic	MAGEA9B,LINC00850	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,Mental retardation in Duchenne muscular dystrophy	ICGC,
chr20	10674186	10674186	G	A	intergenic	JAG1,LOC101929395	unknown	SNV	-	-	-	6.46e-05	rs774662232	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Tetralogy of Fallot, risk modifier|Tetralogy of Fallot and hypoplastic pulmonary arteries.|Tetralogy of Fallot|Pulmonic stenosis|Hearing loss, heart defects and posterior embryotoxon|Complex heart malformation|Cholestasis, intrahepatic|Bone mineral density, association with  |Biliary atresia, extrahepatic|Alagille syndrome with Moyamoya syndrome|Alagille syndrome,-	ICGC,
chr8	41618422	41618422	A	-	intronic	ANK1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813,LIRI-JP|1|258|0.00388	-	-	integument phenotype	Schizophrenia|Spherocytosis|Spherocytosis, psychomotor developmental delay & facial features	ICGC,
chr19	55063983	55063986	TGTA	-	intergenic	KIR3DX1,LILRA2	unknown	deletion	-	-	-	0.0028	rs577938459	-	0.00319489	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr14	105915374	105915374	C	T	intronic	MTA1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	integument phenotype	-	ICGC,
chr13	106360749	106360749	A	G	ncRNA_intronic	LINC00343	unknown	SNV	-	-	-	0.0014	rs28438409	-	-	-	0.080	COSN23912324	-	LAML-KR|1|205|0.00488	-	-	-	-	COSMIC,ICGC,
chr8	35573994	35573994	T	A	intronic	UNC5D	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	-	ICGC,
chr10	79812581	79812581	G	A	intronic	RPS24	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5884487	-	LIRI-JP|1|258|0.00388	-	-	-	Diamond-Blackfan anaemia	COSMIC,ICGC,
chr11	64864470	64864470	C	A	exonic	VPS51	nonsynonymous	SNV	0.058	0.97	-	-	-	-	-	-	-	COSM1194553	-	-	-	-	-	Potential protein deficiency	COSMIC,
chr3	41185001	41185001	G	A	intergenic	ZNF621,CTNNB1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,integument phenotype	-,Intellectual disability, syndromic  |Intellectual disability|Developmental delay, neurodegeneration & hair/skin/facial anomalies|Colorectal adenoma|Autism	ICGC,
chr16	62145977	62145977	A	T	intergenic	CDH8,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19010581	-	CLLE-ES|1|510|0.00196	-	-	integument phenotype,-	Learning disability  |Autism & learning disability ,-	COSMIC,ICGC,
chr9	91498269	91498269	C	T	intergenic	MIR4289,C9orf47	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	77596932	77596932	G	A	intergenic	AP3B1,SCAMP1-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype,-	Potential protein deficiency|Hermansky-Pudlak syndrome type 2|Hermansky-Pudlak syndrome,-	ICGC,
chr19	47658482	47658482	G	A	intronic	SAE1	unknown	SNV	-	-	0.1928	0.1604	rs11670191	0.1923	0.210463	0.1554	0.145	COSN19636263	-	COCA-CN|5|321|0.01558,LAML-KR|3|205|0.01463,LICA-CN|1|402|0.00249,LUSC-KR|1|170|0.00588	-	-	-	Autism	COSMIC,COSMIC,ICGC,
chr1	81911220	81911220	A	G	intergenic	NONE,LPHN2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,mortality/aging	-,Schizophrenia	ICGC,
chr1	42982634	42982634	G	A	intergenic	PPCS,CCDC30	unknown	SNV	-	-	-	0.0001	rs192789399	-	0.000399361	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,Schizophrenia	ICGC,
chrX	98634739	98634739	T	G	intergenic	DIAPH2,XRCC6P5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	cardiovascular system phenotype,-	Premature ovarian failure,-	ICGC,
chrX	143723403	143723403	G	T	intergenic	UBE2NL,SPANXN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	Potential protein deficiency,-	ICGC,
chr20	2222672	2222672	C	T	intergenic	LOC388780,TGM3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Basal cell carcinoma, increased risk, association with|Basal cell carcinoma, reduced risk, association with	ICGC,
chr2	137978993	137978994	CT	-	intronic	THSD7B	unknown	deletion	-	-	-	-	rs200307191	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	Autism spectrum disorder	ICGC,
chr13	76539274	76539274	-	T	intergenic	LMO7DN,KCTD12	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr3	82045832	82045832	A	T	intergenic	GBE1,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN156165	-	-	-	-	mortality/aging,-	Potential protein deficiency|Polyglucosan body disease, relapsing-remitting form|Polyglucosan body disease, adult|Lethal multiple pterygium syndrome|Glycogen storage disease 4, non-lethal neuromuscular|Glycogen storage disease 4, neonatal|Glycogen storage disease 4|Autism spectrum disorder|Adult polyglucosan body disease,-	COSMIC,
chr8	90386254	90386254	C	T	intergenic	MMP16,RIPK2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,hematopoietic system phenotype	-,Autism spectrum disorder	ICGC,
chr20	3127960	3127960	C	A	exonic	FASTKD5	nonsynonymous	SNV	0.006	1.0	-	-	-	-	-	-	-	COSM6092852	LUAD|1|543|0.00184	-	-	-	-	-	COSMIC,TCGA,
chr14	95411963	95411963	C	T	intergenic	GSC,DICER1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,integument phenotype	Microtia |Short stature, auditory canal atresia, mandibular hypoplasia and skeletal abnormalities,Ovarian Sertoli-Leydig cell tumour|Ovarian Sertoli-Leydig tumour |Ovarian Sertoli-Leydig tumour & multinodular goitre|Ovarian sex cord stromal tumour|Pineoblastoma|Schizophrenia|Seminoma|Wilms tumour|Multinodular goiter|Medulloblastoma |Autism |Blastoma, pleuropulmonary|Cystic nephroma|Developmental delay, lung cysts, overgrowth & Wilms tumour|Embryonal rhabdomyosarcomas|Goitre, multinodular|Gynandroblastoma|Juvenile granulosa cell tumour	ICGC,
chr5	100762969	100762969	C	T	intergenic	ST8SIA4,SLCO4C1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	-,-	ICGC,
chr5	98975717	98975717	T	G	intergenic	CTD-2151A2.1,LOC100133050	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr5	176481510	176481510	C	T	intronic	ZNF346	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr6	115347859	115347859	G	T	intergenic	HS3ST5,FRK	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,homeostasis/metabolism phenotype	-,Potential protein deficiency	ICGC,
chr17	65005221	65005221	C	T	intronic	CACNG4	unknown	SNV	-	-	-	0.0001	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging	-	ICGC,
chr10	14021646	14021646	T	C	intronic	FRMD4A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-	-	ICGC,
chr4	23780401	23780401	G	A	intergenic	MIR548AJ2,PPARGC1A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,Neovascularization in age-related macular degeneration, reduced risk|Left ventricular diastolic dysfunction in men, association with|Insulin resistance, association with|Increased risk for HCM|Hyperinsulinemia, HOMA-IR indices and abdominal obesity, association with|Huntington disease, age-at-onset in males, association with|Endurance-related phenotypes, association with|Diabetic nephropathy, association with|Diabetes, type 2, lower risk, association with|Diabetes, type 2, association with|Breast cancer|Body mass index, association with|Blood pressure, association with	ICGC,
chr7	49288790	49288790	C	T	intergenic	CDC14C,VWC2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chrX	65038259	65038259	G	A	intergenic	MSN,MIR223	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	normal phenotype,-	-,-	ICGC,
chr1	83233623	83233623	G	T	intergenic	LPHN2,LINC01361	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	mortality/aging,-	Schizophrenia,-	ICGC,
chr7	48760438	48760438	T	C	intergenic	ABCA13,CDC14C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Schizophrenia / depression|Schizophrenia / bipolar disorder / depression |Schizophrenia  |Bipolar disorder  |Autism|Anorectal malformation,-	ICGC,
chr1	153544303	153544303	G	A	intergenic	S100A2,S100A16	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	16061918	16061918	G	C	intergenic	MIR563,GALNT15	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26237173	-	PRAD-UK|1|140|0.00714	-	-	-,-	-,-	COSMIC,ICGC,
chr5	106266027	106266027	G	A	ncRNA_intronic	LOC102467213	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-	-	ICGC,
chr2	194207284	194207284	G	A	intergenic	PCGEM1,LOC101927406	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	12423058	12423058	A	T	intergenic	CTNND2,LINC01194	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	behavior/neurological phenotype,-	Schizophrenia  |Lennox-Gastaut syndrome |Autism spectrum disorder|Anorectal malformation|Altered localisation,-	ICGC,
chr1	84129213	84129213	G	C	ncRNA_intronic	LOC101927587	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-	-	ICGC,
chrY	13497860	13497860	C	T	intergenic	NONE,GYG2P1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr4	167361093	167361093	A	C	intergenic	TLL1,SPOCK3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,-	Hyperinsulinism|Atrial septal defect  ,-	ICGC,
chr4	180154993	180154993	T	G	intergenic	LINC01098,LINC00290	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr2	138301919	138301919	C	T	intronic	THSD7B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Autism spectrum disorder	ICGC,
chr5	24140423	24140423	C	T	intergenic	PRDM9,CDH10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	reproductive system phenotype,-	Altered meiotic recombination hotspot usage|Azoospermia by meiotic arrest, association with |Azoospermia, non-obstructive ,-	ICGC,
chr1	14284836	14284836	C	T	intergenic	PRDM2,KAZN	unknown	SNV	-	-	-	9.741e-05	-	-	-	-	-	COSN21422290	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging,hematopoietic system phenotype	Bone mineral density, association with ,-	COSMIC,ICGC,
chr13	33150738	33150738	A	-	intergenic	N4BP2L2,PDS5B	unknown	deletion	-	-	-	0.0477	rs796554560	-	-	-	-	-	-	BTCA-SG|4|71|0.05634	-	-	-,integument phenotype	Schizophrenia  ,-	ICGC,
chr19	10791772	10791772	G	C	exonic	ILF3	nonsynonymous	SNV	0.016	0.011	-	-	-	-	-	-	-	COSM6021791	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	mortality/aging	-	COSMIC,COSMIC,COSMIC,ICGC,
chr7	14938554	14938554	C	T	intergenic	DGKB,AGMO	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,-	-,-	ICGC,
chr2	162391175	162391175	G	A	intergenic	AHCTF1P1,SLC4A10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Schizophrenia  |Partial epilepsy and mental retardation|Mental retardation & muscular hypotonia|Mental retardation & generalised hypotonia|Epilepsy & mental retardation|Autism	ICGC,
chr4	178624619	178624619	T	G	intergenic	AGA,LINC01098	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	integument phenotype,-	Aspartylglucosaminuria,-	ICGC,
chrX	89244798	89244798	A	G	intergenic	TGIF2LX,PABPC5-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr8	56378433	56378433	G	A	intronic	XKR4	unknown	SNV	-	-	-	0.0002	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	Glaucoma, primary congenital	ICGC,
chr4	44780506	44780506	G	A	intergenic	GNPDA2,GABRG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr18	26834781	26834781	T	G	intergenic	CDH2,MIR302F	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	mortality/aging,-	Reduced expression|Potential protein deficiency|Alzheimer disease  ,-	ICGC,
chr16	23677052	23677052	A	T	intronic	DCTN5	unknown	SNV	0.003	-	-	-	-	-	-	-	-	COSM3772172	-	PACA-AU|1|391|0.00256	-	-	mortality/aging	-	COSMIC,ICGC,
chr9	130182822	130182822	C	A	intergenic	SLC2A8,ZNF79	unknown	SNV	-	-	-	-	rs546117026	-	0.000399361	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging,-	-,Autism spectrum disorder	ICGC,
chr10	16406273	16406273	C	G	intergenic	FAM188A,PTER	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21389391	-	BRCA-EU|1|569|0.00176	-	-	-,-	Non-small-cell lung cancer, increased risk, association with,-	COSMIC,ICGC,
chr15	45383571	45383571	C	T	intergenic	SORD,DUOX2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	vision/eye phenotype,skeleton phenotype	-,Thyroid dyshormonogenesis|Iodide organification defect|Increased promoter activity|Hypothyroidism, transient|Hypothyroidism, delayed-onset|Hypothyroidism|Goitre	ICGC,
chr3	126792620	126792620	-	C	intergenic	PLXNA1,C3orf56	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	hematopoietic system phenotype,-	Atrial septal defect |Schizophrenia,-	ICGC,
chr1	181708367	181708367	G	A	exonic	CACNA1E	nonsynonymous	SNV	0.001	0.994	-	-	-	-	-	-	-	-	-	GACA-JP|1|585|0.00171	-	-	behavior/neurological phenotype	Autism|Diabetes, type 2, association with	ICGC,
chr8	133468325	133468325	G	A	intronic	KCNQ3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Seizures, benign infantile|Intellectual disability, nonsyndromic|Epilepsy, rolandic without neonatal seizures|Epilepsy, rolandic & benign neonatal convulsions|Epilepsy, idiopathic  |Epilepsy, benign neonatal|Benign familial neonatal convulsions	ICGC,
chr1	239237177	239237177	G	A	intergenic	LINC01139,CHRM3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|3|183|0.01639	-	-	-,vision/eye phenotype	-,Autistic disorder|Bladder malformation|Diabetes, type 2, increased risk, association |Tetralogy of Fallot	ICGC,
chr19	581348	581348	G	A	exonic	BSG	nonsynonymous	SNV	0.002	1.0	-	-	-	-	-	-	-	COSM6613175	ESCA|1|185|0.00541	-	-	-	mortality/aging	Blood group variation|Psoriasis, susceptibility, association with	COSMIC,COSMIC,TCGA,
chr11	78824054	78824054	C	T	intronic	TENM4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN4699587	-	BRCA-UK|1|141|0.00709,BRCA-EU|1|569|0.00176	-	-	mortality/aging	-	COSMIC,COSMIC,ICGC,
chr3	108873050	108873050	CC	TT	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr11	40020871	40020871	-	GAGAGAGAGAGA	intergenic	LOC101928536,LRRC4C	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr8	49344925	49344925	C	A	intergenic	UBE2V2,LOC101929268	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2277289	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr10	92010443	92010443	G	A	intergenic	LINC01375,LOC101926942	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr10	6548414	6548414	C	T	intronic	PRKCQ	unknown	SNV	-	-	-	9.692e-05	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	mortality/aging	-	ICGC,
chr6	141663674	141663674	C	T	intergenic	MIR4465,NMBR	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9969017	-	RECA-EU|1|422|0.00237	-	-	-,behavior/neurological phenotype	-,-	COSMIC,ICGC,
chr4	130927192	130927192	G	A	intergenic	LOC101927282,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20162781	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	COSMIC,ICGC,
chr1	184235082	184235082	C	T	intergenic	TSEN15,C1orf21	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr2	77753200	77753200	A	G	intergenic	LRRTM4,LOC101927967	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1855791	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr5	156688716	156688716	G	A	intergenic	ITK,CYFIP2	unknown	SNV	-	-	-	9.687e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype,mortality/aging	Ovarian cancer |Lymphoproliferative syndrome    |IL2-inducible T-cell kinase deficiency|Autism spectrum disorder|Asthma, increased risk, association with  ,Potential protein deficiency	ICGC,
chr9	20499539	20499539	C	A	intronic	MLLT3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CN|1|65|0.01538	-	-	mortality/aging	Neuromotor dev. delay, cerebellar ataxia, epilepsy	ICGC,
chr5	86447699	86447699	C	T	ncRNA_intronic	LOC101929380	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr4	94748747	94748747	T	G	intergenic	GRID2,ATOH1	unknown	SNV	-	-	-	9.658e-05	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,mortality/aging	Cerebellar ataxia & tonic upgaze|Cerebellar ataxia and atrophy|Schizophrenia|Spastic paraplegia, complicated,-	ICGC,
chr4	4792506	4792506	T	A	intergenic	STX18-AS1,MSX1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Tooth agenesis|Tooth agenesis and orofacial clefting|Tooth agenesis with cleft lip|Upper lateral incisor agenesis, association with|Witkop syndrome|Witkop syndrome.|Oligodontia in Wolf-Hirschhorn syndrome|Oligodontia|Hypodontia|Breast cancer, association with|Cleft lip and palate|Cleft lip and palate with tooth agenesis, association with|Cleft lip with or without cleft palate, association |Cleft lip with or without cleft palate, nonsyndromic|Cleft lip, incomplete 	ICGC,
chr2	195883839	195883839	T	A	intergenic	LOC101927431,SLC39A10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr19	7789919	7789919	A	G	intergenic	FCER2,CLEC4G	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype,-	Altered transcriptional activity,-	ICGC,
chr12	84156030	84156030	T	G	intergenic	TMTC2,SLC6A15	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,reproductive system phenotype	-,Increased maximal 3H proline uptake	ICGC,
chr9	40482129	40482129	G	A	intergenic	FAM74A1,SPATA31A3	unknown	SNV	-	-	-	0.0579	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr8	106087302	106087302	T	C	intergenic	LRP12,ZFPM2	unknown	SNV	-	-	-	0.0055	rs566731713	-	0.00379393	-	-	-	-	PBCA-US|1|186|0.00538,MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Atrial septal defect & gonadal dysgenesis|Diaphragmatic hernia, congenital|Double outlet right ventricle |Gonadal dysgenesis |Reduced activity|Tetralogy of Fallot 	ICGC,
chr6	105608221	105608221	G	C	ncRNA_intronic	BVES-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21461930	-	BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr4	52855988	52855988	G	T	intergenic	DCUN1D4,LRRC66	unknown	SNV	-	-	-	9.691e-05	rs544330412	-	0.000399361	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr3	27845929	27845929	C	T	intergenic	EOMES,CMC1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	mortality/aging,-	Altered p53 binding|Microcephaly with polymicrogyria,-	ICGC,
chr9	82655958	82655958	C	T	intergenic	LOC101927477,TLE1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr20	53555247	53555247	A	T	intergenic	DOK5,LINC01441	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	-,-	ICGC,
chr15	99412862	99412862	C	T	intronic	IGF1R	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	integument phenotype	Pacreatic cancer, clinical outcome, association with |Papillary thyroid carcinoma, association with|Psychiatric disorders  |Short stature|Short stature & intrauterine growth retardation|Short stature, association with|Short staure & intrauterine growth retardation|Silver-Russell syndrome |Single suture craniosynostosis |Overgrowth|Lipodystrophy |Left ventricular mass in male athletes, association with|Autoaggressive behaviour|Breast cancer, association with |Growth retardation|Growth retardation & microcephaly|Growth retardation, intrauterine & postnatal|Growth retardation, microcephaly & Silver-Russell syndrome features|Increased longevity|Intrauterine growth retardation, dysmorphic features & insulin resistance|Ischaemic stroke risk	ICGC,
chr7	78477175	78477175	G	A	intronic	MAGI2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Seizures|Schizophrenia|Myoclonic epilepsy |Infantile spasms in Williams-Beuren syndrome|Infantile spasms|Developmental delay & microcephaly|Developmental delay  |Developmental and/or speech and/or behavioural problems	ICGC,
chr1	196834158	196834158	C	T	intergenic	CFHR1,CFHR4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Systemic lupus erythematosus, increased risk|Macular degeneration, age-related, lower risk, association|Macular degeneration, age-related, association with|Haemolytic uraemic syndrome, atypical|Haemolytic uraemic syndrome |C3 glomerulopathy|Blood pressure, association with.|Atypical hemolytic uremic syndrome,-	ICGC,
chr6	138587602	138587602	C	T	intronic	KIAA1244	unknown	SNV	-	-	-	0.0027	rs146691437	-	0.00658946	-	-	-	-	LAML-KR|1|205|0.00488	-	-	-	Schizophrenia	ICGC,
chr22	34623616	34623616	G	A	intergenic	LARGE,ISX	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,no phenotypic analysis	Alpha-dystroglycanopathy |Autism, non-complex|Fukushima congenital muscular dystrophy|Muscular dystrophy, congenital 1D|Walker-Warburg syndrome|Walker-Warburg syndrome.,-	ICGC,
chr20	55224744	55224744	C	T	intergenic	TFAP2C,BMP7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,integument phenotype	-,Hypospadias|Eye / skeletal anomalies	ICGC,
chr13	63794147	63794147	G	A	intergenic	LINC00448,LINC00395	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr10	27204258	27204258	G	A	intergenic	ABI1,LINC00202-1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	mortality/aging,-	-,-	ICGC,
chr8	27862959	27862959	C	T	intergenic	SCARA5,NUGGC	unknown	SNV	-	-	-	0.4715	rs13268250	-	0.434305	-	0.391	-	-	LAML-KR|1|205|0.00488	-	-	-,hematopoietic system phenotype	-,-	ICGC,
chr17	6580266	6580266	C	T	intergenic	ALOX15P1,SLC13A5	unknown	SNV	-	-	-	0.0019	rs143041440	-	0.000599042	-	-	COSN1726590	-	-	-	-	-,behavior/neurological phenotype	-,-	COSMIC,
chrX	104676567	104676567	G	T	intronic	IL1RAPL2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	UTCA-FR|1|20|0.05000	-	-	-	-	ICGC,
chr16	61076656	61076656	A	T	intergenic	LOC729159,CDH8	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6089029	-	LIRI-JP|1|258|0.00388	-	-	-,integument phenotype	-,Learning disability  |Autism & learning disability 	COSMIC,ICGC,
chr14	38163798	38163798	G	A	intergenic	FOXA1,SSTR1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	integument phenotype,vision/eye phenotype	Impaired glucose homeostasis ,-	ICGC,
chrX	26153951	26153951	A	G	intergenic	ARX,MAGEB18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	integument phenotype,-	Infantile spasms & intellectual disability|Intellectual disability & dystonia|Intellectual disability, X-linked|Lissencephaly, X-linked, with abnormal genitalia|Mental retardation|Mental retardation and epilepsy|Neurodegeneration   |Neurodegeneration with Ohtahara syndrome and mov disord|Ohtahara syndrome|Ohtahara syndrome with developmental delay|Partington syndrome|Infantile spasm syndrome, X-linked|Generalized dystonia without infantile spasms|ACC, epilepsy, abnormal genitalia|ACC, infantile spasms & abnormal genitalia|ACC, lissencephaly, seizures & genital hypoplasia|ACC, mental retardation, epilepsy & dyskinetic quadriparesis|Asymmetric polymicrogyria & periventricular nodular heterotopia|Autism spectrum disorder|Developmental delay and early hand preference.|Epilepsy, early-onset|Epilepsy, early-onset.|Epileptic encephalopathy, early infantile|Epileptic encephalopathy, early onset,-	ICGC,
chr7	138399792	138399792	C	T	intronic	ATP6V0A4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Distal renal tubular acidosis, autosomal recessive|Distal renal tubular acidosis, with sensorineural hearing loss|Renal tubular acidosis, sensorineural deafness	ICGC,
chr5	54225283	54225283	-	T	intergenic	LOC102467080,ESM1	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN14680571	-	-	-	-	-,-	-,-	COSMIC,
chr16	78372340	78372340	A	-	intronic	WWOX	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging	Reduced plasma HDL cholesterol, association with|Non-small-cell lung cancer |Microcephaly syndrome, early lethal|Lung cancer, increased risk, association with|Differentiated thyroid carcinoma, association with|Cerebellar ataxia with epilepsy & mental retardation|Cancer |46,XY disorder of sex development 	ICGC,
chr7	106558254	106558254	G	-	intergenic	PIK3CG,PRKAR2B	unknown	deletion	-	-	-	3.234e-05	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	integument phenotype,integument phenotype	Altered platelet volume|Chronic infection and pelvic pain,-	ICGC,
chr6	38322585	38322585	A	C	intronic	BTBD9	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17515787	-	ESAD-UK|1|301|0.00332	-	-	behavior/neurological phenotype	Periodic limb movements in sleep, association 	COSMIC,ICGC,
chr8	19211795	19211795	A	C	intronic	SH2D4A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	no phenotypic analysis	-	ICGC,
chr7	129463478	129463478	G	A	intergenic	MIR183,UBE2H	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24177066	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	-,-	-,-	COSMIC,COSMIC,ICGC,
chr21	28242771	28242771	G	A	intergenic	ADAMTS1,ADAMTS5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	mortality/aging,integument phenotype	Schizophrenia,-	ICGC,
chr9	31401072	31401072	G	A	intergenic	LINC01242,ACO1	unknown	SNV	-	-	-	0.0058	rs143194477	-	0.00439297	-	0.007	COSN22497455	-	BRCA-EU|1|569|0.00176	-	-	-,mortality/aging	-,Schizophrenia	COSMIC,ICGC,
chr3	17149981	17149981	T	C	intergenic	PLCL2,TBC1D5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype,-	-,-	ICGC,
chr20	57947016	57947016	A	C	intergenic	EDN3,PHACTR3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Waardenburg-Hirschsprung disease|Waardenburg syndrome 4B|Waardenburg syndrome 4|Shah-Waardenburg syndrome|Phenotype modification in HSCR|Hirschsprung disease|Deafness  |Central hypoventilation syndrome,-	ICGC,
chr13	58574654	58574654	G	A	intergenic	PCDH17,LOC101926897	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr14	86788843	86788843	G	A	intergenic	LOC101928767,LOC283585	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr8	14738042	14738042	G	T	intronic	SGCZ	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	Cervical artery dissection	ICGC,
chr18	15405116	15405116	A	T	intergenic	LOC644669,NONE	unknown	SNV	-	-	-	0	-	-	-	-	-	-	-	LAML-KR|1|205|0.00488	-	-	-,-	-,-	ICGC,
chr6	65495490	65495490	G	A	intronic	EYS	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Cone-rod dystrophy, autosomal recessive.|Leber congenital amaurosis|Retinitis pigmentosa|Retinitis pigmentosa, autosomal recessive |Retinitis pigmentosa, autosomal recessive/Leber congenital amaurosis	ICGC,
chr5	176176588	176176588	G	C	intergenic	LOC102577424,UNC5A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21798016	-	BRCA-EU|1|569|0.00176	-	-	-,cellular phenotype	-,-	COSMIC,ICGC,
chr1	8617516	8617516	C	T	exonic	RERE	nonsynonymous	SNV	0.002	1.0	-	-	-	-	-	-	-	COSM1195643	-	-	-	-	mortality/aging	Autism	COSMIC,
chr7	154082078	154082078	G	A	intronic	DPP6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	nervous system phenotype	Autism spectrum disorder  |Schizophrenia  |Ventricular fibrillation, idiopathic 	ICGC,
chrX	116952886	116952886	C	T	intergenic	CT83,KLHL13	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,-	-,Peripheral neuropathy  	ICGC,
chr5	84192221	84192221	G	T	intergenic	EDIL3,NBPF22P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	immune system phenotype,-	Schizophrenia  ,-	ICGC,
chr4	107367946	107367965	CTAGGTGGAGGTTCCCAAAC	-	intergenic	GIMD1,DKK2	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,hematopoietic system phenotype	-,Schizophrenia, association with  	ICGC,
chr10	123054576	123054581	GTGTGT	-	intergenic	MIR5694,FGFR2	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,integument phenotype	-,Crouzon syndrome with ventricular septal defect.|Crouzon syndrome, atypical|Crouzon syndrome.|Hypospadias |Jackson-Weiss syndrome|Lacrimo-auriculo-dento-digital syndrome|Pfeiffer syndrome|Pfeiffer syndrome, Crouzon syndrome.|Pfeiffer syndrome.|Reduced transcription|Saethre-Chotzen syndrome|Saethre-Chotzen-like|Crouzon syndrome with atrial septal defect.|Crouzon syndrome|Antley-Bixler syndrome|Antley-Bixler, Beare-Stevenson & Pfeiffer syndromes|Apert syndrome|Beare-Stevenson cutis gyrata syndrome|Bent bone dysplasia |Breast cancer, association with.|Breast cancer, increased risk, association with|Breast cancer, reduced risk, association with|Cleft lip and palate|Cleft lip, non-syndromic |Craniosynostosis|Craniosynostosis, predisposition to 	ICGC,
chrX	35998271	35998271	A	C	intronic	CXorf22	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	-	ICGC,
chr2	369882	369882	G	A	intergenic	FAM150B,TMEM18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Obesity  	ICGC,
chr9	121861484	121861484	C	T	intergenic	TLR4,BRINP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype,-	Phenotypic variation in haemochromatosis, association with|Periodontitis, association with|Pancreatic necrotic infection, association with|Negative association with FMF|Nasopharyngeal cancer, increased risk, association with|Moraxella catarrhalis infection, increased risk, association with|Metabolic syndrome, association with|Meningococcal disease susceptibility|Meningococcal disease mortality|Lung function, association with|Lower left ventricular mass, in hypertensive women, association|Increased risk of cirrhosis in chronic hepatitis C ?|Increased liver and body fat, association with|Potential protein deficiency|Preterm birth and premature rupture of membranes, association with|Tuberculosis susceptibility, in HIV-infected patients, association|Serious infection, in HIV-1 patients, association with|Retinitis pigmentosa |Reduced LPS-induced IL-12 secretion, association with|Reduced expression|Pulmonary tuberculosis, susceptibility and severity, association|Pulmonary tuberculosis, severity, association with|Protection from urinary tract infection, association with|Protection against being overweight|Prostate cancer, increased risk|Prostate cancer risk, association with|Primary open-angle, normal-tension, and exfoliation glaucoma, association with.|Typhoid infection, increased risk, association with|Increased IL-4 secretion response to measles vaccination, association|Cutaneous leishmaniasis, association with|Crohn's disease, association with|Colorectal cancer, association with.|Colorectal cancer risk, association with|Cervical cancer, early stage, association with|Cancer, increased risk, association with|Bronchopulmonary Dysplasia, infant, association with|Breast cancer, association with.|Behcet disease, protection against, association with|Altered monocyte receptor levels|Acute pyelonephritis, reduced risk in adults, association with|Acute pyelonephritis, in children, association with|Diabetes, type 2, protection against, association with|Digestive system cancer, increased risk & prostate cancer, protection against, association with|Emphysema, association with|Increased expression|Helicobacter pylori-related gastric atrophy, association with|HBV recurrence after liver transplantation, association with|Guillain-Barré syndrome, association with|Guillain-Barré syndrome, AMAN sub-type, association with|Gastritis, association with|Gastric carcinoma, association with|Endometriosis, association with|Endotoxin hyporesponsiveness, association with|Extra-intestinal manifestations in Crohn's disease, association with.|Gastric adenocarcinoma, association with|Gastric cancer, association with,-	ICGC,
chr4	110409917	110409917	A	G	intronic	SEC24B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-JP|1|585|0.00171	-	-	mortality/aging	Neural tube defects	ICGC,
chr1	62579408	62579408	T	C	intronic	INADL	unknown	SNV	-	-	-	0.0049	rs80353104	-	0.0173722	-	0.007	-	-	LAML-KR|1|205|0.00488	-	-	-	Weight variance, association with	ICGC,
chr8	89282672	89282672	T	C	intronic	MMP16	unknown	SNV	-	-	-	3.231e-05	-	-	-	-	-	COSN23812344	-	ORCA-IN|1|178|0.00562	-	-	mortality/aging	-	COSMIC,ICGC,
chr14	28910937	28910937	G	A	intergenic	LINC00645,FOXG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,West syndrome |Rett-like syndrome|Rett syndrome|Refractory epilepsy & intellectual impairment|Microcephaly, mental retardation & thin genu of corpus callosum|Mental retardation, speech impairment & epilepsy|Mental retardation & speech impairment|Mental retardation & postnatal microcephaly|Mental retardation & callosum abnormalities|Mental retardation|Infantile spasms|Hemifacial microsomia|Generalized dystonia, athetosis and parkinsonism|Developmental delay, microcephaly & hypoplasia of the corpus callosum|Developmental delay, hypotonia, microcephaly & infantile spasms|Developmental delay & slow head growth|Agenesis of corpus callosum	ICGC,
chr5	84653186	84653186	T	C	intergenic	EDIL3,NBPF22P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	immune system phenotype,-	Schizophrenia  ,-	ICGC,
chr17	74298377	74298377	C	-	intronic	QRICH2	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	PACA-AU|1|391|0.00256	-	-	-	-	ICGC,
chr4	188176879	188176879	C	T	intergenic	FAT1,LOC339975	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Autism,-	ICGC,
chr3	111225915	111225915	T	C	intergenic	PVRL3,CD96	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,-	Cataract, bilateral congenital  ,C syndrome	ICGC,
chr14	80446282	80446282	G	A	intergenic	NRXN3,DIO2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7028346	-	PACA-AU|1|391|0.00256	-	-	mortality/aging,digestive/alimentary phenotype	Alcohol dependence, association with|Autism spectrum disorder  ,Symptomatic osteoarthritis, susceptibility to|Reduced serum thyroxine|Insulin resistance, association with|Insulin resistance in type 2 diabetes, association with|Hypertension, increased risk|Graves' disease, association with.|Diabetes, type 2, association with|Diabetes mellitus, type 2, early-onset, association with.|Delayed triiodothyronine secretion, association with|Altered hypothalamus-pituitary-thyroid axis set point, association with|Acute lung injury, sepsis-associated, protection against	COSMIC,ICGC,
chr4	44144733	44144733	A	C	intergenic	GRXCR1,KCTD8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|2|301|0.00664	-	-	behavior/neurological phenotype,-	Hearing impairment, nonsyndromic, autosomal recessive,-	ICGC,
chr10	115709107	115709107	G	A	intergenic	NHLRC2,ADRB1	unknown	SNV	-	-	-	0.0002	-	-	-	-	-	COSN10060200	-	RECA-EU|1|422|0.00237,PBCA-DE|1|499|0.00200	-	-	-,mortality/aging	-,Stress-related hypertension, association with|Sick sinus node syndrome, association with|Increased responsiveness to beta-blockers, association with|Idiopathic ventricular arrhythmias, association with|Hypertensive cardiovascular disease, association with|Heart rate response to esmolol, association with|Heart failure, survival, association with|Gain of function|Essential hypertension, association with|Atrial fibrillation, association with	COSMIC,ICGC,
chr14	92844037	92844037	G	T	intronic	SLC24A4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	taste/olfaction phenotype	Amelogenesis imperfecta|Hypomaturation enamel defects	ICGC,
chr1	111404378	111404378	C	T	intergenic	KCNA3,CD53	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	growth/size phenotype,-	Decreased olfactory function|Decreased promoter activity|Low insulin sensitivity, association with,-	ICGC,
chr5	167385249	167385249	T	G	intronic	TENM2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr14	101286512	101286512	G	T	intergenic	MIR2392,MEG3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,mortality/aging	-,-	ICGC,
chr10	49447118	49447118	C	T	intronic	FRMPD2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN4714429	-	MALY-DE|1|241|0.00415	-	-	-	-	COSMIC,ICGC,
chr19	2661247	2661247	G	A	intronic	GNG7	unknown	SNV	-	-	-	0.0022	rs144071205	-	-	-	-	COSN17434722	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging	-	COSMIC,ICGC,
chr5	175087133	175087133	C	A	intronic	HRH2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25063693	-	MALY-DE|1|241|0.00415	-	-	behavior/neurological phenotype	Schizophrenia, association with	COSMIC,ICGC,
chr1	207831639	207831639	G	A	intronic	CR1L	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Schizophrenia	ICGC,
chr3	13534217	13534217	T	G	intronic	HDAC11	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1915362	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr11	104890161	104890161	G	A	intronic	CASP5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	Lung cancer, association with	ICGC,
chr8	131941411	131941411	T	G	intronic	ADCY8	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8851888	-	ESAD-UK|1|301|0.00332,GACA-CN|1|123|0.00813	-	-	integument phenotype	Myocardial infarction  	COSMIC,ICGC,
chr4	109440795	109440795	C	A	intergenic	LEF1-AS1,RPL34-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24803312	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	COSMIC,ICGC,
chr3	84205476	84205476	T	C	intergenic	NONE,LINC00971	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15268350	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr7	47982115	47982115	C	A	intronic	PKD1L1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	mortality/aging	Subarachnoid haemorrhage, association with	ICGC,
chrX	19096974	19096974	C	T	intronic	GPR64	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22617929	-	BRCA-EU|1|569|0.00176	-	-	reproductive system phenotype	-	COSMIC,ICGC,
chr3	97930329	97930329	C	T	intergenic	OR5H15,OR5H6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Olfactory receptor deficiency 	ICGC,
chr10	16300707	16300707	G	A	intergenic	FAM188A,PTER	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Non-small-cell lung cancer, increased risk, association with,-	ICGC,
chr9	30318539	30318539	T	A	intergenic	LINGO2,LINC01242	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21838792	-	BRCA-EU|1|569|0.00176	-	-	-,-	Autism spectrum disorder  |Developmental delay with absent speech,-	COSMIC,ICGC,
chr9	20265715	20265715	A	C	intergenic	SLC24A2,MLLT3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	vision/eye phenotype,mortality/aging	Retinal disease,Neuromotor dev. delay, cerebellar ataxia, epilepsy	ICGC,
chr8	32608400	32608400	G	A	intronic	NRG1	unknown	SNV	-	-	-	3.237e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Sudden cardiac death, association with|Schizophrenia, association with  |Schizophrenia in African Americans, association with|Prepulse inhibition, association with|Perceptual aberration of schizotypal personality, association with|Increased lateral ventricle volume in schizophrenia|Hirschsprung disease|Developmental delay, hypotonia & microcephaly|Alzheimers disease, association with	ICGC,
chrX	2982049	2982049	C	A	intronic	ARSF	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Autism spectrum disorder|Potential protein deficiency	ICGC,
chr2	59475199	59475199	A	G	ncRNA_intronic	LOC101927285	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr2	59183532	59183532	A	-	ncRNA_intronic	LINC01122	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr22	23609500	23609500	A	G	intronic	BCR	unknown	SNV	-	-	-	0.3493	rs5759669	-	0.334265	-	0.341	-	-	LAML-KR|1|205|0.00488	-	-	mortality/aging	Bipolar disorder, association with |Lithium prophylaxis, association with	ICGC,
chr20	16212002	16212002	A	C	intergenic	MACROD2,KIF16B	unknown	SNV	-	-	-	0.4158	rs4814458	-	0.285942	-	0.355	-	-	LAML-KR|1|205|0.00488	-	-	-,mortality/aging	Kabuki syndrome|Attention deficit hyperactivity disorder ,-	ICGC,
chr2	228306578	228306578	C	G	intergenic	TM4SF20,MIR5703	unknown	SNV	-	-	-	0.0666	rs78381458	-	0.0700879	-	0.043	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	White matter hyperintensities and language delay,-	ICGC,
chr2	89164443	89164443	A	C	intergenic	MIR4436A,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25581570	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	COSMIC,ICGC,
chr17	61629291	61629291	-	AAAAAGAA	intronic	DCAF7	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	-	ICGC,
chr16	9719728	9719728	G	A	intergenic	MIR7641-2,GRIN2A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,integument phenotype	-,Intellectual disability  |Landau-Kleffner syndrome|Landau-Kleffner syndrome, atypical rolandic epilepsy, dysphasia, CSWS syndrome|Landau-Kleffner syndrome, verbal dyspraxia|Landau-Kleffner syndrome/benign epilepsy with centrotemporal spikes/atypical benign partial epilepsy|Mental retardation with abnormal EEG|Partial epilepsy, atypical benign|Rolandic epilepsy |Schizophrenia|Schizophrenia, chronic outcome, association with|Seizure disorders of rolandic region & intellectual disability|Increased hippocampal and amygdala volumes, association with|Epileptic encephalopathy, verbal dyspraxia|Epileptic encephalopathy, benign childhood epilepsy|Alcohol dependence, association with|Atypical rolandic epilepsy, absence epilepsy|Atypical rolandic epilepsy, verbal dyspraxia|Benign epilepsy with centrotemporal spikes|Epilepsy with cognitive impairment|Epilepsy-aphasia syndrome|Epilepsy, childhood-onset|Epileptic encephalopathy|Epileptic encephalopathy, abnormal EEG & developmental delay|Epileptic encephalopathy, atypical rolandic epilepsy, dysphasia|Epileptic encephalopathy, atypical rolandic epilepsy, verbal dyspraxia	ICGC,
chr5	887594	887594	G	A	intronic	BRD9	unknown	SNV	-	-	8.137e-06	-	rs753686468	8.256e-06	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr13	64848343	64848343	G	A	intergenic	OR7E156P,PCDH9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr1	176868116	176868116	C	T	intronic	ASTN1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24010779	-	BRCA-FR|1|72|0.01389	-	-	behavior/neurological phenotype	-	COSMIC,ICGC,
chr7	89967948	89967955	TTTTTTTT	-	ncRNA_intronic	LOC101927446	unknown	deletion	-	-	-	0.3752	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-	-	ICGC,
chr1	1699304	1699304	G	A	intronic	NADK	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr7	66623643	66623643	G	A	intronic	TYW1	unknown	SNV	-	-	-	3.232e-05	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	-	ICGC,
chr3	67069622	67069622	C	T	intergenic	KBTBD8,MIR4272	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	135849061	135849061	A	T	intergenic	PABPC4L,LINC00613	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	Autism spectrum disorder  ,-	ICGC,
chr2	153783311	153783311	C	T	intergenic	ARL6IP6,RPRM	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Autism spectrum disorder|Bardet-Biedl like features,-	ICGC,
chr9	73981885	73981885	T	C	intergenic	TRPM3,TMEM2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5704563	-	LIRI-JP|1|258|0.00388	-	-	integument phenotype,-	Schizophrenia  |Mental retardation,Hepatitis B, chronic, association with	COSMIC,ICGC,
chr20	40509477	40509477	G	A	intergenic	CHD6,PTPRT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,homeostasis/metabolism phenotype	Mental retardation with brachydactyly of toes,Intellectual disability, behavioural problems, microcephaly & cardiac defect|Attention deficit hyperactivity disorder 	ICGC,
chr15	94616557	94616557	G	A	ncRNA_intronic	LOC101927112	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-	-	ICGC,
chr7	102579656	102579656	G	T	intronic	FBXL13,LRRC17	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23553547	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,-	COSMIC,ICGC,
chr13	68827692	68827692	G	T	intergenic	PCDH9,LINC00550	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr6	83653055	83653055	T	G	intronic	UBE3D	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	-	-	ICGC,
chr13	105683352	105683352	C	T	intergenic	MIR548AS,DAOA-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr9	67270361	67270361	C	-	ncRNA_exonic	AQP7P1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	PRAD-UK|1|140|0.00714	-	-	-	-	ICGC,
chr3	56156619	56156619	C	T	intronic	ERC2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	vision/eye phenotype	-	ICGC,
chr10	19882908	19882908	G	T	intronic	MALRD1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1481110	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr5	99259200	99259200	C	T	intergenic	CTD-2151A2.1,LOC100133050	unknown	SNV	-	-	-	0.0047	rs149994121	-	0.00479233	-	0.007	COSN7589288	-	PACA-AU|1|391|0.00256,MELA-AU|1|183|0.00546	-	-	-,-	-,-	COSMIC,ICGC,
chr7	110662262	110662262	A	C	intronic	IMMP2L	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23226057	-	MALY-DE|1|241|0.00415	-	-	reproductive system phenotype	Gilles de la Tourette syndrome|Autism	COSMIC,ICGC,
chr20	3043700	3043700	G	A	intergenic	MRPS26,OXT	unknown	SNV	-	-	-	0.5770	rs6084251	-	0.555711	-	0.261	-	-	ESAD-UK|1|301|0.00332,SKCA-BR|1|100|0.01000	-	-	-,integument phenotype	-,-	ICGC,
chr10	81372170	81372170	G	A	exonic	SFTPA1	nonsynonymous	SNV	0.002	0.999	4.063e-06	-	-	-	-	-	-	COSM3665909	-	LINC-JP|2|394|0.00508	-	-	-	Idiopathic pulmonary fibrosis, association with|Increased TGFB1 secretion|Tuberculosis susceptibility	COSMIC,ICGC,
chr2	59687718	59687718	A	G	intergenic	LOC101927285,MIR4432	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7078371	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	COSMIC,ICGC,
chr7	125447288	125447288	C	T	intergenic	LOC101928283,GRM8	unknown	SNV	-	-	-	3.24e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,behavior/neurological phenotype	-,Attention deficit hyperactivity disorder|Autism spectrum disorder  	ICGC,
chr17	6441355	6441355	G	T	exonic	PITPNM3	nonsynonymous	SNV	0.217	0.093	0	-	-	-	-	-	-	COSM4714593	-	-	-	-	-	Retinitis pigmentosa|Cone dystrophy, autosomal dominant|Cone dystrophy 	COSMIC,
chr11	37992365	37992365	G	A	intergenic	C11orf74,LOC103312105	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN4722027	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	COSMIC,ICGC,
chr12	40704287	40704287	G	A	exonic	LRRK2	nonsynonymous	SNV	0.197	0.003	-	-	-	-	-	-	-	-	HNSC|2|512|0.00391	BRCA-EU|1|569|0.00176	-	-	integument phenotype	Rheumatoid arthritis|Restless leg syndrome.|Potential protein deficiency|Postural instability and gait difficulty, in Parkinson disease|Parkinson disease, reduced risk, association with|Parkinson disease, association with|Parkinson disease |Parkinson and alzheimer disease|Multiple sclerosis|Dyslipidaemia|Concomitant non-skin cancer|Cancer, increased risk, association with|Alzheimer's disease, association with	TCGA,ICGC,
chr6	96761577	96761577	G	T	intergenic	FUT9,UFL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	normal phenotype,mortality/aging	-,Schizophrenia	ICGC,
chr14	106571587	106571587	C	A	intergenic	ADAM6,LINC00226	unknown	SNV	-	-	-	0.3597	rs12886689	-	0.339257	-	0.159	-	-	MELA-AU|2|183|0.01093	-	-	-,-	-,-	ICGC,
chrX	151466544	151466544	C	T	intronic	GABRA3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	Decreased expression	ICGC,
chr3	65836188	65836188	G	A	intronic	MAGI1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Schizophrenia  |Bipolar affective disorder  	ICGC,
chr11	77793234	77793234	A	G	ncRNA_intronic	RNU6-83P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr8	139241091	139241091	C	T	intronic	FAM135B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-	-	ICGC,
chr7	149342744	149342744	G	C	intergenic	ZNF767P,KRBA1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	ICGC,
chr22	49564498	49564498	C	T	intergenic	LINC01310,NONE	unknown	SNV	-	-	-	3.24e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr6	127477375	127477375	T	C	intronic	RSPO3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	-	ICGC,
chr2	222241686	222241686	C	T	intergenic	MIR4268,EPHA4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,reproductive system phenotype	-,Amyotrophic lateral sclerosis, reduced disease severity	ICGC,
chr3	18750142	18750142	G	T	intergenic	SATB1,KCNH8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging,-	-,-	ICGC,
chr13	102093008	102093008	G	A	intergenic	NALCN,ITGBL1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8771641	-	OV-AU|1|93|0.01075	-	-	mortality/aging,-	Cardiovascular malformations|Facial dysmorphism, hypotonia, speech impairment, constipation and intellectual disability|Infantile neuroaxonal dystrophy with facial dysmorphism|Schizophrenia,-	COSMIC,ICGC,
chr13	87176841	87176841	T	G	intergenic	SLITRK6,MIR4500HG	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,-	High myopia and sensorineural deafness,-	ICGC,
chr9	8917783	8917783	G	A	intronic	PTPRD	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	integument phenotype	Restless legs syndrome, association with|Ewing sarcoma	ICGC,
chr21	34144236	34144260	AGAGAGAGAGAGAGAGAGAGAGAGC	-	upstream	C21orf49,PAXBP1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|2|100|0.02000	-	-	-,-	-,-	ICGC,
chr1	81476960	81476960	-	AAAAACAAAACAAAA	intergenic	ELTD1,LPHN2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|2|67|0.02985	-	-	normal phenotype,mortality/aging	-,Schizophrenia	ICGC,
chr21	41711255	41711255	G	T	exonic	DSCAM	nonsynonymous	SNV	0.096	1.0	-	-	-	-	-	-	-	-	HNSC|1|512|0.00195	LICA-CN|1|402|0.00249	-	-	mortality/aging	Bipolar disorder, association with 	TCGA,ICGC,
chr7	31704767	31704767	T	C	intergenic	CCDC129,PPP1R17	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,vision/eye phenotype	-,-	ICGC,
chr1	36100473	36100473	C	T	intronic	PSMB2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-	-	ICGC,
chr4	94523590	94523590	G	T	intronic	GRID2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19277043	-	CLLE-ES|1|510|0.00196	-	-	mortality/aging	Cerebellar ataxia & tonic upgaze|Cerebellar ataxia and atrophy|Schizophrenia|Spastic paraplegia, complicated	COSMIC,ICGC,
chr9	16022363	16022363	G	A	intergenic	CCDC171,C9orf92	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Potential protein deficiency,-	ICGC,
chr16	46703212	46703212	C	T	intronic	VPS35	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging	Parkinson disease, late-onset, autosomal dominant |Parkinson disease |Lewy body disorder|Epilepsy & neurodevelopment delay	ICGC,
chr8	108206137	108206137	G	A	intergenic	ABRA,ANGPT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	cardiovascular system phenotype,mortality/aging	-,Stroke, reduced risk, association with	ICGC,
chr6	142552188	142552188	T	A	intergenic	VTA1,GPR126	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,mortality/aging	-,-	ICGC,
chr16	681203	681203	C	T	UTR5	WFIKKN1	unknown	SNV	-	-	0.0048	0.0058	rs374542712	0.0040	0.000599042	0.0053	-	COSN17078014	-	-	-	-	-	-	COSMIC,
chr8	121456560	121456560	A	G	intronic	MRPL13	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr8	112362729	112362729	T	C	intergenic	KCNV1,CSMD3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	behavior/neurological phenotype,-	-,Schizophrenia  |Colorectal cancer 	ICGC,
chr1	103175675	103175675	C	T	intergenic	OLFM3,COL11A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,mortality/aging	-,Stickler syndrome, type 2|Stickler syndrome|Robin sequence |Osteoarthritis, early-onset|Marshall syndrome|Marshall / Stickler syndrome|Lumbar disc herniation, association with|Fibrochondrogenesis|Deafness  	ICGC,
chr7	27444101	27444101	C	A	intergenic	EVX1-AS,HIBADH	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr2	87647046	87647046	C	G	intergenic	LOC285074,LINC00152	unknown	SNV	-	-	-	0.0007	rs201827999	-	-	-	-	COSN24585423	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	COSMIC,ICGC,
chr4	965812	965812	G	T	intronic	DGKQ	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-	-	ICGC,
chr3	172290401	172290401	A	T	intergenic	TNFSF10,NCEH1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging,immune system phenotype	Breast cancer, association with|Potential protein deficiency,-	ICGC,
chr1	102630551	102630551	T	A	intergenic	OLFM3,COL11A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	-,mortality/aging	-,Stickler syndrome, type 2|Stickler syndrome|Robin sequence |Osteoarthritis, early-onset|Marshall syndrome|Marshall / Stickler syndrome|Lumbar disc herniation, association with|Fibrochondrogenesis|Deafness  	ICGC,
chr4	96256578	96256578	C	T	exonic	UNC5C	nonsynonymous	SNV	0.29	0.001	-	-	-	-	-	-	-	COSM6442191	-	-	-	-	mortality/aging	Colorectal cancer  |Reduced proapoptotic activity	COSMIC,
chrX	32154252	32154252	A	T	intronic	DMD	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging	Muscular dystrophy, Duchenne & Charcot-Marie-Tooth disease|Muscular dystrophy, Duchenne & autism|Muscular dystrophy, Duchenne|Muscular dystrophy, Becker.|Muscular dystrophy, Becker with cognitive impairment|Muscular dystrophy, Becker|Muscular dystrophy, Duchenne-like|Muscular dystrophy, Duchenne, epilepsy, macroglossia and mental retardation|Muscular dystrophy, Duchenne.|Muscular dystrophy, Duchenne/Becker|Muscular dystrophy, intermediate|Myopathy  |Potential protein deficiency|Schizophrenia|Muscular dystrophy, atypical|Muscular dystrophy & intellectual disability|Muscular dystrophy|Autism & neuromotor delay|Autism spectrum disorder|Behavioural issues|Cardiomyopathy, dilated|Cardiomyopathy, dilated, X-linked|Cardiomyopathy, dilated.|Dystrophinopathy|Elevated creatine kinase level|Mild Becker muscular dystrophy|Mental retardation, X-linked|Isolated cardiomyopathy|Increased serum creatine kinase levels|Global developmental delay/intellectual disability|Exertional myalgia, muscle stiffness & myoglobinuria	ICGC,
chr9	119790799	119790799	A	T	intronic	ASTN2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Autism spectrum disorder |Intellectual disability  |Schizophrenia  	ICGC,
chr7	89656622	89656622	-	A	ncRNA_intronic	STEAP2-AS1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-	-	ICGC,
chr12	69130830	69130830	C	T	intronic	NUP107	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr4	33793949	33793949	T	G	intergenic	NONE,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16881538	-	ESAD-UK|1|301|0.00332,PACA-CA|1|268|0.00373	-	-	-,-	-,-	COSMIC,ICGC,
chr3	137504753	137504753	G	A	intergenic	LINC01210,CLDN18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr19	22730336	22730336	C	A	intergenic	LINC01233,GOLGA2P9	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN138544	-	-	-	-	-,-	-,-	COSMIC,
chr3	179685873	179685873	T	C	intronic	PEX5L	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	behavior/neurological phenotype	-	ICGC,
chr3	144287450	144287450	G	A	intergenic	C3orf58,PLOD2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Bruck syndrome	ICGC,
chr15	29310665	29310665	G	A	intronic	APBA2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	mortality/aging	Autism |Schizophrenia	ICGC,
chr8	14983853	14983853	A	T	intronic	SGCZ	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15816323	-	LIRI-JP|1|258|0.00388	-	-	-	Cervical artery dissection	COSMIC,ICGC,
chr20	8340942	8340942	G	A	intronic	PLCB1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Wolff-Parkinson-White syndrome|Schizophrenia  |Malignant migrating partial seizures in infancy|Epileptic encephalopathy, severe infantile|Epileptic encephalopathy, early onset|Atrioventricular septal defects	ICGC,
chr5	33690044	33690044	C	T	intronic	ADAMTS12	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	cardiovascular system phenotype	-	ICGC,
chr10	107000728	107000728	C	T	intronic	SORCS3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr10	88024991	88024991	A	T	intronic	GRID1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16016455	-	PACA-CA|1|268|0.00373	-	-	skeleton phenotype	Autism spectrum disorder, association with	COSMIC,ICGC,
chr7	62352816	62352816	G	A	intergenic	NONE,ZNF733P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	48668456	48668456	C	G	exonic	SLC26A6	synonymous	SNV	-	-	-	-	-	-	-	-	-	-	BLCA|1|396|0.00253	-	-	-	digestive/alimentary phenotype	Reduced oxalate transport activity	TCGA,
chr2	9363772	9363772	C	T	intronic	ASAP2	unknown	SNV	-	-	-	3.229e-05	-	-	-	-	-	COSN17801102	-	ESAD-UK|1|301|0.00332	-	-	-	Schizophrenia  	COSMIC,ICGC,
chr9	46837855	46837855	G	A	intergenic	LINC01189,NONE	unknown	SNV	-	-	-	0.0002	rs2321261	-	-	-	-	COSN24037036	-	BRCA-FR|1|72|0.01389	-	-	-,-	-,-	COSMIC,ICGC,
chr3	194181473	194181473	G	A	exonic	ATP13A3	nonsynonymous	SNV	1.0	0.066	4.075e-06	-	-	-	-	-	-	-	-	GBM-US|1|276|0.00362	-	-	-	-	ICGC,
chr11	49328416	49328416	G	A	intergenic	FOLH1,LOC440040	unknown	SNV	-	-	-	-	rs572524036	-	0.000199681	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,-	Reduced serum folate|Prostate cancer, protection against, association|Prostate cancer, association with |Increased risk of CAD & miscarriage and reduced risk of autism & cancer, association with|Increased plasma folate levels, association with|Altered plasma folate concentration, association with,-	ICGC,
chr13	38728121	38728121	T	G	intergenic	LINC00571,UFM1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr18	67758265	67758265	G	A	intronic	RTTN	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Polymicrogyria  	ICGC,
chr3	98765936	98765936	T	C	intergenic	DCBLD2,MIR548G	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Anorectal malformation,-	ICGC,
chr11	23092873	23092873	T	-	intergenic	CCDC179,MIR8054	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	EOPC-DE|1|202|0.00495	-	-	-,-	-,-	ICGC,
chr12	34767067	34767067	G	A	intergenic	ALG10,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr11	44964993	44964993	A	G	intronic	TP53I11	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-	-	ICGC,
chr2	173446245	173446245	G	A	intronic	PDK1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	skeleton phenotype	-	ICGC,
chr7	40954587	40954587	A	C	intergenic	SUGCT,LINC01450	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr1	91499254	91499254	G	T	intergenic	ZNF644,HFM1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21218283	-	BRCA-EU|1|569|0.00176	-	-	-,-	High myopia |Myopia,Primary ovarian insufficiency	COSMIC,ICGC,
chr8	24182479	24182479	G	A	intronic	ADAM28	unknown	SNV	-	-	-	0.0010	rs146971364	-	0.000998403	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr5	107397456	107397456	T	C	intronic	FBXL17	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-	-	ICGC,
chr2	20256679	20256679	A	-	intergenic	LAPTM4A,SDC1	unknown	deletion	-	-	-	-	-	-	-	-	-	COSN27992576	-	ESAD-UK|1|301|0.00332,LIRI-JP|1|258|0.00388	-	-	-,integument phenotype	-,-	COSMIC,ICGC,
chr20	60981243	60981243	G	T	intronic	CABLES2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr8	62563324	62563324	C	T	intronic	ASPH	unknown	SNV	-	-	-	0.0022	rs112000707	-	0.00119808	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Autism spectrum disorder|Facial dysmorphism, lens dislocation, anterior-segment abnormalities & Traboulsi syndrome	ICGC,
chr7	30538021	30538021	A	G	intronic	GGCT	unknown	SNV	-	-	-	0.0008	rs550017876	-	0.000399361	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	-	ICGC,
chr8	105956251	105956251	G	T	intergenic	LRP12,ZFPM2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Atrial septal defect & gonadal dysgenesis|Diaphragmatic hernia, congenital|Double outlet right ventricle |Gonadal dysgenesis |Reduced activity|Tetralogy of Fallot 	ICGC,
chr13	81823926	81823926	G	A	intergenic	SPRY2,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,-	Cleft lip ,-	ICGC,
chr2	229318008	229318008	C	T	intergenic	SPHKAP,PID1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,Anorectal malformation	ICGC,
chr18	34298368	34298368	C	T	exonic	FHOD3	nonsynonymous	SNV	0.003	0.996	4.598e-06	-	-	-	-	-	-	COSM5607401	-	-	-	-	mortality/aging	Cardiomyopathy, dilated|Cardiomyopathy, hypertrophic, association with	COSMIC,
chr7	85720756	85720756	G	T	intergenic	SEMA3D,GRM3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,behavior/neurological phenotype	Total anomalous pulmonary venous connection|Tetralogy of Fallot|Hirschsprung disease   ,Schizophrenia, association with|Major depressive disorder, association with	ICGC,
chrX	104036320	104036320	A	T	intronic	IL1RAPL2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25259435	-	MALY-DE|1|241|0.00415	-	-	-	-	COSMIC,ICGC,
chr6	32847661	32847661	G	A	intergenic	PSMB9,LOC100294145	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7870823	-	PACA-AU|1|391|0.00256	-	-	hematopoietic system phenotype,-	Multiple sclerosis, reduced risk, association with|Essential hypertension, association with|Colorectal cancer, increased risk, association with,-	COSMIC,ICGC,
chr3	104986390	104986390	A	G	intergenic	MIR548A3,ALCAM	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1903842	-	LIRI-JP|1|258|0.00388	-	-	-,vision/eye phenotype	-,Breast cancer, increased risk, association with  |Schizophrenia	COSMIC,ICGC,
chr13	36323049	36323049	T	A	ncRNA_intronic	MIR548F5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-	-	ICGC,
chr4	71236610	71236610	A	C	intergenic	SMR3A,SMR3B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr15	94207591	94207591	T	C	intergenic	RGMA,LOC101927153	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6077084	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging,-	Autism,-	COSMIC,ICGC,
chr11	73835820	73835820	A	G	intronic	C2CD3	unknown	SNV	-	-	-	0.3121	rs11608147	-	0.284145	-	0.283	-	-	ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488	-	-	mortality/aging	Autism spectrum disorder  |Potential protein deficiency	ICGC,
chr8	32209431	32209431	G	A	intronic	NRG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Sudden cardiac death, association with|Schizophrenia, association with  |Schizophrenia in African Americans, association with|Prepulse inhibition, association with|Perceptual aberration of schizotypal personality, association with|Increased lateral ventricle volume in schizophrenia|Hirschsprung disease|Developmental delay, hypotonia & microcephaly|Alzheimers disease, association with	ICGC,
chr9	122798937	122798937	C	T	intergenic	BRINP1,MIR147A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr7	118403899	118403899	C	T	intergenic	ANKRD7,KCND2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,integument phenotype	-,Epilepsy, temporal lobe	ICGC,
chr5	84734268	84734268	-	AAAA	intergenic	EDIL3,NBPF22P	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|2|67|0.02985	-	-	immune system phenotype,-	Schizophrenia  ,-	ICGC,
chr8	77183661	77183661	G	T	intergenic	HNF4G,LINC01111	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8101538	-	PACA-AU|1|391|0.00256	-	-	respiratory system phenotype,-	-,-	COSMIC,ICGC,
chr21	29981446	29981446	C	T	intergenic	LINC00161,N6AMT1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN10025103	-	RECA-EU|1|422|0.00237	-	-	-,mortality/aging	-,-	COSMIC,ICGC,
chr1	228940850	228940850	A	G	intergenic	RHOU,RAB4A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chrX	122561913	122561913	A	G	exonic	GRIA3	nonsynonymous	SNV	-	0.001	1.124e-05	-	-	-	-	-	-	-	-	-	not_specified	-	integument phenotype	Mental retardation, X-linked|Intellectual disability, X-linked with facial dysmorphism|Intellectual disability, X-linked|Autism spectrum disorder	ClinVar,
chr3	130096794	130096794	T	G	intronic	COL6A5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	Atopic dermatitis, association with	ICGC,
chr2	165199071	165199071	T	-	intergenic	FIGN,GRB14	unknown	deletion	-	-	-	3.263e-05	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,hematopoietic system phenotype	-,-	ICGC,
chr13	90500250	90500250	A	G	intergenic	LINC00353,LINC00559	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15679181	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr17	50164932	50164932	G	A	intronic	CA10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Schizophrenia	ICGC,
chr18	62795560	62795560	C	T	intergenic	LOC284294,CDH7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr6	78636587	78636587	A	T	intergenic	MEI4,IRAK1BP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,no phenotypic analysis	-,-	ICGC,
chr5	114019127	114019127	C	T	intergenic	KCNN2,TRIM36	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	-,-	ICGC,
chr1	205838704	205838704	C	T	ncRNA_intronic	LOC284581	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr7	45269824	45269824	G	A	intergenic	RAMP3,ADCY1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	growth/size phenotype,integument phenotype	-,-	ICGC,
chr5	27775572	27775572	T	C	intergenic	LINC01021,LSP1P3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2513702	-	-	-	-	-,-	-,-	COSMIC,
chr5	134277978	134277978	G	A	intronic	PCBD2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr3	109387712	109387712	T	C	intergenic	LINC01205,PVRL3-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr18	7310490	7310490	G	T	intergenic	LRRC30,PTPRM	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,cardiovascular system phenotype	-,Potential protein deficiency	ICGC,
chr4	33926388	33926388	A	C	intergenic	NONE,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8376285	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	COSMIC,ICGC,
chr9	28701507	28701507	T	C	intronic	LINGO2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	Autism spectrum disorder  |Developmental delay with absent speech	ICGC,
chr4	137732227	137732227	C	A	intergenic	LINC00613,PCDH18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,Intellectual disability  	ICGC,
chr12	23273425	23273425	C	T	intergenic	ETNK1,LOC101928441	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	27776936	27776936	G	A	intergenic	LINC01021,LSP1P3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr11	81716364	81716364	G	A	ncRNA_intronic	LOC101928989	unknown	SNV	-	-	-	3.23e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr10	108966471	108966471	T	C	intergenic	SORCS1,RNU6-53P	unknown	SNV	-	-	-	3.228e-05	-	-	-	-	-	COSN23098219	-	MALY-DE|1|241|0.00415	-	-	other phenotype,-	Autism ,-	COSMIC,ICGC,
chr3	119204190	119204190	G	T	exonic	POGLUT1	nonsynonymous	SNV	0.173	0.997	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	mortality/aging	Dowling-Degos disease	ICGC,
chr20	59895177	59895177	G	A	intronic	CDH4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CN|1|65|0.01538	-	-	cellular phenotype	Reduced expression	ICGC,
chr17	36099920	36099920	G	A	intronic	HNF1B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging	Pancreatic agenesis and multicystic renal dysplasia|Pancreas hypoplasia & multicystic renal dysplasia|Nephropathy |Multicystic kidney disease|Multicystic dysplastic kidney.|MODY, renal dysfunction, genital malformation|Mayer-Rokitansky-Küster-Hauser syndrome |Kidney and urinary tract abnormalities (CAKUT).|Kidney and urinary tract abnormalities (CAKUT)|Pancreatic hypoplasia and multicystic renal dysplasia|Polycystic thyroid and urogenital malformations|Potential protein deficiency|Uterine and renal malformations|Tetralogy of Fallot|Renal tract malformation|Renal hypodysplasia|Renal disease |Renal cysts and diabetes.|Renal cysts and diabetes syndrome|Renal cysts and diabetes|Renal carcinoma|Juvenile hyperuricemic nephropathy, familial|Hypomagnesemia  |Diabetes, early onset, renal dysfunction|Diabetes, early onset, association |Diabetes mellitus, type 2|Cystic renal disease|Cholestatic jaundice|Bilateral renal hypodysplasia|Autism and schizophrenia|Antenatal hyperechogenic kidneys |Abdominal muscles, absence, with urinary tract anomalies & cryptorchidism|Diabetes, early-onset, renal dysfunction & struct abnormalities|Diabetes, early-onset, structural abnormalities|Diabetes, MODY|Hyperuricaemic nephropathy|Hyperparathyroidism|Hyperechogenic kidneys|Hypercholesterolaemia|GCKD with early-onset diabetes|Enlarged nephrons and severe nondiabetic nephropathy|Diabetic nephropathy|Diabetes, type 2, association with|Diabetes, MODY5  	ICGC,
chr21	25497087	25497087	T	G	intergenic	D21S2088E,LOC101927869	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr8	87216485	87216485	G	T	intergenic	ATP6V0D2,SLC7A13	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN14525787	-	PACA-AU|1|391|0.00256	-	-	hematopoietic system phenotype,-	-,-	COSMIC,COSMIC,ICGC,
chr3	96309665	96309665	C	G	intergenic	MIR8060,EPHA6	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7718683	-	PAEN-AU|1|52|0.01923	-	-	-,behavior/neurological phenotype	-,Alzheimer disease  	COSMIC,COSMIC,ICGC,
chr4	107370824	107370824	A	G	intergenic	GIMD1,DKK2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,hematopoietic system phenotype	-,Schizophrenia, association with  	ICGC,
chr11	16902703	16902703	C	T	intronic	PLEKHA7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-	-	ICGC,
chr3	140152726	140152726	G	A	intronic	CLSTN2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Improved memory performance, association with	ICGC,
chr6	14906360	14906360	C	A	intergenic	LINC01108,JARID2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN14850423	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,Cognitive impairment, gait disturbance & characteristic facial appearance|Cognitive impairment, gait disturbance, characteristic facial appearance, intellectual disability & behavioural abnormalities|Schizophrenia	COSMIC,ICGC,
chr18	62268074	62268074	T	C	intergenic	LOC284294,CDH7	unknown	SNV	-	-	-	0.0006	rs559874725	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr8	77328005	77328005	T	A	ncRNA_intronic	LINC01111	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr5	143845301	143845301	C	T	intronic	KCTD16	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr9	83538917	83538917	T	C	intergenic	LOC101927477,TLE1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17986632	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	COSMIC,ICGC,
chr7	105871895	105871895	C	T	intergenic	SYPL1,NAMPT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Reduced expression|Lower plasma levels of visfatin, association with|Coronary artery disease, reduced risk, association with	ICGC,
chrX	153053319	153053319	G	A	exonic	IDH3G	nonsynonymous	SNV	0.0	1.0	-	-	-	-	-	-	-	COSM1466623	COAD|1|367|0.00272,COADREAD|1|489|0.00204	COAD-US|1|254|0.00394	-	-	-	-	COSMIC,TCGA,ICGC,
chr5	8381453	8381453	C	T	ncRNA_intronic	LOC729506	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr7	144220093	144220093	C	T	intronic	TPK1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Thiamine pyrophosphokinase deficiency|Leigh-like disease|Colorectal cancer, increased risk, association with |Autism	ICGC,
chr3	164329740	164329740	-	CCAC	intergenic	LINC01192,SI	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,Sucrase isomaltase deficiency	ICGC,
chr1	45722336	45722336	T	G	intergenic	ZSWIM5,LINC01144	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr5	2573432	2573432	A	T	intergenic	LOC100506858,IRX2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2097170	-	LIRI-JP|1|258|0.00388	-	-	-,normal phenotype	-,-	COSMIC,ICGC,
chr9	114135034	114135034	G	A	intronic	KIAA0368	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr13	86045160	86045160	A	G	ncRNA_intronic	LINC00351	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr11	2526164	2526164	G	A	intronic	KCNQ1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	QT interval prolongation|Noise-induced hearing loss, susceptibility to, association|Long QT syndrome.|Long QT syndrome, modifier of|Long QT syndrome & atrial fibrillation|Long QT syndrome|Jervell and Lange-Nielsen syndrome.|Reduced triglyceride levels, association with|Romano-Ward and incomplete Jervell Lange-Nielsen syndromes|Romano-Ward syndrome|Short QT syndrome|Short QT syndrome.|Sinus bradycardia, familial atrial fibrillation and long QT syndrome.|Stressful life events associated with arrhythmic events in LQTS p|Sudden infant death syndrome|Sudden unexplained death  |Jervell and Lange-Nielsen syndrome without sensorineural deafness|Jervell and Lange-Nielsen syndrome|Altered channel function|Atrial fibrillation|Atrial fibrillation and bradycardia|Atrial fibrillation and Long QT syndrome.|Atrial fibrillation, lone, early-onset|Atrial fibrillation, lone, early-onset.|Atrial fibrillation, susceptibility to |Atrial fibrillation.|Beckwith-Wiedemann syndrome|Increased risk of unexplained sudden death in patients administered psychotropic drug therapy|Hyperinsulinaemia and symptomatic hypoglycaemia, with long QT syndrome.|Diabetes, type 2, increased risk, association  |Deafness  |Cardiomyopathy, hypertrophic.|Cardiac defects|Beckwith-Wiedemann syndrome & long QT syndrome	ICGC,
chr13	38684235	38684235	G	A	ncRNA_intronic	LINC00571	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|3|183|0.01639	-	-	-	-	ICGC,
chr8	47079492	47079492	A	C	intergenic	NONE,LINC00293	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr5	25752093	25752093	C	T	intergenic	LOC340107,CDH9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr4	132762267	132762267	G	A	intergenic	NONE,PCDH10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,mortality/aging	-,Schizophrenia|Potential protein deficiency	ICGC,
chr9	99150605	99150605	G	C	exonic	ZNF367	nonsynonymous	SNV	0.074	0.744	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr17	51902063	51902063	A	T	exonic	KIF2B	nonsynonymous	SNV	0.374	0.023	-	-	-	-	-	-	-	-	-	GACA-JP|1|585|0.00171	-	-	-	-	ICGC,
chr21	21675772	21675772	-	T	intergenic	LOC101927797,LINC00320	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr7	72873004	72873004	C	A	intronic	BAZ1B	unknown	SNV	-	-	-	0.0019	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging	-	ICGC,
chr7	48634343	48634343	G	A	exonic	ABCA13	nonsynonymous	SNV	0.001	0.983	0.0001	6.456e-05	rs563046033	0.0001	0.000399361	-	-	COSM1666453	-	-	-	-	-	Schizophrenia / depression|Schizophrenia / bipolar disorder / depression |Schizophrenia  |Bipolar disorder  |Autism|Anorectal malformation	COSMIC,COSMIC,
chr9	82478279	82478279	C	A	ncRNA_intronic	LOC101927477	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-	-	ICGC,
chr19	50145221	50145221	C	T	upstream	SCAF1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr11	10517150	10517150	C	T	exonic	AMPD3	stopgain	SNV	-	-	-	-	-	-	-	-	-	COSM4890822	-	ORCA-IN|1|178|0.00562	-	-	hematopoietic system phenotype	Adenosine monophosphate deaminase deficiency	COSMIC,ICGC,
chr22	34314878	34314878	GG	AA	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr13	79216355	79216355	-	A	intronic	RNF219	unknown	insertion	-	-	4.732e-06	-	-	-	-	-	-	-	-	BTCA-SG|3|71|0.04225	-	-	-	-	ICGC,
chr22	21295559	21295559	C	T	intronic	CRKL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	integument phenotype	Ventricular septal defect|Tetralogy of Fallot|Subaortic stenosis|Congenital heart defect  |Cardiac malformations|Atrioventricular septum defects	ICGC,
chr1	34164007	34164007	T	C	intronic	CSMD2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	Schizophrenia	ICGC,
chr14	106718270	106718270	C	T	intergenic	ADAM6,LINC00226	unknown	SNV	-	-	-	7.598e-05	rs537318258	-	0.000399361	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	-,-	-,-	ICGC,
chr13	35788680	35788680	T	C	intronic	NBEA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	integument phenotype	Autism, idiopathic|Schizophrenia|Tetralogy of Fallot	ICGC,
chr7	10713541	10713541	C	T	intergenic	PER4,NDUFA4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Complex I deficiency|Cytochrome c oxidase deficiency	ICGC,
chr2	67760551	67760551	G	A	intergenic	ETAA1,LOC101927701	unknown	SNV	-	-	-	0.0003	-	-	-	-	0.007	-	-	LICA-CN|1|402|0.00249	-	-	-,-	-,-	ICGC,
chr1	177275913	177275913	C	T	intergenic	BRINP2,LOC101928778	unknown	SNV	-	-	-	0.1083	rs77647867	-	0.095647	-	0.087	-	-	LAML-KR|1|205|0.00488	-	-	-,-	-,-	ICGC,
chr5	138210171	138210171	G	T	exonic	LRRTM2	nonsynonymous	SNV	0.114	0.93	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr9	13076469	13076469	C	T	intergenic	LURAP1L,MPDZ	unknown	SNV	-	-	-	3.234e-05	-	-	-	-	-	COSN25950783	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,Retinitis pigmentosa |Leber congenital amaurosis  |Hydrocephalus|Autism	COSMIC,ICGC,
chr2	141254707	141254707	C	T	intronic	LRP1B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Schizophrenia   	ICGC,
chrX	55982644	55982644	-	TATC	intergenic	RRAGB,KLF8	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,embryogenesis phenotype	-,Intellectual disability, absent speech & behavioural problems|Mental retardation, non-syndromic |Potential protein deficiency	ICGC,
chr9	120214695	120214695	C	T	intergenic	ASTN2,LOC101928797	unknown	SNV	-	-	-	0.0002	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	Autism spectrum disorder |Intellectual disability  |Schizophrenia  ,-	ICGC,
chr8	5261857	5261857	A	T	intergenic	CSMD1,LOC100287015	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	Schizophrenia, association with |Hyperinsulinism|Autism|Attention deficit hyperactivity disorder ,-	ICGC,
chr18	25150070	25150070	A	C	intergenic	CHST9,CDH2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	-,mortality/aging	-,Reduced expression|Potential protein deficiency|Alzheimer disease  	ICGC,
chr11	797352	797352	G	C	intronic	SLC25A22	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	Epileptic encephalopathy, neonatal|Migrating partial seizures of infancy|Myoclinic epilepsy, neonatal	ICGC,
chr6	95065393	95065393	G	A	intergenic	TSG1,MANEA-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr20	24447594	24447594	G	A	intergenic	FLJ33581,SYNDIG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr14	94706663	94706663	A	G	intronic	PPP4R4	unknown	SNV	-	-	-	0.1489	rs1956165	-	0.146765	-	0.167	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr11	18754498	18754498	G	A	intronic	PTPN5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	nervous system phenotype	-	ICGC,
chr4	89526953	89526953	G	A	UTR5	HERC3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	integument phenotype	-	ICGC,
chr2	229228758	229228758	C	T	intergenic	SPHKAP,PID1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Anorectal malformation	ICGC,
chr19	57943259	57943259	T	C	intergenic	ZNF17,ZNF749	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8977003	-	OV-AU|1|93|0.01075	-	-	-,-	-,-	COSMIC,ICGC,
chr16	24397389	24397389	G	A	intergenic	CACNG3,RBBP6	unknown	SNV	-	-	-	0	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging,mortality/aging	-,-	ICGC,
chr16	26802703	26802703	G	A	intergenic	HS3ST4,C16orf82	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr15	54400506	54400506	C	T	intronic	UNC13C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	Developmental delay  	ICGC,
chr10	48007958	48007958	A	T	intergenic	ANXA8L1,CTSLP2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21681106	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr22	40058001	40058001	G	T	exonic	CACNA1I	unknown	SNV	0.025	0.782	-	-	-	-	-	-	-	COSM5657856	-	-	-	-	-	Schizophrenia  	COSMIC,COSMIC,COSMIC,COSMIC,
chr8	86305642	86305642	C	T	intergenic	CA1,CA3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538,MELA-AU|1|183|0.00546	-	-	-,muscle phenotype	Carbonic anhydrase deficiency,-	ICGC,
chr3	155523883	155523883	G	T	intronic	C3orf33	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr13	88668914	88668914	A	G	intergenic	LINC00397,LINC00433	unknown	SNV	-	-	-	0.4592	rs6491809	-	0.510982	-	0.609	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr5	159372316	159372316	G	A	intronic	ADRA1B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23323910	-	GACA-CN|1|123|0.00813,MALY-DE|1|241|0.00415	-	-	mortality/aging	-	COSMIC,COSMIC,ICGC,
chr15	82100475	82100475	G	A	intergenic	LOC101929655,MEX3B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr11	38490042	38490042	T	C	intergenic	C11orf74,LOC103312105	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22493578	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr10	43825880	43825880	G	C	intergenic	RASGEF1A,FXYD4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,behavior/neurological phenotype	-,-	ICGC,
chr17	70345589	70345589	C	T	intergenic	SOX9,LINC00673	unknown	SNV	-	-	-	-	rs561380776	-	0.000199681	-	-	-	-	PBCA-US|1|186|0.00538	-	-	integument phenotype,-	Female-to-male ovotesticular disorder of sex development|Gonadal dysgenesis |Male-to-female disorder of sex development|Pierre Robin sequence|Pierre Robin sequence & hypoplastic left scapula|Prostate cancer, association with |Robin sequence, hypoplastic scapulae & rib anomalies|XY gonadal dysgenesis|XY sex reversal  |Disorder of sex development without campomelic dysplasia|Campomelic dysplasia with XY reversal|46,XX developmental testicular disorder|46,XX, SRY negative infertility|Acampomelic campomelic dysplasia|Acampomelic campomelic dysplasia with true hermaphroditism|Acampomelic campomelic dysplasia with XY reversal|Altered transcription factor binding|Brachydactyly-anonychia|Campomelic dysplasia|Campomelic dysplasia with small patella syndrome,-	ICGC,
chr6	33530446	33530446	-	GTTT	intergenic	ZBTB9,BAK1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,mortality/aging	-,-	ICGC,
chr3	180443903	180443903	C	T	ncRNA_intronic	LOC101928882	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr1	60377537	60377537	C	T	intronic	CYP2J2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	-	Lower arachidonic & linoleic acid metabolism|Loss of enzyme activity|Hypertension, in females, association with|Hypertension, association with|Essential hypertension, association with|Coronary artery disease, association with|Asthma, association with|Lower arachidonic acid metabolism	ICGC,
chr10	122916207	122916207	A	G	intergenic	MIR5694,FGFR2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1474230	-	LIRI-JP|1|258|0.00388	-	-	-,integument phenotype	-,Crouzon syndrome with ventricular septal defect.|Crouzon syndrome, atypical|Crouzon syndrome.|Hypospadias |Jackson-Weiss syndrome|Lacrimo-auriculo-dento-digital syndrome|Pfeiffer syndrome|Pfeiffer syndrome, Crouzon syndrome.|Pfeiffer syndrome.|Reduced transcription|Saethre-Chotzen syndrome|Saethre-Chotzen-like|Crouzon syndrome with atrial septal defect.|Crouzon syndrome|Antley-Bixler syndrome|Antley-Bixler, Beare-Stevenson & Pfeiffer syndromes|Apert syndrome|Beare-Stevenson cutis gyrata syndrome|Bent bone dysplasia |Breast cancer, association with.|Breast cancer, increased risk, association with|Breast cancer, reduced risk, association with|Cleft lip and palate|Cleft lip, non-syndromic |Craniosynostosis|Craniosynostosis, predisposition to 	COSMIC,ICGC,
chr11	71887198	71887198	-	T	intergenic	FOLR3,FOLR1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,mortality/aging	-,Neural tube defects|Hyperhomocysteinaemia |Folate receptor deficiency|Folate receptor alpha defect with cerebral folate deficiency|Cerebral folate transport deficiency	ICGC,
chr5	143651276	143651276	C	T	intronic	KCTD16	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr3	117753617	117753617	G	A	intergenic	LINC00901,IGSF11	unknown	SNV	-	-	-	-	rs865971101	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr1	97078792	97078792	G	A	intergenic	LOC101928241,PTBP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|4|183|0.02186	-	-	-,mortality/aging	-,-	ICGC,
chr21	29831060	29831060	T	C	intergenic	LINC00314,LINC00161	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr6	134022593	134022593	C	T	ncRNA_intronic	EYA4-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr8	78836819	78836819	T	G	intergenic	PEX2,PKIA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,normal phenotype	Zellweger syndrome|Refsum disease, infantile|Peroxisome biogenesis disorder|Cerebellar ataxia, autosomal recessive,-	ICGC,
chr4	19022574	19022574	C	T	intergenic	LCORL,SLIT2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,mortality/aging	-,Schizophrenia  	ICGC,
chr22	24026235	24026235	G	A	ncRNA_intronic	GUSBP11	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr8	119865893	119865893	G	A	intergenic	SAMD12-AS1,TNFRSF11B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Travellers diarrhea, association with|Spine bone mineral density, reduced, in postmenopausal women, association with|Periodontitis, association with|Paget disease, juvenile|Paget disease|Osteoporotic fractures, association with|Ischemic stroke, association with|Increased lumbar spine BMD in adolescent idiopathic scoliosis, association with|Altered splicing  |Bone mineral density in men, association with|Coronary artery disease, association with|Decreased bone mineral density, association |Increased intima-media thickness, association	ICGC,
chrX	49179682	49179682	C	T	exonic	GAGE12J	stopgain	SNV	-	-	0	-	rs782750532	0	-	-	-	-	CHOL|1|35|0.02857	-	-	-	-	-	TCGA,
chr5	8821928	8821928	G	A	intergenic	MIR4458HG,LOC101929284	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16308706	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr10	5838789	5838789	C	T	exonic	GDI2	nonsynonymous	SNV	0.413	0.004	1.626e-05	6.455e-05	rs755557916	8.244e-06	-	-	-	-	-	LUSC-KR|2|170|0.01176	-	-	-	-	ICGC,
chrX	145648303	145648303	G	A	intergenic	MIR891A,CXorf51A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr2	123580586	123580586	A	C	intergenic	TSN,CNTNAP5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	hematopoietic system phenotype,-	-,Autism	ICGC,
chr1	66180708	66180708	A	G	intergenic	LEPR,PDE4B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,mortality/aging	Obesity, childhood onset |Obesity, association with.|Obesity, association with|Obesity-related traits, association with|Obesity|Non-small cell lung cancer, association ith|Obesity, early onset|Obesity, early-onset|Obesity, morbid|Obstructive sleep apnea, association with|Oral cancer, association with|Plasma leptin levels + BMI in obesity, association with|Polycystic ovary syndrome, association with|Reduced serum insulin in obese subjects|Weight loss due to dieting in overweight women, association|Neural tube defects, association with|Metabolic syndrome, association with|Menarche, earlier onset, association with|Altered carbohydrate metabolism|Atherosclerosis, early onset, association with|Breast cancer, association with|Breast cancer, association with.|Bronchitis, chronic, association with.|Churg-Strauss syndrome, association with|Entamoeba histolytica, susceptibility, association with|Higher body mass index, association with|Higher leptin levels and preeclampsia, association with|Increased birth weight, association with|Increased proinflammatory state and stress condition in obesity, association with|Insulin, HOMA, and leptin levels in males, association with|Leptin changes after high monounsaturated fat diet, association withrated|Leptin levels and insulin resistance in patients with NAFLD, assocition with|Lower postprandial lipaemic response in males, association with,Psychiatric disorder |Schizophrenia	ICGC,
chr1	239540617	239540617	A	T	intergenic	LINC01139,CHRM3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,vision/eye phenotype	-,Autistic disorder|Bladder malformation|Diabetes, type 2, increased risk, association |Tetralogy of Fallot	ICGC,
chr17	69569841	69569841	A	-	intergenic	CASC17,LOC102723505	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	ICGC,
chr2	155432802	155432802	G	A	intergenic	LOC100144595,KCNJ3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,cardiovascular system phenotype	-,Schizophrenia, association with  	ICGC,
chr15	94043677	94043677	T	G	intergenic	RGMA,LOC101927153	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	Autism,-	ICGC,
chr8	88965907	88965907	C	T	intergenic	DCAF4L2,MMP16	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,-	ICGC,
chr20	2211525	2211525	A	G	intergenic	LOC388780,TGM3	unknown	SNV	-	-	-	0.9195	rs4815055	-	0.879992	-	0.891	-	-	LAML-KR|1|205|0.00488	-	-	-,integument phenotype	-,Basal cell carcinoma, increased risk, association with|Basal cell carcinoma, reduced risk, association with	ICGC,
chr2	171235337	171235337	G	T	intronic	MYO3B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-	-	ICGC,
chr6	24032711	24032711	T	C	intergenic	HDGFL1,NRSN1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9777913	-	OV-AU|1|93|0.01075	-	-	-,-	-,-	COSMIC,ICGC,
chr3	153870645	153870645	C	T	exonic	ARHGEF26	unknown	SNV	-	-	-	-	-	-	-	-	-	COSM3004297	-	-	-	-	-	-	COSMIC,COSMIC,COSMIC,
chr3	47555559	47555559	-	GTATTA	upstream	ELP6	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	-	ICGC,
chr11	74870236	74870236	G	A	intronic	SLCO2B1	unknown	SNV	-	-	-	0.0002	rs746702933	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	immune system phenotype	Poor montelukast metabolism|Increased mRNA expression  |Decreased enzyme activity	ICGC,
chr10	91716783	91716783	-	AA	ncRNA_intronic	LINC01375	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN26356574	-	-	-	-	-	-	COSMIC,
chr17	6264741	6264741	C	T	intergenic	WSCD1,AIPL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,vision/eye phenotype	-,Retinitis pigmentosa, autosomal recessive ?|Retinal degeneration, late-onset |Retinal degeneration, autosomal recessive|Leber congenital amaurosis IV|Leber congenital amaurosis|Cone-rod dystrophy	ICGC,
chr3	59124321	59124321	A	G	intergenic	C3orf67,FHIT	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25734967	-	EOPC-DE|1|202|0.00495	-	-	-,integument phenotype	-,-	COSMIC,ICGC,
chr4	166798942	166798942	C	-	intronic	TLL1	unknown	deletion	-	-	-	0.0022	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	integument phenotype	Hyperinsulinism|Atrial septal defect  	ICGC,
chr5	164126905	164126905	C	A	intergenic	LOC102546299,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN43477	-	-	-	-	-,-	-,-	COSMIC,
chr20	24347546	24347546	C	T	intergenic	FLJ33581,SYNDIG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|2|100|0.02000	-	-	-,-	-,-	ICGC,
chr19	48347491	48347491	C	T	downstream	CRX	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	vision/eye phenotype	Retinitis pigmentosa, autosomal recessive ?|Retinitis pigmentosa, autosomal dominant|Retinitis pigmentosa|Potential protein deficiency|Macular dystrophy  |Leber congenital amaurosis|Cone/cone-rod dystrophy.|Cone-rod dystrophy|Cone dystrophy	ICGC,
chr4	58595633	58595633	C	T	intergenic	IGFBP7-AS1,NONE	unknown	SNV	-	-	-	3.241e-05	rs565773372	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	54786629	54786629	C	T	exonic	CACNA2D3	nonsynonymous	SNV	0.0	1.0	0	-	-	-	-	-	-	COSM259909	BRCA|1|982|0.00102,COADREAD|1|489|0.00204,READ|1|122|0.00820	COCA-CN|1|321|0.00312,BRCA-US|1|955|0.00105	-	-	integument phenotype	Autism 	COSMIC,TCGA,ICGC,
chr19	45272215	45272215	A	G	intergenic	BCL3,CBLC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	mortality/aging,normal phenotype	-,Reduced LDL cholesterol levels	ICGC,
chr14	46762259	46762259	G	T	ncRNA_intronic	LINC00871	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr14	39472465	39472465	G	A	intergenic	LINC00639,SEC23A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Autism spectrum disorder|Cranio-lenticulo-sutural dysplasia	ICGC,
chr8	872655	872655	A	G	ncRNA_intronic	ERICH1-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-	-	ICGC,
chr2	43955353	43955353	C	G	intronic	PLEKHH2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr11	44534999	44534999	-	T	intergenic	ALX4,CD82	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	integument phenotype,-	Skull defects, alopecia, hypertelorism & notched alae nasi|Nasal malformations & parietal foramina|Frontonasal dysplasia with intellectual disability, hypogonadism & partial alopecia|Frontonasal dysplasia 2|Frontonasal dysplasia|Frontofacial dysostosis syndrome|Foramina parietalia permagna|Craniosynostosis, nonsymdromic,-	ICGC,
chr13	61830797	61830797	T	G	intergenic	MIR3169,PCDH20	unknown	SNV	-	-	-	0.1174	rs117289924	-	0.0944489	-	-	COSN17532328	-	ESAD-UK|2|301|0.00664	-	-	-,-	-,-	COSMIC,COSMIC,ICGC,
chr17	38681671	38681671	C	T	intergenic	TNS4,CCR7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,hematopoietic system phenotype	-,Reduced expression	ICGC,
chrX	150568479	150568479	A	G	intronic	VMA21	unknown	SNV	-	-	-	-	rs780014608	-	0.000264901	-	-	COSN9878913	-	RECA-EU|1|422|0.00237	-	-	-	X-linked myopathy with excessive autophagy	COSMIC,ICGC,
chr20	6836363	6836363	A	C	intergenic	BMP2,LINC01428	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Wolff-Parkinson-White syndrome|Wolff-Parkinson-White & Alagille syndrome|Thymoma and autoimmune disease |Reduced fat and increased muscle mass, association with|Orofacial cleft palate|Decreased mRNA stability|Colorectal cancer, increased risk, association with|Cleft palate  |Brachydactyly type A2|Bone mass, association with ,-	ICGC,
chr11	93971931	93971931	T	G	intergenic	PANX1,FOLR4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	respiratory system phenotype,-	-,-	ICGC,
chrY	10010236	10010236	C	T	intergenic	TTTY23B,NONE	unknown	SNV	-	-	-	-	rs76838333	-	-	-	-	COSN19764566	-	COCA-CN|1|321|0.00312	-	-	-,-	-,-	COSMIC,ICGC,
chr1	216301413	216301413	G	A	intronic	USH2A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16750109	-	LIRI-JP|1|258|0.00388	-	-	vision/eye phenotype	Retinitis pigmentosa?|Retinitis pigmentosa.|Sensorineural hearing loss, nonsyndromic  |Usher syndrome  |Usher syndrome 1  |Usher syndrome 2|Usher syndrome 2a|Usher syndrome 3 |Retinitis pigmentosa, recessive, no hearing loss|Retinitis pigmentosa, autosomal recessive.|Retinitis pigmentosa, autosomal recessive |Retinitis pigmentosa|Retinal degeneration|Hearing loss, early-childhood|Deafness, non-syndromic |Deafness  |Autism spectrum disorder|Autism	COSMIC,ICGC,
chr15	45879522	45879522	C	T	UTR5	BLOC1S6	unknown	SNV	-	-	-	0.0004	rs2304898	-	0.000998403	-	-	-	-	-	Hermansky-Pudlak_syndrome	-	integument phenotype	Hermansky-Pudlak syndrome 9	ClinVar,
chr18	41053235	41053235	C	T	intergenic	SYT4,LOC101927921	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,-	-,-	ICGC,
chr12	133798841	133798841	C	T	intronic	ANHX	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr15	59567578	59567578	A	G	intronic	MYO1E	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21118314	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging	Focal segmental glomerulosclerosis, childhood familial|Nephrotic syndrome  |Nephrotic syndrome, steroid resistant	COSMIC,ICGC,
chr8	78706085	78706085	C	G	intergenic	PEX2,PKIA	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5688667	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging,normal phenotype	Zellweger syndrome|Refsum disease, infantile|Peroxisome biogenesis disorder|Cerebellar ataxia, autosomal recessive,-	COSMIC,COSMIC,ICGC,
chrX	35321432	35321432	G	T	intergenic	FAM47B,MAGEB16	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	Potential protein deficiency,Potential protein deficiency	ICGC,
chr4	100227664	100227664	G	A	UTR3	ADH1B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	Oesophageal squamous cell carcinoma|Oesophageal squamous cell carcinoma, association with|Ovarian cancer, association with.|Pancreatic cancer risk|Prenatal alcohol use|Reduced alcohol metabolism, association with|Upper aerodigestive tract cancer, association with.|Upper aerodigestive tract cancer, increased risk, association wit|Oesophageal cancer risk|Migraine|Increased promoter activity|Alcohol dehydrogenase beta variant|Alcohol dependence, association with|Alcohol dependence, protection against|Alcoholism risk|Altered drinking behaviour, association with.|Drinking behavior, association with|Esophageal squamous cell carcinoma, increased risk|Increased expression	ICGC,
chr5	146546295	146546295	G	A	intergenic	PPP2R2B,STK32A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,homeostasis/metabolism phenotype	Alzheimer disease, association with |Spinocerebellar ataxia 12,Potential protein deficiency	ICGC,
chr10	133167198	133167198	G	A	intergenic	TCERG1L,LINC01164	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chrX	62245754	62245754	A	-	intergenic	NONE,SPIN4	unknown	deletion	-	-	-	-	-	-	-	-	-	COSN19507761	-	-	-	-	-,-	-,-	COSMIC,
chr11	100179181	100179181	G	A	exonic	CNTN5	nonsynonymous	SNV	0.077	1.0	-	-	-	-	-	-	-	COSM3442523	SKCM|1|368|0.00272	SKCM-US|1|335|0.00299	-	-	behavior/neurological phenotype	-	COSMIC,COSMIC,TCGA,ICGC,
chr2	13529085	13529085	A	C	intergenic	LOC100506474,LINC00276	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr6	119864672	119864672	G	T	intergenic	LOC285762,TBC1D32	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7782676	-	PACA-CA|1|268|0.00373	-	-	-,-	-,Oro-facio-digital syndrome type IX	COSMIC,COSMIC,ICGC,
chr7	68151234	68151234	G	A	intergenic	LOC102723427,LOC100507468	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr16	3391349	3391349	G	A	intergenic	ZNF75A,OR2C1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5406676	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,Altered receptor function	COSMIC,ICGC,
chr2	67656401	67656401	G	A	intergenic	ETAA1,LOC101927701	unknown	SNV	-	-	-	0.0034	rs150281811	-	0.00359425	-	-	COSN8560936	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	COSMIC,ICGC,
chr13	91802308	91802309	TC	-	ncRNA_intronic	LINC00379	unknown	deletion	-	-	-	0.0198	rs375464540	-	-	-	-	COSN23163712	-	-	-	-	-	-	COSMIC,
chr7	113372299	113372299	G	A	intergenic	LINC00998,PPP1R3A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,growth/size phenotype	-,Insulin resistance, association with|Insulin resistance|Glycemia variation, association with	ICGC,
chr6	93943905	93943905	G	A	intergenic	CASC6,EPHA7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,nervous system phenotype	-,Development delay and dysmorphic features|Leukemia, risk, association with 	ICGC,
chr11	6158470	6158470	G	A	intergenic	OR56B4,OR52B2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	172204572	172204572	C	T	intergenic	GHSR,TNFSF10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	skeleton phenotype,mortality/aging	Short stature|Short normal stature|Reduced weight loss during fasting, association with|Obesity|Growth hormone deficiency, isolated|Decreased receptor expression|Constitutional delay of growth and puberty,Breast cancer, association with|Potential protein deficiency	ICGC,
chrX	112809572	112809572	A	G	intergenic	LOC101928437,HTR2C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,integument phenotype	-,Tourette syndrome, association with|Tardive dyskinesia, association with|Suicide, association with|Reduced promoter activity|Premature ejaculation, association with|Increased promoter activity, association with|Hallucinations, in Alzheimer disease, association|Greater dopamine release|Alcohol use disorder comorbidity, association with|Anxiety, and Appetite disturbances in females, in Alzheimer disease, association with.|Bipolar affective disorder, association with|BMI, association with|Depression, in Alzheimer disease, association with.|Diabetes, association with	ICGC,
chr2	207732393	207732393	T	C	intergenic	FASTKD2,CPO	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Cytochrome c oxidase deficiency,-	ICGC,
chr11	117706128	117706128	G	A	intronic	FXYD6-FXYD2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5896342	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr4	161662897	161662897	T	G	intergenic	RAPGEF2,FSTL5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	integument phenotype,-	-,Schizophrenia  |Rolandic epilepsy 	ICGC,
chr11	94435347	94435347	T	A	intergenic	PIWIL4,AMOTL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	reproductive system phenotype,cellular phenotype	Autism,-	ICGC,
chr4	138546522	138546522	A	G	intergenic	PCDH18,LINC00616	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	Intellectual disability  ,-	ICGC,
chr13	66403045	66403045	C	T	intergenic	NONE,PCDH9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr11	29634583	29634583	A	T	intergenic	MIR8068,KCNA4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,behavior/neurological phenotype	-,-	ICGC,
chr12	9450199	9450199	C	T	ncRNA_intronic	LOC642846	unknown	SNV	-	-	-	0.2870	rs369115098	-	0.319289	-	-	COSN15143251	-	LAML-KR|1|205|0.00488	-	-	-	-	COSMIC,ICGC,
chr4	145193889	145193889	C	T	intergenic	GYPA,HHIP-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	MNS antigen, absence|M blood type variant|Haemolytic disease of the newborn|Blood group variation|Blood group Erik variant,-	ICGC,
chr7	41325100	41325100	T	-	intergenic	LINC01449,INHBA	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,integument phenotype	-,Ovarian epithelial tumours, early onset	ICGC,
chr2	216037121	216037121	A	C	intergenic	ABCA12,ATIC	unknown	SNV	-	-	-	0.0049	-	-	-	-	-	COSN17941891	-	SKCA-BR|2|100|0.02000	-	-	integument phenotype,-	Ichthyosis, lamellar, type 2|Ichthyosis, harlequin|Ichthyosis, congenital, autosomal recessive|Ichthyosis|Ichthyosiform erythroderma, congenital, nonbullous|Ichthyosiform erythroderma, congenital|Autism,AICA-Ribosiduria	COSMIC,ICGC,
chr21	21611684	21611684	C	T	intergenic	LOC101927797,LINC00320	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr8	120045793	120045793	A	G	intergenic	TNFRSF11B,COLEC10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Travellers diarrhea, association with|Spine bone mineral density, reduced, in postmenopausal women, association with|Periodontitis, association with|Paget disease, juvenile|Paget disease|Osteoporotic fractures, association with|Ischemic stroke, association with|Increased lumbar spine BMD in adolescent idiopathic scoliosis, association with|Altered splicing  |Bone mineral density in men, association with|Coronary artery disease, association with|Decreased bone mineral density, association |Increased intima-media thickness, association,-	ICGC,
chr15	67135422	67135422	C	T	intergenic	SMAD6,SMAD3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20681388	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging,integument phenotype	Cardiovascular malformation, congenital,Thoracic aortic aneurysms and dissections|Osteoarthritis|Hypoplastic left heart syndrome with aortic aneurysm|Aortic aneurysms & dissections with early-onset osteoarthritis|Aneurysms-osteoarthritis syndrome	COSMIC,ICGC,
chr1	80446836	80446836	G	A	intergenic	ELTD1,LPHN2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	normal phenotype,mortality/aging	-,Schizophrenia	ICGC,
chr13	67024844	67024844	A	G	intronic	PCDH9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-	-	ICGC,
chr1	71853501	71853501	G	A	intergenic	ZRANB2-AS2,NEGR1	unknown	SNV	-	-	-	0.0002	rs548520906	-	0.000798722	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,behavior/neurological phenotype	-,Obesity, association with|Dyslexia |Body mass index, association with|Attention deficit hyperactivity disorder	ICGC,
chr3	43249258	43249258	C	A	intergenic	POMGNT2,SNRK	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	Walker-Warburg syndrome,Autism	ICGC,
chr13	90498464	90498464	G	A	intergenic	LINC00353,LINC00559	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr15	58133081	58133081	T	C	intergenic	GCOM1,ALDH1A2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,Pentalogy of Cantrell|Tetralogy of Fallot	ICGC,
chr18	49863477	49863477	A	C	intergenic	LOC100287225,DCC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,mortality/aging	-,Altered p53 transactivation|Colorectal cancer, risk, association with |Mirror movements, congenital	ICGC,
chr8	121772852	121772852	-	A	intronic	SNTB1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	-	ICGC,
chr1	113404075	113404075	-	A	intergenic	LINC01356,SLC16A1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	-,Exercise-induced hyperinsulinism|Erythrocyte lactate transport deficiency	ICGC,
chr11	89102932	89102932	G	A	intronic	NOX4	unknown	SNV	-	-	-	0.5281	rs510593	-	0.591254	-	0.029	-	-	LAML-KR|1|205|0.00488	-	-	mortality/aging	-	ICGC,
chr11	31877471	31877471	C	T	ncRNA_intronic	DKFZp686K1684	unknown	SNV	-	-	-	-	rs761143587	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr5	88210609	88210609	T	A	ncRNA_intronic	MEF2C-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27824649	-	UTCA-FR|1|20|0.05000	-	-	-	-	COSMIC,COSMIC,ICGC,
chr2	45789562	45789562	A	G	intronic	SRBD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr12	94199987	94199987	T	C	intronic	CRADD	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Mental retardation, non-syndromic 	ICGC,
chr4	15382546	15382546	G	A	intronic	C1QTNF7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	-	ICGC,
chr7	79369881	79369881	C	T	intergenic	MAGI2-AS3,MIR548M	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr9	121890571	121890571	C	T	intergenic	TLR4,BRINP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Phenotypic variation in haemochromatosis, association with|Periodontitis, association with|Pancreatic necrotic infection, association with|Negative association with FMF|Nasopharyngeal cancer, increased risk, association with|Moraxella catarrhalis infection, increased risk, association with|Metabolic syndrome, association with|Meningococcal disease susceptibility|Meningococcal disease mortality|Lung function, association with|Lower left ventricular mass, in hypertensive women, association|Increased risk of cirrhosis in chronic hepatitis C ?|Increased liver and body fat, association with|Potential protein deficiency|Preterm birth and premature rupture of membranes, association with|Tuberculosis susceptibility, in HIV-infected patients, association|Serious infection, in HIV-1 patients, association with|Retinitis pigmentosa |Reduced LPS-induced IL-12 secretion, association with|Reduced expression|Pulmonary tuberculosis, susceptibility and severity, association|Pulmonary tuberculosis, severity, association with|Protection from urinary tract infection, association with|Protection against being overweight|Prostate cancer, increased risk|Prostate cancer risk, association with|Primary open-angle, normal-tension, and exfoliation glaucoma, association with.|Typhoid infection, increased risk, association with|Increased IL-4 secretion response to measles vaccination, association|Cutaneous leishmaniasis, association with|Crohn's disease, association with|Colorectal cancer, association with.|Colorectal cancer risk, association with|Cervical cancer, early stage, association with|Cancer, increased risk, association with|Bronchopulmonary Dysplasia, infant, association with|Breast cancer, association with.|Behcet disease, protection against, association with|Altered monocyte receptor levels|Acute pyelonephritis, reduced risk in adults, association with|Acute pyelonephritis, in children, association with|Diabetes, type 2, protection against, association with|Digestive system cancer, increased risk & prostate cancer, protection against, association with|Emphysema, association with|Increased expression|Helicobacter pylori-related gastric atrophy, association with|HBV recurrence after liver transplantation, association with|Guillain-Barré syndrome, association with|Guillain-Barré syndrome, AMAN sub-type, association with|Gastritis, association with|Gastric carcinoma, association with|Endometriosis, association with|Endotoxin hyporesponsiveness, association with|Extra-intestinal manifestations in Crohn's disease, association with.|Gastric adenocarcinoma, association with|Gastric cancer, association with,-	ICGC,
chr4	177449992	177449992	A	T	intergenic	SPCS3,VEGFC	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7754549	-	PACA-AU|1|391|0.00256	-	-	-,mortality/aging	-,Lymphoedema, primary, Milroy-like	COSMIC,ICGC,
chr6	162282924	162282924	-	C	intronic	PARK2	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN14696072	-	-	-	-	integument phenotype	Parkinson disease, decreased risk|Parkinson disease, early-onset|Parkinson disease, early-onset.|Parkinson disease, familial|Parkinson disease, familial, association with |Parkinson disease, idiopathic|Parkinson disease, in heterozygosity, association|Parkinson disease, late-onset|Parkinson disease, sporadic, reduced risk|Parkinson disease.|Parkinsonism, juvenile, autosomal recessive|Parkinsonism, late-onset, association with|Rolandic epilepsy |Parkinson disease, autosomal recessive|Parkinson disease, association with|Parkinson disease with resting leg tremor|Attention deficit hyperactivity disorder |Autism spectrum disorder|Cervical artery dissection|Dementia with Lewy bodies|Developmental delay  |Dystonia, dopa-responsive|Leprosy, association with|Lewy bodies|Lung adenocarcinoma   |Multiple system atrophy, cerebellar subtype|Parkinson disease|Parkinson disease with dementia.|Parkinson disease with Lewy bodies	COSMIC,
chr2	104976144	104976144	T	C	intergenic	TMEM182,LOC100287010	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	-,-	-,-	ICGC,
chr11	126887499	126887499	C	T	intergenic	KIRREL3-AS3,LOC101929473	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr1	2485312	2485312	C	A	ncRNA_intronic	LOC115110	unknown	SNV	-	-	-	-	rs550450518	-	0.000199681	-	-	COSN22115092	-	BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr9	97484381	97484381	G	A	intergenic	FBP1,C9orf3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,normal phenotype	Fructose-1,6-bisphosphatase deficiency,-	ICGC,
chr4	3216851	3216851	G	T	exonic	HTT	stopgain	SNV	-	-	-	-	-	-	-	-	-	COSM4619239	-	-	-	-	integument phenotype	Potential protein deficiency|Huntington disease|Chorea, non-progressive, early-onset.|Benign hereditary chorea.	COSMIC,
chr17	48849727	48849727	C	T	intergenic	MIR8059,WFIKKN2	unknown	SNV	-	-	-	0.0015	rs147245801	-	0.00519169	-	-	-	-	LAML-KR|1|205|0.00488	-	-	-,-	-,-	ICGC,
chr2	161328201	161328201	-	TGTGTATA	intronic	RBMS1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	mortality/aging	-	ICGC,
chr3	131477569	131477569	C	T	intronic	CPNE4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr16	16921145	16921145	G	A	intergenic	NPIPA7,XYLT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,Decreased serum glycosaminoglycan levels, association with|Desbuquois dysplasia type 2|Diabetes, type 1, protection, association |Diabetic nephropathy protection |Increased serum XT1 activity in pseudoxanthoma elasticum, association|Short stature & intellectual disability	ICGC,
chr7	83590980	83590980	C	A	exonic	SEMA3A	stopgain	SNV	-	-	-	-	-	-	-	-	-	COSM4724676	-	-	-	-	mortality/aging	Unexplained cardiac arrest, association with|Short stature & multiple congenital anomalies|Kallmann syndrome|Hirschsprung disease   |Crypt frequency in the iris, association with	COSMIC,
chr19	6681945	6681945	G	A	intronic	C3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Haemolytic uraemic syndrome, atypical.|Macular degeneration, age related, protection against |Macular degeneration, age-related|Macular degeneration, age-related, association with|Macular degenerationm age-related, association with|Systemic vasculitis, association with|Temporal lobe epilepsy & febrile seizures, protection, assoc with|Thrombotic microangiopathy  |Haemolytic uraemic syndrome, atypical|Haemolytic uraemic syndrome|Age-related macular degeneration, association with|Age-related macular degeneration, exudative, association with|Autism|C3 glomerulonephritis|Complement C3 deficiency|Dense deposit disease |Dense deposit disease, increased risk|Focal and segmental glomerulosclerosis, association with	ICGC,
chr8	16315374	16315374	G	T	intergenic	MSR1,FGF20	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23624388	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,hearing/vestibular/ear phenotype	Prostate cancer, association with|Prostate cancer|Chronic obstructive pulmonary disease, in smokers, association with|Barrett oesophagus/oesophageal adenocarcinoma|Atherosclerosis, increased risk, association with,Larger hippocampal volume, association with|Parkinson disease, increased risk, association with	COSMIC,ICGC,
chr4	189478965	189478965	T	A	ncRNA_intronic	LINC01060	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr7	117175466	117175466	G	C	splicing	CFTR	splicing	SNV	-	-	-	-	rs397508791	-	-	-	-	-	-	-	Cystic_fibrosis	-	mortality/aging	Pancreatitis, chronic, increased risk|Non-obstructive azoospermia|Obstructive azoospermia|Obstructive azoospermia.|Oligospermia|Ovulatory infertility.|Pancreatic cancer, increased risk |Pancreatic sufficient cystic fibrosis|Pancreatitis|Pancreatitis, chronic|Pancreatitis, chronic ?|Pancreatitis, chronic, association with.|Metabolic alkalosis|Meconium ileus, lethal|Lung disease|Hypochloraemic alkalosis|Inadequate weight gain|Increased expression|Increased risk of pancreatitis in patient with mild CF|Infertility |Infertility, association with|Inflammatory bowel disease|Leukemia, risk, association with|Lung cancer|Lung cancer risk, association with|Lung cancer, reduced risk|Hypertrypsinaemia, neonatal|Pancreatitis, chronic.|RA-associated diffuse bronchiectasis/rheumatoid arthritis|Recurrent pancreatitis|Recurrent pancreatitis, and disseminated bronchiectasis|Reduced bone mineral density in cystic fibrosis|Reduced expression|Respiratory symptoms of cystic fibrosis|Respiratory/pancreatic disease, association with|Rheumatoid arthritis-associated diffuse bronchiectasis|Sarcoidosis, susceptibility to|Transient reactive papulotranslucent acrokeratoderma.|Tubal infertility.|Pulmonary disease|Pseudo-Bartter's syndrome|Proteinuria in cystic fibrosis, association with|Pancreatitis, early acute.|Pancreatitis, idiopathic|Pancreatitis, idiopathic chronic  |Pancreatitis, increased risk|Pancreatitis, necrotizing.|Pancreatitis.|Phenotype modifier|Phenotype modifier, association with|Primary sclerosing cholangitis|Primary sclerosing cholangitis, protection against|Prostate cancer protection|Typhoid fever, protection against, association with|Abs of vas def, recurr pancreatitis, and diss bronchiectasis|Azoospermia with congenital absence of the vas deferens|Azoospermia with congenital absence of vas deferens|Azoospermia without CAVD and oligospermia|Azoospermia without congenital absence of the vas deferens|Azoospermia.|Bronchial asthma, association with|Bronchial asthma, association with.|Bronchiectasis|Bronchiectasis, association with|Bronchiectasis, association with.|Bronchiectasis, disseminated.|Azoospermia with CAVD and Oligospermia|Azoospermia with and without CAVD and Oligospermia|Azoospermia with and without CAVD|Allergic bronchopulmonary aspergillosis, association with.|Altered expression|Altered splicing|Altered transcription factor binding|Anorectal malformation|Asthenospermia|Asthma|Asthma / chronic pancreatitis|Asthma-like bronchopathy|Asthma.|Azoospermia |Bronchiectasis.|Bronchitis|Cystic fibrosis, atypical|Cystic fibrosis, atypical.|Cystic fibrosis, modifier of|Cystic fibrosis.|Decreased transcription|Diabetic complications in pregnancy, association with.|Disseminated bronchiectasis|Elevated sweat chloride concentration|Fertility advantage in males, association with|Foetal hyperechogenic bowel|Hyperlipidemic pancreatitis, association with|Hypertrypsinaemia, low sweat chloride|Cystic fibrosis, association with|Cystic fibrosis related liver disease|CFTR-related disorder|Chronic obstructive pulmonary disease, reduced severity, association|Chronic pancreatitis, increased risk|Chronic pulmonary disease|Con abs of vas deferens, and disseminated bronchiectasis|Congenital absence of vas deferens|Congenital absence of vas deferens and bronchiectasis|Congenital absence of vas deferens, association|Crohn's disease, protection against, association with|Cystic fibrosis|Cystic fibrosis & sickle cell-beta thalassaemia|Cystic fibrosis related disorder	ClinVar,
chr12	2588618	2588618	G	A	intronic	CACNA1C	unknown	SNV	-	-	-	3.229e-05	-	-	-	-	-	COSN7324587	-	PACA-AU|1|391|0.00256	-	-	integument phenotype	Timothy syndrome|Schizophrenia / bipolar disorder, assoc with |Schizophrenia  |Long QT syndrome.|Long QT syndrome|Early repolarization syndrome|Cardiomyopathy, hypertrophic.|Cardiomyopathy, hypertrophic|Cardiac arrhythmia|Brugada syndrome (shorter-than-normal QT interval)|Autism spectrum disorder	COSMIC,ICGC,
chr6	93481699	93481699	C	T	intergenic	CASC6,EPHA7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,nervous system phenotype	-,Development delay and dysmorphic features|Leukemia, risk, association with 	ICGC,
chr20	22446515	22446515	G	T	intergenic	LOC284788,LINC00261	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22530951	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr5	124744975	124744975	C	T	intergenic	LOC101927421,LOC101927460	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN18806268	-	-	-	-	-,-	-,-	COSMIC,
chr7	92687952	92687952	T	C	intergenic	LOC101927497,SAMD9	unknown	SNV	-	-	-	0.1461	rs34822324	-	0.145567	-	0.138	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,Tumoural calcinosis, normophosphataemic	ICGC,
chr5	4939236	4939236	G	A	intergenic	LOC101929153,LINC01020	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27966047	-	PRAD-CA|1|308|0.00325	-	-	-,-	-,-	COSMIC,ICGC,
chr13	92847786	92847786	T	A	intronic	GPC5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25940885	-	ESAD-UK|1|301|0.00332	-	-	-	Spina bifida  	COSMIC,COSMIC,COSMIC,ICGC,
chr3	151929048	151929048	G	A	intergenic	AADACL2-AS1,MBNL1-AS1	unknown	SNV	-	-	-	0.0933	rs6806703	-	0.104233	-	0.101	COSN9136566	-	OV-AU|1|93|0.01075	-	-	-,-	-,-	COSMIC,ICGC,
chr9	87842193	87842193	G	-	intergenic	NTRK2,AGTPBP1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging,vision/eye phenotype	Anxiety-related traits, association with|Obesity, hyperphagia, and developmental delay,-	ICGC,
chr13	90334179	90334179	T	C	intergenic	LINC00353,LINC00559	unknown	SNV	-	-	-	0.1562	rs7982771	-	0.216853	-	0.116	-	-	LAML-KR|1|205|0.00488,SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr6	22815394	22815394	T	G	intergenic	HDGFL1,NRSN1	unknown	SNV	-	-	-	0.0005	rs533100208	-	0.000199681	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr6	123894543	123894543	C	T	intronic	TRDN	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	Catecholaminergic polymorphic ventricular tachycardia	ICGC,
chr18	45834450	45834450	A	T	intergenic	ZBTB7C,CTIF	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	cellular phenotype,-	-,-	ICGC,
chr8	72653437	72653437	A	G	intergenic	EYA1,MSC	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17654174	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,mortality/aging	Oto-facio-cervical syndrome|Peters' anomaly with cataracts|Renal hypodysplasia|Renal malformation|Ureteropelvic junction obstruction and reduced renal function|Iris anomaly|Hearing loss?|Deafness  |Cayler's cardiofacial syndrome|Cataract, autosomal dominant|Branchio-oto-renal syndrome|Branchio-oto-renal / branchiootic syndrome|Branchio-otic syndrome,-	COSMIC,ICGC,
chr16	59612229	59612229	G	A	intergenic	GOT2,APOOP5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	114723691	114723691	G	T	intergenic	CAMK2D,ARSJ	unknown	SNV	-	-	-	0.1461	rs73842841	-	0.147564	-	0.123	COSN15974634	-	LAML-KR|2|205|0.00976,PACA-CA|1|268|0.00373,SKCA-BR|1|100|0.01000	-	-	cardiovascular system phenotype,-	Hyperinsulism,-	COSMIC,ICGC,
chr6	48565560	48565560	C	T	intergenic	PTCHD4,MUT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Methylmalonic aciduria	ICGC,
chr13	64963708	64963708	G	A	intergenic	OR7E156P,PCDH9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr12	116324487	116324487	C	T	intergenic	TBX3,MED13L	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Ulnar-mammary syndrome,Intellectual disability, nonsyndromic, no cardiac involvement|Hypotonia, learning difficulties & perimembranous ventricular septal defect|Hypotonia, intellectual disability, conotruncal heart defect & facial anomalies|Congenital heart defect|Colorectal cancer, increased risk, association with |Autism	ICGC,
chr20	14418089	14418089	A	C	intronic	MACROD2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-	Kabuki syndrome|Attention deficit hyperactivity disorder 	ICGC,
chr16	60519014	60519014	T	A	intergenic	LOC729159,CDH8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Learning disability  |Autism & learning disability 	ICGC,
chrY	13225963	13225963	C	T	intergenic	NONE,GYG2P1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25767233	-	EOPC-DE|1|202|0.00495	-	-	-,-	-,-	COSMIC,ICGC,
chr1	53676775	53676775	C	T	exonic	CPT2	nonsynonymous	SNV	0.013	1.0	1.221e-05	3.228e-05	rs770734793	8.361e-06	-	-	-	COSM910772	UCEC|1|248|0.00403	UCEC-US|1|250|0.00400	-	-	-	Sudden unexpected death in infancy |Rhabdomyolysis and cardiomyopathy|Myalgia, pareses or rhabdomyolysis.|Infuenza infection-associated encephalopathy, association with|Hypercholesterolaemia|Carnitine palmitoyltransferase 2 deficiency, neonatal, with dysmorphism.|Carnitine palmitoyltransferase 2 deficiency	COSMIC,TCGA,ICGC,
chr9	104837095	104837095	G	A	intergenic	GRIN3A,LINC00587	unknown	SNV	-	-	-	0.0356	rs75214266	-	0.0349441	-	0.051	COSN23101884	-	MALY-DE|1|241|0.00415	-	-	vision/eye phenotype,-	Schizophrenia, increased risk |Schizophrenia |Potential protein deficiency,-	COSMIC,ICGC,
chr15	72490012	72490012	C	T	intronic	GRAMD2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-	-	ICGC,
chr10	98030115	98030115	C	G	intronic	BLNK	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	mortality/aging	Schizophrenia  |Hypogammaglobulinaemia	ICGC,
chr2	103023596	103023596	G	T	intergenic	IL18R1,IL18RAP	unknown	SNV	-	-	-	0.2016	rs78178597	-	0.142971	-	0.225	-	-	ESAD-UK|2|301|0.00664	-	-	immune system phenotype,immune system phenotype	Altered p53 binding,Celiac disease, association with	ICGC,
chr16	89980487	89980487	G	A	intergenic	TCF25,MC1R	unknown	SNV	-	-	-	3.233e-05	-	-	-	-	-	COSN26579894	-	LICA-CN|1|402|0.00249	-	-	-,integument phenotype	-,Melanoma, in CDKN2A mutation carriers, association with|Melanoma, red hair, and fair skin, association with.|No association with melanoma, red hair, or fair skin.|Obesity |Obesity?|Oculocutaneous albinism|Photoaging, association with|Red hair, increased risk|Reduced cell surface expression|Skin lightness, association with.|UV-induced skin damage, vulnerability to|Vitiligo protection|Melanoma, association with.|Melanoma, association with|Melanoma, and red hair, association with.|Basal cell carcinoma|Depression, association with|Ephelides, increased risk, association with|Fair hair, association with|Freckling, association with.|Functional melanin, lower levels, association with|Glucocorticoid deficiency without pigmentation|Impaired activity|Increasing size of congenital melanocytic nevi, association with|Lentigo maligna melanoma, association with|Melanoma|Melanoma ?	COSMIC,ICGC,
chr1	56069670	56069670	C	G	intergenic	MIR4422,PPAP2B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,mortality/aging	-,-	ICGC,
chr16	5248247	5248247	C	T	intergenic	FAM86A,LOC101926950	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr10	12944290	12944290	A	C	intronic	CCDC3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr19	9285217	9285217	-	TA	intergenic	ZNF317,OR7D2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr13	94184650	94184650	C	T	intronic	GPC6	unknown	SNV	-	-	-	9.704e-05	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	Omodysplasia|Pancreatic cancer 	ICGC,
chr7	88964246	88964246	T	A	exonic	ZNF804B	nonsynonymous	SNV	0.597	0.001	-	-	-	-	-	-	-	COSM5808260	-	LICA-CN|1|402|0.00249	-	-	-	-	COSMIC,ICGC,
chrX	87402388	87402388	C	T	intergenic	KLHL4,CPXCR1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	147137985	147137985	C	T	intronic	ACP6	unknown	SNV	-	-	-	0.1019	rs3820126	-	0.128395	-	0.094	-	-	ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488	-	-	-	Anorectal malformation	ICGC,
chr20	37977018	37977018	G	A	intergenic	LOC339568,LINC01370	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22534412	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr9	98209347	98209347	G	C	exonic	PTCH1	synonymous	SNV	-	-	8.135e-06	-	rs754826635	1.668e-05	-	-	-	-	-	-	Gorlin_syndrome	-	integument phenotype	Multiple self-healing squamous epithelioma, modifer of|Nevoid basal cell carcinoma syndrome|Nevoid basal cell carcinoma syndrome features, pulmonary valve stenosis & mental retardation|Odontogenic keratocysts|Ossification of posterior longitudinal ligament|Short stature, intellectual disability & facial dysmorphism|Skin cancer, association with|Multiple basal cell carcinoma |Microcephaly and developmental delay  |Keratocystic odontogenic tumours, non-syndromic|Keratocystic odontogenic tumours|Holoprosencephaly|Gorlin-syndrome-related odontogenic keratocysts|Gorlin syndrome and autism|Gorlin syndrome|Congenital heart disease |Basal cell carcinoma	ClinVar,
chr8	79822851	79822851	C	G	intergenic	IL7,STMN2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	hematopoietic system phenotype,-	Increased expression,-	ICGC,
chr2	217585805	217585805	C	T	intergenic	IGFBP5,TNP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	endocrine/exocrine gland phenotype,reproductive system phenotype	Squamous cell carcinoma of the head and neck, increased risk|Lung cancer, susceptibility to, association with,Oligozoospermia |Lower number of permanent teeth erupted, association with |Azoospermia 	ICGC,
chr4	77354121	77354121	G	A	intergenic	CCDC158,SHROOM3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Heterotaxy |Leukemia, risk, association with 	ICGC,
chr13	36243134	36243134	-	G	ncRNA_intronic	MIR548F5	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	-	ICGC,
chr16	49279686	49279686	G	T	intergenic	N4BP1,CBLN1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8500656	-	OV-AU|1|93|0.01075	-	-	no phenotypic analysis,behavior/neurological phenotype	-,-	COSMIC,COSMIC,ICGC,
chr1	75242165	75242165	C	T	intergenic	TYW3,LHX8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Cleft lip 	ICGC,
chr3	183814851	183814851	A	G	upstream	HTR3E	unknown	SNV	-	-	-	0.4700	rs56199808	-	0.508786	-	0.529	-	-	ESAD-UK|1|301|0.00332	-	-	-	Irritable bowel syndrome, diarrhoea predominant, in females, association|Potential protein deficiency	ICGC,
chr5	15605788	15605788	A	G	ncRNA_intronic	CTD-2350J17.1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16013732	-	PACA-CA|1|268|0.00373	-	-	-	-	COSMIC,ICGC,
chr17	33682527	33682527	T	A	intronic	SLFN11	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr12	47640689	47640689	C	G	intergenic	PCED1B,RPAP3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	158637785	158637785	T	C	exonic	SPTA1	nonsynonymous	SNV	0.4	0.001	-	-	-	-	-	-	-	-	-	GACA-JP|1|585|0.00171	-	-	integument phenotype	Spherocytosis, association with |Spherocytosis|Reduced expression|Pyropoikilocytosis|Poikilocytic anaemia|Mean cell haemoglobin concentration, association with|Elliptocytosis|Ellipto-poikilocytosis	ICGC,
chr6	16794389	16794389	G	A	intergenic	ATXN1,STMND1	unknown	SNV	-	-	-	3.26e-05	rs189413260	-	0.000199681	-	-	-	-	MALY-DE|1|241|0.00415	-	-	mortality/aging,-	Spinocerebellar ataxia 1|Schizophrenia, association with |Maculopathy with spinocerebellar ataxia type 1.|Intellectual disability & behavioural abnormalities|Azoospermia, association with|Amyotrophic lateral sclerosis,-	ICGC,
chr10	35270921	35270921	G	C	intergenic	PARD3-AS1,CUL2	unknown	SNV	-	-	-	0.2928	rs4934524	-	0.28135	-	0.246	-	-	ESAD-UK|3|301|0.00997,LAML-KR|2|205|0.00976	-	-	-,-	-,-	ICGC,
chr4	182879343	182879343	T	C	intergenic	LINC00290,MGC45800	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr4	99532837	99532837	A	G	intronic	TSPAN5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	RECA-EU|1|422|0.00237	-	-	-	-	ICGC,
chr16	47188336	47188336	A	C	ncRNA_intronic	LOC101927102	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chrX	6064901	6064901	C	T	intronic	NLGN4X	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Potential protein deficiency|Mental retardation|Kallmann syndrome and ichthyosis|Intellectual disability, short stature & hydrocephaly|Intellectual disability, Kallmann syndrome & ichthyosis|Intellectual disability, behavioural difficulties, ichthyosis & hypogonadotrophic hypogonadism|Intellectual disability, autism spectrum disorder & short stature|Developmental delay, hypospadias & ichthyosis|Developmental delay, autism spectrum disorder, micropenis & ichthyosis|Developmental delay  |Autism, association with|Autism and mental retardation|Autism 	ICGC,
chr4	119274655	119274655	A	C	upstream	PRSS12	unknown	SNV	-	-	-	0.0741	rs56324414	-	0.0301518	-	0.072	COSN24326051	-	SKCA-BR|1|100|0.01000	-	-	behavior/neurological phenotype	Mental retardation, non-syndromic, autosomal recessive	COSMIC,ICGC,
chr3	160003646	160003646	G	A	exonic	IFT80	synonymous	SNV	-	-	-	-	-	-	-	-	-	-	-	-	Jeune_thoracic_dystrophy	-	mortality/aging	Short rib-polydactyly syndrome, type 3|Potential protein deficiency|Asphyxiating thoracic dystrophy 2	ClinVar,
chr6	68694682	68694682	A	T	intergenic	NONE,BAI3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr12	127517764	127517764	T	G	ncRNA_intronic	LOC101927592	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr1	66103564	66103564	T	C	downstream	LEPR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype	Obesity, childhood onset |Obesity, association with.|Obesity, association with|Obesity-related traits, association with|Obesity|Non-small cell lung cancer, association ith|Obesity, early onset|Obesity, early-onset|Obesity, morbid|Obstructive sleep apnea, association with|Oral cancer, association with|Plasma leptin levels + BMI in obesity, association with|Polycystic ovary syndrome, association with|Reduced serum insulin in obese subjects|Weight loss due to dieting in overweight women, association|Neural tube defects, association with|Metabolic syndrome, association with|Menarche, earlier onset, association with|Altered carbohydrate metabolism|Atherosclerosis, early onset, association with|Breast cancer, association with|Breast cancer, association with.|Bronchitis, chronic, association with.|Churg-Strauss syndrome, association with|Entamoeba histolytica, susceptibility, association with|Higher body mass index, association with|Higher leptin levels and preeclampsia, association with|Increased birth weight, association with|Increased proinflammatory state and stress condition in obesity, association with|Insulin, HOMA, and leptin levels in males, association with|Leptin changes after high monounsaturated fat diet, association withrated|Leptin levels and insulin resistance in patients with NAFLD, assocition with|Lower postprandial lipaemic response in males, association with	ICGC,
chr6	93053452	93053452	T	A	intergenic	CASC6,EPHA7	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8782756	-	ESAD-UK|1|301|0.00332	-	-	-,nervous system phenotype	-,Development delay and dysmorphic features|Leukemia, risk, association with 	COSMIC,ICGC,
chr1	34112446	34112446	A	C	intronic	CSMD2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-JP|1|585|0.00171	-	-	-	Schizophrenia	ICGC,
chr21	30418371	30418371	C	T	intronic	USP16	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging	-	ICGC,
chrX	87108230	87108230	-	TTC	intergenic	KLHL4,CPXCR1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr12	98766286	98766286	C	A	intergenic	MIR4303,SLC9A7P1	unknown	SNV	-	-	-	0.0284	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr3	68412473	68412473	-	CGATGGGTC	intronic	FAM19A1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	RECA-EU|1|422|0.00237	-	-	-	-	ICGC,
chr1	75204944	75204944	T	C	intronic	TYW3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-	-	ICGC,
chr4	15516172	15516172	T	C	intronic	CC2D2A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5271367	-	-	-	-	mortality/aging	Potential protein deficiency|Mental retardation with retinitis pigmentosa|Meckel-Gruber syndrome|Meckel syndrome|Joubert syndrome	COSMIC,
chr6	135441101	135441101	C	T	intergenic	HBS1L,MYB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	Severity in thalassaemia, association with|Null allele|Foetal haemoglobin expression,Reduced promoter activity|Reduced expression|Increased foetal haemoglobin levels |Autism	ICGC,
chr2	147136196	147136196	C	T	intergenic	TEX41,PABPC1P2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr9	114649447	114649447	G	A	intergenic	C9orf84,UGCG	unknown	SNV	-	-	-	0.4841	rs10981138	-	0.529752	-	0.406	COSN14767849	-	ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488	-	-	-,mortality/aging	-,-	COSMIC,ICGC,
chr1	149982209	149982209	A	C	intronic	OTUD7B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	behavior/neurological phenotype	-	ICGC,
chr6	27991925	27991925	C	A	intergenic	OR2B6,ZNF165	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr7	52681791	52681791	T	C	intergenic	COBL,POM121L12	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	nervous system phenotype,-	-,-	ICGC,
chr2	218259923	218259923	T	C	ncRNA_intronic	DIRC3	unknown	SNV	-	-	-	0.0016	rs78995046	-	0.00479233	-	-	-	-	LAML-KR|1|205|0.00488	-	-	-	Renal cell cancer	ICGC,
chr3	112457748	112457748	C	T	ncRNA_intronic	LOC101929694	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr8	34108850	34108850	G	A	intergenic	DUSP26,UNC5D	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr8	15044882	15044882	C	T	intronic	SGCZ	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9258408	-	RECA-EU|1|422|0.00237	-	-	-	Cervical artery dissection	COSMIC,ICGC,
chr15	24517967	24517967	G	A	intergenic	PWRN2,PWRN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	ICGC,
chr5	140112552	140112552	G	T	intergenic	VTRNA1-3,PCDHA1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,normal phenotype	-,-	ICGC,
chr19	8997112	8997112	T	C	intronic	MUC16	unknown	SNV	-	-	4.062e-06	-	rs753357561	8.283e-06	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-	-	ICGC,
chr3	52764975	52764975	G	T	intronic	NEK4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19265707	-	CLLE-ES|1|510|0.00196	-	-	-	-	COSMIC,ICGC,
chr3	130143749	130143749	T	G	intronic	COL6A5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	Atopic dermatitis, association with	ICGC,
chr12	66072182	66072182	C	T	intergenic	LOC100507065,RPSAP52	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	56916439	56916448	AGTGTGTGTG	-	intergenic	CEP135,KIAA1211	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	Microcephaly  ,-	ICGC,
chr13	72582057	72582057	A	T	intergenic	DACH1,MZT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Renal hypodysplasia,-	ICGC,
chr11	21830905	21830913	CAAACAAAC	-	intergenic	NELL1,ANO5	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	mortality/aging,-	Crohn disease, association with,Persistent asymptomatic hyperCKemia|Myopathy of posterior calf muscles, late-onset|Myopathy / muscular dystrophy|Myopathy  |Muscular dystrophy, limb girdle 2L.|Muscular dystrophy, limb girdle 2L|Muscular dystrophy  |Miyoshi-like distal myopathy|Miyoshi myopathy, non-dysferlin|Miyoshi distal myopathy.|Miyoshi distal myopathy|Gnathodiaphyseal dysplasia|Autism 	ICGC,
chr1	166068947	166068947	C	T	intronic	FAM78B	unknown	SNV	-	-	-	-	rs567235546	-	0.000199681	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr8	71376949	71376949	C	T	intergenic	NCOA2,LOC101926892	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	-,-	ICGC,
chr7	158668249	158668249	G	T	intronic	WDR60	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Short-rib polydactyly and Jeune syndrome|Short-rib polydactyly|Jeune syndrome	ICGC,
chr11	114419905	114419905	T	G	intronic	NXPE1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr2	115402357	115402357	C	T	intronic	DPP10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Autism spectrum disorder	ICGC,
chrX	124630030	124630030	A	-	intergenic	LOC100129520,LOC101928495	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr14	92029580	92029580	C	A	intergenic	SMEK1,CATSPERB	unknown	SNV	-	-	-	0.7114	rs1704636	-	0.774361	-	0.196	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr3	68788354	68788354	G	A	intronic	FAM19A4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr5	36070503	36070503	C	T	intergenic	UGT3A2,LMBRD2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	156099122	156099122	T	C	intronic	KCNAB1	unknown	SNV	-	-	-	3.23e-05	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	-	ICGC,
chr3	76857157	76857157	T	A	intergenic	ZNF717,ROBO2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,mortality/aging	Potential protein deficiency,Autism spectrum disorder  |Urinary tract anomalies|Vesicoureteral reflux	ICGC,
chr10	108596231	108596231	-	CA	intronic	SORCS1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	other phenotype	Autism 	ICGC,
chr5	104463058	104463058	A	G	intergenic	RAB9BP1,LOC102467213	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr20	47523959	47523959	A	C	intergenic	PREX1,ARFGEF2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26877293	-	UTCA-FR|1|20|0.05000	-	-	hematopoietic system phenotype,mortality/aging	-,Choreadystonic movement disorder and periventricular heterotopia|Periventricular heterotopia with microcephaly|West syndrome, microcephaly, periventricular heterotopia, small corpus callosum & psychomotor retardation	COSMIC,COSMIC,ICGC,
chr1	239012808	239012808	C	A	intergenic	LINC01139,CHRM3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,vision/eye phenotype	-,Autistic disorder|Bladder malformation|Diabetes, type 2, increased risk, association |Tetralogy of Fallot	ICGC,
chr7	81677634	81677634	C	T	intronic	CACNA2D1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	Short QT syndrome|Schizophrenia  |Histiocytoid cardiomyopathy|Epileptic encephalopathy  |Brugada syndrome    	ICGC,
chr9	79634867	79634867	C	T	exonic	FOXB2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSM4618877	-	-	-	-	-	-	COSMIC,COSMIC,COSMIC,
chr18	6789337	6789337	G	A	intergenic	C18orf64,ARHGAP28	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ORCA-IN|1|178|0.00562	-	-	-,-	-,-	ICGC,
chr12	96367600	96367600	-	TAAA	UTR3	HAL	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	homeostasis/metabolism phenotype	Potential protein deficiency|Infrarenal abdominal aortic calcified plaque, association with|Histidinaemia	ICGC,
chr2	80377684	80377684	C	T	intronic	CTNNA2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Schizophrenia	ICGC,
chr2	6524499	6524499	T	A	intergenic	LINC01247,LINC01246	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr21	24299698	24299698	G	A	intergenic	LINC00308,D21S2088E	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	-,-	-,-	ICGC,
chr13	63160062	63160062	C	T	intergenic	LINC00358,LINC00448	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr13	26606548	26606548	C	T	intergenic	ATP8A2,SHISA2	unknown	SNV	-	-	-	0.0108	rs75885716	-	0.0123802	-	0.014	COSN17981498	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	Mental retardation |Cerebellar ataxia, mental retardation and dysequilibrium syndrome,-	COSMIC,ICGC,
chr12	41227375	41227375	A	-	intronic	CNTN1	unknown	deletion	-	-	-	0.2615	rs34552699	-	0.21246	-	0.007	COSN24857296	-	PBCA-DE|1|499|0.00200	-	-	mortality/aging	Myopathy, lethal congenital|Pancreatic cancer 	COSMIC,ICGC,
chr1	57496767	57496767	T	C	intronic	DAB1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Syndromic cleft lip & palate	ICGC,
chr12	28564190	28564190	A	T	intronic	CCDC91	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr21	10153147	10153147	A	-	intergenic	TEKT4P2,TPTE	unknown	deletion	-	-	-	0.0006	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,Potential protein deficiency	ICGC,
chr1	22289312	22289312	A	-	intergenic	HSPG2,CELA3B	unknown	deletion	-	-	-	0.0036	-	-	-	-	-	COSN1098494	-	LINC-JP|1|394|0.00254	-	-	integument phenotype,-	Dyssegmental dysplasia, Silverman-Handmaker type|Schwartz-Jampel syndrome  |Schwartz-Jampel syndrome type 1,-	COSMIC,ICGC,
chr3	51718578	51718578	C	T	exonic	TEX264	synonymous	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr3	162649739	162649739	G	A	intergenic	OTOL1,LINC01192	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr8	14997826	14997826	G	T	intronic	SGCZ	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	-	Cervical artery dissection	ICGC,
chr2	22717371	22717371	G	A	intergenic	LOC645949,LOC102723362	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr16	7647726	7647726	T	-	intronic	RBFOX1	unknown	deletion	-	-	-	-	-	-	-	-	-	COSN1709141	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging	Muscular and feet abnormalities|Mental retardation|Epilepsy, rolandic  |Epilepsy|Developmental delay, facial dysmorphism  |Developmental delay and transposition of the great arteries|Developmental delay and diplegia|Developmental delay and craniosynostosis|Developmental delay  |Cardiac defects|Cardiac abnormalities, micrognathia and scoliosis|Autism spectrum disorder|Autism|Attention deficit hyperactivity disorder 	COSMIC,ICGC,
chr2	164748451	164748451	G	A	intergenic	FIGN,GRB14	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype,hematopoietic system phenotype	-,-	ICGC,
chr5	144437165	144437165	G	A	intergenic	KCTD16,PRELID2	unknown	SNV	-	-	-	0.3108	rs62392343	-	0.234026	-	0.370	COSN14763049	-	ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488	-	-	-,-	-,-	COSMIC,ICGC,
chr1	102717195	102717195	C	A	intergenic	OLFM3,COL11A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,Stickler syndrome, type 2|Stickler syndrome|Robin sequence |Osteoarthritis, early-onset|Marshall syndrome|Marshall / Stickler syndrome|Lumbar disc herniation, association with|Fibrochondrogenesis|Deafness  	ICGC,
chr1	169601697	169601697	A	C	intergenic	SELP,SELL	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17705074	-	-	-	-	integument phenotype,integument phenotype	Spontaneous abortion, recurrent, association with|Primary VF during acute MI, association|Potential protein deficiency|P-Selectin levels, association with|Myocardial infarction, lower risk, association|Low levels of P-selectin, association with|Incident coronary heart disease, increased risk in whites|Higher platelet SELP measures|Cell surface measures of SELP|Atopy, increased risk, association with,Ulcerative colitis and Crohn's disease, association with|Diabetes, type 2 and insulin resistance, association with|Diabetes, protection against, association with |Coronary heart disease, reduced risk, association with	COSMIC,
chr8	31642762	31642762	A	C	intronic	NRG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	integument phenotype	Sudden cardiac death, association with|Schizophrenia, association with  |Schizophrenia in African Americans, association with|Prepulse inhibition, association with|Perceptual aberration of schizotypal personality, association with|Increased lateral ventricle volume in schizophrenia|Hirschsprung disease|Developmental delay, hypotonia & microcephaly|Alzheimers disease, association with	ICGC,
chr3	21950682	21950682	A	C	intergenic	ZNF385D,ZNF385D-AS2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16052098	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	COSMIC,ICGC,
chr1	104322881	104322881	G	A	intergenic	AMY1A,LOC100129138	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN18885332	-	-	-	-	-,-	Obesity, increased risk,-	COSMIC,
chr8	41469463	41469463	A	G	exonic	AGPAT6	nonsynonymous	SNV	0.307	0.0	-	-	-	-	-	-	-	COSM3900161	STAD|1|395|0.00253,STES|1|395|0.00253	STAD-US|1|289|0.00346	-	-	integument phenotype	-	COSMIC,TCGA,ICGC,
chr10	68497054	68497054	G	A	intronic	CTNNA3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Tourette syndrome |Sinus venosus atrial septal defect|Neural tube defects|Cervical artery dissection|Autism spectrum disorder |Attention deficit hyperactivity disorder |Arrhythmogenic right ventricular cardiomyopathy|Alzheimer disease, increased risk, association with |Adenocarcinoma	ICGC,
chr16	65067555	65067555	G	A	intronic	CDH11	unknown	SNV	-	-	-	3.269e-05	-	-	-	-	-	COSN8235948	-	PACA-CA|1|268|0.00373	-	-	integument phenotype	-	COSMIC,COSMIC,ICGC,
chr3	54226435	54226435	G	A	intronic	CACNA2D3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Autism 	ICGC,
chr6	152804308	152804308	G	T	exonic	SYNE1	nonsynonymous	SNV	0.008	0.996	-	-	-	-	-	-	-	-	LIHC|1|373|0.00268	-	-	-	mortality/aging	Schizophrenia|Muscular dystrophy, Emery-Dreifuss|Intellectual disability, spastic paraplegia, axon neuropathy & leukoencephalopathy|Cerebellar ataxia|Cardiomyopathy, dilated|Autism spectrum disorder|Autism|Arthrogryposis multiplex congenita with axoglial defects|Arthrogryposis 	TCGA,
chr6	26112570	26112570	C	A	intergenic	HIST1H1T,HIST1H2BC	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7868723	-	PACA-AU|1|391|0.00256	-	-	reproductive system phenotype,-	-,-	COSMIC,ICGC,
chr1	161449167	161449167	G	A	intergenic	C1orf192,FCGR2A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	normal phenotype,mortality/aging	-,Kawasaki disease, susceptibility to|Lupus nephritis, protection against, association|Potential protein deficiency|Rheumatoid arthritis, association with|Severe falciparum malaria|Severe sepsis in community-acquired pneumonia, association with|Still's disease, chronic articular-type, association|Ulcerative colitis, association with|Unstable angina pectoris, association with|Kawasaki disease, association with.|Inflammatory bowel disease, association with|Infectious diseases, association with|Acute coronary syndromes, association with|Anaphylaxis, in hypogammaglobulinaemia, association with|Colorectal cancer progression, association with|Coronary heart disease, association with|Idiopathic pulmonary fibrosis severity and progression, association with|Immunoglobulin binding variant|Improved endothelial function in hypercholesterolaemia, association with|Increased risk of inhibitor development in haemophilia A patients, association with|Increased signal transduction activity	ICGC,
chr8	106926683	106926683	A	T	intergenic	ZFPM2,OXR1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,mortality/aging	Atrial septal defect & gonadal dysgenesis|Diaphragmatic hernia, congenital|Double outlet right ventricle |Gonadal dysgenesis |Reduced activity|Tetralogy of Fallot ,-	ICGC,
chr18	63369255	63369255	T	A	intergenic	LOC284294,CDH7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr13	54077409	54077409	G	A	intergenic	OLFM4,LINC00558	unknown	SNV	-	-	-	-	rs541136647	-	0.000199681	-	-	COSN7404624	-	PACA-AU|1|391|0.00256	-	-	hematopoietic system phenotype,-	Potential protein deficiency,-	COSMIC,ICGC,
chrX	78258606	78258606	A	G	intergenic	P2RY10,GPR174	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20246834	-	PACA-CA|1|268|0.00373	-	-	-,-	-,Graves' disease, increased risk|Graves' disease 	COSMIC,ICGC,
chr2	20673563	20673563	C	T	intergenic	RHOB,HS1BP3-IT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	vision/eye phenotype,-	Increased transcription|Osteoarthritis, association with,-	ICGC,
chr13	89504231	89504231	A	-	intergenic	LINC00433,LINC00353	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr1	214438731	214438731	A	G	intergenic	PROX1,SMYD2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24265241	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	mortality/aging,cardiovascular system phenotype	-,-	COSMIC,COSMIC,ICGC,
chr8	66071498	66071498	T	G	intergenic	CYP7B1,LINC00251	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,-	Spastic paraplegia 5a.|Spastic paraplegia 5a|Spastic paraplegia 5 with sensory ataxia|Spastic paraplegia 5|Spastic paraplegia|Increased transcriptional activity|HIV 1 infection, reduced risk, association with|Cholestasis, severe,-	ICGC,
chr18	67911851	67911851	T	C	intergenic	RTTN,SOCS6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	mortality/aging,hematopoietic system phenotype	Polymicrogyria  ,-	ICGC,
chr5	77648448	77648448	G	A	intergenic	AP3B1,SCAMP1-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Potential protein deficiency|Hermansky-Pudlak syndrome type 2|Hermansky-Pudlak syndrome,-	ICGC,
chr11	112547937	112547937	G	A	intergenic	LOC387810,LOC101928847	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6531173	-	PBCA-DE|1|499|0.00200	-	-	-,-	-,-	COSMIC,COSMIC,ICGC,
chr17	14855977	14855977	T	G	intergenic	HS3ST3B1,CDRT7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr13	90567335	90567335	G	T	intergenic	LINC00353,LINC00559	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr9	118720020	118720020	C	T	intergenic	LINC00474,PAPPA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,skeleton phenotype	-,-	ICGC,
chr11	38919607	38919607	G	A	intergenic	LOC101928536,LRRC4C	unknown	SNV	-	-	-	3.232e-05	rs150620065	-	0.000399361	-	-	-	-	SKCA-BR|2|100|0.02000,MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	149374518	149374518	G	A	exonic	TIGD6	nonsynonymous	SNV	0.011	0.997	4.883e-05	9.682e-05	rs147969507	6.625e-05	-	0.0005	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	Potential protein deficiency	ICGC,
chr2	83292235	83292235	G	A	intergenic	LOC1720,FUNDC2P2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	19092460	19092460	G	A	intergenic	NT5C1B-RDH14,MIR4757	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr12	27645742	27645742	C	A	intronic	SMCO2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	-	-	ICGC,
chr16	812702	812702	CCC	CTT	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	COSM4516918	-	-	-	-	-	-	COSMIC,COSMIC,
chr5	112980288	112980288	G	A	intergenic	YTHDC2,KCNN2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN28066886	-	PRAD-CA|1|308|0.00325	-	-	-,integument phenotype	-,-	COSMIC,ICGC,
chr18	68810138	68810138	C	T	intergenic	GTSCR1,LOC100505776	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr8	88315987	88315987	G	A	intronic	CNBD1	unknown	SNV	-	-	-	7.225e-05	rs543744411	-	0.00139776	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-	-	ICGC,
chr9	98901715	98901715	-	A	intergenic	LOC158434,HSD17B3	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|3|67|0.04478	-	-	-,-	-,Sexual ambiguity|Pseudohermaphroditism, male|Pseudohermaphroditism|Prostate cancer, susceptibility, association with|Isolated mild clitoral hypertrophy|Hypospadias, increased risk|17 beta-hydroxysteroid dehydrogenase 3 deficiency.|17 beta-hydroxysteroid dehydrogenase 3 deficiency	ICGC,
chr14	53692667	53692667	A	G	intergenic	LOC101927620,MIR5580	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5749527	-	LINC-JP|1|394|0.00254	-	-	-,-	-,-	COSMIC,ICGC,
chr6	87629345	87629345	T	C	intergenic	SNHG5,HTR1E	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17582961	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr12	9573384	9573384	C	T	ncRNA_intronic	DDX12P	unknown	SNV	-	-	-	9.736e-05	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr5	76061338	76061338	C	G	intergenic	F2R,F2RL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging,integument phenotype	Coronary heart disease, association with|Low platelet receptor density, association with|Venous thromboembolism, protection (male), association,Atopy, association with	ICGC,
chr7	96985087	96985087	G	T	intergenic	ACN9,TAC1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN14629536	-	PACA-AU|1|391|0.00256	-	-	-,integument phenotype	Long QT syndrome, drug-induced, increased risk,-	COSMIC,ICGC,
chr19	21476283	21476283	C	G	exonic	ZNF708	nonsynonymous	SNV	0.025	1.0	-	-	-	-	-	-	-	COSM1194707	-	-	-	-	-	-	COSMIC,
chr5	22623969	22623969	A	C	intronic	CDH12	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Lung cancer, susceptibility to, association with	ICGC,
chr1	31043195	31043195	C	A	intergenic	LOC101929406,MATN1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1102788	-	-	-	-	-,skeleton phenotype	-,-	COSMIC,
chr3	40907289	40907289	C	T	intergenic	ZNF621,CTNNB1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Intellectual disability, syndromic  |Intellectual disability|Developmental delay, neurodegeneration & hair/skin/facial anomalies|Colorectal adenoma|Autism	ICGC,
chr13	60627188	60627188	C	T	intronic	DIAPH3	unknown	SNV	-	-	-	3.314e-05	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	Autism  |Auditory neuropathy spectrum disorder|Auditory neuropathy	ICGC,
chr3	154490923	154490923	C	A	intergenic	GPR149,MME	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	reproductive system phenotype,integument phenotype	-,Alzheimer disease, association with|Anxiety, association with|Cerebral amyloid angiopathy, severity, association with|Fetomaternal alloimmunisation|Increased enzyme activity|Reduced enzyme activity	ICGC,
chr18	5626138	5626138	T	A	intronic	EPB41L3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Potential protein deficiency	ICGC,
chr7	78668340	78668340	C	T	intronic	MAGI2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging	Seizures|Schizophrenia|Myoclonic epilepsy |Infantile spasms in Williams-Beuren syndrome|Infantile spasms|Developmental delay & microcephaly|Developmental delay  |Developmental and/or speech and/or behavioural problems	ICGC,
chr1	68490034	68490034	G	T	ncRNA_intronic	GNG12-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16046192	-	PACA-CA|1|268|0.00373	-	-	-	-	COSMIC,ICGC,
chr8	54602688	54602688	G	A	intergenic	OPRK1,ATP6V1H	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype,-	Alcohol dependence, association with|Opiate addiction, association with ,Schizophrenia  	ICGC,
chr6	74811713	74811713	C	T	ncRNA_intronic	LOC101928516	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr16	61195149	61195149	A	T	intergenic	LOC729159,CDH8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,integument phenotype	-,Learning disability  |Autism & learning disability 	ICGC,
chr10	130361553	130361553	G	A	intergenic	LINC01163,MGMT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,mortality/aging	-,MGMT methylation in malignant pleural mesothelioma, association with|Non-Hodgkin lymphoma, increased risk|Pancreatic cancer, increased risk, association with|Promoter methylation and longer survival in glioblastoma patients, association with|Promoter methylation in colorectal cancer |MGMT methylation in lung cancer, increased risk, association with|MGMT methylation in colorectal cancer, association with|Lung cancer, risk, association with|Glioblastoma, reduced risk, association with |Endometrial cancer risk, association with|Cervical carcinoma, increased risk, association with|Cancer, increased risk|Altered enzyme activity	ICGC,
chr6	166344382	166344382	C	T	ncRNA_intronic	LINC00473	unknown	SNV	-	-	-	0.0001	rs549758849	-	0.000599042	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	-	-	ICGC,
chr3	75024170	75024170	G	A	intergenic	CNTN3,MIR4444-1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25672772	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	COSMIC,ICGC,
chr19	9064269	9064269	G	A	exonic	MUC16	nonsynonymous	SNV	0.885	0.0	2.038e-05	-	-	-	-	-	-	COSM4083334	STAD|1|395|0.00253,STES|1|395|0.00253	ESCA-CN|1|332|0.00301,STAD-US|1|289|0.00346	-	-	-	-	COSMIC,COSMIC,COSMIC,TCGA,ICGC,
chr5	177737676	177737676	T	C	intronic	COL23A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr17	77849577	77849577	C	T	intergenic	CBX4,LOC101928766	unknown	SNV	-	-	-	0.0536	rs80207450	-	0.0563099	-	0.065	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Autism ,-	ICGC,
chr10	82916684	82916684	A	C	intergenic	SH2D4B,NRG3	unknown	SNV	-	-	-	3.262e-05	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	-,Schizophrenia, association with |Increased ventrolateral PFC activation|Hirschsprung disease  	ICGC,
chr6	141672868	141672868	T	C	intergenic	MIR4465,NMBR	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27030977	-	ESAD-UK|1|301|0.00332	-	-	-,behavior/neurological phenotype	-,-	COSMIC,ICGC,
chr13	86535019	86535019	G	A	intergenic	SLITRK6,MIR4500HG	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	behavior/neurological phenotype,-	High myopia and sensorineural deafness,-	ICGC,
chr14	38870630	38870630	G	A	intergenic	CLEC14A,LINC00639	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	79642150	79642150	C	T	intergenic	LINC01094,BMP2K	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,High myopia, increased risk, association with	ICGC,
chr5	177467922	177467922	G	A	ncRNA_intronic	FAM153C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr7	128368114	128368114	A	C	intronic	FAM71F1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7959541	-	PACA-AU|1|391|0.00256	-	-	-	-	COSMIC,ICGC,
chrX	140513621	140513621	-	TAAAATAAAATAAA	intergenic	LDOC1,SPANXA2-OT1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr3	134533129	134533129	T	G	intronic	EPHB1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	vision/eye phenotype	-	ICGC,
chr13	64452929	64452929	A	T	intergenic	OR7E156P,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	ICGC,
chr8	96262829	96262829	A	C	intronic	C8orf37	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	Cone-rod dystrophy|Retinitis pigmentosa	ICGC,
chr18	44034196	44034196	C	T	intronic	RNF165	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr4	77665833	77665833	G	A	intronic	SHROOM3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging	Heterotaxy |Leukemia, risk, association with 	ICGC,
chr11	47220779	47220779	G	A	intergenic	PACSIN3,DDB2	unknown	SNV	-	-	-	0.0009	rs112191978	-	-	-	-	COSN23439033	-	EOPC-DE|1|202|0.00495	-	-	-,integument phenotype	-,Xeroderma pigmentosum (E) 	COSMIC,ICGC,
chr5	107144050	107144050	T	C	intergenic	EFNA5,FBXL17	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging,-	-,-	ICGC,
chr16	71163701	71163701	C	T	exonic	HYDIN	nonsynonymous	SNV	0.03	0.095	-	-	-	-	-	-	-	COSM3511731	-	SKCM-US|1|335|0.00299	-	-	mortality/aging	Primary ciliary dyskinesia|Autism spectrum disorder	COSMIC,COSMIC,COSMIC,COSMIC,COSMIC,COSMIC,ICGC,
chr1	89471552	89471552	G	A	downstream	GBP3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr7	52566840	52566840	-	CTA	intergenic	COBL,POM121L12	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	nervous system phenotype,-	-,-	ICGC,
chr22	25152461	25152461	C	T	exonic	PIWIL3	synonymous	SNV	-	-	4.068e-06	-	rs375546009	8.659e-06	-	7.7e-05	-	COSM3552679	SKCM|1|368|0.00272	SKCM-US|1|335|0.00299	-	-	-	Oligospermia, reduced risk, association with	COSMIC,TCGA,ICGC,
chr14	47241746	47241746	G	A	intergenic	RPL10L,MDGA2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,skeleton phenotype	-,-	ICGC,
chr3	76520868	76520868	T	C	intergenic	ZNF717,ROBO2	unknown	SNV	-	-	-	0.6309	rs7644651	-	0.631989	-	0.667	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	Potential protein deficiency,Autism spectrum disorder  |Urinary tract anomalies|Vesicoureteral reflux	ICGC,
chr6	76103108	76103108	C	T	intronic	FILIP1	unknown	SNV	-	-	-	3.238e-05	rs190931190	-	0.000199681	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Schizophrenia  	ICGC,
chr12	43312188	43312188	T	G	intergenic	LOC101927058,ADAMTS20	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,integument phenotype	-,-	ICGC,
chr1	36374580	36374580	C	T	intronic	AGO1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-	-	ICGC,
chr8	77267241	77267241	A	T	intergenic	HNF4G,LINC01111	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN28156691	-	PRAD-CA|1|308|0.00325	-	-	respiratory system phenotype,-	-,-	COSMIC,ICGC,
chr10	85516203	85516203	G	A	intergenic	NRG3,GHITM	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Schizophrenia, association with |Increased ventrolateral PFC activation|Hirschsprung disease  ,-	ICGC,
chr17	54766874	54766874	G	A	intergenic	NOG,C17orf67	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Teunissen-Cremers syndrome|Tarsal/carpal coalition syndrome|Symphalangism, proximal & conductive hearing loss|Symphalangism, proximal|Symphalangism, joint contractures, hyperopia, hearing loss & tracheo-oesophageal fistula|Symphalangism, facial dysmorphology, intellectual disability, ADHD & hearing loss|Stapes ankylosis with broad thumb and toes|Premature ovarian failure and proximal symphalangism|Multiple synostosis syndrome 1, facial dysmorphism & mental retardation|Multiple synostoses syndrome|Fibrodysplasia ossificans progressiva|Facioaudiosymphalangism syndrome|Brachydactyly, type B,-	ICGC,
chr15	99925952	99925952	T	-	intronic	LRRC28	unknown	deletion	-	-	-	0.0087	rs796708748	-	-	-	0.014	-	-	BTCA-SG|1|71|0.01408	-	-	-	-	ICGC,
chr5	126492706	126492706	A	G	intergenic	C5orf63,MEGF10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,vision/eye phenotype	-,EMARDD|Myopathy, with minicores	ICGC,
chr2	162156779	162156779	G	A	intergenic	LOC101929512,PSMD14	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chrY	23031771	23031771	C	T	intergenic	RPS4Y2,PRORY	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	50019382	50019382	G	A	intergenic	FSHR,NRXN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,mortality/aging	Ovarian hyperstimulation syndrome|Ovarian hyperstimulation syndrome, association with|PCOS, association|PCOS, association with|Poor ovarian response to gonadotrophin stimulation, association|Premature ovarian failure|Premature ovarian failure, association with|Premature ovarian failure, early-onset|Primary amenorrhea|Reduced mRNA and protein expression, association with|Secondary amenorrhea|Serum FSH levels, association with|Sterility|Twinning, dizygotic|Ovarian hyperstimulation response, association with|Ovarian cancer, association with|Ovarian cancer susceptibility, association with|Decr. total testes volume and altered serum reproductive hormone levels, in men, association with.|Decreased promoter activity|Endometriosis risk, association with|Endometriosis, risk, association with|FSHR activation|FSHR inactivation|Hormone levels in PCOS, association with|Hypergonadotropic hypogonadism|Menstrual cycle, length, association with|Lower basal FSH level, association with|Increased serum FSH levels, association with|Increased promoter activity|Hypertension, female, association with|Hypergonadotropic ovarian failure,Hypotonia|Hypotonia & encephalopathy|Increased white matter volume, association with|Intellectual disability  |Intellectual disability & attention deficit hyperactivity disorder|Intellectual disability & hearing loss|Intellectual disability & pervasive developmental disorder|Intellectual disability and autism|Intellectual disability, nonsyndromic |Intellectual disability, seizures, dysmorphisms & language delay|Growth retardation  |Epilepsy, myoclonic seizures & speech delay|Developmental disorder|Developmental disorder & attention deficit hyperactivity disorder|Developmental disorder, seizures & attention deficit hyperactivity disorder|Developmental/intellectual disability, hypotonia & dysmorphic features|Disorder of muscle, ligament & fascia|Encephalopathy  |Epilepsy  |Epilepsy with cognitive impairment / autism spectrum disorder|Epilepsy with focal seizures|Epilepsy, generalised |Intellectual disability, seizures, language delay & hypotonia|Language delay|Learning difficulties|Respiratory distress & sepsis|Respiratory distress syndrome|Schizophrenia |Schizophrenia, childhood onset |Schizophrenia, disorganised type|Seizures, generalized tonic-clonic & attention deficit hyperactivity disorder|Sensory integration disorder & attention deficit hyperactivity disorder|Speech delay & social communication difficulties|Tourette syndrome|Pervasive developmental disorder / hypotonia|Pervasive developmental disorder|Pervasive developmental delay / mental retardation, lack of coordination & hearing loss|Learning difficulties, ADHD & autism|Mental retardation|Mental retardation, autism, vertebral malformations|Mental retardation, Pitt-Hopkins-like|Microcephaly & mental retardation|Multiple congenital anomalies  |Multiple disabilities|Myoclonic epilepsy   |Neurodevelopmental disorder  |Vertebral anomalies|Developmental delay, speech delay & social communication difficulties|Attention deficit hyperactivity disorder |Autism spectrum disorder, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability & language delay|Autism spectrum disorder, intellectual disability, dysmorphisms, developmental delay & language delay|Autism spectrum disorder, intellectual disability, seizures & developmental delay|Autism spectrum disorder, intellectual disability, seizures, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability, seizures, dysmorphisms & language delay|Autism spectrum disorder, seizures, developmental delay & language delay|Autism, intellectual disability & attention deficit hyperactivity disorder|Autistic disorder|Autism spectrum disorder with developmental & speech delay|Autism spectrum disorder & seizures|Autism spectrum disorder & language delay|Autism |Autism & learning difficulties|Autism & mental retardation|Autism & seizures|Autism spectrum disorder|Autism spectrum disorder & attention deficit hyperactivity disorder|Autism spectrum disorder & developmental delay|Autism spectrum disorder & dysmorphic features|Autism spectrum disorder & intellectual disability|Behavioural problems|Congenital heart defect  |Craniofacial dysmorphism|Developmental delay & speech/motor delay|Developmental delay with early-onset epilepsy|Developmental delay, dysmorphic features & short stature|Developmental delay, epilepsy, autism|Developmental delay, language delay & hypotonia|Developmental delay, learning difficulties, ADHD|Developmental delay, microcephaly & behavioural problems|Developmental delay, pulmonic stenosis & autism spectrum disorder|Developmental delay, short stature and diaphragmatic hernia|Developmental delay, speech delay & microcephaly|Developmental delay & seizures|Developmental delay & seizure disorder|Cystic hygroma, hydrops & micrognathia|Cystic hygroma, shortened upper limbs & fetal demise|Developmental & speech delay|Developmental delay|Developmental delay / autism|Developmental delay & autism|Developmental delay & dysmorphic features|Developmental delay & epilepsy|Developmental delay & hypotonia|Developmental delay & multiple congenital anomalies	ICGC,
chr6	63222066	63222066	G	A	intergenic	KHDRBS2,LGSN	unknown	SNV	-	-	-	6.461e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	82433467	82433467	G	A	intergenic	GBE1,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN18977654	-	CLLE-ES|1|510|0.00196	-	-	mortality/aging,-	Potential protein deficiency|Polyglucosan body disease, relapsing-remitting form|Polyglucosan body disease, adult|Lethal multiple pterygium syndrome|Glycogen storage disease 4, non-lethal neuromuscular|Glycogen storage disease 4, neonatal|Glycogen storage disease 4|Autism spectrum disorder|Adult polyglucosan body disease,-	COSMIC,ICGC,
chr2	129362291	129362291	G	T	intergenic	HS6ST1,LOC101927881	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7336385	-	PAEN-AU|1|52|0.01923	-	-	mortality/aging,-	Potential protein deficiency|Kallmann syndrome|Hypogonadotropic hypogonadism, idiopathic,-	COSMIC,COSMIC,ICGC,
chr10	106309845	106309845	C	A	intergenic	LOC101927523,SORCS3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	-,-	-,-	ICGC,
chr9	76339372	76339372	G	A	intergenic	ANXA1,MIR6130	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Autism spectrum disorder,-	ICGC,
chr11	76564722	76564722	A	-	intergenic	TSKU,ACER3	unknown	deletion	-	-	-	-	rs34974433	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	nervous system phenotype,-	-,-	ICGC,
chr7	68306513	68306513	G	A	intergenic	LOC102723427,LOC100507468	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	ICGC,
chr6	100957037	100957037	C	G	UTR3	ASCC3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	other phenotype	Colorectal cancer, increased risk, association with|Intellectual disability  	ICGC,
chr5	87044815	87044815	G	T	intergenic	CCNH,TMEM161B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	ICGC,
chr16	10779791	10779791	C	T	intronic	TEKT5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr5	41465749	41465749	C	T	intronic	PLCXD3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr20	31023040	31023040	A	-	exonic	ASXL1	frameshift	deletion	-	-	-	-	-	-	-	-	-	COSM96395	-	-	-	-	mortality/aging	Systemic mastocytosis with associated non-mast cell lineage disease|Schizophrenia|Facial dysmorphism with ridging of the metopic suture, developmental delay & short hands|Bohring-Opitz syndrome	COSMIC,
chr12	84872180	84872180	A	C	intergenic	TMTC2,SLC6A15	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,reproductive system phenotype	-,Increased maximal 3H proline uptake	ICGC,
chr17	43723920	43723920	G	A	intronic	CRHR1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging	Panic disorder, association with |Infantile spasms|Increased body mass index, association with	ICGC,
chr9	133759759	133759759	C	T	exonic	ABL1	synonymous	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	mortality/aging	-	ICGC,
chr6	14162094	14162094	G	A	intergenic	CD83,LINC01108	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype,-	-,-	ICGC,
chr1	199753349	199753349	T	A	intergenic	LINC01222,NR5A2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21113036	-	BRCA-UK|1|141|0.00709,BRCA-EU|1|569|0.00176	-	-	-,mortality/aging	-,-	COSMIC,ICGC,
chr1	72516400	72516400	T	C	intronic	NEGR1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	behavior/neurological phenotype	Obesity, association with|Dyslexia |Body mass index, association with|Attention deficit hyperactivity disorder	ICGC,
chr13	111874066	111874066	-	CCAT	intronic	ARHGEF7	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	Altered p53 binding	ICGC,
chr1	69090739	69090739	G	A	intergenic	DEPDC1-AS1,LRRC7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,-	ICGC,
chr11	2208619	2208619	-	CAAACCACAGA	intergenic	MIR4686,ASCL2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,mortality/aging	-,-	ICGC,
chr8	68419967	68419967	G	A	intronic	CPA6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Temporal lobe epilepsy, association with|Temporal lobe epilepsy|Reduced protein expression|Reduced activity|Potential protein deficiency|Febrile seizures|Duane retraction syndrome 1	ICGC,
chr8	112929088	112929088	A	C	intergenic	KCNV1,CSMD3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	behavior/neurological phenotype,-	-,Schizophrenia  |Colorectal cancer 	ICGC,
chr5	126842798	126842798	-	GTGTCTGTGTGTGT	intergenic	MEGF10,PRRC1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	vision/eye phenotype,-	EMARDD|Myopathy, with minicores,-	ICGC,
chr5	45971727	45971727	T	C	intergenic	HCN1,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	integument phenotype,-	Idiopathic epilepsy, generalised ,-	ICGC,
chr15	42099418	42099418	-	AC	intronic	MAPKBP1	unknown	insertion	-	-	-	3.24e-05	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332,LIRI-JP|1|258|0.00388	-	-	-	-	ICGC,
chr3	153399088	153399088	T	C	intergenic	C3orf79,ARHGEF26-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr8	138841699	138841699	T	C	intergenic	NONE,FAM135B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	ICGC,
chr4	81608072	81608072	C	A	intronic	C4orf22	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr4	134089451	134089451	T	-	intronic	PCDH10	unknown	deletion	-	-	-	0.0003	rs570090114	-	0.000399361	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	mortality/aging	Schizophrenia|Potential protein deficiency	ICGC,
chr3	128181721	128181721	C	T	exonic	DNAJB8	nonsynonymous	SNV	0.54	0.913	5.284e-05	-	rs747873989	4.946e-05	-	-	-	COSM4761184	-	COCA-CN|1|321|0.00312	-	-	-	-	COSMIC,ICGC,
chr9	113933705	113933705	G	C	intergenic	LPAR1,MIR7702	unknown	SNV	-	-	-	0.2251	rs12347716	-	0.137181	-	0.181	-	-	ESAD-UK|2|301|0.00664	-	-	mortality/aging,-	Knee osteoarthritis, susceptibility to, association|Increased peripheral blood monocyte counts, association with,-	ICGC,
chr3	159055267	159055267	G	T	intronic	IQCJ-SCHIP1,SCHIP1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20292113	-	LUSC-KR|1|170|0.00588	-	-	-,mortality/aging	-,-	COSMIC,ICGC,
chr3	22855640	22855640	C	T	intergenic	ZNF385D-AS2,UBE2E2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	170319955	170319955	T	G	intergenic	SLC7A14,RPL22L1	unknown	SNV	-	-	-	0.2338	rs6765565	-	0.23742	-	0.174	-	-	LAML-KR|1|205|0.00488	-	-	-,-	Retinitis pigmentosa,-	ICGC,
chr2	81777127	81777127	G	A	intergenic	LOC100507201,LOC1720	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr19	47281927	47281927	C	T	intronic	SLC1A5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-	-	ICGC,
chr10	4370509	4370509	A	T	intergenic	LINC00702,LINC00703	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	RECA-EU|1|422|0.00237	-	-	-,-	-,-	ICGC,
chr12	114477486	114477486	CC	GT	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chrX	143655106	143655106	G	A	intergenic	UBE2NL,SPANXN1	unknown	SNV	-	-	-	4.644e-05	rs782132204	-	0.000529801	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Potential protein deficiency,-	ICGC,
chr20	33942286	33942286	G	A	intronic	UQCC1	unknown	SNV	-	-	-	3.258e-05	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr17	65996882	65996882	C	T	intergenic	C17orf58,KPNA2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chrX	123463064	123463064	G	T	intergenic	STAG2,SH2D1A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24887026	-	PBCA-DE|1|499|0.00200	-	-	-,hematopoietic system phenotype	-,Non-Hodgkin lymphoma|Lymphoproliferative syndrome, X-linked type 1.|Lymphoproliferative syndrome, X-linked type 1|Lymphoproliferative syndrome, X-linked|Lymphoproliferative syndrome, in males, association with|Immunodeficiency syndrome, common variable|Haemophagocytic lymphohistiocytosis	COSMIC,ICGC,
chr1	34137057	34137057	G	A	intronic	CSMD2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Schizophrenia	ICGC,
chr10	353618	353618	G	A	intronic	DIP2C	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27185809	-	PRAD-CA|1|308|0.00325	-	-	-	Autism	COSMIC,ICGC,
chr12	19475143	19475143	T	G	intronic	PLEKHA5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	reproductive system phenotype	-	ICGC,
chr16	61821815	61821815	A	G	intronic	CDH8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Learning disability  |Autism & learning disability 	ICGC,
chr4	52662078	52662078	G	A	intergenic	NONE,DCUN1D4	unknown	SNV	-	-	-	0.0001	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|2|183|0.01093	-	-	-,-	-,-	ICGC,
chr7	136177829	136177829	G	C	intergenic	LUZP6,CHRM2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21364875	-	BRCA-EU|1|569|0.00176	-	-	-,integument phenotype	-,Reduced expression|Major depression in women, association with|Cardiomyopathy, dilated	COSMIC,ICGC,
chrX	57397940	57397940	C	T	intronic	FAAH2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Intellectual disability, X-linked|Autism spectrum disorder	ICGC,
chr8	109878766	109878766	A	C	intergenic	TMEM74,TRHR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,reproductive system phenotype	-,Essential hypertension, association with|Isolated central hypothyroidism|Schizophrenia	ICGC,
chr11	74156967	74156967	G	T	intergenic	PGM2L1,KCNE3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,respiratory system phenotype	-,Periodic paralysis|Meniere's disease, association with |Long QT syndrome|Brugada syndrome  |Atrial fibrillation, familial|Atrial fibrillation|Arrhythmia  	ICGC,
chr2	76403135	76403135	G	T	intergenic	GCFC2,LRRTM4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	ICGC,
chr15	102296267	102296267	T	G	intergenic	TARSL2,OR4F6	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5266189	-	-	-	-	-,-	-,-	COSMIC,
chrX	104390904	104390904	T	C	intronic	IL1RAPL2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr19	7173343	7173343	T	C	intronic	INSR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	mortality/aging	Insulin resistance A|Leprechaunism|Obesity & learning disability|Polycystic ovary syndrome, in lean women, association with|Potential protein deficiency|Rabson-Mendenhall syndrome|Rabson-Mendenhall syndrome.|Reduced diastolic blood pressure, association with|Insulin resistance|Fibre-type disproportion myopathy, congenital|Acanthosis nigricans|Acanthosis nigricans, insulin related|Colorectal cancer, increased risk, association with |Diabetes mellitus, type 2, association with|Diabetes, NIDDM|Diabetes, type 2, association with|Diabetes, type 2, protection against|Donohue syndrome.	ICGC,
chr17	21838708	21838708	-	TTTT	intergenic	FAM27L,FLJ36000	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	Glaucoma, primary open angle ,-	ICGC,
chr1	78600086	78600086	T	G	intronic	GIPC2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5377331	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr1	193711166	193711166	C	T	intergenic	CDC73,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Potential protein deficiency|Parathyroid carcinoma/adenoma|Parathyroid carcinoma.|Parathyroid carcinoma|Parathyroid cancer|Parathyroid adenoma.|Parathyroid adenoma |Hyperparathyroidism, primary.|Hyperparathyroidism, primary|Hyperparathyroidism, isolated|Hyperparathyroidism-jaw tumour syndrome.|Hyperparathyroidism-jaw tumour syndrome,-	ICGC,
chrX	34876799	34876799	A	C	intergenic	TMEM47,FAM47B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	Intellectual disability & language delay,Potential protein deficiency	ICGC,
chr1	16837423	16837423	A	T	intergenic	CROCCP3,MIR3675	unknown	SNV	-	-	-	0.0001	rs111877915	-	-	-	-	COSN19679942	-	COCA-CN|1|321|0.00312	-	-	-,-	-,-	COSMIC,ICGC,
chr21	16383785	16383785	C	T	intronic	NRIP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	reproductive system phenotype	Lung cancer, susceptibility to, association with	ICGC,
chrX	107522122	107522122	A	T	intronic	COL4A6	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26618124	-	LICA-CN|1|402|0.00249	-	-	normal phenotype	Premature ovarian failure |Nonsyndromic hearing loss, X-linked|Diffuse leiomyomatosis in Alport syndrome	COSMIC,ICGC,
chr5	102675401	102675401	T	C	intergenic	C5orf30,LOC102467212	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PEME-CA|1|112|0.00893	-	-	-,-	-,-	ICGC,
chr6	66699700	66699700	C	A	intergenic	SLC25A51P1,NONE	unknown	SNV	-	-	-	0.2804	rs9445639	-	0.287939	-	0.290	-	-	LAML-KR|1|205|0.00488	-	-	-,-	-,-	ICGC,
chr10	51093250	51093250	T	C	exonic	PARG	nonsynonymous	SNV	-	0.168	-	-	-	-	-	-	-	COSM3978597	-	LUSC-KR|1|170|0.00588	-	-	mortality/aging	-	COSMIC,ICGC,
chr1	73302525	73302525	C	T	intergenic	NEGR1,LINC01360	unknown	SNV	-	-	-	6.467e-05	rs551973988	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	behavior/neurological phenotype,-	Obesity, association with|Dyslexia |Body mass index, association with|Attention deficit hyperactivity disorder,-	ICGC,
chrX	32275181	32275181	A	G	intronic	DMD	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	mortality/aging	Muscular dystrophy, Duchenne & Charcot-Marie-Tooth disease|Muscular dystrophy, Duchenne & autism|Muscular dystrophy, Duchenne|Muscular dystrophy, Becker.|Muscular dystrophy, Becker with cognitive impairment|Muscular dystrophy, Becker|Muscular dystrophy, Duchenne-like|Muscular dystrophy, Duchenne, epilepsy, macroglossia and mental retardation|Muscular dystrophy, Duchenne.|Muscular dystrophy, Duchenne/Becker|Muscular dystrophy, intermediate|Myopathy  |Potential protein deficiency|Schizophrenia|Muscular dystrophy, atypical|Muscular dystrophy & intellectual disability|Muscular dystrophy|Autism & neuromotor delay|Autism spectrum disorder|Behavioural issues|Cardiomyopathy, dilated|Cardiomyopathy, dilated, X-linked|Cardiomyopathy, dilated.|Dystrophinopathy|Elevated creatine kinase level|Mild Becker muscular dystrophy|Mental retardation, X-linked|Isolated cardiomyopathy|Increased serum creatine kinase levels|Global developmental delay/intellectual disability|Exertional myalgia, muscle stiffness & myoglobinuria	ICGC,
chr1	200028167	200028167	G	A	intronic	NR5A2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	mortality/aging	-	ICGC,
chr3	102497162	102497162	A	T	intergenic	ZPLD1,MIR548A3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Cerebral cavernous malformations,-	ICGC,
chr4	31672551	31672551	T	C	intergenic	PCDH7,NONE	unknown	SNV	-	-	-	0.7212	rs10001398	-	0.683706	-	0.746	-	-	LAML-KR|1|205|0.00488	-	-	-,-	-,-	ICGC,
chr4	146976256	146976256	C	T	intergenic	ZNF827,LINC01095	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr12	18015935	18015935	C	T	intergenic	MIR3974,RERGL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Colorectal cancer 	ICGC,
chr2	97472778	97472778	G	T	intronic	CNNM4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BOCA-UK|1|130|0.00769	-	-	-	Cone-rod dystrophy|Cone-rod dystrophy with amelogenesis imperfecta	ICGC,
chr3	129103625	129103625	G	C	ncRNA_intronic	RPL32P3	unknown	SNV	-	-	-	-	rs541582312	-	0.000199681	-	-	COSN26282070	-	PRAD-UK|1|140|0.00714	-	-	-	-	COSMIC,ICGC,
chr3	133078398	133078398	A	G	intronic	TMEM108	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr16	76615689	76615689	C	T	intergenic	CNTNAP4,LOC101928203	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Autism,-	ICGC,
chr12	6939904	6939904	C	G	exonic	LEPREL2	unknown	SNV	-	0.996	-	-	-	-	-	-	-	COSM5966470	-	-	-	-	-	-	COSMIC,COSMIC,
chr5	32471558	32471558	T	C	intergenic	ZFR,SUB1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17292739	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	Spastic paraplegia 71|Schizophrenia,-	COSMIC,ICGC,
chr5	33682785	33682785	T	C	intronic	ADAMTS12	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	cardiovascular system phenotype	-	ICGC,
chr1	48155904	48155904	T	A	intergenic	FOXD2,TRABD2B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN14624507	-	PACA-AU|1|391|0.00256	-	-	renal/urinary system phenotype,-	-,-	COSMIC,COSMIC,COSMIC,COSMIC,COSMIC,ICGC,
chr4	188891246	188891246	C	T	intergenic	LOC100506272,ZFP42	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,mortality/aging	-,-	ICGC,
chr7	70634245	70634245	C	T	intronic	WBSCR17	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chrX	110454127	110454127	A	T	intronic	PAK3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	behavior/neurological phenotype	Mental retardation syndrome, X-linked|Mental retardation with neuropsychiatric features	ICGC,
chr7	55421689	55421689	T	A	intergenic	ELDR,LANCL2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr5	90220825	90220825	A	G	intronic	GPR98	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	mortality/aging	Usher syndrome 3|Usher syndrome 2|Usher syndrome 1|Usher syndrome|Retinitis pigmentosa|Hearing loss, progressive  |Febrile and afebrile seizures|Deafness, non-syndromic|Deafness  |Autism	ICGC,
chr7	42161930	42161930	T	A	intronic	GLI3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	integument phenotype	Postaxial polydactyly A/B|Postaxial polydactyly B|Preaxial polydactyly|Preaxial polydactyly IV|Preaxial polydactyly IV.|Schizophrenia|Sub-Greig cephalopolysyndactyly syndrome|Sub-Pallister-Hall syndrome|Talipes equinovarus, congential idiopathic, association with |Tooth agenesis, association with|Postaxial polydactyly A |Pallister-Hall syndrome with genital abnormalities|Acrocallosal syndrome|Broad thumbs, postaxial polydactyly & variable syndactyly of hands/feet|Digital anomalies|Greig cephalopolysyndactyly syndrome|Greig cephalopolysyndactyly syndrome & cerebral cavernous malformations|Greig cephalopolysyndactyly syndrome with MODY2|Hypodontia, non-syndromic, association with.|Metopic craniosynostosis|Oral-facial-digital syndrome|Pallister-Hall syndrome	ICGC,
chr4	164925398	164925398	C	T	intronic	MARCH1	unknown	SNV	-	-	-	-	rs62348096	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype	-	ICGC,
chr11	13902488	13902488	C	T	intergenic	FAR1,SPON1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr7	48155099	48155099	C	G	intergenic	UPP1,ABCA13	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9991204	-	OV-AU|1|93|0.01075	-	-	skeleton phenotype,-	-,Schizophrenia / depression|Schizophrenia / bipolar disorder / depression |Schizophrenia  |Bipolar disorder  |Autism|Anorectal malformation	COSMIC,ICGC,
chr5	3153880	3153880	G	C	intergenic	C5orf38,LINC01377	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20704286	-	BRCA-UK|1|141|0.00709,BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr3	18716283	18716283	A	T	intergenic	SATB1,KCNH8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	-,-	ICGC,
chr2	126201373	126201373	T	C	intergenic	CNTNAP5,GYPC	unknown	SNV	-	-	-	0.1921	rs13401323	-	0.403754	-	0.319	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	Autism,Glycophorin C variant|Gerbich-negative blood group|Elliptocytosis|Duch blood group	ICGC,
chr10	29255687	29255687	-	ATAG	intergenic	C10orf126,LYZL1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|2|67|0.02985	-	-	-,-	-,-	ICGC,
chr2	18496369	18496369	A	G	intergenic	KCNS3,NT5C1B-RDH14	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	Airway hyperresponsiveness, association with ,-	ICGC,
chr21	24109081	24109081	T	G	intergenic	LINC00308,D21S2088E	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr15	83426440	83426440	A	G	UTR3	FSD2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr13	30087925	30087925	GG	AA	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr2	89199955	89199955	G	A	intergenic	MIR4436A,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	186387060	186387060	G	A	intergenic	ZNF804A,LOC101927196	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Neurodevelopmental disease|Reduced cortical gray matter thickness|Schizophrenia and bipolar disorder, association with|Schizophrenia, association with  ,-	ICGC,
chr7	156712586	156712586	G	C	intergenic	LMBR1,NOM1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15195407	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	Preaxial polydactyly|Acheiropodia,-	COSMIC,ICGC,
chr18	30405051	30405051	G	A	intergenic	KLHL14,CCDC178	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	112846211	112846211	C	A	intergenic	MCC,YTHDC2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22982937	-	PAEN-IT|1|37|0.02703	-	-	normal phenotype,-	-,-	COSMIC,ICGC,
chr5	62333166	62333166	C	T	intergenic	IPO11,HTR1A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Tourette syndrome |Reduced expression|Personality disorders, association with.|Menstrual cycle-dependent fever|Major depression and suicide, association with|Major depression|Impulsive behaviour, association with|Epileptic seizures |Comorbid depression and generalized anxiety, association with|Attenuated agonist-mediated receptor down-regulation and desensitization	ICGC,
chr1	181925629	181925629	C	T	intergenic	CACNA1E,ZNF648	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,-	Autism|Diabetes, type 2, association with,-	ICGC,
chr8	55617561	55617561	G	T	intergenic	RP1,XKR4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5683784	-	LIRI-JP|1|258|0.00388	-	-	vision/eye phenotype,-	Retinitis pigmentosa, early-onset|Retinitis pigmentosa, autosomal recessive.|Retinitis pigmentosa, autosomal recessive|Retinitis pigmentosa, autosomal dominant|Retinitis pigmentosa|Potential protein deficiency|Leber congenital amaurosis|Hypertriglyceridaemia, association with|,Glaucoma, primary congenital	COSMIC,ICGC,
chr12	124934747	124934747	T	A	intronic	NCOR2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1560869	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging	Schizophrenia  	COSMIC,ICGC,
chr12	74289934	74289934	G	A	intergenic	LOC101928137,LOC100507377	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	37338002	37338002	G	T	exonic	NUP155	nonsynonymous	SNV	0.018	0.213	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	mortality/aging	Atrial fibrillation	ICGC,
chr7	136810873	136810873	C	T	ncRNA_intronic	LOC349160	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24209007	-	BRCA-FR|1|72|0.01389	-	-	-	-	COSMIC,ICGC,
chr4	149345550	149345550	A	T	intronic	NR3C2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	mortality/aging	Myocardial infarction, increased risk, association with|Neonatal stress, association with|Pseudohypoaldosteronism 1|Pseudohypoaldosteronism type 1, autosomal dominant|Reduced expression|Reduced expression, association with|Increased BMI and LDL-cholesterol, association with|Increased blood pressure, association with|Increased amygdala reactivity, with prior childhood emotional neglect, association with.|Autism |Blood pressure variation in response to potassium, association with|Cortisol awakening response in women, association with|Fibromyalgia|Higher ADHD symptom dimensions, association with|Hypertension, early onset exacerbated in pregnancy	ICGC,
chr7	119194662	119194662	G	A	intergenic	ANKRD7,KCND2	unknown	SNV	-	-	-	6.469e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Epilepsy, temporal lobe	ICGC,
chr5	107288533	107288533	A	G	intronic	FBXL17	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr19	37641108	37641108	G	A	UTR3	ZNF585A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr14	94054834	94054834	C	T	intronic	UNC79	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging	-	ICGC,
chr3	70575998	70575998	G	A	intergenic	LINC01212,FOXP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Speech delay, contractures, hypertonia & blepharophimosis|Mental retardation, speech and language deficits|Intellectual disability & autism|Intellectual disability|Delayed speech/motor development & Chiari I malformation|Congenital heart defects|Childhood apraxia of speech|Autism, speech delay and deficit of motor coordination|Autism spectrum disorder  	ICGC,
chr12	57252205	57252205	A	C	intergenic	HSD17B6,SDR9C7	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8540523	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	COSMIC,ICGC,
chr5	125396794	125396794	-	TTTTTTTTTTT	intergenic	LOC101927460,LOC102546228	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr3	67325420	67325420	T	G	intergenic	MIR4272,SUCLG2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	ICGC,
chr6	102976777	102976777	C	T	intergenic	GRIK2,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27799839	-	UTCA-FR|1|20|0.05000	-	-	behavior/neurological phenotype,-	Mental retardation, non-syndromic, autosomal recessive,-	COSMIC,ICGC,
chr1	118471212	118471212	C	T	intronic	GDAP2	unknown	SNV	-	-	-	0.3400	rs3754127	-	0.284345	-	0.413	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr18	13918639	13918639	G	A	intergenic	MC2R,ZNF519	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	mortality/aging,-	Glucocorticoid deficiency without pigmentation|Glucocorticoid deficiency |Cushing syndrome|Androgen secretion, association with|Adrenal hypoplasia, salt-losing|ACTH responsiveness, association with|ACTH hypersensitivity syndrome,-	ICGC,
chr13	90940001	90940001	G	A	intergenic	MIR622,LINC01049	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	10535201	10535201	C	T	intergenic	LOC101929412,ANKRD33B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr8	143781748	143781748	C	A	UTR5	LY6K	unknown	SNV	-	-	-	-	rs782186109	0	-	-	-	COSN1361284	-	-	-	-	-	-	COSMIC,
chr4	132123748	132123748	G	A	intergenic	LOC101927282,PCDH10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,Schizophrenia|Potential protein deficiency	ICGC,
chr8	5756072	5756072	C	T	intergenic	CSMD1,LOC100287015	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Schizophrenia, association with |Hyperinsulinism|Autism|Attention deficit hyperactivity disorder ,-	ICGC,
chrX	148181426	148181426	C	A	intergenic	AFF2,IDS	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	integument phenotype,integument phenotype	Premature ovarian failure|Mental retardation  |Intellectual disability, X-linked|Intellectual disability, hypotonia & dysmorphic features|Intellectual disability, ataxia & bilateral inguinal hernia|Intellectual disability & autism|Fragile site, FRAXE|Developmental delay  |Autism spectrum disorder|Autism|Altered expression,Tetralogy of Fallot|Mucopolysaccharidosis II, with seizures|Mucopolysaccharidosis II with mental retardation|Mucopolysaccharidosis II|Hunter syndrome	ICGC,
chr15	40493619	40493619	A	G	intronic	BUB1B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16303438	-	LIRI-JP|1|258|0.00388	-	-	integument phenotype	Premature chromatid separation syndrome|Mosaic variegated aneuploidy|Leukemia, risk, association with|Gastrointestinal cancer, susceptibility to|Colorectal cancer 	COSMIC,ICGC,
chr9	77207680	77207680	C	G	intronic	RORB	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6393976	-	LIRI-JP|1|258|0.00388	-	-	vision/eye phenotype	-	COSMIC,ICGC,
chr12	79193594	79193594	G	A	intergenic	NAV3,SYT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,mortality/aging	-,-	ICGC,
chr8	146152842	146152843	CA	-	intergenic	ZNF250,ZNF16	unknown	deletion	-	-	-	0.2295	rs145836496	-	0.232628	-	0.007	-	-	ESAD-UK|1|301|0.00332	-	-	no phenotypic analysis,-	-,-	ICGC,
chr1	183885295	183885295	C	G	intronic	RGL1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7188253	-	PACA-AU|1|391|0.00256	-	-	-	-	COSMIC,ICGC,
chr2	154621168	154621168	A	G	intergenic	RPRM,GALNT13	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,normal phenotype	-,-	ICGC,
chr3	174815052	174815052	CC	TT	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr19	17768891	17768891	G	T	exonic	UNC13A	nonsynonymous	SNV	0.131	0.0	-	-	-	-	-	-	-	COSM1231752	COAD|1|367|0.00272,COADREAD|1|489|0.00204	READ-US|1|94|0.01064	-	-	mortality/aging	Potential protein deficiency|Schizophrenia	COSMIC,COSMIC,TCGA,ICGC,
chr8	40593393	40593393	G	A	intronic	ZMAT4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr1	199993173	199993173	C	T	intergenic	LINC01222,NR5A2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,-	ICGC,
chr1	167114449	167114451	ATA	-	intergenic	DUSP27,LINC01363	unknown	deletion	-	-	-	3.228e-05	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	ICGC,
chr1	227449227	227449227	A	G	intronic	CDC42BPA	unknown	SNV	-	-	-	0.2904	rs11806482	-	0.301717	-	0.304	COSN16213426	-	ESAD-UK|1|301|0.00332	-	-	-	-	COSMIC,ICGC,
chr13	97188216	97188216	T	G	intronic	HS6ST3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr5	142019063	142019063	A	G	intronic	FGF1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype	Alzheimer's disease, increased risk, association with |Hypertension, association with 	ICGC,
chr12	47827361	47827361	G	A	intergenic	PCED1B,RPAP3	unknown	SNV	-	-	-	0.7315	rs2188939	-	0.743211	-	0.616	-	-	LAML-KR|1|205|0.00488	-	-	-,-	-,-	ICGC,
chr9	128186950	128186950	G	A	intergenic	GAPVD1,MAPKAP1	unknown	SNV	-	-	-	3.309e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Breast cancer, non-BRCA1/BRCA2 related	ICGC,
chr8	8860276	8860276	G	T	upstream	ERI1	unknown	SNV	-	-	-	0.3756	rs2288673	-	0.430511	-	0.362	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	-	ICGC,
chr8	105854783	105854783	T	C	intergenic	LRP12,ZFPM2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	UTCA-FR|1|20|0.05000	-	-	-,integument phenotype	-,Atrial septal defect & gonadal dysgenesis|Diaphragmatic hernia, congenital|Double outlet right ventricle |Gonadal dysgenesis |Reduced activity|Tetralogy of Fallot 	ICGC,
chr16	64935272	64935272	C	A	intergenic	NONE,CDH11	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15752646	-	LIRI-JP|1|258|0.00388	-	-	-,integument phenotype	-,-	COSMIC,ICGC,
chr19	33464851	33464851	T	C	intronic	C19orf40	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr4	105039798	105039798	G	A	intergenic	TACR3,CXXC4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	behavior/neurological phenotype,-	Kallmann syndrome|Hypogonadotropic hypogonadism,-	ICGC,
chr5	57138604	57138604	A	T	intergenic	LOC101928505,LOC101928539	unknown	SNV	-	-	-	0.0001	rs145417740	-	-	-	-	-	-	RECA-EU|1|422|0.00237	-	-	-,-	-,-	ICGC,
chr22	46886496	46886496	G	A	intronic	CELSR1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Craniorachischisis|Neural tube defects|Spina bifida  	ICGC,
chr2	60113322	60113322	T	C	intergenic	LOC101927285,MIR4432	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1849231	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr8	137410098	137410098	G	A	intergenic	KHDRBS3,FAM135B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	ICGC,
chr3	170475344	170475344	G	T	intergenic	SLC7A14,RPL22L1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	Retinitis pigmentosa,-	ICGC,
chr5	106100654	106100654	A	T	intergenic	RAB9BP1,LOC102467213	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	ICGC,
chr7	119285595	119285595	T	C	intergenic	ANKRD7,KCND2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26076891	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	-,Epilepsy, temporal lobe	COSMIC,ICGC,
chrX	142296918	142296918	A	C	intergenic	SPANXN4,SPANXN3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN4788262	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	COSMIC,ICGC,
chr11	56026248	56026248	C	T	intergenic	OR5T3,OR5T1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	186952633	186952633	T	G	intergenic	LOC101927217,ZC3H15	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	CMDI-UK|1|136|0.00735	-	-	-,-	-,-	ICGC,
chr18	5074173	5074173	G	A	intergenic	DLGAP1,C18orf42	unknown	SNV	-	-	-	0.0004	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Schizophrenia  ,-	ICGC,
chr4	189785084	189785084	C	T	intergenic	LINC01060,LINC01262	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr19	39688846	39688846	T	C	exonic	NCCRP1	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM6722821	-	-	-	-	-	-	COSMIC,
chr8	55355229	55355229	G	C	intergenic	MRPL15,SOX17	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17041949	-	-	-	-	-,mortality/aging	-,Congenital anomalies of the kidney and urinary tract|Stroke, association with	COSMIC,
chr4	7024809	7024809	C	G	intronic	TBC1D14	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9051401	-	OV-AU|1|93|0.01075	-	-	mortality/aging	-	COSMIC,ICGC,
chr5	131126024	131126024	A	T	intronic	FNIP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	hematopoietic system phenotype	Multiple discoid fibromas	ICGC,
chr19	37567290	37567293	ATTA	-	intergenic	ZNF568,ZNF420	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,Autism	ICGC,
chr5	95258058	95258058	G	A	intronic	ELL2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	-	ICGC,
chr5	11769458	11769458	G	A	intronic	CTNND2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	Schizophrenia  |Lennox-Gastaut syndrome |Autism spectrum disorder|Anorectal malformation|Altered localisation	ICGC,
chr7	62568436	62568436	G	A	intergenic	NONE,ZNF733P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	105340765	105340765	T	C	intergenic	TACR3,CXXC4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	behavior/neurological phenotype,-	Kallmann syndrome|Hypogonadotropic hypogonadism,-	ICGC,
chr15	24805561	24805561	T	A	ncRNA_intronic	PWRN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-	-	ICGC,
chr21	27605072	27605072	C	T	intergenic	APP,CYYR1	unknown	SNV	-	-	-	6.463e-05	rs765783063	-	-	-	-	COSN19023217	-	CLLE-ES|1|510|0.00196	-	-	integument phenotype,-	Dementia and cerebral microvasculopathy.|Dementia, early-onset |Myoclonic epilepsy   |Potential protein deficiency|Reduced expression|Schizophrenia|Cerebral haemorrhage|Cerebral amyloid angiopathy|Alzheimer disease|Alzheimer disease with cerebral amyloid angiopathy|Alzheimer disease, association with|Alzheimer disease, early onset|Alzheimer disease, protection against |Amyloidosis in cerebral hemorrhage patients,-	COSMIC,ICGC,
chr7	31084167	31084167	C	T	intergenic	GHRHR,ADCYAP1R1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,mortality/aging	Reduced promoter activity|Pituitary dwarfism|Increased tumour sensitivity to GHRH|Growth hormone deficiency, isolated|Growth hormone deficiency 1B|Growth hormone deficiency (type 1B)|Growth hormone deficiency|Breast cancer, decreased risk, association with,Post-traumatic stress disorder, in females, association with	ICGC,
chr5	34896883	34896883	G	A	exonic	TTC23L	synonymous	SNV	-	-	9.012e-06	-	rs761822866	2.875e-05	-	-	-	COSM1067439	UCEC|1|248|0.00403	UCEC-US|1|250|0.00400	-	-	-	-	COSMIC,TCGA,ICGC,
chr10	92577934	92577934	G	A	intronic	HTR7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype	Receptor variant	ICGC,
chr1	82782284	82782284	A	C	intergenic	LPHN2,LINC01361	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	Schizophrenia,-	ICGC,
chr1	244372054	244372054	G	A	intergenic	ZBTB18,C1orf100	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	mortality/aging,-	-,Potential protein deficiency	ICGC,
chr7	125506213	125506213	C	T	intergenic	LOC101928283,GRM8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-,behavior/neurological phenotype	-,Attention deficit hyperactivity disorder|Autism spectrum disorder  	ICGC,
chr3	190104191	190104191	A	G	intergenic	CLDN1,CLDN16	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	integument phenotype,homeostasis/metabolism phenotype	Ichthyosis, alopecia, and sclerosing cholangitis,Potential protein deficiency|Nephrocalcinosis and severe bone disease|Hypomagnesemia with hypercalciuria and nephrocalcinosis|Hypomagnesemia hypercalciuria syndrome|Hypercalciuria	ICGC,
chr10	9629064	9629064	C	A	intergenic	LOC101928272,LOC101928298	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15428020	-	OV-AU|1|93|0.01075	-	-	-,-	-,-	COSMIC,COSMIC,ICGC,
chr8	105736587	105736587	C	T	intergenic	LRP12,ZFPM2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Atrial septal defect & gonadal dysgenesis|Diaphragmatic hernia, congenital|Double outlet right ventricle |Gonadal dysgenesis |Reduced activity|Tetralogy of Fallot 	ICGC,
chrX	94828432	94828432	G	A	intergenic	FAM133A,LOC643486	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	17633037	17633037	A	C	intergenic	FAM49A,RAD51AP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	227102911	227102911	A	G	intergenic	LOC646736,MIR5702	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chrX	126226659	126226659	T	A	intergenic	PRR32,ACTRT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	ICGC,
chr4	134653369	134653369	G	A	intergenic	PCDH10,PABPC4L	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Schizophrenia|Potential protein deficiency,Autism spectrum disorder  	ICGC,
chr21	26200758	26200758	G	A	intergenic	LOC101927869,LOC339622	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr9	3150557	3150557	C	T	intergenic	KIAA0020,LINC01231	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr12	33766380	33766380	G	A	intergenic	SYT10,ALG10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,-	-,-	ICGC,
chr1	237295387	237295387	A	T	intronic	RYR2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Long QT syndrome|Sudden cardiac death|Sudden cardiac death.|Sudden infant death syndrome|Sudden unexplained death  |Ventricular arrhythmia, in chronic heart failure, association with.|Ventricular tachycardia, polymorphic|Left ventricular noncompaction  |Left ventricular non-compaction.|Catecholaminergic polymorphic ventricular tachycardia.|Catecholaminergic polymorphic ventricular tachycardia|Cardiac arrhythmia|Arrhythmogenic right ventricular dysplasia/cardiomyopathy|Arrhythmogenic right ventricular dysplasia type 2|Arrhythmogenic right ventricular cardiomyopathy, association with|Arrhythmogenic right ventricular cardiomyopathy|Altered channel function	ICGC,
chr1	116110554	116110554	C	T	intergenic	NGF,VANGL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,mortality/aging	Sensory and autonomic neuropathy  |Phenotype study|Loss of pain perception|Anxiety-related traits, gender-dependent, association with|Alzheimer disease, late-onset, and mild cognitive impairment, association with.,Neural tube defects	ICGC,
chr2	200093630	200093630	A	G	intergenic	LOC101927619,SATB2	unknown	SNV	-	-	-	-	rs758357034	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,Toriello-Carey syndrome|Pierre Robin sequence  |Intellectual disability, nonsyndromic|Dentofacial abnormalities|Cleft palate, osteoporosis and cognitive defects|Cleft palate|Autism spectrum disorder	ICGC,
chr8	6773897	6773897	G	A	intergenic	DEFB1,DEFA6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Low levels of Candida carriage, association with |Mother-to-child transmission of HIV-1, association with|Periodontitis, increased risk, association with|Reduced transcriptional activity|Systemic lupus erythematosus, association with.|Systemic lupus erythematosus, protection against, association with.|Lepromatous leprosy, association with|HIV-1 infection, association with |Cystic fibrosis, lung phenotype modifier|Atopic dermatitis severity, association with|Atopic dermatitis, association with|Atopic dermatitis, association with.|Atopic dermatitis, protection against, association with.|Chronic obstructive pulmonary disease, association|chronic periodontitis, association with,-	ICGC,
chr3	2154855	2154855	G	A	ncRNA_intronic	CNTN4-AS2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr20	62846475	62846475	C	T	intronic	MYT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	mortality/aging	Mental retardation	ICGC,
chr4	65943198	65943198	A	C	intergenic	LOC401134,EPHA5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,nervous system phenotype	-,Mental retardation|Dravet syndrome  |Attention deficit hyperactivity disorder & learning disabilities|Alzheimer disease  	ICGC,
chr4	115190453	115190453	T	C	intergenic	ARSJ,UGT8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,mortality/aging	-,Musical ability, association with	ICGC,
chr20	58187187	58187187	G	-	intronic	PHACTR3	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-	-	ICGC,
chr2	98967483	98967483	C	T	intronic	CNGA3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	taste/olfaction phenotype	Retinitis pigmentosa|Progressive cone dystrophy |Oligocone trichromacy|Leber congenital amaurosis|Colour-blindness, total|Achromatopsia.|Achromatopsia, atypical, with severe rod involvement.|Achromatopsia	ICGC,
chr10	6654324	6654324	-	A	intergenic	PRKCQ-AS1,LOC101928150	unknown	insertion	-	-	-	0.1832	rs35879082	-	0.189896	-	0.159	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr8	8607958	8607958	C	T	intergenic	CLDN23,MFHAS1	unknown	SNV	-	-	-	3.254e-05	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr1	244951438	244951438	G	T	intergenic	DESI2,COX20	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	normal phenotype,-	Anorectal malformation,Dystonia-ataxia syndrome with reduced mitochondrial complex IV activity|Ataxia and muscle hypotonia	ICGC,
chr6	117916664	117916664	C	T	intronic	GOPC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	reproductive system phenotype	-	ICGC,
chr10	86986238	86986238	C	A	intergenic	LOC101929624,LOC101929646	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	ICGC,
chr5	111050439	111050439	A	T	ncRNA_intronic	STARD4-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7856272	-	-	-	-	-	-	COSMIC,
chr16	31990252	31990252	C	T	intergenic	ZNF267,HERC2P4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8498026	-	OV-AU|1|93|0.01075	-	-	-,-	-,-	COSMIC,COSMIC,ICGC,
chr3	100290965	100290965	G	C	intronic	TMEM45A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|2|186|0.01075	-	-	-	-	ICGC,
chr7	83255563	83255563	T	A	intronic	SEMA3E	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	vision/eye phenotype	CHARGE syndrome|Tetralogy of Fallot	ICGC,
chr16	3166477	3166477	G	A	exonic	ZNF205	stopgain	SNV	-	-	-	-	-	-	-	-	-	-	STAD|1|395|0.00253,STES|1|395|0.00253	-	-	-	hematopoietic system phenotype	-	TCGA,
chr12	131156463	131156463	C	T	intergenic	RIMBP2,STX2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,hematopoietic system phenotype	-,-	ICGC,
chr16	55190824	55190824	G	A	intergenic	IRX5,IRX6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,vision/eye phenotype	Defective craniofacial morphogenesis & heart, blood, bone & germ cell ontogeny,-	ICGC,
chr10	16456723	16456723	T	C	intergenic	FAM188A,PTER	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8182116	-	PACA-CA|1|268|0.00373	-	-	-,-	Non-small-cell lung cancer, increased risk, association with,-	COSMIC,ICGC,
chr16	48248819	48248819	G	T	exonic	ABCC11	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM558190	LUAD|1|543|0.00184,UCEC|1|248|0.00403	UCEC-US|1|250|0.00400	-	-	-	Axillary odour formation, association with|Axillary osmidrosis, association with|Earwax type, association with	COSMIC,TCGA,ICGC,
chr14	63461817	63461817	G	A	intronic	KCNH5	unknown	SNV	-	-	-	3.233e-05	-	-	-	-	-	COSN17023936	-	PRAD-CA|1|308|0.00325	-	-	behavior/neurological phenotype	Epileptic encephalopathy 	COSMIC,ICGC,
chr8	108245951	108245951	T	A	intergenic	ABRA,ANGPT1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8053795	-	PACA-AU|1|391|0.00256	-	-	cardiovascular system phenotype,mortality/aging	-,Stroke, reduced risk, association with	COSMIC,ICGC,
chr6	70026211	70026211	G	A	intronic	BAI3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr4	171432757	171432757	G	A	intergenic	AADAT,LOC100506122	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538,MELA-AU|3|183|0.01639	-	-	vision/eye phenotype,-	-,-	ICGC,
chr11	113522509	113522509	C	T	intergenic	DRD2,TMPRSS5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Prefronto-striatal phenotypes in schizophrenia, association|Prefronto-striatal phenotypes in schizophrenia, association with|Reduced emotional stability, association with|Reduced Freud-1 binding activity|Schizophrenia, association with|Schizophrenia, association with.|Schizophrenia, lower risk, association with|Schizophrenia, modifier, association with|Wilson disease, association with|Neuroleptic malignant syndrome |Myoclonus dystonia||Alcohol dependence, association with|Alcoholism, association with |Altered receptor affinity in vivo, association with|Cocaine abuse, association with|Fear learning, association |Impaired inhibition of intracellular cAMP|Increased expression, association with|Methamphetamine psychosis, rapid onset, association with,Deafness	ICGC,
chr12	92741322	92741322	T	-	intergenic	BTG1,CLLU1OS	unknown	deletion	-	-	-	0.3681	rs111231830	-	0.229433	-	0.159	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	Keratosis pilaris,-	ICGC,
chr6	58407236	58407236	G	A	intergenic	GUSBP4,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr6	102117462	102117462	G	T	intronic	GRIK2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	behavior/neurological phenotype	Mental retardation, non-syndromic, autosomal recessive	ICGC,
chr5	156327916	156327916	G	A	intergenic	PPP1R2P3,TIMD4	unknown	SNV	-	-	-	6.46e-05	rs575883747	-	0.000199681	-	-	COSN7903498	-	PACA-AU|1|391|0.00256	-	-	-,hematopoietic system phenotype	-,-	COSMIC,ICGC,
chr5	13014882	13014882	A	T	intergenic	LINC01194,DNAH5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9405313	-	OV-AU|1|93|0.01075	-	-	-,mortality/aging	-,Asthenozoospermia |Autism |Chronic rhinosinusitis and primary ciliary dyskinesia|Potential protein deficiency|Primary ciliary dyskinesia	COSMIC,ICGC,
chr18	53231904	53231904	G	T	intronic	TCF4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1748429	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging	Rett syndrome, variant / Pitt-Hopkins syndrome|Pitt-Hopkins syndrome|Mental retardation and microcephaly|Mental retardation & facial anomalies|Intellectual disability, nonsyndromic|Intellectual disability and dysmorphisms|Intellectual disability|Fuchs endothelial corneal dystrophy, susceptibility to |Angelman syndrome	COSMIC,COSMIC,ICGC,
chr9	104720745	104720745	T	C	intergenic	GRIN3A,LINC00587	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26413027	-	PRAD-UK|1|140|0.00714	-	-	vision/eye phenotype,-	Schizophrenia, increased risk |Schizophrenia |Potential protein deficiency,-	COSMIC,ICGC,
chr8	145216342	145216342	G	T	intronic	MROH1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8074224	-	PACA-AU|1|391|0.00256	-	-	-	-	COSMIC,ICGC,
chr17	44590640	44590640	G	A	exonic	LRRC37A2	nonsynonymous	SNV	0.119	0.997	-	-	-	-	-	-	-	COSM6416676	-	THCA-CN|1|50|0.02000	-	-	-	-	COSMIC,ICGC,
chr17	26041569	26041569	C	T	intergenic	LGALS9,NOS2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype,integument phenotype	-,Non-Hodgkin lymphoma, increased risk, association with|Pancreatitis, acute, association with|Pre-eclampsia, association with|Protection against silicosis in miners|Schizophrenia|Septic shock, increased risk|Severe sepsis, protection against|Ulcerative colitis, increased risk, association with  |Urinary bladder cancer risk, association with|Vitiligo, increased risk, association with|Multiple sclerosis, association with |Migraine susceptibilty, association with|Malaria, protection against, association with|Aphthous stomatitis, recurrent, association with|Atopy, association with|Atrophic gastritis, association with.|Complications in diabetes, association with|Diabetes, type 2, association with|Diabetic retinopathy, reduced risk, association|Gastric cancer, association with.|Hyperinsulinism|Hypertension, association with|Malaria, association with 	ICGC,
chr5	99834853	99834853	G	A	intergenic	LOC100133050,FAM174A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr12	123806858	123806858	C	T	intronic	SBNO1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25864527	-	EOPC-DE|1|202|0.00495	-	-	-	Increased head circumference, association with	COSMIC,ICGC,
chr1	208851238	208851238	G	A	intergenic	PLXNA2,MIR205HG	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	vision/eye phenotype,-	Tetralogy of Fallot,-	ICGC,
chr12	21112433	21112433	G	A	intergenic	SLCO1B3,SLCO1B7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	mortality/aging,-	Rotor syndrome|Decreased protein expression|Altered substrate specificity,Schizophrenia	ICGC,
chr9	45368633	45368633	C	T	intergenic	LOC102723709,FAM27A	unknown	SNV	-	-	-	9.852e-05	-	-	-	-	-	-	-	LAML-KR|1|205|0.00488	-	-	-,-	-,-	ICGC,
chr2	67776706	67776706	-	GATTTTATTT	intergenic	ETAA1,LOC101927701	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr7	108934921	108934921	T	A	intergenic	C7orf66,EIF3IP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr8	100224888	100224888	-	TTCTCTTCCTACC	intronic	VPS13B	unknown	insertion	-	-	-	0.8228	rs11272035	-	0.780551	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	Neutropaenia with retinopathy|Intellectual disability  |Cohen syndrome, cutis verticis gyrata & sensorineural deafness|Cohen syndrome|Autism spectrum disorder|Autism	ICGC,
chr5	117805935	117805935	G	A	ncRNA_intronic	LOC101927280	unknown	SNV	-	-	-	-	rs561693654	-	0.000199681	-	-	-	-	OV-AU|1|93|0.01075	-	-	-	-	ICGC,
chr6	29477510	29477510	C	T	intergenic	MAS1L,LINC01015	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr19	6035897	6035900	TGTG	-	intronic	RFX2	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|2|67|0.02985	-	-	-	Autism	ICGC,
chr15	34678806	34678806	G	A	intronic	GOLGA8A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr14	101622559	101622559	C	T	intergenic	MEG9,DIO3OS	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	ICGC,
chr7	55376547	55376547	A	T	intergenic	ELDR,LANCL2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr2	57836972	57836972	C	T	intergenic	CCDC85A,VRK2	unknown	SNV	-	-	-	6.457e-05	rs376054357	-	-	-	-	-	-	EOPC-DE|1|202|0.00495	-	-	-,-	-,-	ICGC,
chr3	71516647	71516647	C	T	intronic	FOXP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging	Speech delay, contractures, hypertonia & blepharophimosis|Mental retardation, speech and language deficits|Intellectual disability & autism|Intellectual disability|Delayed speech/motor development & Chiari I malformation|Congenital heart defects|Childhood apraxia of speech|Autism, speech delay and deficit of motor coordination|Autism spectrum disorder  	ICGC,
chr20	47021730	47021730	C	T	intergenic	LINC00494,PREX1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,hematopoietic system phenotype	-,-	ICGC,
chr19	33419658	33419658	C	T	intronic	CEP89	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26811981	-	PRAD-FR|1|25|0.04000	-	-	-	Intellectual disability  |Complex IV deficiency, isolated	COSMIC,ICGC,
chr8	131728675	131728675	C	T	intergenic	ASAP1,ADCY8	unknown	SNV	-	-	-	0.0029	rs150829115	-	0.00259585	-	0.007	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	Schizophrenia,Myocardial infarction  	ICGC,
chr11	5842082	5842082	G	A	exonic	OR52N2	nonsynonymous	SNV	0.287	0.972	-	-	-	-	-	-	-	COSM3450031	SKCM|1|368|0.00272	SKCM-US|1|335|0.00299	-	-	-	-	COSMIC,TCGA,ICGC,
chr18	10164985	10164985	A	G	intergenic	VAPA,LINC01254	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23189394	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	COSMIC,ICGC,
chr13	55078568	55078568	G	T	intergenic	MIR1297,MIR5007	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24653797	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	COSMIC,ICGC,
chr7	27420355	27420355	G	A	intergenic	EVX1-AS,HIBADH	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr8	3306301	3306301	G	A	intronic	CSMD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-	Schizophrenia, association with |Hyperinsulinism|Autism|Attention deficit hyperactivity disorder 	ICGC,
chr9	113456182	113456182	C	T	intronic	MUSK	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Limb-girdle congenital myasthenic syndrome, salbutamol-responsive|Congenital myasthenic syndrome	ICGC,
chr2	34126002	34126002	G	A	intergenic	MYADML,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr14	65643062	65643062	C	T	intergenic	MAX,LOC100128233	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19242584	-	CLLE-ES|1|510|0.00196	-	-	mortality/aging,-	Phaeochromocytoma and paraganglioma|Phaeochromocytoma,-	COSMIC,ICGC,
chr2	26698536	26698536	C	T	intronic	OTOF	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	behavior/neurological phenotype	Sensorineural hearing loss.|Sensorineural hearing loss, nonsyndromic|Hearing loss.|Hearing loss, nonsyndromic|Hearing loss, non-syndromic|Deafness, non-syndromic, autosomal recessive|Deafness, non-syndromic|Deafness, autosomal recessive 9|Auditory neuropathy|Auditory neuropathy spectrum disorder |Auditory neuropathy spectrum disorder.|Auditory neuropathy, temperature-sensitive|Auditory neuropathy/auditory dys-synchrony, with progressive sensorineural hearing loss.|Deafness  	ICGC,
chr1	102958988	102958988	G	A	intergenic	OLFM3,COL11A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,mortality/aging	-,Stickler syndrome, type 2|Stickler syndrome|Robin sequence |Osteoarthritis, early-onset|Marshall syndrome|Marshall / Stickler syndrome|Lumbar disc herniation, association with|Fibrochondrogenesis|Deafness  	ICGC,
chr8	81121520	81121520	A	G	intergenic	TPD52,MIR5708	unknown	SNV	-	-	-	0.0854	rs55712684	-	0.159345	-	0.196	COSN18867304	-	-	-	-	-,-	-,-	COSMIC,
chr4	166480475	166480475	A	G	intergenic	CPE,LINC01179	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7749682	-	PACA-AU|1|391|0.00256	-	-	integument phenotype,-	Diabetes mellitus 2, early onset, association with,-	COSMIC,ICGC,
chr18	45705814	45705814	G	A	intergenic	ZBTB7C,CTIF	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	cellular phenotype,-	-,-	ICGC,
chr7	48259524	48259531	CACACACA	-	intronic	ABCA13	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	Schizophrenia / depression|Schizophrenia / bipolar disorder / depression |Schizophrenia  |Bipolar disorder  |Autism|Anorectal malformation	ICGC,
chr3	182917427	182917427	A	T	intronic	MCF2L2	unknown	SNV	-	-	-	0.0031	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Diabetic nephropathy, association with  	ICGC,
chr6	27028854	27028854	C	A	intergenic	LINC00240,HIST1H2BJ	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7868991	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	COSMIC,ICGC,
chr12	130762106	130762106	G	A	intergenic	FZD10,PIWIL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	normal phenotype,reproductive system phenotype	-,-	ICGC,
chr4	170913267	170913267	G	A	exonic	MFAP3L	synonymous	SNV	-	-	8.127e-06	-	-	-	-	-	-	COSM6895895	-	-	-	-	-	-	COSMIC,
chr5	126780994	126780994	G	A	intronic	MEGF10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	SARC|1|247|0.00405	MELA-AU|1|183|0.00546	-	-	vision/eye phenotype	EMARDD|Myopathy, with minicores	TCGA,ICGC,
chr8	50474162	50474162	G	A	intergenic	C8orf22,SNTG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	-,-	-,Autism|Intellectual disability, cleft palate, hearing loss and dysmorphisms	ICGC,
chr4	81393949	81393949	C	T	intronic	C4orf22	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr1	64738113	64738113	-	AAA	intergenic	UBE2U,CACHD1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,Autism	ICGC,
chr3	197186266	197186266	G	T	intergenic	DLG1-AS1,BDH1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9543742	-	OV-AU|1|93|0.01075	-	-	-,-	-,-	COSMIC,ICGC,
chr13	103376822	103376822	G	A	intergenic	METTL21C,CCDC168	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	59094079	59094079	-	TGTG	intronic	PDE4D	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	mortality/aging	Psychomotor retardation, coarse facies & ocular anomalies|Intellectual disability syndrome with low body mass index & facial features|Acrodysostosis	ICGC,
chr2	95649959	95649959	T	C	intergenic	LOC442028,MAL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,vision/eye phenotype	-,-	ICGC,
chr17	61615609	61615609	G	A	exonic	KCNH6	nonsynonymous	SNV	0.001	0.999	-	-	-	-	-	-	-	COSM982613	UCEC|1|248|0.00403	UCEC-US|1|250|0.00400	-	-	-	Hyperinsulism|Schizophrenia	COSMIC,TCGA,ICGC,
chr3	103411245	103411245	C	A	intergenic	ZPLD1,MIR548A3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8199354	-	PACA-CA|1|268|0.00373	-	-	-,-	Cerebral cavernous malformations,-	COSMIC,ICGC,
chr16	51809275	51809275	G	A	intergenic	LOC101927364,C16orf97	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr13	37329295	37329295	C	T	intergenic	SERTM1,RFXAP	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,Immunodeficiency|Bare lymphocyte syndrome, complementation group D|Bare lymphocyte syndrome	ICGC,
chr11	120969571	120969571	T	A	intergenic	TBCEL,TECTA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,behavior/neurological phenotype	-,Hearing impairment |Hearing loss|Hearing loss, non-syndromic|Hearing loss, non-syndromic, autosomal dominant|Hearing loss, non-syndromic, autosomal recessive|Jacobsen syndrome |Glaucoma, primary congenital|Deafness, non-syndromic |Deafness, autosomal recessive 21|Deafness, autosomal dominant 8|Deafness, autosomal dominant 12|Deafness, autosomal dominant|Deafness|Autism	ICGC,
chr9	90801112	90801112	C	T	intergenic	SPATA31C2,SPIN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr11	62381171	62381171	G	T	exonic	ROM1	nonsynonymous	SNV	0.071	0.896	4.074e-06	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	vision/eye phenotype	Potential protein deficiency|PRPH2-associated macular dystrophy modifier|Retinitis pigmentosa |Retinitis pigmentosa, autosomal dominant ?	ICGC,
chr16	9725745	9725745	G	A	intergenic	MIR7641-2,GRIN2A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Intellectual disability  |Landau-Kleffner syndrome|Landau-Kleffner syndrome, atypical rolandic epilepsy, dysphasia, CSWS syndrome|Landau-Kleffner syndrome, verbal dyspraxia|Landau-Kleffner syndrome/benign epilepsy with centrotemporal spikes/atypical benign partial epilepsy|Mental retardation with abnormal EEG|Partial epilepsy, atypical benign|Rolandic epilepsy |Schizophrenia|Schizophrenia, chronic outcome, association with|Seizure disorders of rolandic region & intellectual disability|Increased hippocampal and amygdala volumes, association with|Epileptic encephalopathy, verbal dyspraxia|Epileptic encephalopathy, benign childhood epilepsy|Alcohol dependence, association with|Atypical rolandic epilepsy, absence epilepsy|Atypical rolandic epilepsy, verbal dyspraxia|Benign epilepsy with centrotemporal spikes|Epilepsy with cognitive impairment|Epilepsy-aphasia syndrome|Epilepsy, childhood-onset|Epileptic encephalopathy|Epileptic encephalopathy, abnormal EEG & developmental delay|Epileptic encephalopathy, atypical rolandic epilepsy, dysphasia|Epileptic encephalopathy, atypical rolandic epilepsy, verbal dyspraxia	ICGC,
chr4	40755938	40755938	C	G	intronic	NSUN7	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25204844	-	MALY-DE|1|241|0.00415	-	-	reproductive system phenotype	Autism	COSMIC,ICGC,
chr11	62747289	62747289	T	A	exonic	SLC22A6	nonsynonymous	SNV	0.263	0.059	-	-	-	-	-	-	-	COSM429486	BRCA|1|982|0.00102	BRCA-US|1|955|0.00105	-	-	hematopoietic system phenotype	Decreased function	COSMIC,TCGA,ICGC,
chr12	53083901	53083901	G	A	UTR3	KRT77	unknown	SNV	-	-	-	0.0003	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	-	ICGC,
chr7	132503145	132503145	T	C	intronic	CHCHD3	unknown	SNV	-	-	-	0.3526	rs6975749	-	0.46226	-	0.355	-	-	ESAD-UK|3|301|0.00997	-	-	mortality/aging	-	ICGC,
chr20	53114779	53114779	G	A	intronic	DOK5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr18	23042177	23042177	G	A	intergenic	ZNF521,SS18	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26654412	-	LICA-CN|1|402|0.00249	-	-	skeleton phenotype,mortality/aging	-,-	COSMIC,ICGC,
chr13	29608252	29608252	C	A	exonic	MTUS2	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM696796	LUSC|1|178|0.00562	LUSC-US|1|194|0.00515	-	-	-	-	COSMIC,TCGA,ICGC,
chr6	32911306	32911306	G	A	intergenic	HLA-DMB,HLA-DMA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	Altered transcriptional activity,-	ICGC,
chr11	35801377	35801377	A	C	intronic	TRIM44	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16350649	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr8	140016504	140016504	A	T	intergenic	COL22A1,KCNK9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,respiratory system phenotype	-,Birk Barel mental retardation dysmorphism syndrome	ICGC,
chr4	31239413	31239413	T	G	intergenic	PCDH7,NONE	unknown	SNV	-	-	-	0.0317	rs113424627	-	0.0407348	-	0.036	-	-	LAML-KR|1|205|0.00488	-	-	-,-	-,-	ICGC,
chr12	109118460	109118460	T	C	intronic	CORO1C	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16450629	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr19	43380673	43380673	C	T	intronic	PSG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr3	163294933	163294933	-	A	intergenic	LINC01192,SI	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,-	-,Sucrase isomaltase deficiency	ICGC,
chr15	54206743	54206743	T	C	intergenic	WDR72,UNC13C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,behavior/neurological phenotype	Amelogenesis imperfecta|Hypomaturation amelogenesis imperfecta,Developmental delay  	ICGC,
chr2	126090002	126090002	C	T	intergenic	CNTNAP5,GYPC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Autism,Glycophorin C variant|Gerbich-negative blood group|Elliptocytosis|Duch blood group	ICGC,
chrX	68853540	68853540	C	T	intronic	EDA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	integument phenotype	Tooth agenesis.|Tooth agenesis|Oligodontia   |Hypodontia|Ectodermal dysplasia, X-linked hypohidrotic with bilateral glaucoma|Ectodermal dysplasia, hypohidrotic.|Ectodermal dysplasia, hypohidrotic & inability to sweat|Ectodermal dysplasia, hypohidrotic|Ectodermal dysplasia	ICGC,
chr2	200430536	200430536	C	G	intergenic	SATB2-AS1,LOC101927641	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr1	17265550	17265550	C	A	exonic	CROCC	synonymous	SNV	-	-	-	-	rs765463561	1.195e-05	-	-	-	-	LUAD|1|543|0.00184	-	-	-	vision/eye phenotype	-	TCGA,
chr4	97398669	97398669	G	A	intergenic	PDHA2,STPG2-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24531799	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	COSMIC,ICGC,
chr16	60423195	60423195	-	G	intergenic	LOC729159,CDH8	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN2525029	-	-	-	-	-,integument phenotype	-,Learning disability  |Autism & learning disability 	COSMIC,
chr8	113042768	113042768	C	T	intergenic	NONE,CSMD3	unknown	SNV	-	-	-	0.0001	rs567353714	-	-	-	-	COSN8057250	-	COCA-CN|1|321|0.00312,PACA-AU|1|391|0.00256	-	-	-,-	-,Schizophrenia  |Colorectal cancer 	COSMIC,COSMIC,ICGC,
chr14	20932358	20932358	G	A	intergenic	TMEM55B,PNP	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,mortality/aging	-,Faster cognitive decline in alzheimer disease, association with|Nucleoside phosphorylase deficiency	ICGC,
chr7	154743179	154743179	C	T	intronic	PAXIP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	integument phenotype	-	ICGC,
chr8	78595695	78595695	G	A	intergenic	PEX2,PKIA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,normal phenotype	Zellweger syndrome|Refsum disease, infantile|Peroxisome biogenesis disorder|Cerebellar ataxia, autosomal recessive,-	ICGC,
chr11	84976206	84976206	G	A	intronic	DLG2	unknown	SNV	-	-	-	-	rs61909365	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Schizophrenia and epilepsy|Myopathy  |Intellectual disability, autism and epilepsy|Hypochondriasis|Dysmorphic features & speech delay|Developmental delay and dysmorphic features|Developmental delay  	ICGC,
chrX	34969346	34969346	G	T	intergenic	FAM47B,MAGEB16	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16572875	-	PACA-CA|1|268|0.00373	-	-	-,-	Potential protein deficiency,Potential protein deficiency	COSMIC,ICGC,
chr10	93596059	93596059	C	T	intronic	TNKS2	unknown	SNV	-	-	-	-	rs529789230	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	-	ICGC,
chrX	24427148	24427149	AT	-	intergenic	SUPT20HL1,PDK3	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,Charcot-Marie-Tooth disease, X-linked	ICGC,
chr5	78201734	78201742	AAAAAAAAA	-	intronic	ARSB	unknown	deletion	-	-	-	0.2275	rs759299303	-	-	-	-	COSN18774319	-	-	-	-	hematopoietic system phenotype	Reduced activity|Pseudodeficient enzyme activity|Mucopolysaccharidosis VI	COSMIC,
chr16	30975196	30975196	C	A	intronic	SETD1A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	mortality/aging	-	ICGC,
chr2	204786474	204786474	G	A	intergenic	CTLA4,ICOS	unknown	SNV	-	-	-	0.4164	rs10932027	-	0.432508	-	0.442	-	-	LAML-KR|1|205|0.00488	-	-	integument phenotype,hematopoietic system phenotype	Oral carcinoma, association with.|Nasopharyngeal carcinoma susceptibility, association with|Myasthenia gravis, association with|Myasthenia gravis|Multiple sclerosis, susceptibility to, association with|Multiple sclerosis, association with|Multiple cancers, association with|Kidney transplant rejection, association with|Inflammatory bowel disease, reduced risk, association with|Osteosarcoma, association with|Osteosarcoma, increased risk|Ulcerative colitis, association with  |Systemic lupus erythematosus, association with|Squamous cell carcinoma, association with|Skin cancer, decreased risk|Serum IgE levels, association with|Rheumatoid arthritis susceptibility, association with|Reduced serum soluble CTLA-4 levels, association with|Pretibial myxedema, association with|Pancreatic cancer, association with.|Increased serum IgE levels, association with|Immunodeficiency, common variable, association with.|IDDM, association with|Cancer, association with|B-cell chronic lymphocytic leukaemia, association with|Autoimmune addison's disease, association with|Asthma, association with|Ankylosing spondylitis, association with|Alopecia areata, association with|Aggressive periodontitis, in chronic periodontitis, association with.|Acute rejection after renal transplantation, association with.|Acute graft versus host disease, association with|Cervical cancer, association with|Cervical squamous cell carcinoma, association with |Hepatocellular & cervical cancer, increased risk, association with|Hashimoto thyroiditis in rheumatoid arthritis, association with|Graves disease, susceptibility to, association|Graves disease, association with|Ewing's sarcoma, association with.|Dilated cardiomyopathy, association with|Diabetes, type 1, association with|Chronic periodontitis, association with.|Chronic obstructive pulmonary disease, association with,Allergic sensitisation, association with|Decreased mRNA levels |Immunodeficiency, common variable	ICGC,
chr7	134722519	134722519	G	A	intronic	AGBL3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr9	16707640	16707640	A	G	intronic	BNC2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9704068	-	OV-AU|1|93|0.01075	-	-	mortality/aging	Total anomalous pulmonary venous return |Partial anomalous pulmonary venous return |Hypospadias & partial anomalous pulmonary venous return |Hypospadias 	COSMIC,ICGC,
chr13	40395788	40395788	T	G	intergenic	COG6,LINC00332	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	Congenital disorder of glycosylation 2l|Hypohidrosis & intellectual disability,-	ICGC,
chr1	142816926	142816926	A	G	intergenic	ANKRD20A12P,LOC102723769	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr20	3782736	3782736	G	T	exonic	CDC25B	nonsynonymous	SNV	0.741	0.003	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	mortality/aging	-	ICGC,
chr1	115504685	115504685	G	A	intronic	SYCP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	reproductive system phenotype	-	ICGC,
chr7	129153127	129153127	C	T	downstream	SMKR1	unknown	SNV	-	-	-	0.0014	rs576737678	-	-	-	-	COSN25254684	-	GACA-CN|1|123|0.00813,MALY-DE|1|241|0.00415	-	-	-	-	COSMIC,ICGC,
chr2	159945247	159945247	G	A	intronic	TANC1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21008682	-	BRCA-EU|1|569|0.00176	-	-	behavior/neurological phenotype	Schizophrenia	COSMIC,ICGC,
chr9	78432429	78432429	T	A	intergenic	MIR548H3,PCSK5	unknown	SNV	-	-	-	0	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	-,mortality/aging	-,Low HDL cholesterol	ICGC,
chr4	33529355	33529355	C	A	intergenic	NONE,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr16	50673301	50673301	C	T	UTR3	NKD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	skeleton phenotype	-	ICGC,
chr18	63722200	63722200	T	G	intergenic	CDH7,CDH19	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,Tetralogy of Fallot	ICGC,
chr16	21078607	21078607	G	A	exonic	DNAH3	nonsynonymous	SNV	0.001	1.0	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr2	152420756	152420756	C	T	intronic	NEB	unknown	SNV	-	-	-	0.0002	rs779663323	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging	Schizophrenia  |Nemaline myopathy|Congenital myopathy|Cone-rod myopathy|Arthrogryposis multiplex congenita with axoglial defects	ICGC,
chr19	55294964	55294964	G	A	exonic	KIR2DL1	nonsynonymous	SNV	0.0	0.81	-	-	-	-	-	-	-	COSM3960498	-	-	-	-	-	Altered activity	COSMIC,COSMIC,
chr3	84977000	84977000	G	A	intergenic	LINC00971,CADM2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr14	27341138	27341138	C	A	intergenic	LOC101927062,LOC101927081	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr10	79294627	79294627	T	G	intronic	KCNMA1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Hypertension, association with |Generalized epilepsy and paroxysmal dyskinesia|Autism	ICGC,
chr10	32352496	32352496	T	C	intergenic	KIF5B,EPC1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,mortality/aging	Reduced promoter activity|Reduced stroke volume training response, association with,Schizophrenia	ICGC,
chr1	60927467	60927467	T	A	intergenic	C1orf87,LOC101926964	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	-,-	ICGC,
chr16	7634585	7634585	G	T	intronic	RBFOX1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging	Muscular and feet abnormalities|Mental retardation|Epilepsy, rolandic  |Epilepsy|Developmental delay, facial dysmorphism  |Developmental delay and transposition of the great arteries|Developmental delay and diplegia|Developmental delay and craniosynostosis|Developmental delay  |Cardiac defects|Cardiac abnormalities, micrognathia and scoliosis|Autism spectrum disorder|Autism|Attention deficit hyperactivity disorder 	ICGC,
chr4	137796611	137796611	G	T	intergenic	LINC00613,PCDH18	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27668885	-	NKTL-SG|1|50|0.02000	-	-	-,-	-,Intellectual disability  	COSMIC,ICGC,
chr6	37778020	37778020	A	C	intergenic	MDGA1,ZFAND3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	cellular phenotype,-	-,Diabetes, type 2, association with	ICGC,
chr12	99462258	99462258	C	T	intronic	ANKS1B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Sertoli-cell-only syndrome|Schizophrenia  	ICGC,
chr5	137551062	137551062	T	A	intergenic	CDC23,GFRA3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22536696	-	BRCA-EU|1|569|0.00176	-	-	-,vision/eye phenotype	-,-	COSMIC,ICGC,
chr17	62400832	62400832	G	A	UTR3	PECAM1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype	Graft versus host disease, association with|Coronary artery disease, association with|Chronic kidney disease, association with|Atherosclerosis, reduced progression, association with	ICGC,
chr16	25375618	25375618	C	T	intergenic	ZKSCAN2,HS3ST4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8495810	-	OV-AU|1|93|0.01075	-	-	-,-	-,-	COSMIC,ICGC,
chr2	217365737	217365737	G	C	intronic	RPL37A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr17	42280164	42280164	C	A	intergenic	ATXN7L3,UBTF	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	ICGC,
chr14	41180608	41180608	G	A	intergenic	FBXO33,LOC644919	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr21	38009516	38009516	T	C	intergenic	CLDN14,SIM2	unknown	SNV	-	-	-	0.3664	rs2835412	-	0.429712	-	0.435	-	-	LAML-KR|1|205|0.00488	-	-	behavior/neurological phenotype,mortality/aging	Deafness, autosomal recessive|Hearing loss, non-syndromic, autosomal recessive,-	ICGC,
chr13	33589900	33589900	C	T	upstream	KL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	integument phenotype	Tumoural calcinosis|Priapism in sickle cell anaemia, association with|Metabolic syndrome, association with|Kidney stones, increased risk|Ischemic stroke, early onset, association with|Hypophosphataemic rickets and hyperparathyroidism|Essential hypertension, association with|Early dysfunction in vascular access in haemodialysis, association|Coronary artery disease, association with|Breast / ovarian cancer, increased risk, association with|Age-related phenotypes, association with	ICGC,
chr10	56067311	56067311	T	G	intronic	PCDH15	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16082343	-	PACA-CA|1|268|0.00373	-	-	vision/eye phenotype	Usher syndrome II|Usher syndrome 1f|Usher syndrome 1|Lipid levels in hyperlipidaemia, association with|Hearing loss, non-syndromic|Deafness, non-syndromic, autosomal recessive|Deafness, non-syndromic |Deafness  	COSMIC,ICGC,
chr8	76661806	76661806	C	G	intergenic	HNF4G,LINC01111	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	respiratory system phenotype,-	-,-	ICGC,
chr3	53557852	53557852	C	T	intronic	CACNA1D	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging	Primary aldosteronism|Potential protein deficiency|Deafness and brachycardia|Autism	ICGC,
chr4	153180905	153180905	G	A	intergenic	LOC100996286,FBXW7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Renal cell cancer	ICGC,
chr2	59091059	59091059	C	T	ncRNA_intronic	LINC01122	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25811402	-	EOPC-DE|1|202|0.00495	-	-	-	-	COSMIC,ICGC,
chr1	66182960	66182960	C	T	intergenic	LEPR,PDE4B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	integument phenotype,mortality/aging	Obesity, childhood onset |Obesity, association with.|Obesity, association with|Obesity-related traits, association with|Obesity|Non-small cell lung cancer, association ith|Obesity, early onset|Obesity, early-onset|Obesity, morbid|Obstructive sleep apnea, association with|Oral cancer, association with|Plasma leptin levels + BMI in obesity, association with|Polycystic ovary syndrome, association with|Reduced serum insulin in obese subjects|Weight loss due to dieting in overweight women, association|Neural tube defects, association with|Metabolic syndrome, association with|Menarche, earlier onset, association with|Altered carbohydrate metabolism|Atherosclerosis, early onset, association with|Breast cancer, association with|Breast cancer, association with.|Bronchitis, chronic, association with.|Churg-Strauss syndrome, association with|Entamoeba histolytica, susceptibility, association with|Higher body mass index, association with|Higher leptin levels and preeclampsia, association with|Increased birth weight, association with|Increased proinflammatory state and stress condition in obesity, association with|Insulin, HOMA, and leptin levels in males, association with|Leptin changes after high monounsaturated fat diet, association withrated|Leptin levels and insulin resistance in patients with NAFLD, assocition with|Lower postprandial lipaemic response in males, association with,Psychiatric disorder |Schizophrenia	ICGC,
chr9	94903215	94903215	A	G	upstream	LINC00475	unknown	SNV	-	-	-	0.4404	rs6479408	-	0.534944	-	0.543	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr11	121287213	121287213	C	T	intergenic	SC5D,SORL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,other phenotype	-,Alzheimer disease, association with|Alzheimer disease, early onset	ICGC,
chr12	32162821	32162821	C	T	intergenic	RNU6-78P,BICD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,Shorter telomere length, association with	ICGC,
chr12	53669989	53669989	A	-	intronic	ESPL1	unknown	deletion	-	-	-	3.32e-05	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	mortality/aging	-	ICGC,
chr3	13128833	13128833	A	C	intergenic	IQSEC1,NUP210	unknown	SNV	-	-	-	0.0005	rs186155234	-	0.00259585	-	-	-	-	LAML-KR|1|205|0.00488	-	-	nervous system phenotype,-	-,Schizophrenia	ICGC,
chr1	69971635	69971635	A	G	intergenic	DEPDC1-AS1,LRRC7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,mortality/aging	-,-	ICGC,
chr10	123731762	123731762	G	-	intronic	NSMCE4A	unknown	deletion	-	-	-	0.0003	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr17	5383948	5383948	G	T	intronic	DERL2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	UTCA-FR|1|20|0.05000	-	-	mortality/aging	-	ICGC,
chr9	131018639	131018639	T	G	UTR3	GOLGA2	unknown	SNV	-	-	-	0.1551	rs4734	-	0.183107	-	0.203	-	-	LAML-KR|1|205|0.00488,LUSC-KR|1|170|0.00588	-	-	-	-	ICGC,
chr7	41507861	41507861	A	C	intergenic	LINC01449,INHBA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	-,Ovarian epithelial tumours, early onset	ICGC,
chr11	48418364	48418364	G	A	intergenic	OR4C45,OR4A47	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr10	111361060	111361060	A	G	intergenic	RNU6-53P,XPNPEP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CN|1|65|0.01538	-	-	-,-	-,-	ICGC,
chr2	73851305	73851305	T	C	intergenic	ALMS1,NAT8	unknown	SNV	-	-	-	0.0062	rs201918228	-	0.0111821	-	0.007	-	-	PACA-CA|1|268|0.00373	-	-	vision/eye phenotype,-	Schizophrenia|Nephronophthisis-related ciliopathy|Myocardial infarction, early onset, association with|Leber congenital amaurosis|Diabetes, type 1, juvenile|Cardiomyopathy, mitogenic|Alstrom syndrome, atypical|Alstrom syndrome,Microalbuminuria and dysplastic kidney|Altered N-acetylornithine metabolism	ICGC,
chr10	76282933	76282933	A	G	ncRNA_intronic	LOC102723439	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-	-	ICGC,
chr8	20523038	20523038	C	T	intergenic	LZTS1-AS1,LOC286114	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9608254	-	OV-AU|1|93|0.01075	-	-	-,-	-,-	COSMIC,ICGC,
chr5	13051124	13051124	A	G	intergenic	LINC01194,DNAH5	unknown	SNV	-	-	-	3.229e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Asthenozoospermia |Autism |Chronic rhinosinusitis and primary ciliary dyskinesia|Potential protein deficiency|Primary ciliary dyskinesia	ICGC,
chr3	68370621	68370621	G	T	intronic	FAM19A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr2	184346494	184346494	A	T	intergenic	NUP35,ZNF804A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,Neurodevelopmental disease|Reduced cortical gray matter thickness|Schizophrenia and bipolar disorder, association with|Schizophrenia, association with  	ICGC,
chrX	127498066	127498066	G	A	intergenic	ACTRT1,SMARCA1	unknown	SNV	-	-	-	4.684e-05	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,behavior/neurological phenotype	-,-	ICGC,
chr4	65320653	65320653	C	T	intergenic	TECRL,LOC401134	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	ICGC,
chr1	241214780	241214780	C	A	intronic	RGS7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Intellectual disability  |Autism spectrum disorder  	ICGC,
chr8	140640651	140640651	C	T	intronic	KCNK9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	respiratory system phenotype	Birk Barel mental retardation dysmorphism syndrome	ICGC,
chr8	99042724	99042724	C	T	exonic	MATN2	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM5648107	-	-	-	-	normal phenotype	-	COSMIC,COSMIC,
chr15	94928847	94928847	G	A	intronic	MCTP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Coarctation of the aorta |Coarctation of the aorta and hypoplastic left heart syndrome 	ICGC,
chr3	77640880	77640880	A	G	intronic	ROBO2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Autism spectrum disorder  |Urinary tract anomalies|Vesicoureteral reflux	ICGC,
chr7	99990049	99990049	C	A	intronic	PILRA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-	-	ICGC,
chr8	81897386	81897386	C	T	exonic	PAG1	synonymous	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	mortality/aging	-	ICGC,
chr5	179723982	179723982	-	CACAAA	intergenic	MAPK9,GFPT2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	integument phenotype,-	-,Diabetic nephropathy, association with 	ICGC,
chr5	113966738	113966738	C	T	intergenic	KCNN2,TRIM36	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	integument phenotype,-	-,-	ICGC,
chr20	12671865	12671865	A	G	intergenic	BTBD3,LOC101929486	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	NKTL-SG|1|50|0.02000	-	-	-,-	-,-	ICGC,
chr19	19271748	19271748	T	C	intronic	MEF2B,MEF2BNB-MEF2B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr6	160581530	160581530	C	A	intergenic	SLC22A1,SLC22A2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	digestive/alimentary phenotype,homeostasis/metabolism phenotype	Reduced metformin uptake|Reduced function|Optimal imatinib mesylate effectiveness in CML, association|Altered substrate selectivity|Altered metformin metabolism,Metformin clearance, association with|Hypertension|Decreased transporter function|Altered transporter function|Altered gene expression	ICGC,
chr12	121825611	121825611	T	A	intergenic	ANAPC5,RNF34	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22937074	-	PAEN-IT|1|37|0.02703	-	-	-,-	Schizophrenia,-	COSMIC,COSMIC,ICGC,
chr6	117480204	117480204	G	A	intergenic	RFX6,VGLL2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	mortality/aging,-	Diabetes, neonatal, with intestinal atresia|Prostate cancer, susceptibility to ,-	ICGC,
chr21	37015374	37015374	C	T	intergenic	LOC100506403,MIR802	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9157691	-	OV-AU|1|93|0.01075	-	-	-,-	-,-	COSMIC,COSMIC,ICGC,
chr6	21991404	21991404	G	T	ncRNA_intronic	CASC15	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9974062	-	RECA-EU|1|422|0.00237	-	-	-	-	COSMIC,ICGC,
chr16	66155050	66155050	T	C	intergenic	LINC00922,CDH5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,integument phenotype	-,Autism|Haemorrhagic fever with renal syndrome, reduced severity, association with|Schizophrenia	ICGC,
chr12	119772742	119772742	A	C	UTR5	CCDC60	unknown	SNV	-	-	-	0.3225	rs3809306	-	0.355032	-	0.297	-	-	LAML-KR|2|205|0.00976	-	-	-	-	ICGC,
chr4	145615859	145615859	A	-	intronic	HHIP	unknown	deletion	-	-	-	6.786e-05	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176,LIRI-JP|1|258|0.00388	-	-	mortality/aging	Pituitary hormone deficiency, combined|Increased Sp3 binding / decreased enhancer activity|Decreased enhancer activity	ICGC,
chr2	91674612	91674612	G	T	intergenic	NONE,LOC654342	unknown	SNV	-	-	-	0.0001	rs3868572	-	-	-	-	-	-	LUSC-KR|3|170|0.01765	-	-	-,-	-,-	ICGC,
chr4	171927344	171927344	A	C	intergenic	AADAT,LOC100506122	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	vision/eye phenotype,-	-,-	ICGC,
chr14	91408216	91408216	C	T	intronic	RPS6KA5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	integument phenotype	-	ICGC,
chr14	62802384	62802384	G	A	intergenic	LINC00644,KCNH5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,behavior/neurological phenotype	-,Epileptic encephalopathy 	ICGC,
chr8	4274282	4274282	A	C	intronic	CSMD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	Schizophrenia, association with |Hyperinsulinism|Autism|Attention deficit hyperactivity disorder 	ICGC,
chr5	45623312	45623312	C	T	intronic	HCN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Idiopathic epilepsy, generalised 	ICGC,
chr1	50357293	50357293	A	C	intronic	AGBL4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	Autism spectrum disorder, association with	ICGC,
chr3	3080689	3080689	T	G	splicing	CNTN4	splicing	SNV	-	-	-	-	-	-	-	-	-	-	COAD|1|367|0.00272,COADREAD|1|489|0.00204	-	-	-	nervous system phenotype	Spinocerebellar ataxia 16 |Features of 3p deletion syndrome|Autism spectrum disorder |Autism	TCGA,
chr6	103507922	103507922	G	A	intergenic	GRIK2,HACE1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	behavior/neurological phenotype,tumorigenesis	Mental retardation, non-syndromic, autosomal recessive,Wilms tumour 	ICGC,
chr18	71053527	71053527	C	A	intergenic	LOC100505817,FBXO15	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,normal phenotype	-,-	ICGC,
chr12	92737102	92737102	-	TCTA	intergenic	BTG1,CLLU1OS	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	-,-	Keratosis pilaris,-	ICGC,
chr1	78430868	78430868	G	T	exonic	FUBP1	nonsynonymous	SNV	0.091	0.01	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chrX	26232256	26232256	T	C	intergenic	MAGEB6,MAGEB5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	ICGC,
chr9	2610227	2610227	G	A	ncRNA_intronic	VLDLR-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|2|183|0.01093	-	-	-	-	ICGC,
chr8	107182971	107182971	-	GT	intergenic	ZFPM2,OXR1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	integument phenotype,mortality/aging	Atrial septal defect & gonadal dysgenesis|Diaphragmatic hernia, congenital|Double outlet right ventricle |Gonadal dysgenesis |Reduced activity|Tetralogy of Fallot ,-	ICGC,
chrX	85818370	85818370	T	A	intronic	DACH2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN4981086	-	ESAD-UK|1|301|0.00332	-	-	normal phenotype	-	COSMIC,ICGC,
chr3	157701291	157701291	C	T	intergenic	C3orf55,SHOX2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,mortality/aging	-,Schizophrenia	ICGC,
chr4	177605082	177605084	TCA	-	exonic	VEGFC	nonframeshift	deletion	-	-	0.9991	0.9958	rs3062984	0.9990	0.997005	0.9956	-	COSM5713112	-	-	-	-	mortality/aging	Lymphoedema, primary, Milroy-like	COSMIC,
chrX	150618193	150618193	A	G	intergenic	VMA21,PASD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	X-linked myopathy with excessive autophagy,-	ICGC,
chr7	112756632	112756632	C	T	downstream	LINC00998	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-	-	ICGC,
chr11	29157967	29157967	G	A	intergenic	MIR8068,KCNA4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,behavior/neurological phenotype	-,-	ICGC,
chr7	63326114	63326114	G	A	intergenic	MIR4283-2,LINC01005	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr10	22772096	22772096	A	T	intergenic	LOC100499489,PIP4K2A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9201262	-	OV-AU|1|93|0.01075	-	-	-,-	-,Schizophrenia, association with  |Hyperdiploid acute lymphoblastic leukaemia, association with	COSMIC,ICGC,
chr7	4284140	4284140	C	T	intronic	SDK1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr5	83774736	83774736	A	C	intergenic	EDIL3,NBPF22P	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7582244	-	PACA-AU|1|391|0.00256	-	-	immune system phenotype,-	Schizophrenia  ,-	COSMIC,ICGC,
chr2	164712687	164712698	ATTATTATTATT	-	intergenic	FIGN,GRB14	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|4|67|0.05970	-	-	integument phenotype,hematopoietic system phenotype	-,-	ICGC,
chr1	188522140	188522141	TA	-	intergenic	PLA2G4A,BRINP3	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,-	Asthma, association with|Cryptogenic multifocal ulcerating stenosing enteritis|Increased enzyme activity|Prostanoid biosynthesis deficiency,-	ICGC,
chr19	38340795	38340795	A	T	ncRNA_intronic	LOC100631378	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-	-	ICGC,
chr5	161666182	161666182	G	A	intergenic	GABRG2,CCNG1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19359830	-	LICA-FR|1|252|0.00397	-	-	mortality/aging,mortality/aging	Seizures, generalized tonic-clonic|Myoclonic epilepsy of infancy |Generalized epilepsy with febrile seizures plus|Febrile seizures|Epilepsy, susceptibility to|Epilepsy, idiopathic generalised  |Epilepsy, childhood absence with febrile seizures|Dravet syndrome,-	COSMIC,ICGC,
chr4	161035006	161035006	G	T	intergenic	RAPGEF2,FSTL5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16784761	-	PACA-CA|1|268|0.00373	-	-	integument phenotype,-	-,Schizophrenia  |Rolandic epilepsy 	COSMIC,ICGC,
chr12	49137693	49137693	G	A	ncRNA_intronic	LINC00935	unknown	SNV	-	-	-	3.823e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr6	80782269	80782269	C	T	intergenic	TTK,BCKDHB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	reproductive system phenotype,-	Schizophrenia,Maple syrup urine disease	ICGC,
chr1	53501066	53501066	A	-	intronic	SCP2	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332,PACA-CA|2|268|0.00746	-	-	immune system phenotype	Autism|SCP2 deficiency	ICGC,
chr8	13846839	13846839	G	T	intergenic	C8orf48,SGCZ	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN4877500	-	MALY-DE|1|241|0.00415	-	-	-,-	-,Cervical artery dissection	COSMIC,ICGC,
chr16	48750334	48750334	A	G	intergenic	N4BP1,CBLN1	unknown	SNV	-	-	-	0.0267	rs58175354	-	0.0826677	-	0.072	-	-	LAML-KR|2|205|0.00976	-	-	no phenotypic analysis,behavior/neurological phenotype	-,-	ICGC,
chr21	15764772	15764772	C	T	intergenic	HSPA13,SAMSN1	unknown	SNV	-	-	-	0	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,hematopoietic system phenotype	-,-	ICGC,
chr17	56143112	56143112	A	G	intergenic	SRSF1,LOC101927666	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	-,-	ICGC,
chr3	141688959	141688959	G	T	exonic	TFDP2	synonymous	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr5	178771029	178771029	C	T	exonic	ADAMTS2	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM1436495	COAD|1|367|0.00272,COADREAD|1|489|0.00204	COAD-US|1|254|0.00394	-	-	integument phenotype	Ehlers-Danlos syndrome VIIc	COSMIC,COSMIC,TCGA,ICGC,
chr1	29717058	29717058	C	T	intergenic	LOC101928460,LOC101929406	unknown	SNV	-	-	-	0.4045	rs4654336	-	0.262181	-	0.304	-	-	LAML-KR|1|205|0.00488	-	-	-,-	-,-	ICGC,
chr3	86031639	86031639	A	G	intronic	CADM2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr6	62778383	62778383	C	T	intronic	KHDRBS2	unknown	SNV	-	-	-	0.0002	rs565198130	-	0.00239617	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-	-	ICGC,
chr7	36595404	36595404	G	A	intronic	AOAH	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	immune system phenotype	Colorectal cancer, increased risk, association with	ICGC,
chr4	133499945	133499945	C	T	intergenic	NONE,PCDH10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408,UTCA-FR|1|20|0.05000	-	-	-,mortality/aging	-,Schizophrenia|Potential protein deficiency	ICGC,
chr18	27745561	27745561	G	A	intergenic	CDH2,MIR302F	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging,-	Reduced expression|Potential protein deficiency|Alzheimer disease  ,-	ICGC,
chr2	133198920	133198920	C	T	intronic	GPR39	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	behavior/neurological phenotype	-	ICGC,
chr1	242994754	242994754	T	A	intergenic	PLD5,LINC01347	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5739739	-	LINC-JP|1|394|0.00254	-	-	-,-	-,-	COSMIC,ICGC,
chr6	96894186	96894186	A	T	intergenic	FUT9,UFL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	OV-AU|1|93|0.01075	-	-	normal phenotype,mortality/aging	-,Schizophrenia	ICGC,
chr7	9193711	9193711	A	G	intergenic	NXPH1,PER4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	Breast cancer, increased risk  ,-	ICGC,
chr1	25642783	25642783	G	A	intronic	RHD	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype	Rhesus negative blood group|RhD blood group variant (RhDVII)|RhD blood group variant (RhDIII)|RhD blood group variant (RhDel)|RhD blood group variant|Reduced expression (weak D) 	ICGC,
chr7	152448504	152448504	A	C	intergenic	XRCC2,ACTR3B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Fanconi anaemia|Cervical cancer risk, association with|Breast cancer, in non-breast feeders, reduced risk, association|Breast cancer, association with|Breast cancer  ,-	ICGC,
chr2	228887415	228887415	G	A	intronic	SPHKAP	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr2	19591961	19591961	G	C	intergenic	OSR1,LINC00954	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16450457	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging,-	Reduced newborn kidney size and function, association,-	COSMIC,ICGC,
chr1	173438240	173438240	G	A	ncRNA_intronic	LOC100506023	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr8	68789600	68789600	T	A	intergenic	CPA6,PREX2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,behavior/neurological phenotype	Temporal lobe epilepsy, association with|Temporal lobe epilepsy|Reduced protein expression|Reduced activity|Potential protein deficiency|Febrile seizures|Duane retraction syndrome 1,-	ICGC,
chr11	25931982	25931982	A	G	intergenic	LUZP2,ANO3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	normal phenotype,-	Anorectal malformation,Craniocervical dystonia|Dystonia, primary torsion	ICGC,
chr9	134684938	134684938	C	T	intergenic	RAPGEF1,MED27	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Intellectual disability  ,-	ICGC,
chr6	157432626	157432626	C	T	intronic	ARID1B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22378631	-	BRCA-EU|1|569|0.00176	-	-	-	Schizophrenia|Nicolaides-Baraitser syndrome|Intellectual disability, plantar fat pads & facial dysmorphism|Intellectual disability, corpus callosum abnormalities, speech impairment & autism|Intellectual disability & speech impairment|Intellectual disability & agenesis of corpus callossum|Intellectual disability  |Developmental delay, dysmorphic features, dysgenesis of the corpus callosum, limb anomalies & genital hypoplasia|Coffin-Siris syndrome|Autism?|Autism spectrum disorder|Autism	COSMIC,ICGC,
chr10	93175715	93175715	T	C	ncRNA_intronic	LOC100188947	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr4	127244325	127244325	C	T	intergenic	MIR2054,INTU	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Anorectal malformation	ICGC,
chr18	26847716	26847716	T	C	intergenic	CDH2,MIR302F	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	Reduced expression|Potential protein deficiency|Alzheimer disease  ,-	ICGC,
chr13	91457878	91457878	G	A	intergenic	LINC01049,LINC00410	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr10	128468121	128468121	A	C	intergenic	C10orf90,DOCK1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23286791	-	MALY-DE|1|241|0.00415	-	-	-,mortality/aging	-,Potential protein deficiency	COSMIC,ICGC,
chr2	211741888	211741888	C	T	intergenic	CPS1,ERBB4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,integument phenotype	VACTERL |Neonatal pulmonary hypertension, association with|Necrotizing enterocolitis, in preterm infants, association with|Hyperammonaemia, association with|Carbamoyl phosphate synthetase I deficiency|Altered Nitric oxide production and vascular smooth muscle reactivity|Altered glycine metabolism,Schizophrenia |Oligohydramnios|Intellectual disability, hyperactivity & speech developmental delay|Increased promoter activity|Hepatocellular carcinoma, increased risk, association with|Epileptic encephalopathy, early infantile 3|Breast and colorectal cancer, association with|Bipolar disorder, association with |Bipolar disorder |Autism spectrum disorder  |Amyotrophic lateral sclerosis type 19	ICGC,
chr16	13317210	13317210	C	T	intronic	SHISA9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-	-	ICGC,
chr4	180478216	180478216	G	T	intergenic	LINC01098,LINC00290	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr4	161546412	161546412	G	A	intergenic	RAPGEF2,FSTL5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BOCA-UK|1|130|0.00769	-	-	integument phenotype,-	-,Schizophrenia  |Rolandic epilepsy 	ICGC,
chr8	14467512	14467512	G	A	intronic	SGCZ	unknown	SNV	-	-	-	-	rs374852835	-	0.000399361	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Cervical artery dissection	ICGC,
chr2	174021990	174021990	C	T	intronic	ZAK	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr12	76079809	76079809	G	A	intergenic	KRR1,PHLDA1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-FR|1|72|0.01389	-	-	-,immune system phenotype	-,-	ICGC,
chr5	100666025	100666025	A	G	intergenic	ST8SIA4,SLCO4C1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PEME-CA|1|112|0.00893	-	-	mortality/aging,-	-,-	ICGC,
chr2	50343482	50343482	T	C	intronic	NRXN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	mortality/aging	Hypotonia|Hypotonia & encephalopathy|Increased white matter volume, association with|Intellectual disability  |Intellectual disability & attention deficit hyperactivity disorder|Intellectual disability & hearing loss|Intellectual disability & pervasive developmental disorder|Intellectual disability and autism|Intellectual disability, nonsyndromic |Intellectual disability, seizures, dysmorphisms & language delay|Growth retardation  |Epilepsy, myoclonic seizures & speech delay|Developmental disorder|Developmental disorder & attention deficit hyperactivity disorder|Developmental disorder, seizures & attention deficit hyperactivity disorder|Developmental/intellectual disability, hypotonia & dysmorphic features|Disorder of muscle, ligament & fascia|Encephalopathy  |Epilepsy  |Epilepsy with cognitive impairment / autism spectrum disorder|Epilepsy with focal seizures|Epilepsy, generalised |Intellectual disability, seizures, language delay & hypotonia|Language delay|Learning difficulties|Respiratory distress & sepsis|Respiratory distress syndrome|Schizophrenia |Schizophrenia, childhood onset |Schizophrenia, disorganised type|Seizures, generalized tonic-clonic & attention deficit hyperactivity disorder|Sensory integration disorder & attention deficit hyperactivity disorder|Speech delay & social communication difficulties|Tourette syndrome|Pervasive developmental disorder / hypotonia|Pervasive developmental disorder|Pervasive developmental delay / mental retardation, lack of coordination & hearing loss|Learning difficulties, ADHD & autism|Mental retardation|Mental retardation, autism, vertebral malformations|Mental retardation, Pitt-Hopkins-like|Microcephaly & mental retardation|Multiple congenital anomalies  |Multiple disabilities|Myoclonic epilepsy   |Neurodevelopmental disorder  |Vertebral anomalies|Developmental delay, speech delay & social communication difficulties|Attention deficit hyperactivity disorder |Autism spectrum disorder, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability & language delay|Autism spectrum disorder, intellectual disability, dysmorphisms, developmental delay & language delay|Autism spectrum disorder, intellectual disability, seizures & developmental delay|Autism spectrum disorder, intellectual disability, seizures, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability, seizures, dysmorphisms & language delay|Autism spectrum disorder, seizures, developmental delay & language delay|Autism, intellectual disability & attention deficit hyperactivity disorder|Autistic disorder|Autism spectrum disorder with developmental & speech delay|Autism spectrum disorder & seizures|Autism spectrum disorder & language delay|Autism |Autism & learning difficulties|Autism & mental retardation|Autism & seizures|Autism spectrum disorder|Autism spectrum disorder & attention deficit hyperactivity disorder|Autism spectrum disorder & developmental delay|Autism spectrum disorder & dysmorphic features|Autism spectrum disorder & intellectual disability|Behavioural problems|Congenital heart defect  |Craniofacial dysmorphism|Developmental delay & speech/motor delay|Developmental delay with early-onset epilepsy|Developmental delay, dysmorphic features & short stature|Developmental delay, epilepsy, autism|Developmental delay, language delay & hypotonia|Developmental delay, learning difficulties, ADHD|Developmental delay, microcephaly & behavioural problems|Developmental delay, pulmonic stenosis & autism spectrum disorder|Developmental delay, short stature and diaphragmatic hernia|Developmental delay, speech delay & microcephaly|Developmental delay & seizures|Developmental delay & seizure disorder|Cystic hygroma, hydrops & micrognathia|Cystic hygroma, shortened upper limbs & fetal demise|Developmental & speech delay|Developmental delay|Developmental delay / autism|Developmental delay & autism|Developmental delay & dysmorphic features|Developmental delay & epilepsy|Developmental delay & hypotonia|Developmental delay & multiple congenital anomalies	ICGC,
chr17	60968578	60968578	C	A	ncRNA_intronic	MIR548W	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr17	30299423	30299424	TA	-	intronic	SUZ12	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	mortality/aging	-	ICGC,
chr8	94817039	94817039	G	T	exonic	TMEM67	nonsynonymous	SNV	0.0	1.0	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Senior-Loken syndrome  |Nephronophthisis-related ciliopathy|Nephronophthisis with liver fibrosis|Meckel-Gruber syndrome|Meckel syndrome with cerebellar heterotopia|Meckel syndrome|Joubert syndrome|COACH syndrome|Bardet-Biedl syndrome	ICGC,
chr5	89451246	89451246	C	T	intergenic	MIR3660,LINC01339	unknown	SNV	-	-	-	3.236e-05	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-,-	-,-	ICGC,
chr11	96901004	96901004	C	A	intergenic	JRKL-AS1,MIR7976	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr3	181201114	181201114	T	C	ncRNA_intronic	SOX2-OT	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20610600	-	BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr19	7659338	7659338	-	C	intergenic	PNPLA6,CAMSAP3	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	OV-AU|1|93|0.01075	-	-	integument phenotype,-	Sporadic ataxia / Gordon Holmes syndrome|Sporadic ataxia|Spastic paraplegia.|Spastic paraplegia, autosomal recessive|Motor neuron disease|Gordon Holmes syndrome|Boucher-Neuhäuser syndrome,-	ICGC,
chr2	31120083	31120083	G	A	intergenic	CAPN13,GALNT14	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2512798	-	-	-	-	-,-	Leukemia, risk, association with ,-	COSMIC,
chr4	110056839	110056839	A	T	intronic	COL25A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-	Potential protein deficiency	ICGC,
chr14	38253750	38253750	A	C	intergenic	FOXA1,SSTR1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN14982615	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,vision/eye phenotype	Impaired glucose homeostasis ,-	COSMIC,ICGC,
chr4	179226927	179226927	G	T	intergenic	LINC01098,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7632628	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	COSMIC,ICGC,
chr8	111693753	111693753	A	T	intergenic	KCNV1,CSMD3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,-	-,Schizophrenia  |Colorectal cancer 	ICGC,
chr18	35286836	35286836	C	A	intergenic	MIR4318,LINC00669	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr10	90493591	90493591	C	T	intronic	LIPK	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Schizophrenia	ICGC,
chr6	122903490	122903490	A	C	intronic	PKIB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	normal phenotype	-	ICGC,
chr7	67480210	67480210	G	A	intergenic	LINC01372,LOC102723427	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	177166988	177166988	G	C	ncRNA_intronic	LINC00578	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-	-	ICGC,
chr18	35843616	35843616	T	C	intergenic	MIR4318,LINC00669	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16437505	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr7	140144559	140144559	-	TATAATAATAATAAT	intergenic	RAB19,MKRN1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,normal phenotype	-,-	ICGC,
chr10	54503805	54503805	G	A	intergenic	LOC101928687,MBL2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-AU|1|391|0.00256	-	-	-,hematopoietic system phenotype	-,Leprosy, association with|Lung cancer survival, association with|Mannose-binding protein deficiency, association|Placental malaria, susceptibility to, association with|Systemic lupus erythematosus, association with|Tuberculosis, protection against, association with|Type 2 diabetes, association with|Ulcerative colitis, association with.|Vulvovaginal candidiasis, recurrent, association with|Lepromatous leprosy, protection against, association with|Kawasaki disease, association with|Antiphospholipid syndrome, association with|Bacterial infection, increased risk, association with|Colon cancer, association with|Crohn's disease, in children, association with|Dental caries, association with.|HIV-1 infection, increased susceptibility, association with|HIV-1 infection, susceptibility, association|Increased serum MBL level |Infection, in children, association with.	ICGC,
chr1	19117724	19117724	-	CACACAGA	intergenic	PAX7,TAS1R2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	mortality/aging,taste/olfaction phenotype	Increased transcription,Reduced sugar consumption in obesity, association	ICGC,
chr1	145562640	145562640	C	T	exonic	ANKRD35	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM4479460	-	-	-	-	-	-	COSMIC,
chr4	135497477	135497477	T	A	intergenic	PABPC4L,LINC00613	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	Autism spectrum disorder  ,-	ICGC,
chr7	94964303	94964303	T	A	intergenic	PON1,PON3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19573327	-	-	-	-	cardiovascular system phenotype,mortality/aging	Myocardial infarction, association with|Metabolic syndrome, association with.|Macular Degeneration, wet, age-related, association with|Macular Degeneration, age-related, protection, association|Macular degeneration, age related |Longevity, association with|Ischemic stroke risk, association with|Ovarian epithelial carcinoma, reduced risk, association with|Paraoxonase activity variant|Plasma lipoproteins, association with|Potential protein deficiency|Preeclampsia, increased risk|Prostate cancer, increased risk, association with|Rheumatoid arthritis, association with|Stroke, association with|Three-vessel stenosis in coronary artery disease|Ischaemic stroke, reduced risk|Increased risk of obesity in Portugese women, association with|Hypertension, association with.|Amyotrophic lateral sclerosis  |Bipolar I disorder, association with.|Bladder cancer, protection against, association with|Breast cancer, association with|Breast cancer, association with.|CAD and ischemic stroke risk|Carotid plaque in rheumatoid arthritis, decreased risk|Chronic kidney disease, association with|CKD in individuals with high serum LDL-cholesterol, association|Higher homocysteine thiolactonase activity|High C-reactive protein levels|Hepatitis, association with.|Fabry disease, association with.|Coronary heart disease, reduced risk, association with|Coronary artery disease, association with|Coronary artery disease risk, association with,Amyotrophic lateral sclerosis  |Paraoxonase activity variant 	COSMIC,
chr4	169666230	169666230	A	G	intronic	PALLD	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Myocardial infarction, association with |Pancreatic cancer	ICGC,
chr6	54992656	54992656	C	T	intergenic	FAM83B,HCRTR2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,behavior/neurological phenotype	-,Tourette syndrome|Panic disorder, in females, association with|Excessive daytime sleepiness|Cluster headache, association with 	ICGC,
chr11	22435449	22435449	A	C	intergenic	SLC17A6,LOC102723378	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	integument phenotype,-	-,-	ICGC,
chr16	26728775	26728775	C	T	intergenic	HS3ST4,C16orf82	unknown	SNV	-	-	-	3.228e-05	-	-	-	-	-	COSN21101989	-	PACA-CA|1|268|0.00373,BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr12	9573167	9573167	C	T	ncRNA_exonic	DDX12P	unknown	SNV	-	-	-	-	-	-	-	-	-	COSM944654	UCEC|1|248|0.00403	UCEC-US|1|250|0.00400	-	-	-	-	COSMIC,TCGA,ICGC,
chr6	121688427	121688427	C	T	intergenic	TBC1D32,GJA1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	Oro-facio-digital syndrome type IX,Sudden infant death syndrome |Oculodentodigital dysplasia with primary lymphoedema|Oculodentodigital dysplasia|Neurologic dysfunction|Heart malformations|Hallerman-Streiff/ODDD syndrome|Ectodermal & oculodentodigital dysplasia with skin hyperkeratosis|Attenuated phenotype in glaucoma |Cleft lip in oculodentodigital dysplasia.|Craniometaphyseal dysplasia|Deafness|Deafness, autosomal recessive	ICGC,
chr2	81099843	81099843	C	T	intergenic	CTNNA2,LOC100507201	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Schizophrenia,-	ICGC,
chr4	74277775	74277775	T	A	exonic	ALB	nonsynonymous	SNV	0.003	1.0	-	-	-	-	-	-	-	-	HNSC|1|512|0.00195	-	-	-	mortality/aging	Dysalbuminaemic hyperthyroxinaemia, familial|Bisalbuminaemia|Analbuminaemia|Albumin variant	TCGA,
chr6	97386847	97386847	C	G	intronic	KLHL32	unknown	SNV	-	-	-	0.0674	rs55953260	-	0.0505192	-	0.051	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr8	14493116	14493116	C	T	intronic	SGCZ	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813,SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-	Cervical artery dissection	ICGC,
chr9	9003797	9003797	G	A	intronic	PTPRD	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6398237	-	LIRI-JP|1|258|0.00388	-	-	integument phenotype	Restless legs syndrome, association with|Ewing sarcoma	COSMIC,ICGC,
chr6	70129116	70129116	-	CTAATAATAATAATA	intergenic	BAI3,LMBRD1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,Methylmalonic aciduria & homocystinuria, cblF type	ICGC,
chr4	149931537	149931537	C	A	intergenic	NR3C2,DCLK2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22566464	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging,mortality/aging	Myocardial infarction, increased risk, association with|Neonatal stress, association with|Pseudohypoaldosteronism 1|Pseudohypoaldosteronism type 1, autosomal dominant|Reduced expression|Reduced expression, association with|Increased BMI and LDL-cholesterol, association with|Increased blood pressure, association with|Increased amygdala reactivity, with prior childhood emotional neglect, association with.|Autism |Blood pressure variation in response to potassium, association with|Cortisol awakening response in women, association with|Fibromyalgia|Higher ADHD symptom dimensions, association with|Hypertension, early onset exacerbated in pregnancy,-	COSMIC,ICGC,
chr1	70175663	70175663	G	A	intergenic	DEPDC1-AS1,LRRC7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,-	ICGC,
chr18	49795567	49795567	C	A	intergenic	LOC100287225,DCC	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20129065	-	PACA-CA|1|268|0.00373	-	-	-,mortality/aging	-,Altered p53 transactivation|Colorectal cancer, risk, association with |Mirror movements, congenital	COSMIC,ICGC,
chr9	76679123	76679132	ATTTATTTAT	-	ncRNA_intronic	MIR6130	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr1	213601107	213601107	G	A	intergenic	RPS6KC1,LINC00538	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr7	57670354	57670354	G	T	intergenic	ZNF716,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27944568	-	PRAD-CA|1|308|0.00325	-	-	-,-	-,-	COSMIC,ICGC,
chr1	30865418	30865418	-	A	intergenic	LOC101929406,MATN1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,skeleton phenotype	-,-	ICGC,
chr6	136482549	136482549	A	T	intronic	PDE7B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-	Reduced promoter activity	ICGC,
chr11	22414118	22414118	T	C	intergenic	SLC17A6,LOC102723378	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15673916	-	LIRI-JP|1|258|0.00388	-	-	integument phenotype,-	-,-	COSMIC,ICGC,
chr7	9462439	9462439	A	G	intergenic	NXPH1,PER4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	mortality/aging,-	Breast cancer, increased risk  ,-	ICGC,
chr4	30657890	30657890	C	G	intergenic	MIR4275,PCDH7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	-,-	-,-	ICGC,
chr3	69106618	69106618	C	T	intronic	UBA3	unknown	SNV	-	-	-	3.229e-05	rs537221370	-	0.000199681	-	-	-	-	LUSC-KR|2|170|0.01176	-	-	mortality/aging	Altered p53 binding|Breast cancer, non-BRCA1/BRCA2 related	ICGC,
chr10	18229474	18229474	T	C	intergenic	MRC1,SLC39A12	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	mortality/aging,-	Leprosy, protection against, association with,-	ICGC,
chr5	60340046	60340046	G	C	intronic	NDUFAF2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	Mitochondrial encephalomyopathy with dysmorphism & hepatopathy|Mitochondrial complex I deficiency|Complex I deficiency	ICGC,
chr12	32028194	32028194	C	T	intergenic	H3F3C,KIAA1551	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr7	147797295	147797295	C	T	ncRNA_intronic	MIR548F3,MIR548T	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	13931680	13931680	T	C	intergenic	WNT7A,FGD5P1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	integument phenotype,-	AA/RRS & Fuhrmann syndrome|Al-Awadi-Raas-Rothschild syndrome|Congenital duplication of the palm syndrome|Fuhrmann syndrome|Ulnar and fibula absence, with severe limb deficiency,-	ICGC,
chr8	145623813	145623813	C	A	exonic	CPSF1	nonsynonymous	SNV	-	0.898	-	-	-	-	-	-	-	-	PAAD|1|185|0.00541	-	-	-	-	-	TCGA,
chr22	44127080	44127080	G	A	intronic	EFCAB6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Potential protein deficiency	ICGC,
chr3	172622120	172622120	A	G	intronic	SPATA16	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9763983	-	RECA-EU|1|422|0.00237	-	-	-	Globozoospermia	COSMIC,ICGC,
chr20	10094507	10094507	G	A	ncRNA_intronic	SNAP25-AS1	unknown	SNV	-	-	-	9.683e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr2	81221662	81221662	A	G	intergenic	CTNNA2,LOC100507201	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Schizophrenia,-	ICGC,
chr2	166821570	166821570	T	A	ncRNA_intronic	LOC102724058	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26861911	-	UTCA-FR|1|20|0.05000	-	-	-	-	COSMIC,COSMIC,ICGC,
chr8	15678447	15678447	T	G	intergenic	TUSC3,MSR1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	Mental retardation, non-syndromic, autosomal recessive|Intellectual disability, syndromic  |Intellectual disability, nonsyndromic, autosomal recessive|Intellectual disability & autism|Attention deficit hyperactivity disorder ,Prostate cancer, association with|Prostate cancer|Chronic obstructive pulmonary disease, in smokers, association with|Barrett oesophagus/oesophageal adenocarcinoma|Atherosclerosis, increased risk, association with	ICGC,
chr3	140591271	140591271	G	A	intergenic	TRIM42,SLC25A36	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr8	14270305	14270305	G	A	intronic	SGCZ	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Cervical artery dissection	ICGC,
chr13	34684800	34684800	A	G	intergenic	RFC3,LINC00457	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	59771784	59771784	-	T	intronic	FHIT	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN14698610	-	-	-	-	integument phenotype	-	COSMIC,
chr9	100395720	100395720	G	A	UTR5	NCBP1,TSTD2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr6	92518516	92518516	T	A	intergenic	CASC6,EPHA7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,nervous system phenotype	-,Development delay and dysmorphic features|Leukemia, risk, association with 	ICGC,
chr1	19795678	19795678	G	T	intronic	CAPZB	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1095589	-	-	-	-	mortality/aging	-	COSMIC,
chr8	64729638	64729638	G	A	intergenic	LINC01289,MIR124-2HG	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr20	4438443	4438443	G	A	intergenic	ADRA1D,PRNP	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,mortality/aging	-,Pan-autonomic failure, sensory neuropathy & cognitive impairment|Leg hyperreflexia in Gerstmann-Sträussler-Scheinker syndrome|Gerstmann-Sträussler-Scheinker syndrome.|Gerstmann-Sträussler-Scheinker syndrome and Creutzfeldt-Jakob disease, rapidly progressive.|Gerstmann-Sträussler-Scheinker syndrome  presenting as familial Creutzfeldt-Jakob disease|Gerstmann-Straeussler-Scheinker syndrome|Gerstmann-Straeussler syndrome, association with|Gerstmann-Straeussler syndrome|Parkinson disease  |Presenile dementia and hypokinetic syndrome|Wilson disease, neurological, modifier of|Spongiform encephalopathy, familial|Schizoaffective disorder|PrP cerebral amyloid angiopathy|Progressive ataxo-spastic syndrome with mild cognitive impairment|Prion disease, resistance to, association with|Prion disease|Primary dementia with prominent frontotemporal signs|Gastric cancer|Fatal insomnia|Creutzfeldt-Jakob syndrome|Creutzfeldt-Jakob disease, slowly progressive.|Creutzfeldt-Jakob disease, rapidly progressive.|Creutzfeldt-Jakob disease, rapidly progressive, and Creutzfeldt-Jakob disease, slowly progressive.|Creutzfeldt-Jakob disease risk, association with|Atypical parkinsonism.|Alzheimer disease risk|Alzheimer disease|Creutzfeldt-Jakob syndrome, protection, association with|Creutzfeldt-Jakob syndrome, sporadic, association|Fatal familial insomnia, association with|Fatal familial insomnia|Encephalopathy, familial|Diarrhoea, autonomic failure & neuropathy|Dementia, young-onset|Dementia, neurodegenerative|Dementia|Creutzfeldt-Jakob syndrome.	ICGC,
chr22	25328523	25328523	C	T	intergenic	SGSM1,TMEM211	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr13	26339180	26339180	C	A	intronic	ATP8A2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7396916	-	-	-	-	-	Mental retardation |Cerebellar ataxia, mental retardation and dysequilibrium syndrome	COSMIC,
chr3	136519982	136519982	C	T	intergenic	STAG1,SLC35G2	unknown	SNV	-	-	-	0.0001	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Intellectual disability, nonsyndromic,-	ICGC,
chr8	116970699	116970699	G	A	ncRNA_intronic	LINC00536	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr9	106340138	106340138	C	T	intergenic	LOC101928496,LOC101928523	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	126219580	126219580	C	T	intergenic	CNTNAP5,GYPC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Autism,Glycophorin C variant|Gerbich-negative blood group|Elliptocytosis|Duch blood group	ICGC,
chr1	81250195	81250195	G	A	intergenic	ELTD1,LPHN2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538,MELA-AU|1|183|0.00546	-	-	normal phenotype,mortality/aging	-,Schizophrenia	ICGC,
chr18	58130434	58130434	C	T	intergenic	MC4R,CDH20	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	hematopoietic system phenotype,-	Obesity, severe|Reduced activity|Reduced function   |Reduced transcriptional activity|Weight loss after gastric bypass surgery, association with|Obesity, protection against, association with|Obesity, early onset|Obesity, autosomal dominant, association with|Obesity, autosomal dominant|Obesity, association with.|Obesity|Melanocortin-4 receptor variant|Decreased body mass, association with,-	ICGC,
chr5	110013022	110013022	-	T	intronic	TMEM232	unknown	insertion	-	-	-	0.0002	rs542249453	-	0.000599042	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr1	143497519	143497519	C	A	intergenic	LOC102723769,MIR6077	unknown	SNV	-	-	-	-	rs375164751	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr9	26836414	26836414	-	AAGACAAT	intergenic	LOC100506422,CAAP1	unknown	insertion	-	-	-	0.0742	rs571085176	-	0.0557109	-	-	-	-	PEME-CA|1|112|0.00893	-	-	-,-	-,-	ICGC,
chr8	16639000	16639000	A	C	intergenic	MSR1,FGF20	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,hearing/vestibular/ear phenotype	Prostate cancer, association with|Prostate cancer|Chronic obstructive pulmonary disease, in smokers, association with|Barrett oesophagus/oesophageal adenocarcinoma|Atherosclerosis, increased risk, association with,Larger hippocampal volume, association with|Parkinson disease, increased risk, association with	ICGC,
chr8	62279477	62279477	T	C	intronic	CLVS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19471505	-	-	-	-	-	-	COSMIC,
chrX	54266694	54266694	C	A	intronic	WNK3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23850965	-	ORCA-IN|1|178|0.00562	-	-	cardiovascular system phenotype	Tetralogy of Fallot	COSMIC,ICGC,
chr22	47867231	47867231	T	G	ncRNA_intronic	LOC101927722	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr8	63748499	63748499	A	T	intronic	NKAIN3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27741044	-	NKTL-SG|1|50|0.02000	-	-	-	Dravet syndrome   	COSMIC,ICGC,
chr3	142127839	142127839	G	A	intronic	XRN1	unknown	SNV	-	-	-	3.23e-05	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-	-	ICGC,
chr12	129429286	129429286	T	C	intronic	GLT1D1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1144607	-	-	-	-	-	-	COSMIC,
chr13	31860203	31860203	G	A	intronic	B3GALTL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-	Peters-Plus syndrome	ICGC,
chr1	79798795	79798795	G	A	intergenic	ELTD1,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	normal phenotype,-	-,-	ICGC,
chr1	59195388	59195388	A	G	intergenic	MYSM1,JUN	unknown	SNV	-	-	-	0.0304	rs190972811	-	-	-	-	-	-	LAML-KR|1|205|0.00488	-	-	integument phenotype,integument phenotype	Anaemia, transfusion-dependent, thrombocytopaenia, and low NK- and B- cell counts,Colorectal cancer, increased risk, association with|Lung cancer, increased risk, association with	ICGC,
chr11	106468162	106468162	G	T	intergenic	LOC101928535,GUCY1A2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN10077245	-	RECA-EU|1|422|0.00237	-	-	-,hematopoietic system phenotype	-,-	COSMIC,ICGC,
chr7	8587370	8587370	G	A	intronic	NXPH1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging	Breast cancer, increased risk  	ICGC,
chr2	112539418	112539418	C	T	intronic	ANAPC1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Potential protein deficiency	ICGC,
chr2	111683319	111683319	A	G	intronic	ACOXL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr19	3119226	3119226	C	T	exonic	GNA11	nonsynonymous	SNV	0.005	1.0	-	-	-	-	-	-	-	COSM6053822	-	-	-	-	integument phenotype	Tetralogy of Fallot|Hypoparathyroidism  |Hypocalcaemia|Hypercalcaemia, hypocalciuric type 2	COSMIC,
chr2	149984725	149984725	C	T	intronic	LYPD6B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-	-	ICGC,
chr3	148922743	148922743	C	T	intronic	CP	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	hematopoietic system phenotype	Transferrin saturation, association with|Substantia nigra hyperechogenicity in Parkinsonism, association with|Rolandic epilepsy |Parkinsonism, association with|Multiple sytem atrophy|Ceruloplasmin deficiency with hemosiderosis|Aceruloplasminaemia with parkinsonism|Aceruloplasminaemia with hepatic iron overload and diabetes|Aceruloplasminaemia with diabetes|Aceruloplasminaemia	ICGC,
chr5	92005085	92005085	G	A	intergenic	ARRDC3-AS1,NR2F1-AS1	unknown	SNV	-	-	-	-	rs185196325	-	0.000199681	-	-	COSN7779218	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	COSMIC,ICGC,
chrX	36176545	36176545	G	A	intergenic	CHDC2,CXorf30	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr9	5114933	5114936	AAAC	-	intronic	JAK2	unknown	deletion	-	-	-	0.0065	rs766039882	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype	Myeloproliferative neoplasms|Polycythaemia  |Thrombocytosis	ICGC,
chr4	39779461	39779461	A	G	intronic	UBE2K	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5060394	-	LINC-JP|1|394|0.00254	-	-	cellular phenotype	-	COSMIC,COSMIC,ICGC,
chr2	67854344	67854344	A	G	intergenic	ETAA1,LOC101927701	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr22	17088404	17088404	T	-	ncRNA_intronic	TPTEP1	unknown	deletion	-	-	-	0.0357	rs376304003	-	0.0319489	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-	-	ICGC,
chr9	73372596	73372596	C	A	intronic	TRPM3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23694915	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype	Schizophrenia  |Mental retardation	COSMIC,ICGC,
chr5	172907696	172907696	G	T	intergenic	MIR8056,LOC285593	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8209026	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	COSMIC,COSMIC,ICGC,
chr7	129383162	129383162	T	A	intronic	NRF1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24502188	-	GACA-CN|1|123|0.00813	-	-	mortality/aging	-	COSMIC,ICGC,
chr3	195365626	195365626	G	A	intergenic	APOD,SDHAP2	unknown	SNV	-	-	-	0.3642	rs376974110	-	-	-	-	-	-	LAML-KR|2|205|0.00976	-	-	mortality/aging,-	Deafness  |Decreased HDL3-C and apoA-I level in females|Increased triglyceride level in males,-	ICGC,
chr20	39507400	39507400	A	T	intergenic	MAFB,TOP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,mortality/aging	Multicentric carpotarsal osteolysis|Intellectual and developmental disabilities|Cleft lip  ,Autism	ICGC,
chr14	98355759	98355759	A	C	intergenic	LOC100129345,C14orf64	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17569767	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr5	119385350	119385350	T	G	intergenic	FAM170A,PRR16	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17612291	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr10	10613592	10613592	C	A	intergenic	LOC101928322,SFTA1P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	ICGC,
chr13	108481640	108481640	G	A	ncRNA_intronic	FAM155A-IT1	unknown	SNV	-	-	-	-	rs772372901	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr6	129078584	129078584	G	A	intergenic	PTPRK,LAMA2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	Autism,Muscular dystrophy, merosin deficient|Myopathy with sarcotubular proliferation|Schizophrenia  |Tuberculoid leprosy, association with |Muscular dystrophy, limb girdle|Muscular dystrophy, congenital 1A.|Muscular dystrophy, congenital 1A, atypical|Muscular dystrophy, congenital 1A|Laminin alpha 2 chain deficiency, partial|Cardiomyopathy, dilated, type 1A	ICGC,
chr1	236149216	236149219	TGCC	-	intronic	NID1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	OV-AU|1|93|0.01075	-	-	other phenotype	Dandy-Walker malformation and occipital cephaloceles|Altered recombination frequency	ICGC,
chr4	49163430	49163430	A	G	intergenic	CWH43,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CN|1|65|0.01538	-	-	-,-	-,-	ICGC,
chr12	85108362	85108362	T	A	intergenic	TMTC2,SLC6A15	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,reproductive system phenotype	-,Increased maximal 3H proline uptake	ICGC,
chr8	94664039	94664039	G	A	ncRNA_intronic	LINC00535	unknown	SNV	-	-	-	3.231e-05	rs753824326	-	-	-	-	COSN17218186	-	PACA-CA|1|268|0.00373	-	-	-	-	COSMIC,ICGC,
chrX	92754306	92754306	G	A	intergenic	PCDH11X,NAP1L3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Absent speech, intellectual disability & behavioural problems|Attention deficit hyperactivity disorder & obsessive compulsive disorder|Developmental dyslexia |Language delay, nonsyndromic ,-	ICGC,
chr2	213098848	213098848	CC	TT	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr1	246528315	246528315	A	G	intronic	SMYD3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	Interaction with smoking, association with|Potential protein deficiency|Various cancers, increased risk, association with	ICGC,
chr1	163868602	163868602	C	T	intergenic	LOC100422212,PBX1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Schizophrenia	ICGC,
chr1	171173372	171173372	C	T	intronic	FMO2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	FMO2 variant	ICGC,
chr4	46370865	46370865	C	G	intronic	GABRA2	unknown	SNV	-	-	-	0.0013	rs564653117	-	0.000199681	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype	-	ICGC,
chr7	84055593	84055593	C	T	intergenic	SEMA3A,LOC101927378	unknown	SNV	-	-	-	0.2827	rs2706918	-	0.414337	-	0.507	COSN24605087	-	GACA-CN|1|123|0.00813,MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Unexplained cardiac arrest, association with|Short stature & multiple congenital anomalies|Kallmann syndrome|Hirschsprung disease   |Crypt frequency in the iris, association with,-	COSMIC,ICGC,
chr7	122892222	122892222	C	T	intergenic	SLC13A1,IQUB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	skeleton phenotype,-	Schizophrenia,-	ICGC,
chr4	164014957	164014957	C	G	intergenic	FSTL5,NAF1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Schizophrenia  |Rolandic epilepsy ,-	ICGC,
chr12	17722215	17722215	A	G	intergenic	SKP1P2,MIR3974	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24678888	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	COSMIC,ICGC,
chr6	124191103	124191103	T	C	intronic	NKAIN2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21784699	-	BRCA-EU|1|569|0.00176	-	-	-	Developmental delay and recurrent infection|Various neurological abnormalities	COSMIC,ICGC,
chr7	9306508	9306508	T	G	intergenic	NXPH1,PER4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|2|301|0.00664	-	-	mortality/aging,-	Breast cancer, increased risk  ,-	ICGC,
chr6	41227438	41227438	C	T	intergenic	TREML5P,TREM1	unknown	SNV	-	-	-	3.228e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,hematopoietic system phenotype	-,-	ICGC,
chr2	10350668	10350668	C	T	exonic	C2orf48	nonsynonymous	SNV	-	-	-	-	-	-	-	-	-	COSM3797808	BLCA|1|396|0.00253	BLCA-US|1|133|0.00752	-	-	-	-	COSMIC,TCGA,ICGC,
chr1	86928392	86928392	-	CG	intergenic	CLCA2,CLCA1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	liver/biliary system phenotype,-	Leukemia, risk, association with ,Cystic fibrosis, modifier of	ICGC,
chr16	795448	795448	G	A	intergenic	NARFL,MSLN	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,normal phenotype	-,-	ICGC,
chr21	14761424	14761424	T	C	intergenic	ANKRD30BP2,MIR3156-3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	UTCA-FR|1|20|0.05000	-	-	-,-	-,-	ICGC,
chr2	237462866	237462866	C	G	intergenic	IQCA1,ACKR3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8990758	-	OV-AU|1|93|0.01075	-	-	-,-	-,-	COSMIC,ICGC,
chr9	116415595	116415595	-	ACACACACAC	intergenic	RGS3,ZNF618	unknown	insertion	-	-	-	0.0878	rs56291261	-	-	-	-	COSN27428907	-	-	-	-	-,-	-,-	COSMIC,COSMIC,COSMIC,
chr13	72275856	72275856	T	C	intronic	DACH1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	mortality/aging	Renal hypodysplasia	ICGC,
chr6	138956589	138956589	C	G	intergenic	NHSL1,FLJ46906	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24250860	-	BRCA-FR|1|72|0.01389	-	-	-,-	-,-	COSMIC,ICGC,
chr18	54174775	54174775	G	A	intergenic	LOC100505474,TXNL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,-	-,-	ICGC,
chr1	157105411	157105411	G	A	exonic	ETV3	stopgain	SNV	-	-	-	-	-	-	-	-	-	COSM5462022	-	COCA-CN|1|321|0.00312	-	-	-	-	COSMIC,COSMIC,ICGC,
chr2	104287624	104287624	C	A	intergenic	TMEM182,LOC100287010	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr10	128359783	128359783	GG	AA	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr4	136540407	136540407	T	C	intergenic	PABPC4L,LINC00613	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	Autism spectrum disorder  ,-	ICGC,
chr15	76623540	76623540	T	C	intergenic	ETFA,ISL2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,mortality/aging	Electron transfer flavoprotein deficiency|Glutaricacidaemia 2a|Glutaricaciduria 2a|Increased stability,-	ICGC,
chrX	53561496	53561496	T	C	exonic	HUWE1	nonsynonymous	SNV	0.0	1.0	-	-	-	-	-	-	-	COSM3390710	-	PACA-AU|1|391|0.00256	-	-	mortality/aging	Schizophrenia|Mental retardation, X-linked |Intellectual disability, X-linked|Intellectual disability, nonsyndromic|Intellectual disability, growth retardation, minimal speech, rigid gait & behavioural problems|Congenital heart disease |Autism	COSMIC,COSMIC,ICGC,
chr3	39692407	39692407	C	T	intergenic	MOBP,MYRIP	unknown	SNV	-	-	-	0.0062	rs771543509	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,-	-,-	ICGC,
chrX	55676035	55676035	G	A	intergenic	FOXR2,RRAGB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	191577004	191577004	G	A	intergenic	LINCR-0002,FGF12	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,behavior/neurological phenotype	-,-	ICGC,
chr19	19751134	19751134	C	T	exonic	GMIP	nonsynonymous	SNV	0.002	1.0	-	-	-	-	-	-	-	COSM6487659	-	-	-	-	-	Major depressive disorder, association with	COSMIC,
chr2	6633879	6633879	G	A	intergenic	LINC01247,LINC01246	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr14	70376191	70376191	C	T	intronic	SMOC1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Microphthalmia with limb anomalies|Waardenburg anophthalmia syndrome	ICGC,
chr6	167719436	167719436	G	A	exonic	UNC93A	nonsynonymous	SNV	0.25	0.944	0.2678	0.2616	rs2072767	0.2674	0.280351	0.2572	0.348	COSM1754650	-	COCA-CN|4|321|0.01246,LAML-KR|2|205|0.00976,LICA-CN|2|402|0.00498,BLCA-CN|1|103|0.00971,LUSC-KR|2|170|0.01176,COAD-US|1|254|0.00394	-	-	-	Autism spectrum disorder|Potential protein deficiency	COSMIC,ICGC,
chr11	81738223	81738223	G	A	ncRNA_intronic	LOC101928989	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr5	175594148	175594148	G	A	ncRNA_intronic	LOC643201	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr2	206624138	206624138	G	A	intronic	NRP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Osteoarthritis, early-onset |Autism, association with 	ICGC,
chr13	67903109	67903109	C	T	intergenic	PCDH9,LINC00550	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	62310359	62310359	T	-	intergenic	NONE,LPHN3	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	-,behavior/neurological phenotype	-,-	ICGC,
chr2	83333664	83333664	C	T	intergenic	LOC1720,FUNDC2P2	unknown	SNV	-	-	-	3.231e-05	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	ICGC,
chr4	63254005	63254005	G	A	intergenic	LPHN3-AS1,TECRL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr10	53396754	53396754	A	T	intronic	PRKG1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22206839	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging	Thoracic aortic aneurysms and dissections	COSMIC,ICGC,
chr2	79792117	79792117	C	A	intronic	CTNNA2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17361463	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Schizophrenia	COSMIC,ICGC,
chr2	56094563	56094563	A	C	intronic	EFEMP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype	Malattia leventinese	ICGC,
chr21	42302010	42302010	G	A	intergenic	DSCAM,LINC00323	unknown	SNV	-	-	-	0.3617	rs2410350	-	0.294928	-	0.399	-	-	COCA-CN|1|321|0.00312,ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	Bipolar disorder, association with ,-	ICGC,
chr19	40181472	40181472	G	A	intergenic	LGALS17A,LGALS14	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr14	83848225	83848225	T	C	intergenic	LOC101928559,LINC00911	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr16	10207308	10207308	C	T	intronic	GRIN2A	unknown	SNV	-	-	-	3.231e-05	-	-	-	-	-	COSN22153451	-	BRCA-EU|1|569|0.00176	-	-	integument phenotype	Intellectual disability  |Landau-Kleffner syndrome|Landau-Kleffner syndrome, atypical rolandic epilepsy, dysphasia, CSWS syndrome|Landau-Kleffner syndrome, verbal dyspraxia|Landau-Kleffner syndrome/benign epilepsy with centrotemporal spikes/atypical benign partial epilepsy|Mental retardation with abnormal EEG|Partial epilepsy, atypical benign|Rolandic epilepsy |Schizophrenia|Schizophrenia, chronic outcome, association with|Seizure disorders of rolandic region & intellectual disability|Increased hippocampal and amygdala volumes, association with|Epileptic encephalopathy, verbal dyspraxia|Epileptic encephalopathy, benign childhood epilepsy|Alcohol dependence, association with|Atypical rolandic epilepsy, absence epilepsy|Atypical rolandic epilepsy, verbal dyspraxia|Benign epilepsy with centrotemporal spikes|Epilepsy with cognitive impairment|Epilepsy-aphasia syndrome|Epilepsy, childhood-onset|Epileptic encephalopathy|Epileptic encephalopathy, abnormal EEG & developmental delay|Epileptic encephalopathy, atypical rolandic epilepsy, dysphasia|Epileptic encephalopathy, atypical rolandic epilepsy, verbal dyspraxia	COSMIC,ICGC,
chr7	35139301	35139301	T	G	ncRNA_intronic	DPY19L2P1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17288059	-	ESAD-UK|1|301|0.00332	-	-	-	-	COSMIC,ICGC,
chr9	27723858	27723858	G	T	intergenic	C9orf72,LINGO2	unknown	SNV	-	-	-	0.2667	rs2026146	-	0.322684	-	0.370	-	-	ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488	-	-	-,-	Frontotemporal dementia, early-onset behavioral variant.|Frontotemporal dementia/Amyotrophic lateral sclerosis.|Huntington disease phenocopy|Lund frontotemporal dementia|Multiple neurodegenerative syndromes|Multiple sclerosis-amyotrophic lateral sclerosis.|Olivopontocerebellar degeneration/atypical Parkinsonian syndrome/corticobasal syndrome.|Parkinson disease  |Schizophrenia  |Frontotemporal dementia, behavioural variant|Frontotemporal dementia with psychosis, parkinsonism, visuo-spatial dysfunction, upper motor neuron involvement.|Alzheimer disease|Alzheimer disease.|Amyotrophic lateral sclerosis|Amyotrophic lateral sclerosis / frontotemporal dementia  |Bipolar affective disorder preceding frontotemporal dementia.|Bipolar disorder  |Dementia.|Frontotemporal dementia|Frontotemporal dementia / motor neuron disease,Autism spectrum disorder  |Developmental delay with absent speech	ICGC,
chr13	95965840	95965840	T	G	intergenic	ABCC4,CLDN10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LAML-KR|1|205|0.00488	-	-	integument phenotype,behavior/neurological phenotype	Increased promoter activity|Reduced function   ,-	ICGC,
chr17	66111179	66111179	C	T	ncRNA_intronic	LINC00674	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr7	98574410	98574410	G	T	intronic	TRRAP	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging	Schizophrenia  |Li-Fraumeni syndrome with brain tumours|Autism	ICGC,
chr3	179927424	179927424	G	A	intergenic	PEX5L,TTC14	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,-	-,-	ICGC,
chr21	32193314	32193314	C	T	intergenic	KRTAP8-1,KRTAP7-1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19510788	-	-	-	-	-,-	-,-	COSMIC,
chr8	116631464	116631464	G	A	exonic	TRPS1	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM1095274	UCEC|1|248|0.00403	UCEC-US|1|250|0.00400	-	-	integument phenotype	Tricho-rhino-phalangeal syndrome with supernumerary teeth|Tricho-rhino-phalangeal syndrome III|Tricho-rhino-phalangeal syndrome I|Tricho-rhino-phalangeal syndrome|Infantile scoliosis & developmental delay|Femoral neck width, association with|Ambras syndrome	COSMIC,COSMIC,TCGA,ICGC,
chr9	87710232	87710232	G	T	intergenic	NTRK2,AGTPBP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging,vision/eye phenotype	Anxiety-related traits, association with|Obesity, hyperphagia, and developmental delay,-	ICGC,
chr20	3270242	3270242	C	T	intronic	C20orf194	unknown	SNV	-	-	-	0.2462	rs6051717	-	0.23762	-	0.283	-	-	ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488	-	-	-	-	ICGC,
chr7	110764509	110764509	G	A	exonic	LRRN3	nonsynonymous	SNV	0.423	0.0	-	3.229e-05	-	-	-	-	-	COSM3941958	-	ESCA-CN|1|332|0.00301	-	-	homeostasis/metabolism phenotype	-	COSMIC,ICGC,
chr5	166437676	166437676	T	C	intergenic	CTB-7E3.1,TENM2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	ICGC,
chr14	46702601	46702601	-	A	ncRNA_intronic	LINC00871	unknown	insertion	-	-	-	0.0002	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	-	ICGC,
chr18	29164426	29164426	T	C	intergenic	LOC100652770,TTR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,vision/eye phenotype	-,Amyloidotic vitreous opacities|Cardiomyopathy|Cardiomyopathy & late-onset polyneuropathy of lower limbs |Euthyroid hyperthyroxinaemia|Familial amyloid polyneuropathy presenting hydrocephalus.|Heart failure and cardiac involvement|Motor neuropathy|Oculoleptomeningeal amyloidosis|Oculoleptomeningeal amyloidosis.|Amyloidotic polyneuropathy.|Amyloidotic polyneuropathy|Amyloidosis|Amyloidosis, cardiac|Amyloidosis, cardiac, late-onset|Amyloidosis, cardiac.|Amyloidosis, meningocerebrovascular|Amyloidosis, modifier of|Amyloidosis, oculoleptomeningeal|Amyloidosis, transthyretin|Amyloidosis.	ICGC,
chr11	120346179	120346182	TAAG	-	exonic	ARHGEF12	frameshift	deletion	-	-	-	-	-	-	-	-	-	-	UCEC|1|248|0.00403	-	-	-	hematopoietic system phenotype	Increased insulin sensitivity, association with	TCGA,
chr20	51962714	51962714	A	G	intronic	TSHZ2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Schizophrenia	ICGC,
chr15	47000891	47000891	T	G	intergenic	SQRDL,SEMA6D	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15103194	-	ESAD-UK|1|301|0.00332	-	-	-,immune system phenotype	-,Developmental language disorder 	COSMIC,ICGC,
chr5	133791224	133791224	G	A	intergenic	LOC102546229,LOC101927934	unknown	SNV	-	-	-	0.0001	rs62381409	-	0.000199681	-	-	COSN20261134	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	COSMIC,ICGC,
chr2	87125623	87125623	G	C	intergenic	ANAPC1P1,RGPD2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17203518	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	COSMIC,ICGC,
chr20	7517350	7517350	C	T	intergenic	MIR8062,HAO1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	195705191	195705191	A	G	intergenic	LOC101927431,SLC39A10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	ICGC,
chr10	6419657	6419657	C	T	intergenic	LOC399715,PRKCQ	unknown	SNV	-	-	-	3.229e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,-	ICGC,
chr5	60840247	60840247	-	G	UTR3	ZSWIM6	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN20944171	-	-	-	-	-	-	COSMIC,
chr6	158247534	158247535	GA	-	intronic	SNX9	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr10	54480022	54480022	C	A	intergenic	LOC101928687,MBL2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	-,hematopoietic system phenotype	-,Leprosy, association with|Lung cancer survival, association with|Mannose-binding protein deficiency, association|Placental malaria, susceptibility to, association with|Systemic lupus erythematosus, association with|Tuberculosis, protection against, association with|Type 2 diabetes, association with|Ulcerative colitis, association with.|Vulvovaginal candidiasis, recurrent, association with|Lepromatous leprosy, protection against, association with|Kawasaki disease, association with|Antiphospholipid syndrome, association with|Bacterial infection, increased risk, association with|Colon cancer, association with|Crohn's disease, in children, association with|Dental caries, association with.|HIV-1 infection, increased susceptibility, association with|HIV-1 infection, susceptibility, association|Increased serum MBL level |Infection, in children, association with.	ICGC,
chr4	81891123	81891123	T	G	intergenic	C4orf22,BMP3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9243019	-	OV-AU|1|93|0.01075	-	-	-,skeleton phenotype	-,Skeletal defects, in chromosome 4q21 deletion syndrome	COSMIC,ICGC,
chr10	61170347	61170347	G	A	intergenic	FAM13C,SLC16A9	unknown	SNV	-	-	-	-	rs527333949	-	-	-	-	COSN26003883	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr20	23562052	23562052	GG	AA	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr5	130299350	130299350	C	T	intergenic	CHSY3,HINT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,cellular phenotype	-,Axonal neuropathy with neuromyotonia	ICGC,
chr8	93654970	93654970	T	A	intergenic	RUNX1T1,FLJ46284	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25252732	-	MALY-DE|1|241|0.00415	-	-	integument phenotype,-	Intellectual disability  ,-	COSMIC,ICGC,
chr2	128142733	128142733	C	G	intergenic	MAP3K2,PROC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-UK|1|141|0.00709	-	-	hematopoietic system phenotype,mortality/aging	-,Protein C deficiency, type II|Recurrent miscarriage |Reduced Protein C levels|Thrombophilia  |Venous thromboembolism|Venous thrombosis, increased risk|Protein C deficiency, type I|Protein C deficiency|Cerebral palsy|Deep vein thrombosis  |Deep vein thrombosis, in pregnancy|Foetal ischaemic brain injury|Ischemic stroke, association with|Multiple osteonecroses & venous thrombosis	ICGC,
chrX	87546390	87546390	G	A	intergenic	KLHL4,CPXCR1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr1	154318821	154318821	T	G	exonic	ATP8B2	nonsynonymous	SNV	0.022	1.0	-	-	-	-	-	-	-	COSM346541	-	-	-	-	-	-	COSMIC,
chr4	92988444	92988444	G	T	intergenic	CCSER1,GRID2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,mortality/aging	-,Cerebellar ataxia & tonic upgaze|Cerebellar ataxia and atrophy|Schizophrenia|Spastic paraplegia, complicated	ICGC,
chr1	225450236	225450236	A	G	intronic	DNAH14	unknown	SNV	-	-	-	0.2040	rs598469	-	0.252396	-	0.297	-	-	ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488,SKCA-BR|1|100|0.01000	-	-	-	Potential protein deficiency	ICGC,
chr7	142369823	142369823	T	C	intergenic	TRY2P,MTRNR2L6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr4	68983250	68983250	G	T	intronic	TMPRSS11F	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	-	-	ICGC,
chr3	75051709	75051709	G	A	intergenic	CNTN3,MIR4444-1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr2	181726279	181726279	G	C	ncRNA_intronic	SCHLAP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-	-	ICGC,
chr1	197261342	197261342	G	A	intronic	CRB1	unknown	SNV	-	-	-	3.24e-05	rs538356779	-	0.000399361	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging	Retinitis pigmentosa, autosomal recessive.|Retinitis pigmentosa, early-onset|Retinitis pigmentosa, early-onset / leber congenital amaurosis|Retinitis pigmentosa, early-onset & Coats|Retinitis pigmentosa, nanophthalmos & optic disc drusen|Retinitis pigmentosa.|Rod-cone / cone-rod dystrophy / leber congenital amaurosis|Rod-cone / cone-rod dystrophy, early onset|Rod-cone dystrophy, early-onset|Rod-cone dystrophy, early-onset / retinitis pigmentosa|Rod-cone dystrophy, early-onset & retinal telangiectasia|Stargardt disease|Retinitis pigmentosa, autosomal recessive ?|Retinitis pigmentosa, autosomal recessive|Retinitis pigmentosa 12|Cone-rod dystrophy, early-onset |Cone-rod dystrophy.|Leber congenital amaurosis|Pigmented paravenous chorioretinal atrophy|Retinal dystrophy |Retinal dystrophy, early-onset|Retinitis pigmentosa|Retinitis pigmentosa / cone-rod degeneration|Retinitis pigmentosa / leber congenital amaurosis|Retinitis pigmentosa & nanophthalmos|Retinitis pigmentosa & retinal telangiectasia|Cone-rod dystrophy & retinal telangiectasia	ICGC,
chr17	39456446	39456446	C	A	intergenic	KRTAP9-7,KRTAP29-1	unknown	SNV	-	-	-	3.23e-05	-	-	-	-	-	COSN8836527	-	OV-AU|1|93|0.01075	-	-	-,-	-,-	COSMIC,ICGC,
chr4	43985557	43985557	-	AAGG	intergenic	GRXCR1,KCTD8	unknown	insertion	-	-	-	0.0363	rs201401473	-	0.0772764	-	-	COSN27394525	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,-	Hearing impairment, nonsyndromic, autosomal recessive,-	COSMIC,COSMIC,ICGC,
chr12	7692363	7692363	A	T	intergenic	CD163,APOBEC1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16610165	-	PACA-CA|1|268|0.00373	-	-	-,mortality/aging	Schizophrenia,-	COSMIC,ICGC,
chr21	10842120	10842120	G	T	intergenic	TEKT4P2,TPTE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Potential protein deficiency	ICGC,
chr18	5926102	5926102	G	A	intergenic	TMEM200C,L3MBTL4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr11	37945523	37945523	T	G	intergenic	C11orf74,LOC103312105	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8535366	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	COSMIC,ICGC,
chr2	138427506	138427506	A	G	intronic	THSD7B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	Autism spectrum disorder	ICGC,
chr4	96868344	96868344	G	A	intergenic	PDHA2,STPG2-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	ICGC,
chr4	131729412	131729412	A	T	intergenic	LOC101927282,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9902451	-	RECA-EU|1|422|0.00237	-	-	-,-	-,-	COSMIC,ICGC,
chr5	45113662	45113662	G	A	intergenic	MRPS30,HCN1	unknown	SNV	-	-	-	6.46e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Idiopathic epilepsy, generalised 	ICGC,
chr1	150200740	150200740	G	A	intronic	ANP32E	unknown	SNV	-	-	-	-	rs587767273	-	0.000199681	-	-	COSN15915027	-	PACA-CA|1|268|0.00373	-	-	mortality/aging	-	COSMIC,ICGC,
chr4	20505803	20505803	T	C	intronic	SLIT2	unknown	SNV	-	-	-	0.0051	rs3775810	-	0.0213658	-	0.014	-	-	LAML-KR|1|205|0.00488	-	-	mortality/aging	Schizophrenia  	ICGC,
chr4	107176060	107176060	A	G	intronic	TBCK	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr16	35141212	35141212	A	G	intergenic	FLJ26245,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chrX	88650032	88650032	G	A	intergenic	CPXCR1,TGIF2LX	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr11	111094834	111094834	C	T	intergenic	ARHGAP20,C11orf53	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr11	65775969	65775969	C	A	intergenic	BANF1,CST6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,integument phenotype	Progeroid syndrome,-	ICGC,
chr10	1458820	1458820	T	A	intronic	ADARB2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr1	36673590	36673590	C	T	intergenic	MAP7D1,THRAP3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Schizophrenia	ICGC,
chr20	8840469	8840469	G	A	intronic	PLCB1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Wolff-Parkinson-White syndrome|Schizophrenia  |Malignant migrating partial seizures in infancy|Epileptic encephalopathy, severe infantile|Epileptic encephalopathy, early onset|Atrioventricular septal defects	ICGC,
chr5	27912218	27912218	C	T	intergenic	LINC01021,LSP1P3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|2|100|0.02000,MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr16	12416708	12416708	G	A	intronic	SNX29	unknown	SNV	-	-	-	0.1639	rs209842	-	-	-	0.014	COSN17988185	-	COCA-CN|1|321|0.00312,LAML-KR|2|205|0.00976,SKCA-BR|7|100|0.07000,LUSC-KR|1|170|0.00588	-	-	-	-	COSMIC,COSMIC,COSMIC,COSMIC,COSMIC,ICGC,
chr8	139477341	139477341	G	A	intronic	FAM135B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chrX	8504029	8504029	G	A	intronic	KAL1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25429432	-	MALY-DE|1|241|0.00415	-	-	-	Septo-optic dysplasia  |Kallmann syndrome, reversible|Kallmann syndrome and ichthyosis|Kallmann syndrome|Hypothalamic amenorrhea |Hypogonadotropic hypogonadism, idiopathic|Hypogonadotrophic hypogonadism, idiopathic|GnRH deficiency |Chondrodysplasia punctata|Autism spectrum disorder	COSMIC,ICGC,
chr5	108634175	108634175	G	A	intergenic	FER,PJA2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	normal phenotype,-	-,-	ICGC,
chr2	189831997	189831997	C	T	intergenic	DIRC1,COL3A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	-,Ehlers-Danlos syndrome, vascular-type|Intracranial aneurysm, association with  |Pelvic organ prolapse, association with|Potential protein deficiency|Thoracic aortic aneurysms and dissections|Ehlers-Danlos syndrome IV, vascular-type|Ehlers-Danlos syndrome IV|Ehlers-Danlos syndrome III|Ehlers-Danlos syndrome|Ehlers-Danlos IV with features of EDS I/II & muscle hypertrophy|Aortic aneurysm |Acrogeria, Gottron	ICGC,
chr15	86617554	86617554	C	T	intergenic	KLHL25,LOC101929701	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr5	28160155	28160155	C	T	intergenic	LINC01021,LSP1P3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr6	162018614	162018614	T	G	intronic	PARK2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype	Parkinson disease, decreased risk|Parkinson disease, early-onset|Parkinson disease, early-onset.|Parkinson disease, familial|Parkinson disease, familial, association with |Parkinson disease, idiopathic|Parkinson disease, in heterozygosity, association|Parkinson disease, late-onset|Parkinson disease, sporadic, reduced risk|Parkinson disease.|Parkinsonism, juvenile, autosomal recessive|Parkinsonism, late-onset, association with|Rolandic epilepsy |Parkinson disease, autosomal recessive|Parkinson disease, association with|Parkinson disease with resting leg tremor|Attention deficit hyperactivity disorder |Autism spectrum disorder|Cervical artery dissection|Dementia with Lewy bodies|Developmental delay  |Dystonia, dopa-responsive|Leprosy, association with|Lewy bodies|Lung adenocarcinoma   |Multiple system atrophy, cerebellar subtype|Parkinson disease|Parkinson disease with dementia.|Parkinson disease with Lewy bodies	ICGC,
chr1	3724963	3724963	C	A	intergenic	LRRC47,CEP104	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr8	2683793	2683793	C	T	intergenic	MYOM2,CSMD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Schizophrenia, association with |Hyperinsulinism|Autism|Attention deficit hyperactivity disorder 	ICGC,
chrX	26821437	26821437	G	A	intergenic	VENTXP1,SMEK3P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr8	79668479	79668479	G	A	intronic	IL7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype	Increased expression	ICGC,
chr13	112095609	112095609	-	GTGG	intergenic	TEX29,LINC00354	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr13	113543499	113543499	C	T	intergenic	ATP11A,MCF2L-AS1	unknown	SNV	-	-	-	0.4389	rs1278772	-	0.460064	-	0.536	-	-	COCA-CN|1|321|0.00312	-	-	-,-	-,-	ICGC,
chr6	4277048	4277048	C	T	intergenic	LOC100507506,KU-MEL-3	unknown	SNV	-	-	-	3.231e-05	-	-	-	-	-	COSN14952368	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chrX	38734441	38734441	-	TA	intergenic	MID1IP1,LINC01281	unknown	insertion	-	-	-	0.1761	rs370943898	-	-	-	-	-	-	ESAD-UK|2|301|0.00664	-	-	-,-	-,-	ICGC,
chr1	173839605	173839605	A	G	exonic	ZBTB37	nonsynonymous	SNV	0.001	0.997	-	-	-	-	-	-	-	-	HNSC|1|512|0.00195	-	-	-	-	-	TCGA,
chr13	100809551	100809551	G	A	exonic	PCCA	nonsynonymous	SNV	0.0	1.0	-	-	rs796052019	-	-	-	-	-	-	-	Propionic_acidemia|not_provided	-	integument phenotype	Propionic acidaemia	ClinVar,
chr21	22049554	22049554	T	A	intergenic	LOC101927797,LINC00320	unknown	SNV	-	-	-	0.0660	rs12482171	-	0.081869	-	0.051	-	-	LAML-KR|1|205|0.00488	-	-	-,-	-,-	ICGC,
chr1	182882665	182882665	C	T	intronic	SHCBP1L	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr2	126292174	126292174	A	G	intergenic	CNTNAP5,GYPC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	Autism,Glycophorin C variant|Gerbich-negative blood group|Elliptocytosis|Duch blood group	ICGC,
chr6	95142276	95142276	A	T	intergenic	TSG1,MANEA-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr6	9801210	9801210	C	T	intergenic	LOC100506207,TFAP2A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,integument phenotype	-,Schizophrenia, episodic, association |Orofacial clefting |Developmental delay/intellectual disability and nasolacrimal duct obstruction|Cisplatin resistance|Branchio-oculo-facial syndrome with thyroglossal duct cyst|Branchio-oculo-facial syndrome	ICGC,
chr16	24644856	24644856	C	T	intergenic	RBBP6,LOC400511	unknown	SNV	-	-	-	0.6640	rs9939647	-	0.675919	-	0.725	-	-	LAML-KR|1|205|0.00488	-	-	mortality/aging,-	-,-	ICGC,
chr7	84948756	84948756	C	T	intergenic	SEMA3D,GRM3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,behavior/neurological phenotype	Total anomalous pulmonary venous connection|Tetralogy of Fallot|Hirschsprung disease   ,Schizophrenia, association with|Major depressive disorder, association with	ICGC,
chr12	131292855	131292855	T	-	intronic	STX2	unknown	deletion	-	-	-	0.0028	rs796303992	-	-	-	-	-	-	ESAD-UK|1|301|0.00332,BRCA-EU|1|569|0.00176,LIRI-JP|1|258|0.00388	-	-	hematopoietic system phenotype	-	ICGC,
chr16	51152162	51152162	C	A	intergenic	LOC101927334,SALL1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1187580	-	LINC-JP|1|394|0.00254	-	-	-,mortality/aging	-,Townes-Brocks syndrome|Renal hypodysplasia|Multiple congenital anomalies, CNS defects, cortical blindness, and absence of psychomotor development|Lenz microphthalmia syndrome|Goldenhar syndrome 	COSMIC,ICGC,
chr16	29888214	29888214	G	T	exonic	SEZ6L2	nonsynonymous	SNV	0.008	0.994	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	behavior/neurological phenotype	Autism, association with	ICGC,
chr15	57062995	57062995	C	T	intergenic	ZNF280D,LOC145783	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr1	109220634	109220634	T	A	intergenic	HENMT1,PRPF38B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27883500	-	PRAD-CA|1|308|0.00325	-	-	-,-	-,-	COSMIC,ICGC,
chr3	6848876	6848876	C	A	intergenic	LOC101927347,GRM7	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25997315	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,Schizophrenia, association with  |Autism |Attention deficit hyperactivity disorder	COSMIC,ICGC,
chr6	78999108	78999108	A	T	intergenic	MEI4,IRAK1BP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,no phenotypic analysis	-,-	ICGC,
chr11	89459763	89459763	A	G	intergenic	TRIM77,TRIM49	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr9	102996837	102996837	G	A	intronic	INVS	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19223179	-	CLLE-ES|1|510|0.00196	-	-	mortality/aging	Situs inversus with cardiac defects|Nephronophthisis-related ciliopathy|Nephronophthisis 2|Nephronophthisis & ciliary dysgenesis	COSMIC,ICGC,
chr9	86356861	86356861	G	T	intronic	GKAP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr2	125384687	125384687	A	T	intronic	CNTNAP5	unknown	SNV	-	-	-	0.0027	rs187025688	-	0.00139776	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-	Autism	ICGC,
chr12	49178447	49178447	-	T	intronic	ADCY6	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	behavior/neurological phenotype	Decreased adenylyl cyclase activity|Cardiac hypertrophy, risk, association with|Arthrogryposis multiplex congenita with axoglial defects	ICGC,
chr7	64489575	64489575	T	C	intergenic	ERV3-1,CCT6P3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	ICGC,
chr2	81522201	81522201	A	T	intergenic	CTNNA2,LOC100507201	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15756322	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging,-	Schizophrenia,-	COSMIC,ICGC,
chr4	162376754	162376754	C	T	intronic	FSTL5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	Schizophrenia  |Rolandic epilepsy 	ICGC,
chr4	115267018	115267018	C	T	intergenic	ARSJ,UGT8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,mortality/aging	-,Musical ability, association with	ICGC,
chr2	56017776	56017776	T	G	intergenic	PNPT1,EFEMP1	unknown	SNV	-	-	-	0.0015	rs547517983	-	0.000998403	-	-	COSN21111081	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging,integument phenotype	Hearing loss  |Respiratory chain deficiency ,Malattia leventinese	COSMIC,ICGC,
chr2	86478842	86478842	A	C	intronic	REEP1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25422247	-	MALY-DE|1|241|0.00415	-	-	-	Spastic paraplegia 31|Spastic paraplegia  |Peripheral neuropathy|Neuropathy, hereditary sensory, type V	COSMIC,ICGC,
chr14	67784163	67784163	A	-	exonic	MPP5	frameshift	deletion	-	-	-	-	-	-	-	-	-	COSM2249019	-	-	-	-	integument phenotype	-	COSMIC,
chr12	42361701	42361701	C	T	intergenic	PDZRN4,GXYLT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr15	29783984	29783984	C	A	intronic	FAM189A1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17861597	-	ESAD-UK|1|301|0.00332	-	-	-	-	COSMIC,ICGC,
chr12	43194429	43194429	T	A	intergenic	LOC101927058,ADAMTS20	unknown	SNV	-	-	-	3.23e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,-	ICGC,
chr4	35238989	35238989	-	ACACAC	intergenic	NONE,ARAP2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chrX	142676112	142676112	G	A	intergenic	SPANXN3,SLITRK4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr6	132279647	132279647	C	A	intergenic	CTGF,LINC01013	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	integument phenotype,-	Hepatic fibrosis, association with|Nephropathy, in type 1 diabetes, association with|Systemic sclerosis, association with,-	ICGC,
chr4	100942441	100942441	-	TTGT	intergenic	LOC256880,DDIT4L	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,Potential protein deficiency	ICGC,
chr1	185603843	185603843	A	G	intergenic	LINC01350,HMCN1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21612694	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,Macular degeneration, age related|Stargardt disease 	COSMIC,ICGC,
chr4	3432599	3432599	G	T	exonic	RGS12	nonsynonymous	SNV	0.004	0.998	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	Goitre  	ICGC,
chr6	72960004	72960004	C	A	intronic	RIMS1	unknown	SNV	-	-	9.408e-06	-	-	-	-	-	-	-	-	GACA-JP|1|585|0.00171	-	-	mortality/aging	Autism|Cone-rod dystrophy|Retinitis pigmentosa, autosomal dominant	ICGC,
chr9	122131983	122131983	A	G	upstream	BRINP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-JP|1|585|0.00171	-	-	-	-	ICGC,
chr20	48426446	48426447	AA	-	intergenic	B4GALT5,SLC9A8	unknown	deletion	-	-	-	0.2408	rs796895044	-	-	-	-	-	-	LICA-CN|2|402|0.00498	-	-	mortality/aging,vision/eye phenotype	-,-	ICGC,
chr17	13800386	13800386	-	TTATTTATTTATTTATTTAT	intergenic	HS3ST3A1,CDRT15P1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr7	21405706	21405706	A	G	intergenic	RPL23P8,SP4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,mortality/aging	-,-	ICGC,
chr8	5445796	5445796	G	T	intergenic	CSMD1,LOC100287015	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	Schizophrenia, association with |Hyperinsulinism|Autism|Attention deficit hyperactivity disorder ,-	ICGC,
chr15	88912044	88912044	C	T	intergenic	NTRK3-AS1,MRPL46	unknown	SNV	-	-	-	3.278e-05	-	-	-	-	-	COSN7253065	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	COSMIC,ICGC,
chr3	17027417	17027417	G	A	intronic	PLCL2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype	-	ICGC,
chr20	57366990	57366990	G	C	intergenic	STX16-NPEPL1,MIR296	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16689354	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	COSMIC,ICGC,
chr8	126953114	126953114	T	-	ncRNA_intronic	LINC00861	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr2	697807	697807	G	T	intergenic	TMEM18,LINC01115	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-JP|1|585|0.00171	-	-	-,-	Obesity  ,-	ICGC,
chr12	53552829	53552829	C	T	intronic	CSAD	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr11	11929029	11929029	A	G	intronic	USP47	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15705213	-	LIRI-JP|1|258|0.00388	-	-	cellular phenotype	-	COSMIC,ICGC,
chr7	66532906	66532906	C	-	intronic	TYW1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr4	9892274	9892274	C	T	exonic	SLC2A9	nonsynonymous	SNV	0.071	0.372	4.063e-06	-	rs775383042	8.266e-06	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Gout, association with|Renal hypouricaemia|Renal hypouricaemia with exercise-induced acute renal failure	ICGC,
chr8	110757809	110757809	G	T	intergenic	SYBU,KCNV1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	RECA-EU|1|422|0.00237	-	-	-,behavior/neurological phenotype	-,-	ICGC,
chr5	101258701	101258701	T	A	intergenic	ST8SIA4,SLCO4C1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	-,-	ICGC,
chr3	190889650	190889650	C	T	intergenic	SNAR-I,OSTN	unknown	SNV	-	-	-	3.409e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr10	27750868	27750868	C	T	intergenic	PTCHD3,RAB18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,no phenotypic analysis	Potential protein deficiency|Null allele|Colorectal cancer?|Colorectal cancer|Autism spectrum disorder,Warburg Micro syndrome	ICGC,
chr2	4487280	4487280	C	A	intergenic	LINC01304,LINC01249	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	-,-	ICGC,
chr19	58479398	58479398	-	CAAAAG	intronic	C19orf18	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	-	ICGC,
chr2	195866309	195866309	G	A	intergenic	LOC101927431,SLC39A10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr16	27075816	27075816	C	T	intergenic	HS3ST4,C16orf82	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr6	102591824	102591824	T	G	intergenic	GRIK2,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,-	Mental retardation, non-syndromic, autosomal recessive,-	ICGC,
chr3	2954718	2954718	C	T	intronic	CNTN4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	nervous system phenotype	Spinocerebellar ataxia 16 |Features of 3p deletion syndrome|Autism spectrum disorder |Autism	ICGC,
chr4	16393257	16393257	C	T	intergenic	TAPT1-AS1,LDB2	unknown	SNV	-	-	-	3.231e-05	-	-	-	-	-	COSN19423616	-	-	-	-	-,normal phenotype	-,-	COSMIC,
chr4	86174915	86174915	G	A	intergenic	WDFY3-AS2,ARHGAP24	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,Autism spectrum disorder|Focal segmental glomerulosclerosis 	ICGC,
chr4	48100499	48100499	G	A	intronic	TXK	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype	-	ICGC,
chr14	42152201	42152201	A	T	intronic	LRFN5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22355160	-	BRCA-EU|1|569|0.00176	-	-	-	Short stature|Developmental delay, seizures & learning problems 	COSMIC,ICGC,
chr6	12318367	12318367	G	C	intergenic	EDN1,RNU6-48P	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21474831	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging,-	Variant angina, association with|Orthostatic intolerance protection|Obstructive sleep apnea|Not associated with hypertension or orthostatic hypotension|Isolated question-mark ears|Hypertension |Higher endothelin-1 levels, association with|Higher blood pressure in overweight people, association|Elevated mRNA levels|Auriculocondylar syndrome|Acute coronary syndrome, association with,-	COSMIC,ICGC,
chr4	13095324	13095324	G	A	intergenic	HS3ST1,RAB28	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,-	-,Breast cancer risk, association with |Cone-rod dystrophy, autosomal recessive	ICGC,
chr1	36784539	36784539	-	CAATAATAA	intronic	SH3D21	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	-	ICGC,
chr5	149816096	149816096	C	T	intergenic	CD74,RPS14	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22218476	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging,-	-,-	COSMIC,ICGC,
chr10	1878954	1878954	C	A	intergenic	ADARB2,LINC00700	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15808102	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr8	63604302	63604302	T	A	intronic	NKAIN3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Dravet syndrome   	ICGC,
chr2	113017195	113017195	G	A	intergenic	ZC3H8,ZC3H6	unknown	SNV	-	-	-	3.228e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Schizophrenia	ICGC,
chr11	1811107	1811107	G	A	intergenic	CTSD,SYT8	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5902461	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging,-	Neuronal ceroid lipofuscinosis, late infantile|Neuronal ceroid lipofuscinosis  |Intelligence, association with|Creutzfeldt-Jakob disease|Cathepsin D deficiency|Alzheimer disease, association with|Alzheimer disease,  in males, association with,-	COSMIC,ICGC,
chr21	39489643	39489643	G	A	intronic	DSCR4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr1	149993060	149993060	A	G	intergenic	OTUD7B,VPS45	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	behavior/neurological phenotype,-	-,Neutropaenia, neutrophil dysfunction, bone marrow fibrosis & nephromegaly|Neutropaenia, thrombasthenia & myelofibrosis of infancy	ICGC,
chr14	62900573	62900573	C	T	intergenic	LINC00644,KCNH5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,behavior/neurological phenotype	-,Epileptic encephalopathy 	ICGC,
chr5	112385705	112385705	C	T	intronic	MCC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	normal phenotype	-	ICGC,
chr1	166675159	166675159	G	T	intergenic	FMO9P,POGK	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	ICGC,
chr19	34403958	34403958	G	C	intergenic	KCTD15,LSM14A	unknown	SNV	-	-	-	0.1234	rs77222312	-	0.116014	-	0.080	-	-	ESAD-UK|2|301|0.00664	-	-	-,-	-,-	ICGC,
chrX	22010747	22010747	G	A	exonic	SMS	synonymous	SNV	-	-	8.406e-05	0.0003	rs150564614	0.0001	0.000264901	0.0003	-	-	-	-	not_specified	-	hematopoietic system phenotype	Mental retardation, X-linked|Snyder-Robinson syndrome	ClinVar,
chr2	79092201	79092201	T	G	intergenic	LOC101927967,REG3G	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr2	14837999	14837999	A	C	intergenic	LOC653602,NBAS	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,Short stature, optic atrophy & Pelger-Huet 	ICGC,
chr2	77028261	77028261	C	T	intronic	LRRTM4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr2	218256655	218256655	C	T	ncRNA_intronic	DIRC3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Renal cell cancer	ICGC,
chr10	125985742	125985742	G	A	intergenic	CHST15,OAT	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6945162	-	PACA-AU|1|391|0.00256	-	-	hematopoietic system phenotype,mortality/aging	-,Gyrate atrophy	COSMIC,ICGC,
chr9	91292041	91292041	C	T	intergenic	LOC286238,MIR4289	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr6	11851396	11851396	T	C	intergenic	ADTRP,HIVEP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,Schizophrenia  	ICGC,
chr7	114540257	114540257	C	A	intergenic	FOXP2,MDFIC	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17556991	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	Verbal dyspraxia, dysmorphism and developmental delay|Verbal apraxia & dysarthria|Verbal apraxia|Speech impairment, developmental delay & congenital anomalies|Speech disorder, global development & psychomotor delay|Mental retardation, dysmorphia and language delay|Left opercular polymicrogyria|Dyspraxia and language delay|Developmental verbal dyspraxia|Childhood apraxia of speech|Autism spectrum disorder ,-	COSMIC,ICGC,
chr9	21278674	21278674	T	G	upstream	IFNA22P	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20850210	-	BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chrX	107838798	107838798	C	T	exonic	COL4A5	stopgain	SNV	-	-	-	-	-	-	-	-	-	COSM1730780	-	LICA-CN|1|402|0.00249	-	-	mortality/aging	Microhaematuria and thin basement membrane nephropathy.|Glomerulopathy, X-linked|Deafness  |Collagen IV nephropathy|Benign haematuria|Alport syndrome, X-linked|Alport syndrome, oesophageal leiomyomatosis|Alport syndrome, diffuse leiomyomatosis|Alport syndrome	COSMIC,ICGC,
chr5	16186672	16186672	C	G	intergenic	MARCH11,LOC101929505	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21549942	-	BRCA-UK|1|141|0.00709,BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr17	30348741	30348741	G	A	exonic	LRRC37B	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM4552956	-	-	-	-	-	-	COSMIC,
chr6	145315611	145315611	T	G	intergenic	UTRN,EPM2A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,mortality/aging	Arthrogryposis |Schizophrenia,Myoclonic epilepsy of Lafora|Epilepsy, progressive myoclonus	ICGC,
chr1	152325242	152325242	G	T	exonic	FLG2	nonsynonymous	SNV	0.012	0.608	-	-	-	-	-	-	-	COSM6121229	LUAD|1|543|0.00184	-	-	-	-	Potential protein deficiency	COSMIC,TCGA,
chr19	3659722	3659722	-	G	intronic	PIP5K1C	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging	Contracture syndrome type 3	ICGC,
chr10	67297378	67297378	A	G	intergenic	ANXA2P3,LOC101928913	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-,-	-,-	ICGC,
chr10	130952068	130952068	T	C	intergenic	LINC01163,MGMT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,MGMT methylation in malignant pleural mesothelioma, association with|Non-Hodgkin lymphoma, increased risk|Pancreatic cancer, increased risk, association with|Promoter methylation and longer survival in glioblastoma patients, association with|Promoter methylation in colorectal cancer |MGMT methylation in lung cancer, increased risk, association with|MGMT methylation in colorectal cancer, association with|Lung cancer, risk, association with|Glioblastoma, reduced risk, association with |Endometrial cancer risk, association with|Cervical carcinoma, increased risk, association with|Cancer, increased risk|Altered enzyme activity	ICGC,
chr11	66560982	66560982	T	C	intronic	C11orf80	unknown	SNV	-	-	-	0.2439	rs4576826	-	0.201478	-	0.167	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr6	4374493	4374493	T	G	intergenic	LOC100507506,KU-MEL-3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr8	87984008	87984008	C	T	intronic	CNBD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr18	4612966	4612966	C	T	intergenic	DLGAP1,C18orf42	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Schizophrenia  ,-	ICGC,
chr12	103367894	103367894	C	T	intergenic	ASCL1,C12orf42	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Central hypoventilation syndrome|Intellectual disability  |Parkinson disease, protection against ,-	ICGC,
chr7	21408681	21408681	C	T	intergenic	RPL23P8,SP4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538,MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,-	ICGC,
chr5	19015624	19015624	G	A	intergenic	LOC401177,CDH18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-,-	-,Anorectal malformation	ICGC,
chr1	208963870	208963870	-	T	intergenic	PLXNA2,MIR205HG	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408,PBCA-US|1|186|0.00538	-	-	vision/eye phenotype,-	Tetralogy of Fallot,-	ICGC,
chr7	15913843	15913843	A	C	intergenic	MEOX2-AS1,ISPD	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332,MALY-DE|1|241|0.00415	-	-	-,-	-,Walker-Warburg syndrome / muscle-eye-brain disease|Walker-Warburg syndrome|Muscular dystrophy, limb girdle with mental retardation|Muscular dystrophy, limb girdle with cerebellar involvement|Muscular dystrophy, limb girdle|Muscular dystrophy, congenital|Muscle-eye-brain disease|Cobblestone lissencephaly	ICGC,
chr20	57367651	57367651	G	A	intergenic	STX16-NPEPL1,MIR296	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	ICGC,
chr8	74594029	74594032	CAAA	-	intronic	STAU2	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-	-	ICGC,
chrX	64717038	64717038	G	T	exonic	ZC3H12B	nonsynonymous	SNV	0.0	1.0	-	4.697e-05	-	-	-	-	-	COSM4972933	-	ESCA-CN|1|332|0.00301	-	-	-	Autism spectrum disorder	COSMIC,COSMIC,ICGC,
chr11	39220340	39220340	C	T	intergenic	LOC101928536,LRRC4C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr10	61310702	61310702	G	C	intergenic	FAM13C,SLC16A9	unknown	SNV	-	-	-	0.1069	rs77586109	-	0.123602	-	0.094	-	-	ESAD-UK|2|301|0.00664	-	-	-,-	-,-	ICGC,
chr20	12351970	12351970	T	G	intergenic	BTBD3,LOC101929486	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr8	13577348	13577348	G	A	intergenic	C8orf48,SGCZ	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17517998	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,Cervical artery dissection	COSMIC,ICGC,
chrX	141320543	141320543	G	A	intergenic	MAGEC2,SPANXN4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr13	104503272	104503272	C	T	intergenic	MIR548AS,DAOA-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|3|183|0.01639	-	-	-,-	-,-	ICGC,
chr5	106172608	106172608	T	G	ncRNA_intronic	LOC102467213	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-	-	ICGC,
chr4	79158766	79158766	G	C	exonic	FRAS1	nonsynonymous	SNV	0.306	0.366	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	integument phenotype	Renal agenesis |Fraser syndrome/Ablepharon macrostomia syndrome|Fraser syndrome	ICGC,
chr1	167659472	167659472	C	T	intronic	RCSD1	unknown	SNV	-	-	-	0.0005	rs537570206	-	0.000599042	-	-	COSN9365620	-	RECA-EU|1|422|0.00237	-	-	-	-	COSMIC,ICGC,
chr14	88921128	88921128	G	T	intergenic	SPATA7,PTPN21	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	Leber congenital amaurosis|Leber congenital amaurosis ?|Leber congenital amaurosis & early-onset retinal dystrophy|Leber congenital amaurosis IV|Retiniitis pigmentosa, juvenile|Retinitis pigmentosa,Graves' disease, age of onset, association with|Schizophrenia, reduced risk, association with 	ICGC,
chr4	180836758	180836758	C	A	intergenic	LINC01098,LINC00290	unknown	SNV	-	-	-	0.3306	rs12649049	-	0.291534	-	0.246	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr13	45345604	45345604	C	T	intergenic	TSC22D1-AS1,LINC00330	unknown	SNV	-	-	-	-	rs183808742	-	0.000199681	-	-	COSN14586334	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	COSMIC,ICGC,
chr4	172853871	172853871	G	A	intronic	GALNTL6	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9016897	-	OV-AU|1|93|0.01075	-	-	-	-	COSMIC,ICGC,
chr17	69168046	69168046	C	T	ncRNA_intronic	CASC17	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	-	ICGC,
chr20	7227860	7227860	T	A	ncRNA_intronic	LINC01428	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr1	94506793	94506793	T	C	exonic	ABCA4	nonsynonymous	SNV	1.0	0.0	-	-	-	-	-	-	-	-	HNSC|1|512|0.00195	-	-	-	vision/eye phenotype	Retinitis pigmentosa, autosomal dominant|Retinitis pigmentosa, autosomal dominant ?|Retinitis pigmentosa, autosomal recessive|Retinitis pigmentosa, autosomal recessive ?|Retinitis pigmentosa, autosomal recessive.|Retinitis pigmentosa-like dystrophy|Retinitis pigmentosa|Retinal dystrophy |Retinal disease |Retinal degeneration|PRPH2-associated macular dystrophy modifier|Potential protein deficiency|Retinitis pigmentosa, X-linked.|Retinitis pigmentosa?|Usher syndrome|Stargardt disease.|Stargardt disease, reduced risk|Stargardt disease, late-onset|Stargardt disease, association with|Stargardt disease and macular degeneration|Stargardt disease 2/3|Stargardt disease 1|Stargardt disease / cone-rod dystrophy|Stargardt disease|Retinopathy  |Retinitis pigmentosa.|Maculopathy, atypical|Bilateral choroidal neovascularization.|Cone-rod dystrophy with extensive atrophy|Cone-rod dystrophy|Cone-rod degeneration |Cone rod dystrophy|Cone dystrophy, autosomal recessive|Cone dystrophy / cone-rod dystrophy, autosomal recessive|Cone dystrophy|Chorioretinal atrophy|Choriocapillaris dystrophy, generalised|Bull's eye maculopathy.|Bull's eye maculopathy|Cone-rod dystrophy, autosomal recessive|Cone-rod dystrophy?|Cone-rod dystrophy.|Macular dystrophy.|Macular dystrophy, early-onset|Macular dystrophy, concentric annular|Macular dystrophy|Macular degeneration, age-related, reduced risk|Macular degeneration, age-related, association with|Macular degeneration, age related|Leber congenital amaurosis/Retinitis pigmentosa, autosomal recessive ?|Leber congenital amaurosis ?|Leber congenital amaurosis|Fundus flavimaculatus, late onset|Fundus flavimaculatus	TCGA,
chr4	116260957	116260957	C	G	intergenic	NDST4,MIR1973	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr7	69124372	69124372	T	A	intronic	AUTS2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	-	Speech & language disorder, tonic-clonic movements & pes planus|Myoclonic epilepsy, juvenile |Mental retardation|Intellectual disability, syndromic  |Epilepsy, nonlesional |Developmental delay, intellectual disability, short stature, ptosis & dysmorphism|Developmental delay  |Autism spectrum disorder  |Autism	ICGC,
chr5	33781793	33781793	T	-	intronic	ADAMTS12	unknown	deletion	-	-	-	0.0583	rs147183333	-	0.0640974	-	-	-	-	COCA-CN|1|321|0.00312	-	-	cardiovascular system phenotype	-	ICGC,
chr3	140388222	140388222	C	T	intergenic	CLSTN2,TRIM42	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Improved memory performance, association with,-	ICGC,
chr3	11869009	11869009	C	A	intronic	TAMM41	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr17	50332847	50332847	C	T	intergenic	CA10,C17orf112	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Schizophrenia,-	ICGC,
chr6	38312841	38312841	T	C	exonic	BTBD9	nonsynonymous	SNV	0.014	0.947	-	-	-	-	-	-	-	COSM3626442	SKCM|1|368|0.00272	SKCM-US|1|335|0.00299	-	-	behavior/neurological phenotype	Periodic limb movements in sleep, association 	COSMIC,COSMIC,TCGA,ICGC,
chr13	101668896	101668896	C	A	ncRNA_intronic	NALCN-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr4	37734211	37734211	C	G	intergenic	RELL1,PGM2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,normal phenotype	-,Potential protein deficiency	ICGC,
chr13	83699871	83699871	A	C	intergenic	NONE,SLITRK1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,mortality/aging	-,Trichotillomania|Tourette syndrome|Obsessive-compulsive disorder |Attention deficit hyperactivity disorder 	ICGC,
chr1	112648896	112648896	C	T	intergenic	LOC643355,CTTNBP2NL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr1	21870732	21870732	GG	AA	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr5	110496364	110496364	-	A	intergenic	WDR36,CAMK4	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging,integument phenotype	Glaucoma, high tension |Glaucoma, primary open angle|Glaucoma, primary open angle, association with ,Azoospermia|Longevity, association with 	ICGC,
chr4	19500577	19500577	T	G	intergenic	LCORL,SLIT2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2016973	-	LIRI-JP|1|258|0.00388	-	-	-,mortality/aging	-,Schizophrenia  	COSMIC,ICGC,
chrX	61908356	61908356	A	G	intergenic	NONE,SPIN4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr11	69831526	69831526	C	T	intergenic	FGF3,LOC101928443	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,-	Syndromic deafness, microtia & microdontia|Syndromic deafness|Oto-dental syndrome|Odontoma-dysphagia syndrome|Michel aplasia, microtia & microdontia|Labyrinthine aplasia, microtia & microdontia|Craniosynostosis, intellectual disability and microcephaly|Craniosynostosis ,-	ICGC,
chr21	26826590	26826590	T	C	intergenic	LINC00158,MIR155HG	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr7	22536550	22536550	T	A	intronic	STEAP1B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr2	60066525	60066525	C	T	intergenic	LOC101927285,MIR4432	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	173608074	173608074	G	A	intronic	RAPGEF4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	endocrine/exocrine gland phenotype	Autism	ICGC,
chr7	133123653	133123653	A	G	intronic	EXOC4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6352042	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging	Meckel-Gruber syndrome|Cervical artery dissection|Autism spectrum disorder  	COSMIC,ICGC,
chr10	113398049	113398049	C	A	intergenic	ADRA2A,GPAM	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24705173	-	GACA-CN|1|123|0.00813	-	-	mortality/aging,growth/size phenotype	Diabetes, type 2, increased risk, association with|Increased fasting glucose levels, association with|Increased receptor activity|Increased trunk to extremity skinfold ratio in women, association,Complex I deficiency|Lung cancer, susceptibility to, association with	COSMIC,ICGC,
chr4	75724124	75724124	-	CTT	intergenic	BTC,PARM1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	mortality/aging,-	Altered promoter activity|Diabetes, type 1, protection against, association with |Diabetes, type 2, susceptibility, association with ,Schizophrenia	ICGC,
chr3	156118300	156118300	C	T	intronic	KCNAB1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging	-	ICGC,
chr12	23938282	23938282	G	T	intronic	SOX5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22191406	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging	Intellectual disability  |Developmental delays|Autism spectrum disorder  	COSMIC,ICGC,
chr2	113696978	113696978	G	A	intergenic	IL37,IL36G	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	106771631	106771631	G	A	intergenic	GSTCD,NPNT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,renal/urinary system phenotype	-,-	ICGC,
chr2	140962029	140962029	A	-	intergenic	YY1P2,LRP1B	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	RECA-EU|1|422|0.00237	-	-	-,mortality/aging	-,Schizophrenia   	ICGC,
chr10	1382366	1382366	A	G	intronic	ADARB2	unknown	SNV	-	-	-	0.0092	rs34111195	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-	-	ICGC,
chr5	97631806	97631806	G	T	intergenic	LINC01340,RGMB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,mortality/aging	-,-	ICGC,
chr11	105898354	105898354	A	G	intergenic	MSANTD4,KBTBD3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BOCA-FR|1|98|0.01020	-	-	-,-	-,-	ICGC,
chr19	21050240	21050240	C	T	intergenic	ZNF626,ZNF85	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-,-	Potential protein deficiency,-	ICGC,
chr12	88339484	88339484	G	A	intergenic	MKRN9P,C12orf50	unknown	SNV	-	-	-	-	rs555245602	-	0.000199681	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	ICGC,
chr1	58246721	58246721	T	G	intronic	DAB1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25483607	-	MALY-DE|1|241|0.00415	-	-	mortality/aging	Syndromic cleft lip & palate	COSMIC,ICGC,
chr1	110914649	110914649	A	-	intronic	SLC16A4	unknown	deletion	-	-	-	6.644e-05	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813,LIRI-JP|2|258|0.00775	-	-	-	-	ICGC,
chr15	59718141	59718141	T	C	intergenic	MYO1E,FAM81A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	mortality/aging,-	Focal segmental glomerulosclerosis, childhood familial|Nephrotic syndrome  |Nephrotic syndrome, steroid resistant,-	ICGC,
chr11	43007510	43007510	T	C	intergenic	LOC100507205,HNRNPKP3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1132970	-	LINC-JP|1|394|0.00254	-	-	-,-	-,-	COSMIC,ICGC,
chr2	61992858	61992858	A	G	intergenic	XPO1,FAM161A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16473784	-	LIRI-JP|1|258|0.00388	-	-	-,-	Autism,Retinal dystrophy |Retinitis pigmentosa|Retinitis pigmentosa, autosomal recessive	COSMIC,ICGC,
chr5	100627578	100627578	G	A	intergenic	ST8SIA4,SLCO4C1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	mortality/aging,-	-,-	ICGC,
chrX	115135652	115135652	A	T	intergenic	PLS3,AGTR2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	Osteoporosis, X-linked with fractures,Reduced mRNA splicing efficiency|Preeclampsia, association with|Potential protein deficiency|Mental retardation, X-linked|Mental retardation, pervasive developmental disorder, and epilepsy |Left ventricular hypertrophy, association with|Increased glomerular filtration rate, in males|Higher left ventricle mass index in HCM, association	ICGC,
chr17	20866559	20866559	C	A	ncRNA_intronic	LOC339260	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22681478	-	BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr11	29652644	29652644	-	A	intergenic	MIR8068,KCNA4	unknown	insertion	-	-	-	0.0007	rs528507918	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,behavior/neurological phenotype	-,-	ICGC,
chr7	28788358	28788358	A	G	intronic	CREB5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6877578	-	LIRI-JP|1|258|0.00388	-	-	integument phenotype	-	COSMIC,ICGC,
chr9	75459309	75459309	T	C	intergenic	TMC1,LOC101927258	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22349422	-	BRCA-EU|1|569|0.00176	-	-	integument phenotype,-	Nonsyndromic deafness, autosomal recessive|Hearing loss.|Hearing loss, nonsyndromic, autosomal recessive|Hearing loss|DFNB7/B11 deafness|DFNA36 hearing loss, association with|Deafness, non-syndromic, autosomal recessive|Deafness, non-syndromic, autosomal dominant|Deafness, non-syndromic |Deafness,-	COSMIC,ICGC,
chr14	95832664	95832664	G	A	intergenic	LOC101929080,LINC00341	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chrX	136592482	136592482	C	T	intergenic	GPR101,ZIC3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,Situs abnormality|Heterotaxy|Congenital heart disease |Cardiac malformation	ICGC,
chr14	36771958	36771958	G	A	intronic	MBIP	unknown	SNV	-	-	-	0.0005	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr4	91749453	91749453	A	T	intronic	CCSER1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr8	53935582	53935582	G	A	intergenic	NPBWR1,OPRK1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,integument phenotype	Altered receptor function,Alcohol dependence, association with|Opiate addiction, association with 	ICGC,
chr14	28109233	28109233	A	C	downstream	LINC00645	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr4	66525857	66525857	T	A	intronic	EPHA5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15058091	-	ESAD-UK|1|301|0.00332	-	-	nervous system phenotype	Mental retardation|Dravet syndrome  |Attention deficit hyperactivity disorder & learning disabilities|Alzheimer disease  	COSMIC,ICGC,
chr10	89258089	89258089	A	T	intergenic	LINC00864,MIR4678	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr8	137925970	137925970	A	G	intergenic	KHDRBS3,FAM135B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr1	203511118	203511118	G	A	intergenic	OPTC,ATP2B4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	vision/eye phenotype,reproductive system phenotype	Glaucoma, primary open angle, association with|Glaucoma, primary open angle,Schizophrenia  |Autism	ICGC,
chr7	29552213	29552213	T	C	exonic	CHN2	synonymous	SNV	-	-	0.1028	0.1578	rs3750099	0.1064	0.24381	0.1450	0.203	-	-	COCA-CN|3|321|0.00935,LAML-KR|1|205|0.00488,LICA-CN|1|402|0.00249,LUSC-KR|1|170|0.00588	-	-	cellular phenotype	Carotid intima media thickness, association with	ICGC,
chr11	68044668	68044668	C	A	intergenic	C11orf24,LRP5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	-,mortality/aging	-,Osteoporosis|Osteoporosis & hyperlipidaemia |Osteoporosis-pseudoglioma syndrome|Osteoporosis, association with |Osteoporosis, primary|Osteosclerosis|Osteosclerosis.|Peak bone mass in non-sedentary men, association with|Polycystic liver disease|Reduced Norrin signalling activity|Retinopathy of prematurity |Osteopetrosis|Lumbar spine bone-mineral content, association with|Lumbar spine bone mineral density, association with|Endosteal hyperostosis|Exudative vitreoretinopathy|Fractures in men, association with|High bone mass|High bone mass trait|Higher femoral neck bone mineral density, association with|Hypercholesterolaemia, increased risk, association with|Increased LRP5 signalling|Lower BMD in Japanese male workers, association with|Lower femoral neck bone mineral density, association with|Lower volumetric bone mineral density in women, association with	ICGC,
chrX	136672550	136672550	G	A	intergenic	ZIC3,LINC00889	unknown	SNV	-	-	-	0.0001	-	-	-	-	-	COSN26783040	-	LAML-KR|1|205|0.00488,PRAD-FR|1|25|0.04000	-	-	mortality/aging,-	Situs abnormality|Heterotaxy|Congenital heart disease |Cardiac malformation,-	COSMIC,COSMIC,ICGC,
chr4	108112928	108112928	G	A	intergenic	DKK2,PAPSS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	hematopoietic system phenotype,-	Schizophrenia, association with  ,-	ICGC,
chr3	113481619	113481619	G	-	intronic	ATP6V1A	unknown	deletion	-	-	-	3.247e-05	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	-	-	ICGC,
chr10	8193860	8193860	C	T	intergenic	GATA3,LINC00708	unknown	SNV	-	-	-	0.0001	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	integument phenotype,-	Sensorineural hearing loss, facial dysmorphism & delayed psychomotor development|Hypoparathyroidism, deafness and renal dysplasia|Hypoparathyroidism and deafness|Acute lymphoblastic leukaemia, association with ,-	ICGC,
chr9	72149841	72149841	A	G	intronic	APBA1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21538202	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	mortality/aging	-	COSMIC,COSMIC,ICGC,
chr4	187088244	187088244	G	A	exonic	FAM149A	synonymous	SNV	-	-	0.0001	0.0002	rs145714089	0.0001	0.000798722	0.0004	-	COSM295648	COAD|1|367|0.00272,COADREAD|1|489|0.00204	-	-	-	-	-	COSMIC,TCGA,
chr9	36658670	36658670	C	T	intronic	MELK	unknown	SNV	-	-	-	3.244e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Intellectual disability and dysmorphisms	ICGC,
chr8	120715997	120715999	CAA	-	intergenic	ENPP2,TAF2	unknown	deletion	-	-	-	-	rs771161638	-	-	-	-	-	-	LMS-FR|2|67|0.02985	-	-	mortality/aging,-	-,Intellectual disability  |Microcephaly, thin corpus callosum, ID syndrome	ICGC,
chr4	40302742	40302742	G	A	intergenic	RHOH,LOC101060498	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	hematopoietic system phenotype,-	RHOH deficiency,-	ICGC,
chr17	39363165	39363165	C	T	intergenic	KRTAP9-1,KRTAP9-2	unknown	SNV	-	-	-	0.0032	rs376163294	-	0.00159744	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,-	-,-	ICGC,
chr3	164632895	164632895	A	G	intergenic	LINC01192,SI	unknown	SNV	-	-	-	0.1210	rs10440028	-	0.117612	-	0.101	-	-	LAML-KR|2|205|0.00976	-	-	-,-	-,Sucrase isomaltase deficiency	ICGC,
chr11	63274509	63274526	TTAATTATCACTTTCCCT	-	ncRNA_intronic	MIR3680-1,MIR3680-2	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	ICGC,
chr1	116722915	116722915	C	A	intergenic	MAB21L3,ATP1A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,-	ICGC,
chr10	132573971	132573971	C	T	intergenic	GLRX3,MIR378C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,-	-,-	ICGC,
chr1	94248356	94248356	A	G	intronic	BCAR3	unknown	SNV	-	-	-	0.1342	rs11164990	-	0.17472	-	0.159	-	-	ESAD-UK|1|301|0.00332	-	-	vision/eye phenotype	-	ICGC,
chr2	209009503	209009503	G	A	ncRNA_intronic	LOC100507443	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-UK|1|140|0.00714	-	-	-	-	ICGC,
chr8	77180581	77180581	-	AT	intergenic	HNF4G,LINC01111	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	respiratory system phenotype,-	-,-	ICGC,
chr16	77626171	77626171	G	T	intergenic	ADAMTS18,NUDT7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BOCA-UK|1|130|0.00769	-	-	reproductive system phenotype,-	Retinal dystrophy, severe, early-onset|Microcornea, myopic chorioretinal atrophy and telecanthus|Knobloch syndrome|Bone mass, association with,Autism spectrum disorder|Colorectal cancer 	ICGC,
chr8	97011324	97011324	G	C	intergenic	LOC100500773,GDF6	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9273038	-	RECA-EU|1|422|0.00237	-	-	-,mortality/aging	-,Ocular & skeletal abnormalities|Leri's pleonosteosis|Leber congenital amaurosis.|Leber congenital amaurosis|Klippel-Feil syndrome|Chiari type I malformation?|Anophthalmia, bilateral 	COSMIC,ICGC,
chr11	17858962	17858962	G	T	intronic	SERGEF	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	-	ICGC,
chr2	71491797	71491797	G	A	intergenic	PAIP2B,ZNF638	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	reproductive system phenotype,-	-,Autism	ICGC,
chr20	36999956	36999956	G	A	exonic	LBP	nonsynonymous	SNV	0.002	1.0	4.072e-06	-	rs866079761	-	-	-	-	COSM5857832	-	-	-	-	immune system phenotype	Sepsis, reduced survival, association with.|Sepsis, in males, association with|Sepsis and multiple organ dysfunction in major trauma, association with|Reduced binding capacity for LPS and lipopeptides	COSMIC,
chr6	130606077	130606077	C	T	intronic	SAMD3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr11	17578081	17578081	G	T	intronic	OTOG	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8740683	-	OV-AU|1|93|0.01075	-	-	reproductive system phenotype	Hearing impairment, nonsyndromic	COSMIC,ICGC,
chr6	19875985	19875985	T	C	intergenic	ID4,MBOAT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	mortality/aging,-	-,-	ICGC,
chr4	146489760	146489760	C	T	intergenic	SMAD1,MMAA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Pulmonary arterial hypertension,Methylmalonic acidaemia	ICGC,
chr19	56114179	56114179	C	T	exonic	ZNF524	nonsynonymous	SNV	0.011	0.141	-	-	-	-	-	-	-	COSM3539485	SKCM|1|368|0.00272	SKCM-US|1|335|0.00299	-	-	-	-	COSMIC,TCGA,ICGC,
chr18	46803974	46803974	G	A	intronic	DYM	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	skeleton phenotype	Dyggve-Melchior-Clausen syndrome |Smith-McCort dysplasia	ICGC,
chr1	102630474	102630474	A	G	intergenic	OLFM3,COL11A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,mortality/aging	-,Stickler syndrome, type 2|Stickler syndrome|Robin sequence |Osteoarthritis, early-onset|Marshall syndrome|Marshall / Stickler syndrome|Lumbar disc herniation, association with|Fibrochondrogenesis|Deafness  	ICGC,
chr8	40726663	40726663	C	T	intronic	ZMAT4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr6	100323259	100323259	G	A	intergenic	PRDM13,MCHR2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	21401839	21401839	G	A	intronic	KCNIP4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Renal cell carcinoma 	ICGC,
chr10	79524925	79524925	GG	AT	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr6	43792101	43792101	G	A	intergenic	VEGFA,LOC100132354	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Premature ovarian failure|Peripheral artery disease, association with.|Nasopharyngeal carcinoma risk, association with|More severe septal hypertrophy and diastolic dysfunction, in hypertrophic cardiomyopathy, association with.|Left ventricular outflow tract obstruction|Ischaemic complications, in giant cell arteritis, association with.|Proliferative diabetic retinopathy, association with|Prostate cancer, association with|Psoriatic arthritis, protection against, association with|Pterygium formation, association with|Retinopathy of prematurity with retinal detachment, association with.|Retinopathy, severe, association with|Thyroid cancer, association with|Tricuspid aortic valve stenosis|Hepatocellular carcinoma, association with|Giant cell arteritis, association with|Acute rejection + VEGF production, association with|Acute rejection, association with|Alzheimer's disease|Amyotrophic lateral sclerosis|Atherosclerosis development, association with|Breast cancer, association with.|Breast cancer, decreased risk|Breast cancer, protection against, in BRCA1 carriers, association with|Decreased VEGF plasma levels, association with|Diabetic retinopathy, association with|Diabetic retinopathy, in type 2 diabetes patients, association with.|Endometriosis, association with|Endurance-related phenotypes, association with|Gastroduodenal ulcer, increased risk, association with,-	ICGC,
chr2	177349512	177349512	A	C	intergenic	MTX2,MIR1246	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	OV-AU|1|93|0.01075	-	-	-,-	-,-	ICGC,
chr3	39229826	39229826	C	T	exonic	XIRP1	nonsynonymous	SNV	0.017	1.0	-	-	-	-	-	-	-	COSM3916016	SKCM|2|368|0.00543	SKCM-US|1|335|0.00299	-	-	cardiovascular system phenotype	-	COSMIC,TCGA,ICGC,
chr15	33647935	33647935	G	C	intronic	RYR3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5212273	-	ESAD-UK|1|301|0.00332	-	-	behavior/neurological phenotype	Schizophrenia|Hyperinsulinism|Breast cancer, increased risk, association with  	COSMIC,ICGC,
chr3	178115275	178115275	G	A	intergenic	LOC102724550,LINC01014	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN56004	-	-	-	-	-,-	-,-	COSMIC,
chr11	65445310	65445310	C	G	intergenic	RELA,KAT5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	integument phenotype,mortality/aging	-,-	ICGC,
chr6	28458703	28458703	A	T	intergenic	ZSCAN23,GPX6	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2158553	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr18	27595757	27595757	C	T	intergenic	CDH2,MIR302F	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,-	Reduced expression|Potential protein deficiency|Alzheimer disease  ,-	ICGC,
chr13	68127718	68127718	A	T	intergenic	PCDH9,LINC00550	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	RECA-EU|1|422|0.00237	-	-	-,-	-,-	ICGC,
chrX	113182106	113182106	G	A	intergenic	LOC101928437,HTR2C	unknown	SNV	-	-	-	0.0002	rs782051951	-	-	-	-	COSN20950584	-	BRCA-EU|1|569|0.00176	-	-	-,integument phenotype	-,Tourette syndrome, association with|Tardive dyskinesia, association with|Suicide, association with|Reduced promoter activity|Premature ejaculation, association with|Increased promoter activity, association with|Hallucinations, in Alzheimer disease, association|Greater dopamine release|Alcohol use disorder comorbidity, association with|Anxiety, and Appetite disturbances in females, in Alzheimer disease, association with.|Bipolar affective disorder, association with|BMI, association with|Depression, in Alzheimer disease, association with.|Diabetes, association with	COSMIC,ICGC,
chr8	110211376	110211376	T	A	intergenic	TRHR,NUDCD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	reproductive system phenotype,-	Essential hypertension, association with|Isolated central hypothyroidism|Schizophrenia,-	ICGC,
chr16	82888617	82888617	T	G	intronic	CDH13	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17576095	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Higher adiponectin levels|Amyotrophic lateral sclerosis 	COSMIC,ICGC,
chr15	33993087	33993087	T	C	intronic	RYR3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21704086	-	BRCA-EU|1|569|0.00176	-	-	behavior/neurological phenotype	Schizophrenia|Hyperinsulinism|Breast cancer, increased risk, association with  	COSMIC,ICGC,
chr2	3806005	3806005	C	T	intronic	DCDC2C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr1	74722412	74722412	T	C	intronic	FPGT-TNNI3K,TNNI3K	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,Potential protein deficiency	ICGC,
chr9	7370301	7370301	A	T	intergenic	KDM4C,TMEM261	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN18819135	-	-	-	-	integument phenotype,-	Upper aerodigestive tract cancer, association with,-	COSMIC,
chr5	84558410	84558410	A	T	intergenic	EDIL3,NBPF22P	unknown	SNV	-	-	-	0.0572	rs4920772	-	0.0814696	-	0.080	-	-	ESAD-UK|2|301|0.00664	-	-	immune system phenotype,-	Schizophrenia  ,-	ICGC,
chr1	110038448	110038448	G	A	exonic	CYB561D1	nonsynonymous	SNV	0.015	1.0	3.658e-05	-	rs751790976	4.118e-05	-	-	-	-	ESCA|1|185|0.00541	-	-	-	-	-	TCGA,
chr2	98240236	98240236	G	A	intergenic	ANKRD36B,COX5B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24987361	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	COSMIC,ICGC,
chr4	89653245	89653245	A	T	exonic	FAM13A	nonsynonymous	SNV	0.565	0.003	-	-	-	-	-	-	-	COSM122976	-	-	-	-	-	-	COSMIC,
chr21	10894574	10894574	G	T	intergenic	TEKT4P2,TPTE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,Potential protein deficiency	ICGC,
chr19	3401265	3401265	C	T	intronic	NFIC	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1214407	-	-	-	-	mortality/aging	-	COSMIC,
chr4	30741424	30741424	T	A	intronic	PCDH7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr10	63489683	63489683	A	G	intronic	C10orf107	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-	-	ICGC,
chr16	47824118	47824118	T	C	intergenic	PHKB,LOC100507534	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	Phosphorylase kinase deficiency|Liver glycogenosis |Glycogen storage disease 9,-	ICGC,
chr17	57463306	57463306	C	T	intronic	YPEL2	unknown	SNV	-	-	-	6.458e-05	rs369582110	-	0.000599042	-	-	COSN6108188	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr12	9345137	9345137	C	T	exonic	PZP	nonsynonymous	SNV	0.386	0.964	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Autism spectrum disorder|Potential protein deficiency	ICGC,
chr1	58677737	58677737	A	C	intronic	DAB1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging	Syndromic cleft lip & palate	ICGC,
chr4	71394530	71394530	G	A	intronic	AMTN	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr12	128893065	128893065	G	T	intronic	TMEM132C	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7611023	-	PACA-CA|1|268|0.00373	-	-	-	-	COSMIC,ICGC,
chrX	51313157	51313157	C	T	intergenic	LOC102723426,CENPVP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	69197791	69197791	C	T	intergenic	GKN2,GKN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr17	57292048	57292048	G	T	intronic	SMG8	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8603502	-	LUSC-KR|1|170|0.00588	-	-	-	-	COSMIC,ICGC,
chr4	175896928	175896928	A	T	exonic	ADAM29	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM3775702	BLCA|1|396|0.00253	BLCA-US|1|133|0.00752	-	-	-	-	COSMIC,TCGA,ICGC,
chr1	169978940	169978940	C	T	intronic	KIFAP3	unknown	SNV	-	-	-	0.0871	rs74122304	-	0.143371	-	0.123	-	-	LAML-KR|1|205|0.00488	-	-	integument phenotype	Amyotrophic lateral sclerosis, increased survival, association with	ICGC,
chr7	91899117	91899117	A	T	intronic	ANKIB1	unknown	SNV	-	-	-	0.2812	rs2040498	-	0.215455	-	-	COSN16230454	-	ESAD-UK|6|301|0.01993,PACA-CA|1|268|0.00373	-	-	-	-	COSMIC,COSMIC,COSMIC,ICGC,
chr3	61475315	61475315	G	T	intergenic	FHIT,PTPRG	unknown	SNV	-	-	-	0.0003	rs563207057	-	0.000798722	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,integument phenotype	-,Schizophrenia	ICGC,
chr4	128054730	128054730	C	G	intergenic	MIR2054,INTU	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26054283	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,Anorectal malformation	COSMIC,ICGC,
chr15	87334955	87334956	TT	-	intronic	AGBL1	unknown	deletion	-	-	-	0.0016	-	-	-	-	-	COSN23718547	-	ESAD-UK|1|301|0.00332,ORCA-IN|1|178|0.00562	-	-	-	Fuchs corneal dystrophy, late-onset 	COSMIC,ICGC,
chr13	57584381	57584381	G	T	intergenic	MIR5007,PRR20A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr2	71872584	71872584	C	T	intronic	DYSF	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	Miyoshi myopathy.|Muscular dystrophy|Muscular dystrophy, Duchenne|Muscular dystrophy, limb girdle|Muscular dystrophy, limb girdle / Miyoshi myopathy|Muscular dystrophy, limb girdle 2B|Muscular dystrophy, limb girdle 2B.|Potential protein deficiency|Stiffness|Miyoshi myopathy|Limb-girdle muscular dystrophy type 2B|HyperCKemia|Bent spine syndrome.|Distal anterior compartment myopathy.|Distal anterior phenotype|Dysferlinopathy|Dysferlinopathy with cardiac involvement.|Dysferlinopathy, congenital onset|Dysferlinopathy, proximodistal|Dysferlinopathy, pseudometabolic|Dysferlinopathy.	ICGC,
chr6	92245424	92245424	G	C	intergenic	MIR4643,CASC6	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24989731	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	COSMIC,ICGC,
chr13	62173351	62173351	G	A	intergenic	PCDH20,LINC00358	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr20	57821971	57822002	ACTGACTTCTGATTATTTTTTGATTGGCATTG	-	intronic	ZNF831	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-	-	ICGC,
chr3	172835170	172835170	T	G	exonic	SPATA16	nonsynonymous	SNV	0.005	0.998	-	-	-	-	-	-	-	COSM1316245	-	-	-	-	-	Globozoospermia	COSMIC,
chr12	30035358	30035358	C	T	intergenic	TMTC1,IPO8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr8	73135403	73135403	T	C	ncRNA_intronic	LOC392232	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|2|301|0.00664	-	-	-	-	ICGC,
chr2	198096936	198096936	C	T	intronic	ANKRD44	unknown	SNV	-	-	-	3.229e-05	rs72928723	-	0.000199681	-	0.065	COSN26810630	-	PRAD-FR|1|25|0.04000	-	-	-	Saccular intracranial aneurysm, association with	COSMIC,ICGC,
chr1	8847380	8847380	C	T	intronic	RERE	unknown	SNV	-	-	-	0.5591	rs10864367	-	0.552915	-	0.594	COSN6472074	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Autism	COSMIC,ICGC,
chr15	22515994	22515994	C	A	intergenic	OR4N3P,REREP3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	ICGC,
chr15	67101896	67101896	G	A	intergenic	SMAD6,SMAD3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,integument phenotype	Cardiovascular malformation, congenital,Thoracic aortic aneurysms and dissections|Osteoarthritis|Hypoplastic left heart syndrome with aortic aneurysm|Aortic aneurysms & dissections with early-onset osteoarthritis|Aneurysms-osteoarthritis syndrome	ICGC,
chr5	26060089	26060089	C	G	intergenic	LOC340107,CDH9	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN14973399	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr1	205383949	205383949	G	A	intronic	LEMD1	unknown	SNV	-	-	-	6.46e-05	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-	-	ICGC,
chr8	114458723	114458723	C	A	intergenic	CSMD3,TRPS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	Schizophrenia  |Colorectal cancer ,Tricho-rhino-phalangeal syndrome with supernumerary teeth|Tricho-rhino-phalangeal syndrome III|Tricho-rhino-phalangeal syndrome I|Tricho-rhino-phalangeal syndrome|Infantile scoliosis & developmental delay|Femoral neck width, association with|Ambras syndrome	ICGC,
chr4	35138287	35138287	C	T	intergenic	NONE,ARAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	EOPC-DE|1|202|0.00495	-	-	-,-	-,-	ICGC,
chr14	87760391	87760391	C	T	intergenic	LOC283585,GALC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Krabbe disease, association with|Krabbe disease|Glaucoma, primary open-angle|Glaucoma, primary open angle	ICGC,
chr11	125606659	125606659	G	A	intergenic	ACRV1,PATE1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr15	20863745	20863745	A	T	intergenic	GOLGA8CP,NBEAP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	157141280	157141280	C	T	intronic	VEPH1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	normal phenotype	-	ICGC,
chr13	42311251	42311251	C	T	intronic	VWA8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-	Potential protein deficiency	ICGC,
chr13	86079637	86079637	A	G	ncRNA_intronic	LINC00351	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19194405	-	CLLE-ES|1|510|0.00196	-	-	-	-	COSMIC,ICGC,
chr3	156153117	156153117	C	T	intronic	KCNAB1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	mortality/aging	-	ICGC,
chr14	35231106	35231106	G	A	exonic	BAZ1A	nonsynonymous	SNV	0.034	0.0	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-	-	ICGC,
chr5	111599826	111599826	A	C	intronic	EPB41L4A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr12	80835770	80835770	C	T	intergenic	OTOGL,PTPRQ	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,behavior/neurological phenotype	Sensorineural hearing loss  |Deafness  |Autism spectrum disorder,Deafness, non-syndromic |Hearing loss  |Nonsyndromic hearing impairment DFNB84	ICGC,
chr2	214749633	214749633	G	A	intronic	SPAG16	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	reproductive system phenotype	Instability of central apparatus proteins	ICGC,
chr12	79311398	79311398	T	A	intronic	SYT1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26079540	-	ESAD-UK|1|301|0.00332,PACA-CA|1|268|0.00373	-	-	mortality/aging	-	COSMIC,ICGC,
chr15	26301196	26301196	T	A	intergenic	LOC100128714,LINC00929	unknown	SNV	-	-	-	3.227e-05	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr7	88312853	88312853	T	C	intergenic	STEAP4,ZNF804B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17047879	-	-	-	-	integument phenotype,-	Obesity, association with|Metabolic syndrome, association with,-	COSMIC,
chr12	32274193	32274193	G	A	intronic	BICD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	Shorter telomere length, association with	ICGC,
chr17	72860981	72860981	G	T	exonic	FDXR	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM6334944	-	LICA-CN|1|402|0.00249	-	-	-	-	COSMIC,COSMIC,COSMIC,ICGC,
chr17	33708634	33708634	G	A	intergenic	SLFN11,SLFN12	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	63304312	63304312	C	T	intronic	SYNPR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	no phenotypic analysis	-	ICGC,
chr2	199540649	199540649	A	C	intergenic	LOC101927619,SATB2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21644516	-	BRCA-EU|1|569|0.00176	-	-	-,mortality/aging	-,Toriello-Carey syndrome|Pierre Robin sequence  |Intellectual disability, nonsyndromic|Dentofacial abnormalities|Cleft palate, osteoporosis and cognitive defects|Cleft palate|Autism spectrum disorder	COSMIC,ICGC,
chr19	34143677	34143677	G	C	intronic	CHST8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	reproductive system phenotype	Peeling skin syndrome, type A|Tetralogy of Fallot	ICGC,
chr9	13068258	13068258	A	G	intergenic	LURAP1L,MPDZ	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,Retinitis pigmentosa |Leber congenital amaurosis  |Hydrocephalus|Autism	ICGC,
chr10	91986234	91986234	A	G	intergenic	LINC01375,LOC101926942	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17497078	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	COSMIC,ICGC,
chr3	66538409	66538409	G	A	intronic	LRIG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype	-	ICGC,
chrX	121331924	121331924	C	T	intergenic	GLUD2,GRIA3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	Parkinson disease, earlier onset, association with,Mental retardation, X-linked|Intellectual disability, X-linked with facial dysmorphism|Intellectual disability, X-linked|Autism spectrum disorder	ICGC,
chr17	60237126	60237126	G	A	intergenic	MED13,TBC1D3P2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	cardiovascular system phenotype,-	Cataract, hearing loss, intellectual disability & short stature,-	ICGC,
chr4	118159432	118159432	C	T	intergenic	TRAM1L1,NDST3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,-	ICGC,
chr17	31767696	31767696	C	T	intronic	ASIC2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	taste/olfaction phenotype	Dyslexia 	ICGC,
chr6	10865309	10865309	G	A	intergenic	MAK,GCM2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	reproductive system phenotype,mortality/aging	Retinitis pigmentosa,Hypoparathyroidism	ICGC,
chr10	55017418	55017418	G	A	intergenic	MBL2,PCDH15	unknown	SNV	-	-	-	3.233e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype,vision/eye phenotype	Leprosy, association with|Lung cancer survival, association with|Mannose-binding protein deficiency, association|Placental malaria, susceptibility to, association with|Systemic lupus erythematosus, association with|Tuberculosis, protection against, association with|Type 2 diabetes, association with|Ulcerative colitis, association with.|Vulvovaginal candidiasis, recurrent, association with|Lepromatous leprosy, protection against, association with|Kawasaki disease, association with|Antiphospholipid syndrome, association with|Bacterial infection, increased risk, association with|Colon cancer, association with|Crohn's disease, in children, association with|Dental caries, association with.|HIV-1 infection, increased susceptibility, association with|HIV-1 infection, susceptibility, association|Increased serum MBL level |Infection, in children, association with.,Usher syndrome II|Usher syndrome 1f|Usher syndrome 1|Lipid levels in hyperlipidaemia, association with|Hearing loss, non-syndromic|Deafness, non-syndromic, autosomal recessive|Deafness, non-syndromic |Deafness  	ICGC,
chr4	39516743	39516743	G	A	ncRNA_intronic	MIR1273H	unknown	SNV	-	-	-	6.458e-05	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr3	37167523	37167523	-	GT	intronic	LRRFIP2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	-	ICGC,
chr3	59040054	59040054	C	A	intergenic	C3orf67,FHIT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,integument phenotype	-,-	ICGC,
chr9	19420229	19420229	G	A	intronic	ACER2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-	-	ICGC,
chr2	129806825	129806825	A	G	intergenic	LOC101927881,LOC151121	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr3	189246896	189246896	G	A	intergenic	TPRG1,TP63	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,integument phenotype	-,EECUT plus syndrome|Limb-mammary syndrome|Lung adenocarcinoma, susceptibility to, association with|Rapp-Hodgkin syndrome|Rapp-Hodgkin/AEC/ADULT syndrome|Split hand-split foot malformation with amelogenesis imperfecta|Split-hand/split-foot and anorectal malformations.|Split-hand/split-foot malformation|EEC syndrome without clefting|EEC syndrome with linear and whorled naevoid hypermelanosis|ADULT syndrome|ADULT syndrome with cleft palate|AEC / Rapp-Hodgkin syndrome|AEC syndrome|Cleft lip, non-syndromic|Cleft palate, hypohidrosis and oligodontia|Ectrodactyly, ectodermal dysplasia, & clefting/Ectrodactyly-ectoderm. dyspl./Ectoderm. dyspl./Split hand-foot malf. type 4.|EEC syndrome	ICGC,
chr3	159877417	159877417	A	T	ncRNA_intronic	IL12A-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7829100	-	PACA-AU|1|391|0.00256	-	-	-	-	COSMIC,ICGC,
chr6	167427547	167427547	T	G	intronic	FGFR1OP	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr13	59250930	59250930	A	G	intergenic	LOC101926897,DIAPH3	unknown	SNV	-	-	-	0.6328	rs9538158	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,Autism  |Auditory neuropathy spectrum disorder|Auditory neuropathy	ICGC,
chr18	13834162	13834162	A	C	intergenic	MC5R,MC2R	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	integument phenotype,mortality/aging	-,Glucocorticoid deficiency without pigmentation|Glucocorticoid deficiency |Cushing syndrome|Androgen secretion, association with|Adrenal hypoplasia, salt-losing|ACTH responsiveness, association with|ACTH hypersensitivity syndrome	ICGC,
chr9	126496912	126496912	C	G	intronic	DENND1A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20898165	-	BRCA-EU|1|569|0.00176	-	-	-	Polycystic ovary syndrome, increased risk	COSMIC,ICGC,
chr2	155027571	155027571	T	A	intronic	GALNT13	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9863624	-	RECA-EU|1|422|0.00237	-	-	normal phenotype	-	COSMIC,ICGC,
chr12	7308999	7308999	G	A	intronic	CLSTN3	unknown	SNV	-	-	7.638e-06	-	-	-	-	-	-	COSN26436451	-	COCA-CN|1|321|0.00312	-	-	-	-	COSMIC,COSMIC,COSMIC,ICGC,
chr10	34906747	34906747	C	T	intronic	PARD3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	mortality/aging	Neural tube defects	ICGC,
chr1	79632278	79632278	C	T	intergenic	ELTD1,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|3|183|0.01639	-	-	normal phenotype,-	-,-	ICGC,
chr7	98880571	98880571	G	A	ncRNA_intronic	MYH16	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr17	2268147	2268147	G	T	intronic	SGSM2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	Increased fasting proinsulin concentration, association with|Schizophrenia	ICGC,
chr2	163685504	163685504	G	A	intronic	KCNH7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-	-	ICGC,
chr11	97310171	97310171	C	T	intergenic	JRKL-AS1,MIR7976	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr6	151984911	151984911	T	C	intergenic	CCDC170,ESR1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,integument phenotype	-,Osteoporosis|Oestrogen resistance|Lower femoral neck BMD, association with|Left ventricular hypertrophy, association with |Ischaemic stroke, association with.|Osteoporosis, association with|Plasma lipid levels, association with|Precocious puberty|Prostate cancer, association with|Reduced plasma B-type natriuretic peptide levels, association|Reduced spermatogenesis in infertile men, association|Systemic lupus erythematosus, risk, association with |Thyroid cancer, tumour status, association with|Infertility, male, association with|Increased HDL cholesterol, association with|Altered endothelial fibrinolytic regulation|Altered gene expression|Altered splicing |Altered transcriptional regulation |Alzheimer disease in women, increased risk|Breast cancer  |Breast cancer in women of 50 years or younger, association with|Breast cancer, association with |Castration-resistant prostate cancer, association|Cleft lip and palate |Endometrial cancer risk, association with|Hepatitis  B virus-related liver cirrhosis, association with|Increased HDL cholesterol after HRT, association with	ICGC,
chr22	20109893	20109893	C	T	exonic	RANBP1	nonsynonymous	SNV	0.0	1.0	-	-	-	-	-	-	-	COSM6289623	-	LICA-CN|1|402|0.00249	-	-	reproductive system phenotype	-	COSMIC,ICGC,
chr4	177109388	177109388	T	C	splicing	SPATA4	splicing	SNV	-	-	-	-	-	-	-	-	-	COSM3946198	-	LUSC-KR|2|170|0.01176	-	-	-	Potential protein deficiency	COSMIC,ICGC,
chr8	67418442	67418445	CAGA	-	intronic	C8orf46	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	-	ICGC,
chr16	69801935	69801935	C	T	intronic	WWP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr11	106783837	106783837	A	T	intronic	GUCY1A2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	hematopoietic system phenotype	-	ICGC,
chr7	88382978	88382978	A	T	intergenic	STEAP4,ZNF804B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,-	Obesity, association with|Metabolic syndrome, association with,-	ICGC,
chr19	16125275	16125275	G	T	intergenic	OR10H4,LINC00661	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	ICGC,
chr8	76884908	76884908	A	C	intergenic	HNF4G,LINC01111	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2289886	-	LIRI-JP|1|258|0.00388	-	-	respiratory system phenotype,-	-,-	COSMIC,ICGC,
chr13	33566023	33566023	G	A	intergenic	LINC00423,KL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Tumoural calcinosis|Priapism in sickle cell anaemia, association with|Metabolic syndrome, association with|Kidney stones, increased risk|Ischemic stroke, early onset, association with|Hypophosphataemic rickets and hyperparathyroidism|Essential hypertension, association with|Early dysfunction in vascular access in haemodialysis, association|Coronary artery disease, association with|Breast / ovarian cancer, increased risk, association with|Age-related phenotypes, association with	ICGC,
chr12	111110292	111110292	G	A	intronic	HVCN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	immune system phenotype	Altered enzyme activity	ICGC,
chr8	131014965	131014965	C	G	intergenic	FAM49B,MIR5194	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr2	170350306	170350306	T	G	exonic	BBS5	nonsynonymous	SNV	0.007	0.97	-	3.229e-05	-	-	-	-	-	COSM4952987	-	LICA-FR|1|252|0.00397	-	-	-	Retinitis pigmentosa|Phenotype modifier|Choroideremia|Bardet-Biedl syndrome	COSMIC,ICGC,
chr4	31448353	31448353	-	T	intergenic	PCDH7,NONE	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|2|71|0.02817	-	-	-,-	-,-	ICGC,
chr1	200080295	200080295	T	-	intronic	NR5A2	unknown	deletion	-	-	3.657e-05	-	rs763134418	8.589e-05	-	0.0004	-	-	-	GACA-JP|1|585|0.00171	-	-	mortality/aging	-	ICGC,
chr8	127253286	127253286	T	G	intergenic	LINC00861,FAM84B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21037062	-	BRCA-UK|1|141|0.00709,BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,COSMIC,ICGC,
chr5	131172569	131172569	C	T	intronic	LOC728637	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6583633	-	PBCA-DE|1|499|0.00200	-	-	-	-	COSMIC,ICGC,
chr6	29923091	29923091	T	G	intergenic	HLA-A,HCG9	unknown	SNV	-	-	-	0.2376	rs9260620	-	0.258586	-	0.261	-	-	MALY-DE|1|241|0.00415	-	-	-,-	HLA-A low expression allele|HLA-A null allele|HLA-A variant|Rheumatoid arthritis, seropositive, reduced risk,-	ICGC,
chr8	78524605	78524605	T	C	intergenic	PEX2,PKIA	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2290714	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging,normal phenotype	Zellweger syndrome|Refsum disease, infantile|Peroxisome biogenesis disorder|Cerebellar ataxia, autosomal recessive,-	COSMIC,ICGC,
chr20	14673571	14673571	T	G	intronic	MACROD2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	Kabuki syndrome|Attention deficit hyperactivity disorder 	ICGC,
chr12	49142091	49142091	C	T	ncRNA_intronic	LINC00935	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr3	71471375	71471375	G	A	intronic	FOXP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	mortality/aging	Speech delay, contractures, hypertonia & blepharophimosis|Mental retardation, speech and language deficits|Intellectual disability & autism|Intellectual disability|Delayed speech/motor development & Chiari I malformation|Congenital heart defects|Childhood apraxia of speech|Autism, speech delay and deficit of motor coordination|Autism spectrum disorder  	ICGC,
chr17	36214405	36214405	G	A	ncRNA_intronic	YWHAEP7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr8	117555713	117555713	C	T	intergenic	LINC00536,EIF3H	unknown	SNV	-	-	-	3.236e-05	-	-	-	-	-	COSN19061959	-	CLLE-ES|1|510|0.00196	-	-	-,-	-,Colorectal cancer, increased risk, association with	COSMIC,ICGC,
chr15	30706599	30706599	C	A	upstream	GOLGA8R	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-	-	ICGC,
chr17	21962762	21962762	G	A	intergenic	FLJ36000,MTRNR2L1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr13	93510976	93510976	G	T	intronic	GPC5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25419552	-	MALY-DE|1|241|0.00415	-	-	-	Spina bifida  	COSMIC,ICGC,
chr12	133042468	133042468	C	T	intergenic	LOC101928416,FBRSL1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8702032	-	OV-AU|1|93|0.01075	-	-	-,-	-,-	COSMIC,ICGC,
chr5	135128287	135128287	G	T	intergenic	LOC340074,SLC25A48	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	-,-	ICGC,
chr8	76462403	76462403	C	T	intronic	HNF4G	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	respiratory system phenotype	-	ICGC,
chr4	24714183	24714183	G	A	intergenic	DHX15,SOD3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	Potential protein deficiency,Preeclampsia severity, association with|Pre-eclampsia with severe foetal growth restriction, association with|Lower values of blood pressure, association|Elevated extracellular SOD, association|Diabetes, type 2, association with|Altered lung function, association with	ICGC,
chr2	237156590	237156590	G	A	intronic	ASB18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr2	80194707	80194707	C	T	intronic	CTNNA2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Schizophrenia	ICGC,
chrX	23396553	23396553	G	T	intronic	PTCHD1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24072762	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	-	Autism spectrum disorder|Intellectual disability|Intellectual disability, X-linked	COSMIC,COSMIC,ICGC,
chr18	62295844	62295844	C	T	intergenic	LOC284294,CDH7	unknown	SNV	-	-	-	-	rs779336476	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr6	25826862	25826862	C	T	splicing	SLC17A1	splicing	SNV	-	-	-	-	-	-	-	-	-	COSM740942	LUSC|1|178|0.00562	LUSC-US|1|194|0.00515	-	-	-	Gout, association with|Uric acid concentration, association with	COSMIC,TCGA,ICGC,
chr17	40266016	40266021	ACCAAT	-	exonic	KAT2A	frameshift	deletion	-	-	-	-	-	-	-	-	-	COSM5801867	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging	-	COSMIC,ICGC,
chr15	50264887	50264887	G	A	exonic	ATP8B4	nonsynonymous	SNV	0.0	1.0	-	-	-	-	-	-	-	COSM5651301	-	-	-	-	-	-	COSMIC,
chrX	104999965	104999965	G	T	intronic	IL1RAPL2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	-	ICGC,
chr8	144033564	144033564	G	A	intergenic	CYP11B2,LOC100133669	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,-	Increased 18-hydroxycortisol production|Increased fasting glucose levels, association with|Ischaemic stroke, association with.|Low renin hypertension, association with|Normotensive pregnancy, association with|Primary hypoaldosteronism and moderate bilateral deafness|Raised aldosterone to renin ratio, association|Hypoaldosteronism, primary selective|Hypoaldosteronism|Hypertensive pregnancy, association with|Aldosterone synthase deficiency|Aldosterone synthase deficiency, type 1|Aldosterone synthase deficiency, type 2|Altered steroid production|Corticosterone methyl oxidase deficiency|Higher systolic blood pressure, association with|Hypertension & stroke, increased risk ,-	ICGC,
chr13	72821688	72821688	C	T	intergenic	DACH1,MZT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Renal hypodysplasia,-	ICGC,
chr17	72985541	72985541	-	CACACACTCA	intronic	CDR2L	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	-	ICGC,
chr7	132719049	132719049	G	A	intronic	CHCHD3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	mortality/aging	-	ICGC,
chr2	225910907	225910907	C	T	intergenic	DOCK10,NYAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr10	132099789	132099789	A	G	intergenic	GLRX3,MIR378C	unknown	SNV	-	-	-	0.0002	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	mortality/aging,-	-,-	ICGC,
chr3	179085257	179085257	C	T	exonic	MFN1	nonsynonymous	SNV	0.008	0.728	-	-	-	-	-	-	-	COSM1214976	-	-	-	-	mortality/aging	-	COSMIC,
chr14	87558111	87558111	T	A	intergenic	LOC283585,GALC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,mortality/aging	-,Krabbe disease, association with|Krabbe disease|Glaucoma, primary open-angle|Glaucoma, primary open angle	ICGC,
chr6	54008146	54008146	G	A	intronic	MLIP	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LAML-KR|1|205|0.00488	-	-	-	-	ICGC,
chr3	102406005	102406005	G	A	intergenic	ZPLD1,MIR548A3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN14941640	-	ESAD-UK|1|301|0.00332	-	-	-,-	Cerebral cavernous malformations,-	COSMIC,ICGC,
chr6	79102807	79102807	C	T	intergenic	MEI4,IRAK1BP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,no phenotypic analysis	-,-	ICGC,
chr7	79492122	79492122	-	A	intergenic	MIR548M,GNAI1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PRAD-UK|1|140|0.00714	-	-	-,immune system phenotype	-,-	ICGC,
chr2	240751326	240751326	C	G	intergenic	LOC150935,MIR4786	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25095284	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	COSMIC,ICGC,
chr3	56327974	56327974	C	T	intronic	ERC2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	vision/eye phenotype	-	ICGC,
chr22	51106302	51106302	C	G	intergenic	ARSA,SHANK3	unknown	SNV	-	-	-	0.0014	rs529172326	-	-	-	-	COSN21195481	-	BRCA-EU|1|569|0.00176	-	-	hematopoietic system phenotype,integument phenotype	Reduced enzyme activity|Potential protein deficiency|Phenotype modifier, association with |Multiple sclerosis, progression, association with|Multiple sclerosis, disease progression, association with|Metachromatic leukodystrophy|Autism, non-complex|Arylsulphatase A pseudodeficiency, association,Schizophrenia |Phelan-McDermid syndrome|Intellectual disability, nonsyndromic|Intellectual disability  |Bipolar disorder and epilepsy|Bipolar affective disorder & early dementia|Autism spectrum disorder|Attention deficit hyperactivity disorder, combined|22q13 deletion syndrome	COSMIC,ICGC,
chr2	230155247	230155247	A	C	intergenic	PID1,DNER	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,behavior/neurological phenotype	Anorectal malformation,-	ICGC,
chr7	19158753	19158753	T	C	intergenic	TWIST1,FERD3L	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,cellular phenotype	Synostotic frontal plagiocephaly|Saethre-Chotzen-like syndrome, intellectual disability & autism|Saethre-Chotzen-like syndrome|Saethre-Chotzen syndrome & hyper IgE syndrome|Saethre-Chotzen syndrome & hand-foot-uterus syndrome|Saethre-Chotzen syndrome|Robinow-Sorauf syndrome|Plagiocephaly |Microcephaly, facial dysmorphism and short stature|Craniosynostosis.|Craniosynostosis|Brachicephaly |Baller-Gerold syndrome,-	ICGC,
chr2	99785003	99785003	G	A	downstream	MITD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr12	56299480	56299480	CC	TT	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr8	18818249	18818249	A	T	intronic	PSD3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr18	40601015	40601015	G	A	intronic	RIT2	unknown	SNV	-	-	-	-	rs540011819	-	0.000199681	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-	-	ICGC,
chr9	104888054	104888054	C	T	intergenic	GRIN3A,LINC00587	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	vision/eye phenotype,-	Schizophrenia, increased risk |Schizophrenia |Potential protein deficiency,-	ICGC,
chr4	76655638	76655638	-	T	intronic	USO1	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN23259828	-	-	-	-	-	-	COSMIC,
chr5	127932682	127932682	C	G	intergenic	FBN2,SLC27A6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging,-	Contractural arachnodactyly|Congenital heart disease ,-	ICGC,
chr3	87558116	87558116	G	T	intergenic	POU1F1,HTR1F	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	mortality/aging,integument phenotype	Mental retardation, in women, association with|Pituitary hormone deficiencies, multiple|Pituitary hormone deficiency,-	ICGC,
chr2	242780716	242780716	T	A	intergenic	NEU4,PDCD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging,mortality/aging	-,Systemic lupus erythematosus, association with|Subacute sclerosing panencephalitis, incr suscept, association|Multiple sclerosis, progression, association with|Autism	ICGC,
chr9	805327	805327	T	G	intergenic	KANK1,DMRT1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25847208	-	EOPC-DE|1|202|0.00495	-	-	-,reproductive system phenotype	Potential protein deficiency|Fasting proinsulin concentration, association with|Cerebral palsy|Autism spectrum disorder, motor delay & intellectual disability|Autism ,46,XY disorder of sex development |46,XY ovotesticular disorder of sexual development|Azoospermia  |XY gonadal dysgenesis|XY sex reversal 	COSMIC,ICGC,
chr8	89422911	89422911	G	T	intergenic	MMP16,RIPK2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25230385	-	MALY-DE|1|241|0.00415	-	-	mortality/aging,hematopoietic system phenotype	-,Autism spectrum disorder	COSMIC,ICGC,
chr19	53569439	53569439	G	A	downstream	ZNF160	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr1	102304256	102304256	A	G	intronic	OLFM3	unknown	SNV	-	-	-	0.2646	rs10443186	-	0.265176	-	0.261	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr7	12946726	12946726	G	A	intergenic	ARL4A,ETV1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7959814	-	PACA-AU|1|391|0.00256	-	-	reproductive system phenotype,mortality/aging	-,-	COSMIC,ICGC,
chr2	175252906	175252906	G	A	intronic	CIR1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chrX	151568762	151568762	C	T	intronic	GABRA3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	Decreased expression	ICGC,
chr7	93895062	93895062	A	G	intergenic	BET1,COL1A2	unknown	SNV	-	-	-	0.0006	-	-	-	-	-	COSN8047773	-	PACA-AU|1|391|0.00256	-	-	-,integument phenotype	-,Osteogenesis imperfecta Ib|Osteogenesis imperfecta II|Osteogenesis imperfecta II.|Osteogenesis imperfecta II/III|Osteogenesis imperfecta III|Osteogenesis imperfecta III/IV|Osteogenesis imperfecta IV|Osteogenesis imperfecta IV.|Osteogenesis imperfecta/Ehlers-Danlos syndrome|Osteoporosis|Osteoporosis, juvenile|Tooth agenesis|Osteogenesis imperfecta I/IV|Osteogenesis imperfecta I|Osteogenesis imperfecta|Bone mineral density, association with|Ehlers-Danlos syndrome |Ehlers-Danlos syndrome VII|Ehlers-Danlos syndrome VII, with cardiac valve disease.|Ehlers-Danlos syndrome, hypermobile|Ehlers-Danlos syndrome/Osteogenesis imperfecta|Hepatocellular carcinoma, increased risk, association with|Increased transcription|Intracranial aneurysm, susceptibility, association with|Lower BMD / increased stroke risk|Marfan syndrome |Minor connective tissue anomaly 	COSMIC,ICGC,
chr12	72958760	72958760	T	G	intronic	TRHDE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	no phenotypic analysis	-	ICGC,
chr5	806227	806227	G	C	intronic	ZDHHC11	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	-	ICGC,
chr11	108204615	108204615	G	A	exonic	ATM	nonsynonymous	SNV	0.468	0.205	4.065e-06	-	-	-	-	-	-	-	-	-	Hereditary_cancer-predisposing_syndrome	-	mortality/aging	Tissue response in radiotherapy, association with|Multiple myelomas|Multiple cancers|Mantle cell lymphoma|Lung cancer, increased risk, association with|Longevity, association with|Longer telomere length, association with|Leukaemia risk|Increased risk of lung cancer in never smokers, association with |Hodgkin disease |Multiple sessile serrated adenoma|Non-obstructive azoospermia, increased risk|Stable coronary atherosclerotic lesions, association with |Radiotherapy tissue response|Prostate cancer  |Pancreatic cancer, association with|Pancreatic cancer|Ovarian cancer |Oral cancer susceptibility, association with|Ocular telangiectasia|Non-small-cell lung cancer, association with |Colorectal cancer?|Colorectal cancer, age of onset, association with.|Chronic lymphocytic leukaemia risk|Ataxia telangiectasia, variant|Ataxia telangiectasia, mild|Ataxia telangiectasia, late-onset variant|Ataxia telangiectasia, atypical|Ataxia telangiectasia|Ataxia telangiecstasia|Astrocytoma, association with|Acute lymphoblastic leukaemia||Breast cancer |Breast cancer risk in older women, association |Breast cancer susceptibility|Chronic lymphocytic leukaemia progression|Breast carcinoma, association with.|Breast cancer.|Breast cancer, susceptibility to |Breast cancer, susceptibility |Breast cancer, increased risk|Breast cancer, contralateral, reduced risk, association with|Breast cancer, bilateral, association with|Breast cancer, association with	ClinVar,
chr16	80793037	80793043	GGTTTAT	-	intronic	CDYL2	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	-	ICGC,
chr11	59031496	59031496	G	A	intergenic	MPEG1,OR5AN1	unknown	SNV	-	-	-	0.0050	rs554966840	-	0.00638978	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	ICGC,
chr3	6449445	6449445	T	G	intergenic	MIR4790,LOC101927347	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr12	40262827	40262827	G	A	intronic	SLC2A13	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr16	31914474	31914474	G	A	intronic	ZNF267	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr8	50859907	50859907	C	T	intronic	SNTG1	unknown	SNV	-	-	-	0.8734	rs318877	-	0.917732	-	0.913	-	-	ESAD-UK|1|301|0.00332	-	-	-	Autism|Intellectual disability, cleft palate, hearing loss and dysmorphisms	ICGC,
chr1	195389649	195389649	C	G	intergenic	NONE,KCNT2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	ICGC,
chr1	152099992	152099992	T	C	intergenic	TCHH,RPTN	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	Potential protein deficiency,-	ICGC,
chr6	42407467	42407467	T	A	intronic	TRERF1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5088125	-	LINC-JP|1|394|0.00254	-	-	-	Colorectal cancer, increased risk, association with	COSMIC,ICGC,
chr9	134840552	134840552	T	C	intronic	MED27	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr4	74921608	74921608	-	CC	upstream	PPBPP2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr7	126736769	126736769	C	T	intronic	GRM8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	behavior/neurological phenotype	Attention deficit hyperactivity disorder|Autism spectrum disorder  	ICGC,
chr3	68738347	68738347	C	T	intergenic	FAM19A1,FAM19A4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|2|100|0.02000	-	-	-,-	-,-	ICGC,
chr1	221181816	221181816	T	G	intergenic	HLX,C1orf140	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	integument phenotype,-	Asthma, association with|Diaphragmatic hernia, congenital ,-	ICGC,
chr3	124646552	124646552	G	A	exonic	MUC13	nonsynonymous	SNV	-	0.001	-	-	-	-	-	-	-	COSM5923644	-	-	-	-	-	Ulcerative colitis, association with	COSMIC,
chr2	180929601	180929601	G	C	intergenic	CWC22,SCHLAP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr20	6637179	6637179	C	G	intergenic	CASC20,BMP2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9147946	-	OV-AU|1|93|0.01075	-	-	-,mortality/aging	-,Wolff-Parkinson-White syndrome|Wolff-Parkinson-White & Alagille syndrome|Thymoma and autoimmune disease |Reduced fat and increased muscle mass, association with|Orofacial cleft palate|Decreased mRNA stability|Colorectal cancer, increased risk, association with|Cleft palate  |Brachydactyly type A2|Bone mass, association with 	COSMIC,ICGC,
chr10	13028180	13028180	T	-	intronic	CCDC3	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr14	43377122	43377122	-	AAAA	intergenic	LRFN5,FSCB	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	Short stature|Developmental delay, seizures & learning problems ,Tourette syndrome 	ICGC,
chr8	73503874	73503874	T	A	intronic	KCNB2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-AU|1|391|0.00256	-	-	behavior/neurological phenotype	Tetralogy of Fallot	ICGC,
chr8	64680201	64680201	G	A	intergenic	YTHDF3,LINC01289	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr2	221426954	221426954	G	A	intergenic	MIR4268,EPHA4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,reproductive system phenotype	-,Amyotrophic lateral sclerosis, reduced disease severity	ICGC,
chr1	48563593	48563593	C	T	intergenic	TRABD2B,SKINTL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	-,-	ICGC,
chr4	82357411	82357411	C	T	intronic	RASGEF1B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	Mental retardation, in chromosome 4q21 deletion syndrome	ICGC,
chr11	57341050	57341050	C	T	intergenic	UBE2L6,SERPING1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,cardiovascular system phenotype	-,Vasculitic neuropathy|Macular degeneration, age related, association with|Angioneurotic oedema|Angioedema, hereditary.|Angioedema, hereditary	ICGC,
chr10	116457057	116457057	A	T	intergenic	ABLIM1,LOC101927692	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	RECA-EU|1|422|0.00237	-	-	normal phenotype,-	Schizophrenia  ,-	ICGC,
chr11	29515001	29515001	A	C	intergenic	MIR8068,KCNA4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,behavior/neurological phenotype	-,-	ICGC,
chr22	42286626	42286626	A	G	intronic	SREBF2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8010880	-	PACA-CA|1|268|0.00373	-	-	integument phenotype	Increased plasma total cholesterol levels, association with|Increased low density lipoprotein cholesterol levels, association|Increased intima-media thickness, association with|Hypercholesterolaemia |High HDL cholesterol|Non-alcoholic fatty liver disease, association with	COSMIC,ICGC,
chr2	27800640	27800640	G	T	exonic	C2orf16	stopgain	SNV	-	-	-	-	-	-	-	-	-	COSM1019757	UCEC|1|248|0.00403	UCEC-US|1|250|0.00400	-	-	-	-	COSMIC,COSMIC,TCGA,ICGC,
chr11	119641111	119641111	C	T	intergenic	LOC102724301,TRIM29	unknown	SNV	-	-	-	-	rs536196049	-	-	-	-	COSN20728786	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chrX	108797370	108797370	G	A	intergenic	NXT2,KCNE1L	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,-	-,Idiopathic ventricular fibrillation|Atrial fibrillation, lone, early-onset|Atrial fibrillation	ICGC,
chr3	84690885	84690885	C	A	ncRNA_intronic	LINC00971	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23550835	-	ESAD-UK|1|301|0.00332	-	-	-	-	COSMIC,ICGC,
chr2	139788374	139788374	G	A	intergenic	YY1P2,LRP1B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Schizophrenia   	ICGC,
chr2	86297203	86297203	C	T	exonic	POLR1A	nonsynonymous	SNV	0.0	1.0	-	-	-	-	-	-	-	-	BLCA|1|396|0.00253	-	-	-	-	-	TCGA,
chr6	139881803	139881803	C	T	intergenic	LOC645434,LOC100132735	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr6	87555199	87555199	A	G	intergenic	SNHG5,HTR1E	unknown	SNV	-	-	-	3.234e-05	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	-,-	-,-	ICGC,
chr9	78064182	78064182	T	C	intergenic	OSTF1,MIR548H3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	ICGC,
chr10	36772761	36772761	G	T	intergenic	LINC01452,ANKRD30A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	-,-	ICGC,
chr1	56877485	56877485	G	A	intergenic	MIR4422,PPAP2B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,-	ICGC,
chr3	152277736	152277736	C	T	intergenic	MBNL1,P2RY1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26352332	-	PRAD-UK|1|140|0.00714	-	-	vision/eye phenotype,hematopoietic system phenotype	Myotonic dystrophy, type 1, association with|Myotonic dystrophy, type 1, modifier of,-	COSMIC,ICGC,
chr10	27598127	27598127	C	T	intergenic	LRRC37A6P,PTCHD3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-UK|1|141|0.00709	-	-	-,-	-,Potential protein deficiency|Null allele|Colorectal cancer?|Colorectal cancer|Autism spectrum disorder	ICGC,
chr8	137040738	137040738	C	T	intergenic	KHDRBS3,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr10	105793778	105793778	C	T	exonic	COL17A1	nonsynonymous	SNV	0.298	0.004	0.0002	0.0003	rs143021968	0.0002	0.000199681	0.0005	-	COSM6632569	-	-	Epidermolysis_bullosa,_junctional	-	integument phenotype	Ossification of posterior longitudinal ligament, association with|Epidermolysis bullosa, junctional, localised |Epidermolysis bullosa, junctional, late-onset|Epidermolysis bullosa, junctional, generalised|Epidermolysis bullosa, junctional with prurigo-like lesions|Epidermolysis bullosa, junctional|Epidermolysis bullosa, Herlitz|Epidermolysis bullosa, atrophic benign|Epidermolysis bullosa	ClinVar,COSMIC,
chr3	35849459	35849459	C	T	intergenic	ARPP21,STAC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	nervous system phenotype,-	-,-	ICGC,
chr5	110520399	110520399	G	A	intergenic	WDR36,CAMK4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN18898226	-	-	-	-	mortality/aging,integument phenotype	Glaucoma, high tension |Glaucoma, primary open angle|Glaucoma, primary open angle, association with ,Azoospermia|Longevity, association with 	COSMIC,
chr2	90446437	90446437	C	G	intergenic	MIR4436A,LOC654342	unknown	SNV	-	-	-	0.0019	-	-	-	-	-	-	-	LAML-KR|1|205|0.00488	-	-	-,-	-,-	ICGC,
chr1	242720800	242720800	C	T	intergenic	PLD5,LINC01347	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	ICGC,
chr17	28606111	28606111	A	G	intronic	BLMH	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	integument phenotype	Alzheimer disease, association with	ICGC,
chr10	13110870	13110870	G	A	intronic	CCDC3	unknown	SNV	-	-	-	0.0001	rs370277487	-	0.000199681	-	-	COSN22768053	-	BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr6	88782692	88782692	A	T	intergenic	SPACA1,CNR1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	reproductive system phenotype,integument phenotype	-,Ulcerative colitis, reduced risk, association with|Sweet taste threshold, association with|Schizophrenia, hebephrenic, association with|Procedural learning, higher performance, association with|Post-traumatic stress disorder, association with.|Neuroticism, association with|IV drug dependence, susceptibility to, association|Increased waist circumference in obese men, association|Impulsive behaviour, association with|Huntington disease, age at onset, association with|Abdominal adiposity in obese men, association with |Altered function|Altered HDL cholesterol levels|Anorexia and bulimia nervosa, association with|Anorexia nervosa, binging/purging, association|Autism spectrum disorder|Cocaine dependence, association with|Colorectal cancer outcome	ICGC,
chr16	74129166	74129166	C	G	intergenic	LOC100506172,LOC101928035	unknown	SNV	-	-	-	0.1539	rs754607924	-	-	-	-	COSN28103792	-	PRAD-CA|1|308|0.00325,PBCA-US|1|186|0.00538	-	-	-,-	-,-	COSMIC,COSMIC,ICGC,
chr7	68852846	68852846	G	A	intergenic	LOC102723427,LOC100507468	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr16	64206641	64206641	G	T	intergenic	NONE,CDH11	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1705093	-	LIRI-JP|1|258|0.00388	-	-	-,integument phenotype	-,-	COSMIC,ICGC,
chr2	198911395	198911395	C	G	intronic	PLCL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging	-	ICGC,
chr6	163064446	163064446	-	AAGAAA	intronic	PARK2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	integument phenotype	Parkinson disease, decreased risk|Parkinson disease, early-onset|Parkinson disease, early-onset.|Parkinson disease, familial|Parkinson disease, familial, association with |Parkinson disease, idiopathic|Parkinson disease, in heterozygosity, association|Parkinson disease, late-onset|Parkinson disease, sporadic, reduced risk|Parkinson disease.|Parkinsonism, juvenile, autosomal recessive|Parkinsonism, late-onset, association with|Rolandic epilepsy |Parkinson disease, autosomal recessive|Parkinson disease, association with|Parkinson disease with resting leg tremor|Attention deficit hyperactivity disorder |Autism spectrum disorder|Cervical artery dissection|Dementia with Lewy bodies|Developmental delay  |Dystonia, dopa-responsive|Leprosy, association with|Lewy bodies|Lung adenocarcinoma   |Multiple system atrophy, cerebellar subtype|Parkinson disease|Parkinson disease with dementia.|Parkinson disease with Lewy bodies	ICGC,
chr1	196745848	196745848	C	T	intronic	CFHR3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Macular degeneration, age-related, lower risk, association|Haemolytic uraemic syndrome, atypical|C3 glomerulopathy|Blood pressure, association with.	ICGC,
chr15	45563784	45563784	-	AGAA	ncRNA_intronic	LOC101928414	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|2|67|0.02985	-	-	-	-	ICGC,
chr16	62648605	62648605	G	T	intergenic	CDH8,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	integument phenotype,-	Learning disability  |Autism & learning disability ,-	ICGC,
chr17	72499356	72499356	T	G	intergenic	CD300A,CD300LB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,immune system phenotype	-,-	ICGC,
chr22	42123995	42123995	C	A	intronic	MEI1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16569471	-	PACA-CA|1|268|0.00373	-	-	reproductive system phenotype	-	COSMIC,ICGC,
chr20	31221741	31221741	C	T	UTR3	C20orf203	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-	-	ICGC,
chr5	76547860	76547860	T	C	intronic	PDE8B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Striatal degeneration|Adrenocortical hyperplasia|Adrenocortical adenoma|Adrenal tumours|Adrenal hyperplasia	ICGC,
chr7	103464069	103464069	A	T	intronic	RELN	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	integument phenotype	Schizophrenia, association with  |Schizophrenia|Reduced expression|Lissencephaly with cerebellar hypoplasia|Developmental delay & mental retardation|Autism spectrum disorder|Autism	ICGC,
chrX	136549009	136549009	G	A	intergenic	GPR101,ZIC3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Situs abnormality|Heterotaxy|Congenital heart disease |Cardiac malformation	ICGC,
chr5	158176555	158176555	A	G	intronic	EBF1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN220240	-	-	-	-	integument phenotype	-	COSMIC,
chr14	28211428	28211428	A	G	intergenic	LINC00645,FOXG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,integument phenotype	-,West syndrome |Rett-like syndrome|Rett syndrome|Refractory epilepsy & intellectual impairment|Microcephaly, mental retardation & thin genu of corpus callosum|Mental retardation, speech impairment & epilepsy|Mental retardation & speech impairment|Mental retardation & postnatal microcephaly|Mental retardation & callosum abnormalities|Mental retardation|Infantile spasms|Hemifacial microsomia|Generalized dystonia, athetosis and parkinsonism|Developmental delay, microcephaly & hypoplasia of the corpus callosum|Developmental delay, hypotonia, microcephaly & infantile spasms|Developmental delay & slow head growth|Agenesis of corpus callosum	ICGC,
chr3	85368935	85368935	G	T	intronic	CADM2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CN|1|65|0.01538	-	-	-	-	ICGC,
chr8	17060241	17060241	-	AC	intronic	ZDHHC2	unknown	insertion	-	-	-	0.0101	rs766151469	-	-	-	-	COSN27475931	-	-	-	-	-	-	COSMIC,
chr2	231092887	231092887	C	T	intronic	SP140	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chrX	154985255	154985255	A	G	intergenic	TMLHE,SPRY3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27636754	-	NKTL-SG|1|50|0.02000	-	-	-,-	Autism spectrum disorder|Autism and intellectual disability|Autism,Altered meiotic recombination hotspot usage	COSMIC,ICGC,
chr3	24625340	24625340	G	A	intergenic	MIR4792,RARB	unknown	SNV	-	-	-	-	rs571544046	-	0.000199681	-	-	COSN27623549	-	NKTL-SG|1|50|0.02000	-	-	-,mortality/aging	-,Microphthalmia and diaphragmatic hernia|PDAC syndrome	COSMIC,ICGC,
chr8	132323514	132323514	C	T	intergenic	ADCY8,EFR3A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,-	Myocardial infarction  ,Autism|Potential protein deficiency	ICGC,
chr16	6546695	6546695	T	A	intronic	RBFOX1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Muscular and feet abnormalities|Mental retardation|Epilepsy, rolandic  |Epilepsy|Developmental delay, facial dysmorphism  |Developmental delay and transposition of the great arteries|Developmental delay and diplegia|Developmental delay and craniosynostosis|Developmental delay  |Cardiac defects|Cardiac abnormalities, micrognathia and scoliosis|Autism spectrum disorder|Autism|Attention deficit hyperactivity disorder 	ICGC,
chr5	51214973	51214973	C	T	intergenic	ISL1,PELO	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	integument phenotype,mortality/aging	Cardiomyopathy, dilated|Diabetes, type 2|Intellectual and developmental disabilities,-	ICGC,
chr16	15727486	15727486	C	G	exonic	KIAA0430	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM237603	-	-	-	-	reproductive system phenotype	-	COSMIC,
chr22	41413107	41413107	GT	AA	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr2	12839025	12839025	A	-	intergenic	LOC100506457,TRIB2	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,mortality/aging	-,-	ICGC,
chr6	31950545	31950545	C	T	exonic	C4A,C4B,C4B_2	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM5811767	-	LICA-CN|1|402|0.00249	-	-	-,mortality/aging,-	Systemic lupus erythematosus, reduced risk, association|Systemic lupus erythematosus, increased risk, association|Dense deposit disease, increased risk|Complement C4a deficiency|Autoimmune hepatitis, early onset, association,Systemic lupus erythematosus, increased risk|Systemic lupus erythematosus|Rheumatoid arthritis, association with|Increased cortisol concentrations, association with|IgA nephropathy, increased risk|Henoch-Schonlein purpura, association with|Complement C4b deficiency,-	COSMIC,COSMIC,ICGC,
chr9	121364619	121364619	T	C	intergenic	TLR4,BRINP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,-	Phenotypic variation in haemochromatosis, association with|Periodontitis, association with|Pancreatic necrotic infection, association with|Negative association with FMF|Nasopharyngeal cancer, increased risk, association with|Moraxella catarrhalis infection, increased risk, association with|Metabolic syndrome, association with|Meningococcal disease susceptibility|Meningococcal disease mortality|Lung function, association with|Lower left ventricular mass, in hypertensive women, association|Increased risk of cirrhosis in chronic hepatitis C ?|Increased liver and body fat, association with|Potential protein deficiency|Preterm birth and premature rupture of membranes, association with|Tuberculosis susceptibility, in HIV-infected patients, association|Serious infection, in HIV-1 patients, association with|Retinitis pigmentosa |Reduced LPS-induced IL-12 secretion, association with|Reduced expression|Pulmonary tuberculosis, susceptibility and severity, association|Pulmonary tuberculosis, severity, association with|Protection from urinary tract infection, association with|Protection against being overweight|Prostate cancer, increased risk|Prostate cancer risk, association with|Primary open-angle, normal-tension, and exfoliation glaucoma, association with.|Typhoid infection, increased risk, association with|Increased IL-4 secretion response to measles vaccination, association|Cutaneous leishmaniasis, association with|Crohn's disease, association with|Colorectal cancer, association with.|Colorectal cancer risk, association with|Cervical cancer, early stage, association with|Cancer, increased risk, association with|Bronchopulmonary Dysplasia, infant, association with|Breast cancer, association with.|Behcet disease, protection against, association with|Altered monocyte receptor levels|Acute pyelonephritis, reduced risk in adults, association with|Acute pyelonephritis, in children, association with|Diabetes, type 2, protection against, association with|Digestive system cancer, increased risk & prostate cancer, protection against, association with|Emphysema, association with|Increased expression|Helicobacter pylori-related gastric atrophy, association with|HBV recurrence after liver transplantation, association with|Guillain-Barré syndrome, association with|Guillain-Barré syndrome, AMAN sub-type, association with|Gastritis, association with|Gastric carcinoma, association with|Endometriosis, association with|Endotoxin hyporesponsiveness, association with|Extra-intestinal manifestations in Crohn's disease, association with.|Gastric adenocarcinoma, association with|Gastric cancer, association with,-	ICGC,
chr4	43550433	43550433	G	A	intergenic	GRXCR1,KCTD8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,-	Hearing impairment, nonsyndromic, autosomal recessive,-	ICGC,
chr18	63032793	63032793	G	A	intergenic	LOC284294,CDH7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr14	89525106	89525106	G	A	intergenic	TTC8,FOXN3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Bardet-Biedl syndrome ,-	ICGC,
chr11	74005339	74005339	C	T	intronic	P4HA3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr8	51242325	51242325	C	T	intronic	SNTG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Autism|Intellectual disability, cleft palate, hearing loss and dysmorphisms	ICGC,
chr11	20904330	20904330	C	T	intronic	NELL1	unknown	SNV	-	-	-	3.23e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Crohn disease, association with	ICGC,
chr12	23255380	23255380	G	C	intergenic	ETNK1,LOC101928441	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	-,-	-,-	ICGC,
chr3	159311466	159311466	G	A	intronic	IQCJ-SCHIP1,SCHIP1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16078564	-	PACA-CA|1|268|0.00373	-	-	-,mortality/aging	-,-	COSMIC,ICGC,
chr10	67039545	67039545	G	A	intergenic	ANXA2P3,LOC101928913	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr11	73829949	73829949	-	T	intronic	C2CD3	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|3|71|0.04225	-	-	mortality/aging	Autism spectrum disorder  |Potential protein deficiency	ICGC,
chr1	206886144	206886144	G	C	intronic	MAPKAPK2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	mortality/aging	Lung cancer, increased risk, association with|Nasopharyngeal carcinoma, EBV associated, increased risk	ICGC,
chr15	92193219	92193219	A	T	intergenic	LOC101926928,SLCO3A1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21326992	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr19	15570075	15570075	-	TTTATTTATTTATT	intronic	RASAL3	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|2|67|0.02985	-	-	-	-	ICGC,
chr10	74505590	74505590	T	-	intronic	MCU	unknown	deletion	-	-	-	3.261e-05	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-	-	ICGC,
chr10	87727048	87727048	C	T	intronic	GRID1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	skeleton phenotype	Autism spectrum disorder, association with	ICGC,
chr1	4399404	4399404	G	C	intergenic	LINC01346,LOC284661	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	95096638	95096638	G	A	intergenic	LINC00879,MTHFD2P1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr13	108110042	108110042	G	A	intronic	FAM155A	unknown	SNV	-	-	-	3.23e-05	-	-	-	-	-	-	-	SKCA-BR|2|100|0.02000	-	-	-	-	ICGC,
chr11	115925434	115925434	G	A	intergenic	LINC00900,BUD13	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr19	40660182	40660182	G	A	intergenic	ZNF780A,MAP3K10	unknown	SNV	-	-	-	0.0003	rs151097025	-	-	-	-	COSN24804638	-	GACA-CN|1|123|0.00813	-	-	-,mortality/aging	-,-	COSMIC,ICGC,
chr11	48197908	48197908	C	T	intergenic	PTPRJ,OR4B1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5912907	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging,-	Thyroid cancer, risk, association with |Schizophrenia|Heparin-induced thrombocytopaenia, protection against, association with.|Colorectal cancer, increased risk, association with,-	COSMIC,ICGC,
chr2	158280442	158280442	G	A	intronic	CYTIP	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	hematopoietic system phenotype	-	ICGC,
chr4	1067466	1067466	G	A	intronic	RNF212	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	reproductive system phenotype	-	ICGC,
chr5	91109673	91109673	C	T	intergenic	ARRDC3-AS1,NR2F1-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr2	147329783	147329783	C	T	intergenic	TEX41,PABPC1P2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|2|183|0.01093	-	-	-,-	-,-	ICGC,
chr18	23962379	23962379	C	T	intronic	TAF4B	unknown	SNV	-	-	-	3.232e-05	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging	Azoospermia  	ICGC,
chr10	78819227	78819227	C	G	intronic	KCNMA1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15185964	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Hypertension, association with |Generalized epilepsy and paroxysmal dyskinesia|Autism	COSMIC,ICGC,
chr5	98004229	98004229	G	A	intergenic	LINC01340,RGMB	unknown	SNV	-	-	-	0.0494	rs439462	-	0.0345447	-	0.065	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,-	ICGC,
chr1	31426610	31426610	C	A	exonic	PUM1	stopgain	SNV	-	-	-	-	-	-	-	-	-	COSM6566117	-	-	-	-	reproductive system phenotype	-	COSMIC,
chr2	186671465	186671465	G	C	exonic	FSIP2	nonsynonymous	SNV	0.053	-	-	-	-	-	-	-	-	COSM2711277	-	-	-	-	-	-	COSMIC,COSMIC,
chr5	45466162	45466162	C	T	intronic	HCN1	unknown	SNV	-	-	-	0.0033	rs139994424	-	0.0123802	-	0.014	-	-	LAML-KR|1|205|0.00488	-	-	integument phenotype	Idiopathic epilepsy, generalised 	ICGC,
chr2	50673768	50673768	C	T	intronic	NRXN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Hypotonia|Hypotonia & encephalopathy|Increased white matter volume, association with|Intellectual disability  |Intellectual disability & attention deficit hyperactivity disorder|Intellectual disability & hearing loss|Intellectual disability & pervasive developmental disorder|Intellectual disability and autism|Intellectual disability, nonsyndromic |Intellectual disability, seizures, dysmorphisms & language delay|Growth retardation  |Epilepsy, myoclonic seizures & speech delay|Developmental disorder|Developmental disorder & attention deficit hyperactivity disorder|Developmental disorder, seizures & attention deficit hyperactivity disorder|Developmental/intellectual disability, hypotonia & dysmorphic features|Disorder of muscle, ligament & fascia|Encephalopathy  |Epilepsy  |Epilepsy with cognitive impairment / autism spectrum disorder|Epilepsy with focal seizures|Epilepsy, generalised |Intellectual disability, seizures, language delay & hypotonia|Language delay|Learning difficulties|Respiratory distress & sepsis|Respiratory distress syndrome|Schizophrenia |Schizophrenia, childhood onset |Schizophrenia, disorganised type|Seizures, generalized tonic-clonic & attention deficit hyperactivity disorder|Sensory integration disorder & attention deficit hyperactivity disorder|Speech delay & social communication difficulties|Tourette syndrome|Pervasive developmental disorder / hypotonia|Pervasive developmental disorder|Pervasive developmental delay / mental retardation, lack of coordination & hearing loss|Learning difficulties, ADHD & autism|Mental retardation|Mental retardation, autism, vertebral malformations|Mental retardation, Pitt-Hopkins-like|Microcephaly & mental retardation|Multiple congenital anomalies  |Multiple disabilities|Myoclonic epilepsy   |Neurodevelopmental disorder  |Vertebral anomalies|Developmental delay, speech delay & social communication difficulties|Attention deficit hyperactivity disorder |Autism spectrum disorder, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability & language delay|Autism spectrum disorder, intellectual disability, dysmorphisms, developmental delay & language delay|Autism spectrum disorder, intellectual disability, seizures & developmental delay|Autism spectrum disorder, intellectual disability, seizures, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability, seizures, dysmorphisms & language delay|Autism spectrum disorder, seizures, developmental delay & language delay|Autism, intellectual disability & attention deficit hyperactivity disorder|Autistic disorder|Autism spectrum disorder with developmental & speech delay|Autism spectrum disorder & seizures|Autism spectrum disorder & language delay|Autism |Autism & learning difficulties|Autism & mental retardation|Autism & seizures|Autism spectrum disorder|Autism spectrum disorder & attention deficit hyperactivity disorder|Autism spectrum disorder & developmental delay|Autism spectrum disorder & dysmorphic features|Autism spectrum disorder & intellectual disability|Behavioural problems|Congenital heart defect  |Craniofacial dysmorphism|Developmental delay & speech/motor delay|Developmental delay with early-onset epilepsy|Developmental delay, dysmorphic features & short stature|Developmental delay, epilepsy, autism|Developmental delay, language delay & hypotonia|Developmental delay, learning difficulties, ADHD|Developmental delay, microcephaly & behavioural problems|Developmental delay, pulmonic stenosis & autism spectrum disorder|Developmental delay, short stature and diaphragmatic hernia|Developmental delay, speech delay & microcephaly|Developmental delay & seizures|Developmental delay & seizure disorder|Cystic hygroma, hydrops & micrognathia|Cystic hygroma, shortened upper limbs & fetal demise|Developmental & speech delay|Developmental delay|Developmental delay / autism|Developmental delay & autism|Developmental delay & dysmorphic features|Developmental delay & epilepsy|Developmental delay & hypotonia|Developmental delay & multiple congenital anomalies	ICGC,
chr7	143829813	143829813	G	A	intergenic	OR2A14,CTAGE4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	137909375	137909375	A	G	intergenic	LINC00613,PCDH18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-,-	-,Intellectual disability  	ICGC,
chr12	126307863	126307863	G	A	intergenic	TMEM132B,LINC00939	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chrX	143826577	143826577	C	T	intergenic	UBE2NL,SPANXN1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16592090	-	PACA-CA|1|268|0.00373	-	-	-,-	Potential protein deficiency,-	COSMIC,ICGC,
chr3	6112368	6112368	G	A	intergenic	MIR4790,LOC101927347	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr1	207247285	207247285	G	A	UTR3	PFKFB2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr13	43096376	43096376	G	A	intergenic	AKAP11,TNFSF11	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	-,Tetralogy of Fallot|Rheumatoid arthritis, earlier onset, association with|Phenotype modifier, association with |Osteopetrosis, autosomal recessive|Lumbar spine bone mineral density, association with|Bone mineral density in osteoporosis, association with 	ICGC,
chr2	171823275	171823275	G	T	UTR3	GORASP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chrY	9981929	9981929	G	T	intergenic	TTTY23B,NONE	unknown	SNV	-	-	-	-	rs112106279	-	-	-	-	COSN19765314	-	COCA-CN|1|321|0.00312	-	-	-,-	-,-	COSMIC,ICGC,
chr2	122960949	122960949	G	A	intergenic	TSN,CNTNAP5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	hematopoietic system phenotype,-	-,Autism	ICGC,
chr1	22304925	22304925	T	A	exonic	CELA3B	nonsynonymous	SNV	0.447	0.899	-	-	-	-	-	-	-	COSM463984	KIPAN|2|799|0.00250,KIRC|2|451|0.00443	KIRC-US|1|408|0.00245	-	-	-	-	COSMIC,TCGA,ICGC,
chr3	105642774	105642774	-	AAAG	intergenic	CBLB,LINC00882	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	integument phenotype,-	Diabetes, type 1,-	ICGC,
chr9	93510946	93510946	A	G	intergenic	DIRAS2,SYK	unknown	SNV	-	-	-	0.3949	rs1173015	-	0.400958	-	0.080	-	-	LAML-KR|1|205|0.00488	-	-	-,mortality/aging	-,Vascular dementia, association with	ICGC,
chr18	22145487	22145487	C	T	intergenic	HRH4,LOC729950	unknown	SNV	-	-	-	3.276e-05	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	immune system phenotype,-	Atopic dermatitis, increased risk|Systemic lupus erythematosus, increased risk, association with,-	ICGC,
chr13	57007361	57007361	G	T	intergenic	MIR5007,PRR20A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	ICGC,
chr4	29559563	29559563	T	G	intergenic	MIR4275,PCDH7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	ICGC,
chr7	103088800	103088800	C	T	ncRNA_intronic	LOC101927870	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr7	89694183	89694183	A	G	ncRNA_intronic	STEAP2-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23594527	-	ESAD-UK|1|301|0.00332	-	-	-	-	COSMIC,ICGC,
chr3	128070761	128070761	C	T	intronic	EEFSEC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr7	90489673	90489673	T	C	intronic	CDK14	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CN|1|65|0.01538	-	-	-	Potential protein deficiency	ICGC,
chr20	40943597	40943597	G	A	intronic	PTPRT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	homeostasis/metabolism phenotype	Intellectual disability, behavioural problems, microcephaly & cardiac defect|Attention deficit hyperactivity disorder 	ICGC,
chr18	50930810	50930811	AT	-	intronic	DCC	unknown	deletion	-	-	-	-	rs199673805	-	0.276158	-	-	-	-	LINC-JP|1|394|0.00254	-	-	mortality/aging	Altered p53 transactivation|Colorectal cancer, risk, association with |Mirror movements, congenital	ICGC,
chr1	94307719	94307719	T	-	intronic	BCAR3	unknown	deletion	-	-	-	-	-	-	-	-	0.123	-	-	LMS-FR|2|67|0.02985	-	-	vision/eye phenotype	-	ICGC,
chr11	118016190	118016190	A	G	intronic	SCN4B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-	Sudden infant death syndrome  |Long QT syndrome|Atrial fibrillation	ICGC,
chr5	169039253	169039253	A	T	intergenic	SPDL1,DOCK2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,-	ICGC,
chr22	40672589	40672589	T	A	intronic	TNRC6B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	-	-	ICGC,
chr22	43596195	43596195	G	A	intergenic	TTLL12,SCUBE1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,mortality/aging	-,-	ICGC,
chr18	24564170	24564170	G	A	intronic	CHST9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr7	68369122	68369122	C	T	intergenic	LOC102723427,LOC100507468	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr2	200662910	200662910	G	C	ncRNA_intronic	FTCDNL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	-	ICGC,
chr10	117125242	117125242	G	C	intronic	ATRNL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype	Cognitive impairment, autism & dysmorphic features 	ICGC,
chr21	20043399	20043399	A	-	ncRNA_intronic	LOC101927797	unknown	deletion	-	-	-	-	-	-	-	-	-	COSN19426977	-	-	-	-	-	-	COSMIC,
chr6	27298519	27298519	A	G	intergenic	VN1R10P,ZNF204P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr13	65109958	65109958	C	G	intergenic	OR7E156P,PCDH9	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1619337	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr2	128917293	128917293	G	T	exonic	UGGT1	nonsynonymous	SNV	0.229	0.649	4.1e-06	-	rs769456605	8.326e-06	-	-	-	COSM6334692	-	LICA-CN|1|402|0.00249	-	-	-	-	COSMIC,ICGC,
chr4	29992212	29992212	A	T	intergenic	MIR4275,PCDH7	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23467153	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr2	29124371	29124371	T	-	intronic	WDR43	unknown	deletion	-	-	-	-	-	-	-	-	-	COSN26457493	-	LIAD-FR|1|32|0.03125	-	-	-	-	COSMIC,ICGC,
chr5	169800987	169800987	C	T	intronic	KCNIP1	unknown	SNV	-	-	-	0.4283	rs12658067	-	0.467252	-	0.290	COSN14776101	-	LAML-KR|1|205|0.00488	-	-	-	-	COSMIC,ICGC,
chr1	203411920	203411920	C	T	intergenic	FMOD,PRELP	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	-,-	ICGC,
chr20	24036721	24036721	T	C	intergenic	GGTLC1,FLJ33581	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr2	217442216	217442216	-	CTT	intergenic	RPL37A,LINC01280	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr7	108650053	108650053	C	T	intergenic	C7orf66,EIF3IP1	unknown	SNV	-	-	-	9.708e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr9	115694199	115694199	G	A	intergenic	SLC46A2,ZNF883	unknown	SNV	-	-	-	9.709e-05	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	hematopoietic system phenotype,-	-,Potential protein deficiency	ICGC,
chr7	53954853	53954853	C	T	intergenic	LINC01446,HPVC1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr7	63662469	63662469	G	A	intergenic	ZNF727P,ZNF735P	unknown	SNV	-	-	-	0.0641	rs111840355	-	0.0467252	-	0.058	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chrX	116756364	116756364	T	C	intergenic	CT83,KLHL13	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,-	-,Peripheral neuropathy  	ICGC,
chr5	45908541	45908541	A	G	intergenic	HCN1,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,-	Idiopathic epilepsy, generalised ,-	ICGC,
chr19	20137667	20137667	G	A	intronic	ZNF682	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-	-	ICGC,
chr11	55814195	55814195	C	T	intergenic	OR5AS1,OR8I2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr16	83416646	83416646	T	C	intronic	CDH13	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Higher adiponectin levels|Amyotrophic lateral sclerosis 	ICGC,
chr7	7131715	7131715	-	AAACTGGCCAGTTTTGTC	ncRNA_exonic	LOC100131257	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN22893632	-	-	-	-	-	-	COSMIC,
chr8	14431430	14431430	G	T	intronic	SGCZ	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25981187	-	ESAD-UK|1|301|0.00332	-	-	-	Cervical artery dissection	COSMIC,ICGC,
chr14	79560238	79560238	A	-	intronic	NRXN3	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|8|67|0.11940	-	-	mortality/aging	Alcohol dependence, association with|Autism spectrum disorder  	ICGC,
chr6	166347706	166347706	T	C	ncRNA_intronic	LINC00473	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8795924	-	ESAD-UK|1|301|0.00332	-	-	-	-	COSMIC,ICGC,
chrX	120890455	120890455	A	G	intergenic	GLUD2,GRIA3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-AU|1|391|0.00256	-	-	-,integument phenotype	Parkinson disease, earlier onset, association with,Mental retardation, X-linked|Intellectual disability, X-linked with facial dysmorphism|Intellectual disability, X-linked|Autism spectrum disorder	ICGC,
chr8	109606219	109606219	G	A	intergenic	EMC2,TMEM74	unknown	SNV	-	-	-	0.1234	rs58793556	-	0.204473	-	0.239	-	-	ESAD-UK|1|301|0.00332,LAML-KR|2|205|0.00976	-	-	-,-	-,-	ICGC,
chr17	70101378	70101378	G	A	ncRNA_intronic	SOX9-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	CMDI-UK|1|136|0.00735	-	-	-	-	ICGC,
chr19	22725832	22725832	C	T	intergenic	LINC01233,GOLGA2P9	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15530344	-	OV-AU|1|93|0.01075	-	-	-,-	-,-	COSMIC,COSMIC,ICGC,
chr4	162875503	162875503	G	C	intronic	FSTL5	unknown	SNV	-	-	-	0.0009	rs757757989	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	Schizophrenia  |Rolandic epilepsy 	ICGC,
chr11	122847187	122847187	G	A	intergenic	C11orf63,BSX	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	-,-	ICGC,
chr3	75276157	75276157	C	T	intergenic	MIR4444-1,FAM86DP	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr10	84278204	84278204	G	T	intronic	NRG3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19184151	-	CLLE-ES|1|510|0.00196	-	-	integument phenotype	Schizophrenia, association with |Increased ventrolateral PFC activation|Hirschsprung disease  	COSMIC,ICGC,
chr13	105353203	105353203	T	C	intergenic	MIR548AS,DAOA-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2487124	-	-	-	-	-,-	-,-	COSMIC,
chr17	42400583	42400583	G	T	intronic	SLC25A39	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	Autism	ICGC,
chr9	104571552	104571552	G	T	intergenic	GRIN3A,LINC00587	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	vision/eye phenotype,-	Schizophrenia, increased risk |Schizophrenia |Potential protein deficiency,-	ICGC,
chr2	56125108	56125108	G	A	intronic	EFEMP1	unknown	SNV	-	-	-	3.229e-05	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	integument phenotype	Malattia leventinese	ICGC,
chr10	96842606	96842606	G	A	intergenic	CYP2C8,ACSM6	unknown	SNV	-	-	-	3.23e-05	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	-,-	Rhabdomyolysis after cerivastatin treatment|Reduced expression|Potential protein deficiency|Poor paclitaxel metabolism|Poor metaboliser|Increased cerivastatin metabolism|Diabetes, type II, association with|CYP2C8 deficiency|Coronary heart disease, increased risk in smokers, association,-	ICGC,
chr18	63627165	63627165	G	A	intergenic	CDH7,CDH19	unknown	SNV	-	-	-	3.23e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Tetralogy of Fallot	ICGC,
chr5	162704044	162704044	C	T	intergenic	GABRG2,CCNG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,mortality/aging	Seizures, generalized tonic-clonic|Myoclonic epilepsy of infancy |Generalized epilepsy with febrile seizures plus|Febrile seizures|Epilepsy, susceptibility to|Epilepsy, idiopathic generalised  |Epilepsy, childhood absence with febrile seizures|Dravet syndrome,-	ICGC,
chr16	11913843	11913843	G	T	ncRNA_exonic	BCAR4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr14	39522184	39522184	-	A	intronic	SEC23A	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging	Autism spectrum disorder|Cranio-lenticulo-sutural dysplasia	ICGC,
chr14	83726719	83726719	C	T	intergenic	LOC101928559,NONE	unknown	SNV	-	-	-	0.5901	rs2124850	-	0.578275	-	0.558	-	-	LAML-KR|1|205|0.00488	-	-	-,-	-,-	ICGC,
chr11	55745101	55745101	T	G	intergenic	OR10AG1,OR7E5P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr3	70181831	70181831	G	A	intergenic	LINC01212,FOXP1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22979123	-	PAEN-IT|1|37|0.02703	-	-	-,mortality/aging	-,Speech delay, contractures, hypertonia & blepharophimosis|Mental retardation, speech and language deficits|Intellectual disability & autism|Intellectual disability|Delayed speech/motor development & Chiari I malformation|Congenital heart defects|Childhood apraxia of speech|Autism, speech delay and deficit of motor coordination|Autism spectrum disorder  	COSMIC,ICGC,
chr8	68679959	68679959	T	C	intergenic	CPA6,PREX2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,behavior/neurological phenotype	Temporal lobe epilepsy, association with|Temporal lobe epilepsy|Reduced protein expression|Reduced activity|Potential protein deficiency|Febrile seizures|Duane retraction syndrome 1,-	ICGC,
chr5	43587305	43587305	A	C	ncRNA_intronic	NNT-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-	-	ICGC,
chr10	25394846	25394846	G	A	intergenic	ENKUR,LOC101929025	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr16	7115300	7115300	G	C	intronic	RBFOX1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging	Muscular and feet abnormalities|Mental retardation|Epilepsy, rolandic  |Epilepsy|Developmental delay, facial dysmorphism  |Developmental delay and transposition of the great arteries|Developmental delay and diplegia|Developmental delay and craniosynostosis|Developmental delay  |Cardiac defects|Cardiac abnormalities, micrognathia and scoliosis|Autism spectrum disorder|Autism|Attention deficit hyperactivity disorder 	ICGC,
chr2	200125014	200125014	C	T	intergenic	LOC101927619,SATB2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,mortality/aging	-,Toriello-Carey syndrome|Pierre Robin sequence  |Intellectual disability, nonsyndromic|Dentofacial abnormalities|Cleft palate, osteoporosis and cognitive defects|Cleft palate|Autism spectrum disorder	ICGC,
chr8	112005716	112005716	A	G	intergenic	KCNV1,CSMD3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	behavior/neurological phenotype,-	-,Schizophrenia  |Colorectal cancer 	ICGC,
chr3	227826	227826	A	G	intergenic	LOC102723448,CHL1	unknown	SNV	-	-	-	3.23e-05	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,behavior/neurological phenotype	-,Tetralogy of Fallot|Schizophrenia, association with|Potential protein deficiency|Mental retardation & microcephaly |Mental retardation|Learning difficulties, microcephaly and growth retardation|Intellectual disability and epilepsy	ICGC,
chr6	46751619	46751619	C	A	intergenic	ANKRD66,MEP1A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1333806	-	-	-	-	-,reproductive system phenotype	-,Lower sST2 levels, association with	COSMIC,
chr3	178626771	178626771	G	A	intergenic	KCNMB2,ZMAT3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,-	-,-	ICGC,
chr3	21653143	21653143	A	T	intronic	ZNF385D	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr1	203507163	203507163	C	T	intergenic	OPTC,ATP2B4	unknown	SNV	-	-	-	0.5911	rs13303040	-	0.598842	-	0.507	-	-	COCA-CN|1|321|0.00312	-	-	vision/eye phenotype,reproductive system phenotype	Glaucoma, primary open angle, association with|Glaucoma, primary open angle,Schizophrenia  |Autism	ICGC,
chr2	8816513	8816513	G	T	ncRNA_intronic	LOC100506299	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26385850	-	PRAD-UK|1|140|0.00714	-	-	-	-	COSMIC,ICGC,
chr11	90748678	90748678	A	C	intergenic	DISC1FP1,FAT3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23375067	-	MALY-DE|1|241|0.00415	-	-	-,vision/eye phenotype	-,Autism spectrum disorder	COSMIC,ICGC,
chr5	127899825	127899825	C	G	intergenic	FBN2,SLC27A6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging,-	Contractural arachnodactyly|Congenital heart disease ,-	ICGC,
chr16	86631237	86631237	T	A	intergenic	FOXL1,LOC101928708	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	mortality/aging,-	Hypoplastic left heart syndrome,-	ICGC,
chr14	56031891	56031891	T	G	intergenic	TBPL2,KTN1-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	RECA-EU|1|422|0.00237	-	-	reproductive system phenotype,-	-,-	ICGC,
chr14	33904349	33904349	C	A	intronic	NPAS3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27743368	-	NKTL-SG|1|50|0.02000	-	-	mortality/aging	Mental illness|Schizophrenia	COSMIC,ICGC,
chr15	67485177	67485177	G	C	UTR3	SMAD3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	-	Loeys-Dietz_syndrome|Thoracic_aortic_aneurysm_and_aortic_dissection	-	integument phenotype	Thoracic aortic aneurysms and dissections|Osteoarthritis|Hypoplastic left heart syndrome with aortic aneurysm|Aortic aneurysms & dissections with early-onset osteoarthritis|Aneurysms-osteoarthritis syndrome	ClinVar,
chr3	44146509	44146509	T	G	intergenic	ABHD5,MIR138-1	unknown	SNV	-	-	-	3.229e-05	rs147293038	-	0.000399361	-	-	-	-	LAML-KR|1|205|0.00488	-	-	integument phenotype,-	Chanarin-Dorfman syndrome,-	ICGC,
chr2	192149398	192149398	C	T	intronic	MYO1B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr5	138860434	138860434	T	C	exonic	TMEM173	nonsynonymous	SNV	0.0	1.0	-	-	-	-	-	-	-	-	-	-	Sting-associated_vasculopathy,_infantile-onset	-	mortality/aging	Defective IFNbeta stimulation	ClinVar,
chr11	114806880	114806880	G	A	intergenic	NXPE2,CADM1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,hematopoietic system phenotype	-,Autism spectrum disorder	ICGC,
chr21	44483200	44483200	G	A	intronic	CBS	unknown	SNV	-	-	0.0069	0.0072	rs75616587	0.0060	0.00798722	0.0010	-	-	-	LUSC-KR|2|170|0.01176	Homocystinuria|not_specified	-	integument phenotype	Stroke, association with.|Schizophrenia, protection against, association with|Reduced plasma homocysteine levels, association with|Myelomeningocele|Homocystinuria, association with|Homocystinuria|High methylation in males, association with|Coronary artery disease, decreased risk|CBS deficiency|Altered one-carbon metabolism|Altered enzyme activity	ClinVar,ICGC,
chr18	52451650	52451650	G	A	intergenic	DYNAP,RAB27B	unknown	SNV	-	-	-	3.229e-05	rs757406231	-	-	-	-	COSN23137432	-	MALY-DE|1|241|0.00415	-	-	-,integument phenotype	-,-	COSMIC,ICGC,
chr16	89255455	89255455	G	A	intronic	CDH15	unknown	SNV	-	-	-	0.0005	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249,LAML-KR|1|205|0.00488	-	-	normal phenotype	Intellectual disability|Potential protein deficiency	ICGC,
chrX	132083822	132083822	T	C	intronic	HS6ST2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	cellular phenotype	-	ICGC,
chr7	42247830	42247830	A	G	intronic	GLI3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	NKTL-SG|1|50|0.02000	-	-	integument phenotype	Postaxial polydactyly A/B|Postaxial polydactyly B|Preaxial polydactyly|Preaxial polydactyly IV|Preaxial polydactyly IV.|Schizophrenia|Sub-Greig cephalopolysyndactyly syndrome|Sub-Pallister-Hall syndrome|Talipes equinovarus, congential idiopathic, association with |Tooth agenesis, association with|Postaxial polydactyly A |Pallister-Hall syndrome with genital abnormalities|Acrocallosal syndrome|Broad thumbs, postaxial polydactyly & variable syndactyly of hands/feet|Digital anomalies|Greig cephalopolysyndactyly syndrome|Greig cephalopolysyndactyly syndrome & cerebral cavernous malformations|Greig cephalopolysyndactyly syndrome with MODY2|Hypodontia, non-syndromic, association with.|Metopic craniosynostosis|Oral-facial-digital syndrome|Pallister-Hall syndrome	ICGC,
chr5	9301621	9301621	C	A	intronic	SEMA5A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging	Double outlet right ventricle	ICGC,
chr12	45782055	45782055	G	T	exonic	ANO6	nonsynonymous	SNV	0.029	1.0	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	hematopoietic system phenotype	Scott syndrome	ICGC,
chr16	17532394	17532394	T	A	intronic	XYLT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-	Decreased serum glycosaminoglycan levels, association with|Desbuquois dysplasia type 2|Diabetes, type 1, protection, association |Diabetic nephropathy protection |Increased serum XT1 activity in pseudoxanthoma elasticum, association|Short stature & intellectual disability	ICGC,
chr11	92727689	92727689	C	A	intergenic	MTNR1B,SLC36A4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25856936	-	EOPC-DE|1|202|0.00495	-	-	normal phenotype,-	Increased fasting glucose  & descreased HOMA-B, association with|Increased body mass/decreased fasting plasma glucose, association with|Impaired Gi protein-dependent signalling|Diabetes, type 2, increased risk, association with |Diabetes, type 2, association with|Diabetes, type 2 |Diabetes mellitus, gestational, association with|Altered receptor function  |Adolescent idiopathic scoliosis, association with ,-	COSMIC,ICGC,
chr7	56383984	56383984	G	A	intergenic	NUPR1L,LOC650226	unknown	SNV	-	-	-	-	rs531885797	-	0.000199681	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	ICGC,
chr13	114586506	114586506	C	A	intergenic	GAS6-AS2,LINC00452	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17929161	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	COSMIC,ICGC,
chr17	69121712	69121712	A	G	ncRNA_intronic	CASC17	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-	-	ICGC,
chr21	29119627	29119627	T	G	ncRNA_intronic	LINC00113,MIR5009	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21244330	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr1	237102949	237102949	T	C	intergenic	MTR,MT1HL1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8449629	-	OV-AU|1|93|0.01075	-	-	mortality/aging,-	Bladder cancer, increased risk, association with|Spina bifida, increased risk in offspring, association|Reduced plasma homocysteine levels, association with|Ovarian cancer, association with.|Micronucleated lymphocytes, increased frequency, association with|Methionine synthase deficiency|Longer telomere length, association with|Leukemia risk|Homocystinuria.|Homocystinuria|Glioblastoma, association with|Coronary artery disease in smokers, association|Colorectal cancer, increased risk, association with,-	COSMIC,ICGC,
chr3	111668946	111668946	T	A	intronic	PHLDB2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5035490	-	LINC-JP|1|394|0.00254	-	-	-	-	COSMIC,ICGC,
chr3	51507108	51507108	C	T	intronic	VPRBP	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15030949	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	-	COSMIC,ICGC,
chr3	18147911	18147911	G	A	intronic	LOC339862	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr5	157685333	157685333	C	T	intergenic	CLINT1,LOC101927697	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	-,-	-,-	ICGC,
chr18	35082915	35082915	CC	TT	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr5	62131624	62131624	C	T	intergenic	IPO11,HTR1A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Tourette syndrome |Reduced expression|Personality disorders, association with.|Menstrual cycle-dependent fever|Major depression and suicide, association with|Major depression|Impulsive behaviour, association with|Epileptic seizures |Comorbid depression and generalized anxiety, association with|Attenuated agonist-mediated receptor down-regulation and desensitization	ICGC,
chr10	18780733	18780733	G	A	intronic	CACNB2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	mortality/aging	Schizophrenia  |Rapid ventricular tachycardia & intraventricular conduction delay|Early repolarization syndrome|Cardiac arrhythmia|Brugada syndrome (shorter-than-normal QT interval)|Brugada syndrome|Aortic regurgutation|Altered function|Ventricular fibrillation, idiopathic	ICGC,
chrX	135648922	135648922	C	T	intergenic	VGLL1,LINC00892	unknown	SNV	-	-	-	4.621e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr19	18994943	18994943	G	A	exonic	CERS1	synonymous	SNV	-	-	1.235e-05	-	rs368888491	8.728e-06	-	-	-	COSM3530904	SKCM|1|368|0.00272	SKCM-US|1|335|0.00299	-	-	mortality/aging	-	COSMIC,COSMIC,TCGA,ICGC,
chr3	192446665	192446665	G	A	intergenic	FGF12,MB21D2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	behavior/neurological phenotype,-	-,-	ICGC,
chr4	58651153	58651153	G	A	intergenic	IGFBP7-AS1,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr21	18642282	18642282	G	A	intergenic	LINC00478,C21orf37	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN18842881	-	-	-	-	-,-	-,-	COSMIC,
chr5	71077611	71077611	-	T	intergenic	CARTPT,MAP1B	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN14730576	-	-	-	-	hematopoietic system phenotype,integument phenotype	Obesity, association with |Obesity, severe,-	COSMIC,
chr9	136582554	136582554	G	T	exonic	SARDH	synonymous	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	Sarcosinemia	ICGC,
chr18	36023956	36023956	G	A	intergenic	MIR4318,LINC00669	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	ICGC,
chr8	105394078	105394078	-	CACACAC	intronic	DPYS	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|2|67|0.02985	-	-	-	Dihydropyramidinase deficiency	ICGC,
chr5	172284162	172284162	G	A	intronic	ERGIC1	unknown	SNV	-	-	-	0.3311	rs61584757	-	0.286342	-	0.362	-	-	ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488	-	-	-	-	ICGC,
chr7	136120469	136120469	A	G	intergenic	LUZP6,CHRM2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,integument phenotype	-,Reduced expression|Major depression in women, association with|Cardiomyopathy, dilated	ICGC,
chr1	56213018	56213018	C	T	intergenic	MIR4422,PPAP2B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,-	ICGC,
chr19	55726216	55726219	CAAA	-	intergenic	PTPRH,TMEM86B	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	PAEN-AU|1|52|0.01923	-	-	digestive/alimentary phenotype,-	-,-	ICGC,
chr13	56596968	56596968	G	C	intergenic	MIR5007,PRR20A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	13544661	13544661	A	T	intergenic	LINC01194,DNAH5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15621683	-	BOCA-UK|1|130|0.00769	-	-	-,mortality/aging	-,Asthenozoospermia |Autism |Chronic rhinosinusitis and primary ciliary dyskinesia|Potential protein deficiency|Primary ciliary dyskinesia	COSMIC,ICGC,
chr13	51929324	51929324	G	T	intronic	SERPINE3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr22	22025285	22025309	GTCCTTTTTCAGTCTCTCTCTGCAG	-	exonic	PPIL2	nonframeshift	deletion	-	-	-	-	-	-	-	-	-	-	LIHC|1|373|0.00268	-	-	-	-	-	TCGA,
chr14	49745445	49745445	G	A	intergenic	LINC00648,RPS29	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr10	68301697	68301697	G	A	intronic	CTNNA3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Tourette syndrome |Sinus venosus atrial septal defect|Neural tube defects|Cervical artery dissection|Autism spectrum disorder |Attention deficit hyperactivity disorder |Arrhythmogenic right ventricular cardiomyopathy|Alzheimer disease, increased risk, association with |Adenocarcinoma	ICGC,
chr17	2881433	2881433	C	A	intronic	RAP1GAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-UK|1|140|0.00714	-	-	-	-	ICGC,
chr5	116630231	116630231	A	T	intergenic	LOC102467223,LINC00992	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	203743277	203743277	C	A	exonic	LAX1	nonsynonymous	SNV	0.009	0.018	-	-	-	-	-	-	-	-	LUAD|1|543|0.00184	-	-	-	hematopoietic system phenotype	-	TCGA,
chr2	162160200	162160200	T	-	intergenic	LOC101929512,PSMD14	unknown	deletion	-	-	-	0.0027	-	-	-	-	-	-	-	OV-AU|1|93|0.01075	-	-	-,-	-,-	ICGC,
chr19	20023739	20023739	A	G	intronic	ZNF93	unknown	SNV	-	-	-	0.0460	rs78374667	-	0.0978435	-	0.072	-	-	LAML-KR|1|205|0.00488	-	-	-	-	ICGC,
chr13	78469212	78469212	G	A	ncRNA_intronic	EDNRB-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-	-	ICGC,
chr2	76091496	76091496	T	C	intergenic	GCFC2,LRRTM4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr10	110908772	110908772	C	A	intergenic	SORCS1,RNU6-53P	unknown	SNV	-	-	-	0.1481	rs12764755	-	0.156949	-	0.152	-	-	ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488	-	-	other phenotype,-	Autism ,-	ICGC,
chr18	2536268	2536268	T	G	intergenic	LINC00470,METTL4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9835769	-	RECA-EU|1|422|0.00237	-	-	-,-	-,-	COSMIC,ICGC,
chr8	127726599	127726599	C	T	intergenic	FAM84B,PCAT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	-,Prostate cancer risk, association with	ICGC,
chr2	199047895	199047895	G	T	intergenic	PLCL1,LOC101927619	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging,-	-,-	ICGC,
chr18	5767519	5767519	G	A	ncRNA_intronic	LOC645355	unknown	SNV	-	-	-	0.0001	rs546388878	-	0.00519169	-	0.007	COSN16895955	-	PACA-CA|1|268|0.00373	-	-	-	-	COSMIC,ICGC,
chr4	37236207	37236207	G	T	intergenic	DTHD1,MIR4801	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15216951	-	ESAD-UK|1|301|0.00332	-	-	-,-	Leber congenital amaurosis with myopathy,-	COSMIC,ICGC,
chr12	61311601	61311601	T	C	intergenic	SLC16A7,FAM19A2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	Autism spectrum disorder,-	ICGC,
chr2	239150921	239150921	A	-	intergenic	HES6,PER2	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,integument phenotype	Increased expression|Decreased expression,Winter depression, association with|Reduced alcohol consumption, association with|Familial advanced sleep phase syndrome|Diurnal preference traits, association with 	ICGC,
chr3	113496418	113496418	A	C	intronic	ATP6V1A	unknown	SNV	-	-	-	0.3795	rs2603793	-	0.316893	-	0.268	-	-	LAML-KR|1|205|0.00488	-	-	-	-	ICGC,
chr7	27185319	27185319	C	T	exonic	HOXA6	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM3027222	STAD|1|395|0.00253,STES|1|395|0.00253	STAD-US|1|289|0.00346	-	-	skeleton phenotype	-	COSMIC,TCGA,ICGC,
chr1	95550401	95550401	T	A	intergenic	ALG14,TMEM56	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25061617	-	MALY-DE|1|241|0.00415	-	-	-,-	Congenital myasthenic syndrome  ,-	COSMIC,ICGC,
chr9	105133496	105133496	G	A	intergenic	GRIN3A,LINC00587	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BOCA-UK|1|130|0.00769	-	-	vision/eye phenotype,-	Schizophrenia, increased risk |Schizophrenia |Potential protein deficiency,-	ICGC,
chr18	76556080	76556080	C	T	intergenic	LINC01029,SALL3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,mortality/aging	-,-	ICGC,
chr14	24824377	24824377	C	T	intergenic	RIPK3,NFATC4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,mortality/aging	Potential protein deficiency,Endurance-related phenotypes, association with|Cardiac hypertrophy, protection, association 	ICGC,
chr9	28044784	28044784	C	G	intronic	LINGO2	unknown	SNV	-	-	-	0.0339	rs202180650	-	0.063099	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	Autism spectrum disorder  |Developmental delay with absent speech	ICGC,
chr4	139771978	139771978	C	T	intergenic	LINC00499,CCRN4L	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,growth/size phenotype	-,-	ICGC,
chr8	2359510	2359510	G	A	intergenic	MYOM2,CSMD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Schizophrenia, association with |Hyperinsulinism|Autism|Attention deficit hyperactivity disorder 	ICGC,
chr11	4288422	4288422	G	T	intergenic	LOC100506082,OR52B4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24028854	-	BRCA-FR|1|72|0.01389	-	-	-,-	-,Potential protein deficiency	COSMIC,ICGC,
chr16	24029425	24029425	T	C	intronic	PRKCB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	hematopoietic system phenotype	Reduced promoter activity	ICGC,
chr9	118984171	118984171	G	A	intronic	PAPPA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	skeleton phenotype	-	ICGC,
chr12	33354218	33354218	C	T	intergenic	PKP2,SYT10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,behavior/neurological phenotype	Sudden cardiac death  |Potential protein deficiency|Cardiomyopathy, dilated|Cardiomyopathy, arrhythmogenic, left-dominant|Cardiomyopathy, arrhythmogenic right ventricular|Brugada syndrome    |Arrhythmogenic right ventricular dysplasia/cardiomyopathy.|Arrhythmogenic right ventricular dysplasia/cardiomyopathy|Arrhythmogenic right ventricular dysplasia|Arrhythmogenic right ventricular cardiomyopathy.|Arrhythmogenic right ventricular cardiomyopathy, asymptomatic|Arrhythmogenic right ventricular cardiomyopathy|Sudden unexpected death with negative autopsy,-	ICGC,
chr21	41621239	41621239	G	A	intronic	DSCAM	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8007773	-	PACA-CA|1|268|0.00373	-	-	mortality/aging	Bipolar disorder, association with 	COSMIC,COSMIC,COSMIC,ICGC,
chr7	56413890	56413890	G	A	intergenic	NUPR1L,LOC650226	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr9	128884706	128884706	-	T	intergenic	PBX3,LOC101929116	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	integument phenotype,-	Congenital heart defects,-	ICGC,
chr15	42143914	42143914	C	A	intronic	SPTBN5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5266640	-	-	-	-	-	Schizophrenia|Potential protein deficiency|Autism spectrum disorder	COSMIC,
chr16	28131217	28131217	C	T	intronic	XPO6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chrX	143160942	143160942	C	T	intergenic	UBE2NL,SPANXN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Potential protein deficiency,-	ICGC,
chr17	80890227	80890227	G	A	intronic	TBCD	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr3	187653383	187653383	T	G	intergenic	BCL6,LPP-AS2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25331907	-	MALY-DE|1|241|0.00415	-	-	mortality/aging,-	-,-	COSMIC,ICGC,
chr5	39533091	39533091	T	C	intergenic	LOC101926940,LINC00603	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	56085350	56085350	G	A	intergenic	MIR4422,PPAP2B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,-	ICGC,
chr1	96613157	96613157	T	A	intergenic	LOC100996635,LOC101928241	unknown	SNV	-	-	-	6.455e-05	rs566348002	-	0.000998403	-	-	-	-	UTCA-FR|1|20|0.05000	-	-	-,-	-,-	ICGC,
chr14	101918439	101918439	C	T	intergenic	MEG9,DIO3OS	unknown	SNV	-	-	-	0.0010	rs529736579	-	0.00119808	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr7	62328789	62328789	C	T	intergenic	NONE,ZNF733P	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19054599	-	CLLE-ES|1|510|0.00196	-	-	-,-	-,-	COSMIC,ICGC,
chr9	73050432	73050432	C	T	intergenic	KLF9,TRPM3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	behavior/neurological phenotype,integument phenotype	-,Schizophrenia  |Mental retardation	ICGC,
chr5	162841935	162841935	G	C	intergenic	GABRG2,CCNG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,mortality/aging	Seizures, generalized tonic-clonic|Myoclonic epilepsy of infancy |Generalized epilepsy with febrile seizures plus|Febrile seizures|Epilepsy, susceptibility to|Epilepsy, idiopathic generalised  |Epilepsy, childhood absence with febrile seizures|Dravet syndrome,-	ICGC,
chr1	204626262	204626262	G	A	intronic	LRRN2	unknown	SNV	-	-	-	0.0007	rs185664672	-	0.000399361	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	behavior/neurological phenotype	-	ICGC,
chrX	136221711	136221711	G	A	intergenic	GPR101,ZIC3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,Situs abnormality|Heterotaxy|Congenital heart disease |Cardiac malformation	ICGC,
chr13	105584250	105584250	G	A	intergenic	MIR548AS,DAOA-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr7	36751809	36751809	G	A	intronic	AOAH	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27961212	-	PRAD-CA|1|308|0.00325,SKCA-BR|1|100|0.01000	-	-	immune system phenotype	Colorectal cancer, increased risk, association with	COSMIC,ICGC,
chr15	24780958	24780958	-	ACT	intergenic	PWRN2,PWRN1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr1	164505694	164505694	C	T	intergenic	LOC100422212,PBX1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Schizophrenia	ICGC,
chr10	15014440	15014440	A	G	intronic	MEIG1	unknown	SNV	-	-	-	0.6555	rs1935399	-	0.639577	-	0.645	COSN163564	-	LAML-KR|1|205|0.00488,LUSC-KR|1|170|0.00588	-	-	-	-	COSMIC,ICGC,
chr7	46659948	46659948	T	G	intergenic	IGFBP3,TNS3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8302646	-	PACA-CA|1|268|0.00373	-	-	behavior/neurological phenotype,mortality/aging	Prostate cancer, increased risk|Plasma IGFBP-3 levels, association with|Pancreatic cancer, clinical outcome, association with|Lung cancer, increased risk, association with|Increased IGFBP-3 levels, association with|IGFBP-3 levels|Higher promoter activity, association with|Drug response, association with|Decreased IGFBP-3 levels, association with|Colorectal cancer, association with,Renal agenesis, pulmonary infections & growth/developmental delay	COSMIC,ICGC,
chr21	22065219	22065219	T	G	intergenic	LOC101927797,LINC00320	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr18	50046279	50046279	G	A	intronic	DCC	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9337317	-	OV-AU|1|93|0.01075	-	-	mortality/aging	Altered p53 transactivation|Colorectal cancer, risk, association with |Mirror movements, congenital	COSMIC,ICGC,
chr6	166853513	166853513	C	T	intronic	RPS6KA2	unknown	SNV	-	-	-	0.2283	rs9355580	-	0.171526	-	0.210	-	-	ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488	-	-	-	-	ICGC,
chrX	10078024	10078024	G	A	exonic	WWC3	nonsynonymous	SNV	0.085	0.998	1.766e-05	-	rs749624484	2.709e-05	-	-	-	COSM6823533	-	-	-	-	-	Autism spectrum disorder	COSMIC,COSMIC,
chr4	69947494	69947494	G	A	intergenic	UGT2B10,UGT2B7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Autism|Lower nicotine consumption in smokers|Potential protein deficiency|Reduced enzyme activity,Altered mRNA expression|Altered promoter activity|Bladder cancer in benzidine-exposed workers, association with|Reduced binding capacity	ICGC,
chr2	140271264	140271264	C	T	intergenic	YY1P2,LRP1B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,Schizophrenia   	ICGC,
chr9	35045745	35045745	C	T	exonic	C9orf131	nonsynonymous	SNV	0.151	0.539	4.061e-06	-	rs750126558	8.238e-06	-	-	-	COSM6616807	-	-	-	-	-	-	COSMIC,COSMIC,
chr7	52783508	52783508	G	A	intergenic	COBL,POM121L12	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	nervous system phenotype,-	-,-	ICGC,
chr7	32437014	32437014	G	T	intergenic	PDE1C,LOC100130673	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	taste/olfaction phenotype,-	Developmental delay  ,-	ICGC,
chr3	36588380	36588380	C	T	UTR3	STAC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr1	214557424	214557424	C	T	exonic	PTPN14	nonsynonymous	SNV	1.0	0.961	0.0002	9.71e-05	rs144384423	0.0003	-	0.0005	-	COSM5005701	-	-	-	-	vision/eye phenotype	Choanal atresia/lymphedema syndrome	COSMIC,
chr8	19269736	19269736	A	G	intronic	CSGALNACT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-UK|1|141|0.00709	-	-	mortality/aging	Neuropathy, hereditary motor and sensory  |Hemi-facial palsy 	ICGC,
chrX	61792413	61792413	G	T	intergenic	NONE,SPIN4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr1	89803660	89803660	T	C	intergenic	LOC729930,GBP6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	ICGC,
chr4	49120454	49120454	T	A	intergenic	CWH43,NONE	unknown	SNV	-	-	-	-	rs368070980	-	-	-	-	-	-	LUSC-KR|2|170|0.01176	-	-	-,-	-,-	ICGC,
chr7	139590795	139590795	C	T	intronic	TBXAS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype	Stroke recurrence, association with |Myocardial infarction, association with|Ghosal hematodiaphyseal dysplasia|Altered catalytic activity 	ICGC,
chr20	55453832	55453832	C	T	intergenic	TFAP2C,BMP7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,integument phenotype	-,Hypospadias|Eye / skeletal anomalies	ICGC,
chr10	88712313	88712313	C	T	intronic	MMRN2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5887895	-	LIRI-JP|1|258|0.00388	-	-	-	Autism	COSMIC,ICGC,
chr7	158485783	158485783	A	G	intronic	NCAPG2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24374862	-	-	-	-	mortality/aging	Microcephaly & mental retardation	COSMIC,
chr8	30802699	30802699	C	T	intergenic	TEX15,PURG	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	reproductive system phenotype,-	Schizophrenia,-	ICGC,
chrX	28193618	28193618	C	T	intergenic	DCAF8L1,MIR6134	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr6	120013679	120013679	C	T	intergenic	LOC285762,TBC1D32	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Oro-facio-digital syndrome type IX	ICGC,
chr21	20094862	20094862	G	T	ncRNA_intronic	LOC101927797	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr14	43377616	43377616	T	G	intergenic	LRFN5,FSCB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	Short stature|Developmental delay, seizures & learning problems ,Tourette syndrome 	ICGC,
chr6	113723746	113723746	A	T	intergenic	RFPL4B,MARCKS	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,mortality/aging	-,-	ICGC,
chr5	178828803	178828803	GG	AA	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr5	168278022	168278022	C	A	intronic	SLIT3	unknown	SNV	-	-	-	0.0004	-	-	-	-	-	COSN15101261	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Schizophrenia  |Major depressive disorder |Autism spectrum disorder	COSMIC,ICGC,
chr5	151259880	151259880	G	A	intronic	GLRA1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging	Hyperekplexia and mental retardation|Hyperekplexia	ICGC,
chr15	65115866	65115866	G	T	intronic	PIF1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	cellular phenotype	Breast cancer  |Multiple sessile serrated adenoma	ICGC,
chr3	102483906	102483906	G	A	intergenic	ZPLD1,MIR548A3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Cerebral cavernous malformations,-	ICGC,
chr17	61001065	61001065	G	A	ncRNA_intronic	MIR548W	unknown	SNV	-	-	-	0.0822	rs1548740	-	0.10623	-	0.145	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr7	62374684	62374684	C	G	intergenic	NONE,ZNF733P	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20886662	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chrX	64260467	64260467	G	C	intergenic	ZC4H2,ZC3H12B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22334500	-	BRCA-EU|1|569|0.00176	-	-	-,-	Arthrogryposis multiplex congenita and intellectual disability,Autism spectrum disorder	COSMIC,ICGC,
chr5	43564549	43564549	A	T	intergenic	PAIP1,NNT-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21827935	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr8	18142572	18142572	G	A	intergenic	NAT1,NAT2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	vision/eye phenotype,reproductive system phenotype	Spina bifida protection, association with|Slow acetylation|Reduced catalytic activity|Increased activity|Breast cancer, increased risk|Breast cancer, association with,Thyroid cancer, increased risk|Slow acetylation, association with|Slow acetylation|Inflammatory bowel disease, association with|Head and neck cancer, reduced risk|Head and neck cancer|Colorectal cancer, reduced risk, association with|Atopic asthma, association with	ICGC,
chr7	146744207	146744207	T	C	intronic	CNTNAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	integument phenotype	Gilles de la Tourette syndrome|Intellectual disability  |Learning disability & speech problems|Mental retardation |Mental retardation, Pitt-Hopkins-like|Multiple congenital anomalies  |Seizures, neonatal |Speech delay  |Stuttering |Epileptic encephalopathy  |Epilepsy and schizophrenia|Autism|Autism spectrum disorder |Autism spectrum disorder, modifier of|Childhood apraxia of speech|Cortical dysplasia-focal epilepsy syndrome|Developmental and/or speech and/or behavioural problems|Developmental delay  |Developmental delay & dysmorphic features|Dyslexia 	ICGC,
chr13	81902433	81902433	C	T	intergenic	SPRY2,NONE	unknown	SNV	-	-	-	0.6113	rs1146966	-	0.597843	-	0.652	-	-	ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488	-	-	mortality/aging,-	Cleft lip ,-	ICGC,
chr6	7769435	7769435	G	C	intronic	BMP6	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9807768	-	OV-AU|1|93|0.01075	-	-	skeleton phenotype	-	COSMIC,ICGC,
chr2	186917670	186917670	G	A	ncRNA_intronic	LOC101927217	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-	-	ICGC,
chrX	98018708	98018708	G	A	intergenic	DIAPH2,XRCC6P5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	cardiovascular system phenotype,-	Premature ovarian failure,-	ICGC,
chr8	14960930	14960930	-	TATAAAAA	intronic	SGCZ	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	Cervical artery dissection	ICGC,
chr4	2490557	2490557	-	ATT	intronic	RNF4	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|5|67|0.07463	-	-	mortality/aging	-	ICGC,
chr13	78845254	78845254	T	C	ncRNA_intronic	RNF219-AS1	unknown	SNV	-	-	-	0.0004	rs566576381	-	0.000199681	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	-	ICGC,
chr3	70041178	70041178	G	A	intergenic	MITF,LINC01212	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5149635	-	BRCA-UK|1|141|0.00709,BRCA-EU|1|569|0.00176	-	-	integument phenotype,-	Waardenburg syndrome 2A|Waardenburg syndrome 2.|Waardenburg syndrome 2|Waardenburg syndrome|Tietz/Waardenburg type 2A-like syndrome|Tietz syndrome|Reduced expression|Melanoma / renal cell carcinoma, association with|Melanoma,-	COSMIC,COSMIC,ICGC,
chr7	14825229	14825229	G	A	intronic	DGKB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	-	ICGC,
chr17	12975703	12975703	C	T	intergenic	ELAC2,HS3ST3A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Prostate cancer, association with|Prostate cancer|Hypertrophic cardiomyopathy and complex I deficiency|Benign prostatic hyperplasia, association with,-	ICGC,
chr2	74753717	74753717	G	A	downstream	DQX1	unknown	SNV	-	-	-	6.461e-05	-	-	-	-	-	COSN26436267	-	COCA-CN|1|321|0.00312	-	-	-	-	COSMIC,ICGC,
chr11	21450322	21450322	A	G	intronic	NELL1	unknown	SNV	-	-	-	3.23e-05	-	-	-	-	-	-	-	LINC-JP|1|394|0.00254	-	-	mortality/aging	Crohn disease, association with	ICGC,
chr5	123370988	123370988	-	A	intergenic	CSNK1G3,ZNF608	unknown	insertion	-	-	-	3.232e-05	-	-	-	-	-	COSN27897117	-	PRAD-CA|1|308|0.00325	-	-	-,-	Potential protein deficiency,-	COSMIC,ICGC,
chr8	56442722	56442722	G	-	intergenic	XKR4,TMEM68	unknown	deletion	-	-	-	3.796e-05	-	-	-	-	-	-	LUAD|1|543|0.00184	-	-	-	-,integument phenotype	Glaucoma, primary congenital,-	TCGA,
chr16	23608095	23608095	A	G	upstream	NDUFAB1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN14865116	-	ESAD-UK|1|301|0.00332	-	-	-	-	COSMIC,ICGC,
chr8	51928949	51928949	A	G	intergenic	SNTG1,PXDNL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Autism|Intellectual disability, cleft palate, hearing loss and dysmorphisms,-	ICGC,
chr8	57691897	57691897	G	A	intergenic	LINC00968,IMPAD1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20988877	-	BRCA-EU|1|569|0.00176	-	-	-,mortality/aging	-,Catel-Manzke-like syndrome|Chondrodysplasia & abnormal joint development	COSMIC,ICGC,
chrX	42945180	42945180	A	G	intergenic	PPP1R2P9,LOC101927501	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9882806	-	RECA-EU|1|422|0.00237	-	-	-,-	-,-	COSMIC,ICGC,
chr13	57823119	57823119	G	A	intergenic	PRR20A,PCDH17	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20158369	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	COSMIC,ICGC,
chrX	109522282	109522282	G	A	intronic	AMMECR1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	endocrine/exocrine gland phenotype	-	ICGC,
chr5	46121716	46121716	C	T	intergenic	HCN1,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	integument phenotype,-	Idiopathic epilepsy, generalised ,-	ICGC,
chr14	19043221	19043221	G	C	intergenic	NONE,OR11H12	unknown	SNV	-	-	-	0.0046	rs866328624	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr5	118122869	118122869	G	C	intergenic	LOC102467225,DTWD2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20532946	-	COCA-CN|1|321|0.00312	-	-	-,-	-,-	COSMIC,ICGC,
chr3	124340858	124340858	G	A	intronic	KALRN	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	Potential protein deficiency|Schizophrenia, association with  	ICGC,
chr1	792723	792723	C	T	ncRNA_exonic	LINC01128	unknown	SNV	-	-	-	0.0003	rs559504714	-	0.000399361	-	-	-	-	PBCA-US|2|186|0.01075	-	-	-	-	ICGC,
chrX	98428965	98428965	G	A	intergenic	DIAPH2,XRCC6P5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	cardiovascular system phenotype,-	Premature ovarian failure,-	ICGC,
chr4	76710447	76710447	-	GAT	intronic	USO1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	-	ICGC,
chr2	119491540	119491540	T	C	intergenic	LOC101927709,EN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	-,-	ICGC,
chr7	120779447	120779447	-	T	intronic	CPED1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|3|71|0.04225	-	-	-	-	ICGC,
chr3	81142878	81142878	C	A	intergenic	ROBO1,GBE1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22234486	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging,mortality/aging	Developmental dyslexia ,Potential protein deficiency|Polyglucosan body disease, relapsing-remitting form|Polyglucosan body disease, adult|Lethal multiple pterygium syndrome|Glycogen storage disease 4, non-lethal neuromuscular|Glycogen storage disease 4, neonatal|Glycogen storage disease 4|Autism spectrum disorder|Adult polyglucosan body disease	COSMIC,ICGC,
chr8	124664172	124664172	C	T	exonic	KLHL38	nonsynonymous	SNV	0.117	0.927	7.319e-05	6.458e-05	rs368547076	6.625e-05	-	8.1e-05	-	COSM1454672	COAD|1|367|0.00272,COADREAD|1|489|0.00204	COAD-US|1|254|0.00394	-	-	-	-	COSMIC,TCGA,ICGC,
chr8	39366812	39366812	G	A	ncRNA_intronic	ADAM3A	unknown	SNV	-	-	-	0.2733	rs7006474	-	0.282947	-	0.341	-	-	LAML-KR|1|205|0.00488	-	-	reproductive system phenotype	-	ICGC,
chr4	140107080	140107080	T	A	intergenic	ELF2,MGARP	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr9	94411569	94411569	G	A	intergenic	MIR3910-1,ROR2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Robinow syndrome, recessive with brachydactyly type B|Robinow syndrome, autosomal recessive|Robinow syndrome|Brachydactyly, type B	ICGC,
chr7	100652736	100652736	G	A	intronic	MUC12	unknown	SNV	-	-	-	3.231e-05	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr8	62009240	62009240	C	G	intergenic	LOC100130298,CLVS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23288427	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	COSMIC,ICGC,
chr2	170474514	170474514	C	A	intronic	PPIG	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23816267	-	ORCA-IN|1|178|0.00562	-	-	-	Leukemia, risk, association with 	COSMIC,ICGC,
chr6	29626663	29626663	C	T	intronic	MOG	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538,PBCA-DE|1|499|0.00200	-	-	hematopoietic system phenotype	Multiple sclerosis, association with|Narcolepsy with cataplexy	ICGC,
chr3	105492161	105492161	A	G	intronic	CBLB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	integument phenotype	Diabetes, type 1	ICGC,
chr10	55587355	55587355	A	G	intronic	PCDH15	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-JP|1|585|0.00171	-	-	vision/eye phenotype	Usher syndrome II|Usher syndrome 1f|Usher syndrome 1|Lipid levels in hyperlipidaemia, association with|Hearing loss, non-syndromic|Deafness, non-syndromic, autosomal recessive|Deafness, non-syndromic |Deafness  	ICGC,
chr2	104122540	104122540	G	A	intergenic	TMEM182,LOC100287010	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr8	6065750	6065750	C	T	intergenic	CSMD1,LOC100287015	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27168477	-	ESAD-UK|1|301|0.00332	-	-	-,-	Schizophrenia, association with |Hyperinsulinism|Autism|Attention deficit hyperactivity disorder ,-	COSMIC,ICGC,
chr12	122040217	122040220	GTTT	-	intergenic	KDM2B,ORAI1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|2|67|0.02985	-	-	mortality/aging,integument phenotype	Potential protein deficiency,Atopic dermatitis, association with|Severe combined immune deficiency syndrome|Tubular myopathy & miosis	ICGC,
chr2	62568440	62568440	G	C	intergenic	B3GNT2,TMEM17	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5508331	-	LIRI-JP|1|258|0.00388	-	-	hematopoietic system phenotype,-	-,-	COSMIC,ICGC,
chr18	36520164	36520164	T	A	intergenic	MIR4318,LINC00669	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr1	209997586	209997586	-	CACACACAC	intergenic	IRF6,DIEXF	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	integument phenotype,-	VWS-PPS spectrum disorder with renal aplasia|Van der Woude syndrome with bilateral conical elevations|Van der Woude syndrome / popliteal pterygium syndrome|Van der Woude syndrome|Popliteal pterygium syndrome|Oral clefts, non-syndromic|Non-syndromic orofacial clefts, increased risk|EEC-like syndrome|Cleft lip/palate, association with|Cleft lip/palate|Cleft lip, association with,-	ICGC,
chr16	19779963	19779963	A	G	intronic	IQCK	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr14	85415068	85415068	G	A	intergenic	NONE,LINC00911	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr4	19058612	19058612	C	G	intergenic	LCORL,SLIT2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23807147	-	ORCA-IN|1|178|0.00562	-	-	-,mortality/aging	-,Schizophrenia  	COSMIC,ICGC,
chr10	16131097	16131097	C	T	intergenic	FAM188A,PTER	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,-	Non-small-cell lung cancer, increased risk, association with,-	ICGC,
chr2	162713672	162713672	C	T	intronic	SLC4A10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Schizophrenia  |Partial epilepsy and mental retardation|Mental retardation & muscular hypotonia|Mental retardation & generalised hypotonia|Epilepsy & mental retardation|Autism	ICGC,
chr8	43216600	43216600	T	C	intronic	POTEA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr6	57292967	57292967	-	TTTTTTTTTTT	intronic	PRIM2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	Potential protein deficiency	ICGC,
chr2	47672814	47672814	T	G	intronic	MSH2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	-	Hereditary_cancer-predisposing_syndrome	-	integument phenotype	Metachronous colorectal carcinoma |Malignant fibrous histiocytoma|Lynch syndrome-associated breast cancer.|Lynch syndrome-associated breast cancer|Increased risk of urothelial cancer in HNPCC patients|HNPCC, anticipation effects, association with|High-grade dysplasia/cancer in ulcerative colitis, association|Head and neck cancer, reduced risk, association with|Mismatch repair defect|Muir-Torre syndrome|Ovarian cancer |Turcot syndrome |Signs of neurofibromatosis type I|Renal cell carcinoma|Renal and ureteric cancer|Reduced expression|Radiosensitivity in breast cancer patients, association with|Prostate cancer|Pancreatic cancer|Glioma|Gastrointestinal cancer.|Colorectal cancer|Colorectal / endometrial cancer|Colon cancer|CNS tumour and lymphoma|Breast carcinoma|Breast cancer.|Breast and colorectal cancer|Acute lymphocytic leukaemia and cafe-au-lait spots|Colorectal cancer, early onset |Colorectal cancer, non-polyposis|Colorectal cancer, non-polyposis with increased risk of urothelial cancer|Gastrointestinal cancer  |Gastric cancer |Endometrial cancer.|Endometrial cancer   |Colorectal cancer, young-onset|Colorectal cancer, non-polyposis, with leiomyosarcoma.|Colorectal cancer, non-polyposis, early-onset|Colorectal cancer, non-polyposis, association	ClinVar,
chr2	82771429	82771429	T	G	intergenic	LOC100507201,LOC1720	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr12	70007001	70007001	C	T	intergenic	LRRC10,BEST3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5951210	-	LIRI-JP|1|258|0.00388	-	-	normal phenotype,-	-,-	COSMIC,ICGC,
chr3	74803881	74803881	G	T	intergenic	CNTN3,MIR4444-1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24906503	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	COSMIC,ICGC,
chr9	79794087	79794087	T	C	intronic	VPS13A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	hematopoietic system phenotype	Schizophrenia|Chorea-acanthocytosis with upper motor neuron degeneration|Chorea-acanthocytosis with dilated cardiomyopathy & myopathy|Chorea-acanthocytosis	ICGC,
chr22	48527913	48527913	C	A	intergenic	LOC284930,MIR3201	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19239627	-	CLLE-ES|1|510|0.00196	-	-	-,-	-,-	COSMIC,ICGC,
chr15	79173114	79173114	C	A	intronic	MORF4L1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24031656	-	BRCA-FR|1|72|0.01389	-	-	integument phenotype	-	COSMIC,ICGC,
chr4	53852710	53852710	G	A	intronic	SCFD2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr20	57111583	57111583	-	TTGTGCC	ncRNA_intronic	APCDD1L-AS1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|2|67|0.02985	-	-	-	-	ICGC,
chrX	130389975	130389975	G	A	intergenic	ARHGAP36,IGSF1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,normal phenotype	-,Central hypothyroidism|Central hypothyroidism & testicular enlargement	ICGC,
chr6	119301390	119301390	C	A	exonic	FAM184A	nonsynonymous	SNV	0.059	0.277	-	-	-	-	-	-	-	-	COAD|1|367|0.00272,COADREAD|1|489|0.00204	-	-	-	-	-	TCGA,
chr20	11806858	11806858	A	C	ncRNA_intronic	LINC00687	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23343099	-	MALY-DE|2|241|0.00830	-	-	-	-	COSMIC,ICGC,
chr4	163254387	163254387	C	T	intergenic	FSTL5,NAF1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Schizophrenia  |Rolandic epilepsy ,-	ICGC,
chr14	22944386	22944386	T	-	intergenic	OR4E2,DAD1	unknown	deletion	-	-	0.0006	6.549e-05	rs767441830	0.0001	-	-	-	-	KIPAN|2|799|0.00250,KIRC|2|451|0.00443	GACA-JP|3|585|0.00513	-	-	-,mortality/aging	-,-	TCGA,ICGC,
chr2	63465147	63465147	-	A	intronic	WDPCP	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	Bardet-Biedl syndrome|Meckel-Gruber syndrome	ICGC,
chrX	4708955	4708955	T	-	intergenic	LOC101928201,NLGN4X	unknown	deletion	-	-	-	-	-	-	-	-	-	COSN25348269	-	MALY-DE|1|241|0.00415	-	-	-,-	-,Potential protein deficiency|Mental retardation|Kallmann syndrome and ichthyosis|Intellectual disability, short stature & hydrocephaly|Intellectual disability, Kallmann syndrome & ichthyosis|Intellectual disability, behavioural difficulties, ichthyosis & hypogonadotrophic hypogonadism|Intellectual disability, autism spectrum disorder & short stature|Developmental delay, hypospadias & ichthyosis|Developmental delay, autism spectrum disorder, micropenis & ichthyosis|Developmental delay  |Autism, association with|Autism and mental retardation|Autism 	COSMIC,ICGC,
chr8	58285211	58285211	C	T	intergenic	LINC00588,FAM110B	unknown	SNV	-	-	-	0.0001	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538,MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr11	124228477	124228477	C	A	intergenic	OR8D2,OR8B2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN59820	-	-	-	-	-,-	-,-	COSMIC,
chr2	121125125	121125125	C	T	intergenic	INHBB,LINC01101	unknown	SNV	-	-	-	-	rs545106313	-	0.000798722	-	-	COSN4983691	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,-	Spermatogenic failure ,-	COSMIC,ICGC,
chr11	104512597	104512597	A	T	intergenic	LOC102723895,CASP12	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,mortality/aging	-,Sepsis, susceptibility, association with	ICGC,
chr4	21458579	21458579	T	C	intronic	KCNIP4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	RECA-EU|1|422|0.00237	-	-	-	Renal cell carcinoma 	ICGC,
chr1	198612452	198612452	G	A	intronic	PTPRC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Variant CD45 expression|Multiple sclerosis|Immunodeficiency, severe combined|Hepatitis C, protection against, association with.|Defective splicing|Altered immune function	ICGC,
chr3	42831327	42831327	C	T	intronic	HIGD1A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26443158	-	LIAD-FR|1|32|0.03125,LICA-FR|1|252|0.00397	-	-	-	-	COSMIC,COSMIC,ICGC,
chr5	10111187	10111187	A	C	intergenic	LOC285692,FAM173B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17732348	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr13	43808284	43808284	C	G	intronic	ENOX1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	Myasthenia gravis, adult-onset autoimmune	ICGC,
chr12	113160844	113160844	G	A	intergenic	PTPN11,RPH3A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,normal phenotype	Noonan syndrome with malignant mastocytsosis|Noonan syndrome with lymphocytic leukaemia / basal cell carcinoma|Noonan syndrome with juvenile myelomonocytic leukaemia|Noonan syndrome with dysembryoplastic neuro-epithelial tumour|Noonan syndrome with ductal breast cancer|Noonan syndrome with colorectal cancer / epithelioid angiosarcoma|Noonan syndrome with multifocal ductal breast cancer|Noonan syndrome with multiple giant cell lesions|Noonan syndrome with neuroblastoma|Noonan syndrome with non-Hodgkin lymphoma|Noonan syndrome with oligodendroglioma|Potential protein deficiency|Severe neonatal hypertrophic cardiomyopathy, in Noonan syndrome|Thrombocytopaenia and Noonan syndrome.|Visual loss, cranial fibrous dysplasia, aneurysmal bone cyst|Noonan syndrome with acute lymphoblastic / juvenile myelomonocytic leukaemia|Noonan syndrome|Acute lymphoblastic leukaemia|Atrioventricular septal defect|Behcet's disease |Cardiomyopathy, hypertrophic.|Congenital heart defect & Noonan syndrome|Giant cell lesions in Noonan syndrome|Glioma  |LEOPARD syndrome|LEOPARD Syndrome.|Neurofibromatosis-Noonan syndrome|Myelomonocytic leukaemia, juvenile|ML / LEOPARD syndrome|Metachondrochromatosis|Medulloblastoma|Leukaemia, juvenile myelomonocitic,-	ICGC,
chr10	33515181	33515181	C	T	exonic	NRP1	nonsynonymous	SNV	0.006	1.0	2.847e-05	-	rs553769055	4.122e-05	0.000399361	-	-	COSM4873222	SKCM|1|368|0.00272,UCEC|1|248|0.00403	UCEC-US|1|250|0.00400	-	-	mortality/aging	-	COSMIC,COSMIC,COSMIC,COSMIC,TCGA,ICGC,
chr12	29622449	29622449	T	G	ncRNA_intronic	OVCH1-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-	-	ICGC,
chr21	45089808	45089808	C	T	exonic	RRP1B	synonymous	SNV	-	-	8.128e-06	-	rs755303960	8.245e-06	-	-	-	COSM3912221	SKCM|1|368|0.00272	SKCM-US|1|335|0.00299	-	-	-	Breast cancer progression, association with	COSMIC,TCGA,ICGC,
chr3	70231478	70231478	A	T	intergenic	LINC01212,FOXP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,mortality/aging	-,Speech delay, contractures, hypertonia & blepharophimosis|Mental retardation, speech and language deficits|Intellectual disability & autism|Intellectual disability|Delayed speech/motor development & Chiari I malformation|Congenital heart defects|Childhood apraxia of speech|Autism, speech delay and deficit of motor coordination|Autism spectrum disorder  	ICGC,
chr12	110019010	110019010	G	C	intronic	MVK	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21069637	-	BRCA-UK|1|141|0.00709,BRCA-EU|1|569|0.00176	-	-	-	Mevalonate kinase deficiency with retinitis pigmentosa|Mevalonic aciduria|Mevalonic kinase deficiency|Periodic fever|PFAPA syndrome|Retinal dystrophy & cataracts|Retinitis pigmentosa|Retinitis pigmentosa, nonsyndromic|Mevalonate kinase deficiency with retinal dystrophy & cataracts|Mevalonate kinase deficiency|Colitis, severe, early-onset.|Colitis. severe, early-onset.|Disseminated superficial actinic porokeratosis|Disseminated superficial actinic porokeratosis.|Hyperimmunoglobulin D and periodic fever syndrome|Hyperimmunoglobulin D syndrome|Hyperimmunoglobulin D syndrome with amyloidosis|Hyperimmunoglobulin D syndrome.	COSMIC,ICGC,
chr11	99853638	99853638	G	C	intronic	CNTN5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	behavior/neurological phenotype	-	ICGC,
chr8	1233568	1233568	A	C	intergenic	ERICH1-AS1,LOC286083	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr18	52293970	52293970	G	A	intergenic	DYNAP,RAB27B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,-	ICGC,
chr11	73175275	73175275	G	A	intronic	FAM168A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr6	1642502	1642502	G	A	intronic	GMDS	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7787446	-	PACA-CA|1|268|0.00373	-	-	-	Tetralogy of Fallot	COSMIC,ICGC,
chr5	138728788	138728788	G	A	exonic	PROB1	synonymous	SNV	-	-	8.21e-06	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-	-	ICGC,
chr1	31040492	31040492	T	C	intergenic	LOC101929406,MATN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,skeleton phenotype	-,-	ICGC,
chr15	24235788	24235788	C	T	intergenic	NDN,PWRN2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27974314	-	PRAD-CA|1|308|0.00325	-	-	integument phenotype,-	-,-	COSMIC,ICGC,
chr2	229493666	229493666	G	A	intergenic	SPHKAP,PID1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,-	-,Anorectal malformation	ICGC,
chr18	53357580	53357580	-	TATC	intergenic	TCF4,LOC101927273	unknown	insertion	-	-	-	0.0063	rs571584183	-	0.00299521	-	-	COSN28080170	-	-	-	-	mortality/aging,-	Rett syndrome, variant / Pitt-Hopkins syndrome|Pitt-Hopkins syndrome|Mental retardation and microcephaly|Mental retardation & facial anomalies|Intellectual disability, nonsyndromic|Intellectual disability and dysmorphisms|Intellectual disability|Fuchs endothelial corneal dystrophy, susceptibility to |Angelman syndrome,-	COSMIC,
chr3	10552155	10552155	G	T	intergenic	ATP2B2,ATP2B2-IT2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	reproductive system phenotype,-	Deafness, autosomal recessive 12, modifier of,-	ICGC,
chr5	43448597	43448597	A	G	intronic	C5orf28	unknown	SNV	-	-	-	0.5770	rs57547662	-	0.503195	-	0.667	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr10	75391782	75391782	T	A	exonic	MYOZ1	nonsynonymous	SNV	0.0	1.0	-	-	-	-	-	-	-	COSM3807691	BRCA|1|982|0.00102	BRCA-US|1|955|0.00105	-	-	behavior/neurological phenotype	-	COSMIC,TCGA,ICGC,
chr15	27893139	27893139	G	A	intergenic	GABRG3,OCA2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,integument phenotype	Potential protein deficiency,Skin pigmentation, association with|Pigmentary dysplasia, mental retardation, epilepsy & dysmorphic features|Oculocutaneous albinism|Mild to subclinical phenotype|Malignant melanoma, increased risk, association with|Darker eye colour, association with|Blue eye colour, association with|Basal cell carcinoma, association with.|Albinism, oculocutaneous II|Albinism, oculocutaneous|Albinism, ocular	ICGC,
chr7	46419276	46419276	G	T	intergenic	IGFBP3,TNS3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23278239	-	MALY-DE|1|241|0.00415	-	-	behavior/neurological phenotype,mortality/aging	Prostate cancer, increased risk|Plasma IGFBP-3 levels, association with|Pancreatic cancer, clinical outcome, association with|Lung cancer, increased risk, association with|Increased IGFBP-3 levels, association with|IGFBP-3 levels|Higher promoter activity, association with|Drug response, association with|Decreased IGFBP-3 levels, association with|Colorectal cancer, association with,Renal agenesis, pulmonary infections & growth/developmental delay	COSMIC,ICGC,
chr5	153313526	153313526	-	AAGTC	intergenic	GRIA1,FAM114A2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	integument phenotype,-	Intellectual disability  ,-	ICGC,
chr16	51090997	51090997	C	T	intergenic	LOC101927334,SALL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,mortality/aging	-,Townes-Brocks syndrome|Renal hypodysplasia|Multiple congenital anomalies, CNS defects, cortical blindness, and absence of psychomotor development|Lenz microphthalmia syndrome|Goldenhar syndrome 	ICGC,
chr10	30794935	30794935	G	C	intergenic	MAP3K8,LYZL2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9204359	-	OV-AU|1|93|0.01075	-	-	mortality/aging,-	-,-	COSMIC,ICGC,
chrX	63895082	63895082	A	C	intergenic	MTMR8,ZC4H2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	Autism spectrum disorder,Arthrogryposis multiplex congenita and intellectual disability	ICGC,
chr1	163650239	163650239	G	A	intergenic	LOC100422212,PBX1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Schizophrenia	ICGC,
chr2	206727636	206727636	G	A	intergenic	NRP2,INO80D	unknown	SNV	-	-	-	3.231e-05	-	-	-	-	-	COSN20664074	-	BRCA-EU|1|569|0.00176,PBCA-US|1|186|0.00538,PBCA-DE|1|499|0.00200	-	-	integument phenotype,-	Osteoarthritis, early-onset |Autism, association with ,-	COSMIC,ICGC,
chr5	58737887	58737887	T	C	intronic	PDE4D	unknown	SNV	-	-	-	0.1944	rs28706428	-	0.164936	-	0.159	-	-	LAML-KR|1|205|0.00488	-	-	mortality/aging	Psychomotor retardation, coarse facies & ocular anomalies|Intellectual disability syndrome with low body mass index & facial features|Acrodysostosis	ICGC,
chr3	40272857	40272857	T	C	ncRNA_intronic	EIF1B-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr12	7965594	7965594	G	A	UTR3	SLC2A14	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr6	98354755	98354755	G	A	intergenic	LOC101927314,MIR2113	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr22	26173728	26173728	G	T	exonic	MYO18B	nonsynonymous	SNV	0.043	0.943	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	mortality/aging	Colorectal cancer, increased risk, association with|Leukemia, risk, association with |Schizophrenia	ICGC,
chr17	25789496	25789496	C	T	intergenic	TBC1D3P5,KSR1	unknown	SNV	-	-	-	0.0001	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,-	ICGC,
chr16	56516994	56516994	A	C	intergenic	OGFOD1,BBS2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1701008	-	LIRI-JP|1|258|0.00388	-	-	-,integument phenotype	-,Retinitis pigmentosa|Phenotype modifier|Bardet-Biedl syndrome|Altered function	COSMIC,COSMIC,COSMIC,ICGC,
chr1	63100485	63100485	A	-	exonic	DOCK7	unknown	deletion	-	-	-	-	-	-	-	-	-	COSM5352520	-	-	-	-	integument phenotype	-	COSMIC,COSMIC,COSMIC,
chr6	96398042	96398042	C	T	intergenic	MANEA,FUT9	unknown	SNV	-	-	-	3.235e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,normal phenotype	-,-	ICGC,
chr14	81421430	81421430	A	G	upstream	TSHR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging	Hypothyroidism, association with|Hypothyroidism.|Insulin resistance, association with|Subclinical hypothyroidism|Thyroid hyperplasia|Thyroid hypoplasia|Thyroid hypoplasia.|Thyroid-stimulating hormone resistance|Thyroid-stimulating hormone resistance, nonclassic|Thyrotoxicosis|Toxic multinodular goitre, association with|Hypothyroidism|Hyperthyrotropinemia|Hyperthyrotropinaemia, nonautoimmune isolated |Athyreosis.|Graves' ophthalmopathy|Graves’ disease and Hashimoto’s disease, association with.|Hyperfunctioning thyroid nodules|Hyperthyroidism|Hyperthyroidism, autoimmune, association with |Hyperthyroidism, gestational|Hyperthyroidism, nonautoimmune|Hyperthyroidism, nongoitrous & nonautoimmune|Hyperthyrotropinaemia  |Hyperthyrotropinaemia, in infants, association with.	ICGC,
chr20	30975376	30975376	C	G	intronic	ASXL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	mortality/aging	Systemic mastocytosis with associated non-mast cell lineage disease|Schizophrenia|Facial dysmorphism with ridging of the metopic suture, developmental delay & short hands|Bohring-Opitz syndrome	ICGC,
chr2	181736899	181736899	T	G	ncRNA_intronic	SCHLAP1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN4799578	-	MALY-DE|1|241|0.00415	-	-	-	-	COSMIC,ICGC,
chr3	166046386	166046386	T	A	intergenic	BCHE,ZBBX	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	mortality/aging,-	Serum cholinesterase deficiency|Potential protein deficiency|Obesity and triglyceride levels, association with|Hypocholinesterasaemia|Fronto-temporal dementia, association with|Cholinesterasaemia|Butyrylcholinesterase variant|Butyrylcholinesterase deficiency|Addiction to crack cocaine, association with|Acholinesterasaemia,-	ICGC,
chr3	55415389	55415389	C	A	intergenic	CACNA2D3,WNT5A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype,mortality/aging	Autism ,Robinow syndrome, autosomal dominant	ICGC,
chr1	215200192	215200192	C	T	intronic	KCNK2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	mortality/aging	-	ICGC,
chr9	14117490	14117490	-	A	intronic	NFIB	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	mortality/aging	Agenesis of corpus callosum 	ICGC,
chr1	96336400	96336400	T	A	intergenic	LOC100996635,LOC101928241	unknown	SNV	-	-	-	3.256e-05	-	-	-	-	-	-	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	ICGC,
chr3	180743377	180743377	C	T	intergenic	DNAJC19,SOX2-OT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,-	Dilated cardiomyopathy syndrome|Dilated cardiomyopathy with ataxia syndrome,-	ICGC,
chr21	23847865	23847865	C	A	intergenic	LINC00308,D21S2088E	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chrX	61840988	61840988	G	A	intergenic	NONE,SPIN4	unknown	SNV	-	-	-	0.0001	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	-,-	ICGC,
chr21	10757690	10757690	C	G	intergenic	TEKT4P2,TPTE	unknown	SNV	-	-	-	-	rs113294815	-	-	-	0.094	COSN10020914	-	RECA-EU|1|422|0.00237	-	-	-,-	-,Potential protein deficiency	COSMIC,ICGC,
chr7	18325811	18325811	G	A	intronic	HDAC9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Peters' anomaly |Immunodeficiency, common variable, association with  	ICGC,
chr14	41348205	41348205	C	T	intergenic	FBXO33,LOC644919	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|2|100|0.02000,MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr17	53669054	53669054	C	T	intergenic	MMD,TMEM100	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,-	ICGC,
chr22	46557437	46557437	A	G	intronic	PPARA	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21158268	-	BRCA-EU|1|569|0.00176	-	-	integument phenotype	Stage C heart failure, association with|Non-alcoholic fatty liver disease and obesity, association with|Lower total cholesterol, association with|Elevated plasma lipid concentration, association in diabetes|Elevated apoAI concentration, association in diabetes|Dyslipidemia, association with|Diabetes |Decreased mortality, in diabetics with coronary ischaemia, association	COSMIC,ICGC,
chr11	13683228	13683228	G	A	intergenic	PTH,FAR1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,-	Hypoparathyroidism,-	ICGC,
chr7	75234399	75234399	G	T	intronic	HIP1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9509140	-	OV-AU|1|93|0.01075	-	-	mortality/aging	Epilepsy & learning difficulties|Ovarian cancer 	COSMIC,ICGC,
chr6	27393014	27393014	G	A	intergenic	ZNF391,ZNF184	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr11	91296502	91296502	G	A	intergenic	DISC1FP1,FAT3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5710793	-	LINC-JP|1|394|0.00254	-	-	-,vision/eye phenotype	-,Autism spectrum disorder	COSMIC,ICGC,
chr15	63291266	63291266	C	T	intergenic	TLN2,TPM1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,mortality/aging	-,Potential protein deficiency|Cardiomyopathy, restrictive|Cardiomyopathy, non-compaction, left ventricular|Cardiomyopathy, left-ventricular noncompaction|Cardiomyopathy, hypertrophic|Cardiomyopathy, dilated non-compaction|Cardiomyopathy, dilated	ICGC,
chr8	32390080	32390080	G	A	intronic	NRG1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5234783	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype	Sudden cardiac death, association with|Schizophrenia, association with  |Schizophrenia in African Americans, association with|Prepulse inhibition, association with|Perceptual aberration of schizotypal personality, association with|Increased lateral ventricle volume in schizophrenia|Hirschsprung disease|Developmental delay, hypotonia & microcephaly|Alzheimers disease, association with	COSMIC,COSMIC,ICGC,
chr2	126601517	126601517	C	T	intergenic	CNTNAP5,GYPC	unknown	SNV	-	-	-	3.236e-05	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	Autism,Glycophorin C variant|Gerbich-negative blood group|Elliptocytosis|Duch blood group	ICGC,
chr11	57394425	57394425	G	A	intergenic	SERPING1,MIR130A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	cardiovascular system phenotype,-	Vasculitic neuropathy|Macular degeneration, age related, association with|Angioneurotic oedema|Angioedema, hereditary.|Angioedema, hereditary,-	ICGC,
chr7	156469729	156469729	C	A	UTR3	RNF32	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	Autism spectrum disorder	ICGC,
chr7	48061677	48061677	C	A	intronic	SUN3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17594882	-	ESAD-UK|1|301|0.00332	-	-	-	-	COSMIC,ICGC,
chrX	134976650	134976650	C	A	intronic	SAGE1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-	Potential protein deficiency	ICGC,
chr4	45803629	45803629	C	T	intergenic	GNPDA2,GABRG1	unknown	SNV	-	-	-	0.0003	rs553029246	-	0.000199681	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chrX	123249834	123249834	T	-	intergenic	STAG2,SH2D1A	unknown	deletion	-	-	-	0.0049	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,hematopoietic system phenotype	-,Non-Hodgkin lymphoma|Lymphoproliferative syndrome, X-linked type 1.|Lymphoproliferative syndrome, X-linked type 1|Lymphoproliferative syndrome, X-linked|Lymphoproliferative syndrome, in males, association with|Immunodeficiency syndrome, common variable|Haemophagocytic lymphohistiocytosis	ICGC,
chr6	87166453	87166453	G	A	intergenic	SNHG5,HTR1E	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr10	44610337	44610337	C	T	intergenic	LINC00841,LOC100130539	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25204511	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	COSMIC,ICGC,
chr6	39747689	39747689	G	A	intergenic	KIF6,DAAM2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,skeleton phenotype	Schizophrenia|Response to statin therapy, association with|Myocardial infarction, increased myocardial damage, association|Increased vulnerability to LDL cholesterol, association with|Coronary heart disease, association with,-	ICGC,
chr7	111568024	111568024	A	G	intronic	DOCK4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr14	41928713	41928713	G	T	intergenic	LOC644919,LRFN5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21952000	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,Short stature|Developmental delay, seizures & learning problems 	COSMIC,ICGC,
chr14	96420241	96420241	G	A	intergenic	TUNAR,C14orf132	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr7	88581689	88581689	T	A	intronic	ZNF804B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20478432	-	COCA-CN|1|321|0.00312	-	-	-	-	COSMIC,ICGC,
chr1	79076932	79076932	G	A	intergenic	PTGFR,IFI44L	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17538724	-	ESAD-UK|1|301|0.00332	-	-	reproductive system phenotype,-	-,Altered splicing 	COSMIC,ICGC,
chr14	75642613	75642613	G	A	intronic	TMED10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-FR|1|72|0.01389	-	-	mortality/aging	-	ICGC,
chr5	53318141	53318141	T	G	intronic	ARL15	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21731339	-	BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr3	184872762	184872762	-	A	intergenic	C3orf70,EHHADH-AS1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr8	2612028	2612028	A	G	intergenic	MYOM2,CSMD1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17301753	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,Schizophrenia, association with |Hyperinsulinism|Autism|Attention deficit hyperactivity disorder 	COSMIC,ICGC,
chr11	32286027	32286027	A	C	intergenic	RCN1,WT1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22381932	-	BRCA-EU|1|569|0.00176	-	-	-,mortality/aging	-,Nephrotic syndrome, steroid-resistant|Nephrotic syndrome, steroid resistant|Nephrotic syndrome|Nephrotic proteinuria|Nephrotic syndrome.|Renal dysfunction & renal blastema|Ureteropelvic junction obstruction      |Wilms tumour|Wilms tumour and nephropathy|Wilms tumour, adult|Wilms tumour.|Membranoproliferative glomerulonephritis|Hypospadias|46, XY disorder of sex development|46,XY disorder of sex development |46,XY disorder of sex development with bilateral gonadoblastoma|Denys-Drash syndrome|Denys-Drash syndrome, incomplete|Denys-Drash syndrome, incomplete.|Diffuse mesangial sclerosis|Early-onset nephrotic syndrome|Focal segmental glomerulosclerosis|Focal segmental glomerulosclerosis in WAGR syndrome.|Frasier syndrome	COSMIC,ICGC,
chr8	20935022	20935023	AC	-	intergenic	LOC286114,LOC101929172	unknown	deletion	-	-	-	0.0007	rs150690647	-	-	-	-	COSN23085379	-	BRCA-EU|2|569|0.00351	-	-	-,-	-,-	COSMIC,COSMIC,COSMIC,ICGC,
chr2	77589378	77589378	C	A	intronic	LRRTM4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5132259	-	BRCA-UK|1|141|0.00709,BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,COSMIC,ICGC,
chr4	180416258	180416258	T	C	intergenic	LINC01098,LINC00290	unknown	SNV	-	-	-	0.1434	rs62341914	-	0.149361	-	0.109	-	-	ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488	-	-	-,-	-,-	ICGC,
chr14	72649346	72649346	G	A	intronic	RGS6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	cardiovascular system phenotype	Increased protein expression	ICGC,
chr20	43530381	43530381	G	C	exonic	YWHAB	nonsynonymous	SNV	0.019	0.021	-	-	-	-	-	-	-	COSM1172723	-	-	-	-	-	-	COSMIC,
chr7	67586401	67586401	C	T	intergenic	LOC102723427,LOC100507468	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	185075766	185075766	A	T	intronic	MAP3K13	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-	-	ICGC,
chr20	56118635	56118667	TACCGTAAGAGTTTTTAAGGACGGAAGTTAATG	-	intergenic	CTCFL,PCK1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	reproductive system phenotype,integument phenotype	Genome-wide recombination rate, association with,Lipoprotein/Triglyceride levels, association with|Global cognition in alzheimer disease, association with|Diabetes Mellitus, type 2, association with|Brain atrophy in multiple sclerosis, association with	ICGC,
chr7	123109388	123109388	C	T	exonic	IQUB	nonsynonymous	SNV	0.072	0.976	-	-	-	-	-	-	-	COSM4527406	-	-	-	-	-	-	COSMIC,
chr4	46304731	46304731	C	T	intronic	GABRA2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	-	ICGC,
chr8	78533587	78533587	C	T	intergenic	PEX2,PKIA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|3|183|0.01639	-	-	mortality/aging,normal phenotype	Zellweger syndrome|Refsum disease, infantile|Peroxisome biogenesis disorder|Cerebellar ataxia, autosomal recessive,-	ICGC,
chr2	208270936	208270936	-	GT	intergenic	LOC101927865,CREB1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,mortality/aging	-,Heart rate response to submaximal exercise, association with|Increased promoter activity|Major depressive disorder, association with|Multiple malformation syndrome	ICGC,
chr16	68847213	68847213	C	T	intronic	CDH1	unknown	SNV	-	-	0.0001	0.0003	rs36103202	0.0001	0.00119808	0.0005	-	-	-	-	Hereditary_cancer-predisposing_syndrome|Hereditary_diffuse_gastric_cancer|not_specified	-	integument phenotype	Gastric cancer, susceptibility to |Increased promoter activity|Invasive lobular breast cancer/lobular carcinoma in situ|Nasopharyngeal cancer, association with|Nephrolithiasis, decreased risk|Orofacial clefting |Papillary thyroid carcinoma, association with.|Papillary thyroid carcinoma, protection against, association with.|Primary gastric diffuse large B-cell lymphoma, association|Prostate cancer  |Prostate cancer risk|Prostate cancer, association with.|Reduced promoter activity|Reduced transcriptional efficiency, association|Gastric cancer, diffuse|Gastric cancer, decreased risk in asians|Gastric cancer|Bilateral breast and endometrial adenocarcinoma|Breast and/or ovarian cancer |Breast cancer |Breast cancer, lobular|Cancer risk|Cancer, decreased risk|Colorectal cancer risk|Colorectal cancer, association with|Colorectal cancer, association with.|Colorectal cancer, increased risk, association with|Colorectal cancer, progression, association with|Colorectal cancer, protection against, association with.|Early onset diffuse gastric cancer.|Early onset diffuse gastric cancer/hereditary diffuse gastric cancer.	ClinVar,
chr12	5687820	5687820	C	T	intronic	ANO2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	taste/olfaction phenotype	-	ICGC,
chr6	92762999	92762999	G	A	intergenic	CASC6,EPHA7	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1338453	-	-	-	-	-,nervous system phenotype	-,Development delay and dysmorphic features|Leukemia, risk, association with 	COSMIC,
chr4	61412756	61412757	TT	-	intergenic	NONE,LPHN3	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	-,behavior/neurological phenotype	-,-	ICGC,
chr11	42205902	42205902	T	A	intergenic	LOC102723644,LOC100507205	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr22	48681112	48681112	C	T	intergenic	MIR3201,FAM19A5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-,-	-,-	ICGC,
chr22	18364028	18364028	C	T	exonic	MICAL3	synonymous	SNV	-	-	-	-	-	-	-	-	-	-	BLCA|1|396|0.00253	-	-	-	-	Autism spectrum disorder	TCGA,
chr15	29809156	29809156	T	A	intronic	FAM189A1	unknown	SNV	-	-	-	0.0027	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-	-	ICGC,
chr15	27244500	27244500	A	G	intronic	GABRG3	unknown	SNV	-	-	-	0.0720	rs78080379	-	0.0788738	-	0.043	-	-	LAML-KR|2|205|0.00976	-	-	-	Potential protein deficiency	ICGC,
chrX	127727344	127727344	C	T	intergenic	ACTRT1,SMARCA1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,behavior/neurological phenotype	-,-	ICGC,
chr5	91398669	91398669	T	G	intergenic	ARRDC3-AS1,NR2F1-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21527772	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr2	104671179	104671179	C	G	intergenic	TMEM182,LOC100287010	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1220819	-	LINC-JP|1|394|0.00254	-	-	-,-	-,-	COSMIC,ICGC,
chr2	155592768	155592768	T	A	intronic	KCNJ3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	cardiovascular system phenotype	Schizophrenia, association with  	ICGC,
chrX	80732042	80732042	G	A	intergenic	SH3BGRL,POU3F4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,integument phenotype	-,X-linked mixed deafness|X-linked deafness|Sensorineural hearing loss  |Mixed hearing loss |Hearing loss, X-linked nonsyndromic|Hearing loss & mental retardation	ICGC,
chr3	109786293	109786293	G	A	intergenic	LINC01205,PVRL3-AS1	unknown	SNV	-	-	-	6.466e-05	rs142345623	-	0.000399361	-	-	COSN22199065	-	BRCA-UK|1|141|0.00709,BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr5	170020823	170020823	G	A	intronic	KCNIP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr11	69624941	69624941	G	A	UTR3	FGF3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Syndromic deafness, microtia & microdontia|Syndromic deafness|Oto-dental syndrome|Odontoma-dysphagia syndrome|Michel aplasia, microtia & microdontia|Labyrinthine aplasia, microtia & microdontia|Craniosynostosis, intellectual disability and microcephaly|Craniosynostosis 	ICGC,
chr2	240430686	240430686	C	G	intergenic	HDAC4,LOC150935	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	integument phenotype,-	Anorexia nervosa/bulimia nervosa|Autism spectrum disorder|Brachydactyly mental retardation syndrome|Brachydactyly mental retardation syndrome & hyperoxaluria, type 1,-	ICGC,
chr2	184449675	184449675	C	T	intergenic	NUP35,ZNF804A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Neurodevelopmental disease|Reduced cortical gray matter thickness|Schizophrenia and bipolar disorder, association with|Schizophrenia, association with  	ICGC,
chr6	138817460	138817460	G	T	exonic	NHSL1	nonsynonymous	SNV	0.001	1.0	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr19	49678728	49678728	C	T	intronic	TRPM4	unknown	SNV	-	-	-	-	rs559903247	-	0.000399361	-	-	-	-	PBCA-US|1|186|0.00538	-	-	hematopoietic system phenotype	Brugada syndrome    |Cardiac conduction disease, isolated|Heart block type 1	ICGC,
chr8	40546526	40546526	G	C	intronic	ZMAT4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-	-	ICGC,
chr14	53164465	53164465	C	T	intergenic	ERO1L,PSMC6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	immune system phenotype,-	-,-	ICGC,
chr15	59977901	59977901	A	G	intronic	BNIP2	unknown	SNV	-	-	-	0.3339	rs6151458	-	0.366813	-	0.370	-	-	ESAD-UK|2|301|0.00664	-	-	-	-	ICGC,
chrX	42367705	42367705	A	T	intergenic	CASK,PPP1R2P9	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21188825	-	BRCA-EU|1|569|0.00176	-	-	integument phenotype,-	Autism |Pontocerebellar hypoplasia 3 with early myoclonic epilepsy and tetralogy of Fallot|Pontocerebellar hypoplasia 2|Opitz-Kaveggia syndrome|Ohtahara syndrome & cerebellar hypoplasia|Nystagmus  |Microcephaly, mental retardation, brainstem & cerebellar hypoplasia|Mental retardation, X-linked |Mental retardation, nystagmus & microcephaly|Mental retardation, microcephaly & pontocerebellar hypoplasia|Autism spectrum disorder|Epilepsy & pontocerebellar hypoplasia|Intellectual disability & microcephaly with pontine & cerebellar hypoplasia|Intellectual disability, microcephaly, pontocerebellar hypoplasia|Mental retardation & microcephaly with pontine & cerebellar hypoplasia|Mental retardation & nystagmus,-	COSMIC,ICGC,
chr18	3081035	3081035	C	T	intronic	MYOM1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9224137	-	PAEN-AU|1|52|0.01923	-	-	-	Cardiomyopathy, hypertrophic|Potential protein deficiency	COSMIC,ICGC,
chr9	31249955	31249955	C	A	intergenic	LINC01242,ACO1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,mortality/aging	-,Schizophrenia	ICGC,
chr16	34526516	34526516	C	T	intergenic	UBE2MP1,LOC283914	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr9	22275107	22275107	G	C	intergenic	CDKN2B-AS1,DMRTA1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,taste/olfaction phenotype	Stroke, association with|Coronary artery disease, association with,-	ICGC,
chr13	65744210	65744210	T	G	intergenic	OR7E156P,PCDH9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr7	118944095	118944095	G	A	intergenic	ANKRD7,KCND2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Epilepsy, temporal lobe	ICGC,
chr1	53896386	53896386	T	G	intergenic	LRP8,SLC25A3P1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	Syndromic cleft lip & palate|Plasma cholesterol levels, association with|LDL peak particle diameter, association with|Increased plasma triglyceride levels, association with|Foetal growth restriction, lower risk, association|Coronary artery disease, association with,-	ICGC,
chr8	5879268	5879268	C	A	intergenic	CSMD1,LOC100287015	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	Schizophrenia, association with |Hyperinsulinism|Autism|Attention deficit hyperactivity disorder ,-	ICGC,
chr8	34752839	34752839	-	G	intergenic	DUSP26,UNC5D	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr5	9413396	9413396	G	A	intronic	SEMA5A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	mortality/aging	Double outlet right ventricle	ICGC,
chr3	39329521	39329521	C	A	intergenic	CX3CR1,CCR8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	RECA-EU|1|422|0.00237	-	-	integument phenotype,immune system phenotype	Altered serum fractalkine levels|Obesity, association with|No association with cerebral infarction|Myocardial infarction, protection against, association with.|Macular degeneration, exudative age-related, association with|Macular degeneration, age-related, association with|HIV infection, susceptibility to, association|Developmental dysplasia ?|Amyotrophic lateral sclerosis, modifier of|Carotid atherosclerosis, reduced risk, association with|Childhood otitis media, susceptibility to|Coronary artery disease, early onset, association with.|Coronary artery disease, protection against, association with.,-	ICGC,
chr3	1329735	1329735	C	T	intronic	CNTN6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	behavior/neurological phenotype	Intellectual disability  	ICGC,
chr20	57972265	57972265	C	T	intergenic	EDN3,PHACTR3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Waardenburg-Hirschsprung disease|Waardenburg syndrome 4B|Waardenburg syndrome 4|Shah-Waardenburg syndrome|Phenotype modification in HSCR|Hirschsprung disease|Deafness  |Central hypoventilation syndrome,-	ICGC,
chr9	27604466	27604466	T	A	intergenic	C9orf72,LINGO2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	Frontotemporal dementia, early-onset behavioral variant.|Frontotemporal dementia/Amyotrophic lateral sclerosis.|Huntington disease phenocopy|Lund frontotemporal dementia|Multiple neurodegenerative syndromes|Multiple sclerosis-amyotrophic lateral sclerosis.|Olivopontocerebellar degeneration/atypical Parkinsonian syndrome/corticobasal syndrome.|Parkinson disease  |Schizophrenia  |Frontotemporal dementia, behavioural variant|Frontotemporal dementia with psychosis, parkinsonism, visuo-spatial dysfunction, upper motor neuron involvement.|Alzheimer disease|Alzheimer disease.|Amyotrophic lateral sclerosis|Amyotrophic lateral sclerosis / frontotemporal dementia  |Bipolar affective disorder preceding frontotemporal dementia.|Bipolar disorder  |Dementia.|Frontotemporal dementia|Frontotemporal dementia / motor neuron disease,Autism spectrum disorder  |Developmental delay with absent speech	ICGC,
chr8	88637806	88637806	G	A	intergenic	CNBD1,DCAF4L2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr14	70459159	70459159	G	A	exonic	SMOC1	synonymous	SNV	-	-	1.625e-05	3.23e-05	rs757496235	1.649e-05	-	-	-	COSM3497398	SKCM|1|368|0.00272	SKCM-US|1|335|0.00299,MELA-AU|1|183|0.00546	-	-	integument phenotype	Microphthalmia with limb anomalies|Waardenburg anophthalmia syndrome	COSMIC,TCGA,ICGC,
chr11	40880498	40880498	C	T	intronic	LRRC4C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr11	98781554	98781554	G	A	intergenic	MIR7976,CNTN5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,behavior/neurological phenotype	-,-	ICGC,
chrX	27100392	27100392	C	T	intergenic	VENTXP1,SMEK3P	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21532865	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr6	120840673	120840673	T	C	intergenic	LOC285762,TBC1D32	unknown	SNV	-	-	-	0.0008	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,Oro-facio-digital syndrome type IX	ICGC,
chr15	68978377	68978377	C	T	intronic	CORO2B	unknown	SNV	-	-	-	0.1135	rs112513638	-	-	-	-	COSN23933106	-	LAML-KR|1|205|0.00488	-	-	-	-	COSMIC,ICGC,
chr1	46468479	46468479	C	T	exonic	MAST2	nonsynonymous	SNV	0.129	0.275	-	-	-	-	-	-	-	COSM5353351	-	-	-	-	-	-	COSMIC,COSMIC,
chr8	125946603	125946603	A	G	intergenic	MTSS1,LINC00964	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LINC-JP|1|394|0.00254	-	-	mortality/aging,-	-,-	ICGC,
chr2	223789308	223789308	C	T	exonic	ACSL3	synonymous	SNV	-	-	3.434e-05	3.228e-05	rs761524184	5.775e-05	-	-	-	COSM3372656	THCA|1|504|0.00198	THCA-US|1|402|0.00249	-	-	hematopoietic system phenotype	-	COSMIC,COSMIC,TCGA,ICGC,
chr20	58377411	58377411	G	A	intronic	PHACTR3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr22	36960624	36960624	G	A	exonic	CACNG2	nonsynonymous	SNV	0.055	0.99	-	-	-	-	-	-	-	COSM3553986	SKCM|1|368|0.00272	SKCM-US|1|335|0.00299	-	-	mortality/aging	Intellectual disability, nonsyndromic|Schizophrenia	COSMIC,TCGA,ICGC,
chr3	88627362	88627371	ATATAAATCT	-	intergenic	C3orf38,EPHA3	unknown	deletion	-	-	-	0.0012	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-,mortality/aging	-,Oligozoospermia|Schizophrenia    |Sertoli-cell-only syndrome	ICGC,
chr1	75043991	75043991	G	A	ncRNA_intronic	ERICH3-AS1	unknown	SNV	-	-	-	-	rs535293464	-	0.000199681	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr12	39238796	39238796	C	T	intronic	CPNE8	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21092934	-	BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr2	200319679	200319679	-	A	intronic	SATB2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332,PACA-CA|1|268|0.00373,MALY-DE|2|241|0.00830	-	-	mortality/aging	Toriello-Carey syndrome|Pierre Robin sequence  |Intellectual disability, nonsyndromic|Dentofacial abnormalities|Cleft palate, osteoporosis and cognitive defects|Cleft palate|Autism spectrum disorder	ICGC,
chr6	75446855	75446855	C	T	intergenic	LOC101928516,COL12A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,Bethlem-like myopathy|Joint hypermobility syndrome with myopathy|Lung cancer, susceptibility to, association with	ICGC,
chr6	162845760	162845760	C	A	intronic	PARK2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	integument phenotype	Parkinson disease, decreased risk|Parkinson disease, early-onset|Parkinson disease, early-onset.|Parkinson disease, familial|Parkinson disease, familial, association with |Parkinson disease, idiopathic|Parkinson disease, in heterozygosity, association|Parkinson disease, late-onset|Parkinson disease, sporadic, reduced risk|Parkinson disease.|Parkinsonism, juvenile, autosomal recessive|Parkinsonism, late-onset, association with|Rolandic epilepsy |Parkinson disease, autosomal recessive|Parkinson disease, association with|Parkinson disease with resting leg tremor|Attention deficit hyperactivity disorder |Autism spectrum disorder|Cervical artery dissection|Dementia with Lewy bodies|Developmental delay  |Dystonia, dopa-responsive|Leprosy, association with|Lewy bodies|Lung adenocarcinoma   |Multiple system atrophy, cerebellar subtype|Parkinson disease|Parkinson disease with dementia.|Parkinson disease with Lewy bodies	ICGC,
chr4	118966040	118966040	C	G	intronic	NDST3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	mortality/aging	-	ICGC,
chr8	22041463	22041463	C	T	intronic	BMP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Bone fragility, autosomal recessive|Osteogenesis imperfecta with normal bone density|Osteogenesis imperfecta, autosomal recessive	ICGC,
chr1	107819777	107819777	G	A	intronic	NTNG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Rett syndrome|Autism	ICGC,
chr8	2165427	2165427	-	C	intergenic	MYOM2,CSMD1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,Schizophrenia, association with |Hyperinsulinism|Autism|Attention deficit hyperactivity disorder 	ICGC,
chr9	113585921	113585921	G	A	intergenic	MUSK,LPAR1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,mortality/aging	Limb-girdle congenital myasthenic syndrome, salbutamol-responsive|Congenital myasthenic syndrome,Knee osteoarthritis, susceptibility to, association|Increased peripheral blood monocyte counts, association with	ICGC,
chr6	166105366	166105366	C	T	intergenic	PDE10A,LINC00473	unknown	SNV	-	-	-	3.229e-05	rs766617769	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	behavior/neurological phenotype,-	-,-	ICGC,
chr15	81290639	81290639	-	G	upstream	MIR4514	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	RECA-EU|1|422|0.00237	-	-	-	-	ICGC,
chr13	114002242	114002242	T	C	intronic	GRTP1	unknown	SNV	-	-	-	0.0052	rs796655533	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	-	ICGC,
chr5	45081740	45081740	C	T	intergenic	MRPS30,HCN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Idiopathic epilepsy, generalised 	ICGC,
chr6	69855652	69855652	C	T	intronic	BAI3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr2	145100554	145100554	G	A	intergenic	GTDC1,ZEB2	unknown	SNV	-	-	-	6.684e-05	-	-	-	-	-	COSN15862777	-	PACA-CA|1|268|0.00373	-	-	-,mortality/aging	-,Mowat-Wilson syndrome with cholestasis and biliary atresia|Mowat-Wilson syndrome with asplenia|Mowat-Wilson syndrome|Hirschsprung disease, modifier of|Hirschsprung disease-structural eye anomalies|Hirschsprung disease-mental retardation syndrome|Brain malformations 	COSMIC,ICGC,
chr6	37648992	37648992	G	A	intronic	MDGA1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	cellular phenotype	-	ICGC,
chr18	40110843	40110843	C	T	ncRNA_intronic	LINC00907	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr12	115361124	115361124	C	T	intergenic	TBX3,MED13L	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Ulnar-mammary syndrome,Intellectual disability, nonsyndromic, no cardiac involvement|Hypotonia, learning difficulties & perimembranous ventricular septal defect|Hypotonia, intellectual disability, conotruncal heart defect & facial anomalies|Congenital heart defect|Colorectal cancer, increased risk, association with |Autism	ICGC,
chr8	90495241	90495241	G	A	intergenic	MMP16,RIPK2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2297357	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging,hematopoietic system phenotype	-,Autism spectrum disorder	COSMIC,ICGC,
chr13	114438725	114438725	C	T	downstream	GRK1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	vision/eye phenotype	Retinitis pigmentosa|Stationary night blindness, Oguchi type	ICGC,
chr7	27525006	27525006	G	A	intergenic	EVX1-AS,HIBADH	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-,-	-,-	ICGC,
chr18	7074574	7074574	C	T	intronic	LAMA1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	High myopia, increased risk, association with|Intellectual disability  |Pancreatic cancer 	ICGC,
chr3	34216817	34216817	C	T	intergenic	PDCD6IP,LOC101928135	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	Hepatocellular carcinoma, increased risk, association with,-	ICGC,
chr11	110998841	110998841	G	A	intergenic	ARHGAP20,C11orf53	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	137849827	137849827	-	CA	intronic	THSD7B	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	Autism spectrum disorder	ICGC,
chr5	178758992	178758992	C	T	intronic	ADAMTS2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype	Ehlers-Danlos syndrome VIIc	ICGC,
chr14	53510119	53510119	-	ATTT	UTR3	DDHD1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	Spastic paraplegia  	ICGC,
chr2	239602214	239602214	C	T	intergenic	LINC01107,TWIST2	unknown	SNV	-	-	-	3.236e-05	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,integument phenotype	-,Setleis syndrome	ICGC,
chr16	62417461	62417461	G	A	intergenic	CDH8,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Learning disability  |Autism & learning disability ,-	ICGC,
chr1	96614040	96614040	G	A	intergenic	LOC100996635,LOC101928241	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	ICGC,
chr19	50500827	50500827	C	A	exonic	VRK3	nonsynonymous	SNV	0.002	1.0	-	-	-	-	-	-	-	COSM6525191	-	-	-	-	-	-	COSMIC,
chr15	78524572	78524572	G	A	intronic	ACSBG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	reproductive system phenotype	-	ICGC,
chr13	32936727	32936727	A	T	exonic	BRCA2	stopgain	SNV	-	-	-	-	-	-	-	-	-	-	HNSC|1|512|0.00195	-	-	-	integument phenotype	Ovarian cancer.|Ovarian cancer |Ovarian / peritoneal carcinoma|Oesophageal squamous cell carcinoma|Oesophageal carcinoma  |Oesophageal cancer, association with|Ocular melanoma|Medulloblastoma |Male BC risk|Lung cancer  |Lunc cancer|Liver cancer|Ovarian carcinoma|Ovarian insufficiency, primary |Reactive lymphoid hyperplasia |Prostate cancer.|Prostate cancer, high-grade|Prostate cancer |Promyelocytic leukemia |Primordial dwarfism|Potential protein deficiency|Poorer survival in prostate cancer patients|Peritoneal carcinoma|Pancreatic cancer |Pancreatic adenocarcinoma|Triple-negative breast cancer|Leukemia risk |Breast cancer, association with|Breast cancer risk, association with|Breast cancer in radiographers, decreased risk|Breast cancer |Breast and/or ovarian cancer.|Breast and/or ovarian cancer |Breast and colorectal cancer|Autism|Altered transcription factor binding|Altered splicing  |Altered function|Breast cancer, early-onset|Breast cancer, early-onset.|Breast cancer, male|Intraperitoneal cancer|Fanconi anaemia D1|Fanconi anaemia|Fallopian tube carcinoma|Fallopian tube cancer|Ductal carcinoma in situ|Breast, gastric and lover cancer.|Breast cancer.|Breast cancer, triple-negative|Breast cancer, susceptibility to, association with|Breast cancer, sporadic, protection against	TCGA,
chr5	26228891	26228891	C	T	intergenic	LOC340107,CDH9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr18	31598710	31598710	G	A	intronic	NOL4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr5	149453867	149453867	-	GTTTT	intronic	CSF1R	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype	Myleoid malignancy, predisposition|Leukodystrophy    |Hereditary diffuse leukoencephalopathy with spheroids|Hereditary diffuse leukodystrophy with spheroids|Asthma, increased risk, association with 	ICGC,
chr17	6596346	6596346	G	T	intronic	SLC13A5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	behavior/neurological phenotype	-	ICGC,
chr1	192805367	192805367	G	A	intergenic	RGS2,UCHL5	unknown	SNV	-	-	-	6.46e-05	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	hematopoietic system phenotype,mortality/aging	Suicide, association with|Platelet Gs hypofunction|Metabolic syndrome, susceptibility, association|Hypertension, association with|Hypertension|Antipsychotic-induced parkinsonism, association with,-	ICGC,
chr9	27324202	27324202	C	T	intergenic	EQTN,MOB3B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	ICGC,
chr17	76693696	76693696	-	G	intronic	CYTH1	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN22869255	-	-	-	-	nervous system phenotype	-	COSMIC,
chr2	108693480	108693480	A	T	intergenic	SLC5A7,SULT1C3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6201137	-	LIRI-JP|1|258|0.00388	-	-	integument phenotype,-	Schizophrenia|Reduced transport rate|Hereditary motor neuropathy, type VII,Autism spectrum disorder	COSMIC,ICGC,
chr5	19706421	19706421	T	C	intronic	CDH18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	Anorectal malformation	ICGC,
chr6	66184942	66184942	-	T	intronic	EYS	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN23039385	-	-	-	-	-	Cone-rod dystrophy, autosomal recessive.|Leber congenital amaurosis|Retinitis pigmentosa|Retinitis pigmentosa, autosomal recessive |Retinitis pigmentosa, autosomal recessive/Leber congenital amaurosis	COSMIC,
chr17	43141699	43141699	G	A	intronic	NMT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging	-	ICGC,
chr10	92723193	92723193	C	T	intergenic	ANKRD1,LINC00502	unknown	SNV	-	-	-	-	rs771197571	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	muscle phenotype,-	Total anomalous pulmonary venous return|Neurodevelopmental disorder and renal disease |Neurodevelopmental disorder  |Dilated cardiomyopathy|Cardiomyopathy, hypertrophic|Cardiomyopathy, dilated,-	ICGC,
chr4	79219257	79219257	A	T	intronic	FRAS1	unknown	SNV	-	-	-	0.3088	rs12511808	-	0.321286	-	-	-	-	LAML-KR|1|205|0.00488	-	-	integument phenotype	Renal agenesis |Fraser syndrome/Ablepharon macrostomia syndrome|Fraser syndrome	ICGC,
chrX	637452	637452	-	AAAAATAAAAAAAAA	intergenic	SHOX,CRLF2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,mortality/aging	Tall stature |Short stature, mental retardation & facial dysmorphisms|Short stature without Madelung deformity|Short stature|Multiple congenital anomalies, skeletal|Mayer-Rokitansky-Küster-Hauser syndrome I|Madelung deformity|Leri-Weill dyschondrosteosis with short stature|Leri-Weill dyschondrosteosis|Langer mesomelic dysplasia|Dyschondrosteosis,-	ICGC,
chr3	39318273	39318273	A	G	intronic	CX3CR1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	integument phenotype	Altered serum fractalkine levels|Obesity, association with|No association with cerebral infarction|Myocardial infarction, protection against, association with.|Macular degeneration, exudative age-related, association with|Macular degeneration, age-related, association with|HIV infection, susceptibility to, association|Developmental dysplasia ?|Amyotrophic lateral sclerosis, modifier of|Carotid atherosclerosis, reduced risk, association with|Childhood otitis media, susceptibility to|Coronary artery disease, early onset, association with.|Coronary artery disease, protection against, association with.	ICGC,
chr16	16953672	16953672	C	A	intergenic	NPIPA7,XYLT1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8180426	-	PACA-CA|1|268|0.00373	-	-	-,-	-,Decreased serum glycosaminoglycan levels, association with|Desbuquois dysplasia type 2|Diabetes, type 1, protection, association |Diabetic nephropathy protection |Increased serum XT1 activity in pseudoxanthoma elasticum, association|Short stature & intellectual disability	COSMIC,ICGC,
chr15	59814892	59814892	G	A	UTR3	FAM81A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	-	ICGC,
chr3	105529412	105529412	-	A	intronic	CBLB	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN27402602	-	-	-	-	integument phenotype	Diabetes, type 1	COSMIC,
chr3	70128409	70128409	T	C	intergenic	LINC01212,FOXP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,Speech delay, contractures, hypertonia & blepharophimosis|Mental retardation, speech and language deficits|Intellectual disability & autism|Intellectual disability|Delayed speech/motor development & Chiari I malformation|Congenital heart defects|Childhood apraxia of speech|Autism, speech delay and deficit of motor coordination|Autism spectrum disorder  	ICGC,
chr2	199267403	199267403	A	C	intergenic	LOC101927619,SATB2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,mortality/aging	-,Toriello-Carey syndrome|Pierre Robin sequence  |Intellectual disability, nonsyndromic|Dentofacial abnormalities|Cleft palate, osteoporosis and cognitive defects|Cleft palate|Autism spectrum disorder	ICGC,
chr3	23671473	23671473	G	A	intergenic	MIR548AC,UBE2E1-AS1	unknown	SNV	-	-	-	-	rs555232014	-	0.000199681	-	-	COSN26114329	-	PRAD-UK|1|140|0.00714	-	-	-,-	-,-	COSMIC,ICGC,
chr10	3207490	3207490	G	A	exonic	PITRM1	synonymous	SNV	-	-	1.953e-05	-	rs768970533	5.163e-05	-	-	-	-	STAD|1|395|0.00253,STES|1|395|0.00253	-	-	-	-	-	TCGA,
chr2	187682587	187682587	C	G	intergenic	FAM171B,ZSWIM2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr10	36481675	36481675	T	C	intergenic	LINC01452,ANKRD30A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr12	8599611	8599611	A	G	intergenic	LINC00937,CLEC6A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7385061	-	PACA-AU|1|391|0.00256	-	-	-,mortality/aging	-,-	COSMIC,ICGC,
chr12	64611564	64611564	G	A	intronic	C12orf66	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,PBCA-US|1|186|0.00538	-	-	-	Tetralogy of Fallot	ICGC,
chr2	42477476	42477476	A	T	intronic	EML4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-UK|1|140|0.00714	-	-	-	-	ICGC,
chr1	96675730	96675730	G	A	intergenic	LOC100996635,LOC101928241	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	167353570	167353570	C	T	intronic	TENM2	unknown	SNV	-	-	-	0.0007	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr2	39223374	39223374	G	A	intronic	SOS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25392186	-	MALY-DE|1|241|0.00415	-	-	integument phenotype	Ulerythema ophryogenes in Noonan syndrome.|Reduced activity|Noonan syndrome|Gingival fibromatosis|Diabetes, type 2, association with|Congenital heart disease|Cardiomyopathy, hypertrophic.|Cardiomyopathy, hypertrophic|Cardio-facio-cutaneous syndrome|Autism spectrum disorder	COSMIC,ICGC,
chr9	93973731	93973731	A	T	intergenic	LOC100129316,AUH	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,3-methylglutaconic aciduria type 1	ICGC,
chr13	34168148	34168148	G	A	intronic	STARD13	unknown	SNV	-	-	-	0.0364	rs147975101	-	0.0505192	-	0.043	COSN24826957	-	GACA-CN|1|123|0.00813	-	-	mortality/aging	Schizophrenia	COSMIC,ICGC,
chr2	77073984	77073984	A	G	intronic	LRRTM4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-	-	ICGC,
chr1	169053303	169053303	C	T	ncRNA_intronic	LINC00970	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr7	135566562	135566562	A	T	intergenic	FAM180A,LUZP6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	OV-AU|1|93|0.01075	-	-	-,-	-,-	ICGC,
chr16	8578765	8578765	C	T	intergenic	RBFOX1,TMEM114	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Muscular and feet abnormalities|Mental retardation|Epilepsy, rolandic  |Epilepsy|Developmental delay, facial dysmorphism  |Developmental delay and transposition of the great arteries|Developmental delay and diplegia|Developmental delay and craniosynostosis|Developmental delay  |Cardiac defects|Cardiac abnormalities, micrognathia and scoliosis|Autism spectrum disorder|Autism|Attention deficit hyperactivity disorder ,Developmental delay|Cataract, congenital	ICGC,
chr11	55340696	55340696	T	C	downstream	OR4C16	unknown	SNV	-	-	-	6.456e-05	rs182832405	-	0.000199681	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	Potential protein deficiency	ICGC,
chr3	143569575	143569575	G	A	intergenic	SLC9A9,C3orf58	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Attention deficit hyperactivity disorder|Autism |Autism spectrum disorder  ,-	ICGC,
chr2	176419253	176419253	C	A	intergenic	ATP5G3,KIAA1715	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9117566	-	OV-AU|1|93|0.01075	-	-	-,mortality/aging	-,-	COSMIC,ICGC,
chr6	108089086	108089086	T	C	intronic	SCML4	unknown	SNV	-	-	-	0.0011	rs111689295	-	0.000399361	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	-	ICGC,
chr13	115090796	115090796	C	T	exonic	CHAMP1	synonymous	SNV	-	-	-	-	rs142049023	8.243e-06	-	7.7e-05	-	COSM3467487	SKCM|1|368|0.00272	SKCM-US|1|335|0.00299	-	-	-	Potential protein deficiency	COSMIC,TCGA,ICGC,
chr4	60247343	60247343	A	C	intergenic	NONE,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332,GACA-CN|1|123|0.00813	-	-	-,-	-,-	ICGC,
chr10	37944460	37944460	A	T	intergenic	MTRNR2L7,ZNF248	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20223390	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	COSMIC,ICGC,
chr1	19432315	19432315	G	C	exonic	UBR4	unknown	SNV	0.005	0.713	4.29e-06	-	rs781047474	1.051e-05	-	-	-	COSM5977890	-	-	-	-	mortality/aging	Episodic ataxia   	COSMIC,COSMIC,COSMIC,COSMIC,
chr5	171519621	171519621	G	A	intronic	STK10	unknown	SNV	-	-	-	0.0005	rs774867001	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	immune system phenotype	Schizophrenia|Decreased pro-apoptotic activity|Asthma, aspirin-intolerant, reduced risk	ICGC,
chr18	63235961	63235961	T	C	intergenic	LOC284294,CDH7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr2	130254674	130254674	A	C	intergenic	LOC151121,LOC389033	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr11	89100632	89100632	G	T	intronic	NOX4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging	-	ICGC,
chr9	103610225	103610225	G	A	intergenic	MURC,LPPR1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Cardiomyopathy, dilated,-	ICGC,
chr1	171876752	171876752	G	A	intronic	DNM3	unknown	SNV	-	-	-	0.0001	rs537073637	-	0.000399361	-	-	COSN23416111	-	EOPC-DE|2|202|0.00990	-	-	mortality/aging	Reduced promoter activity	COSMIC,COSMIC,ICGC,
chr4	75147178	75147178	A	C	exonic	MTHFD2L	nonsynonymous	SNV	0.028	0.537	-	-	-	-	-	-	-	COSM6716405	-	-	-	-	-	-	COSMIC,COSMIC,
chr7	152926907	152926907	C	T	intergenic	ACTR3B,DPP6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,nervous system phenotype	-,Autism spectrum disorder  |Schizophrenia  |Ventricular fibrillation, idiopathic 	ICGC,
chrX	80450432	80450432	G	A	intronic	HMGN5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	no phenotypic analysis	-	ICGC,
chr4	11835151	11835151	C	T	intergenic	HS3ST1,RAB28	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	-,Breast cancer risk, association with |Cone-rod dystrophy, autosomal recessive	ICGC,
chr4	69707689	69707689	G	A	intergenic	UGT2B10,UGT2A3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Autism|Lower nicotine consumption in smokers|Potential protein deficiency|Reduced enzyme activity,Reduced enzyme activity	ICGC,
chr21	24597286	24597286	G	T	intergenic	LINC00308,D21S2088E	unknown	SNV	-	-	-	3.233e-05	rs527742248	-	0.000199681	-	-	-	-	RECA-EU|1|422|0.00237	-	-	-,-	-,-	ICGC,
chr9	83808451	83808451	C	T	intergenic	LOC101927477,TLE1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24709051	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	COSMIC,ICGC,
chr17	74868892	74868892	G	A	exonic	MGAT5B	nonsynonymous	SNV	0.164	0.005	-	3.229e-05	-	-	-	-	-	COSM2743878	-	GACA-JP|1|585|0.00171	-	-	homeostasis/metabolism phenotype	-	COSMIC,ICGC,
chr3	131616854	131616854	G	A	intronic	CPNE4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr20	18537469	18537469	C	T	intronic	SEC23B	unknown	SNV	-	-	-	0.0001	rs190209678	-	0.000199681	-	-	COSN16560759	-	PACA-CA|1|268|0.00373	-	-	mortality/aging	Anaemia, dyserythropoietic congenital, type II|Anaemia  	COSMIC,COSMIC,ICGC,
chrX	110268789	110268789	G	A	intronic	PAK3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	behavior/neurological phenotype	Mental retardation syndrome, X-linked|Mental retardation with neuropsychiatric features	ICGC,
chr11	42311561	42311561	C	T	intergenic	LOC100507205,HNRNPKP3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr18	73367105	73367105	A	T	intergenic	SMIM21,LOC339298	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	ICGC,
chr9	80706373	80706373	G	A	intergenic	GNAQ,CEP78	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23404997	-	EOPC-DE|1|202|0.00495	-	-	integument phenotype,-	Potential protein deficiency|Increased promoter activity, association with|Developmental delay  |Decreased transcription|Decreased insulin resistance and BMI in PCOS, association with|Cardiac hypertrophy,-	COSMIC,ICGC,
chr20	4951021	4951021	T	A	intronic	SLC23A2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	-	ICGC,
chr5	2077159	2077159	G	A	intergenic	MIR548BA,LOC100506858	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	115746271	115746271	G	T	intergenic	LOC101927190,SEMA6A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,vision/eye phenotype	-,-	ICGC,
chr8	112610154	112610154	A	T	intergenic	KCNV1,CSMD3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25089251	-	MALY-DE|1|241|0.00415	-	-	behavior/neurological phenotype,-	-,Schizophrenia  |Colorectal cancer 	COSMIC,ICGC,
chr9	86919379	86919379	A	C	intronic	SLC28A3	unknown	SNV	-	-	-	0.0006	rs556804703	-	0.000798722	-	-	COSN23144912	-	PACA-AU|1|391|0.00256,MALY-DE|1|241|0.00415	-	-	-	Reduced sodium-binding capacity	COSMIC,COSMIC,ICGC,
chr2	218366203	218366203	C	T	ncRNA_intronic	DIRC3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Renal cell cancer	ICGC,
chr13	57024174	57024174	G	T	intergenic	MIR5007,PRR20A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr7	20662622	20662622	C	T	intronic	ABCB5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-	Autism spectrum disorder	ICGC,
chr16	65740369	65740369	C	A	intergenic	LINC00922,CDH5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5836447	-	LINC-JP|1|394|0.00254	-	-	-,integument phenotype	-,Autism|Haemorrhagic fever with renal syndrome, reduced severity, association with|Schizophrenia	COSMIC,ICGC,
chr4	180537521	180537521	T	A	intergenic	LINC01098,LINC00290	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	-,-	-,-	ICGC,
chr2	25161542	25161542	-	T	intergenic	ADCY3,DNAJC27	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PRAD-UK|1|140|0.00714	-	-	mortality/aging,-	Body mass index, association with ,-	ICGC,
chr1	209478491	209478491	G	A	intergenic	PLXNA2,MIR205HG	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	vision/eye phenotype,-	Tetralogy of Fallot,-	ICGC,
chr8	13748852	13748852	T	G	intergenic	C8orf48,SGCZ	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,Cervical artery dissection	ICGC,
chr1	204243095	204243096	TG	-	intronic	PLEKHA6	unknown	deletion	-	-	-	0.0067	rs567851248	-	0.00698882	-	-	-	-	PBCA-US|2|186|0.01075	-	-	-	Schizophrenia	ICGC,
chr7	81347236	81347236	T	C	intronic	HGF	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	mortality/aging	Systemic sclerosis with end-stage lung disease, assoc with|Lymphoedema |Hearing loss, non-syndromic|Breast cancer, earlier onset, association with	ICGC,
chr8	32793781	32793781	A	T	intergenic	NRG1,FUT10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	EOPC-DE|1|202|0.00495	-	-	integument phenotype,-	Sudden cardiac death, association with|Schizophrenia, association with  |Schizophrenia in African Americans, association with|Prepulse inhibition, association with|Perceptual aberration of schizotypal personality, association with|Increased lateral ventricle volume in schizophrenia|Hirschsprung disease|Developmental delay, hypotonia & microcephaly|Alzheimers disease, association with,-	ICGC,
chr7	44579897	44579897	G	A	exonic	NPC1L1	synonymous	SNV	-	-	2.036e-05	-	rs148248125	2.475e-05	-	7.7e-05	-	COSM6280011	-	LICA-CN|1|402|0.00249	-	-	digestive/alimentary phenotype	Potential protein deficiency|Partial lipodystrophy  |Low dietary cholesterol absorption|Increased serum cholesterol, association with   |Hypercholesterolaemia, association with|High dietary cholesterol absorption|High cholesterol absorption|Ezetimibe non-response 	COSMIC,ICGC,
chr13	64874821	64874821	-	CACA	intergenic	OR7E156P,PCDH9	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr9	31508561	31508561	G	A	intergenic	LINC01242,ACO1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Schizophrenia	ICGC,
chr3	182141711	182141711	G	T	intergenic	LINC01206,FLJ46066	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15947258	-	-	-	-	-,-	-,-	COSMIC,
chr2	174819859	174819859	C	T	exonic	SP3	nonsynonymous	SNV	1.0	0.0	-	-	-	-	-	-	-	COSM2893868	-	-	-	-	integument phenotype	-	COSMIC,
chr4	175266522	175266522	C	A	intergenic	CEP44,MIR4276	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr2	36717277	36717277	C	G	intronic	CRIM1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5130716	-	BRCA-UK|1|141|0.00709,BRCA-EU|1|569|0.00176	-	-	integument phenotype	-	COSMIC,COSMIC,ICGC,
chrX	65632035	65632035	C	T	intergenic	HEPH,EDA2R	unknown	SNV	-	-	-	9.155e-05	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	hematopoietic system phenotype,normal phenotype	-,Hypohidrotic ectodermal dysplasia|Mental retardation, X-linked 	ICGC,
chr4	190544046	190544046	C	T	intergenic	LINC01060,LINC01262	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|3|183|0.01639	-	-	-,-	-,-	ICGC,
chr12	27124680	27124680	T	C	UTR3	TM7SF3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1568730	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr2	69275243	69275243	C	G	intronic	ANTXR1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24108756	-	BRCA-FR|1|72|0.01389	-	-	mortality/aging	Autism|GAPO syndrome|Haemangioma, infantile	COSMIC,ICGC,
chrX	143932837	143932837	G	A	intergenic	UBE2NL,SPANXN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	Potential protein deficiency,-	ICGC,
chr4	44715081	44715081	C	A	intronic	GNPDA2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21076167	-	BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr8	5428365	5428365	T	-	intergenic	CSMD1,LOC100287015	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	Schizophrenia, association with |Hyperinsulinism|Autism|Attention deficit hyperactivity disorder ,-	ICGC,
chr8	43305305	43305305	C	T	intergenic	POTEA,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	ICGC,
chr1	90957596	90957596	T	A	intergenic	ZNF326,BARHL2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24816034	-	GACA-CN|1|123|0.00813	-	-	-,mortality/aging	Schizophrenia,-	COSMIC,ICGC,
chr1	6454559	6454559	A	T	upstream	ACOT7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr9	24291962	24291962	A	G	intergenic	ELAVL2,IZUMO3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	Schizophrenia, association with  ,-	ICGC,
chr20	37334440	37334440	G	A	intergenic	ARHGAP40,SLC32A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,-	ICGC,
chr12	91371905	91371905	C	T	exonic	EPYC	synonymous	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	Schizophrenia	ICGC,
chr21	26157233	26157233	G	A	intergenic	LOC101927869,LOC339622	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|3|183|0.01639	-	-	-,-	-,-	ICGC,
chr1	70531782	70531782	G	A	intronic	LRRC7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	-	ICGC,
chr2	139471318	139471318	G	A	intronic	NXPH2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr9	112047629	112047629	C	T	intronic	EPB41L4B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr8	73463751	73463751	G	C	intronic	KCNB2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	behavior/neurological phenotype	Tetralogy of Fallot	ICGC,
chr8	38730894	38730894	A	G	intergenic	TACC1,PLEKHA2	unknown	SNV	-	-	-	0.2897	rs7008738	-	0.229832	-	0.254	-	-	LAML-KR|1|205|0.00488	-	-	-,cardiovascular system phenotype	-,-	ICGC,
chr6	35959823	35959823	A	G	intronic	SLC26A8	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6319432	-	LIRI-JP|1|258|0.00388	-	-	reproductive system phenotype	Asthenozoospermia 	COSMIC,ICGC,
chr3	14631562	14631562	G	A	intergenic	GRIP2,CCDC174	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype,mortality/aging	-,-	ICGC,
chr1	115058776	115058776	A	G	intergenic	TRIM33,BCAS2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19327749	-	LICA-FR|1|252|0.00397	-	-	mortality/aging,-	-,-	COSMIC,ICGC,
chr12	128132568	128132568	G	A	intergenic	LOC101927637,FLJ37505	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr7	152070317	152070317	A	G	intronic	KMT2C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-	-	ICGC,
chr10	67118376	67118376	G	A	intergenic	ANXA2P3,LOC101928913	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr8	41521511	41521511	C	T	intronic	ANK1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Schizophrenia|Spherocytosis|Spherocytosis, psychomotor developmental delay & facial features	ICGC,
chr3	82963439	82963439	T	G	intergenic	GBE1,LINC00971	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging,-	Potential protein deficiency|Polyglucosan body disease, relapsing-remitting form|Polyglucosan body disease, adult|Lethal multiple pterygium syndrome|Glycogen storage disease 4, non-lethal neuromuscular|Glycogen storage disease 4, neonatal|Glycogen storage disease 4|Autism spectrum disorder|Adult polyglucosan body disease,-	ICGC,
chr12	19475464	19475464	C	A	exonic	PLEKHA5	nonsynonymous	SNV	0.021	0.971	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	reproductive system phenotype	-	ICGC,
chr8	136222323	136222323	C	A	intergenic	MIR30D,LOC286094	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27063484	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr18	842661	842661	G	A	intergenic	YES1,ADCYAP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,mortality/aging	-,Sudden infant death syndrome, association with	ICGC,
chr2	124880304	124880304	A	C	intronic	CNTNAP5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Autism	ICGC,
chr11	81728846	81728846	A	G	ncRNA_intronic	LOC101928989	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25061173	-	MALY-DE|1|241|0.00415	-	-	-	-	COSMIC,ICGC,
chr17	70133547	70133547	G	A	intergenic	SOX9,LINC00673	unknown	SNV	-	-	-	6.46e-05	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,-	Female-to-male ovotesticular disorder of sex development|Gonadal dysgenesis |Male-to-female disorder of sex development|Pierre Robin sequence|Pierre Robin sequence & hypoplastic left scapula|Prostate cancer, association with |Robin sequence, hypoplastic scapulae & rib anomalies|XY gonadal dysgenesis|XY sex reversal  |Disorder of sex development without campomelic dysplasia|Campomelic dysplasia with XY reversal|46,XX developmental testicular disorder|46,XX, SRY negative infertility|Acampomelic campomelic dysplasia|Acampomelic campomelic dysplasia with true hermaphroditism|Acampomelic campomelic dysplasia with XY reversal|Altered transcription factor binding|Brachydactyly-anonychia|Campomelic dysplasia|Campomelic dysplasia with small patella syndrome,-	ICGC,
chr2	104856126	104856126	G	A	intergenic	TMEM182,LOC100287010	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr20	1558079	1558079	C	T	intronic	SIRPB1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr13	90358591	90358591	A	G	intergenic	LINC00353,LINC00559	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chrX	98321509	98321509	C	T	intergenic	DIAPH2,XRCC6P5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN4793587	-	MALY-DE|1|241|0.00415	-	-	cardiovascular system phenotype,-	Premature ovarian failure,-	COSMIC,ICGC,
chr14	41769109	41769109	C	T	intergenic	LOC644919,LRFN5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,Short stature|Developmental delay, seizures & learning problems 	ICGC,
chr7	16566666	16566666	G	T	exonic	LRRC72	nonsynonymous	SNV	0.054	-	-	-	-	-	-	-	-	COSN26963669	-	-	-	-	-	-	COSMIC,
chr12	32302195	32302195	-	CGAAA	intronic	BICD1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	Shorter telomere length, association with	ICGC,
chr12	70265235	70265235	A	G	intergenic	RAB3IP,LOC101928062	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	normal phenotype,-	-,-	ICGC,
chr18	6354846	6354846	A	T	intronic	L3MBTL4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-	-	ICGC,
chr4	8579528	8579528	C	T	intergenic	TRMT44,GPR78	unknown	SNV	-	-	-	-	rs564891128	-	0.000998403	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Partial epilepsy with pericentral spikes,-	ICGC,
chr3	126534484	126534484	-	G	intronic	CHCHD6	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	-	-	ICGC,
chr16	87167086	87167086	G	C	intergenic	FOXL1,LOC101928708	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22338277	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging,-	Hypoplastic left heart syndrome,-	COSMIC,ICGC,
chr12	78737553	78737553	G	T	intergenic	NAV3,SYT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-,mortality/aging	-,-	ICGC,
chr14	37324225	37324225	G	A	intronic	SLC25A21	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype	Synpolydactyly	ICGC,
chr6	170744219	170744219	G	A	intergenic	FAM120B,PSMB1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Autism spectrum disorder,-	ICGC,
chr5	91082023	91082023	T	C	intergenic	ARRDC3-AS1,NR2F1-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr17	68990945	68990945	A	G	intergenic	KCNJ2,CASC17	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	Long QT syndrome|Long QT syndrome.|Periodic paralysis|Short QT syndrome|Short QT syndrome 3|Sudden cardiac death  |Ventricular tachycardia|Catecholaminergic polymorphic ventricular tachycardia.|Atrial fibrillation.|Andersen syndrome|Andersen syndrome & catecholaminergic polymorphic ventricular tachycardia mimickry|Andersen-Tawil syndrome|Andersen-Tawil syndrome, without cardiac involvement|Andersen-Tawil syndrome.|Arrhythmia|Atrial fibrillation,-	ICGC,
chr17	76518890	76518890	G	A	intronic	DNAH17	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr2	30523685	30523685	G	A	intergenic	LBH,LOC285043	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Tetralogy of Fallot,-	ICGC,
chr3	178704834	178704834	G	A	intergenic	KCNMB2,ZMAT3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	49874126	49874126	C	T	intergenic	FSHR,NRXN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype,mortality/aging	Ovarian hyperstimulation syndrome|Ovarian hyperstimulation syndrome, association with|PCOS, association|PCOS, association with|Poor ovarian response to gonadotrophin stimulation, association|Premature ovarian failure|Premature ovarian failure, association with|Premature ovarian failure, early-onset|Primary amenorrhea|Reduced mRNA and protein expression, association with|Secondary amenorrhea|Serum FSH levels, association with|Sterility|Twinning, dizygotic|Ovarian hyperstimulation response, association with|Ovarian cancer, association with|Ovarian cancer susceptibility, association with|Decr. total testes volume and altered serum reproductive hormone levels, in men, association with.|Decreased promoter activity|Endometriosis risk, association with|Endometriosis, risk, association with|FSHR activation|FSHR inactivation|Hormone levels in PCOS, association with|Hypergonadotropic hypogonadism|Menstrual cycle, length, association with|Lower basal FSH level, association with|Increased serum FSH levels, association with|Increased promoter activity|Hypertension, female, association with|Hypergonadotropic ovarian failure,Hypotonia|Hypotonia & encephalopathy|Increased white matter volume, association with|Intellectual disability  |Intellectual disability & attention deficit hyperactivity disorder|Intellectual disability & hearing loss|Intellectual disability & pervasive developmental disorder|Intellectual disability and autism|Intellectual disability, nonsyndromic |Intellectual disability, seizures, dysmorphisms & language delay|Growth retardation  |Epilepsy, myoclonic seizures & speech delay|Developmental disorder|Developmental disorder & attention deficit hyperactivity disorder|Developmental disorder, seizures & attention deficit hyperactivity disorder|Developmental/intellectual disability, hypotonia & dysmorphic features|Disorder of muscle, ligament & fascia|Encephalopathy  |Epilepsy  |Epilepsy with cognitive impairment / autism spectrum disorder|Epilepsy with focal seizures|Epilepsy, generalised |Intellectual disability, seizures, language delay & hypotonia|Language delay|Learning difficulties|Respiratory distress & sepsis|Respiratory distress syndrome|Schizophrenia |Schizophrenia, childhood onset |Schizophrenia, disorganised type|Seizures, generalized tonic-clonic & attention deficit hyperactivity disorder|Sensory integration disorder & attention deficit hyperactivity disorder|Speech delay & social communication difficulties|Tourette syndrome|Pervasive developmental disorder / hypotonia|Pervasive developmental disorder|Pervasive developmental delay / mental retardation, lack of coordination & hearing loss|Learning difficulties, ADHD & autism|Mental retardation|Mental retardation, autism, vertebral malformations|Mental retardation, Pitt-Hopkins-like|Microcephaly & mental retardation|Multiple congenital anomalies  |Multiple disabilities|Myoclonic epilepsy   |Neurodevelopmental disorder  |Vertebral anomalies|Developmental delay, speech delay & social communication difficulties|Attention deficit hyperactivity disorder |Autism spectrum disorder, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability & language delay|Autism spectrum disorder, intellectual disability, dysmorphisms, developmental delay & language delay|Autism spectrum disorder, intellectual disability, seizures & developmental delay|Autism spectrum disorder, intellectual disability, seizures, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability, seizures, dysmorphisms & language delay|Autism spectrum disorder, seizures, developmental delay & language delay|Autism, intellectual disability & attention deficit hyperactivity disorder|Autistic disorder|Autism spectrum disorder with developmental & speech delay|Autism spectrum disorder & seizures|Autism spectrum disorder & language delay|Autism |Autism & learning difficulties|Autism & mental retardation|Autism & seizures|Autism spectrum disorder|Autism spectrum disorder & attention deficit hyperactivity disorder|Autism spectrum disorder & developmental delay|Autism spectrum disorder & dysmorphic features|Autism spectrum disorder & intellectual disability|Behavioural problems|Congenital heart defect  |Craniofacial dysmorphism|Developmental delay & speech/motor delay|Developmental delay with early-onset epilepsy|Developmental delay, dysmorphic features & short stature|Developmental delay, epilepsy, autism|Developmental delay, language delay & hypotonia|Developmental delay, learning difficulties, ADHD|Developmental delay, microcephaly & behavioural problems|Developmental delay, pulmonic stenosis & autism spectrum disorder|Developmental delay, short stature and diaphragmatic hernia|Developmental delay, speech delay & microcephaly|Developmental delay & seizures|Developmental delay & seizure disorder|Cystic hygroma, hydrops & micrognathia|Cystic hygroma, shortened upper limbs & fetal demise|Developmental & speech delay|Developmental delay|Developmental delay / autism|Developmental delay & autism|Developmental delay & dysmorphic features|Developmental delay & epilepsy|Developmental delay & hypotonia|Developmental delay & multiple congenital anomalies	ICGC,
chr19	54716073	54716073	G	-	intergenic	RPS9,LILRB3	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-,hematopoietic system phenotype	-,-	ICGC,
chr11	49757861	49757861	C	T	ncRNA_intronic	LOC440040	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|3|183|0.01639	-	-	-	-	ICGC,
chrX	92745814	92745814	T	A	intergenic	PCDH11X,NAP1L3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	Absent speech, intellectual disability & behavioural problems|Attention deficit hyperactivity disorder & obsessive compulsive disorder|Developmental dyslexia |Language delay, nonsyndromic ,-	ICGC,
chr8	133137046	133137046	A	C	UTR3	KCNQ3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	mortality/aging	Seizures, benign infantile|Intellectual disability, nonsyndromic|Epilepsy, rolandic without neonatal seizures|Epilepsy, rolandic & benign neonatal convulsions|Epilepsy, idiopathic  |Epilepsy, benign neonatal|Benign familial neonatal convulsions	ICGC,
chr7	83592384	83592384	C	G	intronic	SEMA3A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	mortality/aging	Unexplained cardiac arrest, association with|Short stature & multiple congenital anomalies|Kallmann syndrome|Hirschsprung disease   |Crypt frequency in the iris, association with	ICGC,
chr5	38960359	38960359	C	A	intronic	RICTOR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging	-	ICGC,
chr8	144992778	144992778	C	A	exonic	PLEC	synonymous	SNV	-	-	-	-	-	-	-	-	-	-	HNSC|1|512|0.00195	-	-	-	integument phenotype	Sertoli-cell-only syndrome|Muscular dystrophy with epidermolysis bullosa|High HDL cholesterol|Epidermolysis bullosa with pyloric atresia|Epidermolysis bullosa with muscular dystrophy and pyloric atresia|Epidermolysis bullosa with muscular dystrophy and myasthenic syndrome|Epidermolysis bullosa with muscular dystrophy & myasthenic syndrome|Epidermolysis bullosa with muscular dystrophy  |Epidermolysis bullosa simplex|Epidermolysis bullosa & congenital myasthenic syndrome	TCGA,
chr19	22980040	22980040	G	A	intergenic	ZNF99,ZNF728	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Potential protein deficiency,-	ICGC,
chr5	4352199	4352199	A	G	intergenic	IRX1,LOC101929153	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2107047	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr2	71283215	71283215	G	A	intergenic	OR7E91P,NAGK	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,normal phenotype	-,-	ICGC,
chr11	129468376	129468376	G	A	intergenic	BARX2,LINC01395	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	-,-	ICGC,
chr4	60417676	60417676	G	A	intergenic	NONE,LPHN3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,behavior/neurological phenotype	-,-	ICGC,
chr14	72441446	72441446	G	A	intronic	RGS6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	cardiovascular system phenotype	Increased protein expression	ICGC,
chr8	130245794	130245794	T	A	ncRNA_intronic	LINC00977	unknown	SNV	-	-	-	0.2032	rs4374953	-	0.256989	-	0.196	COSN20477747	-	COCA-CN|1|321|0.00312,LAML-KR|1|205|0.00488	-	-	-	-	COSMIC,ICGC,
chr20	1330575	1330575	-	CTCT	ncRNA_intronic	FKBP1A-SDCBP2,SDCBP2-AS1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr9	22029193	22029193	G	A	ncRNA_intronic	CDKN2B-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6384656	-	LIRI-JP|1|258|0.00388	-	-	-	Stroke, association with|Coronary artery disease, association with	COSMIC,ICGC,
chr11	49964253	49964253	C	T	intergenic	LOC440040,OR4C13	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr11	43446920	43446920	C	T	intronic	TTC17	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr17	45925664	45925664	G	T	exonic	SP6	synonymous	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	integument phenotype	-	ICGC,
chrX	25990035	25990035	G	A	intergenic	ARX,MAGEB18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Infantile spasms & intellectual disability|Intellectual disability & dystonia|Intellectual disability, X-linked|Lissencephaly, X-linked, with abnormal genitalia|Mental retardation|Mental retardation and epilepsy|Neurodegeneration   |Neurodegeneration with Ohtahara syndrome and mov disord|Ohtahara syndrome|Ohtahara syndrome with developmental delay|Partington syndrome|Infantile spasm syndrome, X-linked|Generalized dystonia without infantile spasms|ACC, epilepsy, abnormal genitalia|ACC, infantile spasms & abnormal genitalia|ACC, lissencephaly, seizures & genital hypoplasia|ACC, mental retardation, epilepsy & dyskinetic quadriparesis|Asymmetric polymicrogyria & periventricular nodular heterotopia|Autism spectrum disorder|Developmental delay and early hand preference.|Epilepsy, early-onset|Epilepsy, early-onset.|Epileptic encephalopathy, early infantile|Epileptic encephalopathy, early onset,-	ICGC,
chr5	20364895	20364895	G	C	intronic	CDH18	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16828173	-	PACA-CA|1|268|0.00373	-	-	-	Anorectal malformation	COSMIC,ICGC,
chr2	158410784	158410784	G	A	intronic	ACVR1C	unknown	SNV	-	-	-	0.0346	rs201407883	-	-	-	0.029	-	-	PBCA-DE|1|499|0.00200	-	-	mortality/aging	Glaucoma, primary congenital	ICGC,
chr1	223496527	223496527	G	A	intronic	SUSD4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr7	101015260	101015260	G	A	intronic	COL26A1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17565795	-	ESAD-UK|1|301|0.00332	-	-	-	-	COSMIC,ICGC,
chr9	27409292	27409292	C	-	intronic	MOB3B	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-	-	ICGC,
chr8	97937881	97937881	G	T	intronic	CPQ	unknown	SNV	-	-	-	0.0038	-	-	-	-	-	COSN25828582	-	EOPC-DE|2|202|0.00990	-	-	-	Mild mental retardation and generalised overgrowth	COSMIC,COSMIC,ICGC,
chr10	122708694	122708694	G	A	ncRNA_intronic	MIR5694	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr2	116811424	116811424	-	T	intergenic	DPP10,DDX18	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN26168554	-	-	-	-	-,-	Autism spectrum disorder,-	COSMIC,COSMIC,
chr10	67641037	67641037	G	A	intergenic	LOC101928913,CTNNA3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Tourette syndrome |Sinus venosus atrial septal defect|Neural tube defects|Cervical artery dissection|Autism spectrum disorder |Attention deficit hyperactivity disorder |Arrhythmogenic right ventricular cardiomyopathy|Alzheimer disease, increased risk, association with |Adenocarcinoma	ICGC,
chr4	110034770	110034770	T	A	intronic	COL25A1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25871631	-	EOPC-DE|1|202|0.00495	-	-	-	Potential protein deficiency	COSMIC,ICGC,
chr7	93401761	93401761	C	A	intergenic	MIR4652,TFPI2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	ICGC,
chr11	45099845	45099845	G	A	intergenic	LOC221122,PRDM11	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr16	53604852	53604852	C	A	intergenic	AKTIP,RPGRIP1L	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21118346	-	BRCA-EU|1|569|0.00176	-	-	-,mortality/aging	Schizophrenia,Retinitis pigmentosa, modifier of|Retinal degeneration in ciliopathies, association with|Meckel-Gruber syndrome|Meckel syndrome|Leber congenital amaurosis|Joubert syndrome|Bardet-Biedl syndrome 	COSMIC,ICGC,
chr3	191367216	191367216	A	G	intergenic	LINCR-0002,FGF12	unknown	SNV	-	-	-	0.6313	rs4687241	-	0.717652	-	0.674	COSN17604155	-	ESAD-UK|2|301|0.00664	-	-	-,behavior/neurological phenotype	-,-	COSMIC,ICGC,
chr14	94248308	94248308	A	G	intronic	PRIMA1	unknown	SNV	-	-	-	0.0006	-	-	-	-	-	COSN25725348	-	EOPC-DE|1|202|0.00495	-	-	respiratory system phenotype	-	COSMIC,ICGC,
chr6	160436925	160436925	C	T	intronic	IGF2R	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Pacreatic cancer, clinical outcome, association with |Foetal growth, association with|Diabetes, type 2, protection against, association with	ICGC,
chr18	46647963	46647963	G	A	intronic	DYM	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	skeleton phenotype	Dyggve-Melchior-Clausen syndrome |Smith-McCort dysplasia	ICGC,
chr7	137832765	137832765	-	A	intergenic	MIR4468,TRIM24	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|5|308|0.01623	-	-	-,cellular phenotype	-,-	ICGC,
chr7	127083831	127083831	T	A	intergenic	ZNF800,LOC100506682	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	82948079	82948079	C	T	intergenic	GBE1,LINC00971	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,-	Potential protein deficiency|Polyglucosan body disease, relapsing-remitting form|Polyglucosan body disease, adult|Lethal multiple pterygium syndrome|Glycogen storage disease 4, non-lethal neuromuscular|Glycogen storage disease 4, neonatal|Glycogen storage disease 4|Autism spectrum disorder|Adult polyglucosan body disease,-	ICGC,
chr12	83912894	83912894	T	G	intergenic	TMTC2,SLC6A15	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,reproductive system phenotype	-,Increased maximal 3H proline uptake	ICGC,
chr11	66436271	66436271	C	T	exonic	RBM4B	nonsynonymous	SNV	0.002	1.0	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr20	4308281	4308281	-	T	intergenic	ADRA1D,PRNP	unknown	insertion	-	-	-	0.0067	-	-	-	-	-	COSN27406171	-	-	-	-	behavior/neurological phenotype,mortality/aging	-,Pan-autonomic failure, sensory neuropathy & cognitive impairment|Leg hyperreflexia in Gerstmann-Sträussler-Scheinker syndrome|Gerstmann-Sträussler-Scheinker syndrome.|Gerstmann-Sträussler-Scheinker syndrome and Creutzfeldt-Jakob disease, rapidly progressive.|Gerstmann-Sträussler-Scheinker syndrome  presenting as familial Creutzfeldt-Jakob disease|Gerstmann-Straeussler-Scheinker syndrome|Gerstmann-Straeussler syndrome, association with|Gerstmann-Straeussler syndrome|Parkinson disease  |Presenile dementia and hypokinetic syndrome|Wilson disease, neurological, modifier of|Spongiform encephalopathy, familial|Schizoaffective disorder|PrP cerebral amyloid angiopathy|Progressive ataxo-spastic syndrome with mild cognitive impairment|Prion disease, resistance to, association with|Prion disease|Primary dementia with prominent frontotemporal signs|Gastric cancer|Fatal insomnia|Creutzfeldt-Jakob syndrome|Creutzfeldt-Jakob disease, slowly progressive.|Creutzfeldt-Jakob disease, rapidly progressive.|Creutzfeldt-Jakob disease, rapidly progressive, and Creutzfeldt-Jakob disease, slowly progressive.|Creutzfeldt-Jakob disease risk, association with|Atypical parkinsonism.|Alzheimer disease risk|Alzheimer disease|Creutzfeldt-Jakob syndrome, protection, association with|Creutzfeldt-Jakob syndrome, sporadic, association|Fatal familial insomnia, association with|Fatal familial insomnia|Encephalopathy, familial|Diarrhoea, autonomic failure & neuropathy|Dementia, young-onset|Dementia, neurodegenerative|Dementia|Creutzfeldt-Jakob syndrome.	COSMIC,
chr6	141607500	141607500	C	A	intergenic	MIR4465,NMBR	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25559054	-	MALY-DE|1|241|0.00415	-	-	-,behavior/neurological phenotype	-,-	COSMIC,ICGC,
chr7	1864317	1864317	C	G	intronic	MAD1L1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Lung cancer, association with	ICGC,
chr13	94322132	94322132	G	T	intronic	GPC6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-	Omodysplasia|Pancreatic cancer 	ICGC,
chr18	48605650	48605650	A	G	UTR3	SMAD4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25828165	-	EOPC-DE|1|202|0.00495	-	-	integument phenotype	Pulmonary arterial hypertension|Myhre syndrome|Laryngotracheal stenosis, arthropathy, prognathism & short stature|Juvenile polyposis syndrome/Ménétrier's disease.|Juvenile polyposis syndrome with thoracic aortic disease|Juvenile polyposis syndrome|Juvenile polyposis coli|Juvenile polyposis and haemorrhagic telangiectasia|Haemorrhagic telangiectasia|Gastrointestinal polyposis|Breast cancer 	COSMIC,ICGC,
chr14	33520437	33520437	G	A	intronic	NPAS3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	mortality/aging	Mental illness|Schizophrenia	ICGC,
chr13	39187797	39187797	T	C	intergenic	LINC00366,FREM2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,integument phenotype	-,Renal agenesis |Fraser syndrome|Colorectal cancer, increased risk, association with	ICGC,
chr14	31361698	31361698	-	A	intergenic	COCH,STRN3	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN22817166	-	-	-	-	hearing/vestibular/ear phenotype,-	Sensorineural hearing loss, nonsyndromic  |Progressive hearing loss|Hearing loss, unilateral|Hearing loss, non-syndromic progressive sensorineural, autosomal dominant|Deafness, non-syndromic, autosomal dominant|Deafness, non-syndromic ,-	COSMIC,
chr1	229843181	229843181	T	C	intergenic	URB2,GALNT2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22596420	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,Higher plasma HDL cholesterol  |Improved plasma triglyceride clearance	COSMIC,ICGC,
chr5	29578302	29578302	C	G	intergenic	LOC101929681,CDH6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,renal/urinary system phenotype	-,-	ICGC,
chr17	18571439	18571439	G	A	ncRNA_exonic	FOXO3B	unknown	SNV	-	-	-	0.0010	rs189443910	-	0.000399361	-	-	COSN6654411	-	-	-	-	-	-	COSMIC,
chr14	85062410	85062410	-	TA	intergenic	NONE,LINC00911	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN26329689	-	-	-	-	-,-	-,-	COSMIC,
chr7	4292820	4292820	G	A	intronic	SDK1	unknown	SNV	-	-	-	0.0022	rs151177652	-	0.00219649	-	-	COSN21061311	-	BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chrX	1614204	1614204	G	A	intronic	P2RY8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr2	206316282	206316282	A	G	intronic	PARD3B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	AIDS progression, protection, association with	ICGC,
chr6	143395103	143395103	G	A	intronic	AIG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr18	68900909	68900909	A	G	intergenic	GTSCR1,LOC100505776	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-,-	-,-	ICGC,
chr16	80819700	80819700	A	C	intronic	CDYL2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr16	64128743	64128743	A	C	intergenic	NONE,CDH11	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	-,-	ICGC,
chr3	97124856	97124856	T	C	intronic	EPHA6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	Alzheimer disease  	ICGC,
chr7	143855854	143855854	G	A	intergenic	OR2A14,CTAGE4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	ICGC,
chr4	148323158	148323158	G	A	intergenic	TTC29,EDNRA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,Reduced pulmonary function, in cystic fibrosis, association with|Myocardial infarction|Migraine, association with|Intracranial aneurysm, increased risk, association with|Hypertension, protection against, association with |Hernia, diaphragmatic |Congenital absence of the vas deferens, association with|Breast cancer, susceptibility to, association with|Adrenal hyperplasia, macronodular, ACTH-independent	ICGC,
chr18	40035292	40035292	C	T	ncRNA_intronic	LINC00907	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN18839353	-	-	-	-	-	-	COSMIC,
chr2	135615744	135615744	T	A	intronic	ACMSD	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Cortical myclonic tremor and epilepsy	ICGC,
chrX	55611536	55611536	G	A	intergenic	USP51,FOXR2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr7	106224098	106224098	C	T	intergenic	NAMPT,CCDC71L	unknown	SNV	-	-	-	0.4801	rs10248481	-	0.453474	-	0.493	-	-	LAML-KR|1|205|0.00488	-	-	mortality/aging,-	Reduced expression|Lower plasma levels of visfatin, association with|Coronary artery disease, reduced risk, association with,-	ICGC,
chr19	15961220	15961220	C	T	intergenic	UCA1,CYP4F2	unknown	SNV	-	-	-	3.231e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Warfarin responsiveness, association with|Warfarin dosage|Stroke, increased risk, association with|Ischemic stroke, increased risk|Ischaemic stroke, association with|Increased vitamin E-{omega}-hydroxylase activity to tocopherols|Increased arterial wave reflections in male Chinese, association|Decreased 20-HETE production, association with|Coumarin dose requirement, association with	ICGC,
chr3	2724915	2724915	G	A	intronic	CNTN4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16672451	-	PACA-CA|1|268|0.00373	-	-	nervous system phenotype	Spinocerebellar ataxia 16 |Features of 3p deletion syndrome|Autism spectrum disorder |Autism	COSMIC,COSMIC,ICGC,
chr2	117135202	117135202	G	A	intergenic	DPP10,DDX18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	Autism spectrum disorder,-	ICGC,
chr18	44100435	44100435	C	T	intronic	LOXHD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	Sensorineural hearing loss, nonsyndromic  |Progressive hearing loss, nonsyndromic|Hearing loss, non-syndromic, autosomal recessive|Fuchs corneal dystrophy, late-onset 	ICGC,
chr4	128066312	128066312	A	G	intergenic	MIR2054,INTU	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,mortality/aging	-,Anorectal malformation	ICGC,
chr20	53938825	53938825	T	A	intergenic	DOK5,LINC01441	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20304934	-	PAEN-AU|1|52|0.01923	-	-	-,-	-,-	COSMIC,ICGC,
chr4	28619399	28619399	G	T	intergenic	STIM2,MIR4275	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,-	-,-	ICGC,
chr21	25330151	25330151	T	C	intergenic	D21S2088E,LOC101927869	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr10	108996773	108996773	G	A	intergenic	SORCS1,RNU6-53P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	other phenotype,-	Autism ,-	ICGC,
chr5	78072833	78072833	C	T	downstream	ARSB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	hematopoietic system phenotype	Reduced activity|Pseudodeficient enzyme activity|Mucopolysaccharidosis VI	ICGC,
chr5	81249610	81249610	C	T	intergenic	SSBP2,ATG10	unknown	SNV	-	-	-	-	rs79574966	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	-,Breast cancer, reduced risk, association with	ICGC,
chr5	12743240	12743240	A	T	ncRNA_intronic	LINC01194	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr18	39102110	39102110	C	T	intergenic	KC6,PIK3C3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Intellectual disability  |Bipolar disorder/schizophrenia association with|Anti-Ro & anti-Sm antibodies, in lupus, in African-Americans, association	ICGC,
chr3	73639270	73639270	A	C	intronic	PDZRN3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr4	147918647	147918647	G	A	intergenic	TTC29,EDNRA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,Reduced pulmonary function, in cystic fibrosis, association with|Myocardial infarction|Migraine, association with|Intracranial aneurysm, increased risk, association with|Hypertension, protection against, association with |Hernia, diaphragmatic |Congenital absence of the vas deferens, association with|Breast cancer, susceptibility to, association with|Adrenal hyperplasia, macronodular, ACTH-independent	ICGC,
chr16	89220805	89220805	C	G	UTR3	ACSF3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25539213	-	MALY-DE|1|241|0.00415	-	-	-	Malonic & methylmalonic aciduria, combined	COSMIC,ICGC,
chr2	121955878	121955878	C	T	intergenic	GLI2,TFCP2L1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,mortality/aging	Hypopituitarism  |Hypopituitarism & ectopic posterior pituitary lobe|Hypopituitarism and/or post-axial polydactyly|Multiple pituitary hormone deficiency|Reduced transcriptional activity|Schizophrenia|Holoprosencephaly, lobar|Holoprosencephaly-like phenotype|Cleft lip |Craniofacial anomalies |Holoprosencephaly |Holoprosencephaly spectrum phenotype|Holoprosencephaly with anophthalmia, branchial arch anomalies & CNS anomalies|Holoprosencephaly with heminasal aplasia & orbital anomalies,-	ICGC,
chr3	179954555	179954555	G	A	intergenic	PEX5L,TTC14	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	behavior/neurological phenotype,-	-,-	ICGC,
chrX	57753470	57753470	G	T	intergenic	ZXDB,ZXDA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	ICGC,
chr16	51439516	51439516	G	A	intergenic	SALL1,LOC101927364	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332,MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Townes-Brocks syndrome|Renal hypodysplasia|Multiple congenital anomalies, CNS defects, cortical blindness, and absence of psychomotor development|Lenz microphthalmia syndrome|Goldenhar syndrome ,-	ICGC,
chr11	97651628	97651628	T	G	intergenic	MIR7976,CNTN5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,behavior/neurological phenotype	-,-	ICGC,
chr13	101763490	101763490	G	A	exonic	NALCN	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM696146	LUSC|1|178|0.00562	LUSC-US|1|194|0.00515	-	-	mortality/aging	Cardiovascular malformations|Facial dysmorphism, hypotonia, speech impairment, constipation and intellectual disability|Infantile neuroaxonal dystrophy with facial dysmorphism|Schizophrenia	COSMIC,TCGA,ICGC,
chr16	61120455	61120455	T	C	intergenic	LOC729159,CDH8	unknown	SNV	-	-	-	3.23e-05	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	-,Learning disability  |Autism & learning disability 	ICGC,
chr9	20665516	20665516	C	G	intronic	FOCAD	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21948235	-	BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr4	137146880	137146880	C	T	intergenic	LINC00613,PCDH18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,Intellectual disability  	ICGC,
chr12	29119083	29119083	C	A	intergenic	CCDC91,FAR2	unknown	SNV	-	-	-	-	rs532226201	-	0.000199681	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	ICGC,
chrX	136135363	136135363	G	A	intergenic	GPR101,ZIC3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Situs abnormality|Heterotaxy|Congenital heart disease |Cardiac malformation	ICGC,
chr3	60564185	60564185	-	AACACA	intronic	FHIT	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	integument phenotype	-	ICGC,
chr2	138228500	138228501	TC	-	intronic	THSD7B	unknown	deletion	-	-	-	0.0007	-	-	-	-	-	COSN22819368	-	BRCA-EU|1|569|0.00176	-	-	-	Autism spectrum disorder	COSMIC,ICGC,
chr2	216274835	216274835	T	G	exonic	FN1	nonsynonymous	SNV	0.001	0.998	-	-	-	-	-	-	-	COSM4309671	-	-	-	-	integument phenotype	Autism|Glomerulopathy with fibronectin deposits|Schizophrenia	COSMIC,COSMIC,
chr2	21503581	21503581	G	T	intergenic	APOB,LOC645949	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging,-	Hypocholesterolaemia, association with|Hypocholesterolaemia|Hypobetalipoproteinemia-induced nonalcoholic steatohepatitis|Hypobetalipoproteinaemia.|Hypobetalipoproteinaemia|Hypertriglyceridaemia |Hypocholesterolaemia, steatosis and liver cancer|Increased apoB and cholesterol levels, association with|Increased cholesterol levels|Increased LDL cholesterol levels|Ischaemic stroke, association with |Oligoasthenoteratozoospermia, association with|Oxidised low-density lipoprotein levels, association with|Total cholesterol levels, association with|Hypercholesterolemia, association with|Hypercholesterolaemia, association with|Altered APOB levels |Altered binding affinity|Aortic stenosis, association with|Apolipoprotein B deficiency|Cerebrovascular disease events, association with|Coronary artery disease, association with|Coronary heart disease|Coronary heart disease, association with|Hypercholesterolaemia ?|Hypercholesterolaemia|Hepatitis C virus infection, association with|HDL cholesterol, association with |Diabetes, MODY|Decreased bone mineral density,-	ICGC,
chr18	19769827	19769827	G	C	intronic	GATA6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Heart defects and diabetes, permanent neonatal|Pancreatic agenesis|Pancreatic agenesis & congenital heart defects|Pancreatic hypoplasia & diabetes|Persistent truncus arteriosus|Tetralogy of Fallot|Truncus arteriosus|Ventricular septal defect|Glaucoma, primary congenital|Diabetes with pancreatic agenesis and heart defects|Diabetes with pancreatic agenesis|Diabetes mellitus, permanent neonatal  |Diabetes|Congenital heart disease & renal abnormalities|Congenital heart disease |Congenital diaphragmatic hernia with tetrallogy of Fallot|Congenital diaphragmatic hernia|Atrioventricular septum defects|Atrial fibrillation	ICGC,
chr7	125032774	125032774	T	A	intergenic	LOC101928283,GRM8	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25838835	-	EOPC-DE|1|202|0.00495	-	-	-,behavior/neurological phenotype	-,Attention deficit hyperactivity disorder|Autism spectrum disorder  	COSMIC,ICGC,
chr2	21075715	21075715	T	C	intergenic	C2orf43,APOB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,Hypocholesterolaemia, association with|Hypocholesterolaemia|Hypobetalipoproteinemia-induced nonalcoholic steatohepatitis|Hypobetalipoproteinaemia.|Hypobetalipoproteinaemia|Hypertriglyceridaemia |Hypocholesterolaemia, steatosis and liver cancer|Increased apoB and cholesterol levels, association with|Increased cholesterol levels|Increased LDL cholesterol levels|Ischaemic stroke, association with |Oligoasthenoteratozoospermia, association with|Oxidised low-density lipoprotein levels, association with|Total cholesterol levels, association with|Hypercholesterolemia, association with|Hypercholesterolaemia, association with|Altered APOB levels |Altered binding affinity|Aortic stenosis, association with|Apolipoprotein B deficiency|Cerebrovascular disease events, association with|Coronary artery disease, association with|Coronary heart disease|Coronary heart disease, association with|Hypercholesterolaemia ?|Hypercholesterolaemia|Hepatitis C virus infection, association with|HDL cholesterol, association with |Diabetes, MODY|Decreased bone mineral density	ICGC,
chr4	18176511	18176511	A	G	intergenic	LCORL,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIAD-FR|1|32|0.03125	-	-	-,-	-,-	ICGC,
chr13	104973486	104973486	-	T	intergenic	MIR548AS,DAOA-AS1	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN23194865	-	-	-	-	-,-	-,-	COSMIC,
chr13	62904086	62904086	C	T	intergenic	LINC00358,LINC00448	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr1	56576350	56576350	C	T	intergenic	MIR4422,PPAP2B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,-	ICGC,
chr15	36324503	36324503	A	-	intergenic	MIR4510,C15orf41	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,Congenital dysorythropoietic anaemia type 1	ICGC,
chr8	124708706	124708706	T	C	intronic	ANXA13	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr1	149886135	149886135	C	A	intronic	SV2A	unknown	SNV	-	-	-	0.1140	rs4926386	-	0.155551	-	0.080	-	-	LAML-KR|1|205|0.00488	-	-	mortality/aging	-	ICGC,
chr1	51559671	51559671	G	A	intergenic	CDKN2C,C1orf185	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Multiple endocrine neoplasia 1|Parathyroid adenoma ,-	ICGC,
chr12	122400060	122400060	A	C	exonic	WDR66	nonsynonymous	SNV	0.01	0.638	-	-	-	-	-	-	-	COSM1232643	-	-	-	-	-	Autism	COSMIC,
chr6	116426574	116426574	A	G	intronic	NT5DC1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN14801906	-	PAEN-AU|1|52|0.01923	-	-	-	-	COSMIC,COSMIC,ICGC,
chr7	115223587	115223587	G	A	intergenic	LINC01393,TFEC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,-	ICGC,
chr12	90675746	90675746	G	A	intergenic	LINC00936,LINC00615	unknown	SNV	-	-	-	3.23e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr11	27507979	27507979	C	T	intergenic	LGR4,LIN7C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,mortality/aging	Aniridia, genitourinary anomalies and mental retardation syndrome|Low bone mineral density, association with,-	ICGC,
chr16	59022323	59022323	G	A	intergenic	GOT2,APOOP5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr16	65962859	65962859	C	T	intergenic	LINC00922,CDH5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,integument phenotype	-,Autism|Haemorrhagic fever with renal syndrome, reduced severity, association with|Schizophrenia	ICGC,
chr2	126124644	126124644	G	T	intergenic	CNTNAP5,GYPC	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16967365	-	PRAD-CA|1|308|0.00325	-	-	-,-	Autism,Glycophorin C variant|Gerbich-negative blood group|Elliptocytosis|Duch blood group	COSMIC,ICGC,
chr1	80359112	80359112	G	A	intergenic	ELTD1,LPHN2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	normal phenotype,mortality/aging	-,Schizophrenia	ICGC,
chr6	168342374	168342374	C	T	intronic	MLLT4	unknown	SNV	-	-	-	0.0122	-	-	-	-	-	COSN19360347	-	-	-	-	mortality/aging	Decreased expression	COSMIC,
chr7	6094701	6094701	C	T	intronic	EIF2AK1	unknown	SNV	-	-	-	0.3434	rs655692	-	0.325479	-	0.246	-	-	ESAD-UK|1|301|0.00332	-	-	hematopoietic system phenotype	-	ICGC,
chr6	138385654	138385654	T	C	intergenic	TNFAIP3,PERP	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	integument phenotype,integument phenotype	Systemic sclerosis, with associated autoimmune disease,, association with.|Systemic sclerosis, susceptibility to, association with|Systemic lupus erythematosus, protection against, assoc|Systemic lupus erythematosus, association with |Systemic lupus erythematosus and rheumatoid arthritis, association with|Sjögren's, Crohn's, psoriasis, and rheumatoid arthritis, association|Sjogren's syndrome, with lymphoma, increased risk|Sjogren's syndrome, with lymphoma|Rheumatoid arthritis, association with|Reduced expression |Potential protein deficiency,-	ICGC,
chr4	29489579	29489579	T	A	intergenic	MIR4275,PCDH7	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9036259	-	OV-AU|1|93|0.01075	-	-	-,-	-,-	COSMIC,ICGC,
chr6	142353051	142353051	G	T	intergenic	MIR4465,NMBR	unknown	SNV	-	-	-	0.2580	rs4571583	-	0.316094	-	0.268	-	-	LAML-KR|1|205|0.00488	-	-	-,behavior/neurological phenotype	-,-	ICGC,
chr6	68704441	68704441	G	A	intergenic	NONE,BAI3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	ICGC,
chr10	62408851	62408851	C	T	intronic	ANK3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging	Potential protein deficiency|Intellectual disability, ADHD-like syndrome & behavioural problems|Autism spectrum disorder|Autism|Attention deficit hyperactivity disorder, autism & sleeping problems	ICGC,
chr1	197038504	197038504	G	T	intergenic	F13B,ASPM	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,reproductive system phenotype	Venous thrombosis, increased risk, association with|Myocardial infarction, risk, association with|Factor XIII deficiency|Deep vein thrombosis  |Coronary artery disease, association with ,Primary microcephaly	ICGC,
chr3	38673368	38673368	C	A	intronic	SCN5A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	OV-AU|1|93|0.01075	-	-	mortality/aging	Rapid ventricular tachycardia & intraventricular conduction delay|QTc interval, association with|QRS interval, association with|Phenotype modifier, association with|Nodal rhythm|Negative shift activation|Multifocal ectopic Purkinje-related premature contractions.|LQT3, conduction disorder, dilated cardiomyopathy|Longer QT interval, association with |Long QT syndrome.|Long QT syndrome, malignant perinatal variant|Long QT syndrome, drug-associated|Long QT syndrome and idiopathic ventricular fibrillation|Long QT syndrome and dilated cardiomyopathy|Long QT syndrome and Brugada syndrome|Long QT syndrome 3.|Romano-Ward syndrome|Sick sinus syndrome   |Sick sinus syndrome, autosomal recessive |Ventricular fibrillation, idiopathic|Ventricular fibrillation in coronary artery disease|Ventricular fibrillation during acute myocardial infarction|Ventricular arrhythmia, association with|SUDEP / epilepsy|Sudden unexplained nocturnal death syndrome, association with|Sudden unexplained nocturnal death syndrome|Sudden unexplained death  |Sudden infant death syndrome, association with|Sudden infant death syndrome  |Sudden cardiac death|Sudden adult death syndrome|Slow inactivation and negative shft inactivation|Sick sinus syndrome/Brugada syndrome|Sick sinus syndrome, conduction disease and Brugada syndrome|Ventricular tachycardia  |Arrhythmia, lidocaine-induced|Cardiac conduction disease|Cardiac arrhythmia, increased risk, association|Brugada-like ST elevation.|Brugada-like ST elevation|Brugada syndrome.|Brugada syndrome, lidocaine-induced|Brugada syndrome, asymptomatic|Brugada syndrome and epilepsy|Brugada syndrome|Brugada and short QT syndrome|Atrioventricular conduction block|Atrioventricular block, idiopathic|Atrial standstill|Atrial fibrillation|Arrhythmogenic right ventricular dysplasia  |Cardiac conduction disease and long QT syndrome|Cardiac sinus node dysfunction|Cardiac sinus node dysfunction.|Long QT syndrome 3, with concealed Brugada syndrome..|Long QT syndrome 2|Long QT syndrome & atrial fibrillation|Long QT syndrome|Lone atrial fibrillation, early-onset|Lone atrial fibrillation, association with|Lenegre-Lev disease|Increase in QT dispersion, association with|Idiopathic ventricular arrhythmia.|Cardiac sodium channelopathies|Cardiomyopathy, dilated|Dilated cardiomyopathy|Early repolarization syndrome|Electrocardiographic Traits, association with|Fever-induced arrhythmia|Heart block type 1	ICGC,
chrX	62286295	62286295	T	C	intergenic	NONE,SPIN4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	ICGC,
chr5	121883349	121883349	T	G	intergenic	MGC32805,LOC101927379	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	ICGC,
chr22	41688314	41688314	G	T	intergenic	RANGAP1,ZC3H7B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1899448	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging,-	-,-	COSMIC,ICGC,
chr7	47828109	47828109	G	A	intronic	PKD1L1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging	Subarachnoid haemorrhage, association with	ICGC,
chr10	19517080	19517080	C	T	intronic	MALRD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr13	81913956	81913956	C	T	intergenic	SPRY2,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23866181	-	ORCA-IN|1|178|0.00562	-	-	mortality/aging,-	Cleft lip ,-	COSMIC,ICGC,
chr7	125540704	125540704	-	AC	intergenic	LOC101928283,GRM8	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|2|71|0.02817,LMS-FR|2|67|0.02985	-	-	-,behavior/neurological phenotype	-,Attention deficit hyperactivity disorder|Autism spectrum disorder  	ICGC,
chr18	76426697	76426697	C	A	intergenic	LINC01029,SALL3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1209858	-	LINC-JP|1|394|0.00254	-	-	-,mortality/aging	-,-	COSMIC,ICGC,
chr1	234594551	234594551	A	T	intronic	TARBP1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8448784	-	OV-AU|1|93|0.01075	-	-	-	Psoriasis, reduced risk	COSMIC,COSMIC,ICGC,
chr2	52544758	52544758	-	AAAAAAAAG	intergenic	NRXN1,ASB3	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|2|67|0.02985	-	-	mortality/aging,-	Hypotonia|Hypotonia & encephalopathy|Increased white matter volume, association with|Intellectual disability  |Intellectual disability & attention deficit hyperactivity disorder|Intellectual disability & hearing loss|Intellectual disability & pervasive developmental disorder|Intellectual disability and autism|Intellectual disability, nonsyndromic |Intellectual disability, seizures, dysmorphisms & language delay|Growth retardation  |Epilepsy, myoclonic seizures & speech delay|Developmental disorder|Developmental disorder & attention deficit hyperactivity disorder|Developmental disorder, seizures & attention deficit hyperactivity disorder|Developmental/intellectual disability, hypotonia & dysmorphic features|Disorder of muscle, ligament & fascia|Encephalopathy  |Epilepsy  |Epilepsy with cognitive impairment / autism spectrum disorder|Epilepsy with focal seizures|Epilepsy, generalised |Intellectual disability, seizures, language delay & hypotonia|Language delay|Learning difficulties|Respiratory distress & sepsis|Respiratory distress syndrome|Schizophrenia |Schizophrenia, childhood onset |Schizophrenia, disorganised type|Seizures, generalized tonic-clonic & attention deficit hyperactivity disorder|Sensory integration disorder & attention deficit hyperactivity disorder|Speech delay & social communication difficulties|Tourette syndrome|Pervasive developmental disorder / hypotonia|Pervasive developmental disorder|Pervasive developmental delay / mental retardation, lack of coordination & hearing loss|Learning difficulties, ADHD & autism|Mental retardation|Mental retardation, autism, vertebral malformations|Mental retardation, Pitt-Hopkins-like|Microcephaly & mental retardation|Multiple congenital anomalies  |Multiple disabilities|Myoclonic epilepsy   |Neurodevelopmental disorder  |Vertebral anomalies|Developmental delay, speech delay & social communication difficulties|Attention deficit hyperactivity disorder |Autism spectrum disorder, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability & language delay|Autism spectrum disorder, intellectual disability, dysmorphisms, developmental delay & language delay|Autism spectrum disorder, intellectual disability, seizures & developmental delay|Autism spectrum disorder, intellectual disability, seizures, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability, seizures, dysmorphisms & language delay|Autism spectrum disorder, seizures, developmental delay & language delay|Autism, intellectual disability & attention deficit hyperactivity disorder|Autistic disorder|Autism spectrum disorder with developmental & speech delay|Autism spectrum disorder & seizures|Autism spectrum disorder & language delay|Autism |Autism & learning difficulties|Autism & mental retardation|Autism & seizures|Autism spectrum disorder|Autism spectrum disorder & attention deficit hyperactivity disorder|Autism spectrum disorder & developmental delay|Autism spectrum disorder & dysmorphic features|Autism spectrum disorder & intellectual disability|Behavioural problems|Congenital heart defect  |Craniofacial dysmorphism|Developmental delay & speech/motor delay|Developmental delay with early-onset epilepsy|Developmental delay, dysmorphic features & short stature|Developmental delay, epilepsy, autism|Developmental delay, language delay & hypotonia|Developmental delay, learning difficulties, ADHD|Developmental delay, microcephaly & behavioural problems|Developmental delay, pulmonic stenosis & autism spectrum disorder|Developmental delay, short stature and diaphragmatic hernia|Developmental delay, speech delay & microcephaly|Developmental delay & seizures|Developmental delay & seizure disorder|Cystic hygroma, hydrops & micrognathia|Cystic hygroma, shortened upper limbs & fetal demise|Developmental & speech delay|Developmental delay|Developmental delay / autism|Developmental delay & autism|Developmental delay & dysmorphic features|Developmental delay & epilepsy|Developmental delay & hypotonia|Developmental delay & multiple congenital anomalies,-	ICGC,
chr7	49097366	49097366	C	T	intergenic	CDC14C,VWC2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	62938620	62938620	C	A	intronic	EHBP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr6	88221770	88221770	A	G	UTR3	SLC35A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging	Congenital disorder of glycosylation  |Congenital disorder of glycosylation IIf	ICGC,
chr6	35212426	35212426	G	C	splicing	SCUBE3	splicing	SNV	-	-	-	-	-	-	-	-	-	COSM5026526	-	-	-	-	normal phenotype	-	COSMIC,COSMIC,
chr8	72443675	72443675	T	C	intergenic	EYA1,MSC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,mortality/aging	Oto-facio-cervical syndrome|Peters' anomaly with cataracts|Renal hypodysplasia|Renal malformation|Ureteropelvic junction obstruction and reduced renal function|Iris anomaly|Hearing loss?|Deafness  |Cayler's cardiofacial syndrome|Cataract, autosomal dominant|Branchio-oto-renal syndrome|Branchio-oto-renal / branchiootic syndrome|Branchio-otic syndrome,-	ICGC,
chr10	109104056	109104056	T	C	intergenic	SORCS1,RNU6-53P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	other phenotype,-	Autism ,-	ICGC,
chr10	82881120	82881120	C	T	intergenic	SH2D4B,NRG3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8532166	-	MALY-DE|1|241|0.00415	-	-	-,integument phenotype	-,Schizophrenia, association with |Increased ventrolateral PFC activation|Hirschsprung disease  	COSMIC,ICGC,
chr3	84989319	84989319	TC	AT	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr7	34719990	34719990	G	A	ncRNA_intronic	NPSR1-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr9	72218228	72218228	G	A	intronic	APBA1	unknown	SNV	-	-	-	9.683e-05	rs367953941	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	mortality/aging	-	ICGC,
chr12	71023236	71023236	G	A	intronic	PTPRB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype	Drug addiction, association with	ICGC,
chr9	108953196	108953196	C	T	intergenic	TMEM38B,MIR8081	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,-	Osteogenesis imperfecta, autosomal recessive,-	ICGC,
chr11	32028182	32028182	T	C	intergenic	DKFZp686K1684,LOC100506675	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr4	80396610	80396610	A	T	intergenic	GK2,LINC00989	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	13383767	13383767	T	C	intergenic	LOC100506474,LINC00276	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	ICGC,
chr14	45034289	45034289	G	T	intergenic	FSCB,C14orf28	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22919275	-	PAEN-IT|1|37|0.02703	-	-	-,-	Tourette syndrome ,Schizophrenia	COSMIC,ICGC,
chr14	40347365	40347365	C	T	intergenic	FBXO33,LOC644919	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	104023077	104023077	T	C	intergenic	TMEM182,LOC100287010	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr16	76738553	76738557	GATAT	-	intergenic	LOC101928203,MIR4719	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr5	172755169	172755169	T	C	exonic	STC2	nonsynonymous	SNV	1.0	0.0	-	-	-	-	-	-	-	COSM6170623	LUAD|1|543|0.00184	LUAD-US|1|38|0.02632	-	-	reproductive system phenotype	-	COSMIC,TCGA,ICGC,
chr7	121829755	121829755	G	T	intergenic	AASS,FEZF1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6593777	-	PBCA-DE|1|499|0.00200	-	-	-,mortality/aging	Hyperlysinaemia,-	COSMIC,ICGC,
chr18	27465651	27465651	T	C	intergenic	CDH2,MIR302F	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	Reduced expression|Potential protein deficiency|Alzheimer disease  ,-	ICGC,
chr18	6689338	6689338	A	G	intergenic	C18orf64,ARHGAP28	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr9	26121992	26121992	C	T	intergenic	LOC100506422,CAAP1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15805990	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr3	97077725	97077725	C	A	intronic	EPHA6	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7719282	-	PACA-AU|1|391|0.00256	-	-	behavior/neurological phenotype	Alzheimer disease  	COSMIC,ICGC,
chr11	349478	349478	G	A	intergenic	IFITM3,B4GALNT4	unknown	SNV	-	-	-	3.349e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Tuberculosis, susceptibility to, association with|Potential protein deficiency|Influenza, severe, increased risk,-	ICGC,
chr13	103741489	103741489	G	A	intergenic	SLC10A2,MIR548AS	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	digestive/alimentary phenotype,-	Bile acid malabsorption, primary|Colorectal adenoma, increased risk, association with|Hypertriglyceridaemia |Impaired taurocholate transport|Potential protein deficiency,-	ICGC,
chr12	97239371	97239371	A	C	intergenic	CDK17,NEDD1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16703785	-	PAEN-IT|1|37|0.02703,ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,COSMIC,ICGC,
chr5	44744142	44744142	G	C	downstream	LOC100506674	unknown	SNV	-	-	-	-	rs376287546	-	-	-	-	COSN18853550	-	-	-	-	-	-	COSMIC,
chr6	27249896	27249896	T	C	intergenic	PRSS16,POM121L2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype,-	-,-	ICGC,
chr20	51339530	51339530	-	GGTG	intergenic	LOC101927700,TSHZ2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,mortality/aging	-,Schizophrenia	ICGC,
chr20	54620105	54620105	G	A	intergenic	CBLN4,MC3R	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	normal phenotype,skeleton phenotype	-,Tuberculosis, reduced susceptibility, association with|Reduced receptor activity|Reduced expression|Reduced cell surface expression and defective ligand binding/signalling|Reduced cell surface expression|Reduced cell surface and total expression, decreased maximal binding|Reduced cell surface and total expression|Obesity, severe|Obesity, association with|Obesity 	ICGC,
chr2	146490514	146490514	-	GATG	intergenic	TEX41,PABPC1P2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr1	76327681	76327681	C	T	intronic	MSH4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	reproductive system phenotype	Lung cancer, susceptibility to, association with|Genome-wide recombination rate, association with	ICGC,
chr4	65706624	65706624	A	C	intergenic	TECRL,LOC401134	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24655372	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	COSMIC,ICGC,
chr1	169559545	169559545	G	A	intronic	SELP	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Spontaneous abortion, recurrent, association with|Primary VF during acute MI, association|Potential protein deficiency|P-Selectin levels, association with|Myocardial infarction, lower risk, association|Low levels of P-selectin, association with|Incident coronary heart disease, increased risk in whites|Higher platelet SELP measures|Cell surface measures of SELP|Atopy, increased risk, association with	ICGC,
chr3	2655364	2655364	G	A	intronic	CNTN4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	nervous system phenotype	Spinocerebellar ataxia 16 |Features of 3p deletion syndrome|Autism spectrum disorder |Autism	ICGC,
chr4	116216669	116216669	G	A	intergenic	NDST4,MIR1973	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	ICGC,
chr3	197517367	197517367	T	C	upstream	LRCH3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1940503	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr16	87214874	87214874	C	T	intergenic	FOXL1,LOC101928708	unknown	SNV	-	-	-	3.238e-05	-	-	-	-	-	-	-	RECA-EU|1|422|0.00237	-	-	mortality/aging,-	Hypoplastic left heart syndrome,-	ICGC,
chr10	26690686	26690686	T	A	intergenic	GAD2,APBB1IP	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Obesity, association with |Alcoholism,-	ICGC,
chr4	100151907	100151907	T	A	ncRNA_intronic	LOC100507053	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	-	-	ICGC,
chr1	208200000	208200000	T	C	UTR3	PLXNA2	unknown	SNV	-	-	-	0.0098	-	-	-	-	-	-	-	PBCA-US|6|186|0.03226	-	-	vision/eye phenotype	Tetralogy of Fallot	ICGC,
chr3	35633169	35633169	A	G	intergenic	LOC101928135,ARPP21	unknown	SNV	-	-	-	0.0005	rs547681985	-	0.000199681	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,nervous system phenotype	-,-	ICGC,
chr12	68724927	68724927	C	T	exonic	MDM1	synonymous	SNV	-	-	-	-	-	-	-	-	-	-	-	PAEN-AU|1|52|0.01923	-	-	vision/eye phenotype	Schizophrenia	ICGC,
chr4	127890647	127890647	G	A	intergenic	MIR2054,INTU	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5552091	-	LIRI-JP|1|258|0.00388	-	-	-,mortality/aging	-,Anorectal malformation	COSMIC,ICGC,
chr9	20578653	20578653	G	C	intronic	MLLT3	unknown	SNV	-	-	-	0.0061	rs535861593	-	0.00279553	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging	Neuromotor dev. delay, cerebellar ataxia, epilepsy	ICGC,
chr1	188306988	188306988	C	T	intergenic	PLA2G4A,BRINP3	unknown	SNV	-	-	-	0.0003	rs191210255	-	0.000599042	-	0.007	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Asthma, association with|Cryptogenic multifocal ulcerating stenosing enteritis|Increased enzyme activity|Prostanoid biosynthesis deficiency,-	ICGC,
chr14	87851328	87851328	C	T	intergenic	LOC283585,GALC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Krabbe disease, association with|Krabbe disease|Glaucoma, primary open-angle|Glaucoma, primary open angle	ICGC,
chr5	119249176	119249176	G	A	intergenic	FAM170A,PRR16	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN52573	-	-	-	-	-,-	-,-	COSMIC,
chr15	54554499	54554499	G	A	intronic	UNC13C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	Developmental delay  	ICGC,
chr13	107097304	107097304	T	G	intergenic	LINC00460,EFNB2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,integument phenotype	-,-	ICGC,
chr19	53384766	53384766	C	T	exonic	ZNF320	nonsynonymous	SNV	1.0	0.055	-	-	-	-	-	-	-	COSM3835612	BRCA|1|982|0.00102	BRCA-US|1|955|0.00105	-	-	-	-	COSMIC,TCGA,ICGC,
chr7	120635979	120635979	C	T	intronic	CPED1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr3	125898356	125898356	-	AAAACAAA	intronic	ALDH1L1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	-	ICGC,
chr8	144085091	144085091	T	A	ncRNA_intronic	LOC100133669	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr21	25689783	25689783	A	G	ncRNA_intronic	LOC101927869	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr3	21789405	21789405	G	T	intronic	ZNF385D	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr19	8242321	8242321	C	A	intergenic	FBN3,CERS4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	Polycystic ovary syndrome, association with ,-	ICGC,
chr2	82722504	82722504	C	A	intergenic	LOC100507201,LOC1720	unknown	SNV	-	-	-	-	rs540007917	-	0.00119808	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr12	59598914	59598914	C	T	intergenic	LRIG3,SLC16A7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,-	-,Autism spectrum disorder	ICGC,
chr1	70902515	70902515	C	T	intronic	CTH	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	mortality/aging	Hyperhomocysteinemia|Cystathioninuria|Cystathionine elevations |Altered homocysteine levels	ICGC,
chr12	93633480	93633480	A	T	ncRNA_intronic	LOC643339	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr12	30936362	30936362	T	G	intergenic	CAPRIN2,LINC00941	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr11	37236697	37236697	C	T	intergenic	C11orf74,LOC103312105	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr12	23146018	23146018	A	T	intergenic	ETNK1,LOC101928441	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25023323	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	COSMIC,ICGC,
chr4	59555005	59555005	A	G	intergenic	IGFBP7-AS1,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	-,-	ICGC,
chr14	73437941	73437941	C	T	intronic	ZFYVE1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19771366	-	COCA-CN|1|321|0.00312	-	-	-	-	COSMIC,ICGC,
chr19	52437542	52437542	C	G	intronic	ZNF613	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	-	-	ICGC,
chr1	106574687	106574687	T	G	intergenic	LOC100129138,PRMT6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr2	233364845	233364845	G	A	intergenic	ECEL1,PRSS56	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,vision/eye phenotype	Arthrogryposis multiplex congenita with axoglial defects|Arthrogryposis, distal  |Arthrogryposis, distal, type 5D,Posterior microphthalmos|Nanophthalmos  |Microphthalmia  |High hyperopia|Glaucoma, primary angle-closure / high hyperopia|Glaucoma, primary angle-closure	ICGC,
chr21	16972670	16972670	T	C	intergenic	NRIP1,USP25	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1882424	-	LIRI-JP|1|258|0.00388	-	-	reproductive system phenotype,hematopoietic system phenotype	Lung cancer, susceptibility to, association with,-	COSMIC,ICGC,
chr13	79580391	79580391	-	GT	intergenic	LINC00331,RBM26	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr5	1922509	1922509	A	G	intergenic	CTD-2194D22.4,MIR548BA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PEME-CA|1|112|0.00893	-	-	-,-	-,-	ICGC,
chr14	82412819	82412819	C	T	intergenic	LOC101928559,NONE	unknown	SNV	-	-	-	3.232e-05	-	-	-	-	-	COSN25792284	-	EOPC-DE|1|202|0.00495	-	-	-,-	-,-	COSMIC,ICGC,
chr7	41417956	41417965	TCCTGTTCAT	-	intergenic	LINC01449,INHBA	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	RECA-EU|1|422|0.00237	-	-	-,integument phenotype	-,Ovarian epithelial tumours, early onset	ICGC,
chr7	15946704	15946704	G	A	intergenic	MEOX2-AS1,ISPD	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Walker-Warburg syndrome / muscle-eye-brain disease|Walker-Warburg syndrome|Muscular dystrophy, limb girdle with mental retardation|Muscular dystrophy, limb girdle with cerebellar involvement|Muscular dystrophy, limb girdle|Muscular dystrophy, congenital|Muscle-eye-brain disease|Cobblestone lissencephaly	ICGC,
chr14	106328004	106328004	G	T	intergenic	ELK2AP,KIAA0125	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN18979154	-	CLLE-ES|1|510|0.00196,LUSC-KR|1|170|0.00588	-	-	-,-	-,-	COSMIC,ICGC,
chr6	89600293	89600293	G	A	exonic	RNGTT	nonsynonymous	SNV	0.0	1.0	-	-	-	-	-	-	-	-	GBMLGG|1|820|0.00122,LGG|1|530|0.00189	-	-	-	-	-	TCGA,
chr10	89668751	89668751	A	C	intronic	PTEN	unknown	SNV	-	-	-	0.0414	rs72814166	-	0.0299521	-	0.087	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype	Macrocephaly |Lhermitte-Duclos disease|Juvenile polyposis coli|Increased expression|Hypoglycaemia, macrocephaly, developmental delay, short stature and coagulopathy |Hyperplastic polyps and tubular adenomas|Hamartoma tumour syndrome|Gorham-Stout phenomenon|Gastrointestinal polyposis|Gastric cancer, association with|Macrocephaly, hypotonia & learning disabilities|Macrocephaly, ventriculomegaly, VATER association|PTEN hamartoma-tumour syndrome with systemic lupus erythematosus|PTEN hamartoma-tumour syndrome|PTEN hamartoma tumour syndrome|Proteus-like syndrome|Proteus syndrome|Neurodevelopmental disorders and macrocephaly without autism|Neurodevelopmental disorders and macrocephaly with autism|Multiple cancers|Mental retardation  |Squamous cell carcinoma|Diabetes, type 2, association with|Developmental delay and macrocephaly|Breast cancer|Bannayan-Zonana syndrome|Bannayan-Riley-Ruvalcaba syndrome, with cortical dysplasia|Bannayan-Riley-Ruvalcaba syndrome|Autism-epilepsy with macrocephaly|Autism spectrum disorders, developmental delay and macrocephaly|Autism spectrum disorder and macrocephaly|Autism spectrum disorder |Autism|Breast cancer, lower age of diagnosis, association with|Breast cancer.|Complex atypical hyperplasia|Developmental delay  |Cowden/Bannayan syndrome.|Cowden syndrome|Cowden disease with neuroblastoma|Cowden disease and vascular anomalies|Cowden disease / Sjogren's syndrome|Cowden disease|Cowden / Cowden-like syndrome with thyroid cancer|Cowden / Bannayan-Riley-Ruvalcaba syndromes	ICGC,
chr14	62690337	62690337	T	A	intergenic	LINC00644,KCNH5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,behavior/neurological phenotype	-,Epileptic encephalopathy 	ICGC,
chr1	64662353	64662353	C	T	intergenic	ROR1,UBE2U	unknown	SNV	-	-	-	0.0584	rs139237139	-	0.0213658	-	0.051	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	-,-	ICGC,
chr7	13132635	13132635	A	C	intergenic	ARL4A,ETV1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17128787	-	-	-	-	reproductive system phenotype,mortality/aging	-,-	COSMIC,
chr17	45621202	45621202	C	A	intronic	NPEPPS	unknown	SNV	-	-	-	0.1225	rs112979239	-	-	-	0.007	COSN27610928	-	LAML-KR|1|205|0.00488,PRAD-CA|1|308|0.00325,SKCA-BR|2|100|0.02000	-	-	integument phenotype	-	COSMIC,ICGC,
chr9	103935932	103935932	A	G	intronic	LPPR1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr3	26242572	26242572	C	T	intergenic	LINC00692,LRRC3B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,nervous system phenotype	-,-	ICGC,
chr12	124026251	124026251	A	C	intergenic	MIR3908,LOC101927415	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19124045	-	CLLE-ES|1|510|0.00196	-	-	-,-	-,-	COSMIC,ICGC,
chr4	171372973	171372980	TTATATAT	-	intergenic	AADAT,LOC100506122	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	vision/eye phenotype,-	-,-	ICGC,
chr2	127059958	127059958	C	T	intergenic	CNTNAP5,GYPC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Autism,Glycophorin C variant|Gerbich-negative blood group|Elliptocytosis|Duch blood group	ICGC,
chr15	26804265	26804265	C	T	intronic	GABRB3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Neurological deficits of Angelman syndrome|Mesial temporal lobe epilepsy with depression, association with|Increased promoter activity|Epilepsy, childhood absence, association with|Chronic insomnia |Autism, association with |Autism spectrum disorder|Anorectal malformation	ICGC,
chr15	82014088	82014088	A	C	intergenic	LOC101929655,MEX3B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	117183812	117183812	A	C	ncRNA_intronic	LOC102467224	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332,MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr14	94278437	94278437	G	A	intergenic	PRIMA1,FAM181A-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	respiratory system phenotype,-	-,-	ICGC,
chr11	88337889	88337889	C	A	exonic	GRM5	nonsynonymous	SNV	0.001	1.0	-	-	-	-	-	-	-	COSM4004546	-	OV-AU|1|93|0.01075	-	-	integument phenotype	Attention deficit hyperactivity disorder|Schizophrenia   	COSMIC,COSMIC,ICGC,
chr10	119563268	119563268	C	A	intergenic	EMX2,RAB11FIP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	Schizencephaly,-	ICGC,
chr14	100187625	100187625	T	A	exonic	CYP46A1	nonsynonymous	SNV	0.06	0.001	-	-	-	-	-	-	-	COSM1678248	-	-	-	-	homeostasis/metabolism phenotype	Alzheimer disease, association with|Primary open-angle glaucoma, association with	COSMIC,
chr11	37709460	37709460	A	G	intergenic	C11orf74,LOC103312105	unknown	SNV	-	-	-	0.0014	rs866568056	-	-	-	0.043	COSN15605067	-	RECA-EU|1|422|0.00237	-	-	-,-	-,-	COSMIC,ICGC,
chr7	137173406	137173406	-	T	intronic	DGKI	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	ORCA-IN|1|178|0.00562	-	-	tumorigenesis	-	ICGC,
chr9	22573002	22573002	T	C	intergenic	DMRTA1,LINC01239	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	taste/olfaction phenotype,-	-,-	ICGC,
chr7	57505423	57505423	A	G	intergenic	MIR3147,ZNF716	unknown	SNV	-	-	-	0.0263	rs797025916	-	-	-	-	-	-	PBCA-DE|1|499|0.00200,MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr8	78848665	78848665	G	A	intergenic	PEX2,PKIA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,normal phenotype	Zellweger syndrome|Refsum disease, infantile|Peroxisome biogenesis disorder|Cerebellar ataxia, autosomal recessive,-	ICGC,
chr2	170361068	170361068	G	T	exonic	BBS5	nonsynonymous	SNV	0.016	0.164	-	-	-	-	-	-	-	COSM4624460	-	-	-	-	-	Retinitis pigmentosa|Phenotype modifier|Choroideremia|Bardet-Biedl syndrome	COSMIC,
chr3	72330697	72330697	T	A	intergenic	LINC00870,RYBP	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,-	ICGC,
chr17	35207877	35207877	G	A	intergenic	MRM1,LHX1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,Mayer-Rokitansky-Küster-Hauser syndrome |Mullerian aplasia	ICGC,
chr18	68523391	68523391	T	C	intergenic	GTSCR1,LOC100505776	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	UTCA-FR|1|20|0.05000	-	-	-,-	-,-	ICGC,
chr2	144040995	144040995	G	A	intronic	ARHGAP15	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21125735	-	BRCA-EU|1|569|0.00176	-	-	hematopoietic system phenotype	-	COSMIC,ICGC,
chr16	51022223	51022223	G	T	intergenic	CYLD,LOC101927334	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	integument phenotype,-	Brooke-Spiegler syndrome|Brooke-Spiegler syndrome.|Brooke-Spiegler syndrome/Trichoepithelioma, multiple familial.|Cylindromatosis|Cylindromatosis, familial|Trichoepithelioma, multiple familial,-	ICGC,
chr7	130277289	130277289	-	AAA	intronic	COPG2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	-	ICGC,
chr15	63683072	63683072	A	G	ncRNA_intronic	LOC102723344	unknown	SNV	-	-	-	0.0339	rs34680639	-	0.0363419	-	0.036	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr10	11891534	11891534	G	A	intronic	PROSER2	unknown	SNV	-	-	-	0.0077	rs79900383	-	0.00678914	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr1	204219296	204219296	GG	AA	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr9	111004189	111004189	T	C	intergenic	KLF4,ACTL7B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	integument phenotype,-	-,Schizophrenia	ICGC,
chr7	133134487	133134487	-	TTGTGTGT	intronic	EXOC4	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	mortality/aging	Meckel-Gruber syndrome|Cervical artery dissection|Autism spectrum disorder  	ICGC,
chr3	34311943	34311943	G	A	intergenic	PDCD6IP,LOC101928135	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	Hepatocellular carcinoma, increased risk, association with,-	ICGC,
chr14	55645319	55645319	T	G	intronic	DLGAP5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7021826	-	PACA-AU|1|391|0.00256	-	-	reproductive system phenotype	-	COSMIC,ICGC,
chr15	52504937	52504937	G	A	intronic	MYO5C	unknown	SNV	-	-	-	0.0002	rs746563303	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	-	ICGC,
chr3	146962111	146962111	C	A	intergenic	PLSCR5,ZIC4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,-	ICGC,
chr5	160959145	160959145	G	A	intronic	GABRB2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	skeleton phenotype	-	ICGC,
chr7	91746970	91746970	-	AATTGTT	intronic	CYP51A1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Paediatric cataract |Preterm birth 	ICGC,
chr2	195718644	195718644	G	T	intergenic	LOC101927431,SLC39A10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr19	7104852	7104852	A	C	intergenic	ZNF557,INSR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,Insulin resistance A|Leprechaunism|Obesity & learning disability|Polycystic ovary syndrome, in lean women, association with|Potential protein deficiency|Rabson-Mendenhall syndrome|Rabson-Mendenhall syndrome.|Reduced diastolic blood pressure, association with|Insulin resistance|Fibre-type disproportion myopathy, congenital|Acanthosis nigricans|Acanthosis nigricans, insulin related|Colorectal cancer, increased risk, association with |Diabetes mellitus, type 2, association with|Diabetes, NIDDM|Diabetes, type 2, association with|Diabetes, type 2, protection against|Donohue syndrome.	ICGC,
chr13	41779451	41779452	TT	-	ncRNA_intronic	LOC101929140	unknown	deletion	-	-	-	-	rs34442574	-	-	-	-	COSN19335711	-	-	-	-	-	-	COSMIC,
chr1	150444231	150444231	C	A	exonic	RPRD2	stopgain	SNV	-	-	-	-	-	-	-	-	-	COSM6309407	-	LICA-CN|1|402|0.00249	-	-	-	-	COSMIC,COSMIC,ICGC,
chr13	68721413	68721413	G	C	intergenic	PCDH9,LINC00550	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	ICGC,
chr10	21023461	21023461	G	A	intergenic	MIR4675,NEBL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Cardiomyopathy, dilated|Cardiomyopathy, dilated & endocardial fibroelastosis	ICGC,
chr12	124953359	124953359	C	-	intronic	NCOR2	unknown	deletion	-	-	-	-	-	-	-	-	-	COSN15648983	-	-	-	-	mortality/aging	Schizophrenia  	COSMIC,
chr3	104193310	104193310	G	T	intergenic	MIR548A3,ALCAM	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16777319	-	PACA-CA|1|268|0.00373	-	-	-,vision/eye phenotype	-,Breast cancer, increased risk, association with  |Schizophrenia	COSMIC,ICGC,
chr13	25042297	25042297	C	T	intronic	PARP4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	normal phenotype	-	ICGC,
chr13	104888685	104888685	G	A	intergenic	MIR548AS,DAOA-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	179484968	179484968	C	G	exonic	TTN	unknown	SNV	0.0	1.0	-	-	-	-	-	-	-	COSM6491274	-	-	-	-	mortality/aging	Muscular dystrophy, limb girdle 2J|Myopathy|Myopathy with cellular aggregates|Potential protein deficiency|Tibial muscular dystrophy|Titinopathy|Muscular dystrophy  |Limb girdle muscular dystrophy 2J|Arrhythmogenic right ventricular cardiomyopathy|Arthrogryposis multiplex congenita with axoglial defects|Cardiac dysrhythmia|Cardiomyopathy, dilated|Cardiomyopathy, hypertrophic|Centronuclear myopathy	COSMIC,COSMIC,COSMIC,COSMIC,COSMIC,
chr8	65165866	65165866	G	A	intergenic	LINC01289,MIR124-2HG	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr19	58132285	58132285	G	A	exonic	ZNF134	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM1002386	UCEC|1|248|0.00403	UCEC-US|1|250|0.00400	-	-	-	-	COSMIC,TCGA,ICGC,
chr8	65283715	65283715	C	T	intergenic	LINC01289,MIR124-2HG	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	EOPC-DE|1|202|0.00495	-	-	-,-	-,-	ICGC,
chr17	16398164	16398164	T	A	intergenic	LRRC75A,ZNF287	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25378610	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	COSMIC,ICGC,
chr7	89015880	89015880	T	A	intergenic	ZNF804B,STEAP2-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20627752	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr2	156741053	156741053	C	T	intergenic	KCNJ3,AC093375.1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	cardiovascular system phenotype,-	Schizophrenia, association with  ,-	ICGC,
chr2	179633647	179633647	A	C	exonic	TTN	unknown	SNV	-	-	-	-	-	-	-	-	-	COSM149017	-	-	-	-	mortality/aging	Muscular dystrophy, limb girdle 2J|Myopathy|Myopathy with cellular aggregates|Potential protein deficiency|Tibial muscular dystrophy|Titinopathy|Muscular dystrophy  |Limb girdle muscular dystrophy 2J|Arrhythmogenic right ventricular cardiomyopathy|Arthrogryposis multiplex congenita with axoglial defects|Cardiac dysrhythmia|Cardiomyopathy, dilated|Cardiomyopathy, hypertrophic|Centronuclear myopathy	COSMIC,COSMIC,COSMIC,COSMIC,COSMIC,COSMIC,
chr8	78201507	78201507	T	G	intergenic	PEX2,PKIA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	mortality/aging,normal phenotype	Zellweger syndrome|Refsum disease, infantile|Peroxisome biogenesis disorder|Cerebellar ataxia, autosomal recessive,-	ICGC,
chr14	35810216	35810216	T	G	intergenic	PSMA6,NFKBIA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BOCA-UK|1|130|0.00769	-	-	-,integument phenotype	Essential hypertension, association with|Multiple myeloma, outcome, association with|Myocardial infarction, association with,Systemic lupus erythematosus, association with.|Sarcoidosis, association with.|RSV bronchiolitis, severe, increased risk|Rheumatoid arthritis, reduced risk, association with|Rheumatoid arthritis, increased risk, association with |Lung cancer, association with|Invasive pneumococcal disease, protection against|Hodgkin lymphoma|GH and IGF-I insensitivity causing growth failure|Airway hyperresponsiveness after viral infection, association with|Asthma, atopic, protection, association with|Colorectal cancer, increased risk, association with|Ectodermal dysplasia, anhidrotic with immune deficiency|Ectodermal dysplasia, with immunodeficiency|Gastric cancer, increased risk, association with	ICGC,
chr15	97188547	97188547	C	G	intergenic	NR2F2,SPATA8-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Whole body insulin sensitivity, association with|Hypoplastic left heart syndrome|Cardiac abnormalities|Atrioventricular septum defects,-	ICGC,
chr3	93591762	93591762	A	C	downstream	PROS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|2|301|0.00664	-	-	integument phenotype	Thrombophilia  |Reduced plasma Protein S|Recurrent miscarriage |Protein S deficiency, type III|Protein S deficiency, type I/III|Protein S deficiency, type I|Protein S deficiency, association with|Protein S deficiency with thrombophilia|Deep vein thrombosis |Deep vein thrombosis, association with|Deep vein thrombosis, in pregnancy|Increased plasma Protein S|Protein S deficiency	ICGC,
chr3	15282060	15282060	C	A	exonic	CAPN7	nonsynonymous	SNV	0.028	0.188	-	-	-	-	-	-	-	-	LUAD|1|543|0.00184	-	-	-	integument phenotype	-	TCGA,
chr8	89819603	89819603	C	T	intergenic	MMP16,RIPK2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,hematopoietic system phenotype	-,Autism spectrum disorder	ICGC,
chr1	118727691	118727691	C	T	intronic	SPAG17	unknown	SNV	-	-	-	-	-	-	-	-	-	COSM308158	-	-	-	-	-	Autism	COSMIC,
chr6	12913516	12913516	C	T	intronic	PHACTR1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	Intellectual disability  	ICGC,
chr20	62803836	62803836	C	G	intronic	MYT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging	Mental retardation	ICGC,
chr20	51201367	51201367	A	G	intergenic	ZFP64,LOC101927700	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr3	145545557	145545557	C	T	intergenic	C3orf58,PLOD2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,Bruck syndrome	ICGC,
chr5	42619617	42619617	A	G	intronic	GHR	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6297819	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging	Small birth size and early pubertal onset, in boys, association|Short stature|Reduction in pro-aging signalling, cancer & diabetes, association|Reduced birth and placental weight, association with.|Obesity, association with|Mandibular height, association with|Lung cancer, susceptibility to, association with|Lower recombinant GH dosage in GH deficiency, association with|Laron dwarfism|Altered HDL cholesterol level in hypercholesterolaemia|Colonic polyps and osteoarthritis, in acromegaly, association with|Elevated serum levels of growth hormone-binding protein|Growth hormone insensitivity|IGF-I levels, association with|Increased insulin secretion, association with|Inhibitory effect on mandibular growth in young children, association with	COSMIC,ICGC,
chr2	70950975	70950975	A	-	intronic	ADD2	unknown	deletion	-	-	-	-	-	-	-	-	-	COSN27531945	-	BTCA-SG|1|71|0.01408	-	-	hematopoietic system phenotype	-	COSMIC,ICGC,
chr17	27486397	27486397	C	T	intronic	MYO18A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	Schizophrenia	ICGC,
chr9	34263750	34263750	-	T	intronic	KIF24	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	-	ICGC,
chr2	215027369	215027369	G	A	intronic	SPAG16	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	reproductive system phenotype	Instability of central apparatus proteins	ICGC,
chr2	154876782	154876782	C	T	intronic	GALNT13	unknown	SNV	-	-	-	6.558e-05	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	normal phenotype	-	ICGC,
chr3	192096002	192096002	A	G	intronic	FGF12	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	behavior/neurological phenotype	-	ICGC,
chr8	88757847	88757847	G	A	intergenic	CNBD1,DCAF4L2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	72919562	72919562	T	G	intergenic	SHQ1,GXYLT2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,Schizophrenia	ICGC,
chr16	5725869	5725869	C	T	intergenic	MIR8065,RBFOX1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Muscular and feet abnormalities|Mental retardation|Epilepsy, rolandic  |Epilepsy|Developmental delay, facial dysmorphism  |Developmental delay and transposition of the great arteries|Developmental delay and diplegia|Developmental delay and craniosynostosis|Developmental delay  |Cardiac defects|Cardiac abnormalities, micrognathia and scoliosis|Autism spectrum disorder|Autism|Attention deficit hyperactivity disorder 	ICGC,
chr12	110272441	110272441	C	A	intergenic	MIR4497,GLTP	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17028750	-	PRAD-CA|1|308|0.00325	-	-	-,-	-,-	COSMIC,ICGC,
chr5	37438081	37438081	A	G	exonic	WDR70	nonsynonymous	SNV	1.0	0.046	8.299e-06	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr6	87023855	87023855	CC	TT	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr8	140519392	140519392	C	T	intergenic	COL22A1,KCNK9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,respiratory system phenotype	-,Birk Barel mental retardation dysmorphism syndrome	ICGC,
chr5	140736559	140736559	T	C	exonic	PCDHGA4	nonsynonymous	SNV	-	1.0	-	3.231e-05	-	-	-	-	-	-	-	GACA-JP|1|585|0.00171	-	-	-	-	ICGC,
chr2	180598951	180598951	T	C	intronic	ZNF385B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	Mental retardation  	ICGC,
chr16	51583231	51583233	ATT	-	intergenic	SALL1,LOC101927364	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	mortality/aging,-	Townes-Brocks syndrome|Renal hypodysplasia|Multiple congenital anomalies, CNS defects, cortical blindness, and absence of psychomotor development|Lenz microphthalmia syndrome|Goldenhar syndrome ,-	ICGC,
chr1	186409215	186409215	C	T	ncRNA_intronic	MIR548F1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr21	23961065	23961065	G	-	intergenic	LINC00308,D21S2088E	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr2	75624662	75624662	T	C	intergenic	TACR1,EVA1A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	integument phenotype,-	-,-	ICGC,
chr5	61385730	61385730	-	A	intergenic	LOC100506526,KIF2A	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	RECA-EU|1|422|0.00237	-	-	-,mortality/aging	-,Malformation of cortical development	ICGC,
chr5	108996053	108996053	A	G	intergenic	PJA2,MAN2A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,integument phenotype	-,-	ICGC,
chr17	10292188	10292188	T	C	intergenic	MYH13,MYH8	unknown	SNV	-	-	-	0.5776	rs7208159	-	0.477236	-	0.442	COSN6648870	-	-	-	-	-,-	Alzheimer disease, late-onset, association with,Cardiac myxoma and distal arthrogryposis	COSMIC,
chr6	123787523	123787523	T	G	ncRNA_intronic	LOC101927990	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17366224	-	ESAD-UK|1|301|0.00332	-	-	-	-	COSMIC,ICGC,
chrY	13561440	13561440	G	C	intergenic	NONE,GYG2P1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	-,-	-,-	ICGC,
chr4	147993305	147993305	A	G	intergenic	TTC29,EDNRA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,mortality/aging	-,Reduced pulmonary function, in cystic fibrosis, association with|Myocardial infarction|Migraine, association with|Intracranial aneurysm, increased risk, association with|Hypertension, protection against, association with |Hernia, diaphragmatic |Congenital absence of the vas deferens, association with|Breast cancer, susceptibility to, association with|Adrenal hyperplasia, macronodular, ACTH-independent	ICGC,
chr3	101652597	101652597	G	T	intergenic	NFKBIZ,LOC152225	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	integument phenotype,-	-,-	ICGC,
chr13	96553080	96553080	C	T	exonic	UGGT2	nonsynonymous	SNV	0.012	0.715	4.099e-06	-	rs746869994	8.29e-06	-	-	-	COSM6231893	-	LICA-CN|1|402|0.00249	-	-	-	-	COSMIC,ICGC,
chr2	177417457	177417457	A	C	intergenic	MTX2,MIR1246	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	ICGC,
chr5	91915530	91915530	G	A	intergenic	ARRDC3-AS1,NR2F1-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-UK|1|140|0.00714	-	-	-,-	-,-	ICGC,
chr4	74560483	74560483	-	T	intergenic	RASSF6,CXCL8	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|4|67|0.05970	-	-	-,-	-,-	ICGC,
chr19	42202002	42202002	T	A	intergenic	CEACAM7,CEACAM5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	ICGC,
chr13	53245461	53245461	-	AAT	intronic	SUGT1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|4|67|0.05970	-	-	-	-	ICGC,
chr3	94989119	94989119	G	A	intergenic	LINC00879,MTHFD2P1	unknown	SNV	-	-	-	-	rs775229349	-	-	-	-	-	-	LMS-FR|1|67|0.01493,SKCA-BR|2|100|0.02000	-	-	-,-	-,-	ICGC,
chr1	96654290	96654290	G	T	intergenic	LOC100996635,LOC101928241	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23747612	-	ORCA-IN|1|178|0.00562	-	-	-,-	-,-	COSMIC,ICGC,
chr2	105371785	105371785	C	-	ncRNA_intronic	LINC01114	unknown	deletion	-	-	-	0.1291	rs35703994	-	0.109824	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr14	65550777	65550777	G	A	UTR3	MAX	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging	Phaeochromocytoma and paraganglioma|Phaeochromocytoma	ICGC,
chr4	160323594	160323594	C	T	intergenic	RAPGEF2,FSTL5	unknown	SNV	-	-	-	6.459e-05	-	-	-	-	-	COSN9887484	-	ESAD-UK|1|301|0.00332,RECA-EU|1|422|0.00237,PACA-AU|1|391|0.00256	-	-	integument phenotype,-	-,Schizophrenia  |Rolandic epilepsy 	COSMIC,COSMIC,ICGC,
chr17	26715423	26715423	G	C	exonic	SARM1	nonsynonymous	SNV	-	0.999	-	-	-	-	-	-	-	-	UCS|1|57|0.01754	-	-	-	immune system phenotype	-	TCGA,
chr13	62302513	62302513	T	-	intergenic	PCDH20,LINC00358	unknown	deletion	-	-	-	6.536e-05	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	ICGC,
chr15	87210095	87210095	T	C	intronic	AGBL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-	Fuchs corneal dystrophy, late-onset 	ICGC,
chr13	88404647	88404647	T	C	intergenic	SLITRK5,LINC00397	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,-	-,-	ICGC,
chr11	28546198	28546198	G	A	intergenic	MIR8068,KCNA4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,behavior/neurological phenotype	-,-	ICGC,
chr10	99290918	99290918	A	G	intronic	UBTD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr7	52796290	52796290	G	A	intergenic	COBL,POM121L12	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	nervous system phenotype,-	-,-	ICGC,
chr2	175949279	175949279	G	A	intronic	ATF2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	integument phenotype	-	ICGC,
chr15	43370938	43370938	G	T	intronic	UBR1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1676208	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging	Johanson-Blizzard syndrome	COSMIC,ICGC,
chr2	50031239	50031239	A	T	intergenic	FSHR,NRXN1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9376999	-	OV-AU|1|93|0.01075	-	-	integument phenotype,mortality/aging	Ovarian hyperstimulation syndrome|Ovarian hyperstimulation syndrome, association with|PCOS, association|PCOS, association with|Poor ovarian response to gonadotrophin stimulation, association|Premature ovarian failure|Premature ovarian failure, association with|Premature ovarian failure, early-onset|Primary amenorrhea|Reduced mRNA and protein expression, association with|Secondary amenorrhea|Serum FSH levels, association with|Sterility|Twinning, dizygotic|Ovarian hyperstimulation response, association with|Ovarian cancer, association with|Ovarian cancer susceptibility, association with|Decr. total testes volume and altered serum reproductive hormone levels, in men, association with.|Decreased promoter activity|Endometriosis risk, association with|Endometriosis, risk, association with|FSHR activation|FSHR inactivation|Hormone levels in PCOS, association with|Hypergonadotropic hypogonadism|Menstrual cycle, length, association with|Lower basal FSH level, association with|Increased serum FSH levels, association with|Increased promoter activity|Hypertension, female, association with|Hypergonadotropic ovarian failure,Hypotonia|Hypotonia & encephalopathy|Increased white matter volume, association with|Intellectual disability  |Intellectual disability & attention deficit hyperactivity disorder|Intellectual disability & hearing loss|Intellectual disability & pervasive developmental disorder|Intellectual disability and autism|Intellectual disability, nonsyndromic |Intellectual disability, seizures, dysmorphisms & language delay|Growth retardation  |Epilepsy, myoclonic seizures & speech delay|Developmental disorder|Developmental disorder & attention deficit hyperactivity disorder|Developmental disorder, seizures & attention deficit hyperactivity disorder|Developmental/intellectual disability, hypotonia & dysmorphic features|Disorder of muscle, ligament & fascia|Encephalopathy  |Epilepsy  |Epilepsy with cognitive impairment / autism spectrum disorder|Epilepsy with focal seizures|Epilepsy, generalised |Intellectual disability, seizures, language delay & hypotonia|Language delay|Learning difficulties|Respiratory distress & sepsis|Respiratory distress syndrome|Schizophrenia |Schizophrenia, childhood onset |Schizophrenia, disorganised type|Seizures, generalized tonic-clonic & attention deficit hyperactivity disorder|Sensory integration disorder & attention deficit hyperactivity disorder|Speech delay & social communication difficulties|Tourette syndrome|Pervasive developmental disorder / hypotonia|Pervasive developmental disorder|Pervasive developmental delay / mental retardation, lack of coordination & hearing loss|Learning difficulties, ADHD & autism|Mental retardation|Mental retardation, autism, vertebral malformations|Mental retardation, Pitt-Hopkins-like|Microcephaly & mental retardation|Multiple congenital anomalies  |Multiple disabilities|Myoclonic epilepsy   |Neurodevelopmental disorder  |Vertebral anomalies|Developmental delay, speech delay & social communication difficulties|Attention deficit hyperactivity disorder |Autism spectrum disorder, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability & language delay|Autism spectrum disorder, intellectual disability, dysmorphisms, developmental delay & language delay|Autism spectrum disorder, intellectual disability, seizures & developmental delay|Autism spectrum disorder, intellectual disability, seizures, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability, seizures, dysmorphisms & language delay|Autism spectrum disorder, seizures, developmental delay & language delay|Autism, intellectual disability & attention deficit hyperactivity disorder|Autistic disorder|Autism spectrum disorder with developmental & speech delay|Autism spectrum disorder & seizures|Autism spectrum disorder & language delay|Autism |Autism & learning difficulties|Autism & mental retardation|Autism & seizures|Autism spectrum disorder|Autism spectrum disorder & attention deficit hyperactivity disorder|Autism spectrum disorder & developmental delay|Autism spectrum disorder & dysmorphic features|Autism spectrum disorder & intellectual disability|Behavioural problems|Congenital heart defect  |Craniofacial dysmorphism|Developmental delay & speech/motor delay|Developmental delay with early-onset epilepsy|Developmental delay, dysmorphic features & short stature|Developmental delay, epilepsy, autism|Developmental delay, language delay & hypotonia|Developmental delay, learning difficulties, ADHD|Developmental delay, microcephaly & behavioural problems|Developmental delay, pulmonic stenosis & autism spectrum disorder|Developmental delay, short stature and diaphragmatic hernia|Developmental delay, speech delay & microcephaly|Developmental delay & seizures|Developmental delay & seizure disorder|Cystic hygroma, hydrops & micrognathia|Cystic hygroma, shortened upper limbs & fetal demise|Developmental & speech delay|Developmental delay|Developmental delay / autism|Developmental delay & autism|Developmental delay & dysmorphic features|Developmental delay & epilepsy|Developmental delay & hypotonia|Developmental delay & multiple congenital anomalies	COSMIC,ICGC,
chr17	4937880	4937880	G	T	exonic	SLC52A1	nonsynonymous	SNV	0.01	0.493	-	-	-	-	-	-	-	COSM6081451	LUAD|1|543|0.00184	-	-	-	-	-	COSMIC,TCGA,
chr1	5653188	5653188	C	T	intergenic	MIR4417,MIR4689	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	8398003	8398003	A	G	ncRNA_intronic	LOC729506	unknown	SNV	-	-	-	-	rs576055626	-	0.000199681	-	0.007	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr6	84300965	84300965	G	T	exonic	SNAP91	nonsynonymous	SNV	0.022	0.769	1.625e-05	-	rs766514515	8.283e-06	-	-	-	COSM3949497	-	LUSC-KR|1|170|0.00588	-	-	-	-	COSMIC,COSMIC,ICGC,
chr1	109815022	109815022	G	T	exonic	CELSR2	nonsynonymous	SNV	0.128	0.294	-	-	-	-	-	-	-	COSM893486	-	LICA-CN|1|402|0.00249	-	-	reproductive system phenotype	Schizophrenia  	COSMIC,ICGC,
chr3	173033873	173033873	-	T	intergenic	SPATA16,NLGN1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	Globozoospermia,Microcephaly, seizure disorder & intellectual disability |Autism spectrum disorder  |Autism|Anorectal malformation	ICGC,
chr2	195785713	195785713	C	T	intergenic	LOC101927431,SLC39A10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr8	111607147	111607147	C	T	intergenic	KCNV1,CSMD3	unknown	SNV	-	-	-	0.4067	rs4269512	-	0.402157	-	0.355	-	-	LAML-KR|1|205|0.00488	-	-	behavior/neurological phenotype,-	-,Schizophrenia  |Colorectal cancer 	ICGC,
chr5	82259073	82259073	C	T	intergenic	LINC01338,TMEM167A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,homeostasis/metabolism phenotype	-,-	ICGC,
chr6	134495771	134495771	A	G	intronic	SGK1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	growth/size phenotype	Reduced expression	ICGC,
chr15	57975111	57975111	G	A	intronic	GCOM1,MYZAP	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr11	79442684	79442684	G	A	intergenic	TENM4,LOC101928944	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	-,-	ICGC,
chr11	41362725	41362725	T	G	intronic	LRRC4C	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN28084773	-	PRAD-CA|1|308|0.00325	-	-	-	-	COSMIC,ICGC,
chr1	169566449	169566449	A	C	intronic	SELP	unknown	SNV	-	-	5.078e-06	-	rs752348338	8.809e-06	-	-	-	-	-	GACA-JP|1|585|0.00171	-	-	integument phenotype	Spontaneous abortion, recurrent, association with|Primary VF during acute MI, association|Potential protein deficiency|P-Selectin levels, association with|Myocardial infarction, lower risk, association|Low levels of P-selectin, association with|Incident coronary heart disease, increased risk in whites|Higher platelet SELP measures|Cell surface measures of SELP|Atopy, increased risk, association with	ICGC,
chr9	91062364	91062364	G	T	intronic	SPIN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	-	ICGC,
chr5	24073023	24073023	T	G	intergenic	PRDM9,CDH10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	reproductive system phenotype,-	Altered meiotic recombination hotspot usage|Azoospermia by meiotic arrest, association with |Azoospermia, non-obstructive ,-	ICGC,
chr17	21952766	21952766	G	A	intergenic	FLJ36000,MTRNR2L1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	ICGC,
chr3	186055477	186055477	T	C	intronic	DGKG	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-	-	ICGC,
chr15	35038217	35038217	C	G	intergenic	GOLGA8B,GJD2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,vision/eye phenotype	-,Myoclonic epilepsy, juvenile, association with	ICGC,
chr13	97879293	97879293	-	A	intronic	MBNL2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	skeleton phenotype	-	ICGC,
chr2	105878642	105878642	C	T	intergenic	GPR45,TGFBRAP1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19447753	-	-	-	-	-,-	-,HIV progression to AIDS, association with	COSMIC,
chr3	30796784	30796784	-	AGGA	intronic	GADL1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	-	ICGC,
chr7	26224237	26224237	C	T	exonic	NFE2L3	stopgain	SNV	-	-	-	-	-	-	-	-	-	-	LIHC|1|373|0.00268	-	-	-	mortality/aging	-	TCGA,
chr20	12543734	12543734	G	A	intergenic	BTBD3,LOC101929486	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	124594648	124594648	G	C	intergenic	TSN,CNTNAP5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	RECA-EU|1|422|0.00237	-	-	hematopoietic system phenotype,-	-,Autism	ICGC,
chr14	21414049	21414049	G	A	intergenic	ECRP,RNASE2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr7	105843597	105843597	C	T	intergenic	SYPL1,NAMPT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Reduced expression|Lower plasma levels of visfatin, association with|Coronary artery disease, reduced risk, association with	ICGC,
chr4	32026544	32026544	G	A	intergenic	PCDH7,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,-	-,-	ICGC,
chr4	178394649	178394649	T	A	intergenic	AGA,LINC01098	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype,-	Aspartylglucosaminuria,-	ICGC,
chr16	9344552	9344552	G	A	intergenic	MIR548X,MIR7641-2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	-,-	-,-	ICGC,
chr10	118660871	118660871	T	C	intronic	KIAA1598	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr1	194218324	194218324	C	A	intergenic	CDC73,KCNT2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype,-	Potential protein deficiency|Parathyroid carcinoma/adenoma|Parathyroid carcinoma.|Parathyroid carcinoma|Parathyroid cancer|Parathyroid adenoma.|Parathyroid adenoma |Hyperparathyroidism, primary.|Hyperparathyroidism, primary|Hyperparathyroidism, isolated|Hyperparathyroidism-jaw tumour syndrome.|Hyperparathyroidism-jaw tumour syndrome,-	ICGC,
chr17	39652438	39652438	G	C	intergenic	KRT36,KRT13	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	-,-	-,White sponge nevus	ICGC,
chr13	77273127	77273127	A	G	intergenic	LMO7DN,KCTD12	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr6	91700048	91700048	G	A	intergenic	MAP3K7,MIR4643	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	-,-	ICGC,
chr1	51823429	51823429	G	-	intronic	EPS15	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	PAEN-IT|1|37|0.02703	-	-	hematopoietic system phenotype	-	ICGC,
chr10	62078707	62078707	C	T	intronic	ANK3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Potential protein deficiency|Intellectual disability, ADHD-like syndrome & behavioural problems|Autism spectrum disorder|Autism|Attention deficit hyperactivity disorder, autism & sleeping problems	ICGC,
chr8	12312208	12312208	G	A	ncRNA_intronic	LOC100506990	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21161156	-	BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr6	170007479	170007479	T	G	intronic	WDR27	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr13	49212408	49212408	G	A	intergenic	LINC00462,CYSLTR2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Increased expression|Atopy, association with	ICGC,
chr5	62456076	62456076	T	-	intergenic	IPO11,HTR1A	unknown	deletion	-	-	-	6.468e-05	-	-	-	-	-	-	-	ESAD-UK|2|301|0.00664,BRCA-EU|1|569|0.00176,NKTL-SG|1|50|0.02000	-	-	-,mortality/aging	-,Tourette syndrome |Reduced expression|Personality disorders, association with.|Menstrual cycle-dependent fever|Major depression and suicide, association with|Major depression|Impulsive behaviour, association with|Epileptic seizures |Comorbid depression and generalized anxiety, association with|Attenuated agonist-mediated receptor down-regulation and desensitization	ICGC,
chr21	25541003	25541003	C	A	intergenic	D21S2088E,LOC101927869	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr16	86101311	86101311	A	G	intergenic	IRF8,LINC01082	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6097451	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging,-	Coronary heart disease in SLE, association with|Immunodeficiency, autosomal dominant|Immunodeficiency, autosomal recessive|Tuberculosis, association with ,-	COSMIC,ICGC,
chr5	106884385	106884385	G	C	intronic	EFNA5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN28156263	-	PRAD-CA|1|308|0.00325	-	-	mortality/aging	-	COSMIC,ICGC,
chr14	62869154	62869154	C	T	intergenic	LINC00644,KCNH5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-,behavior/neurological phenotype	-,Epileptic encephalopathy 	ICGC,
chr20	6998267	6998267	T	C	intergenic	BMP2,LINC01428	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Wolff-Parkinson-White syndrome|Wolff-Parkinson-White & Alagille syndrome|Thymoma and autoimmune disease |Reduced fat and increased muscle mass, association with|Orofacial cleft palate|Decreased mRNA stability|Colorectal cancer, increased risk, association with|Cleft palate  |Brachydactyly type A2|Bone mass, association with ,-	ICGC,
chr14	39394631	39394631	A	G	intergenic	LINC00639,SEC23A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16832219	-	PACA-CA|1|268|0.00373	-	-	-,mortality/aging	-,Autism spectrum disorder|Cranio-lenticulo-sutural dysplasia	COSMIC,ICGC,
chr12	120056565	120056565	C	T	intronic	TMEM233	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5932463	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr1	61417683	61417683	C	A	ncRNA_intronic	NFIA-AS2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PEME-CA|1|112|0.00893	-	-	-	-	ICGC,
chr2	76378068	76378068	C	T	intergenic	GCFC2,LRRTM4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr18	26150252	26150252	C	A	intergenic	CDH2,MIR302F	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	mortality/aging,-	Reduced expression|Potential protein deficiency|Alzheimer disease  ,-	ICGC,
chr14	72750234	72750234	C	T	intronic	RGS6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|3|183|0.01639	-	-	cardiovascular system phenotype	Increased protein expression	ICGC,
chr7	117252466	117252466	A	T	intronic	CFTR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging	Pancreatitis, chronic, increased risk|Non-obstructive azoospermia|Obstructive azoospermia|Obstructive azoospermia.|Oligospermia|Ovulatory infertility.|Pancreatic cancer, increased risk |Pancreatic sufficient cystic fibrosis|Pancreatitis|Pancreatitis, chronic|Pancreatitis, chronic ?|Pancreatitis, chronic, association with.|Metabolic alkalosis|Meconium ileus, lethal|Lung disease|Hypochloraemic alkalosis|Inadequate weight gain|Increased expression|Increased risk of pancreatitis in patient with mild CF|Infertility |Infertility, association with|Inflammatory bowel disease|Leukemia, risk, association with|Lung cancer|Lung cancer risk, association with|Lung cancer, reduced risk|Hypertrypsinaemia, neonatal|Pancreatitis, chronic.|RA-associated diffuse bronchiectasis/rheumatoid arthritis|Recurrent pancreatitis|Recurrent pancreatitis, and disseminated bronchiectasis|Reduced bone mineral density in cystic fibrosis|Reduced expression|Respiratory symptoms of cystic fibrosis|Respiratory/pancreatic disease, association with|Rheumatoid arthritis-associated diffuse bronchiectasis|Sarcoidosis, susceptibility to|Transient reactive papulotranslucent acrokeratoderma.|Tubal infertility.|Pulmonary disease|Pseudo-Bartter's syndrome|Proteinuria in cystic fibrosis, association with|Pancreatitis, early acute.|Pancreatitis, idiopathic|Pancreatitis, idiopathic chronic  |Pancreatitis, increased risk|Pancreatitis, necrotizing.|Pancreatitis.|Phenotype modifier|Phenotype modifier, association with|Primary sclerosing cholangitis|Primary sclerosing cholangitis, protection against|Prostate cancer protection|Typhoid fever, protection against, association with|Abs of vas def, recurr pancreatitis, and diss bronchiectasis|Azoospermia with congenital absence of the vas deferens|Azoospermia with congenital absence of vas deferens|Azoospermia without CAVD and oligospermia|Azoospermia without congenital absence of the vas deferens|Azoospermia.|Bronchial asthma, association with|Bronchial asthma, association with.|Bronchiectasis|Bronchiectasis, association with|Bronchiectasis, association with.|Bronchiectasis, disseminated.|Azoospermia with CAVD and Oligospermia|Azoospermia with and without CAVD and Oligospermia|Azoospermia with and without CAVD|Allergic bronchopulmonary aspergillosis, association with.|Altered expression|Altered splicing|Altered transcription factor binding|Anorectal malformation|Asthenospermia|Asthma|Asthma / chronic pancreatitis|Asthma-like bronchopathy|Asthma.|Azoospermia |Bronchiectasis.|Bronchitis|Cystic fibrosis, atypical|Cystic fibrosis, atypical.|Cystic fibrosis, modifier of|Cystic fibrosis.|Decreased transcription|Diabetic complications in pregnancy, association with.|Disseminated bronchiectasis|Elevated sweat chloride concentration|Fertility advantage in males, association with|Foetal hyperechogenic bowel|Hyperlipidemic pancreatitis, association with|Hypertrypsinaemia, low sweat chloride|Cystic fibrosis, association with|Cystic fibrosis related liver disease|CFTR-related disorder|Chronic obstructive pulmonary disease, reduced severity, association|Chronic pancreatitis, increased risk|Chronic pulmonary disease|Con abs of vas deferens, and disseminated bronchiectasis|Congenital absence of vas deferens|Congenital absence of vas deferens and bronchiectasis|Congenital absence of vas deferens, association|Crohn's disease, protection against, association with|Cystic fibrosis|Cystic fibrosis & sickle cell-beta thalassaemia|Cystic fibrosis related disorder	ICGC,
chr4	131851728	131851728	G	A	intergenic	LOC101927282,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr3	141962418	141962418	G	A	intergenic	GK5,XRN1	unknown	SNV	-	-	-	0.5062	rs13062802	-	0.429313	-	0.442	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr7	4548105	4548105	G	A	intergenic	SDK1,FOXK1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN14507592	-	PACA-AU|1|391|0.00256	-	-	-,mortality/aging	-,Autism	COSMIC,ICGC,
chr3	118709550	118709550	T	A	intronic	IGSF11	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	OV-AU|1|93|0.01075	-	-	-	-	ICGC,
chr15	66958225	66958225	C	T	ncRNA_intronic	LINC01169	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr9	7308754	7308754	G	A	intergenic	KDM4C,TMEM261	unknown	SNV	-	-	-	0.1772	rs13294966	-	0.138978	-	0.152	-	-	LAML-KR|1|205|0.00488	-	-	integument phenotype,-	Upper aerodigestive tract cancer, association with,-	ICGC,
chr8	84322390	84322390	T	G	intergenic	LINC01419,RALYL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr20	6318373	6318373	G	A	intergenic	FERMT1,CASC20	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	integument phenotype,-	Kindler syndrome,-	ICGC,
chr4	19426986	19426986	C	T	intergenic	LCORL,SLIT2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Schizophrenia  	ICGC,
chr20	41238500	41238500	C	T	intronic	PTPRT	unknown	SNV	-	-	-	3.231e-05	rs376878517	-	-	-	-	-	-	MELA-AU|1|183|0.00546,MALY-DE|1|241|0.00415	-	-	homeostasis/metabolism phenotype	Intellectual disability, behavioural problems, microcephaly & cardiac defect|Attention deficit hyperactivity disorder 	ICGC,
chr13	90174610	90174610	C	T	intergenic	LINC00433,LINC00353	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	32745182	32745182	C	T	intergenic	PCDH7,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr5	18706095	18706095	T	C	intergenic	LOC401177,CDH18	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25009618	-	LICA-FR|1|252|0.00397	-	-	-,-	-,Anorectal malformation	COSMIC,ICGC,
chr7	140007580	140007580	C	T	intergenic	JHDM1D-AS1,SLC37A3	unknown	SNV	-	-	-	-	rs867815248	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,Hyperinsulism	ICGC,
chr12	25384197	25384197	A	G	intronic	KRAS	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype	Lung cancer, risk, association with |Multiple diffuse schwannomas|Multiple mole melanoma syndrome|myelodysplastic/myeloproliferative disease.|Noonan syndrome|Oral cancer, reduced survival, association with|Ovarian cancer, association with|Triple-negative breast cancer, association with|HER2-overexpressed and poorly-differentiated breast cancer, in hormone replacement therapy users, association with.|Gallbladder carcinoma, increased risk, assoc with|Breast and ovarian cancer risk, association with|Cardio-facio-cutaneous syndrome|Cetuximab monotherapy response, association with|CFC/Noonan syndrome with epileptic encephalopathy|Colorectal cancer |Colorectal cancer.|Costello syndrome|Endometriosis, increased risk	ICGC,
chr13	54331194	54331194	A	G	intergenic	OLFM4,LINC00558	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	hematopoietic system phenotype,-	Potential protein deficiency,-	ICGC,
chr4	137205152	137205152	G	A	intergenic	LINC00613,PCDH18	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19463286	-	-	-	-	-,-	-,Intellectual disability  	COSMIC,
chr1	164314233	164314233	G	A	intergenic	LOC100422212,PBX1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Schizophrenia	ICGC,
chr5	94388355	94388355	G	A	intronic	MCTP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr8	49297763	49297763	G	A	intergenic	UBE2V2,LOC101929268	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-,-	-,-	ICGC,
chr6	49805166	49805166	T	C	intronic	CRISP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	NKTL-SG|1|50|0.02000	-	-	reproductive system phenotype	-	ICGC,
chr8	32662624	32662624	A	T	intergenic	NRG1,FUT10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BOCA-UK|1|130|0.00769	-	-	integument phenotype,-	Sudden cardiac death, association with|Schizophrenia, association with  |Schizophrenia in African Americans, association with|Prepulse inhibition, association with|Perceptual aberration of schizotypal personality, association with|Increased lateral ventricle volume in schizophrenia|Hirschsprung disease|Developmental delay, hypotonia & microcephaly|Alzheimers disease, association with,-	ICGC,
chr19	15916658	15916658	T	C	intergenic	OR10H5,OR10H1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr18	66650630	66650630	A	G	intronic	CCDC102B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25000673	-	LICA-FR|1|252|0.00397	-	-	-	-	COSMIC,ICGC,
chr14	42068879	42068879	C	T	intergenic	LOC644919,LRFN5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-,-	-,Short stature|Developmental delay, seizures & learning problems 	ICGC,
chr13	83569142	83569142	A	-	intergenic	NONE,SLITRK1	unknown	deletion	-	-	-	0.0001	-	-	-	-	-	-	-	PACA-AU|1|391|0.00256	-	-	-,mortality/aging	-,Trichotillomania|Tourette syndrome|Obsessive-compulsive disorder |Attention deficit hyperactivity disorder 	ICGC,
chr4	1870944	1870944	G	A	intergenic	LETM1,WHSC1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21142728	-	BRCA-EU|1|569|0.00176	-	-	-,mortality/aging	Wolf-Hirschhorn syndrome |Wolf-Hirschhorn syndrome without facial features|Wolf-Hirschhorn syndrome, neuromuscular features,Wolf-Hirschhorn syndrome, developmental delay|Wolf-Hirschhorn syndrome without facial features or seizures|Wolf-Hirschhorn syndrome	COSMIC,ICGC,
chr2	146877264	146877264	-	A	intergenic	TEX41,PABPC1P2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr14	80653926	80653926	-	GGT	intergenic	NRXN3,DIO2	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN27272090	-	-	-	-	mortality/aging,digestive/alimentary phenotype	Alcohol dependence, association with|Autism spectrum disorder  ,Symptomatic osteoarthritis, susceptibility to|Reduced serum thyroxine|Insulin resistance, association with|Insulin resistance in type 2 diabetes, association with|Hypertension, increased risk|Graves' disease, association with.|Diabetes, type 2, association with|Diabetes mellitus, type 2, early-onset, association with.|Delayed triiodothyronine secretion, association with|Altered hypothalamus-pituitary-thyroid axis set point, association with|Acute lung injury, sepsis-associated, protection against	COSMIC,
chr2	217840411	217840411	-	T	intergenic	TNP1,DIRC3	unknown	insertion	-	-	-	0.0004	rs796494408	-	-	-	-	COSN20222823	-	ESAD-UK|1|301|0.00332,OV-AU|1|93|0.01075	-	-	reproductive system phenotype,-	Oligozoospermia |Lower number of permanent teeth erupted, association with |Azoospermia ,Renal cell cancer	COSMIC,COSMIC,ICGC,
chr16	89450950	89450950	-	GGGGA	intronic	ANKRD11	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|2|67|0.02985	-	-	mortality/aging	KBG-like syndrome|KBG syndrome|Cognitive impairment, short stature & dysmorphisms|Cardiovascular malformations|Autism and intellectual disability|16q24.3 microdeletion syndrome	ICGC,
chr12	97365712	97365712	A	T	intergenic	NEDD1,RMST	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21921241	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr3	63249392	63249392	C	T	intergenic	LINC00698,SYNPR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,no phenotypic analysis	-,-	ICGC,
chr3	105859116	105859116	A	C	intergenic	CBLB,LINC00882	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15199369	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,-	Diabetes, type 1,-	COSMIC,ICGC,
chr1	38044153	38044153	T	C	intronic	GNL2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16058915	-	PACA-CA|1|268|0.00373	-	-	-	-	COSMIC,ICGC,
chr5	19442773	19442773	A	G	intergenic	NONE,CDH18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,Anorectal malformation	ICGC,
chr8	110150064	110150064	G	C	intergenic	TRHR,NUDCD1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8573757	-	MALY-DE|1|241|0.00415	-	-	reproductive system phenotype,-	Essential hypertension, association with|Isolated central hypothyroidism|Schizophrenia,-	COSMIC,ICGC,
chr17	50955632	50955632	-	A	intergenic	CA10,C17orf112	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN19492990	-	-	-	-	-,-	Schizophrenia,-	COSMIC,
chr18	77387700	77387700	TG	AA	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr11	41443714	41443714	C	T	intronic	LRRC4C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-	-	ICGC,
chr15	38429426	38429426	G	C	intergenic	LOC101928227,SPRED1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,hematopoietic system phenotype	-,Cafe-au-lait macules|Legius syndrome|Neurofibromatosis 1-like syndrome	ICGC,
chr11	5563700	5563700	T	C	intergenic	UBQLNL,OR52H1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	Potential protein deficiency,Olfactory receptor deficiency 	ICGC,
chr11	5221439	5221439	A	G	exonic	OR51V1	synonymous	SNV	-	-	8.15e-06	-	rs761475715	1.705e-05	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr7	128741013	128741013	A	T	intergenic	TPI1P2,LOC407835	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9828625	-	OV-AU|1|93|0.01075	-	-	-,-	-,-	COSMIC,ICGC,
chr8	60297075	60297075	-	AA	intergenic	TOX,CA8	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	hematopoietic system phenotype,behavior/neurological phenotype	Pulmonary tuberculosis, association  with,Ataxia, cerebellar hypoplasia|Cerebellar ataxia and quadrupedal locomotion|Cerebellar ataxia, mental retardation & dysequilibrium syndrome 3	ICGC,
chr1	225133275	225133275	C	T	intronic	DNAH14	unknown	SNV	-	-	-	0.0443	rs7415029	-	-	-	-	-	-	LAML-KR|1|205|0.00488,SKCA-BR|1|100|0.01000	-	-	-	Potential protein deficiency	ICGC,
chr6	18667332	18667332	G	A	intergenic	MIR548A1,LOC101928519	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr6	127294474	127294474	G	A	intergenic	NONE,RSPO3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19581110	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,-	COSMIC,ICGC,
chr14	59415408	59415408	C	T	ncRNA_intronic	LOC102723742	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-	-	ICGC,
chr19	29586925	29586925	T	A	intergenic	LOC100505835,UQCRFS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	-,-	ICGC,
chr3	141499573	141499573	C	T	exonic	GRK7	synonymous	SNV	-	-	-	3.229e-05	rs56022585	-	-	-	-	COSM3124809	SKCM|2|368|0.00543	SKCM-US|1|335|0.00299	-	-	-	-	COSMIC,TCGA,ICGC,
chr17	46655880	46655880	G	T	upstream	HOXB4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	integument phenotype	-	ICGC,
chr13	90820127	90820127	G	A	intergenic	LINC00559,MIR622	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr4	53019158	53019158	G	A	intergenic	SPATA18,USP46	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,behavior/neurological phenotype	-,Autism 	ICGC,
chr18	50564386	50564386	A	G	intronic	DCC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging	Altered p53 transactivation|Colorectal cancer, risk, association with |Mirror movements, congenital	ICGC,
chr1	28194517	28194517	A	T	intergenic	PPP1R8,THEMIS2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	mortality/aging,cellular phenotype	-,-	ICGC,
chr2	117355997	117355997	C	T	intergenic	DPP10,DDX18	unknown	SNV	-	-	-	0.0002	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-,-	Autism spectrum disorder,-	ICGC,
chr7	73382522	73382522	G	A	intergenic	WBSCR28,ELN	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,Subarachnoid haemorrhage, association with |Supravalvular aortic stenosis|Supravalvular aortic stenosis in Williams-Beuren syndrome|Vascular stenosis|Williams-Beuren syndrome features |Williams-Beuren syndrome, predisp. to, association with|Pulmonary valve stenosis|Peripheral pulmonary artery stenosis|Atrial septal defect and aortic dilation|Cardiomyopathy & pulmonary emphysema|Chronic obstructive pulmonary disease|Cutis laxa|Inguinal hernia, association with|Modifies self assembly and mechanical properties of elastic matrix	ICGC,
chr1	163417743	163417743	G	T	intergenic	LOC100422212,PBX1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,integument phenotype	-,Schizophrenia	ICGC,
chr20	42143909	42143909	C	T	intronic	L3MBTL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging	Autism	ICGC,
chr5	5513636	5513636	C	T	intergenic	ICE1,FLJ33360	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	125635465	125635465	T	C	ncRNA_exonic	FAM86JP	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	-	ICGC,
chr16	76889908	76889908	T	A	intergenic	LOC101928203,MIR4719	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17316482	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr15	24971701	24971701	A	G	intergenic	NPAP1,SNRPN	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,mortality/aging	-,Prader-Willi syndrome|Asperger syndrome|Angelman syndrome	ICGC,
chr13	46429902	46429902	T	G	intergenic	SIAH3,ZC3H13	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr5	24444341	24444341	C	T	intergenic	PRDM9,CDH10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	reproductive system phenotype,-	Altered meiotic recombination hotspot usage|Azoospermia by meiotic arrest, association with |Azoospermia, non-obstructive ,-	ICGC,
chr13	43522807	43522807	C	T	intronic	EPSTI1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	Potential protein deficiency	ICGC,
chr12	6655618	6655618	A	T	intronic	IFFO1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr10	85970746	85970746	C	A	intronic	CDHR1	unknown	SNV	-	-	-	-	rs753452834	8.243e-06	-	-	-	COSN19661902	-	ESCA-CN|1|332|0.00301	-	-	vision/eye phenotype	Cone dystrophy|Cone-rod dystrophy|Leber congenital amaurosis|Retinal degeneration|Retinal dystrophy |Retinitis pigmentosa	COSMIC,ICGC,
chr7	119482868	119482868	A	C	intergenic	ANKRD7,KCND2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	-,Epilepsy, temporal lobe	ICGC,
chr22	34551506	34551506	G	T	intergenic	LARGE,ISX	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1897902	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging,no phenotypic analysis	Alpha-dystroglycanopathy |Autism, non-complex|Fukushima congenital muscular dystrophy|Muscular dystrophy, congenital 1D|Walker-Warburg syndrome|Walker-Warburg syndrome.,-	COSMIC,ICGC,
chr4	75004742	75004742	G	A	intergenic	CXCL2,MTHFD2L	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	32494130	32494130	C	T	intronic	CMTM7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr10	799812	799812	A	T	intergenic	DIP2C,LARP4B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,-	Autism,-	ICGC,
chr10	49769909	49769909	C	T	intronic	ARHGAP22	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr2	4670939	4670939	C	T	intergenic	LINC01304,LINC01249	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr11	131728982	131728982	A	T	intronic	NTM	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LINC-JP|1|394|0.00254	-	-	-	Aortic aneurysm, thoracic & intracranial|Potential protein deficiency	ICGC,
chr21	32720841	32720841	A	G	intronic	TIAM1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24593429	-	GACA-CN|1|123|0.00813	-	-	cellular phenotype	-	COSMIC,ICGC,
chr3	191439185	191439185	G	A	intergenic	LINCR-0002,FGF12	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,behavior/neurological phenotype	-,-	ICGC,
chrX	130773392	130773392	A	G	intergenic	OR13H1,FIRRE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	Autism spectrum disorder,-	ICGC,
chr2	36152381	36152381	C	T	intergenic	NONE,LOC100288911	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6180096	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr19	55512854	55512854	T	G	downstream	NLRP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BOCA-UK|1|130|0.00769	-	-	-	Beckwith-Wiedemann syndrome	ICGC,
chr4	187983612	187983612	T	A	intergenic	FAT1,LOC339975	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN4608749	-	-	-	-	integument phenotype,-	Autism,-	COSMIC,COSMIC,
chr6	95242053	95242053	G	T	intergenic	TSG1,MANEA-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6338953	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr8	139634795	139634795	G	T	intronic	COL22A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr2	188971035	188971035	T	A	intergenic	TFPI,GULP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	integument phenotype,-	Increased plasma TFPI|Lower plasma TFPI|Reduced expression|Thrombophilia, association with,-	ICGC,
chr17	50193921	50193921	C	T	intronic	CA10	unknown	SNV	-	-	-	-	rs543328332	-	0.000399361	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	Schizophrenia	ICGC,
chr1	177208825	177208825	T	C	intronic	BRINP2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23531122	-	ESAD-UK|1|301|0.00332	-	-	-	-	COSMIC,ICGC,
chr1	176682009	176682009	A	G	intronic	PAPPA2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	hematopoietic system phenotype	-	ICGC,
chr6	89116438	89116438	C	T	intergenic	CNR1,LOC101928936	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Ulcerative colitis, reduced risk, association with|Sweet taste threshold, association with|Schizophrenia, hebephrenic, association with|Procedural learning, higher performance, association with|Post-traumatic stress disorder, association with.|Neuroticism, association with|IV drug dependence, susceptibility to, association|Increased waist circumference in obese men, association|Impulsive behaviour, association with|Huntington disease, age at onset, association with|Abdominal adiposity in obese men, association with |Altered function|Altered HDL cholesterol levels|Anorexia and bulimia nervosa, association with|Anorexia nervosa, binging/purging, association|Autism spectrum disorder|Cocaine dependence, association with|Colorectal cancer outcome,-	ICGC,
chr4	145460292	145460292	A	T	intergenic	GYPA,HHIP-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	MNS antigen, absence|M blood type variant|Haemolytic disease of the newborn|Blood group variation|Blood group Erik variant,-	ICGC,
chr11	116398799	116398799	C	T	intergenic	LINC00900,BUD13	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	ICGC,
chr4	127259226	127259226	C	T	intergenic	MIR2054,INTU	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-UK|1|140|0.00714	-	-	-,mortality/aging	-,Anorectal malformation	ICGC,
chr19	27843269	27843269	A	C	intergenic	NONE,LINC00662	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26085491	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr3	74552266	74552266	G	C	intronic	CNTN3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr15	65278778	65278778	G	T	intronic	SPG21	unknown	SNV	-	-	-	3.277e-05	-	-	-	-	-	COSN23922129	-	LAML-KR|1|205|0.00488	-	-	-	Mast syndrome|Spastic paraplegia  	COSMIC,ICGC,
chr13	64504699	64504699	A	T	intergenic	OR7E156P,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	ICGC,
chr12	38326642	38326642	T	A	intergenic	NONE,ALG10B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8710856	-	OV-AU|1|93|0.01075	-	-	-,-	-,Acquired long QT syndrome, protection against, association|Acquired long QT syndrome	COSMIC,ICGC,
chr2	41895009	41895009	G	A	intergenic	SLC8A1,LOC388942	unknown	SNV	-	-	-	3.23e-05	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	mortality/aging,-	Colorectal cancer, increased risk, association with |Schizophrenia  ,-	ICGC,
chr13	30580563	30580563	G	C	intergenic	LINC00544,KATNAL1	unknown	SNV	-	-	-	0.0585	rs73159381	-	0.0786741	-	0.036	-	-	ESAD-UK|1|301|0.00332	-	-	-,reproductive system phenotype	-,-	ICGC,
chr1	208241871	208241871	T	C	intronic	PLXNA2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8430449	-	OV-AU|1|93|0.01075	-	-	vision/eye phenotype	Tetralogy of Fallot	COSMIC,ICGC,
chr1	104922382	104922382	C	T	intergenic	LOC100129138,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	ICGC,
chr7	127548747	127548747	T	G	intronic	SND1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8786790	-	ESAD-UK|1|301|0.00332	-	-	-	Schizophrenia	COSMIC,ICGC,
chr13	104558508	104558508	T	A	intergenic	MIR548AS,DAOA-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chrX	112775483	112775483	A	T	intergenic	LOC101928437,HTR2C	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25047973	-	LIAD-FR|1|32|0.03125,LICA-FR|1|252|0.00397	-	-	-,integument phenotype	-,Tourette syndrome, association with|Tardive dyskinesia, association with|Suicide, association with|Reduced promoter activity|Premature ejaculation, association with|Increased promoter activity, association with|Hallucinations, in Alzheimer disease, association|Greater dopamine release|Alcohol use disorder comorbidity, association with|Anxiety, and Appetite disturbances in females, in Alzheimer disease, association with.|Bipolar affective disorder, association with|BMI, association with|Depression, in Alzheimer disease, association with.|Diabetes, association with	COSMIC,COSMIC,ICGC,
chr19	28070895	28070895	A	C	intergenic	NONE,LINC00662	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr3	162112879	162112879	C	T	intergenic	OTOL1,LINC01192	unknown	SNV	-	-	-	-	rs555256183	-	0.00219649	-	-	-	-	SKCA-BR|2|100|0.02000	-	-	-,-	-,-	ICGC,
chr4	125929179	125929179	T	G	intergenic	ANKRD50,FAT4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,mortality/aging	Schizophrenia,Periventricular neuronal heterotopia|Schizophrenia	ICGC,
chr3	117812362	117812362	C	A	intergenic	LINC00901,IGSF11	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	58461692	58461692	G	A	intergenic	IGFBP7-AS1,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr14	29230579	29230579	T	C	intergenic	LINC00645,FOXG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,West syndrome |Rett-like syndrome|Rett syndrome|Refractory epilepsy & intellectual impairment|Microcephaly, mental retardation & thin genu of corpus callosum|Mental retardation, speech impairment & epilepsy|Mental retardation & speech impairment|Mental retardation & postnatal microcephaly|Mental retardation & callosum abnormalities|Mental retardation|Infantile spasms|Hemifacial microsomia|Generalized dystonia, athetosis and parkinsonism|Developmental delay, microcephaly & hypoplasia of the corpus callosum|Developmental delay, hypotonia, microcephaly & infantile spasms|Developmental delay & slow head growth|Agenesis of corpus callosum	ICGC,
chr10	78991438	78991438	C	T	intronic	KCNMA1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21741875	-	BRCA-UK|1|141|0.00709,BRCA-EU|1|569|0.00176	-	-	mortality/aging	Hypertension, association with |Generalized epilepsy and paroxysmal dyskinesia|Autism	COSMIC,ICGC,
chr14	62705501	62705501	G	C	intergenic	LINC00644,KCNH5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,behavior/neurological phenotype	-,Epileptic encephalopathy 	ICGC,
chr6	92802197	92802197	G	A	intergenic	CASC6,EPHA7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,nervous system phenotype	-,Development delay and dysmorphic features|Leukemia, risk, association with 	ICGC,
chr3	38936407	38936407	C	T	exonic	SCN11A	nonsynonymous	SNV	0.005	0.979	4.072e-06	-	-	-	-	-	-	COSM5399298	-	-	-	-	integument phenotype	Episodic pain syndrome|Congenital indifference to pain 	COSMIC,
chr1	175150851	175150851	G	A	intronic	KIAA0040	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr8	34369208	34369208	A	C	intergenic	DUSP26,UNC5D	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8855736	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr4	32439255	32439255	A	C	intergenic	PCDH7,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr16	61994356	61994356	A	G	intronic	CDH8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype	Learning disability  |Autism & learning disability 	ICGC,
chr11	29497093	29497093	G	T	intergenic	MIR8068,KCNA4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22468070	-	BRCA-EU|1|569|0.00176	-	-	-,behavior/neurological phenotype	-,-	COSMIC,ICGC,
chr2	16568631	16568631	A	T	intergenic	MYCN,FAM49A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,-	Neuroblastoma|Feingold syndrome, hearing impairment, microcephaly & digit abnormalities|Feingold syndrome|Bilateral nephroblastomatosis,-	ICGC,
chr16	86399922	86399922	C	T	intergenic	LINC00917,FENDRR	unknown	SNV	-	-	-	0.0732	rs55698758	-	0.0684904	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr8	1532805	1532805	T	C	ncRNA_intronic	DLGAP2-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-	-	ICGC,
chr14	86144230	86144230	T	G	intergenic	FLRT2,LOC101928767	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	-,-	ICGC,
chr1	188654208	188654208	G	T	intergenic	PLA2G4A,BRINP3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27044047	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	Asthma, association with|Cryptogenic multifocal ulcerating stenosing enteritis|Increased enzyme activity|Prostanoid biosynthesis deficiency,-	COSMIC,ICGC,
chr2	49315335	49315335	G	A	intronic	FSHR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	integument phenotype	Ovarian hyperstimulation syndrome|Ovarian hyperstimulation syndrome, association with|PCOS, association|PCOS, association with|Poor ovarian response to gonadotrophin stimulation, association|Premature ovarian failure|Premature ovarian failure, association with|Premature ovarian failure, early-onset|Primary amenorrhea|Reduced mRNA and protein expression, association with|Secondary amenorrhea|Serum FSH levels, association with|Sterility|Twinning, dizygotic|Ovarian hyperstimulation response, association with|Ovarian cancer, association with|Ovarian cancer susceptibility, association with|Decr. total testes volume and altered serum reproductive hormone levels, in men, association with.|Decreased promoter activity|Endometriosis risk, association with|Endometriosis, risk, association with|FSHR activation|FSHR inactivation|Hormone levels in PCOS, association with|Hypergonadotropic hypogonadism|Menstrual cycle, length, association with|Lower basal FSH level, association with|Increased serum FSH levels, association with|Increased promoter activity|Hypertension, female, association with|Hypergonadotropic ovarian failure	ICGC,
chr7	101918490	101918490	C	T	intronic	CUX1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	-	ICGC,
chrX	110929364	110929364	G	A	splicing	ALG13	splicing	SNV	-	-	0.0005	0.0001	rs772039609	0.0006	0.000264901	-	-	-	-	-	not_specified	-	mortality/aging	Congenital disorder of glycosylation 1 |Intellectual disability, nonsyndromic	ClinVar,
chr5	5250921	5250921	C	T	intronic	ADAMTS16	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	Increased systolic blood pressure, association with	ICGC,
chr10	90951314	90951314	C	T	intergenic	MIR4679-2,CH25H	unknown	SNV	-	-	-	6.463e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,immune system phenotype	-,-	ICGC,
chr5	33325893	33325893	T	C	intergenic	LOC340113,TARS	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7938504	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	COSMIC,ICGC,
chr10	111165021	111165021	A	T	intergenic	RNU6-53P,XPNPEP1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17223761	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	COSMIC,ICGC,
chr13	31654890	31654890	G	C	intergenic	TEX26,HSPH1	unknown	SNV	-	-	-	0.2744	rs9315110	-	0.330072	-	0.362	COSN6622463	-	ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488	-	-	-,-	-,-	COSMIC,ICGC,
chr4	42991767	42991767	T	G	intronic	GRXCR1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8376725	-	MALY-DE|1|241|0.00415	-	-	behavior/neurological phenotype	Hearing impairment, nonsyndromic, autosomal recessive	COSMIC,ICGC,
chr16	5195701	5195701	T	A	intergenic	FAM86A,LOC101926950	unknown	SNV	-	-	-	0.0001	-	-	-	-	-	COSN19284672	-	CLLE-ES|1|510|0.00196	-	-	-,-	-,-	COSMIC,ICGC,
chr5	18254235	18254235	G	A	intergenic	LOC401177,CDH18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,Anorectal malformation	ICGC,
chr4	21882088	21882088	G	A	intronic	KCNIP4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Renal cell carcinoma 	ICGC,
chr8	3512154	3512154	A	T	intronic	CSMD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	Schizophrenia, association with |Hyperinsulinism|Autism|Attention deficit hyperactivity disorder 	ICGC,
chr2	41775757	41775757	A	G	intergenic	SLC8A1,LOC388942	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	mortality/aging,-	Colorectal cancer, increased risk, association with |Schizophrenia  ,-	ICGC,
chr5	76154658	76154658	C	T	intronic	S100Z	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	-	ICGC,
chr1	237300797	237300797	C	A	intronic	RYR2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Long QT syndrome|Sudden cardiac death|Sudden cardiac death.|Sudden infant death syndrome|Sudden unexplained death  |Ventricular arrhythmia, in chronic heart failure, association with.|Ventricular tachycardia, polymorphic|Left ventricular noncompaction  |Left ventricular non-compaction.|Catecholaminergic polymorphic ventricular tachycardia.|Catecholaminergic polymorphic ventricular tachycardia|Cardiac arrhythmia|Arrhythmogenic right ventricular dysplasia/cardiomyopathy|Arrhythmogenic right ventricular dysplasia type 2|Arrhythmogenic right ventricular cardiomyopathy, association with|Arrhythmogenic right ventricular cardiomyopathy|Altered channel function	ICGC,
chr7	152214206	152214206	T	A	intergenic	LINC01003,XRCC2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,integument phenotype	-,Fanconi anaemia|Cervical cancer risk, association with|Breast cancer, in non-breast feeders, reduced risk, association|Breast cancer, association with|Breast cancer  	ICGC,
chr5	46135859	46135859	G	A	intergenic	HCN1,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Idiopathic epilepsy, generalised ,-	ICGC,
chr4	26050646	26050646	A	G	intergenic	SMIM20,RBPJ	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,integument phenotype	-,Adams-Oliver syndrome|Proximal 4p deletion syndrome and epilepsy	ICGC,
chr6	22688063	22688063	C	T	intergenic	HDGFL1,NRSN1	unknown	SNV	-	-	-	0.0003	rs764021120	-	-	-	-	COSN1329874	-	LINC-JP|1|394|0.00254	-	-	-,-	-,-	COSMIC,ICGC,
chr1	58931857	58931857	G	A	intergenic	DAB1,OMA1	unknown	SNV	-	-	-	0.8188	rs338247	-	0.717851	-	0.667	COSN6461778	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,immune system phenotype	Syndromic cleft lip & palate,-	COSMIC,ICGC,
chr7	121576002	121576002	T	C	intronic	PTPRZ1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	integument phenotype	-	ICGC,
chr19	21992314	21992314	T	C	exonic	ZNF43	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM3103204	-	-	-	-	-	-	COSMIC,
chr12	70632980	70632980	T	C	ncRNA_intronic	LOC101928062	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5718706	-	LINC-JP|1|394|0.00254	-	-	-	-	COSMIC,ICGC,
chr1	166218724	166218724	T	G	intergenic	FAM78B,FMO9P	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26075592	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr4	53993168	53993168	G	A	intronic	SCFD2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr14	106326735	106326735	G	C	intergenic	ELK2AP,KIAA0125	unknown	SNV	-	-	-	-	rs145727311	-	-	-	-	COSN25579401	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	COSMIC,ICGC,
chr4	176512491	176512491	C	T	intergenic	ADAM29,GPM6A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,reproductive system phenotype	-,Claustrophobia, association with	ICGC,
chr5	99591298	99591298	T	A	intergenic	CTD-2151A2.1,LOC100133050	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr10	121496566	121496566	C	T	intronic	INPP5F	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	cardiovascular system phenotype	-	ICGC,
chr7	52633985	52633985	G	A	intergenic	COBL,POM121L12	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	nervous system phenotype,-	-,-	ICGC,
chrX	127385082	127385082	G	A	intergenic	ACTRT1,SMARCA1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,behavior/neurological phenotype	-,-	ICGC,
chr21	45600153	45600153	C	T	intergenic	C21orf33,ICOSLG	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PEME-CA|1|112|0.00893	-	-	-,hematopoietic system phenotype	-,-	ICGC,
chr11	116129806	116129806	G	A	intergenic	LINC00900,BUD13	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	23331511	23331511	G	A	intergenic	CDH12,PRDM9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|2|183|0.01093	-	-	-,reproductive system phenotype	Lung cancer, susceptibility to, association with,Altered meiotic recombination hotspot usage|Azoospermia by meiotic arrest, association with |Azoospermia, non-obstructive 	ICGC,
chr18	63867015	63867015	T	G	intergenic	CDH7,CDH19	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15313810	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,Tetralogy of Fallot	COSMIC,ICGC,
chr2	167322901	167322901	T	C	intronic	SCN7A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	taste/olfaction phenotype	-	ICGC,
chr1	171017667	171017667	G	A	intronic	MROH9	unknown	SNV	-	-	-	6.468e-05	rs537248310	-	0.000199681	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr7	145726791	145726791	C	T	intergenic	TPK1,CNTNAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	Thiamine pyrophosphokinase deficiency|Leigh-like disease|Colorectal cancer, increased risk, association with |Autism,Gilles de la Tourette syndrome|Intellectual disability  |Learning disability & speech problems|Mental retardation |Mental retardation, Pitt-Hopkins-like|Multiple congenital anomalies  |Seizures, neonatal |Speech delay  |Stuttering |Epileptic encephalopathy  |Epilepsy and schizophrenia|Autism|Autism spectrum disorder |Autism spectrum disorder, modifier of|Childhood apraxia of speech|Cortical dysplasia-focal epilepsy syndrome|Developmental and/or speech and/or behavioural problems|Developmental delay  |Developmental delay & dysmorphic features|Dyslexia 	ICGC,
chr10	45123272	45123272	-	A	intergenic	CXCL12,TMEM72-AS1	unknown	insertion	-	-	-	0.0025	-	-	-	-	-	COSN27385518	-	-	-	-	mortality/aging,-	Increased susceptibility to HIV type 1 infection|HIV-1 disease progression, association with|Disease progression in HIV, association with.|Delayed onset of AIDS, association with|Coronary artery disease, susceptibility to|Chronic myeloproliferative disease, association with,-	COSMIC,
chr10	8888083	8888083	C	T	intergenic	LINC00708,LOC101928272	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr7	57811478	57811478	C	T	intergenic	ZNF716,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr7	87760586	87760586	A	G	exonic	ADAM22	nonsynonymous	SNV	0.074	0.799	1.223e-05	3.232e-05	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Autism	ICGC,
chr5	25352054	25352054	C	T	intergenic	LOC340107,CDH9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr2	140701323	140701323	G	A	intergenic	YY1P2,LRP1B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,Schizophrenia   	ICGC,
chr2	212811067	212811067	G	A	intronic	ERBB4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6936397	-	PACA-AU|1|391|0.00256	-	-	integument phenotype	Schizophrenia |Oligohydramnios|Intellectual disability, hyperactivity & speech developmental delay|Increased promoter activity|Hepatocellular carcinoma, increased risk, association with|Epileptic encephalopathy, early infantile 3|Breast and colorectal cancer, association with|Bipolar disorder, association with |Bipolar disorder |Autism spectrum disorder  |Amyotrophic lateral sclerosis type 19	COSMIC,ICGC,
chr8	4426068	4426068	G	T	intronic	CSMD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	Schizophrenia, association with |Hyperinsulinism|Autism|Attention deficit hyperactivity disorder 	ICGC,
chr15	33619553	33619553	C	T	intronic	RYR3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	Schizophrenia|Hyperinsulinism|Breast cancer, increased risk, association with  	ICGC,
chr8	122222352	122222352	T	G	intergenic	SNTB1,HAS2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,Ventricular septal defect	ICGC,
chr19	22912115	22912115	T	C	intergenic	ZNF492,ZNF99	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,Potential protein deficiency	ICGC,
chr13	90027449	90027449	T	-	intergenic	LINC00433,LINC00353	unknown	deletion	-	-	-	0.0001	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408,BRCA-EU|1|569|0.00176	-	-	-,-	-,-	ICGC,
chr3	7742840	7742840	A	G	intronic	GRM7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Schizophrenia, association with  |Autism |Attention deficit hyperactivity disorder	ICGC,
chr7	85889087	85889087	C	T	intergenic	SEMA3D,GRM3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN18999850	-	CLLE-ES|1|510|0.00196	-	-	-,behavior/neurological phenotype	Total anomalous pulmonary venous connection|Tetralogy of Fallot|Hirschsprung disease   ,Schizophrenia, association with|Major depressive disorder, association with	COSMIC,ICGC,
chr6	165135001	165135001	G	A	intergenic	QKI,C6orf118	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,-	6q terminal deletion syndrome,-	ICGC,
chr6	78775403	78775403	C	A	intergenic	MEI4,IRAK1BP1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23123954	-	MALY-DE|1|241|0.00415	-	-	-,no phenotypic analysis	-,-	COSMIC,ICGC,
chr10	132434654	132434654	C	A	intergenic	GLRX3,MIR378C	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23746827	-	ORCA-IN|1|178|0.00562	-	-	mortality/aging,-	-,-	COSMIC,ICGC,
chr8	120773997	120773997	G	A	intronic	TAF2	unknown	SNV	-	-	0	0	-	-	-	-	-	COSN9974930	-	-	-	-	-	Intellectual disability  |Microcephaly, thin corpus callosum, ID syndrome	COSMIC,
chr6	160888611	160888611	C	G	ncRNA_exonic	LPAL2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	ESCA|1|185|0.00541	-	-	-	-	-	TCGA,
chr9	112489585	112489585	A	G	intronic	PALM2	unknown	SNV	-	-	-	0.0001	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	-	ICGC,
chr15	76616749	76616749	G	A	intergenic	ETFA,ISL2	unknown	SNV	-	-	-	3.229e-05	rs745507120	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,mortality/aging	Electron transfer flavoprotein deficiency|Glutaricacidaemia 2a|Glutaricaciduria 2a|Increased stability,-	ICGC,
chr7	135791628	135791628	C	T	intergenic	LUZP6,CHRM2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Reduced expression|Major depression in women, association with|Cardiomyopathy, dilated	ICGC,
chr3	144477304	144477304	A	G	intergenic	C3orf58,PLOD2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,Bruck syndrome	ICGC,
chr4	180595453	180595453	T	G	intergenic	LINC01098,LINC00290	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19048901	-	CLLE-ES|1|510|0.00196	-	-	-,-	-,-	COSMIC,ICGC,
chr7	31625970	31625970	G	A	intronic	CCDC129	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr14	104066132	104066132	C	T	intergenic	APOPT1,KLC1	unknown	SNV	-	-	-	3.291e-05	-	-	-	-	-	COSN16607243	-	PACA-CA|1|268|0.00373	-	-	-,other phenotype	-,-	COSMIC,ICGC,
chrX	119540405	119540405	T	C	intergenic	ATP1B4,LAMP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,integument phenotype	Autism spectrum disorder,Accessory atrioventricular connection |Cardiomyopathy, dilated|Cardiomypathy, hypertrophic|Danon disease|Glycogen storage disease 2b|Increased transcriptional activity|Parkinson disease  	ICGC,
chr1	17055014	17055014	A	G	intergenic	ESPNP,FAM231A	unknown	SNV	-	-	-	0.4407	rs2610582	-	-	-	0.094	COSN27915846	-	PRAD-CA|2|308|0.00649	-	-	-,-	-,-	COSMIC,COSMIC,ICGC,
chr16	57370425	57370425	A	G	intergenic	PLLP,CCL22	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,nervous system phenotype	-,Atopic dermatitis susceptibility, association with|Helicobacter pylori-related gastric carcinoma, association with	ICGC,
chr6	95470718	95470718	T	A	intergenic	TSG1,MANEA-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-UK|1|140|0.00714	-	-	-,-	-,-	ICGC,
chr15	43784664	43784664	C	-	exonic	TP53BP1	frameshift	deletion	-	-	-	-	-	-	-	-	-	COSM4611731	-	-	-	-	mortality/aging	Lung cancer, susceptibility to, association with|Lighter hair and more moles, association with|Breast cancer, ER negative, association with|Basal cell carcinoma, reduced risk, association with	COSMIC,
chr8	77172982	77172982	A	C	intergenic	HNF4G,LINC01111	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	respiratory system phenotype,-	-,-	ICGC,
chr2	26459742	26459742	-	A	exonic	HADHA	frameshift	insertion	-	-	-	-	-	-	-	-	-	COSM1407189	COAD|2|367|0.00545,COADREAD|2|489|0.00409	-	-	-	mortality/aging	Mitochondrial trifunctional protein deficiency & rhabdomyolysis|Mitochondrial trifunctional protein deficiency|Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency|LCHAD deficiency|Hemolysis, elevated liver enzymes, and low platelets	COSMIC,TCGA,
chrX	144827741	144827741	A	C	intergenic	SPANXN1,SLITRK2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr7	41875226	41875226	C	T	intergenic	INHBA-AS1,GLI3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Postaxial polydactyly A/B|Postaxial polydactyly B|Preaxial polydactyly|Preaxial polydactyly IV|Preaxial polydactyly IV.|Schizophrenia|Sub-Greig cephalopolysyndactyly syndrome|Sub-Pallister-Hall syndrome|Talipes equinovarus, congential idiopathic, association with |Tooth agenesis, association with|Postaxial polydactyly A |Pallister-Hall syndrome with genital abnormalities|Acrocallosal syndrome|Broad thumbs, postaxial polydactyly & variable syndactyly of hands/feet|Digital anomalies|Greig cephalopolysyndactyly syndrome|Greig cephalopolysyndactyly syndrome & cerebral cavernous malformations|Greig cephalopolysyndactyly syndrome with MODY2|Hypodontia, non-syndromic, association with.|Metopic craniosynostosis|Oral-facial-digital syndrome|Pallister-Hall syndrome	ICGC,
chr10	124075223	124075223	C	T	intronic	BTBD16	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr18	63002807	63002807	G	A	intergenic	LOC284294,CDH7	unknown	SNV	-	-	-	3.234e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	189493097	189493097	T	C	intronic	TP63	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	integument phenotype	EECUT plus syndrome|Limb-mammary syndrome|Lung adenocarcinoma, susceptibility to, association with|Rapp-Hodgkin syndrome|Rapp-Hodgkin/AEC/ADULT syndrome|Split hand-split foot malformation with amelogenesis imperfecta|Split-hand/split-foot and anorectal malformations.|Split-hand/split-foot malformation|EEC syndrome without clefting|EEC syndrome with linear and whorled naevoid hypermelanosis|ADULT syndrome|ADULT syndrome with cleft palate|AEC / Rapp-Hodgkin syndrome|AEC syndrome|Cleft lip, non-syndromic|Cleft palate, hypohidrosis and oligodontia|Ectrodactyly, ectodermal dysplasia, & clefting/Ectrodactyly-ectoderm. dyspl./Ectoderm. dyspl./Split hand-foot malf. type 4.|EEC syndrome	ICGC,
chr13	62226974	62226974	T	A	intergenic	PCDH20,LINC00358	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25418719	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	COSMIC,ICGC,
chr8	136927142	136927142	A	G	intergenic	KHDRBS3,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17635112	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr20	34099575	34099575	G	A	UTR3	CEP250	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chrX	49577990	49577990	-	A	intergenic	PAGE1,PAGE4	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	ICGC,
chr18	26249927	26249927	G	T	intergenic	CDH2,MIR302F	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	mortality/aging,-	Reduced expression|Potential protein deficiency|Alzheimer disease  ,-	ICGC,
chr6	41000319	41000319	G	A	intronic	UNC5CL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Potential protein deficiency	ICGC,
chr15	87476198	87476198	A	C	intronic	AGBL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	Fuchs corneal dystrophy, late-onset 	ICGC,
chr10	16866878	16866878	T	C	UTR3	CUBN	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	mortality/aging	Pulmonary atresia  |Proteinuria  |Potential protein deficiency|Megaloblastic anaemia|Imerslund-Gräsbeck syndrome|High HDL cholesterol|Albuminuria, association with	ICGC,
chr4	141700448	141700448	A	G	intergenic	TBC1D9,RNF150	unknown	SNV	-	-	-	-	rs202086111	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr6	49892838	49892838	G	A	intergenic	CRISP1,DEFB133	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	reproductive system phenotype,-	-,-	ICGC,
chrX	93089057	93089057	C	T	intergenic	FAM133A,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	25302757	25302757	C	T	intergenic	RUNX3,SYF2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23561148	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,mortality/aging	Gastric cancer, intestinal type, association with |Schizophrenia  ,-	COSMIC,ICGC,
chr18	28658876	28658876	C	T	intronic	DSC2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Potential protein deficiency|Cardiomyopathy, dilated |Atrial fibrillation without significant ventricular arrhythmias.|Arrhythmogenic right ventricular dysplasia/cardiomyopathy.|Arrhythmogenic right ventricular dysplasia/cardiomyopathy|Arrhythmogenic right ventricular cardiomyopathy	ICGC,
chr12	78112376	78112376	-	A	intergenic	E2F7,NAV3	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	-,-	ICGC,
chr3	1051291	1051291	C	T	intergenic	LINC01266,CNTN6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,behavior/neurological phenotype	-,Intellectual disability  	ICGC,
chr11	82119728	82119728	G	A	intergenic	LOC101928989,FAM181B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	179628941	179628941	C	G	exonic	TTN	unknown	SNV	-	-	-	-	-	-	-	-	-	COSM6192536	-	-	-	-	mortality/aging	Muscular dystrophy, limb girdle 2J|Myopathy|Myopathy with cellular aggregates|Potential protein deficiency|Tibial muscular dystrophy|Titinopathy|Muscular dystrophy  |Limb girdle muscular dystrophy 2J|Arrhythmogenic right ventricular cardiomyopathy|Arthrogryposis multiplex congenita with axoglial defects|Cardiac dysrhythmia|Cardiomyopathy, dilated|Cardiomyopathy, hypertrophic|Centronuclear myopathy	COSMIC,COSMIC,COSMIC,COSMIC,COSMIC,COSMIC,
chr17	31799823	31799823	G	A	intronic	ASIC2	unknown	SNV	-	-	-	3.229e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	taste/olfaction phenotype	Dyslexia 	ICGC,
chr6	170114882	170114882	G	T	exonic	PHF10	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM4918405	LIHC|1|373|0.00268	LIHC-US|1|189|0.00529	-	-	-	-	COSMIC,COSMIC,TCGA,ICGC,
chr5	127336910	127336910	T	C	intergenic	CTXN3,LINC01184	unknown	SNV	-	-	-	0.0455	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr15	50724840	50724840	T	A	intronic	USP8	unknown	SNV	-	-	-	0.0190	rs77123729	-	0.0323482	-	0.087	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Spastic paraplegia 59	ICGC,
chr11	104392611	104392611	C	T	intergenic	PDGFD,LOC102723895	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1510748	-	LIRI-JP|1|258|0.00388	-	-	-,-	Intracerebral hemorrhage, association with,-	COSMIC,ICGC,
chr4	153878430	153878430	A	G	intronic	FHDC1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26235384	-	PRAD-UK|1|140|0.00714	-	-	-	-	COSMIC,ICGC,
chr9	128014607	128014607	G	A	intergenic	HSPA5,GAPVD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	integument phenotype,-	Bipolar disorder, association with ,-	ICGC,
chrX	98043285	98043285	C	T	intergenic	DIAPH2,XRCC6P5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	cardiovascular system phenotype,-	Premature ovarian failure,-	ICGC,
chr11	117379116	117379116	C	A	intronic	DSCAML1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN4719072	-	MALY-DE|1|241|0.00415	-	-	mortality/aging	-	COSMIC,ICGC,
chr12	20644280	20644280	G	A	intronic	PDE3A	unknown	SNV	-	-	-	0.0002	rs139643389	-	0.000399361	-	0.007	COSN7321529	-	PACA-AU|1|391|0.00256	-	-	reproductive system phenotype	-	COSMIC,ICGC,
chr2	115713196	115713196	G	A	intronic	DPP10	unknown	SNV	-	-	-	6.458e-05	rs577981011	-	0.000399361	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Autism spectrum disorder	ICGC,
chr18	20046100	20046100	C	T	intergenic	CTAGE1,LOC101927571	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr16	84615125	84615125	-	CTT	intronic	COTL1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	-	ICGC,
chr12	73258473	73258473	G	A	intergenic	TRHDE,LOC101928137	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	no phenotypic analysis,-	-,-	ICGC,
chr2	19983598	19983598	C	T	intergenic	OSR1,LINC00954	unknown	SNV	-	-	-	0.0002	rs140944534	-	0.000199681	-	-	-	-	LAML-KR|1|205|0.00488	-	-	mortality/aging,-	Reduced newborn kidney size and function, association,-	ICGC,
chr9	106931304	106931304	C	T	intergenic	SMC2,OR13F1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr12	56076594	56076594	G	A	intronic	METTL7B	unknown	SNV	-	-	-	6.75e-05	rs200767179	-	-	-	-	COSN20362349	-	COCA-CN|1|321|0.00312	-	-	-	-	COSMIC,ICGC,
chr11	132935565	132935565	C	T	intronic	OPCML	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19144780	-	CLLE-ES|1|510|0.00196	-	-	no phenotypic analysis	Autism spectrum disorder  	COSMIC,ICGC,
chr11	36597543	36597543	C	T	exonic	RAG1	stopgain	SNV	-	-	8.157e-06	-	rs757797994	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	not_provided	-	integument phenotype	Immunodeficiency, severe combined, atypical|Immunodeficiency, severe combined, atypical.|Immunodeficiency, severe combined, B cell -ve|Immunodeficiency, severe combined, T & B cell -ve|Non-Hodgkin lymphoma, increased risk, association with|Omenn syndrom with aniridia |Omenn syndrome|Omenn syndrome with aniridia|Immunodeficiency, severe combined, association with|Immunodeficiency, severe combined|Immunodeficiency, combined, with granuloma and/or autoimmunity|Atypical SCID/Omenn syndrome|Autoimmunity|Autoimmunity, early-onset|CD4+ T lymphopenia|CMV infection|Destructive midline granulomatous disease|Granulomatous disease, disseminated.|Idiopathic T-cell lymphopaenia.	ClinVar,ICGC,
chr20	3856200	3856200	A	G	UTR3	MAVS	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	integument phenotype	Rubella vaccine-induced immune response, association with|Systemic lupus erythematosus, increased risk, association with	ICGC,
chr17	80793719	80793719	G	A	intronic	TBCD,ZNF750	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,Seborrhea-like dermatitis with psoriasiform elements|Psoriasis, susceptibility to 	ICGC,
chr14	60257449	60257449	C	T	intronic	RTN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr5	85435445	85435445	G	A	intergenic	EDIL3,NBPF22P	unknown	SNV	-	-	-	0.0003	rs146033385	-	-	-	-	COSN20882542	-	BRCA-EU|1|569|0.00176	-	-	immune system phenotype,-	Schizophrenia  ,-	COSMIC,ICGC,
chr1	40194531	40194531	C	T	intergenic	HPCAL4,PPIE	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15202395	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr5	148835685	148835685	C	A	intergenic	MIR143HG,CSNK1A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr18	47110024	47110024	C	T	exonic	LIPG	nonsynonymous	SNV	0.343	0.0	-	-	-	-	-	-	-	COSM4072421	STAD|1|395|0.00253,STES|1|395|0.00253	STAD-US|1|289|0.00346	-	-	cardiovascular system phenotype	Reduced lipase activity|Low HDL cholesterol|Increased total cholesterol & LDL-C in Hispanics, association with ?|Hypertriglyceridaemia ?|Hypercholesterolaemia ?|Hypercholesterolaemia|Higher plasma HDL cholesterol, in African Americans, association with|Higher plasma HDL cholesterol, association with|Acute myocardial infarction, association with|CAD protection|Decreased promoter activity|Diabetic retinopathy, association with|HDL cholesterol levels, association with |Higher plasma HDL cholesterol  	COSMIC,TCGA,ICGC,
chr17	26107875	26107875	C	T	exonic	NOS2	nonsynonymous	SNV	0.128	0.124	-	-	-	-	-	-	-	COSM4064860	STAD|1|395|0.00253,STES|1|395|0.00253	STAD-US|1|289|0.00346	-	-	integument phenotype	Non-Hodgkin lymphoma, increased risk, association with|Pancreatitis, acute, association with|Pre-eclampsia, association with|Protection against silicosis in miners|Schizophrenia|Septic shock, increased risk|Severe sepsis, protection against|Ulcerative colitis, increased risk, association with  |Urinary bladder cancer risk, association with|Vitiligo, increased risk, association with|Multiple sclerosis, association with |Migraine susceptibilty, association with|Malaria, protection against, association with|Aphthous stomatitis, recurrent, association with|Atopy, association with|Atrophic gastritis, association with.|Complications in diabetes, association with|Diabetes, type 2, association with|Diabetic retinopathy, reduced risk, association|Gastric cancer, association with.|Hyperinsulinism|Hypertension, association with|Malaria, association with 	COSMIC,TCGA,ICGC,
chr5	15015894	15015894	G	A	intergenic	ANKH,LOC101929454	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Mental retardation, deafness, ankylosis & hypophosphatemia|Intellectual disability  |Craniometaphyseal dysplasia|Chondrocalcinosis, sporadic, association with|Chondrocalcinosis 2|Calcium phosphate disease,-	ICGC,
chr2	141991577	141991577	-	A	intronic	LRP1B	unknown	insertion	-	-	-	3.245e-05	-	-	-	-	-	COSN20183335	-	-	-	-	mortality/aging	Schizophrenia   	COSMIC,
chr11	132034158	132034158	A	C	intronic	NTM	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	Aortic aneurysm, thoracic & intracranial|Potential protein deficiency	ICGC,
chr17	66889629	66889629	C	A	intronic	ABCA8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-	Potential protein deficiency|Low HDL cholesterol	ICGC,
chr2	182553196	182553196	T	A	intergenic	NEUROD1,SSFA2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,integument phenotype	Potential protein deficiency|Diabetes, type 2, early-onset |Diabetes, permanent neonatal|Diabetes, MODY|Diabetes mellitus, type 2, association with|Diabetes mellitus, type 2|Diabetes mellitus, type 1, association with,-	ICGC,
chrX	61827734	61827734	G	A	intergenic	NONE,SPIN4	unknown	SNV	-	-	-	0.0002	rs372821103	-	0.000529801	-	-	-	-	LICA-CN|1|402|0.00249,PRAD-CA|1|308|0.00325	-	-	-,-	-,-	ICGC,
chr2	191714265	191714265	G	A	intergenic	NAB1,GLS	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16575576	-	PACA-CA|1|268|0.00373	-	-	integument phenotype,mortality/aging	-,Hepatic encephalopathy, in cirrhosis, association with|Schizophrenia  	COSMIC,ICGC,
chr5	29220162	29220162	C	T	intergenic	LOC101929645,LOC101929681	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	84752785	84752785	G	A	exonic	DNAH6	nonsynonymous	SNV	0.215	0.005	6.627e-06	3.234e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr19	8851470	8851470	C	G	intergenic	OR2Z1,ZNF558	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20608425	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr9	113112694	113112694	A	T	intergenic	TXNDC8,SVEP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	161731217	161731217	C	T	intergenic	OTOL1,LINC01192	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,-	-,-	ICGC,
chr1	12953487	12953487	T	C	intergenic	PRAMEF4,PRAMEF8	unknown	SNV	-	-	-	0	rs372861825	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	Potential protein deficiency,-	ICGC,
chr7	29137308	29137308	G	A	intronic	CPVL	unknown	SNV	-	-	-	0.0576	rs59572808	-	0.0822684	-	0.051	-	-	LAML-KR|1|205|0.00488	-	-	mortality/aging	-	ICGC,
chr8	19031928	19031928	TC	GT	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr16	2140596	2140596	G	A	intronic	PKD1	unknown	SNV	-	-	0.0006	0.0004	rs146430229	0.0007	0.000599042	0.0007	-	-	-	-	not_specified	-	integument phenotype	Renal cysts  |Polycystic kidney disease, autosomal dominant |Polycystic kidney disease 1, association with|Polycystic kidney disease 1|Polycystic kidney disease  |Phenotype modifier  	ClinVar,
chr3	190682424	190682424	G	A	intergenic	SNAR-I,OSTN	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr16	65023454	65023454	A	T	intronic	CDH11	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15918293	-	PACA-CA|1|268|0.00373	-	-	integument phenotype	-	COSMIC,ICGC,
chr8	40958714	40958714	G	A	intergenic	ZMAT4,SFRP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Intellectual and developmental disabilities	ICGC,
chr2	229574168	229574168	C	T	intergenic	SPHKAP,PID1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Anorectal malformation	ICGC,
chrX	21618087	21618087	C	T	intronic	CNKSR2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-	Intellectual disability, X-linked non-syndromic	ICGC,
chr1	59018390	59018390	A	C	intergenic	OMA1,TACSTD2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8142375	-	PACA-CA|1|268|0.00373	-	-	immune system phenotype,integument phenotype	-,Corneal dystrophy, gelatinous drop-like	COSMIC,ICGC,
chr10	120914639	120914639	T	A	exonic	SFXN4	stopgain	SNV	-	-	-	-	-	-	-	-	-	COSM4935823	LIHC|1|373|0.00268	LIHC-US|1|189|0.00529	-	-	-	Mitochondriopathy and macrocytic anaemia|Mitochondriopathy|Colorectal cancer 	COSMIC,TCGA,ICGC,
chr1	93824130	93824130	T	G	intronic	DR1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	-	ICGC,
chr5	161306179	161306179	A	T	intronic	GABRA1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging	Myoclonic epilepsy, juvenile|Epileptic encephalopathy  |Epilepsy, idiopathic generalised  |Epilepsy, idiopathic  |Dravet syndrome   |Childhood absence epilepsy|Altered promoter activity	ICGC,
chr9	14977914	14977914	T	A	intergenic	FREM1,LOC389705	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	integument phenotype,-	Bifid nose, renal agenesis & anorectal malformations syndrome|Craniosynostosis, isolated metopic|Diaphragmatic hernia, congenital|Manitoba-oculo-tricho-anal syndrome |Manitoba-oculo-tricho-anal syndrome with renal agenesis|Manitoba-oculo-tricho-anal syndrome with renal dysplasia,-	ICGC,
chr19	27817476	27817476	G	A	intergenic	NONE,LINC00662	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chrX	85846208	85846208	C	T	intronic	DACH2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	normal phenotype	-	ICGC,
chr3	184106025	184106025	G	A	intronic	CHRD	unknown	SNV	-	-	-	0.0019	rs866747852	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	-	ICGC,
chr2	162083205	162083205	TG	CT	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr6	91531953	91531953	A	G	intergenic	MAP3K7,MIR4643	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2182991	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging,-	-,-	COSMIC,ICGC,
chr2	59757505	59757505	C	T	intergenic	LOC101927285,MIR4432	unknown	SNV	-	-	-	0.0277	rs79306995	-	0.0203674	-	0.007	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr8	19448431	19448431	G	A	intronic	CSGALNACT1	unknown	SNV	-	-	-	6.485e-05	-	-	-	-	-	COSN8076350	-	PACA-AU|1|391|0.00256	-	-	mortality/aging	Neuropathy, hereditary motor and sensory  |Hemi-facial palsy 	COSMIC,ICGC,
chr10	58015469	58015469	C	A	intergenic	MTRNR2L5,ZWINT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	OV-AU|1|93|0.01075	-	-	-,-	-,-	ICGC,
chr3	109244301	109244301	C	A	intergenic	LINC01205,PVRL3-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16104169	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	COSMIC,ICGC,
chr10	133800648	133800648	C	T	intergenic	BNIP3,JAKMIP3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype,-	-,-	ICGC,
chr5	7517440	7517440	T	A	intronic	ADCY2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	-	-	ICGC,
chr17	38364668	38364668	T	-	intergenic	RAPGEFL1,WIPF2	unknown	deletion	-	-	-	3.254e-05	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	immune system phenotype,-	-,-	ICGC,
chr5	168068458	168068458	T	A	intergenic	PANK3,SLIT3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,mortality/aging	-,Schizophrenia  |Major depressive disorder |Autism spectrum disorder	ICGC,
chr1	247634093	247634093	T	G	intergenic	OR2B11,OR2W5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Altered receptor function|Potential protein deficiency,-	ICGC,
chr5	81507852	81507852	G	A	intronic	ATG10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	Breast cancer, reduced risk, association with	ICGC,
chr5	113787553	113787553	C	A	intronic	KCNN2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype	-	ICGC,
chr1	39199038	39199038	C	G	intergenic	LINC01343,RRAGC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr11	46729461	46729461	T	A	intergenic	ZNF408,F2	unknown	SNV	-	-	-	6.47e-05	-	-	-	-	-	COSN8681586	-	OV-AU|1|93|0.01075	-	-	-,integument phenotype	Exudative vitreoretinopathy,Stroke, association with.|Thrombosis|Thrombosis, venous|Venous thromboembolism, association with|Venous thromboembolism, in Caucasians, association with|Venous thromboembolism, in FV Leiden carriers, association|Warfarin sensitivity, association with|Pulmonary thromboembolism|Prothrombin deficiency|Altered C-reactive protein levels|Critical limb ischaemia, in peripheral arterial disease, association|Dysprothrombinaemia|Hypoprothrombinaemia|Increased plasma prothrombin levels|Kidney stone disease, association with|Potential protein deficiency	COSMIC,ICGC,
chr3	2403286	2403286	T	C	intronic	CNTN4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	nervous system phenotype	Spinocerebellar ataxia 16 |Features of 3p deletion syndrome|Autism spectrum disorder |Autism	ICGC,
chr8	11815371	11815371	G	T	intergenic	CTSB,DEFB136	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25725041	-	EOPC-DE|1|202|0.00495	-	-	integument phenotype,-	Prostate cancer, association with|Tropical calcific pancreatitis, association with,-	COSMIC,ICGC,
chr8	65464819	65464819	T	C	intergenic	MIR124-2HG,LOC401463	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	140998227	140998227	C	T	exonic	PXYLP1	synonymous	SNV	-	-	-	-	-	-	-	-	-	-	HNSC|1|512|0.00195	-	-	-	-	-	TCGA,
chr14	105996415	105996415	G	T	UTR3	TMEM121	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	Congenital heart disease, association with	ICGC,
chr16	51152387	51152387	G	A	intergenic	LOC101927334,SALL1	unknown	SNV	-	-	-	9.69e-05	-	-	-	-	-	COSN26429438	-	PRAD-UK|1|140|0.00714	-	-	-,mortality/aging	-,Townes-Brocks syndrome|Renal hypodysplasia|Multiple congenital anomalies, CNS defects, cortical blindness, and absence of psychomotor development|Lenz microphthalmia syndrome|Goldenhar syndrome 	COSMIC,ICGC,
chr4	77176768	77176768	T	C	intronic	FAM47E,FAM47E-STBD1	unknown	SNV	-	-	-	0.2749	rs7655536	-	0.428514	-	0.428	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr16	73506044	73506044	C	T	intergenic	LOC100506172,LOC101928035	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20131348	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	COSMIC,ICGC,
chr4	66381957	66381957	G	T	intronic	EPHA5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	nervous system phenotype	Mental retardation|Dravet syndrome  |Attention deficit hyperactivity disorder & learning disabilities|Alzheimer disease  	ICGC,
chr1	155645685	155645685	G	A	intronic	YY1AP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr14	45201243	45201243	C	T	intergenic	FSCB,C14orf28	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Tourette syndrome ,Schizophrenia	ICGC,
chr11	127912397	127912397	A	C	intergenic	LOC101929497,ETS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,mortality/aging	-,Systemic lupus erythematosus, association with	ICGC,
chr3	66023961	66023961	T	C	exonic	MAGI1	nonsynonymous	SNV	0.025	0.012	-	-	-	-	-	-	-	COSM5768937	-	BRCA-EU|1|569|0.00176	-	-	-	Schizophrenia  |Bipolar affective disorder  	COSMIC,COSMIC,COSMIC,ICGC,
chr2	193028474	193028474	C	T	intronic	TMEFF2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	-	ICGC,
chr10	43942318	43942318	G	A	ncRNA_intronic	ZNF487	unknown	SNV	-	-	-	6.473e-05	rs534620682	-	0.000399361	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-	-	ICGC,
chr5	94686714	94686714	G	A	intergenic	MCTP1,FAM81B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Autism spectrum disorder	ICGC,
chr3	22573047	22573047	A	G	intergenic	ZNF385D-AS2,UBE2E2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr16	34854562	34854562	C	T	intergenic	LOC100130700,FLJ26245	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332,SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr7	114097408	114097408	T	C	intronic	FOXP2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23619485	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Verbal dyspraxia, dysmorphism and developmental delay|Verbal apraxia & dysarthria|Verbal apraxia|Speech impairment, developmental delay & congenital anomalies|Speech disorder, global development & psychomotor delay|Mental retardation, dysmorphia and language delay|Left opercular polymicrogyria|Dyspraxia and language delay|Developmental verbal dyspraxia|Childhood apraxia of speech|Autism spectrum disorder 	COSMIC,ICGC,
chr2	33917275	33917275	G	A	intergenic	FAM98A,MYADML	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	163688881	163688881	G	A	intergenic	LINC01192,SI	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Sucrase isomaltase deficiency	ICGC,
chr1	57705429	57705429	A	-	intronic	DAB1	unknown	deletion	-	-	-	0	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200,LIRI-JP|1|258|0.00388	-	-	mortality/aging	Syndromic cleft lip & palate	ICGC,
chr6	44408703	44408703	C	T	intronic	CDC5L	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr1	233903692	233903692	T	G	intergenic	KCNK1,SLC35F3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	homeostasis/metabolism phenotype,-	-,-	ICGC,
chr2	51126539	51126539	C	T	intronic	NRXN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Hypotonia|Hypotonia & encephalopathy|Increased white matter volume, association with|Intellectual disability  |Intellectual disability & attention deficit hyperactivity disorder|Intellectual disability & hearing loss|Intellectual disability & pervasive developmental disorder|Intellectual disability and autism|Intellectual disability, nonsyndromic |Intellectual disability, seizures, dysmorphisms & language delay|Growth retardation  |Epilepsy, myoclonic seizures & speech delay|Developmental disorder|Developmental disorder & attention deficit hyperactivity disorder|Developmental disorder, seizures & attention deficit hyperactivity disorder|Developmental/intellectual disability, hypotonia & dysmorphic features|Disorder of muscle, ligament & fascia|Encephalopathy  |Epilepsy  |Epilepsy with cognitive impairment / autism spectrum disorder|Epilepsy with focal seizures|Epilepsy, generalised |Intellectual disability, seizures, language delay & hypotonia|Language delay|Learning difficulties|Respiratory distress & sepsis|Respiratory distress syndrome|Schizophrenia |Schizophrenia, childhood onset |Schizophrenia, disorganised type|Seizures, generalized tonic-clonic & attention deficit hyperactivity disorder|Sensory integration disorder & attention deficit hyperactivity disorder|Speech delay & social communication difficulties|Tourette syndrome|Pervasive developmental disorder / hypotonia|Pervasive developmental disorder|Pervasive developmental delay / mental retardation, lack of coordination & hearing loss|Learning difficulties, ADHD & autism|Mental retardation|Mental retardation, autism, vertebral malformations|Mental retardation, Pitt-Hopkins-like|Microcephaly & mental retardation|Multiple congenital anomalies  |Multiple disabilities|Myoclonic epilepsy   |Neurodevelopmental disorder  |Vertebral anomalies|Developmental delay, speech delay & social communication difficulties|Attention deficit hyperactivity disorder |Autism spectrum disorder, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability & language delay|Autism spectrum disorder, intellectual disability, dysmorphisms, developmental delay & language delay|Autism spectrum disorder, intellectual disability, seizures & developmental delay|Autism spectrum disorder, intellectual disability, seizures, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability, seizures, dysmorphisms & language delay|Autism spectrum disorder, seizures, developmental delay & language delay|Autism, intellectual disability & attention deficit hyperactivity disorder|Autistic disorder|Autism spectrum disorder with developmental & speech delay|Autism spectrum disorder & seizures|Autism spectrum disorder & language delay|Autism |Autism & learning difficulties|Autism & mental retardation|Autism & seizures|Autism spectrum disorder|Autism spectrum disorder & attention deficit hyperactivity disorder|Autism spectrum disorder & developmental delay|Autism spectrum disorder & dysmorphic features|Autism spectrum disorder & intellectual disability|Behavioural problems|Congenital heart defect  |Craniofacial dysmorphism|Developmental delay & speech/motor delay|Developmental delay with early-onset epilepsy|Developmental delay, dysmorphic features & short stature|Developmental delay, epilepsy, autism|Developmental delay, language delay & hypotonia|Developmental delay, learning difficulties, ADHD|Developmental delay, microcephaly & behavioural problems|Developmental delay, pulmonic stenosis & autism spectrum disorder|Developmental delay, short stature and diaphragmatic hernia|Developmental delay, speech delay & microcephaly|Developmental delay & seizures|Developmental delay & seizure disorder|Cystic hygroma, hydrops & micrognathia|Cystic hygroma, shortened upper limbs & fetal demise|Developmental & speech delay|Developmental delay|Developmental delay / autism|Developmental delay & autism|Developmental delay & dysmorphic features|Developmental delay & epilepsy|Developmental delay & hypotonia|Developmental delay & multiple congenital anomalies	ICGC,
chr3	117391069	117391069	A	T	intergenic	LINC00901,IGSF11	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr2	4251732	4251732	C	-	intergenic	LINC01304,LINC01249	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	RECA-EU|1|422|0.00237	-	-	-,-	-,-	ICGC,
chr4	86296422	86296422	CC	TT	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr7	54025758	54025758	C	T	intergenic	LINC01446,HPVC1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,-	-,-	ICGC,
chr14	62700122	62700122	T	A	intergenic	LINC00644,KCNH5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5388615	-	LIRI-JP|1|258|0.00388	-	-	-,behavior/neurological phenotype	-,Epileptic encephalopathy 	COSMIC,ICGC,
chr2	100449708	100449708	T	C	intronic	AFF3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1773849	-	LIRI-JP|1|258|0.00388	-	-	skeleton phenotype	Developmental delay  |Mesomelic dysplasia	COSMIC,ICGC,
chr6	63840487	63840487	G	A	intergenic	KHDRBS2,LGSN	unknown	SNV	-	-	-	0.0001	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr6	77554872	77554872	C	T	intergenic	IMPG1,HTR1B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,skeleton phenotype	Macular dystrophy, vitelliform,Suicidal ideation, in major depression, association with|Receptor variant|Alcohol dependence, association with|Alcohol and drug abuse, association with|Aggressive behaviour, association with	ICGC,
chr1	218318898	218318898	-	TATATATAC	intergenic	LOC101929631,RRP15	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr8	96988922	96988922	G	C	intergenic	LOC100500773,GDF6	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21106776	-	BRCA-EU|1|569|0.00176	-	-	-,mortality/aging	-,Ocular & skeletal abnormalities|Leri's pleonosteosis|Leber congenital amaurosis.|Leber congenital amaurosis|Klippel-Feil syndrome|Chiari type I malformation?|Anophthalmia, bilateral 	COSMIC,ICGC,
chr3	180054246	180054246	C	A	intergenic	PEX5L,TTC14	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	behavior/neurological phenotype,-	-,-	ICGC,
chr7	43041890	43041890	G	A	intergenic	MRPL32,HECW1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	134653586	134653586	T	G	intergenic	NCKAP5,MIR3679	unknown	SNV	-	-	-	0.0002	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	Epilepsy  |Cervical artery dissection|Autism,-	ICGC,
chr5	36260336	36260336	G	A	intronic	RANBP3L	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr2	209975704	209975704	C	T	intergenic	PTH2R,MAP2	unknown	SNV	-	-	-	3.236e-05	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	no phenotypic analysis,mortality/aging	Autism spectrum disorder,Autism spectrum disorder  	ICGC,
chr18	61558079	61558079	C	T	intronic	SERPINB2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Cervical artery dissection	ICGC,
chr1	224130841	224130841	T	C	intergenic	TP53BP2,FBXO28	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging,-	-,Intellectual disability & seizures	ICGC,
chr5	4056061	4056061	A	T	intergenic	IRX1,LOC101929153	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	-,-	ICGC,
chrY	21672330	21672330	G	A	intergenic	BCORP1,TXLNGY	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	36589364	36589364	G	A	UTR3	STAC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr20	38018599	38018599	C	T	intergenic	LOC339568,LINC01370	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chrX	149685352	149685352	G	C	intergenic	MAMLD1,MTM1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,mortality/aging	46,XY disorder of sex development |Hypospadias|Potential protein deficiency,Myotubular myopathy with subdural haemorrhage.|Myotubular myopathy with peliosis hepatis|Myotubular myopathy |Centronuclear myopathy	ICGC,
chrX	116724895	116724895	G	A	intergenic	CT83,KLHL13	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|3|100|0.03000	-	-	-,-	-,Peripheral neuropathy  	ICGC,
chr2	226210457	226210457	G	A	intergenic	DOCK10,NYAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr12	21179577	21179577	C	A	intronic	SLCO1B7	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7321908	-	PAEN-AU|1|52|0.01923	-	-	-	Schizophrenia	COSMIC,COSMIC,ICGC,
chr14	46070944	46070944	G	A	intergenic	MIS18BP1,LINC00871	unknown	SNV	-	-	-	-	rs530463403	-	0.000199681	-	-	-	-	MELA-AU|3|183|0.01639	-	-	-,-	-,-	ICGC,
chr13	28428429	28428429	C	T	ncRNA_intronic	PDX1-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr1	216647717	216647717	T	C	intergenic	USH2A,ESRRG	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16433376	-	LIRI-JP|1|258|0.00388	-	-	vision/eye phenotype,mortality/aging	Retinitis pigmentosa?|Retinitis pigmentosa.|Sensorineural hearing loss, nonsyndromic  |Usher syndrome  |Usher syndrome 1  |Usher syndrome 2|Usher syndrome 2a|Usher syndrome 3 |Retinitis pigmentosa, recessive, no hearing loss|Retinitis pigmentosa, autosomal recessive.|Retinitis pigmentosa, autosomal recessive |Retinitis pigmentosa|Retinal degeneration|Hearing loss, early-childhood|Deafness, non-syndromic |Deafness  |Autism spectrum disorder|Autism,Breast cancer, association with 	COSMIC,ICGC,
chr5	92452089	92452089	C	T	intergenic	ARRDC3-AS1,NR2F1-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr13	94342796	94342796	G	A	intronic	GPC6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	-	Omodysplasia|Pancreatic cancer 	ICGC,
chr5	74434758	74434758	G	T	exonic	ANKRD31	nonsynonymous	SNV	0.003	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr10	100035994	100035994	T	G	intergenic	LOXL4,PYROXD2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,Potential protein deficiency	ICGC,
chr5	30925770	30925770	A	G	intergenic	LOC101929681,CDH6	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23340856	-	MALY-DE|1|241|0.00415	-	-	-,renal/urinary system phenotype	-,-	COSMIC,ICGC,
chr8	4395714	4395714	T	-	intronic	CSMD1	unknown	deletion	-	-	-	0.0600	-	-	-	-	-	COSN27216274	-	BTCA-SG|3|71|0.04225	-	-	-	Schizophrenia, association with |Hyperinsulinism|Autism|Attention deficit hyperactivity disorder 	COSMIC,COSMIC,ICGC,
chr10	20429207	20429207	G	A	intronic	PLXDC2	unknown	SNV	-	-	-	6.49e-05	rs535567002	-	0.000199681	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	nervous system phenotype	Pancreatic cancer 	ICGC,
chr8	40035717	40035717	C	T	intergenic	C8orf4,ZMAT4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	34650110	34650110	G	A	intergenic	NONE,ARAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr10	107696336	107696336	C	T	intergenic	LOC101927549,SORCS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,other phenotype	-,Autism 	ICGC,
chr15	67059780	67059780	C	T	intronic	SMAD6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Cardiovascular malformation, congenital	ICGC,
chr10	91653202	91653202	C	T	intergenic	LINC00865,LINC01375	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr13	97360665	97360665	C	T	intronic	HS6ST3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr11	42468862	42468862	A	C	intergenic	LOC100507205,HNRNPKP3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr22	20915505	20915505	G	T	intronic	MED15	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-	-	ICGC,
chr5	149461042	149461042	A	G	intronic	CSF1R	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24445320	-	GACA-CN|1|123|0.00813	-	-	integument phenotype	Myleoid malignancy, predisposition|Leukodystrophy    |Hereditary diffuse leukoencephalopathy with spheroids|Hereditary diffuse leukodystrophy with spheroids|Asthma, increased risk, association with 	COSMIC,ICGC,
chr5	98051199	98051199	A	G	intergenic	LINC01340,RGMB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,-	ICGC,
chr7	54723451	54723451	G	A	intergenic	VSTM2A-OT1,SEC61G	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8028883	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	COSMIC,ICGC,
chr7	120248541	120248541	T	G	intronic	KCND2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype	Epilepsy, temporal lobe	ICGC,
chr2	84127616	84127616	C	T	intergenic	LOC1720,FUNDC2P2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr9	15976573	15976573	T	C	intergenic	CCDC171,C9orf92	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1376129	-	LINC-JP|1|394|0.00254	-	-	-,-	Potential protein deficiency,-	COSMIC,ICGC,
chr17	31409418	31409418	C	T	intronic	ASIC2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	taste/olfaction phenotype	Dyslexia 	ICGC,
chr18	2027440	2027440	G	T	intergenic	LINC00470,METTL4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17009199	-	PRAD-CA|1|308|0.00325	-	-	-,-	-,-	COSMIC,ICGC,
chr3	97265371	97265371	C	A	intronic	EPHA6	unknown	SNV	-	-	-	3.23e-05	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	behavior/neurological phenotype	Alzheimer disease  	ICGC,
chr3	103441613	103441613	T	C	intergenic	ZPLD1,MIR548A3	unknown	SNV	-	-	-	0.4554	rs9831195	-	0.568291	-	0.551	-	-	ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488	-	-	-,-	Cerebral cavernous malformations,-	ICGC,
chr4	34336821	34336821	CC	TT	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr11	81133759	81133759	C	G	intergenic	LOC101928944,LOC101928989	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr11	114661236	114661236	C	A	intergenic	NXPE2,CADM1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26761533	-	PRAD-FR|1|25|0.04000	-	-	-,hematopoietic system phenotype	-,Autism spectrum disorder	COSMIC,ICGC,
chr4	108166938	108166938	C	T	intergenic	DKK2,PAPSS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype,-	Schizophrenia, association with  ,-	ICGC,
chr5	16207725	16207725	G	A	intergenic	MARCH11,LOC101929505	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr8	139163041	139163041	A	T	intronic	FAM135B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22754308	-	BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr12	85666080	85666080	A	C	intergenic	LRRIQ1,ALX1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Microphthalmia with facial clefting|Mental retardation, language delay & microcephaly |Autism spectrum disorder	ICGC,
chr10	97127742	97127742	A	G	intronic	SORBS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1124793	-	-	-	-	hematopoietic system phenotype	Obesity and diabetes, reduced risk, association	COSMIC,
chr2	181127911	181127911	G	A	intergenic	CWC22,SCHLAP1	unknown	SNV	-	-	-	3.23e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	90368050	90368050	C	T	intergenic	EPHA3,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Oligozoospermia|Schizophrenia    |Sertoli-cell-only syndrome,-	ICGC,
chr3	35774401	35774401	T	A	intronic	ARPP21	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	nervous system phenotype	-	ICGC,
chr10	116418433	116418433	G	A	intronic	ABLIM1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	normal phenotype	Schizophrenia  	ICGC,
chr4	93201765	93201765	G	A	intergenic	CCSER1,GRID2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Cerebellar ataxia & tonic upgaze|Cerebellar ataxia and atrophy|Schizophrenia|Spastic paraplegia, complicated	ICGC,
chr22	41265042	41265042	C	T	exonic	XPNPEP3	nonsynonymous	SNV	0.005	0.102	8.121e-06	-	rs764087521	8.236e-06	-	-	-	COSM1714414	-	-	-	-	-	NPHP-like kidney disease	COSMIC,
chr5	177107214	177107214	G	A	intergenic	LOC202181,FAM153A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr21	38595758	38595758	G	A	UTR3	DSCR3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-	-	ICGC,
chr19	8830805	8830805	C	T	intergenic	ACTL9,OR2Z1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr7	80389009	80389009	A	G	intronic	SEMA3C	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9771818	-	RECA-EU|1|422|0.00237	-	-	mortality/aging	-	COSMIC,ICGC,
chr2	17064111	17064111	C	T	intergenic	FAM49A,RAD51AP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	104688845	104688845	C	T	intergenic	TMEM182,LOC100287010	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	ICGC,
chr11	26556412	26556412	A	T	intronic	ANO3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Craniocervical dystonia|Dystonia, primary torsion	ICGC,
chr17	2798382	2798382	C	T	intronic	RAP1GAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr17	6141574	6141574	C	A	intergenic	WSCD1,AIPL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,vision/eye phenotype	-,Retinitis pigmentosa, autosomal recessive ?|Retinal degeneration, late-onset |Retinal degeneration, autosomal recessive|Leber congenital amaurosis IV|Leber congenital amaurosis|Cone-rod dystrophy	ICGC,
chr10	107780789	107780789	C	T	intergenic	LOC101927549,SORCS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,other phenotype	-,Autism 	ICGC,
chr21	38066728	38066728	C	T	intergenic	CLDN14,SIM2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,mortality/aging	Deafness, autosomal recessive|Hearing loss, non-syndromic, autosomal recessive,-	ICGC,
chr7	77942939	77942939	A	G	intronic	MAGI2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	mortality/aging	Seizures|Schizophrenia|Myoclonic epilepsy |Infantile spasms in Williams-Beuren syndrome|Infantile spasms|Developmental delay & microcephaly|Developmental delay  |Developmental and/or speech and/or behavioural problems	ICGC,
chr20	46929664	46929664	A	G	intergenic	LOC101927457,LINC00494	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1874523	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr3	194380824	194380824	A	G	exonic	LSG1	nonsynonymous	SNV	0.001	1.0	-	-	-	-	-	-	-	COSM4917949	-	LIHC-US|1|189|0.00529	-	-	-	-	COSMIC,ICGC,
chr14	30639109	30639109	C	T	intergenic	PRKD1,G2E3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,mortality/aging	Autism spectrum disorder|Mental retardation and microcephaly|Obesity ,-	ICGC,
chr10	86743562	86743562	-	CA	intergenic	CCSER2,LOC101929624	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr16	84809471	84809471	C	T	intronic	USP10	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9654174	-	RECA-EU|1|422|0.00237	-	-	-	-	COSMIC,ICGC,
chr4	139274806	139274806	G	A	ncRNA_intronic	LINC00499	unknown	SNV	-	-	-	0.0002	rs535633390	-	0.000199681	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr3	26221056	26221056	G	A	intergenic	LINC00692,LRRC3B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,nervous system phenotype	-,-	ICGC,
chr6	147162133	147162133	G	C	downstream	STXBP5-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-	-	ICGC,
chr17	72288427	72288449	TTTTCTGTTTCTTCTTTAATTGC	-	intronic	DNAI2	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	BRCA-UK|1|141|0.00709	-	-	-	Ciliary dyskinesia, primary  	ICGC,
chr3	45622374	45622374	A	T	intergenic	LARS2,LIMD1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9552110	-	OV-AU|1|93|0.01075	-	-	-,hematopoietic system phenotype	Diabetes, type 2, risk, association with |Perrault syndrome,Schizophrenia	COSMIC,ICGC,
chr9	90163377	90163377	C	G	intronic	DAPK1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20674524	-	BRCA-EU|1|569|0.00176	-	-	cellular phenotype	Alzheimer disease, late onset, association with|Chronic lymphocytic leukaemia  |Inactivation of ERK-induced apoptosis, association	COSMIC,ICGC,
chr5	44762621	44762621	T	A	ncRNA_intronic	LOC100506674	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr3	31181431	31181431	G	A	intergenic	GADL1,STT3B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,Congenital disorder of glycosylation  |Schizophrenia	ICGC,
chr19	3053016	3053016	T	C	UTR3	AES	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging	-	ICGC,
chr2	98395161	98395161	A	G	intronic	TMEM131	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr5	134358043	134358043	C	T	intergenic	CATSPER3,PITX1	unknown	SNV	-	-	-	3.23e-05	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	reproductive system phenotype,mortality/aging	Asthenozoospermia ,Talipes equinovarus?|Lower limb malformations|Liebenberg syndrome|Features of 5q31 deletion syndrome|Clubfoot	ICGC,
chr2	38730933	38730933	G	C	ncRNA_intronic	LOC101929596	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5503401	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr7	131055163	131055163	C	T	intronic	MKLN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype	-	ICGC,
chr19	633529	633529	-	GCGCCGCCGCCGCCGCCGCC	UTR5	POLRMT	unknown	insertion	-	-	-	-	rs144095976	0.2104	0.229433	0.0221	-	-	-	PACA-AU|1|391|0.00256,PBCA-DE|1|499|0.00200,MELA-AU|1|183|0.00546	-	-	-	Potential protein deficiency	ICGC,
chr15	27706143	27706143	T	C	intronic	GABRG3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8813931	-	ESAD-UK|1|301|0.00332	-	-	-	Potential protein deficiency	COSMIC,ICGC,
chr18	58393038	58393038	C	T	intergenic	MC4R,CDH20	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype,-	Obesity, severe|Reduced activity|Reduced function   |Reduced transcriptional activity|Weight loss after gastric bypass surgery, association with|Obesity, protection against, association with|Obesity, early onset|Obesity, autosomal dominant, association with|Obesity, autosomal dominant|Obesity, association with.|Obesity|Melanocortin-4 receptor variant|Decreased body mass, association with,-	ICGC,
chr20	22191630	22191630	G	A	intergenic	LINC01432,LINC01427	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1867993	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr2	8516215	8516215	G	A	intergenic	LINC00299,LOC101929567	unknown	SNV	-	-	-	6.459e-05	rs113540768	-	-	-	-	-	-	LICA-CN|1|402|0.00249,PRAD-CA|1|308|0.00325	-	-	-,-	Developmental delay  ,-	ICGC,
chr7	151963800	151963800	G	A	intronic	KMT2C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr4	152714488	152714488	G	A	intergenic	PET112,LOC100996286	unknown	SNV	-	-	-	3.232e-05	rs760555588	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr4	28342440	28342440	-	CTGT	intergenic	STIM2,MIR4275	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	integument phenotype,-	-,-	ICGC,
chr8	116716063	116716063	A	G	intergenic	TRPS1,LINC00536	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,-	Tricho-rhino-phalangeal syndrome with supernumerary teeth|Tricho-rhino-phalangeal syndrome III|Tricho-rhino-phalangeal syndrome I|Tricho-rhino-phalangeal syndrome|Infantile scoliosis & developmental delay|Femoral neck width, association with|Ambras syndrome,-	ICGC,
chr16	4469911	4469911	A	G	intergenic	CORO7-PAM16,DNAJA3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,-	ICGC,
chr11	100064385	100064385	G	A	exonic	CNTN5	nonsynonymous	SNV	0.044	0.001	4.116e-06	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332,GACA-JP|1|585|0.00171	-	-	behavior/neurological phenotype	-	ICGC,
chr15	50890383	50890383	G	A	intronic	TRPM7	unknown	SNV	-	-	-	-	rs772574773	-	-	-	-	COSN17066359	-	-	-	-	mortality/aging	Autism|Magnesium, altered sensitivity to, association with	COSMIC,
chr3	71004609	71004609	C	T	UTR3	FOXP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Speech delay, contractures, hypertonia & blepharophimosis|Mental retardation, speech and language deficits|Intellectual disability & autism|Intellectual disability|Delayed speech/motor development & Chiari I malformation|Congenital heart defects|Childhood apraxia of speech|Autism, speech delay and deficit of motor coordination|Autism spectrum disorder  	ICGC,
chr6	144774998	144774998	G	A	exonic	UTRN	nonsynonymous	SNV	0.019	0.009	-	-	-	-	-	-	-	COSM4536207	-	-	-	-	mortality/aging	Arthrogryposis |Schizophrenia	COSMIC,
chr17	31734372	31734372	T	G	intronic	ASIC2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25919370	-	EOPC-DE|1|202|0.00495	-	-	taste/olfaction phenotype	Dyslexia 	COSMIC,ICGC,
chr20	3851013	3851025	AGCCCAAGAGCTG	-	UTR3	MAVS	unknown	deletion	-	-	-	-	-	-	-	-	-	COSN25037517	-	LICA-FR|1|252|0.00397	-	-	integument phenotype	Rubella vaccine-induced immune response, association with|Systemic lupus erythematosus, increased risk, association with	COSMIC,COSMIC,ICGC,
chrX	145779572	145779572	-	A	intergenic	MIR891A,CXorf51A	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN22776340	-	-	-	-	-,-	-,-	COSMIC,
chr2	225230054	225230054	T	G	intergenic	SERPINE2,FAM124B	unknown	SNV	-	-	-	0.1631	rs67295573	-	0.207468	-	0.239	-	-	LAML-KR|1|205|0.00488	-	-	reproductive system phenotype,-	-,-	ICGC,
chr6	45620752	45620752	C	T	intergenic	RUNX2,CLIC5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,respiratory system phenotype	Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly|Lack of typical supernumerary teeth, in cleidocranial dysplasia.|Femoral neck-bone mineral density, association with|Craniosynostosis, single-suture|Craniosynostosis|Cleidocranial dysplasia & hypophosphatasia|Cleidocranial dysplasia,-	ICGC,
chr18	30337602	30337602	T	-	intronic	KLHL14	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr15	80712654	80712654	C	A	intronic	ARNT2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging	Hypopituitarism, post-natal microcephaly, visual & renal anomalies|Reduced transcriptional activity	ICGC,
chr3	4736124	4736124	A	T	intronic	ITPR1	unknown	SNV	-	-	-	0.0521	rs57577945	-	0.0569089	-	0.058	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Spinocerebellar ataxia, congenital nonprogressive|Spinocerebellar ataxia type 16|Spinocerebellar ataxia type 15|Spinocerebellar ataxia 15/29|Spinocerebellar ataxia 15/16|Spinocerebellar ataxia 15|Schizophrenia  |Potential protein deficiency	ICGC,
chr6	69582246	69582246	A	C	intronic	BAI3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8780511	-	ESAD-UK|1|301|0.00332	-	-	-	-	COSMIC,ICGC,
chr2	31713814	31713814	G	A	intergenic	XDH,SRD5A2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,reproductive system phenotype	XDH deficiency|Xanthinuria, type 1, with bilateral renal calculi.|Xanthinuria, type 1|Potential protein deficiency|Increased activity|Hypertension, association with|Hypertension |Decreased transcriptional activity|Decreased activity,Male pseudohermaphroditism|Post-traumatic stress disorder, increased risk in males|Prostate cancer|Prostate cancer, association with|Prostate cancer, increased risk|Prostate cancer, protection against, association|Reduced enzyme activity|Steroid-5 alpha-reductase deficiency|Steroid-5 alpha-reductase deficiency.|Increased enzyme activity|Hypospadias, mild |3alpha-diol-17G concentration, association with|46,XY disorder of sex development, association with|46,XY disorder of sex development.|Alcohol craving, in addicts, association with.|Androgen insensitivity syndrome, partial|Androgen insensitivity syndrome, partial.|Breast cancer, decreased risk|Hypospadias|Hypospadias, association with	ICGC,
chr10	37960400	37960400	C	T	intergenic	MTRNR2L7,ZNF248	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	96914195	96914195	A	T	intronic	EPHA6	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6786005	-	LIRI-JP|1|258|0.00388	-	-	behavior/neurological phenotype	Alzheimer disease  	COSMIC,ICGC,
chr7	24005831	24005831	C	A	intergenic	STK31,NPY	unknown	SNV	-	-	-	0.5963	rs1549397	-	0.625	-	-	-	-	LAML-KR|1|205|0.00488	-	-	-,skeleton phenotype	-,Major depressive disorder, association with|Metabolic syndrome in coronary artery disease, association with|Schizophrenia, association with|Serum leptin levels, and waist-hip ratio, in women, association with.|Hypertension, association with|Huntington disease, age at onset, association with|Elevated plasma LDL, association with|Diabetes, type II,  in middle-aged subjects, association with|Coronary artery disease, association with|Altered response to growth factors, association with|Alcohol dependence, association with|Stress response	ICGC,
chr12	78208413	78208413	T	C	intergenic	E2F7,NAV3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21453438	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging,-	-,-	COSMIC,ICGC,
chr1	1534710	1534710	G	C	UTR3	C1orf233	unknown	SNV	-	-	0.0356	0.0378	rs79079518	0.0435	0.0485224	-	-	-	-	COCA-CN|3|321|0.00935	-	-	-	-	ICGC,
chr8	96380521	96380521	-	A	ncRNA_intronic	C8orf37-AS1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|4|71|0.05634	-	-	-	-	ICGC,
chr15	50530589	50530589	C	T	intergenic	SLC27A2,HDC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	cellular phenotype,integument phenotype	-,Tourette syndrome	ICGC,
chr5	94291207	94291207	C	T	intronic	MCTP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr20	2314752	2314752	G	A	intronic	TGM3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23707716	-	ORCA-IN|1|178|0.00562	-	-	integument phenotype	Basal cell carcinoma, increased risk, association with|Basal cell carcinoma, reduced risk, association with	COSMIC,ICGC,
chr12	102159887	102159902	CATCAAACCCACAGGA	-	exonic	GNPTAB	frameshift	deletion	-	-	-	-	-	-	-	-	-	COSM5802239	-	BRCA-EU|1|569|0.00176	-	-	vision/eye phenotype	Stuttering|Mucolipidosis, intermediate|Mucolipidosis IIIA|Mucolipidosis III|Mucolipidosis IIA/B|Mucolipidosis II/IIIAB, intermediate|Mucolipidosis II	COSMIC,ICGC,
chr1	248346340	248346340	A	C	intergenic	OR2M2,OR2M3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,-	Autism spectrum disorder,-	ICGC,
chr1	40492432	40492432	T	C	intergenic	MFSD2A,CAP1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5741206	-	LINC-JP|1|394|0.00254	-	-	-,-	Increased promoter activity,-	COSMIC,ICGC,
chr12	119599635	119599635	G	A	UTR3	SRRM4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr16	4438010	4438010	G	A	exonic	CORO7,CORO7-PAM16	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM5529111	-	-	-	-	-,-	-,-	COSMIC,
chr7	81453116	81453116	C	T	intergenic	HGF,CACNA2D1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17745125	-	ESAD-UK|1|301|0.00332,SKCA-BR|1|100|0.01000	-	-	mortality/aging,behavior/neurological phenotype	Systemic sclerosis with end-stage lung disease, assoc with|Lymphoedema |Hearing loss, non-syndromic|Breast cancer, earlier onset, association with,Short QT syndrome|Schizophrenia  |Histiocytoid cardiomyopathy|Epileptic encephalopathy  |Brugada syndrome    	COSMIC,ICGC,
chrX	12310145	12310145	C	T	intronic	FRMPD4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Mental retardation, X-linked	ICGC,
chr15	74564714	74564714	G	T	intronic	CCDC33	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21146649	-	BRCA-EU|1|569|0.00176	-	-	-	Anorectal malformation	COSMIC,ICGC,
chr11	48705362	48705362	C	T	intergenic	OR4A47,TRIM49B	unknown	SNV	-	-	-	3.236e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr16	59804903	59804903	C	T	intergenic	APOOP5,LOC101927580	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr15	33840565	33840566	AC	-	intronic	RYR3	unknown	deletion	-	-	-	6.507e-05	rs373944873	-	-	-	-	COSN27869657	-	BTCA-SG|3|71|0.04225,PRAD-CA|1|308|0.00325	-	-	behavior/neurological phenotype	Schizophrenia|Hyperinsulinism|Breast cancer, increased risk, association with  	COSMIC,COSMIC,COSMIC,ICGC,
chr18	29298340	29298340	G	A	intergenic	B4GALT6,SLC25A52	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	normal phenotype,-	-,-	ICGC,
chr3	68394784	68394784	G	T	intronic	FAM19A1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15923728	-	PACA-CA|1|268|0.00373	-	-	-	-	COSMIC,ICGC,
chr5	1441997	1441997	C	T	intronic	SLC6A3	unknown	SNV	-	-	-	3.233e-05	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	integument phenotype	Dystonia-parkinsonism, infantile|Idiopathic epilepsy, generalised, association with|Idiopathic intellectual disability, association with|Mood instability in bipolar disorder patients, association with|Parkinson disease, neuroprotection in East Asians, association with|Parkinson disease, protection against, association |Parkinson disease, susceptibility to|Posttraumatic stress disorder, association with.|Schizophrenia, association with|Short-term response to smoking cessation, association|Dorsal anterior cingulate function in ADHD, association with|Dopamine transporter deficiency syndrome|Alcoholism, association with|Attention deficit hyperactivity disorder, association with|Attention deficit hyperactivity disorder, association with.|Attention-deficit hyperactivity disorder, association|Attention-deficit hyperactivity disorder, association with|Attention-deficit hyperactivity disorder, in adults, association with.|Attention-deficit/hyperactivity disorder|Autism|Bipolar affective disorder|Cocaine dependence, association with	ICGC,
chr9	18119624	18119624	T	C	intergenic	SH3GL2,ADAMTSL1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19278486	-	CLLE-ES|1|510|0.00196	-	-	-,-	-,-	COSMIC,ICGC,
chr10	19622147	19622147	G	A	intronic	MALRD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr12	61321973	61321973	A	-	intergenic	SLC16A7,FAM19A2	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	PACA-AU|1|391|0.00256	-	-	-,-	Autism spectrum disorder,-	ICGC,
chr2	133426088	133426088	G	T	exonic	LYPD1	stopgain	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|2|402|0.00498	-	-	behavior/neurological phenotype	-	ICGC,
chr6	64298358	64298358	T	-	intergenic	PTP4A1,PHF3	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,Autism	ICGC,
chr2	135038848	135038848	A	G	intronic	MGAT5	unknown	SNV	-	-	-	0.0951	rs11686546	-	0.125599	-	0.138	-	-	ESAD-UK|1|301|0.00332	-	-	immune system phenotype	-	ICGC,
chr14	81758493	81758493	C	T	intronic	STON2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Cortical surface area, association with|Schizophrenia, association with  	ICGC,
chr1	103552264	103552264	G	A	intronic	COL11A1	unknown	SNV	-	-	-	-	rs527368322	-	0.000199681	-	-	-	-	EOPC-DE|1|202|0.00495	-	-	mortality/aging	Stickler syndrome, type 2|Stickler syndrome|Robin sequence |Osteoarthritis, early-onset|Marshall syndrome|Marshall / Stickler syndrome|Lumbar disc herniation, association with|Fibrochondrogenesis|Deafness  	ICGC,
chr7	64688403	64688403	A	T	ncRNA_intronic	LOC441242	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9505993	-	OV-AU|1|93|0.01075	-	-	-	-	COSMIC,ICGC,
chr4	11033721	11033721	C	T	intergenic	CLNK,MIR572	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9584222	-	OV-AU|1|93|0.01075	-	-	hematopoietic system phenotype,-	Immunodeficiency, common variable, association with,-	COSMIC,ICGC,
chr13	55899921	55899921	G	A	intergenic	MIR5007,PRR20A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr13	64955776	64955776	C	T	intergenic	OR7E156P,PCDH9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr10	8325792	8325792	C	T	intergenic	LINC00708,LOC101928272	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	175247142	175247142	T	A	intergenic	KIAA0040,TNR	unknown	SNV	-	-	-	3.23e-05	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,nervous system phenotype	-,Schizophrenia, association with  |Intellectual disability  	ICGC,
chr4	97712785	97712785	G	T	intergenic	PDHA2,STPG2-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5065581	-	LINC-JP|1|394|0.00254	-	-	-,-	-,-	COSMIC,ICGC,
chr6	156272512	156272512	G	A	intergenic	NOX3,ARID1B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	behavior/neurological phenotype,-	-,Schizophrenia|Nicolaides-Baraitser syndrome|Intellectual disability, plantar fat pads & facial dysmorphism|Intellectual disability, corpus callosum abnormalities, speech impairment & autism|Intellectual disability & speech impairment|Intellectual disability & agenesis of corpus callossum|Intellectual disability  |Developmental delay, dysmorphic features, dysgenesis of the corpus callosum, limb anomalies & genital hypoplasia|Coffin-Siris syndrome|Autism?|Autism spectrum disorder|Autism	ICGC,
chr2	214101386	214101386	A	G	intergenic	IKZF2,LOC100130451	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging,-	-,-	ICGC,
chr10	2614719	2614719	A	G	intergenic	LINC00701,PFKP	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr14	102862059	102862059	C	T	intronic	TECPR2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19154306	-	CLLE-ES|1|510|0.00196	-	-	-	Spastic paraparesis  	COSMIC,ICGC,
chr3	108783365	108783365	C	T	intronic	MORC1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	reproductive system phenotype	-	ICGC,
chr9	74703068	74703068	G	A	intergenic	C9orf57,GDA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr7	19715129	19715129	T	A	intergenic	FERD3L,TWISTNB	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7973752	-	PACA-AU|1|391|0.00256	-	-	cellular phenotype,-	-,-	COSMIC,ICGC,
chr13	71949701	71949701	A	T	intergenic	LINC00348,DACH1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Renal hypodysplasia	ICGC,
chr13	65365935	65365935	A	G	intergenic	OR7E156P,PCDH9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr8	101346525	101346525	C	A	intronic	RNF19A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr8	63293107	63293107	C	A	intronic	NKAIN3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2284004	-	LIRI-JP|1|258|0.00388	-	-	-	Dravet syndrome   	COSMIC,ICGC,
chr4	101344547	101344547	G	T	exonic	EMCN	nonsynonymous	SNV	0.025	0.877	-	-	-	-	-	-	-	COSM5995716	-	-	-	-	-	-	COSMIC,
chr5	30782812	30782812	C	T	intergenic	LOC101929681,CDH6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,renal/urinary system phenotype	-,-	ICGC,
chr20	41786416	41786416	G	A	intronic	PTPRT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	homeostasis/metabolism phenotype	Intellectual disability, behavioural problems, microcephaly & cardiac defect|Attention deficit hyperactivity disorder 	ICGC,
chr15	25729901	25729901	T	A	intergenic	UBE3A,ATP10A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,-	Angelman syndrome|Autism|Autism spectrum disorder  |Epileptic encephalopathy  ,Angelman syndrome	ICGC,
chr3	51377108	51377108	C	T	intronic	DOCK3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	immune system phenotype	Attention deficit hyperactivity disorder	ICGC,
chr5	28505044	28505044	C	A	intergenic	LINC01021,LSP1P3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	-,-	-,-	ICGC,
chr21	23490492	23490492	C	T	intergenic	LINC00308,D21S2088E	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	ICGC,
chr10	32178517	32178517	G	A	intronic	ARHGAP12	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	normal phenotype	-	ICGC,
chr9	12897851	12897851	-	A	intergenic	LURAP1L,MPDZ	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,-	-,Retinitis pigmentosa |Leber congenital amaurosis  |Hydrocephalus|Autism	ICGC,
chr12	20575688	20575688	G	T	intronic	PDE3A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25147767	-	MALY-DE|1|241|0.00415	-	-	reproductive system phenotype	-	COSMIC,ICGC,
chr5	162490697	162490697	C	T	intergenic	GABRG2,CCNG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,mortality/aging	Seizures, generalized tonic-clonic|Myoclonic epilepsy of infancy |Generalized epilepsy with febrile seizures plus|Febrile seizures|Epilepsy, susceptibility to|Epilepsy, idiopathic generalised  |Epilepsy, childhood absence with febrile seizures|Dravet syndrome,-	ICGC,
chr17	2605030	2605030	G	T	exonic	CLUH	nonsynonymous	SNV	0.78	0.004	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr5	30518242	30518242	-	AT	intergenic	LOC101929681,CDH6	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN27440920	-	-	-	-	-,renal/urinary system phenotype	-,-	COSMIC,
chr15	40093706	40093706	G	A	exonic	GPR176	nonsynonymous	SNV	0.3	0.001	-	-	-	-	-	-	-	COSM6673955	-	-	-	-	-	-	COSMIC,
chr5	721637	721637	C	T	intergenic	TPPP,ZDHHC11	unknown	SNV	-	-	-	0.5054	rs379110	-	-	-	0.464	COSN25613016	-	MALY-DE|1|241|0.00415	-	-	-,-	Short stature,-	COSMIC,ICGC,
chr16	24189681	24189681	G	A	intronic	PRKCB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	hematopoietic system phenotype	Reduced promoter activity	ICGC,
chr13	53782306	53782306	G	A	intergenic	OLFM4,LINC00558	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype,-	Potential protein deficiency,-	ICGC,
chr9	23868693	23868693	C	T	intergenic	ELAVL2,IZUMO3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Schizophrenia, association with  ,-	ICGC,
chr6	144210068	144210068	G	A	intronic	ZC2HC1B	unknown	SNV	-	-	-	6.468e-05	rs775496203	-	-	-	-	COSN21310911	-	BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr2	74462807	74462807	G	A	intronic	SLC4A5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	cardiovascular system phenotype	-	ICGC,
chr8	59791417	59791417	C	G	intronic	TOX	unknown	SNV	-	-	-	0.0011	rs570027602	-	0.00159744	-	-	-	-	PBCA-US|1|186|0.00538	-	-	hematopoietic system phenotype	Pulmonary tuberculosis, association  with	ICGC,
chr3	10677404	10677404	G	A	intergenic	ATP2B2-IT2,LINC00606	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr9	112462700	112462700	C	T	intronic	PALM2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9695015	-	OV-AU|1|93|0.01075	-	-	-	-	COSMIC,ICGC,
chr3	183799510	183799510	C	T	intergenic	HTR3C,HTR3E	unknown	SNV	-	-	-	0.0005	rs146420085	-	0.000599042	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Autism, association with,Irritable bowel syndrome, diarrhoea predominant, in females, association|Potential protein deficiency	ICGC,
chr1	80382921	80382921	G	T	intergenic	ELTD1,LPHN2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	normal phenotype,mortality/aging	-,Schizophrenia	ICGC,
chr1	242924238	242924238	T	C	intergenic	PLD5,LINC01347	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24125020	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	-,-	-,-	COSMIC,COSMIC,ICGC,
chr4	35173877	35173877	A	G	intergenic	NONE,ARAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr3	115362456	115362456	C	T	intronic	GAP43	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Schizophrenia  	ICGC,
chr18	39085646	39085646	G	A	ncRNA_intronic	KC6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr8	56858075	56858075	C	T	intronic	LYN	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Potential protein deficiency	ICGC,
chr5	173416444	173416444	G	T	exonic	C5orf47	nonsynonymous	SNV	0.358	0.002	-	-	-	-	-	-	-	COSM6585941	-	-	-	-	-	-	COSMIC,
chrX	144615472	144615472	A	T	intergenic	SPANXN1,SLITRK2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr8	140220214	140220214	G	A	intergenic	COL22A1,KCNK9	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20203204	-	PACA-CA|1|268|0.00373	-	-	-,respiratory system phenotype	-,Birk Barel mental retardation dysmorphism syndrome	COSMIC,ICGC,
chr5	23136501	23136501	A	G	intergenic	CDH12,PRDM9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,reproductive system phenotype	Lung cancer, susceptibility to, association with,Altered meiotic recombination hotspot usage|Azoospermia by meiotic arrest, association with |Azoospermia, non-obstructive 	ICGC,
chr10	71829089	71829089	C	A	intronic	H2AFY2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr6	100465805	100465805	G	T	ncRNA_intronic	MCHR2-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN4853696	-	MALY-DE|1|241|0.00415	-	-	-	-	COSMIC,ICGC,
chr1	214568406	214568406	C	A	intronic	PTPN14	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	vision/eye phenotype	Choanal atresia/lymphedema syndrome	ICGC,
chr14	55550877	55550877	C	A	intergenic	MAPK1IP1L,LGALS3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21757485	-	BRCA-EU|1|569|0.00176	-	-	-,integument phenotype	-,Rheumatoid arthritis, susceptibility, association|Prostate cancer, reduced risk|Breast cancer, increased risk, association with	COSMIC,ICGC,
chr9	33668264	33668264	C	T	intergenic	ANXA2P2,PTENP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr16	6322438	6322438	A	C	intronic	RBFOX1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16768937	-	PACA-CA|1|268|0.00373	-	-	mortality/aging	Muscular and feet abnormalities|Mental retardation|Epilepsy, rolandic  |Epilepsy|Developmental delay, facial dysmorphism  |Developmental delay and transposition of the great arteries|Developmental delay and diplegia|Developmental delay and craniosynostosis|Developmental delay  |Cardiac defects|Cardiac abnormalities, micrognathia and scoliosis|Autism spectrum disorder|Autism|Attention deficit hyperactivity disorder 	COSMIC,ICGC,
chr3	147870148	147870148	G	A	intergenic	LOC440982,AGTR1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Hypertrophic cardiomyopathy, association with|Increased left ventricular mass, association with|Myocardial infarction, acute, association with|Potential protein deficiency|Preeclampsia, association with|Reduced function|Renal tubular dysgenesis|Right coronary artery in STEM1, association with|Severe chronic periodontitis, association with|Hypertension, association with.|Hypertension, association with|Friedreich ataxia, modifier of|Acromegaly, association with|Atrial fibrillation, association with|Benign prostatic hyperplasia, association with|Blood pressure variation in response to potassium, association with|Body mass index, association with|Breast cancer, reduced risk|Carotid intima-media thickness, association with|Chronic kidney disease, association with|Diastolic heart failure, increased risk, association with	ICGC,
chr11	62308426	62308426	C	A	intronic	AHNAK	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	hematopoietic system phenotype	Potential protein deficiency	ICGC,
chr5	168392769	168392769	T	A	intronic	SLIT3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7910508	-	PACA-AU|1|391|0.00256	-	-	mortality/aging	Schizophrenia  |Major depressive disorder |Autism spectrum disorder	COSMIC,ICGC,
chr19	55328154	55328154	G	T	intronic	KIR3DL1	unknown	SNV	-	-	-	0.0037	rs538199836	-	0.0684904	-	-	COSN19356408	-	-	-	-	-	Reduced expression levels|Receptor surface expression|Lower HIV viral set point, association with|Increased expression levels|Altered promoter activity|Altered HLA reactivity and peptide permissiveness	COSMIC,
chr17	10554903	10554903	C	T	exonic	MYH3	nonsynonymous	SNV	-	0.951	-	-	-	-	-	-	-	COSM6041622	-	-	-	-	-	Distal arthrogryposis type 1|Distal arthrogryposis syndrome 2b|Arthrogryposis, distal, type 2B|Arthrogryposis, distal, type 2A|Arthrogryposis, distal, type 1|Arthrogryposis, distal 2B & myosin myopathy|Arthrogryposis multiplex congenita with axoglial defects	COSMIC,
chr4	178080226	178080226	G	A	intergenic	VEGFC,NEIL3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,immune system phenotype	Lymphoedema, primary, Milroy-like,-	ICGC,
chr14	99184698	99184698	T	G	downstream	C14orf177	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr12	92943037	92943037	G	A	intergenic	CLLU1,C12orf74	unknown	SNV	-	-	-	0.2096	rs111767981	-	0.172524	-	0.145	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,Potential protein deficiency|Cervical artery dissection	ICGC,
chr3	159106994	159106994	G	T	intronic	IQCJ-SCHIP1,SCHIP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332,LUSC-KR|1|170|0.00588	-	-	-,mortality/aging	-,-	ICGC,
chr18	61183044	61183044	A	G	intergenic	SERPINB5,SERPINB12	unknown	SNV	-	-	-	0.0580	rs62098278	-	0.0559105	-	0.029	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	Decreased apoptosis and increased colony formation in vitro,-	ICGC,
chr11	50372249	50372249	C	T	ncRNA_intronic	LOC646813	unknown	SNV	-	-	-	9.719e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr3	62881767	62881767	C	T	intergenic	CADPS,LINC00698	unknown	SNV	-	-	-	-	rs570235983	-	0.000798722	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,-	-,-	ICGC,
chr8	23342995	23342998	GTGT	-	intergenic	ENTPD4,SLC25A37	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|3|67|0.04478	-	-	-,integument phenotype	-,-	ICGC,
chr10	57535165	57535165	A	G	intergenic	MTRNR2L5,ZWINT	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19504505	-	-	-	-	-,-	-,-	COSMIC,
chr2	155497637	155497637	C	T	intergenic	LOC100144595,KCNJ3	unknown	SNV	-	-	-	0.0009	rs150629199	-	0.00279553	-	0.007	COSN25805451	-	EOPC-DE|1|202|0.00495	-	-	-,cardiovascular system phenotype	-,Schizophrenia, association with  	COSMIC,ICGC,
chr19	8421851	8421851	C	T	intergenic	KANK3,ANGPTL4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,mortality/aging	-,Reduced CHD risk|Lower plasma triglyceride level, association with|Lower plasma triglyceride level|Higher plasma triglyceride level|CHD risk, association with	ICGC,
chr17	28772632	28772632	C	G	intronic	CPD	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1195207	-	-	-	-	-	-	COSMIC,
chr4	140499748	140499748	G	A	intergenic	SETD7,MGST2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	-,Potential protein deficiency|Psoriasis vulgaris	ICGC,
chr6	111592768	111592768	T	-	intergenic	KIAA1919,REV3L	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	Autism spectrum disorder,Lung cancer, reduced risk  |Colorectal cancer, increased risk, association with	ICGC,
chr5	41516604	41516604	G	T	intergenic	PLCXD3,OXCT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,mortality/aging	-,3-oxoacid CoA transferase deficiency|Complex I deficiency	ICGC,
chr1	192410708	192410708	G	A	intergenic	RGS21,RGS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,hematopoietic system phenotype	-,-	ICGC,
chr9	106126826	106126826	G	A	intergenic	LOC101928496,LOC101928523	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|2|183|0.01093	-	-	-,-	-,-	ICGC,
chr3	26506603	26506603	C	T	intergenic	LINC00692,LRRC3B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,nervous system phenotype	-,-	ICGC,
chr6	72963257	72963257	A	C	intronic	RIMS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Autism|Cone-rod dystrophy|Retinitis pigmentosa, autosomal dominant	ICGC,
chr5	56837954	56837954	G	A	intergenic	ACTBL2,LINCR-0003	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN18804704	-	-	-	-	-,-	-,-	COSMIC,
chr2	237893175	237893175	T	C	intergenic	ACKR3,COPS8	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6175569	-	LIRI-JP|1|258|0.00388	-	-	-,mortality/aging	-,-	COSMIC,ICGC,
chr18	75275586	75275586	C	T	intergenic	GALR1,LINC01029	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	behavior/neurological phenotype,-	Growth hormone insufficiency,-	ICGC,
chr4	101474843	101474843	A	G	intergenic	EMCN,LINC01216	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	-,-	-,-	ICGC,
chr18	60351504	60351504	G	A	intergenic	ZCCHC2,PHLPP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,behavior/neurological phenotype	-,-	ICGC,
chr4	101166807	101166807	T	C	intergenic	DDIT4L,EMCN	unknown	SNV	-	-	-	3.241e-05	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	Potential protein deficiency,-	ICGC,
chr1	166443708	166443708	C	A	intergenic	FAM78B,FMO9P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-,-	-,-	ICGC,
chr8	85384641	85384641	G	A	intronic	RALYL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-	-	ICGC,
chr10	128883183	128883183	G	A	intronic	DOCK1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	mortality/aging	Potential protein deficiency	ICGC,
chr16	24352239	24352239	C	T	intronic	CACNG3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging	-	ICGC,
chr10	30083447	30083447	C	T	intergenic	SVIL,KIAA1462	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Autism,Autism|Coronary artery disease, association with	ICGC,
chr6	111512982	111512982	T	-	intronic	SLC16A10	unknown	deletion	-	-	-	3.252e-05	rs556940526	-	-	-	-	-	-	GACA-CN|1|123|0.00813,BRCA-EU|1|569|0.00176,LIRI-JP|1|258|0.00388	-	-	-	-	ICGC,
chr4	78405322	78405322	C	T	intergenic	CCNG2,CXCL13	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,hematopoietic system phenotype	-,-	ICGC,
chr11	39463566	39463566	G	A	intergenic	LOC101928536,LRRC4C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr15	41674978	41674978	T	G	intergenic	NUSAP1,NDUFAF1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24338597	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,-	-,Complex I deficiency|Hypertrophic cardiomyopathy, fatal infantile	COSMIC,ICGC,
chr20	25456834	25456834	C	T	exonic	NINL	synonymous	SNV	-	-	8.122e-06	-	rs143482574	1.649e-05	-	0.0002	-	COSM1025359	UCEC|1|248|0.00403	UCEC-US|1|250|0.00400	-	-	-	-	COSMIC,TCGA,ICGC,
chr8	125456042	125456042	C	T	intergenic	TMEM65,TRMT12	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr11	72519870	72519870	G	A	intergenic	STARD10,ATG16L2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	CMDI-UK|1|136|0.00735	-	-	-,-	Fasting proinsulin levels, association with,-	ICGC,
chr5	21980813	21980813	A	C	intronic	CDH12	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	Lung cancer, susceptibility to, association with	ICGC,
chr3	61651177	61651177	-	CACAAA	intronic	PTPRG	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	integument phenotype	Schizophrenia	ICGC,
chr3	134329677	134329677	C	T	intronic	KY	unknown	SNV	-	-	-	-	rs757996317	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	skeleton phenotype	-	ICGC,
chr18	10443368	10443368	G	A	intergenic	LINC01254,APCDD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,no phenotypic analysis	-,Hypotrichosis simplex  	ICGC,
chr7	35702337	35702337	C	T	intronic	HERPUD2	unknown	SNV	-	-	-	-	rs541723341	-	0.000599042	-	-	COSN27160497	-	ESAD-UK|1|301|0.00332	-	-	-	-	COSMIC,ICGC,
chr7	139077765	139077765	C	T	intronic	C7orf55-LUC7L2,LUC7L2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	ICGC,
chr10	95561427	95561427	C	T	intergenic	LGI1,SLC35G1	unknown	SNV	-	-	-	0.0005	rs533401065	-	0.000199681	-	-	-	-	MELA-AU|1|183|0.00546,MALY-DE|1|241|0.00415	-	-	integument phenotype,-	Partial epilepsy with auditory features|Hyperactive behavior in lateral temporal lobe epilepsy, association with.|Epilepsy, partial, with telephone-induced seizures|Epilepsy, partial, with auditory features|Epilepsy, lateral temporal lobe, with migraine-like episodes|Epilepsy, lateral temporal lobe, autosomal dominant|Epilepsy, focal idiopathic,-	ICGC,
chrX	80775031	80775031	T	C	intergenic	SH3BGRL,POU3F4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,X-linked mixed deafness|X-linked deafness|Sensorineural hearing loss  |Mixed hearing loss |Hearing loss, X-linked nonsyndromic|Hearing loss & mental retardation	ICGC,
chr4	129367012	129367012	T	A	intergenic	PGRMC2,JADE1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	192169788	192169788	CT	TA	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr11	96923723	96923723	C	T	intergenic	JRKL-AS1,MIR7976	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr13	23459409	23459409	A	-	intergenic	LINC00540,BASP1P1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	RECA-EU|1|422|0.00237	-	-	-,-	-,-	ICGC,
chr4	65577462	65577462	A	T	intergenic	TECRL,LOC401134	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr3	94993684	94993684	G	A	intergenic	LINC00879,MTHFD2P1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr11	81705102	81705102	T	C	ncRNA_intronic	LOC101928989	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr4	23188556	23188556	C	T	intergenic	GBA3,MIR548AJ2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	Cytosolic beta-glucosidase deficiency, association,-	ICGC,
chr2	237954838	237954838	G	C	intergenic	ACKR3,COPS8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,-	ICGC,
chr10	37324615	37324615	G	A	intergenic	LINC01452,ANKRD30A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chrX	86565319	86565319	T	A	intergenic	DACH2,KLHL4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	normal phenotype,-	-,-	ICGC,
chr8	23726385	23726385	G	A	intergenic	STC1,ADAM28	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	reproductive system phenotype,-	-,-	ICGC,
chr6	129478959	129478959	G	A	intronic	LAMA2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	mortality/aging	Muscular dystrophy, merosin deficient|Myopathy with sarcotubular proliferation|Schizophrenia  |Tuberculoid leprosy, association with |Muscular dystrophy, limb girdle|Muscular dystrophy, congenital 1A.|Muscular dystrophy, congenital 1A, atypical|Muscular dystrophy, congenital 1A|Laminin alpha 2 chain deficiency, partial|Cardiomyopathy, dilated, type 1A	ICGC,
chr16	84352066	84352066	G	A	intronic	WFDC1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr12	99646922	99646922	T	C	intronic	ANKS1B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	Sertoli-cell-only syndrome|Schizophrenia  	ICGC,
chr7	73352949	73352949	G	A	intergenic	WBSCR28,ELN	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Subarachnoid haemorrhage, association with |Supravalvular aortic stenosis|Supravalvular aortic stenosis in Williams-Beuren syndrome|Vascular stenosis|Williams-Beuren syndrome features |Williams-Beuren syndrome, predisp. to, association with|Pulmonary valve stenosis|Peripheral pulmonary artery stenosis|Atrial septal defect and aortic dilation|Cardiomyopathy & pulmonary emphysema|Chronic obstructive pulmonary disease|Cutis laxa|Inguinal hernia, association with|Modifies self assembly and mechanical properties of elastic matrix	ICGC,
chr2	40396937	40396937	T	C	ncRNA_intronic	SLC8A1-AS1	unknown	SNV	-	-	-	-	rs528951464	-	0.000199681	-	-	-	-	LAML-KR|1|205|0.00488	-	-	-	-	ICGC,
chr8	57578640	57578640	T	C	intergenic	LINC00968,IMPAD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Catel-Manzke-like syndrome|Chondrodysplasia & abnormal joint development	ICGC,
chr8	145151871	145151871	-	G	intronic	CYC1	unknown	insertion	-	-	-	0.0002	-	-	-	-	-	-	-	OV-AU|1|93|0.01075,MALY-DE|1|241|0.00415	-	-	-	Hyperglycaemia, insulin-responsive	ICGC,
chr2	30349729	30349729	T	A	intergenic	ALK,YPEL5	unknown	SNV	-	-	-	0.0011	-	-	-	-	-	COSN23908350	-	LAML-KR|1|205|0.00488	-	-	-,-	Medulloblastoma |Neuroblastoma,-	COSMIC,ICGC,
chr5	141098345	141098345	G	A	intergenic	ARAP3,PCDH1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	-,-	ICGC,
chr4	95549954	95549954	T	A	intronic	PDLIM5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	mortality/aging	Bipolar disorder and schizophrenia, association with|Schizophrenia, association with 	ICGC,
chr7	86089971	86089971	C	T	intergenic	SEMA3D,GRM3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,behavior/neurological phenotype	Total anomalous pulmonary venous connection|Tetralogy of Fallot|Hirschsprung disease   ,Schizophrenia, association with|Major depressive disorder, association with	ICGC,
chr3	194727929	194727929	A	G	intergenic	LOC100507391,XXYLT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr14	74058243	74058243	-	TA	upstream	ACOT4	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr1	159549449	159549449	C	T	intergenic	OR10J5,APCS	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	nervous system phenotype,mortality/aging	Altered receptor function,-	ICGC,
chr4	53707618	53707618	G	A	intergenic	LOC152578,RASL11B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr3	22972890	22972890	G	A	intergenic	ZNF385D-AS2,UBE2E2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr11	78956498	78956498	C	T	intronic	TENM4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	-	ICGC,
chr8	123943867	123943867	C	T	intronic	ZHX2	unknown	SNV	-	-	-	3.23e-05	rs552160904	-	0.000199681	-	-	-	-	LAML-KR|1|205|0.00488	-	-	homeostasis/metabolism phenotype	-	ICGC,
chr13	33291528	33291528	C	A	intronic	PDS5B	unknown	SNV	-	-	-	0.3092	rs9596125	-	-	-	0.022	COSN20378536	-	COCA-CN|1|321|0.00312	-	-	integument phenotype	-	COSMIC,ICGC,
chr7	21261374	21261374	G	T	intergenic	RPL23P8,SP4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,mortality/aging	-,-	ICGC,
chr12	108243972	108243972	T	G	intergenic	ASCL4,LOC728739	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr20	54406240	54406240	G	C	intergenic	LINC01441,CBLN4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25000866	-	LICA-FR|1|252|0.00397	-	-	-,normal phenotype	-,-	COSMIC,ICGC,
chr5	87301993	87301993	C	T	intergenic	CCNH,TMEM161B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr7	1463235	1463235	A	T	intergenic	UNCX,MICALL2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging,-	-,-	ICGC,
chr4	115795749	115795749	C	T	intronic	NDST4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-	-	ICGC,
chr5	135717512	135717512	G	A	intergenic	TRPC7,SPOCK1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	vision/eye phenotype,normal phenotype	-,Developmental delay & microcephaly	ICGC,
chr5	74299672	74299672	G	A	intergenic	FAM169A,GCNT4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,hematopoietic system phenotype	-,-	ICGC,
chr5	162146986	162146986	T	C	intergenic	GABRG2,CCNG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	mortality/aging,mortality/aging	Seizures, generalized tonic-clonic|Myoclonic epilepsy of infancy |Generalized epilepsy with febrile seizures plus|Febrile seizures|Epilepsy, susceptibility to|Epilepsy, idiopathic generalised  |Epilepsy, childhood absence with febrile seizures|Dravet syndrome,-	ICGC,
chrX	36578542	36578542	C	T	intergenic	RP11-87M18.2,FAM47C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr6	91957864	91957864	A	G	intergenic	MAP3K7,MIR4643	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	mortality/aging,-	-,-	ICGC,
chr2	169747715	169747715	T	G	upstream	SPC25	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr1	227593558	227593558	G	T	intergenic	CDC42BPA,ZNF678	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	209961847	209961847	C	T	exonic	IRF6	nonsynonymous	SNV	0.549	0.223	8.122e-06	-	rs750021967	8.244e-06	-	-	-	COSM3400271	GBM|1|290|0.00345,GBMLGG|1|820|0.00122	GBM-US|1|276|0.00362,PBCA-DE|1|499|0.00200	-	-	integument phenotype	VWS-PPS spectrum disorder with renal aplasia|Van der Woude syndrome with bilateral conical elevations|Van der Woude syndrome / popliteal pterygium syndrome|Van der Woude syndrome|Popliteal pterygium syndrome|Oral clefts, non-syndromic|Non-syndromic orofacial clefts, increased risk|EEC-like syndrome|Cleft lip/palate, association with|Cleft lip/palate|Cleft lip, association with	COSMIC,TCGA,ICGC,
chr1	111760037	111760037	A	G	intergenic	DENND2D,CHI3L2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5352869	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,Increased promoter activity	COSMIC,ICGC,
chr9	130206739	130206739	T	C	exonic	ZNF79	nonsynonymous	SNV	0.0	0.962	-	-	-	-	-	-	-	COSM3996314	KIPAN|1|799|0.00125,KIRP|1|282|0.00355	KIRP-US|1|165|0.00606	-	-	-	Autism spectrum disorder	COSMIC,TCGA,ICGC,
chr3	126733584	126733584	C	A	exonic	PLXNA1	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM4113160	STAD|1|395|0.00253,STES|1|395|0.00253	STAD-US|1|289|0.00346	-	-	hematopoietic system phenotype	Atrial septal defect |Schizophrenia	COSMIC,TCGA,ICGC,
chr13	86981191	86981191	C	A	intergenic	SLITRK6,MIR4500HG	unknown	SNV	-	-	-	3.342e-05	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	behavior/neurological phenotype,-	High myopia and sensorineural deafness,-	ICGC,
chr1	175419431	175419431	T	C	intronic	TNR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	nervous system phenotype	Schizophrenia, association with  |Intellectual disability  	ICGC,
chr5	113253085	113253085	G	A	intergenic	YTHDC2,KCNN2	unknown	SNV	-	-	-	0.0005	rs865943417	-	-	-	-	COSN25830995	-	EOPC-DE|1|202|0.00495	-	-	-,integument phenotype	-,-	COSMIC,ICGC,
chr3	56052523	56052523	G	A	intronic	ERC2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	vision/eye phenotype	-	ICGC,
chr20	16744858	16744858	G	A	intergenic	OTOR,PCSK2	unknown	SNV	-	-	-	3.232e-05	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,integument phenotype	Non-syndromic hearing impairment, association with|Sensorineural hearing loss, nonsyndromic  ,Diabetes, type 2, association with	ICGC,
chr3	96356852	96356852	C	T	intergenic	MIR8060,EPHA6	unknown	SNV	-	-	-	3.235e-05	rs768680060	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,behavior/neurological phenotype	-,Alzheimer disease  	ICGC,
chr11	37284906	37284906	T	C	intergenic	C11orf74,LOC103312105	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr1	64188790	64188790	G	A	intergenic	PGM1,ROR1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	Congenital disorder of glycosylation 1 |Phosphoglucomutase deficiency,-	ICGC,
chr2	7155587	7155587	C	T	intronic	RNF144A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr12	48262237	48262237	G	A	intronic	VDR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	integument phenotype	Ovarian carcinoma risk, association with|Rickets, vitamin D dependent, type II|Rickets, vitamin D resistant|Rickets, vitamin D resistant, with alopecia|Rickets, vitamin D resistant, without alopecia|Rubella vaccine-induced immune response, association with|Vitamin D status / height, association with|Melanoma, susceptibility, association with|Lower lumbar bone mineral density, association with|Inflammatory bowel disease, association with|Active calcium stone disease, association with.|Alzheimer's disease, late-onset, association with|Atrichia|Colorectal cancer, association with|Diabetic retiopathy, association with|Higher bone mineral density, association with|Increased receptor activity	ICGC,
chr1	107780357	107780357	A	G	intronic	NTNG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Rett syndrome|Autism	ICGC,
chr7	79111846	79111846	G	A	intergenic	MAGI2-AS3,MIR548M	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr5	173376517	173376517	T	A	exonic	CPEB4	nonsynonymous	SNV	0.0	0.143	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr3	32122829	32122829	G	T	intergenic	ZNF860,GPD1L	unknown	SNV	-	-	-	3.229e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Brugada syndrome|Cardiac arrhythmia|Sudden infant death syndrome	ICGC,
chr11	121491881	121491881	G	A	exonic	SORL1	nonsynonymous	SNV	0.003	1.0	-	-	-	-	-	-	-	COSM1235192	-	-	-	-	other phenotype	Alzheimer disease, association with|Alzheimer disease, early onset	COSMIC,
chr8	50538344	50538344	C	T	intergenic	C8orf22,SNTG1	unknown	SNV	-	-	-	6.462e-05	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,-	-,Autism|Intellectual disability, cleft palate, hearing loss and dysmorphisms	ICGC,
chr7	5862124	5862124	-	TG	upstream	ZNF815P	unknown	insertion	-	-	-	0.0019	-	-	-	-	-	-	-	SKCA-BR|2|100|0.02000	-	-	-	-	ICGC,
chr13	28949176	28949176	T	C	intronic	FLT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	mortality/aging	Malaria resistance in utero, association with|Cardiomyopathy, dilated|Altered response to p53	ICGC,
chrX	69261675	69261675	C	A	exonic	AWAT2	stopgain	SNV	-	-	-	-	-	-	-	-	-	COSM403191	-	-	-	-	-	-	COSMIC,
chr9	93138276	93138276	G	A	ncRNA_intronic	LOC101927873	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	-	-	ICGC,
chr1	207883522	207883522	C	T	intronic	CR1L	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Schizophrenia	ICGC,
chr18	40472062	40472062	T	C	intronic	RIT2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr1	55317444	55317444	C	T	UTR3	DHCR24	unknown	SNV	-	-	-	0.0288	rs648804	-	0.0325479	-	0.051	-	-	-	Desmosterolosis	-	integument phenotype	Desmosterolosis	ClinVar,
chr19	57426309	57426309	A	G	intergenic	MIMT1,USP29	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,no phenotypic analysis	-,Potential protein deficiency	ICGC,
chr15	23069146	23069146	C	T	intronic	NIPA1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5394458	-	LIRI-JP|1|258|0.00388	-	-	-	Spastic paraplegia, autosomal dominant|Spastic paraplegia with peripheral neuropathy|Autism spectrum disorder|Angelman syndrome|Amyotrophic lateral sclerosis, susceptibility to, association with|Amyotrophic lateral sclerosis  	COSMIC,ICGC,
chr2	130956000	130956000	G	A	UTR5	TUBA3E	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27000526	-	-	-	-	-	-	COSMIC,
chr1	146650266	146650266	C	T	ncRNA_exonic	PDIA3P1	unknown	SNV	-	-	8.121e-06	-	-	-	-	-	-	COSN23019805	-	-	-	-	-	-	COSMIC,COSMIC,
chr4	88131098	88131098	C	T	intronic	KLHL8	unknown	SNV	-	-	-	-	rs536476008	-	0.000199681	-	-	-	-	COCA-CN|1|321|0.00312	-	-	no phenotypic analysis	-	ICGC,
chr8	133364566	133364566	T	A	intronic	KCNQ3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Seizures, benign infantile|Intellectual disability, nonsyndromic|Epilepsy, rolandic without neonatal seizures|Epilepsy, rolandic & benign neonatal convulsions|Epilepsy, idiopathic  |Epilepsy, benign neonatal|Benign familial neonatal convulsions	ICGC,
chrX	5550640	5550640	G	C	intergenic	LOC101928201,NLGN4X	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21257307	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,Potential protein deficiency|Mental retardation|Kallmann syndrome and ichthyosis|Intellectual disability, short stature & hydrocephaly|Intellectual disability, Kallmann syndrome & ichthyosis|Intellectual disability, behavioural difficulties, ichthyosis & hypogonadotrophic hypogonadism|Intellectual disability, autism spectrum disorder & short stature|Developmental delay, hypospadias & ichthyosis|Developmental delay, autism spectrum disorder, micropenis & ichthyosis|Developmental delay  |Autism, association with|Autism and mental retardation|Autism 	COSMIC,ICGC,
chr8	69744943	69744943	A	C	intergenic	C8orf34,LOC100505718	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8860089	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr5	54258108	54258108	C	T	intergenic	LOC102467080,ESM1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6922110	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr6	165948079	165948079	C	T	intronic	PDE10A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	behavior/neurological phenotype	-	ICGC,
chr2	2841416	2841420	ACACT	-	intergenic	MYT1L,LINC01250	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	Schizophrenia, childhood onset  |Schizophrenia  |Intellectual disability, obesity, hyperphagia & behavioural difficulties|Intellectual disability, obesity & hyperactivity|Intellectual disability  |Brain malformations |Autism ,-	ICGC,
chr8	35588294	35588294	A	T	intronic	UNC5D	unknown	SNV	-	-	-	0.0825	rs115370052	-	0.10004	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr8	106813834	106813834	C	A	exonic	ZFPM2	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM387922	-	-	-	-	integument phenotype	Atrial septal defect & gonadal dysgenesis|Diaphragmatic hernia, congenital|Double outlet right ventricle |Gonadal dysgenesis |Reduced activity|Tetralogy of Fallot 	COSMIC,
chr6	27648558	27648558	C	T	intergenic	ZNF184,LINC01012	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr13	29527549	29527549	G	A	intergenic	SLC46A3,MTUS2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr13	105356534	105356534	T	G	intergenic	MIR548AS,DAOA-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr8	129587869	129587869	T	A	intergenic	LINC00824,LINC00977	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9597434	-	OV-AU|1|93|0.01075	-	-	-,-	-,-	COSMIC,ICGC,
chrX	29269369	29269369	A	G	intronic	IL1RAPL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	nervous system phenotype	Mental retardation, X-linked|Mental retardation with dysmorphic features|Mental retardation and autism|Intellectual disability, X-linked with dysmorphism|Intellectual disability, X-linked|Intellectual disability, dysmorphic signs, deafness & behavioural problems|Intellectual disability & behavioural problems|Developmental delay, learning disability & microcephaly|Autism spectrum disorder  |Asperger syndrome	ICGC,
chr12	43071469	43071469	A	T	intergenic	LOC101927058,ADAMTS20	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,integument phenotype	-,-	ICGC,
chr13	74834070	74834070	C	T	intergenic	KLF12,LINC00381	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LINC-JP|1|394|0.00254	-	-	-,-	-,-	ICGC,
chr1	18126195	18126195	C	T	intronic	ACTL8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr5	17766221	17766221	A	G	intergenic	LOC401177,CDH18	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN28030334	-	PRAD-CA|1|308|0.00325	-	-	-,-	-,Anorectal malformation	COSMIC,ICGC,
chr3	146507267	146507267	C	T	intergenic	PLSCR5,ZIC4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,-	ICGC,
chr15	24842354	24842354	G	A	intergenic	PWRN1,NPAP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr12	91482455	91482455	-	TTT	intergenic	KERA,LUM	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	hematopoietic system phenotype,integument phenotype	Cornea plana |Cornea plana 2,Amyotrophic lateral sclerosis |Corneal dystrophy, posterior amorphous|High myopia, association with	ICGC,
chr9	31160063	31160063	C	T	intergenic	LINC01242,ACO1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Schizophrenia	ICGC,
chr21	24068325	24068325	G	A	intergenic	LINC00308,D21S2088E	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	215129386	215129386	C	T	intergenic	CENPF,KCNK2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,mortality/aging	-,-	ICGC,
chr9	79418875	79418875	C	T	intronic	PRUNE2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Schizophrenia	ICGC,
chr15	46272598	46272598	C	A	intergenic	SQRDL,SEMA6D	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5397584	-	LIRI-JP|1|258|0.00388	-	-	-,immune system phenotype	-,Developmental language disorder 	COSMIC,ICGC,
chr1	102656499	102656499	G	A	intergenic	OLFM3,COL11A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Stickler syndrome, type 2|Stickler syndrome|Robin sequence |Osteoarthritis, early-onset|Marshall syndrome|Marshall / Stickler syndrome|Lumbar disc herniation, association with|Fibrochondrogenesis|Deafness  	ICGC,
chr15	97744183	97744183	G	A	intergenic	SPATA8,LOC101927286	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Potential protein deficiency,-	ICGC,
chr20	35324958	35324958	A	G	intronic	NDRG3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	-	ICGC,
chr4	158571878	158571878	C	A	intergenic	LOC340017,FAM198B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5558314	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr20	34589238	34589238	G	A	intronic	CNBD2	unknown	SNV	-	-	-	0.0262	rs865844049	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr12	100781487	100781487	C	T	intronic	SLC17A8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	Deafness, nonsyndromic sensorineural 25|Deafness, nonsyndromic  |Deafness  	ICGC,
chr22	33813761	33813761	G	A	intronic	LARGE	unknown	SNV	-	-	-	6.461e-05	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	mortality/aging	Alpha-dystroglycanopathy |Autism, non-complex|Fukushima congenital muscular dystrophy|Muscular dystrophy, congenital 1D|Walker-Warburg syndrome|Walker-Warburg syndrome.	ICGC,
chr4	181368873	181368873	A	-	intergenic	NONE,LINC00290	unknown	deletion	-	-	-	0.0003	-	-	-	-	-	-	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	ICGC,
chr18	12908514	12908514	G	A	intergenic	PTPN2,SEH1L	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	mortality/aging,mortality/aging	Type 1 diabetes, association with|Decreased expression|Crohn's disease, association with,-	ICGC,
chr12	108468383	108468383	-	ACAT	intergenic	LOC728739,WSCD2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr11	64522879	64522879	G	A	intronic	PYGM	unknown	SNV	-	-	7.312e-05	6.465e-05	rs369256567	8.255e-05	0.000199681	0.0002	-	-	-	EOPC-DE|1|202|0.00495	-	-	-	Hypercholesterolaemia ?|McArdle disease|Potential protein deficiency	ICGC,
chr14	85942736	85942736	C	T	intergenic	LINC00911,FLRT2	unknown	SNV	-	-	-	9.698e-05	rs775815790	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,mortality/aging	-,-	ICGC,
chr7	133469960	133469960	T	A	intronic	EXOC4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging	Meckel-Gruber syndrome|Cervical artery dissection|Autism spectrum disorder  	ICGC,
chr1	21853518	21853518	T	G	intronic	ALPL	unknown	SNV	-	-	-	-	rs201789592	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Odontohypophosphatasia|Low serum alkaline phosphatase, association with.|Hypophosphatasia, association with|Hypophosphatasia without bone deformities|Hypophosphatasia	ICGC,
chr8	115617169	115617169	T	C	intergenic	CSMD3,TRPS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,integument phenotype	Schizophrenia  |Colorectal cancer ,Tricho-rhino-phalangeal syndrome with supernumerary teeth|Tricho-rhino-phalangeal syndrome III|Tricho-rhino-phalangeal syndrome I|Tricho-rhino-phalangeal syndrome|Infantile scoliosis & developmental delay|Femoral neck width, association with|Ambras syndrome	ICGC,
chr8	116926599	116926599	C	A	intergenic	TRPS1,LINC00536	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5107854	-	LINC-JP|1|394|0.00254	-	-	integument phenotype,-	Tricho-rhino-phalangeal syndrome with supernumerary teeth|Tricho-rhino-phalangeal syndrome III|Tricho-rhino-phalangeal syndrome I|Tricho-rhino-phalangeal syndrome|Infantile scoliosis & developmental delay|Femoral neck width, association with|Ambras syndrome,-	COSMIC,ICGC,
chrX	145121266	145121266	-	T	intergenic	MIR891A,CXorf51A	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	ICGC,
chr9	128154100	128154100	C	G	intergenic	GAPVD1,MAPKAP1	unknown	SNV	-	-	-	0.5906	rs3122934	-	0.63758	-	0.558	-	-	LAML-KR|1|205|0.00488	-	-	-,mortality/aging	-,Breast cancer, non-BRCA1/BRCA2 related	ICGC,
chr12	107642675	107642675	G	A	intergenic	CRY1,BTBD11	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	-,-	ICGC,
chr17	47041742	47041742	T	C	exonic	GIP	nonsynonymous	SNV	0.54	0.992	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	Increased bioactivity	ICGC,
chr8	108356686	108356686	C	A	intronic	ANGPT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BOCA-UK|1|130|0.00769	-	-	mortality/aging	Stroke, reduced risk, association with	ICGC,
chr16	69874554	69874554	G	A	intronic	WWP2	unknown	SNV	-	-	-	3.228e-05	rs552958291	-	0.000199681	-	-	COSN6092864	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chrX	57021144	57021144	A	G	exonic	SPIN3	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM4110427	STAD|1|395|0.00253,STES|1|395|0.00253	STAD-US|1|289|0.00346	-	-	-	-	COSMIC,TCGA,ICGC,
chr19	6699671	6699672	GA	-	intronic	C3	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|2|67|0.02985	-	-	mortality/aging	Haemolytic uraemic syndrome, atypical.|Macular degeneration, age related, protection against |Macular degeneration, age-related|Macular degeneration, age-related, association with|Macular degenerationm age-related, association with|Systemic vasculitis, association with|Temporal lobe epilepsy & febrile seizures, protection, assoc with|Thrombotic microangiopathy  |Haemolytic uraemic syndrome, atypical|Haemolytic uraemic syndrome|Age-related macular degeneration, association with|Age-related macular degeneration, exudative, association with|Autism|C3 glomerulonephritis|Complement C3 deficiency|Dense deposit disease |Dense deposit disease, increased risk|Focal and segmental glomerulosclerosis, association with	ICGC,
chr3	90218414	90218414	T	G	intergenic	EPHA3,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20308416	-	PAEN-AU|1|52|0.01923	-	-	mortality/aging,-	Oligozoospermia|Schizophrenia    |Sertoli-cell-only syndrome,-	COSMIC,ICGC,
chr5	166873991	166873991	C	T	intronic	TENM2	unknown	SNV	-	-	-	0.0217	rs9284974	-	0.0279553	-	0.029	COSN7909810	-	PACA-AU|1|391|0.00256	-	-	-	-	COSMIC,ICGC,
chr2	16890478	16890478	T	A	intergenic	FAM49A,RAD51AP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr14	107259432	107259432	A	G	intergenic	LINC00221,NONE	unknown	SNV	-	-	4.106e-06	-	rs777298906	8.432e-06	-	-	-	COSN25644536	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	COSMIC,ICGC,
chr15	45528053	45528053	C	T	intergenic	SHF,LOC101928414	unknown	SNV	-	-	-	3.228e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr17	8265333	8265333	C	T	intergenic	LOC100128288,KRBA2	unknown	SNV	-	-	-	0.0222	rs73235221	-	0.0205671	-	0.029	COSN8247067	-	-	-	-	-,-	-,-	COSMIC,
chr7	38338395	38338395	C	T	intergenic	TARP,TRG-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr6	121905701	121905701	-	TAAATCA	intergenic	GJA1,HSF2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype,mortality/aging	Sudden infant death syndrome |Oculodentodigital dysplasia with primary lymphoedema|Oculodentodigital dysplasia|Neurologic dysfunction|Heart malformations|Hallerman-Streiff/ODDD syndrome|Ectodermal & oculodentodigital dysplasia with skin hyperkeratosis|Attenuated phenotype in glaucoma |Cleft lip in oculodentodigital dysplasia.|Craniometaphyseal dysplasia|Deafness|Deafness, autosomal recessive,Idiopathic azoospermia	ICGC,
chr7	96160018	96160018	C	T	intergenic	C7orf76,LOC100506136	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr8	145113659	145113659	A	G	intronic	OPLAH	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-JP|1|585|0.00171	-	-	-	5-oxoprolinase deficiency	ICGC,
chr8	134144208	134144208	G	T	intronic	TG	unknown	SNV	-	-	2.031e-05	-	rs778272932	3.295e-05	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	hematopoietic system phenotype	Thyroid dyshormonogenesis|Thyroid cancer, increased risk, association with|Thyroglobulin retention & hypothyroidism|Potential protein deficiency|Hypothyroidism|Goitre, simple|Goitre, dyshormonogenetic|Autoimmune thyroid disease, association with|Goitre with hypothyroidism|Goitre with hypothyroidism.|Goitre, adenomatous|Goitre, congenital	ICGC,
chr14	24846062	24846062	C	T	exonic	NFATC4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSM4484415	-	-	-	-	mortality/aging	Endurance-related phenotypes, association with|Cardiac hypertrophy, protection, association 	COSMIC,COSMIC,COSMIC,COSMIC,
chr18	22902496	22902496	A	T	intronic	ZNF521	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	skeleton phenotype	-	ICGC,
chr3	137044771	137044771	G	A	intergenic	IL20RB,SOX14	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype,no phenotypic analysis	Autism,-	ICGC,
chr2	4952050	4952050	A	G	intergenic	LINC01249,LINC01248	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21479185	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr3	53724010	53724010	A	T	intronic	CACNA1D	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7700762	-	PACA-AU|1|391|0.00256	-	-	mortality/aging	Primary aldosteronism|Potential protein deficiency|Deafness and brachycardia|Autism	COSMIC,ICGC,
chr5	163323626	163323626	C	G	intergenic	MAT2B,LOC101927835	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-UK|1|141|0.00709	-	-	-,-	-,-	ICGC,
chr19	15288295	15288295	G	T	intronic	NOTCH3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	integument phenotype	Ischemic stroke, protection against|Migraine with aura and white matter abnormalities|Myofibromatosis, infantile|Periodontal disease, association with|Potential protein deficiency|Pulmonary arterial hypertension|Spontaneous cerebellar haemorrhage.|White matter lesions |Ischemic stroke|Colorectal cancer |Alzheimer's disease |Amyotrophic lateral sclerosis and frontotemporal lobar degeneration with CADASIL|Autism|Balo concentric sclerosis|CADASIL|CADASIL with haemorrhagic strokes|CADASIL with intracerebral haemorrhage |CADASIL with varicose veins	ICGC,
chr4	129287939	129287939	C	T	intergenic	PGRMC2,JADE1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr10	53280025	53280028	TTAT	-	intronic	PRKG1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	mortality/aging	Thoracic aortic aneurysms and dissections	ICGC,
chr11	40854875	40854875	G	T	intronic	LRRC4C	unknown	SNV	-	-	-	-	rs558323876	-	0.000399361	-	-	COSN25695657	-	EOPC-DE|1|202|0.00495	-	-	-	-	COSMIC,ICGC,
chr2	10662199	10662199	G	A	intergenic	LOC101929715,NOL10	unknown	SNV	-	-	-	0.0033	rs565299846	-	0.00459265	-	0.007	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr21	23048966	23048966	-	A	intergenic	NCAM2,LINC00317	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	taste/olfaction phenotype,-	-,-	ICGC,
chr3	49077114	49077114	G	A	intronic	QRICH1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr1	221816254	221816254	G	A	intergenic	C1orf140,DUSP10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-,hematopoietic system phenotype	-,-	ICGC,
chr10	57892052	57892052	A	T	intergenic	MTRNR2L5,ZWINT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-,-	-,-	ICGC,
chr1	247273563	247273563	C	T	UTR3	C1orf229	unknown	SNV	-	-	-	3.232e-05	-	-	-	-	-	COSN6525029	-	PBCA-DE|1|499|0.00200	-	-	-	-	COSMIC,ICGC,
chr18	21026844	21026844	C	A	intergenic	TMEM241,RIOK3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr6	42730523	42730523	T	G	intergenic	TBCC,GLTSCR1L	unknown	SNV	-	-	-	0.3837	rs10948045	-	0.409744	-	0.580	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,-	ICGC,
chr1	220291713	220291713	C	T	ncRNA_intronic	RNU5F-1	unknown	SNV	-	-	-	0.0698	rs78379784	-	0.0676917	-	0.051	-	-	LUSC-KR|1|170|0.00588,PBCA-DE|1|499|0.00200	-	-	-	-	ICGC,
chr1	150418662	150418662	T	G	intronic	RPRD2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-	-	ICGC,
chr1	244033567	244033567	G	A	intergenic	AKT3,LOC339529	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15840960	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging,-	Microcephaly, abnormalities of the corpus callosum & seizures |Microcephaly & abnormalities of the corpus callosum |Microcephaly |Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome|Megalencephaly-capillary malformation syndrome|Megalencephaly-capillary malformation / megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome|Macrocephaly, megalencephaly & developmental delay,-	COSMIC,ICGC,
chr8	129228652	129228652	C	T	intergenic	MIR1208,LINC00824	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	ICGC,
chr6	78706516	78706516	T	C	intergenic	MEI4,IRAK1BP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,no phenotypic analysis	-,-	ICGC,
chr8	97578435	97578435	G	A	intronic	SDC2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2300301	-	LIRI-JP|1|258|0.00388	-	-	-	Systemic sclerosis, protection against, association with	COSMIC,ICGC,
chr11	64672935	64672935	C	T	intronic	ATG2A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr8	35700000	35700000	A	G	intergenic	UNC5D,KCNU1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25858602	-	EOPC-DE|1|202|0.00495	-	-	-,reproductive system phenotype	-,Schizophrenia  	COSMIC,ICGC,
chr16	9511652	9511652	G	A	intergenic	MIR548X,MIR7641-2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr6	87100848	87100848	G	A	intergenic	SNHG5,HTR1E	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN18809490	-	-	-	-	-,-	-,-	COSMIC,
chr14	75330084	75330084	G	T	exonic	PROX2	nonsynonymous	SNV	0.0	0.525	-	-	-	-	-	-	-	COSM6294530	-	LICA-CN|1|402|0.00249	-	-	-	Intellectual disability  	COSMIC,COSMIC,ICGC,
chr6	157691456	157691456	-	TCCACCACCATC	intergenic	ARID1B,TMEM242	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	Schizophrenia|Nicolaides-Baraitser syndrome|Intellectual disability, plantar fat pads & facial dysmorphism|Intellectual disability, corpus callosum abnormalities, speech impairment & autism|Intellectual disability & speech impairment|Intellectual disability & agenesis of corpus callossum|Intellectual disability  |Developmental delay, dysmorphic features, dysgenesis of the corpus callosum, limb anomalies & genital hypoplasia|Coffin-Siris syndrome|Autism?|Autism spectrum disorder|Autism,-	ICGC,
chr8	83563511	83563511	G	T	intergenic	SNX16,LINC01419	unknown	SNV	-	-	-	3.241e-05	rs750765800	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	ICGC,
chr10	92332503	92332503	G	A	intergenic	LOC101926942,HTR7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Receptor variant	ICGC,
chr11	48760329	48760329	G	T	intergenic	OR4A47,TRIM49B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr1	55798043	55798043	G	A	intergenic	MIR4422,PPAP2B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,-	ICGC,
chr15	24533272	24533272	C	T	intergenic	PWRN2,PWRN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr8	30816086	30816086	G	A	intergenic	TEX15,PURG	unknown	SNV	-	-	-	0.0002	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	reproductive system phenotype,-	Schizophrenia,-	ICGC,
chr12	48367971	48367971	G	T	exonic	COL2A1	nonsynonymous	SNV	0.002	0.557	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	mortality/aging	Spondyloepiphyseal dysplasia|Spondyloepimetaphyseal dysplasia, Strudwick|Spondyloepimetaphyseal dysplasia congenita|Spondylarthopathy with brachydactyly|Spondylarthopathy|Short-limbed dwarfism|Rhegmatogenous retinal detachment|Platyspondylic skeletal dysplasia, Torrance|Spondyloepiphyseal dysplasia / COL2A1-related dysplasia|Spondyloepiphyseal dysplasia congenita|Wagner's vitreoretinal degeneration|Vitreoretinopathy with phalangeal epiphyseal dysplasia|Stickler syndrome, type 1|Stickler syndrome|Stickler / Wagner syndrome|Spondyloperipheral dysplasia|Spondylometaphyseal dysplasia, Algerian type|Spondyloepiphyseal dysplasia.|Otospondylomegaepiphyseal dysplasia|Osteochondrodysplasia|Deafness  |Czech dysplasia|Avascular necrosis of the femur head|Arthroophthalmopathy|Arthritis, isolated.|Arthritis, isolated|Achondrogenesis II-hypochondrogenesis|Achondrogenesis 2|Dysspondyloenchondromatosis|Epiphyseal dysplasia|Osteoarthritis, early progressive, with spondyloepiphyseal dysplasia|Osteoarthritis|Multiple epiphyseal dysplasia|Legg-Calve-Perthes-like disease|Kniest dysplasia|Hypochondroplasia|Hypochondrogenesis|Hip dysplasia and spinal osteochondritis	ICGC,
chr6	19333580	19333580	G	A	intergenic	LOC101928519,ID4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,-	ICGC,
chr10	119714955	119714955	C	G	intergenic	EMX2,RAB11FIP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	Schizencephaly,-	ICGC,
chr20	51652589	51652589	G	C	intronic	TSHZ2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	mortality/aging	Schizophrenia	ICGC,
chr9	15878	15878	C	T	intronic	WASH1	unknown	SNV	-	-	5.012e-06	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr5	39635395	39635395	G	A	intergenic	LOC101926940,LINC00603	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	65848660	65848660	G	A	intergenic	SPRED2,MIR4778	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN10005108	-	RECA-EU|1|422|0.00237	-	-	hematopoietic system phenotype,-	Childhood apraxia of speech,-	COSMIC,ICGC,
chr2	177036395	177036395	T	C	exonic	HOXD3	nonsynonymous	SNV	0.0	1.0	-	-	-	-	-	-	-	-	-	GACA-JP|1|585|0.00171	-	-	mortality/aging	-	ICGC,
chr21	10835791	10835791	G	A	intergenic	TEKT4P2,TPTE	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26073943	-	ESAD-UK|1|301|0.00332,MELA-AU|1|183|0.00546	-	-	-,-	-,Potential protein deficiency	COSMIC,ICGC,
chr3	191294988	191294988	G	A	ncRNA_intronic	LINCR-0002	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr4	80235227	80235227	-	A	intergenic	LINC01088,NAA11	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	ICGC,
chr3	2248186	2248186	-	A	intronic	CNTN4	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	nervous system phenotype	Spinocerebellar ataxia 16 |Features of 3p deletion syndrome|Autism spectrum disorder |Autism	ICGC,
chr1	6246714	6246714	T	A	UTR3	RPL22	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26560527	-	LICA-CN|1|402|0.00249	-	-	hematopoietic system phenotype	-	COSMIC,ICGC,
chr5	25616552	25616552	G	C	intergenic	LOC340107,CDH9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	ICGC,
chr15	48109496	48109496	A	C	ncRNA_intronic	LOC101928442	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr6	267503	267503	G	C	intergenic	LINC00266-3,DUSP22	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,Cleft palate, hearing impairment, microcephaly, micrognathia and psychomotor retardation	ICGC,
chr16	666344	666344	-	GTTA	intronic	RAB40C	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	-	ICGC,
chr12	90383021	90383021	G	A	intergenic	LINC00936,LINC00615	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr12	119544111	119544111	C	T	intronic	SRRM4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr14	39996887	39996887	C	A	intergenic	FBXO33,LOC644919	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr2	878678	878678	-	GTGGATGGAGGTAATG	intergenic	LINC01115,LOC101060385	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr16	15561178	15561178	G	A	intronic	C16orf45	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr5	151919998	151919998	C	T	intergenic	NMUR2,LOC101927134	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	integument phenotype,-	-,-	ICGC,
chr14	51552798	51552798	C	A	intronic	TRIM9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr18	10112883	10112883	G	T	intergenic	VAPA,LINC01254	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1730804	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr1	242609930	242609930	T	C	intronic	PLD5	unknown	SNV	-	-	-	9.682e-05	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr3	164124297	164124297	C	G	intergenic	LINC01192,SI	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25205226	-	MALY-DE|1|241|0.00415	-	-	-,-	-,Sucrase isomaltase deficiency	COSMIC,ICGC,
chr11	98497089	98497089	G	C	intergenic	MIR7976,CNTN5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20706846	-	BRCA-UK|1|141|0.00709,BRCA-EU|1|569|0.00176	-	-	-,behavior/neurological phenotype	-,-	COSMIC,ICGC,
chr20	43093217	43093217	C	G	intronic	C20orf62	unknown	SNV	-	-	-	6.462e-05	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr16	240106	240106	G	A	exonic	LUC7L	nonsynonymous	SNV	0.004	1.0	2.872e-05	6.472e-05	rs779353400	3.426e-05	-	-	-	COSM1588343	UCEC|1|248|0.00403	UCEC-US|1|250|0.00400	-	-	normal phenotype	Colorectal cancer 	COSMIC,COSMIC,TCGA,ICGC,
chr8	27659659	27659659	T	C	intronic	ESCO2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332,PBCA-US|1|186|0.00538	-	-	mortality/aging	Schizophrenia|SC Phocomelia|Roberts syndrome	ICGC,
chr4	55299944	55299944	A	G	intergenic	PDGFRA,KIT	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9044919	-	OV-AU|1|93|0.01075	-	-	integument phenotype,integument phenotype	Vitiligo vulgaris |Neuroectodermal tumours, association with|Imatinib resistance in hypereosinophilic syndrome|Hypereosinophilic syndrome|Gastrointestinal stromal tumour|Gastrointestinal stromal & other tumours |Diaphragmatic hernia, congenital |Cleft palate, isolated,Mastocytosis with haematologic disorder|Mastocytosis, diffuse cutaneous|Mastocytosis, diffuse cutaneous.|Piebaldism|Piebaldism and auburn hair|Piebaldism with cafe-au-lait macules & intertriginous freckling|Mastocytosis predisposition|Mastocytosis|Gastrointestinal tumour, stromal.|Gastrointestinal tumour, stromal|Gastrointestinal stromal tumour & mastocytosis|Gastrointestinal stromal tumors and urticaria pigmentosa|Altered miRNA:target gene mRNA duplex conformation |Acral melanoma, increased risk, association with|Achalasia, association with	COSMIC,ICGC,
chrX	141196286	141196286	T	C	intergenic	MAGEC1,MAGEC2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-,-	Prostate cancer, predisposition to,-	ICGC,
chr4	65509403	65509403	T	C	intergenic	TECRL,LOC401134	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr17	273043	273043	-	CA	intergenic	C17orf97,FAM101B	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,normal phenotype	-,-	ICGC,
chr8	90194996	90194996	C	T	intergenic	MMP16,RIPK2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16103255	-	PACA-CA|1|268|0.00373	-	-	mortality/aging,hematopoietic system phenotype	-,Autism spectrum disorder	COSMIC,ICGC,
chr6	55259778	55259778	C	G	intronic	GFRAL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr7	120397042	120397042	A	G	intergenic	KCND2,TSPAN12	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,vision/eye phenotype	Epilepsy, temporal lobe,Exudative vitreoretinopathy|Persistent hyperplastic primary vitreous & autism spectrum disord	ICGC,
chr13	47317555	47317555	G	C	UTR3	LRCH1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17219429	-	PACA-CA|1|268|0.00373	-	-	-	Knee osteoarthritis, association with	COSMIC,ICGC,
chr3	179191782	179191782	G	C	intergenic	GNB4,ACTL6A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1933914	-	LIRI-JP|1|258|0.00388	-	-	-,-	Charcot-Marie-Tooth disease, dominant intermediate,-	COSMIC,ICGC,
chrX	121033694	121033694	T	G	intergenic	GLUD2,GRIA3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23205663	-	MALY-DE|1|241|0.00415	-	-	-,integument phenotype	Parkinson disease, earlier onset, association with,Mental retardation, X-linked|Intellectual disability, X-linked with facial dysmorphism|Intellectual disability, X-linked|Autism spectrum disorder	COSMIC,ICGC,
chrX	53778090	53778090	C	T	intergenic	HUWE1,PHF8	unknown	SNV	-	-	-	0.4779	rs12384199	-	0.428079	-	0.312	-	-	LAML-KR|1|205|0.00488	-	-	mortality/aging,-	Schizophrenia|Mental retardation, X-linked |Intellectual disability, X-linked|Intellectual disability, nonsyndromic|Intellectual disability, growth retardation, minimal speech, rigid gait & behavioural problems|Congenital heart disease |Autism,Autism|X-linked mental retardation & cleft lip/palate	ICGC,
chr11	98790155	98790155	G	T	intergenic	MIR7976,CNTN5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23211802	-	MALY-DE|1|241|0.00415	-	-	-,behavior/neurological phenotype	-,-	COSMIC,ICGC,
chr6	139888256	139888256	T	C	intergenic	LOC645434,LOC100132735	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	103907617	103907617	A	C	intergenic	TMEM182,LOC100287010	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|2|301|0.00664	-	-	-,-	-,-	ICGC,
chr1	225513200	225513200	-	A	intronic	DNAH14	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|2|67|0.02985	-	-	-	Potential protein deficiency	ICGC,
chr4	163525958	163525958	G	A	intergenic	FSTL5,NAF1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Schizophrenia  |Rolandic epilepsy ,-	ICGC,
chr21	18653418	18653418	A	T	intergenic	LINC00478,C21orf37	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr21	26061691	26061691	C	T	intergenic	LOC101927869,LOC339622	unknown	SNV	-	-	-	3.234e-05	rs572443281	-	0.000199681	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr11	89103507	89103507	C	T	intronic	NOX4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging	-	ICGC,
chr10	82500870	82500870	G	T	intergenic	SH2D4B,NRG3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BOCA-UK|1|130|0.00769	-	-	-,integument phenotype	-,Schizophrenia, association with |Increased ventrolateral PFC activation|Hirschsprung disease  	ICGC,
chr15	97840662	97840662	A	T	intergenic	SPATA8,LOC101927286	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Potential protein deficiency,-	ICGC,
chr7	96864790	96864790	G	A	intergenic	ACN9,TAC1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	Long QT syndrome, drug-induced, increased risk,-	ICGC,
chr9	9207818	9207818	T	C	intronic	PTPRD	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	integument phenotype	Restless legs syndrome, association with|Ewing sarcoma	ICGC,
chr9	73759027	73759027	T	C	intergenic	TRPM3,TMEM2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17555283	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,-	Schizophrenia  |Mental retardation,Hepatitis B, chronic, association with	COSMIC,ICGC,
chr8	32616873	32616873	A	T	exonic	NRG1	nonsynonymous	SNV	0.067	0.996	-	-	-	-	-	-	-	COSM3996030	KIPAN|1|799|0.00125,KIRP|1|282|0.00355	KIRP-US|1|165|0.00606	-	-	integument phenotype	Sudden cardiac death, association with|Schizophrenia, association with  |Schizophrenia in African Americans, association with|Prepulse inhibition, association with|Perceptual aberration of schizotypal personality, association with|Increased lateral ventricle volume in schizophrenia|Hirschsprung disease|Developmental delay, hypotonia & microcephaly|Alzheimers disease, association with	COSMIC,COSMIC,TCGA,ICGC,
chr4	149938818	149938818	T	G	intergenic	NR3C2,DCLK2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22228437	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging,mortality/aging	Myocardial infarction, increased risk, association with|Neonatal stress, association with|Pseudohypoaldosteronism 1|Pseudohypoaldosteronism type 1, autosomal dominant|Reduced expression|Reduced expression, association with|Increased BMI and LDL-cholesterol, association with|Increased blood pressure, association with|Increased amygdala reactivity, with prior childhood emotional neglect, association with.|Autism |Blood pressure variation in response to potassium, association with|Cortisol awakening response in women, association with|Fibromyalgia|Higher ADHD symptom dimensions, association with|Hypertension, early onset exacerbated in pregnancy,-	COSMIC,ICGC,
chr9	138401234	138401234	G	A	intergenic	LOC101928525,LCN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr10	99125899	99125899	G	A	exonic	RRP12	synonymous	SNV	-	-	4.556e-05	-	rs755115862	7.432e-05	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr7	9602867	9602867	G	A	intergenic	NXPH1,PER4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	mortality/aging,-	Breast cancer, increased risk  ,-	ICGC,
chr5	58973026	58973026	A	G	intronic	PDE4D	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Psychomotor retardation, coarse facies & ocular anomalies|Intellectual disability syndrome with low body mass index & facial features|Acrodysostosis	ICGC,
chr4	187862572	187862572	T	C	intergenic	FAT1,LOC339975	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15076687	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,-	Autism,-	COSMIC,ICGC,
chr6	10800416	10800416	C	T	intronic	MAK	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	reproductive system phenotype	Retinitis pigmentosa	ICGC,
chr10	124286654	124286654	C	T	intergenic	HTRA1,DMBT1	unknown	SNV	-	-	-	6.46e-05	-	-	-	-	-	-	-	SKCA-BR|2|100|0.02000,MELA-AU|1|183|0.00546	-	-	vision/eye phenotype,mortality/aging	Spinal disc degeneration, in Japanese women, association with|Polypoidal choroidal vasculopathy, association with.|Polypoidal choroidal vasculopathy, and neovascular age-related macular degeneration, association with.|Pattern dystrophy, association with.|Mmacular degeneration, age-related, neovascular|Macular degeneration, association with|Macular degeneration, age related, neovascular, reduced risk|Macular degeneration, age related, neovascular, association with|Elevated C-reactive protein levels|CARASIL without alopecia|CARASIL,Crohn's disease, increased risk, association with|Breast cancer, increased risk, association with	ICGC,
chr7	126371011	126371011	G	T	intronic	GRM8	unknown	SNV	-	-	-	0.3534	rs10269099	-	0.278954	-	0.341	-	-	ESAD-UK|1|301|0.00332	-	-	behavior/neurological phenotype	Attention deficit hyperactivity disorder|Autism spectrum disorder  	ICGC,
chr18	8417238	8417238	C	T	intergenic	PTPRM,RAB12	unknown	SNV	-	-	-	9.689e-05	-	-	-	-	-	COSN25434720	-	MALY-DE|1|241|0.00415	-	-	cardiovascular system phenotype,-	Potential protein deficiency,-	COSMIC,ICGC,
chrX	121946817	121946828	GCATTTTATGCT	-	intergenic	GLUD2,GRIA3	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	PRAD-UK|1|140|0.00714	-	-	-,integument phenotype	Parkinson disease, earlier onset, association with,Mental retardation, X-linked|Intellectual disability, X-linked with facial dysmorphism|Intellectual disability, X-linked|Autism spectrum disorder	ICGC,
chr1	6890058	6890058	G	A	intronic	CAMTA1	unknown	SNV	-	-	-	3.291e-05	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	Ataxia, non-progressive congenital|Developmental delay & learning disability|Impaired episodic memory performance, association with	ICGC,
chr20	45605683	45605683	G	A	intronic	EYA2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr17	52052028	52052028	A	-	intergenic	KIF2B,TOM1L1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr17	8697977	8697977	G	C	intergenic	SPDYE4,MFSD6L	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25428776	-	MALY-DE|1|241|0.00415	-	-	-,-	-,Paediatric cataract 	COSMIC,ICGC,
chr11	91250807	91250807	C	T	intergenic	DISC1FP1,FAT3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,vision/eye phenotype	-,Autism spectrum disorder	ICGC,
chr15	96316143	96316143	T	G	intergenic	LINC00924,NR2F2-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9641941	-	RECA-EU|1|422|0.00237	-	-	-,-	-,-	COSMIC,ICGC,
chr4	187284768	187284768	C	T	ncRNA_intronic	F11-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr7	34667974	34667974	G	A	ncRNA_intronic	NPSR1-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr16	32638189	32638189	A	T	intergenic	LOC390705,TP53TG3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr2	185367233	185367233	G	C	intergenic	NUP35,ZNF804A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Neurodevelopmental disease|Reduced cortical gray matter thickness|Schizophrenia and bipolar disorder, association with|Schizophrenia, association with  	ICGC,
chr11	3566853	3566853	T	G	intergenic	LOC650368,TRPC2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22304454	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	-,hematopoietic system phenotype	-,-	COSMIC,COSMIC,ICGC,
chr21	23103971	23103971	G	T	ncRNA_intronic	LINC00317	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-	-	ICGC,
chr1	101486069	101486069	A	G	intronic	DPH5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26923560	-	UTCA-FR|1|20|0.05000	-	-	-	-	COSMIC,COSMIC,COSMIC,COSMIC,ICGC,
chr18	23238764	23238764	T	A	intergenic	ZNF521,SS18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	skeleton phenotype,mortality/aging	-,-	ICGC,
chr11	45204386	45204386	C	A	intronic	PRDM11	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-	-	ICGC,
chr13	72042831	72042831	A	C	intronic	DACH1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25646099	-	MALY-DE|1|241|0.00415	-	-	mortality/aging	Renal hypodysplasia	COSMIC,ICGC,
chr6	6420528	6420528	G	A	ncRNA_intronic	LY86-AS1	unknown	SNV	-	-	-	3.23e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr16	562691	562691	A	T	intronic	RAB11FIP3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr1	76737256	76737256	G	A	intronic	ST6GALNAC3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr12	112533465	112533465	C	T	intronic	NAA25	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr8	57253506	57253506	G	A	intergenic	SDR16C5,SDR16C6P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr19	9087678	9087678	C	T	exonic	MUC16	synonymous	SNV	-	-	1.219e-05	-	rs757994447	8.279e-06	-	-	-	COSM3797761	BLCA|1|396|0.00253	BLCA-US|1|133|0.00752	-	-	-	-	COSMIC,COSMIC,TCGA,ICGC,
chr9	118950375	118950375	A	G	exonic	PAPPA	nonsynonymous	SNV	0.926	0.007	-	-	-	-	-	-	-	-	BLCA|1|396|0.00253	-	-	-	skeleton phenotype	-	TCGA,
chr9	106630370	106630370	G	A	intergenic	LOC101928496,LOC101928523	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	156319012	156319012	G	A	intergenic	PPP1R2P3,TIMD4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,hematopoietic system phenotype	-,-	ICGC,
chr6	131099951	131099951	C	G	intergenic	TMEM200A,SMLR1	unknown	SNV	-	-	-	0.1371	rs6937306	-	0.117212	-	0.109	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr1	116049244	116049244	T	-	intergenic	NGF,VANGL1	unknown	deletion	-	-	-	0.0013	rs536490351	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	integument phenotype,mortality/aging	Sensory and autonomic neuropathy  |Phenotype study|Loss of pain perception|Anxiety-related traits, gender-dependent, association with|Alzheimer disease, late-onset, and mild cognitive impairment, association with.,Neural tube defects	ICGC,
chr3	135371398	135371398	C	T	intergenic	EPHB1,PPP2R3A	unknown	SNV	-	-	-	3.228e-05	-	-	-	-	-	COSN16820840	-	PACA-CA|1|268|0.00373	-	-	vision/eye phenotype,-	-,-	COSMIC,ICGC,
chr18	63052562	63052562	-	GTGTGTGTGTGT	intergenic	LOC284294,CDH7	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr20	50841296	50841297	TA	-	intergenic	ZFP64,LOC101927700	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr20	32220788	32220788	C	T	intronic	CBFA2T2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5968982	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging	Autism spectrum disorder	COSMIC,ICGC,
chr5	178392949	178392949	A	G	exonic	ZNF454	nonsynonymous	SNV	0.183	0.714	1.78e-05	-	rs746819974	8.809e-06	-	-	-	COSM41492	COAD|1|367|0.00272,COADREAD|1|489|0.00204	-	-	-	-	-	COSMIC,TCGA,
chrX	21632703	21632703	-	A	intronic	CNKSR2	unknown	insertion	-	-	-	0.0902	rs11372410	-	0.115497	-	0.007	-	-	PBCA-DE|2|499|0.00401	-	-	-	Intellectual disability, X-linked non-syndromic	ICGC,
chr16	53433713	53433713	G	A	intergenic	LOC102723373,RBL2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,integument phenotype	-,-	ICGC,
chr18	75028483	75028483	G	A	intergenic	GALR1,LINC01029	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	behavior/neurological phenotype,-	Growth hormone insufficiency,-	ICGC,
chr14	28272872	28272872	G	A	intergenic	LINC00645,FOXG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,West syndrome |Rett-like syndrome|Rett syndrome|Refractory epilepsy & intellectual impairment|Microcephaly, mental retardation & thin genu of corpus callosum|Mental retardation, speech impairment & epilepsy|Mental retardation & speech impairment|Mental retardation & postnatal microcephaly|Mental retardation & callosum abnormalities|Mental retardation|Infantile spasms|Hemifacial microsomia|Generalized dystonia, athetosis and parkinsonism|Developmental delay, microcephaly & hypoplasia of the corpus callosum|Developmental delay, hypotonia, microcephaly & infantile spasms|Developmental delay & slow head growth|Agenesis of corpus callosum	ICGC,
chr5	167304524	167304524	G	T	intronic	TENM2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9418855	-	OV-AU|1|93|0.01075	-	-	-	-	COSMIC,ICGC,
chr8	76902296	76902296	T	A	intergenic	HNF4G,LINC01111	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	respiratory system phenotype,-	-,-	ICGC,
chr5	116375919	116375919	-	TATTTTATTTT	intergenic	LOC102467223,LINC00992	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|4|67|0.05970	-	-	-,-	-,-	ICGC,
chrX	151594285	151594285	T	C	intronic	GABRA3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8569957	-	MALY-DE|1|241|0.00415	-	-	behavior/neurological phenotype	Decreased expression	COSMIC,ICGC,
chr6	65578894	65578894	C	A	intronic	EYS	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	Cone-rod dystrophy, autosomal recessive.|Leber congenital amaurosis|Retinitis pigmentosa|Retinitis pigmentosa, autosomal recessive |Retinitis pigmentosa, autosomal recessive/Leber congenital amaurosis	ICGC,
chr13	102425761	102425761	T	-	intronic	FGF14	unknown	deletion	-	-	-	0.0152	rs373532957	-	-	-	-	-	-	COCA-CN|1|321|0.00312,BTCA-SG|2|71|0.02817	-	-	behavior/neurological phenotype	Cerebral ataxia, autosomal dominant	ICGC,
chr12	63778292	63778292	G	T	intergenic	AVPR1A,DPY19L2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	hematopoietic system phenotype,reproductive system phenotype	Pair-bonding behaviour, association with|Lower altruistic behaviour in children, association with|Increased blood pressure, association with|Drug use disorder diagnosis, association with|Autism, association with,Globozoospermia	ICGC,
chr21	10999019	10999019	T	A	intergenic	TPTE,BAGE2	unknown	SNV	-	-	-	0.0073	rs868635886	-	-	-	0.014	-	-	PBCA-US|1|186|0.00538	-	-	-,-	Potential protein deficiency,-	ICGC,
chr1	113771284	113771284	G	C	intergenic	LOC643441,MAGI3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	-,-	-,-	ICGC,
chrX	42809438	42809438	C	T	intergenic	PPP1R2P9,LOC101927501	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr15	61316848	61316848	C	T	intronic	RORA	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7050103	-	PACA-AU|1|391|0.00256	-	-	integument phenotype	Obesity	COSMIC,ICGC,
chr7	37700619	37700619	A	-	intergenic	ELMO1,GPR141	unknown	deletion	-	-	-	0.0006	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332,MELA-AU|1|183|0.00546	-	-	reproductive system phenotype,-	-,-	ICGC,
chr4	138284892	138284892	-	AACA	intergenic	LINC00613,PCDH18	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|2|67|0.02985	-	-	-,-	-,Intellectual disability  	ICGC,
chr4	43122766	43122766	C	A	intergenic	GRXCR1,KCTD8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	behavior/neurological phenotype,-	Hearing impairment, nonsyndromic, autosomal recessive,-	ICGC,
chr16	62332091	62332091	G	A	intergenic	CDH8,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|4|183|0.02186	-	-	integument phenotype,-	Learning disability  |Autism & learning disability ,-	ICGC,
chr14	77304305	77304305	G	C	exonic	LRRC74	nonsynonymous	SNV	0.614	0.001	-	-	-	-	-	-	-	COSM433395	BRCA|1|982|0.00102,LUAD|1|543|0.00184	BRCA-US|1|955|0.00105	-	-	-	-	COSMIC,TCGA,ICGC,
chr19	43773238	43773238	C	A	intronic	PSG9	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20322632	-	PAEN-AU|1|52|0.01923	-	-	-	-	COSMIC,ICGC,
chr14	77793767	77793767	G	T	intronic	GSTZ1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21339028	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging	Altered enzyme activity|Bladder cancer, increased risk	COSMIC,ICGC,
chr1	88235764	88235764	T	C	intergenic	LINC01364,PKN2-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15156616	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr4	31771609	31771609	G	A	intergenic	PCDH7,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	ICGC,
chr15	80310550	80310550	C	A	intergenic	BCL2A1,ZFAND6	unknown	SNV	-	-	-	0.0407	rs149078395	-	0.119409	-	0.058	-	-	LAML-KR|2|205|0.00976	-	-	integument phenotype,-	Colorectal cancer, increased risk, association with,-	ICGC,
chr7	98489502	98489502	A	G	intronic	TRRAP	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22190984	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging	Schizophrenia  |Li-Fraumeni syndrome with brain tumours|Autism	COSMIC,ICGC,
chr6	57143612	57143612	G	T	intergenic	LOC100506188,PRIM2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-,-	-,Potential protein deficiency	ICGC,
chr13	97154189	97154189	T	C	intronic	HS6ST3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7427764	-	-	-	-	-	-	COSMIC,
chr16	53169874	53169874	A	G	intronic	CHD9	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16423496	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr9	90292189	90292189	G	A	intronic	DAPK1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	cellular phenotype	Alzheimer disease, late onset, association with|Chronic lymphocytic leukaemia  |Inactivation of ERK-induced apoptosis, association	ICGC,
chr2	226117611	226117611	C	T	intergenic	DOCK10,NYAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr17	54411384	54411384	G	A	intronic	ANKFN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr2	79382902	79382902	C	A	intergenic	REG1P,REG3A	unknown	SNV	-	-	-	-	rs559739616	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,homeostasis/metabolism phenotype	-,-	ICGC,
chr19	56422029	56422029	G	T	exonic	NLRP13	nonsynonymous	SNV	0.011	0.786	-	-	-	-	-	-	-	COSM714540	LUSC|1|178|0.00562	LUSC-US|1|194|0.00515	-	-	-	-	COSMIC,TCGA,ICGC,
chr22	22082635	22082635	C	T	intronic	YPEL1	unknown	SNV	-	-	-	9.699e-05	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr6	152008924	152008924	C	T	intergenic	CCDC170,ESR1	unknown	SNV	-	-	-	0.4746	rs3020332	-	0.364018	-	0.435	COSN14790108	-	-	-	-	-,integument phenotype	-,Osteoporosis|Oestrogen resistance|Lower femoral neck BMD, association with|Left ventricular hypertrophy, association with |Ischaemic stroke, association with.|Osteoporosis, association with|Plasma lipid levels, association with|Precocious puberty|Prostate cancer, association with|Reduced plasma B-type natriuretic peptide levels, association|Reduced spermatogenesis in infertile men, association|Systemic lupus erythematosus, risk, association with |Thyroid cancer, tumour status, association with|Infertility, male, association with|Increased HDL cholesterol, association with|Altered endothelial fibrinolytic regulation|Altered gene expression|Altered splicing |Altered transcriptional regulation |Alzheimer disease in women, increased risk|Breast cancer  |Breast cancer in women of 50 years or younger, association with|Breast cancer, association with |Castration-resistant prostate cancer, association|Cleft lip and palate |Endometrial cancer risk, association with|Hepatitis  B virus-related liver cirrhosis, association with|Increased HDL cholesterol after HRT, association with	COSMIC,
chr14	33735695	33735695	A	T	intronic	NPAS3	unknown	SNV	-	-	-	-	rs532990331	-	0.000199681	-	-	-	-	PACA-CA|1|268|0.00373	-	-	mortality/aging	Mental illness|Schizophrenia	ICGC,
chr5	138590115	138590115	G	A	intergenic	SIL1,SNHG4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	mortality/aging,-	Ataxia telangiectasia-like syndrome|Marinesco-Sjogren syndrome,-	ICGC,
chr2	187816390	187816390	C	T	intergenic	ZSWIM2,CALCRL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,-	ICGC,
chr11	91773154	91773154	C	G	intergenic	DISC1FP1,FAT3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,vision/eye phenotype	-,Autism spectrum disorder	ICGC,
chr5	152937224	152937224	C	A	intronic	GRIA1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7881770	-	PACA-AU|1|391|0.00256	-	-	integument phenotype	Intellectual disability  	COSMIC,ICGC,
chr1	190418734	190418734	T	A	intronic	BRINP3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-	-	ICGC,
chr13	87844015	87844015	A	G	intergenic	SLITRK6,MIR4500HG	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6236745	-	LIRI-JP|1|258|0.00388	-	-	behavior/neurological phenotype,-	High myopia and sensorineural deafness,-	COSMIC,ICGC,
chr6	123452723	123452723	-	GT	intergenic	CLVS2,TRDN	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|13|67|0.19403	-	-	-,behavior/neurological phenotype	-,Catecholaminergic polymorphic ventricular tachycardia	ICGC,
chr10	54941394	54941394	G	A	intergenic	MBL2,PCDH15	unknown	SNV	-	-	-	3.24e-05	rs865792961	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	hematopoietic system phenotype,vision/eye phenotype	Leprosy, association with|Lung cancer survival, association with|Mannose-binding protein deficiency, association|Placental malaria, susceptibility to, association with|Systemic lupus erythematosus, association with|Tuberculosis, protection against, association with|Type 2 diabetes, association with|Ulcerative colitis, association with.|Vulvovaginal candidiasis, recurrent, association with|Lepromatous leprosy, protection against, association with|Kawasaki disease, association with|Antiphospholipid syndrome, association with|Bacterial infection, increased risk, association with|Colon cancer, association with|Crohn's disease, in children, association with|Dental caries, association with.|HIV-1 infection, increased susceptibility, association with|HIV-1 infection, susceptibility, association|Increased serum MBL level |Infection, in children, association with.,Usher syndrome II|Usher syndrome 1f|Usher syndrome 1|Lipid levels in hyperlipidaemia, association with|Hearing loss, non-syndromic|Deafness, non-syndromic, autosomal recessive|Deafness, non-syndromic |Deafness  	ICGC,
chr11	79545372	79545372	A	T	intergenic	TENM4,LOC101928944	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	mortality/aging,-	-,-	ICGC,
chr12	12291479	12291479	G	C	intronic	LRP6	unknown	SNV	-	-	0.1753	0.1818	rs2075241	0.1742	0.174321	0.1975	0.159	COSN17137694	-	LICA-CN|1|402|0.00249,LAML-KR|1|205|0.00488,LUSC-KR|2|170|0.01176	-	-	integument phenotype	Neural tube defects|Metabolic syndrome|Fragility fractures, increased risk, association with|Crohn's disease, early-onset ileal, association with|Coronary artery disease, early-onset|Coronary artery disease  |Carotid artery atherosclerosis in hypertension, incr risk, association|Alzheimer disease, late-onset, association with 	COSMIC,COSMIC,COSMIC,COSMIC,COSMIC,COSMIC,ICGC,
chrX	84989205	84989205	T	A	intergenic	POF1B,CHM	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9729015	-	RECA-EU|1|422|0.00237	-	-	normal phenotype,mortality/aging	Premature ovarian failure, association with,Choroideraemia|Potential protein deficiency	COSMIC,ICGC,
chr6	162174342	162174342	G	A	intronic	PARK2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Parkinson disease, decreased risk|Parkinson disease, early-onset|Parkinson disease, early-onset.|Parkinson disease, familial|Parkinson disease, familial, association with |Parkinson disease, idiopathic|Parkinson disease, in heterozygosity, association|Parkinson disease, late-onset|Parkinson disease, sporadic, reduced risk|Parkinson disease.|Parkinsonism, juvenile, autosomal recessive|Parkinsonism, late-onset, association with|Rolandic epilepsy |Parkinson disease, autosomal recessive|Parkinson disease, association with|Parkinson disease with resting leg tremor|Attention deficit hyperactivity disorder |Autism spectrum disorder|Cervical artery dissection|Dementia with Lewy bodies|Developmental delay  |Dystonia, dopa-responsive|Leprosy, association with|Lewy bodies|Lung adenocarcinoma   |Multiple system atrophy, cerebellar subtype|Parkinson disease|Parkinson disease with dementia.|Parkinson disease with Lewy bodies	ICGC,
chr3	8273440	8273440	A	T	ncRNA_intronic	LMCD1-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-	-	ICGC,
chr2	51056691	51056691	G	A	intronic	NRXN1	unknown	SNV	-	-	-	-	rs867289124	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Hypotonia|Hypotonia & encephalopathy|Increased white matter volume, association with|Intellectual disability  |Intellectual disability & attention deficit hyperactivity disorder|Intellectual disability & hearing loss|Intellectual disability & pervasive developmental disorder|Intellectual disability and autism|Intellectual disability, nonsyndromic |Intellectual disability, seizures, dysmorphisms & language delay|Growth retardation  |Epilepsy, myoclonic seizures & speech delay|Developmental disorder|Developmental disorder & attention deficit hyperactivity disorder|Developmental disorder, seizures & attention deficit hyperactivity disorder|Developmental/intellectual disability, hypotonia & dysmorphic features|Disorder of muscle, ligament & fascia|Encephalopathy  |Epilepsy  |Epilepsy with cognitive impairment / autism spectrum disorder|Epilepsy with focal seizures|Epilepsy, generalised |Intellectual disability, seizures, language delay & hypotonia|Language delay|Learning difficulties|Respiratory distress & sepsis|Respiratory distress syndrome|Schizophrenia |Schizophrenia, childhood onset |Schizophrenia, disorganised type|Seizures, generalized tonic-clonic & attention deficit hyperactivity disorder|Sensory integration disorder & attention deficit hyperactivity disorder|Speech delay & social communication difficulties|Tourette syndrome|Pervasive developmental disorder / hypotonia|Pervasive developmental disorder|Pervasive developmental delay / mental retardation, lack of coordination & hearing loss|Learning difficulties, ADHD & autism|Mental retardation|Mental retardation, autism, vertebral malformations|Mental retardation, Pitt-Hopkins-like|Microcephaly & mental retardation|Multiple congenital anomalies  |Multiple disabilities|Myoclonic epilepsy   |Neurodevelopmental disorder  |Vertebral anomalies|Developmental delay, speech delay & social communication difficulties|Attention deficit hyperactivity disorder |Autism spectrum disorder, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability & language delay|Autism spectrum disorder, intellectual disability, dysmorphisms, developmental delay & language delay|Autism spectrum disorder, intellectual disability, seizures & developmental delay|Autism spectrum disorder, intellectual disability, seizures, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability, seizures, dysmorphisms & language delay|Autism spectrum disorder, seizures, developmental delay & language delay|Autism, intellectual disability & attention deficit hyperactivity disorder|Autistic disorder|Autism spectrum disorder with developmental & speech delay|Autism spectrum disorder & seizures|Autism spectrum disorder & language delay|Autism |Autism & learning difficulties|Autism & mental retardation|Autism & seizures|Autism spectrum disorder|Autism spectrum disorder & attention deficit hyperactivity disorder|Autism spectrum disorder & developmental delay|Autism spectrum disorder & dysmorphic features|Autism spectrum disorder & intellectual disability|Behavioural problems|Congenital heart defect  |Craniofacial dysmorphism|Developmental delay & speech/motor delay|Developmental delay with early-onset epilepsy|Developmental delay, dysmorphic features & short stature|Developmental delay, epilepsy, autism|Developmental delay, language delay & hypotonia|Developmental delay, learning difficulties, ADHD|Developmental delay, microcephaly & behavioural problems|Developmental delay, pulmonic stenosis & autism spectrum disorder|Developmental delay, short stature and diaphragmatic hernia|Developmental delay, speech delay & microcephaly|Developmental delay & seizures|Developmental delay & seizure disorder|Cystic hygroma, hydrops & micrognathia|Cystic hygroma, shortened upper limbs & fetal demise|Developmental & speech delay|Developmental delay|Developmental delay / autism|Developmental delay & autism|Developmental delay & dysmorphic features|Developmental delay & epilepsy|Developmental delay & hypotonia|Developmental delay & multiple congenital anomalies	ICGC,
chr12	59853368	59853368	A	G	intergenic	LRIG3,SLC16A7	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22496766	-	BRCA-EU|1|569|0.00176	-	-	behavior/neurological phenotype,-	-,Autism spectrum disorder	COSMIC,ICGC,
chr6	25407330	25407330	C	T	intronic	LRRC16A	unknown	SNV	-	-	-	0.1513	rs13217807	-	0.135184	-	0.203	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr8	35782425	35782425	G	A	intergenic	UNC5D,KCNU1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,reproductive system phenotype	-,Schizophrenia  	ICGC,
chr8	132110470	132110470	G	A	intergenic	ADCY8,EFR3A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Myocardial infarction  ,Autism|Potential protein deficiency	ICGC,
chr3	77971896	77971896	T	G	intergenic	ROBO2,ROBO1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,mortality/aging	Autism spectrum disorder  |Urinary tract anomalies|Vesicoureteral reflux,Developmental dyslexia 	ICGC,
chr2	103619509	103619509	C	T	intergenic	TMEM182,LOC100287010	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|2|100|0.02000	-	-	-,-	-,-	ICGC,
chr8	40628147	40628147	A	G	intronic	ZMAT4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr3	5282978	5282978	C	A	intergenic	EDEM1,MIR4790	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-,-	Breast cancer, increased risk  ,-	ICGC,
chr20	25518162	25518162	T	C	intronic	NINL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-	-	ICGC,
chr2	28883883	28883883	C	A	intergenic	PLB1,PPP1CB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,mortality/aging	Potential protein deficiency|Rheumatoid arthritis, increased risk ,-	ICGC,
chr5	140797634	140797634	G	A	exonic	PCDHGB7	nonsynonymous	SNV	0.431	0.509	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr6	160921379	160921379	A	G	ncRNA_intronic	LPAL2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-	-	ICGC,
chr5	53073672	53073672	A	T	intergenic	NDUFS4,ARL15	unknown	SNV	-	-	-	0.0943	rs2221387	-	0.10024	-	0.123	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,-	Mitochondrial respiratory disease|Leigh syndrome|Complex I deficiency|Complex 1 deficiency|Complex 1 and 3 deficiency, combined,-	ICGC,
chr18	63145876	63145876	-	T	intergenic	LOC284294,CDH7	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|2|67|0.02985	-	-	-,-	-,-	ICGC,
chr13	82037945	82037945	A	C	intergenic	SPRY2,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25970881	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	Cleft lip ,-	COSMIC,ICGC,
chr4	61252147	61252147	G	A	intergenic	NONE,LPHN3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,behavior/neurological phenotype	-,-	ICGC,
chr1	8304532	8304532	C	G	intergenic	ERRFI1,SLC45A1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17340326	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,-	-,-	COSMIC,ICGC,
chr12	130326304	130326304	C	T	intronic	TMEM132D	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	Panic disorder  	ICGC,
chr12	87493907	87493907	G	A	intergenic	MGAT4C,MKRN9P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Prostate cancer, increased risk |Mental retardation,-	ICGC,
chr18	61368510	61368510	A	G	intergenic	SERPINB3,SERPINB11	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Liver cirrhosis, association with,Non-inhibitory variant	ICGC,
chr19	46457711	46457711	C	A	intronic	NOVA2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22523411	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging	-	COSMIC,ICGC,
chr15	94788538	94788538	T	C	intergenic	LOC101927112,MCTP2	unknown	SNV	-	-	-	0.0001	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-,-	-,Coarctation of the aorta |Coarctation of the aorta and hypoplastic left heart syndrome 	ICGC,
chr12	99909111	99909111	C	T	intronic	ANKS1B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Sertoli-cell-only syndrome|Schizophrenia  	ICGC,
chrX	85423932	85423932	T	A	intronic	DACH2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	normal phenotype	-	ICGC,
chr18	62365741	62365741	C	T	intergenic	LOC284294,CDH7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr12	62792599	62792599	-	T	intronic	USP15	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	Autism	ICGC,
chr15	76601863	76601863	C	G	intronic	ETFA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	Electron transfer flavoprotein deficiency|Glutaricacidaemia 2a|Glutaricaciduria 2a|Increased stability	ICGC,
chr13	62274739	62274739	T	C	intergenic	PCDH20,LINC00358	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr4	120644599	120644599	-	TTGTA	intergenic	PDE5A,LINC01365	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr11	7531315	7531315	T	G	exonic	OLFML1	nonsynonymous	SNV	0.575	0.333	1.218e-05	-	rs770881898	8.257e-06	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr7	112186719	112186719	C	T	intergenic	LSMEM1,LOC100996249	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr7	129951265	129951265	G	A	intronic	CPA4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN18814612	-	-	-	-	-	Prostate cancer, aggressive early-onset, association with	COSMIC,
chr4	171594077	171594077	A	T	intergenic	AADAT,LOC100506122	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CN|1|65|0.01538	-	-	vision/eye phenotype,-	-,-	ICGC,
chr18	49920009	49920009	G	A	intronic	DCC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Altered p53 transactivation|Colorectal cancer, risk, association with |Mirror movements, congenital	ICGC,
chr10	11277348	11277349	GT	-	intronic	CELF2	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	PAEN-IT|1|37|0.02703	-	-	-	-	ICGC,
chr15	40443493	40443493	T	C	intergenic	BMF,BUB1B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,integument phenotype	-,Premature chromatid separation syndrome|Mosaic variegated aneuploidy|Leukemia, risk, association with|Gastrointestinal cancer, susceptibility to|Colorectal cancer 	ICGC,
chr5	139397477	139397477	G	A	intronic	NRG2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5158438	-	BRCA-UK|1|141|0.00709,BRCA-EU|1|569|0.00176	-	-	mortality/aging	-	COSMIC,COSMIC,ICGC,
chr16	19117604	19117604	G	A	intergenic	COQ7,ITPRIPL2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	-,-	ICGC,
chrX	41926982	41926982	C	T	intergenic	CASK,PPP1R2P9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Autism |Pontocerebellar hypoplasia 3 with early myoclonic epilepsy and tetralogy of Fallot|Pontocerebellar hypoplasia 2|Opitz-Kaveggia syndrome|Ohtahara syndrome & cerebellar hypoplasia|Nystagmus  |Microcephaly, mental retardation, brainstem & cerebellar hypoplasia|Mental retardation, X-linked |Mental retardation, nystagmus & microcephaly|Mental retardation, microcephaly & pontocerebellar hypoplasia|Autism spectrum disorder|Epilepsy & pontocerebellar hypoplasia|Intellectual disability & microcephaly with pontine & cerebellar hypoplasia|Intellectual disability, microcephaly, pontocerebellar hypoplasia|Mental retardation & microcephaly with pontine & cerebellar hypoplasia|Mental retardation & nystagmus,-	ICGC,
chr2	229183417	229183417	C	T	intergenic	SPHKAP,PID1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,Anorectal malformation	ICGC,
chr18	54883277	54883277	C	T	intergenic	BOD1L2,ST8SIA3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	106621560	106621560	C	T	intergenic	CBLB,LINC00882	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype,-	Diabetes, type 1,-	ICGC,
chr7	123590577	123590577	T	G	intronic	SPAM1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	reproductive system phenotype	-	ICGC,
chrX	6806061	6806061	C	A	intergenic	VCX3A,HDHD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	Intellectual disability, absent speech & behavioural problems|Mental retardation ,-	ICGC,
chr20	38613095	38613096	CA	-	intergenic	LOC339568,LINC01370	unknown	deletion	-	-	-	0	rs376941162	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr4	28671750	28671750	A	G	intergenic	STIM2,MIR4275	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	-,-	ICGC,
chr14	76636286	76636286	C	T	intronic	GPATCH2L	unknown	SNV	-	-	-	0.2164	rs12436562	-	0.188099	-	0.174	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr7	4213887	4213887	C	T	exonic	SDK1	stopgain	SNV	-	-	-	-	-	-	-	-	-	COSM254928	-	BLCA-CN|1|103|0.00971	-	-	-	-	COSMIC,ICGC,
chr2	51943160	51943160	G	C	intergenic	NRXN1,ASB3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging,-	Hypotonia|Hypotonia & encephalopathy|Increased white matter volume, association with|Intellectual disability  |Intellectual disability & attention deficit hyperactivity disorder|Intellectual disability & hearing loss|Intellectual disability & pervasive developmental disorder|Intellectual disability and autism|Intellectual disability, nonsyndromic |Intellectual disability, seizures, dysmorphisms & language delay|Growth retardation  |Epilepsy, myoclonic seizures & speech delay|Developmental disorder|Developmental disorder & attention deficit hyperactivity disorder|Developmental disorder, seizures & attention deficit hyperactivity disorder|Developmental/intellectual disability, hypotonia & dysmorphic features|Disorder of muscle, ligament & fascia|Encephalopathy  |Epilepsy  |Epilepsy with cognitive impairment / autism spectrum disorder|Epilepsy with focal seizures|Epilepsy, generalised |Intellectual disability, seizures, language delay & hypotonia|Language delay|Learning difficulties|Respiratory distress & sepsis|Respiratory distress syndrome|Schizophrenia |Schizophrenia, childhood onset |Schizophrenia, disorganised type|Seizures, generalized tonic-clonic & attention deficit hyperactivity disorder|Sensory integration disorder & attention deficit hyperactivity disorder|Speech delay & social communication difficulties|Tourette syndrome|Pervasive developmental disorder / hypotonia|Pervasive developmental disorder|Pervasive developmental delay / mental retardation, lack of coordination & hearing loss|Learning difficulties, ADHD & autism|Mental retardation|Mental retardation, autism, vertebral malformations|Mental retardation, Pitt-Hopkins-like|Microcephaly & mental retardation|Multiple congenital anomalies  |Multiple disabilities|Myoclonic epilepsy   |Neurodevelopmental disorder  |Vertebral anomalies|Developmental delay, speech delay & social communication difficulties|Attention deficit hyperactivity disorder |Autism spectrum disorder, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability & language delay|Autism spectrum disorder, intellectual disability, dysmorphisms, developmental delay & language delay|Autism spectrum disorder, intellectual disability, seizures & developmental delay|Autism spectrum disorder, intellectual disability, seizures, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability, seizures, dysmorphisms & language delay|Autism spectrum disorder, seizures, developmental delay & language delay|Autism, intellectual disability & attention deficit hyperactivity disorder|Autistic disorder|Autism spectrum disorder with developmental & speech delay|Autism spectrum disorder & seizures|Autism spectrum disorder & language delay|Autism |Autism & learning difficulties|Autism & mental retardation|Autism & seizures|Autism spectrum disorder|Autism spectrum disorder & attention deficit hyperactivity disorder|Autism spectrum disorder & developmental delay|Autism spectrum disorder & dysmorphic features|Autism spectrum disorder & intellectual disability|Behavioural problems|Congenital heart defect  |Craniofacial dysmorphism|Developmental delay & speech/motor delay|Developmental delay with early-onset epilepsy|Developmental delay, dysmorphic features & short stature|Developmental delay, epilepsy, autism|Developmental delay, language delay & hypotonia|Developmental delay, learning difficulties, ADHD|Developmental delay, microcephaly & behavioural problems|Developmental delay, pulmonic stenosis & autism spectrum disorder|Developmental delay, short stature and diaphragmatic hernia|Developmental delay, speech delay & microcephaly|Developmental delay & seizures|Developmental delay & seizure disorder|Cystic hygroma, hydrops & micrognathia|Cystic hygroma, shortened upper limbs & fetal demise|Developmental & speech delay|Developmental delay|Developmental delay / autism|Developmental delay & autism|Developmental delay & dysmorphic features|Developmental delay & epilepsy|Developmental delay & hypotonia|Developmental delay & multiple congenital anomalies,-	ICGC,
chr1	119394364	119394364	A	C	intergenic	SPAG17,TBX15	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,integument phenotype	Autism,Cousin syndrome	ICGC,
chr4	100641995	100641995	T	G	intergenic	MTTP,DAPP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ORCA-IN|1|178|0.00562	-	-	mortality/aging,hematopoietic system phenotype	Total cholesterol levels, association with|Reduced transcriptional activity|Nonalcoholic fatty liver disease, association with|Microsomal triglyceride transfer protein deficiency, mild|Lower plasma LDL cholesterol, association with|Increased malondialdehyde-modified low-density lipoprotein levels, association with|Hypercholesterolemia, modifier of|Diabetes, type 2, association with|Diabetes, MODY |Abetalipoproteinaemia,Autism	ICGC,
chr14	57051565	57051565	C	T	intronic	TMEM260	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	-	-	ICGC,
chr8	15959922	15959922	-	CG	intergenic	TUSC3,MSR1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-,mortality/aging	Mental retardation, non-syndromic, autosomal recessive|Intellectual disability, syndromic  |Intellectual disability, nonsyndromic, autosomal recessive|Intellectual disability & autism|Attention deficit hyperactivity disorder ,Prostate cancer, association with|Prostate cancer|Chronic obstructive pulmonary disease, in smokers, association with|Barrett oesophagus/oesophageal adenocarcinoma|Atherosclerosis, increased risk, association with	ICGC,
chr1	52019000	52019000	C	T	intergenic	EPS15,OSBPL9	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24485866	-	GACA-CN|1|123|0.00813	-	-	hematopoietic system phenotype,-	-,-	COSMIC,ICGC,
chrX	53933861	53933861	T	-	intergenic	HUWE1,PHF8	unknown	deletion	-	-	-	0.0002	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373,LIRI-JP|1|258|0.00388	-	-	mortality/aging,-	Schizophrenia|Mental retardation, X-linked |Intellectual disability, X-linked|Intellectual disability, nonsyndromic|Intellectual disability, growth retardation, minimal speech, rigid gait & behavioural problems|Congenital heart disease |Autism,Autism|X-linked mental retardation & cleft lip/palate	ICGC,
chr2	194654320	194654320	T	G	intergenic	PCGEM1,LOC101927406	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr5	11123241	11123241	G	A	intronic	CTNND2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	behavior/neurological phenotype	Schizophrenia  |Lennox-Gastaut syndrome |Autism spectrum disorder|Anorectal malformation|Altered localisation	ICGC,
chr18	186664	186664	G	A	intronic	USP14	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	-	ICGC,
chr10	83612640	83612640	T	C	intergenic	SH2D4B,NRG3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	-,Schizophrenia, association with |Increased ventrolateral PFC activation|Hirschsprung disease  	ICGC,
chr11	37467945	37467945	G	C	intergenic	C11orf74,LOC103312105	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	ICGC,
chr5	103628335	103628335	G	T	intergenic	NUDT12,RAB9BP1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17672263	-	ESAD-UK|1|301|0.00332,LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr12	76935681	76935681	G	T	intronic	OSBPL8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr14	97892856	97892856	G	A	intergenic	LINC00618,LOC101929241	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr13	71162307	71162307	C	G	intergenic	ATXN8OS,LINC00348	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	behavior/neurological phenotype,-	Huntington disease  |Spinocerebellar ataxia 8,-	ICGC,
chr6	132748200	132748200	G	A	intergenic	MOXD1,STX7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr20	52823004	52823004	G	A	intergenic	CYP24A1,PFDN4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging,-	Reduced gene expression|Reduced enzyme activity|Nephrolithiasis.|Hypercalciuric nephrolithiasis and nephrocalcinosis.|Hypercalciuric nephrolithiasis and nephrocalcinosis|Hypercalciuria and recurrent nephrolithiasis.|Hypercalcaemia, increased risk|Hypercalcaemia, idiopathic infantile|Hypercalcaemia, hypercalciuria & elevated calcitriol concentrations|Hypercalcaemia and hypercalciuria,-	ICGC,
chr15	93941564	93941564	G	T	intergenic	RGMA,LOC101927153	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging,-	Autism,-	ICGC,
chr1	208255851	208255851	G	T	exonic	PLXNA2	stopgain	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	vision/eye phenotype	Tetralogy of Fallot	ICGC,
chr5	87759276	87759276	T	C	intergenic	LOC102546226,LINC00461	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr3	168165008	168165008	G	T	ncRNA_intronic	EGFEM1P	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9532198	-	OV-AU|1|93|0.01075	-	-	-	-	COSMIC,ICGC,
chr2	30325341	30325341	A	G	intergenic	ALK,YPEL5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	Medulloblastoma |Neuroblastoma,-	ICGC,
chr11	105627146	105627146	A	T	intronic	GRIA4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5295652	-	LIRI-JP|1|258|0.00388	-	-	integument phenotype	-	COSMIC,ICGC,
chr20	43982122	43982122	G	A	intergenic	SDC4,SYS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	-,-	ICGC,
chr5	143627270	143627270	T	C	intronic	KCTD16	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr3	151293351	151293351	T	C	intergenic	MIR5186,MIR548H2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr12	110897558	110897558	G	T	exonic	GPN3	nonsynonymous	SNV	0.109	0.005	-	-	-	-	-	-	-	COSM5769312	-	BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,COSMIC,ICGC,
chr7	33386778	33386778	C	T	intronic	BBS9	unknown	SNV	-	-	-	0.0257	rs79346069	-	0.0638978	-	0.029	-	-	LAML-KR|1|205|0.00488	-	-	-	Wilms tumour |Tetralogy of Fallot|Nephronophthisis-related ciliopathy|Bardet-Biedl syndrome	ICGC,
chr7	56783108	56783108	G	-	intergenic	LOC101928401,LOC100130849	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr2	165105659	165105659	C	T	intergenic	FIGN,GRB14	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	integument phenotype,hematopoietic system phenotype	-,-	ICGC,
chr1	142792972	142792972	C	A	intergenic	ANKRD20A12P,LOC102723769	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr9	89596016	89596016	C	T	ncRNA_intronic	LOC100506834	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25106390	-	MALY-DE|1|241|0.00415	-	-	-	-	COSMIC,ICGC,
chr19	28850303	28850303	C	G	intergenic	LOC101927151,LOC100420587	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-FR|1|72|0.01389	-	-	-,-	-,-	ICGC,
chr16	26036054	26036054	A	-	intronic	HS3ST4	unknown	deletion	-	-	-	-	-	-	-	-	-	COSN26279764	-	ESAD-UK|1|301|0.00332,PRAD-UK|1|140|0.00714,MELA-AU|1|183|0.00546	-	-	-	-	COSMIC,ICGC,
chr7	144125869	144125869	T	A	intergenic	NOBOX,TPK1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	reproductive system phenotype,-	Ovarian failure|Ovarian insufficiency, primary,Thiamine pyrophosphokinase deficiency|Leigh-like disease|Colorectal cancer, increased risk, association with |Autism	ICGC,
chr4	183136748	183136748	T	A	intergenic	MIR1305,TENM3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,Microphthalmia  	ICGC,
chr9	88180091	88180091	T	C	intronic	AGTPBP1	unknown	SNV	-	-	-	0.0003	rs544159536	-	0.000199681	-	-	-	-	PBCA-US|1|186|0.00538	-	-	vision/eye phenotype	-	ICGC,
chr7	127535476	127535478	GAG	-	intronic	SND1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	-	Schizophrenia	ICGC,
chr2	177159022	177159028	TTTTTTC	-	intronic	MTX2	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	-	ICGC,
chr5	141660886	141660886	C	T	intergenic	NDFIP1,SPRY4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN4843934	-	MALY-DE|1|241|0.00415	-	-	integument phenotype,mortality/aging	-,Hypogonadotropic hypogonadism, idiopathic|Kallmann syndrome	COSMIC,ICGC,
chr7	131220894	131220894	C	G	intronic	PODXL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-UK|1|140|0.00714	-	-	mortality/aging	Focal and segmental glomerulosclerosis	ICGC,
chr16	20219476	20219476	C	T	intergenic	GPR139,GP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,endocrine/exocrine gland phenotype	Autism|Schizophrenia    ,Pancreatitis, reduced risk, association with  	ICGC,
chr5	41506022	41506022	C	T	intronic	PLCXD3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2513719	-	-	-	-	-	-	COSMIC,
chr8	90020623	90020623	C	T	intergenic	MMP16,RIPK2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|3|183|0.01639	-	-	mortality/aging,hematopoietic system phenotype	-,Autism spectrum disorder	ICGC,
chr13	83301645	83301645	T	A	intergenic	NONE,SLITRK1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Trichotillomania|Tourette syndrome|Obsessive-compulsive disorder |Attention deficit hyperactivity disorder 	ICGC,
chr7	35361638	35361638	C	T	ncRNA_intronic	LOC401324	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr1	238287481	238287481	G	A	intergenic	LOC100130331,LINC01139	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr1	179345523	179345523	C	T	intronic	AXDND1	unknown	SNV	-	-	-	3.23e-05	-	-	-	-	-	COSN16643188	-	PACA-CA|1|268|0.00373	-	-	-	-	COSMIC,ICGC,
chr7	89383677	89383677	C	T	intergenic	ZNF804B,STEAP2-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr12	47818732	47818732	C	G	intergenic	PCED1B,RPAP3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	ICGC,
chr13	41411270	41411270	G	A	ncRNA_intronic	TPTE2P5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr5	85978798	85978798	T	C	intergenic	COX7C,LOC100505878	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr4	4343333	4343333	G	A	intergenic	ZBTB49,NSG1	unknown	SNV	-	-	-	0.0876	rs77655553	-	0.0601038	-	0.014	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr18	41639069	41639069	A	C	intergenic	SYT4,LOC101927921	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	behavior/neurological phenotype,-	-,-	ICGC,
chr15	72329838	72329838	C	T	intronic	MYO9A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22252308	-	BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr8	68669984	68669984	G	A	intergenic	CPA6,PREX2	unknown	SNV	-	-	-	6.482e-05	-	-	-	-	-	COSN26042062	-	ESAD-UK|1|301|0.00332	-	-	-,behavior/neurological phenotype	Temporal lobe epilepsy, association with|Temporal lobe epilepsy|Reduced protein expression|Reduced activity|Potential protein deficiency|Febrile seizures|Duane retraction syndrome 1,-	COSMIC,ICGC,
chr14	62967104	62967104	C	T	intergenic	LINC00644,KCNH5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-,behavior/neurological phenotype	-,Epileptic encephalopathy 	ICGC,
chr13	22248847	22248847	T	-	intronic	FGF9	unknown	deletion	-	-	-	0.0168	-	-	-	-	-	COSN27240760	-	BTCA-SG|8|71|0.11268	-	-	integument phenotype	Multiple synostoses syndrome|Gonadal dysgenesis, association with	COSMIC,COSMIC,COSMIC,COSMIC,ICGC,
chr7	109740407	109740407	C	A	intergenic	EIF3IP1,IMMP2L	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,reproductive system phenotype	-,Gilles de la Tourette syndrome|Autism	ICGC,
chr4	28257885	28257885	A	G	intergenic	STIM2,MIR4275	unknown	SNV	-	-	-	0.2830	rs68152757	-	0.299521	-	0.290	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,-	-,-	ICGC,
chr10	45957363	45957363	G	A	intronic	MARCH8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-	Mean cell volume, association with	ICGC,
chr5	135809238	135809238	C	T	intergenic	TRPC7,SPOCK1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17008639	-	PRAD-CA|1|308|0.00325	-	-	vision/eye phenotype,normal phenotype	-,Developmental delay & microcephaly	COSMIC,COSMIC,ICGC,
chr4	52894953	52894953	C	T	exonic	SGCB	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM1055920	UCEC|1|248|0.00403	UCEC-US|1|250|0.00400	-	-	immune system phenotype	Muscular dystrophy, progressive|Muscular dystrophy, limb girdle 2E|Muscular dystrophy, limb girdle|Muscular dystrophy, Duchenne-like|Muscular dystrophy, Duchenne |Cardiomyopathy, dilated.	COSMIC,TCGA,ICGC,
chr15	46549784	46549784	G	A	intergenic	SQRDL,SEMA6D	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,immune system phenotype	-,Developmental language disorder 	ICGC,
chr10	50041477	50041477	A	C	intronic	WDFY4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Systemic lupus erythematosus, association with	ICGC,
chr1	178408616	178408616	G	T	exonic	RASAL2	nonsynonymous	SNV	0.103	0.019	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr15	94000644	94000644	C	T	intergenic	RGMA,LOC101927153	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26704759	-	BRCA-FR|1|72|0.01389,MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Autism,-	COSMIC,ICGC,
chr2	196965389	196965389	G	A	intergenic	DNAH7,STK17B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1816904	-	LIRI-JP|1|258|0.00388	-	-	-,hematopoietic system phenotype	Autism spectrum disorder,-	COSMIC,ICGC,
chr2	4565232	4565232	G	A	intergenic	LINC01304,LINC01249	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr1	248323451	248323451	T	C	intergenic	OR2M5,OR2M2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,Autism spectrum disorder	ICGC,
chr6	35596264	35596264	C	T	intronic	FKBP5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	mortality/aging	Accelerated response to antidepressants, association with|Harm avoidance & cooperativeness, association with	ICGC,
chr17	4857069	4857069	G	A	exonic	ENO3	nonsynonymous	SNV	0.17	0.002	-	-	-	-	-	-	-	COSM4828957	CESC|1|194|0.00515	CESC-US|1|194|0.00515	-	-	-	Beta-enolase deficiency	COSMIC,TCGA,ICGC,
chr5	161168579	161168579	G	A	intergenic	GABRA6,GABRA1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,mortality/aging	Idiopathic epilepsy, generalised ,Myoclonic epilepsy, juvenile|Epileptic encephalopathy  |Epilepsy, idiopathic generalised  |Epilepsy, idiopathic  |Dravet syndrome   |Childhood absence epilepsy|Altered promoter activity	ICGC,
chr16	32490547	32490547	G	C	intergenic	LOC390705,TP53TG3	unknown	SNV	-	-	-	9.81e-05	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr14	99861701	99861701	C	T	intergenic	BCL11B,SETD3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,-	-,-	ICGC,
chr4	41472971	41472971	T	C	intronic	LIMCH1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr3	47131738	47131738	-	AAAC	intronic	SETD2	unknown	insertion	-	-	-	0.0003	rs527358829	-	0.00139776	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Autism	ICGC,
chr1	190955475	190955475	A	G	intergenic	LOC440704,RGS18	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5361365	-	LIRI-JP|1|258|0.00388	-	-	-,no phenotypic analysis	-,Potential protein deficiency	COSMIC,ICGC,
chr2	52301332	52301332	T	G	intergenic	NRXN1,ASB3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	Hypotonia|Hypotonia & encephalopathy|Increased white matter volume, association with|Intellectual disability  |Intellectual disability & attention deficit hyperactivity disorder|Intellectual disability & hearing loss|Intellectual disability & pervasive developmental disorder|Intellectual disability and autism|Intellectual disability, nonsyndromic |Intellectual disability, seizures, dysmorphisms & language delay|Growth retardation  |Epilepsy, myoclonic seizures & speech delay|Developmental disorder|Developmental disorder & attention deficit hyperactivity disorder|Developmental disorder, seizures & attention deficit hyperactivity disorder|Developmental/intellectual disability, hypotonia & dysmorphic features|Disorder of muscle, ligament & fascia|Encephalopathy  |Epilepsy  |Epilepsy with cognitive impairment / autism spectrum disorder|Epilepsy with focal seizures|Epilepsy, generalised |Intellectual disability, seizures, language delay & hypotonia|Language delay|Learning difficulties|Respiratory distress & sepsis|Respiratory distress syndrome|Schizophrenia |Schizophrenia, childhood onset |Schizophrenia, disorganised type|Seizures, generalized tonic-clonic & attention deficit hyperactivity disorder|Sensory integration disorder & attention deficit hyperactivity disorder|Speech delay & social communication difficulties|Tourette syndrome|Pervasive developmental disorder / hypotonia|Pervasive developmental disorder|Pervasive developmental delay / mental retardation, lack of coordination & hearing loss|Learning difficulties, ADHD & autism|Mental retardation|Mental retardation, autism, vertebral malformations|Mental retardation, Pitt-Hopkins-like|Microcephaly & mental retardation|Multiple congenital anomalies  |Multiple disabilities|Myoclonic epilepsy   |Neurodevelopmental disorder  |Vertebral anomalies|Developmental delay, speech delay & social communication difficulties|Attention deficit hyperactivity disorder |Autism spectrum disorder, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability & language delay|Autism spectrum disorder, intellectual disability, dysmorphisms, developmental delay & language delay|Autism spectrum disorder, intellectual disability, seizures & developmental delay|Autism spectrum disorder, intellectual disability, seizures, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability, seizures, dysmorphisms & language delay|Autism spectrum disorder, seizures, developmental delay & language delay|Autism, intellectual disability & attention deficit hyperactivity disorder|Autistic disorder|Autism spectrum disorder with developmental & speech delay|Autism spectrum disorder & seizures|Autism spectrum disorder & language delay|Autism |Autism & learning difficulties|Autism & mental retardation|Autism & seizures|Autism spectrum disorder|Autism spectrum disorder & attention deficit hyperactivity disorder|Autism spectrum disorder & developmental delay|Autism spectrum disorder & dysmorphic features|Autism spectrum disorder & intellectual disability|Behavioural problems|Congenital heart defect  |Craniofacial dysmorphism|Developmental delay & speech/motor delay|Developmental delay with early-onset epilepsy|Developmental delay, dysmorphic features & short stature|Developmental delay, epilepsy, autism|Developmental delay, language delay & hypotonia|Developmental delay, learning difficulties, ADHD|Developmental delay, microcephaly & behavioural problems|Developmental delay, pulmonic stenosis & autism spectrum disorder|Developmental delay, short stature and diaphragmatic hernia|Developmental delay, speech delay & microcephaly|Developmental delay & seizures|Developmental delay & seizure disorder|Cystic hygroma, hydrops & micrognathia|Cystic hygroma, shortened upper limbs & fetal demise|Developmental & speech delay|Developmental delay|Developmental delay / autism|Developmental delay & autism|Developmental delay & dysmorphic features|Developmental delay & epilepsy|Developmental delay & hypotonia|Developmental delay & multiple congenital anomalies,-	ICGC,
chr1	238626518	238626518	-	ATCC	intergenic	LOC100130331,LINC01139	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr11	124467558	124467558	G	A	intergenic	OR8A1,PANX3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	taste/olfaction phenotype,-	-,-	ICGC,
chrX	1643088	1643088	G	T	intronic	P2RY8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-	-	ICGC,
chr9	66458586	66458586	C	T	ncRNA_intronic	LINC01410	unknown	SNV	-	-	-	-	rs111465506	-	-	-	-	-	-	PRAD-CA|5|308|0.01623,SKCA-BR|1|100|0.01000,LUSC-KR|1|170|0.00588	-	-	-	-	ICGC,
chr11	134064072	134064072	T	A	intronic	NCAPD3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr5	23380822	23380822	T	G	intergenic	CDH12,PRDM9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,reproductive system phenotype	Lung cancer, susceptibility to, association with,Altered meiotic recombination hotspot usage|Azoospermia by meiotic arrest, association with |Azoospermia, non-obstructive 	ICGC,
chr10	38607923	38607923	G	A	intergenic	LOC100129055,HSD17B7P2	unknown	SNV	-	-	-	3.251e-05	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr6	67457946	67457946	C	T	intergenic	SLC25A51P1,BAI3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr2	81975195	81975195	G	A	intergenic	LOC100507201,LOC1720	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23415027	-	EOPC-DE|1|202|0.00495	-	-	-,-	-,-	COSMIC,ICGC,
chr1	97444360	97444360	T	G	intergenic	PTBP2,DPYD	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21119836	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging,-	-,Schizophrenia  |Reduced enzyme activity|Intellectual disability and autism|Intellectual disability  |Increased enzyme activity|Fluoropyrimidine-related toxicity, association with|Dihydropyrimidine dehydrogenase deficiency, partial|Dihydropyrimidine dehydrogenase deficiency|Autism spectrum disorder  	COSMIC,ICGC,
chr10	84708685	84708685	A	C	intronic	NRG3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype	Schizophrenia, association with |Increased ventrolateral PFC activation|Hirschsprung disease  	ICGC,
chr1	83005547	83005547	G	A	intergenic	LPHN2,LINC01361	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,-	Schizophrenia,-	ICGC,
chr6	52522321	52522321	C	T	intergenic	TRAM2-AS1,LOC730101	unknown	SNV	-	-	-	-	rs764523570	-	-	-	-	COSN1084044	UCEC|1|248|0.00403	UCEC-US|1|250|0.00400	-	-	-,-	-,-	COSMIC,TCGA,ICGC,
chr15	35741561	35741561	G	A	intronic	DPH6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr15	102201331	102201331	G	A	intronic	TARSL2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr13	38482517	38482517	T	G	intergenic	TRPC4,LINC00571	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	cardiovascular system phenotype,-	Myocardial infarction, reduced risk, association with,-	ICGC,
chr14	100575072	100575072	G	A	intronic	EVL	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23495291	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	-	COSMIC,ICGC,
chr14	22796127	22796138	TTTCATCGCATT	-	intergenic	OR4E2,DAD1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,-	ICGC,
chr3	152702118	152702118	T	C	intergenic	P2RY1,RAP2B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6736772	-	LIRI-JP|1|258|0.00388	-	-	hematopoietic system phenotype,-	-,-	COSMIC,ICGC,
chr5	104001787	104001787	T	A	intergenic	NUDT12,RAB9BP1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23820113	-	ORCA-IN|1|178|0.00562	-	-	-,-	-,-	COSMIC,ICGC,
chrX	113240222	113240222	A	-	intergenic	LOC101928437,HTR2C	unknown	deletion	-	-	-	0.4078	rs11316323	-	0.368212	-	0.007	-	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	-,Tourette syndrome, association with|Tardive dyskinesia, association with|Suicide, association with|Reduced promoter activity|Premature ejaculation, association with|Increased promoter activity, association with|Hallucinations, in Alzheimer disease, association|Greater dopamine release|Alcohol use disorder comorbidity, association with|Anxiety, and Appetite disturbances in females, in Alzheimer disease, association with.|Bipolar affective disorder, association with|BMI, association with|Depression, in Alzheimer disease, association with.|Diabetes, association with	ICGC,
chr21	38405663	38405663	A	G	intergenic	RIPPLY3,PIGP	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9158046	-	OV-AU|1|93|0.01075	-	-	-,-	-,-	COSMIC,ICGC,
chr16	73519585	73519585	C	T	intergenic	LOC100506172,LOC101928035	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chrX	21608733	21608733	A	G	exonic	CNKSR2	nonsynonymous	SNV	0.763	0.002	-	-	-	-	-	-	-	COSM6586697	-	-	-	-	-	Intellectual disability, X-linked non-syndromic	COSMIC,COSMIC,
chr7	131322268	131322268	G	A	intergenic	PODXL,LOC101928782	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,-	Focal and segmental glomerulosclerosis,-	ICGC,
chr5	187785	187785	G	A	UTR3	PLEKHG4B	unknown	SNV	-	-	-	0.0002	rs528021445	-	0.000399361	-	-	-	-	ORCA-IN|1|178|0.00562	-	-	-	-	ICGC,
chr18	73463995	73463995	C	A	intergenic	SMIM21,LOC339298	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7350780	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	COSMIC,ICGC,
chr17	51329514	51329514	T	G	intergenic	C17orf112,KIF2B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr2	35354355	35354355	A	C	intergenic	MYADML,LOC100288911	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7803000	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	COSMIC,ICGC,
chr9	25389848	25389848	A	T	intergenic	IZUMO3,TUSC1	unknown	SNV	-	-	-	0.5635	rs10738715	-	0.616613	-	0.471	COSN1377041	-	LINC-JP|1|394|0.00254	-	-	-,-	-,-	COSMIC,ICGC,
chr14	32119359	32119359	A	G	intronic	NUBPL	unknown	SNV	-	-	-	0.3075	rs12184972	-	0.290136	-	0.261	-	-	LAML-KR|2|205|0.00976	-	-	-	Progressive nystagmus, cerebellar ataxia, pyramidal signs & slurred speech|Complex I deficiency	ICGC,
chr7	131121187	131121187	A	T	intronic	MKLN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	-	ICGC,
chr2	195931404	195931404	TC	AT	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr19	5333318	5333318	A	-	intronic	PTPRS	unknown	deletion	-	-	-	0.0005	rs200519056	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	integument phenotype	-	ICGC,
chr21	39465407	39465407	C	T	intronic	DSCR4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr16	51881548	51881548	G	A	intergenic	LOC101927364,C16orf97	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr7	89062815	89062815	C	A	intergenic	ZNF804B,STEAP2-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17533099	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr4	187856530	187856530	T	A	intergenic	FAT1,LOC339975	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Autism,-	ICGC,
chr9	13167784	13167784	G	T	intronic	MPDZ	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	Retinitis pigmentosa |Leber congenital amaurosis  |Hydrocephalus|Autism	ICGC,
chr4	137783051	137783051	G	C	intergenic	LINC00613,PCDH18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,-	-,Intellectual disability  	ICGC,
chr22	42461637	42461637	C	G	intronic	NAGA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	homeostasis/metabolism phenotype	N-acetylgalactosaminidase alpha deficiency|Neuroaxonal dystrophy, infantile	ICGC,
chr13	59230707	59230707	A	C	intergenic	LOC101926897,DIAPH3	unknown	SNV	-	-	-	0.1726	rs80288879	-	0.188299	-	0.174	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,Autism  |Auditory neuropathy spectrum disorder|Auditory neuropathy	ICGC,
chr6	32218681	32218681	A	G	intergenic	NOTCH4,C6orf10	unknown	SNV	-	-	-	0.2208	rs10223710	-	0.245208	-	0.152	-	-	LAML-KR|1|205|0.00488	-	-	cardiovascular system phenotype,-	Worsening migraine symptoms at menarche, association with|Schizophrenia, association with |Multiple sclerosis, protection, association with |Migraine severity, association with|Migraine duration, association with|Alopecia universalis, association with ,-	ICGC,
chr2	37040775	37040775	G	T	intronic	VIT	unknown	SNV	-	-	-	0.0438	rs62132505	-	0.0373403	-	0.051	-	-	ESAD-UK|1|301|0.00332	-	-	-	Potential protein deficiency	ICGC,
chr14	90174800	90174800	-	T	intergenic	FOXN3,EFCAB11	unknown	insertion	-	-	-	0.0115	rs200562394	-	0.0135783	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr12	17131993	17131993	C	T	intergenic	LMO3,SKP1P2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	-,-	ICGC,
chr8	60926549	60926549	T	A	intergenic	TOX,CA8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	hematopoietic system phenotype,behavior/neurological phenotype	Pulmonary tuberculosis, association  with,Ataxia, cerebellar hypoplasia|Cerebellar ataxia and quadrupedal locomotion|Cerebellar ataxia, mental retardation & dysequilibrium syndrome 3	ICGC,
chr4	29013900	29013900	G	T	intergenic	MIR4275,PCDH7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr8	137779023	137779023	C	T	intergenic	KHDRBS3,FAM135B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr10	110317854	110317854	C	A	intergenic	SORCS1,RNU6-53P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	other phenotype,-	Autism ,-	ICGC,
chr1	246848624	246848624	-	TTTTT	intergenic	CNST,SCCPDH	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr6	76876104	76876104	C	T	intergenic	IMPG1,HTR1B	unknown	SNV	-	-	-	0.2645	rs6900948	-	0.23103	-	0.297	-	-	ESAD-UK|2|301|0.00664	-	-	-,skeleton phenotype	Macular dystrophy, vitelliform,Suicidal ideation, in major depression, association with|Receptor variant|Alcohol dependence, association with|Alcohol and drug abuse, association with|Aggressive behaviour, association with	ICGC,
chr3	68728229	68728229	C	T	intergenic	FAM19A1,FAM19A4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr18	38560477	38560477	T	C	intergenic	LOC101927900,KC6	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1742022	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr8	47063498	47063498	G	A	intergenic	NONE,LINC00293	unknown	SNV	-	-	-	3.259e-05	rs771351869	-	-	-	-	COSN8086284	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	COSMIC,ICGC,
chr8	138116768	138116768	T	A	intergenic	KHDRBS3,FAM135B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22189896	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr4	38170612	38170612	A	G	intergenic	TBC1D1,LINC01258	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	normal phenotype,-	Obesity, association with,-	ICGC,
chr15	87376398	87376398	C	A	intronic	AGBL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CN|1|65|0.01538	-	-	-	Fuchs corneal dystrophy, late-onset 	ICGC,
chr3	89276836	89276836	G	A	intronic	EPHA3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Oligozoospermia|Schizophrenia    |Sertoli-cell-only syndrome	ICGC,
chr11	117895786	117895786	C	T	ncRNA_intronic	TMPRSS4-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr8	25407515	25407515	C	T	intergenic	CDCA2,EBF2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,mortality/aging	-,-	ICGC,
chr2	81151069	81151069	G	A	intergenic	CTNNA2,LOC100507201	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Schizophrenia,-	ICGC,
chr1	60716929	60716929	C	T	intergenic	C1orf87,LOC101926964	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr7	145353513	145353513	G	T	intergenic	TPK1,CNTNAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,integument phenotype	Thiamine pyrophosphokinase deficiency|Leigh-like disease|Colorectal cancer, increased risk, association with |Autism,Gilles de la Tourette syndrome|Intellectual disability  |Learning disability & speech problems|Mental retardation |Mental retardation, Pitt-Hopkins-like|Multiple congenital anomalies  |Seizures, neonatal |Speech delay  |Stuttering |Epileptic encephalopathy  |Epilepsy and schizophrenia|Autism|Autism spectrum disorder |Autism spectrum disorder, modifier of|Childhood apraxia of speech|Cortical dysplasia-focal epilepsy syndrome|Developmental and/or speech and/or behavioural problems|Developmental delay  |Developmental delay & dysmorphic features|Dyslexia 	ICGC,
chr6	9303305	9303305	C	A	intergenic	LOC100506207,TFAP2A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,integument phenotype	-,Schizophrenia, episodic, association |Orofacial clefting |Developmental delay/intellectual disability and nasolacrimal duct obstruction|Cisplatin resistance|Branchio-oculo-facial syndrome with thyroglossal duct cyst|Branchio-oculo-facial syndrome	ICGC,
chr3	116056845	116056845	G	A	intronic	LSAMP	unknown	SNV	-	-	-	3.237e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	-	ICGC,
chr1	75497247	75497247	A	G	intergenic	TYW3,LHX8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,Cleft lip 	ICGC,
chr5	146250683	146250683	G	A	intronic	PPP2R2B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Alzheimer disease, association with |Spinocerebellar ataxia 12	ICGC,
chr4	34781360	34781360	A	C	intergenic	NONE,ARAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	69500769	69500769	G	A	intergenic	ANTXR1,GFPT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	mortality/aging,-	Autism|GAPO syndrome|Haemangioma, infantile,Congenital myasthenic syndrome, limb-girdle |Diabetes, type 2, association with|Obesity, association with|Reduced promoter actiivity	ICGC,
chr6	141887224	141887224	T	A	intergenic	MIR4465,NMBR	unknown	SNV	-	-	-	3.231e-05	-	-	-	-	-	COSN5622681	-	LIRI-JP|1|258|0.00388	-	-	-,behavior/neurological phenotype	-,-	COSMIC,ICGC,
chr13	114315239	114315239	C	T	intergenic	ATP4B,GRK1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26723419	-	BRCA-FR|1|72|0.01389	-	-	digestive/alimentary phenotype,vision/eye phenotype	-,Retinitis pigmentosa|Stationary night blindness, Oguchi type	COSMIC,ICGC,
chr8	2137466	2137466	G	T	intergenic	MYOM2,CSMD1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25017571	-	LICA-FR|1|252|0.00397	-	-	-,-	-,Schizophrenia, association with |Hyperinsulinism|Autism|Attention deficit hyperactivity disorder 	COSMIC,ICGC,
chr11	60445414	60445414	C	T	ncRNA_intronic	LINC00301	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr16	70386265	70386265	C	T	intronic	DDX19A	unknown	SNV	-	-	-	3.283e-05	-	-	-	-	-	COSN16820824	-	PACA-CA|1|268|0.00373	-	-	-	-	COSMIC,ICGC,
chr4	98855835	98855835	C	T	intronic	STPG2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-	-	ICGC,
chr4	156721252	156721252	A	G	intronic	GUCY1B3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-JP|1|585|0.00171	-	-	mortality/aging	-	ICGC,
chr1	228790571	228790571	A	G	intergenic	DUSP5P1,RHOU	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr7	62217952	62217952	A	C	intergenic	NONE,ZNF733P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	ICGC,
chr8	68691998	68691998	C	T	intergenic	CPA6,PREX2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,behavior/neurological phenotype	Temporal lobe epilepsy, association with|Temporal lobe epilepsy|Reduced protein expression|Reduced activity|Potential protein deficiency|Febrile seizures|Duane retraction syndrome 1,-	ICGC,
chr10	25079544	25079544	T	G	intergenic	ARHGAP21,PRTFDC1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6964634	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	COSMIC,ICGC,
chr2	36872728	36872728	C	T	intergenic	FEZ2,VIT	unknown	SNV	-	-	-	3.241e-05	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	-,-	-,Potential protein deficiency	ICGC,
chr18	3558294	3558294	G	A	intronic	DLGAP1	unknown	SNV	-	-	-	0.0052	rs114114593	-	0.00439297	-	-	COSN21962911	-	BRCA-EU|1|569|0.00176	-	-	-	Schizophrenia  	COSMIC,ICGC,
chr14	70697455	70697455	C	T	intergenic	SLC8A3,ADAM21P1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,-	-,-	ICGC,
chr9	97221472	97221472	A	G	exonic	HIATL1	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM3943118	-	ESCA-CN|1|332|0.00301	-	-	-	-	COSMIC,ICGC,
chr8	43314590	43314590	G	T	intergenic	POTEA,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr14	24249857	24249857	G	A	intergenic	DHRS2,DHRS4-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr10	43831294	43831294	C	T	intergenic	RASGEF1A,FXYD4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,behavior/neurological phenotype	-,-	ICGC,
chr16	18307030	18307030	G	A	intergenic	XYLT1,NPIPA7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Decreased serum glycosaminoglycan levels, association with|Desbuquois dysplasia type 2|Diabetes, type 1, protection, association |Diabetic nephropathy protection |Increased serum XT1 activity in pseudoxanthoma elasticum, association|Short stature & intellectual disability,-	ICGC,
chr13	101562900	101562900	T	A	ncRNA_intronic	NALCN-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr4	172764440	172764440	G	T	intronic	GALNTL6	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27791325	-	UTCA-FR|1|20|0.05000	-	-	-	-	COSMIC,COSMIC,ICGC,
chr13	86678018	86678018	T	G	intergenic	SLITRK6,MIR4500HG	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24638244	-	ESAD-UK|1|301|0.00332,GACA-CN|1|123|0.00813	-	-	behavior/neurological phenotype,-	High myopia and sensorineural deafness,-	COSMIC,ICGC,
chrX	31727462	31727462	C	G	intronic	DMD	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9485756	-	OV-AU|1|93|0.01075	-	-	mortality/aging	Muscular dystrophy, Duchenne & Charcot-Marie-Tooth disease|Muscular dystrophy, Duchenne & autism|Muscular dystrophy, Duchenne|Muscular dystrophy, Becker.|Muscular dystrophy, Becker with cognitive impairment|Muscular dystrophy, Becker|Muscular dystrophy, Duchenne-like|Muscular dystrophy, Duchenne, epilepsy, macroglossia and mental retardation|Muscular dystrophy, Duchenne.|Muscular dystrophy, Duchenne/Becker|Muscular dystrophy, intermediate|Myopathy  |Potential protein deficiency|Schizophrenia|Muscular dystrophy, atypical|Muscular dystrophy & intellectual disability|Muscular dystrophy|Autism & neuromotor delay|Autism spectrum disorder|Behavioural issues|Cardiomyopathy, dilated|Cardiomyopathy, dilated, X-linked|Cardiomyopathy, dilated.|Dystrophinopathy|Elevated creatine kinase level|Mild Becker muscular dystrophy|Mental retardation, X-linked|Isolated cardiomyopathy|Increased serum creatine kinase levels|Global developmental delay/intellectual disability|Exertional myalgia, muscle stiffness & myoglobinuria	COSMIC,COSMIC,ICGC,
chr6	29133599	29133599	G	A	intergenic	OR2J3,OR2J2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|2|301|0.00664,SKCA-BR|1|100|0.01000	-	-	-,-	Altered cis-3-hexen-1-ol detection|Altered receptor function,Altered receptor function	ICGC,
chr4	33138087	33138087	G	A	intergenic	PCDH7,NONE	unknown	SNV	-	-	-	3.23e-05	rs557293601	-	0.000199681	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	99170945	99170945	G	A	intergenic	DCBLD2,MIR548G	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	Anorectal malformation,-	ICGC,
chr2	154780908	154780908	C	T	intronic	GALNT13	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	normal phenotype	-	ICGC,
chr2	193831464	193831464	T	A	intergenic	PCGEM1,LOC101927406	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr5	151530600	151530600	G	A	ncRNA_intronic	CTB-12O2.1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr8	138317557	138317557	C	T	intergenic	KHDRBS3,FAM135B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	241378613	241378613	G	T	intronic	RGS7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-FR|1|72|0.01389	-	-	mortality/aging	Intellectual disability  |Autism spectrum disorder  	ICGC,
chr5	60312864	60312864	T	A	intronic	NDUFAF2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN18219366	-	-	-	-	-	Mitochondrial encephalomyopathy with dysmorphism & hepatopathy|Mitochondrial complex I deficiency|Complex I deficiency	COSMIC,
chr1	22551574	22551574	C	T	intergenic	WNT4,ZBTB40	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6025218	-	LIRI-JP|1|258|0.00388	-	-	integument phenotype,-	SERKAL syndrome|Rokitansky-Kuster-Hauser syndrome|Renal hypodysplasia|Primary amenorrhea with Mullerian Duct abnormality|Mullerian duct abnormality and hyperandrogenism,Intellectual disability  	COSMIC,ICGC,
chr20	2464888	2464888	G	T	exonic	ZNF343	nonsynonymous	SNV	0.195	0.156	-	-	-	-	-	-	-	-	-	LICA-CN|2|402|0.00498	-	-	-	-	ICGC,
chr8	13239948	13239948	C	T	intronic	DLC1	unknown	SNV	-	-	-	0.0010	rs543902576	-	0.000998403	-	-	-	-	PACA-CA|1|268|0.00373	-	-	mortality/aging	Congenital heart disease 	ICGC,
chrX	140785720	140785720	C	T	exonic	SPANXC,SPANXD	nonsynonymous	SNV	0.011	0.997	-	-	-	-	-	-	-	COSM3232768	SKCM|2|368|0.00543	SKCM-US|2|335|0.00597	-	-	-,-	-,-	COSMIC,TCGA,ICGC,
chr1	95691438	95691438	A	T	intronic	TMEM56-RWDD3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6051014	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr8	48505428	48505428	GG	AA	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr4	34898268	34898268	G	A	intergenic	NONE,ARAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr12	125875359	125875359	-	AC	intronic	TMEM132B	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	-	ICGC,
chr12	73557486	73557486	C	T	ncRNA_intronic	LOC101928137	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr1	12272208	12272208	C	T	intergenic	TNFRSF1B,VPS13D	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype,mortality/aging	Tuberculosis, association with|Systemic lupus erythematosus, association with|Schizophrenia, paranoid, association with|Polycystic ovary syndrome, association with|Lymphatic filariasis with hydrocele, association with|Gene expression, association with|Coronary artery disease, association with|Acne vulgaris, moderate to severe, association with|Acne vulgaris, association with,-	ICGC,
chr2	236713520	236713520	G	A	intronic	AGAP1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16167227	-	PRAD-CA|1|308|0.00325	-	-	-	-	COSMIC,ICGC,
chr17	14729762	14729762	C	A	intergenic	HS3ST3B1,CDRT7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chrY	9969242	9969242	C	T	intergenic	TTTY23B,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr12	58071122	58071122	C	T	intergenic	B4GALNT1,OS9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Spastic paraplegia  |Spastic paraplegia 26,Potential protein deficiency	ICGC,
chr9	30342159	30342159	A	T	intergenic	LINGO2,LINC01242	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17756522	-	ESAD-UK|1|301|0.00332	-	-	-,-	Autism spectrum disorder  |Developmental delay with absent speech,-	COSMIC,ICGC,
chr2	103928745	103928745	T	A	intergenic	TMEM182,LOC100287010	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr4	67866246	67866246	A	G	intergenic	EPHA5-AS1,LOC101927237	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2042215	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr2	117727945	117727945	T	C	intergenic	DPP10,DDX18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	Autism spectrum disorder,-	ICGC,
chr22	26688910	26688910	G	A	exonic	SEZ6L	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM3552924	SKCM|1|368|0.00272	SKCM-US|1|335|0.00299	-	-	behavior/neurological phenotype	-	COSMIC,TCGA,ICGC,
chr17	51266969	51266969	A	C	intergenic	C17orf112,KIF2B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr16	72341347	72341347	C	T	intergenic	PMFBP1,ZFHX3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	Schizophrenia,Prostate cancer risk, association with	ICGC,
chr15	92139493	92139493	C	A	intergenic	LOC101926928,SLCO3A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr18	36308782	36308782	T	C	intergenic	MIR4318,LINC00669	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr2	64253592	64253592	T	A	intergenic	VPS54,PELI1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,mortality/aging	-,-	ICGC,
chr6	133208357	133208357	G	A	intergenic	RPS12,LINC00326	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	4933795	4933795	G	A	intergenic	ITPR1,BHLHE40-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Spinocerebellar ataxia, congenital nonprogressive|Spinocerebellar ataxia type 16|Spinocerebellar ataxia type 15|Spinocerebellar ataxia 15/29|Spinocerebellar ataxia 15/16|Spinocerebellar ataxia 15|Schizophrenia  |Potential protein deficiency,-	ICGC,
chr22	42612114	42612114	G	C	upstream	TCF20	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ORCA-IN|1|178|0.00562	-	-	-	-	ICGC,
chr1	112800230	112800230	C	T	intergenic	LOC643355,CTTNBP2NL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr3	20098802	20098802	G	A	intronic	KAT2B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging	-	ICGC,
chr12	132586667	132586667	C	T	ncRNA_intronic	EP400NL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr2	216235076	216235076	G	A	exonic	FN1	nonsynonymous	SNV	0.003	0.998	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	integument phenotype	Autism|Glomerulopathy with fibronectin deposits|Schizophrenia	ICGC,
chr1	202779632	202779632	G	T	upstream	PCAT6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	-	ICGC,
chr11	103271563	103271563	C	T	intronic	DYNC2H1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	mortality/aging	Short rib-polydactyly syndrome, type 3|Short rib-polydactyly syndrome, Majewski type|Short rib-polydactyly syndrome|Asphyxiating thoracic dystrophy	ICGC,
chr8	113134866	113134866	-	TAATG	intergenic	NONE,CSMD3	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|3|67|0.04478	-	-	-,-	-,Schizophrenia  |Colorectal cancer 	ICGC,
chr6	30807623	30807623	C	A	intergenic	IER3,DDR1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	hematopoietic system phenotype,integument phenotype	-,Schizophrenia, association with	ICGC,
chr5	28408841	28408841	T	C	intergenic	LINC01021,LSP1P3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr13	61823989	61823989	T	C	intergenic	MIR3169,PCDH20	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	ICGC,
chr12	27251718	27251718	C	T	intergenic	C12orf71,STK38L	unknown	SNV	-	-	-	0.2313	rs4964037	-	0.201877	-	0.362	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,Schizophrenia	ICGC,
chr7	88928334	88928334	C	A	intronic	ZNF804B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21247068	-	BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr2	96913632	96913632	G	C	intergenic	STARD7-AS1,TMEM127	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24280194	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	-,-	-,Renal cell carcinoma|Phaeochromocytoma |Paraganglioma.|Paraganglioma   |Extraadrenal paraganglial tumours	COSMIC,COSMIC,ICGC,
chr12	7367316	7367320	AATAA	-	intronic	PEX5	unknown	deletion	-	-	-	0.0026	rs749190694	-	0.00319489	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging	Adrenoleukodystrophy|Peroxisome biogenesis disorder|Refsum disease, infantile	ICGC,
chr1	183143519	183143519	CC	TT	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr4	21635513	21635513	T	G	intronic	KCNIP4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	Renal cell carcinoma 	ICGC,
chr19	32105593	32105593	G	T	intergenic	THEG5,CTC-360P9.3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr2	62179603	62179603	C	T	intronic	COMMD1	unknown	SNV	-	-	-	-	rs538782591	-	0.000199681	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	mortality/aging	Elevated urinary copper 	ICGC,
chr4	31152768	31152768	A	G	intergenic	PCDH7,NONE	unknown	SNV	-	-	-	0.0356	rs61795384	-	0.057508	-	0.036	-	-	LAML-KR|1|205|0.00488	-	-	-,-	-,-	ICGC,
chr7	118888307	118888307	T	A	intergenic	ANKRD7,KCND2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17254047	-	PACA-CA|1|268|0.00373	-	-	-,integument phenotype	-,Epilepsy, temporal lobe	COSMIC,ICGC,
chr12	71545134	71545134	C	T	intronic	TSPAN8	unknown	SNV	-	-	-	0.0002	rs180823120	-	0.000399361	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	-	ICGC,
chr19	13519429	13519429	A	T	intronic	CACNA1A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9348182	-	OV-AU|1|93|0.01075	-	-	integument phenotype	Hemiplegic migraine with cerebellar signs|Hemiplegic migraine, cerebellar dysfunction & cognitive decline|Hemiplegic migraine, coma, cerebellar atrophy|Hemiplegic migraine, coma, cerebellar atrophy.|Hemiplegic migraine, progressive cerebellar ataxia|Hemiplegic migraine/alternating hemiplegia of childhood|Hyperinsulism ?|Ischemic stroke|Mental retardation & epilepsy with infantile spasms|Migraine.|Nystagmus and late-onset ataxia|Paroxysmal head tremor, adult-onset|Progressive cerebellar ataxia|Reduced function   |Spinocerebellar ataxia 6|Hemiplegic migraine with acute striatal necrosis.|Hemiplegic migraine type 1|Altered function|Ataxia, mental retardation and dyskinesia|Benign paroxysmal torticollis of infancy.|Cerebellar ataxia  |Cerebellar ataxia.|Cerebellar atrophy, early-onset|Epilepsy, idiopathic|Episodic ataxia|Episodic ataxia 2|Episodic seizures, ataxia, and migraine with motor regression|Head tremor|Hemiconvulsion-hemiplegia-epilepsy syndrome|Hemiplegic migraine|Hemiplegic migraine and ataxia|Hemiplegic migraine and episodic ataxia 2	COSMIC,ICGC,
chr6	57874380	57874380	C	T	intergenic	PRIM2,GUSBP4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,-	Potential protein deficiency,-	ICGC,
chr2	52033617	52033617	C	T	intergenic	NRXN1,ASB3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Hypotonia|Hypotonia & encephalopathy|Increased white matter volume, association with|Intellectual disability  |Intellectual disability & attention deficit hyperactivity disorder|Intellectual disability & hearing loss|Intellectual disability & pervasive developmental disorder|Intellectual disability and autism|Intellectual disability, nonsyndromic |Intellectual disability, seizures, dysmorphisms & language delay|Growth retardation  |Epilepsy, myoclonic seizures & speech delay|Developmental disorder|Developmental disorder & attention deficit hyperactivity disorder|Developmental disorder, seizures & attention deficit hyperactivity disorder|Developmental/intellectual disability, hypotonia & dysmorphic features|Disorder of muscle, ligament & fascia|Encephalopathy  |Epilepsy  |Epilepsy with cognitive impairment / autism spectrum disorder|Epilepsy with focal seizures|Epilepsy, generalised |Intellectual disability, seizures, language delay & hypotonia|Language delay|Learning difficulties|Respiratory distress & sepsis|Respiratory distress syndrome|Schizophrenia |Schizophrenia, childhood onset |Schizophrenia, disorganised type|Seizures, generalized tonic-clonic & attention deficit hyperactivity disorder|Sensory integration disorder & attention deficit hyperactivity disorder|Speech delay & social communication difficulties|Tourette syndrome|Pervasive developmental disorder / hypotonia|Pervasive developmental disorder|Pervasive developmental delay / mental retardation, lack of coordination & hearing loss|Learning difficulties, ADHD & autism|Mental retardation|Mental retardation, autism, vertebral malformations|Mental retardation, Pitt-Hopkins-like|Microcephaly & mental retardation|Multiple congenital anomalies  |Multiple disabilities|Myoclonic epilepsy   |Neurodevelopmental disorder  |Vertebral anomalies|Developmental delay, speech delay & social communication difficulties|Attention deficit hyperactivity disorder |Autism spectrum disorder, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability & language delay|Autism spectrum disorder, intellectual disability, dysmorphisms, developmental delay & language delay|Autism spectrum disorder, intellectual disability, seizures & developmental delay|Autism spectrum disorder, intellectual disability, seizures, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability, seizures, dysmorphisms & language delay|Autism spectrum disorder, seizures, developmental delay & language delay|Autism, intellectual disability & attention deficit hyperactivity disorder|Autistic disorder|Autism spectrum disorder with developmental & speech delay|Autism spectrum disorder & seizures|Autism spectrum disorder & language delay|Autism |Autism & learning difficulties|Autism & mental retardation|Autism & seizures|Autism spectrum disorder|Autism spectrum disorder & attention deficit hyperactivity disorder|Autism spectrum disorder & developmental delay|Autism spectrum disorder & dysmorphic features|Autism spectrum disorder & intellectual disability|Behavioural problems|Congenital heart defect  |Craniofacial dysmorphism|Developmental delay & speech/motor delay|Developmental delay with early-onset epilepsy|Developmental delay, dysmorphic features & short stature|Developmental delay, epilepsy, autism|Developmental delay, language delay & hypotonia|Developmental delay, learning difficulties, ADHD|Developmental delay, microcephaly & behavioural problems|Developmental delay, pulmonic stenosis & autism spectrum disorder|Developmental delay, short stature and diaphragmatic hernia|Developmental delay, speech delay & microcephaly|Developmental delay & seizures|Developmental delay & seizure disorder|Cystic hygroma, hydrops & micrognathia|Cystic hygroma, shortened upper limbs & fetal demise|Developmental & speech delay|Developmental delay|Developmental delay / autism|Developmental delay & autism|Developmental delay & dysmorphic features|Developmental delay & epilepsy|Developmental delay & hypotonia|Developmental delay & multiple congenital anomalies,-	ICGC,
chr4	96152740	96152740	T	C	intronic	UNC5C	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8379303	-	MALY-DE|1|241|0.00415	-	-	mortality/aging	Colorectal cancer  |Reduced proapoptotic activity	COSMIC,ICGC,
chr14	43277465	43277465	A	-	intergenic	LRFN5,FSCB	unknown	deletion	-	-	-	-	-	-	-	-	-	COSN23508181	-	ESAD-UK|1|301|0.00332	-	-	-,-	Short stature|Developmental delay, seizures & learning problems ,Tourette syndrome 	COSMIC,ICGC,
chr8	145525070	145525070	C	G	intronic	HSF1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	integument phenotype	-	ICGC,
chr9	20532441	20532441	T	C	intronic	MLLT3	unknown	SNV	-	-	-	0.0002	rs761451293	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	mortality/aging	Neuromotor dev. delay, cerebellar ataxia, epilepsy	ICGC,
chr7	54042606	54042606	G	A	intergenic	LINC01446,HPVC1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr9	90638418	90638418	C	G	intergenic	CDK20,SPATA31C2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	ICGC,
chr7	112668838	112668838	G	A	intergenic	LOC101928036,GPR85	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,behavior/neurological phenotype	-,-	ICGC,
chr3	85590318	85590318	A	G	intronic	CADM2	unknown	SNV	-	-	-	0.0302	rs138484317	-	0.0543131	-	-	-	-	LAML-KR|1|205|0.00488	-	-	-	-	ICGC,
chr16	9637848	9637848	C	T	intergenic	MIR548X,MIR7641-2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr12	67132669	67132669	C	T	intergenic	GRIP1,LOC102724421	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	integument phenotype,-	Autism|Fraser syndrome|Schizophrenia and epilepsy,-	ICGC,
chr6	47006586	47006586	C	T	intronic	GPR110	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	-	ICGC,
chr1	175525863	175525863	G	A	intronic	TNR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	nervous system phenotype	Schizophrenia, association with  |Intellectual disability  	ICGC,
chr9	124276999	124276999	C	A	intergenic	GGTA1P,DAB2IP	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	hematopoietic system phenotype,cellular phenotype	-,Breast cancer, increased risk  	ICGC,
chr5	25130086	25130086	A	C	intergenic	LOC340107,CDH9	unknown	SNV	-	-	-	3.234e-05	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr14	28930667	28930667	A	G	intergenic	LINC00645,FOXG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,integument phenotype	-,West syndrome |Rett-like syndrome|Rett syndrome|Refractory epilepsy & intellectual impairment|Microcephaly, mental retardation & thin genu of corpus callosum|Mental retardation, speech impairment & epilepsy|Mental retardation & speech impairment|Mental retardation & postnatal microcephaly|Mental retardation & callosum abnormalities|Mental retardation|Infantile spasms|Hemifacial microsomia|Generalized dystonia, athetosis and parkinsonism|Developmental delay, microcephaly & hypoplasia of the corpus callosum|Developmental delay, hypotonia, microcephaly & infantile spasms|Developmental delay & slow head growth|Agenesis of corpus callosum	ICGC,
chr16	11350134	11350134	C	T	upstream	SOCS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Total serum IgE levels, association with|Reduced BMI, association with|Adult asthma, association with	ICGC,
chr3	148564257	148564257	G	C	intronic	CPB1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	-	ICGC,
chr5	24084269	24084269	T	G	intergenic	PRDM9,CDH10	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15907223	-	PACA-CA|1|268|0.00373	-	-	reproductive system phenotype,-	Altered meiotic recombination hotspot usage|Azoospermia by meiotic arrest, association with |Azoospermia, non-obstructive ,-	COSMIC,ICGC,
chr1	86043614	86043614	A	C	intronic	DDAH1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26227145	-	PRAD-UK|1|140|0.00714	-	-	mortality/aging	Thrombosis, stroke and CHD, increased risk, association with	COSMIC,ICGC,
chr13	62706309	62706309	T	A	intergenic	LINC00358,LINC00448	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7410041	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	COSMIC,ICGC,
chr11	63035113	63035113	G	T	ncRNA_intronic	MIR3680-1,MIR3680-2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr15	54065871	54065871	T	G	intergenic	WDR72,UNC13C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,behavior/neurological phenotype	Amelogenesis imperfecta|Hypomaturation amelogenesis imperfecta,Developmental delay  	ICGC,
chrX	146605390	146605391	AA	-	intergenic	MIR514A3,FMR1-AS1	unknown	deletion	-	-	-	0	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-,-	-,-	ICGC,
chr5	143022232	143022232	C	T	intergenic	NR3C1,MIR5197	unknown	SNV	-	-	-	6.46e-05	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	integument phenotype,-	Polycythemia vera, association with|Primary myelofibrosis, susceptibility to|Recurrent major depression|Reduced insulin and cholesterol levels, association|Reduced promoter activity|Reduced protein expression|Reduced transcriptional activity|Rheumatoid arthritis, association with|Rheumatoid arthritis, erosive, association with|Rheumatoid arthritis, lower risk|Systemic lupus erythematosus, association with |Multiple sclerosis severity, association with|Maternal stress, association with|Lupus nephritis|Altered glucocorticoid sensitivity|Blood pressure|Bronchial asthma, association with|Depression, association with|Depression, with childhood adversity, association with.|Diabetes, type 2, decreased risk in Cushing's syndrome|Diamond Blackfan Anaemia, association with |Glucocorticoid receptor deficiency|Glucocorticoid resistance|Increased glucocorticoid sensitivity|Lower BMI & waist circumference, association with,-	ICGC,
chr6	121649789	121649789	C	A	intronic	TBC1D32	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8792776	-	ESAD-UK|1|301|0.00332	-	-	-	Oro-facio-digital syndrome type IX	COSMIC,ICGC,
chr2	151738667	151738667	A	T	intergenic	LOC101929282,RBM43	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8760740	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,Autism spectrum disorder	COSMIC,ICGC,
chr12	48543774	48543774	G	A	exonic	ASB8	nonsynonymous	SNV	0.005	0.996	-	-	-	-	-	-	-	COSM5739630	-	-	-	-	-	-	COSMIC,
chr11	85805414	85805414	C	T	intergenic	PICALM,EED	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,integument phenotype	Immunodeficiency, common variable  |Colorectal cancer |Cognitive function in the oldest old, association with|Alzheimer disease, association with,Ulcerative colitis, susceptibility to	ICGC,
chr6	81609462	81609462	A	G	intergenic	BCKDHB,FAM46A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	Maple syrup urine disease,Tuberculosis, susceptibility to 	ICGC,
chr2	201412607	201412607	C	G	intronic	SGOL2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	reproductive system phenotype	-	ICGC,
chr16	5611577	5611577	G	A	intergenic	FAM86A,LOC101926950	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr6	74689199	74689199	A	G	intergenic	CD109,LOC101928516	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,-	Gov platelet antigen variation,-	ICGC,
chr9	75223038	75223038	T	-	intronic	TMC1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	integument phenotype	Nonsyndromic deafness, autosomal recessive|Hearing loss.|Hearing loss, nonsyndromic, autosomal recessive|Hearing loss|DFNB7/B11 deafness|DFNA36 hearing loss, association with|Deafness, non-syndromic, autosomal recessive|Deafness, non-syndromic, autosomal dominant|Deafness, non-syndromic |Deafness	ICGC,
chr15	69440252	69440252	C	T	ncRNA_intronic	MIR548H4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr4	43507199	43507199	C	T	intergenic	GRXCR1,KCTD8	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5571423	-	LIRI-JP|1|258|0.00388	-	-	behavior/neurological phenotype,-	Hearing impairment, nonsyndromic, autosomal recessive,-	COSMIC,ICGC,
chr10	105139368	105139368	T	-	exonic	TAF5	frameshift	deletion	-	-	-	-	-	-	-	-	-	-	COAD|1|367|0.00272,COADREAD|1|489|0.00204	GACA-JP|1|585|0.00171	-	-	-	-	TCGA,ICGC,
chr1	105150343	105150343	G	A	intergenic	LOC100129138,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,-	-,-	ICGC,
chr21	21970908	21970908	A	T	intergenic	LOC101927797,LINC00320	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN10022972	-	RECA-EU|1|422|0.00237	-	-	-,-	-,-	COSMIC,ICGC,
chr16	65806017	65806017	G	A	intergenic	LINC00922,CDH5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Autism|Haemorrhagic fever with renal syndrome, reduced severity, association with|Schizophrenia	ICGC,
chr2	46737785	46737785	A	T	intergenic	TMEM247,ATP6V1E2	unknown	SNV	-	-	-	0.0006	rs552621238	-	0.000599042	-	-	-	-	LAML-KR|1|205|0.00488	-	-	-,-	-,-	ICGC,
chr10	86231073	86231073	T	C	intronic	CCSER2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-AU|1|391|0.00256	-	-	-	-	ICGC,
chr2	84513189	84513189	C	T	intergenic	LOC1720,FUNDC2P2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr1	248288118	248288118	T	G	intergenic	OR2M1P,OR2M5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr5	29386414	29386414	A	G	ncRNA_intronic	LOC101929681	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr9	30275306	30275306	G	A	intergenic	LINGO2,LINC01242	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Autism spectrum disorder  |Developmental delay with absent speech,-	ICGC,
chr5	13951622	13951622	C	T	intergenic	DNAH5,TRIO	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging,mortality/aging	Asthenozoospermia |Autism |Chronic rhinosinusitis and primary ciliary dyskinesia|Potential protein deficiency|Primary ciliary dyskinesia,Autism|Intellectual disability	ICGC,
chr9	139873466	139873466	G	A	exonic	PTGDS	nonsynonymous	SNV	0.078	0.033	4.188e-06	-	-	-	-	-	-	-	LUAD|1|543|0.00184	-	-	-	integument phenotype	HDL cholesterol, association with 	TCGA,
chr1	39053591	39053591	A	C	intergenic	LINC01343,RRAGC	unknown	SNV	-	-	-	-	rs77448013	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr5	10852345	10852345	A	G	intergenic	DAP,CTNND2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,behavior/neurological phenotype	-,Schizophrenia  |Lennox-Gastaut syndrome |Autism spectrum disorder|Anorectal malformation|Altered localisation	ICGC,
chr9	101828842	101828842	C	T	intronic	COL15A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	cardiovascular system phenotype	Phenotype modifier, early-onset glaucoma|Schizophrenia	ICGC,
chr14	88117248	88117248	T	C	intergenic	LOC283585,GALC	unknown	SNV	-	-	-	3.228e-05	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,mortality/aging	-,Krabbe disease, association with|Krabbe disease|Glaucoma, primary open-angle|Glaucoma, primary open angle	ICGC,
chr17	60650985	60650985	C	T	intronic	TLK2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN18837966	-	-	-	-	-	Schizophrenia  	COSMIC,
chr14	32508833	32508833	A	C	intergenic	NUBPL,ARHGAP5-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7227137	-	PACA-AU|1|391|0.00256	-	-	-,-	Progressive nystagmus, cerebellar ataxia, pyramidal signs & slurred speech|Complex I deficiency,-	COSMIC,ICGC,
chr5	130667268	130667268	T	-	intronic	CDC42SE2	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	-	ICGC,
chr2	10922484	10922484	G	T	exonic	ATP6V1C2	nonsynonymous	SNV	0.249	0.747	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr5	63845840	63845840	A	C	intronic	RGS7BP	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22951527	-	PAEN-IT|1|37|0.02703	-	-	behavior/neurological phenotype	-	COSMIC,COSMIC,ICGC,
chr14	75845567	75845567	G	A	intergenic	LINC01220,JDP2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5390050	-	LIRI-JP|1|258|0.00388	-	-	-,integument phenotype	-,-	COSMIC,ICGC,
chr1	119939360	119939360	G	A	intergenic	HAO2,HSD3B2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,3 beta-hydroxysteroid dehydrogenase deficiency|Adrenal hyperplasia|Idiopathic hypospadias|Pseudohermaphroditism	ICGC,
chr2	172441741	172441741	T	C	intergenic	CYBRD1,DYNC1I2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6154377	-	LIRI-JP|1|258|0.00388	-	-	homeostasis/metabolism phenotype,mortality/aging	Haemochromatosis, phenotype modifier, association with|Iron overload,-	COSMIC,ICGC,
chr11	82122156	82122156	G	A	intergenic	LOC101928989,FAM181B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	193611760	193611760	G	A	intergenic	TMEFF2,PCGEM1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17085510	-	-	-	-	mortality/aging,-	-,-	COSMIC,
chr13	83943552	83943552	G	T	intergenic	NONE,SLITRK1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8423040	-	OV-AU|1|93|0.01075	-	-	-,mortality/aging	-,Trichotillomania|Tourette syndrome|Obsessive-compulsive disorder |Attention deficit hyperactivity disorder 	COSMIC,ICGC,
chr14	39870169	39870193	TAACAGGGAAGCTGGAGCAGAACAC	-	intronic	FBXO33	unknown	deletion	-	-	-	-	-	-	-	-	-	COSN27665971	-	NKTL-SG|1|50|0.02000	-	-	-	-	COSMIC,ICGC,
chr17	7358392	7358392	G	C	intronic	CHRNB1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	nervous system phenotype	Slow channel myasthenic syndrome|Pterygium syndrome, Escobar variant|Congenital myasthenic syndrome	ICGC,
chr9	23660340	23660349	AATACTCTTG	-	ncRNA_intronic	LOC101929563	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr2	122610973	122610991	CTTTCTCTTTCCTTCCTTC	-	intergenic	TSN,NONE	unknown	deletion	-	-	-	0.0028	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	hematopoietic system phenotype,-	-,-	ICGC,
chrX	2778057	2778057	T	C	exonic	GYG2	nonsynonymous	SNV	0.005	0.999	-	-	-	-	-	-	-	COSM6417650	-	THCA-CN|1|50|0.02000	-	-	-	Autism spectrum disorder|Leigh syndrome, atypical	COSMIC,ICGC,
chr5	90171699	90171699	C	A	intronic	GPR98	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5613646	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging	Usher syndrome 3|Usher syndrome 2|Usher syndrome 1|Usher syndrome|Retinitis pigmentosa|Hearing loss, progressive  |Febrile and afebrile seizures|Deafness, non-syndromic|Deafness  |Autism	COSMIC,ICGC,
chr4	171016810	171016810	G	A	intergenic	AADAT,LOC100506122	unknown	SNV	-	-	-	9.682e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	vision/eye phenotype,-	-,-	ICGC,
chr6	67040837	67040837	T	C	intergenic	SLC25A51P1,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6328256	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr1	58216242	58216242	A	G	intronic	DAB1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Syndromic cleft lip & palate	ICGC,
chrX	46842783	46842783	C	G	intronic	JADE3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22168300	-	BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr6	102627798	102627798	G	A	intergenic	GRIK2,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,-	Mental retardation, non-syndromic, autosomal recessive,-	ICGC,
chr9	111618088	111618088	C	T	exonic	ACTL7B	nonsynonymous	SNV	0.077	0.0	-	-	-	-	-	-	-	COSM6114461	LUAD|4|543|0.00737	-	-	-	-	Schizophrenia	COSMIC,TCGA,
chr1	162995191	162995191	C	T	intergenic	C1orf110,RGS4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,integument phenotype	-,-	ICGC,
chr15	58235986	58235986	G	T	intergenic	GCOM1,ALDH1A2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16277516	-	PRAD-CA|1|308|0.00325	-	-	-,mortality/aging	-,Pentalogy of Cantrell|Tetralogy of Fallot	COSMIC,ICGC,
chr2	165190729	165190729	T	A	intergenic	FIGN,GRB14	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20852035	-	BRCA-EU|1|569|0.00176	-	-	integument phenotype,hematopoietic system phenotype	-,-	COSMIC,ICGC,
chrX	93677221	93677221	T	A	intergenic	FAM133A,LOC643486	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16025218	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	COSMIC,COSMIC,ICGC,
chr10	10579805	10579805	C	T	intergenic	LOC101928322,SFTA1P	unknown	SNV	-	-	-	9.692e-05	rs760986344	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr7	52477754	52477754	G	A	intergenic	COBL,POM121L12	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	nervous system phenotype,-	-,-	ICGC,
chr15	43247844	43247844	T	A	intronic	UBR1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25503885	-	MALY-DE|1|241|0.00415	-	-	mortality/aging	Johanson-Blizzard syndrome	COSMIC,ICGC,
chr12	18278263	18278263	G	A	intergenic	RERGL,PIK3C2G	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|3|183|0.01639	-	-	-,-	Colorectal cancer ,Diabetes, type 2, association with	ICGC,
chr20	41226258	41226258	G	A	intronic	PTPRT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	homeostasis/metabolism phenotype	Intellectual disability, behavioural problems, microcephaly & cardiac defect|Attention deficit hyperactivity disorder 	ICGC,
chr14	30709999	30709999	T	C	intergenic	PRKD1,G2E3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9612177	-	RECA-EU|1|422|0.00237	-	-	mortality/aging,mortality/aging	Autism spectrum disorder|Mental retardation and microcephaly|Obesity ,-	COSMIC,ICGC,
chr9	32409442	32409442	-	A	intronic	ACO1	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN14735877	-	-	-	-	mortality/aging	Schizophrenia	COSMIC,
chr18	65283413	65283413	G	A	ncRNA_intronic	LOC643542	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr15	70177576	70177576	C	T	intergenic	LINC00593,TLE3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27080578	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,-	COSMIC,ICGC,
chr9	105811705	105811705	G	T	intergenic	CYLC2,LOC101928496	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26706458	-	BRCA-FR|1|72|0.01389	-	-	-,-	Potential protein deficiency,-	COSMIC,ICGC,
chr4	146875765	146875765	-	A	intergenic	ZNF827,LINC01095	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	ICGC,
chr14	23235433	23235433	C	A	upstream	OXA1L	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chrX	137023086	137023086	A	G	intergenic	ZIC3,LINC00889	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,-	Situs abnormality|Heterotaxy|Congenital heart disease |Cardiac malformation,-	ICGC,
chrX	124289954	124289954	C	T	intergenic	TENM1,LOC100129520	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Schizophrenia  ,-	ICGC,
chr9	124298803	124298803	C	T	intergenic	GGTA1P,DAB2IP	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype,cellular phenotype	-,Breast cancer, increased risk  	ICGC,
chr3	124382366	124382366	C	T	intronic	KALRN	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	Potential protein deficiency|Schizophrenia, association with  	ICGC,
chr4	61771207	61771207	T	A	intergenic	NONE,LPHN3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6837843	-	LIRI-JP|1|258|0.00388	-	-	-,behavior/neurological phenotype	-,-	COSMIC,ICGC,
chr18	65308147	65308147	G	A	ncRNA_intronic	LOC643542	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-	-	ICGC,
chrX	127788562	127788562	T	G	intergenic	ACTRT1,SMARCA1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,behavior/neurological phenotype	-,-	ICGC,
chr4	27386483	27386483	C	T	intergenic	STIM2,MIR4275	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype,-	-,-	ICGC,
chr5	74448674	74448674	A	G	intronic	ANKRD31	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	-	-	ICGC,
chr6	142927789	142927789	G	A	ncRNA_intronic	LOC153910	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2144882	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr17	73042721	73042721	C	A	intronic	ATP5H	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21453526	-	BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr7	39934637	39934637	G	T	intergenic	LINC00265,CDK13	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	ICGC,
chr7	109152875	109152875	A	G	intergenic	C7orf66,EIF3IP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	ICGC,
chr4	119936901	119936901	C	T	intronic	SYNPO2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	-	ICGC,
chr13	72599415	72599415	C	T	intergenic	DACH1,MZT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	mortality/aging,-	Renal hypodysplasia,-	ICGC,
chr5	2815981	2815981	G	A	intergenic	C5orf38,LINC01377	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	1582924	1582924	C	G	intergenic	TPO,PXDN	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	mortality/aging,-	Total iodide organification defect|Thyroid peroxidase deficiency|Thyroid dyshormonogenesis|Partial iodide organification defect|Intellectual disability  |Hypothyroidism.|Hypothyroidism, association with |Hypothyroidism|Goitrous hypothyroidism.|Goitrous hypothyroidism|Goitre|Foetal hyperthyroidism,Cataract-microcornea with corneal opacity	ICGC,
chr8	136421450	136421450	T	C	intergenic	LOC286094,KHDRBS3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21132319	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr6	152631059	152631059	T	C	exonic	SYNE1	nonsynonymous	SNV	0.178	0.002	-	-	-	-	-	-	-	COSM3781593	-	PACA-AU|1|391|0.00256	-	-	mortality/aging	Schizophrenia|Muscular dystrophy, Emery-Dreifuss|Intellectual disability, spastic paraplegia, axon neuropathy & leukoencephalopathy|Cerebellar ataxia|Cardiomyopathy, dilated|Autism spectrum disorder|Autism|Arthrogryposis multiplex congenita with axoglial defects|Arthrogryposis 	COSMIC,COSMIC,COSMIC,COSMIC,COSMIC,ICGC,
chr9	66772254	66772254	A	G	intergenic	LOC403323,LOC101928381	unknown	SNV	-	-	-	0.0045	rs111398489	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-,-	-,-	ICGC,
chr7	150438169	150438169	C	A	intronic	GIMAP1-GIMAP5,GIMAP5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9976883	-	OV-AU|1|93|0.01075	-	-	-,mortality/aging	-,-	COSMIC,ICGC,
chr4	158170723	158170723	G	A	intronic	GRIA2	unknown	SNV	-	-	-	-	rs533659228	-	0.000199681	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Intellectual disability  	ICGC,
chr16	30014961	30014961	C	T	intronic	INO80E	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9645449	-	RECA-EU|1|422|0.00237	-	-	-	-	COSMIC,ICGC,
chr11	101249038	101249038	A	G	intergenic	LOC101054525,TRPC6	unknown	SNV	-	-	-	0.0001	rs552050889	-	0.000199681	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,integument phenotype	-,Steroid resistant nephrotic syndrome, association with|Pyloric stenosis, infantile hypertrophic, association with|Pulmonary arterial hypertension, association with|Podocytopathy|Nephrotic syndrome, steroid resistant |Focal segmental glomerulosclerosis |Collapsing glomerulosclerosis	ICGC,
chr5	124253823	124253823	-	TTTTT	intergenic	ZNF608,LOC101927421	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr17	32176872	32176872	G	A	intronic	ASIC2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	taste/olfaction phenotype	Dyslexia 	ICGC,
chr6	152317850	152317850	C	T	intronic	ESR1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Osteoporosis|Oestrogen resistance|Lower femoral neck BMD, association with|Left ventricular hypertrophy, association with |Ischaemic stroke, association with.|Osteoporosis, association with|Plasma lipid levels, association with|Precocious puberty|Prostate cancer, association with|Reduced plasma B-type natriuretic peptide levels, association|Reduced spermatogenesis in infertile men, association|Systemic lupus erythematosus, risk, association with |Thyroid cancer, tumour status, association with|Infertility, male, association with|Increased HDL cholesterol, association with|Altered endothelial fibrinolytic regulation|Altered gene expression|Altered splicing |Altered transcriptional regulation |Alzheimer disease in women, increased risk|Breast cancer  |Breast cancer in women of 50 years or younger, association with|Breast cancer, association with |Castration-resistant prostate cancer, association|Cleft lip and palate |Endometrial cancer risk, association with|Hepatitis  B virus-related liver cirrhosis, association with|Increased HDL cholesterol after HRT, association with	ICGC,
chr4	53115307	53115307	G	T	intergenic	SPATA18,USP46	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26280958	-	PRAD-UK|1|140|0.00714	-	-	-,behavior/neurological phenotype	-,Autism 	COSMIC,ICGC,
chr14	78234776	78234776	T	A	intronic	C14orf178	unknown	SNV	-	-	8.591e-06	-	rs536535020	-	0.000199681	-	-	COSN8850569	-	OV-AU|1|93|0.01075	-	-	-	-	COSMIC,ICGC,
chr8	73274618	73274618	G	A	intergenic	LOC392232,KCNB2	unknown	SNV	-	-	-	6.464e-05	rs534953746	-	-	-	0.007	COSN8099717	-	PACA-AU|1|391|0.00256	-	-	-,behavior/neurological phenotype	-,Tetralogy of Fallot	COSMIC,COSMIC,ICGC,
chr12	33485626	33485626	A	G	intergenic	PKP2,SYT10	unknown	SNV	-	-	-	3.23e-05	-	-	-	-	-	COSN14539390	-	PACA-AU|1|391|0.00256	-	-	mortality/aging,behavior/neurological phenotype	Sudden cardiac death  |Potential protein deficiency|Cardiomyopathy, dilated|Cardiomyopathy, arrhythmogenic, left-dominant|Cardiomyopathy, arrhythmogenic right ventricular|Brugada syndrome    |Arrhythmogenic right ventricular dysplasia/cardiomyopathy.|Arrhythmogenic right ventricular dysplasia/cardiomyopathy|Arrhythmogenic right ventricular dysplasia|Arrhythmogenic right ventricular cardiomyopathy.|Arrhythmogenic right ventricular cardiomyopathy, asymptomatic|Arrhythmogenic right ventricular cardiomyopathy|Sudden unexpected death with negative autopsy,-	COSMIC,ICGC,
chr6	102352737	102352737	G	C	intronic	GRIK2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5081436	-	LINC-JP|1|394|0.00254	-	-	behavior/neurological phenotype	Mental retardation, non-syndromic, autosomal recessive	COSMIC,ICGC,
chr7	46104452	46104452	C	T	intergenic	IGFBP3,TNS3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,mortality/aging	Prostate cancer, increased risk|Plasma IGFBP-3 levels, association with|Pancreatic cancer, clinical outcome, association with|Lung cancer, increased risk, association with|Increased IGFBP-3 levels, association with|IGFBP-3 levels|Higher promoter activity, association with|Drug response, association with|Decreased IGFBP-3 levels, association with|Colorectal cancer, association with,Renal agenesis, pulmonary infections & growth/developmental delay	ICGC,
chr9	30513710	30513710	A	G	intergenic	LINC01242,ACO1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24588597	-	GACA-CN|1|123|0.00813	-	-	-,mortality/aging	-,Schizophrenia	COSMIC,ICGC,
chrX	152773188	152773188	C	T	intronic	BGN	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Reduced transcriptional activity	ICGC,
chr12	119169856	119169856	C	T	intergenic	SUDS3,SRRM4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,-	-,-	ICGC,
chr10	27553855	27553855	G	A	intergenic	LRRC37A6P,PTCHD3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,Potential protein deficiency|Null allele|Colorectal cancer?|Colorectal cancer|Autism spectrum disorder	ICGC,
chr5	32851271	32851271	A	-	intergenic	NPR3,LOC340113	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Diastolic dysfunction, association with|Lower ANP in obese hypertensives, association |Reduced protein expression,-	ICGC,
chr5	51885143	51885143	C	T	intergenic	ISL1,PELO	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype,mortality/aging	Cardiomyopathy, dilated|Diabetes, type 2|Intellectual and developmental disabilities,-	ICGC,
chr8	56412878	56412878	A	T	intronic	XKR4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	Glaucoma, primary congenital	ICGC,
chr15	81630996	81630996	A	T	exonic	TMC3	nonsynonymous	SNV	0.015	0.356	-	-	-	-	-	-	-	COSM6847443	-	-	-	-	-	Autism spectrum disorder	COSMIC,
chr9	102712244	102712244	-	TACACA	intronic	STX17	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	-	ICGC,
chr7	86793773	86793773	G	C	intronic	DMTF1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	integument phenotype	-	ICGC,
chr7	84262379	84262379	C	T	intergenic	LOC101927378,SEMA3D	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Total anomalous pulmonary venous connection|Tetralogy of Fallot|Hirschsprung disease   	ICGC,
chr3	51392111	51392111	C	T	intronic	DOCK3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	immune system phenotype	Attention deficit hyperactivity disorder	ICGC,
chr9	33406855	33406855	C	A	intergenic	AQP7,AQP3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	reproductive system phenotype,mortality/aging	Obesity, association with|No exercise induced glycerol increase, association|Hyperglyceroluria, association with,Aquaporin 3 deficiency	ICGC,
chr6	103931469	103931469	C	T	intergenic	GRIK2,HACE1	unknown	SNV	-	-	-	3.25e-05	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	behavior/neurological phenotype,tumorigenesis	Mental retardation, non-syndromic, autosomal recessive,Wilms tumour 	ICGC,
chr4	177523604	177523604	C	T	intergenic	SPCS3,VEGFC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,Lymphoedema, primary, Milroy-like	ICGC,
chr4	81765794	81765794	G	T	intronic	C4orf22	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21757739	-	BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr22	19734090	19734090	G	T	intergenic	SEPT5-GP1BB,TBX1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	-,Ventricular septal defect, association with|Ventricular septal defect|Velocardiofacial syndrome|Tetralogy of Fallot|Pulmonary atresia  |Orofacial clefting |Midline facial defects with hypertelorism |Indirect inguinal hernia|Immunodeficiency, common variable, association with|DiGeorge syndrome/Velocardiofacial syndrome|DiGeorge syndrome|Conotruncal anomaly face syndrome|Cardiovascular defects|Atrioventricular septal defect|22q11.2 deletion syndrome features	ICGC,
chr13	76408707	76408707	C	T	intronic	LMO7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	-	ICGC,
chr1	82495706	82495706	T	G	intergenic	LPHN2,LINC01361	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	mortality/aging,-	Schizophrenia,-	ICGC,
chr8	106425929	106425929	G	A	intronic	ZFPM2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Atrial septal defect & gonadal dysgenesis|Diaphragmatic hernia, congenital|Double outlet right ventricle |Gonadal dysgenesis |Reduced activity|Tetralogy of Fallot 	ICGC,
chr18	59314490	59314490	G	A	intergenic	CDH20,LOC100996669	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr15	38435607	38435607	C	G	intergenic	LOC101928227,SPRED1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,hematopoietic system phenotype	-,Cafe-au-lait macules|Legius syndrome|Neurofibromatosis 1-like syndrome	ICGC,
chr14	22480718	22480718	A	T	intergenic	OR4E2,DAD1	unknown	SNV	-	-	-	0.5345	rs2204961	-	0.423722	-	0.406	-	-	LAML-KR|1|205|0.00488,LUSC-KR|3|170|0.01765	-	-	-,mortality/aging	-,-	ICGC,
chr12	19437599	19437599	G	T	intronic	PLEKHA5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	OV-AU|1|93|0.01075	-	-	reproductive system phenotype	-	ICGC,
chr5	106763471	106763471	T	A	intronic	EFNA5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	-	ICGC,
chr3	39970890	39970890	C	T	intronic	MYRIP	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr1	157285336	157285336	C	T	intergenic	ETV3,FCRL5	unknown	SNV	-	-	-	0.0001	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr11	49969282	49969282	G	A	intergenic	LOC440040,OR4C13	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	93640847	93640847	C	A	intronic	TMED5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr1	202533635	202533635	A	T	exonic	PPP1R12B	nonsynonymous	SNV	-	1.0	-	-	-	-	-	-	-	-	-	BTCA-JP|1|239|0.00418	-	-	-	-	ICGC,
chr6	65557940	65557940	C	A	intronic	EYS	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24694188	-	GACA-CN|1|123|0.00813	-	-	-	Cone-rod dystrophy, autosomal recessive.|Leber congenital amaurosis|Retinitis pigmentosa|Retinitis pigmentosa, autosomal recessive |Retinitis pigmentosa, autosomal recessive/Leber congenital amaurosis	COSMIC,ICGC,
chr3	96713802	96713802	C	T	intronic	EPHA6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	Alzheimer disease  	ICGC,
chr13	81421195	81421195	A	T	intergenic	SPRY2,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	mortality/aging,-	Cleft lip ,-	ICGC,
chr16	83101104	83101104	G	A	intronic	CDH13	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Higher adiponectin levels|Amyotrophic lateral sclerosis 	ICGC,
chr8	88103507	88103507	T	A	intronic	CNBD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr14	82243196	82243196	C	T	intergenic	LOC101928559,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr17	62016065	62016065	A	T	UTR3	SCN4A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	mortality/aging	Myotonia, potassium-aggravated|Normokalaemic periodic paralysis|Paralysis periodica paramyotonia|Paramyotonia congenita|Paramyotonia congenita, von Eulenburg|Periodic paralysis|Rhabdomyolysis & weakness|Seizures |Severe neonatal episodic laryngospasm|Myotonia, non-dystrophic|Myotonia congenita with strabismus.|Myotonia & paralytic episodes|Congenital myasthenic syndrome |Episodic laryngospasm, severe neonatal|Hyperkalaemic periodic paralysis|Hyperkalaemic periodic paralysis.|Hypokalaemic periodic paralysis|Impaired slow inactivation|Isolated eyelid closure myotonia|Late onset painful cold-aggravated myotonia|Myotonia	ICGC,
chr7	19116610	19116610	A	G	intergenic	HDAC9,TWIST1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25806570	-	EOPC-DE|1|202|0.00495	-	-	mortality/aging,mortality/aging	Peters' anomaly |Immunodeficiency, common variable, association with  ,Synostotic frontal plagiocephaly|Saethre-Chotzen-like syndrome, intellectual disability & autism|Saethre-Chotzen-like syndrome|Saethre-Chotzen syndrome & hyper IgE syndrome|Saethre-Chotzen syndrome & hand-foot-uterus syndrome|Saethre-Chotzen syndrome|Robinow-Sorauf syndrome|Plagiocephaly |Microcephaly, facial dysmorphism and short stature|Craniosynostosis.|Craniosynostosis|Brachicephaly |Baller-Gerold syndrome	COSMIC,ICGC,
chr7	105305702	105305702	G	A	exonic	ATXN7L1	nonsynonymous	SNV	0.107	0.027	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr1	44998757	44998757	T	C	intronic	RNF220	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6036492	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr4	60361878	60361878	C	T	intergenic	NONE,LPHN3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,behavior/neurological phenotype	-,-	ICGC,
chrX	70692800	70692800	G	A	ncRNA_intronic	BCYRN1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6730259	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr2	56050687	56050687	A	G	intergenic	PNPT1,EFEMP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,integument phenotype	Hearing loss  |Respiratory chain deficiency ,Malattia leventinese	ICGC,
chr15	97186275	97186275	C	T	intergenic	NR2F2,SPATA8-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Whole body insulin sensitivity, association with|Hypoplastic left heart syndrome|Cardiac abnormalities|Atrioventricular septum defects,-	ICGC,
chr17	952112	952112	C	T	intronic	ABR	unknown	SNV	-	-	-	6.459e-05	-	-	-	-	-	COSN26403974	-	PRAD-UK|1|140|0.00714	-	-	mortality/aging	-	COSMIC,ICGC,
chr4	36722527	36722527	-	GGATC	intergenic	DTHD1,MIR4801	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	Leber congenital amaurosis with myopathy,-	ICGC,
chr15	48118577	48118577	T	A	ncRNA_intronic	LOC101928442	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19127041	-	CLLE-ES|1|510|0.00196	-	-	-	-	COSMIC,ICGC,
chr2	70787835	70787835	T	C	intergenic	TGFA,ADD2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25400859	-	MALY-DE|1|241|0.00415	-	-	integument phenotype,hematopoietic system phenotype	-,-	COSMIC,ICGC,
chr2	184808034	184808034	A	C	intergenic	NUP35,ZNF804A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,Neurodevelopmental disease|Reduced cortical gray matter thickness|Schizophrenia and bipolar disorder, association with|Schizophrenia, association with  	ICGC,
chr22	18973072	18973072	G	A	ncRNA_intronic	DGCR5	unknown	SNV	-	-	-	3.239e-05	-	-	-	-	-	COSN15728633	-	LIRI-JP|1|258|0.00388	-	-	-	DiGeorge syndrome	COSMIC,ICGC,
chr4	167780341	167780341	T	C	intronic	SPOCK3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr12	52095855	52095855	C	T	intronic	SCN8A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21035150	-	BRCA-UK|1|141|0.00709,BRCA-EU|1|569|0.00176	-	-	mortality/aging	Intellectual disability, nonsyndromic|Hyperinsulinism|Epileptic encephalopathy, multiple congenital anomalies and movement disorders|Epileptic encephalopathy, infantile|Epileptic encephalopathy |Ataxia	COSMIC,COSMIC,ICGC,
chr6	115841467	115841467	A	C	intergenic	HS3ST5,FRK	unknown	SNV	-	-	-	0.4009	rs11153572	-	0.33726	-	0.355	COSN14935321	-	ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488	-	-	-,homeostasis/metabolism phenotype	-,Potential protein deficiency	COSMIC,ICGC,
chr2	189866280	189866280	G	-	exonic	COL3A1	frameshift	deletion	-	-	-	-	-	-	-	-	-	-	LUAD|1|543|0.00184	-	-	-	integument phenotype	Ehlers-Danlos syndrome, vascular-type|Intracranial aneurysm, association with  |Pelvic organ prolapse, association with|Potential protein deficiency|Thoracic aortic aneurysms and dissections|Ehlers-Danlos syndrome IV, vascular-type|Ehlers-Danlos syndrome IV|Ehlers-Danlos syndrome III|Ehlers-Danlos syndrome|Ehlers-Danlos IV with features of EDS I/II & muscle hypertrophy|Aortic aneurysm |Acrogeria, Gottron	TCGA,
chr5	94359762	94359762	C	T	intronic	MCTP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr15	52722775	52722775	T	C	intronic	MYO5A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20793381	-	BRCA-EU|1|569|0.00176	-	-	integument phenotype	Griscelli syndrome	COSMIC,ICGC,
chr5	30595300	30595300	A	C	intergenic	LOC101929681,CDH6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,renal/urinary system phenotype	-,-	ICGC,
chr1	66673270	66673270	T	G	intronic	PDE4B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Psychiatric disorder |Schizophrenia	ICGC,
chr8	49379304	49379304	T	G	intergenic	UBE2V2,LOC101929268	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr7	19576147	19576147	G	C	intergenic	FERD3L,TWISTNB	unknown	SNV	-	-	-	0.5558	rs6972245	-	0.384784	-	0.420	-	-	LAML-KR|1|205|0.00488	-	-	cellular phenotype,-	-,-	ICGC,
chr10	23481615	23481615	C	T	exonic	PTF1A	synonymous	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Cerebellar agenesis|Diabetes, permanent neonatal|Pancreatic agenesis|Pancreatic and cerebellar agenesis	ICGC,
chr7	100615210	100615210	C	T	intronic	MUC12	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr9	83003751	83003751	G	A	intergenic	LOC101927477,TLE1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr8	124415078	124415078	-	GATAAT	intergenic	ATAD2,WDYHV1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr4	37452391	37452391	C	T	intergenic	NWD2,C4orf19	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	-,-	-,-	ICGC,
chr11	63069857	63069857	G	C	exonic	SLC22A10	nonsynonymous	SNV	0.158	0.139	-	-	-	-	-	-	-	COSM4726659	-	-	-	-	-	-	COSMIC,
chr13	85332098	85332098	A	G	intergenic	LINC00333,LINC00351	unknown	SNV	-	-	-	0.0461	rs80196886	-	0.0708866	-	0.043	-	-	ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488	-	-	-,-	-,-	ICGC,
chr5	61180246	61180246	G	A	intergenic	LOC100506526,KIF2A	unknown	SNV	-	-	-	3.228e-05	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,mortality/aging	-,Malformation of cortical development	ICGC,
chr21	36333196	36333196	G	A	intronic	RUNX1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Platelet disorder, familial|Platelet disorder, familial & myeloid leukaemia|Platelet disorder, familial with associated myeloid malignancy|Rheumatoid arthritis, susceptibility, association|Thrombocytopaenia |Thrombocytopaenia and acute myeloid leukaemia|Thrombocytopaenia, association with|Thrombocytopaenia, non-syndromic with myelodysplasia|Platelet dense granule secretion defect, excessive bleeding|Myelodysplastic/myeloproliferative disease|Mental retardation, syndromic, with thrombocytopaenia|Acute myeloid leukaemia |Acute myeloid leukaemia, myelodysplastic syndrome-related|Delta-storage-pool platelet disease|Developmental delay, congenital anomalies & thrombocytopenia|Growth retardation & thrombocytopaenia|Leukaemia, chronic myelomonocytic|Lymphoblastic leukaemia, T-cell acute|Mental retardation, short stature & thrombocytopaenia	ICGC,
chr10	3259003	3259003	G	C	intergenic	PITRM1,KLF6	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1486156	-	LIRI-JP|1|258|0.00388	-	-	-,integument phenotype	-,Decreased promoter activity|Lung adenocarcinoma, reduced risk, association with.|Nonalcoholic fatty liver disease fibrosis, association with|Prostate cancer |Prostate cancer, risk, association with|Reduced hepatic insulin resistance	COSMIC,ICGC,
chr8	6162109	6162109	G	A	intergenic	CSMD1,LOC100287015	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	Schizophrenia, association with |Hyperinsulinism|Autism|Attention deficit hyperactivity disorder ,-	ICGC,
chr20	31514238	31514238	-	T	intergenic	MAPRE1,SUN5	unknown	insertion	-	-	-	0.0038	-	-	-	-	-	COSN27207018	-	-	-	-	-,-	-,-	COSMIC,
chr9	31989002	31989002	T	A	intergenic	LINC01242,ACO1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,mortality/aging	-,Schizophrenia	ICGC,
chr4	31525657	31525657	A	C	intergenic	PCDH7,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	ICGC,
chr4	188771049	188771049	G	A	intergenic	LOC100506272,ZFP42	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,-	ICGC,
chr10	57149281	57149281	C	A	intergenic	PCDH15,MTRNR2L5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1493808	-	LIRI-JP|1|258|0.00388	-	-	vision/eye phenotype,-	Usher syndrome II|Usher syndrome 1f|Usher syndrome 1|Lipid levels in hyperlipidaemia, association with|Hearing loss, non-syndromic|Deafness, non-syndromic, autosomal recessive|Deafness, non-syndromic |Deafness  ,-	COSMIC,ICGC,
chr5	100785494	100785494	C	T	intergenic	ST8SIA4,SLCO4C1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,-	-,-	ICGC,
chr18	38831225	38831225	G	A	intergenic	LOC101927900,KC6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr14	94576570	94576570	G	A	upstream	IFI27	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1173224	-	LINC-JP|1|394|0.00254	-	-	-	-	COSMIC,ICGC,
chr19	56526434	56526434	T	C	intronic	NLRP5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	other phenotype	-	ICGC,
chr14	102403976	102403976	T	G	intergenic	PPP2R5C,DYNC1H1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7429096	-	PACA-AU|1|391|0.00256	-	-	-,mortality/aging	-,Spinal muscular atrophy.|Spinal muscular atrophy  |Mental retardation  |Malformations of cortical development|Malformation of cortical development|Intellectual disability with neuronal migration defects|Charcot-Marie-Tooth disease, axonal 	COSMIC,ICGC,
chr4	39436011	39436011	G	A	exonic	KLB	nonsynonymous	SNV	0.391	0.978	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	skeleton phenotype	Accelerated colonic transit in irritable bowel syndrome, association	ICGC,
chr14	64182220	64182220	G	A	intronic	SGPP1	unknown	SNV	-	-	-	0.0003	rs149361155	-	0.000599042	-	-	-	-	LAML-KR|1|205|0.00488	-	-	-	-	ICGC,
chr1	244447538	244447538	A	T	intergenic	ZBTB18,C1orf100	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LINC-JP|1|394|0.00254	-	-	mortality/aging,-	-,Potential protein deficiency	ICGC,
chr7	66259739	66259739	G	A	intronic	RABGEF1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	integument phenotype	-	ICGC,
chrX	94356471	94356510	TTAACGAAGTTACTAGGTTAATGTCACCAGTAATATGTCA	-	intergenic	FAM133A,LOC643486	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	137987012	137987012	A	T	intronic	THSD7B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Autism spectrum disorder	ICGC,
chrX	107054673	107054673	G	A	intergenic	TSC22D3,MID2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	reproductive system phenotype,-	-,Intellectual disability, X-linked	ICGC,
chr3	174554575	174554575	T	G	intergenic	NLGN1,NAALADL2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23332614	-	MALY-DE|1|241|0.00415	-	-	mortality/aging,-	Microcephaly, seizure disorder & intellectual disability |Autism spectrum disorder  |Autism|Anorectal malformation,-	COSMIC,ICGC,
chr4	92364216	92364216	T	C	intronic	CCSER1	unknown	SNV	-	-	-	0.0947	rs34276159	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr5	55427570	55427570	CC	TT	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr3	27711851	27711851	A	-	intergenic	SLC4A7,EOMES	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	mortality/aging,mortality/aging	Ovarian cancer ,Altered p53 binding|Microcephaly with polymicrogyria	ICGC,
chr15	22520210	22520210	G	T	intergenic	OR4N3P,REREP3	unknown	SNV	-	-	-	0	rs566141382	-	0.000199681	-	-	COSN24751492	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	COSMIC,ICGC,
chr5	126873603	126873603	G	A	intronic	PRRC1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24669642	-	GACA-CN|1|123|0.00813	-	-	-	-	COSMIC,ICGC,
chr3	176782763	176782763	C	G	exonic	TBL1XR1	nonsynonymous	SNV	0.072	0.946	-	-	-	-	-	-	-	COSM3846780	BRCA|1|982|0.00102	LICA-CN|1|402|0.00249,BRCA-US|1|955|0.00105	-	-	-	Autism	COSMIC,TCGA,ICGC,
chrX	129913804	129913805	AT	-	intronic	ENOX2	unknown	deletion	-	-	-	0	rs200333370	-	-	-	-	-	-	PBCA-DE|2|499|0.00401	-	-	normal phenotype	-	ICGC,
chr10	6516097	6516097	G	T	intronic	PRKCQ	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	mortality/aging	-	ICGC,
chr7	91793635	91793635	T	C	exonic	LRRD1	synonymous	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr2	142197942	142197942	A	G	intronic	LRP1B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Schizophrenia   	ICGC,
chr8	127115009	127115009	T	C	intergenic	LINC00861,FAM84B	unknown	SNV	-	-	-	0.0900	rs72712750	-	0.0640974	-	0.203	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr9	130116189	130116189	G	T	exonic	GARNL3	nonsynonymous	SNV	0.007	1.0	-	-	-	-	-	-	-	COSM320549	-	-	-	-	-	-	COSMIC,
chr16	13410518	13410518	G	A	intergenic	SHISA9,ERCC4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Xeroderma pigmentosum (F)|Progeroid syndrome|Potential protein deficiency|Lung cancer, susceptibility to|Fanconi anaemia|Combined xeroderma pigmentosum, cockayne syndrome and fanconi anaemia|Cockayne syndrome|Breast cancer  |Breast and/or ovarian cancer|Bladder cancer, increased risk, association with	ICGC,
chr18	24812501	24812501	T	G	intergenic	CHST9,CDH2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22199478	-	BRCA-UK|1|141|0.00709,BRCA-EU|1|569|0.00176	-	-	-,mortality/aging	-,Reduced expression|Potential protein deficiency|Alzheimer disease  	COSMIC,ICGC,
chr2	6708255	6708255	T	C	intergenic	LINC01247,LINC01246	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	-,-	ICGC,
chr15	22413250	22413250	T	C	upstream	OR4N3P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-	-	ICGC,
chr5	151975046	151975046	A	G	intergenic	NMUR2,LOC101927134	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	-,-	ICGC,
chr3	165918725	165918725	G	A	intergenic	BCHE,ZBBX	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Serum cholinesterase deficiency|Potential protein deficiency|Obesity and triglyceride levels, association with|Hypocholinesterasaemia|Fronto-temporal dementia, association with|Cholinesterasaemia|Butyrylcholinesterase variant|Butyrylcholinesterase deficiency|Addiction to crack cocaine, association with|Acholinesterasaemia,-	ICGC,
chr18	14557133	14557133	G	A	intergenic	POTEC,ANKRD30B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	149585877	149585877	G	C	ncRNA_intronic	LINC00623,LINC00869,LOC103091866	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-,-	-,-,-	ICGC,
chr1	196694322	196694322	G	A	exonic	CFH	nonsynonymous	SNV	0.0	1.0	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging	Macular degeneration, age-related|Macular degeneration, age-related, association with|Macular degeneration, age-related, protection against|Macular degeneration, exudative age-related, association with|Membranoproliferative glomerulonephritis|Macular degeneration, age related, association with |Lung cancer, increased risk|Kidney function, association with|Inflammation, visual impairment, and cardiovascular mortality, association with|IgA nephropathy |Hypertension and blood pressure, association with.|Hemolysis, elevated liver enzymes & low platelet count|Membranoproliferative glomerulonephritis, association|Membranoproliferative glomerulonephritis, association with|Meningococcal disease, lower risk, association with|Thrombotic microangiopathy, ticlopidine-associated|Thrombotic microangiopathy following transplantation|Thrombotic microangiopathy following kidney transplantation|Stargardt disease |Reduced retinal sensitivity in macular region, in early age-related macular degeneration patients, association with.|Polypoidal choroidal vasculopathy, association with.|Polypoidal choroidal vasculopathy, association with|Polypoidal choroidal vasculopathy, and neovascular age-related macular degeneration, association with.|Polypoidal choroidal vasculopathy|No association with atypical hemolytic uraemic syndrome|Mortality, increased risk in nonagenarians, association with|Thrombotic thrombocytopaenic purpura, renal involvement|Haemolytic uraemic syndrome, Streptococcus pneumoniae-associated|Haemolytic uraemic syndrome, reduced susceptibility|Dense deposit disease, increased risk|Dense deposit disease, association with|Dense deposit disease |Coronary artery disease, early-onset, association with|C3 glomerulonephritis.|C3 glomerulonephritis|Bilateral soft drusen, in age-related maculopathy, association|AMD, tAMD, PCV and RAP, association with|AMD, tAMD, and PCV, association with|AMD in Asians, association with|Alzheimer disease, association with|Age-related macular degeneration, exudative, association with|Dense deposit disease.|Drusen, basal laminar|Haemolytic uraemic syndrome, atypical.|Haemolytic uraemic syndrome, atypical|Haemolytic uraemic syndrome, association with |Haemolytic uraemic syndrome with skin lesions|Haemolytic uraemic syndrome|Glomerulonephritis, crescentic and necrotizing|Glomerulonephritis with isolated C3 deposits / Membranoproliferative glomerulonephritis|Event-free survival, in follicular lymphoma, association with.|Factor H deficiency|Focal and secondary glomerulosclerosis|Glomerulonephritis |Glomerulonephritis with isolated C3 deposits	ICGC,
chr11	60575707	60575707	G	T	intergenic	MS4A10,CCDC86	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	Autism spectrum disorder,-	ICGC,
chr7	104752840	104752847	CTCCACCT	-	exonic	KMT2E	frameshift	deletion	-	-	-	-	-	-	-	-	-	-	HNSC|1|512|0.00195	-	-	-	-	-	TCGA,
chr10	108420345	108420345	C	A	intronic	SORCS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	other phenotype	Autism 	ICGC,
chr3	74717385	74717385	C	T	intergenic	CNTN3,MIR4444-1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr11	35546269	35546269	G	A	intronic	PAMR1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN4721768	-	MALY-DE|1|241|0.00415	-	-	-	-	COSMIC,ICGC,
chr6	6991242	6991242	-	TATGTGTATACACATCACAGATA	intergenic	LY86,RREB1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	hematopoietic system phenotype,-	-,Dysmorphism	ICGC,
chr5	124856589	124856589	G	A	ncRNA_intronic	LOC101927460	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr12	133157744	133157744	C	T	intronic	FBRSL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr8	9599360	9599360	G	T	intronic	TNKS	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9689139	-	OV-AU|1|93|0.01075	-	-	mortality/aging	Autism|Schizophrenia	COSMIC,ICGC,
chr8	22574189	22574189	G	T	intronic	PEBP4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2269806	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr9	110596497	110596497	-	T	intergenic	KLF4,ACTL7B	unknown	insertion	-	-	-	0.0034	rs200320189	-	-	-	-	-	-	PRAD-UK|1|140|0.00714	-	-	integument phenotype,-	-,Schizophrenia	ICGC,
chr3	110638187	110638187	C	T	intergenic	LINC01205,PVRL3-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr5	24578121	24578121	G	T	intronic	CDH10	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21547908	-	BRCA-UK|1|141|0.00709,BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr16	26306700	26306700	-	GTGT	intergenic	HS3ST4,C16orf82	unknown	insertion	-	-	-	0.1050	rs60109472	-	-	-	-	COSN27323298	-	-	-	-	-,-	-,-	COSMIC,
chr10	52445651	52445651	G	T	intergenic	SGMS1,ASAH2B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21178953	-	BRCA-UK|1|141|0.00709,BRCA-EU|1|569|0.00176	-	-	mortality/aging,-	-,-	COSMIC,ICGC,
chr16	26078869	26078869	C	T	intronic	HS3ST4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr12	57324956	57324956	A	G	intronic	SDR9C7	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5796388	-	EOPC-DE|1|202|0.00495	-	-	-	-	COSMIC,ICGC,
chr7	19497753	19497753	A	G	intergenic	FERD3L,TWISTNB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	cellular phenotype,-	-,-	ICGC,
chr4	151366345	151366345	T	A	intronic	LRBA	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26412432	-	PRAD-UK|1|140|0.00714	-	-	-	Autoimmunity|Hypogammaglobulinaemia, early-onset with autoimmunity & inflammatory bowel disease|Immunodeficiency, common variable 	COSMIC,ICGC,
chr8	122235602	122235602	T	A	intergenic	SNTB1,HAS2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24668540	-	GACA-CN|1|123|0.00813	-	-	-,mortality/aging	-,Ventricular septal defect	COSMIC,ICGC,
chr7	304874	304874	C	A	intergenic	FAM20C,WI2-2373I1.2	unknown	SNV	-	-	-	3.236e-05	-	-	-	-	-	COSN7977201	-	PACA-AU|1|391|0.00256	-	-	mortality/aging,-	Hypophosphataemia, dental anomalies & ectopic calcification|Osteosclerotic bone dysplasia, lethal|Osteosclerotic bone dysplasia, non-lethal|Raine syndrome,-	COSMIC,ICGC,
chr1	74382202	74382202	C	T	intergenic	LINC01360,LRRIQ3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	13202229	13202229	G	A	intergenic	LINC01194,DNAH5	unknown	SNV	-	-	-	3.23e-05	rs569118628	-	0.000199681	-	-	COSN23345300	-	MALY-DE|1|241|0.00415	-	-	-,mortality/aging	-,Asthenozoospermia |Autism |Chronic rhinosinusitis and primary ciliary dyskinesia|Potential protein deficiency|Primary ciliary dyskinesia	COSMIC,ICGC,
chr6	162883800	162883800	G	C	intronic	PARK2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype	Parkinson disease, decreased risk|Parkinson disease, early-onset|Parkinson disease, early-onset.|Parkinson disease, familial|Parkinson disease, familial, association with |Parkinson disease, idiopathic|Parkinson disease, in heterozygosity, association|Parkinson disease, late-onset|Parkinson disease, sporadic, reduced risk|Parkinson disease.|Parkinsonism, juvenile, autosomal recessive|Parkinsonism, late-onset, association with|Rolandic epilepsy |Parkinson disease, autosomal recessive|Parkinson disease, association with|Parkinson disease with resting leg tremor|Attention deficit hyperactivity disorder |Autism spectrum disorder|Cervical artery dissection|Dementia with Lewy bodies|Developmental delay  |Dystonia, dopa-responsive|Leprosy, association with|Lewy bodies|Lung adenocarcinoma   |Multiple system atrophy, cerebellar subtype|Parkinson disease|Parkinson disease with dementia.|Parkinson disease with Lewy bodies	ICGC,
chr10	62973195	62973195	G	A	intergenic	LINC00845,TMEM26	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr8	94198868	94198868	C	T	intergenic	C8orf87,LINC00535	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr16	16619298	16619298	C	-	intergenic	NPIPA7,XYLT1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,Decreased serum glycosaminoglycan levels, association with|Desbuquois dysplasia type 2|Diabetes, type 1, protection, association |Diabetic nephropathy protection |Increased serum XT1 activity in pseudoxanthoma elasticum, association|Short stature & intellectual disability	ICGC,
chr12	129175978	129175978	C	T	intronic	TMEM132C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr8	59079066	59079066	T	A	intergenic	FAM110B,LOC101929528	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr5	143874173	143874173	G	T	intergenic	KCTD16,PRELID2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22742959	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr5	161875185	161875185	G	A	intergenic	GABRG2,CCNG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,mortality/aging	Seizures, generalized tonic-clonic|Myoclonic epilepsy of infancy |Generalized epilepsy with febrile seizures plus|Febrile seizures|Epilepsy, susceptibility to|Epilepsy, idiopathic generalised  |Epilepsy, childhood absence with febrile seizures|Dravet syndrome,-	ICGC,
chr9	93281315	93281320	GAGACC	-	ncRNA_intronic	LOC340515	unknown	deletion	-	-	-	-	-	-	-	-	-	COSN27400647	-	BTCA-SG|1|71|0.01408	-	-	-	-	COSMIC,ICGC,
chr5	75449047	75449047	C	T	intronic	SV2C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr6	95441533	95441533	T	C	intergenic	TSG1,MANEA-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr6	134186321	134186321	C	T	ncRNA_intronic	EYA4-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr2	197284832	197284837	AATTTA	-	intronic	HECW2	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	-	ICGC,
chr7	24554842	24554842	G	A	intergenic	NPY,MPP6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	skeleton phenotype,-	Major depressive disorder, association with|Metabolic syndrome in coronary artery disease, association with|Schizophrenia, association with|Serum leptin levels, and waist-hip ratio, in women, association with.|Hypertension, association with|Huntington disease, age at onset, association with|Elevated plasma LDL, association with|Diabetes, type II,  in middle-aged subjects, association with|Coronary artery disease, association with|Altered response to growth factors, association with|Alcohol dependence, association with|Stress response,Autism	ICGC,
chr4	24509464	24509464	C	A	intergenic	PPARGC1A,MIR573	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Neovascularization in age-related macular degeneration, reduced risk|Left ventricular diastolic dysfunction in men, association with|Insulin resistance, association with|Increased risk for HCM|Hyperinsulinemia, HOMA-IR indices and abdominal obesity, association with|Huntington disease, age-at-onset in males, association with|Endurance-related phenotypes, association with|Diabetic nephropathy, association with|Diabetes, type 2, lower risk, association with|Diabetes, type 2, association with|Breast cancer|Body mass index, association with|Blood pressure, association with,-	ICGC,
chr16	71576299	71576299	C	T	intergenic	CHST4,LOC100132529	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	immune system phenotype,-	-,-	ICGC,
chr12	98118352	98118352	C	-	ncRNA_intronic	LOC643711	unknown	deletion	-	-	-	9.71e-05	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	-	ICGC,
chr12	106657220	106657220	A	G	intergenic	CKAP4,TCP11L2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1555933	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,Schizophrenia	COSMIC,ICGC,
chr7	17265401	17265401	C	T	intergenic	AGR3,AHR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Uterine endometrial cancer, association with|Lung cancer, smoking-related, association with|Lower AHR, ARNT and CYP1B1 mRNA expression, association|Higher induced CYP1A1 activity|Breast cancer risk, association with	ICGC,
chr11	38410761	38410761	C	A	intergenic	C11orf74,LOC103312105	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15514626	-	OV-AU|1|93|0.01075	-	-	-,-	-,-	COSMIC,COSMIC,ICGC,
chr8	107372636	107372636	C	T	intronic	OXR1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	-	ICGC,
chr7	63535464	63535464	T	C	intronic	ZNF727P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-	-	ICGC,
chr2	189867754	189867754	G	T	exonic	COL3A1	nonsynonymous	SNV	0.0	1.0	-	-	-	-	-	-	-	-	-	-	Thoracic_aortic_aneurysm_and_aortic_dissection	-	integument phenotype	Ehlers-Danlos syndrome, vascular-type|Intracranial aneurysm, association with  |Pelvic organ prolapse, association with|Potential protein deficiency|Thoracic aortic aneurysms and dissections|Ehlers-Danlos syndrome IV, vascular-type|Ehlers-Danlos syndrome IV|Ehlers-Danlos syndrome III|Ehlers-Danlos syndrome|Ehlers-Danlos IV with features of EDS I/II & muscle hypertrophy|Aortic aneurysm |Acrogeria, Gottron	ClinVar,
chr13	79616154	79616154	G	A	intergenic	LINC00331,RBM26	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr7	83850213	83850213	A	T	intergenic	SEMA3A,LOC101927378	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2239096	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging,-	Unexplained cardiac arrest, association with|Short stature & multiple congenital anomalies|Kallmann syndrome|Hirschsprung disease   |Crypt frequency in the iris, association with,-	COSMIC,ICGC,
chr17	32421531	32421531	G	A	intronic	ASIC2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	taste/olfaction phenotype	Dyslexia 	ICGC,
chr2	116424429	116424429	A	T	intronic	DPP10	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23683039	-	ESAD-UK|1|301|0.00332	-	-	-	Autism spectrum disorder	COSMIC,ICGC,
chr3	96122100	96122100	T	G	intergenic	MIR8060,EPHA6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|2|301|0.00664	-	-	-,behavior/neurological phenotype	-,Alzheimer disease  	ICGC,
chr18	40944671	40944671	-	T	intergenic	SYT4,LOC101927921	unknown	insertion	-	-	-	-	rs540362315	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	behavior/neurological phenotype,-	-,-	ICGC,
chrX	96705557	96705557	C	T	intronic	DIAPH2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	cardiovascular system phenotype	Premature ovarian failure	ICGC,
chr18	62464625	62464625	C	A	intergenic	LOC284294,CDH7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr2	161910212	161910212	-	AAAGTCC	intergenic	RBMS1,TANK	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|2|67|0.02985	-	-	mortality/aging,mortality/aging	-,-	ICGC,
chr11	37438668	37438668	G	A	intergenic	C11orf74,LOC103312105	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr15	95523880	95523880	C	T	intergenic	LOC440311,LINC01197	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr15	91449757	91449757	C	-	intronic	MAN2A2	unknown	deletion	-	-	4.068e-06	-	rs767280276	8.249e-06	-	-	-	COSN20071894	-	-	-	-	mortality/aging	Potential protein deficiency	COSMIC,
chr6	103865964	103865964	G	C	intergenic	GRIK2,HACE1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	behavior/neurological phenotype,tumorigenesis	Mental retardation, non-syndromic, autosomal recessive,Wilms tumour 	ICGC,
chr4	3449932	3449932	G	T	exonic	HGFAC	nonsynonymous	SNV	0.002	1.0	-	-	-	-	-	-	-	COSM6322696	-	LICA-CN|1|402|0.00249	-	-	mortality/aging	-	COSMIC,ICGC,
chrX	48841071	48841071	G	A	intronic	GRIPAP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-FR|1|72|0.01389	-	-	-	-	ICGC,
chr14	99863320	99863320	G	C	downstream	SETD3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr1	85419232	85419232	-	CA	intronic	MCOLN2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr21	23735516	23735516	-	A	intergenic	LINC00308,D21S2088E	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr16	77955091	77955091	G	A	intronic	VAT1L	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	other phenotype	-	ICGC,
chr9	81812876	81812876	C	T	intergenic	LOC101927450,TLE4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	63096295	63096295	G	T	intergenic	IPO11,HTR1A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23666820	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,Tourette syndrome |Reduced expression|Personality disorders, association with.|Menstrual cycle-dependent fever|Major depression and suicide, association with|Major depression|Impulsive behaviour, association with|Epileptic seizures |Comorbid depression and generalized anxiety, association with|Attenuated agonist-mediated receptor down-regulation and desensitization	COSMIC,ICGC,
chr5	115045758	115045758	G	T	intergenic	LOC102467217,CDO1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,mortality/aging	-,-	ICGC,
chr8	142882357	142882357	A	G	intergenic	MROH5,MIR4472-1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	132726195	132726195	G	A	intergenic	NPHP3-AS1,TMEM108	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr8	126358642	126358642	A	G	intronic	NSMCE2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-AU|1|391|0.00256	-	-	-	-	ICGC,
chr14	74566854	74566854	C	T	intronic	LIN52	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr3	169219877	169219877	T	C	intronic	MECOM	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17046633	-	-	-	-	mortality/aging	Decreased expression|Thrombocytopaenia with aplastic anaemia	COSMIC,
chr12	92182926	92182926	G	T	intergenic	DCN,C12orf79	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	integument phenotype,-	Renal disease, slower progress in diabetes, association with|Congenital stromal dystrophy,-	ICGC,
chr2	166053285	166053285	C	T	intronic	SCN3A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging	Autism spectrum disorder|Epilepsy, cryptogenic pediatric partial|Epilepsy, focal  	ICGC,
chr4	122721671	122721671	A	G	upstream	EXOSC9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	-	ICGC,
chr12	76064931	76064931	G	T	intergenic	KRR1,PHLDA1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7381266	-	PACA-AU|1|391|0.00256	-	-	-,immune system phenotype	-,-	COSMIC,ICGC,
chrX	18026288	18026288	T	A	intergenic	RAI2,BEND2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Autism spectrum disorder|Potential protein deficiency	ICGC,
chr19	5198927	5198927	G	T	intergenic	KDM4B,PTPRS	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	integument phenotype,integument phenotype	-,-	ICGC,
chr1	219067633	219067633	C	A	intergenic	TGFB2,LYPLAL1-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	RECA-EU|1|422|0.00237	-	-	mortality/aging,-	Breast cancer, progression, association with|Loeys-Dietz syndrome 4|Thoracic aortic aneurysms and dissections,-	ICGC,
chr8	72997566	72997566	T	G	intergenic	TRPA1,LOC392232	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,-	Paradoxical heat sensation, association with |Episodic pain syndrome,-	ICGC,
chr4	23685803	23685803	T	C	intergenic	MIR548AJ2,PPARGC1A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6823485	-	LIRI-JP|1|258|0.00388	-	-	-,mortality/aging	-,Neovascularization in age-related macular degeneration, reduced risk|Left ventricular diastolic dysfunction in men, association with|Insulin resistance, association with|Increased risk for HCM|Hyperinsulinemia, HOMA-IR indices and abdominal obesity, association with|Huntington disease, age-at-onset in males, association with|Endurance-related phenotypes, association with|Diabetic nephropathy, association with|Diabetes, type 2, lower risk, association with|Diabetes, type 2, association with|Breast cancer|Body mass index, association with|Blood pressure, association with	COSMIC,ICGC,
chrX	35168199	35168199	A	G	intergenic	FAM47B,MAGEB16	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	Potential protein deficiency,Potential protein deficiency	ICGC,
chr6	1981454	1981454	G	A	intronic	GMDS	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Tetralogy of Fallot	ICGC,
chr18	67446955	67446956	TG	-	intronic	DOK6	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	-	ICGC,
chr7	154224390	154224390	T	G	intronic	DPP6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|2|301|0.00664,PACA-CA|1|268|0.00373	-	-	nervous system phenotype	Autism spectrum disorder  |Schizophrenia  |Ventricular fibrillation, idiopathic 	ICGC,
chr6	22374366	22374366	A	C	intergenic	PRL,HDGFL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,-	Rheumatoid arthritis susceptibility, association with|Schizophrenia, association with|Systemic lupus erythematosus, association with,-	ICGC,
chr22	49802043	49802043	G	A	intergenic	LINC01310,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr4	92720324	92720324	C	T	intergenic	CCSER1,GRID2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,mortality/aging	-,Cerebellar ataxia & tonic upgaze|Cerebellar ataxia and atrophy|Schizophrenia|Spastic paraplegia, complicated	ICGC,
chr3	57908744	57908744	-	AT	exonic	SLMAP	frameshift	insertion	-	-	-	-	-	-	-	-	-	-	BRCA|1|982|0.00102	-	-	-	craniofacial phenotype	Brugada syndrome    	TCGA,
chr3	31384614	31384614	G	A	intergenic	GADL1,STT3B	unknown	SNV	-	-	-	-	rs561055200	-	0.000199681	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-,-	-,Congenital disorder of glycosylation  |Schizophrenia	ICGC,
chrX	9208537	9208537	G	T	intergenic	FAM9B,TBL1X	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	-,-	-,Sensorineural deafness, late onset, X-linked	ICGC,
chr11	25565734	25565734	C	T	intergenic	LUZP2,ANO3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	normal phenotype,-	Anorectal malformation,Craniocervical dystonia|Dystonia, primary torsion	ICGC,
chr13	103832818	103832818	T	C	intergenic	SLC10A2,MIR548AS	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	digestive/alimentary phenotype,-	Bile acid malabsorption, primary|Colorectal adenoma, increased risk, association with|Hypertriglyceridaemia |Impaired taurocholate transport|Potential protein deficiency,-	ICGC,
chr7	135203294	135203294	T	C	intergenic	CNOT4,NUP205	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	Autism,-	ICGC,
chr1	111611258	111611258	G	A	intergenic	LRIF1,DRAM2	unknown	SNV	-	-	-	6.602e-05	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	-,-	-,-	ICGC,
chrX	97162926	97162926	T	C	intergenic	DIAPH2,XRCC6P5	unknown	SNV	-	-	-	0.1868	rs437224	-	0.228609	-	0.181	COSN168774	-	COCA-CN|1|321|0.00312,LUSC-KR|1|170|0.00588	-	-	cardiovascular system phenotype,-	Premature ovarian failure,-	COSMIC,COSMIC,ICGC,
chr6	75641777	75641777	A	C	intergenic	LOC101928516,COL12A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|2|301|0.00664	-	-	-,mortality/aging	-,Bethlem-like myopathy|Joint hypermobility syndrome with myopathy|Lung cancer, susceptibility to, association with	ICGC,
chr18	76778420	76778420	C	T	intergenic	SALL3,ATP9B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,-	-,-	ICGC,
chr7	63740982	63740982	C	T	intergenic	ZNF679,ZNF736	unknown	SNV	-	-	-	3.23e-05	rs768370908	-	-	-	-	COSN25421684	-	PEME-CA|1|112|0.00893,MALY-DE|1|241|0.00415	-	-	-,-	-,-	COSMIC,ICGC,
chr2	129661655	129661655	C	A	intergenic	LOC101927881,LOC151121	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9079758	-	OV-AU|1|93|0.01075	-	-	-,-	-,-	COSMIC,ICGC,
chr18	9749581	9749581	C	T	intronic	RAB31	unknown	SNV	-	-	-	3.229e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chrX	111493159	111493159	T	C	intronic	ZCCHC16	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15729836	-	LIRI-JP|1|258|0.00388	-	-	-	Autism spectrum disorder	COSMIC,ICGC,
chr6	99603991	99603991	C	T	intergenic	FBXL4,FAXC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-,-	Mitochondrial encephalopathy, early-onset,-	ICGC,
chr4	65841060	65841060	T	C	ncRNA_intronic	LOC401134	unknown	SNV	-	-	-	-	rs371154223	-	-	-	-	COSN24890135	-	PBCA-DE|1|499|0.00200	-	-	-	-	COSMIC,ICGC,
chr12	22209555	22209555	G	A	intronic	CMAS	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	-	-	ICGC,
chr1	190933340	190933340	A	G	intergenic	LOC440704,RGS18	unknown	SNV	-	-	-	0.4299	rs967408	-	0.46845	-	0.486	-	-	ESAD-UK|2|301|0.00664,LAML-KR|1|205|0.00488	-	-	-,no phenotypic analysis	-,Potential protein deficiency	ICGC,
chrX	114000297	114000297	A	T	intronic	HTR2C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Tourette syndrome, association with|Tardive dyskinesia, association with|Suicide, association with|Reduced promoter activity|Premature ejaculation, association with|Increased promoter activity, association with|Hallucinations, in Alzheimer disease, association|Greater dopamine release|Alcohol use disorder comorbidity, association with|Anxiety, and Appetite disturbances in females, in Alzheimer disease, association with.|Bipolar affective disorder, association with|BMI, association with|Depression, in Alzheimer disease, association with.|Diabetes, association with	ICGC,
chr18	32013011	32013011	T	C	intergenic	NOL4,DTNA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,mortality/aging	-,Left ventricular noncompaction with CHD	ICGC,
chr11	132441164	132441164	T	A	intronic	OPCML	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PAEN-IT|1|37|0.02703	-	-	no phenotypic analysis	Autism spectrum disorder  	ICGC,
chr14	83190081	83190081	T	G	intergenic	LOC101928559,NONE	unknown	SNV	-	-	-	0.0053	rs77849002	-	0.0161741	-	0.007	-	-	LAML-KR|1|205|0.00488	-	-	-,-	-,-	ICGC,
chr11	19057192	19057192	G	A	intergenic	MRGPRX1,MRGPRX2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr20	49865238	49865238	C	T	intergenic	KCNG1,NFATC2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9142130	-	OV-AU|1|93|0.01075	-	-	-,hematopoietic system phenotype	-,Developmental delay, facial dysmorphism & skeletal anomalies	COSMIC,ICGC,
chr19	30592632	30592632	G	A	intergenic	URI1,ZNF536	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Schizophrenia	ICGC,
chr13	82163541	82163541	C	G	intergenic	SPRY2,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	mortality/aging,-	Cleft lip ,-	ICGC,
chr1	69311517	69311517	A	-	intergenic	DEPDC1-AS1,LRRC7	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,mortality/aging	-,-	ICGC,
chr5	102122916	102122916	G	T	intergenic	LINC00491,PAM	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7852294	-	PACA-AU|1|391|0.00256	-	-	-,mortality/aging	-,Insulinogenic index, association with|Diabetes, type 2, increased risk	COSMIC,COSMIC,ICGC,
chr14	93595234	93595234	G	A	intergenic	ITPK1,MOAP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	skeleton phenotype,-	Autism spectrum disorder|Neural tube defects, increased risk, association with,-	ICGC,
chr2	44040401	44040401	G	C	exonic	ABCG5	nonsynonymous	SNV	0.374	0.091	0.2073	0.2000	rs6720173	0.2097	0.240016	0.2103	0.297	COSM3758242	-	LAML-KR|1|205|0.00488,LUSC-KR|2|170|0.01176,COAD-US|1|254|0.00394	Sitosterolemia	-	mortality/aging	Sitosterolaemia|Reduced total cholesterol levels|Phytosterolaemia.|Phytosterolaemia |Partial lipodystrophy  |Increased serum cholesterol, association with |Hypercholesterolaemia|Cholelithiasis, association with|Altered cholesterol metabolism	ClinVar,COSMIC,ICGC,
chr8	115280896	115280896	A	C	intergenic	CSMD3,TRPS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	Schizophrenia  |Colorectal cancer ,Tricho-rhino-phalangeal syndrome with supernumerary teeth|Tricho-rhino-phalangeal syndrome III|Tricho-rhino-phalangeal syndrome I|Tricho-rhino-phalangeal syndrome|Infantile scoliosis & developmental delay|Femoral neck width, association with|Ambras syndrome	ICGC,
chr7	36738610	36738610	T	G	intronic	AOAH	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2464404	-	-	-	-	immune system phenotype	Colorectal cancer, increased risk, association with	COSMIC,
chr2	178234262	178234262	C	T	ncRNA_intronic	LOC100130691	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr16	9859389	9859389	C	T	intronic	GRIN2A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Intellectual disability  |Landau-Kleffner syndrome|Landau-Kleffner syndrome, atypical rolandic epilepsy, dysphasia, CSWS syndrome|Landau-Kleffner syndrome, verbal dyspraxia|Landau-Kleffner syndrome/benign epilepsy with centrotemporal spikes/atypical benign partial epilepsy|Mental retardation with abnormal EEG|Partial epilepsy, atypical benign|Rolandic epilepsy |Schizophrenia|Schizophrenia, chronic outcome, association with|Seizure disorders of rolandic region & intellectual disability|Increased hippocampal and amygdala volumes, association with|Epileptic encephalopathy, verbal dyspraxia|Epileptic encephalopathy, benign childhood epilepsy|Alcohol dependence, association with|Atypical rolandic epilepsy, absence epilepsy|Atypical rolandic epilepsy, verbal dyspraxia|Benign epilepsy with centrotemporal spikes|Epilepsy with cognitive impairment|Epilepsy-aphasia syndrome|Epilepsy, childhood-onset|Epileptic encephalopathy|Epileptic encephalopathy, abnormal EEG & developmental delay|Epileptic encephalopathy, atypical rolandic epilepsy, dysphasia|Epileptic encephalopathy, atypical rolandic epilepsy, verbal dyspraxia	ICGC,
chr7	37857027	37857027	C	-	intergenic	GPR141,NME8	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,Ciliary dyskinesia, primary|Reduced expression of d7 isoform|Schizophrenia	ICGC,
chr3	96991443	96991443	G	C	intronic	EPHA6	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5049610	-	LINC-JP|1|394|0.00254	-	-	behavior/neurological phenotype	Alzheimer disease  	COSMIC,ICGC,
chr18	58252273	58252273	T	A	intergenic	MC4R,CDH20	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16626868	-	PACA-CA|1|268|0.00373	-	-	hematopoietic system phenotype,-	Obesity, severe|Reduced activity|Reduced function   |Reduced transcriptional activity|Weight loss after gastric bypass surgery, association with|Obesity, protection against, association with|Obesity, early onset|Obesity, autosomal dominant, association with|Obesity, autosomal dominant|Obesity, association with.|Obesity|Melanocortin-4 receptor variant|Decreased body mass, association with,-	COSMIC,ICGC,
chr8	24950630	24950630	C	G	intergenic	NEFL,DOCK5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15289381	-	ESAD-UK|1|301|0.00332	-	-	nervous system phenotype,mortality/aging	NEFL variant|Hereditary motor & sensory neuropathy|Charcot-Marie-Tooth disease 2|Charcot-Marie-Tooth disease 1|Charcot-Marie-Tooth disease  |Axonal neuropathy, severe, early-onset|Altered promoter activity,Severe obesity, association with	COSMIC,ICGC,
chr7	123058457	123058457	C	T	intergenic	SLC13A1,IQUB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	skeleton phenotype,-	Schizophrenia,-	ICGC,
chr1	234839507	234839507	G	A	intergenic	LINC00184,LINC01132	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	80255061	80255061	G	A	intronic	CTNNA2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25990572	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Schizophrenia	COSMIC,ICGC,
chr6	106208079	106208079	G	A	intergenic	PREP,PRDM1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype,mortality/aging	-,Crohn's disease, increased risk, association with|Ulcerative colitis, reduced risk, association with  	ICGC,
chr13	62444997	62444997	A	G	intergenic	PCDH20,LINC00358	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr13	50785365	50785365	A	T	ncRNA_intronic	DLEU1	unknown	SNV	-	-	-	-	rs766201635	-	-	-	-	COSN7403774	-	PACA-AU|1|391|0.00256	-	-	-	-	COSMIC,ICGC,
chr13	83240326	83240326	A	T	intergenic	NONE,SLITRK1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-,mortality/aging	-,Trichotillomania|Tourette syndrome|Obsessive-compulsive disorder |Attention deficit hyperactivity disorder 	ICGC,
chr5	82818884	82818884	G	A	intronic	VCAN	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	mortality/aging	Gastric cancer, association with  |Retinitis pigmentosa|Tetralogy of Fallot|Wagner syndrome	ICGC,
chr2	128996104	128996104	C	T	intergenic	UGGT1,HS6ST1	unknown	SNV	-	-	-	0.1197	rs10200342	-	0.173922	-	0.167	-	-	LUSC-KR|1|170|0.00588	-	-	-,mortality/aging	-,Potential protein deficiency|Kallmann syndrome|Hypogonadotropic hypogonadism, idiopathic	ICGC,
chr8	108687571	108687571	C	G	intergenic	ANGPT1,RSPO2	unknown	SNV	-	-	-	0.4668	rs1494973	-	0.527356	-	0.449	-	-	LAML-KR|1|205|0.00488	-	-	mortality/aging,integument phenotype	Stroke, reduced risk, association with,Pancreatic cancer 	ICGC,
chr10	132298278	132298278	T	C	intergenic	GLRX3,MIR378C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	-,-	ICGC,
chr17	72096659	72096659	C	T	intergenic	LINC00469,RPL38	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16308729	-	LIRI-JP|1|258|0.00388	-	-	-,integument phenotype	-,-	COSMIC,ICGC,
chr3	161700809	161700809	G	A	intergenic	OTOL1,LINC01192	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr17	47582121	47582121	-	TCTTTTT	intronic	NGFR	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	integument phenotype	Alzheimer's disease, familial, association with|Depressive disorder, protection against, association with 	ICGC,
chr4	155811466	155811466	C	G	intergenic	RBM46,NPY2R	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Huntington disease, age at onset, association with|Severe obesity, in men, association with|Obesity, association with|Obesity |Increased expression levels|Hypertension reduced risk	ICGC,
chr7	56183773	56183773	C	A	exonic	NUPR1L	nonsynonymous	SNV	0.017	0.998	-	-	-	-	-	-	-	-	-	UCEC-US|1|250|0.00400	-	-	-	-	ICGC,
chr8	25203746	25203746	G	A	intronic	DOCK5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging	Severe obesity, association with	ICGC,
chr15	35519448	35519448	G	A	intergenic	ZNF770,ANP32AP1	unknown	SNV	-	-	-	0.0072	rs28876469	-	0.014377	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr11	85046894	85046894	C	T	intronic	DLG2	unknown	SNV	-	-	-	9.707e-05	rs182666466	-	0.000399361	-	-	COSN21096665	-	BRCA-EU|1|569|0.00176,PACA-AU|1|391|0.00256	-	-	integument phenotype	Schizophrenia and epilepsy|Myopathy  |Intellectual disability, autism and epilepsy|Hypochondriasis|Dysmorphic features & speech delay|Developmental delay and dysmorphic features|Developmental delay  	COSMIC,COSMIC,ICGC,
chr12	41746528	41746528	A	G	intronic	PDZRN4	unknown	SNV	-	-	-	0.3912	rs1405550	-	0.357029	-	0.428	-	-	LAML-KR|1|205|0.00488	-	-	-	-	ICGC,
chr1	191681569	191681569	A	G	intergenic	LOC440704,RGS18	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7193352	-	PACA-AU|1|391|0.00256	-	-	-,no phenotypic analysis	-,Potential protein deficiency	COSMIC,ICGC,
chr4	68984972	68984972	G	A	intronic	TMPRSS11F	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9795689	-	RECA-EU|1|422|0.00237	-	-	-	-	COSMIC,ICGC,
chr18	36722916	36722916	T	A	intergenic	MIR4318,LINC00669	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr14	63000618	63000618	G	A	intergenic	LINC00644,KCNH5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,behavior/neurological phenotype	-,Epileptic encephalopathy 	ICGC,
chr9	30860821	30860821	G	A	intergenic	LINC01242,ACO1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17675038	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,Schizophrenia	COSMIC,ICGC,
chr2	155645284	155645284	G	-	intronic	KCNJ3	unknown	deletion	-	-	-	0.0699	rs66942205	-	-	-	-	COSN23801650	-	ESAD-UK|1|301|0.00332,ORCA-IN|1|178|0.00562	-	-	cardiovascular system phenotype	Schizophrenia, association with  	COSMIC,ICGC,
chr13	66246859	66246859	T	G	intergenic	OR7E156P,PCDH9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr11	127465351	127465351	G	C	intergenic	LOC101929497,ETS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN14648492	-	PACA-CA|1|268|0.00373	-	-	-,mortality/aging	-,Systemic lupus erythematosus, association with	COSMIC,COSMIC,ICGC,
chr5	147383936	147383936	C	T	intergenic	C5orf46,SPINK5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,integument phenotype	-,Netherton syndrome|Immunodeficiency, primary  |Atopy, maternally inherited, association with|Asthma, association with	ICGC,
chr5	66903526	66903526	A	C	intergenic	CD180,LOC102467655	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	-,-	ICGC,
chr8	17824827	17824827	-	T	intronic	PCM1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	Schizophrenia, association with|Schizophrenia  	ICGC,
chr11	24143091	24143091	G	A	intergenic	MIR8054,LUZP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,normal phenotype	-,Anorectal malformation	ICGC,
chr7	57442188	57442188	C	T	intergenic	GUSBP10,MIR3147	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	58900322	58900322	G	A	intronic	PDE4D	unknown	SNV	-	-	-	9.709e-05	rs150247934	-	0.000199681	-	-	COSN24373380	-	-	-	-	mortality/aging	Psychomotor retardation, coarse facies & ocular anomalies|Intellectual disability syndrome with low body mass index & facial features|Acrodysostosis	COSMIC,
chr13	96222573	96222573	C	A	intronic	CLDN10	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6541109	-	PBCA-DE|1|499|0.00200	-	-	behavior/neurological phenotype	-	COSMIC,ICGC,
chr5	84471118	84471118	C	T	intergenic	EDIL3,NBPF22P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	immune system phenotype,-	Schizophrenia  ,-	ICGC,
chr1	220019981	220019981	G	A	intergenic	LYPLAL1,RNU5F-1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Cirrhosis, nonalcoholic steatohepatitis-related,-	ICGC,
chr3	46262843	46262843	C	T	intergenic	CCR1,CCR3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,hematopoietic system phenotype	Alzheimer's disease, association with,Impaired protein translocation|Aspirin-exacerbated respiratory disease, association with	ICGC,
chr12	94771900	94771900	A	G	intronic	CEP83	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22525367	-	BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr19	43183936	43183936	G	A	intergenic	LIPE-AS1,PSG3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr11	13598498	13598498	T	G	intergenic	PTH,FAR1	unknown	SNV	-	-	-	0.2092	rs10832070	-	0.279952	-	0.203	-	-	LAML-KR|2|205|0.00976	-	-	mortality/aging,-	Hypoparathyroidism,-	ICGC,
chr1	162584782	162584782	T	A	intergenic	UAP1,DDR2	unknown	SNV	-	-	-	0.0326	rs74116771	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,mortality/aging	-,Spondylo-meta-epiphyseal dysplasia, short limb-hand type	ICGC,
chr8	53478130	53478130	G	A	upstream	FAM150A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9659969	-	OV-AU|1|93|0.01075,MELA-AU|1|183|0.00546	-	-	-	-	COSMIC,ICGC,
chr12	115687019	115687019	T	C	intergenic	TBX3,MED13L	unknown	SNV	-	-	-	0.3741	rs7316378	-	0.335663	-	0.370	-	-	LAML-KR|1|205|0.00488	-	-	integument phenotype,-	Ulnar-mammary syndrome,Intellectual disability, nonsyndromic, no cardiac involvement|Hypotonia, learning difficulties & perimembranous ventricular septal defect|Hypotonia, intellectual disability, conotruncal heart defect & facial anomalies|Congenital heart defect|Colorectal cancer, increased risk, association with |Autism	ICGC,
chr20	59186010	59186010	C	T	intergenic	MIR4533,LOC100506470	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8002096	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	COSMIC,ICGC,
chr6	21470567	21470567	C	T	intergenic	CDKAL1,LINC00581	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20816077	-	BRCA-EU|1|569|0.00176	-	-	cellular phenotype,-	Hyperinsulism,-	COSMIC,ICGC,
chr6	55846427	55846427	G	A	intergenic	BMP5,COL21A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Microtia |Osteoarthritis, susceptibility, association with,-	ICGC,
chr1	144542429	144542429	A	G	intronic	NBPF20	unknown	SNV	-	-	-	0.4964	rs513833	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr10	15059099	15059099	C	T	intergenic	MEIG1,OLAH	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	194036557	194036557	CC	AT	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr1	4930804	4930804	G	C	intergenic	AJAP1,MIR4417	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	UTCA-FR|1|20|0.05000	-	-	-,-	-,-	ICGC,
chr4	144660215	144660215	C	T	intergenic	FREM3,GYPE	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17294175	-	ESAD-UK|1|301|0.00332	-	-	-,-	Autism ,Autism spectrum disorder, association with	COSMIC,ICGC,
chr7	124876178	124876178	A	G	ncRNA_intronic	LOC101928254,LOC101928283	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr14	73023874	73023874	C	T	intronic	RGS6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	cardiovascular system phenotype	Increased protein expression	ICGC,
chr10	92675530	92675530	G	T	intronic	ANKRD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	muscle phenotype	Total anomalous pulmonary venous return|Neurodevelopmental disorder and renal disease |Neurodevelopmental disorder  |Dilated cardiomyopathy|Cardiomyopathy, hypertrophic|Cardiomyopathy, dilated	ICGC,
chr18	59386602	59386602	C	T	intergenic	CDH20,LOC100996669	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr6	33160616	33160616	T	G	downstream	COL11A2	unknown	SNV	-	-	-	-	rs569644387	-	-	-	-	COSN17435930	-	SKCA-BR|1|100|0.01000	-	-	skeleton phenotype	Otospondylomegaepiphyseal dysplasia|Robin sequence|Sensorineural hearing loss, nonsyndromic  |Stickler syndrome II|Stickler syndrome, without eye involvement|Weissenbacher-Zweymuller syndrome|Osteochondrodysplasia|Osteoarthritis, early-onset|Deafness  |Deafness, autosomal dominant 13|Fibrochondrogenesis|Micrognathia|Non-syndromic hearing loss, autosomal recessive|Ossification, protection against, association with	COSMIC,ICGC,
chr10	18533885	18533885	G	A	intronic	CACNB2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	mortality/aging	Schizophrenia  |Rapid ventricular tachycardia & intraventricular conduction delay|Early repolarization syndrome|Cardiac arrhythmia|Brugada syndrome (shorter-than-normal QT interval)|Brugada syndrome|Aortic regurgutation|Altered function|Ventricular fibrillation, idiopathic	ICGC,
chr19	21978646	21978646	G	A	intergenic	ZNF100,ZNF43	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr22	49898639	49898639	C	T	intergenic	LINC01310,NONE	unknown	SNV	-	-	-	3.23e-05	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	ICGC,
chr13	24514806	24514806	C	T	ncRNA_intronic	ANKRD20A19P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PEME-CA|1|112|0.00893	-	-	-	-	ICGC,
chr10	103290025	103290025	T	C	intronic	BTRC	unknown	SNV	-	-	-	3.231e-05	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Split hand/foot malformation 3|Hepatocellular carcinoma, reduced risk, association with	ICGC,
chrX	99287775	99287775	C	T	intergenic	XRCC6P5,PCDH19	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Tonic seizures|Seizures|Generalized tonic-clonic seizures|Focal seizures with secondary generalization|Focal epilepsy|Epileptic encephalopathy|Epilepsy, early-onset|Epilepsy and mental retardation limited to females|Epilepsy & mental retardation|Dravet syndrome  |Asperger syndrome	ICGC,
chr22	23217650	23217650	A	G	intergenic	MIR650,IGLL5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	ICGC,
chr19	30726166	30726166	G	A	intergenic	URI1,ZNF536	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5436720	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,Schizophrenia	COSMIC,ICGC,
chr3	1703554	1703554	C	A	intergenic	CNTN6,CNTN4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7834980	-	PACA-AU|1|391|0.00256	-	-	behavior/neurological phenotype,nervous system phenotype	Intellectual disability  ,Spinocerebellar ataxia 16 |Features of 3p deletion syndrome|Autism spectrum disorder |Autism	COSMIC,ICGC,
chr14	84158863	84158863	C	T	intergenic	NONE,LINC00911	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	51005495	51005495	G	T	intergenic	ISL1,PELO	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,mortality/aging	Cardiomyopathy, dilated|Diabetes, type 2|Intellectual and developmental disabilities,-	ICGC,
chr5	6027187	6027187	A	T	intergenic	ICE1,FLJ33360	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15406889	-	PRAD-UK|1|140|0.00714	-	-	-,-	-,-	COSMIC,ICGC,
chr15	38663691	38663691	T	C	intergenic	SPRED1,FAM98B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype,-	Cafe-au-lait macules|Legius syndrome|Neurofibromatosis 1-like syndrome,-	ICGC,
chr10	75415935	75415935	C	T	upstream	SYNPO2L	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr3	16439095	16439095	A	T	intronic	RFTN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CN|1|65|0.01538	-	-	hematopoietic system phenotype	-	ICGC,
chr1	22966736	22966736	G	A	downstream	C1QA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	mortality/aging	Subacute cutaneous lupus erythematosus, association with |Differential expression, association with|C1Q deficiency, type A|Breast cancer metastasis, association with	ICGC,
chr9	132489453	132489453	-	T	intergenic	PRRX2,PTGES	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN18765634	-	-	-	-	mortality/aging,integument phenotype	-,-	COSMIC,
chr9	78054292	78054292	G	A	intergenic	OSTF1,MIR548H3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr8	101222089	101222089	T	C	intronic	SPAG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	Primary ciliary dyskinesia  	ICGC,
chr6	165538029	165538029	T	C	intergenic	QKI,C6orf118	unknown	SNV	-	-	-	0.0512	rs62444058	-	0.0291534	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging,-	6q terminal deletion syndrome,-	ICGC,
chr7	126500009	126500009	C	G	intronic	GRM8	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9922412	-	RECA-EU|1|422|0.00237	-	-	behavior/neurological phenotype	Attention deficit hyperactivity disorder|Autism spectrum disorder  	COSMIC,ICGC,
chr11	72613071	72613071	G	A	intronic	FCHSD2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr11	109428057	109428061	ACACG	-	intergenic	C11orf87,ZC3H12C	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|2|100|0.02000	-	-	-,-	-,-	ICGC,
chr3	51051684	51051684	C	T	intronic	DOCK3	unknown	SNV	-	-	-	6.458e-05	-	-	-	-	-	COSN6769725	-	LIRI-JP|1|258|0.00388	-	-	immune system phenotype	Attention deficit hyperactivity disorder	COSMIC,ICGC,
chr4	156276946	156276946	T	C	exonic	MAP9	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM6707728	-	-	-	-	-	-	COSMIC,
chr15	98296119	98296119	C	T	ncRNA_intronic	LINC00923	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr4	14582070	14582070	A	G	intergenic	LINC01085,CPEB2-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1996932	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,COSMIC,ICGC,
chr3	76453314	76453314	A	G	intergenic	ZNF717,ROBO2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,mortality/aging	Potential protein deficiency,Autism spectrum disorder  |Urinary tract anomalies|Vesicoureteral reflux	ICGC,
chr1	234372503	234372503	C	T	intronic	SLC35F3	unknown	SNV	-	-	-	0.0002	-	-	-	-	-	COSN21768051	-	BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr16	64639414	64639414	G	A	intergenic	NONE,CDH11	unknown	SNV	-	-	-	6.497e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,-	ICGC,
chr16	3351709	3351709	A	T	UTR5	TIGD7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-	-	ICGC,
chr11	23654156	23654156	C	T	intergenic	MIR8054,LUZP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,normal phenotype	-,Anorectal malformation	ICGC,
chr9	111851958	111851958	A	G	intronic	TMEM245	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr19	46568587	46568596	CTTTTCTTTT	-	intergenic	IGFL4,IGFL3	unknown	deletion	-	-	-	-	-	-	-	-	0.094	-	-	LMS-FR|2|67|0.02985	-	-	-,-	-,-	ICGC,
chr8	39416409	39416409	G	A	intergenic	ADAM3A,LOC100130964	unknown	SNV	-	-	-	0	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	reproductive system phenotype,-	-,-	ICGC,
chr7	98428378	98428378	T	C	intergenic	NPTX2,TMEM130	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6900791	-	LIRI-JP|1|258|0.00388	-	-	vision/eye phenotype,-	-,-	COSMIC,ICGC,
chr22	16139309	16139309	T	C	intergenic	NONE,DUXAP8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr1	11747072	11747072	C	T	intronic	MAD2L2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	-	ICGC,
chr12	71118619	71118619	A	C	intronic	PTPRR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	behavior/neurological phenotype	-	ICGC,
chr15	71055677	71055677	C	T	exonic	UACA	nonsynonymous	SNV	0.598	0.003	-	-	-	-	-	-	-	COSM5949266	-	MALY-DE|1|241|0.00415	-	-	integument phenotype	Colorectal cancer |Schizophrenia	COSMIC,ICGC,
chr2	155311715	155311715	G	C	intronic	LOC100144595	unknown	SNV	-	-	-	0.0025	rs187450536	-	0.000998403	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	-	ICGC,
chr1	87497541	87497541	A	C	intronic	HS2ST1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	mortality/aging	-	ICGC,
chr2	158195269	158195269	T	G	intergenic	ERMN,CYTIP	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,hematopoietic system phenotype	-,-	ICGC,
chr5	72899638	72899638	T	-	intergenic	UTP15,ARHGEF28	unknown	deletion	-	-	-	6.457e-05	rs796956991	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,Amyotrophic lateral sclerosis  	ICGC,
chr11	85534980	85534980	C	A	intergenic	SYTL2,CCDC83	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1547352	-	LIRI-JP|1|258|0.00388	-	-	digestive/alimentary phenotype,-	-,-	COSMIC,ICGC,
chr21	9467037	9467037	C	A	intergenic	NONE,MIR3648-1	unknown	SNV	-	-	-	0.0045	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr1	221310341	221310341	T	A	intergenic	HLX,C1orf140	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21872862	-	BRCA-EU|1|569|0.00176	-	-	integument phenotype,-	Asthma, association with|Diaphragmatic hernia, congenital ,-	COSMIC,ICGC,
chr1	195107453	195107453	G	T	intergenic	CDC73,KCNT2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8415910	-	OV-AU|1|93|0.01075	-	-	integument phenotype,-	Potential protein deficiency|Parathyroid carcinoma/adenoma|Parathyroid carcinoma.|Parathyroid carcinoma|Parathyroid cancer|Parathyroid adenoma.|Parathyroid adenoma |Hyperparathyroidism, primary.|Hyperparathyroidism, primary|Hyperparathyroidism, isolated|Hyperparathyroidism-jaw tumour syndrome.|Hyperparathyroidism-jaw tumour syndrome,-	COSMIC,ICGC,
chr8	11542243	11542243	G	A	intergenic	LINC00208,GATA4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Coronary heart disease, lower risk|Gonadal dysgenesis |Hypoplastic left heart syndrome|Left ventricular noncompaction  |Lone atrial fibrillation|Tetralogy of Fallot|Ventricular septal defect|Ventricular septal defect.|Conoventricular septal defect|Congenital heart defects|46,XY disorder of sex development |A-V canal|Atrial fibrillation|Atrial septal defect|Atrial septal defect and pulmonary valve stenosis|Cardiomyopathy, dilated|Congenital diaphragmatic hernia|Congenital diaphragmatic hernia & heart defects	ICGC,
chr1	97370317	97370317	G	A	intergenic	PTBP2,DPYD	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	-,Schizophrenia  |Reduced enzyme activity|Intellectual disability and autism|Intellectual disability  |Increased enzyme activity|Fluoropyrimidine-related toxicity, association with|Dihydropyrimidine dehydrogenase deficiency, partial|Dihydropyrimidine dehydrogenase deficiency|Autism spectrum disorder  	ICGC,
chr7	125997135	125997135	A	T	intergenic	LOC101928283,GRM8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,behavior/neurological phenotype	-,Attention deficit hyperactivity disorder|Autism spectrum disorder  	ICGC,
chr17	70299913	70299913	A	T	intergenic	SOX9,LINC00673	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	integument phenotype,-	Female-to-male ovotesticular disorder of sex development|Gonadal dysgenesis |Male-to-female disorder of sex development|Pierre Robin sequence|Pierre Robin sequence & hypoplastic left scapula|Prostate cancer, association with |Robin sequence, hypoplastic scapulae & rib anomalies|XY gonadal dysgenesis|XY sex reversal  |Disorder of sex development without campomelic dysplasia|Campomelic dysplasia with XY reversal|46,XX developmental testicular disorder|46,XX, SRY negative infertility|Acampomelic campomelic dysplasia|Acampomelic campomelic dysplasia with true hermaphroditism|Acampomelic campomelic dysplasia with XY reversal|Altered transcription factor binding|Brachydactyly-anonychia|Campomelic dysplasia|Campomelic dysplasia with small patella syndrome,-	ICGC,
chr12	101516009	101516009	G	A	intronic	ANO4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr6	160210089	160210089	G	T	intronic	TCP1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22416059	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	-	Schizophrenia, association with 	COSMIC,COSMIC,ICGC,
chr3	117899122	117899122	G	A	intergenic	LINC00901,IGSF11	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN18796222	-	-	-	-	-,-	-,-	COSMIC,
chr7	48212351	48212351	C	T	intronic	ABCA13	unknown	SNV	-	-	-	-	rs545732032	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-	Schizophrenia / depression|Schizophrenia / bipolar disorder / depression |Schizophrenia  |Bipolar disorder  |Autism|Anorectal malformation	ICGC,
chr1	82349478	82349478	C	A	intronic	LPHN2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23199815	-	MALY-DE|1|241|0.00415	-	-	mortality/aging	Schizophrenia	COSMIC,ICGC,
chr3	191488873	191488873	T	C	intergenic	LINCR-0002,FGF12	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1938393	-	LIRI-JP|1|258|0.00388	-	-	-,behavior/neurological phenotype	-,-	COSMIC,ICGC,
chr4	154655511	154655511	G	T	intronic	RNF175	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-	-	ICGC,
chr8	121468481	121468481	A	G	intronic	MTBP	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9594067	-	OV-AU|1|93|0.01075	-	-	mortality/aging	-	COSMIC,ICGC,
chr4	29128953	29128953	G	A	intergenic	MIR4275,PCDH7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr21	39328892	39328892	T	C	intergenic	KCNJ6,DSCR4	unknown	SNV	-	-	-	0.3044	rs6517443	-	0.243211	-	0.297	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	Increased opioid requirements, association with|Increased postoperative analgesic requirements, association with,-	ICGC,
chr18	33283305	33283305	A	G	intronic	GALNT1	unknown	SNV	-	-	-	0.0135	rs117509003	-	0.00479233	-	0.007	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	-	ICGC,
chr4	187313791	187313791	C	A	ncRNA_intronic	F11-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23793800	-	ORCA-IN|1|178|0.00562	-	-	-	-	COSMIC,ICGC,
chr5	38177366	38177366	G	A	intergenic	GDNF-AS1,EGFLAM	unknown	SNV	-	-	-	0.0014	rs141088099	-	0.0147764	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,vision/eye phenotype	-,-	ICGC,
chr15	89801433	89801433	T	C	intronic	FANCI	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	Fanconi anaemia	ICGC,
chr13	79578856	79578856	G	A	intergenic	LINC00331,RBM26	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr6	141117023	141117023	T	C	intergenic	MIR4465,NMBR	unknown	SNV	-	-	-	0.4580	rs2143604	-	0.48123	-	0.551	-	-	ESAD-UK|1|301|0.00332	-	-	-,behavior/neurological phenotype	-,-	ICGC,
chr2	169787320	169787320	G	T	exonic	ABCB11	nonsynonymous	SNV	0.001	0.987	-	-	-	-	-	-	-	COSM1176833	-	-	-	-	growth/size phenotype	Intrahepatic cholestasis, familial progressive ?|Intrahepatic cholestasis, familial progressive 2|Intrahepatic cholestasis, familial progressive, association with |Obstetric cholestasis.|Oestrogen-induced cholestasis, association with|Primary biliary cirrhosis, association with|Prolonged neonatal hepatitis|Reduced transport activity|Spherocytosis and intrahepatic cholestasis|Transient neonatal cholestasis|Intrahepatic cholestasis, familial progressive |Intrahepatic cholestasis, familial benign|Intrahepatic cholestasis, benign recurrent 2 |Alternate splicing|Cholestasis, drug-induced|Cholestasis, drug-induced ?|Cholestasis, drug-induced, association with|Cholestasis, intrahepatic|Increased mature protein levels|Intrahepatic cholestasis |Intrahepatic cholestasis of pregnancy|Intrahepatic cholestasis of pregnancy.|Intrahepatic cholestasis, benign recurrent 	COSMIC,
chr7	41619803	41619803	C	T	intergenic	LINC01449,INHBA	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16763723	-	PACA-CA|1|268|0.00373	-	-	-,integument phenotype	-,Ovarian epithelial tumours, early onset	COSMIC,COSMIC,ICGC,
chr1	195762323	195762323	C	T	intergenic	NONE,KCNT2	unknown	SNV	-	-	-	-	rs537806692	-	0.000399361	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	130373579	130373579	C	T	intergenic	CHSY3,HINT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|3|183|0.01639	-	-	-,cellular phenotype	-,Axonal neuropathy with neuromyotonia	ICGC,
chr13	99176358	99176358	G	A	intronic	STK24	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr21	33538267	33538267	T	C	intergenic	LINC00159,MIS18A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,mortality/aging	-,-	ICGC,
chr12	89327353	89327353	A	C	intergenic	KITLG,LOC728084	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21310657	-	BRCA-EU|1|569|0.00176	-	-	integument phenotype,-	Progressive hyperpigmentation|Progressive hyper- and hypopigmentation|Cancer, susceptibility to,-	COSMIC,ICGC,
chr22	49825062	49825062	G	C	intergenic	LINC01310,NONE	unknown	SNV	-	-	-	0.2276	rs136788	-	0.199281	-	0.196	-	-	ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488	-	-	-,-	-,-	ICGC,
chr1	214176842	214176842	C	A	intronic	PROX1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16836311	-	PACA-CA|1|268|0.00373	-	-	mortality/aging	-	COSMIC,ICGC,
chr21	26739758	26739758	G	A	intergenic	LOC339622,LINC00158	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr18	59064641	59064641	C	A	intergenic	MC4R,CDH20	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	hematopoietic system phenotype,-	Obesity, severe|Reduced activity|Reduced function   |Reduced transcriptional activity|Weight loss after gastric bypass surgery, association with|Obesity, protection against, association with|Obesity, early onset|Obesity, autosomal dominant, association with|Obesity, autosomal dominant|Obesity, association with.|Obesity|Melanocortin-4 receptor variant|Decreased body mass, association with,-	ICGC,
chr7	81635083	81635083	T	C	exonic	CACNA2D1	nonsynonymous	SNV	0.051	0.036	-	-	-	-	-	-	-	-	DLBC|1|48|0.02083	-	-	-	behavior/neurological phenotype	Short QT syndrome|Schizophrenia  |Histiocytoid cardiomyopathy|Epileptic encephalopathy  |Brugada syndrome    	TCGA,
chr3	109312315	109312315	C	T	intergenic	LINC01205,PVRL3-AS1	unknown	SNV	-	-	-	0.0003	rs775764469	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr8	103771046	103771046	-	T	intergenic	KLF10,AZIN1	unknown	insertion	-	-	-	0.1613	rs145280170	-	0.203075	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,mortality/aging	Cardiomyopathy, hypertrophic,Fibrosis progression in hepatitis C infection, protection against	ICGC,
chr16	17594890	17594890	G	A	intergenic	XYLT1,NPIPA7	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16311946	-	LIRI-JP|1|258|0.00388	-	-	-,-	Decreased serum glycosaminoglycan levels, association with|Desbuquois dysplasia type 2|Diabetes, type 1, protection, association |Diabetic nephropathy protection |Increased serum XT1 activity in pseudoxanthoma elasticum, association|Short stature & intellectual disability,-	COSMIC,ICGC,
chr19	31982940	31982940	T	G	intergenic	TSHZ3,THEG5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	integument phenotype,-	-,-	ICGC,
chr5	20832984	20832984	G	A	intergenic	CDH18,GUSBP1	unknown	SNV	-	-	-	0.2054	rs10037791	-	0.220847	-	0.225	COSN27609028	-	ESAD-UK|1|301|0.00332,SKCA-BR|1|100|0.01000	-	-	-,-	Anorectal malformation,-	COSMIC,ICGC,
chr20	61165712	61165712	G	A	intronic	C20orf166	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr7	115483617	115483617	A	T	intergenic	LINC01393,TFEC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,-	ICGC,
chrX	49055579	49055579	G	C	ncRNA_exonic	SYP-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|2|170|0.01176	-	-	-	-	ICGC,
chr14	89747288	89747288	A	G	intronic	FOXN3	unknown	SNV	-	-	1.632e-05	-	rs563356977	2.619e-05	-	-	-	-	-	GACA-JP|1|585|0.00171	-	-	-	-	ICGC,
chr1	52613780	52613780	T	C	intronic	ZFYVE9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr9	2940996	2940996	G	-	intergenic	KIAA0020,LINC01231	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	ICGC,
chr7	49953593	49953593	G	A	intergenic	VWC2,ZPBP	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,reproductive system phenotype	-,Teratozoospermia 	ICGC,
chr4	144884668	144884668	T	C	intergenic	GYPE,GYPB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	Autism spectrum disorder, association with,Blood group variation|Ss blood group variation	ICGC,
chr8	60287856	60287856	A	T	intergenic	TOX,CA8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	hematopoietic system phenotype,behavior/neurological phenotype	Pulmonary tuberculosis, association  with,Ataxia, cerebellar hypoplasia|Cerebellar ataxia and quadrupedal locomotion|Cerebellar ataxia, mental retardation & dysequilibrium syndrome 3	ICGC,
chr5	37125264	37125264	G	T	intronic	C5orf42	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	Joubert syndrome|Monomelic amyotrophy, association with|Oral-facial-digital syndrome type VI|Schizophrenia  	ICGC,
chr11	104872760	104872760	C	T	exonic	CASP5	nonsynonymous	SNV	0.002	0.997	-	-	-	-	-	-	-	COSM357493	-	-	-	-	-	Lung cancer, association with	COSMIC,
chr1	602579	602579	G	A	intergenic	MIR6723,OR4F29	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	-,-	ICGC,
chr6	141978208	141978208	C	T	intergenic	MIR4465,NMBR	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5622697	-	LIRI-JP|1|258|0.00388	-	-	-,behavior/neurological phenotype	-,-	COSMIC,COSMIC,ICGC,
chr9	47199813	47199813	G	A	intergenic	LINC01189,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr15	25035182	25035182	G	A	intergenic	NPAP1,SNRPN	unknown	SNV	-	-	-	3.227e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Prader-Willi syndrome|Asperger syndrome|Angelman syndrome	ICGC,
chr9	106398193	106398193	T	-	intergenic	LOC101928496,LOC101928523	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312,CLLE-ES|1|510|0.00196	-	-	-,-	-,-	ICGC,
chr6	103727654	103727654	A	G	intergenic	GRIK2,HACE1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	behavior/neurological phenotype,tumorigenesis	Mental retardation, non-syndromic, autosomal recessive,Wilms tumour 	ICGC,
chr5	15642456	15642456	C	T	intronic	FBXL7	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6869621	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr15	27346311	27346311	A	G	intronic	GABRG3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	Potential protein deficiency	ICGC,
chr5	100005796	100005796	T	A	intergenic	FAM174A,ST8SIA4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,-	ICGC,
chr22	36117409	36117409	G	A	intronic	APOL5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-	Schizophrenia	ICGC,
chr17	69229245	69229245	A	T	intergenic	CASC17,LOC102723505	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr19	280299	280299	T	C	downstream	PPAP2C	unknown	SNV	-	-	-	0.2620	rs11878315	-	0.255591	-	0.210	COSN17971554	-	SKCA-BR|1|100|0.01000	-	-	normal phenotype	-	COSMIC,ICGC,
chr2	76673337	76673337	A	G	intergenic	GCFC2,LRRTM4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr4	125160916	125160916	G	T	intergenic	LINC01091,LOC101927087	unknown	SNV	-	-	-	0.0346	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr1	239746356	239746356	C	T	intergenic	LINC01139,CHRM3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15089790	-	ESAD-UK|1|301|0.00332	-	-	-,vision/eye phenotype	-,Autistic disorder|Bladder malformation|Diabetes, type 2, increased risk, association |Tetralogy of Fallot	COSMIC,ICGC,
chr4	138664421	138664421	C	T	intergenic	PCDH18,LINC00616	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Intellectual disability  ,-	ICGC,
chr9	84528285	84528285	T	C	upstream	SPATA31D5P	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9318746	-	LUSC-KR|1|170|0.00588	-	-	-	-	COSMIC,ICGC,
chr5	32899999	32899999	C	A	intergenic	NPR3,LOC340113	unknown	SNV	-	-	-	0.1867	rs77353670	-	0.219848	-	0.246	-	-	LAML-KR|1|205|0.00488	-	-	mortality/aging,-	Diastolic dysfunction, association with|Lower ANP in obese hypertensives, association |Reduced protein expression,-	ICGC,
chr2	174881145	174881145	C	A	intergenic	SP3,OLA1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN4799281	-	MALY-DE|1|241|0.00415	-	-	integument phenotype,-	-,-	COSMIC,ICGC,
chrX	99065515	99065515	A	C	ncRNA_intronic	XRCC6P5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr5	3712027	3712027	G	A	intergenic	IRX1,LOC101929153	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	-,-	ICGC,
chr6	156002828	156002828	G	A	intergenic	NOX3,ARID1B	unknown	SNV	-	-	-	0.0018	rs113801946	-	0.00259585	-	0.007	COSN7786528	-	PACA-CA|1|268|0.00373	-	-	behavior/neurological phenotype,-	-,Schizophrenia|Nicolaides-Baraitser syndrome|Intellectual disability, plantar fat pads & facial dysmorphism|Intellectual disability, corpus callosum abnormalities, speech impairment & autism|Intellectual disability & speech impairment|Intellectual disability & agenesis of corpus callossum|Intellectual disability  |Developmental delay, dysmorphic features, dysgenesis of the corpus callosum, limb anomalies & genital hypoplasia|Coffin-Siris syndrome|Autism?|Autism spectrum disorder|Autism	COSMIC,ICGC,
chr3	182960470	182960470	G	A	intronic	MCF2L2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Diabetic nephropathy, association with  	ICGC,
chr13	105762642	105762642	T	-	intergenic	MIR548AS,DAOA-AS1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr18	27304369	27304369	C	A	intergenic	CDH2,MIR302F	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24784022	-	GACA-CN|1|123|0.00813	-	-	mortality/aging,-	Reduced expression|Potential protein deficiency|Alzheimer disease  ,-	COSMIC,ICGC,
chrX	78455080	78455080	T	G	intergenic	GPR174,ITM2A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	-,-	Graves' disease, increased risk|Graves' disease ,-	ICGC,
chr17	30644333	30644333	C	T	intronic	RHBDL3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr5	143886468	143886468	G	A	intergenic	KCTD16,PRELID2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr8	84277950	84277950	T	C	intergenic	SNX16,LINC01419	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24818126	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	COSMIC,ICGC,
chr2	135351380	135351380	T	-	intronic	TMEM163	unknown	deletion	-	-	-	0.0609	rs199837410	-	-	-	-	COSN27550550	-	BTCA-SG|11|71|0.15493	-	-	-	-	COSMIC,COSMIC,COSMIC,COSMIC,COSMIC,COSMIC,COSMIC,COSMIC,ICGC,
chr18	45677282	45677282	G	A	intergenic	ZBTB7C,CTIF	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	cellular phenotype,-	-,-	ICGC,
chr15	79789642	79789642	C	T	intergenic	KIAA1024,MTHFS	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,Autism	ICGC,
chr8	32229276	32229276	C	T	intronic	NRG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Sudden cardiac death, association with|Schizophrenia, association with  |Schizophrenia in African Americans, association with|Prepulse inhibition, association with|Perceptual aberration of schizotypal personality, association with|Increased lateral ventricle volume in schizophrenia|Hirschsprung disease|Developmental delay, hypotonia & microcephaly|Alzheimers disease, association with	ICGC,
chr6	89627133	89627133	T	C	intronic	RNGTT	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1338131	-	LINC-JP|1|394|0.00254	-	-	-	-	COSMIC,ICGC,
chr4	154870457	154870461	TTACC	-	intergenic	SFRP2,DCHS2	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	mortality/aging,-	-,Schizophrenia	ICGC,
chr6	114837554	114837554	C	T	intergenic	HS3ST5,FRK	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,homeostasis/metabolism phenotype	-,Potential protein deficiency	ICGC,
chr1	102424141	102424141	C	G	intronic	OLFM3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-	-	ICGC,
chr7	94786251	94786251	G	A	intronic	PPP1R9A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5667531	-	LIRI-JP|1|258|0.00388	-	-	behavior/neurological phenotype	-	COSMIC,ICGC,
chr17	77089048	77089048	C	T	intronic	RBFOX3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Developmental delay  |Epilepsy, rolandic  	ICGC,
chr20	7510866	7510866	G	A	intergenic	MIR8062,HAO1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr6	22308808	22308808	T	G	intergenic	PRL,HDGFL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Rheumatoid arthritis susceptibility, association with|Schizophrenia, association with|Systemic lupus erythematosus, association with,-	ICGC,
chr3	59605843	59605843	C	T	intergenic	C3orf67,FHIT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,-	ICGC,
chr17	60614704	60614704	A	G	intronic	TLK2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	Schizophrenia  	ICGC,
chr21	31047692	31047692	T	-	intronic	GRIK1	unknown	deletion	-	-	-	0.0038	-	-	-	-	-	COSN27419703	-	BTCA-SG|3|71|0.04225	-	-	integument phenotype	Lung cancer, susceptibility to, association with|Juvenile absence epilepsy, association with 	COSMIC,ICGC,
chr2	139157382	139157382	G	A	intergenic	HNMT,SPOPL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Urticaria, chronic, aspirin intolerant, reduced risk, association with|Parkinson disease, association with|Non-atopic dermatitis, association with|Lower HNMT level, association with|Essential tremor, association with|Atopic dermatitis, reduced risk|Atopic dermatitis, association with|Asthma, association with,-	ICGC,
chrX	140735957	140735957	G	A	ncRNA_intronic	SPANXA2-OT1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22225800	-	BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr13	73726104	73726104	G	T	intergenic	KLF5,LINC00392	unknown	SNV	-	-	-	0.1793	rs56977717	-	0.147564	-	0.232	COSN6632878	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	Hypertension, association with,-	COSMIC,ICGC,
chr4	71235024	71235024	C	A	intergenic	SMR3A,SMR3B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27677682	-	NKTL-SG|1|50|0.02000	-	-	-,-	-,-	COSMIC,ICGC,
chr7	124058923	124058923	C	T	intergenic	LOC101928211,GPR37	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LAML-KR|1|205|0.00488	-	-	-,behavior/neurological phenotype	-,Autism spectrum disorder  	ICGC,
chr10	31512397	31512397	T	G	intergenic	ZNF438,ZEB1-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chrX	43085305	43085305	C	T	ncRNA_exonic	LOC101927501	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr6	102575452	102575452	C	T	intergenic	GRIK2,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	behavior/neurological phenotype,-	Mental retardation, non-syndromic, autosomal recessive,-	ICGC,
chrX	215960	215960	C	T	exonic	PLCXD1	synonymous	SNV	-	-	0.0008	0.0023	rs140928586	0.0009	0.00159744	0.0028	-	COSM6896413	LUAD|1|543|0.00184	-	-	-	-	-	COSMIC,COSMIC,TCGA,
chr6	122185782	122185782	G	T	intergenic	GJA1,HSF2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,mortality/aging	Sudden infant death syndrome |Oculodentodigital dysplasia with primary lymphoedema|Oculodentodigital dysplasia|Neurologic dysfunction|Heart malformations|Hallerman-Streiff/ODDD syndrome|Ectodermal & oculodentodigital dysplasia with skin hyperkeratosis|Attenuated phenotype in glaucoma |Cleft lip in oculodentodigital dysplasia.|Craniometaphyseal dysplasia|Deafness|Deafness, autosomal recessive,Idiopathic azoospermia	ICGC,
chr4	163770852	163770852	G	A	intergenic	FSTL5,NAF1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	Schizophrenia  |Rolandic epilepsy ,-	ICGC,
chr16	15397987	15397987	G	A	intergenic	MIR3180-4,NPIPA5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr12	126445124	126445124	C	T	ncRNA_intronic	LINC00939	unknown	SNV	-	-	-	0.0688	rs142028633	-	0.113019	-	0.065	-	-	LAML-KR|1|205|0.00488	-	-	-	-	ICGC,
chr5	171047173	171047173	G	A	intergenic	FGF18,SMIM23	unknown	SNV	-	-	-	0.0003	rs531599702	-	0.000399361	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	-,-	ICGC,
chr3	165818311	165818311	T	A	intergenic	BCHE,ZBBX	unknown	SNV	-	-	-	0.1254	rs73171073	-	0.100839	-	0.116	-	-	LAML-KR|1|205|0.00488	-	-	mortality/aging,-	Serum cholinesterase deficiency|Potential protein deficiency|Obesity and triglyceride levels, association with|Hypocholinesterasaemia|Fronto-temporal dementia, association with|Cholinesterasaemia|Butyrylcholinesterase variant|Butyrylcholinesterase deficiency|Addiction to crack cocaine, association with|Acholinesterasaemia,-	ICGC,
chr2	151974728	151974728	C	T	intergenic	LOC101929282,RBM43	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Autism spectrum disorder	ICGC,
chr3	176092797	176092797	T	C	intergenic	NAALADL2,LINC01208	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21217810	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr10	59972416	59972416	T	A	intronic	IPMK	unknown	SNV	-	-	-	0.3552	rs2153282	-	0.398562	-	0.406	COSN19641157	-	LAML-KR|2|205|0.00976	-	-	mortality/aging	-	COSMIC,ICGC,
chr4	157090634	157090634	A	T	intergenic	CTSO,PDGFC	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23297972	-	MALY-DE|1|241|0.00415	-	-	-,integument phenotype	-,Ovarian cancer, poor survival, association with|Cleft lip with or without cleft palate, association|Bilateral cleft lip & thumb polydactyly	COSMIC,ICGC,
chr2	80216084	80216084	T	C	intronic	CTNNA2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Schizophrenia	ICGC,
chr14	88935986	88935986	C	A	exonic	PTPN21	nonsynonymous	SNV	0.012	0.999	-	-	-	-	-	-	-	COSM6481421	-	-	-	-	-	Graves' disease, age of onset, association with|Schizophrenia, reduced risk, association with 	COSMIC,
chr3	74173164	74173164	A	G	intergenic	PDZRN3-AS1,CNTN3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ORCA-IN|1|178|0.00562	-	-	-,-	-,-	ICGC,
chr20	56852090	56852090	G	A	ncRNA_intronic	PPP4R1L	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-	-	ICGC,
chr1	4377005	4377005	C	T	intergenic	LINC01346,LOC284661	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr11	71233650	71233650	C	G	intergenic	NADSYN1,KRTAP5-7	unknown	SNV	-	-	-	0.0009	rs11234017	-	-	-	-	COSN20302751	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	COSMIC,ICGC,
chr11	111814939	111814939	C	T	intronic	DIXDC1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr12	76763077	76763077	G	A	exonic	OSBPL8	stopgain	SNV	-	-	8.591e-06	-	rs778309276	1.66e-05	-	-	-	COSM6284810	-	LICA-CN|1|402|0.00249	-	-	-	-	COSMIC,ICGC,
chr15	21885375	21885375	G	A	intergenic	LINC01193,LOC646214	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr5	114028045	114028045	C	T	intergenic	KCNN2,TRIM36	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype,-	-,-	ICGC,
chr8	38760554	38760554	G	A	intronic	PLEKHA2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	cardiovascular system phenotype	-	ICGC,
chr18	14862017	14862017	C	G	intergenic	ANKRD30B,LINC01443	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	ICGC,
chr5	109526270	109526270	C	A	intergenic	LOC100289673,TMEM232	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN4841978	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	COSMIC,ICGC,
chr4	182750490	182750490	T	G	intergenic	LINC00290,MGC45800	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23268764	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	COSMIC,ICGC,
chr3	1512506	1512506	A	G	intergenic	CNTN6,CNTN4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5523844	-	LIRI-JP|1|258|0.00388	-	-	behavior/neurological phenotype,nervous system phenotype	Intellectual disability  ,Spinocerebellar ataxia 16 |Features of 3p deletion syndrome|Autism spectrum disorder |Autism	COSMIC,ICGC,
chr12	15452052	15452052	G	A	intergenic	RERG,PTPRO	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,behavior/neurological phenotype	-,Nephrotic syndrome, childhood-onset	ICGC,
chr3	18555249	18555249	T	C	intergenic	SATB1,KCNH8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	mortality/aging,-	-,-	ICGC,
chr1	8249455	8249455	C	G	intergenic	ERRFI1,SLC45A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	integument phenotype,-	-,-	ICGC,
chr15	27851076	27851076	G	A	intergenic	GABRG3,OCA2	unknown	SNV	-	-	-	-	rs745666048	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	Potential protein deficiency,Skin pigmentation, association with|Pigmentary dysplasia, mental retardation, epilepsy & dysmorphic features|Oculocutaneous albinism|Mild to subclinical phenotype|Malignant melanoma, increased risk, association with|Darker eye colour, association with|Blue eye colour, association with|Basal cell carcinoma, association with.|Albinism, oculocutaneous II|Albinism, oculocutaneous|Albinism, ocular	ICGC,
chr13	94078004	94078004	A	G	intronic	GPC6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-	Omodysplasia|Pancreatic cancer 	ICGC,
chr15	87514519	87514519	T	C	intronic	AGBL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332,MALY-DE|1|241|0.00415	-	-	-	Fuchs corneal dystrophy, late-onset 	ICGC,
chr21	22066797	22066797	T	C	intergenic	LOC101927797,LINC00320	unknown	SNV	-	-	-	0.0508	rs147767201	-	0.0720847	-	0.014	-	-	LAML-KR|1|205|0.00488	-	-	-,-	-,-	ICGC,
chr10	107056748	107056748	G	C	intergenic	SORCS3,LOC101927549	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27617542	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	COSMIC,ICGC,
chr10	23531630	23531630	C	T	intergenic	C10orf115,C10orf67	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23499504	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr16	52442194	52442194	T	G	intergenic	LOC102467079,TOX3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Tumour subtype, in BRCA1 mutation carriers, association with.|Breast cancer, association with	ICGC,
chr2	117951461	117951461	T	C	intergenic	DPP10,DDX18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	Autism spectrum disorder,-	ICGC,
chrX	113707781	113707781	C	T	intergenic	LOC101928437,HTR2C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Tourette syndrome, association with|Tardive dyskinesia, association with|Suicide, association with|Reduced promoter activity|Premature ejaculation, association with|Increased promoter activity, association with|Hallucinations, in Alzheimer disease, association|Greater dopamine release|Alcohol use disorder comorbidity, association with|Anxiety, and Appetite disturbances in females, in Alzheimer disease, association with.|Bipolar affective disorder, association with|BMI, association with|Depression, in Alzheimer disease, association with.|Diabetes, association with	ICGC,
chr8	96667121	96667121	C	T	ncRNA_intronic	C8orf37-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr19	28799449	28799449	C	T	intergenic	LOC101927151,LOC100420587	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr19	33048533	33048533	G	-	intergenic	DPY19L3,PDCD5	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	hematopoietic system phenotype,-	-,Chronic myelogenous leukemia, association with	ICGC,
chr9	9871623	9871623	G	A	intronic	PTPRD	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24488398	-	GACA-CN|1|123|0.00813	-	-	integument phenotype	Restless legs syndrome, association with|Ewing sarcoma	COSMIC,ICGC,
chr2	179200461	179200461	C	T	intronic	OSBPL6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr13	66207772	66207772	T	C	intergenic	OR7E156P,PCDH9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr6	9344113	9344118	CTTTAC	-	intergenic	LOC100506207,TFAP2A	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	RECA-EU|1|422|0.00237	-	-	-,integument phenotype	-,Schizophrenia, episodic, association |Orofacial clefting |Developmental delay/intellectual disability and nasolacrimal duct obstruction|Cisplatin resistance|Branchio-oculo-facial syndrome with thyroglossal duct cyst|Branchio-oculo-facial syndrome	ICGC,
chr6	158965667	158965667	G	A	intronic	TMEM181	unknown	SNV	-	-	-	0.0009	rs147807644	-	0.00139776	-	-	COSN4857106	-	MALY-DE|1|241|0.00415	-	-	-	-	COSMIC,ICGC,
chr12	101368820	101368820	G	A	intronic	ANO4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr1	17216867	17216867	A	G	intergenic	MIR3675,CROCC	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24898872	-	LICA-FR|1|252|0.00397	-	-	-,vision/eye phenotype	-,-	COSMIC,ICGC,
chr13	65301290	65301290	A	G	intergenic	OR7E156P,PCDH9	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15610069	-	RECA-EU|1|422|0.00237	-	-	-,-	-,-	COSMIC,ICGC,
chr11	105733375	105733375	A	C	intronic	GRIA4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15188094	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype	-	COSMIC,ICGC,
chr6	91550467	91550467	C	T	intergenic	MAP3K7,MIR4643	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,-	-,-	ICGC,
chr5	99817390	99817390	A	G	intergenic	LOC100133050,FAM174A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr11	41771493	41771493	T	G	ncRNA_intronic	LOC102723644	unknown	SNV	-	-	-	0.1583	rs573406731	-	0.186302	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr8	116974503	116974503	T	C	ncRNA_intronic	LINC00536	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	-	ICGC,
chr12	81398351	81398351	G	-	intergenic	LIN7A,ACSS3	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	mortality/aging,-	Intellectual disability in 12q21 deletion syndrome,-	ICGC,
chr6	39218129	39218129	C	A	intergenic	KCNK5,KCNK17	unknown	SNV	-	-	-	0.0078	rs73731736	-	0.0127796	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	-,-	ICGC,
chrX	18394031	18394031	A	C	intergenic	SCML2,CDKL5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,Infantile spasms|Mental disability, hypotonia, and intractable epilepsy|Mental retardation and epilepsy|Mental retardation, X-linked|Myoclonic encephalopathy|Precocious puberty|Rett syndrome|Rett syndrome, atypical|Rett syndrome, Hanefeld variant|Rett syndrome, variant, with infantile spasms|Rett syndrome, variant, with infantile spasms.|Seizures |Seizures, early-onset|West syndrome|Infantile spasm syndrome, X-linked|Epileptic seizures, early-onset|Epileptic encephalopathy, early-onset|Angelman syndrome|CDKL5 disorder|CDKL5 disorder.|Encephalopathy|Encephalopathy with early epilepsy|Encephalopathy with refractory epilepsy|Encephalopathy, epileptic|Epilepsy and psychomotor retardation|Epileptic encephalopathy, early onset|Epileptic encephalopathy with hypermotor-tonic-spasms|Epileptic encephalopathy  |Epilepsy, early-onset.|Epilepsy, early-onset|Epilepsy with cognitive impairment / autism spectrum disorder	ICGC,
chr1	160852758	160852758	C	T	intronic	ITLN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	normal phenotype	-	ICGC,
chr2	114235104	114235104	C	G	intronic	CBWD2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9072851	-	OV-AU|1|93|0.01075	-	-	-	-	COSMIC,ICGC,
chr1	158434905	158434905	G	T	upstream	OR10K1	unknown	SNV	-	-	-	0.2352	rs1548355	-	0.202875	-	0.217	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr1	233381049	233381049	C	T	intronic	PCNXL2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr3	180482863	180482863	A	C	ncRNA_intronic	LOC101928882	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr5	84648683	84648683	T	G	intergenic	EDIL3,NBPF22P	unknown	SNV	-	-	-	0.0002	rs201333838	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	immune system phenotype,-	Schizophrenia  ,-	ICGC,
chr8	68532278	68532278	G	A	intronic	CPA6	unknown	SNV	-	-	-	3.228e-05	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-	Temporal lobe epilepsy, association with|Temporal lobe epilepsy|Reduced protein expression|Reduced activity|Potential protein deficiency|Febrile seizures|Duane retraction syndrome 1	ICGC,
chr1	94810475	94810475	GG	AA	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr4	169705433	169705433	G	C	intronic	PALLD	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Myocardial infarction, association with |Pancreatic cancer	ICGC,
chr2	126254066	126254066	G	C	intergenic	CNTNAP5,GYPC	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6676758	-	LICA-FR|1|252|0.00397	-	-	-,-	Autism,Glycophorin C variant|Gerbich-negative blood group|Elliptocytosis|Duch blood group	COSMIC,ICGC,
chr11	85419018	85419018	-	CCA	intronic	SYTL2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	digestive/alimentary phenotype	-	ICGC,
chr10	45579325	45579325	C	T	intergenic	ZNF22,RSU1P2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr6	91630644	91630644	G	T	intergenic	MAP3K7,MIR4643	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2183057	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging,-	-,-	COSMIC,ICGC,
chr20	58942601	58942601	G	T	intergenic	MIR646HG,LOC101928048	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	-,-	-,-	ICGC,
chr12	62135739	62135739	G	T	intronic	FAM19A2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24793064	-	GACA-CN|1|123|0.00813	-	-	-	-	COSMIC,ICGC,
chr1	176730716	176730716	C	T	intronic	PAPPA2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	hematopoietic system phenotype	-	ICGC,
chrX	54573050	54573050	A	C	intronic	GNL3L	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-	-	ICGC,
chr6	49566381	49566381	C	T	intergenic	C6orf141,RHAG	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,hematopoietic system phenotype	-,Rh-deficiency syndrome|Rh-mod syndrome|Rh-null syndrome|Stomatocytosis, overhydrated	ICGC,
chr7	57203507	57203507	G	A	intronic	ZNF479	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr1	86299712	86299712	A	G	intronic	COL24A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	EOPC-DE|1|202|0.00495	-	-	-	-	ICGC,
chr9	112868713	112868713	T	C	intronic	AKAP2,PALM2-AKAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	RECA-EU|1|422|0.00237	-	-	-,-	Kallmann syndrome & bone anomalies ,-	ICGC,
chr8	52539689	52539689	G	A	intronic	PXDNL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr3	60136968	60136968	C	T	intronic	FHIT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	integument phenotype	-	ICGC,
chr15	93530401	93530401	G	A	intronic	CHD2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype	Scoliosis |Lennox-Gastaut syndrome |Intellectual disability, nonsyndromic|Epilepsy, developmental delay, autism & facial dysmorphism|Dravet syndrome-like myoclonic epileptic encephalopathy|Developmental delay, intellectual disability & epilepsy|Autism spectrum disorder|Autism	ICGC,
chr6	110694469	110694469	C	T	intergenic	METTL24,DDO	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,reproductive system phenotype	-,-	ICGC,
chr21	21621630	21621630	C	T	intergenic	LOC101927797,LINC00320	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr15	57177670	57177670	T	C	downstream	LOC145783	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr16	50744602	50744602	G	T	exonic	NOD2	nonsynonymous	SNV	0.108	0.802	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	mortality/aging	Monomicrobial bacterascites, in cirrhosis, association with.|Marginal zone lymphoma, association with|Intestinal failure, association with.|Intestinal failure & tuberculous lymphadenitis|Incomplete penetrance|Impaired neutrophil responses, association with|IgE levels, association with|Granulomatous rosacea, association with|Granulomatous pneumonitis|NOD2- associated autoinflammatory disease.|NOD2-associated autoinflammatory disease, with distal lower extremity swelling.|Parkinson disease?|Ulcerative colitis, early=onset|Takayasu arteritis, infantile.|Synovitis, granulomatous, with uveitis|Spontaneous bacterial peritonitis|Sepsis, association with.|Schizophrenia, association with|Sarcoidosis, early onset.|Sarcoidosis, early onset|Periodic fever, dermatitis and inflammatory polyarthritis|Granulomatous arthritis, paediatric|Gastric cancer, association with  |Blau syndrome and interstitial pneumonitis.|Blau syndrome|Blau arteritis|Behcet's disease, protection against, association with|Behcet disease, protection against, association with|Bacterial infection after orthotopic liver transplantation, increased risk, association with|Atopy, association with|Allergic rhinitis, association with|Allergic rhinitis and atopic dermatitis, association with|Blau syndrome.|Coronary artery disease, association with|Coronary atherogenesis, protection against, association with|Early disease manifestation, in colorectal cancer, association|Disease progression in sarcoidosis, association with |Culture-positive spontaneous bacterial peritonitis, in cirrhosis, association with.|Crohn's disease, susceptibility to, association with|Crohn's disease, susceptibility to, association |Crohn's disease, susceptibility to |Crohn's disease, association with.|Crohn's disease |Crohn disease	ICGC,
chr4	11267772	11267772	G	A	intergenic	CLNK,MIR572	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype,-	Immunodeficiency, common variable, association with,-	ICGC,
chr2	57143756	57143756	C	T	intergenic	CCDC85A,VRK2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|4|183|0.02186	-	-	-,-	-,-	ICGC,
chr7	49206838	49206838	C	T	intergenic	CDC14C,VWC2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	168267347	168267347	C	T	intergenic	SPOCK3,ANXA10	unknown	SNV	-	-	-	0.0124	-	-	-	-	-	-	-	PBCA-US|13|186|0.06989	-	-	-,-	-,-	ICGC,
chr12	115037825	115037825	G	A	intergenic	TBX5-AS1,TBX3	unknown	SNV	-	-	-	3.229e-05	-	-	-	-	-	COSN8960297	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	-,Ulnar-mammary syndrome	COSMIC,ICGC,
chr17	15055734	15055734	C	T	intergenic	CDRT8,PMP22	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Roussy-Levy syndrome|Neuropathy, liability to pressure palsies|Hereditary motor & sensory neuropathy|Dejerine-Sottas syndrome.|Dejerine-Sottas syndrome with gastroesophageal reflux syndrome|Dejerine-Sottas syndrome|Charcot-Marie-Tooth type 1 with transient deficits|Charcot-Marie-Tooth disease with slow nerve conduction velocity|Charcot-Marie-Tooth disease with deafness|Charcot-Marie-Tooth disease 1e.|Charcot-Marie-Tooth disease 1E with Dandy-Walker malformation|Charcot-Marie-Tooth disease 1e|Charcot-Marie-Tooth disease 1a|Charcot-Marie-Tooth disease 1|Charcot-Marie-Tooth disease|Axonal neuropathy	ICGC,
chr13	87640422	87640422	G	C	intergenic	SLITRK6,MIR4500HG	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	behavior/neurological phenotype,-	High myopia and sensorineural deafness,-	ICGC,
chr6	132507165	132507165	G	A	intergenic	LINC01013,MOXD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr6	47798737	47798737	A	C	intergenic	OPN5,PTCHD4	unknown	SNV	-	-	-	0.0002	rs551187518	-	0.000599042	-	-	COSN9785021	-	OV-AU|1|93|0.01075	-	-	-,-	-,-	COSMIC,ICGC,
chr7	129303944	129303944	A	C	intronic	NRF1	unknown	SNV	-	-	-	0.1819	rs7459234	-	0.269169	-	0.225	-	-	LAML-KR|1|205|0.00488	-	-	mortality/aging	-	ICGC,
chr19	24309681	24309681	T	-	exonic	ZNF254	frameshift	deletion	-	-	-	-	-	-	-	-	-	-	LIHC|1|373|0.00268	-	-	-	-	-	TCGA,
chr18	62046292	62046292	C	T	ncRNA_intronic	LOC284294	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr5	105051764	105051764	A	G	intergenic	RAB9BP1,LOC102467213	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr1	168292240	168292240	T	G	intergenic	TBX19,MIR557	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype,-	ACTH deficiency, isolated,-	ICGC,
chrX	33536508	33536508	T	C	intergenic	DMD,FAM47A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2354915	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging,-	Muscular dystrophy, Duchenne & Charcot-Marie-Tooth disease|Muscular dystrophy, Duchenne & autism|Muscular dystrophy, Duchenne|Muscular dystrophy, Becker.|Muscular dystrophy, Becker with cognitive impairment|Muscular dystrophy, Becker|Muscular dystrophy, Duchenne-like|Muscular dystrophy, Duchenne, epilepsy, macroglossia and mental retardation|Muscular dystrophy, Duchenne.|Muscular dystrophy, Duchenne/Becker|Muscular dystrophy, intermediate|Myopathy  |Potential protein deficiency|Schizophrenia|Muscular dystrophy, atypical|Muscular dystrophy & intellectual disability|Muscular dystrophy|Autism & neuromotor delay|Autism spectrum disorder|Behavioural issues|Cardiomyopathy, dilated|Cardiomyopathy, dilated, X-linked|Cardiomyopathy, dilated.|Dystrophinopathy|Elevated creatine kinase level|Mild Becker muscular dystrophy|Mental retardation, X-linked|Isolated cardiomyopathy|Increased serum creatine kinase levels|Global developmental delay/intellectual disability|Exertional myalgia, muscle stiffness & myoglobinuria,-	COSMIC,ICGC,
chr2	126000627	126000627	A	C	intergenic	CNTNAP5,GYPC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Autism,Glycophorin C variant|Gerbich-negative blood group|Elliptocytosis|Duch blood group	ICGC,
chr3	38020409	38020409	G	T	intronic	CTDSPL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-	-	ICGC,
chr2	78276000	78276000	G	A	ncRNA_intronic	LOC101927967	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN28136009	-	PRAD-CA|1|308|0.00325	-	-	-	-	COSMIC,ICGC,
chr19	39955656	39955656	C	G	exonic	SUPT5H	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM1481038	BRCA|1|982|0.00102	BRCA-US|1|955|0.00105	-	-	-	Congenital heart disease 	COSMIC,TCGA,ICGC,
chr9	78026192	78026192	G	A	intergenic	OSTF1,MIR548H3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|2|100|0.02000,MELA-AU|2|183|0.01093	-	-	-,-	-,-	ICGC,
chr6	98767515	98767515	C	T	intergenic	MIR2113,POU3F2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,-	ICGC,
chr11	119952721	119952721	T	A	intergenic	LOC102724301,TRIM29	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6607347	-	-	-	-	-,-	-,-	COSMIC,
chr6	10541408	10541408	G	A	intronic	GCNT2	unknown	SNV	-	-	-	3.233e-05	rs567436568	-	0.000798722	-	-	-	-	PBCA-US|1|186|0.00538	-	-	integument phenotype	Paediatric cataract |I blood group variation|Congenital cataract|Autism, non-complex	ICGC,
chr4	175702409	175702409	G	T	intronic	GLRA3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20439640	-	COCA-CN|1|321|0.00312	-	-	integument phenotype	-	COSMIC,ICGC,
chr15	41349677	41349677	A	T	intronic	INO80	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20636503	-	BRCA-EU|1|569|0.00176	-	-	-	Schizophrenia	COSMIC,ICGC,
chr12	85818502	85818502	C	A	intergenic	ALX1,RASSF9	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN14823644	-	PAEN-AU|1|52|0.01923	-	-	mortality/aging,integument phenotype	Microphthalmia with facial clefting|Mental retardation, language delay & microcephaly |Autism spectrum disorder,-	COSMIC,ICGC,
chr10	69105449	69105449	C	T	intronic	CTNNA3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Tourette syndrome |Sinus venosus atrial septal defect|Neural tube defects|Cervical artery dissection|Autism spectrum disorder |Attention deficit hyperactivity disorder |Arrhythmogenic right ventricular cardiomyopathy|Alzheimer disease, increased risk, association with |Adenocarcinoma	ICGC,
chr13	106654890	106654890	T	A	intergenic	LINC00343,LINC00460	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	12954516	12954516	T	C	intergenic	LINC01194,DNAH5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,Asthenozoospermia |Autism |Chronic rhinosinusitis and primary ciliary dyskinesia|Potential protein deficiency|Primary ciliary dyskinesia	ICGC,
chr10	82244322	82244322	T	C	intronic	TSPAN14	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr4	163691219	163691219	T	A	intergenic	FSTL5,NAF1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1290708	-	LINC-JP|1|394|0.00254	-	-	-,-	Schizophrenia  |Rolandic epilepsy ,-	COSMIC,ICGC,
chrX	44212591	44212591	G	A	intergenic	EFHC2,FUNDC1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	Mental retardation, X-linked,-	ICGC,
chrX	130775762	130775762	C	A	intergenic	OR13H1,FIRRE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-,-	Autism spectrum disorder,-	ICGC,
chr10	9538837	9538837	G	A	intergenic	LOC101928272,LOC101928298	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr6	22532787	22532787	T	A	intergenic	PRL,HDGFL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Rheumatoid arthritis susceptibility, association with|Schizophrenia, association with|Systemic lupus erythematosus, association with,-	ICGC,
chr5	5463684	5463684	G	A	exonic	ICE1	nonsynonymous	SNV	0.006	0.998	-	-	-	-	-	-	-	COSM6282228	-	LICA-CN|1|402|0.00249	-	-	-	-	COSMIC,ICGC,
chrX	71481177	71481177	G	T	intronic	PIN4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	-	ICGC,
chr21	23963071	23963071	G	A	intergenic	LINC00308,D21S2088E	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr10	53485370	53485370	G	A	intronic	PRKG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	OV-AU|1|93|0.01075	-	-	mortality/aging	Thoracic aortic aneurysms and dissections	ICGC,
chr9	12126374	12126374	T	G	intergenic	PTPRD-AS2,TYRP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	-,Albinism, oculocutaneous  |Albinism, oculocutaneous 3|Melanesian blond hair	ICGC,
chr6	163653320	163653320	G	A	intronic	PACRG	unknown	SNV	-	-	-	-	rs570658132	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	Infertility, male, association with |Leprosy, association with|Parkinson disease, early-onset 	ICGC,
chr9	69649254	69649254	G	A	intergenic	ANKRD20A4,LOC100133920	unknown	SNV	-	-	-	4.196e-05	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	ICGC,
chr8	83510404	83510404	G	A	intergenic	SNX16,LINC01419	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr8	122370985	122370985	A	T	intergenic	SNTB1,HAS2	unknown	SNV	-	-	-	3.23e-05	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,mortality/aging	-,Ventricular septal defect	ICGC,
chr7	90266835	90266835	C	T	intronic	CDK14	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	Potential protein deficiency	ICGC,
chr8	96217678	96217678	A	-	intergenic	PLEKHF2,C8orf69	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr4	102943217	102943217	A	T	intronic	BANK1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	hematopoietic system phenotype	Systemic sclerosis, susceptibility to, association with|Systemic lupus erythematosus, protection against, association|Rheumatoid arthritis|Psoriasis, early disease onset, association with.|Diffuse systemic sclerosis, susceptibility to, association with	ICGC,
chrX	33333599	33333599	T	A	intronic	DMD	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	RECA-EU|1|422|0.00237	-	-	mortality/aging	Muscular dystrophy, Duchenne & Charcot-Marie-Tooth disease|Muscular dystrophy, Duchenne & autism|Muscular dystrophy, Duchenne|Muscular dystrophy, Becker.|Muscular dystrophy, Becker with cognitive impairment|Muscular dystrophy, Becker|Muscular dystrophy, Duchenne-like|Muscular dystrophy, Duchenne, epilepsy, macroglossia and mental retardation|Muscular dystrophy, Duchenne.|Muscular dystrophy, Duchenne/Becker|Muscular dystrophy, intermediate|Myopathy  |Potential protein deficiency|Schizophrenia|Muscular dystrophy, atypical|Muscular dystrophy & intellectual disability|Muscular dystrophy|Autism & neuromotor delay|Autism spectrum disorder|Behavioural issues|Cardiomyopathy, dilated|Cardiomyopathy, dilated, X-linked|Cardiomyopathy, dilated.|Dystrophinopathy|Elevated creatine kinase level|Mild Becker muscular dystrophy|Mental retardation, X-linked|Isolated cardiomyopathy|Increased serum creatine kinase levels|Global developmental delay/intellectual disability|Exertional myalgia, muscle stiffness & myoglobinuria	ICGC,
chr17	7734999	7734999	A	C	exonic	DNAH2	nonsynonymous	SNV	0.112	0.39	-	-	-	-	-	-	-	COSM5553417	-	-	-	-	-	-	COSMIC,
chr4	4864663	4864663	G	A	exonic	MSX1	synonymous	SNV	-	-	-	-	-	-	-	-	-	-	SKCM|1|368|0.00272	-	-	-	integument phenotype	Tooth agenesis|Tooth agenesis and orofacial clefting|Tooth agenesis with cleft lip|Upper lateral incisor agenesis, association with|Witkop syndrome|Witkop syndrome.|Oligodontia in Wolf-Hirschhorn syndrome|Oligodontia|Hypodontia|Breast cancer, association with|Cleft lip and palate|Cleft lip and palate with tooth agenesis, association with|Cleft lip with or without cleft palate, association |Cleft lip with or without cleft palate, nonsyndromic|Cleft lip, incomplete 	TCGA,
chr14	107094903	107094903	T	C	intergenic	LINC00221,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1639023	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr12	65467509	65467509	G	A	intronic	WIF1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	-	ICGC,
chr2	178787722	178787722	A	G	intronic	PDE11A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	Testicular germ cell tumour, association with|Prostate cancer, susceptibility to |Altered enzyme activity|Adrenocortical tumours|Adrenocortical hyperplasia|Adrenocortical adenoma.|Adrenocortical adenoma|ACTH-independent macronodular adrenocortical hyperplasia|ACTH-independent macronodular adrenal hyperplasia	ICGC,
chr2	126036556	126036556	G	C	intergenic	CNTNAP5,GYPC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	Autism,Glycophorin C variant|Gerbich-negative blood group|Elliptocytosis|Duch blood group	ICGC,
chr6	92640246	92640246	T	G	intergenic	CASC6,EPHA7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,nervous system phenotype	-,Development delay and dysmorphic features|Leukemia, risk, association with 	ICGC,
chr8	94059023	94059023	C	A	intergenic	MIR8084,C8orf87	unknown	SNV	-	-	-	0.2943	rs444171	-	0.381789	-	0.413	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr8	89859923	89859923	T	C	intergenic	MMP16,RIPK2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	mortality/aging,hematopoietic system phenotype	-,Autism spectrum disorder	ICGC,
chr6	89707439	89707439	G	A	intergenic	RNGTT,PNRC1	unknown	SNV	-	-	-	0.0001	-	-	-	-	-	COSN27714376	-	NKTL-SG|1|50|0.02000	-	-	-,-	-,-	COSMIC,ICGC,
chr18	55778541	55778541	C	T	intronic	NEDD4L	unknown	SNV	-	-	-	-	rs552080367	-	0.000399361	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging	Reduced blood pressure under therapy, association with|Protective against orthostatic hypotension|Impaired ENaC regulation|Essential hypertension, association with|Epilepsy, photosensitive generalised|Diastolic blood pressure, association with	ICGC,
chr2	160274103	160274103	G	T	intronic	BAZ2B	unknown	SNV	-	-	-	0.1870	rs68057871	-	0.197684	-	0.188	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr7	56833429	56833429	A	-	intergenic	LOC101928401,LOC100130849	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr18	40695754	40695754	C	T	upstream	RIT2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9334396	-	OV-AU|1|93|0.01075	-	-	-	-	COSMIC,ICGC,
chr10	89120512	89120512	G	A	ncRNA_exonic	NUTM2D	unknown	SNV	-	-	5.008e-05	-	-	-	-	-	-	COSM6731801	-	-	-	-	-	-	COSMIC,COSMIC,
chr20	20146876	20146876	G	A	intronic	C20orf26	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-	-	ICGC,
chr1	189723883	189723883	G	A	intergenic	NONE,BRINP3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr4	112575874	112575875	AT	-	intergenic	PITX2,C4orf32	unknown	deletion	-	-	-	-	-	-	-	-	-	COSN1980234	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging,-	Ring dermoid of the cornea|Rieger syndrome|Peter anomaly|Omphalocele, association with |Omphalocele|Iris hypoplasia|Iridogoniodysgenesis syndrome|Craniofacial/acallosal CNS midline defects|Axenfeld-Rieger syndrome|Anterior segment dysgenesis,-	COSMIC,ICGC,
chr11	42543043	42543043	G	T	intergenic	LOC100507205,HNRNPKP3	unknown	SNV	-	-	-	-	rs531267732	-	0.000199681	-	0.007	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr5	53334555	53334555	-	AT	intronic	ARL15	unknown	insertion	-	-	-	0.0229	rs570289355	-	0.0303514	-	-	COSN27211715	-	ESAD-UK|1|301|0.00332,PBCA-DE|1|499|0.00200	-	-	-	-	COSMIC,ICGC,
chr7	148191631	148191631	C	T	intergenic	CNTNAP2,C7orf33	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LAML-KR|1|205|0.00488	-	-	integument phenotype,-	Gilles de la Tourette syndrome|Intellectual disability  |Learning disability & speech problems|Mental retardation |Mental retardation, Pitt-Hopkins-like|Multiple congenital anomalies  |Seizures, neonatal |Speech delay  |Stuttering |Epileptic encephalopathy  |Epilepsy and schizophrenia|Autism|Autism spectrum disorder |Autism spectrum disorder, modifier of|Childhood apraxia of speech|Cortical dysplasia-focal epilepsy syndrome|Developmental and/or speech and/or behavioural problems|Developmental delay  |Developmental delay & dysmorphic features|Dyslexia ,-	ICGC,
chr7	41602176	41602176	-	TTCTTCTTCTTCT	intergenic	LINC01449,INHBA	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|3|71|0.04225	-	-	-,integument phenotype	-,Ovarian epithelial tumours, early onset	ICGC,
chr8	67551556	67551556	-	T	intronic	VCPIP1	unknown	insertion	-	-	-	0.8121	rs57563619	-	-	-	-	COSN27523190	-	-	-	-	-	-	COSMIC,
chr13	105244338	105244338	G	A	intergenic	MIR548AS,DAOA-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	181245230	181245230	C	T	intergenic	NONE,LINC00290	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	-,-	-,-	ICGC,
chr21	15950265	15950265	A	G	intronic	SAMSN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PEME-CA|1|112|0.00893	-	-	hematopoietic system phenotype	-	ICGC,
chr11	106872387	106872389	ACA	-	intronic	GUCY1A2	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	hematopoietic system phenotype	-	ICGC,
chr3	194200625	194200625	A	G	intergenic	ATP13A3,LINC00884	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8365455	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	COSMIC,ICGC,
chr6	29912405	29912405	G	A	intronic	HLA-A	unknown	SNV	0.672	0.296	0.0577	0.1487	rs9260192	0.0696	0.115016	0.0724	0.058	COSM4160537	-	-	-	-	-	HLA-A low expression allele|HLA-A null allele|HLA-A variant|Rheumatoid arthritis, seropositive, reduced risk	COSMIC,
chr9	140771332	140771332	G	A	ncRNA_intronic	LOC100133077	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr2	123620932	123620932	G	A	intergenic	TSN,CNTNAP5	unknown	SNV	-	-	-	3.23e-05	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	hematopoietic system phenotype,-	-,Autism	ICGC,
chr12	109182933	109182933	G	A	exonic	SSH1	nonsynonymous	SNV	0.073	0.022	-	-	-	-	-	-	-	-	ACC|1|90|0.01111	-	-	-	-	Porokeratosis, disseminated superficial actinic, 1	TCGA,
chr4	29968008	29968008	G	A	intergenic	MIR4275,PCDH7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIAD-FR|1|32|0.03125	-	-	-,-	-,-	ICGC,
chr19	9452636	9452636	A	C	exonic	ZNF559	nonsynonymous	SNV	0.92	0.807	-	-	-	-	-	-	-	COSM1004254	UCEC|1|248|0.00403	UCEC-US|1|250|0.00400	-	-	-	-	COSMIC,TCGA,ICGC,
chr19	58551492	58551492	G	A	intronic	ZSCAN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr6	1362476	1362476	G	A	intergenic	FOXQ1,FOXF2	unknown	SNV	-	-	-	-	rs768160469	-	-	-	-	-	-	LAML-KR|1|205|0.00488	-	-	integument phenotype,mortality/aging	-,Disorders of sex development with cleft palate 	ICGC,
chr21	23945541	23945541	G	A	intergenic	LINC00308,D21S2088E	unknown	SNV	-	-	-	3.244e-05	-	-	-	-	-	COSN10023702	-	RECA-EU|1|422|0.00237,LUSC-KR|1|170|0.00588	-	-	-,-	-,-	COSMIC,ICGC,
chr7	65832671	65832671	A	G	intergenic	TPST1,LINC00174	unknown	SNV	-	-	-	0.0389	rs370733836	-	0.000399361	-	-	-	-	BRCA-UK|1|141|0.00709	-	-	reproductive system phenotype,-	-,-	ICGC,
chr18	4426360	4426360	A	G	intronic	DLGAP1	unknown	SNV	-	-	-	0.4612	rs169455	-	0.472045	-	0.384	-	-	ESAD-UK|1|301|0.00332	-	-	-	Schizophrenia  	ICGC,
chrY	13715300	13715300	A	G	intergenic	NONE,GYG2P1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	-,-	-,-	ICGC,
chr7	115274434	115274434	-	AATA	intergenic	LINC01393,TFEC	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,integument phenotype	-,-	ICGC,
chr9	91991911	91991911	G	A	exonic	SEMA4D	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM6013525	-	-	-	-	hematopoietic system phenotype	Acetabular dysplasia	COSMIC,
chr7	92131237	92131237	G	A	exonic	PEX1	stopgain	SNV	-	-	1.626e-05	6.46e-05	rs61750418	8.239e-06	-	-	-	-	LUAD|1|543|0.00184	-	Zellweger_syndrome	-	-	Zellweger syndrome|Schizophrenia|Refsum disease, infantile|Peroxisome biogenesis disorder|Neonatal adrenoleukodystrophy|Altered gene expression	ClinVar,TCGA,
chr14	39671439	39671439	C	T	intergenic	PNN,MIA2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,mortality/aging	-,-	ICGC,
chr11	132961746	132961746	T	A	intronic	OPCML	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	no phenotypic analysis	Autism spectrum disorder  	ICGC,
chr1	42233618	42233618	A	G	intronic	HIVEP3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	hematopoietic system phenotype	Schizophrenia	ICGC,
chr2	77319678	77319678	C	T	intronic	LRRTM4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr2	123666394	123666399	CTGTGT	-	intergenic	TSN,CNTNAP5	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	hematopoietic system phenotype,-	-,Autism	ICGC,
chr1	228145671	228145671	C	T	intergenic	WNT9A,WNT3A	unknown	SNV	-	-	-	0.0770	rs78815268	-	0.0742812	-	0.036	COSN6446018	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,mortality/aging	-,Osteoporosis	COSMIC,ICGC,
chr22	39212902	39212902	C	T	intergenic	DNAL4,NPTXR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,nervous system phenotype	-,-	ICGC,
chr9	139391564	139391564	G	A	exonic	NOTCH1	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM4436248	-	-	-	-	integument phenotype	Tetralogy of Fallot |Hypoplastic left heart syndrome|Calcified aortic valve with ascending aortic aneurysm|Bicuspid aortic valve |Aortic valve stenosis, tricuspid, calcific.|Aortic valve stenosis, tricuspid, calcific|Aortic valve disease|Aortic coarctation	COSMIC,COSMIC,
chr11	5949555	5949555	C	T	intergenic	OR52E4,OR56A3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr8	52405375	52405375	G	A	intronic	PXDNL	unknown	SNV	-	-	-	0.0005	rs557470410	-	0.000798722	-	0.007	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr14	29220170	29220179	AAACAAAACA	-	intergenic	LINC00645,FOXG1	unknown	deletion	-	-	-	6.46e-05	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,integument phenotype	-,West syndrome |Rett-like syndrome|Rett syndrome|Refractory epilepsy & intellectual impairment|Microcephaly, mental retardation & thin genu of corpus callosum|Mental retardation, speech impairment & epilepsy|Mental retardation & speech impairment|Mental retardation & postnatal microcephaly|Mental retardation & callosum abnormalities|Mental retardation|Infantile spasms|Hemifacial microsomia|Generalized dystonia, athetosis and parkinsonism|Developmental delay, microcephaly & hypoplasia of the corpus callosum|Developmental delay, hypotonia, microcephaly & infantile spasms|Developmental delay & slow head growth|Agenesis of corpus callosum	ICGC,
chr5	2261483	2261483	G	A	intergenic	MIR548BA,LOC100506858	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr12	130033304	130033304	G	A	intronic	TMEM132D	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Panic disorder  	ICGC,
chr4	34257192	34257192	-	T	intergenic	NONE,ARAP2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr7	54498791	54498791	C	T	intergenic	LINC01445,VSTM2A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	12415977	12415977	C	A	exonic	VPS13D	nonsynonymous	SNV	-	0.099	8.434e-06	-	rs267597963	8.462e-06	-	-	-	COSM6422727	-	THCA-CN|1|50|0.02000	-	-	mortality/aging	-	COSMIC,ICGC,
chr2	156266069	156266069	C	T	intergenic	KCNJ3,AC093375.1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	cardiovascular system phenotype,-	Schizophrenia, association with  ,-	ICGC,
chr3	161438956	161438956	G	A	intergenic	OTOL1,LINC01192	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr17	35825625	35825625	A	C	exonic	TADA2A	nonsynonymous	SNV	-	0.488	-	-	-	-	-	-	-	COSM978307	UCEC|1|248|0.00403	UCEC-US|1|250|0.00400	-	-	-	-	COSMIC,COSMIC,TCGA,ICGC,
chr12	66032131	66032131	C	T	ncRNA_intronic	LOC100507065	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr13	85316907	85316907	T	-	intergenic	LINC00333,LINC00351	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr14	84769535	84769535	C	T	intergenic	NONE,LINC00911	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	702972	702972	G	A	intergenic	TMEM18,LINC01115	unknown	SNV	-	-	-	3.229e-05	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	Obesity  ,-	ICGC,
chr15	91062965	91062965	G	A	intergenic	IQGAP1,CRTC3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,cellular phenotype	Breast cancer, association with ,-	ICGC,
chr3	6765408	6765408	A	G	ncRNA_intronic	LOC101927347	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7705084	-	PACA-AU|1|391|0.00256	-	-	-	-	COSMIC,ICGC,
chr3	28921616	28921616	G	A	intergenic	LINC00693,RBMS3-AS3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr2	193536047	193536047	C	T	intergenic	TMEFF2,PCGEM1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,-	-,-	ICGC,
chr14	103632109	103632109	C	T	intergenic	TNFAIP2,LINC00605	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	Squamous cell carcinoma of the head and neck, increased risk|Gastric cancer, increased risk,-	ICGC,
chr7	49932195	49932195	A	G	intronic	VWC2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2226565	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr4	49492723	49492723	G	A	intergenic	CWH43,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr20	1495514	1495514	C	T	intergenic	SIRPB2,SIRPD	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr10	84464057	84464057	C	T	intronic	NRG3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Schizophrenia, association with |Increased ventrolateral PFC activation|Hirschsprung disease  	ICGC,
chr10	92290616	92290616	C	T	ncRNA_intronic	LOC101926942	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr11	99101673	99101673	G	A	intronic	CNTN5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25426317	-	MALY-DE|1|241|0.00415	-	-	behavior/neurological phenotype	-	COSMIC,ICGC,
chr8	132481409	132481409	G	A	intergenic	ADCY8,EFR3A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Myocardial infarction  ,Autism|Potential protein deficiency	ICGC,
chr5	30528971	30528971	G	A	intergenic	LOC101929681,CDH6	unknown	SNV	-	-	-	-	rs577091149	-	0.000199681	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,renal/urinary system phenotype	-,-	ICGC,
chr4	179233527	179233527	A	T	intergenic	LINC01098,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr7	130887288	130887288	C	T	intronic	MKLN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	integument phenotype	-	ICGC,
chr5	125372914	125372914	A	C	intergenic	LOC101927460,LOC102546228	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7862450	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	COSMIC,ICGC,
chr8	130989694	130989694	A	G	intergenic	FAM49B,MIR5194	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr17	46135787	46135787	-	G	exonic	NFE2L1	frameshift	insertion	-	-	-	-	-	-	-	-	-	-	LUAD|5|543|0.00921	-	-	-	integument phenotype	-	TCGA,
chr3	76260533	76260533	G	A	intergenic	ZNF717,ROBO2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	Potential protein deficiency,Autism spectrum disorder  |Urinary tract anomalies|Vesicoureteral reflux	ICGC,
chr18	51463711	51463711	G	A	intergenic	LOC102724651,MBD2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,-	ICGC,
chr3	4281937	4281937	G	A	intergenic	LRRN1,SETMAR	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15779112	-	LIRI-JP|1|258|0.00388	-	-	behavior/neurological phenotype,-	-,-	COSMIC,ICGC,
chr11	80562835	80562835	C	T	intergenic	LOC101928944,LOC101928989	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr1	80281356	80281356	A	T	intergenic	ELTD1,LPHN2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	normal phenotype,mortality/aging	-,Schizophrenia	ICGC,
chr20	47770573	47770573	A	G	exonic	STAU1	nonsynonymous	SNV	0.003	0.997	-	-	-	-	-	-	-	COSM3693557	-	COAD-US|1|254|0.00394	-	-	behavior/neurological phenotype	-	COSMIC,COSMIC,ICGC,
chr6	40163063	40163063	C	T	intergenic	MOCS1,LINC00951	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Molybdenum cofactor deficiency,Esophageal squamous cell carcinoma, reduced risk	ICGC,
chr16	78920952	78920952	C	T	intronic	WWOX	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging	Reduced plasma HDL cholesterol, association with|Non-small-cell lung cancer |Microcephaly syndrome, early lethal|Lung cancer, increased risk, association with|Differentiated thyroid carcinoma, association with|Cerebellar ataxia with epilepsy & mental retardation|Cancer |46,XY disorder of sex development 	ICGC,
chr1	69416483	69416483	T	G	intergenic	DEPDC1-AS1,LRRC7	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15234855	-	ESAD-UK|3|301|0.00997	-	-	-,mortality/aging	-,-	COSMIC,ICGC,
chr18	69188097	69188097	T	G	ncRNA_exonic	LOC100505776	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-	-	ICGC,
chr10	67094014	67094014	T	C	intergenic	ANXA2P3,LOC101928913	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr1	97158494	97158494	A	G	intergenic	LOC101928241,PTBP2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21772811	-	BRCA-UK|1|141|0.00709,BRCA-EU|1|569|0.00176	-	-	-,mortality/aging	-,-	COSMIC,ICGC,
chr7	75730949	75730949	C	G	intergenic	MDH2,SRRM3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21819493	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr16	10110012	10110012	C	T	intronic	GRIN2A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Intellectual disability  |Landau-Kleffner syndrome|Landau-Kleffner syndrome, atypical rolandic epilepsy, dysphasia, CSWS syndrome|Landau-Kleffner syndrome, verbal dyspraxia|Landau-Kleffner syndrome/benign epilepsy with centrotemporal spikes/atypical benign partial epilepsy|Mental retardation with abnormal EEG|Partial epilepsy, atypical benign|Rolandic epilepsy |Schizophrenia|Schizophrenia, chronic outcome, association with|Seizure disorders of rolandic region & intellectual disability|Increased hippocampal and amygdala volumes, association with|Epileptic encephalopathy, verbal dyspraxia|Epileptic encephalopathy, benign childhood epilepsy|Alcohol dependence, association with|Atypical rolandic epilepsy, absence epilepsy|Atypical rolandic epilepsy, verbal dyspraxia|Benign epilepsy with centrotemporal spikes|Epilepsy with cognitive impairment|Epilepsy-aphasia syndrome|Epilepsy, childhood-onset|Epileptic encephalopathy|Epileptic encephalopathy, abnormal EEG & developmental delay|Epileptic encephalopathy, atypical rolandic epilepsy, dysphasia|Epileptic encephalopathy, atypical rolandic epilepsy, verbal dyspraxia	ICGC,
chr6	83127795	83127795	G	A	intergenic	TPBG,UBE3D	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6592524	-	PBCA-DE|1|499|0.00200	-	-	mortality/aging,-	-,-	COSMIC,ICGC,
chr12	11285922	11285922	G	A	exonic	TAS2R30	nonsynonymous	SNV	0.177	0.834	4.068e-06	-	rs761429313	8.33e-06	-	-	-	COSM1358903	COAD|1|367|0.00272,COADREAD|1|489|0.00204	COAD-US|1|254|0.00394	-	-	-	-	COSMIC,TCGA,ICGC,
chr3	83975515	83975515	G	A	intergenic	NONE,LINC00971	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	132994081	132994086	CACACG	-	intergenic	NONE,PCDH10	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,mortality/aging	-,Schizophrenia|Potential protein deficiency	ICGC,
chr5	12884772	12884772	G	A	intergenic	LINC01194,DNAH5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Asthenozoospermia |Autism |Chronic rhinosinusitis and primary ciliary dyskinesia|Potential protein deficiency|Primary ciliary dyskinesia	ICGC,
chr1	99335738	99335738	T	A	intergenic	SNX7,LPPR5	unknown	SNV	-	-	-	0.0986	rs10875190	-	0.160743	-	0.101	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr8	139234634	139234634	C	T	intronic	FAM135B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr13	66592235	66592235	A	T	intergenic	NONE,PCDH9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	162999984	162999984	C	T	ncRNA_intronic	LINC01192	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr8	91358755	91358755	G	A	ncRNA_intronic	LINC00534	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr5	31169420	31169420	A	T	intergenic	LOC101929681,CDH6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,renal/urinary system phenotype	-,-	ICGC,
chr7	40779504	40779504	C	-	intronic	SUGCT	unknown	deletion	-	-	-	-	-	-	-	-	-	COSN22834980	-	BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr7	114544948	114544948	T	G	intergenic	FOXP2,MDFIC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	Verbal dyspraxia, dysmorphism and developmental delay|Verbal apraxia & dysarthria|Verbal apraxia|Speech impairment, developmental delay & congenital anomalies|Speech disorder, global development & psychomotor delay|Mental retardation, dysmorphia and language delay|Left opercular polymicrogyria|Dyspraxia and language delay|Developmental verbal dyspraxia|Childhood apraxia of speech|Autism spectrum disorder ,-	ICGC,
chr1	164883911	164883911	C	T	intergenic	PBX1,LMX1A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	integument phenotype,integument phenotype	Schizophrenia,-	ICGC,
chr21	9923960	9923960	C	G	ncRNA_intronic	TEKT4P2	unknown	SNV	-	-	-	-	rs796820451	-	-	-	-	COSN19720104	-	COCA-CN|2|321|0.00623	-	-	-	-	COSMIC,ICGC,
chr9	21589483	21589483	G	A	intergenic	MIR31HG,MTAP	unknown	SNV	-	-	-	3.232e-05	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-,mortality/aging	-,Sensorineural hearing loss	ICGC,
chr2	201923886	201923886	C	T	intronic	FAM126B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr18	38853897	38853897	G	A	intergenic	LOC101927900,KC6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr22	43104085	43104085	C	T	intronic	A4GALT	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6693103	-	LICA-FR|1|252|0.00397	-	-	mortality/aging	Pk synthase deficiency (p phenotype)|NOR polyagglutination|Histo-blood group variant (P1/P2)	COSMIC,ICGC,
chr3	68509465	68509465	T	G	intronic	FAM19A1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN14913658	-	ESAD-UK|1|301|0.00332	-	-	-	-	COSMIC,ICGC,
chr2	57158061	57158061	G	T	intergenic	CCDC85A,VRK2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22103089	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr1	152058806	152058806	C	T	exonic	TCHHL1	nonsynonymous	SNV	1.0	0.331	-	-	rs147543963	-	-	-	-	COSM108164	-	-	-	-	-	-	COSMIC,
chr4	35293728	35293728	C	G	intergenic	NONE,ARAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15575812	-	RECA-EU|1|422|0.00237	-	-	-,-	-,-	COSMIC,ICGC,
chr16	1675986	1675986	G	T	exonic	CRAMP1L	nonsynonymous	SNV	0.003	0.047	0.0044	0.0012	rs150953427	0.0087	0.00439297	0.0022	-	COSM3667805	-	LIAD-FR|1|32|0.03125	-	-	craniofacial phenotype	-	COSMIC,ICGC,
chr3	163900783	163900783	A	G	intergenic	LINC01192,SI	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,Sucrase isomaltase deficiency	ICGC,
chr15	88211321	88211321	C	T	intergenic	LINC00052,NTRK3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-AU|1|391|0.00256	-	-	-,mortality/aging	-,Panic disorder, association with|Obsessive-compulsive disorder, association with|Autism spectrum disorder	ICGC,
chr6	85792383	85792383	T	A	intergenic	TBX18,NT5E	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2181145	-	LIRI-JP|1|258|0.00388	-	-	integument phenotype,hematopoietic system phenotype	Autism,Arterial & joint calcifications, symptomatic	COSMIC,COSMIC,ICGC,
chr6	66126308	66126308	C	T	intronic	EYS	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	Cone-rod dystrophy, autosomal recessive.|Leber congenital amaurosis|Retinitis pigmentosa|Retinitis pigmentosa, autosomal recessive |Retinitis pigmentosa, autosomal recessive/Leber congenital amaurosis	ICGC,
chr22	31440225	31440225	T	G	intergenic	TUG1,SMTN	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8016557	-	PACA-AU|1|391|0.00256	-	-	-,integument phenotype	-,-	COSMIC,ICGC,
chr7	99504286	99504286	G	T	intronic	TRIM4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chrX	91906986	91906986	A	G	intergenic	PCDH11X,NAP1L3	unknown	SNV	-	-	-	-	rs12860709	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	Absent speech, intellectual disability & behavioural problems|Attention deficit hyperactivity disorder & obsessive compulsive disorder|Developmental dyslexia |Language delay, nonsyndromic ,-	ICGC,
chr2	218824766	218824766	G	A	intergenic	TNS1,CXCR2P1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	reproductive system phenotype,-	-,-	ICGC,
chr4	21426689	21426689	G	A	intronic	KCNIP4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Renal cell carcinoma 	ICGC,
chr16	27882981	27882981	G	A	intronic	GSG1L	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr2	107271597	107271597	T	C	intergenic	RGPD3,ST6GAL2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN4794126	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	COSMIC,ICGC,
chr9	82430185	82430185	C	T	intergenic	TLE4,LOC101927477	unknown	SNV	-	-	-	0.0002	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr9	69232114	69232114	G	A	intronic	CBWD6	unknown	SNV	-	-	-	0.0872	rs116024134	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr3	117681531	117681531	T	C	intergenic	LINC00901,IGSF11	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr13	103682023	103682023	G	A	intergenic	METTL21EP,SLC10A2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,digestive/alimentary phenotype	-,Bile acid malabsorption, primary|Colorectal adenoma, increased risk, association with|Hypertriglyceridaemia |Impaired taurocholate transport|Potential protein deficiency	ICGC,
chr11	28774034	28774034	A	G	intergenic	MIR8068,KCNA4	unknown	SNV	-	-	-	3.228e-05	rs538579699	-	0.000199681	-	-	-	-	CMDI-UK|1|136|0.00735	-	-	-,behavior/neurological phenotype	-,-	ICGC,
chr12	91287065	91287065	G	A	intergenic	LINC00936,LINC00615	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5331369	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr2	127301295	127301295	G	A	intergenic	CNTNAP5,GYPC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Autism,Glycophorin C variant|Gerbich-negative blood group|Elliptocytosis|Duch blood group	ICGC,
chr3	12203184	12203184	C	T	intronic	SYN2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	SKCM|2|368|0.00543	-	-	-	behavior/neurological phenotype	Autism spectrum disorder|Epilepsy  	TCGA,
chr16	82257551	82257551	G	A	intergenic	MPHOSPH6,CDH13	unknown	SNV	-	-	-	0.6419	rs2967340	-	0.496605	-	0.572	-	-	LAML-KR|1|205|0.00488	-	-	-,mortality/aging	-,Higher adiponectin levels|Amyotrophic lateral sclerosis 	ICGC,
chr15	94930385	94930385	C	T	intronic	MCTP2	unknown	SNV	-	-	-	3.234e-05	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-	Coarctation of the aorta |Coarctation of the aorta and hypoplastic left heart syndrome 	ICGC,
chr4	127697772	127697772	C	T	intergenic	MIR2054,INTU	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Anorectal malformation	ICGC,
chr12	83030386	83030386	T	C	intergenic	METTL25,TMTC2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16317321	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr16	34300980	34300980	G	A	intergenic	LINC00273,UBE2MP1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8232126	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	COSMIC,ICGC,
chr4	171855235	171855235	A	G	intergenic	AADAT,LOC100506122	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17795512	-	ESAD-UK|1|301|0.00332	-	-	vision/eye phenotype,-	-,-	COSMIC,ICGC,
chr2	155513062	155513062	C	A	intergenic	LOC100144595,KCNJ3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7110735	-	PACA-AU|1|391|0.00256	-	-	-,cardiovascular system phenotype	-,Schizophrenia, association with  	COSMIC,ICGC,
chr17	36393708	36393708	G	A	ncRNA_intronic	LOC440434	unknown	SNV	-	-	-	0.0001	-	-	-	-	-	COSN8242295	-	PACA-CA|1|268|0.00373	-	-	-	-	COSMIC,ICGC,
chr5	65593206	65593206	A	T	intergenic	SREK1,LOC101928769	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	Altered p53 binding,-	ICGC,
chr19	54544904	54544904	C	T	intronic	VSTM1	unknown	SNV	-	-	-	-	rs555227714	-	-	-	-	COSN23457710	-	EOPC-DE|1|202|0.00495	-	-	-	-	COSMIC,ICGC,
chr8	31224172	31224172	T	C	intergenic	WRN,NRG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	integument phenotype,integument phenotype	Werner syndrome|Thromboembolic disease, association with|Schizophrenia|Sarcomas, association with|Reduced enzyme activity|Partial lipodystrophy with insulin resistance & adult progeria Werner syndrome|Non-hodgkin lymphoma, association with|Lung cancer|Coronary stenosis, reduced risk, association with|Breast cancer, association with|Breast cancer risk in radiographers, association with,Sudden cardiac death, association with|Schizophrenia, association with  |Schizophrenia in African Americans, association with|Prepulse inhibition, association with|Perceptual aberration of schizotypal personality, association with|Increased lateral ventricle volume in schizophrenia|Hirschsprung disease|Developmental delay, hypotonia & microcephaly|Alzheimers disease, association with	ICGC,
chrX	55479393	55479393	G	A	exonic	MAGEH1	nonsynonymous	SNV	0.141	0.034	-	-	-	-	-	-	-	COSM6119451	LUAD|1|543|0.00184	-	-	-	-	-	COSMIC,TCGA,
chr2	147613791	147613799	TGATTGTTT	-	intergenic	PABPC1P2,ACVR2A	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,-	ICGC,
chr20	15295337	15295337	C	T	intronic	MACROD2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Kabuki syndrome|Attention deficit hyperactivity disorder 	ICGC,
chr15	54067265	54067269	TTTTT	-	intergenic	WDR72,UNC13C	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,behavior/neurological phenotype	Amelogenesis imperfecta|Hypomaturation amelogenesis imperfecta,Developmental delay  	ICGC,
chr21	34797183	34797191	GATTACTGG	-	intronic	IFNGR2	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	hematopoietic system phenotype	Non-Hodgkin lymphoma, increased risk, association with|Mycobacterial infection|Multiple cutaneous squamous cell carcinomas |BCG infection	ICGC,
chrX	98913959	98913959	G	A	ncRNA_intronic	XRCC6P5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr5	138914898	138914898	T	G	intergenic	TMEM173,UBE2D2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging,reproductive system phenotype	Defective IFNbeta stimulation,-	ICGC,
chr1	187104516	187104516	G	A	intergenic	PLA2G4A,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Asthma, association with|Cryptogenic multifocal ulcerating stenosing enteritis|Increased enzyme activity|Prostanoid biosynthesis deficiency,-	ICGC,
chr21	20347229	20347229	G	A	intergenic	LOC101927797,LINC00320	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr20	49848869	49848869	A	G	intergenic	KCNG1,NFATC2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	RECA-EU|1|422|0.00237	-	-	-,hematopoietic system phenotype	-,Developmental delay, facial dysmorphism & skeletal anomalies	ICGC,
chr4	28631968	28631968	G	A	intergenic	STIM2,MIR4275	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	-,-	ICGC,
chr2	179911321	179911321	G	A	intronic	CCDC141	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr3	169848768	169848768	C	A	intronic	PHC3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26894493	-	UTCA-FR|1|20|0.05000	-	-	-	-	COSMIC,ICGC,
chr2	198518047	198518047	G	A	intronic	RFTN2	unknown	SNV	-	-	-	0.0017	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr16	82507136	82507136	T	C	intergenic	MPHOSPH6,CDH13	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,Higher adiponectin levels|Amyotrophic lateral sclerosis 	ICGC,
chr9	14739975	14739975	-	A	intronic	FREM1	unknown	insertion	-	-	-	0.0055	-	-	-	-	-	-	-	GACA-JP|1|585|0.00171	-	-	integument phenotype	Bifid nose, renal agenesis & anorectal malformations syndrome|Craniosynostosis, isolated metopic|Diaphragmatic hernia, congenital|Manitoba-oculo-tricho-anal syndrome |Manitoba-oculo-tricho-anal syndrome with renal agenesis|Manitoba-oculo-tricho-anal syndrome with renal dysplasia	ICGC,
chr6	152979538	152979538	A	G	intergenic	SYNE1,MYCT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	Schizophrenia|Muscular dystrophy, Emery-Dreifuss|Intellectual disability, spastic paraplegia, axon neuropathy & leukoencephalopathy|Cerebellar ataxia|Cardiomyopathy, dilated|Autism spectrum disorder|Autism|Arthrogryposis multiplex congenita with axoglial defects|Arthrogryposis ,-	ICGC,
chr13	54781336	54781336	A	T	intergenic	LINC00458,MIR1297	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,-	-,-	ICGC,
chr14	106441593	106441593	A	G	intergenic	ADAM6,LINC00226	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	ICGC,
chr4	76895298	76895298	C	T	intronic	SDAD1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20086741	-	-	-	-	-	-	COSMIC,
chr3	118598408	118598408	T	C	intergenic	LINC00901,IGSF11	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23517866	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr1	55252730	55252730	A	C	exonic	TTC22	nonsynonymous	SNV	0.004	0.856	-	-	-	-	-	-	-	COSM1602562	-	LINC-JP|2|394|0.00508	-	-	-	-	COSMIC,COSMIC,ICGC,
chr1	96166059	96166059	C	T	intergenic	LOC100996635,LOC101928241	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	116335096	116335096	C	T	intergenic	NDST4,MIR1973	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	1169644	1169644	G	T	UTR3	B3GALT6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	Autism, non-complex|Ehlers-Danlos syndrome-like|Ehlers-Danlos syndrome, progeroid type|Spondyloepimetaphyseal dysplasia with joint laxity	ICGC,
chr6	29567816	29567816	A	G	intergenic	OR2H2,GABBR1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1330747	-	-	-	-	-,integument phenotype	-,Temporal lobe epilepsy, association with	COSMIC,
chr1	196186600	196186600	T	C	intergenic	NONE,KCNT2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5200438	-	-	-	-	-,-	-,-	COSMIC,
chr2	227898009	227898009	T	-	intronic	COL4A4	unknown	deletion	-	-	-	0.0001	-	-	-	-	-	-	-	GACA-JP|1|585|0.00171	-	-	mortality/aging	Thin basement membrane disease|Nephritis|Microhaematuria and proteinuria|Macroscopic haematuria with microhaematuria|End-stage renal disease/intermittent haematuria.|Deafness  |Benign haematuria|Alport syndrome.|Alport syndrome	ICGC,
chr7	30526842	30526842	G	A	intergenic	NOD1,GGCT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	immune system phenotype,-	Ulcerative colitis, reduced risk, association with  |Ulcerative colitis, increased risk, association with  |Potential protein deficiency|Ischaemic stroke, with Chlamydia pneumoniae infection, association with|Inflammatory bowel disease, association with|Inflammatory bowel disease, age at onset, association with|Helicobacter pylori-induced duodenal ulcer and gastritis, association|Asthma and IgE levels, association with,-	ICGC,
chr12	10458522	10458522	G	A	intronic	KLRD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	immune system phenotype	-	ICGC,
chr4	6026269	6026269	G	A	intergenic	MIR378D1,JAKMIP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr7	9289081	9289081	A	C	intergenic	NXPH1,PER4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Breast cancer, increased risk  ,-	ICGC,
chr20	11800209	11800209	G	A	ncRNA_intronic	LINC00687	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr5	112960135	112960135	G	A	intergenic	YTHDC2,KCNN2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,-	ICGC,
chr15	101052239	101052239	T	C	intronic	CERS3	unknown	SNV	-	-	-	-	rs374564849	-	-	-	-	COSN27326771	-	BTCA-SG|1|71|0.01408	-	-	integument phenotype	Ichthyosis, congenital & Weill-Marchenasi-like syndrome|Ichthyosis, congenital, autosomal recessive	COSMIC,ICGC,
chr6	33052723	33052723	C	G	intronic	HLA-DPB1	unknown	SNV	-	-	-	0.0023	rs9277454	0.2616	0.458666	-	0.304	COSM5424410	-	COCA-CN|2|321|0.00623,LAML-KR|2|205|0.00976	-	-	-	Rheumatoid arthritis, susceptibility, association|Respiratory disease, aspirin-exacerbated|Null allele|Multiple sclerosis, susceptibility to, association with |HBV infection, association with|Beryllium disease, chronic, association with	COSMIC,COSMIC,COSMIC,ICGC,
chr2	4947102	4947102	-	ATTTTATTTTATTTTATTTT	intergenic	LINC01249,LINC01248	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|2|67|0.02985	-	-	-,-	-,-	ICGC,
chr12	81120569	81120569	A	G	intergenic	MYF5,LOC101928420	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	mortality/aging,-	-,-	ICGC,
chr2	167662197	167662197	TC	GT	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr15	61467723	61467723	T	C	intronic	RORA	unknown	SNV	-	-	-	5.051e-05	rs563791265	-	0.000599042	-	-	-	-	PBCA-US|1|186|0.00538	-	-	integument phenotype	Obesity	ICGC,
chr2	100011844	100011844	T	C	intronic	EIF5B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	-	ICGC,
chr13	107734379	107734379	G	A	intergenic	LINC00443,FAM155A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493,LIRI-JP|1|258|0.00388	-	-	-,-	-,-	ICGC,
chr18	39290723	39290723	C	T	intergenic	KC6,PIK3C3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,mortality/aging	-,Intellectual disability  |Bipolar disorder/schizophrenia association with|Anti-Ro & anti-Sm antibodies, in lupus, in African-Americans, association	ICGC,
chr6	57934877	57934877	G	A	intergenic	PRIM2,GUSBP4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	Potential protein deficiency,-	ICGC,
chr7	72412827	72412827	C	T	exonic	POM121	synonymous	SNV	-	-	-	-	-	-	-	-	-	-	STAD|1|395|0.00253,STES|1|395|0.00253	-	-	-	-	-	TCGA,
chr15	23169736	23169736	A	G	intergenic	LOC283683,WHAMMP3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr7	86074669	86074669	C	T	intergenic	SEMA3D,GRM3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,behavior/neurological phenotype	Total anomalous pulmonary venous connection|Tetralogy of Fallot|Hirschsprung disease   ,Schizophrenia, association with|Major depressive disorder, association with	ICGC,
chr5	97013116	97013116	T	C	intergenic	LINC01340,RGMB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,mortality/aging	-,-	ICGC,
chr3	6437180	6437180	A	C	intergenic	MIR4790,LOC101927347	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr17	68488063	68488063	A	G	intergenic	KCNJ2,CASC17	unknown	SNV	-	-	-	0.1812	rs4793375	-	0.29992	-	0.174	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	Long QT syndrome|Long QT syndrome.|Periodic paralysis|Short QT syndrome|Short QT syndrome 3|Sudden cardiac death  |Ventricular tachycardia|Catecholaminergic polymorphic ventricular tachycardia.|Atrial fibrillation.|Andersen syndrome|Andersen syndrome & catecholaminergic polymorphic ventricular tachycardia mimickry|Andersen-Tawil syndrome|Andersen-Tawil syndrome, without cardiac involvement|Andersen-Tawil syndrome.|Arrhythmia|Atrial fibrillation,-	ICGC,
chr19	33626807	33626807	A	T	intronic	WDR88	unknown	SNV	-	-	-	0.5025	rs11672753	-	0.642572	-	0.167	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr13	100751193	100751193	C	T	intronic	PCCA	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1596416	-	LIRI-JP|1|258|0.00388	-	-	integument phenotype	Propionic acidaemia	COSMIC,ICGC,
chr4	5262634	5262634	G	A	intronic	STK32B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr16	13207535	13207535	C	A	intronic	SHISA9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr8	60193887	60193887	G	C	intergenic	TOX,CA8	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20356386	-	COCA-CN|1|321|0.00312	-	-	hematopoietic system phenotype,behavior/neurological phenotype	Pulmonary tuberculosis, association  with,Ataxia, cerebellar hypoplasia|Cerebellar ataxia and quadrupedal locomotion|Cerebellar ataxia, mental retardation & dysequilibrium syndrome 3	COSMIC,ICGC,
chr7	110802	110802	C	T	intergenic	NONE,LOC100507642	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr10	66737850	66737850	A	G	intergenic	ANXA2P3,LOC101928913	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22499809	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr3	141886810	141886810	C	T	intronic	GK5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr5	151716945	151716945	G	A	intergenic	CTB-12O2.1,NMUR2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,-	ICGC,
chr9	129030515	129030515	T	C	intergenic	PBX3,LOC101929116	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7556798	-	PACA-AU|1|391|0.00256	-	-	integument phenotype,-	Congenital heart defects,-	COSMIC,ICGC,
chr3	18210081	18210081	G	A	intronic	LOC339862	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr15	42187470	42187470	A	G	intergenic	SPTBN5,EHD4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	Schizophrenia|Potential protein deficiency|Autism spectrum disorder,-	ICGC,
chr9	12342156	12342156	C	T	intergenic	PTPRD-AS2,TYRP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,integument phenotype	-,Albinism, oculocutaneous  |Albinism, oculocutaneous 3|Melanesian blond hair	ICGC,
chr2	115597897	115597897	A	C	intronic	DPP10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	Autism spectrum disorder	ICGC,
chr14	43357235	43357235	A	G	intergenic	LRFN5,FSCB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	-,-	Short stature|Developmental delay, seizures & learning problems ,Tourette syndrome 	ICGC,
chr4	71548429	71548435	TTTTTTT	-	intergenic	IGJ,UTP3	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	integument phenotype,-	-,-	ICGC,
chrX	40660177	40660177	T	C	intergenic	MED14OS,LOC100132831	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN4790513	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	COSMIC,ICGC,
chr12	19654213	19654213	C	T	intronic	AEBP2	unknown	SNV	-	-	-	0.1886	rs9739653	-	0.239617	-	0.188	-	-	LAML-KR|2|205|0.00976	-	-	integument phenotype	-	ICGC,
chr2	131601515	131601515	C	T	intergenic	AMER3,ARHGEF4	unknown	SNV	-	-	-	3.232e-05	-	-	-	-	-	COSN19169458	-	CLLE-ES|1|510|0.00196	-	-	-,integument phenotype	-,Tetralogy of Fallot	COSMIC,ICGC,
chr7	70871556	70871556	C	T	intronic	WBSCR17	unknown	SNV	-	-	-	-	rs187110689	-	0.000199681	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr7	46353219	46353219	C	T	intergenic	IGFBP3,TNS3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,mortality/aging	Prostate cancer, increased risk|Plasma IGFBP-3 levels, association with|Pancreatic cancer, clinical outcome, association with|Lung cancer, increased risk, association with|Increased IGFBP-3 levels, association with|IGFBP-3 levels|Higher promoter activity, association with|Drug response, association with|Decreased IGFBP-3 levels, association with|Colorectal cancer, association with,Renal agenesis, pulmonary infections & growth/developmental delay	ICGC,
chr14	30962498	30962498	C	T	intergenic	PRKD1,G2E3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21578372	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	mortality/aging,mortality/aging	Autism spectrum disorder|Mental retardation and microcephaly|Obesity ,-	COSMIC,COSMIC,ICGC,
chrX	27185589	27185589	C	T	intergenic	VENTXP1,SMEK3P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr14	77920582	77920582	A	C	intronic	VIPAS39	unknown	SNV	-	-	-	0.0002	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	Arthrogryposis, renal dysfunction and cholestasis|Potential protein deficiency	ICGC,
chr1	158225118	158225118	C	A	exonic	CD1A	stopgain	SNV	-	-	2.868e-05	-	rs147750753	4.996e-05	-	-	-	-	LUAD|1|543|0.00184	-	-	-	-	CD1A deficiency|Guillain-Barre syndrome, reduced risk, association with 	TCGA,
chr4	133384455	133384455	C	A	intergenic	NONE,PCDH10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,mortality/aging	-,Schizophrenia|Potential protein deficiency	ICGC,
chr4	146228600	146228600	T	G	intergenic	OTUD4,SMAD1	unknown	SNV	-	-	-	0.0002	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,mortality/aging	Autism spectrum disorder|Hypogonadotropic hypogonadism, ataxia & dementia,Pulmonary arterial hypertension	ICGC,
chr3	25265520	25265520	A	G	intronic	RARB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	CLLE-ES|1|510|0.00196	-	-	mortality/aging	Microphthalmia and diaphragmatic hernia|PDAC syndrome	ICGC,
chr14	56308499	56308499	C	T	intergenic	LINC00520,PELI2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26342927	-	PRAD-UK|1|140|0.00714	-	-	-,-	-,-	COSMIC,ICGC,
chrX	113248217	113248217	C	A	intergenic	LOC101928437,HTR2C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Tourette syndrome, association with|Tardive dyskinesia, association with|Suicide, association with|Reduced promoter activity|Premature ejaculation, association with|Increased promoter activity, association with|Hallucinations, in Alzheimer disease, association|Greater dopamine release|Alcohol use disorder comorbidity, association with|Anxiety, and Appetite disturbances in females, in Alzheimer disease, association with.|Bipolar affective disorder, association with|BMI, association with|Depression, in Alzheimer disease, association with.|Diabetes, association with	ICGC,
chr2	41533717	41533717	A	G	intergenic	SLC8A1,LOC388942	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	mortality/aging,-	Colorectal cancer, increased risk, association with |Schizophrenia  ,-	ICGC,
chr1	19957755	19957755	C	A	intronic	MINOS1-NBL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-	-	ICGC,
chr2	26762749	26762749	A	T	intronic	OTOF	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	behavior/neurological phenotype	Sensorineural hearing loss.|Sensorineural hearing loss, nonsyndromic|Hearing loss.|Hearing loss, nonsyndromic|Hearing loss, non-syndromic|Deafness, non-syndromic, autosomal recessive|Deafness, non-syndromic|Deafness, autosomal recessive 9|Auditory neuropathy|Auditory neuropathy spectrum disorder |Auditory neuropathy spectrum disorder.|Auditory neuropathy, temperature-sensitive|Auditory neuropathy/auditory dys-synchrony, with progressive sensorineural hearing loss.|Deafness  	ICGC,
chr15	26884691	26884691	T	G	intronic	GABRB3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Neurological deficits of Angelman syndrome|Mesial temporal lobe epilepsy with depression, association with|Increased promoter activity|Epilepsy, childhood absence, association with|Chronic insomnia |Autism, association with |Autism spectrum disorder|Anorectal malformation	ICGC,
chr4	164866374	164866374	T	C	intronic	MARCH1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype	-	ICGC,
chr8	36465229	36465229	A	C	intergenic	UNC5D,KCNU1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15283135	-	ESAD-UK|1|301|0.00332	-	-	-,reproductive system phenotype	-,Schizophrenia  	COSMIC,ICGC,
chr3	5051294	5051294	C	T	intergenic	BHLHE40,ARL8B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype,-	-,-	ICGC,
chr1	79126672	79126672	T	C	intronic	IFI44	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17991628	-	SKCA-BR|1|100|0.01000	-	-	-	-	COSMIC,ICGC,
chrX	132135411	132135411	G	A	intergenic	HS6ST2,USP26	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	cellular phenotype,-	-,Azoospermia / oligozoospermia|Infertility, idiopathic 	ICGC,
chr21	17994822	17994822	C	A	intergenic	LINC00478,C21orf37	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr14	58637879	58637879	A	G	intergenic	C14orf37,ACTR10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr4	182917351	182917351	T	C	intergenic	LINC00290,MGC45800	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6818860	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr6	123239399	123239399	G	A	intergenic	SMPDL3A,CLVS2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|3|183|0.01639	-	-	-,-	-,-	ICGC,
chr7	57018920	57018920	-	T	intergenic	LOC100130849,MIR4283-1	unknown	insertion	-	-	-	0.1317	rs201882591	-	0.105631	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr17	72606078	72606078	G	A	UTR3	CD300E	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr3	165658075	165658075	C	T	intergenic	BCHE,ZBBX	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging,-	Serum cholinesterase deficiency|Potential protein deficiency|Obesity and triglyceride levels, association with|Hypocholinesterasaemia|Fronto-temporal dementia, association with|Cholinesterasaemia|Butyrylcholinesterase variant|Butyrylcholinesterase deficiency|Addiction to crack cocaine, association with|Acholinesterasaemia,-	ICGC,
chr3	43102806	43102806	C	T	intergenic	FAM198A,POMGNT2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Walker-Warburg syndrome	ICGC,
chr4	184889502	184889502	-	TACA	intronic	STOX2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	-	ICGC,
chr20	60733984	60733984	T	G	intronic	SS18L1	unknown	SNV	0.001	-	-	-	-	-	-	-	-	COSM5568425	-	-	-	-	mortality/aging	Amyotrophic lateral sclerosis  	COSMIC,
chr6	86492210	86492210	C	T	intergenic	SNHG5,HTR1E	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr6	105034220	105034220	G	A	intergenic	NONE,HACE1	unknown	SNV	-	-	-	3.237e-05	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,tumorigenesis	-,Wilms tumour 	ICGC,
chr6	135097229	135097229	C	A	intergenic	LINC01010,ALDH8A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr20	19156746	19156746	G	A	intergenic	C20orf78,SLC24A3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr14	93040615	93040615	A	G	intronic	RIN3	unknown	SNV	-	-	-	3.229e-05	rs765304784	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-	-	ICGC,
chr4	35271980	35271980	T	G	intergenic	NONE,ARAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LAML-KR|1|205|0.00488	-	-	-,-	-,-	ICGC,
chr17	30233846	30233846	C	T	intergenic	UTP6,SUZ12	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26399898	-	PRAD-UK|1|140|0.00714	-	-	-,mortality/aging	-,-	COSMIC,ICGC,
chr2	134461500	134461500	G	A	intergenic	NCKAP5,MIR3679	unknown	SNV	-	-	-	0.0216	rs74899748	-	0.0265575	-	0.029	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Epilepsy  |Cervical artery dissection|Autism,-	ICGC,
chr10	115566768	115566768	T	C	intergenic	PLEKHS1,DCLRE1A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,mortality/aging	-,Colorectal cancer 	ICGC,
chr4	19088271	19088271	G	A	intergenic	LCORL,SLIT2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Schizophrenia  	ICGC,
chr16	80789342	80789342	A	G	intronic	CDYL2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr3	146221260	146221260	A	G	intergenic	PLSCR2,PLSCR1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,hematopoietic system phenotype	-,-	ICGC,
chr6	158955484	158955487	GTGT	-	intergenic	TULP4,TMEM181	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	Short stature,-	ICGC,
chr4	63671336	63671336	C	T	intergenic	LPHN3-AS1,TECRL	unknown	SNV	-	-	-	3.49e-05	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr5	163215969	163215969	C	T	intergenic	MAT2B,LOC101927835	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr2	89159311	89159311	A	T	intergenic	MIR4436A,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25496437	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	COSMIC,ICGC,
chr2	51878139	51878139	A	C	intergenic	NRXN1,ASB3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23602898	-	ESAD-UK|2|301|0.00664,MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Hypotonia|Hypotonia & encephalopathy|Increased white matter volume, association with|Intellectual disability  |Intellectual disability & attention deficit hyperactivity disorder|Intellectual disability & hearing loss|Intellectual disability & pervasive developmental disorder|Intellectual disability and autism|Intellectual disability, nonsyndromic |Intellectual disability, seizures, dysmorphisms & language delay|Growth retardation  |Epilepsy, myoclonic seizures & speech delay|Developmental disorder|Developmental disorder & attention deficit hyperactivity disorder|Developmental disorder, seizures & attention deficit hyperactivity disorder|Developmental/intellectual disability, hypotonia & dysmorphic features|Disorder of muscle, ligament & fascia|Encephalopathy  |Epilepsy  |Epilepsy with cognitive impairment / autism spectrum disorder|Epilepsy with focal seizures|Epilepsy, generalised |Intellectual disability, seizures, language delay & hypotonia|Language delay|Learning difficulties|Respiratory distress & sepsis|Respiratory distress syndrome|Schizophrenia |Schizophrenia, childhood onset |Schizophrenia, disorganised type|Seizures, generalized tonic-clonic & attention deficit hyperactivity disorder|Sensory integration disorder & attention deficit hyperactivity disorder|Speech delay & social communication difficulties|Tourette syndrome|Pervasive developmental disorder / hypotonia|Pervasive developmental disorder|Pervasive developmental delay / mental retardation, lack of coordination & hearing loss|Learning difficulties, ADHD & autism|Mental retardation|Mental retardation, autism, vertebral malformations|Mental retardation, Pitt-Hopkins-like|Microcephaly & mental retardation|Multiple congenital anomalies  |Multiple disabilities|Myoclonic epilepsy   |Neurodevelopmental disorder  |Vertebral anomalies|Developmental delay, speech delay & social communication difficulties|Attention deficit hyperactivity disorder |Autism spectrum disorder, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability & language delay|Autism spectrum disorder, intellectual disability, dysmorphisms, developmental delay & language delay|Autism spectrum disorder, intellectual disability, seizures & developmental delay|Autism spectrum disorder, intellectual disability, seizures, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability, seizures, dysmorphisms & language delay|Autism spectrum disorder, seizures, developmental delay & language delay|Autism, intellectual disability & attention deficit hyperactivity disorder|Autistic disorder|Autism spectrum disorder with developmental & speech delay|Autism spectrum disorder & seizures|Autism spectrum disorder & language delay|Autism |Autism & learning difficulties|Autism & mental retardation|Autism & seizures|Autism spectrum disorder|Autism spectrum disorder & attention deficit hyperactivity disorder|Autism spectrum disorder & developmental delay|Autism spectrum disorder & dysmorphic features|Autism spectrum disorder & intellectual disability|Behavioural problems|Congenital heart defect  |Craniofacial dysmorphism|Developmental delay & speech/motor delay|Developmental delay with early-onset epilepsy|Developmental delay, dysmorphic features & short stature|Developmental delay, epilepsy, autism|Developmental delay, language delay & hypotonia|Developmental delay, learning difficulties, ADHD|Developmental delay, microcephaly & behavioural problems|Developmental delay, pulmonic stenosis & autism spectrum disorder|Developmental delay, short stature and diaphragmatic hernia|Developmental delay, speech delay & microcephaly|Developmental delay & seizures|Developmental delay & seizure disorder|Cystic hygroma, hydrops & micrognathia|Cystic hygroma, shortened upper limbs & fetal demise|Developmental & speech delay|Developmental delay|Developmental delay / autism|Developmental delay & autism|Developmental delay & dysmorphic features|Developmental delay & epilepsy|Developmental delay & hypotonia|Developmental delay & multiple congenital anomalies,-	COSMIC,ICGC,
chr7	86134210	86134210	G	T	intergenic	SEMA3D,GRM3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,behavior/neurological phenotype	Total anomalous pulmonary venous connection|Tetralogy of Fallot|Hirschsprung disease   ,Schizophrenia, association with|Major depressive disorder, association with	ICGC,
chr18	73737948	73737948	G	A	intergenic	SMIM21,LOC339298	unknown	SNV	-	-	-	-	rs552179568	-	0.000199681	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	ICGC,
chr2	185603041	185603041	C	T	intronic	ZNF804A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Neurodevelopmental disease|Reduced cortical gray matter thickness|Schizophrenia and bipolar disorder, association with|Schizophrenia, association with  	ICGC,
chr16	47047929	47047929	C	T	intergenic	DNAJA2,NETO2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25960872	-	ESAD-UK|1|301|0.00332	-	-	-,nervous system phenotype	Schizophrenia  ,-	COSMIC,ICGC,
chr2	111055844	111055844	C	T	intergenic	MIR4436B1,LINC01106	unknown	SNV	-	-	-	0.0003	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr7	62643334	62643334	C	T	intergenic	NONE,ZNF733P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	155496588	155496588	-	T	intergenic	FGB,FGA	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN18779389	-	-	-	-	-,integument phenotype	Increased C-reactive protein levels, association with|Increased clot stiffness, association with|Increased plasma fibrinogen level, association with|Increased plasma fibrinogen levels|Lower fibrinogen levels, association with|Pulmonary thromboembolism in Chinese, association with|Recurrent pregnancy loss, association with|Thrombotic tendency|Venous thromboembolism, protection against, in Caucasians, association with|Hypofibrinogenaemia|Hypodysfibrinogenaemia|Hypertension in men, association with|Afibrinogenaemia|Afibrinogenaemia / hypofibrinogenaemia|Antihypertensive pharmacogenetic effects|Atherosclerosis, association with |Cerebral infarction, association with|Coronary artery disease, reduced risk, association with|Dysfibrinogenaemia|Fibrinogen variant|Haemorrhages,Hypodysfibrinogenaemia|Hypofibrinogenaemia|Increased post-stroke mortality, association with|Ischemic stroke, reduced risk, association with|Menorrhagia|Pulmonary embolism, association with|Thrombosis|Venous thromboembolism, association with|Venous thromboembolism, in Caucasians, association with|Venous thromboembolism, susceptibility, association with|Haemorrhages|Fibrinogen variant|Dysfibrinogenaemia.|Afibrinogenaemia|Afibrinogenaemia / hypofibrinogenaemia|Amyloidosis, cardiac|Amyloidosis, renal|Amyloidosis, systemic.|Chronic thromboembolic pulmonary hypertension, association with|Decreased fibrinogen levels |Deep vein thrombosis  |Deep vein thrombosis, association with|Dysfibrinogenaemia	COSMIC,
chr5	7297327	7297327	G	A	intergenic	MIR4454,LOC442132	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21397362	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr7	78208887	78208887	A	C	intronic	MAGI2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging	Seizures|Schizophrenia|Myoclonic epilepsy |Infantile spasms in Williams-Beuren syndrome|Infantile spasms|Developmental delay & microcephaly|Developmental delay  |Developmental and/or speech and/or behavioural problems	ICGC,
chr10	118222660	118222660	A	G	intronic	PNLIPRP3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6942590	-	PACA-AU|1|391|0.00256	-	-	-	-	COSMIC,ICGC,
chr6	43173727	43173727	G	T	intronic	CUL9	unknown	SNV	-	-	8.184e-06	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	mortality/aging	-	ICGC,
chr11	1338583	1338583	C	A	intergenic	TOLLIP-AS1,BRSK2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,integument phenotype	-,Autism	ICGC,
chr6	3548872	3548872	A	T	intergenic	SLC22A23,PXDC1	unknown	SNV	-	-	-	0.1596	rs12526341	-	0.154752	-	0.159	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr15	26428782	26428782	T	A	intergenic	LINC00929,GABRB3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Neurological deficits of Angelman syndrome|Mesial temporal lobe epilepsy with depression, association with|Increased promoter activity|Epilepsy, childhood absence, association with|Chronic insomnia |Autism, association with |Autism spectrum disorder|Anorectal malformation	ICGC,
chr9	1155623	1155623	C	T	intergenic	DMRT2,SMARCA2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,integument phenotype	-,Short stature|Schizophrenia, association with   |Nicholaides-Baraitser syndrome|Multiple congenital anomalies  |Lung cancer, association with|Intellectual disabilty, short stature and dysmorphisms|Hepatocellular carcinoma, in smokers, association with.|Hepatocellular carcinoma, association with.|Developmental delay & dysmorphic features|Developmental delay & autistic features|Developmental delay  |Coffin-Siris syndrome	ICGC,
chr2	27088044	27088044	C	T	intronic	DPYSL5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	-	ICGC,
chr11	106276919	106276919	A	-	intergenic	LOC101928535,GUCY1A2	unknown	deletion	-	-	-	0.0003	-	-	-	-	-	-	-	PACA-AU|1|391|0.00256	-	-	-,hematopoietic system phenotype	-,-	ICGC,
chr2	52097010	52097010	CC	TT	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr1	198418969	198418969	A	T	intergenic	NEK7,ATP6V1G3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,-	-,-	ICGC,
chrX	121300805	121300805	A	T	intergenic	GLUD2,GRIA3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25207589	-	MALY-DE|1|241|0.00415	-	-	-,integument phenotype	Parkinson disease, earlier onset, association with,Mental retardation, X-linked|Intellectual disability, X-linked with facial dysmorphism|Intellectual disability, X-linked|Autism spectrum disorder	COSMIC,ICGC,
chr13	56235935	56235935	C	T	intergenic	MIR5007,PRR20A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24779388	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	COSMIC,ICGC,
chr12	88136336	88136336	G	A	intergenic	MGAT4C,MKRN9P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Prostate cancer, increased risk |Mental retardation,-	ICGC,
chr1	63621081	63621081	G	T	intergenic	ATG4C,LINC00466	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27697022	-	NKTL-SG|1|50|0.02000	-	-	behavior/neurological phenotype,-	-,-	COSMIC,ICGC,
chr7	55885170	55885170	-	A	intronic	SEPT14	unknown	insertion	-	-	-	0.1764	rs58158456	-	0.351238	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr7	137285488	137285488	A	G	intronic	DGKI	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	tumorigenesis	-	ICGC,
chr10	111770329	111770329	G	A	intronic	ADD3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1470993	-	LIRI-JP|1|258|0.00388	-	-	hematopoietic system phenotype	Cerebral palsy  	COSMIC,ICGC,
chr3	154194779	154194779	C	T	intergenic	GPR149,MME	unknown	SNV	-	-	-	9.697e-05	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588,PBCA-DE|1|499|0.00200	-	-	reproductive system phenotype,integument phenotype	-,Alzheimer disease, association with|Anxiety, association with|Cerebral amyloid angiopathy, severity, association with|Fetomaternal alloimmunisation|Increased enzyme activity|Reduced enzyme activity	ICGC,
chr11	104654704	104654704	A	G	intergenic	LOC102723895,CASP12	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,mortality/aging	-,Sepsis, susceptibility, association with	ICGC,
chr10	54431237	54431237	C	T	intergenic	LOC101928687,MBL2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,hematopoietic system phenotype	-,Leprosy, association with|Lung cancer survival, association with|Mannose-binding protein deficiency, association|Placental malaria, susceptibility to, association with|Systemic lupus erythematosus, association with|Tuberculosis, protection against, association with|Type 2 diabetes, association with|Ulcerative colitis, association with.|Vulvovaginal candidiasis, recurrent, association with|Lepromatous leprosy, protection against, association with|Kawasaki disease, association with|Antiphospholipid syndrome, association with|Bacterial infection, increased risk, association with|Colon cancer, association with|Crohn's disease, in children, association with|Dental caries, association with.|HIV-1 infection, increased susceptibility, association with|HIV-1 infection, susceptibility, association|Increased serum MBL level |Infection, in children, association with.	ICGC,
chr10	12330512	12330512	C	A	intergenic	CDC123,CAMK1D	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr19	49768762	49768762	G	A	intergenic	TRPM4,SLC6A16	unknown	SNV	-	-	-	0.0004	rs188482688	-	0.00139776	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype,-	Brugada syndrome    |Cardiac conduction disease, isolated|Heart block type 1,-	ICGC,
chr7	30393881	30393882	TG	-	intronic	ZNRF2	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr6	159654058	159654058	G	A	exonic	FNDC1	synonymous	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr10	6710273	6710273	C	T	intergenic	LOC101928150,LINC00706	unknown	SNV	-	-	-	0.0057	rs139881982	-	0.00479233	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	17678038	17678038	T	C	intergenic	LOC401177,CDH18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	-,Anorectal malformation	ICGC,
chr3	18221814	18221814	G	C	intronic	LOC339862	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr5	4477259	4477259	G	T	intergenic	IRX1,LOC101929153	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr16	26137364	26137364	C	T	intronic	HS3ST4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr10	117276422	117276422	T	G	intronic	ATRNL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	integument phenotype	Cognitive impairment, autism & dysmorphic features 	ICGC,
chr5	137772084	137772084	G	C	UTR3	KDM3B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9926768	-	RECA-EU|1|422|0.00237	-	-	-	-	COSMIC,ICGC,
chr1	243732276	243732276	GG	AA	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr8	57297915	57297915	T	C	ncRNA_intronic	SDR16C6P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr12	86507135	86507135	T	C	intronic	MGAT4C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	Prostate cancer, increased risk |Mental retardation	ICGC,
chr2	4184815	4184815	C	T	intergenic	LINC01304,LINC01249	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	82436070	82436070	G	T	exonic	LPHN2	nonsynonymous	SNV	0.0	1.0	-	-	-	-	-	-	-	-	LUAD|1|543|0.00184	-	-	-	mortality/aging	Schizophrenia	TCGA,
chr19	36222908	36222908	G	A	exonic	KMT2B	nonsynonymous	SNV	0.18	0.071	2.44e-05	-	rs770989958	5.168e-05	-	-	-	COSM6821372	-	-	-	-	-	-	COSMIC,COSMIC,
chr6	111697924	111697924	G	C	exonic	REV3L	nonsynonymous	SNV	0.0	1.0	-	-	-	-	-	-	-	COSM6570130	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging	Lung cancer, reduced risk  |Colorectal cancer, increased risk, association with	COSMIC,COSMIC,ICGC,
chrX	99538378	99538378	C	A	intergenic	XRCC6P5,PCDH19	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	RECA-EU|1|422|0.00237	-	-	-,-	-,Tonic seizures|Seizures|Generalized tonic-clonic seizures|Focal seizures with secondary generalization|Focal epilepsy|Epileptic encephalopathy|Epilepsy, early-onset|Epilepsy and mental retardation limited to females|Epilepsy & mental retardation|Dravet syndrome  |Asperger syndrome	ICGC,
chr16	24372718	24372718	C	T	exonic	CACNG3	nonsynonymous	SNV	0.14	0.973	-	-	-	-	-	-	-	COSM5054766	-	-	-	-	mortality/aging	-	COSMIC,
chr1	154794999	154794999	C	T	intronic	KCNN3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging	Susceptibility to anorexia nervosa, association with|Schizophrenia, association with|Schizophrenia |Juvenile myoclonic epilepsy, decreased risk, association|Ataxia, association with	ICGC,
chr3	118624868	118624868	T	G	intronic	IGSF11	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr19	51159331	51159331	C	T	exonic	C19orf81	nonsynonymous	SNV	0.007	-	0.0001	0.0002	rs192383921	-	0.000199681	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr13	29380433	29380433	T	C	intergenic	SLC46A3,MTUS2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	ICGC,
chr1	73403038	73403038	G	A	intergenic	NEGR1,LINC01360	unknown	SNV	-	-	-	3.247e-05	rs763907088	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,-	Obesity, association with|Dyslexia |Body mass index, association with|Attention deficit hyperactivity disorder,-	ICGC,
chr14	37228060	37228060	G	A	intronic	SLC25A21	unknown	SNV	-	-	-	0.0003	rs762794439	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	hematopoietic system phenotype	Synpolydactyly	ICGC,
chr4	32401730	32401730	A	C	intergenic	PCDH7,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN4834890	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	COSMIC,ICGC,
chr7	32326087	32326087	A	C	intronic	PDE1C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	taste/olfaction phenotype	Developmental delay  	ICGC,
chr21	16504679	16504679	C	T	intergenic	NRIP1,USP25	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	reproductive system phenotype,hematopoietic system phenotype	Lung cancer, susceptibility to, association with,-	ICGC,
chr7	120217511	120217511	C	T	intronic	KCND2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Epilepsy, temporal lobe	ICGC,
chr4	12771263	12771263	T	G	intergenic	HS3ST1,RAB28	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	-,Breast cancer risk, association with |Cone-rod dystrophy, autosomal recessive	ICGC,
chr11	90387968	90387968	A	G	ncRNA_intronic	DISC1FP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr8	112730489	112730489	-	CCCAACCTC	intergenic	KCNV1,CSMD3	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	ORCA-IN|1|178|0.00562	-	-	behavior/neurological phenotype,-	-,Schizophrenia  |Colorectal cancer 	ICGC,
chr7	111912898	111912898	T	C	intronic	ZNF277	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr2	134114025	134114025	C	T	ncRNA_intronic	MIR7853	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20206913	-	PACA-CA|1|268|0.00373	-	-	-	-	COSMIC,ICGC,
chr4	67801240	67801240	T	G	intergenic	EPHA5-AS1,LOC101927237	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr17	50206129	50206129	C	T	intronic	CA10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Schizophrenia	ICGC,
chr17	54233084	54233084	G	C	intronic	ANKFN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	-	-	ICGC,
chr11	31954865	31954865	G	A	intergenic	DKFZp686K1684,LOC100506675	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	141108494	141108494	T	G	exonic	LRP1B	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM4085136	-	STAD-US|1|289|0.00346	-	-	mortality/aging	Schizophrenia   	COSMIC,ICGC,
chr18	50283694	50283694	C	G	intronic	DCC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	mortality/aging	Altered p53 transactivation|Colorectal cancer, risk, association with |Mirror movements, congenital	ICGC,
chr5	51460843	51460843	A	G	intergenic	ISL1,PELO	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6299922	-	LIRI-JP|1|258|0.00388	-	-	integument phenotype,mortality/aging	Cardiomyopathy, dilated|Diabetes, type 2|Intellectual and developmental disabilities,-	COSMIC,ICGC,
chr4	115584891	115584891	G	A	intronic	UGT8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging	Musical ability, association with	ICGC,
chr21	20354663	20354663	C	T	intergenic	LOC101927797,LINC00320	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr13	57684059	57684059	G	A	intergenic	MIR5007,PRR20A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr8	102338980	102338980	C	T	intergenic	ZNF706,NACAP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	228215359	228215359	T	A	intronic	WNT3A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Osteoporosis	ICGC,
chr4	157175548	157175548	G	T	intergenic	CTSO,PDGFC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	-,Ovarian cancer, poor survival, association with|Cleft lip with or without cleft palate, association|Bilateral cleft lip & thumb polydactyly	ICGC,
chr3	23911330	23911330	C	T	intronic	UBE2E1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21083919	-	BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr3	9539226	9539226	G	A	downstream	LHFPL4	unknown	SNV	-	-	-	3.232e-05	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr16	13465147	13465147	C	T	intergenic	SHISA9,ERCC4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,mortality/aging	-,Xeroderma pigmentosum (F)|Progeroid syndrome|Potential protein deficiency|Lung cancer, susceptibility to|Fanconi anaemia|Combined xeroderma pigmentosum, cockayne syndrome and fanconi anaemia|Cockayne syndrome|Breast cancer  |Breast and/or ovarian cancer|Bladder cancer, increased risk, association with	ICGC,
chr4	189717787	189717787	-	CGCA	intergenic	LINC01060,LINC01262	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN27608219	-	-	-	-	-,-	-,-	COSMIC,
chr2	186139947	186139947	C	T	intergenic	ZNF804A,LOC101927196	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Neurodevelopmental disease|Reduced cortical gray matter thickness|Schizophrenia and bipolar disorder, association with|Schizophrenia, association with  ,-	ICGC,
chr6	128090941	128090941	C	T	intronic	THEMIS	unknown	SNV	-	-	-	-	rs762007767	-	-	-	-	COSN27119832	-	ESAD-UK|1|301|0.00332	-	-	hematopoietic system phenotype	-	COSMIC,ICGC,
chr15	88558110	88558110	-	A	intronic	NTRK3	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BOCA-UK|1|130|0.00769	-	-	mortality/aging	Panic disorder, association with|Obsessive-compulsive disorder, association with|Autism spectrum disorder	ICGC,
chr10	26436520	26436520	T	-	intronic	MYO3A	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	hearing/vestibular/ear phenotype	Deafness|Hearing loss, non-syndromic	ICGC,
chrX	121890438	121890438	G	A	intergenic	GLUD2,GRIA3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7685861	-	PACA-AU|1|391|0.00256	-	-	-,integument phenotype	Parkinson disease, earlier onset, association with,Mental retardation, X-linked|Intellectual disability, X-linked with facial dysmorphism|Intellectual disability, X-linked|Autism spectrum disorder	COSMIC,ICGC,
chr6	54360346	54360346	C	T	intergenic	TINAG,FAM83B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Chronic renal failure, childhood-onset,-	ICGC,
chr8	70053096	70053096	C	T	intergenic	LOC100505718,LOC100505739	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr13	88270149	88270149	C	G	ncRNA_intronic	MIR4500HG	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1632744	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr5	159251970	159251970	C	T	ncRNA_intronic	LOC101927766	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr6	145876782	145876782	-	TAC	intergenic	UTRN,EPM2A	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN24336536	-	-	-	-	mortality/aging,mortality/aging	Arthrogryposis |Schizophrenia,Myoclonic epilepsy of Lafora|Epilepsy, progressive myoclonus	COSMIC,
chr1	205785422	205785422	C	T	intergenic	SLC41A1,PM20D1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	Nephrolithiasis-like phenotype|Parkinson disease,-	ICGC,
chr7	67712045	67712045	A	G	intergenic	LOC102723427,LOC100507468	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17806394	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr2	240331519	240331519	T	G	intergenic	HDAC4,LOC150935	unknown	SNV	-	-	-	0.0045	rs118055744	-	0.0145767	-	-	-	-	LAML-KR|1|205|0.00488	-	-	integument phenotype,-	Anorexia nervosa/bulimia nervosa|Autism spectrum disorder|Brachydactyly mental retardation syndrome|Brachydactyly mental retardation syndrome & hyperoxaluria, type 1,-	ICGC,
chr18	75299646	75299646	G	A	intergenic	GALR1,LINC01029	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PEME-CA|1|112|0.00893	-	-	behavior/neurological phenotype,-	Growth hormone insufficiency,-	ICGC,
chr6	72901921	72901921	G	A	intronic	RIMS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Autism|Cone-rod dystrophy|Retinitis pigmentosa, autosomal dominant	ICGC,
chr20	14815143	14815143	T	G	intronic	MACROD2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8897754	-	ESAD-UK|1|301|0.00332	-	-	-	Kabuki syndrome|Attention deficit hyperactivity disorder 	COSMIC,ICGC,
chr22	27466794	27466794	G	A	intergenic	LINC01422,MN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,-	ICGC,
chr3	122396649	122396649	A	G	intergenic	PARP15,PARP14	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	ICGC,
chr5	75587128	75587128	T	A	exonic	SV2C	nonsynonymous	SNV	1.0	0.001	-	-	-	-	-	-	-	COSM6353881	-	BRCA-KR|1|50|0.02000	-	-	-	-	COSMIC,ICGC,
chr16	31602692	31602692	C	T	intergenic	YBX3P1,CLUHP3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr8	13586461	13586461	G	A	intergenic	C8orf48,SGCZ	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,Cervical artery dissection	ICGC,
chr3	49412784	49412784	G	T	intronic	RHOA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	mortality/aging	-	ICGC,
chr11	104651376	104651376	C	A	intergenic	LOC102723895,CASP12	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5892487	-	LIRI-JP|1|258|0.00388	-	-	-,mortality/aging	-,Sepsis, susceptibility, association with	COSMIC,ICGC,
chr2	137609715	137609715	G	A	intergenic	CXCR4,THSD7B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	WHIM syndrome,Autism spectrum disorder	ICGC,
chr16	2081958	2081958	T	G	intronic	SLC9A3R2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	homeostasis/metabolism phenotype	-	ICGC,
chr9	118119423	118119423	C	T	intronic	DEC1	unknown	SNV	-	-	-	0.3469	rs10982706	-	0.256789	-	0.399	-	-	SKCA-BR|1|100|0.01000	-	-	-	Squamous cell carcinoma of the head and neck, reduced risk, assoc	ICGC,
chr5	120208332	120208332	G	A	intergenic	PRR16,LOC102467226	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr11	38926590	38926590	G	T	intergenic	LOC101928536,LRRC4C	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20312517	-	PAEN-AU|1|52|0.01923	-	-	-,-	-,-	COSMIC,ICGC,
chr15	25927090	25927090	A	G	intronic	ATP10A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	Angelman syndrome	ICGC,
chr1	156641616	156641616	C	G	exonic	NES	synonymous	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	-	ICGC,
chr7	35497106	35497106	C	A	intergenic	LOC401324,HERPUD2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7978986	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	COSMIC,ICGC,
chr6	67817061	67817061	A	T	intergenic	SLC25A51P1,BAI3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr1	176993229	176993229	T	C	intronic	ASTN1	unknown	SNV	-	-	-	0.3532	rs2861883	-	0.240415	-	0.442	-	-	ESAD-UK|1|301|0.00332	-	-	behavior/neurological phenotype	-	ICGC,
chr4	34324842	34324842	G	A	intergenic	NONE,ARAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr9	81585508	81585508	C	T	intergenic	PSAT1,LOC101927450	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,-	Schizophrenia |Phosphoserine aminotransferase deficiency,-	ICGC,
chr4	126795523	126795523	T	G	intergenic	MIR2054,INTU	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN14971391	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,Anorectal malformation	COSMIC,ICGC,
chr12	13080230	13080230	G	A	intergenic	MIR614,GPRC5D	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr1	153155809	153155809	C	A	ncRNA_intronic	LOC101928009	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr10	74666356	74666356	G	A	exonic	OIT3	nonsynonymous	SNV	0.163	0.958	-	-	-	-	-	-	-	COSM4896789	SKCM|1|368|0.00272	SKCM-US|1|335|0.00299	-	-	homeostasis/metabolism phenotype	-	COSMIC,TCGA,ICGC,
chr6	49317228	49317228	G	A	intergenic	PTCHD4,MUT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Methylmalonic aciduria	ICGC,
chr18	50446683	50446683	T	C	intronic	DCC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging	Altered p53 transactivation|Colorectal cancer, risk, association with |Mirror movements, congenital	ICGC,
chr8	80522759	80522759	C	T	upstream	STMN2	unknown	SNV	-	-	-	3.228e-05	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	-	ICGC,
chr18	36657627	36657627	C	T	intergenic	MIR4318,LINC00669	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr14	92548338	92548338	C	T	intronic	ATXN3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1666354	-	ESAD-UK|1|301|0.00332,LIRI-JP|1|258|0.00388	-	-	behavior/neurological phenotype	Machado-Joseph disease|Parkinsonism, in Machado-Joseph disease|Reduced BMI, association with.|Spinocerebellar ataxia.	COSMIC,ICGC,
chrX	93708084	93708084	A	T	intergenic	FAM133A,LOC643486	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2370189	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr14	48776992	48776992	A	C	intergenic	LINC00648,RPS29	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr11	30168188	30168188	T	C	intergenic	KCNA4,FSHB	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1528385	-	LIRI-JP|1|258|0.00388	-	-	behavior/neurological phenotype,reproductive system phenotype	-,Altered gonadotropin secretion, association with|Follicle-stimulating hormone deficiency|Reduced reproductive potential, association with|Reduced serum FSH	COSMIC,ICGC,
chr3	186607612	186607612	T	C	intergenic	ADIPOQ,ST6GAL1	unknown	SNV	-	-	-	0.0002	rs866047524	-	-	-	-	-	-	PBCA-DE|1|499|0.00200,MELA-AU|1|183|0.00546	-	-	integument phenotype,hematopoietic system phenotype	Ischemic stroke, increased risk|Ischemic stroke, increased risk in females|Low serum adiponectin level, association with|Lower insulin levels, association with|Metabolic syndrome|Metabolic syndrome in diabetes, association with|Myocardial infarction|Nonalcoholic fatty liver disease, association with|Obesity, association with|Obesity, association with.|Obesity, early-onset & metabolic syndrome|Oxidative stress in diabetes|Reduced cord blood adiponectin concentration, association with|Reduced long-chain w3-polyunsaturated fatty acids in serum phospholipids, association with|Serum cholesterol|Triglyceride levels and waist circumference, association with|Insulin resistance, association with|Insulin resistance|Hypertension, association with|Adiponectin deficiency|Adiponectin level, association with|Adiponectin levels in obese patients|Adiponectin levels, association with.|Body mass index and blood pressure, association with|Cardiovascular disease in type 2 diabetes, association with|Chronic kidney disease, in children, association with.|Coronary artery disease, premature, in males, association with.|Coronary heart disease in type 1 diabetes, association with|Diabetes mellitus, type 2, association with|Diabetes, type 2  |Diabetes, type 2, association with |Diabetes, type 2, in obese individuals, association with|Diabetic nephropathy, association with|Higher adiponectin concentrations|Higher fasting insulin levels, association with,-	ICGC,
chrX	77650955	77650955	C	T	intergenic	CYSLTR1,ZCCHC5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	respiratory system phenotype,-	Asthma, association with|Atopy, association with|Decreased expression,-	ICGC,
chr3	7488369	7488369	A	T	intronic	GRM7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	mortality/aging	Schizophrenia, association with  |Autism |Attention deficit hyperactivity disorder	ICGC,
chr11	60256167	60256167	A	C	intergenic	MS4A1,MS4A12	unknown	SNV	-	-	-	0.0659	rs7935012	-	0.0994409	-	0.051	-	-	ESAD-UK|2|301|0.00664	-	-	hematopoietic system phenotype,-	CD20 deficiency,Potential protein deficiency	ICGC,
chr4	104425656	104425656	C	T	intergenic	CENPE,TACR3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26200596	-	PRAD-UK|1|140|0.00714	-	-	mortality/aging,behavior/neurological phenotype	Cancer  ,Kallmann syndrome|Hypogonadotropic hypogonadism	COSMIC,ICGC,
chr19	40879300	40879300	G	A	intronic	PLD3	unknown	SNV	-	-	-	9.73e-05	-	-	-	-	-	-	-	EOPC-DE|1|202|0.00495	-	-	-	Alzheimer disease, increased risk	ICGC,
chr12	84229109	84229109	G	T	intergenic	TMTC2,SLC6A15	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5867445	-	LIRI-JP|1|258|0.00388	-	-	-,reproductive system phenotype	-,Increased maximal 3H proline uptake	COSMIC,ICGC,
chr1	189573865	189573865	G	A	intergenic	NONE,BRINP3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr9	26046505	26046505	C	T	intergenic	LINC01241,LOC100506422	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr17	47018410	47018410	C	T	exonic	SNF8	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM6489805	-	-	-	-	mortality/aging	-	COSMIC,
chr2	226606343	226606343	T	G	intergenic	NYAP2,MIR548AR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	ICGC,
chr19	52055763	52055763	A	C	intergenic	SIGLEC6,ZNF175	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1770842	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr4	59721579	59721579	C	G	intergenic	IGFBP7-AS1,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16425068	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr12	57049945	57049945	G	A	intergenic	ATP5B,PTGES3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,-	ICGC,
chr8	99086507	99086507	G	A	intronic	ERICH5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr1	176586951	176586951	G	A	intronic	PAPPA2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	hematopoietic system phenotype	-	ICGC,
chr8	53377496	53377496	G	A	intergenic	ST18,FAM150A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	homeostasis/metabolism phenotype,-	-,-	ICGC,
chr14	46146850	46146850	G	A	intergenic	MIS18BP1,LINC00871	unknown	SNV	-	-	-	0.0050	rs78994707	-	0.0175719	-	-	COSN23456320	-	EOPC-DE|1|202|0.00495	-	-	-,-	-,-	COSMIC,ICGC,
chr2	5567503	5567503	C	T	intergenic	LINC01249,LINC01248	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	-,-	ICGC,
chr11	134544897	134544897	G	A	intergenic	LOC283177,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr3	126671154	126671154	G	A	intronic	CHCHD6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-	-	ICGC,
chr12	126128660	126128660	G	A	exonic	TMEM132B	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM3457917	SKCM|1|368|0.00272	SKCM-US|1|335|0.00299	-	-	-	-	COSMIC,TCGA,ICGC,
chr21	22952301	22952301	C	G	intergenic	NCAM2,LINC00317	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1885660	-	LIRI-JP|1|258|0.00388	-	-	taste/olfaction phenotype,-	-,-	COSMIC,ICGC,
chr8	111346867	111346867	T	G	intergenic	KCNV1,CSMD3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	behavior/neurological phenotype,-	-,Schizophrenia  |Colorectal cancer 	ICGC,
chr17	21349753	21349753	C	T	intergenic	KCNJ12,C17orf51	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	hematopoietic system phenotype,-	-,-	ICGC,
chr3	132313457	132313457	C	T	ncRNA_intronic	NPHP3-ACAD11	unknown	SNV	-	-	-	-	rs754658509	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr14	56543981	56543981	-	AAGAGA	intergenic	LINC00520,PELI2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr17	30418978	30418978	A	G	intergenic	LRRC37B,RHOT1	unknown	SNV	-	-	-	0.0717	rs367811653	-	-	-	0.065	COSN8602921	-	LICA-CN|1|402|0.00249,SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,-	COSMIC,ICGC,
chr8	83838052	83838052	G	T	intergenic	SNX16,LINC01419	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr7	117917297	117917297	A	T	intergenic	ANKRD7,KCND2	unknown	SNV	-	-	-	0.5324	rs41922	-	0.6252	-	0.551	-	-	ESAD-UK|2|301|0.00664,MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Epilepsy, temporal lobe	ICGC,
chr12	79801283	79801283	T	C	intronic	SYT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	-	ICGC,
chr20	10940869	10940869	C	T	intergenic	LOC101929413,LOC339593	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	126860614	126860614	T	C	splicing	PRRC1	splicing	SNV	-	-	-	-	rs773117730	0	-	-	-	-	-	GACA-JP|1|585|0.00171	-	-	-	-	ICGC,
chr3	87070743	87070743	C	T	intergenic	VGLL3,LINC00506	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	76973943	76973943	T	G	intronic	ST6GALNAC3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr3	169731119	169731119	C	T	intergenic	SEC62,GPR160	unknown	SNV	-	-	-	0.0065	rs115535052	-	0.00219649	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr11	84788295	84788295	T	C	intronic	DLG2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17659595	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype	Schizophrenia and epilepsy|Myopathy  |Intellectual disability, autism and epilepsy|Hypochondriasis|Dysmorphic features & speech delay|Developmental delay and dysmorphic features|Developmental delay  	COSMIC,ICGC,
chr14	101667992	101667992	C	T	intergenic	MEG9,DIO3OS	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr11	66070613	66070613	A	G	intergenic	TMEM151A,CD248	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,immune system phenotype	-,-	ICGC,
chr3	95551776	95551776	A	C	intergenic	MTHFD2P1,MIR8060	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23268643	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	COSMIC,ICGC,
chr5	146070719	146070719	C	T	exonic	PPP2R2B	nonsynonymous	SNV	0.049	0.4	1.219e-05	-	rs749756339	1.65e-05	-	-	-	COSM5800055	-	BRCA-EU|1|569|0.00176	-	-	-	Alzheimer disease, association with |Spinocerebellar ataxia 12	COSMIC,COSMIC,COSMIC,COSMIC,COSMIC,ICGC,
chr1	145705479	145705479	G	T	intronic	CD160,NBPF10,NBPF20	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-,-	-,-,-	ICGC,
chr15	24425553	24425553	A	T	intergenic	PWRN2,PWRN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr18	63516255	63516255	T	C	intronic	CDH7	unknown	SNV	-	-	-	0.1893	rs72944064	-	0.125799	-	0.188	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr17	71690576	71690576	G	A	intergenic	SDK2,LOC100134391	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr12	47302548	47302548	G	A	intergenic	SLC38A4,AMIGO2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr16	61501706	61501706	G	A	intergenic	LOC729159,CDH8	unknown	SNV	-	-	-	-	rs555864784	-	0.000199681	-	0.007	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Learning disability  |Autism & learning disability 	ICGC,
chr1	75082234	75082234	A	T	ncRNA_intronic	ERICH3-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20655933	-	BRCA-UK|1|141|0.00709,BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,COSMIC,ICGC,
chrX	94561129	94561129	G	A	intergenic	FAM133A,LOC643486	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr3	19719147	19719147	T	G	intergenic	KCNH8,EFHB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr2	180812064	180812064	C	A	intronic	CWC22	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr7	15638097	15638097	A	C	intergenic	AGMO,MEOX2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	-,Alzheimer disease, early-onset 	ICGC,
chr18	39394725	39394725	C	T	intergenic	KC6,PIK3C3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,Intellectual disability  |Bipolar disorder/schizophrenia association with|Anti-Ro & anti-Sm antibodies, in lupus, in African-Americans, association	ICGC,
chr16	11570237	11570237	C	T	intergenic	LOC101927131,LITAF	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,hematopoietic system phenotype	-,Charcot-Marie-Tooth disease 1c	ICGC,
chr12	86240887	86240887	C	T	intergenic	RASSF9,NTS	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype,behavior/neurological phenotype	-,-	ICGC,
chr13	68122301	68122301	A	G	intergenic	PCDH9,LINC00550	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	ICGC,
chr17	50778744	50778744	G	T	intergenic	CA10,C17orf112	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	Schizophrenia,-	ICGC,
chr15	35976141	35976141	C	T	ncRNA_intronic	DPH6-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr3	77070962	77070962	C	T	intergenic	ZNF717,ROBO2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	Potential protein deficiency,Autism spectrum disorder  |Urinary tract anomalies|Vesicoureteral reflux	ICGC,
chr14	82996675	82996675	C	T	intergenic	LOC101928559,NONE	unknown	SNV	-	-	-	-	rs760616949	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	32130476	32130477	CC	-	intronic	MEMO1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-	-	ICGC,
chr4	116492057	116492057	A	C	intergenic	NDST4,MIR1973	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23614274	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr21	17423740	17423740	G	A	intergenic	USP25,LINC00478	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype,-	-,-	ICGC,
chr15	71994451	71994451	C	T	intronic	THSD4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr4	160675502	160675502	A	G	intergenic	RAPGEF2,FSTL5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,-	-,Schizophrenia  |Rolandic epilepsy 	ICGC,
chr12	79670494	79670494	A	C	intronic	SYT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	mortality/aging	-	ICGC,
chr20	56414659	56414659	C	T	intergenic	PMEPA1,MIR4532	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr10	88426350	88426350	C	T	downstream	OPN4	unknown	SNV	-	-	-	0.2527	rs17425484	-	0.234425	-	0.167	-	-	ESAD-UK|2|301|0.00664	-	-	vision/eye phenotype	Seasonal affective disorder, association with|Pupillary light response, association with	ICGC,
chr4	149968363	149968363	T	G	intergenic	NR3C2,DCLK2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9218236	-	OV-AU|1|93|0.01075	-	-	mortality/aging,mortality/aging	Myocardial infarction, increased risk, association with|Neonatal stress, association with|Pseudohypoaldosteronism 1|Pseudohypoaldosteronism type 1, autosomal dominant|Reduced expression|Reduced expression, association with|Increased BMI and LDL-cholesterol, association with|Increased blood pressure, association with|Increased amygdala reactivity, with prior childhood emotional neglect, association with.|Autism |Blood pressure variation in response to potassium, association with|Cortisol awakening response in women, association with|Fibromyalgia|Higher ADHD symptom dimensions, association with|Hypertension, early onset exacerbated in pregnancy,-	COSMIC,ICGC,
chr3	38124665	38124665	-	A	intronic	DLEC1	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN14721978	-	-	-	-	-	-	COSMIC,
chr6	50001111	50001111	G	A	intergenic	DEFB110,DEFB112	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	EOPC-DE|1|202|0.00495	-	-	-,-	-,-	ICGC,
chr6	170279469	170279469	T	G	intergenic	LINC00574,LOC154449	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr19	50906777	50906777	G	C	exonic	POLD1	nonsynonymous	SNV	0.0	1.0	-	-	-	-	-	-	-	-	HNSC|1|512|0.00195	-	-	-	integument phenotype	Altered level of single strand breaks|Colorectal adenoma/carcinoma|Mandibular hypoplasia, deafness and progeroid features	TCGA,
chr3	128184056	128184056	G	A	ncRNA_intronic	DNAJB8-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-	-	ICGC,
chr11	117920019	117920019	G	A	ncRNA_intronic	TMPRSS4-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr3	80669342	80669342	A	-	intergenic	ROBO1,GBE1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	PACA-AU|1|391|0.00256	-	-	mortality/aging,mortality/aging	Developmental dyslexia ,Potential protein deficiency|Polyglucosan body disease, relapsing-remitting form|Polyglucosan body disease, adult|Lethal multiple pterygium syndrome|Glycogen storage disease 4, non-lethal neuromuscular|Glycogen storage disease 4, neonatal|Glycogen storage disease 4|Autism spectrum disorder|Adult polyglucosan body disease	ICGC,
chr9	120508403	120508403	C	A	intergenic	TLR4,BRINP1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8120427	-	PACA-AU|1|391|0.00256	-	-	integument phenotype,-	Phenotypic variation in haemochromatosis, association with|Periodontitis, association with|Pancreatic necrotic infection, association with|Negative association with FMF|Nasopharyngeal cancer, increased risk, association with|Moraxella catarrhalis infection, increased risk, association with|Metabolic syndrome, association with|Meningococcal disease susceptibility|Meningococcal disease mortality|Lung function, association with|Lower left ventricular mass, in hypertensive women, association|Increased risk of cirrhosis in chronic hepatitis C ?|Increased liver and body fat, association with|Potential protein deficiency|Preterm birth and premature rupture of membranes, association with|Tuberculosis susceptibility, in HIV-infected patients, association|Serious infection, in HIV-1 patients, association with|Retinitis pigmentosa |Reduced LPS-induced IL-12 secretion, association with|Reduced expression|Pulmonary tuberculosis, susceptibility and severity, association|Pulmonary tuberculosis, severity, association with|Protection from urinary tract infection, association with|Protection against being overweight|Prostate cancer, increased risk|Prostate cancer risk, association with|Primary open-angle, normal-tension, and exfoliation glaucoma, association with.|Typhoid infection, increased risk, association with|Increased IL-4 secretion response to measles vaccination, association|Cutaneous leishmaniasis, association with|Crohn's disease, association with|Colorectal cancer, association with.|Colorectal cancer risk, association with|Cervical cancer, early stage, association with|Cancer, increased risk, association with|Bronchopulmonary Dysplasia, infant, association with|Breast cancer, association with.|Behcet disease, protection against, association with|Altered monocyte receptor levels|Acute pyelonephritis, reduced risk in adults, association with|Acute pyelonephritis, in children, association with|Diabetes, type 2, protection against, association with|Digestive system cancer, increased risk & prostate cancer, protection against, association with|Emphysema, association with|Increased expression|Helicobacter pylori-related gastric atrophy, association with|HBV recurrence after liver transplantation, association with|Guillain-Barré syndrome, association with|Guillain-Barré syndrome, AMAN sub-type, association with|Gastritis, association with|Gastric carcinoma, association with|Endometriosis, association with|Endotoxin hyporesponsiveness, association with|Extra-intestinal manifestations in Crohn's disease, association with.|Gastric adenocarcinoma, association with|Gastric cancer, association with,-	COSMIC,ICGC,
chr2	140182131	140182131	C	T	intergenic	YY1P2,LRP1B	unknown	SNV	-	-	-	6.461e-05	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,mortality/aging	-,Schizophrenia   	ICGC,
chr11	873810	873810	G	A	intronic	CHID1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr19	30896587	30896587	C	T	intronic	ZNF536	unknown	SNV	-	-	-	0.0002	-	-	-	-	-	COSN20888258	-	BRCA-EU|1|569|0.00176,PBCA-US|1|186|0.00538	-	-	-	Schizophrenia	COSMIC,ICGC,
chr17	58239907	58239907	T	A	intergenic	CA4,USP32	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26575360	-	LICA-CN|1|402|0.00249	-	-	mortality/aging,-	Retinitis pigmentosa|Retinitis pigmentosa, autosomal dominant|Rod and cone photoreceptor degeneration,-	COSMIC,ICGC,
chr3	2606737	2606737	T	C	intronic	CNTN4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	nervous system phenotype	Spinocerebellar ataxia 16 |Features of 3p deletion syndrome|Autism spectrum disorder |Autism	ICGC,
chr20	44322016	44322016	G	T	intronic	WFDC10B	unknown	SNV	-	-	-	0.1860	rs6065865	-	0.225439	-	-	-	-	ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488	-	-	-	-	ICGC,
chr5	94362895	94362895	T	G	intronic	MCTP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr12	33914887	33914887	A	C	intergenic	SYT10,ALG10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	behavior/neurological phenotype,-	-,-	ICGC,
chr10	64909182	64909182	C	T	intronic	NRBF2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr8	84315901	84315901	G	A	upstream	LINC01419	unknown	SNV	-	-	-	3.234e-05	-	-	-	-	-	COSN24849041	-	PBCA-DE|1|499|0.00200	-	-	-	-	COSMIC,ICGC,
chr8	26053038	26053038	A	C	intergenic	EBF2,PPP2R2A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9260129	-	RECA-EU|1|422|0.00237	-	-	mortality/aging,-	-,-	COSMIC,ICGC,
chr7	36761358	36761358	C	T	intronic	AOAH	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	immune system phenotype	Colorectal cancer, increased risk, association with	ICGC,
chr5	60151326	60151326	G	A	intergenic	ELOVL7,ERCC8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,integument phenotype	-,Cockayne syndrome	ICGC,
chr13	45768191	45768191	C	T	exonic	KCTD4	nonsynonymous	SNV	0.002	0.997	8.143e-06	-	-	-	-	-	-	-	-	GACA-JP|1|585|0.00171	-	-	-	-	ICGC,
chr12	100383171	100383171	G	T	intergenic	ANKS1B,UHRF1BP1L	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20974208	-	BRCA-EU|1|569|0.00176	-	-	-,-	Sertoli-cell-only syndrome|Schizophrenia  ,-	COSMIC,ICGC,
chr3	62719753	62719753	G	A	intronic	CADPS	unknown	SNV	-	-	-	3.232e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	-	ICGC,
chr1	241978280	241978280	G	A	intergenic	WDR64,EXO1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	Schizophrenia,Lung cancer susceptibility, association with|Life expectancy in centenarians, association with|Hepatocellular carcinoma, association with.|Glioblastoma multiforme, association with|Colorectal cancer, reduced risk, association with|Colorectal cancer, non-polyposis|Colorectal cancer, increased risk, association with|Cancer risk, in Asians, association with	ICGC,
chr7	109997838	109997838	C	T	intergenic	EIF3IP1,IMMP2L	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,reproductive system phenotype	-,Gilles de la Tourette syndrome|Autism	ICGC,
chr1	71817308	71817308	C	T	intergenic	ZRANB2-AS2,NEGR1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,behavior/neurological phenotype	-,Obesity, association with|Dyslexia |Body mass index, association with|Attention deficit hyperactivity disorder	ICGC,
chr4	101529366	101529366	A	G	intergenic	EMCN,LINC01216	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1284255	-	LINC-JP|1|394|0.00254	-	-	-,-	-,-	COSMIC,ICGC,
chr3	164161838	164161838	G	A	intergenic	LINC01192,SI	unknown	SNV	-	-	-	0.0002	rs775751761	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,Sucrase isomaltase deficiency	ICGC,
chrX	97704266	97704266	C	T	intergenic	DIAPH2,XRCC6P5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	cardiovascular system phenotype,-	Premature ovarian failure,-	ICGC,
chr8	47627463	47627463	G	A	intergenic	NONE,LINC00293	unknown	SNV	-	-	-	3.234e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	115363155	115363155	G	A	intergenic	ARSJ,UGT8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Musical ability, association with	ICGC,
chr4	104467082	104467082	C	G	intergenic	CENPE,TACR3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,behavior/neurological phenotype	Cancer  ,Kallmann syndrome|Hypogonadotropic hypogonadism	ICGC,
chr12	55119738	55119738	-	CACA	intergenic	DCD,MUCL1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|3|67|0.04478	-	-	-,-	-,-	ICGC,
chr13	98650253	98650253	G	A	intronic	IPO5	unknown	SNV	-	-	-	6.46e-05	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr12	50753899	50753899	T	C	intronic	FAM186A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr10	75521186	75521186	G	A	intronic	SEC24C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-	-	ICGC,
chr3	114487210	114487210	T	G	intronic	ZBTB20	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9230993	-	OV-AU|1|93|0.01075	-	-	mortality/aging	Autism spectrum disorder|Hypotonia and language and motor delays	COSMIC,ICGC,
chrX	75920977	75920977	G	A	ncRNA_intronic	LOC101928469	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr13	55106476	55106476	G	A	intergenic	MIR1297,MIR5007	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr13	24557836	24557836	C	A	intronic	SPATA13	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	RECA-EU|1|422|0.00237	-	-	-	Autism	ICGC,
chr11	41940105	41940105	T	G	intergenic	LOC102723644,LOC100507205	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24264741	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	-,-	-,-	COSMIC,COSMIC,ICGC,
chr8	42606367	42606367	C	T	intergenic	CHRNB3,CHRNA6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	behavior/neurological phenotype,nervous system phenotype	Schizophrenia and epilepsy|Potential protein deficiency|Autism spectrum disorder|Alcohol and cocaine dependence, association with,-	ICGC,
chr9	38644339	38644339	G	A	intergenic	FAM201A,CNTNAP3	unknown	SNV	-	-	-	3.228e-05	rs558418239	-	0.000399361	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chrX	12836664	12836664	G	C	intronic	PRPS2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24001474	-	BRCA-FR|1|72|0.01389	-	-	-	-	COSMIC,ICGC,
chr13	29416069	29416069	G	A	intergenic	SLC46A3,MTUS2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr11	71712851	71712851	C	T	exonic	IL18BP	nonsynonymous	SNV	0.472	0.035	4.071e-06	-	-	-	-	-	-	COSM5839532	-	-	-	-	-	-	COSMIC,COSMIC,
chr2	56175525	56175525	T	C	intergenic	EFEMP1,MIR217	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	integument phenotype,-	Malattia leventinese,-	ICGC,
chr1	102722957	102722957	T	G	intergenic	OLFM3,COL11A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,Stickler syndrome, type 2|Stickler syndrome|Robin sequence |Osteoarthritis, early-onset|Marshall syndrome|Marshall / Stickler syndrome|Lumbar disc herniation, association with|Fibrochondrogenesis|Deafness  	ICGC,
chr6	122144071	122144071	A	-	intergenic	GJA1,HSF2	unknown	deletion	-	-	-	6.51e-05	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	integument phenotype,mortality/aging	Sudden infant death syndrome |Oculodentodigital dysplasia with primary lymphoedema|Oculodentodigital dysplasia|Neurologic dysfunction|Heart malformations|Hallerman-Streiff/ODDD syndrome|Ectodermal & oculodentodigital dysplasia with skin hyperkeratosis|Attenuated phenotype in glaucoma |Cleft lip in oculodentodigital dysplasia.|Craniometaphyseal dysplasia|Deafness|Deafness, autosomal recessive,Idiopathic azoospermia	ICGC,
chr9	8492832	8492832	C	T	intronic	PTPRD	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26644706	-	LICA-CN|1|402|0.00249	-	-	integument phenotype	Restless legs syndrome, association with|Ewing sarcoma	COSMIC,ICGC,
chrX	70810745	70810745	C	A	ncRNA_intronic	BCYRN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	-	-	ICGC,
chr8	65643984	65643984	T	A	intronic	CYP7B1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype	Spastic paraplegia 5a.|Spastic paraplegia 5a|Spastic paraplegia 5 with sensory ataxia|Spastic paraplegia 5|Spastic paraplegia|Increased transcriptional activity|HIV 1 infection, reduced risk, association with|Cholestasis, severe	ICGC,
chrX	143584149	143584149	A	G	intergenic	UBE2NL,SPANXN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Potential protein deficiency,-	ICGC,
chr3	189074198	189074198	A	G	intergenic	TPRG1,TP63	unknown	SNV	-	-	-	3.263e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,EECUT plus syndrome|Limb-mammary syndrome|Lung adenocarcinoma, susceptibility to, association with|Rapp-Hodgkin syndrome|Rapp-Hodgkin/AEC/ADULT syndrome|Split hand-split foot malformation with amelogenesis imperfecta|Split-hand/split-foot and anorectal malformations.|Split-hand/split-foot malformation|EEC syndrome without clefting|EEC syndrome with linear and whorled naevoid hypermelanosis|ADULT syndrome|ADULT syndrome with cleft palate|AEC / Rapp-Hodgkin syndrome|AEC syndrome|Cleft lip, non-syndromic|Cleft palate, hypohidrosis and oligodontia|Ectrodactyly, ectodermal dysplasia, & clefting/Ectrodactyly-ectoderm. dyspl./Ectoderm. dyspl./Split hand-foot malf. type 4.|EEC syndrome	ICGC,
chr13	64271121	64271121	G	T	ncRNA_intronic	LINC00395	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr1	190803922	190803922	G	A	intergenic	LOC440704,RGS18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,no phenotypic analysis	-,Potential protein deficiency	ICGC,
chr16	34453697	34453697	T	A	intergenic	UBE2MP1,LOC283914	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	88009498	88009498	G	A	intronic	AFF1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	mortality/aging	-	ICGC,
chr5	169127959	169127959	-	AAAA	intronic	DOCK2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	mortality/aging	-	ICGC,
chrX	122506512	122506512	C	T	intronic	GRIA3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype	Mental retardation, X-linked|Intellectual disability, X-linked with facial dysmorphism|Intellectual disability, X-linked|Autism spectrum disorder	ICGC,
chr5	21123379	21123379	C	T	intergenic	CDH18,GUSBP1	unknown	SNV	-	-	-	3.231e-05	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-,-	Anorectal malformation,-	ICGC,
chr3	13286307	13286307	A	-	intergenic	IQSEC1,NUP210	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	nervous system phenotype,-	-,Schizophrenia	ICGC,
chr7	37697394	37697394	-	T	intergenic	ELMO1,GPR141	unknown	insertion	-	-	-	0.0002	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	reproductive system phenotype,-	-,-	ICGC,
chr12	2306084	2306084	G	T	intronic	CACNA1C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	integument phenotype	Timothy syndrome|Schizophrenia / bipolar disorder, assoc with |Schizophrenia  |Long QT syndrome.|Long QT syndrome|Early repolarization syndrome|Cardiomyopathy, hypertrophic.|Cardiomyopathy, hypertrophic|Cardiac arrhythmia|Brugada syndrome (shorter-than-normal QT interval)|Autism spectrum disorder	ICGC,
chr2	165981188	165981188	A	G	intronic	SCN3A	unknown	SNV	-	-	-	0.0002	-	-	-	-	-	COSN25324268	-	MALY-DE|1|241|0.00415	-	-	mortality/aging	Autism spectrum disorder|Epilepsy, cryptogenic pediatric partial|Epilepsy, focal  	COSMIC,ICGC,
chr4	97631998	97631998	T	A	intergenic	PDHA2,STPG2-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25605942	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	COSMIC,ICGC,
chr8	31453487	31453487	T	A	intergenic	WRN,NRG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,integument phenotype	Werner syndrome|Thromboembolic disease, association with|Schizophrenia|Sarcomas, association with|Reduced enzyme activity|Partial lipodystrophy with insulin resistance & adult progeria Werner syndrome|Non-hodgkin lymphoma, association with|Lung cancer|Coronary stenosis, reduced risk, association with|Breast cancer, association with|Breast cancer risk in radiographers, association with,Sudden cardiac death, association with|Schizophrenia, association with  |Schizophrenia in African Americans, association with|Prepulse inhibition, association with|Perceptual aberration of schizotypal personality, association with|Increased lateral ventricle volume in schizophrenia|Hirschsprung disease|Developmental delay, hypotonia & microcephaly|Alzheimers disease, association with	ICGC,
chr11	96665216	96665216	G	C	intergenic	JRKL-AS1,MIR7976	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24876108	-	PBCA-DE|1|499|0.00200	-	-	-,-	-,-	COSMIC,ICGC,
chr4	120496670	120496670	G	A	intronic	PDE5A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chrX	9142226	9142226	G	A	intergenic	FAM9B,TBL1X	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,-	-,Sensorineural deafness, late onset, X-linked	ICGC,
chr19	27911412	27911412	A	C	intergenic	NONE,LINC00662	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr15	47172729	47172729	T	C	intergenic	SQRDL,SEMA6D	unknown	SNV	-	-	-	0.4419	rs28576673	-	0.554712	-	0.406	-	-	ESAD-UK|1|301|0.00332	-	-	-,immune system phenotype	-,Developmental language disorder 	ICGC,
chrX	92657210	92657210	G	A	intergenic	PCDH11X,NAP1L3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-AU|1|391|0.00256	-	-	-,-	Absent speech, intellectual disability & behavioural problems|Attention deficit hyperactivity disorder & obsessive compulsive disorder|Developmental dyslexia |Language delay, nonsyndromic ,-	ICGC,
chr19	32038937	32038937	-	AATCCATCCATC	intergenic	TSHZ3,THEG5	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|3|67|0.04478	-	-	integument phenotype,-	-,-	ICGC,
chr13	71658839	71658839	T	A	ncRNA_intronic	LINC00348	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	-	ICGC,
chr4	157067658	157067658	G	A	intergenic	CTSO,PDGFC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Ovarian cancer, poor survival, association with|Cleft lip with or without cleft palate, association|Bilateral cleft lip & thumb polydactyly	ICGC,
chr13	72172494	72172494	C	T	intronic	DACH1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Renal hypodysplasia	ICGC,
chrX	62483981	62483981	T	C	intergenic	NONE,SPIN4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9092687	-	OV-AU|1|93|0.01075	-	-	-,-	-,-	COSMIC,ICGC,
chr7	146319373	146319373	-	CTAT	intronic	CNTNAP2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	integument phenotype	Gilles de la Tourette syndrome|Intellectual disability  |Learning disability & speech problems|Mental retardation |Mental retardation, Pitt-Hopkins-like|Multiple congenital anomalies  |Seizures, neonatal |Speech delay  |Stuttering |Epileptic encephalopathy  |Epilepsy and schizophrenia|Autism|Autism spectrum disorder |Autism spectrum disorder, modifier of|Childhood apraxia of speech|Cortical dysplasia-focal epilepsy syndrome|Developmental and/or speech and/or behavioural problems|Developmental delay  |Developmental delay & dysmorphic features|Dyslexia 	ICGC,
chr17	25293397	25293397	G	A	intergenic	NONE,MIR4522	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	166069650	166069650	T	C	intronic	FAM78B	unknown	SNV	-	-	-	0.1659	rs6664520	-	0.203674	-	0.159	-	-	ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488	-	-	-	-	ICGC,
chrX	22879396	22879396	T	A	ncRNA_intronic	PTCHD1-AS	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	-	ICGC,
chr6	27429082	27429082	G	A	intronic	ZNF184	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr5	23979308	23979308	C	T	intergenic	PRDM9,CDH10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	reproductive system phenotype,-	Altered meiotic recombination hotspot usage|Azoospermia by meiotic arrest, association with |Azoospermia, non-obstructive ,-	ICGC,
chr18	27952982	27952982	T	A	intergenic	MIR302F,DSC3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15832050	-	LIRI-JP|1|258|0.00388	-	-	-,integument phenotype	-,Hypotrichosis & recurrent skin vesicles	COSMIC,ICGC,
chr8	20719048	20719048	G	A	intergenic	LZTS1-AS1,LOC286114	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr2	104867993	104867993	C	T	intergenic	TMEM182,LOC100287010	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr12	40821225	40821225	C	T	exonic	MUC19	unknown	SNV	-	-	6.965e-06	-	-	-	-	-	-	-	SARC|1|247|0.00405	-	-	-	-	-	TCGA,
chrX	51521691	51521691	G	A	intergenic	GSPT2,MAGED1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	Intellectual disability, X-linked,-	ICGC,
chr2	74086824	74086824	-	A	intronic	STAMBP	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Microcephaly-capillary malformation syndrome	ICGC,
chr3	197710938	197710938	G	T	intronic	LMLN	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr7	42812564	42812564	G	A	intergenic	LINC01448,C7orf25	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	46049371	46049371	C	A	intronic	GABRG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-	-	ICGC,
chr20	54450826	54450826	G	T	intergenic	LINC01441,CBLN4	unknown	SNV	-	-	-	0.2741	rs59471244	-	0.248802	-	0.196	-	-	ESAD-UK|2|301|0.00664,LAML-KR|1|205|0.00488	-	-	-,normal phenotype	-,-	ICGC,
chr1	2147622	2147622	G	A	intergenic	C1orf86,SKI	unknown	SNV	-	-	-	-	rs550428952	-	0.000199681	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,mortality/aging	-,Shprintzen-Goldberg syndrome with aortic aneurysm|Shprintzen-Goldberg syndrome|Limb malformation, congenital heart disease & epilepsy|Cleft lip 	ICGC,
chrX	12642651	12642651	G	T	intronic	FRMPD4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	integument phenotype	Mental retardation, X-linked	ICGC,
chr2	177300022	177300022	T	A	intergenic	MTX2,MIR1246	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr15	24164602	24164602	G	A	intergenic	NDN,PWRN2	unknown	SNV	-	-	-	6.463e-05	-	-	-	-	-	COSN8171082	-	PACA-CA|1|268|0.00373,NKTL-SG|1|50|0.02000,BRCA-FR|1|72|0.01389	-	-	integument phenotype,-	-,-	COSMIC,COSMIC,COSMIC,ICGC,
chr19	38993383	38993383	C	T	intronic	RYR1	unknown	SNV	-	-	0.0005	0.0001	rs547949606	0.0005	0.00119808	-	-	-	-	-	not_specified	-	integument phenotype	Myopathy, progressive axial with cataracts|Myopathy, congenital with cores|Myopathy, congenital (CNMDU1)|Myopathy, congenital|Myopathy, centronuclear|Muscular dystrophy, progressive axial |Muscular dystrophy, autosomal recessive / multi-minicore disease|Myopathy, RYR1-associated|Myopathy, RYR1-associated / central core disease|Myopathy, statin related|Myotonic dystrophy, type 1|Nemaline myopathy |Ophthalmoplegia|Ophthalmoplegia and malignant hyperthermia|Peripheral neuropathy  |Potential protein deficiency|Samaritan myopathy|Muscular dystrophy and arthrogryposis|Multiminicore/minicore/multicore disease|Multi-minicore disease & atypical periodic paralysis|Arthrogryposis multiplex congenita with axoglial defects|Axial myopathy, late-onset|Axial myopathy, late-onset.|Ccentral core disease|Central core disease|Central core myopathy|Core rod myopathy|Core-rod myopathy|Core/rod disease|Exertional myalgia / rhabdomyolysis|Multi-minicore disease|Malignant hyperthermia equivocal with halotane|Malignant hyperthermia & exertional rhabdomyolosis|Malignant hyperthermia|Hypotonia, lethal neonatal|Fibre type disproportion, congenital|Exertional myalgia and/or rhabdomyolysis	ClinVar,
chr16	21770675	21770675	A	C	intronic	OTOA	unknown	SNV	-	-	-	0.0034	rs144872439	-	-	-	0.036	COSN24714833	-	GACA-CN|1|123|0.00813	-	-	-	Sensorineural hearing loss, nonsyndromic  |Hearing loss, non-syndromic|Deafness, autosomal recessive|Autism spectrum disorder  	COSMIC,ICGC,
chr2	89415941	89415941	C	T	intergenic	MIR4436A,NONE	unknown	SNV	-	-	-	0.0007	rs544548593	-	0.00119808	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr14	21210238	21210238	C	T	intergenic	RNASE4,EDDM3A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr4	130278571	130278571	A	G	intergenic	C4orf33,LOC101927282	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26927329	-	UTCA-FR|1|20|0.05000	-	-	-,-	-,-	COSMIC,ICGC,
chr22	22824592	22824592	A	T	intergenic	BMS1P20,ZNF280B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-UK|1|140|0.00714	-	-	-,-	-,-	ICGC,
chrX	22243678	22243678	A	G	intronic	PHEX	unknown	SNV	-	-	-	0.4535	rs2285079	-	0.387285	-	0.420	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Rickets, hypophosphataemic|Paravertebral ligament ossification, in vitamin-D resistant rickets|Hypophosphataemia 	ICGC,
chr8	137101610	137101610	C	T	intergenic	KHDRBS3,FAM135B	unknown	SNV	-	-	-	9.689e-05	-	-	-	-	-	COSN16115515	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	COSMIC,ICGC,
chr2	19424352	19424352	A	G	intergenic	NT5C1B-RDH14,MIR4757	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1230899	-	LINC-JP|1|394|0.00254	-	-	-,-	-,-	COSMIC,ICGC,
chr12	102724265	102724265	C	G	intergenic	PMCH,IGF1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5928170	-	LIRI-JP|1|258|0.00388	-	-	reproductive system phenotype,integument phenotype	-,Weight gain, association with|Short stature|Primordial dwarfism|Muscle strength in response to strength training, association with |Left ventricular mass in male athletes, association with|Insulin-like growth factor deficiency|IgF1 levels, association with|Growth retardation|Bone mineral density, association with|Cervical cancer, increased risk, association with |Colorectal cancer, non-polyposis, association with|Cranial growth ihn preterm infants, association with|Diabetes and myocardial infarction, association with	COSMIC,ICGC,
chr2	50253507	50253507	T	G	intronic	NRXN1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2502831	-	-	-	-	mortality/aging	Hypotonia|Hypotonia & encephalopathy|Increased white matter volume, association with|Intellectual disability  |Intellectual disability & attention deficit hyperactivity disorder|Intellectual disability & hearing loss|Intellectual disability & pervasive developmental disorder|Intellectual disability and autism|Intellectual disability, nonsyndromic |Intellectual disability, seizures, dysmorphisms & language delay|Growth retardation  |Epilepsy, myoclonic seizures & speech delay|Developmental disorder|Developmental disorder & attention deficit hyperactivity disorder|Developmental disorder, seizures & attention deficit hyperactivity disorder|Developmental/intellectual disability, hypotonia & dysmorphic features|Disorder of muscle, ligament & fascia|Encephalopathy  |Epilepsy  |Epilepsy with cognitive impairment / autism spectrum disorder|Epilepsy with focal seizures|Epilepsy, generalised |Intellectual disability, seizures, language delay & hypotonia|Language delay|Learning difficulties|Respiratory distress & sepsis|Respiratory distress syndrome|Schizophrenia |Schizophrenia, childhood onset |Schizophrenia, disorganised type|Seizures, generalized tonic-clonic & attention deficit hyperactivity disorder|Sensory integration disorder & attention deficit hyperactivity disorder|Speech delay & social communication difficulties|Tourette syndrome|Pervasive developmental disorder / hypotonia|Pervasive developmental disorder|Pervasive developmental delay / mental retardation, lack of coordination & hearing loss|Learning difficulties, ADHD & autism|Mental retardation|Mental retardation, autism, vertebral malformations|Mental retardation, Pitt-Hopkins-like|Microcephaly & mental retardation|Multiple congenital anomalies  |Multiple disabilities|Myoclonic epilepsy   |Neurodevelopmental disorder  |Vertebral anomalies|Developmental delay, speech delay & social communication difficulties|Attention deficit hyperactivity disorder |Autism spectrum disorder, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability & language delay|Autism spectrum disorder, intellectual disability, dysmorphisms, developmental delay & language delay|Autism spectrum disorder, intellectual disability, seizures & developmental delay|Autism spectrum disorder, intellectual disability, seizures, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability, seizures, dysmorphisms & language delay|Autism spectrum disorder, seizures, developmental delay & language delay|Autism, intellectual disability & attention deficit hyperactivity disorder|Autistic disorder|Autism spectrum disorder with developmental & speech delay|Autism spectrum disorder & seizures|Autism spectrum disorder & language delay|Autism |Autism & learning difficulties|Autism & mental retardation|Autism & seizures|Autism spectrum disorder|Autism spectrum disorder & attention deficit hyperactivity disorder|Autism spectrum disorder & developmental delay|Autism spectrum disorder & dysmorphic features|Autism spectrum disorder & intellectual disability|Behavioural problems|Congenital heart defect  |Craniofacial dysmorphism|Developmental delay & speech/motor delay|Developmental delay with early-onset epilepsy|Developmental delay, dysmorphic features & short stature|Developmental delay, epilepsy, autism|Developmental delay, language delay & hypotonia|Developmental delay, learning difficulties, ADHD|Developmental delay, microcephaly & behavioural problems|Developmental delay, pulmonic stenosis & autism spectrum disorder|Developmental delay, short stature and diaphragmatic hernia|Developmental delay, speech delay & microcephaly|Developmental delay & seizures|Developmental delay & seizure disorder|Cystic hygroma, hydrops & micrognathia|Cystic hygroma, shortened upper limbs & fetal demise|Developmental & speech delay|Developmental delay|Developmental delay / autism|Developmental delay & autism|Developmental delay & dysmorphic features|Developmental delay & epilepsy|Developmental delay & hypotonia|Developmental delay & multiple congenital anomalies	COSMIC,
chr2	161780199	161780199	G	C	intergenic	RBMS1,TANK	unknown	SNV	-	-	-	0.1813	rs13423348	-	0.167732	-	0.159	-	-	LAML-KR|2|205|0.00976	-	-	mortality/aging,mortality/aging	-,-	ICGC,
chr8	3839692	3839692	-	AAATAA	intronic	CSMD1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	Schizophrenia, association with |Hyperinsulinism|Autism|Attention deficit hyperactivity disorder 	ICGC,
chr21	46658028	46658028	C	T	intergenic	ADARB1,POFUT2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging,mortality/aging	Potential protein deficiency|Altered p53 binding,-	ICGC,
chr6	30938172	30938172	C	T	intergenic	DPCR1,MUC21	unknown	SNV	-	-	-	3.231e-05	rs551247166	-	0.000199681	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr2	140361335	140361335	A	T	intergenic	YY1P2,LRP1B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Schizophrenia   	ICGC,
chr9	26139809	26139809	G	A	intergenic	LOC100506422,CAAP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	-,-	-,-	ICGC,
chr3	130889810	130889810	G	T	intronic	NEK11	unknown	SNV	-	-	-	3.228e-05	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr2	100359701	100359701	A	G	intronic	AFF3	unknown	SNV	-	-	-	0.7302	rs3915083	-	0.764776	-	0.775	-	-	LAML-KR|1|205|0.00488	-	-	skeleton phenotype	Developmental delay  |Mesomelic dysplasia	ICGC,
chr15	34608039	34608039	G	A	intronic	SLC12A6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	integument phenotype	Peripheral neuropathy and corpus callosum agenesis|Motor & sensory neuropathy and corpus callosum agenesis|Bipolar disorder, association with |Andermann syndrome	ICGC,
chr6	107153293	107153293	C	T	intergenic	QRSL1,LOC100422737	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6588030	-	PBCA-DE|1|499|0.00200	-	-	-,-	-,-	COSMIC,ICGC,
chrX	85972324	85972324	C	T	intronic	DACH2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LAML-KR|1|205|0.00488	-	-	normal phenotype	-	ICGC,
chr7	83606262	83606262	G	A	intronic	SEMA3A	unknown	SNV	-	-	-	3.233e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Unexplained cardiac arrest, association with|Short stature & multiple congenital anomalies|Kallmann syndrome|Hirschsprung disease   |Crypt frequency in the iris, association with	ICGC,
chr4	144526661	144526661	T	C	intronic	FREM3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8945641	-	ESAD-UK|1|301|0.00332	-	-	-	Autism 	COSMIC,ICGC,
chr8	28997622	28997622	G	A	exonic	KIF13B	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM3648106	SKCM|1|368|0.00272	SKCM-US|1|335|0.00299	-	-	-	Schizophrenia	COSMIC,COSMIC,TCGA,ICGC,
chr15	52904919	52904919	C	T	intronic	FAM214A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Potential protein deficiency	ICGC,
chr7	67995874	67995874	G	A	intergenic	LOC102723427,LOC100507468	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr9	24279669	24279669	A	C	intergenic	ELAVL2,IZUMO3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17226569	-	PACA-CA|1|268|0.00373	-	-	-,-	Schizophrenia, association with  ,-	COSMIC,ICGC,
chr12	21560682	21560682	A	G	intergenic	SLCO1A2,PYROXD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	hematopoietic system phenotype,-	Impaired transport activity|Altered transport activity,-	ICGC,
chr8	78714359	78714359	T	G	intergenic	PEX2,PKIA	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20252202	-	PACA-CA|1|268|0.00373	-	-	mortality/aging,normal phenotype	Zellweger syndrome|Refsum disease, infantile|Peroxisome biogenesis disorder|Cerebellar ataxia, autosomal recessive,-	COSMIC,ICGC,
chr10	72416204	72416204	T	A	intergenic	PRF1,ADAMTS14	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,-	Haemophagocytic lymphohistiocytosis, familial |Immune-mediated neurodegeneration triggered by infection|Multiple sclerosis |NK/T-Cell Lymphoma, association with|Non-Hodgkin lymphoma  |Non-immune hydrops fetalis.|Perforin deficiency |Haemophagocytic lymphohistiocytosis|Diabetes, type 1 |Diabetes association|Anaplastic large cell lymphoma|Anaplastic large cell lymphoma, childhood.|Arthritis, juvenile|Arthritis, juvenile.|Childhood acute lymphoblastic leukemia, association with|Chronic active Epstein-Barr virus infection|Cytophagic histiocytic panniculitis ,-	ICGC,
chr7	154025447	154025447	G	A	intronic	DPP6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	nervous system phenotype	Autism spectrum disorder  |Schizophrenia  |Ventricular fibrillation, idiopathic 	ICGC,
chr5	2946364	2946364	G	A	intergenic	C5orf38,LINC01377	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr19	53948384	53948384	C	T	UTR5	ZNF761	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr13	94476821	94476821	A	G	ncRNA_intronic	GPC6-AS2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16522704	-	PACA-CA|1|268|0.00373	-	-	-	-	COSMIC,ICGC,
chr3	64589923	64589923	G	A	exonic	ADAMTS9	stopgain	SNV	-	-	-	-	-	-	-	-	-	COSM4119837	STAD|1|395|0.00253,STES|1|395|0.00253	STAD-US|1|289|0.00346	-	-	integument phenotype	-	COSMIC,TCGA,ICGC,
chr10	133024717	133024717	C	G	intronic	TCERG1L	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN10062720	-	RECA-EU|1|422|0.00237	-	-	-	-	COSMIC,ICGC,
chr3	89803713	89803713	C	T	intergenic	EPHA3,NONE	unknown	SNV	-	-	-	0.2282	rs73154916	-	0.145567	-	0.196	-	-	ESAD-UK|2|301|0.00664	-	-	mortality/aging,-	Oligozoospermia|Schizophrenia    |Sertoli-cell-only syndrome,-	ICGC,
chr8	62469874	62469874	G	A	intronic	ASPH	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging	Autism spectrum disorder|Facial dysmorphism, lens dislocation, anterior-segment abnormalities & Traboulsi syndrome	ICGC,
chr2	52540181	52540181	G	A	intergenic	NRXN1,ASB3	unknown	SNV	-	-	-	3.235e-05	-	-	-	-	-	COSN28080339	-	PRAD-CA|1|308|0.00325,PRAD-UK|1|140|0.00714	-	-	mortality/aging,-	Hypotonia|Hypotonia & encephalopathy|Increased white matter volume, association with|Intellectual disability  |Intellectual disability & attention deficit hyperactivity disorder|Intellectual disability & hearing loss|Intellectual disability & pervasive developmental disorder|Intellectual disability and autism|Intellectual disability, nonsyndromic |Intellectual disability, seizures, dysmorphisms & language delay|Growth retardation  |Epilepsy, myoclonic seizures & speech delay|Developmental disorder|Developmental disorder & attention deficit hyperactivity disorder|Developmental disorder, seizures & attention deficit hyperactivity disorder|Developmental/intellectual disability, hypotonia & dysmorphic features|Disorder of muscle, ligament & fascia|Encephalopathy  |Epilepsy  |Epilepsy with cognitive impairment / autism spectrum disorder|Epilepsy with focal seizures|Epilepsy, generalised |Intellectual disability, seizures, language delay & hypotonia|Language delay|Learning difficulties|Respiratory distress & sepsis|Respiratory distress syndrome|Schizophrenia |Schizophrenia, childhood onset |Schizophrenia, disorganised type|Seizures, generalized tonic-clonic & attention deficit hyperactivity disorder|Sensory integration disorder & attention deficit hyperactivity disorder|Speech delay & social communication difficulties|Tourette syndrome|Pervasive developmental disorder / hypotonia|Pervasive developmental disorder|Pervasive developmental delay / mental retardation, lack of coordination & hearing loss|Learning difficulties, ADHD & autism|Mental retardation|Mental retardation, autism, vertebral malformations|Mental retardation, Pitt-Hopkins-like|Microcephaly & mental retardation|Multiple congenital anomalies  |Multiple disabilities|Myoclonic epilepsy   |Neurodevelopmental disorder  |Vertebral anomalies|Developmental delay, speech delay & social communication difficulties|Attention deficit hyperactivity disorder |Autism spectrum disorder, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability & language delay|Autism spectrum disorder, intellectual disability, dysmorphisms, developmental delay & language delay|Autism spectrum disorder, intellectual disability, seizures & developmental delay|Autism spectrum disorder, intellectual disability, seizures, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability, seizures, dysmorphisms & language delay|Autism spectrum disorder, seizures, developmental delay & language delay|Autism, intellectual disability & attention deficit hyperactivity disorder|Autistic disorder|Autism spectrum disorder with developmental & speech delay|Autism spectrum disorder & seizures|Autism spectrum disorder & language delay|Autism |Autism & learning difficulties|Autism & mental retardation|Autism & seizures|Autism spectrum disorder|Autism spectrum disorder & attention deficit hyperactivity disorder|Autism spectrum disorder & developmental delay|Autism spectrum disorder & dysmorphic features|Autism spectrum disorder & intellectual disability|Behavioural problems|Congenital heart defect  |Craniofacial dysmorphism|Developmental delay & speech/motor delay|Developmental delay with early-onset epilepsy|Developmental delay, dysmorphic features & short stature|Developmental delay, epilepsy, autism|Developmental delay, language delay & hypotonia|Developmental delay, learning difficulties, ADHD|Developmental delay, microcephaly & behavioural problems|Developmental delay, pulmonic stenosis & autism spectrum disorder|Developmental delay, short stature and diaphragmatic hernia|Developmental delay, speech delay & microcephaly|Developmental delay & seizures|Developmental delay & seizure disorder|Cystic hygroma, hydrops & micrognathia|Cystic hygroma, shortened upper limbs & fetal demise|Developmental & speech delay|Developmental delay|Developmental delay / autism|Developmental delay & autism|Developmental delay & dysmorphic features|Developmental delay & epilepsy|Developmental delay & hypotonia|Developmental delay & multiple congenital anomalies,-	COSMIC,COSMIC,ICGC,
chr18	51445116	51445116	G	A	intergenic	LOC102724651,MBD2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN4774266	-	MALY-DE|1|241|0.00415	-	-	-,mortality/aging	-,-	COSMIC,ICGC,
chr2	91742176	91742176	-	G	intergenic	NONE,LOC654342	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN26374627	-	-	-	-	-,-	-,-	COSMIC,
chr4	15054067	15054067	G	A	exonic	CPEB2	nonsynonymous	SNV	0.343	0.617	-	-	-	-	-	-	-	COSM4961663	-	PACA-CA|1|268|0.00373	-	-	-	-	COSMIC,COSMIC,ICGC,
chr19	43078491	43078491	-	T	ncRNA_intronic	LIPE-AS1	unknown	insertion	-	-	-	0	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr2	80050295	80050295	C	A	intronic	CTNNA2	unknown	SNV	-	-	-	0.0695	rs13423110	-	0.0954473	-	0.101	-	-	LAML-KR|1|205|0.00488	-	-	mortality/aging	Schizophrenia	ICGC,
chr3	38689826	38689826	G	T	intronic	SCN5A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Rapid ventricular tachycardia & intraventricular conduction delay|QTc interval, association with|QRS interval, association with|Phenotype modifier, association with|Nodal rhythm|Negative shift activation|Multifocal ectopic Purkinje-related premature contractions.|LQT3, conduction disorder, dilated cardiomyopathy|Longer QT interval, association with |Long QT syndrome.|Long QT syndrome, malignant perinatal variant|Long QT syndrome, drug-associated|Long QT syndrome and idiopathic ventricular fibrillation|Long QT syndrome and dilated cardiomyopathy|Long QT syndrome and Brugada syndrome|Long QT syndrome 3.|Romano-Ward syndrome|Sick sinus syndrome   |Sick sinus syndrome, autosomal recessive |Ventricular fibrillation, idiopathic|Ventricular fibrillation in coronary artery disease|Ventricular fibrillation during acute myocardial infarction|Ventricular arrhythmia, association with|SUDEP / epilepsy|Sudden unexplained nocturnal death syndrome, association with|Sudden unexplained nocturnal death syndrome|Sudden unexplained death  |Sudden infant death syndrome, association with|Sudden infant death syndrome  |Sudden cardiac death|Sudden adult death syndrome|Slow inactivation and negative shft inactivation|Sick sinus syndrome/Brugada syndrome|Sick sinus syndrome, conduction disease and Brugada syndrome|Ventricular tachycardia  |Arrhythmia, lidocaine-induced|Cardiac conduction disease|Cardiac arrhythmia, increased risk, association|Brugada-like ST elevation.|Brugada-like ST elevation|Brugada syndrome.|Brugada syndrome, lidocaine-induced|Brugada syndrome, asymptomatic|Brugada syndrome and epilepsy|Brugada syndrome|Brugada and short QT syndrome|Atrioventricular conduction block|Atrioventricular block, idiopathic|Atrial standstill|Atrial fibrillation|Arrhythmogenic right ventricular dysplasia  |Cardiac conduction disease and long QT syndrome|Cardiac sinus node dysfunction|Cardiac sinus node dysfunction.|Long QT syndrome 3, with concealed Brugada syndrome..|Long QT syndrome 2|Long QT syndrome & atrial fibrillation|Long QT syndrome|Lone atrial fibrillation, early-onset|Lone atrial fibrillation, association with|Lenegre-Lev disease|Increase in QT dispersion, association with|Idiopathic ventricular arrhythmia.|Cardiac sodium channelopathies|Cardiomyopathy, dilated|Dilated cardiomyopathy|Early repolarization syndrome|Electrocardiographic Traits, association with|Fever-induced arrhythmia|Heart block type 1	ICGC,
chr14	64032355	64032355	G	A	intergenic	PPP2R5E,WDR89	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	ICGC,
chr20	19130221	19130221	C	G	intergenic	C20orf78,SLC24A3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5966395	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr1	164761224	164761224	G	A	intronic	PBX1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6006465	-	LIRI-JP|1|258|0.00388	-	-	integument phenotype	Schizophrenia	COSMIC,ICGC,
chr16	82429673	82429673	C	T	intergenic	MPHOSPH6,CDH13	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Higher adiponectin levels|Amyotrophic lateral sclerosis 	ICGC,
chr13	77330767	77330767	G	A	intergenic	LMO7DN,KCTD12	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23923698	-	LAML-KR|1|205|0.00488	-	-	-,-	-,-	COSMIC,ICGC,
chr9	95621002	95621002	T	C	intronic	ZNF484	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chrX	141845938	141845938	-	TT	intergenic	MAGEC2,SPANXN4	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr10	83311048	83311048	A	C	intergenic	SH2D4B,NRG3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27178886	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	-,Schizophrenia, association with |Increased ventrolateral PFC activation|Hirschsprung disease  	COSMIC,ICGC,
chr2	203620288	203620288	C	T	exonic	FAM117B	nonsynonymous	SNV	0.064	1.0	-	-	-	-	-	-	-	-	SKCM|1|368|0.00272	-	-	-	hematopoietic system phenotype	-	TCGA,
chrX	128421646	128421646	G	A	intergenic	ACTRT1,SMARCA1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27750806	-	NKTL-SG|1|50|0.02000	-	-	-,behavior/neurological phenotype	-,-	COSMIC,ICGC,
chr11	122165806	122165806	G	A	intergenic	MIR100HG,UBASH3B	unknown	SNV	-	-	-	0.0849	rs542500	-	0.114417	-	0.196	-	-	COCA-CN|1|321|0.00312,ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr2	212064336	212064336	C	G	intergenic	CPS1,ERBB4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,integument phenotype	VACTERL |Neonatal pulmonary hypertension, association with|Necrotizing enterocolitis, in preterm infants, association with|Hyperammonaemia, association with|Carbamoyl phosphate synthetase I deficiency|Altered Nitric oxide production and vascular smooth muscle reactivity|Altered glycine metabolism,Schizophrenia |Oligohydramnios|Intellectual disability, hyperactivity & speech developmental delay|Increased promoter activity|Hepatocellular carcinoma, increased risk, association with|Epileptic encephalopathy, early infantile 3|Breast and colorectal cancer, association with|Bipolar disorder, association with |Bipolar disorder |Autism spectrum disorder  |Amyotrophic lateral sclerosis type 19	ICGC,
chr3	46444405	46444405	C	T	intergenic	CCR5,CCRL2	unknown	SNV	-	-	-	0.3139	rs2187674	-	0.349441	-	0.275	-	-	ESAD-UK|2|301|0.00664,LAML-KR|1|205|0.00488	-	-	mortality/aging,immune system phenotype	Kawasaki disease, reduced risk, association with|Low translational efficiency|Myocardial infarction, association with.|Myocardial infarction, protection against, association with.|Nonanastomotic biliary strictures after liver transplantation|Nonatopic asthma, reduced risk|Preeclampsia, association with|Preeclampsia, protection against, association with|Reduced antigen specificity|Rheumatoid arthritis, association with.|Tickborne encephalitis|Juvenile rheumatoid arthritis, reduced risk, assoc|Juvenile idiopathic arthritis, protection against|Inflammation-associated mortality in ESRD, protection, association|Acute rejection in kidney transplantation, association with|Acute rejection in liver transplantation, reduced risk, association|Altered function|Attenuated synovial bacterial load, association with|Celiac disease|Early clinical manifestation, in West Nile virus infection, association|High HDL cholesterol|HIV 1, resistance to, association with|HIV, reduced mortality, association with|Increased HIV1, perinatal transmission, association|Increased plasma HDL cholesterol, decreased triglycerides, association,AIDS & pneumocystis pneumonia, association with 	ICGC,
chr3	4010570	4010570	G	A	intergenic	LRRN1,SETMAR	unknown	SNV	-	-	-	-	rs371974099	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	behavior/neurological phenotype,-	-,-	ICGC,
chr12	91227967	91227967	A	G	intergenic	LINC00936,LINC00615	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	-,-	ICGC,
chr6	67293021	67293021	-	T	intergenic	SLC25A51P1,NONE	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr18	70389280	70389280	C	T	intergenic	CBLN2,NETO1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,behavior/neurological phenotype	-,-	ICGC,
chr7	125053944	125053944	C	A	intergenic	LOC101928283,GRM8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,behavior/neurological phenotype	-,Attention deficit hyperactivity disorder|Autism spectrum disorder  	ICGC,
chr14	83982591	83982591	C	T	intergenic	LOC101928559,LINC00911	unknown	SNV	-	-	-	3.272e-05	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr14	28336438	28336438	-	GTGTAT	intergenic	LINC00645,FOXG1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,integument phenotype	-,West syndrome |Rett-like syndrome|Rett syndrome|Refractory epilepsy & intellectual impairment|Microcephaly, mental retardation & thin genu of corpus callosum|Mental retardation, speech impairment & epilepsy|Mental retardation & speech impairment|Mental retardation & postnatal microcephaly|Mental retardation & callosum abnormalities|Mental retardation|Infantile spasms|Hemifacial microsomia|Generalized dystonia, athetosis and parkinsonism|Developmental delay, microcephaly & hypoplasia of the corpus callosum|Developmental delay, hypotonia, microcephaly & infantile spasms|Developmental delay & slow head growth|Agenesis of corpus callosum	ICGC,
chr2	127243954	127243954	C	T	intergenic	CNTNAP5,GYPC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	-,-	Autism,Glycophorin C variant|Gerbich-negative blood group|Elliptocytosis|Duch blood group	ICGC,
chr4	107693334	107693334	G	A	intergenic	GIMD1,DKK2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,hematopoietic system phenotype	-,Schizophrenia, association with  	ICGC,
chr6	102485166	102485166	G	A	intronic	GRIK2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	Mental retardation, non-syndromic, autosomal recessive	ICGC,
chr1	45288276	45288276	A	T	exonic	PTCH2	synonymous	SNV	-	-	4.061e-06	-	-	-	-	-	-	COSM464672	KIPAN|1|799|0.00125,KIRC|1|451|0.00222	KIRC-US|1|408|0.00245	-	-	integument phenotype	Macrostomia|Nevoid basal cell carcinoma syndrome	COSMIC,TCGA,ICGC,
chr9	81128600	81128600	-	T	intergenic	PSAT1,LOC101927450	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PACA-AU|1|391|0.00256	-	-	mortality/aging,-	Schizophrenia |Phosphoserine aminotransferase deficiency,-	ICGC,
chr15	24445173	24445173	C	A	intergenic	PWRN2,PWRN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	ICGC,
chr12	96046973	96046973	G	A	ncRNA_intronic	PGAM1P5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr6	95567761	95567761	G	T	intergenic	TSG1,MANEA-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr11	104555164	104555164	G	A	intergenic	LOC102723895,CASP12	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Sepsis, susceptibility, association with	ICGC,
chr4	96594072	96594072	G	A	intergenic	UNC5C,PDHA2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	mortality/aging,-	Colorectal cancer  |Reduced proapoptotic activity,-	ICGC,
chr21	39975644	39975644	G	A	intronic	ERG	unknown	SNV	-	-	-	6.465e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546,LIRI-JP|1|258|0.00388	-	-	mortality/aging	-	ICGC,
chr18	70827954	70827954	G	A	ncRNA_intronic	LOC400655	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr11	31113057	31113057	G	A	intergenic	DCDC5,DCDC1	unknown	SNV	-	0.96	-	-	-	-	-	-	-	-	-	SKCM-US|1|335|0.00299,MELA-AU|1|183|0.00546	-	-	-,-	Dyslexia |Schizophrenia  ,-	ICGC,
chr4	74260718	74260720	ATC	-	intergenic	ANKRD17,ALB	unknown	deletion	-	-	-	-	-	-	-	-	-	COSN2044061	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging,mortality/aging	-,Dysalbuminaemic hyperthyroxinaemia, familial|Bisalbuminaemia|Analbuminaemia|Albumin variant	COSMIC,ICGC,
chr21	23843827	23843827	C	T	intergenic	LINC00308,D21S2088E	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	23136678	23136678	G	A	intergenic	ZNF385D-AS2,UBE2E2	unknown	SNV	-	-	-	-	rs540334451	-	0.000199681	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	71737557	71737557	G	A	intergenic	PTCD2,ZNF366	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	cardiovascular system phenotype,-	-,-	ICGC,
chrX	105303491	105303491	G	A	intergenic	SERPINA7,MUM1L1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Thyroxine-binding globulin-slow variant|Thyroxine-binding globulin excess|Thyroxine-binding globulin deficiency, association|Thyroxine-binding globulin deficiency,-	ICGC,
chr19	40650759	40650759	A	T	intergenic	ZNF780A,MAP3K10	unknown	SNV	-	-	-	0.0030	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,mortality/aging	-,-	ICGC,
chr10	72216921	72216921	A	T	intergenic	NODAL,PALD1	unknown	SNV	-	-	-	0.3607	rs4747031	-	0.458267	-	0.413	-	-	ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488	-	-	mortality/aging,no phenotypic analysis	Transposition of the great arteries|Tetralogy of Fallot|Situs ambiguus|Reduced activity|Patent ductus arteriosus.|Double outlet right ventricle|Congenital heart disease,-	ICGC,
chr6	97061159	97061159	C	T	intronic	FHL5	unknown	SNV	-	-	-	0.3854	rs9486725	-	0.398962	-	0.442	COSN14762837	-	ESAD-UK|1|301|0.00332	-	-	reproductive system phenotype	-	COSMIC,ICGC,
chr7	87043227	87043227	A	C	intronic	ABCB4	unknown	SNV	-	-	-	3.228e-05	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	reproductive system phenotype	Intrahepatic cholestasis, familial progressive 3|Intrahepatic cholestasis, familial progressive|Intrahepatic cholestasis of pregnancy.|Intrahepatic cholestasis of pregnancy, severe form, association|Intrahepatic cholestasis of pregnancy, association |Liver disease, in cystic fibrosis patients, association with|Low phospholipid associated cholelithiasis|Low-phospholipid-associated cholelithiasis|LPAC syndrome with dilation of the bile ducts and gallstones|LPAC syndrome with intrahepatic cholestasis of pregnancy|Obstetric cholestasis.|Pancreatitis & cholelithiasis |Reduced promoter activity|Intrahepatic cholestasis of pregnancy|Increased promoter activity|Idiopathic infant cholestasis, protection against, association|Cholangitis|Cholangitis and cholangiocarcinoma|Cholangitis/Cholestasis|Cholelithiasis |Cholestasis and intrahepatic cholestasis of pregnancy/Biliary cirrhosis with intrahepatic cholestasis of pregnancy|Cholestasis, anicteric|Cholestasis, drug-induced|Cholestasis, intrahepatic|Cholestasis, low phospholipid-associated|Cholestasis, oral contraceptive-induced|Cholesterol gallstone disease|Hepatocellular injury, drug-induced|Hepatolithiasis, primary	ICGC,
chr7	123041561	123041561	G	A	intergenic	SLC13A1,IQUB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	skeleton phenotype,-	Schizophrenia,-	ICGC,
chr16	8083777	8083777	A	T	intergenic	RBFOX1,TMEM114	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7274569	-	PACA-AU|1|391|0.00256	-	-	mortality/aging,-	Muscular and feet abnormalities|Mental retardation|Epilepsy, rolandic  |Epilepsy|Developmental delay, facial dysmorphism  |Developmental delay and transposition of the great arteries|Developmental delay and diplegia|Developmental delay and craniosynostosis|Developmental delay  |Cardiac defects|Cardiac abnormalities, micrognathia and scoliosis|Autism spectrum disorder|Autism|Attention deficit hyperactivity disorder ,Developmental delay|Cataract, congenital	COSMIC,ICGC,
chr9	23957579	23957579	-	A	intergenic	ELAVL2,IZUMO3	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	Schizophrenia, association with  ,-	ICGC,
chr12	73525876	73525877	AC	-	intergenic	TRHDE,LOC101928137	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|4|67|0.05970	-	-	no phenotypic analysis,-	-,-	ICGC,
chr4	81734996	81734996	G	A	intronic	C4orf22	unknown	SNV	-	-	-	3.313e-05	-	-	-	-	-	COSN14659728	-	PAEN-AU|1|52|0.01923	-	-	-	-	COSMIC,ICGC,
chr19	15976366	15976366	G	A	intergenic	UCA1,CYP4F2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Warfarin responsiveness, association with|Warfarin dosage|Stroke, increased risk, association with|Ischemic stroke, increased risk|Ischaemic stroke, association with|Increased vitamin E-{omega}-hydroxylase activity to tocopherols|Increased arterial wave reflections in male Chinese, association|Decreased 20-HETE production, association with|Coumarin dose requirement, association with	ICGC,
chr2	153712209	153712209	G	A	intergenic	ARL6IP6,RPRM	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7109565	-	PACA-AU|1|391|0.00256	-	-	-,-	Autism spectrum disorder|Bardet-Biedl like features,-	COSMIC,ICGC,
chr8	31712090	31712090	A	C	intronic	NRG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype	Sudden cardiac death, association with|Schizophrenia, association with  |Schizophrenia in African Americans, association with|Prepulse inhibition, association with|Perceptual aberration of schizotypal personality, association with|Increased lateral ventricle volume in schizophrenia|Hirschsprung disease|Developmental delay, hypotonia & microcephaly|Alzheimers disease, association with	ICGC,
chr12	58307855	58307855	C	T	intergenic	CTDSP2,LOC100506844	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr4	181055766	181055766	T	C	intergenic	NONE,LINC00290	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr18	71903659	71903659	G	A	intergenic	TIMM21,CYB5A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,homeostasis/metabolism phenotype	-,Reduced expression|Methaemoglobinaemia 4|46,XY disorder of sex development |17,20-lyase deficiency, isolated|17-alpha-hydroxylase/17,20-lyase deficiency	ICGC,
chr20	4476471	4476471	A	G	intergenic	ADRA1D,PRNP	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	behavior/neurological phenotype,mortality/aging	-,Pan-autonomic failure, sensory neuropathy & cognitive impairment|Leg hyperreflexia in Gerstmann-Sträussler-Scheinker syndrome|Gerstmann-Sträussler-Scheinker syndrome.|Gerstmann-Sträussler-Scheinker syndrome and Creutzfeldt-Jakob disease, rapidly progressive.|Gerstmann-Sträussler-Scheinker syndrome  presenting as familial Creutzfeldt-Jakob disease|Gerstmann-Straeussler-Scheinker syndrome|Gerstmann-Straeussler syndrome, association with|Gerstmann-Straeussler syndrome|Parkinson disease  |Presenile dementia and hypokinetic syndrome|Wilson disease, neurological, modifier of|Spongiform encephalopathy, familial|Schizoaffective disorder|PrP cerebral amyloid angiopathy|Progressive ataxo-spastic syndrome with mild cognitive impairment|Prion disease, resistance to, association with|Prion disease|Primary dementia with prominent frontotemporal signs|Gastric cancer|Fatal insomnia|Creutzfeldt-Jakob syndrome|Creutzfeldt-Jakob disease, slowly progressive.|Creutzfeldt-Jakob disease, rapidly progressive.|Creutzfeldt-Jakob disease, rapidly progressive, and Creutzfeldt-Jakob disease, slowly progressive.|Creutzfeldt-Jakob disease risk, association with|Atypical parkinsonism.|Alzheimer disease risk|Alzheimer disease|Creutzfeldt-Jakob syndrome, protection, association with|Creutzfeldt-Jakob syndrome, sporadic, association|Fatal familial insomnia, association with|Fatal familial insomnia|Encephalopathy, familial|Diarrhoea, autonomic failure & neuropathy|Dementia, young-onset|Dementia, neurodegenerative|Dementia|Creutzfeldt-Jakob syndrome.	ICGC,
chr16	18138609	18138609	A	T	intergenic	XYLT1,NPIPA7	unknown	SNV	-	-	-	0.2727	rs35296555	-	0.249201	-	0.167	-	-	ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488	-	-	-,-	Decreased serum glycosaminoglycan levels, association with|Desbuquois dysplasia type 2|Diabetes, type 1, protection, association |Diabetic nephropathy protection |Increased serum XT1 activity in pseudoxanthoma elasticum, association|Short stature & intellectual disability,-	ICGC,
chr4	136673443	136673443	G	A	intergenic	PABPC4L,LINC00613	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Autism spectrum disorder  ,-	ICGC,
chr10	63310597	63310597	C	T	intergenic	LOC101928781,C10orf107	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BOCA-UK|1|130|0.00769	-	-	-,-	-,-	ICGC,
chr8	94745756	94745756	C	T	exonic	RBM12B	synonymous	SNV	-	-	-	-	-	-	-	-	-	-	LUAD|1|543|0.00184	-	-	-	-	-	TCGA,
chr8	47378204	47378204	G	A	intergenic	NONE,LINC00293	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	14642451	14642451	G	A	intergenic	LINC01085,CPEB2-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr15	78029137	78029148	AAAGAAAAGAAA	-	intergenic	LOC101929478,LOC645752	unknown	deletion	-	-	-	3.235e-05	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr2	195632663	195632663	T	A	intergenic	LOC101927431,SLC39A10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr15	67246853	67246853	G	A	intergenic	SMAD6,SMAD3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,integument phenotype	Cardiovascular malformation, congenital,Thoracic aortic aneurysms and dissections|Osteoarthritis|Hypoplastic left heart syndrome with aortic aneurysm|Aortic aneurysms & dissections with early-onset osteoarthritis|Aneurysms-osteoarthritis syndrome	ICGC,
chr11	76736657	76736657	C	T	intergenic	ACER3,B3GNT6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,mortality/aging	-,-	ICGC,
chr7	149876983	149876983	T	C	intergenic	ATP6V0E2,ACTR3C	unknown	SNV	-	-	-	0.1069	rs201883301	-	-	-	-	COSN24471895	-	GACA-CN|1|123|0.00813,SKCA-BR|1|100|0.01000	-	-	-,-	-,Autism spectrum disorder	COSMIC,ICGC,
chr2	226569045	226569045	C	T	intergenic	NYAP2,MIR548AR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr6	81821270	81821270	C	T	intergenic	BCKDHB,FAM46A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	Maple syrup urine disease,Tuberculosis, susceptibility to 	ICGC,
chr4	20679110	20679110	T	C	intergenic	SLIT2,PACRGL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Schizophrenia  ,-	ICGC,
chr10	86454266	86454266	C	T	intergenic	CCSER2,LOC101929624	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20980698	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chrX	57539368	57539368	-	ATT	intergenic	FAAH2,ZXDB	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	Intellectual disability, X-linked|Autism spectrum disorder,-	ICGC,
chr15	33059548	33059548	C	T	UTR3	FMN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype	Autism spectrum disorder|Oligosyndactyly, radioulnar synostosis, hearing loss, renal defect	ICGC,
chr3	63123664	63123664	T	A	intergenic	LINC00698,SYNPR	unknown	SNV	-	-	-	0.0003	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,no phenotypic analysis	-,-	ICGC,
chr10	1533122	1533122	C	T	intronic	ADARB2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr5	177901876	177901876	G	T	intronic	COL23A1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN18056597	-	-	-	-	-	-	COSMIC,
chr22	40701701	40701701	C	T	intronic	TNRC6B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr20	23969964	23969964	G	C	upstream	GGTLC1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|2|170|0.01176	-	-	-	-	ICGC,
chr10	3791938	3791938	C	G	intergenic	PITRM1,KLF6	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23700244	-	ORCA-IN|1|178|0.00562	-	-	-,integument phenotype	-,Decreased promoter activity|Lung adenocarcinoma, reduced risk, association with.|Nonalcoholic fatty liver disease fibrosis, association with|Prostate cancer |Prostate cancer, risk, association with|Reduced hepatic insulin resistance	COSMIC,ICGC,
chr5	163376006	163376006	G	T	intergenic	MAT2B,LOC101927835	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7906818	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	COSMIC,ICGC,
chr3	32300891	32300891	T	C	intronic	CMTM8	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26578329	-	LICA-CN|1|402|0.00249	-	-	-	-	COSMIC,ICGC,
chr2	119580417	119580417	G	A	intergenic	LOC101927709,EN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,-	ICGC,
chr9	120588758	120588758	G	A	intergenic	TLR4,BRINP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,-	Phenotypic variation in haemochromatosis, association with|Periodontitis, association with|Pancreatic necrotic infection, association with|Negative association with FMF|Nasopharyngeal cancer, increased risk, association with|Moraxella catarrhalis infection, increased risk, association with|Metabolic syndrome, association with|Meningococcal disease susceptibility|Meningococcal disease mortality|Lung function, association with|Lower left ventricular mass, in hypertensive women, association|Increased risk of cirrhosis in chronic hepatitis C ?|Increased liver and body fat, association with|Potential protein deficiency|Preterm birth and premature rupture of membranes, association with|Tuberculosis susceptibility, in HIV-infected patients, association|Serious infection, in HIV-1 patients, association with|Retinitis pigmentosa |Reduced LPS-induced IL-12 secretion, association with|Reduced expression|Pulmonary tuberculosis, susceptibility and severity, association|Pulmonary tuberculosis, severity, association with|Protection from urinary tract infection, association with|Protection against being overweight|Prostate cancer, increased risk|Prostate cancer risk, association with|Primary open-angle, normal-tension, and exfoliation glaucoma, association with.|Typhoid infection, increased risk, association with|Increased IL-4 secretion response to measles vaccination, association|Cutaneous leishmaniasis, association with|Crohn's disease, association with|Colorectal cancer, association with.|Colorectal cancer risk, association with|Cervical cancer, early stage, association with|Cancer, increased risk, association with|Bronchopulmonary Dysplasia, infant, association with|Breast cancer, association with.|Behcet disease, protection against, association with|Altered monocyte receptor levels|Acute pyelonephritis, reduced risk in adults, association with|Acute pyelonephritis, in children, association with|Diabetes, type 2, protection against, association with|Digestive system cancer, increased risk & prostate cancer, protection against, association with|Emphysema, association with|Increased expression|Helicobacter pylori-related gastric atrophy, association with|HBV recurrence after liver transplantation, association with|Guillain-Barré syndrome, association with|Guillain-Barré syndrome, AMAN sub-type, association with|Gastritis, association with|Gastric carcinoma, association with|Endometriosis, association with|Endotoxin hyporesponsiveness, association with|Extra-intestinal manifestations in Crohn's disease, association with.|Gastric adenocarcinoma, association with|Gastric cancer, association with,-	ICGC,
chr2	50906666	50906666	C	A	intronic	NRXN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	mortality/aging	Hypotonia|Hypotonia & encephalopathy|Increased white matter volume, association with|Intellectual disability  |Intellectual disability & attention deficit hyperactivity disorder|Intellectual disability & hearing loss|Intellectual disability & pervasive developmental disorder|Intellectual disability and autism|Intellectual disability, nonsyndromic |Intellectual disability, seizures, dysmorphisms & language delay|Growth retardation  |Epilepsy, myoclonic seizures & speech delay|Developmental disorder|Developmental disorder & attention deficit hyperactivity disorder|Developmental disorder, seizures & attention deficit hyperactivity disorder|Developmental/intellectual disability, hypotonia & dysmorphic features|Disorder of muscle, ligament & fascia|Encephalopathy  |Epilepsy  |Epilepsy with cognitive impairment / autism spectrum disorder|Epilepsy with focal seizures|Epilepsy, generalised |Intellectual disability, seizures, language delay & hypotonia|Language delay|Learning difficulties|Respiratory distress & sepsis|Respiratory distress syndrome|Schizophrenia |Schizophrenia, childhood onset |Schizophrenia, disorganised type|Seizures, generalized tonic-clonic & attention deficit hyperactivity disorder|Sensory integration disorder & attention deficit hyperactivity disorder|Speech delay & social communication difficulties|Tourette syndrome|Pervasive developmental disorder / hypotonia|Pervasive developmental disorder|Pervasive developmental delay / mental retardation, lack of coordination & hearing loss|Learning difficulties, ADHD & autism|Mental retardation|Mental retardation, autism, vertebral malformations|Mental retardation, Pitt-Hopkins-like|Microcephaly & mental retardation|Multiple congenital anomalies  |Multiple disabilities|Myoclonic epilepsy   |Neurodevelopmental disorder  |Vertebral anomalies|Developmental delay, speech delay & social communication difficulties|Attention deficit hyperactivity disorder |Autism spectrum disorder, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability & language delay|Autism spectrum disorder, intellectual disability, dysmorphisms, developmental delay & language delay|Autism spectrum disorder, intellectual disability, seizures & developmental delay|Autism spectrum disorder, intellectual disability, seizures, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability, seizures, dysmorphisms & language delay|Autism spectrum disorder, seizures, developmental delay & language delay|Autism, intellectual disability & attention deficit hyperactivity disorder|Autistic disorder|Autism spectrum disorder with developmental & speech delay|Autism spectrum disorder & seizures|Autism spectrum disorder & language delay|Autism |Autism & learning difficulties|Autism & mental retardation|Autism & seizures|Autism spectrum disorder|Autism spectrum disorder & attention deficit hyperactivity disorder|Autism spectrum disorder & developmental delay|Autism spectrum disorder & dysmorphic features|Autism spectrum disorder & intellectual disability|Behavioural problems|Congenital heart defect  |Craniofacial dysmorphism|Developmental delay & speech/motor delay|Developmental delay with early-onset epilepsy|Developmental delay, dysmorphic features & short stature|Developmental delay, epilepsy, autism|Developmental delay, language delay & hypotonia|Developmental delay, learning difficulties, ADHD|Developmental delay, microcephaly & behavioural problems|Developmental delay, pulmonic stenosis & autism spectrum disorder|Developmental delay, short stature and diaphragmatic hernia|Developmental delay, speech delay & microcephaly|Developmental delay & seizures|Developmental delay & seizure disorder|Cystic hygroma, hydrops & micrognathia|Cystic hygroma, shortened upper limbs & fetal demise|Developmental & speech delay|Developmental delay|Developmental delay / autism|Developmental delay & autism|Developmental delay & dysmorphic features|Developmental delay & epilepsy|Developmental delay & hypotonia|Developmental delay & multiple congenital anomalies	ICGC,
chr1	60290739	60290739	G	T	intronic	HOOK1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	reproductive system phenotype	-	ICGC,
chr18	400221	400221	C	A	intronic	COLEC12	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr7	50221907	50221907	C	T	intergenic	C7orf72,IKZF1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Systemic lupus erythematosus, association with	ICGC,
chr8	141350438	141350438	C	A	intronic	TRAPPC9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	Mental retardation, non-syndromic, autosomal recessive|Intellectual disability, nonspecific, autosomal recessive|Intellectual disability & microcephaly|Developmental delay, dysmorphic features and mental retardation	ICGC,
chr7	35451699	35451699	A	C	intergenic	LOC401324,HERPUD2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr4	14627426	14627426	C	G	intergenic	LINC01085,CPEB2-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	ICGC,
chr11	99687267	99687267	C	T	intronic	CNTN5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	-	ICGC,
chr5	109807435	109807435	G	A	intronic	TMEM232	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-	-	ICGC,
chr11	115349790	115349790	G	A	intronic	CADM1	unknown	SNV	-	-	-	9.701e-05	rs553999989	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	hematopoietic system phenotype	Autism spectrum disorder	ICGC,
chr3	185184670	185184670	G	C	exonic	MAP3K13	unknown	SNV	0.0	0.352	-	-	-	-	-	-	-	COSM5624546	-	-	-	-	-	-	COSMIC,COSMIC,COSMIC,
chr3	195223526	195223526	G	A	intergenic	MIR5692C1,PPP1R2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20722076	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr2	121419478	121419478	-	GACTT	intergenic	LINC01101,GLI2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,integument phenotype	-,Hypopituitarism  |Hypopituitarism & ectopic posterior pituitary lobe|Hypopituitarism and/or post-axial polydactyly|Multiple pituitary hormone deficiency|Reduced transcriptional activity|Schizophrenia|Holoprosencephaly, lobar|Holoprosencephaly-like phenotype|Cleft lip |Craniofacial anomalies |Holoprosencephaly |Holoprosencephaly spectrum phenotype|Holoprosencephaly with anophthalmia, branchial arch anomalies & CNS anomalies|Holoprosencephaly with heminasal aplasia & orbital anomalies	ICGC,
chr7	31793245	31793245	T	G	intronic	PDE1C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	taste/olfaction phenotype	Developmental delay  	ICGC,
chr7	78365581	78365581	T	A	intronic	MAGI2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	mortality/aging	Seizures|Schizophrenia|Myoclonic epilepsy |Infantile spasms in Williams-Beuren syndrome|Infantile spasms|Developmental delay & microcephaly|Developmental delay  |Developmental and/or speech and/or behavioural problems	ICGC,
chrX	49855456	49855456	T	C	exonic	CLCN5	nonsynonymous	SNV	0.004	0.974	-	-	-	-	-	-	-	-	CESC|1|194|0.00515	CESC-US|1|194|0.00515	-	-	skeleton phenotype	Dent (Japan) disease|Rickets, hypophosphataemic|Nephrolithiasis, hypercalciuric|Low molecular weight proteinuria|Dent disease 2|Dent disease	TCGA,ICGC,
chr13	105368735	105368735	G	A	intergenic	MIR548AS,DAOA-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr7	147753289	147753289	G	A	ncRNA_intronic	MIR548F3,MIR548T	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	103799953	103799953	C	T	intergenic	NUDT12,RAB9BP1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17401850	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr2	140356644	140356644	T	G	intergenic	YY1P2,LRP1B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24756771	-	GACA-CN|1|123|0.00813	-	-	-,mortality/aging	-,Schizophrenia   	COSMIC,ICGC,
chr4	96632577	96632577	A	T	intergenic	UNC5C,PDHA2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-UK|1|141|0.00709	-	-	mortality/aging,-	Colorectal cancer  |Reduced proapoptotic activity,-	ICGC,
chr3	192535598	192535598	C	A	intronic	MB21D2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-	-	ICGC,
chr2	221428640	221428640	T	A	intergenic	MIR4268,EPHA4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,reproductive system phenotype	-,Amyotrophic lateral sclerosis, reduced disease severity	ICGC,
chr5	17913345	17913345	C	A	intergenic	LOC401177,CDH18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	-,Anorectal malformation	ICGC,
chr6	93503914	93503914	G	A	intergenic	CASC6,EPHA7	unknown	SNV	-	-	-	3.233e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,nervous system phenotype	-,Development delay and dysmorphic features|Leukemia, risk, association with 	ICGC,
chr15	20470003	20470003	G	A	intergenic	NONE,CHEK2P2	unknown	SNV	-	-	-	6.458e-05	rs77193477	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-,-	-,-	ICGC,
chr10	98715829	98715829	G	T	UTR3	LCOR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr2	155711917	155711917	A	G	UTR3	KCNJ3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-JP|1|585|0.00171	-	-	cardiovascular system phenotype	Schizophrenia, association with  	ICGC,
chr4	94429224	94429224	A	G	intronic	GRID2	unknown	SNV	-	-	-	0.8327	rs4693326	-	0.8123	-	0.638	-	-	LAML-KR|1|205|0.00488	-	-	mortality/aging	Cerebellar ataxia & tonic upgaze|Cerebellar ataxia and atrophy|Schizophrenia|Spastic paraplegia, complicated	ICGC,
chr3	66701532	66701532	-	GGGGGGGGGGG	intergenic	LRIG1,KBTBD8	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	integument phenotype,-	-,-	ICGC,
chr1	110350493	110350493	G	C	intergenic	EPS8L3,CSF1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8886314	-	OV-AU|1|93|0.01075	-	-	-,integument phenotype	Marie Unna hereditary hypotrichosis,Periodontitis, association with 	COSMIC,COSMIC,ICGC,
chr8	76770317	76770317	C	T	intergenic	HNF4G,LINC01111	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	respiratory system phenotype,-	-,-	ICGC,
chr7	153410130	153410130	G	A	intergenic	ACTR3B,DPP6	unknown	SNV	-	-	-	3.228e-05	-	-	-	-	-	COSN21504580	-	BRCA-UK|1|141|0.00709,BRCA-EU|1|569|0.00176	-	-	-,nervous system phenotype	-,Autism spectrum disorder  |Schizophrenia  |Ventricular fibrillation, idiopathic 	COSMIC,ICGC,
chr12	61438996	61438996	A	G	intergenic	SLC16A7,FAM19A2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	Autism spectrum disorder,-	ICGC,
chr16	59914574	59914574	A	T	ncRNA_intronic	LOC101927580	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5408646	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr14	48634775	48634775	A	C	intergenic	LINC00648,RPS29	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19408383	-	-	-	-	-,-	-,-	COSMIC,
chr6	98156909	98156909	G	A	downstream	LOC101927314	unknown	SNV	-	-	-	3.264e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr8	14490129	14490129	T	A	intronic	SGCZ	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24708987	-	GACA-CN|1|123|0.00813	-	-	-	Cervical artery dissection	COSMIC,ICGC,
chr10	20167899	20167899	C	T	intronic	PLXDC2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|2|100|0.02000,MELA-AU|1|183|0.00546	-	-	nervous system phenotype	Pancreatic cancer 	ICGC,
chr6	96823002	96823002	G	A	intergenic	FUT9,UFL1	unknown	SNV	-	-	-	-	rs144183301	-	0.000199681	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	normal phenotype,mortality/aging	-,Schizophrenia	ICGC,
chr1	67768362	67768362	A	G	intergenic	IL23R,IL12RB2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype,hematopoietic system phenotype	Psoriasis susceptibility, association with|Psoriasis, increased risk, association with|Psoriasis, reduced risk|Pulmonary tuberculosis severity, association with|Radiographic sacroiliitis in spondyloarthritis, protection against|Serum IL-17A concentrations, association with|Ulcerative colitis, protection against|Ulcerative colitis, protection against, association with in females|Uncerative colitis, association with|Psoriasis protection|Ovarian cancer risk, association with|Inflammatory bowel disease, reduced risk|Ankylosing spondylitis, reduced risk|Behcet disease, protection against, association with|Breast, lung and nasopharyngeal cancer, association with|Crohn's disease, protection against|Crohn's disease, susceptibility to  |G allele associated with psoriasis|Gastric cancer, decreased risk, association with|Graves disease|Idiopathic achalasia, association with,Tuberculosis, susceptibility to, association with|Increased promoter activity|Atopy	ICGC,
chr15	29603906	29603906	A	C	intronic	FAM189A1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27176240	-	ESAD-UK|1|301|0.00332	-	-	-	-	COSMIC,ICGC,
chr2	36246849	36246849	G	A	intergenic	NONE,LOC100288911	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5503047	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr5	58640936	58640936	A	G	intronic	PDE4D	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	mortality/aging	Psychomotor retardation, coarse facies & ocular anomalies|Intellectual disability syndrome with low body mass index & facial features|Acrodysostosis	ICGC,
chr4	183556613	183556613	T	-	intronic	TENM3	unknown	deletion	-	-	-	3.231e-05	-	-	-	-	-	-	-	CLLE-ES|1|510|0.00196	-	-	mortality/aging	Microphthalmia  	ICGC,
chr2	240340642	240340642	A	T	intergenic	HDAC4,LOC150935	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN18943289	-	-	-	-	integument phenotype,-	Anorexia nervosa/bulimia nervosa|Autism spectrum disorder|Brachydactyly mental retardation syndrome|Brachydactyly mental retardation syndrome & hyperoxaluria, type 1,-	COSMIC,COSMIC,
chr2	182678304	182678304	G	-	intergenic	NEUROD1,SSFA2	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,integument phenotype	Potential protein deficiency|Diabetes, type 2, early-onset |Diabetes, permanent neonatal|Diabetes, MODY|Diabetes mellitus, type 2, association with|Diabetes mellitus, type 2|Diabetes mellitus, type 1, association with,-	ICGC,
chr1	5241183	5241183	C	T	intergenic	AJAP1,MIR4417	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr1	97648658	97648658	C	T	ncRNA_intronic	DPYD-AS1	unknown	SNV	-	-	-	-	rs369810735	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|2|183|0.01093	-	-	-	-	ICGC,
chr17	50792027	50792027	T	C	intergenic	CA10,C17orf112	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Schizophrenia,-	ICGC,
chr4	106973734	106973734	T	C	intronic	TBCK	unknown	SNV	-	-	-	3.243e-05	-	-	-	-	-	COSN20651919	-	BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr5	168412182	168412182	A	T	intronic	SLIT3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20948040	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging	Schizophrenia  |Major depressive disorder |Autism spectrum disorder	COSMIC,ICGC,
chr4	95352425	95352426	CA	-	intergenic	HPGDS,PDLIM5	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype,mortality/aging	-,Bipolar disorder and schizophrenia, association with|Schizophrenia, association with 	ICGC,
chr4	23258847	23258847	G	A	ncRNA_intronic	MIR548AJ2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr2	212814922	212814922	T	A	intronic	ERBB4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	integument phenotype	Schizophrenia |Oligohydramnios|Intellectual disability, hyperactivity & speech developmental delay|Increased promoter activity|Hepatocellular carcinoma, increased risk, association with|Epileptic encephalopathy, early infantile 3|Breast and colorectal cancer, association with|Bipolar disorder, association with |Bipolar disorder |Autism spectrum disorder  |Amyotrophic lateral sclerosis type 19	ICGC,
chr17	33897288	33897288	-	CCAA	intergenic	SLFN14,SNORD7	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr4	88830813	88830813	G	A	intergenic	MEPE,SPP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	skeleton phenotype,integument phenotype	-,Increased inflammatory activity of the liver, association with|Lower apoB levels|Multiple sclerosis, age of onset, association with |Multiple sclerosis, susceptibility, association with |Muscular dystrophy, Duchenne, modifier of|Increased carotid intima-media thickness, association with|Glioma, increased risk, association with|Glioma, decreased risk, association with|Altered transcriptional activity|Calcium urolithiasis, association with|Carotid intima-media thickness, association with|Decreased E/A ratio in hypertensive patients|Diabetes, type 1, association with	ICGC,
chr14	19614358	19614358	G	A	intergenic	POTEG,DUXAP10	unknown	SNV	-	-	-	0.0009	rs540916755	-	0.00119808	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	153440681	153440681	C	T	intergenic	S100A7,S100A6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr22	41574511	41574513	CAG	-	exonic	EP300	nonframeshift	deletion	-	-	0.0018	0.0018	rs533875300	0.0017	0.00159744	0.0037	-	COSM4385265	-	PBCA-US|1|186|0.00538	Rubinstein-Taybi_syndrome|not_specified|not_provided	-	mortality/aging	Schizophrenia|Rubinstein-Taybi syndrome, non-typical|Rubinstein-Taybi syndrome|Cornelia de Lange syndrome features	ClinVar,COSMIC,ICGC,
chr1	214395112	214395112	G	A	intergenic	PROX1,SMYD2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,cardiovascular system phenotype	-,-	ICGC,
chr15	77906739	77906739	C	T	exonic	LINGO1	nonsynonymous	SNV	0.0	1.0	8.177e-06	-	rs759222486	8.39e-06	-	-	-	COSM6852270	TGCT|1|155|0.00645	-	-	-	nervous system phenotype	-	COSMIC,TCGA,
chr5	20787073	20787073	C	A	intergenic	CDH18,GUSBP1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24459206	-	GACA-CN|1|123|0.00813	-	-	-,-	Anorectal malformation,-	COSMIC,ICGC,
chr1	207192171	207192171	C	A	UTR3	C1orf116	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr7	151002225	151002225	A	G	intergenic	SMARCD3,NUB1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2210245	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,Congenital heart disease 	COSMIC,ICGC,
chr3	188277648	188277648	G	A	intronic	LPP	unknown	SNV	-	-	-	6.474e-05	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging	Tetralogy of Fallot & VACTERL association|Tetralogy of Fallot|Celiac disease, reduced risk	ICGC,
chr9	89100851	89100851	T	A	intergenic	ZCCHC6,GAS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,Holoprosencephaly-like phenotype |Holoprosencephaly	ICGC,
chr3	111298139	111298139	C	T	intronic	CD96	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCM-US|1|335|0.00299	-	-	-	C syndrome	ICGC,
chr1	156845273	156845273	G	T	intronic	NTRK1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26664728	-	LICA-CN|2|402|0.00498	-	-	integument phenotype	Sensory and autonomic neuropathy type V|Sensory and autonomic neuropathy type IV, atypical.|Sensory and autonomic neuropathy type IV|Sensory and autonomic neuropathy  |Schizophrenia, association with|Pain insensitivity, congenital with anhidrosis.|Pain insensitivity, congenital with anhidrosis|Pain insensitivity, congenital|Insensitivity to pain, congenital with anhidrosis|Alzheimer's disease, sporadic, association with	COSMIC,ICGC,
chr3	162931374	162931374	GG	AA	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr19	6243247	6243247	G	A	intronic	MLLT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	-	ICGC,
chr4	48963455	48963455	T	C	intergenic	OCIAD2,CWH43	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9043738	-	OV-AU|1|93|0.01075	-	-	-,-	-,-	COSMIC,ICGC,
chr10	16009242	16009242	G	A	intergenic	FAM188A,PTER	unknown	SNV	-	-	-	0.2069	rs12773680	-	0.284744	-	0.254	-	-	ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488	-	-	-,-	Non-small-cell lung cancer, increased risk, association with,-	ICGC,
chr18	67390560	67390560	G	A	intronic	DOK6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr13	81139923	81139923	C	T	intergenic	SPRY2,NONE	unknown	SNV	-	-	-	0.5956	rs9545478	-	0.530751	-	0.551	-	-	LAML-KR|1|205|0.00488	-	-	mortality/aging,-	Cleft lip ,-	ICGC,
chr6	1236113	1236113	C	T	intergenic	LOC285768,FOXQ1	unknown	SNV	-	-	-	0.0171	rs73391817	-	0.0233626	-	0.014	COSN15351398	-	LAML-KR|1|205|0.00488	-	-	-,integument phenotype	-,-	COSMIC,ICGC,
chr6	93611787	93611787	T	A	intergenic	CASC6,EPHA7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,nervous system phenotype	-,Development delay and dysmorphic features|Leukemia, risk, association with 	ICGC,
chrX	146600892	146600892	A	C	intergenic	MIR514A3,FMR1-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr6	36614280	36614280	C	T	intergenic	MIR3925,PANDAR	unknown	SNV	-	-	-	-	rs539420076	-	0.000399361	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	190782624	190782624	C	T	intergenic	PMS1,MSTN	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	tumorigenesis,mortality/aging	Colorectal cancer, non-polyposis,McArdle disease, modifier of, association with|Muscle hypertrophy, gross|Reduced muscle power, association with 	ICGC,
chr15	95454924	95454924	C	T	intergenic	LOC440311,LINC01197	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,-	-,-	ICGC,
chr6	94299934	94299934	T	G	intergenic	EPHA7,TSG1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15477476	-	OV-AU|1|93|0.01075	-	-	nervous system phenotype,-	Development delay and dysmorphic features|Leukemia, risk, association with ,-	COSMIC,COSMIC,ICGC,
chr3	89468520	89468520	T	C	exonic	EPHA3	nonsynonymous	SNV	0.0	1.0	2.614e-05	3.241e-05	rs200071736	1.717e-05	-	-	-	COSM4630909	-	-	-	-	mortality/aging	Oligozoospermia|Schizophrenia    |Sertoli-cell-only syndrome	COSMIC,
chr1	4178795	4178795	A	T	intergenic	LINC01346,LOC284661	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN10048567	-	RECA-EU|1|422|0.00237	-	-	-,-	-,-	COSMIC,ICGC,
chr7	33617728	33617728	C	A	intronic	BBS9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-	Wilms tumour |Tetralogy of Fallot|Nephronophthisis-related ciliopathy|Bardet-Biedl syndrome	ICGC,
chr4	83556457	83556457	A	G	intronic	SCD5	unknown	SNV	-	-	-	3.23e-05	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	-	ICGC,
chr6	165121627	165121627	C	A	intergenic	QKI,C6orf118	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26768890	-	PRAD-FR|1|25|0.04000	-	-	mortality/aging,-	6q terminal deletion syndrome,-	COSMIC,ICGC,
chr13	89193850	89193850	G	T	ncRNA_intronic	LINC00433	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-	-	ICGC,
chr3	140142379	140142379	A	G	intronic	CLSTN2	unknown	SNV	-	-	-	3.228e-05	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	Improved memory performance, association with	ICGC,
chr8	36581860	36581860	A	G	intergenic	UNC5D,KCNU1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,reproductive system phenotype	-,Schizophrenia  	ICGC,
chr2	18510309	18510309	A	-	intergenic	KCNS3,NT5C1B-RDH14	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Airway hyperresponsiveness, association with ,-	ICGC,
chrY	16952864	16952864	C	G	exonic	NLGN4Y	nonsynonymous	SNV	0.112	0.547	-	-	-	-	-	-	-	COSM3408050	GBM|1|290|0.00345,GBMLGG|1|820|0.00122	GBM-US|1|276|0.00362	-	-	-	Autism  	COSMIC,COSMIC,TCGA,ICGC,
chr8	113377630	113377630	T	A	intronic	CSMD3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-	Schizophrenia  |Colorectal cancer 	ICGC,
chr4	67101033	67101033	G	T	intergenic	EPHA5-AS1,LOC101927237	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16289553	-	PRAD-CA|1|308|0.00325	-	-	-,-	-,-	COSMIC,ICGC,
chr5	98351314	98351314	-	T	intergenic	LOC100289230,CTD-2151A2.1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	NKTL-SG|1|50|0.02000	-	-	-,-	-,-	ICGC,
chr22	32153269	32153269	G	T	intronic	DEPDC5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25976683	-	ESAD-UK|1|301|0.00332	-	-	-	Epilepsy, nocturnal frontal lobe, autosomal dominant|Epilepsy, familial temporal lobe|Epilepsy, familial focal with variable foci	COSMIC,ICGC,
chr10	17271338	17271338	A	C	ncRNA_intronic	VIM-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	OV-AU|1|93|0.01075	-	-	-	-	ICGC,
chr2	7660112	7660112	C	T	intergenic	LOC100506274,LOC101929551	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr17	21751566	21751566	T	G	intergenic	C17orf51,FAM27L	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,Glaucoma, primary open angle 	ICGC,
chr12	55342156	55342156	G	A	UTR3	TESPA1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype	-	ICGC,
chr7	15938102	15938102	C	G	intergenic	MEOX2-AS1,ISPD	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,Walker-Warburg syndrome / muscle-eye-brain disease|Walker-Warburg syndrome|Muscular dystrophy, limb girdle with mental retardation|Muscular dystrophy, limb girdle with cerebellar involvement|Muscular dystrophy, limb girdle|Muscular dystrophy, congenital|Muscle-eye-brain disease|Cobblestone lissencephaly	ICGC,
chr14	73927988	73927988	-	A	intergenic	NUMB,HEATR4	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	mortality/aging,-	-,-	ICGC,
chr5	28960782	28960782	T	C	intergenic	LSP1P3,LOC101929645	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr21	24420512	24420512	T	C	intergenic	LINC00308,D21S2088E	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr14	49072561	49072561	C	T	intergenic	LINC00648,RPS29	unknown	SNV	-	-	-	-	rs769293093	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr7	105098328	105098328	G	A	exonic	PUS7	nonsynonymous	SNV	0.0	1.0	4.061e-06	-	-	-	-	-	-	COSM1699147	-	-	-	-	-	-	COSMIC,
chr20	34759788	34759788	C	G	intronic	EPB41L1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20678914	-	BRCA-EU|1|569|0.00176	-	-	nervous system phenotype	Autism spectrum disorder|Intellectual disability, nonsyndromic|Schizophrenia	COSMIC,ICGC,
chr11	107793271	107793271	G	A	intergenic	SLC35F2,RAB39A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr14	52642158	52642158	C	T	intergenic	NID2,PTGDR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	cellular phenotype,mortality/aging	-,Asthma, association with|Asthma, allergic, association with|Allergy to pollen and mites, association with	ICGC,
chr9	2160420	2160420	T	A	intronic	SMARCA2	unknown	SNV	-	-	-	3.23e-05	-	-	-	-	-	COSN9705542	-	OV-AU|1|93|0.01075	-	-	integument phenotype	Short stature|Schizophrenia, association with   |Nicholaides-Baraitser syndrome|Multiple congenital anomalies  |Lung cancer, association with|Intellectual disabilty, short stature and dysmorphisms|Hepatocellular carcinoma, in smokers, association with.|Hepatocellular carcinoma, association with.|Developmental delay & dysmorphic features|Developmental delay & autistic features|Developmental delay  |Coffin-Siris syndrome	COSMIC,ICGC,
chr7	126623538	126623538	A	C	intronic	GRM8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	behavior/neurological phenotype	Attention deficit hyperactivity disorder|Autism spectrum disorder  	ICGC,
chr3	32737253	32737253	A	G	exonic	CNOT10	nonsynonymous	SNV	0.436	0.0	0.0009	0.0006	rs138063644	0.0010	0.00219649	-	0.007	-	-	COCA-CN|1|321|0.00312,LAML-KR|1|205|0.00488	-	-	-	-	ICGC,
chr2	140397201	140397201	C	T	intergenic	YY1P2,LRP1B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Schizophrenia   	ICGC,
chr5	22099982	22099982	C	T	intronic	CDH12	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	Lung cancer, susceptibility to, association with	ICGC,
chrX	41204468	41204468	A	G	exonic	DDX3X	nonsynonymous	SNV	0.0	0.258	-	-	-	-	-	-	-	COSM216865	-	PACA-CA|1|268|0.00373	-	-	-	Potential protein deficiency	COSMIC,ICGC,
chr2	60255441	60255441	A	G	intergenic	LOC101927285,MIR4432	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr12	100886007	100886007	C	T	intronic	NR1H4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging	Lipid response to rosuvastatin, association with|Intrahepatic cholestasis of pregnancy, association with|Intrahepatic cholestasis of pregnancy|Decreased hepatic target gene expression|Cholestasis, infantile	ICGC,
chr10	1309481	1309481	-	C	intronic	ADARB2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-	-	ICGC,
chr13	59787244	59787244	A	G	intergenic	LOC101926897,DIAPH3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17092943	-	-	-	-	-,-	-,Autism  |Auditory neuropathy spectrum disorder|Auditory neuropathy	COSMIC,
chr5	62328549	62328549	G	A	intergenic	IPO11,HTR1A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,Tourette syndrome |Reduced expression|Personality disorders, association with.|Menstrual cycle-dependent fever|Major depression and suicide, association with|Major depression|Impulsive behaviour, association with|Epileptic seizures |Comorbid depression and generalized anxiety, association with|Attenuated agonist-mediated receptor down-regulation and desensitization	ICGC,
chr15	42820466	42820466	G	C	exonic	SNAP23	nonsynonymous	SNV	0.12	0.302	3.25e-05	-	rs758998833	2.474e-05	-	-	-	COSM2187412	-	-	-	-	mortality/aging	-	COSMIC,
chr5	99190605	99190605	G	A	intergenic	CTD-2151A2.1,LOC100133050	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr2	223262820	223262820	A	G	intergenic	CCDC140,SGPP2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23550425	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr10	58926388	58926388	C	T	intergenic	ZWINT,MIR3924	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	-,-	ICGC,
chr13	67138388	67138388	C	A	intronic	PCDH9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr4	120876892	120876892	G	T	ncRNA_intronic	LOC100996694	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN28101597	-	PRAD-CA|1|308|0.00325	-	-	-	-	COSMIC,ICGC,
chr14	38922641	38922641	T	C	intergenic	CLEC14A,LINC00639	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15239899	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr10	114846908	114846908	G	T	intronic	TCF7L2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	integument phenotype	Reduced activity|Impaired islet function and morphology|Glaucoma, primary congenital|Diaphragmatic hernia, congenital |Diabetes, type 2, association with|Diabetes, latent autoimmune, susceptibility	ICGC,
chr1	195646197	195646197	A	T	intergenic	NONE,KCNT2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6017345	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr13	76663157	76663157	G	T	intergenic	LMO7DN,KCTD12	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr16	65437648	65437648	T	A	ncRNA_intronic	LINC00922	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr5	152002670	152002670	C	T	ncRNA_intronic	LOC101927134	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr4	136534344	136534344	T	C	intergenic	PABPC4L,LINC00613	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	Autism spectrum disorder  ,-	ICGC,
chr19	38799115	38799115	G	A	intronic	YIF1B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr3	144941999	144941999	A	G	intergenic	C3orf58,PLOD2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23038829	-	MALY-DE|1|241|0.00415	-	-	-,-	-,Bruck syndrome	COSMIC,ICGC,
chr12	56007429	56007429	C	T	intergenic	OR2AP1,OR10P1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr22	51178279	51178279	G	A	exonic	ACR	nonsynonymous	SNV	1.0	0.001	-	-	-	-	-	-	-	COSM726679	LUSC|1|178|0.00562	LUSC-US|1|194|0.00515	-	-	reproductive system phenotype	-	COSMIC,TCGA,ICGC,
chr4	147671208	147671208	GG	AA	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr20	23649517	23649517	G	A	intergenic	CST3,CST4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	cardiovascular system phenotype,-	Male infertility|Amyloidangiopathy|Alzheimer disease, association with|Altered promoter activity,-	ICGC,
chr11	98649922	98649922	G	A	intergenic	MIR7976,CNTN5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	-,behavior/neurological phenotype	-,-	ICGC,
chr2	192649205	192649205	C	T	intergenic	NABP1,SDPR	unknown	SNV	-	-	-	3.235e-05	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr5	61553209	61553209	G	T	intergenic	LOC100506526,KIF2A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,mortality/aging	-,Malformation of cortical development	ICGC,
chr3	149499591	149499591	G	A	intronic	ANKUB1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr11	26762364	26762364	G	A	intergenic	SLC5A12,FIBIN	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,Schizophrenia  	ICGC,
chr16	86267810	86267810	G	A	ncRNA_intronic	LINC01081	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr2	231415569	231415569	G	A	intergenic	SP100,LOC151475	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Altered p53 binding,-	ICGC,
chrX	148840570	148840570	C	T	intergenic	MAGEA11,HSFX1	unknown	SNV	-	-	-	-	-	-	0.000529801	-	-	COSN19435773	-	-	-	-	-,-	-,-	COSMIC,
chr3	191795437	191795437	C	T	intergenic	LINCR-0002,FGF12	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,behavior/neurological phenotype	-,-	ICGC,
chr5	37666548	37666548	G	A	intronic	WDR70	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr2	3468534	3468534	T	G	intronic	TRAPPC12	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	RECA-EU|1|422|0.00237	-	-	-	-	ICGC,
chr2	51752758	51752758	A	G	intergenic	NRXN1,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN4992958	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	Hypotonia|Hypotonia & encephalopathy|Increased white matter volume, association with|Intellectual disability  |Intellectual disability & attention deficit hyperactivity disorder|Intellectual disability & hearing loss|Intellectual disability & pervasive developmental disorder|Intellectual disability and autism|Intellectual disability, nonsyndromic |Intellectual disability, seizures, dysmorphisms & language delay|Growth retardation  |Epilepsy, myoclonic seizures & speech delay|Developmental disorder|Developmental disorder & attention deficit hyperactivity disorder|Developmental disorder, seizures & attention deficit hyperactivity disorder|Developmental/intellectual disability, hypotonia & dysmorphic features|Disorder of muscle, ligament & fascia|Encephalopathy  |Epilepsy  |Epilepsy with cognitive impairment / autism spectrum disorder|Epilepsy with focal seizures|Epilepsy, generalised |Intellectual disability, seizures, language delay & hypotonia|Language delay|Learning difficulties|Respiratory distress & sepsis|Respiratory distress syndrome|Schizophrenia |Schizophrenia, childhood onset |Schizophrenia, disorganised type|Seizures, generalized tonic-clonic & attention deficit hyperactivity disorder|Sensory integration disorder & attention deficit hyperactivity disorder|Speech delay & social communication difficulties|Tourette syndrome|Pervasive developmental disorder / hypotonia|Pervasive developmental disorder|Pervasive developmental delay / mental retardation, lack of coordination & hearing loss|Learning difficulties, ADHD & autism|Mental retardation|Mental retardation, autism, vertebral malformations|Mental retardation, Pitt-Hopkins-like|Microcephaly & mental retardation|Multiple congenital anomalies  |Multiple disabilities|Myoclonic epilepsy   |Neurodevelopmental disorder  |Vertebral anomalies|Developmental delay, speech delay & social communication difficulties|Attention deficit hyperactivity disorder |Autism spectrum disorder, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability & language delay|Autism spectrum disorder, intellectual disability, dysmorphisms, developmental delay & language delay|Autism spectrum disorder, intellectual disability, seizures & developmental delay|Autism spectrum disorder, intellectual disability, seizures, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability, seizures, dysmorphisms & language delay|Autism spectrum disorder, seizures, developmental delay & language delay|Autism, intellectual disability & attention deficit hyperactivity disorder|Autistic disorder|Autism spectrum disorder with developmental & speech delay|Autism spectrum disorder & seizures|Autism spectrum disorder & language delay|Autism |Autism & learning difficulties|Autism & mental retardation|Autism & seizures|Autism spectrum disorder|Autism spectrum disorder & attention deficit hyperactivity disorder|Autism spectrum disorder & developmental delay|Autism spectrum disorder & dysmorphic features|Autism spectrum disorder & intellectual disability|Behavioural problems|Congenital heart defect  |Craniofacial dysmorphism|Developmental delay & speech/motor delay|Developmental delay with early-onset epilepsy|Developmental delay, dysmorphic features & short stature|Developmental delay, epilepsy, autism|Developmental delay, language delay & hypotonia|Developmental delay, learning difficulties, ADHD|Developmental delay, microcephaly & behavioural problems|Developmental delay, pulmonic stenosis & autism spectrum disorder|Developmental delay, short stature and diaphragmatic hernia|Developmental delay, speech delay & microcephaly|Developmental delay & seizures|Developmental delay & seizure disorder|Cystic hygroma, hydrops & micrognathia|Cystic hygroma, shortened upper limbs & fetal demise|Developmental & speech delay|Developmental delay|Developmental delay / autism|Developmental delay & autism|Developmental delay & dysmorphic features|Developmental delay & epilepsy|Developmental delay & hypotonia|Developmental delay & multiple congenital anomalies,-	COSMIC,COSMIC,ICGC,
chr2	22617216	22617216	C	A	intergenic	LOC645949,LOC102723362	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr9	135006692	135006692	G	A	intergenic	MED27,NTNG2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,-	ICGC,
chr1	233923569	233923569	C	T	intergenic	KCNK1,SLC35F3	unknown	SNV	-	-	-	0.0002	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	homeostasis/metabolism phenotype,-	-,-	ICGC,
chr4	135000537	135000537	C	G	intergenic	PCDH10,PABPC4L	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	mortality/aging,-	Schizophrenia|Potential protein deficiency,Autism spectrum disorder  	ICGC,
chr1	163997145	163997145	C	T	intergenic	LOC100422212,PBX1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Schizophrenia	ICGC,
chr4	87508420	87508420	G	A	intergenic	MAPK10,PTPN13	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23992464	-	BRCA-FR|1|72|0.01389	-	-	behavior/neurological phenotype,hematopoietic system phenotype	Epileptic encephalopathy|Hirschsprung disease, modifier of|Intellectual disability  |Tricuspid atresia,Lung cancer, susceptibility to, association with|Squamous cell carcinoma of head & neck, association with  	COSMIC,ICGC,
chrX	94676070	94676070	A	C	intergenic	FAM133A,LOC643486	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr1	45746111	45746111	G	A	intergenic	ZSWIM5,LINC01144	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr15	101510973	101510973	A	T	intronic	LRRK1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	mortality/aging	Parkinson disease  |Potential protein deficiency	ICGC,
chr14	91661815	91661815	A	G	intronic	C14orf159	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-	-	ICGC,
chr5	146077777	146077777	T	-	intronic	PPP2R2B	unknown	deletion	-	-	-	-	-	-	-	-	-	COSN18729830	-	COCA-CN|1|321|0.00312,GACA-JP|5|585|0.00855	-	-	-	Alzheimer disease, association with |Spinocerebellar ataxia 12	COSMIC,COSMIC,ICGC,
chr2	231081465	231081465	G	A	intronic	SP110	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Tuberculosis, susceptibility to, association with|Tuberculosis, reduced susceptibility, association with|Pulmonary tuberculosis, association with|Hepatic veno-occlusive disease with immunodeficiency	ICGC,
chrX	111327428	111327428	T	G	intronic	ZCCHC16	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25274207	-	MALY-DE|1|241|0.00415	-	-	-	Autism spectrum disorder	COSMIC,ICGC,
chr8	84398292	84398292	G	A	intergenic	LINC01419,RALYL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr8	51066311	51066311	C	T	intronic	SNTG1	unknown	SNV	-	-	-	0.0162	rs114526127	-	0.0291534	-	0.036	-	-	MELA-AU|1|183|0.00546	-	-	-	Autism|Intellectual disability, cleft palate, hearing loss and dysmorphisms	ICGC,
chr5	158272980	158272980	C	T	intronic	EBF1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	-	ICGC,
chr3	170804422	170804422	-	A	intronic	TNIK	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	behavior/neurological phenotype	-	ICGC,
chr13	69205343	69205343	G	A	intergenic	PCDH9,LINC00550	unknown	SNV	-	-	-	3.363e-05	rs554172797	-	0.000199681	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	ICGC,
chr12	13578123	13578123	C	T	intergenic	C12orf36,GRIN2B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Mental retardation, behavioural anomalies & abnormal EEG|Potential protein deficiency|Schizophrenia, association with|Schizophrenia, association with.|West syndrome|Mental retardation with behavioural anomalies|Intellectual disability  |Huntington disease, earlier onset in females, association with|Focal epilepsy & intellectual disability|Autism spectrum disorder|Autism|Alzheimer disease, increased risk, association with	ICGC,
chr1	175331631	175331631	G	A	intronic	TNR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	nervous system phenotype	Schizophrenia, association with  |Intellectual disability  	ICGC,
chr9	116555429	116555429	C	T	intergenic	RGS3,ZNF618	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chrX	82842769	82842769	C	T	intergenic	POU3F4,CYLC1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype,-	X-linked mixed deafness|X-linked deafness|Sensorineural hearing loss  |Mixed hearing loss |Hearing loss, X-linked nonsyndromic|Hearing loss & mental retardation,-	ICGC,
chr5	64069231	64069231	G	A	intronic	CWC27	unknown	SNV	-	-	-	-	rs565283597	-	0.000199681	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr15	41324131	41324131	C	G	intronic	INO80	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23901024	-	LAML-KR|2|205|0.00976	-	-	-	Schizophrenia	COSMIC,COSMIC,ICGC,
chr5	117852396	117852396	A	G	ncRNA_intronic	LOC101927280	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7859245	-	PACA-AU|1|391|0.00256	-	-	-	-	COSMIC,ICGC,
chr8	84343735	84343735	C	T	intergenic	LINC01419,RALYL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|3|183|0.01639	-	-	-,-	-,-	ICGC,
chr6	109769085	109769085	C	T	exonic	MICAL1	nonsynonymous	SNV	0.007	0.96	6.12e-05	-	rs150285580	7.499e-05	0.000399361	0.0002	-	COSM4873567	UCEC|1|248|0.00403	UCEC-US|1|250|0.00400	-	-	-	-	COSMIC,COSMIC,TCGA,ICGC,
chr4	101492474	101492474	G	C	intergenic	EMCN,LINC01216	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr8	131504717	131504717	A	T	intergenic	ASAP1,ADCY8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,integument phenotype	Schizophrenia,Myocardial infarction  	ICGC,
chr19	48328536	48328537	GA	-	intronic	CRX	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	vision/eye phenotype	Retinitis pigmentosa, autosomal recessive ?|Retinitis pigmentosa, autosomal dominant|Retinitis pigmentosa|Potential protein deficiency|Macular dystrophy  |Leber congenital amaurosis|Cone/cone-rod dystrophy.|Cone-rod dystrophy|Cone dystrophy	ICGC,
chr10	135426744	135426744	GG	AA	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr5	131543528	131543528	C	A	exonic	P4HA2	nonsynonymous	SNV	0.002	0.724	0	-	-	-	-	-	-	-	PRAD|1|499|0.00200	-	-	-	-	-	TCGA,
chr1	244271110	244271110	-	T	intergenic	ZBTB18,C1orf100	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging,-	-,Potential protein deficiency	ICGC,
chr15	97860920	97860920	C	T	intergenic	SPATA8,LOC101927286	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Potential protein deficiency,-	ICGC,
chr3	100344649	100344649	G	T	intronic	GPR128	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22983643	-	PAEN-IT|1|37|0.02703	-	-	-	-	COSMIC,ICGC,
chr5	114149725	114149725	T	C	intergenic	KCNN2,TRIM36	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	integument phenotype,-	-,-	ICGC,
chr3	95844318	95844318	G	T	intergenic	MTHFD2P1,MIR8060	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16806042	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	COSMIC,ICGC,
chr13	41940597	41940597	A	G	intronic	NAA16	unknown	SNV	-	-	-	0.0866	rs9566755	-	0.127995	-	0.094	-	-	LAML-KR|1|205|0.00488	-	-	-	-	ICGC,
chr18	1617271	1617271	G	A	intergenic	LINC00470,METTL4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr14	101211359	101211359	C	T	intergenic	DLK1,MIR2392	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	-,-	ICGC,
chr15	41062839	41062839	G	A	exonic	C15orf62	nonsynonymous	SNV	0.0	0.999	-	-	-	-	-	-	-	COSM961298	UCEC|1|248|0.00403	UCEC-US|1|250|0.00400	-	-	-	Potential protein deficiency	COSMIC,TCGA,ICGC,
chr11	127693883	127693883	C	A	intergenic	LOC101929497,ETS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,Systemic lupus erythematosus, association with	ICGC,
chr2	21426360	21426360	T	A	intergenic	APOB,LOC645949	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	Hypocholesterolaemia, association with|Hypocholesterolaemia|Hypobetalipoproteinemia-induced nonalcoholic steatohepatitis|Hypobetalipoproteinaemia.|Hypobetalipoproteinaemia|Hypertriglyceridaemia |Hypocholesterolaemia, steatosis and liver cancer|Increased apoB and cholesterol levels, association with|Increased cholesterol levels|Increased LDL cholesterol levels|Ischaemic stroke, association with |Oligoasthenoteratozoospermia, association with|Oxidised low-density lipoprotein levels, association with|Total cholesterol levels, association with|Hypercholesterolemia, association with|Hypercholesterolaemia, association with|Altered APOB levels |Altered binding affinity|Aortic stenosis, association with|Apolipoprotein B deficiency|Cerebrovascular disease events, association with|Coronary artery disease, association with|Coronary heart disease|Coronary heart disease, association with|Hypercholesterolaemia ?|Hypercholesterolaemia|Hepatitis C virus infection, association with|HDL cholesterol, association with |Diabetes, MODY|Decreased bone mineral density,-	ICGC,
chr19	40464041	40464041	C	T	intergenic	FCGBP,PSMC4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	Potential protein deficiency,-	ICGC,
chr14	20368816	20368816	A	G	intergenic	OR4K2,OR4K5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr8	61924322	61924322	A	T	intergenic	LOC100130298,CLVS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr16	34292178	34292178	C	T	intergenic	LINC00273,UBE2MP1	unknown	SNV	-	-	-	0.0047	rs115836048	-	0.0061901	-	-	COSN8232119	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	COSMIC,ICGC,
chr1	238858640	238858640	G	T	intergenic	LINC01139,CHRM3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23446278	-	EOPC-DE|1|202|0.00495	-	-	-,vision/eye phenotype	-,Autistic disorder|Bladder malformation|Diabetes, type 2, increased risk, association |Tetralogy of Fallot	COSMIC,ICGC,
chr7	88224645	88224645	C	G	intergenic	STEAP4,ZNF804B	unknown	SNV	-	-	-	0.0563	rs73212470	-	0.0445288	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,-	Obesity, association with|Metabolic syndrome, association with,-	ICGC,
chr4	173742419	173742423	TCAAA	-	intronic	GALNTL6	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr2	167336128	167336128	T	G	intronic	SCN7A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	taste/olfaction phenotype	-	ICGC,
chr3	82519246	82519246	C	T	intergenic	GBE1,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging,-	Potential protein deficiency|Polyglucosan body disease, relapsing-remitting form|Polyglucosan body disease, adult|Lethal multiple pterygium syndrome|Glycogen storage disease 4, non-lethal neuromuscular|Glycogen storage disease 4, neonatal|Glycogen storage disease 4|Autism spectrum disorder|Adult polyglucosan body disease,-	ICGC,
chr8	5949584	5949584	C	T	intergenic	CSMD1,LOC100287015	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Schizophrenia, association with |Hyperinsulinism|Autism|Attention deficit hyperactivity disorder ,-	ICGC,
chr5	143753776	143753776	C	T	intronic	KCTD16	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr2	54983841	54983841	T	C	intronic	EML6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr3	86787467	86787467	T	G	intergenic	RNU6-69P,VGLL3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr17	4950797	4950797	-	GTGTGG	intergenic	SLC52A1,ZFP3	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr12	45280261	45280261	A	C	intronic	NELL2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	nervous system phenotype	-	ICGC,
chr7	89349026	89349026	C	T	intergenic	ZNF804B,STEAP2-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr6	115812082	115812082	C	T	intergenic	HS3ST5,FRK	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,homeostasis/metabolism phenotype	-,Potential protein deficiency	ICGC,
chr3	110275396	110275396	T	C	intergenic	LINC01205,PVRL3-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	79517553	79517553	C	A	intronic	ROBO1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22659161	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging	Developmental dyslexia 	COSMIC,ICGC,
chr1	3701749	3701749	G	T	exonic	LRRC47	nonsynonymous	SNV	1.0	0.003	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr16	76382671	76382671	C	T	intronic	CNTNAP4	unknown	SNV	-	-	-	0.1758	rs58799953	-	0.194688	-	0.101	-	-	LAML-KR|1|205|0.00488	-	-	-	Autism	ICGC,
chr1	180080280	180080280	G	A	exonic	CEP350	nonsynonymous	SNV	0.231	0.983	-	-	-	-	-	-	-	COSM5645944	-	-	-	-	-	-	COSMIC,COSMIC,
chr3	81413043	81413043	G	A	intergenic	ROBO1,GBE1	unknown	SNV	-	-	-	0.0002	rs750276919	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,mortality/aging	Developmental dyslexia ,Potential protein deficiency|Polyglucosan body disease, relapsing-remitting form|Polyglucosan body disease, adult|Lethal multiple pterygium syndrome|Glycogen storage disease 4, non-lethal neuromuscular|Glycogen storage disease 4, neonatal|Glycogen storage disease 4|Autism spectrum disorder|Adult polyglucosan body disease	ICGC,
chr16	85466847	85466847	C	T	intergenic	MIR5093,GSE1	unknown	SNV	-	-	-	3.232e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,hematopoietic system phenotype	-,-	ICGC,
chr21	22270023	22270023	A	C	intergenic	LINC00320,NCAM2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,taste/olfaction phenotype	-,-	ICGC,
chr4	40407230	40407230	G	A	intergenic	CHRNA9,RBM47	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype,-	Increased bronchial cell proliferation and transformation,-	ICGC,
chr14	100314337	100314337	T	C	intronic	EML1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	-	ICGC,
chr12	90954509	90954509	C	T	intergenic	LINC00936,LINC00615	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr7	115755947	115755947	C	T	intergenic	TFEC,TES	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype,digestive/alimentary phenotype	-,-	ICGC,
chr13	32027870	32027870	C	T	intergenic	B3GALTL,RXFP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	Peters-Plus syndrome,Cryptorchidism 	ICGC,
chr9	4245848	4245848	C	T	intronic	GLIS3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Diabetes, permanent neonatal|Diabetes, type 1, resistance to|Neonatal diabetes & congenital hypothyroidism|Neural tube defects	ICGC,
chr5	129661490	129661490	G	A	intergenic	CHSY3,HINT1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16433071	-	LIRI-JP|1|258|0.00388	-	-	-,cellular phenotype	-,Axonal neuropathy with neuromyotonia	COSMIC,ICGC,
chr2	110009935	110009935	A	G	intronic	SH3RF3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chrX	12738268	12738268	A	G	intronic	FRMPD4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Mental retardation, X-linked	ICGC,
chr1	248036890	248036890	G	A	intronic	TRIM58	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Red blood cell count, association with	ICGC,
chr8	106076765	106076765	T	C	intergenic	LRP12,ZFPM2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Atrial septal defect & gonadal dysgenesis|Diaphragmatic hernia, congenital|Double outlet right ventricle |Gonadal dysgenesis |Reduced activity|Tetralogy of Fallot 	ICGC,
chr7	22270611	22270611	C	T	intronic	RAPGEF5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493,SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr2	228869845	228869845	G	A	intronic	SPHKAP	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr3	38143174	38143174	C	T	intronic	DLEC1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-	-	ICGC,
chr5	24020728	24020728	T	A	intergenic	PRDM9,CDH10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	reproductive system phenotype,-	Altered meiotic recombination hotspot usage|Azoospermia by meiotic arrest, association with |Azoospermia, non-obstructive ,-	ICGC,
chr4	167662483	167662483	G	A	intronic	SPOCK3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr8	75740190	75740190	A	T	intronic	PI15	unknown	SNV	-	-	-	0.3021	rs17292417	-	0.234625	-	0.268	-	-	ESAD-UK|1|301|0.00332	-	-	-	Schizophrenia	ICGC,
chr14	38800850	38800850	G	C	intergenic	CLEC14A,LINC00639	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1646699	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr7	126786193	126786193	G	A	intronic	GRM8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	behavior/neurological phenotype	Attention deficit hyperactivity disorder|Autism spectrum disorder  	ICGC,
chr5	39245247	39245247	-	A	intronic	FYB	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	hematopoietic system phenotype	-	ICGC,
chr12	108354667	108354667	C	T	intergenic	LOC728739,WSCD2	unknown	SNV	-	-	-	0.0122	rs80224002	-	0.0509185	-	0.029	-	-	LAML-KR|1|205|0.00488	-	-	-,-	-,-	ICGC,
chr11	102661161	102661161	G	C	exonic	MMP1	nonsynonymous	SNV	0.942	0.052	-	-	-	-	-	-	-	COSM5785490	-	BRCA-EU|1|569|0.00176	-	-	-	Oral submucous fibrosis, increased risk |Pelvic organ prolapse, association with.|Periodontitis, susceptibility to|Potential protein deficiency|Preterm premature rupture of membranes, protection, association|Response to smoking|Rheumatoid arthritis, association with|Thoracic aortic aneurysm, smaller diameter|Tuberculosis-related hyperinflammation|Oesophageal adenocarcinoma, increased risk, association with|Lung cancer, development & progression, association with|Lower body mass index, association with |Chronic kidney disease, association with|Colorectal cancer risk, association with|Decreased MMP1 serum levels in rheumatoid arthritis|Dystrophic epidermolysis bullosa, severity|Endometrial hyperplasia, association with|Glioblastoma multiforme, increased risk, association with|Hypophyseal adenoma, association with|Idiopathic disseminated bronchiectasis|Increased risk of renal cell carcinoma, association with 	COSMIC,ICGC,
chr6	140689016	140689016	C	T	intergenic	MIR3668,MIR4465	unknown	SNV	-	-	-	0	-	-	-	-	-	COSN20509225	-	COCA-CN|1|321|0.00312,BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,COSMIC,ICGC,
chr14	31762756	31762756	G	A	exonic	HEATR5A	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM4689814	-	-	-	-	-	-	COSMIC,COSMIC,
chr5	59291353	59291353	G	A	intronic	PDE4D	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Psychomotor retardation, coarse facies & ocular anomalies|Intellectual disability syndrome with low body mass index & facial features|Acrodysostosis	ICGC,
chr21	25272891	25272891	G	A	intergenic	D21S2088E,LOC101927869	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr5	100969521	100969521	C	T	intergenic	ST8SIA4,SLCO4C1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15191688	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	-,-	COSMIC,ICGC,
chr8	89401255	89401255	T	-	intergenic	MMP16,RIPK2	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,hematopoietic system phenotype	-,Autism spectrum disorder	ICGC,
chr5	157485333	157485333	T	A	intergenic	CLINT1,LOC101927697	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9414124	-	OV-AU|1|93|0.01075	-	-	-,-	-,-	COSMIC,ICGC,
chr9	110987523	110987523	T	C	intergenic	KLF4,ACTL7B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,-	-,Schizophrenia	ICGC,
chr3	131082489	131082489	A	C	ncRNA_exonic	NUDT16P1	unknown	SNV	-	-	-	0.1140	rs3749392	-	0.14996	-	0.167	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr4	81510525	81510525	G	A	intronic	C4orf22	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr20	53955772	53955772	C	T	intergenic	DOK5,LINC01441	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19718962	-	COCA-CN|1|321|0.00312	-	-	-,-	-,-	COSMIC,ICGC,
chr19	31299906	31299906	C	T	intergenic	ZNF536,TSHZ3	unknown	SNV	-	-	-	0.0001	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,integument phenotype	Schizophrenia,-	ICGC,
chr9	101330609	101330609	G	A	intronic	GABBR2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	-	ICGC,
chr1	91843333	91843333	G	A	intronic	HFM1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	Primary ovarian insufficiency	ICGC,
chr11	9148035	9148035	A	C	intergenic	KRT8P41,DENND5A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22277267	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,Autism	COSMIC,ICGC,
chr3	9101963	9101963	G	C	exonic	SRGAP3	nonsynonymous	SNV	0.001	0.999	-	-	-	-	-	-	-	COSM4862834	LUSC|1|178|0.00562	LUSC-US|1|194|0.00515	-	-	behavior/neurological phenotype	SLIT-ROBO gap 3 deficiency|Schizophrenia, childhood onset with psychotic illness|Schizophrenia, childhood onset |Mental retardation|Intellectual disability  |Autism	COSMIC,COSMIC,TCGA,ICGC,
chr18	27298924	27298924	G	A	intergenic	CDH2,MIR302F	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325,MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Reduced expression|Potential protein deficiency|Alzheimer disease  ,-	ICGC,
chr4	80140370	80140370	A	G	ncRNA_intronic	LINC01088	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	-	ICGC,
chr18	65409908	65409908	G	A	ncRNA_intronic	LOC643542	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr15	97985350	97985350	-	GGTG	ncRNA_intronic	LOC101927286	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	-	ICGC,
chr8	62656140	62656140	G	C	intergenic	MIR4470,NKAIN3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,Dravet syndrome   	ICGC,
chr2	125555851	125555851	C	T	exonic	CNTNAP5	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM3836739	BRCA|1|982|0.00102	BRCA-US|1|955|0.00105	-	-	-	Autism	COSMIC,TCGA,ICGC,
chr10	89255799	89255799	T	C	intergenic	LINC00864,MIR4678	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr9	22128717	22128717	G	A	intergenic	CDKN2B-AS1,DMRTA1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,taste/olfaction phenotype	Stroke, association with|Coronary artery disease, association with,-	ICGC,
chr2	193255626	193255626	A	G	intergenic	TMEFF2,PCGEM1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15744703	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging,-	-,-	COSMIC,ICGC,
chr20	23121575	23121575	C	T	intergenic	LINC00656,NXT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	-,-	-,-	ICGC,
chr14	86203139	86203139	G	A	intergenic	FLRT2,LOC101928767	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-UK|1|140|0.00714	-	-	mortality/aging,-	-,-	ICGC,
chr8	85423652	85423652	T	G	intronic	RALYL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-	-	ICGC,
chr5	142611140	142611141	CG	-	intergenic	ARHGAP26,NR3C1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	-,integument phenotype	-,Polycythemia vera, association with|Primary myelofibrosis, susceptibility to|Recurrent major depression|Reduced insulin and cholesterol levels, association|Reduced promoter activity|Reduced protein expression|Reduced transcriptional activity|Rheumatoid arthritis, association with|Rheumatoid arthritis, erosive, association with|Rheumatoid arthritis, lower risk|Systemic lupus erythematosus, association with |Multiple sclerosis severity, association with|Maternal stress, association with|Lupus nephritis|Altered glucocorticoid sensitivity|Blood pressure|Bronchial asthma, association with|Depression, association with|Depression, with childhood adversity, association with.|Diabetes, type 2, decreased risk in Cushing's syndrome|Diamond Blackfan Anaemia, association with |Glucocorticoid receptor deficiency|Glucocorticoid resistance|Increased glucocorticoid sensitivity|Lower BMI & waist circumference, association with	ICGC,
chr7	57551901	57551901	G	A	intergenic	ZNF716,NONE	unknown	SNV	-	-	-	5.993e-05	rs56084714	-	-	-	-	COSN24543280	-	COCA-CN|1|321|0.00312,GACA-CN|3|123|0.02439,SKCA-BR|1|100|0.01000,LUSC-KR|6|170|0.03529	-	-	-,-	-,-	COSMIC,COSMIC,COSMIC,ICGC,
chr7	109200333	109200333	T	A	intergenic	C7orf66,EIF3IP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr5	162545748	162545748	C	T	intergenic	GABRG2,CCNG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging,mortality/aging	Seizures, generalized tonic-clonic|Myoclonic epilepsy of infancy |Generalized epilepsy with febrile seizures plus|Febrile seizures|Epilepsy, susceptibility to|Epilepsy, idiopathic generalised  |Epilepsy, childhood absence with febrile seizures|Dravet syndrome,-	ICGC,
chr21	39976105	39976105	G	A	intronic	ERG	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	-	ICGC,
chr10	9809239	9809239	G	A	intergenic	LOC101928272,LOC101928298	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	30335352	30335352	T	G	intergenic	LOC101928460,LOC101929406	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr6	64340194	64340194	T	A	intergenic	PTP4A1,PHF3	unknown	SNV	-	-	-	3.231e-05	-	-	-	-	-	COSN27619832	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,Autism	COSMIC,ICGC,
chr7	141961426	141961426	C	T	intergenic	PRSS58,TRY2P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr18	64674914	64674914	G	A	intergenic	CDH19,MIR5011	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Tetralogy of Fallot,-	ICGC,
chr4	164240796	164240796	G	A	intergenic	NAF1,NPY1R	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,integument phenotype	-,Blood pressure variation, association with	ICGC,
chr9	98323807	98323807	C	T	intergenic	PTCH1,LINC00476	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22643009	-	BRCA-EU|1|569|0.00176	-	-	integument phenotype,-	Multiple self-healing squamous epithelioma, modifer of|Nevoid basal cell carcinoma syndrome|Nevoid basal cell carcinoma syndrome features, pulmonary valve stenosis & mental retardation|Odontogenic keratocysts|Ossification of posterior longitudinal ligament|Short stature, intellectual disability & facial dysmorphism|Skin cancer, association with|Multiple basal cell carcinoma |Microcephaly and developmental delay  |Keratocystic odontogenic tumours, non-syndromic|Keratocystic odontogenic tumours|Holoprosencephaly|Gorlin-syndrome-related odontogenic keratocysts|Gorlin syndrome and autism|Gorlin syndrome|Congenital heart disease |Basal cell carcinoma,-	COSMIC,ICGC,
chr4	186554238	186554238	T	C	intronic	SORBS2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23624046	-	ESAD-UK|1|301|0.00332	-	-	-	Schizophrenia	COSMIC,ICGC,
chr6	54637360	54637360	A	G	intergenic	TINAG,FAM83B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	Chronic renal failure, childhood-onset,-	ICGC,
chr8	64369773	64369773	C	T	intergenic	YTHDF3,LINC01289	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr16	69947243	69947243	-	T	intronic	WWP2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-	-	ICGC,
chr13	93857164	93857164	T	C	intergenic	GPC5,GPC6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	Spina bifida  ,Omodysplasia|Pancreatic cancer 	ICGC,
chr4	164591511	164591511	-	ATCT	intronic	MARCH1	unknown	insertion	-	-	-	0.1027	rs34676660	-	0.0373403	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	hematopoietic system phenotype	-	ICGC,
chr16	2218133	2218133	C	T	exonic	TRAF7	synonymous	SNV	-	-	1.231e-05	-	rs777048598	1.728e-05	-	-	-	-	HNSC|1|512|0.00195	-	-	-	-	Autism	TCGA,
chr1	20148679	20148679	T	C	intergenic	RNF186,OTUD3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1426586	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr15	94975281	94975281	C	T	intronic	MCTP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Coarctation of the aorta |Coarctation of the aorta and hypoplastic left heart syndrome 	ICGC,
chr14	79635699	79635699	C	T	intronic	NRXN3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging	Alcohol dependence, association with|Autism spectrum disorder  	ICGC,
chr6	93857204	93857204	G	A	intergenic	CASC6,EPHA7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,nervous system phenotype	-,Development delay and dysmorphic features|Leukemia, risk, association with 	ICGC,
chr3	50833018	50833018	G	A	intronic	DOCK3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	immune system phenotype	Attention deficit hyperactivity disorder	ICGC,
chr5	59445774	59445774	A	G	intronic	PDE4D	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	mortality/aging	Psychomotor retardation, coarse facies & ocular anomalies|Intellectual disability syndrome with low body mass index & facial features|Acrodysostosis	ICGC,
chr8	112371909	112371909	C	A	intergenic	KCNV1,CSMD3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9251916	-	RECA-EU|1|422|0.00237	-	-	behavior/neurological phenotype,-	-,Schizophrenia  |Colorectal cancer 	COSMIC,ICGC,
chr7	36132572	36132572	G	A	intergenic	SEPT7,LOC101928618	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr5	62024319	62024319	-	A	intergenic	IPO11,HTR1A	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,Tourette syndrome |Reduced expression|Personality disorders, association with.|Menstrual cycle-dependent fever|Major depression and suicide, association with|Major depression|Impulsive behaviour, association with|Epileptic seizures |Comorbid depression and generalized anxiety, association with|Attenuated agonist-mediated receptor down-regulation and desensitization	ICGC,
chr3	191422104	191422104	A	C	intergenic	LINCR-0002,FGF12	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,behavior/neurological phenotype	-,-	ICGC,
chr21	36832882	36832882	G	A	ncRNA_intronic	LOC100506403	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	-	ICGC,
chr8	72460594	72460594	G	A	intergenic	EYA1,MSC	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19177831	-	CLLE-ES|1|510|0.00196	-	-	mortality/aging,mortality/aging	Oto-facio-cervical syndrome|Peters' anomaly with cataracts|Renal hypodysplasia|Renal malformation|Ureteropelvic junction obstruction and reduced renal function|Iris anomaly|Hearing loss?|Deafness  |Cayler's cardiofacial syndrome|Cataract, autosomal dominant|Branchio-oto-renal syndrome|Branchio-oto-renal / branchiootic syndrome|Branchio-otic syndrome,-	COSMIC,ICGC,
chr1	173373789	173373789	T	-	ncRNA_intronic	LOC100506023	unknown	deletion	-	-	-	-	-	-	-	-	0.188	-	-	LMS-FR|1|67|0.01493	-	-	-	-	ICGC,
chr15	24625287	24625287	T	G	intergenic	PWRN2,PWRN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr9	93199669	93199669	C	T	intergenic	LOC101927873,LOC340515	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	69583626	69583626	A	G	splicing	GFPT1	splicing	SNV	-	-	-	-	-	-	-	-	-	COSM3731457	-	-	-	-	-	Congenital myasthenic syndrome, limb-girdle |Diabetes, type 2, association with|Obesity, association with|Reduced promoter actiivity	COSMIC,COSMIC,
chr22	23231270	23231270	G	A	intronic	IGLL5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25459411	-	MALY-DE|1|241|0.00415	-	-	-	-	COSMIC,ICGC,
chr15	101894188	101894188	T	C	intronic	PCSK6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Handedness, association with	ICGC,
chrX	7312252	7312252	C	T	intergenic	STS,VCX	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20789643	-	BRCA-EU|1|569|0.00176	-	-	-,-	Nephrotic syndrome and ichthyosis.|Increased transcriptional activity|Ichthyosis, with mental retardation|Ichthyosis, developmental delay, absent speech & autistic features|Ichthyosis with autistic spectrum disorder|Ichthyosis|Decreased transcriptional activity|Corneal dystrophy, pre-Descemet|Attention deficit hyperactivity disorder, association with|Nephrotic syndrome with ichthyosis,-	COSMIC,ICGC,
chr5	104154298	104154298	A	G	intergenic	NUDT12,RAB9BP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr6	103721715	103721715	C	T	intergenic	GRIK2,HACE1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	behavior/neurological phenotype,tumorigenesis	Mental retardation, non-syndromic, autosomal recessive,Wilms tumour 	ICGC,
chr21	35105037	35105037	G	A	intronic	ITSN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	mortality/aging	Developmental delay  |Schizophrenia	ICGC,
chr12	34807896	34807896	C	T	intergenic	ALG10,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr13	111776631	111776631	C	T	intronic	ARHGEF7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	Altered p53 binding	ICGC,
chr7	11283492	11283492	G	A	intergenic	PHF14,THSD7A	unknown	SNV	-	-	-	0.3124	rs62438729	-	0.240615	-	0.225	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	-,Autism 	ICGC,
chr21	22491887	22491887	-	CA	intronic	NCAM2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|6|67|0.08955	-	-	taste/olfaction phenotype	-	ICGC,
chr12	41920309	41920309	C	T	intronic	PDZRN4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-	-	ICGC,
chr7	15341973	15341973	T	G	intronic	AGMO	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr6	86435017	86435017	C	T	intergenic	SNHG5,HTR1E	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	182148792	182148792	G	A	intergenic	LINC00290,MGC45800	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr9	130196732	130196732	C	T	intronic	ZNF79	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9700550	-	OV-AU|1|93|0.01075	-	-	-	Autism spectrum disorder	COSMIC,ICGC,
chr2	212569446	212569446	C	T	intronic	ERBB4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Schizophrenia |Oligohydramnios|Intellectual disability, hyperactivity & speech developmental delay|Increased promoter activity|Hepatocellular carcinoma, increased risk, association with|Epileptic encephalopathy, early infantile 3|Breast and colorectal cancer, association with|Bipolar disorder, association with |Bipolar disorder |Autism spectrum disorder  |Amyotrophic lateral sclerosis type 19	ICGC,
chr16	60192269	60192269	G	A	intergenic	LOC101927580,LOC729159	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8234551	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	COSMIC,ICGC,
chr4	176190992	176190992	C	A	intergenic	ADAM29,GPM6A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9018003	-	OV-AU|1|93|0.01075	-	-	-,reproductive system phenotype	-,Claustrophobia, association with	COSMIC,COSMIC,COSMIC,ICGC,
chr4	22490446	22490446	T	G	intronic	GPR125	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	normal phenotype	Retinitis pigmentosa	ICGC,
chr18	52365186	52365186	A	G	intergenic	DYNAP,RAB27B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16307887	-	LIRI-JP|1|258|0.00388	-	-	-,integument phenotype	-,-	COSMIC,ICGC,
chr4	75227382	75227382	T	C	intergenic	EPGN,EREG	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,-	ICGC,
chr5	83517646	83517646	G	A	intronic	EDIL3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	immune system phenotype	Schizophrenia  	ICGC,
chr7	68822425	68822425	G	A	intergenic	LOC102723427,LOC100507468	unknown	SNV	-	-	-	3.24e-05	-	-	-	-	-	COSN20525450	-	COCA-CN|1|321|0.00312	-	-	-,-	-,-	COSMIC,ICGC,
chr19	30327245	30327245	C	T	intergenic	CCNE1,URI1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	integument phenotype,-	Nasopharyngeal carcinoma, increased risk, association with,-	ICGC,
chr1	151311894	151311894	A	-	intergenic	PI4KB,RFX5	unknown	deletion	-	-	-	0.0001	-	-	-	-	-	-	-	LINC-JP|1|394|0.00254,BRCA-EU|1|569|0.00176,LIRI-JP|1|258|0.00388	-	-	-,hematopoietic system phenotype	-,Bare lymphocyte syndrome	ICGC,
chr6	162656658	162656658	C	T	intronic	PARK2	unknown	SNV	-	-	-	0.0005	rs559616766	-	-	-	-	COSN24609316	-	GACA-CN|1|123|0.00813,MALY-DE|1|241|0.00415	-	-	integument phenotype	Parkinson disease, decreased risk|Parkinson disease, early-onset|Parkinson disease, early-onset.|Parkinson disease, familial|Parkinson disease, familial, association with |Parkinson disease, idiopathic|Parkinson disease, in heterozygosity, association|Parkinson disease, late-onset|Parkinson disease, sporadic, reduced risk|Parkinson disease.|Parkinsonism, juvenile, autosomal recessive|Parkinsonism, late-onset, association with|Rolandic epilepsy |Parkinson disease, autosomal recessive|Parkinson disease, association with|Parkinson disease with resting leg tremor|Attention deficit hyperactivity disorder |Autism spectrum disorder|Cervical artery dissection|Dementia with Lewy bodies|Developmental delay  |Dystonia, dopa-responsive|Leprosy, association with|Lewy bodies|Lung adenocarcinoma   |Multiple system atrophy, cerebellar subtype|Parkinson disease|Parkinson disease with dementia.|Parkinson disease with Lewy bodies	COSMIC,ICGC,
chr8	35104475	35104475	G	A	intronic	UNC5D	unknown	SNV	-	-	-	-	rs571926818	-	0.000199681	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr6	33928593	33928593	G	T	intergenic	MIR7159,MIR1275	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6318975	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr2	228478255	228478255	C	T	intronic	C2orf83	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr2	229733443	229733443	A	C	intergenic	SPHKAP,PID1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,Anorectal malformation	ICGC,
chr5	27736248	27736248	A	C	intergenic	LINC01021,LSP1P3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr20	39666686	39666699	ATTGCCCTCAGTAT	-	intronic	TOP1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	mortality/aging	Autism	ICGC,
chr5	71298610	71298610	G	A	intergenic	CARTPT,MAP1B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	hematopoietic system phenotype,integument phenotype	Obesity, association with |Obesity, severe,-	ICGC,
chr14	48704592	48704592	T	G	intergenic	LINC00648,RPS29	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-JP|1|585|0.00171	-	-	-,-	-,-	ICGC,
chr11	40335396	40335396	C	T	intronic	LRRC4C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-	-	ICGC,
chr11	114866292	114866292	G	A	intergenic	NXPE2,CADM1	unknown	SNV	-	-	-	3.266e-05	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,hematopoietic system phenotype	-,Autism spectrum disorder	ICGC,
chr4	14701399	14701399	T	C	intergenic	LINC01085,CPEB2-AS1	unknown	SNV	-	-	-	0.0201	rs116198744	-	0.0113818	-	0.022	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr6	92503277	92503277	G	A	intergenic	CASC6,EPHA7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,nervous system phenotype	-,Development delay and dysmorphic features|Leukemia, risk, association with 	ICGC,
chr4	62581002	62581002	A	T	intronic	LPHN3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	-	ICGC,
chr5	64629522	64629522	A	T	intronic	ADAMTS6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Schizophrenia	ICGC,
chr2	118094121	118094121	A	T	intergenic	DPP10,DDX18	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15773676	-	LIRI-JP|1|258|0.00388	-	-	-,-	Autism spectrum disorder,-	COSMIC,ICGC,
chr3	177991982	177991982	C	A	intergenic	LOC102724550,LINC01014	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5000862	-	-	-	-	-,-	-,-	COSMIC,
chr3	154556922	154556922	G	A	intergenic	GPR149,MME	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	reproductive system phenotype,integument phenotype	-,Alzheimer disease, association with|Anxiety, association with|Cerebral amyloid angiopathy, severity, association with|Fetomaternal alloimmunisation|Increased enzyme activity|Reduced enzyme activity	ICGC,
chr12	103437768	103437768	G	A	intergenic	ASCL1,C12orf42	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Central hypoventilation syndrome|Intellectual disability  |Parkinson disease, protection against ,-	ICGC,
chr20	46571411	46571411	G	A	intergenic	SULF2,LOC101927457	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Schizophrenia,-	ICGC,
chr9	122280581	122280581	C	T	intergenic	BRINP1,MIR147A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	148485377	148485377	C	T	intergenic	AGTR1,CPB1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Hypertrophic cardiomyopathy, association with|Increased left ventricular mass, association with|Myocardial infarction, acute, association with|Potential protein deficiency|Preeclampsia, association with|Reduced function|Renal tubular dysgenesis|Right coronary artery in STEM1, association with|Severe chronic periodontitis, association with|Hypertension, association with.|Hypertension, association with|Friedreich ataxia, modifier of|Acromegaly, association with|Atrial fibrillation, association with|Benign prostatic hyperplasia, association with|Blood pressure variation in response to potassium, association with|Body mass index, association with|Breast cancer, reduced risk|Carotid intima-media thickness, association with|Chronic kidney disease, association with|Diastolic heart failure, increased risk, association with,-	ICGC,
chr8	4119868	4119868	C	T	intronic	CSMD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Schizophrenia, association with |Hyperinsulinism|Autism|Attention deficit hyperactivity disorder 	ICGC,
chr8	57563750	57563750	T	A	intergenic	LINC00968,IMPAD1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9265656	-	RECA-EU|1|422|0.00237	-	-	-,mortality/aging	-,Catel-Manzke-like syndrome|Chondrodysplasia & abnormal joint development	COSMIC,ICGC,
chr4	9120690	9120690	G	A	intergenic	LOC650293,USP17L10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|3|100|0.03000	-	-	-,-	-,-	ICGC,
chr2	155910181	155910181	C	A	intergenic	KCNJ3,AC093375.1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	cardiovascular system phenotype,-	Schizophrenia, association with  ,-	ICGC,
chr15	71418273	71418273	T	G	intergenic	CT62,THSD4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1179679	-	LINC-JP|1|394|0.00254	-	-	-,-	-,-	COSMIC,ICGC,
chr13	43707463	43707463	-	T	ncRNA_intronic	LINC00400	unknown	insertion	-	-	-	3.233e-05	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	-	ICGC,
chrX	42239248	42239248	G	A	intergenic	CASK,PPP1R2P9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Autism |Pontocerebellar hypoplasia 3 with early myoclonic epilepsy and tetralogy of Fallot|Pontocerebellar hypoplasia 2|Opitz-Kaveggia syndrome|Ohtahara syndrome & cerebellar hypoplasia|Nystagmus  |Microcephaly, mental retardation, brainstem & cerebellar hypoplasia|Mental retardation, X-linked |Mental retardation, nystagmus & microcephaly|Mental retardation, microcephaly & pontocerebellar hypoplasia|Autism spectrum disorder|Epilepsy & pontocerebellar hypoplasia|Intellectual disability & microcephaly with pontine & cerebellar hypoplasia|Intellectual disability, microcephaly, pontocerebellar hypoplasia|Mental retardation & microcephaly with pontine & cerebellar hypoplasia|Mental retardation & nystagmus,-	ICGC,
chr9	90827493	90827493	A	T	intergenic	SPATA31C2,SPIN1	unknown	SNV	-	-	-	0.0002	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	ICGC,
chr7	48949767	48949767	G	A	intergenic	ABCA13,CDC14C	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19429257	-	-	-	-	-,-	Schizophrenia / depression|Schizophrenia / bipolar disorder / depression |Schizophrenia  |Bipolar disorder  |Autism|Anorectal malformation,-	COSMIC,
chr8	41094412	41094412	T	G	intergenic	ZMAT4,SFRP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,Intellectual and developmental disabilities	ICGC,
chr7	19821599	19821599	C	T	intergenic	TMEM196,LOC101927668	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr10	95034544	95034544	G	A	intergenic	CYP26A1,MYOF	unknown	SNV	-	-	-	6.46e-05	rs528373587	-	0.000199681	-	-	COSN7075570	-	PACA-AU|1|391|0.00256	-	-	mortality/aging,cardiovascular system phenotype	Altered enzyme activity|Reduced mRNA splicing efficiency,Schizophrenia|Autism	COSMIC,ICGC,
chr2	1505595	1505595	G	A	intronic	TPO	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6678046	-	LICA-FR|1|252|0.00397	-	-	mortality/aging	Total iodide organification defect|Thyroid peroxidase deficiency|Thyroid dyshormonogenesis|Partial iodide organification defect|Intellectual disability  |Hypothyroidism.|Hypothyroidism, association with |Hypothyroidism|Goitrous hypothyroidism.|Goitrous hypothyroidism|Goitre|Foetal hyperthyroidism	COSMIC,ICGC,
chr15	20146826	20146826	G	A	intergenic	NONE,CHEK2P2	unknown	SNV	-	-	-	3.229e-05	-	-	-	-	-	COSN1669293	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr1	201804313	201804313	C	T	intronic	IPO9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	-	ICGC,
chr22	38229592	38229593	CA	-	intronic	ANKRD54	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	GACA-JP|1|585|0.00171	-	-	-	-	ICGC,
chr11	8016018	8016018	G	A	exonic	EIF3F	synonymous	SNV	-	-	2.032e-05	-	rs758431097	1.698e-05	-	-	-	-	BLCA|1|396|0.00253	RECA-EU|1|422|0.00237	-	-	-	-	TCGA,ICGC,
chr6	139055168	139055168	-	A	intronic	LOC100507462	unknown	insertion	-	-	-	0.0877	rs398085346	-	0.105032	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr1	50579215	50579215	C	A	intronic	ELAVL4	unknown	SNV	-	-	-	0.0028	rs189935216	-	0.00179712	-	-	-	-	PACA-CA|1|268|0.00373	-	-	mortality/aging	-	ICGC,
chr10	108439065	108439065	G	A	exonic	SORCS1	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM1345720	COAD|1|367|0.00272,COADREAD|1|489|0.00204	COAD-US|1|254|0.00394	-	-	other phenotype	Autism 	COSMIC,COSMIC,TCGA,ICGC,
chr11	116716810	116716810	G	A	intronic	SIK3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN14501725	-	PACA-AU|1|391|0.00256	-	-	integument phenotype	-	COSMIC,ICGC,
chr3	188806147	188806147	C	T	intergenic	TPRG1-AS1,TPRG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr14	86734653	86734653	T	G	intergenic	LOC101928767,LOC283585	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr19	1160372	1160372	G	A	intronic	SBNO2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23658068	-	ESAD-UK|1|301|0.00332	-	-	-	-	COSMIC,ICGC,
chr6	140034970	140034970	C	T	intergenic	LOC645434,LOC100132735	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr16	52543092	52543092	G	A	intronic	TOX3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	Tumour subtype, in BRCA1 mutation carriers, association with.|Breast cancer, association with	ICGC,
chr1	38556777	38556777	G	A	intergenic	MIR3659,LINC01343	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr18	63038759	63038759	G	A	intergenic	LOC284294,CDH7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr15	91778005	91778005	CC	TT	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr4	112135808	112135808	G	A	intergenic	PITX2,C4orf32	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Ring dermoid of the cornea|Rieger syndrome|Peter anomaly|Omphalocele, association with |Omphalocele|Iris hypoplasia|Iridogoniodysgenesis syndrome|Craniofacial/acallosal CNS midline defects|Axenfeld-Rieger syndrome|Anterior segment dysgenesis,-	ICGC,
chr11	110629684	110629684	C	T	intergenic	ARHGAP20,C11orf53	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr19	50155917	50155918	CT	-	exonic	SCAF1	frameshift	deletion	-	-	-	-	-	-	-	-	-	-	GBM|1|290|0.00345,GBMLGG|2|820|0.00244,LGG|1|530|0.00189,LUAD|1|543|0.00184,SKCM|1|368|0.00272,THCA|1|504|0.00198	-	-	-	-	-	TCGA,
chr6	117335175	117335175	G	A	intergenic	RFX6,VGLL2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Diabetes, neonatal, with intestinal atresia|Prostate cancer, susceptibility to ,-	ICGC,
chr2	80506987	80506987	T	A	intronic	CTNNA2	unknown	SNV	-	-	-	0.0003	-	-	-	-	-	COSN23504700	-	ESAD-UK|1|301|0.00332,MALY-DE|1|241|0.00415	-	-	mortality/aging	Schizophrenia	COSMIC,ICGC,
chr2	220144591	220144591	A	T	exonic	DNAJB2	synonymous	SNV	-	-	-	-	-	-	-	-	-	-	HNSC|1|512|0.00195	-	-	-	-	Neuropathy, distal hereditary motor|Peripheral neuropathy  	TCGA,
chr3	160738800	160738800	A	G	intronic	PPM1L	unknown	SNV	-	-	-	0.3440	rs7610432	-	0.402556	-	0.341	-	-	LAML-KR|2|205|0.00976	-	-	cardiovascular system phenotype	-	ICGC,
chr12	6165458	6165458	-	TCCAGCCACCCAAGGGACCAGAGAGTGGGAGC	intronic	VWF	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging	Von Willebrand disease 2m|Von Willebrand disease 2c|Von Willebrand disease 2b-like|Von Willebrand disease 2b|Von Willebrand disease 2a/e|Von Willebrand disease 2a/b|Von Willebrand disease 2a/2c|Von Willebrand disease 2a.|Von Willebrand disease 2a & 2m|Von Willebrand disease 2n|Von Willebrand disease 2n/1|Von Willebrand disease 2u|VWF type 2M|VWF type 2B|VWF type 2A|VWD type 2A|Von Willebrand, Normandy variant|Von Willebrand disease, quantitative type, association with|Von Willebrand disease, association with|Von Willebrand disease 3.|Von Willebrand disease 3|Von Willebrand disease 2a & 1|Von Willebrand disease 2a|Proteolysis by ADAMTS13, susceptibility to|Increased VWF antigen levels, association with |Increased protein cleavage by ADAMTS13|Increased affinity for GPIb alpha|Haemolytic uraemic syndrome, atypical.|Haemolytic uraemic syndrome, atypical|Defective collagen binding|Cryptogenic stroke|Altered VWF antigen/FVIII coagulant activity|Reduced maximum creatinine levels, association with.|Reduced protein cleavage by ADAMTS13|Von Willebrand disease 2|Von Willebrand disease 1/2M|Von Willebrand disease 1.|Von Willebrand disease 1, 2a & 2m|Von Willebrand disease 1|Von Willebrand disease|Venous thrombosis, increased risk|Reduced vWF plasma protein levels|Reduced VWF and FVIII levels|Altered ristocetin-induced platelet aggregation	ICGC,
chr5	19759541	19759541	T	A	intronic	CDH18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	Anorectal malformation	ICGC,
chr3	178001969	178001969	T	C	intergenic	LOC102724550,LINC01014	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BOCA-FR|1|98|0.01020	-	-	-,-	-,-	ICGC,
chr12	54849776	54849776	G	A	ncRNA_intronic	LOC102724050	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	-	ICGC,
chr10	1215286	1215286	G	A	intergenic	LINC00200,ADARB2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	-,-	ICGC,
chr2	50647571	50647571	G	A	intronic	NRXN1	unknown	SNV	-	-	-	3.28e-05	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	mortality/aging	Hypotonia|Hypotonia & encephalopathy|Increased white matter volume, association with|Intellectual disability  |Intellectual disability & attention deficit hyperactivity disorder|Intellectual disability & hearing loss|Intellectual disability & pervasive developmental disorder|Intellectual disability and autism|Intellectual disability, nonsyndromic |Intellectual disability, seizures, dysmorphisms & language delay|Growth retardation  |Epilepsy, myoclonic seizures & speech delay|Developmental disorder|Developmental disorder & attention deficit hyperactivity disorder|Developmental disorder, seizures & attention deficit hyperactivity disorder|Developmental/intellectual disability, hypotonia & dysmorphic features|Disorder of muscle, ligament & fascia|Encephalopathy  |Epilepsy  |Epilepsy with cognitive impairment / autism spectrum disorder|Epilepsy with focal seizures|Epilepsy, generalised |Intellectual disability, seizures, language delay & hypotonia|Language delay|Learning difficulties|Respiratory distress & sepsis|Respiratory distress syndrome|Schizophrenia |Schizophrenia, childhood onset |Schizophrenia, disorganised type|Seizures, generalized tonic-clonic & attention deficit hyperactivity disorder|Sensory integration disorder & attention deficit hyperactivity disorder|Speech delay & social communication difficulties|Tourette syndrome|Pervasive developmental disorder / hypotonia|Pervasive developmental disorder|Pervasive developmental delay / mental retardation, lack of coordination & hearing loss|Learning difficulties, ADHD & autism|Mental retardation|Mental retardation, autism, vertebral malformations|Mental retardation, Pitt-Hopkins-like|Microcephaly & mental retardation|Multiple congenital anomalies  |Multiple disabilities|Myoclonic epilepsy   |Neurodevelopmental disorder  |Vertebral anomalies|Developmental delay, speech delay & social communication difficulties|Attention deficit hyperactivity disorder |Autism spectrum disorder, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability & language delay|Autism spectrum disorder, intellectual disability, dysmorphisms, developmental delay & language delay|Autism spectrum disorder, intellectual disability, seizures & developmental delay|Autism spectrum disorder, intellectual disability, seizures, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability, seizures, dysmorphisms & language delay|Autism spectrum disorder, seizures, developmental delay & language delay|Autism, intellectual disability & attention deficit hyperactivity disorder|Autistic disorder|Autism spectrum disorder with developmental & speech delay|Autism spectrum disorder & seizures|Autism spectrum disorder & language delay|Autism |Autism & learning difficulties|Autism & mental retardation|Autism & seizures|Autism spectrum disorder|Autism spectrum disorder & attention deficit hyperactivity disorder|Autism spectrum disorder & developmental delay|Autism spectrum disorder & dysmorphic features|Autism spectrum disorder & intellectual disability|Behavioural problems|Congenital heart defect  |Craniofacial dysmorphism|Developmental delay & speech/motor delay|Developmental delay with early-onset epilepsy|Developmental delay, dysmorphic features & short stature|Developmental delay, epilepsy, autism|Developmental delay, language delay & hypotonia|Developmental delay, learning difficulties, ADHD|Developmental delay, microcephaly & behavioural problems|Developmental delay, pulmonic stenosis & autism spectrum disorder|Developmental delay, short stature and diaphragmatic hernia|Developmental delay, speech delay & microcephaly|Developmental delay & seizures|Developmental delay & seizure disorder|Cystic hygroma, hydrops & micrognathia|Cystic hygroma, shortened upper limbs & fetal demise|Developmental & speech delay|Developmental delay|Developmental delay / autism|Developmental delay & autism|Developmental delay & dysmorphic features|Developmental delay & epilepsy|Developmental delay & hypotonia|Developmental delay & multiple congenital anomalies	ICGC,
chr10	71716490	71716490	T	C	intronic	COL13A1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN18093502	-	-	-	-	other phenotype	-	COSMIC,
chr4	165751769	165751769	T	G	intergenic	LINC01207,APELA	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22605023	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr7	82029682	82029682	C	G	intronic	CACNA2D1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	behavior/neurological phenotype	Short QT syndrome|Schizophrenia  |Histiocytoid cardiomyopathy|Epileptic encephalopathy  |Brugada syndrome    	ICGC,
chr2	112753985	112753985	T	C	intronic	MERTK	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	integument phenotype	Leber congenital amaurosis|Retinal dystrophy|Retinitis pigmentosa|Retinitis pigmentosa, autosomal recessive|Rod-cone dystrophy|Rod-cone dystrophy, childhood onset	ICGC,
chr18	45174812	45174812	C	A	intergenic	SKOR2,SMAD2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2509351	-	-	-	-	mortality/aging,integument phenotype	-,Congenital heart defects |Congenital heart disease 	COSMIC,
chr13	80075108	80075108	A	G	intronic	NDFIP2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6233045	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr13	67651895	67651895	C	T	intronic	PCDH9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr2	200963752	200963752	G	C	intergenic	C2orf47,SPATS2L	unknown	SNV	-	-	-	0.1276	rs78954994	-	0.077476	-	0.022	-	-	LAML-KR|1|205|0.00488	-	-	-,-	-,-	ICGC,
chr22	37648973	37648973	C	T	intergenic	RAC2,CYTH4	unknown	SNV	-	-	-	6.461e-05	-	-	-	-	-	COSN25497733	-	MALY-DE|1|241|0.00415	-	-	mortality/aging,-	Neutrophil immunodeficiency syndrome|Anthracycline-induced cardiotoxicity, association with,-	COSMIC,ICGC,
chr7	64603785	64603785	C	T	ncRNA_intronic	LOC441242	unknown	SNV	-	-	-	0.0769	rs200124870	-	-	-	-	COSN20483834	-	COCA-CN|1|321|0.00312	-	-	-	-	COSMIC,ICGC,
chr22	26370602	26370602	T	C	intronic	MYO18B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN10028816	-	RECA-EU|1|422|0.00237	-	-	mortality/aging	Colorectal cancer, increased risk, association with|Leukemia, risk, association with |Schizophrenia	COSMIC,ICGC,
chr4	5883857	5883857	C	T	intronic	CRMP1	unknown	SNV	-	-	-	3.227e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	Alzheimer disease  	ICGC,
chr5	54900904	54900904	A	T	intergenic	PPAP2A,SLC38A9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	reproductive system phenotype,-	-,-	ICGC,
chrX	83604375	83604375	A	T	intronic	HDX	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25281697	-	MALY-DE|1|241|0.00415	-	-	normal phenotype	Premature ovarian failure |Mental retardation, X-linked	COSMIC,ICGC,
chr9	111558070	111558070	C	T	intergenic	KLF4,ACTL7B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	integument phenotype,-	-,Schizophrenia	ICGC,
chr2	189750690	189750690	A	T	intergenic	DIRC1,COL3A1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25523760	-	MALY-DE|1|241|0.00415	-	-	-,integument phenotype	-,Ehlers-Danlos syndrome, vascular-type|Intracranial aneurysm, association with  |Pelvic organ prolapse, association with|Potential protein deficiency|Thoracic aortic aneurysms and dissections|Ehlers-Danlos syndrome IV, vascular-type|Ehlers-Danlos syndrome IV|Ehlers-Danlos syndrome III|Ehlers-Danlos syndrome|Ehlers-Danlos IV with features of EDS I/II & muscle hypertrophy|Aortic aneurysm |Acrogeria, Gottron	COSMIC,ICGC,
chr16	54404166	54404166	C	T	intergenic	IRX3,CRNDE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	Increased body mass index, association with,-	ICGC,
chr12	22050563	22050563	A	C	intronic	ABCC9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	mortality/aging	Potential protein deficiency|Myocardial infarction, association with|Early repolarization syndrome.|Early repolarization syndrome|Diabetes, type 2, association with |Cardiomyopathy, dilated|Cantú syndrome|Brugada syndrome.|Brugada syndrome    |Atrial fibrillation	ICGC,
chr1	158346828	158346828	-	A	intergenic	CD1E,OR10T2	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN19565027	-	-	-	-	-,-	Guillain-Barre syndrome, reduced risk, association with|Impaired lipid antigen presentation, association with,-	COSMIC,
chr15	34082679	34082679	T	C	intronic	RYR3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16106532	-	PACA-CA|1|268|0.00373	-	-	behavior/neurological phenotype	Schizophrenia|Hyperinsulinism|Breast cancer, increased risk, association with  	COSMIC,ICGC,
chr8	11119469	11119469	T	C	intergenic	XKR6,MTMR9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Schizophrenia,Metabolic syndrome, association with |Higher body mass index, association with |Autism	ICGC,
chr2	192144295	192144295	A	G	intronic	MYO1B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr6	99631466	99631466	A	T	intergenic	FBXL4,FAXC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	-,-	Mitochondrial encephalopathy, early-onset,-	ICGC,
chr11	87298317	87298317	A	G	intergenic	TMEM135,RAB38	unknown	SNV	-	-	-	0.3997	rs11235216	-	0.370807	-	0.333	-	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	Intellectual disability  ,-	ICGC,
chr20	33247076	33247076	C	T	intronic	PIGU	unknown	SNV	-	-	-	4.086e-05	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr15	84648160	84648160	C	T	intronic	ADAMTSL3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	Glaucoma, primary congenital|Schizophrenia, reduced risk, association with 	ICGC,
chr13	88172621	88172621	G	T	ncRNA_intronic	MIR4500HG	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15335758	-	PRAD-UK|1|140|0.00714	-	-	-	-	COSMIC,ICGC,
chr12	82178729	82178729	G	A	intergenic	PPFIA2,LOC101928449	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	69189447	69189447	-	TA	intronic	YTHDC1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	Schizophrenia  	ICGC,
chrX	143988055	143988055	C	T	intergenic	UBE2NL,SPANXN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	Potential protein deficiency,-	ICGC,
chr12	89066648	89066648	G	C	intergenic	KITLG,LOC728084	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	integument phenotype,-	Progressive hyperpigmentation|Progressive hyper- and hypopigmentation|Cancer, susceptibility to,-	ICGC,
chr4	161301263	161301263	-	A	intergenic	RAPGEF2,FSTL5	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|2|71|0.02817	-	-	integument phenotype,-	-,Schizophrenia  |Rolandic epilepsy 	ICGC,
chr20	14697919	14697919	C	T	intronic	MACROD2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Kabuki syndrome|Attention deficit hyperactivity disorder 	ICGC,
chr15	73660603	73660603	C	T	exonic	HCN4	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM5806189	-	LICA-CN|1|402|0.00249	-	-	mortality/aging	Ventricular tachycardia |Tachycardia-bradycardia syndrome and atrial fibrillation|Sudden unexpected death in epilepsy|Sudden infant death syndrome|Sinus node disease|Sinus bradycardia, asymptomatic, association with|Sinus bradycardia|Brugada syndrome    |Atrioventricular block  |Atrial fibrillation	COSMIC,ICGC,
chr4	132137452	132137452	G	A	intergenic	LOC101927282,PCDH10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Schizophrenia|Potential protein deficiency	ICGC,
chr8	117995494	117995494	C	T	intronic	SLC30A8	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16107015	-	PACA-CA|1|268|0.00373	-	-	vision/eye phenotype	Reduced enhancer activity|Potential protein deficiency|Increased insulin clearance|Higher proinsulin levels, association with|Diabetes, type 2, protection against |Diabetes, type 2, association with|Autoantibody specificity in T1D, association with|Autoantibody specificity in T1D	COSMIC,ICGC,
chrX	44866173	44866173	-	A	intronic	KDM6A	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	mortality/aging	Short stature, microcephaly, cleft palate, intellectual disability and seizures|Short stature, low birthweight, hypoglycinaemia|Renal cancer|Psychomotor retardation, growth restriction, seizures and cleft palate|Mental retardation, developmental delay and obesity|Kabuki syndrome|Encephalopathy, epilepsy and developmental disorder|Developmental delay, dysmorphic features, seizures and macrocephaly|Developmental delay and dysmorphic features|Autism spectrum disorder	ICGC,
chr12	46606265	46606265	C	T	intronic	SLC38A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr1	236832372	236832372	-	TTTCCTTCTTTCCTTCC	intergenic	HEATR1,ACTN2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,Cardiomyopathy, dilated|Cardiomyopathy, hypertrophic	ICGC,
chr17	11000473	11000473	T	A	intergenic	PIRT,SHISA6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	integument phenotype,-	-,-	ICGC,
chrX	29920790	29920790	C	A	intronic	IL1RAPL1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN14993827	-	LICA-FR|1|252|0.00397	-	-	nervous system phenotype	Mental retardation, X-linked|Mental retardation with dysmorphic features|Mental retardation and autism|Intellectual disability, X-linked with dysmorphism|Intellectual disability, X-linked|Intellectual disability, dysmorphic signs, deafness & behavioural problems|Intellectual disability & behavioural problems|Developmental delay, learning disability & microcephaly|Autism spectrum disorder  |Asperger syndrome	COSMIC,ICGC,
chr11	65408550	65408550	G	A	exonic	SIPA1	nonsynonymous	SNV	0.06	0.763	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	hematopoietic system phenotype	Oestrogen receptor negative tumours, association with|Breast cancer, reduced risk, association with	ICGC,
chr4	31713681	31713681	A	-	intergenic	PCDH7,NONE	unknown	deletion	-	-	-	0.0277	rs201624568	-	0.013778	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr8	87956586	87956586	C	G	intronic	CNBD1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN18904855	-	-	-	-	-	-	COSMIC,
chr8	79673452	79673452	C	T	intronic	IL7	unknown	SNV	-	-	-	9.69e-05	-	-	-	-	-	COSN19564622	-	-	-	-	hematopoietic system phenotype	Increased expression	COSMIC,
chr3	85171063	85171063	C	T	intronic	CADM2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chrX	86225679	86225679	G	A	intergenic	DACH2,KLHL4	unknown	SNV	-	-	-	6.637e-05	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	normal phenotype,-	-,-	ICGC,
chr4	38509960	38509960	A	G	ncRNA_intronic	LINC01258	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr15	74179374	74179374	C	T	intronic	TBC1D21	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr12	45400471	45400471	-	A	intergenic	NELL2,DBX2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	nervous system phenotype,-	-,-	ICGC,
chrX	142920858	142920858	G	A	intergenic	SPANXN2,UBE2NL	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24468873	-	GACA-CN|1|123|0.00813	-	-	-,-	-,Potential protein deficiency	COSMIC,ICGC,
chr12	46474140	46474140	C	A	intergenic	SCAF11,SLC38A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr5	9025003	9025003	G	A	intergenic	LOC101929284,SEMA5A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,Double outlet right ventricle	ICGC,
chr19	14450246	14450246	G	T	intergenic	LPHN1,CD97	unknown	SNV	-	-	-	0.2034	rs11673365	-	0.246805	-	0.181	-	-	ESAD-UK|1|301|0.00332	-	-	behavior/neurological phenotype,mortality/aging	-,-	ICGC,
chr4	33012837	33012837	C	T	intergenic	PCDH7,NONE	unknown	SNV	-	-	-	-	rs868698764	-	-	-	-	COSN518435	-	-	-	-	-,-	-,-	COSMIC,
chr15	56450399	56450399	A	T	intronic	RFX7	unknown	SNV	-	-	-	0.2907	rs62044114	-	0.232827	-	0.333	-	-	ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488	-	-	-	-	ICGC,
chr8	14200417	14200417	G	A	intronic	SGCZ	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|3|183|0.01639	-	-	-	Cervical artery dissection	ICGC,
chr13	52412513	52412513	G	A	ncRNA_intronic	LINC00282	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8587676	-	LUSC-KR|2|170|0.01176	-	-	-	-	COSMIC,ICGC,
chr2	6754727	6754727	G	A	intergenic	LINC01247,LINC01246	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7992203	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	COSMIC,ICGC,
chr7	53240231	53240231	T	G	intergenic	POM121L12,LINC01446	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	225551380	225551380	G	A	intronic	DNAH14	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Potential protein deficiency	ICGC,
chr16	77355661	77355661	G	A	intronic	ADAMTS18	unknown	SNV	-	-	-	9.688e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	reproductive system phenotype	Retinal dystrophy, severe, early-onset|Microcornea, myopic chorioretinal atrophy and telecanthus|Knobloch syndrome|Bone mass, association with	ICGC,
chr11	23179468	23179468	C	T	intergenic	CCDC179,MIR8054	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,-	-,-	ICGC,
chr6	49249549	49249549	A	T	intergenic	PTCHD4,MUT	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22196184	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	-,mortality/aging	-,Methylmalonic aciduria	COSMIC,COSMIC,ICGC,
chr13	53313976	53313976	A	C	upstream	LECT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	vision/eye phenotype	-	ICGC,
chr4	111050211	111050211	A	G	intronic	ELOVL6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	behavior/neurological phenotype	-	ICGC,
chr8	84705085	84705085	C	A	intergenic	LINC01419,RALYL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr22	24439120	24439120	G	A	intronic	CABIN1	unknown	SNV	-	-	-	3.228e-05	-	-	-	-	-	COSN27356653	-	BTCA-SG|1|71|0.01408	-	-	mortality/aging	Schwannomatosis|Schizophrenia|Neurofibromatosis 2	COSMIC,ICGC,
chr14	83613065	83613065	T	A	intergenic	LOC101928559,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15259655	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chrX	18592116	18592116	T	G	intronic	CDKL5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21619721	-	BRCA-EU|1|569|0.00176	-	-	-	Infantile spasms|Mental disability, hypotonia, and intractable epilepsy|Mental retardation and epilepsy|Mental retardation, X-linked|Myoclonic encephalopathy|Precocious puberty|Rett syndrome|Rett syndrome, atypical|Rett syndrome, Hanefeld variant|Rett syndrome, variant, with infantile spasms|Rett syndrome, variant, with infantile spasms.|Seizures |Seizures, early-onset|West syndrome|Infantile spasm syndrome, X-linked|Epileptic seizures, early-onset|Epileptic encephalopathy, early-onset|Angelman syndrome|CDKL5 disorder|CDKL5 disorder.|Encephalopathy|Encephalopathy with early epilepsy|Encephalopathy with refractory epilepsy|Encephalopathy, epileptic|Epilepsy and psychomotor retardation|Epileptic encephalopathy, early onset|Epileptic encephalopathy with hypermotor-tonic-spasms|Epileptic encephalopathy  |Epilepsy, early-onset.|Epilepsy, early-onset|Epilepsy with cognitive impairment / autism spectrum disorder	COSMIC,ICGC,
chr7	103238111	103238111	C	T	intronic	RELN	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Schizophrenia, association with  |Schizophrenia|Reduced expression|Lissencephaly with cerebellar hypoplasia|Developmental delay & mental retardation|Autism spectrum disorder|Autism	ICGC,
chr3	162421074	162421074	G	A	intergenic	OTOL1,LINC01192	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr3	73308472	73308472	T	C	intergenic	PPP4R2,PDZRN3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	ICGC,
chr6	102644031	102644031	G	T	intergenic	GRIK2,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24926977	-	LICA-FR|1|252|0.00397	-	-	behavior/neurological phenotype,-	Mental retardation, non-syndromic, autosomal recessive,-	COSMIC,ICGC,
chr13	94886762	94886762	-	T	intronic	GPC6	unknown	insertion	-	-	-	0.3158	rs56709078	-	0.49381	-	-	COSN27339567	-	-	-	-	-	Omodysplasia|Pancreatic cancer 	COSMIC,
chr11	106551761	106551761	C	A	UTR3	GUCY1A2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6983351	-	PACA-AU|1|391|0.00256	-	-	hematopoietic system phenotype	-	COSMIC,ICGC,
chr8	72718447	72718450	GAAA	-	intergenic	EYA1,MSC	unknown	deletion	-	-	-	-	rs768050887	-	-	-	-	-	-	LMS-FR|2|67|0.02985	-	-	mortality/aging,mortality/aging	Oto-facio-cervical syndrome|Peters' anomaly with cataracts|Renal hypodysplasia|Renal malformation|Ureteropelvic junction obstruction and reduced renal function|Iris anomaly|Hearing loss?|Deafness  |Cayler's cardiofacial syndrome|Cataract, autosomal dominant|Branchio-oto-renal syndrome|Branchio-oto-renal / branchiootic syndrome|Branchio-otic syndrome,-	ICGC,
chr4	41599695	41599695	G	A	intronic	LIMCH1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr11	4260846	4260846	C	T	intergenic	LOC100506082,OR52B4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Potential protein deficiency	ICGC,
chr4	173542811	173542811	C	T	intronic	GALNTL6	unknown	SNV	-	-	-	9.691e-05	rs749169874	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr14	85320926	85320926	G	T	intergenic	NONE,LINC00911	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr12	18487716	18487716	G	A	intronic	PIK3C2G	unknown	SNV	-	-	-	3.234e-05	rs560571122	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Diabetes, type 2, association with	ICGC,
chr12	128465413	128465413	G	A	intergenic	LINC00507,LOC100996679	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7315934	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	COSMIC,ICGC,
chr3	98836705	98836705	A	-	intergenic	DCBLD2,MIR548G	unknown	deletion	-	-	-	-	-	-	-	-	-	COSN22871844	-	BRCA-EU|1|569|0.00176	-	-	-,-	Anorectal malformation,-	COSMIC,ICGC,
chr12	103126307	103126307	C	A	intergenic	IGF1,LINC00485	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25894641	-	EOPC-DE|1|202|0.00495	-	-	integument phenotype,-	Weight gain, association with|Short stature|Primordial dwarfism|Muscle strength in response to strength training, association with |Left ventricular mass in male athletes, association with|Insulin-like growth factor deficiency|IgF1 levels, association with|Growth retardation|Bone mineral density, association with|Cervical cancer, increased risk, association with |Colorectal cancer, non-polyposis, association with|Cranial growth ihn preterm infants, association with|Diabetes and myocardial infarction, association with,-	COSMIC,ICGC,
chr9	35725594	35725594	C	T	exonic	TLN1	nonsynonymous	SNV	0.005	1.0	3.658e-05	-	rs746403233	3.299e-05	-	-	-	COSM6504856	-	-	-	-	mortality/aging	-	COSMIC,
chr6	76023145	76023145	C	T	exonic	FILIP1	synonymous	SNV	-	-	1.22e-05	-	rs148968530	2.472e-05	-	7.7e-05	-	COSM1496430	KIPAN|2|799|0.00250,KIRC|2|451|0.00443	-	-	-	-	Schizophrenia  	COSMIC,TCGA,
chr12	41450700	41450700	A	G	intronic	CNTN1	unknown	SNV	-	-	-	0.0004	rs1083140	-	0.0900559	-	-	-	-	LAML-KR|1|205|0.00488	-	-	mortality/aging	Myopathy, lethal congenital|Pancreatic cancer 	ICGC,
chr7	100680394	100680394	C	A	exonic	MUC17	synonymous	SNV	-	-	-	-	-	-	-	-	-	-	LUAD|2|543|0.00368	-	-	-	-	Potential protein deficiency|Schizophrenia	TCGA,
chr17	67405262	67405262	T	C	intergenic	ABCA5,MAP2K6	unknown	SNV	-	-	-	0.1286	rs57462520	-	0.185903	-	0.130	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,hematopoietic system phenotype	-,-	ICGC,
chr5	174639719	174639719	G	A	intergenic	FLJ16171,DRD1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6284526	-	LIRI-JP|1|258|0.00388	-	-	-,integument phenotype	-,Schizophrenia, association with.|Schizophrenia, association with  |Renal traits, association with|Reduced basal signalling|Psychotic symptoms and Aggressive behaviour, in Alzheimer disease, association with.|Psychosis and Aggression, in Alzheimer disease, association with.|Prophylactic lithium response in bipolar disorder, association with|Nicotine dependence, association with|Essential hypertension, association with|Bipolar disorder, association with	COSMIC,ICGC,
chr4	61021614	61021614	G	T	intergenic	NONE,LPHN3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PAEN-IT|1|37|0.02703	-	-	-,behavior/neurological phenotype	-,-	ICGC,
chr2	129804536	129804536	G	A	intergenic	LOC101927881,LOC151121	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr11	30299440	30299440	C	G	intergenic	FSHB,ARL14EP	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8441971	-	OV-AU|1|93|0.01075	-	-	reproductive system phenotype,-	Altered gonadotropin secretion, association with|Follicle-stimulating hormone deficiency|Reduced reproductive potential, association with|Reduced serum FSH,-	COSMIC,ICGC,
chr9	136336764	136336764	-	C	UTR3	SLC2A6	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN21234434	-	-	-	-	-	-	COSMIC,
chr6	78277681	78277681	T	A	intergenic	HTR1B,MEI4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	skeleton phenotype,-	Suicidal ideation, in major depression, association with|Receptor variant|Alcohol dependence, association with|Alcohol and drug abuse, association with|Aggressive behaviour, association with,-	ICGC,
chr11	56527164	56527164	G	A	intergenic	MIR6128,LOC101927120	unknown	SNV	-	-	-	0.0002	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr12	87697888	87697888	C	A	intergenic	MGAT4C,MKRN9P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	Prostate cancer, increased risk |Mental retardation,-	ICGC,
chr17	41246396	41246396	C	T	exonic	BRCA1	synonymous	SNV	-	-	-	-	-	-	-	-	-	-	-	-	not_specified	-	integument phenotype	Peritoneal carcinoma|Papillary thyroid carcinoma, increased risk|Papillary thyroid cancer, reduced risk|Pancreatic cancer   |Pancreatic adenocarcinoma|Ovarian carcinoma.|Ovarian carcinoma|Ovarian cancer, early-onset.|Ovarian cancer, association with|Ovarian cancer ?|Ovarian cancer|Ovarian / peritoneal carcinoma|Neuronal migration defect|Potential protein deficiency|Prolonged survival in advanced gastric cancer, association with|Prostate cancer|Uterine serous carcinoma.|Triple-negative breast cancer|Thyroid carcinoma, multifocal primary, reduced risk|Thyroid cancer, ovarian cancer, and thymic malignant melanoma ?|Serous tubal intraepithelial carcinoma.|Renal cell carcinoma.|Renal cell carcinoma in males|Reduced promoter activity|Reduced activity, association with|Reduced 3'UTR activity|Prostate cancer.|Prostate cancer, early-onset, association with.|Prostate cancer risk|Mean number of breaks per cell, association with|Altered promoter activity|Breast cancer, increased risk|Breast cancer, early-onset.|Breast cancer, early-onset|Breast cancer, descreased risk, association with|Breast cancer, bilateral basal-like|Breast cancer, association with|Breast cancer, association |Breast cancer & multiple sclerosis|Breast cancer|Breast and/or ovarian cancer.|Breast and/or ovarian cancer |Breast and colorectal cancer|Altered radiation exposure-response relationship|Breast cancer, protection against, association with |Breast cancer, susceptibility to |Low-grade adenosquamous carcinoma of the breast, association with|Li-Fraumeni-like syndrome|Glioblastoma multiforme, association with|Gastric cancer|Fallopian tube carcinoma|Fallopian tube / ovarian carcinoma|Endometriosis, association with |Endometrial cancer.|Breast cancer, triple-negative|Breast cancer.|Cervical cancer, decreased risk, association with|Colorectal cancer |Ductal carcinoma in situ|Endometrial cancer   	ClinVar,
chr11	121188423	121188423	G	T	intergenic	SC5D,SORL1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5897049	-	LIRI-JP|1|258|0.00388	-	-	-,other phenotype	-,Alzheimer disease, association with|Alzheimer disease, early onset	COSMIC,ICGC,
chr13	61987928	61987928	G	T	exonic	PCDH20	nonsynonymous	SNV	1.0	0.001	-	-	-	-	-	-	-	COSM6051411	-	-	-	-	-	-	COSMIC,COSMIC,
chr11	8892356	8892356	G	A	intronic	ST5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20675370	-	BRCA-EU|1|569|0.00176	-	-	-	Mental retardation & multiple congenital anomalies	COSMIC,ICGC,
chr18	25070429	25070429	C	T	intergenic	CHST9,CDH2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Reduced expression|Potential protein deficiency|Alzheimer disease  	ICGC,
chr2	50409298	50409298	C	T	intronic	NRXN1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN18872633	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Hypotonia|Hypotonia & encephalopathy|Increased white matter volume, association with|Intellectual disability  |Intellectual disability & attention deficit hyperactivity disorder|Intellectual disability & hearing loss|Intellectual disability & pervasive developmental disorder|Intellectual disability and autism|Intellectual disability, nonsyndromic |Intellectual disability, seizures, dysmorphisms & language delay|Growth retardation  |Epilepsy, myoclonic seizures & speech delay|Developmental disorder|Developmental disorder & attention deficit hyperactivity disorder|Developmental disorder, seizures & attention deficit hyperactivity disorder|Developmental/intellectual disability, hypotonia & dysmorphic features|Disorder of muscle, ligament & fascia|Encephalopathy  |Epilepsy  |Epilepsy with cognitive impairment / autism spectrum disorder|Epilepsy with focal seizures|Epilepsy, generalised |Intellectual disability, seizures, language delay & hypotonia|Language delay|Learning difficulties|Respiratory distress & sepsis|Respiratory distress syndrome|Schizophrenia |Schizophrenia, childhood onset |Schizophrenia, disorganised type|Seizures, generalized tonic-clonic & attention deficit hyperactivity disorder|Sensory integration disorder & attention deficit hyperactivity disorder|Speech delay & social communication difficulties|Tourette syndrome|Pervasive developmental disorder / hypotonia|Pervasive developmental disorder|Pervasive developmental delay / mental retardation, lack of coordination & hearing loss|Learning difficulties, ADHD & autism|Mental retardation|Mental retardation, autism, vertebral malformations|Mental retardation, Pitt-Hopkins-like|Microcephaly & mental retardation|Multiple congenital anomalies  |Multiple disabilities|Myoclonic epilepsy   |Neurodevelopmental disorder  |Vertebral anomalies|Developmental delay, speech delay & social communication difficulties|Attention deficit hyperactivity disorder |Autism spectrum disorder, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability & language delay|Autism spectrum disorder, intellectual disability, dysmorphisms, developmental delay & language delay|Autism spectrum disorder, intellectual disability, seizures & developmental delay|Autism spectrum disorder, intellectual disability, seizures, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability, seizures, dysmorphisms & language delay|Autism spectrum disorder, seizures, developmental delay & language delay|Autism, intellectual disability & attention deficit hyperactivity disorder|Autistic disorder|Autism spectrum disorder with developmental & speech delay|Autism spectrum disorder & seizures|Autism spectrum disorder & language delay|Autism |Autism & learning difficulties|Autism & mental retardation|Autism & seizures|Autism spectrum disorder|Autism spectrum disorder & attention deficit hyperactivity disorder|Autism spectrum disorder & developmental delay|Autism spectrum disorder & dysmorphic features|Autism spectrum disorder & intellectual disability|Behavioural problems|Congenital heart defect  |Craniofacial dysmorphism|Developmental delay & speech/motor delay|Developmental delay with early-onset epilepsy|Developmental delay, dysmorphic features & short stature|Developmental delay, epilepsy, autism|Developmental delay, language delay & hypotonia|Developmental delay, learning difficulties, ADHD|Developmental delay, microcephaly & behavioural problems|Developmental delay, pulmonic stenosis & autism spectrum disorder|Developmental delay, short stature and diaphragmatic hernia|Developmental delay, speech delay & microcephaly|Developmental delay & seizures|Developmental delay & seizure disorder|Cystic hygroma, hydrops & micrognathia|Cystic hygroma, shortened upper limbs & fetal demise|Developmental & speech delay|Developmental delay|Developmental delay / autism|Developmental delay & autism|Developmental delay & dysmorphic features|Developmental delay & epilepsy|Developmental delay & hypotonia|Developmental delay & multiple congenital anomalies	COSMIC,ICGC,
chr2	12004843	12004843	T	A	intergenic	MIR4262,LOC100506457	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9856850	-	RECA-EU|1|422|0.00237	-	-	-,-	-,-	COSMIC,ICGC,
chr18	66793356	66793356	G	A	intergenic	CCDC102B,DOK6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr8	111861650	111861650	G	A	intergenic	KCNV1,CSMD3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,-	-,Schizophrenia  |Colorectal cancer 	ICGC,
chr22	23232387	23232387	G	T	intronic	IGLL5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25488728	-	MALY-DE|2|241|0.00830	-	-	-	-	COSMIC,ICGC,
chr8	36227059	36227059	G	A	intergenic	UNC5D,KCNU1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,reproductive system phenotype	-,Schizophrenia  	ICGC,
chr2	21736469	21736469	C	A	intergenic	APOB,LOC645949	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16327539	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging,-	Hypocholesterolaemia, association with|Hypocholesterolaemia|Hypobetalipoproteinemia-induced nonalcoholic steatohepatitis|Hypobetalipoproteinaemia.|Hypobetalipoproteinaemia|Hypertriglyceridaemia |Hypocholesterolaemia, steatosis and liver cancer|Increased apoB and cholesterol levels, association with|Increased cholesterol levels|Increased LDL cholesterol levels|Ischaemic stroke, association with |Oligoasthenoteratozoospermia, association with|Oxidised low-density lipoprotein levels, association with|Total cholesterol levels, association with|Hypercholesterolemia, association with|Hypercholesterolaemia, association with|Altered APOB levels |Altered binding affinity|Aortic stenosis, association with|Apolipoprotein B deficiency|Cerebrovascular disease events, association with|Coronary artery disease, association with|Coronary heart disease|Coronary heart disease, association with|Hypercholesterolaemia ?|Hypercholesterolaemia|Hepatitis C virus infection, association with|HDL cholesterol, association with |Diabetes, MODY|Decreased bone mineral density,-	COSMIC,ICGC,
chr19	20683412	20683412	G	A	intergenic	ZNF826P,ZNF737	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr4	144888724	144888724	G	A	intergenic	GYPE,GYPB	unknown	SNV	-	-	-	0.0018	rs181929336	-	0.00159744	-	-	COSN15142946	-	-	-	-	-,-	Autism spectrum disorder, association with,Blood group variation|Ss blood group variation	COSMIC,
chr4	81122593	81122593	C	T	exonic	PRDM8	synonymous	SNV	-	-	1.218e-05	-	rs754992126	1.656e-05	-	-	-	-	-	GACA-JP|1|585|0.00171	-	-	integument phenotype	Lafora body disease, early-onset	ICGC,
chr11	67997569	67997569	T	C	intergenic	SUV420H1,C11orf24	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15836482	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging,-	Autism|Congenital heart disease ,-	COSMIC,ICGC,
chr5	26306721	26306721	G	T	intergenic	LOC340107,CDH9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr21	38157677	38157677	T	C	intronic	HLCS	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25760895	-	EOPC-DE|1|202|0.00495	-	-	-	Reduced biotin affinity|Multiple carboxylase deficiency|Increased activity|Holocarboxylase synthetase deficiency.|Holocarboxylase synthetase deficiency	COSMIC,ICGC,
chr12	34515819	34515819	T	G	intergenic	ALG10,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chrX	132433633	132433633	T	G	intergenic	TFDP3,GPC4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,hematopoietic system phenotype	-,Simpson-Golabi-Behmel syndrome 	ICGC,
chr5	63249014	63249014	C	T	intergenic	IPO11,HTR1A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Tourette syndrome |Reduced expression|Personality disorders, association with.|Menstrual cycle-dependent fever|Major depression and suicide, association with|Major depression|Impulsive behaviour, association with|Epileptic seizures |Comorbid depression and generalized anxiety, association with|Attenuated agonist-mediated receptor down-regulation and desensitization	ICGC,
chr19	54393155	54393155	T	A	exonic	PRKCG	nonsynonymous	SNV	0.0	0.769	-	-	rs386134168	-	-	-	-	-	-	-	Spinocerebellar_ataxia_14	-	integument phenotype	Spinocerebellar ataxia 14, late-onset|Spinocerebellar ataxia 14|Retinitis pigmentosa|Potential protein deficiency|Expansion of the phenotypic spectrum of SCA14	ClinVar,
chr6	35216867	35216867	G	A	UTR3	SCUBE3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26642984	-	LICA-CN|1|402|0.00249	-	-	normal phenotype	-	COSMIC,ICGC,
chr14	104087688	104087688	C	T	intergenic	APOPT1,KLC1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,other phenotype	-,-	ICGC,
chr1	109828404	109828404	-	GGC	intergenic	PSRC1,MYBPHL	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,Schizophrenia	ICGC,
chr12	58491354	58491354	C	A	intergenic	XRCC6BP1,LOC101927653	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	ICGC,
chr3	102393883	102393883	G	A	intergenic	ZPLD1,MIR548A3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Cerebral cavernous malformations,-	ICGC,
chr7	102928671	102928671	T	A	intergenic	DPY19L2P2,PMPCB	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17266540	-	PACA-CA|1|268|0.00373	-	-	-,mortality/aging	-,-	COSMIC,ICGC,
chr5	58377667	58377667	C	G	intronic	PDE4D	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26704240	-	BRCA-FR|1|72|0.01389	-	-	mortality/aging	Psychomotor retardation, coarse facies & ocular anomalies|Intellectual disability syndrome with low body mass index & facial features|Acrodysostosis	COSMIC,ICGC,
chrX	88735918	88735918	C	T	intergenic	CPXCR1,TGIF2LX	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	ICGC,
chr6	75025796	75025796	G	A	ncRNA_intronic	LOC101928516	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr2	168697736	168697736	A	T	intronic	B3GALT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-	-	ICGC,
chr5	120053225	120053228	AATT	-	intergenic	PRR16,LOC102467226	unknown	deletion	-	-	-	-	rs200665872	-	-	-	-	-	-	LMS-FR|3|67|0.04478	-	-	-,-	-,-	ICGC,
chr21	30117319	30117319	C	T	intergenic	LINC00161,N6AMT1	unknown	SNV	-	-	-	0.1760	rs11700653	-	0.226837	-	0.123	-	-	ESAD-UK|2|301|0.00664	-	-	-,mortality/aging	-,-	ICGC,
chr9	1190873	1190873	G	A	intergenic	DMRT2,SMARCA2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,integument phenotype	-,Short stature|Schizophrenia, association with   |Nicholaides-Baraitser syndrome|Multiple congenital anomalies  |Lung cancer, association with|Intellectual disabilty, short stature and dysmorphisms|Hepatocellular carcinoma, in smokers, association with.|Hepatocellular carcinoma, association with.|Developmental delay & dysmorphic features|Developmental delay & autistic features|Developmental delay  |Coffin-Siris syndrome	ICGC,
chr5	4716614	4716614	G	A	intergenic	IRX1,LOC101929153	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr9	78039162	78039162	G	A	intergenic	OSTF1,MIR548H3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr6	50414006	50414006	C	T	intergenic	DEFB112,TFAP2D	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,cellular phenotype	-,Schizophrenia	ICGC,
chr8	105278255	105278255	C	T	intergenic	RIMS2,DCSTAMP	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,hematopoietic system phenotype	-,-	ICGC,
chr11	124961837	124961837	C	A	intergenic	SLC37A2,TMEM218	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr1	227517546	227517546	C	G	intergenic	CDC42BPA,ZNF678	unknown	SNV	-	-	-	0.2632	rs12022275	-	0.317891	-	0.268	COSN6445766	-	ESAD-UK|2|301|0.00664	-	-	-,-	-,-	COSMIC,ICGC,
chr2	220132633	220132633	C	T	ncRNA_intronic	TUBA4B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr11	23312763	23312763	A	G	intergenic	CCDC179,MIR8054	unknown	SNV	-	-	-	0.5021	rs12286641	-	0.48123	-	0.457	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr6	140697610	140697610	T	C	intergenic	MIR3668,MIR4465	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25751934	-	EOPC-DE|1|202|0.00495	-	-	-,-	-,-	COSMIC,ICGC,
chr7	53414638	53414638	T	A	intergenic	POM121L12,LINC01446	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	-,-	ICGC,
chr5	2429241	2429241	A	T	intergenic	LOC100506858,IRX2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,normal phenotype	-,-	ICGC,
chr20	9977332	9977332	T	C	ncRNA_intronic	LOC101929371	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr8	97067022	97067022	C	T	intergenic	LOC100500773,GDF6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Ocular & skeletal abnormalities|Leri's pleonosteosis|Leber congenital amaurosis.|Leber congenital amaurosis|Klippel-Feil syndrome|Chiari type I malformation?|Anophthalmia, bilateral 	ICGC,
chr2	131454701	131454701	G	A	intergenic	CYP4F30P,GPR148	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	ICGC,
chr1	147769762	147769762	C	T	intronic	NBPF8	unknown	SNV	-	-	-	6.515e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr8	109068755	109068755	G	A	intronic	RSPO2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	integument phenotype	Pancreatic cancer 	ICGC,
chr21	21620557	21620557	T	A	intergenic	LOC101927797,LINC00320	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	227215961	227215961	C	T	intergenic	LOC646736,MIR5702	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	-,-	-,-	ICGC,
chr14	84955100	84955100	C	G	intergenic	NONE,LINC00911	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr1	68394381	68394382	AA	-	ncRNA_intronic	GNG12-AS1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr13	52861735	52861735	G	A	intergenic	MRPS31P5,LOC103191607	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr11	50668985	50668985	C	T	intergenic	LOC646813,OR4A5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr7	52460660	52460660	G	A	intergenic	COBL,POM121L12	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	nervous system phenotype,-	-,-	ICGC,
chr15	83632234	83632234	G	A	intergenic	HOMER2,FAM103A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype,-	Schizophrenia, protection, association with ,-	ICGC,
chr4	72233491	72233491	G	T	intronic	SLC4A4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26679664	-	LICA-CN|1|402|0.00249	-	-	integument phenotype	Reduced transport activity|Proximal renal tubular acidosis|Migraine 	COSMIC,ICGC,
chr4	104829574	104829574	G	A	intergenic	TACR3,CXXC4	unknown	SNV	-	-	-	6.458e-05	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	behavior/neurological phenotype,-	Kallmann syndrome|Hypogonadotropic hypogonadism,-	ICGC,
chr4	75968661	75968661	A	G	intronic	PARM1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25579785	-	MALY-DE|1|241|0.00415	-	-	-	Schizophrenia	COSMIC,ICGC,
chr4	126373825	126373825	C	T	exonic	FAT4	nonsynonymous	SNV	0.065	0.277	-	-	-	-	-	-	-	COSM1694978	-	-	-	-	mortality/aging	Periventricular neuronal heterotopia|Schizophrenia	COSMIC,COSMIC,
chr13	91726575	91726575	G	A	intergenic	LINC00410,LINC00380	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr6	130699550	130699550	C	T	intronic	TMEM200A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr6	8639337	8639337	A	T	ncRNA_intronic	LOC100506207	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr3	142071794	142071794	C	T	intronic	XRN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr2	79140800	79140800	G	T	intergenic	LOC101927967,REG3G	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	ICGC,
chr9	35237784	35237784	C	T	exonic	UNC13B	nonsynonymous	SNV	0.0	1.0	-	-	-	-	-	-	-	COSM3848458	BRCA|1|982|0.00102	BRCA-US|1|955|0.00105	-	-	mortality/aging	Autism spectrum disorder	COSMIC,COSMIC,TCGA,ICGC,
chr3	22483374	22483374	G	C	intergenic	ZNF385D-AS2,UBE2E2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	-,-	ICGC,
chr10	8326415	8326415	C	T	intergenic	LINC00708,LOC101928272	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr18	52455590	52455590	G	A	intergenic	DYNAP,RAB27B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9338229	-	OV-AU|1|93|0.01075	-	-	-,integument phenotype	-,-	COSMIC,ICGC,
chr4	4152363	4152363	T	G	intergenic	FAM86EP,OTOP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,behavior/neurological phenotype	-,-	ICGC,
chr12	81026036	81026036	A	G	exonic	PTPRQ	nonsynonymous	SNV	-	0.001	-	-	-	-	-	-	-	-	LIHC|1|373|0.00268	-	-	-	behavior/neurological phenotype	Deafness, non-syndromic |Hearing loss  |Nonsyndromic hearing impairment DFNB84	TCGA,
chr2	230010011	230010011	G	A	intronic	PID1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17291677	-	ESAD-UK|1|301|0.00332	-	-	-	Anorectal malformation	COSMIC,ICGC,
chr2	234908732	234908732	-	TTA	intronic	TRPM8	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN27872021	-	-	-	-	integument phenotype	-	COSMIC,
chr1	172340307	172340307	G	A	intronic	DNM3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Reduced promoter activity	ICGC,
chr7	106657894	106657894	G	A	intergenic	PIK3CG,PRKAR2B	unknown	SNV	-	-	-	0.0003	-	-	-	-	-	COSN24715946	-	GACA-CN|1|123|0.00813	-	-	integument phenotype,integument phenotype	Altered platelet volume|Chronic infection and pelvic pain,-	COSMIC,ICGC,
chr9	35834047	35834047	-	TCACACACAC	intronic	TMEM8B	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	-	ICGC,
chr12	79842408	79842408	C	T	intronic	SYT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging	-	ICGC,
chr22	27980156	27980156	G	C	intergenic	LINC01422,MN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,mortality/aging	-,-	ICGC,
chr16	84369187	84369187	G	A	intergenic	WFDC1,ATP2C2	unknown	SNV	-	-	-	-	rs527840355	-	0.000199681	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	ICGC,
chr16	85807017	85807017	T	G	intergenic	MIR7851,EMC8	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17414752	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr21	42084876	42084876	C	T	intronic	DSCAM	unknown	SNV	-	-	-	3.228e-05	rs187634175	-	0.00119808	-	0.014	-	-	LICA-FR|1|252|0.00397	-	-	mortality/aging	Bipolar disorder, association with 	ICGC,
chr5	154633410	154633410	A	T	intergenic	KIF4B,SGCD	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2078607	-	LIRI-JP|1|258|0.00388	-	-	-,mortality/aging	-,Muscular dystrophy, limb girdle 2F|Muscular dystrophy, limb girdle 2 |Muscular dystrophy, limb girdle|Cardiomyopathy, dilated|Anorectal malformation	COSMIC,ICGC,
chr2	159759228	159759228	G	T	intergenic	DAPL1,TANC1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,behavior/neurological phenotype	-,Schizophrenia	ICGC,
chrX	137632020	137632020	C	T	intergenic	ZIC3,LINC00889	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Situs abnormality|Heterotaxy|Congenital heart disease |Cardiac malformation,-	ICGC,
chr2	213307289	213307289	A	G	intronic	ERBB4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype	Schizophrenia |Oligohydramnios|Intellectual disability, hyperactivity & speech developmental delay|Increased promoter activity|Hepatocellular carcinoma, increased risk, association with|Epileptic encephalopathy, early infantile 3|Breast and colorectal cancer, association with|Bipolar disorder, association with |Bipolar disorder |Autism spectrum disorder  |Amyotrophic lateral sclerosis type 19	ICGC,
chr3	21768563	21768563	A	T	intronic	ZNF385D	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr11	57443864	57443864	C	T	intronic	ZDHHC5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-	Schizophrenia	ICGC,
chr12	105961602	105961602	C	T	intergenic	C12orf75,CASC18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr11	1388324	1388324	G	A	intergenic	TOLLIP-AS1,BRSK2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Autism	ICGC,
chr5	75943144	75943144	G	T	intronic	IQGAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16691458	-	PACA-CA|1|268|0.00373	-	-	mortality/aging	Potential protein deficiency	COSMIC,ICGC,
chr2	220576939	220576939	G	A	intergenic	SLC4A3,MIR4268	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,-	Epilepsy, idiopathic generalised, association with|Glaucoma, primary congenital,-	ICGC,
chr7	48595764	48595764	A	G	intronic	ABCA13	unknown	SNV	-	-	-	0.1417	rs67074321	-	0.158147	-	0.246	-	-	ESAD-UK|1|301|0.00332	-	-	-	Schizophrenia / depression|Schizophrenia / bipolar disorder / depression |Schizophrenia  |Bipolar disorder  |Autism|Anorectal malformation	ICGC,
chr17	49160922	49160922	-	TTTT	intronic	SPAG9	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	integument phenotype	Schizophrenia	ICGC,
chr10	807497	807497	A	G	intergenic	DIP2C,LARP4B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	EOPC-DE|1|202|0.00495	-	-	-,-	Autism,-	ICGC,
chr16	2351107	2351107	C	T	intronic	ABCA3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Neonatal respiratory distress / interstitial lung disease|Pneumomediastinum|Pneumonia, neonatal interstitial|Pneumonitis, desquamative interstitial|Pulmonary fibrosis  |Pulmonary hypertension|Reduced lung function/increased risk of COPD, association with.|Respiratory distress|Respiratory distress syndrome|Respiratory distress, neonatal |Lung disease, interstitial.|Lung disease, interstitial|ABCA3 deficiency|Cerebropulmonary dysgenetic syndrome|Chronic lung disease |Chronic respiratory insufficiency|Combined pulmonary fibrosis and emphysaema syndrome|Combined pulmonary fibrosis and emphysaema syndrome.|Fatal surfactant deficiency|Interstitial lung disease|Lung disease |Lung disease modifier association with SFTPC mutation	ICGC,
chr17	29088385	29088385	T	G	ncRNA_intronic	SUZ12P1	unknown	SNV	-	-	-	0.1282	rs11653605	-	0.171326	-	0.167	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr12	44871350	44871350	T	G	intergenic	TMEM117,NELL2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,nervous system phenotype	-,-	ICGC,
chr18	6092758	6092758	C	A	intronic	L3MBTL4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-	-	ICGC,
chr10	28462189	28462189	G	A	intronic	MPP7	unknown	SNV	-	-	-	3.285e-05	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	Lower bone mineral density, association with|Intellectual disability, epilepsy and dysmorphisms	ICGC,
chr1	38095340	38095340	G	A	UTR5	RSPO1	unknown	SNV	-	-	1.222e-05	3.232e-05	rs773665489	8.521e-06	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	mortality/aging	XX sex reversal|XX sex reversal, PPK and SCC	ICGC,
chr10	67495355	67495355	C	T	ncRNA_intronic	LOC101928913	unknown	SNV	-	-	-	3.229e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr2	171402880	171402880	G	A	intronic	MYO3B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chrX	34589882	34589882	G	T	intergenic	FAM47A,TMEM47	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	-,Intellectual disability & language delay	ICGC,
chr9	4507759	4507759	T	G	intronic	SLC1A1	unknown	SNV	-	-	-	0.0025	-	-	-	-	-	COSN6391259	-	LIRI-JP|1|258|0.00388	-	-	vision/eye phenotype	Schizophrenia and epilepsy|Psychosis |Obsessive-compulsive disorder |Dicarboxylic aminoaciduria|Autism spectrum disorder 	COSMIC,ICGC,
chrX	83298576	83298576	T	G	intergenic	CYLC1,RPS6KA6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,cardiovascular system phenotype	-,-	ICGC,
chr2	45008222	45008243	CTGAACGACATAATTTGAATTC	-	intergenic	CAMKMT,SIX3-AS1	unknown	deletion	-	-	-	-	-	-	-	-	-	COSN26114081	-	PRAD-UK|1|140|0.00714	-	-	-,-	-,-	COSMIC,ICGC,
chr14	77493647	77493647	-	CGGCG	exonic	IRF2BPL	frameshift	insertion	-	-	-	-	-	-	-	-	-	-	PCPG|1|184|0.00543	-	-	-	-	-	TCGA,
chr9	18746771	18746771	-	A	intronic	ADAMTSL1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	-	-	ICGC,
chrX	24104072	24104072	A	C	intergenic	EIF2S3,ZFX-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	Mental retardation, X-linked|Intellectual disability  ,-	ICGC,
chr5	24178739	24178739	G	A	intergenic	PRDM9,CDH10	unknown	SNV	-	-	-	0.0013	rs189969465	-	0.00239617	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	reproductive system phenotype,-	Altered meiotic recombination hotspot usage|Azoospermia by meiotic arrest, association with |Azoospermia, non-obstructive ,-	ICGC,
chr3	84138924	84138924	-	A	intergenic	NONE,LINC00971	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr3	80500971	80500971	C	T	intergenic	ROBO1,GBE1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	mortality/aging,mortality/aging	Developmental dyslexia ,Potential protein deficiency|Polyglucosan body disease, relapsing-remitting form|Polyglucosan body disease, adult|Lethal multiple pterygium syndrome|Glycogen storage disease 4, non-lethal neuromuscular|Glycogen storage disease 4, neonatal|Glycogen storage disease 4|Autism spectrum disorder|Adult polyglucosan body disease	ICGC,
chr17	26015048	26015048	G	A	intergenic	LGALS9,NOS2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype,integument phenotype	-,Non-Hodgkin lymphoma, increased risk, association with|Pancreatitis, acute, association with|Pre-eclampsia, association with|Protection against silicosis in miners|Schizophrenia|Septic shock, increased risk|Severe sepsis, protection against|Ulcerative colitis, increased risk, association with  |Urinary bladder cancer risk, association with|Vitiligo, increased risk, association with|Multiple sclerosis, association with |Migraine susceptibilty, association with|Malaria, protection against, association with|Aphthous stomatitis, recurrent, association with|Atopy, association with|Atrophic gastritis, association with.|Complications in diabetes, association with|Diabetes, type 2, association with|Diabetic retinopathy, reduced risk, association|Gastric cancer, association with.|Hyperinsulinism|Hypertension, association with|Malaria, association with 	ICGC,
chr7	27420600	27420600	C	T	intergenic	EVX1-AS,HIBADH	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr20	2043724	2043724	C	T	intergenic	PDYN,STK35	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5966805	-	LIRI-JP|1|258|0.00388	-	-	integument phenotype,-	Temporal lobe epilepsy, association with|Spinocerebellar ataxia 23|Schizophrenia, association with|Opioid-dependence, in African Americans, association with|Methamphetamine dependence, association with|Increased transcriptional activity|Cocaine dependence/abuse, protection against, association with|Cerebellar ataxia  |Altered transcriptional activity,-	COSMIC,ICGC,
chr3	40443601	40443601	-	TTTTTTTTT	ncRNA_intronic	ENTPD3-AS1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|3|67|0.04478	-	-	-	-	ICGC,
chr14	60189513	60189513	-	T	intronic	RTN1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	-	-	ICGC,
chr2	1236098	1236098	C	T	intronic	SNTG2	unknown	SNV	-	-	-	0.0001	rs780796639	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-	Autism spectrum disorder  |Schizophrenia  	ICGC,
chr4	93859664	93859664	A	G	intronic	GRID2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Cerebellar ataxia & tonic upgaze|Cerebellar ataxia and atrophy|Schizophrenia|Spastic paraplegia, complicated	ICGC,
chr7	42250517	42250517	T	C	intronic	GLI3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype	Postaxial polydactyly A/B|Postaxial polydactyly B|Preaxial polydactyly|Preaxial polydactyly IV|Preaxial polydactyly IV.|Schizophrenia|Sub-Greig cephalopolysyndactyly syndrome|Sub-Pallister-Hall syndrome|Talipes equinovarus, congential idiopathic, association with |Tooth agenesis, association with|Postaxial polydactyly A |Pallister-Hall syndrome with genital abnormalities|Acrocallosal syndrome|Broad thumbs, postaxial polydactyly & variable syndactyly of hands/feet|Digital anomalies|Greig cephalopolysyndactyly syndrome|Greig cephalopolysyndactyly syndrome & cerebral cavernous malformations|Greig cephalopolysyndactyly syndrome with MODY2|Hypodontia, non-syndromic, association with.|Metopic craniosynostosis|Oral-facial-digital syndrome|Pallister-Hall syndrome	ICGC,
chr2	234685391	234685391	A	G	intronic	MROH2A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-	-	ICGC,
chr19	12604543	12604543	A	-	intergenic	ZNF709,ZNF564	unknown	deletion	-	-	-	-	-	-	-	-	0.138	-	-	LMS-FR|2|67|0.02985	-	-	-,-	-,-	ICGC,
chr1	71046415	71046415	T	G	intergenic	CTH,PTGER3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,integument phenotype	Hyperhomocysteinemia|Cystathioninuria|Cystathionine elevations |Altered homocysteine levels,-	ICGC,
chr21	31914086	31914086	A	T	exonic	KRTAP19-6	nonsynonymous	SNV	-	0.846	-	-	-	-	-	-	-	COSM4392828	PRAD|1|499|0.00200	PRAD-US|1|256|0.00391	-	-	-	-	COSMIC,TCGA,ICGC,
chr6	103444936	103444936	C	T	intergenic	GRIK2,HACE1	unknown	SNV	-	-	-	3.231e-05	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	behavior/neurological phenotype,tumorigenesis	Mental retardation, non-syndromic, autosomal recessive,Wilms tumour 	ICGC,
chr18	63923928	63923928	T	A	intergenic	CDH7,CDH19	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	UTCA-FR|1|20|0.05000	-	-	-,-	-,Tetralogy of Fallot	ICGC,
chr11	23997614	23997614	T	A	intergenic	MIR8054,LUZP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,normal phenotype	-,Anorectal malformation	ICGC,
chrX	76033112	76033112	G	A	ncRNA_intronic	LOC101928469	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr2	53242508	53242508	C	T	intergenic	NRXN1,ASB3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Hypotonia|Hypotonia & encephalopathy|Increased white matter volume, association with|Intellectual disability  |Intellectual disability & attention deficit hyperactivity disorder|Intellectual disability & hearing loss|Intellectual disability & pervasive developmental disorder|Intellectual disability and autism|Intellectual disability, nonsyndromic |Intellectual disability, seizures, dysmorphisms & language delay|Growth retardation  |Epilepsy, myoclonic seizures & speech delay|Developmental disorder|Developmental disorder & attention deficit hyperactivity disorder|Developmental disorder, seizures & attention deficit hyperactivity disorder|Developmental/intellectual disability, hypotonia & dysmorphic features|Disorder of muscle, ligament & fascia|Encephalopathy  |Epilepsy  |Epilepsy with cognitive impairment / autism spectrum disorder|Epilepsy with focal seizures|Epilepsy, generalised |Intellectual disability, seizures, language delay & hypotonia|Language delay|Learning difficulties|Respiratory distress & sepsis|Respiratory distress syndrome|Schizophrenia |Schizophrenia, childhood onset |Schizophrenia, disorganised type|Seizures, generalized tonic-clonic & attention deficit hyperactivity disorder|Sensory integration disorder & attention deficit hyperactivity disorder|Speech delay & social communication difficulties|Tourette syndrome|Pervasive developmental disorder / hypotonia|Pervasive developmental disorder|Pervasive developmental delay / mental retardation, lack of coordination & hearing loss|Learning difficulties, ADHD & autism|Mental retardation|Mental retardation, autism, vertebral malformations|Mental retardation, Pitt-Hopkins-like|Microcephaly & mental retardation|Multiple congenital anomalies  |Multiple disabilities|Myoclonic epilepsy   |Neurodevelopmental disorder  |Vertebral anomalies|Developmental delay, speech delay & social communication difficulties|Attention deficit hyperactivity disorder |Autism spectrum disorder, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability & language delay|Autism spectrum disorder, intellectual disability, dysmorphisms, developmental delay & language delay|Autism spectrum disorder, intellectual disability, seizures & developmental delay|Autism spectrum disorder, intellectual disability, seizures, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability, seizures, dysmorphisms & language delay|Autism spectrum disorder, seizures, developmental delay & language delay|Autism, intellectual disability & attention deficit hyperactivity disorder|Autistic disorder|Autism spectrum disorder with developmental & speech delay|Autism spectrum disorder & seizures|Autism spectrum disorder & language delay|Autism |Autism & learning difficulties|Autism & mental retardation|Autism & seizures|Autism spectrum disorder|Autism spectrum disorder & attention deficit hyperactivity disorder|Autism spectrum disorder & developmental delay|Autism spectrum disorder & dysmorphic features|Autism spectrum disorder & intellectual disability|Behavioural problems|Congenital heart defect  |Craniofacial dysmorphism|Developmental delay & speech/motor delay|Developmental delay with early-onset epilepsy|Developmental delay, dysmorphic features & short stature|Developmental delay, epilepsy, autism|Developmental delay, language delay & hypotonia|Developmental delay, learning difficulties, ADHD|Developmental delay, microcephaly & behavioural problems|Developmental delay, pulmonic stenosis & autism spectrum disorder|Developmental delay, short stature and diaphragmatic hernia|Developmental delay, speech delay & microcephaly|Developmental delay & seizures|Developmental delay & seizure disorder|Cystic hygroma, hydrops & micrognathia|Cystic hygroma, shortened upper limbs & fetal demise|Developmental & speech delay|Developmental delay|Developmental delay / autism|Developmental delay & autism|Developmental delay & dysmorphic features|Developmental delay & epilepsy|Developmental delay & hypotonia|Developmental delay & multiple congenital anomalies,-	ICGC,
chr5	133074913	133074913	C	T	intergenic	FSTL4,C5orf15	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	normal phenotype,-	Saccular intracranial aneurysm, association with|Tetralogy of Fallot,-	ICGC,
chr2	189268420	189268420	A	G	intronic	GULP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	-	ICGC,
chr16	4860002	4860002	G	T	intronic	GLYR1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15209641	-	ESAD-UK|1|301|0.00332	-	-	-	-	COSMIC,ICGC,
chr2	175653616	175653616	C	T	intergenic	CHRNA1,CHN1	unknown	SNV	-	-	-	3.233e-05	-	-	-	-	-	COSN8274028	-	PACA-CA|1|268|0.00373	-	-	mortality/aging,behavior/neurological phenotype	Slow channel myasthenic syndrome|Myasthenia gravis, early onset, association with|Hydrops fetalis, nonimmune|Fetal akinesia deformation sequence disorder|Fast channel myasthenic syndrome|Congenital myasthenic syndrome,Ocular dysmotility|Duane retraction syndrome 2|Duane retraction syndrome  	COSMIC,ICGC,
chr7	3611155	3611155	T	G	intronic	SDK1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr1	195196788	195196788	C	T	intergenic	CDC73,KCNT2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,-	Potential protein deficiency|Parathyroid carcinoma/adenoma|Parathyroid carcinoma.|Parathyroid carcinoma|Parathyroid cancer|Parathyroid adenoma.|Parathyroid adenoma |Hyperparathyroidism, primary.|Hyperparathyroidism, primary|Hyperparathyroidism, isolated|Hyperparathyroidism-jaw tumour syndrome.|Hyperparathyroidism-jaw tumour syndrome,-	ICGC,
chr2	77879534	77879534	C	A	intergenic	LRRTM4,LOC101927967	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17521293	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr2	109934519	109934519	G	A	intronic	SH3RF3	unknown	SNV	-	-	-	0.2972	rs4637156	-	0.338259	-	0.333	-	-	ESAD-UK|2|301|0.00664,LAML-KR|1|205|0.00488	-	-	-	-	ICGC,
chr3	185766469	185766469	G	T	exonic	ETV5	nonsynonymous	SNV	0.671	0.023	-	-	-	-	-	-	-	COSM6273612	-	LICA-CN|1|402|0.00249	-	-	mortality/aging	Male infertility, association with	COSMIC,COSMIC,COSMIC,ICGC,
chr11	41092950	41092950	G	A	intronic	LRRC4C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr2	172482624	172482624	C	G	intergenic	CYBRD1,DYNC1I2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	homeostasis/metabolism phenotype,mortality/aging	Haemochromatosis, phenotype modifier, association with|Iron overload,-	ICGC,
chr2	181997806	181997806	C	T	intergenic	UBE2E3,MIR4437	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr7	138950025	138950025	C	T	intronic	UBN2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Autism	ICGC,
chr1	66731765	66731765	C	A	exonic	PDE4B	nonsynonymous	SNV	0.34	0.001	-	-	-	-	-	-	-	COSM5010556	-	-	-	-	mortality/aging	Psychiatric disorder |Schizophrenia	COSMIC,COSMIC,
chr17	66947802	66947802	A	G	intronic	ABCA8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	Potential protein deficiency|Low HDL cholesterol	ICGC,
chr4	95100246	95100246	T	A	intergenic	ATOH1,SMARCAD1	unknown	SNV	-	-	-	0.0002	-	-	-	-	-	-	-	LIRI-JP|2|258|0.00775	-	-	mortality/aging,mortality/aging	-,Capecitabine sensitivity, association with	ICGC,
chr8	135788649	135788649	C	T	intergenic	ZFAT,MIR30B	unknown	SNV	-	-	-	6.458e-05	-	-	-	-	-	COSN7666511	-	PACA-CA|1|268|0.00373	-	-	mortality/aging,-	Autoimmune thyroid disease, association with,-	COSMIC,ICGC,
chr11	124237079	124237079	C	T	intergenic	OR8D2,OR8B2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23490751	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr14	30163099	30163099	A	C	ncRNA_intronic	MIR548AI	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr7	143016896	143016896	G	C	exonic	CLCN1	nonsynonymous	SNV	0.128	0.005	-	-	-	-	-	-	-	COSM6007406	-	-	-	-	integument phenotype	Schizophrenia  |Myotonia, Thomsen|Myotonia, non-dystrophic.|Myotonia, non-dystrophic|Myotonia, generalised|Myotonia, Becker.|Myotonia, Becker with Prinzmetal angina pectoris & lipomatosis|Myotonia, Becker|Myotonia levior|Myotonia congenita|Myotonia and epilepsy|Myotonia |EMG disease.	COSMIC,
chr1	163563179	163563179	T	A	intergenic	LOC100422212,PBX1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Schizophrenia	ICGC,
chr5	120709273	120709273	G	C	intergenic	LOC102467226,FTMT	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23782526	-	ORCA-IN|1|178|0.00562	-	-	-,normal phenotype	-,Macular degeneration, age related	COSMIC,ICGC,
chr3	2377944	2377944	T	C	intronic	CNTN4	unknown	SNV	-	-	-	0.6783	rs1178547	-	0.738618	-	0.725	-	-	ESAD-UK|1|301|0.00332	-	-	nervous system phenotype	Spinocerebellar ataxia 16 |Features of 3p deletion syndrome|Autism spectrum disorder |Autism	ICGC,
chr13	38468615	38468615	G	A	intergenic	TRPC4,LINC00571	unknown	SNV	-	-	-	6.474e-05	rs551093094	-	0.000199681	-	-	-	-	MELA-AU|3|183|0.01639	-	-	cardiovascular system phenotype,-	Myocardial infarction, reduced risk, association with,-	ICGC,
chr9	110900034	110900034	-	T	intergenic	KLF4,ACTL7B	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN14727043	-	-	-	-	integument phenotype,-	-,Schizophrenia	COSMIC,
chr2	83835476	83835476	T	A	intergenic	LOC1720,FUNDC2P2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	-,-	ICGC,
chr4	96135692	96135692	G	A	intronic	UNC5C	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN18799908	-	-	-	-	mortality/aging	Colorectal cancer  |Reduced proapoptotic activity	COSMIC,
chr22	33629626	33629626	C	T	intergenic	SYN3,LARGE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	cellular phenotype,mortality/aging	Schizophrenia, association with ,Alpha-dystroglycanopathy |Autism, non-complex|Fukushima congenital muscular dystrophy|Muscular dystrophy, congenital 1D|Walker-Warburg syndrome|Walker-Warburg syndrome.	ICGC,
chr3	4865307	4865307	C	G	intronic	ITPR1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7699726	-	PACA-AU|1|391|0.00256	-	-	mortality/aging	Spinocerebellar ataxia, congenital nonprogressive|Spinocerebellar ataxia type 16|Spinocerebellar ataxia type 15|Spinocerebellar ataxia 15/29|Spinocerebellar ataxia 15/16|Spinocerebellar ataxia 15|Schizophrenia  |Potential protein deficiency	COSMIC,ICGC,
chr15	26616830	26616830	G	T	intergenic	LINC00929,GABRB3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,Neurological deficits of Angelman syndrome|Mesial temporal lobe epilepsy with depression, association with|Increased promoter activity|Epilepsy, childhood absence, association with|Chronic insomnia |Autism, association with |Autism spectrum disorder|Anorectal malformation	ICGC,
chr22	48205680	48205680	G	T	ncRNA_intronic	LOC284930	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr2	180050410	180050410	-	ATATACA	intronic	SESTD1	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN23246941	-	-	-	-	-	-	COSMIC,
chr2	74181905	74181905	G	A	intronic	DGUOK	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	Neonatal hemochromatosis |Mitochondrial myopathy  |Mitochondrial DNA depletion syndrome.|Mitochondrial DNA depletion syndrome|Hepatic failure|Acute liver failure ?	ICGC,
chr8	40198780	40198780	T	C	intergenic	C8orf4,ZMAT4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-,-	-,-	ICGC,
chr18	14542640	14542640	C	A	exonic	POTEC	nonsynonymous	SNV	0.003	0.897	-	-	-	-	-	-	-	-	SARC|1|247|0.00405	-	-	-	-	-	TCGA,
chr8	115079093	115079093	T	A	intergenic	CSMD3,TRPS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-,integument phenotype	Schizophrenia  |Colorectal cancer ,Tricho-rhino-phalangeal syndrome with supernumerary teeth|Tricho-rhino-phalangeal syndrome III|Tricho-rhino-phalangeal syndrome I|Tricho-rhino-phalangeal syndrome|Infantile scoliosis & developmental delay|Femoral neck width, association with|Ambras syndrome	ICGC,
chr14	65236340	65236340	GGG	GAA	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	COSM4567161	-	-	-	-	-	-	COSMIC,COSMIC,
chr3	59381607	59381607	T	A	intergenic	C3orf67,FHIT	unknown	SNV	-	-	-	0.0018	-	-	-	-	-	-	-	PBCA-US|9|186|0.04839	-	-	-,integument phenotype	-,-	ICGC,
chr2	216376573	216376573	T	-	intergenic	LOC102724849,LINC00607	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	ICGC,
chr5	80418534	80418534	G	A	intronic	RASGRF2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BOCA-UK|1|130|0.00769	-	-	hematopoietic system phenotype	-	ICGC,
chr6	95145377	95145377	A	T	intergenic	TSG1,MANEA-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2185934	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr8	65756676	65756676	G	A	intergenic	CYP7B1,LINC00251	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype,-	Spastic paraplegia 5a.|Spastic paraplegia 5a|Spastic paraplegia 5 with sensory ataxia|Spastic paraplegia 5|Spastic paraplegia|Increased transcriptional activity|HIV 1 infection, reduced risk, association with|Cholestasis, severe,-	ICGC,
chr4	158338513	158338513	C	T	intergenic	GRIA2,LOC340017	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Intellectual disability  ,-	ICGC,
chr10	97503791	97503791	-	ATATAT	intronic	ENTPD1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|2|67|0.02985	-	-	hematopoietic system phenotype	Spastic paraplegia 64|Intellectual disability  	ICGC,
chr1	47637435	47637435	G	A	intergenic	CYP4A22,LINC00853	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|2|183|0.01093	-	-	-,-	Null allele,-	ICGC,
chr7	144976107	144976107	C	T	intergenic	TPK1,CNTNAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	Thiamine pyrophosphokinase deficiency|Leigh-like disease|Colorectal cancer, increased risk, association with |Autism,Gilles de la Tourette syndrome|Intellectual disability  |Learning disability & speech problems|Mental retardation |Mental retardation, Pitt-Hopkins-like|Multiple congenital anomalies  |Seizures, neonatal |Speech delay  |Stuttering |Epileptic encephalopathy  |Epilepsy and schizophrenia|Autism|Autism spectrum disorder |Autism spectrum disorder, modifier of|Childhood apraxia of speech|Cortical dysplasia-focal epilepsy syndrome|Developmental and/or speech and/or behavioural problems|Developmental delay  |Developmental delay & dysmorphic features|Dyslexia 	ICGC,
chr4	183235139	183235139	C	T	intergenic	MIR1305,TENM3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Microphthalmia  	ICGC,
chr11	41615010	41615010	A	G	intergenic	LRRC4C,LOC102723644	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15008042	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr6	114873425	114873425	-	T	intergenic	HS3ST5,FRK	unknown	insertion	-	-	-	0.0442	-	-	-	-	-	COSN27599515	-	-	-	-	-,homeostasis/metabolism phenotype	-,Potential protein deficiency	COSMIC,
chr5	83858312	83858312	G	T	intergenic	EDIL3,NBPF22P	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24765564	-	GACA-CN|1|123|0.00813	-	-	immune system phenotype,-	Schizophrenia  ,-	COSMIC,ICGC,
chr5	41106327	41106327	G	A	intergenic	MROH2B,C6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,cardiovascular system phenotype	-,Complement C6 deficiency, subtotal|Complement C6 deficiency	ICGC,
chr15	34543178	34543178	A	G	exonic	SLC12A6	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM3500551	SKCM|1|368|0.00272	SKCM-US|1|335|0.00299	-	-	integument phenotype	Peripheral neuropathy and corpus callosum agenesis|Motor & sensory neuropathy and corpus callosum agenesis|Bipolar disorder, association with |Andermann syndrome	COSMIC,COSMIC,COSMIC,TCGA,ICGC,
chr4	8952756	8952756	T	G	downstream	LOC650293	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-	-	ICGC,
chr9	106590417	106590417	G	C	intergenic	LOC101928496,LOC101928523	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	ICGC,
chr7	155511353	155511353	T	A	intronic	RBM33	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	-	ICGC,
chr13	45156056	45156056	A	C	intergenic	TSC22D1-AS1,LINC00330	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5338556	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr9	138324614	138324614	G	A	intergenic	C9orf62,PPP1R26-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr6	1377586	1377586	C	T	intergenic	FOXQ1,FOXF2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	integument phenotype,mortality/aging	-,Disorders of sex development with cleft palate 	ICGC,
chr14	106096241	106096241	G	T	intergenic	MIR8071-2,MIR8071-2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr6	132111473	132111473	C	T	intergenic	ENPP3,ENPP1	unknown	SNV	-	-	-	3.766e-05	-	-	-	-	-	COSN19352163	-	-	-	-	-,integument phenotype	-,Major cardiovascular events in high risk individuals|Myelopathy (OPLL)|Myelopathy (OPLL), association with|Obesity & type 2 diabetes, association with|Obesity in metabolic syndrome, association with|Obesity, association with|Pseudoxanthoma elasticum|Rickets, hypophosphataemic|Rickets, hypophosphataemic & OPLL|Rickets, hypophosphataemic, autosomal recessive|Stroke, reduced risk in sickle cell anaemia|Liver damage in NAFLD|Insulin resistance, association with|Chondrocalcinosis, association with.|Cole disease|Decreased kidney function|Diabetes, association with |Diabetes, type 2, association with.|Diabetic nephropathy, increased risk, association with|Generalized arterial calcification of infancy|Generalized arterial calcification of infancy and pseudoxanthoma elasticum|Hypertriglyceridaemia in males, association with|Hypertriglyceridemia in males, association with|Idiopathic infantile arterial calcification	COSMIC,
chr3	176898527	176898527	-	TT	intronic	TBL1XR1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|4|71|0.05634	-	-	-	Autism	ICGC,
chr10	133961648	133961648	-	TAACAT	intronic	JAKMIP3	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	-	ICGC,
chr8	826473	826473	T	C	ncRNA_intronic	ERICH1-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	UTCA-FR|1|20|0.05000	-	-	-	-	ICGC,
chr2	125953833	125953833	T	C	intergenic	CNTNAP5,GYPC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	Autism,Glycophorin C variant|Gerbich-negative blood group|Elliptocytosis|Duch blood group	ICGC,
chr6	85380975	85380975	G	A	intergenic	CEP162,TBX18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Autism	ICGC,
chr3	104120528	104120528	A	T	intergenic	MIR548A3,ALCAM	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,vision/eye phenotype	-,Breast cancer, increased risk, association with  |Schizophrenia	ICGC,
chr13	97186497	97186497	A	C	intronic	HS6ST3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	-	ICGC,
chr4	67327613	67327613	C	T	intergenic	EPHA5-AS1,LOC101927237	unknown	SNV	-	-	-	0.4549	rs2351160	-	0.4377	-	0.239	-	-	LAML-KR|1|205|0.00488	-	-	-,-	-,-	ICGC,
chr7	97100379	97100379	A	G	intergenic	ACN9,TAC1	unknown	SNV	-	-	-	0.6248	rs1861381	-	0.598442	-	0.580	-	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	Long QT syndrome, drug-induced, increased risk,-	ICGC,
chr4	134505869	134505869	C	T	intergenic	PCDH10,PABPC4L	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6799814	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging,-	Schizophrenia|Potential protein deficiency,Autism spectrum disorder  	COSMIC,ICGC,
chr8	144036479	144036479	CC	TT	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr14	41634637	41634637	C	T	intergenic	LOC644919,LRFN5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,Short stature|Developmental delay, seizures & learning problems 	ICGC,
chrX	1461492	1461492	C	T	intronic	IL3RA	unknown	SNV	-	-	-	4.564e-05	-	-	-	-	-	COSN4977552	-	-	-	-	hematopoietic system phenotype	-	COSMIC,
chr7	18439833	18439833	G	A	intronic	HDAC9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Peters' anomaly |Immunodeficiency, common variable, association with  	ICGC,
chr3	39720250	39720250	C	T	intergenic	MOBP,MYRIP	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,-	-,-	ICGC,
chr10	87634733	87634733	C	T	intronic	GRID1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	skeleton phenotype	Autism spectrum disorder, association with	ICGC,
chr7	128482288	128482288	G	A	exonic	FLNC	nonsynonymous	SNV	0.107	0.979	0.0011	0.0009	rs192725607	0.0011	0.000199681	0.0002	0.007	-	-	-	Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant	-	integument phenotype	Arrhythmia & myofibrillar myopathy, late-onset|Distal myopathy|Muscular dystrophy, limb-girdle|Myopathy, myofibrillar	ClinVar,
chr3	148558554	148558554	G	T	exonic	CPB1	nonsynonymous	SNV	0.068	1.0	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr18	47884793	47884793	C	A	intergenic	CXXC1,SKA1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	-,-	ICGC,
chrY	16782429	16782429	T	G	intronic	NLGN4Y	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-	Autism  	ICGC,
chr1	142638433	142638433	C	A	intergenic	NONE,ANKRD20A12P	unknown	SNV	-	-	-	0.2547	rs2841842	-	-	-	-	COSN28137296	-	LAML-KR|1|205|0.00488,PRAD-CA|1|308|0.00325,SKCA-BR|1|100|0.01000	-	-	-,-	-,-	COSMIC,COSMIC,COSMIC,COSMIC,ICGC,
chr8	10011167	10011167	G	A	intronic	MSRA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	mortality/aging	-	ICGC,
chr3	2188331	2188331	A	T	intronic	CNTN4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	nervous system phenotype	Spinocerebellar ataxia 16 |Features of 3p deletion syndrome|Autism spectrum disorder |Autism	ICGC,
chr15	60469701	60469701	G	A	intergenic	FOXB1,ANXA2	unknown	SNV	-	-	-	-	rs192877495	-	0.000199681	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,hematopoietic system phenotype	-,-	ICGC,
chr14	87004908	87004908	G	A	intergenic	LOC101928767,LOC283585	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr14	97832135	97832135	C	T	intergenic	LINC00618,LOC101929241	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|2|100|0.02000	-	-	-,-	-,-	ICGC,
chr2	30572979	30572979	G	A	ncRNA_exonic	LOC285043	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr3	97977560	97977560	GG	AA	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr17	77955638	77955638	A	C	intronic	TBC1D16	unknown	SNV	-	-	-	0.1389	rs72848404	-	0.110423	-	0.058	-	-	LAML-KR|1|205|0.00488	-	-	-	-	ICGC,
chr9	140772401	140772401	G	A	exonic	CACNA1B	nonsynonymous	SNV	0.002	0.978	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Schizophrenia  |Asperger syndrome	ICGC,
chr7	16391692	16391692	G	A	intronic	ISPD	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	Walker-Warburg syndrome / muscle-eye-brain disease|Walker-Warburg syndrome|Muscular dystrophy, limb girdle with mental retardation|Muscular dystrophy, limb girdle with cerebellar involvement|Muscular dystrophy, limb girdle|Muscular dystrophy, congenital|Muscle-eye-brain disease|Cobblestone lissencephaly	ICGC,
chr9	12272033	12272033	T	C	intergenic	PTPRD-AS2,TYRP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,integument phenotype	-,Albinism, oculocutaneous  |Albinism, oculocutaneous 3|Melanesian blond hair	ICGC,
chr10	70794027	70794027	G	A	intergenic	KIAA1279,SRGN	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,hematopoietic system phenotype	Goldberg-Shprintzen syndrome|Polymicrogyria  ,-	ICGC,
chr19	6495079	6495079	G	C	UTR3	TUBB4A	unknown	SNV	-	-	-	0.0678	rs449824	-	0.0974441	-	0.087	-	-	LUSC-KR|1|170|0.00588	Dystonia|Leukodystrophy,_hypomyelinating,_6	-	-	Dystonia 4|Hypomyelination with atrophy of the basal ganglia and cerebellum|Spastic paraparesis, segmental dystonia, intellectual disability, and behavioural problems	ClinVar,ICGC,
chr10	10472075	10472075	T	C	ncRNA_intronic	LOC101928322	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5276510	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr11	106184740	106184740	C	G	intergenic	LOC101928535,GUCY1A2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,hematopoietic system phenotype	-,-	ICGC,
chr3	46200423	46200423	G	A	intergenic	XCR1,CCR1	unknown	SNV	-	-	-	9.687e-05	-	-	-	-	-	COSN5536651	-	LIRI-JP|1|258|0.00388	-	-	immune system phenotype,mortality/aging	-,Alzheimer's disease, association with	COSMIC,ICGC,
chr1	30721191	30721191	G	A	intergenic	LOC101929406,MATN1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21009712	-	BRCA-EU|1|569|0.00176	-	-	-,skeleton phenotype	-,-	COSMIC,ICGC,
chr21	43353913	43353913	T	C	intronic	C2CD2	unknown	SNV	-	-	-	0.8543	rs8128169	-	0.747604	-	0.775	-	-	LAML-KR|1|205|0.00488	-	-	-	-	ICGC,
chr12	95527951	95527951	G	A	intronic	FGD6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chrX	21183856	21183856	C	T	intergenic	RPS6KA3,CNKSR2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20995552	-	BRCA-EU|1|569|0.00176	-	-	integument phenotype,-	Mental retardation, non-specific|Intellectual disability, X-linked & Coffin-Lowry syndrome|Intellectual disability, X-linked|Coffin-Lowry syndrome|Autism,Intellectual disability, X-linked non-syndromic	COSMIC,ICGC,
chr8	64026281	64026281	G	A	intergenic	TTPA,YTHDF3-AS1	unknown	SNV	-	-	-	3.24e-05	-	-	-	-	-	COSN26189133	-	PRAD-UK|1|140|0.00714	-	-	vision/eye phenotype,-	Spinocerebral dysfunction|Schizophrenia|Ataxia, isolated vitamin E deficiency & retinitis pigmentosa|Ataxia, isolated vitamin E deficiency|Ataxia with vitamin E deficiency |Alpha-tocopherol transfer protein deficiency,-	COSMIC,ICGC,
chr2	97744156	97744156	G	T	intergenic	FAM178B,FAHD2B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr19	20441882	20441882	A	G	intergenic	ZNF486,MIR1270	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6139424	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr6	21238859	21238859	A	G	intergenic	CDKAL1,LINC00581	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5627517	-	LIRI-JP|1|258|0.00388	-	-	cellular phenotype,-	Hyperinsulism,-	COSMIC,ICGC,
chr1	56593612	56593612	G	A	intergenic	MIR4422,PPAP2B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,-	ICGC,
chrX	90720823	90720823	C	T	intergenic	PABPC5,PCDH11X	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	-,-	-,Absent speech, intellectual disability & behavioural problems|Attention deficit hyperactivity disorder & obsessive compulsive disorder|Developmental dyslexia |Language delay, nonsyndromic 	ICGC,
chr10	77623434	77623434	T	C	intronic	C10orf11	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN10072793	-	RECA-EU|1|422|0.00237	-	-	-	Albinism, autosomal recessive|Mental retardation 	COSMIC,ICGC,
chr3	178947211	178947211	G	C	exonic	PIK3CA	nonsynonymous	SNV	0.032	0.997	-	-	-	-	-	-	-	-	-	ORCA-IN|1|178|0.00562	-	-	mortality/aging	Cowden / Cowden-like syndrome  |Megalencephaly-capillary malformation|Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome	ICGC,
chr21	47271385	47271385	C	A	intronic	PCBP3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr2	60016389	60016389	G	A	intergenic	LOC101927285,MIR4432	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr13	101381046	101381046	G	A	ncRNA_intronic	NALCN-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr9	85440977	85440977	G	A	intergenic	SPATA31D1,RASEF	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr6	141635481	141635481	T	C	intergenic	MIR4465,NMBR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,behavior/neurological phenotype	-,-	ICGC,
chr8	36626169	36626172	TTTT	-	intergenic	UNC5D,KCNU1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,reproductive system phenotype	-,Schizophrenia  	ICGC,
chr1	159055808	159055808	T	C	intergenic	AIM2,CADM3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6004784	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging,nervous system phenotype	-,-	COSMIC,ICGC,
chr3	146225765	146225765	G	A	intergenic	PLSCR2,PLSCR1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,hematopoietic system phenotype	-,-	ICGC,
chr4	82933121	82933121	G	C	intergenic	RASGEF1B,HNRNPD	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27823444	-	UTCA-FR|1|20|0.05000	-	-	-,immune system phenotype	Mental retardation, in chromosome 4q21 deletion syndrome,-	COSMIC,COSMIC,ICGC,
chr4	155857764	155857764	C	T	intergenic	RBM46,NPY2R	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Huntington disease, age at onset, association with|Severe obesity, in men, association with|Obesity, association with|Obesity |Increased expression levels|Hypertension reduced risk	ICGC,
chr11	38889996	38889996	G	A	intergenic	LOC101928536,LRRC4C	unknown	SNV	-	-	-	0.0001	rs142453141	-	-	-	-	COSN16586790	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	COSMIC,ICGC,
chr13	104348915	104348915	A	G	intergenic	MIR548AS,DAOA-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr14	75574206	75574206	G	T	intronic	NEK9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr8	84121742	84121742	C	T	intergenic	SNX16,LINC01419	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	101119444	101119444	C	G	intergenic	DDIT4L,EMCN	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6787396	-	LIRI-JP|1|258|0.00388	-	-	-,-	Potential protein deficiency,-	COSMIC,ICGC,
chr6	83300806	83300806	C	T	intergenic	TPBG,UBE3D	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	-,-	ICGC,
chr2	199423741	199423741	G	A	intergenic	LOC101927619,SATB2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Toriello-Carey syndrome|Pierre Robin sequence  |Intellectual disability, nonsyndromic|Dentofacial abnormalities|Cleft palate, osteoporosis and cognitive defects|Cleft palate|Autism spectrum disorder	ICGC,
chr10	18359423	18359423	-	A	intergenic	SLC39A12,CACNB2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,mortality/aging	-,Schizophrenia  |Rapid ventricular tachycardia & intraventricular conduction delay|Early repolarization syndrome|Cardiac arrhythmia|Brugada syndrome (shorter-than-normal QT interval)|Brugada syndrome|Aortic regurgutation|Altered function|Ventricular fibrillation, idiopathic	ICGC,
chr6	101760020	101760020	T	A	intergenic	ASCC3,GRIK2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	other phenotype,behavior/neurological phenotype	Colorectal cancer, increased risk, association with|Intellectual disability  ,Mental retardation, non-syndromic, autosomal recessive	ICGC,
chr10	44855458	44855458	C	T	intergenic	LOC100130539,CXCL12	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Increased susceptibility to HIV type 1 infection|HIV-1 disease progression, association with|Disease progression in HIV, association with.|Delayed onset of AIDS, association with|Coronary artery disease, susceptibility to|Chronic myeloproliferative disease, association with	ICGC,
chr8	132873043	132873043	G	T	intergenic	ADCY8,EFR3A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	integument phenotype,-	Myocardial infarction  ,Autism|Potential protein deficiency	ICGC,
chr3	130781901	130781901	C	T	intronic	NEK11	unknown	SNV	-	-	-	0.0003	rs553985746	-	0.000599042	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr11	133311772	133311772	C	G	intronic	OPCML	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16232332	-	PRAD-CA|1|308|0.00325	-	-	no phenotypic analysis	Autism spectrum disorder  	COSMIC,ICGC,
chr12	11133916	11133916	A	C	ncRNA_intronic	PRH1-PRR4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-	-	ICGC,
chr4	176497356	176497356	T	A	intergenic	ADAM29,GPM6A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,reproductive system phenotype	-,Claustrophobia, association with	ICGC,
chrX	42663125	42663125	A	C	intergenic	PPP1R2P9,LOC101927501	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15940804	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	COSMIC,ICGC,
chr3	195171689	195171689	A	G	intergenic	ACAP2,MIR5692C1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7599808	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	COSMIC,ICGC,
chr7	86724624	86724624	-	GACACA	intergenic	KIAA1324L,DMTF1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,integument phenotype	-,-	ICGC,
chr7	134250298	134250298	G	A	intronic	AKR1B15	unknown	SNV	-	-	-	-	-	-	-	-	-	-	SKCM|1|368|0.00272	-	-	-	-	-	TCGA,
chr5	6247508	6247508	C	T	intergenic	ICE1,FLJ33360	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	64242506	64242506	T	C	intergenic	PRICKLE2,ADAMTS9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	behavior/neurological phenotype,integument phenotype	Autism spectrum disorder|Autism spectrum disorder ?|Myoclonus epilepsy ,-	ICGC,
chr1	107566677	107566677	G	A	intergenic	NONE,PRMT6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	90211496	90211496	C	T	intronic	GPR98	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging	Usher syndrome 3|Usher syndrome 2|Usher syndrome 1|Usher syndrome|Retinitis pigmentosa|Hearing loss, progressive  |Febrile and afebrile seizures|Deafness, non-syndromic|Deafness  |Autism	ICGC,
chr3	181018389	181018389	C	T	ncRNA_intronic	SOX2-OT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-	-	ICGC,
chr18	62949776	62949776	T	C	intergenic	LOC284294,CDH7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr14	98115277	98115277	A	T	ncRNA_intronic	LOC100129345	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	-	ICGC,
chr1	196546650	196546650	C	T	intronic	KCNT2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr8	110917401	110917401	T	C	intergenic	SYBU,KCNV1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24983720	-	LICA-FR|1|252|0.00397	-	-	-,behavior/neurological phenotype	-,-	COSMIC,ICGC,
chr16	73765364	73765364	-	T	intergenic	LOC100506172,LOC101928035	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|4|71|0.05634	-	-	-,-	-,-	ICGC,
chr5	64017641	64017641	T	A	UTR3	SREK1IP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	-	-	ICGC,
chr20	34631583	34631583	A	C	intergenic	CNBD2,LINC00657	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	ICGC,
chr8	23952029	23952029	C	G	intergenic	STC1,ADAM28	unknown	SNV	-	-	-	3.265e-05	-	-	-	-	-	COSN9259835	-	RECA-EU|1|422|0.00237	-	-	reproductive system phenotype,-	-,-	COSMIC,ICGC,
chr5	172671540	172671540	A	C	intergenic	NKX2-5,STC2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,reproductive system phenotype	Wenckebach periodicity|Ventricular septal defect, association with|Ventricular septal defect|Thyroid dysgenesis|Tetralogy of Fallot|Isolated congenital asplenia|Hypoplastic left heart syndrome|Congenital heart disease.|Congenital heart disease, non-syndromic|Congenital heart disease, association with|Congenital heart disease & cardiomyopathy, adult-onset|Accessory atrioventricular connection |Atrial fibrillation|Atrial isomerism|Atrial septal defect|Atrioventricular septal defect |Cardiac disease|Cardiac disease, modifier of|Congenital heart disease ,-	ICGC,
chr12	23173515	23173515	C	A	intergenic	ETNK1,LOC101928441	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr14	91933369	91933369	G	C	intronic	SMEK1	unknown	SNV	-	-	-	0.0159	rs151031473	-	0.00858626	-	0.014	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr10	111580488	111580488	G	A	intergenic	RNU6-53P,XPNPEP1	unknown	SNV	-	-	-	0.0003	rs562895936	-	0.000199681	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr12	114502777	114502777	G	A	intergenic	RBM19,TBX5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN18911407	-	-	-	-	mortality/aging,mortality/aging	-,Atrial septal defects & postaxial hexodactyly|Congenital heart disease |Congenital heart disease.|Holt-Oram syndrome|Holt-Oram syndrome & ulnar-mammary syndrome	COSMIC,
chr8	26282502	26282502	G	A	intergenic	BNIP3L,PNMA2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging,-	-,-	ICGC,
chr3	7748133	7748133	A	G	intronic	GRM7	unknown	SNV	-	-	-	0.6820	rs459111	-	0.782348	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Schizophrenia, association with  |Autism |Attention deficit hyperactivity disorder	ICGC,
chr19	56259039	56259039	C	T	intergenic	NLRP9,RFPL4A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr8	130377728	130377728	G	A	intergenic	LINC00977,GSDMC	unknown	SNV	-	-	-	0.0164	rs115339058	-	0.0185703	-	0.043	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr7	108626969	108626969	C	A	intergenic	C7orf66,EIF3IP1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17632921	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chrY	59012589	59012589	C	A	intergenic	NONE,SPRY3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,Altered meiotic recombination hotspot usage	ICGC,
chr8	93289377	93289377	G	T	intergenic	RUNX1T1,FLJ46284	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	integument phenotype,-	Intellectual disability  ,-	ICGC,
chr2	220412692	220412692	C	-	exonic	TMEM198	frameshift	deletion	-	-	-	-	-	-	-	-	-	-	KIPAN|1|799|0.00125,KIRC|1|451|0.00222	KIRC-US|1|408|0.00245	-	-	-	-	TCGA,ICGC,
chr9	7303297	7303297	T	C	intergenic	KDM4C,TMEM261	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	integument phenotype,-	Upper aerodigestive tract cancer, association with,-	ICGC,
chr4	110711725	110711725	C	T	intronic	CFI	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	homeostasis/metabolism phenotype	Hemolysis, elevated liver enzymes & low platelet count|Macular degeneration, age related|Macular degeneration, age-related|Membranoproliferative glomerulonephritis|Membranoproliferative glomerulonephritis, type I|Membranoproliferative glomerulonephritis, type I.|Preeclampsia|Thrombotic microangiopathy following kidney transplantation|Thrombotic microangiopathy following transplantation|Haemolytic uraemic syndrome, Streptococcus pneumoniae-associated.|Haemolytic uraemic syndrome, atypical.|Acute haemorrhagic leukoencephalitis|Age related macular degeneration, association with |Age-related macular degeneration, association with|C3 glomerulonephritis|Complement factor I deficiency|Complement factor I deficiency, association with |Complement factor I deficiency.|Haemolytic uraemic syndrome|Haemolytic uraemic syndrome, atypical	ICGC,
chrX	58358432	58358432	G	A	intergenic	ZXDA,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	ICGC,
chr2	50142484	50142484	T	G	intergenic	FSHR,NRXN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,mortality/aging	Ovarian hyperstimulation syndrome|Ovarian hyperstimulation syndrome, association with|PCOS, association|PCOS, association with|Poor ovarian response to gonadotrophin stimulation, association|Premature ovarian failure|Premature ovarian failure, association with|Premature ovarian failure, early-onset|Primary amenorrhea|Reduced mRNA and protein expression, association with|Secondary amenorrhea|Serum FSH levels, association with|Sterility|Twinning, dizygotic|Ovarian hyperstimulation response, association with|Ovarian cancer, association with|Ovarian cancer susceptibility, association with|Decr. total testes volume and altered serum reproductive hormone levels, in men, association with.|Decreased promoter activity|Endometriosis risk, association with|Endometriosis, risk, association with|FSHR activation|FSHR inactivation|Hormone levels in PCOS, association with|Hypergonadotropic hypogonadism|Menstrual cycle, length, association with|Lower basal FSH level, association with|Increased serum FSH levels, association with|Increased promoter activity|Hypertension, female, association with|Hypergonadotropic ovarian failure,Hypotonia|Hypotonia & encephalopathy|Increased white matter volume, association with|Intellectual disability  |Intellectual disability & attention deficit hyperactivity disorder|Intellectual disability & hearing loss|Intellectual disability & pervasive developmental disorder|Intellectual disability and autism|Intellectual disability, nonsyndromic |Intellectual disability, seizures, dysmorphisms & language delay|Growth retardation  |Epilepsy, myoclonic seizures & speech delay|Developmental disorder|Developmental disorder & attention deficit hyperactivity disorder|Developmental disorder, seizures & attention deficit hyperactivity disorder|Developmental/intellectual disability, hypotonia & dysmorphic features|Disorder of muscle, ligament & fascia|Encephalopathy  |Epilepsy  |Epilepsy with cognitive impairment / autism spectrum disorder|Epilepsy with focal seizures|Epilepsy, generalised |Intellectual disability, seizures, language delay & hypotonia|Language delay|Learning difficulties|Respiratory distress & sepsis|Respiratory distress syndrome|Schizophrenia |Schizophrenia, childhood onset |Schizophrenia, disorganised type|Seizures, generalized tonic-clonic & attention deficit hyperactivity disorder|Sensory integration disorder & attention deficit hyperactivity disorder|Speech delay & social communication difficulties|Tourette syndrome|Pervasive developmental disorder / hypotonia|Pervasive developmental disorder|Pervasive developmental delay / mental retardation, lack of coordination & hearing loss|Learning difficulties, ADHD & autism|Mental retardation|Mental retardation, autism, vertebral malformations|Mental retardation, Pitt-Hopkins-like|Microcephaly & mental retardation|Multiple congenital anomalies  |Multiple disabilities|Myoclonic epilepsy   |Neurodevelopmental disorder  |Vertebral anomalies|Developmental delay, speech delay & social communication difficulties|Attention deficit hyperactivity disorder |Autism spectrum disorder, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability & language delay|Autism spectrum disorder, intellectual disability, dysmorphisms, developmental delay & language delay|Autism spectrum disorder, intellectual disability, seizures & developmental delay|Autism spectrum disorder, intellectual disability, seizures, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability, seizures, dysmorphisms & language delay|Autism spectrum disorder, seizures, developmental delay & language delay|Autism, intellectual disability & attention deficit hyperactivity disorder|Autistic disorder|Autism spectrum disorder with developmental & speech delay|Autism spectrum disorder & seizures|Autism spectrum disorder & language delay|Autism |Autism & learning difficulties|Autism & mental retardation|Autism & seizures|Autism spectrum disorder|Autism spectrum disorder & attention deficit hyperactivity disorder|Autism spectrum disorder & developmental delay|Autism spectrum disorder & dysmorphic features|Autism spectrum disorder & intellectual disability|Behavioural problems|Congenital heart defect  |Craniofacial dysmorphism|Developmental delay & speech/motor delay|Developmental delay with early-onset epilepsy|Developmental delay, dysmorphic features & short stature|Developmental delay, epilepsy, autism|Developmental delay, language delay & hypotonia|Developmental delay, learning difficulties, ADHD|Developmental delay, microcephaly & behavioural problems|Developmental delay, pulmonic stenosis & autism spectrum disorder|Developmental delay, short stature and diaphragmatic hernia|Developmental delay, speech delay & microcephaly|Developmental delay & seizures|Developmental delay & seizure disorder|Cystic hygroma, hydrops & micrognathia|Cystic hygroma, shortened upper limbs & fetal demise|Developmental & speech delay|Developmental delay|Developmental delay / autism|Developmental delay & autism|Developmental delay & dysmorphic features|Developmental delay & epilepsy|Developmental delay & hypotonia|Developmental delay & multiple congenital anomalies	ICGC,
chr19	50912463	50912463	C	T	exonic	POLD1	synonymous	SNV	-	-	0.0025	0.0021	rs45605236	0.0024	0.00199681	0.0015	-	-	-	-	Colorectal_cancer_10|Hereditary_cancer-predisposing_syndrome|not_specified	-	integument phenotype	Altered level of single strand breaks|Colorectal adenoma/carcinoma|Mandibular hypoplasia, deafness and progeroid features	ClinVar,
chr2	67664588	67664588	C	T	intergenic	ETAA1,LOC101927701	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr1	73830080	73830080	C	A	intergenic	LINC01360,LRRIQ3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	-,-	ICGC,
chr6	29446253	29446253	C	T	intergenic	OR2H1,MAS1L	unknown	SNV	-	-	-	9.692e-05	rs767328477	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr7	38703971	38703971	C	A	intergenic	AMPH,FAM183B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1349262	-	-	-	-	mortality/aging,-	-,-	COSMIC,
chr7	113760397	113760397	A	G	intergenic	PPP1R3A,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	growth/size phenotype,-	Insulin resistance, association with|Insulin resistance|Glycemia variation, association with,-	ICGC,
chr7	24291775	24291775	A	T	intergenic	STK31,NPY	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2216778	-	LIRI-JP|1|258|0.00388	-	-	-,skeleton phenotype	-,Major depressive disorder, association with|Metabolic syndrome in coronary artery disease, association with|Schizophrenia, association with|Serum leptin levels, and waist-hip ratio, in women, association with.|Hypertension, association with|Huntington disease, age at onset, association with|Elevated plasma LDL, association with|Diabetes, type II,  in middle-aged subjects, association with|Coronary artery disease, association with|Altered response to growth factors, association with|Alcohol dependence, association with|Stress response	COSMIC,ICGC,
chr7	8677303	8677303	T	A	intronic	NXPH1	unknown	SNV	-	-	-	0.0006	rs540471902	-	0.00279553	-	-	COSN18403293	-	-	-	-	mortality/aging	Breast cancer, increased risk  	COSMIC,
chr6	162741441	162741441	C	A	intronic	PARK2	unknown	SNV	-	-	-	0.0078	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	integument phenotype	Parkinson disease, decreased risk|Parkinson disease, early-onset|Parkinson disease, early-onset.|Parkinson disease, familial|Parkinson disease, familial, association with |Parkinson disease, idiopathic|Parkinson disease, in heterozygosity, association|Parkinson disease, late-onset|Parkinson disease, sporadic, reduced risk|Parkinson disease.|Parkinsonism, juvenile, autosomal recessive|Parkinsonism, late-onset, association with|Rolandic epilepsy |Parkinson disease, autosomal recessive|Parkinson disease, association with|Parkinson disease with resting leg tremor|Attention deficit hyperactivity disorder |Autism spectrum disorder|Cervical artery dissection|Dementia with Lewy bodies|Developmental delay  |Dystonia, dopa-responsive|Leprosy, association with|Lewy bodies|Lung adenocarcinoma   |Multiple system atrophy, cerebellar subtype|Parkinson disease|Parkinson disease with dementia.|Parkinson disease with Lewy bodies	ICGC,
chr7	131678455	131678455	C	T	intergenic	LOC101928782,PLXNA4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,Autism|Parkinson disease  	ICGC,
chr17	48602395	48602395	G	T	intronic	MYCBPAP	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr3	88748908	88748908	A	G	intergenic	C3orf38,EPHA3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23156777	-	MALY-DE|1|241|0.00415	-	-	-,mortality/aging	-,Oligozoospermia|Schizophrenia    |Sertoli-cell-only syndrome	COSMIC,ICGC,
chr20	33501019	33501019	G	A	intronic	ACSS2	unknown	SNV	-	-	4.067e-06	-	rs777719878	8.242e-06	-	-	-	COSN10014791	-	RECA-EU|1|422|0.00237	-	-	-	-	COSMIC,ICGC,
chr8	63611351	63611351	A	C	intronic	NKAIN3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	Dravet syndrome   	ICGC,
chr18	40916159	40916159	C	T	intergenic	SYT4,LOC101927921	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	behavior/neurological phenotype,-	-,-	ICGC,
chr12	129199812	129199812	C	T	intergenic	TMEM132C,SLC15A4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,immune system phenotype	-,Systemic lupus erythematosus, association with	ICGC,
chr15	95038312	95038312	C	T	intergenic	MCTP2,LOC440311	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Coarctation of the aorta |Coarctation of the aorta and hypoplastic left heart syndrome ,-	ICGC,
chr10	126356185	126356185	G	A	intronic	FAM53B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	-	ICGC,
chr6	141722313	141722313	C	G	intergenic	MIR4465,NMBR	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9969023	-	RECA-EU|1|422|0.00237	-	-	-,behavior/neurological phenotype	-,-	COSMIC,ICGC,
chr9	112831908	112831908	T	C	intronic	AKAP2,PALM2-AKAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	-,-	Kallmann syndrome & bone anomalies ,-	ICGC,
chr5	8690721	8690721	A	G	intergenic	MIR4458HG,LOC101929284	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr5	4600781	4600781	T	G	intergenic	IRX1,LOC101929153	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr1	73143464	73143464	C	G	intergenic	NEGR1,LINC01360	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21524828	-	BRCA-EU|1|569|0.00176	-	-	behavior/neurological phenotype,-	Obesity, association with|Dyslexia |Body mass index, association with|Attention deficit hyperactivity disorder,-	COSMIC,ICGC,
chr9	10843958	10843958	G	A	intergenic	PTPRD-AS2,TYRP1	unknown	SNV	-	-	-	0.0004	rs758950434	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,integument phenotype	-,Albinism, oculocutaneous  |Albinism, oculocutaneous 3|Melanesian blond hair	ICGC,
chr8	85562347	85562347	G	A	intronic	RALYL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr7	117220891	117220891	T	C	intronic	CFTR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Pancreatitis, chronic, increased risk|Non-obstructive azoospermia|Obstructive azoospermia|Obstructive azoospermia.|Oligospermia|Ovulatory infertility.|Pancreatic cancer, increased risk |Pancreatic sufficient cystic fibrosis|Pancreatitis|Pancreatitis, chronic|Pancreatitis, chronic ?|Pancreatitis, chronic, association with.|Metabolic alkalosis|Meconium ileus, lethal|Lung disease|Hypochloraemic alkalosis|Inadequate weight gain|Increased expression|Increased risk of pancreatitis in patient with mild CF|Infertility |Infertility, association with|Inflammatory bowel disease|Leukemia, risk, association with|Lung cancer|Lung cancer risk, association with|Lung cancer, reduced risk|Hypertrypsinaemia, neonatal|Pancreatitis, chronic.|RA-associated diffuse bronchiectasis/rheumatoid arthritis|Recurrent pancreatitis|Recurrent pancreatitis, and disseminated bronchiectasis|Reduced bone mineral density in cystic fibrosis|Reduced expression|Respiratory symptoms of cystic fibrosis|Respiratory/pancreatic disease, association with|Rheumatoid arthritis-associated diffuse bronchiectasis|Sarcoidosis, susceptibility to|Transient reactive papulotranslucent acrokeratoderma.|Tubal infertility.|Pulmonary disease|Pseudo-Bartter's syndrome|Proteinuria in cystic fibrosis, association with|Pancreatitis, early acute.|Pancreatitis, idiopathic|Pancreatitis, idiopathic chronic  |Pancreatitis, increased risk|Pancreatitis, necrotizing.|Pancreatitis.|Phenotype modifier|Phenotype modifier, association with|Primary sclerosing cholangitis|Primary sclerosing cholangitis, protection against|Prostate cancer protection|Typhoid fever, protection against, association with|Abs of vas def, recurr pancreatitis, and diss bronchiectasis|Azoospermia with congenital absence of the vas deferens|Azoospermia with congenital absence of vas deferens|Azoospermia without CAVD and oligospermia|Azoospermia without congenital absence of the vas deferens|Azoospermia.|Bronchial asthma, association with|Bronchial asthma, association with.|Bronchiectasis|Bronchiectasis, association with|Bronchiectasis, association with.|Bronchiectasis, disseminated.|Azoospermia with CAVD and Oligospermia|Azoospermia with and without CAVD and Oligospermia|Azoospermia with and without CAVD|Allergic bronchopulmonary aspergillosis, association with.|Altered expression|Altered splicing|Altered transcription factor binding|Anorectal malformation|Asthenospermia|Asthma|Asthma / chronic pancreatitis|Asthma-like bronchopathy|Asthma.|Azoospermia |Bronchiectasis.|Bronchitis|Cystic fibrosis, atypical|Cystic fibrosis, atypical.|Cystic fibrosis, modifier of|Cystic fibrosis.|Decreased transcription|Diabetic complications in pregnancy, association with.|Disseminated bronchiectasis|Elevated sweat chloride concentration|Fertility advantage in males, association with|Foetal hyperechogenic bowel|Hyperlipidemic pancreatitis, association with|Hypertrypsinaemia, low sweat chloride|Cystic fibrosis, association with|Cystic fibrosis related liver disease|CFTR-related disorder|Chronic obstructive pulmonary disease, reduced severity, association|Chronic pancreatitis, increased risk|Chronic pulmonary disease|Con abs of vas deferens, and disseminated bronchiectasis|Congenital absence of vas deferens|Congenital absence of vas deferens and bronchiectasis|Congenital absence of vas deferens, association|Crohn's disease, protection against, association with|Cystic fibrosis|Cystic fibrosis & sickle cell-beta thalassaemia|Cystic fibrosis related disorder	ICGC,
chr10	67245450	67245450	T	C	intergenic	ANXA2P3,LOC101928913	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15697821	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr11	103396789	103396789	C	T	intergenic	DYNC2H1,MIR4693	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	mortality/aging,-	Short rib-polydactyly syndrome, type 3|Short rib-polydactyly syndrome, Majewski type|Short rib-polydactyly syndrome|Asphyxiating thoracic dystrophy,-	ICGC,
chrX	77786467	77786467	T	C	intergenic	CYSLTR1,ZCCHC5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	respiratory system phenotype,-	Asthma, association with|Atopy, association with|Decreased expression,-	ICGC,
chr12	101175002	101175002	C	T	intergenic	GAS2L3,ANO4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	182571786	182571786	T	C	intergenic	NEUROD1,SSFA2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	mortality/aging,integument phenotype	Potential protein deficiency|Diabetes, type 2, early-onset |Diabetes, permanent neonatal|Diabetes, MODY|Diabetes mellitus, type 2, association with|Diabetes mellitus, type 2|Diabetes mellitus, type 1, association with,-	ICGC,
chr2	23628133	23628133	G	-	intronic	KLHL29	unknown	deletion	-	-	-	-	-	-	-	-	-	COSN22810889	-	BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr11	81422399	81422399	A	G	intergenic	LOC101928944,LOC101928989	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	ICGC,
chr2	12006342	12006342	C	A	intergenic	MIR4262,LOC100506457	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-JP|1|585|0.00171	-	-	-,-	-,-	ICGC,
chr12	30125789	30125789	A	C	intergenic	TMTC1,IPO8	unknown	SNV	-	-	-	0.0924	rs12823127	-	0.0415335	-	0.116	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr18	22738762	22738762	A	T	intronic	ZNF521	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	skeleton phenotype	-	ICGC,
chr15	27145444	27145444	A	C	intronic	GABRA5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	skeleton phenotype	-	ICGC,
chr9	515163	515163	G	A	intronic	KANK1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	Potential protein deficiency|Fasting proinsulin concentration, association with|Cerebral palsy|Autism spectrum disorder, motor delay & intellectual disability|Autism 	ICGC,
chr5	30383390	30383390	A	T	intergenic	LOC101929681,CDH6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,renal/urinary system phenotype	-,-	ICGC,
chr8	76712091	76712091	C	T	intergenic	HNF4G,LINC01111	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	respiratory system phenotype,-	-,-	ICGC,
chr3	50647837	50647837	T	G	exonic	CISH	nonsynonymous	SNV	0.0	0.012	-	-	-	-	-	-	-	COSM3767481	-	LIRI-JP|1|258|0.00388	-	-	-	Tuberculosis, susceptibility to |Hepatitis B infection, increased risk|Bacteraemia, malaria, and tuberculosis, susceptibility to, association with	COSMIC,ICGC,
chr8	92509839	92509839	C	T	intergenic	SLC26A7,RUNX1T1	unknown	SNV	-	-	-	3.233e-05	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	digestive/alimentary phenotype,integument phenotype	-,Intellectual disability  	ICGC,
chr5	60437787	60437787	C	T	intronic	NDUFAF2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Mitochondrial encephalomyopathy with dysmorphism & hepatopathy|Mitochondrial complex I deficiency|Complex I deficiency	ICGC,
chr5	64355393	64355393	G	A	intergenic	CWC27,ADAMTS6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Schizophrenia	ICGC,
chr4	190588704	190588704	-	GGTGTGTG	intergenic	LINC01262,FRG1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,Ovarian cancer 	ICGC,
chr5	54942578	54942578	T	C	intronic	SLC38A9	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20206333	-	PACA-CA|1|268|0.00373	-	-	-	-	COSMIC,ICGC,
chr11	89581167	89581167	T	A	ncRNA_intronic	MIR5692A1,TRIM53AP	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	-,-	ICGC,
chr13	98339721	98339721	A	C	intergenic	RAP2A,IPO5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	ICGC,
chr22	29695814	29695814	G	T	exonic	EWSR1	nonsynonymous	SNV	0.004	0.982	-	-	-	-	-	-	-	COSM4103296	STAD|1|395|0.00253,STES|1|395|0.00253	STAD-US|1|289|0.00346	-	-	integument phenotype	Amyotrophic lateral sclerosis  	COSMIC,COSMIC,TCGA,ICGC,
chr6	95408924	95408924	T	G	intergenic	TSG1,MANEA-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|2|301|0.00664	-	-	-,-	-,-	ICGC,
chr10	84312192	84312192	A	C	intronic	NRG3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype	Schizophrenia, association with |Increased ventrolateral PFC activation|Hirschsprung disease  	ICGC,
chr1	30714095	30714095	C	T	intergenic	LOC101929406,MATN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,skeleton phenotype	-,-	ICGC,
chr22	17122957	17122957	C	T	ncRNA_intronic	TPTEP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr2	31655414	31655414	G	A	intergenic	XDH,SRD5A2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,reproductive system phenotype	XDH deficiency|Xanthinuria, type 1, with bilateral renal calculi.|Xanthinuria, type 1|Potential protein deficiency|Increased activity|Hypertension, association with|Hypertension |Decreased transcriptional activity|Decreased activity,Male pseudohermaphroditism|Post-traumatic stress disorder, increased risk in males|Prostate cancer|Prostate cancer, association with|Prostate cancer, increased risk|Prostate cancer, protection against, association|Reduced enzyme activity|Steroid-5 alpha-reductase deficiency|Steroid-5 alpha-reductase deficiency.|Increased enzyme activity|Hypospadias, mild |3alpha-diol-17G concentration, association with|46,XY disorder of sex development, association with|46,XY disorder of sex development.|Alcohol craving, in addicts, association with.|Androgen insensitivity syndrome, partial|Androgen insensitivity syndrome, partial.|Breast cancer, decreased risk|Hypospadias|Hypospadias, association with	ICGC,
chr5	129795058	129795058	C	T	intergenic	CHSY3,HINT1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5589064	-	LIRI-JP|1|258|0.00388	-	-	-,cellular phenotype	-,Axonal neuropathy with neuromyotonia	COSMIC,ICGC,
chr7	55803795	55803795	T	C	intergenic	FKBP9P1,SEPT14	unknown	SNV	-	-	-	0.2225	rs112421891	-	0.179113	-	0.159	-	-	LAML-KR|1|205|0.00488	-	-	-,-	-,-	ICGC,
chr12	127812352	127812352	T	A	ncRNA_intronic	LOC101927616	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23028822	-	PACA-CA|1|268|0.00373	-	-	-	-	COSMIC,ICGC,
chr8	59061238	59061238	T	-	UTR3	FAM110B	unknown	deletion	-	-	-	3.228e-05	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chrX	4852055	4852055	T	C	intergenic	LOC101928201,NLGN4X	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5776143	-	LINC-JP|1|394|0.00254	-	-	-,-	-,Potential protein deficiency|Mental retardation|Kallmann syndrome and ichthyosis|Intellectual disability, short stature & hydrocephaly|Intellectual disability, Kallmann syndrome & ichthyosis|Intellectual disability, behavioural difficulties, ichthyosis & hypogonadotrophic hypogonadism|Intellectual disability, autism spectrum disorder & short stature|Developmental delay, hypospadias & ichthyosis|Developmental delay, autism spectrum disorder, micropenis & ichthyosis|Developmental delay  |Autism, association with|Autism and mental retardation|Autism 	COSMIC,ICGC,
chr3	22334651	22334651	C	T	intergenic	ZNF385D-AS2,UBE2E2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr10	3803023	3803023	T	C	intergenic	PITRM1,KLF6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,integument phenotype	-,Decreased promoter activity|Lung adenocarcinoma, reduced risk, association with.|Nonalcoholic fatty liver disease fibrosis, association with|Prostate cancer |Prostate cancer, risk, association with|Reduced hepatic insulin resistance	ICGC,
chr3	84378083	84378083	T	C	intergenic	NONE,LINC00971	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1967646	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr6	76482308	76482308	T	C	intronic	MYO6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	integument phenotype	Cardiomyopathy, hypertrophic with deafness|Sensorineural hearing loss, nonsyndromic  |Hearing loss, non-syndromic, autosomal dominant|Hearing loss, autosomal dominant|Hearing loss|Deafness, non-syndromic |Deafness, autosomal recessive|Deafness, autosomal dominant 22|Deafness	ICGC,
chr6	163189464	163189464	A	G	intronic	PACRG	unknown	SNV	-	-	-	6.489e-05	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	Infertility, male, association with |Leprosy, association with|Parkinson disease, early-onset 	ICGC,
chr20	7601539	7601539	G	T	intergenic	MIR8062,HAO1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-FR|1|72|0.01389	-	-	-,-	-,-	ICGC,
chr3	148644024	148644024	G	A	intergenic	CPA3,GYG1	unknown	SNV	-	-	-	-	rs533930085	-	0.000199681	-	-	-	-	LICA-FR|1|252|0.00397	-	-	mortality/aging,-	-,Glycogenin 1 deficiency	ICGC,
chr2	82149485	82149485	G	A	intergenic	LOC100507201,LOC1720	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr6	46575608	46575608	C	T	intronic	CYP39A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr22	35949300	35949300	G	A	UTR3	RASD2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	-	ICGC,
chr19	53527729	53527729	T	C	intergenic	ERVV-1,ERVV-2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	91850827	91850827	A	-	intronic	HFM1	unknown	deletion	-	-	0.0002	9.945e-05	rs765798165	0.0006	-	-	-	-	-	GACA-JP|1|585|0.00171	-	-	-	Primary ovarian insufficiency	ICGC,
chr2	153213564	153213564	C	T	intronic	FMNL2	unknown	SNV	-	-	-	0.0091	rs201921887	-	0.0071885	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr10	121828594	121828594	G	A	intergenic	MIR4682,PPAPDC1A	unknown	SNV	-	-	-	3.229e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr18	67084763	67084763	G	A	intronic	DOK6	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23841096	-	ORCA-IN|1|178|0.00562	-	-	-	-	COSMIC,ICGC,
chr8	38046108	38046108	T	C	intronic	BAG4	unknown	SNV	-	-	-	0.0018	rs537960331	-	0.00119808	-	-	-	-	PBCA-US|1|186|0.00538	-	-	hematopoietic system phenotype	-	ICGC,
chr4	158481870	158481870	C	T	intergenic	GRIA2,LOC340017	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Intellectual disability  ,-	ICGC,
chr17	31829031	31829031	G	A	intronic	ASIC2	unknown	SNV	-	-	-	3.231e-05	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	taste/olfaction phenotype	Dyslexia 	ICGC,
chr4	162621655	162621655	C	T	intronic	FSTL5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Schizophrenia  |Rolandic epilepsy 	ICGC,
chr2	53146173	53146173	T	C	intergenic	NRXN1,ASB3	unknown	SNV	-	-	-	0.0504	rs17043820	-	0.0567093	-	0.080	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	Hypotonia|Hypotonia & encephalopathy|Increased white matter volume, association with|Intellectual disability  |Intellectual disability & attention deficit hyperactivity disorder|Intellectual disability & hearing loss|Intellectual disability & pervasive developmental disorder|Intellectual disability and autism|Intellectual disability, nonsyndromic |Intellectual disability, seizures, dysmorphisms & language delay|Growth retardation  |Epilepsy, myoclonic seizures & speech delay|Developmental disorder|Developmental disorder & attention deficit hyperactivity disorder|Developmental disorder, seizures & attention deficit hyperactivity disorder|Developmental/intellectual disability, hypotonia & dysmorphic features|Disorder of muscle, ligament & fascia|Encephalopathy  |Epilepsy  |Epilepsy with cognitive impairment / autism spectrum disorder|Epilepsy with focal seizures|Epilepsy, generalised |Intellectual disability, seizures, language delay & hypotonia|Language delay|Learning difficulties|Respiratory distress & sepsis|Respiratory distress syndrome|Schizophrenia |Schizophrenia, childhood onset |Schizophrenia, disorganised type|Seizures, generalized tonic-clonic & attention deficit hyperactivity disorder|Sensory integration disorder & attention deficit hyperactivity disorder|Speech delay & social communication difficulties|Tourette syndrome|Pervasive developmental disorder / hypotonia|Pervasive developmental disorder|Pervasive developmental delay / mental retardation, lack of coordination & hearing loss|Learning difficulties, ADHD & autism|Mental retardation|Mental retardation, autism, vertebral malformations|Mental retardation, Pitt-Hopkins-like|Microcephaly & mental retardation|Multiple congenital anomalies  |Multiple disabilities|Myoclonic epilepsy   |Neurodevelopmental disorder  |Vertebral anomalies|Developmental delay, speech delay & social communication difficulties|Attention deficit hyperactivity disorder |Autism spectrum disorder, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability & language delay|Autism spectrum disorder, intellectual disability, dysmorphisms, developmental delay & language delay|Autism spectrum disorder, intellectual disability, seizures & developmental delay|Autism spectrum disorder, intellectual disability, seizures, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability, seizures, dysmorphisms & language delay|Autism spectrum disorder, seizures, developmental delay & language delay|Autism, intellectual disability & attention deficit hyperactivity disorder|Autistic disorder|Autism spectrum disorder with developmental & speech delay|Autism spectrum disorder & seizures|Autism spectrum disorder & language delay|Autism |Autism & learning difficulties|Autism & mental retardation|Autism & seizures|Autism spectrum disorder|Autism spectrum disorder & attention deficit hyperactivity disorder|Autism spectrum disorder & developmental delay|Autism spectrum disorder & dysmorphic features|Autism spectrum disorder & intellectual disability|Behavioural problems|Congenital heart defect  |Craniofacial dysmorphism|Developmental delay & speech/motor delay|Developmental delay with early-onset epilepsy|Developmental delay, dysmorphic features & short stature|Developmental delay, epilepsy, autism|Developmental delay, language delay & hypotonia|Developmental delay, learning difficulties, ADHD|Developmental delay, microcephaly & behavioural problems|Developmental delay, pulmonic stenosis & autism spectrum disorder|Developmental delay, short stature and diaphragmatic hernia|Developmental delay, speech delay & microcephaly|Developmental delay & seizures|Developmental delay & seizure disorder|Cystic hygroma, hydrops & micrognathia|Cystic hygroma, shortened upper limbs & fetal demise|Developmental & speech delay|Developmental delay|Developmental delay / autism|Developmental delay & autism|Developmental delay & dysmorphic features|Developmental delay & epilepsy|Developmental delay & hypotonia|Developmental delay & multiple congenital anomalies,-	ICGC,
chr1	81909482	81909482	A	G	intergenic	NONE,LPHN2	unknown	SNV	-	-	-	0.0242	rs72940944	-	0.0409345	-	0.043	-	-	LAML-KR|1|205|0.00488	-	-	-,mortality/aging	-,Schizophrenia	ICGC,
chr12	25044327	25044327	-	CTGA	intronic	BCAT1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	-	Schizophrenia  	ICGC,
chr4	19585880	19585880	G	A	intergenic	LCORL,SLIT2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Schizophrenia  	ICGC,
chr14	95839133	95839133	G	A	intergenic	LOC101929080,LINC00341	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr3	166742417	166742417	C	T	intergenic	BCHE,ZBBX	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1928760	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging,-	Serum cholinesterase deficiency|Potential protein deficiency|Obesity and triglyceride levels, association with|Hypocholinesterasaemia|Fronto-temporal dementia, association with|Cholinesterasaemia|Butyrylcholinesterase variant|Butyrylcholinesterase deficiency|Addiction to crack cocaine, association with|Acholinesterasaemia,-	COSMIC,ICGC,
chr8	39090291	39090291	C	A	intronic	ADAM32	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-	-	ICGC,
chr20	46678457	46678457	C	T	intergenic	LOC101927457,LINC00494	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr14	93808724	93808724	A	G	intronic	UNC79	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging	-	ICGC,
chr13	22690852	22690852	C	T	intergenic	LINC00424,LINC00540	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr7	51905900	51905900	C	T	intergenic	COBL,POM121L12	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	nervous system phenotype,-	-,-	ICGC,
chr2	190275191	190275191	C	A	intergenic	COL5A2,WDR75	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	integument phenotype,-	Spontaneous cervical artery dissections|Ehlers-Danlos syndrome II|Ehlers-Danlos syndrome I|Ehlers-Danlos syndrome|Cervical artery dissection, increased risk ,-	ICGC,
chr3	31728028	31728028	G	C	intronic	OSBPL10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr12	60143753	60143753	C	T	intronic	SLC16A7	unknown	SNV	-	-	-	6.459e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Autism spectrum disorder	ICGC,
chr11	122044074	122044074	A	G	ncRNA_intronic	MIR100HG	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	-	ICGC,
chr1	97122846	97122846	T	A	intergenic	LOC101928241,PTBP2	unknown	SNV	-	-	-	0.0001	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,mortality/aging	-,-	ICGC,
chr1	236863920	236863920	T	C	intronic	ACTN2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-	Cardiomyopathy, dilated|Cardiomyopathy, hypertrophic	ICGC,
chr11	62289319	62289319	T	C	exonic	AHNAK	synonymous	SNV	-	-	0	0	-	-	-	-	-	COSM6596866	-	-	-	-	hematopoietic system phenotype	Potential protein deficiency	COSMIC,COSMIC,
chr7	114248049	114248049	T	G	intronic	FOXP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging	Verbal dyspraxia, dysmorphism and developmental delay|Verbal apraxia & dysarthria|Verbal apraxia|Speech impairment, developmental delay & congenital anomalies|Speech disorder, global development & psychomotor delay|Mental retardation, dysmorphia and language delay|Left opercular polymicrogyria|Dyspraxia and language delay|Developmental verbal dyspraxia|Childhood apraxia of speech|Autism spectrum disorder 	ICGC,
chr13	98742484	98742491	CGTGTGTG	-	intergenic	IPO5,FARP1	unknown	deletion	-	-	-	0	-	-	-	-	-	-	-	LMS-FR|3|67|0.04478	-	-	-,-	-,-	ICGC,
chr7	34103669	34103669	G	T	intronic	BMPER	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	mortality/aging	Diaphanospondylodysostosis	ICGC,
chr3	159292793	159292793	C	T	intronic	IQCJ-SCHIP1,SCHIP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,-	ICGC,
chr10	396045	396045	T	C	intronic	DIP2C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-	Autism	ICGC,
chr16	90063103	90063103	G	T	ncRNA_intronic	AFG3L1P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|2|402|0.00498	-	-	-	-	ICGC,
chr16	62200261	62200261	C	T	intergenic	CDH8,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype,-	Learning disability  |Autism & learning disability ,-	ICGC,
chr6	126896716	126896716	G	A	intergenic	NONE,RSPO3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,-	ICGC,
chr2	22121512	22121512	A	C	intergenic	LOC645949,LOC102723362	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chrX	63154022	63154022	C	T	intergenic	MIR1468,AMER1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7529753	-	PACA-AU|1|391|0.00256	-	-	-,mortality/aging	-,-	COSMIC,ICGC,
chr10	65418274	65418274	C	A	intergenic	REEP3,ANXA2P3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	OV-AU|1|93|0.01075	-	-	-,-	-,-	ICGC,
chr14	103926244	103926244	C	T	intronic	MARK3	unknown	SNV	-	-	-	0.0579	rs74831855	-	0.0587061	-	0.058	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	-	ICGC,
chr18	76787990	76787990	-	A	intergenic	SALL3,ATP9B	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	mortality/aging,-	-,-	ICGC,
chr2	211572975	211572975	C	A	intergenic	CPS1,ERBB4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,integument phenotype	VACTERL |Neonatal pulmonary hypertension, association with|Necrotizing enterocolitis, in preterm infants, association with|Hyperammonaemia, association with|Carbamoyl phosphate synthetase I deficiency|Altered Nitric oxide production and vascular smooth muscle reactivity|Altered glycine metabolism,Schizophrenia |Oligohydramnios|Intellectual disability, hyperactivity & speech developmental delay|Increased promoter activity|Hepatocellular carcinoma, increased risk, association with|Epileptic encephalopathy, early infantile 3|Breast and colorectal cancer, association with|Bipolar disorder, association with |Bipolar disorder |Autism spectrum disorder  |Amyotrophic lateral sclerosis type 19	ICGC,
chr16	8350231	8350231	G	A	intergenic	RBFOX1,TMEM114	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Muscular and feet abnormalities|Mental retardation|Epilepsy, rolandic  |Epilepsy|Developmental delay, facial dysmorphism  |Developmental delay and transposition of the great arteries|Developmental delay and diplegia|Developmental delay and craniosynostosis|Developmental delay  |Cardiac defects|Cardiac abnormalities, micrognathia and scoliosis|Autism spectrum disorder|Autism|Attention deficit hyperactivity disorder ,Developmental delay|Cataract, congenital	ICGC,
chr12	44761873	44761873	C	T	intronic	TMEM117	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr1	49058515	49058515	T	A	intronic	AGBL4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-	Autism spectrum disorder, association with	ICGC,
chr6	6259843	6259843	A	T	intronic	F13A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	mortality/aging	Recurrent miscarriage, association with |Recurrent pregnancy loss, association with|Reduced factor XIII activity|Resistance to fibrinolysis, association with|Venous thromboembolism, lower risk|Venous thromboembolism, protection against, in Caucasians|Myocardial infarction, protection, association|Ischemic stroke, increased risk|Increased FXIII specific activity, association with|Increased factor XIII specific activity|Factor XIII-A type II deficiency|Factor XIII deficiency|Coronary artery disease, non-diabetic, reduced risk, association|Atherothrombotic ischemic stroke, severity in women|Accelerated fibrosis progression, in patients with chronic hepatitis B and C, association with	ICGC,
chr14	101168665	101168665	C	T	intergenic	LINC00523,DLK1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,-	ICGC,
chr1	156339164	156339164	G	T	exonic	RHBG	nonsynonymous	SNV	0.184	0.074	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	normal phenotype	-	ICGC,
chr1	53037496	53037496	C	T	intergenic	ZCCHC11,GPX7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr14	20224895	20224895	C	T	intergenic	OR4Q3,OR4M1	unknown	SNV	-	-	-	0.0005	rs142512881	-	0.00159744	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Altered receptor function,-	ICGC,
chr2	102014155	102014155	G	A	exonic	RFX8	nonsynonymous	SNV	0.001	1.0	-	-	-	-	-	-	-	COSM5040325	-	-	-	-	-	Autism	COSMIC,COSMIC,
chr11	51530544	51530544	C	T	intergenic	OR4C46,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,-	-,-	ICGC,
chr7	140706031	140706031	G	A	UTR3	MRPS33	unknown	SNV	-	-	-	0.1157	rs9274	-	0.13139	-	0.094	-	-	ESAD-UK|1|301|0.00332,LUSC-KR|1|170|0.00588	-	-	-	-	ICGC,
chr20	14876297	14876297	G	A	ncRNA_intronic	MACROD2-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chrX	130648465	130648465	C	G	intergenic	IGSF1,OR13H1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	normal phenotype,-	Central hypothyroidism|Central hypothyroidism & testicular enlargement,Autism spectrum disorder	ICGC,
chr5	168190630	168190630	G	A	intronic	SLIT3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging	Schizophrenia  |Major depressive disorder |Autism spectrum disorder	ICGC,
chr7	118620347	118620347	T	C	intergenic	ANKRD7,KCND2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,integument phenotype	-,Epilepsy, temporal lobe	ICGC,
chr11	22062153	22062153	A	G	intergenic	NELL1,ANO5	unknown	SNV	-	-	-	0.7183	rs11822269	-	0.729832	-	0.841	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	Crohn disease, association with,Persistent asymptomatic hyperCKemia|Myopathy of posterior calf muscles, late-onset|Myopathy / muscular dystrophy|Myopathy  |Muscular dystrophy, limb girdle 2L.|Muscular dystrophy, limb girdle 2L|Muscular dystrophy  |Miyoshi-like distal myopathy|Miyoshi myopathy, non-dysferlin|Miyoshi distal myopathy.|Miyoshi distal myopathy|Gnathodiaphyseal dysplasia|Autism 	ICGC,
chr2	181568959	181568959	C	T	ncRNA_intronic	SCHLAP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr14	99667224	99667224	A	T	intronic	BCL11B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	integument phenotype	-	ICGC,
chr10	129905334	129905334	G	A	exonic	MKI67	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM3435663	SKCM|1|368|0.00272	SKCM-US|1|335|0.00299	-	-	-	Schizophrenia  	COSMIC,TCGA,ICGC,
chr1	207087160	207087160	G	A	exonic	FAIM3	nonsynonymous	SNV	1.0	0.019	7.311e-05	-	rs138175929	9.886e-05	-	7.7e-05	-	COSM903027	UCEC|1|248|0.00403	UCEC-US|1|250|0.00400	-	-	mortality/aging	-	COSMIC,COSMIC,TCGA,ICGC,
chr10	34765766	34765766	G	C	intronic	PARD3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN28108429	-	PRAD-CA|1|308|0.00325	-	-	mortality/aging	Neural tube defects	COSMIC,COSMIC,ICGC,
chrX	86614374	86614374	A	C	intergenic	DACH2,KLHL4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	normal phenotype,-	-,-	ICGC,
chr20	7603133	7603133	C	T	intergenic	MIR8062,HAO1	unknown	SNV	-	-	-	0.0657	rs6055194	-	0.095647	-	0.051	-	-	LAML-KR|1|205|0.00488	-	-	-,-	-,-	ICGC,
chr5	139900529	139900529	-	A	intronic	ANKHD1,ANKHD1-EIF4EBP3	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr4	36305553	36305553	A	G	intronic	DTHD1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16326167	-	LIRI-JP|1|258|0.00388	-	-	-	Leber congenital amaurosis with myopathy	COSMIC,ICGC,
chr2	122142456	122142456	C	T	intronic	CLASP1	unknown	SNV	-	-	-	0.0023	rs528777892	-	0.000199681	-	-	COSN15761180	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr8	84876289	84876289	-	T	intergenic	LINC01419,RALYL	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-,-	-,-	ICGC,
chr12	103733236	103733236	G	A	intronic	C12orf42	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr7	120787891	120787891	G	T	intronic	CPED1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17128679	-	-	-	-	-	-	COSMIC,
chr5	166458387	166458387	G	C	intergenic	CTB-7E3.1,TENM2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16509942	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	COSMIC,ICGC,
chr13	56757917	56757917	T	G	intergenic	MIR5007,PRR20A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chrX	131531197	131531197	A	G	ncRNA_intronic	RAP2C-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	-	ICGC,
chr3	34451862	34451862	T	G	intergenic	PDCD6IP,LOC101928135	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	Hepatocellular carcinoma, increased risk, association with,-	ICGC,
chr8	120571259	120571259	C	T	intronic	ENPP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	-	ICGC,
chr3	174185419	174185419	T	G	intergenic	NLGN1,NAALADL2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	mortality/aging,-	Microcephaly, seizure disorder & intellectual disability |Autism spectrum disorder  |Autism|Anorectal malformation,-	ICGC,
chr2	195201801	195201801	C	A	intergenic	PCGEM1,LOC101927406	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr12	7171602	7171602	C	T	exonic	C1S	synonymous	SNV	-	-	4.061e-06	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Complement C1S abnormality|Complement C1S deficiency|Haemolytic uraemic syndrome, atypical	ICGC,
chr2	121115572	121115572	G	A	intergenic	INHBB,LINC01101	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Spermatogenic failure ,-	ICGC,
chr10	91795913	91795913	C	T	intergenic	LINC01375,LOC101926942	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr8	121146343	121146343	C	G	intronic	COL14A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-FR|1|72|0.01389	-	-	integument phenotype	Keratoderma, palmoplantar, punctate	ICGC,
chr5	122581412	122581412	C	T	intergenic	PRDM6,CEP120	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	44287517	44287517	C	T	intergenic	NNT,FGF10	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN14879605	-	LICA-FR|1|252|0.00397	-	-	cellular phenotype,integument phenotype	Glucocorticoid deficiency ,Tetralogy of Fallot|Orofacial clefting |Lacrimo-auriculo-dento-digital syndrome|Extreme myopia, increased risk|Chronic obstructive pulmonary disease|Aplasia of lacrimal and salivary glands	COSMIC,ICGC,
chr8	100791202	100791202	A	G	exonic	VPS13B	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM3884064	-	STAD-US|1|289|0.00346	-	-	-	Neutropaenia with retinopathy|Intellectual disability  |Cohen syndrome, cutis verticis gyrata & sensorineural deafness|Cohen syndrome|Autism spectrum disorder|Autism	COSMIC,COSMIC,ICGC,
chr5	148844599	148844599	G	C	intergenic	MIR143HG,CSNK1A1	unknown	SNV	-	-	-	0.2409	rs35255187	-	-	-	0.159	-	-	LAML-KR|1|205|0.00488	-	-	-,-	-,-	ICGC,
chr7	146881327	146881327	A	G	intronic	CNTNAP2	unknown	SNV	-	-	-	0.5251	rs12056056	-	0.572684	-	0.630	-	-	COCA-CN|1|321|0.00312,ESAD-UK|1|301|0.00332	-	-	integument phenotype	Gilles de la Tourette syndrome|Intellectual disability  |Learning disability & speech problems|Mental retardation |Mental retardation, Pitt-Hopkins-like|Multiple congenital anomalies  |Seizures, neonatal |Speech delay  |Stuttering |Epileptic encephalopathy  |Epilepsy and schizophrenia|Autism|Autism spectrum disorder |Autism spectrum disorder, modifier of|Childhood apraxia of speech|Cortical dysplasia-focal epilepsy syndrome|Developmental and/or speech and/or behavioural problems|Developmental delay  |Developmental delay & dysmorphic features|Dyslexia 	ICGC,
chr21	42459501	42459511	CGATCAAAGTG	-	intergenic	DSCAM,LINC00323	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|2|67|0.02985	-	-	mortality/aging,-	Bipolar disorder, association with ,-	ICGC,
chr2	76565606	76565606	A	T	intergenic	GCFC2,LRRTM4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16540513	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	COSMIC,ICGC,
chr5	11433333	11433333	G	A	intronic	CTNND2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	behavior/neurological phenotype	Schizophrenia  |Lennox-Gastaut syndrome |Autism spectrum disorder|Anorectal malformation|Altered localisation	ICGC,
chr4	121486203	121486203	T	C	intergenic	MAD2L1,PRDM5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	mortality/aging,skeleton phenotype	Lung cancer, association with|Reduced expression,Brittle cornea syndrome	ICGC,
chr1	170981869	170981869	C	T	intronic	MROH9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr18	64472720	64472720	C	T	intergenic	CDH19,MIR5011	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Tetralogy of Fallot,-	ICGC,
chr10	15308083	15308083	G	A	intronic	FAM171A1	unknown	SNV	-	-	-	3.232e-05	-	-	-	-	-	COSN21533727	-	BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr14	19463787	19463787	C	T	intergenic	LOC642426,POTEG	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr4	191042105	191042105	T	C	intergenic	DUX4L2,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr3	175302957	175302957	A	C	intronic	NAALADL2	unknown	SNV	-	-	-	0.2574	rs75807851	-	0.232228	-	-	-	-	LAML-KR|1|205|0.00488	-	-	-	-	ICGC,
chr10	15005857	15005857	G	A	intronic	MEIG1	unknown	SNV	-	-	-	3.242e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr14	58385358	58385358	G	A	intergenic	SLC35F4,C14orf37	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chrX	152409189	152409189	G	A	intergenic	PNMA6A,MAGEA1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	ICGC,
chr8	62789236	62789236	A	T	intergenic	MIR4470,NKAIN3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Dravet syndrome   	ICGC,
chr5	24154902	24154902	C	T	intergenic	PRDM9,CDH10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	reproductive system phenotype,-	Altered meiotic recombination hotspot usage|Azoospermia by meiotic arrest, association with |Azoospermia, non-obstructive ,-	ICGC,
chr13	25697720	25697720	C	T	intergenic	PABPC3,AMER2	unknown	SNV	-	-	-	0.1677	rs56066004	-	0.119409	-	0.152	COSN27160670	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr8	113085392	113085392	A	C	intergenic	NONE,CSMD3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26045593	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,Schizophrenia  |Colorectal cancer 	COSMIC,ICGC,
chr14	31450706	31450706	A	G	intronic	STRN3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25061403	-	MALY-DE|1|241|0.00415	-	-	-	-	COSMIC,ICGC,
chr11	100329888	100329888	C	T	intergenic	CNTN5,ARHGAP42	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	behavior/neurological phenotype,-	-,-	ICGC,
chr17	39952021	39952021	A	C	intergenic	JUP,LEPREL4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7166759	-	PACA-AU|1|391|0.00256	-	-	integument phenotype,-	Naxos disease|Epidermolysis bullosa, lethal congenital|Cutaneous disease|Cardiomyopathy, dilated|Cardiomyopathy, arrhythmogenic right ventricular|Cardiomyopathy with alopecia & palmoplantar keratoderma|Arrhythmogenic right ventricular dysplasia/cardiomyopathy ,-	COSMIC,ICGC,
chr11	92006932	92006932	C	T	intergenic	DISC1FP1,FAT3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,vision/eye phenotype	-,Autism spectrum disorder	ICGC,
chr4	76507055	76507055	T	A	exonic	CDKL2	nonsynonymous	SNV	0.0	0.984	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	no phenotypic analysis	-	ICGC,
chrX	120330977	120330977	G	A	intergenic	GLUD2,GRIA3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,integument phenotype	Parkinson disease, earlier onset, association with,Mental retardation, X-linked|Intellectual disability, X-linked with facial dysmorphism|Intellectual disability, X-linked|Autism spectrum disorder	ICGC,
chr10	107565406	107565406	G	T	ncRNA_intronic	LOC101927549	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr4	65887339	65887339	C	T	intergenic	LOC401134,EPHA5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19517249	-	-	-	-	-,nervous system phenotype	-,Mental retardation|Dravet syndrome  |Attention deficit hyperactivity disorder & learning disabilities|Alzheimer disease  	COSMIC,
chr5	25929858	25929858	A	T	intergenic	LOC340107,CDH9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	141486107	141486107	C	T	intronic	LRP1B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Schizophrenia   	ICGC,
chr16	34977189	34977189	G	A	intergenic	LOC100130700,FLJ26245	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chrX	83087451	83087451	C	A	intergenic	POU3F4,CYLC1	unknown	SNV	-	-	-	0	rs181404039	-	0.000529801	-	-	-	-	LAML-KR|1|205|0.00488	-	-	integument phenotype,-	X-linked mixed deafness|X-linked deafness|Sensorineural hearing loss  |Mixed hearing loss |Hearing loss, X-linked nonsyndromic|Hearing loss & mental retardation,-	ICGC,
chr9	125175801	125175801	C	T	intergenic	PTGS1,OR1J1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Inhibition of prostaglandin H2 formation, association |Myocardial infarction in CAD, reduced risk, association|Reduced activity,Autism spectrum disorder	ICGC,
chrX	109886030	109886030	G	A	intergenic	TDGF1P3,CHRDL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,Megalocornea, X-linked	ICGC,
chr3	189206705	189206705	C	T	intergenic	TPRG1,TP63	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5530957	-	LIRI-JP|1|258|0.00388	-	-	-,integument phenotype	-,EECUT plus syndrome|Limb-mammary syndrome|Lung adenocarcinoma, susceptibility to, association with|Rapp-Hodgkin syndrome|Rapp-Hodgkin/AEC/ADULT syndrome|Split hand-split foot malformation with amelogenesis imperfecta|Split-hand/split-foot and anorectal malformations.|Split-hand/split-foot malformation|EEC syndrome without clefting|EEC syndrome with linear and whorled naevoid hypermelanosis|ADULT syndrome|ADULT syndrome with cleft palate|AEC / Rapp-Hodgkin syndrome|AEC syndrome|Cleft lip, non-syndromic|Cleft palate, hypohidrosis and oligodontia|Ectrodactyly, ectodermal dysplasia, & clefting/Ectrodactyly-ectoderm. dyspl./Ectoderm. dyspl./Split hand-foot malf. type 4.|EEC syndrome	COSMIC,ICGC,
chr1	15782101	15782101	C	T	intergenic	CTRC,CELA2A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6004212	-	LIRI-JP|1|258|0.00388	-	-	-,-	Reduced activity|Pancreatitis, tropical, association with|Pancreatitis, tropical calcific|Pancreatitis, tropical|Pancreatitis, chronic.|Pancreatitis, chronic, association with|Pancreatitis, chronic |Pancreatitis, alcohol-related,-	COSMIC,ICGC,
chr11	83584280	83584280	-	A	intronic	DLG2	unknown	insertion	-	-	-	0.0001	rs529956489	-	0.000798722	-	-	-	-	BRCA-EU|1|569|0.00176,PACA-AU|1|391|0.00256,MALY-DE|1|241|0.00415	-	-	integument phenotype	Schizophrenia and epilepsy|Myopathy  |Intellectual disability, autism and epilepsy|Hypochondriasis|Dysmorphic features & speech delay|Developmental delay and dysmorphic features|Developmental delay  	ICGC,
chr1	158911246	158911246	C	A	intronic	PYHIN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CN|1|65|0.01538	-	-	-	-	ICGC,
chr6	39260202	39260202	C	T	intergenic	KCNK5,KCNK17	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,-	-,-	ICGC,
chr7	110555852	110555853	AA	-	intronic	IMMP2L	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	reproductive system phenotype	Gilles de la Tourette syndrome|Autism	ICGC,
chr10	72915305	72915305	G	T	intergenic	PCBD1,UNC5B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16288431	-	PRAD-CA|1|308|0.00325	-	-	integument phenotype,mortality/aging	Hyperphenylalaninaemia,-	COSMIC,ICGC,
chr6	156160195	156160195	C	T	intergenic	NOX3,ARID1B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,-	-,Schizophrenia|Nicolaides-Baraitser syndrome|Intellectual disability, plantar fat pads & facial dysmorphism|Intellectual disability, corpus callosum abnormalities, speech impairment & autism|Intellectual disability & speech impairment|Intellectual disability & agenesis of corpus callossum|Intellectual disability  |Developmental delay, dysmorphic features, dysgenesis of the corpus callosum, limb anomalies & genital hypoplasia|Coffin-Siris syndrome|Autism?|Autism spectrum disorder|Autism	ICGC,
chr13	67971141	67971141	T	C	intergenic	PCDH9,LINC00550	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr8	4407852	4407853	CA	-	intronic	CSMD1	unknown	deletion	-	-	-	0.2749	rs35196172	-	-	-	-	-	-	PEME-CA|2|112|0.01786,PBCA-DE|1|499|0.00200	-	-	-	Schizophrenia, association with |Hyperinsulinism|Autism|Attention deficit hyperactivity disorder 	ICGC,
chr5	132232760	132232760	G	T	exonic	AFF4	nonsynonymous	SNV	0.006	0.955	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	mortality/aging	-	ICGC,
chr10	89396545	89396545	C	T	intergenic	MINPP1,PAPSS2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	normal phenotype,mortality/aging	Thyroid adenoma, follicular|Thyroid carcinoma, follicular, lower risk, association,Spondyloepiphyseal dysplasia|Spondyloepimetaphyseal dysplasia, Pakistani type|Reduced PAPSS activity|Premature pubarche|Brachyolmia	ICGC,
chr1	73522408	73522408	T	C	intergenic	NEGR1,LINC01360	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	behavior/neurological phenotype,-	Obesity, association with|Dyslexia |Body mass index, association with|Attention deficit hyperactivity disorder,-	ICGC,
chr19	6645973	6645973	A	T	intergenic	CD70,TNFSF14	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1773077	-	LIRI-JP|1|258|0.00388	-	-	-,hematopoietic system phenotype	-,Altered p53 binding|Altered receptor binding|Female vascular dementia, association with	COSMIC,ICGC,
chr21	23912183	23912183	G	T	intergenic	LINC00308,D21S2088E	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-UK|1|140|0.00714	-	-	-,-	-,-	ICGC,
chr7	22790858	22790858	-	T	intergenic	IL6,TOMM7	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,-	Febrile seizures, association with.|Graft-versus-host disease, association with|Impaired cognitive development, association with|Increased serum lipoprotein(a) concentrations, association|Irritable bowel syndrome, association with|Ischaemic stroke, in Han Chinese, association with|Juvenile arthritis, lower risk, association|Leprosy, association with|Longevity, association with|Lower bone mineral density, association with|Oral carcinoma, tobacco-related, protection against|Tuberculosis resistance, association with.|Systemic lupus erythematosus, association with|Sudden infant death syndrome, association with|Protection from late diabetic complications|Preterm birth, association with.|Postmenopausal osteoporosis, association with|Pemphigus, association with.|Paranoid schizophrenia, increased risk |Fat free mass in men, association with|Coronary heart disease, reduced risk, association with.|Alzheimer disease, reduced risk, association with.|Alzheimer disease, protection, association with|Alzheimer disease, increased risk when found with APOE e4|Alzheimer disease|Altered transcriptional activity|Altered gene expression|Acute coronary syndrome, protection against, association with|Acute coronary syndrome, association with.|Arterial stiffness, association with|Autoimmune thyroid diseases, association with|Bladder cancer, association with|Coeliac disease susceptibility in females, association with|Cervical cancer risk|Cerebral palsy, association with|Cerebral palsy, associated with|Cerebral palsy |Cardiovascular risk factors, association with|Cardiovascular disease risk, association with|Bone mineral density, association with,-	ICGC,
chr3	131953145	131953145	-	CTGTGTG	intergenic	CPNE4,ACPP	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,integument phenotype	-,Potential protein deficiency	ICGC,
chr20	50055544	50055544	GG	AA	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chrX	146271277	146271277	G	A	intergenic	CXorf51A,MIR506	unknown	SNV	-	-	5.832e-06	-	rs782303096	1.446e-05	-	-	-	COSN26984556	-	-	-	-	-,-	-,-	COSMIC,
chr3	96705908	96705908	C	T	intronic	EPHA6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	Alzheimer disease  	ICGC,
chr2	175684095	175684095	G	A	intronic	CHN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	Ocular dysmotility|Duane retraction syndrome 2|Duane retraction syndrome  	ICGC,
chr13	64923858	64923858	A	T	intergenic	OR7E156P,PCDH9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	ICGC,
chr13	57946210	57946210	T	C	intergenic	PRR20A,PCDH17	unknown	SNV	-	-	-	3.243e-05	-	-	-	-	-	COSN5725319	-	LINC-JP|1|394|0.00254	-	-	-,-	-,-	COSMIC,ICGC,
chr16	29819939	29819939	G	A	exonic	MAZ	nonsynonymous	SNV	0.523	0.159	-	-	-	-	-	-	-	COSM3711997	-	ORCA-IN|1|178|0.00562	-	-	-	-	COSMIC,COSMIC,ICGC,
chr11	80800003	80800003	A	G	intergenic	LOC101928944,LOC101928989	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr19	28597535	28597535	G	A	intergenic	LOC101927151,LOC100420587	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr17	38569116	38569116	C	T	exonic	TOP2A	nonsynonymous	SNV	0.003	0.161	-	-	-	-	-	-	-	COSM978885	UCEC|1|248|0.00403	UCEC-US|1|250|0.00400	-	-	-	-	COSMIC,TCGA,ICGC,
chr1	241323204	241323204	T	C	intronic	RGS7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	mortality/aging	Intellectual disability  |Autism spectrum disorder  	ICGC,
chr2	197680470	197680470	C	A	intergenic	C2orf66,PGAP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,mortality/aging	-,Spastic paraplegia 67	ICGC,
chr2	239344440	239344440	G	T	exonic	ASB1	nonsynonymous	SNV	0.748	0.997	-	-	-	-	-	-	-	COSM6259976	-	LICA-CN|1|402|0.00249	-	-	integument phenotype	Autism	COSMIC,ICGC,
chr2	23977766	23977766	T	C	intronic	ATAD2B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1236191	-	-	-	-	reproductive system phenotype	-	COSMIC,
chr16	61378489	61378489	A	C	intergenic	LOC729159,CDH8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,integument phenotype	-,Learning disability  |Autism & learning disability 	ICGC,
chr12	34480642	34480642	C	T	intergenic	ALG10,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN18828092	-	MELA-AU|2|183|0.01093	-	-	-,-	-,-	COSMIC,ICGC,
chr1	195105271	195105271	G	T	intergenic	CDC73,KCNT2	unknown	SNV	-	-	-	0.1873	rs12041458	-	0.173722	-	0.123	-	-	LAML-KR|1|205|0.00488	-	-	integument phenotype,-	Potential protein deficiency|Parathyroid carcinoma/adenoma|Parathyroid carcinoma.|Parathyroid carcinoma|Parathyroid cancer|Parathyroid adenoma.|Parathyroid adenoma |Hyperparathyroidism, primary.|Hyperparathyroidism, primary|Hyperparathyroidism, isolated|Hyperparathyroidism-jaw tumour syndrome.|Hyperparathyroidism-jaw tumour syndrome,-	ICGC,
chr16	49181425	49181425	A	G	intergenic	N4BP1,CBLN1	unknown	SNV	-	-	-	0.0008	rs561985802	-	0.000199681	-	-	-	-	PBCA-US|1|186|0.00538	-	-	no phenotypic analysis,behavior/neurological phenotype	-,-	ICGC,
chr12	71622909	71622909	C	T	intergenic	TSPAN8,LGR5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,-	ICGC,
chr16	75536334	75536334	A	G	intergenic	CHST6,CHST5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15159893	-	ESAD-UK|1|301|0.00332	-	-	-,vision/eye phenotype	Macular corneal dystrophy.|Macular corneal dystrophy, type 2|Macular corneal dystrophy, type 1|Macular corneal dystrophy ,-	COSMIC,ICGC,
chr6	120325585	120325585	C	T	intergenic	LOC285762,TBC1D32	unknown	SNV	-	-	-	0.0001	rs544240155	-	0.000998403	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,Oro-facio-digital syndrome type IX	ICGC,
chr14	70574905	70574905	C	T	intronic	SLC8A3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	-	ICGC,
chr16	34519409	34519409	C	A	intergenic	UBE2MP1,LOC283914	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21250577	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr3	6263106	6263106	T	C	intergenic	MIR4790,LOC101927347	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr3	170854987	170854987	A	G	intronic	TNIK	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25416572	-	MALY-DE|1|241|0.00415	-	-	behavior/neurological phenotype	-	COSMIC,ICGC,
chr2	5833884	5833884	C	T	exonic	SOX11	nonsynonymous	SNV	0.001	0.838	5.397e-06	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312,MELA-AU|1|183|0.00546	-	-	integument phenotype	-	ICGC,
chr16	72881566	72881566	T	G	intronic	ZFHX3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	NKTL-SG|1|50|0.02000	-	-	mortality/aging	Prostate cancer risk, association with	ICGC,
chr7	107977948	107977948	C	T	intronic	NRCAM	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	mortality/aging	-	ICGC,
chr7	11975947	11975955	TTTTGTTTG	-	intergenic	THSD7A,TMEM106B	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	Autism ,Frontotemporal dementia, in GRN mutation carriers, association with	ICGC,
chr7	65729763	65729763	A	C	intronic	TPST1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	reproductive system phenotype	-	ICGC,
chr18	68604600	68604600	A	T	intergenic	GTSCR1,LOC100505776	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	-,-	ICGC,
chr7	83989960	83989960	A	C	intergenic	SEMA3A,LOC101927378	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8042571	-	PACA-AU|1|391|0.00256	-	-	mortality/aging,-	Unexplained cardiac arrest, association with|Short stature & multiple congenital anomalies|Kallmann syndrome|Hirschsprung disease   |Crypt frequency in the iris, association with,-	COSMIC,ICGC,
chr1	112418990	112418990	-	A	intronic	KCND3	unknown	insertion	-	-	-	0.4209	rs34040283	-	0.440895	-	0.449	-	-	ESAD-UK|1|301|0.00332	-	-	cardiovascular system phenotype	Sudden unexplained death syndrome|Sudden infant death syndrome|Spinocerebellar ataxia 22|Spinocerebellar ataxia 19|Cardiac arrhythmia|Brugada syndrome.|Brugada syndrome    |Atrial fibrillation, lone, early-onset	ICGC,
chr4	55426246	55426246	A	G	intergenic	PDGFRA,KIT	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9044974	-	OV-AU|1|93|0.01075	-	-	integument phenotype,integument phenotype	Vitiligo vulgaris |Neuroectodermal tumours, association with|Imatinib resistance in hypereosinophilic syndrome|Hypereosinophilic syndrome|Gastrointestinal stromal tumour|Gastrointestinal stromal & other tumours |Diaphragmatic hernia, congenital |Cleft palate, isolated,Mastocytosis with haematologic disorder|Mastocytosis, diffuse cutaneous|Mastocytosis, diffuse cutaneous.|Piebaldism|Piebaldism and auburn hair|Piebaldism with cafe-au-lait macules & intertriginous freckling|Mastocytosis predisposition|Mastocytosis|Gastrointestinal tumour, stromal.|Gastrointestinal tumour, stromal|Gastrointestinal stromal tumour & mastocytosis|Gastrointestinal stromal tumors and urticaria pigmentosa|Altered miRNA:target gene mRNA duplex conformation |Acral melanoma, increased risk, association with|Achalasia, association with	COSMIC,ICGC,
chr6	154436646	154436646	G	A	intronic	OPRM1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype	Striatal dopamine response to alcohol|Post-operative pain response, association with|Pressure pain sensitivity in females, association with|Proinflammatory cytokine levels and health perception, association with|Reduced agonist potency|Reduced agonist potency, association with|Reduced expression|Reduced promoter activity|Smoking behaviour, increased susceptibility|Pain perception, association with|Increased promoter activity|Impaired receptor signalling|Addiction, association with|Altered beta-endorphin binding, association with|Altered reinforcement learning, association with|Altered trafficking and/or signalling|Decreased body mass index, association with|Decreased receptor expression|Drug intake, association with |Epilepsy|Epilepsy, association with 	ICGC,
chr15	63799932	63799932	G	A	intronic	USP3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr1	119456381	119456381	T	A	intronic	TBX15	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LINC-JP|1|394|0.00254	-	-	integument phenotype	Cousin syndrome	ICGC,
chr1	68450736	68450736	C	A	ncRNA_intronic	GNG12-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr19	48041464	48041464	T	C	exonic	ZNF541	nonsynonymous	SNV	0.0	1.0	-	-	-	-	-	-	-	COSM1394919	COAD|1|367|0.00272,COADREAD|1|489|0.00204	COAD-US|1|254|0.00394	-	-	-	-	COSMIC,TCGA,ICGC,
chr13	33920862	33920862	G	T	intronic	STARD13	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Schizophrenia	ICGC,
chr6	130321029	130321029	G	A	intergenic	TMEM244,L3MBTL3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,-	ICGC,
chr5	22878592	22878592	G	A	intergenic	CDH12,PRDM9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|2|100|0.02000,MELA-AU|1|183|0.00546	-	-	-,reproductive system phenotype	Lung cancer, susceptibility to, association with,Altered meiotic recombination hotspot usage|Azoospermia by meiotic arrest, association with |Azoospermia, non-obstructive 	ICGC,
chr4	104870296	104870296	G	A	intergenic	TACR3,CXXC4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,-	Kallmann syndrome|Hypogonadotropic hypogonadism,-	ICGC,
chr4	159471796	159471796	G	A	intronic	RXFP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype	-	ICGC,
chr4	118022534	118022534	C	T	intergenic	TRAM1L1,NDST3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,-	ICGC,
chr2	106875842	106875842	C	G	intergenic	UXS1,PLGLA	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16246325	-	PRAD-CA|1|308|0.00325	-	-	mortality/aging,-	-,-	COSMIC,ICGC,
chr8	88541905	88541905	C	T	intergenic	CNBD1,DCAF4L2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	115179222	115179222	C	G	intergenic	LINC01191,DPP10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	-,-	-,Autism spectrum disorder	ICGC,
chr2	168087093	168087093	T	C	intronic	XIRP2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25553913	-	MALY-DE|1|241|0.00415	-	-	integument phenotype	Schizophrenia	COSMIC,ICGC,
chr5	23069267	23069267	T	C	intergenic	CDH12,PRDM9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,reproductive system phenotype	Lung cancer, susceptibility to, association with,Altered meiotic recombination hotspot usage|Azoospermia by meiotic arrest, association with |Azoospermia, non-obstructive 	ICGC,
chr2	75278223	75278251	AGCCAGGCTGAGTTGTGTGATGATAAGTT	-	UTR3	TACR1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	integument phenotype	-	ICGC,
chr18	50426192	50426192	C	G	intronic	DCC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Altered p53 transactivation|Colorectal cancer, risk, association with |Mirror movements, congenital	ICGC,
chr14	50220248	50220248	A	G	downstream	KLHDC1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1168529	-	LINC-JP|1|394|0.00254	-	-	-	Schizophrenia  	COSMIC,ICGC,
chr8	88657871	88657871	C	T	intergenic	CNBD1,DCAF4L2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chrX	101818327	101818327	C	T	ncRNA_exonic	NXF4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSM6860382	-	BTCA-SG|1|71|0.01408	-	-	-	-	COSMIC,ICGC,
chr16	23641520	23641520	C	T	exonic	PALB2	nonsynonymous	SNV	1.0	0.0	8.529e-05	6.46e-05	rs587781818	7.431e-05	-	-	-	-	-	-	Fanconi_anemia|Hereditary_cancer-predisposing_syndrome|Familial_cancer_of_breast	-	mortality/aging	VACTERL with Fanconi anaemia|Triple-negative breast cancer|reast and/or ovarian cancer.|Prostate cancer  |Peritoneal carcinoma|Pancreatic cancer|Ovarian carcinoma|Ovarian cancer|Neuroblastoma|Multiple cancers|Breast and/or ovarian cancer|Breast and/or pancreatic cancer |Breast cancer |Breast cancer, increased risk |Breast cancer, male|Breast cancer.|Fanconi anaemia, N type	ClinVar,
chr15	70358513	70358513	G	A	exonic	TLE3	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM5524010	-	-	-	-	mortality/aging	-	COSMIC,COSMIC,
chr1	79732373	79732373	G	A	intergenic	ELTD1,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	normal phenotype,-	-,-	ICGC,
chr2	188450030	188450030	G	T	intergenic	TFPI,GULP1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5491986	-	-	-	-	integument phenotype,-	Increased plasma TFPI|Lower plasma TFPI|Reduced expression|Thrombophilia, association with,-	COSMIC,
chr7	16569200	16569200	A	G	intronic	LRRC72	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr8	129538652	129538652	C	T	ncRNA_intronic	LINC00824	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr8	132075029	132075029	A	T	intergenic	ADCY8,EFR3A	unknown	SNV	-	-	-	0.0008	rs546597973	-	0.000199681	-	-	-	-	LICA-CN|1|402|0.00249	-	-	integument phenotype,-	Myocardial infarction  ,Autism|Potential protein deficiency	ICGC,
chr11	43208819	43208819	G	A	intergenic	LOC100507205,HNRNPKP3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	56927342	56927342	A	G	intergenic	MIR4422,PPAP2B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8474931	-	OV-AU|1|93|0.01075	-	-	-,mortality/aging	-,-	COSMIC,ICGC,
chr2	15022369	15022369	G	C	intergenic	LOC653602,NBAS	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,Short stature, optic atrophy & Pelger-Huet 	ICGC,
chr2	119662040	119662040	T	C	intergenic	EN1,MARCO	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,mortality/aging	-,-	ICGC,
chr12	93786736	93786736	C	T	ncRNA_intronic	NUDT4P1,NUDT4P2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22946426	-	PAEN-IT|1|37|0.02703	-	-	-,-	-,-	COSMIC,COSMIC,ICGC,
chr6	164855977	164855977	-	G	intergenic	QKI,C6orf118	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN14739205	-	-	-	-	mortality/aging,-	6q terminal deletion syndrome,-	COSMIC,
chr7	112361053	112361053	A	G	intergenic	LOC101928012,TMEM168	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr7	20358653	20358653	C	A	intergenic	LOC101927769,LOC101927811	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19398086	-	-	-	-	-,-	-,-	COSMIC,
chr10	54839796	54839796	C	T	intergenic	MBL2,PCDH15	unknown	SNV	-	-	-	0.2234	rs61844587	-	0.176318	-	0.174	-	-	LAML-KR|1|205|0.00488	-	-	hematopoietic system phenotype,vision/eye phenotype	Leprosy, association with|Lung cancer survival, association with|Mannose-binding protein deficiency, association|Placental malaria, susceptibility to, association with|Systemic lupus erythematosus, association with|Tuberculosis, protection against, association with|Type 2 diabetes, association with|Ulcerative colitis, association with.|Vulvovaginal candidiasis, recurrent, association with|Lepromatous leprosy, protection against, association with|Kawasaki disease, association with|Antiphospholipid syndrome, association with|Bacterial infection, increased risk, association with|Colon cancer, association with|Crohn's disease, in children, association with|Dental caries, association with.|HIV-1 infection, increased susceptibility, association with|HIV-1 infection, susceptibility, association|Increased serum MBL level |Infection, in children, association with.,Usher syndrome II|Usher syndrome 1f|Usher syndrome 1|Lipid levels in hyperlipidaemia, association with|Hearing loss, non-syndromic|Deafness, non-syndromic, autosomal recessive|Deafness, non-syndromic |Deafness  	ICGC,
chr17	22076127	22076127	C	T	intergenic	MTRNR2L1,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	177070889	177070889	G	T	intronic	WDR17	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16845133	-	PACA-CA|1|268|0.00373	-	-	-	-	COSMIC,ICGC,
chrX	64267961	64267961	C	T	intergenic	ZC4H2,ZC3H12B	unknown	SNV	-	-	-	9.338e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Arthrogryposis multiplex congenita and intellectual disability,Autism spectrum disorder	ICGC,
chr13	35175759	35175759	A	T	ncRNA_intronic	LINC00457	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332,MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr10	72015446	72015446	T	C	exonic	NPFFR1	nonsynonymous	SNV	0.324	0.753	-	-	-	-	-	-	-	COSM6427757	-	THCA-CN|1|50|0.02000	-	-	-	-	COSMIC,COSMIC,ICGC,
chr7	53777195	53777195	C	T	ncRNA_intronic	LINC01446	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr5	52002339	52002339	G	A	intergenic	ISL1,PELO	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	integument phenotype,mortality/aging	Cardiomyopathy, dilated|Diabetes, type 2|Intellectual and developmental disabilities,-	ICGC,
chr7	70368216	70368216	C	T	intergenic	AUTS2,WBSCR17	unknown	SNV	-	-	-	0.0008	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-,-	Speech & language disorder, tonic-clonic movements & pes planus|Myoclonic epilepsy, juvenile |Mental retardation|Intellectual disability, syndromic  |Epilepsy, nonlesional |Developmental delay, intellectual disability, short stature, ptosis & dysmorphism|Developmental delay  |Autism spectrum disorder  |Autism,-	ICGC,
chr3	169360109	169360109	G	A	intronic	MECOM	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Decreased expression|Thrombocytopaenia with aplastic anaemia	ICGC,
chr7	16194598	16194598	C	-	intronic	ISPD	unknown	deletion	-	-	-	-	-	-	-	-	-	COSN23732427	-	ORCA-IN|1|178|0.00562	-	-	-	Walker-Warburg syndrome / muscle-eye-brain disease|Walker-Warburg syndrome|Muscular dystrophy, limb girdle with mental retardation|Muscular dystrophy, limb girdle with cerebellar involvement|Muscular dystrophy, limb girdle|Muscular dystrophy, congenital|Muscle-eye-brain disease|Cobblestone lissencephaly	COSMIC,ICGC,
chr7	118604931	118604931	C	T	intergenic	ANKRD7,KCND2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,integument phenotype	-,Epilepsy, temporal lobe	ICGC,
chr3	126846134	126846134	A	G	intergenic	PLXNA1,C3orf56	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	hematopoietic system phenotype,-	Atrial septal defect |Schizophrenia,-	ICGC,
chr19	20706699	20706699	G	A	intergenic	ZNF826P,ZNF737	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr14	26470363	26470363	G	A	intergenic	STXBP6,NOVA1	unknown	SNV	-	-	-	-	rs576263354	-	0.000199681	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,mortality/aging	-,-	ICGC,
chr6	138752681	138752682	GG	-	exonic	NHSL1	frameshift	deletion	-	-	-	-	-	-	-	-	-	-	UCEC|1|248|0.00403	-	-	-	-	-	TCGA,
chr11	81699241	81699241	C	A	ncRNA_intronic	LOC101928989	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8874391	-	OV-AU|1|93|0.01075	-	-	-	-	COSMIC,ICGC,
chr1	195870728	195870728	C	A	intergenic	NONE,KCNT2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	ICGC,
chr5	31551424	31551424	G	A	exonic	C5orf22	nonsynonymous	SNV	0.014	1.0	8.141e-06	-	rs768733012	8.24e-06	-	-	-	COSM6483388	-	-	-	-	-	-	COSMIC,
chr17	41243702	41243702	T	C	exonic	BRCA1	synonymous	SNV	-	-	-	-	-	-	-	-	-	-	-	-	Hereditary_cancer-predisposing_syndrome	-	integument phenotype	Peritoneal carcinoma|Papillary thyroid carcinoma, increased risk|Papillary thyroid cancer, reduced risk|Pancreatic cancer   |Pancreatic adenocarcinoma|Ovarian carcinoma.|Ovarian carcinoma|Ovarian cancer, early-onset.|Ovarian cancer, association with|Ovarian cancer ?|Ovarian cancer|Ovarian / peritoneal carcinoma|Neuronal migration defect|Potential protein deficiency|Prolonged survival in advanced gastric cancer, association with|Prostate cancer|Uterine serous carcinoma.|Triple-negative breast cancer|Thyroid carcinoma, multifocal primary, reduced risk|Thyroid cancer, ovarian cancer, and thymic malignant melanoma ?|Serous tubal intraepithelial carcinoma.|Renal cell carcinoma.|Renal cell carcinoma in males|Reduced promoter activity|Reduced activity, association with|Reduced 3'UTR activity|Prostate cancer.|Prostate cancer, early-onset, association with.|Prostate cancer risk|Mean number of breaks per cell, association with|Altered promoter activity|Breast cancer, increased risk|Breast cancer, early-onset.|Breast cancer, early-onset|Breast cancer, descreased risk, association with|Breast cancer, bilateral basal-like|Breast cancer, association with|Breast cancer, association |Breast cancer & multiple sclerosis|Breast cancer|Breast and/or ovarian cancer.|Breast and/or ovarian cancer |Breast and colorectal cancer|Altered radiation exposure-response relationship|Breast cancer, protection against, association with |Breast cancer, susceptibility to |Low-grade adenosquamous carcinoma of the breast, association with|Li-Fraumeni-like syndrome|Glioblastoma multiforme, association with|Gastric cancer|Fallopian tube carcinoma|Fallopian tube / ovarian carcinoma|Endometriosis, association with |Endometrial cancer.|Breast cancer, triple-negative|Breast cancer.|Cervical cancer, decreased risk, association with|Colorectal cancer |Ductal carcinoma in situ|Endometrial cancer   	ClinVar,
chr2	2738373	2738373	G	A	intergenic	MYT1L,LINC01250	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Schizophrenia, childhood onset  |Schizophrenia  |Intellectual disability, obesity, hyperphagia & behavioural difficulties|Intellectual disability, obesity & hyperactivity|Intellectual disability  |Brain malformations |Autism ,-	ICGC,
chr20	38319193	38319193	C	T	intergenic	LOC339568,LINC01370	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr2	221418033	221418033	G	A	intergenic	MIR4268,EPHA4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,reproductive system phenotype	-,Amyotrophic lateral sclerosis, reduced disease severity	ICGC,
chr10	22127595	22127595	C	A	intronic	DNAJC1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16081511	-	PACA-CA|1|268|0.00373	-	-	-	-	COSMIC,ICGC,
chr2	1090835	1090835	C	T	intronic	SNTG2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Autism spectrum disorder  |Schizophrenia  	ICGC,
chr2	212894831	212894831	G	A	intronic	ERBB4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Schizophrenia |Oligohydramnios|Intellectual disability, hyperactivity & speech developmental delay|Increased promoter activity|Hepatocellular carcinoma, increased risk, association with|Epileptic encephalopathy, early infantile 3|Breast and colorectal cancer, association with|Bipolar disorder, association with |Bipolar disorder |Autism spectrum disorder  |Amyotrophic lateral sclerosis type 19	ICGC,
chr1	151221281	151221281	C	T	UTR3	PIP5K1A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	-	ICGC,
chr9	9326340	9326340	G	A	intronic	PTPRD	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	integument phenotype	Restless legs syndrome, association with|Ewing sarcoma	ICGC,
chr13	56879359	56879359	T	C	intergenic	MIR5007,PRR20A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23475445	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr11	48652784	48652784	T	G	intergenic	OR4A47,TRIM49B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15219913	-	ESAD-UK|2|301|0.00664,PACA-CA|1|268|0.00373,MELA-AU|1|183|0.00546	-	-	-,-	-,-	COSMIC,COSMIC,COSMIC,ICGC,
chr15	23637344	23637348	TTTTG	-	intergenic	GOLGA8S,MIR4508	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr8	79243326	79243326	G	A	intergenic	PEX2,PKIA	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN60663	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,normal phenotype	Zellweger syndrome|Refsum disease, infantile|Peroxisome biogenesis disorder|Cerebellar ataxia, autosomal recessive,-	COSMIC,ICGC,
chr20	55161910	55161910	G	A	intergenic	FAM209B,TFAP2C	unknown	SNV	-	-	-	9.773e-05	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,-	ICGC,
chr11	66311479	66311479	-	C	intronic	ZDHHC24	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LINC-JP|1|394|0.00254	-	-	-	-	ICGC,
chr12	24132676	24132676	G	T	intronic	SOX5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging	Intellectual disability  |Developmental delays|Autism spectrum disorder  	ICGC,
chr12	6936194	6936194	T	-	exonic	GPR162	frameshift	deletion	-	-	-	-	-	-	-	-	-	-	-	LINC-JP|1|394|0.00254	-	-	-	-	ICGC,
chr15	98143978	98143978	T	C	intergenic	LOC101927310,LINC00923	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	147767572	147767572	T	A	intergenic	LOC440982,AGTR1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,Hypertrophic cardiomyopathy, association with|Increased left ventricular mass, association with|Myocardial infarction, acute, association with|Potential protein deficiency|Preeclampsia, association with|Reduced function|Renal tubular dysgenesis|Right coronary artery in STEM1, association with|Severe chronic periodontitis, association with|Hypertension, association with.|Hypertension, association with|Friedreich ataxia, modifier of|Acromegaly, association with|Atrial fibrillation, association with|Benign prostatic hyperplasia, association with|Blood pressure variation in response to potassium, association with|Body mass index, association with|Breast cancer, reduced risk|Carotid intima-media thickness, association with|Chronic kidney disease, association with|Diastolic heart failure, increased risk, association with	ICGC,
chrX	129162622	129162622	G	A	exonic	BCORL1	nonsynonymous	SNV	0.0	0.779	5.604e-06	-	-	-	-	-	-	COSM3390415	-	PACA-AU|1|391|0.00256	-	-	-	Intellectual disability, coarse face & hypotonia|Autism spectrum disorder|Autism	COSMIC,COSMIC,ICGC,
chr5	84531156	84531156	C	A	intergenic	EDIL3,NBPF22P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	immune system phenotype,-	Schizophrenia  ,-	ICGC,
chr16	72048450	72048450	G	T	exonic	DHODH	nonsynonymous	SNV	0.003	0.999	-	-	-	-	-	-	-	COSM973426	UCEC|1|248|0.00403	LICA-CN|1|402|0.00249,UCEC-US|1|250|0.00400	-	-	-	Miller syndrome	COSMIC,TCGA,ICGC,
chr8	34423420	34423420	C	T	intergenic	DUSP26,UNC5D	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr5	105451255	105451255	A	T	intergenic	RAB9BP1,LOC102467213	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2057728	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr2	176093525	176093525	A	G	intergenic	ATP5G3,KIAA1715	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,-	ICGC,
chr18	14698267	14698267	G	A	intergenic	POTEC,ANKRD30B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	140550674	140550674	C	T	intergenic	YY1P2,LRP1B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Schizophrenia   	ICGC,
chr19	13900073	13900073	C	T	intergenic	C19orf53,ZSWIM4	unknown	SNV	-	-	0.0001	-	rs767976744	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr18	52473770	52473770	-	TA	intergenic	DYNAP,RAB27B	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,integument phenotype	-,-	ICGC,
chr13	111551901	111551901	G	T	intronic	ANKRD10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-	-	ICGC,
chr21	10026442	10026442	T	A	intergenic	TEKT4P2,TPTE	unknown	SNV	-	-	-	0.1783	-	-	-	-	-	COSN17502971	-	SKCA-BR|2|100|0.02000,LUSC-KR|1|170|0.00588	-	-	-,-	-,Potential protein deficiency	COSMIC,ICGC,
chr19	230990	230990	A	C	intergenic	LINC01002,PPAP2C	unknown	SNV	-	-	-	0.0111	-	-	-	-	-	COSN23899404	-	LAML-KR|2|205|0.00976,LUSC-KR|1|170|0.00588	-	-	-,normal phenotype	-,-	COSMIC,ICGC,
chr7	93426381	93426381	C	A	intergenic	MIR4652,TFPI2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-UK|1|140|0.00714	-	-	-,-	-,-	ICGC,
chr2	133007844	133007844	G	A	ncRNA_intronic	ANKRD30BL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-	-	ICGC,
chr15	29320850	29320850	C	T	intronic	APBA2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	mortality/aging	Autism |Schizophrenia	ICGC,
chr5	11167574	11167574	C	A	intronic	CTNND2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26015427	-	ESAD-UK|1|301|0.00332	-	-	behavior/neurological phenotype	Schizophrenia  |Lennox-Gastaut syndrome |Autism spectrum disorder|Anorectal malformation|Altered localisation	COSMIC,COSMIC,COSMIC,ICGC,
chr1	205867923	205867923	G	A	intergenic	LOC284581,SLC26A9	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17217535	-	PACA-CA|1|268|0.00373	-	-	-,digestive/alimentary phenotype	-,Bronchiectasis, diffuse ideopathic|Increased current and chloride ion transport|Reduced current and chloride ion transport|Reduced protein expression	COSMIC,ICGC,
chr11	127548033	127548033	G	A	intergenic	LOC101929497,ETS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Systemic lupus erythematosus, association with	ICGC,
chr14	77950765	77950765	C	T	exonic	ISM2	synonymous	SNV	-	-	0.0017	0.0007	rs190117570	0.0016	0.00139776	0.0015	-	COSM5458483	-	COCA-CN|1|321|0.00312	-	-	-	-	COSMIC,ICGC,
chr14	56255272	56255272	C	T	ncRNA_intronic	LINC00520	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr1	194747700	194747700	GG	AA	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr14	59519086	59519086	C	A	intergenic	LOC102723742,DAAM1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7022816	-	PACA-AU|1|391|0.00256	-	-	-,mortality/aging	-,Congenital heart defect  	COSMIC,ICGC,
chr12	131177318	131177318	A	C	intergenic	RIMBP2,STX2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5714099	-	LINC-JP|1|394|0.00254	-	-	-,hematopoietic system phenotype	-,-	COSMIC,ICGC,
chr2	142112785	142112785	G	A	intronic	LRP1B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Schizophrenia   	ICGC,
chr8	38797562	38797562	T	C	intronic	PLEKHA2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	cardiovascular system phenotype	-	ICGC,
chr20	8929969	8929969	G	T	intergenic	PLCB1,PLCB4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	mortality/aging,mortality/aging	Wolff-Parkinson-White syndrome|Schizophrenia  |Malignant migrating partial seizures in infancy|Epileptic encephalopathy, severe infantile|Epileptic encephalopathy, early onset|Atrioventricular septal defects,Auriculocondylar syndrome	ICGC,
chr10	3380208	3380208	T	-	intergenic	PITRM1,KLF6	unknown	deletion	-	-	-	0.8812	rs36110956	-	0.882987	-	-	COSN18776445	-	-	-	-	-,integument phenotype	-,Decreased promoter activity|Lung adenocarcinoma, reduced risk, association with.|Nonalcoholic fatty liver disease fibrosis, association with|Prostate cancer |Prostate cancer, risk, association with|Reduced hepatic insulin resistance	COSMIC,
chrX	16720363	16720363	G	A	intronic	CTPS2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1388059	-	LINC-JP|1|394|0.00254	-	-	normal phenotype	-	COSMIC,ICGC,
chr13	33809833	33809833	G	A	intronic	STARD13	unknown	SNV	-	-	-	0.0004	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Schizophrenia	ICGC,
chr6	63124485	63124485	G	T	intergenic	KHDRBS2,LGSN	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr6	126989643	126989643	C	T	intergenic	NONE,RSPO3	unknown	SNV	-	-	-	3.23e-05	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,-	ICGC,
chr3	129191297	129191297	C	T	intronic	IFT122	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Cranioectodermal dysplasia	ICGC,
chr13	67672057	67672057	C	T	intronic	PCDH9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	-	-	ICGC,
chr1	242482658	242482658	C	A	intronic	PLD5	unknown	SNV	-	-	-	0.5068	rs2796089	-	0.626997	-	0.109	COSN15113876	-	-	-	-	-	-	COSMIC,
chr9	27804593	27804593	C	A	intergenic	C9orf72,LINGO2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	Frontotemporal dementia, early-onset behavioral variant.|Frontotemporal dementia/Amyotrophic lateral sclerosis.|Huntington disease phenocopy|Lund frontotemporal dementia|Multiple neurodegenerative syndromes|Multiple sclerosis-amyotrophic lateral sclerosis.|Olivopontocerebellar degeneration/atypical Parkinsonian syndrome/corticobasal syndrome.|Parkinson disease  |Schizophrenia  |Frontotemporal dementia, behavioural variant|Frontotemporal dementia with psychosis, parkinsonism, visuo-spatial dysfunction, upper motor neuron involvement.|Alzheimer disease|Alzheimer disease.|Amyotrophic lateral sclerosis|Amyotrophic lateral sclerosis / frontotemporal dementia  |Bipolar affective disorder preceding frontotemporal dementia.|Bipolar disorder  |Dementia.|Frontotemporal dementia|Frontotemporal dementia / motor neuron disease,Autism spectrum disorder  |Developmental delay with absent speech	ICGC,
chr7	141755366	141755366	C	T	exonic	MGAM	nonsynonymous	SNV	0.0	1.0	-	-	-	-	-	-	-	-	LUAD|1|543|0.00184	-	-	-	homeostasis/metabolism phenotype	-	TCGA,
chr11	12761405	12761405	G	A	intronic	TEAD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging	Sveinsson chorioretinal atrophy	ICGC,
chr2	56081142	56081142	G	A	intergenic	PNPT1,EFEMP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,integument phenotype	Hearing loss  |Respiratory chain deficiency ,Malattia leventinese	ICGC,
chr8	23654833	23654833	G	C	intergenic	NKX2-6,STC1	unknown	SNV	-	-	-	0.2711	rs429371	-	0.284944	-	0.196	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,reproductive system phenotype	DiGeorge syndrome|Common arterial trunk,-	ICGC,
chr2	186646287	186646287	C	T	intronic	FSIP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	-	ICGC,
chr5	162321030	162321030	C	G	intergenic	GABRG2,CCNG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,mortality/aging	Seizures, generalized tonic-clonic|Myoclonic epilepsy of infancy |Generalized epilepsy with febrile seizures plus|Febrile seizures|Epilepsy, susceptibility to|Epilepsy, idiopathic generalised  |Epilepsy, childhood absence with febrile seizures|Dravet syndrome,-	ICGC,
chr11	817271	817271	C	A	intergenic	RPLP2,PNPLA2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,integument phenotype	-,Triglyceride deposit cardiomyovasculopathy|Reduced activity|Potential protein deficiency|Neutral lipid storage disease with myopathy|Hypercholesterolaemia ?|Distal myopathy & lipodystrophy	ICGC,
chr2	7212138	7212138	C	A	ncRNA_intronic	LOC101929452	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1242176	-	LINC-JP|1|394|0.00254	-	-	-	-	COSMIC,ICGC,
chr18	49933576	49933576	T	C	intronic	DCC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Altered p53 transactivation|Colorectal cancer, risk, association with |Mirror movements, congenital	ICGC,
chr1	20624363	20624363	T	A	intronic	VWA5B1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	-	ICGC,
chrX	120521762	120521762	G	A	intergenic	GLUD2,GRIA3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	Parkinson disease, earlier onset, association with,Mental retardation, X-linked|Intellectual disability, X-linked with facial dysmorphism|Intellectual disability, X-linked|Autism spectrum disorder	ICGC,
chr11	40042759	40042759	A	T	intergenic	LOC101928536,LRRC4C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr8	17002323	17002323	C	T	intergenic	MICU3,ZDHHC2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-,-	-,-	ICGC,
chr3	688839	688839	G	A	ncRNA_intronic	LINC01266	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr7	51588889	51588889	C	T	intergenic	COBL,POM121L12	unknown	SNV	-	-	-	0.2792	rs35535131	-	0.283546	-	0.261	-	-	ESAD-UK|2|301|0.00664	-	-	nervous system phenotype,-	-,-	ICGC,
chr4	950086	950086	G	T	intronic	TMEM175	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr5	160325122	160325122	A	G	intergenic	ATP10B,LOC285629	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	ICGC,
chr13	111665848	111665848	A	G	intergenic	ANKRD10,LINC00368	unknown	SNV	-	-	-	0.1636	rs1571862	-	0.119609	-	0.123	-	-	ESAD-UK|2|301|0.00664	-	-	-,-	-,-	ICGC,
chr5	100599128	100599128	G	A	intergenic	ST8SIA4,SLCO4C1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|2|100|0.02000,MELA-AU|5|183|0.02732	-	-	mortality/aging,-	-,-	ICGC,
chr3	30551656	30551656	G	A	intergenic	RBMS3,TGFBR2	unknown	SNV	-	-	-	3.231e-05	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,Loeys-Dietz syndrome|Loeys-Dietz syndrome, type II|Marfan syndrome II|Marfan syndrome, incomplete|Marfan-like syndrome|Microcephaly & developmental delay|Non-SGS marfanoid craniosynostosis|Potential protein deficiency|Shprintzen-Goldberg syndrome|Loeys-Dietz aortic aneurysm syndrome|Leprosy, association with|Iron overload disease, ferroportin-associated|Allergic disease, predisposition to|Aortic aneurysm |Aortic aneurysm, thoracic|Breast cancer, protection against, association with.|Cervical artery dissection, spontaneous|Colorectal cancer |Colorectal cancer, non-polyposis|Gastric cancer, reduced risk, association with|Giant cell carcinoma	ICGC,
chr18	73605330	73605330	C	T	intergenic	SMIM21,LOC339298	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9844630	-	RECA-EU|1|422|0.00237	-	-	-,-	-,-	COSMIC,ICGC,
chr22	21977974	21977974	G	T	UTR3	UBE2L3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	mortality/aging	-	ICGC,
chr2	189679738	189679738	C	T	intergenic	DIRC1,COL3A1	unknown	SNV	-	-	-	3.234e-05	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,integument phenotype	-,Ehlers-Danlos syndrome, vascular-type|Intracranial aneurysm, association with  |Pelvic organ prolapse, association with|Potential protein deficiency|Thoracic aortic aneurysms and dissections|Ehlers-Danlos syndrome IV, vascular-type|Ehlers-Danlos syndrome IV|Ehlers-Danlos syndrome III|Ehlers-Danlos syndrome|Ehlers-Danlos IV with features of EDS I/II & muscle hypertrophy|Aortic aneurysm |Acrogeria, Gottron	ICGC,
chr12	44853234	44853234	G	A	intergenic	TMEM117,NELL2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,nervous system phenotype	-,-	ICGC,
chr1	174513169	174513169	T	C	intronic	RABGAP1L	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	normal phenotype	-	ICGC,
chr1	93192338	93192338	GG	AT	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chrX	147278687	147278687	C	A	intergenic	FMR1NB,AFF2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,integument phenotype	-,Premature ovarian failure|Mental retardation  |Intellectual disability, X-linked|Intellectual disability, hypotonia & dysmorphic features|Intellectual disability, ataxia & bilateral inguinal hernia|Intellectual disability & autism|Fragile site, FRAXE|Developmental delay  |Autism spectrum disorder|Autism|Altered expression	ICGC,
chr3	189226942	189226942	-	AGTG	intergenic	TPRG1,TP63	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|2|67|0.02985	-	-	-,integument phenotype	-,EECUT plus syndrome|Limb-mammary syndrome|Lung adenocarcinoma, susceptibility to, association with|Rapp-Hodgkin syndrome|Rapp-Hodgkin/AEC/ADULT syndrome|Split hand-split foot malformation with amelogenesis imperfecta|Split-hand/split-foot and anorectal malformations.|Split-hand/split-foot malformation|EEC syndrome without clefting|EEC syndrome with linear and whorled naevoid hypermelanosis|ADULT syndrome|ADULT syndrome with cleft palate|AEC / Rapp-Hodgkin syndrome|AEC syndrome|Cleft lip, non-syndromic|Cleft palate, hypohidrosis and oligodontia|Ectrodactyly, ectodermal dysplasia, & clefting/Ectrodactyly-ectoderm. dyspl./Ectoderm. dyspl./Split hand-foot malf. type 4.|EEC syndrome	ICGC,
chr11	25605258	25605258	T	A	intergenic	LUZP2,ANO3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21836694	-	BRCA-EU|1|569|0.00176	-	-	normal phenotype,-	Anorectal malformation,Craniocervical dystonia|Dystonia, primary torsion	COSMIC,ICGC,
chr8	58287396	58287396	C	T	intergenic	LINC00588,FAM110B	unknown	SNV	-	-	-	3.233e-05	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-,-	-,-	ICGC,
chr15	47272979	47272979	A	C	intergenic	SQRDL,SEMA6D	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,immune system phenotype	-,Developmental language disorder 	ICGC,
chr5	87747638	87747638	G	T	intergenic	LOC102546226,LINC00461	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7778578	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	COSMIC,COSMIC,ICGC,
chr1	150938694	150938694	C	-	exonic	CERS2	frameshift	deletion	-	-	-	-	-	-	-	-	-	COSM5511565	-	BTCA-JP|1|239|0.00418	-	-	integument phenotype	Rhegmatogenous retinal detachment, reduced risk	COSMIC,ICGC,
chr2	230177657	230177657	G	A	intergenic	PID1,DNER	unknown	SNV	-	-	-	-	rs568549962	-	0.000199681	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,behavior/neurological phenotype	Anorectal malformation,-	ICGC,
chr5	144469761	144469761	G	T	intergenic	KCTD16,PRELID2	unknown	SNV	-	-	-	0.0795	rs72810472	-	0.0443291	-	0.087	COSN14786083	-	-	-	-	-,-	-,-	COSMIC,
chr4	190103607	190103607	C	T	intergenic	LINC01060,LINC01262	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	25578901	25578901	G	A	intergenic	DNMT3A,DTNB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging,behavior/neurological phenotype	Overgrowth syndrome with intellectual disability|Gastric cancer, susceptibility to |Gastric cancer, association with  |Autism spectrum disorder|Autism,Developmental delay, hypotonia & cryptorchism	ICGC,
chr1	33600410	33600410	C	G	intergenic	AZIN2,TRIM62	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr14	87299710	87299710	A	-	intergenic	LOC101928767,LOC283585	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813,NKTL-SG|1|50|0.02000	-	-	-,-	-,-	ICGC,
chr15	69820662	69820662	C	T	intergenic	RPLP1,LOC145837	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	196819866	196819866	G	T	intronic	DNAH7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	Autism spectrum disorder	ICGC,
chr11	100951506	100951506	A	-	intronic	PGR	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype	Transient tachypnea of newborn, reduced risk |Prostate cancer, association with|Panic disorder, association with|Ovarian cancer, risk, association with|Migraine-vertigo|Insensitivity to mifepristone|Endometriosis, reduced risk, association with|Endometriosis, deep infiltrating, reduced risk, association with|Endometriosis, deep infiltrating, increased risk, association|Endometriosis, association with |Endometrioid and clear cell ovarian cancers, reduced risk|Endometrial cancer, increased risk, association	ICGC,
chr3	187603197	187603197	A	G	intergenic	BCL6,LPP-AS2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21666873	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging,-	-,-	COSMIC,ICGC,
chr1	117323594	117323594	G	A	intergenic	CD2,PTGFRN	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	normal phenotype,behavior/neurological phenotype	Rheumatoid arthritis, reduced risk,-	ICGC,
chr3	79198432	79198432	G	T	intronic	ROBO1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23270717	-	MALY-DE|1|241|0.00415	-	-	mortality/aging	Developmental dyslexia 	COSMIC,ICGC,
chr13	83797490	83797490	G	T	intergenic	NONE,SLITRK1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,Trichotillomania|Tourette syndrome|Obsessive-compulsive disorder |Attention deficit hyperactivity disorder 	ICGC,
chr6	15984615	15984615	-	TGGATAT	intergenic	DTNBP1,MYLIP	unknown	insertion	-	-	-	0.0038	rs141773447	-	-	-	-	COSN18760205	-	-	-	-	integument phenotype,-	Colorectal cancer, increased risk, association with|Hermansky-Pudlak syndrome,High total cholesterol levels, association with|Low LDL cholesterol	COSMIC,
chr7	13849397	13849397	T	G	intergenic	ARL4A,ETV1	unknown	SNV	-	-	-	0.0004	-	-	-	-	-	COSN20296379	-	GACA-CN|2|123|0.01626,LUSC-KR|1|170|0.00588	-	-	reproductive system phenotype,mortality/aging	-,-	COSMIC,COSMIC,ICGC,
chr2	14253109	14253109	A	C	intergenic	LOC100506474,LINC00276	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16589307	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	COSMIC,ICGC,
chr8	105636470	105636470	G	A	intergenic	LRP12,ZFPM2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	-,integument phenotype	-,Atrial septal defect & gonadal dysgenesis|Diaphragmatic hernia, congenital|Double outlet right ventricle |Gonadal dysgenesis |Reduced activity|Tetralogy of Fallot 	ICGC,
chr19	31457467	31457467	G	A	intergenic	ZNF536,TSHZ3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25889684	-	EOPC-DE|1|202|0.00495	-	-	-,integument phenotype	Schizophrenia,-	COSMIC,ICGC,
chr19	16006916	16006916	-	CCCT	intronic	CYP4F2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	Warfarin responsiveness, association with|Warfarin dosage|Stroke, increased risk, association with|Ischemic stroke, increased risk|Ischaemic stroke, association with|Increased vitamin E-{omega}-hydroxylase activity to tocopherols|Increased arterial wave reflections in male Chinese, association|Decreased 20-HETE production, association with|Coumarin dose requirement, association with	ICGC,
chr11	82663452	82663454	AGG	-	intergenic	DDIAS,RAB30	unknown	deletion	-	-	-	-	-	-	-	-	-	COSN19529846	-	-	-	-	-,-	-,-	COSMIC,
chr8	40580191	40580191	G	A	intronic	ZMAT4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|5|183|0.02732	-	-	-	-	ICGC,
chr3	23655495	23655495	C	T	intergenic	MIR548AC,UBE2E1-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312,ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr9	22510821	22510821	G	A	intergenic	DMRTA1,LINC01239	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	taste/olfaction phenotype,-	-,-	ICGC,
chr14	65733911	65733914	TCTT	-	intergenic	LOC100128233,MIR4708	unknown	deletion	-	-	-	0.0161	rs138640567	-	-	-	0.072	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr5	124171949	124171949	-	AC	intergenic	ZNF608,LOC101927421	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN22782709	-	-	-	-	-,-	-,-	COSMIC,COSMIC,
chr9	38651897	38651897	G	A	intergenic	FAM201A,CNTNAP3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	192075582	192075582	A	C	intergenic	LOC440704,RGS18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LINC-JP|1|394|0.00254	-	-	-,no phenotypic analysis	-,Potential protein deficiency	ICGC,
chr7	61801099	61801099	G	A	intergenic	NONE,ZNF733P	unknown	SNV	-	-	-	0.0128	rs58999867	-	0.053115	-	-	COSN19736733	-	COCA-CN|1|321|0.00312,LAML-KR|1|205|0.00488	-	-	-,-	-,-	COSMIC,ICGC,
chr1	81757519	81757519	A	C	intergenic	NONE,LPHN2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,Schizophrenia	ICGC,
chr4	170163456	170163456	C	T	intronic	SH3RF1	unknown	SNV	-	-	-	0.0005	rs796381842	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-	-	ICGC,
chr3	19081278	19081278	C	T	intergenic	SATB1,KCNH8	unknown	SNV	-	-	-	3.232e-05	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,-	-,-	ICGC,
chr16	85922001	85922001	GG	AA	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr4	188500583	188500583	C	T	ncRNA_intronic	LOC100506272	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chrX	73579595	73579595	G	A	intergenic	ZCCHC13,SLC16A2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,immune system phenotype	Autism spectrum disorder|Potential protein deficiency,Severe neurologic impairment|Putamen lesions & low T4 in cerebrospinal fluid|Monocarboxylate transporter 8 deficiency|Mental retardation, X-linked |Mental retardation|Leucoencephalopathy, X-linked|Juvenile cataract, microcornea and renal glucosuria|Intellectual disability, X-linked|Hypotonia, severe neonatal, and developmental delay|Allan-Herndon-Dudley syndrome	ICGC,
chr1	174912752	174912752	C	T	ncRNA_intronic	LOC101928696	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr5	135697380	135697380	C	G	intronic	TRPC7	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23799132	-	ORCA-IN|1|178|0.00562	-	-	vision/eye phenotype	-	COSMIC,ICGC,
chr17	16852254	16852254	A	G	exonic	TNFRSF13B	synonymous	SNV	-	-	8.123e-06	-	-	-	-	-	-	COSM4932399	-	LIHC-US|1|189|0.00529	-	-	mortality/aging	Tonsillar hypertrophy.|Tonsillar hypertrophy and sarcoidosis.|Tonsillar hypertrophy and sarcoidosis|Intracranial aneurysm |Immunodeficiency, common variable.|Immunodeficiency, common variable |Hypogammaglobulinaemia|Good's syndrome|Good syndrome|Asthma |Antibody deficiency	COSMIC,COSMIC,ICGC,
chr13	67981666	67981666	-	A	intergenic	PCDH9,LINC00550	unknown	insertion	-	-	-	0.0003	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332,MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr7	112112882	112112882	C	T	exonic	IFRD1	nonsynonymous	SNV	0.147	0.141	0.0005	0.0007	rs144614382	0.0005	0.000199681	0.0002	-	COSM1447348	COAD|1|367|0.00272,COADREAD|1|489|0.00204	COAD-US|1|254|0.00394	-	-	growth/size phenotype	Sensorimotor neuropathy with ataxia |Severity in cystic fibrosis, association with	COSMIC,TCGA,ICGC,
chr6	45569627	45569627	G	T	intergenic	RUNX2,CLIC5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	integument phenotype,respiratory system phenotype	Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly|Lack of typical supernumerary teeth, in cleidocranial dysplasia.|Femoral neck-bone mineral density, association with|Craniosynostosis, single-suture|Craniosynostosis|Cleidocranial dysplasia & hypophosphatasia|Cleidocranial dysplasia,-	ICGC,
chr1	1923078	1923078	A	G	intronic	KIAA1751	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Potential protein deficiency	ICGC,
chr19	46460670	46460670	G	A	intronic	NOVA2	unknown	SNV	-	-	-	3.236e-05	-	-	-	-	-	COSN23167226	-	MALY-DE|1|241|0.00415	-	-	mortality/aging	-	COSMIC,ICGC,
chr17	44912067	44912067	G	A	intergenic	WNT3,WNT9B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,mortality/aging	Tetra-amelia,Mayer-Rokitansky-Küster-Hauser syndrome 	ICGC,
chrX	128977309	128977309	G	T	UTR5	ZDHHC9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	Intellectual disability  |Intellectual disability, short stature & microcephaly|Mental retardation, X-linked	ICGC,
chr6	134432464	134432464	-	TATT	intergenic	SLC2A12,HMGA1P7	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr4	1175770	1175770	T	C	intronic	SPON2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	immune system phenotype	-	ICGC,
chrX	78337280	78337280	C	T	intergenic	P2RY10,GPR174	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Graves' disease, increased risk|Graves' disease 	ICGC,
chr4	53636724	53636724	A	G	intergenic	ERVMER34-1,LOC152578	unknown	SNV	-	-	-	0.0045	rs142770901	-	0.0209665	-	0.014	-	-	LAML-KR|1|205|0.00488	-	-	-,-	-,-	ICGC,
chr18	71760507	71760507	-	GG	intronic	FBXO15	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	normal phenotype	-	ICGC,
chr13	85049057	85049057	C	T	ncRNA_intronic	LINC00333	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr20	14559820	14559820	G	A	ncRNA_intronic	MACROD2-IT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-	-	ICGC,
chrX	89886149	89886149	A	C	intergenic	TGIF2LX,PABPC5-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr2	30675114	30675114	C	A	intronic	LCLAT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	behavior/neurological phenotype	-	ICGC,
chr14	80552100	80552100	C	A	intergenic	NRXN3,DIO2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging,digestive/alimentary phenotype	Alcohol dependence, association with|Autism spectrum disorder  ,Symptomatic osteoarthritis, susceptibility to|Reduced serum thyroxine|Insulin resistance, association with|Insulin resistance in type 2 diabetes, association with|Hypertension, increased risk|Graves' disease, association with.|Diabetes, type 2, association with|Diabetes mellitus, type 2, early-onset, association with.|Delayed triiodothyronine secretion, association with|Altered hypothalamus-pituitary-thyroid axis set point, association with|Acute lung injury, sepsis-associated, protection against	ICGC,
chr5	12870412	12870412	T	A	intergenic	LINC01194,DNAH5	unknown	SNV	-	-	-	9.902e-05	-	-	-	-	-	COSN9404698	-	OV-AU|1|93|0.01075	-	-	-,mortality/aging	-,Asthenozoospermia |Autism |Chronic rhinosinusitis and primary ciliary dyskinesia|Potential protein deficiency|Primary ciliary dyskinesia	COSMIC,ICGC,
chr18	64036196	64036196	G	A	intergenic	CDH7,CDH19	unknown	SNV	-	-	-	0.0001	rs749724336	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Tetralogy of Fallot	ICGC,
chr18	56198028	56198028	G	T	intronic	ALPK2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr12	112127439	112127439	C	T	intronic	ACAD10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Intellectual disability  |ACAD10 variant	ICGC,
chr12	80595123	80595123	C	T	intergenic	PPP1R12A,OTOGL	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23999428	-	BRCA-FR|1|72|0.01389	-	-	mortality/aging,-	-,Sensorineural hearing loss  |Deafness  |Autism spectrum disorder	COSMIC,ICGC,
chr6	163433569	163433569	G	A	intronic	PACRG	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25339518	-	MALY-DE|1|241|0.00415	-	-	-	Infertility, male, association with |Leprosy, association with|Parkinson disease, early-onset 	COSMIC,ICGC,
chr14	93170993	93170993	C	T	exonic	LGMN	synonymous	SNV	-	-	0.3665	0.3578	rs9791	0.3563	0.281949	0.3694	0.275	COSM3754173	ACC|2|90|0.02222	COCA-CN|1|321|0.00312,BLCA-CN|1|103|0.00971,LUSC-KR|3|170|0.01765,COAD-US|1|254|0.00394	-	-	hematopoietic system phenotype	-	COSMIC,TCGA,ICGC,
chr15	70174156	70174156	G	A	intergenic	LINC00593,TLE3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,-	ICGC,
chr21	29763594	29763594	G	A	intergenic	LINC00314,LINC00161	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	207657945	207657956	AAAAAAAAAAAA	-	UTR3	FASTKD2	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	-	Cytochrome-c_oxidase_deficiency	-	-	Cytochrome c oxidase deficiency	ClinVar,
chr4	135273534	135273534	C	T	intergenic	PABPC4L,LINC00613	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Autism spectrum disorder  ,-	ICGC,
chr3	172434024	172434024	G	A	intergenic	NCEH1,ECT2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	immune system phenotype,mortality/aging	-,-	ICGC,
chr1	98328276	98328277	CA	-	intronic	DPYD	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LINC-JP|1|394|0.00254	-	-	-	Schizophrenia  |Reduced enzyme activity|Intellectual disability and autism|Intellectual disability  |Increased enzyme activity|Fluoropyrimidine-related toxicity, association with|Dihydropyrimidine dehydrogenase deficiency, partial|Dihydropyrimidine dehydrogenase deficiency|Autism spectrum disorder  	ICGC,
chr1	109692099	109692099	G	C	intronic	KIAA1324	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-	-	ICGC,
chr11	82813334	82813334	-	T	intergenic	RAB30-AS1,PCF11	unknown	insertion	-	-	-	6.488e-05	rs766193057	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-,-	-,-	ICGC,
chr17	33368938	33368938	G	A	ncRNA_intronic	RAD51L3-RFFL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr11	28055439	28055439	G	A	intronic	KIF18A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	Adult height, association with|Schizophrenia	ICGC,
chr5	64102720	64102720	C	A	intronic	CWC27	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	-	-	ICGC,
chr19	53653154	53653154	C	T	intronic	ZNF347	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1218292	-	-	-	-	-	Tetralogy of Fallot	COSMIC,
chr19	17544242	17544242	G	A	intergenic	MVB12A,TMEM221	unknown	SNV	0.031	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-,-	-,-	ICGC,
chr3	165007851	165007851	G	A	intergenic	SLITRK3,BCHE	unknown	SNV	-	-	-	0.0053	rs114521780	-	0.00638978	-	0.014	COSN7832221	-	PACA-AU|1|391|0.00256	-	-	-,mortality/aging	-,Serum cholinesterase deficiency|Potential protein deficiency|Obesity and triglyceride levels, association with|Hypocholinesterasaemia|Fronto-temporal dementia, association with|Cholinesterasaemia|Butyrylcholinesterase variant|Butyrylcholinesterase deficiency|Addiction to crack cocaine, association with|Acholinesterasaemia	COSMIC,ICGC,
chr5	176017693	176017693	G	A	intronic	CDHR2	unknown	SNV	-	-	4.071e-05	-	rs371007055	7.42e-05	0.000199681	7.7e-05	-	-	-	GACA-JP|1|585|0.00171	-	-	-	-	ICGC,
chr2	10120963	10120963	A	G	intronic	GRHL1	unknown	SNV	-	-	-	3.229e-05	-	-	-	-	-	COSN15818466	-	LIRI-JP|1|258|0.00388	-	-	integument phenotype	-	COSMIC,ICGC,
chr2	79973474	79973474	C	T	intronic	CTNNA2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Schizophrenia	ICGC,
chr4	29404650	29404650	T	C	intergenic	MIR4275,PCDH7	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5567778	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr8	87080682	87080682	C	A	intronic	PSKH2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr4	139565170	139565170	G	A	intergenic	LINC00499,CCRN4L	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,growth/size phenotype	-,-	ICGC,
chr5	2484555	2484555	C	A	intergenic	LOC100506858,IRX2	unknown	SNV	-	-	-	0.0559	rs3104225	-	0.0656949	-	0.043	-	-	LAML-KR|1|205|0.00488	-	-	-,normal phenotype	-,-	ICGC,
chr12	81471950	81471950	C	T	exonic	ACSS3	synonymous	SNV	-	-	2.386e-05	-	-	-	-	-	-	-	-	GACA-JP|1|585|0.00171	-	-	-	-	ICGC,
chr10	75591909	75591909	G	A	intronic	CAMK2G	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	reproductive system phenotype	Intellectual disability  	ICGC,
chr5	103763209	103763209	C	T	intergenic	NUDT12,RAB9BP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr9	10400921	10400921	T	G	intronic	PTPRD	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype	Restless legs syndrome, association with|Ewing sarcoma	ICGC,
chr3	25663104	25663104	C	A	intronic	TOP2B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging	-	ICGC,
chr16	66138986	66138986	C	T	intergenic	LINC00922,CDH5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,integument phenotype	-,Autism|Haemorrhagic fever with renal syndrome, reduced severity, association with|Schizophrenia	ICGC,
chr5	40890366	40890366	G	A	intergenic	CARD6,C7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	immune system phenotype,-	-,Haemolytic uraemic syndrome, reduced susceptibility|Complement C7 deficiency	ICGC,
chr19	44918230	44918230	C	T	intergenic	ZNF285,ZNF229	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	97264228	97264228	G	A	intronic	KANSL3	unknown	SNV	-	-	-	0.0173	rs77427837	-	0.0317492	-	0.007	-	-	LAML-KR|1|205|0.00488	-	-	-	-	ICGC,
chr1	183543663	183543663	G	A	exonic	NCF2	nonsynonymous	SNV	0.292	0.053	-	-	-	-	-	-	-	COSM5621353	-	-	-	-	-	Systemic lupus erythematosus, susceptibility to|Systemic lupus erythematosus, increased risk, association with|Inflammatory bowel disease, very early onset, association with|Chronic granulomatous disease	COSMIC,
chr4	168746949	168746949	C	T	intergenic	SPOCK3,ANXA10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr19	29031422	29031422	C	T	ncRNA_intronic	LOC100420587	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr12	79793093	79793093	C	T	intronic	SYT1	unknown	SNV	-	-	-	0.0005	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	-	ICGC,
chr4	142775547	142775547	A	G	intergenic	IL15,INPP4B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25618230	-	MALY-DE|1|241|0.00415	-	-	mortality/aging,hematopoietic system phenotype	-,-	COSMIC,ICGC,
chr10	25479179	25479179	T	C	intronic	GPR158	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-	-	ICGC,
chr8	79231965	79231965	C	A	intergenic	PEX2,PKIA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging,normal phenotype	Zellweger syndrome|Refsum disease, infantile|Peroxisome biogenesis disorder|Cerebellar ataxia, autosomal recessive,-	ICGC,
chr20	56451810	56451810	T	A	intergenic	PMEPA1,MIR4532	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	ICGC,
chr15	52280050	52280050	CC	TT	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr10	105813001	105813001	C	T	intronic	COL17A1	unknown	SNV	-	-	-	0.1506	rs11191909	-	0.136581	-	0.065	-	-	COCA-CN|1|321|0.00312,ESAD-UK|1|301|0.00332,LUSC-KR|1|170|0.00588	-	-	integument phenotype	Ossification of posterior longitudinal ligament, association with|Epidermolysis bullosa, junctional, localised |Epidermolysis bullosa, junctional, late-onset|Epidermolysis bullosa, junctional, generalised|Epidermolysis bullosa, junctional with prurigo-like lesions|Epidermolysis bullosa, junctional|Epidermolysis bullosa, Herlitz|Epidermolysis bullosa, atrophic benign|Epidermolysis bullosa	ICGC,
chr13	32906851	32906851	C	T	exonic	BRCA2	synonymous	SNV	-	-	-	-	rs866473840	-	-	-	-	-	-	-	Hereditary_cancer-predisposing_syndrome|Breast-ovarian_cancer,_familial_2	-	integument phenotype	Ovarian cancer.|Ovarian cancer |Ovarian / peritoneal carcinoma|Oesophageal squamous cell carcinoma|Oesophageal carcinoma  |Oesophageal cancer, association with|Ocular melanoma|Medulloblastoma |Male BC risk|Lung cancer  |Lunc cancer|Liver cancer|Ovarian carcinoma|Ovarian insufficiency, primary |Reactive lymphoid hyperplasia |Prostate cancer.|Prostate cancer, high-grade|Prostate cancer |Promyelocytic leukemia |Primordial dwarfism|Potential protein deficiency|Poorer survival in prostate cancer patients|Peritoneal carcinoma|Pancreatic cancer |Pancreatic adenocarcinoma|Triple-negative breast cancer|Leukemia risk |Breast cancer, association with|Breast cancer risk, association with|Breast cancer in radiographers, decreased risk|Breast cancer |Breast and/or ovarian cancer.|Breast and/or ovarian cancer |Breast and colorectal cancer|Autism|Altered transcription factor binding|Altered splicing  |Altered function|Breast cancer, early-onset|Breast cancer, early-onset.|Breast cancer, male|Intraperitoneal cancer|Fanconi anaemia D1|Fanconi anaemia|Fallopian tube carcinoma|Fallopian tube cancer|Ductal carcinoma in situ|Breast, gastric and lover cancer.|Breast cancer.|Breast cancer, triple-negative|Breast cancer, susceptibility to, association with|Breast cancer, sporadic, protection against	ClinVar,
chr2	77828900	77828900	C	A	intergenic	LRRTM4,LOC101927967	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	ICGC,
chr5	91197756	91197756	G	A	intergenic	ARRDC3-AS1,NR2F1-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr13	94154637	94154637	C	T	intronic	GPC6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Omodysplasia|Pancreatic cancer 	ICGC,
chr4	121650542	121650542	T	-	intronic	PRDM5	unknown	deletion	-	-	-	3.242e-05	rs566162033	-	0.000599042	-	-	-	-	BTCA-SG|1|71|0.01408,BRCA-EU|1|569|0.00176	-	-	skeleton phenotype	Brittle cornea syndrome	ICGC,
chr1	112423003	112423003	G	A	intronic	KCND3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	cardiovascular system phenotype	Sudden unexplained death syndrome|Sudden infant death syndrome|Spinocerebellar ataxia 22|Spinocerebellar ataxia 19|Cardiac arrhythmia|Brugada syndrome.|Brugada syndrome    |Atrial fibrillation, lone, early-onset	ICGC,
chr5	110851520	110851520	G	A	ncRNA_intronic	STARD4-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr6	139978326	139978326	C	T	intergenic	LOC645434,LOC100132735	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr17	70275382	70275382	G	A	intergenic	SOX9,LINC00673	unknown	SNV	-	-	-	3.233e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Female-to-male ovotesticular disorder of sex development|Gonadal dysgenesis |Male-to-female disorder of sex development|Pierre Robin sequence|Pierre Robin sequence & hypoplastic left scapula|Prostate cancer, association with |Robin sequence, hypoplastic scapulae & rib anomalies|XY gonadal dysgenesis|XY sex reversal  |Disorder of sex development without campomelic dysplasia|Campomelic dysplasia with XY reversal|46,XX developmental testicular disorder|46,XX, SRY negative infertility|Acampomelic campomelic dysplasia|Acampomelic campomelic dysplasia with true hermaphroditism|Acampomelic campomelic dysplasia with XY reversal|Altered transcription factor binding|Brachydactyly-anonychia|Campomelic dysplasia|Campomelic dysplasia with small patella syndrome,-	ICGC,
chrX	113216540	113216540	C	T	intergenic	LOC101928437,HTR2C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Tourette syndrome, association with|Tardive dyskinesia, association with|Suicide, association with|Reduced promoter activity|Premature ejaculation, association with|Increased promoter activity, association with|Hallucinations, in Alzheimer disease, association|Greater dopamine release|Alcohol use disorder comorbidity, association with|Anxiety, and Appetite disturbances in females, in Alzheimer disease, association with.|Bipolar affective disorder, association with|BMI, association with|Depression, in Alzheimer disease, association with.|Diabetes, association with	ICGC,
chr15	31763875	31763875	C	G	intergenic	KLF13,OTUD7A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	hematopoietic system phenotype,-	-,-	ICGC,
chrX	82506767	82506767	G	T	intergenic	SH3BGRL,POU3F4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6703727	-	LIRI-JP|1|258|0.00388	-	-	-,integument phenotype	-,X-linked mixed deafness|X-linked deafness|Sensorineural hearing loss  |Mixed hearing loss |Hearing loss, X-linked nonsyndromic|Hearing loss & mental retardation	COSMIC,ICGC,
chr20	47684489	47684489	-	TTT	intronic	CSE1L	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|2|67|0.02985	-	-	mortality/aging	-	ICGC,
chrX	10235366	10235366	T	C	intergenic	CLCN4,MID1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	renal/urinary system phenotype,mortality/aging	Epileptic encephalopathy ,Penoscrotal hypospadias & hypertelorism|Opitz G/BBB syndrome|Intellectual and developmental disabilities|Hypospadias & hypertelorism|Hypospadias|Cardiac malformations|Autism spectrum disorder	ICGC,
chr4	187268139	187268139	G	A	ncRNA_intronic	F11-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr13	81821750	81821750	G	A	intergenic	SPRY2,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Cleft lip ,-	ICGC,
chr2	75521302	75521302	G	A	intergenic	TACR1,EVA1A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	-,-	ICGC,
chr18	75399395	75399395	C	A	intergenic	GALR1,LINC01029	unknown	SNV	-	-	-	0.0529	rs9807163	-	0.0628994	-	0.051	-	-	LAML-KR|1|205|0.00488	-	-	behavior/neurological phenotype,-	Growth hormone insufficiency,-	ICGC,
chr19	23595585	23595585	A	G	intergenic	ZNF91,ZNF675	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr9	28876853	28876853	G	A	intronic	LINGO2	unknown	SNV	-	-	-	0.3882	rs320961	-	0.458466	-	0.051	-	-	LAML-KR|1|205|0.00488	-	-	-	Autism spectrum disorder  |Developmental delay with absent speech	ICGC,
chr15	36263635	36263635	-	TGTGTG	intergenic	MIR4510,C15orf41	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|4|71|0.05634	-	-	-,-	-,Congenital dysorythropoietic anaemia type 1	ICGC,
chr3	94072533	94072533	G	A	intergenic	NSUN3,LINC00879	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr11	120383002	120383002	C	T	intronic	GRIK4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	behavior/neurological phenotype	Modulated hippocampal function, association with|Biopolar disorder, protection, association with	ICGC,
chr10	116292184	116292184	C	T	intronic	ABLIM1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	normal phenotype	Schizophrenia  	ICGC,
chr1	153429344	153429344	G	A	downstream	S100A7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr8	65313367	65313367	C	T	intergenic	MIR124-2HG,LOC401463	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr12	129693975	129693975	C	T	ncRNA_intronic	LOC101927735	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16196636	-	PRAD-CA|1|308|0.00325	-	-	-	-	COSMIC,ICGC,
chr1	243150863	243150868	AAAAAC	-	intergenic	PLD5,LINC01347	unknown	deletion	-	-	-	0	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-,-	-,-	ICGC,
chr9	102338190	102338190	A	C	intergenic	NAMA,LOC101928438	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15126278	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr1	219170348	219170348	C	T	intergenic	TGFB2,LYPLAL1-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Breast cancer, progression, association with|Loeys-Dietz syndrome 4|Thoracic aortic aneurysms and dissections,-	ICGC,
chr11	117568136	117568136	T	-	intronic	DSCAML1	unknown	deletion	-	-	-	3.245e-05	-	-	-	-	-	COSN23111113	-	PACA-CA|2|268|0.00746	-	-	mortality/aging	-	COSMIC,ICGC,
chr6	87136258	87136258	C	T	intergenic	SNHG5,HTR1E	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chrX	26062971	26062971	C	T	intergenic	ARX,MAGEB18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Infantile spasms & intellectual disability|Intellectual disability & dystonia|Intellectual disability, X-linked|Lissencephaly, X-linked, with abnormal genitalia|Mental retardation|Mental retardation and epilepsy|Neurodegeneration   |Neurodegeneration with Ohtahara syndrome and mov disord|Ohtahara syndrome|Ohtahara syndrome with developmental delay|Partington syndrome|Infantile spasm syndrome, X-linked|Generalized dystonia without infantile spasms|ACC, epilepsy, abnormal genitalia|ACC, infantile spasms & abnormal genitalia|ACC, lissencephaly, seizures & genital hypoplasia|ACC, mental retardation, epilepsy & dyskinetic quadriparesis|Asymmetric polymicrogyria & periventricular nodular heterotopia|Autism spectrum disorder|Developmental delay and early hand preference.|Epilepsy, early-onset|Epilepsy, early-onset.|Epileptic encephalopathy, early infantile|Epileptic encephalopathy, early onset,-	ICGC,
chr10	134165291	134165291	C	G	intronic	LRRC27	unknown	SNV	-	-	0.7744	0.7753	rs2261222	0.7737	0.800919	0.7694	0.493	COSN26548810	-	LICA-CN|1|402|0.00249	-	-	-	-	COSMIC,ICGC,
chr3	27685082	27685082	C	T	intergenic	SLC4A7,EOMES	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16307786	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging,mortality/aging	Ovarian cancer ,Altered p53 binding|Microcephaly with polymicrogyria	COSMIC,ICGC,
chr5	128174235	128174235	TT	AA	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr2	237285791	237285791	C	T	exonic	IQCA1	nonsynonymous	SNV	0.019	0.947	-	-	-	-	-	-	-	COSM3579534	SKCM|1|368|0.00272	SKCM-US|1|335|0.00299	-	-	-	-	COSMIC,COSMIC,TCGA,ICGC,
chr5	13727713	13727713	T	A	exonic	DNAH5	nonsynonymous	SNV	0.0	1.0	1.219e-05	-	rs752281220	8.251e-06	-	-	-	COSM6512848	-	-	-	-	mortality/aging	Asthenozoospermia |Autism |Chronic rhinosinusitis and primary ciliary dyskinesia|Potential protein deficiency|Primary ciliary dyskinesia	COSMIC,
chr2	188447784	188447784	C	T	intergenic	TFPI,GULP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Increased plasma TFPI|Lower plasma TFPI|Reduced expression|Thrombophilia, association with,-	ICGC,
chr8	124930079	124930079	T	G	intronic	FER1L6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr18	50209343	50209343	G	T	intronic	DCC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	mortality/aging	Altered p53 transactivation|Colorectal cancer, risk, association with |Mirror movements, congenital	ICGC,
chr5	8826877	8826877	A	T	intergenic	MIR4458HG,LOC101929284	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BOCA-UK|1|130|0.00769	-	-	-,-	-,-	ICGC,
chr2	3881607	3881607	A	G	intronic	DCDC2C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr2	195477110	195477110	C	T	intergenic	LOC101927406,LOC101927431	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	177555130	177555130	G	A	intergenic	SPCS3,VEGFC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Lymphoedema, primary, Milroy-like	ICGC,
chr5	97420999	97420999	T	C	intergenic	LINC01340,RGMB	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2127802	-	LIRI-JP|1|258|0.00388	-	-	-,mortality/aging	-,-	COSMIC,ICGC,
chr3	179716279	179716279	G	T	intronic	PEX5L	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26133906	-	PRAD-UK|1|140|0.00714	-	-	behavior/neurological phenotype	-	COSMIC,ICGC,
chr2	33952905	33952905	C	T	ncRNA_exonic	MYADML	unknown	SNV	-	-	-	-	rs550391494	-	0.000199681	-	-	COSN16131911	CESC|1|194|0.00515	CESC-US|1|194|0.00515	-	-	-	-	COSMIC,TCGA,ICGC,
chr11	123385959	123385959	C	T	intergenic	MIR4493,GRAMD1B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,no phenotypic analysis	-,-	ICGC,
chr1	64342338	64342354	TGTGTGTGTGTGTGTGC	-	intronic	ROR1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging	-	ICGC,
chr1	62742424	62742424	-	TGCACCAGCCTGGTGCT	intronic	KANK4	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr15	99345037	99345037	A	T	intronic	IGF1R	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	integument phenotype	Pacreatic cancer, clinical outcome, association with |Papillary thyroid carcinoma, association with|Psychiatric disorders  |Short stature|Short stature & intrauterine growth retardation|Short stature, association with|Short staure & intrauterine growth retardation|Silver-Russell syndrome |Single suture craniosynostosis |Overgrowth|Lipodystrophy |Left ventricular mass in male athletes, association with|Autoaggressive behaviour|Breast cancer, association with |Growth retardation|Growth retardation & microcephaly|Growth retardation, intrauterine & postnatal|Growth retardation, microcephaly & Silver-Russell syndrome features|Increased longevity|Intrauterine growth retardation, dysmorphic features & insulin resistance|Ischaemic stroke risk	ICGC,
chr3	181221900	181221900	G	C	ncRNA_intronic	SOX2-OT	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9537819	-	OV-AU|1|93|0.01075	-	-	-	-	COSMIC,ICGC,
chr19	385676	385676	A	G	intergenic	THEG,C2CD4C	unknown	SNV	-	-	-	0.0050	rs767495220	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	reproductive system phenotype,-	-,-	ICGC,
chr16	23425652	23425652	A	T	intronic	COG7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Schizophrenia|Congenital disorder of glycosylation|COG subunit defect	ICGC,
chr8	94746533	94746533	G	A	exonic	RBM12B	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM6181769	LUAD|1|543|0.00184	-	-	-	-	-	COSMIC,TCGA,
chr18	22527796	22527796	C	T	intergenic	LOC729950,ZNF521	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,skeleton phenotype	-,-	ICGC,
chr3	112445189	112445189	C	T	intergenic	CCDC80,LOC101929694	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6744750	-	LIRI-JP|1|258|0.00388	-	-	behavior/neurological phenotype,-	-,-	COSMIC,ICGC,
chr6	70539298	70539298	T	C	intergenic	LMBRD1,COL19A1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7895840	-	PACA-AU|1|391|0.00256	-	-	-,integument phenotype	Methylmalonic aciduria & homocystinuria, cblF type,Amyotrophic lateral sclerosis  	COSMIC,ICGC,
chr4	156831947	156831947	A	G	intronic	TDO2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15191181	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype	Autism, association with	COSMIC,ICGC,
chr16	10388628	10388628	C	T	intergenic	GRIN2A,ATF7IP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype,-	Intellectual disability  |Landau-Kleffner syndrome|Landau-Kleffner syndrome, atypical rolandic epilepsy, dysphasia, CSWS syndrome|Landau-Kleffner syndrome, verbal dyspraxia|Landau-Kleffner syndrome/benign epilepsy with centrotemporal spikes/atypical benign partial epilepsy|Mental retardation with abnormal EEG|Partial epilepsy, atypical benign|Rolandic epilepsy |Schizophrenia|Schizophrenia, chronic outcome, association with|Seizure disorders of rolandic region & intellectual disability|Increased hippocampal and amygdala volumes, association with|Epileptic encephalopathy, verbal dyspraxia|Epileptic encephalopathy, benign childhood epilepsy|Alcohol dependence, association with|Atypical rolandic epilepsy, absence epilepsy|Atypical rolandic epilepsy, verbal dyspraxia|Benign epilepsy with centrotemporal spikes|Epilepsy with cognitive impairment|Epilepsy-aphasia syndrome|Epilepsy, childhood-onset|Epileptic encephalopathy|Epileptic encephalopathy, abnormal EEG & developmental delay|Epileptic encephalopathy, atypical rolandic epilepsy, dysphasia|Epileptic encephalopathy, atypical rolandic epilepsy, verbal dyspraxia,-	ICGC,
chr1	65217460	65217460	A	T	intronic	RAVER2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1452092	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr6	127532108	127532108	G	A	intergenic	RSPO3,RNF146	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	-,-	ICGC,
chr8	65883901	65883901	T	A	intergenic	CYP7B1,LINC00251	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25388460	-	MALY-DE|1|241|0.00415	-	-	integument phenotype,-	Spastic paraplegia 5a.|Spastic paraplegia 5a|Spastic paraplegia 5 with sensory ataxia|Spastic paraplegia 5|Spastic paraplegia|Increased transcriptional activity|HIV 1 infection, reduced risk, association with|Cholestasis, severe,-	COSMIC,ICGC,
chr20	56400237	56400237	-	A	intergenic	PMEPA1,MIR4532	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr14	54424370	54424370	T	G	upstream	BMP4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8844987	-	OV-AU|1|93|0.01075	-	-	mortality/aging	Eye and limb malfomations|Frías syndrome|Hypospadias|Microform cleft|Nonsymdromic cleft lip with or without palate, protective effect|Ocular malformation|Orbicularis oris defect|Pituitary hormone deficiency |Renal hypodysplasia|SHORT syndrome|Tooth agenesis  |Ureteropelvic junction obstruction |Cutaneous melanoma, susceptibility to, association with|Corneal opacity and feet polysyndactyly|Anophthalmia  |Anophthalmia & blepharophimosis |Anopthalmia, microphthalmia with sclerocornea & hydrocephalus|Anterior segment anomalies & craniofacial dysmorphism|Bilateral microphthalmia and unilateral cataract|BMP4 variant|Cleft lip and palate|Cleft lip and palate, nonsyndromic|Cleft lip and palate, nonsyndromic, increased risk|Colorectal cancer|Colorectal cancer, increased risk, association with|Congenital abnormalities of the kidney and urinary tract	COSMIC,ICGC,
chr14	42143444	42143444	G	A	intronic	LRFN5	unknown	SNV	-	-	-	0.0004	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-	Short stature|Developmental delay, seizures & learning problems 	ICGC,
chr14	20033766	20033766	C	A	intergenic	POTEM,OR11H2	unknown	SNV	-	-	-	0.1293	rs369687199	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr11	58104051	58104051	G	C	intergenic	OR10W1,OR5B17	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5795441	-	EOPC-DE|1|202|0.00495	-	-	-,-	-,-	COSMIC,ICGC,
chr14	86960810	86960810	G	A	intergenic	LOC101928767,LOC283585	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	ICGC,
chr4	137513326	137513326	A	T	intergenic	LINC00613,PCDH18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Intellectual disability  	ICGC,
chr7	88983992	88983992	A	G	intergenic	ZNF804B,STEAP2-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr7	132049910	132049910	G	A	intronic	PLXNA4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Autism|Parkinson disease  	ICGC,
chr2	225248007	225248007	T	C	intronic	FAM124B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BOCA-UK|1|130|0.00769	-	-	-	-	ICGC,
chr9	18513085	18513085	T	G	intronic	ADAMTSL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	-	-	ICGC,
chr3	159252321	159252321	A	G	intronic	IQCJ-SCHIP1,SCHIP1	unknown	SNV	-	-	-	0.0417	rs74468528	-	0.0289537	-	0.014	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,-	ICGC,
chr5	164701115	164701115	A	C	intergenic	LOC102546299,CTB-7E3.1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7907803	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	COSMIC,ICGC,
chr4	40434	40434	T	C	intergenic	NONE,ZNF595	unknown	SNV	-	-	-	0.0044	rs9942256	-	-	-	0.022	-	-	LAML-KR|1|205|0.00488,PRAD-CA|1|308|0.00325	-	-	-,-	-,-	ICGC,
chr10	83835960	83835960	T	A	intronic	NRG3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24924150	-	LICA-FR|1|252|0.00397	-	-	integument phenotype	Schizophrenia, association with |Increased ventrolateral PFC activation|Hirschsprung disease  	COSMIC,ICGC,
chr4	9623554	9623554	C	T	intergenic	MIR548I2,DRD5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,vision/eye phenotype	-,Schizophrenia  |Receptor variant|Receptor deficiency	ICGC,
chr14	40206313	40206313	T	A	intergenic	FBXO33,LOC644919	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24779905	-	ESAD-UK|1|301|0.00332,GACA-CN|1|123|0.00813	-	-	-,-	-,-	COSMIC,ICGC,
chr13	33627946	33627946	C	T	exonic	KL	nonsynonymous	SNV	0.131	0.432	-	-	-	-	-	-	-	COSM5376662	-	-	-	-	integument phenotype	Tumoural calcinosis|Priapism in sickle cell anaemia, association with|Metabolic syndrome, association with|Kidney stones, increased risk|Ischemic stroke, early onset, association with|Hypophosphataemic rickets and hyperparathyroidism|Essential hypertension, association with|Early dysfunction in vascular access in haemodialysis, association|Coronary artery disease, association with|Breast / ovarian cancer, increased risk, association with|Age-related phenotypes, association with	COSMIC,
chr20	36909256	36909256	C	T	ncRNA_intronic	LOC149684	unknown	SNV	-	-	-	6.454e-05	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr8	137698237	137698237	G	C	intergenic	KHDRBS3,FAM135B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-UK|1|140|0.00714	-	-	-,-	-,-	ICGC,
chr10	11885895	11885895	-	T	intronic	PROSER2	unknown	insertion	-	-	-	0.0130	-	-	-	-	-	COSN27540199	-	-	-	-	-	-	COSMIC,
chr15	91510418	91510418	C	A	exonic	PRC1	nonsynonymous	SNV	0.062	0.686	-	-	-	-	-	-	-	COSM4758755	-	-	-	-	-	-	COSMIC,
chr4	107927072	107927072	C	A	intronic	DKK2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	hematopoietic system phenotype	Schizophrenia, association with  	ICGC,
chr19	33733395	33733395	G	A	intergenic	SLC7A10,CEBPA	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21263066	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging,integument phenotype	Cystinuria ,Acute myeloid leukaemia	COSMIC,ICGC,
chr4	165810922	165810922	A	-	intronic	APELA	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr14	40047753	40047753	C	T	intergenic	FBXO33,LOC644919	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr11	129786779	129786779	A	G	intronic	PRDM10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-	-	ICGC,
chr1	179167083	179167083	C	T	intronic	ABL2	unknown	SNV	-	-	-	3.297e-05	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	mortality/aging	-	ICGC,
chr5	99237191	99237191	C	A	intergenic	CTD-2151A2.1,LOC100133050	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-,-	-,-	ICGC,
chr2	232625896	232625896	T	C	intronic	PDE6D	unknown	SNV	-	-	-	0.2487	rs838449	-	0.20627	-	0.370	-	-	ESAD-UK|1|301|0.00332	-	-	-	Joubert syndrome	ICGC,
chr17	59118187	59118187	A	T	exonic	BCAS3	nonsynonymous	SNV	0.118	0.001	-	-	-	-	-	-	-	COSM6236127	-	LICA-CN|1|402|0.00249	-	-	-	-	COSMIC,COSMIC,ICGC,
chr2	222877033	222877033	C	T	intergenic	EPHA4,PAX3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	reproductive system phenotype,integument phenotype	Amyotrophic lateral sclerosis, reduced disease severity,Waardenburg syndrome type I|Waardenburg syndrome III|Waardenburg syndrome I.|Waardenburg syndrome I|Waardenburg syndrome|Spina bifida  |Reduced transcription|Hearing loss, syndromic|Craniofacial-deafness-hand syndrome	ICGC,
chr16	25282170	25282170	A	T	intergenic	ZKSCAN2,HS3ST4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr10	57923021	57923021	G	A	intergenic	MTRNR2L5,ZWINT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PEME-CA|1|112|0.00893	-	-	-,-	-,-	ICGC,
chr18	52565224	52565224	G	A	intergenic	RAB27B,CCDC68	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	integument phenotype,-	-,-	ICGC,
chrX	113042863	113042863	C	T	intergenic	LOC101928437,HTR2C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Tourette syndrome, association with|Tardive dyskinesia, association with|Suicide, association with|Reduced promoter activity|Premature ejaculation, association with|Increased promoter activity, association with|Hallucinations, in Alzheimer disease, association|Greater dopamine release|Alcohol use disorder comorbidity, association with|Anxiety, and Appetite disturbances in females, in Alzheimer disease, association with.|Bipolar affective disorder, association with|BMI, association with|Depression, in Alzheimer disease, association with.|Diabetes, association with	ICGC,
chr11	57561545	57561545	G	T	exonic	CTNND1	stopgain	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	integument phenotype	Autism	ICGC,
chr11	113463381	113463381	G	T	intergenic	DRD2,TMPRSS5	unknown	SNV	-	-	-	0.1151	-	-	-	-	-	COSN20293991	-	LUSC-KR|1|170|0.00588	-	-	integument phenotype,-	Prefronto-striatal phenotypes in schizophrenia, association|Prefronto-striatal phenotypes in schizophrenia, association with|Reduced emotional stability, association with|Reduced Freud-1 binding activity|Schizophrenia, association with|Schizophrenia, association with.|Schizophrenia, lower risk, association with|Schizophrenia, modifier, association with|Wilson disease, association with|Neuroleptic malignant syndrome |Myoclonus dystonia||Alcohol dependence, association with|Alcoholism, association with |Altered receptor affinity in vivo, association with|Cocaine abuse, association with|Fear learning, association |Impaired inhibition of intracellular cAMP|Increased expression, association with|Methamphetamine psychosis, rapid onset, association with,Deafness	COSMIC,ICGC,
chrX	121690506	121690506	G	A	intergenic	GLUD2,GRIA3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	Parkinson disease, earlier onset, association with,Mental retardation, X-linked|Intellectual disability, X-linked with facial dysmorphism|Intellectual disability, X-linked|Autism spectrum disorder	ICGC,
chr1	58404201	58404201	C	T	intronic	DAB1	unknown	SNV	-	-	-	9.701e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Syndromic cleft lip & palate	ICGC,
chr7	29822233	29822233	T	C	intergenic	DPY19L2P3,WIPF3	unknown	SNV	-	-	-	0.0811	rs75092348	-	0.0672923	-	0.072	-	-	ESAD-UK|1|301|0.00332	-	-	-,reproductive system phenotype	-,-	ICGC,
chr1	115238115	115238115	A	G	exonic	AMPD1	nonsynonymous	SNV	0.013	-	-	-	-	-	-	-	-	-	-	GACA-JP|1|585|0.00171	-	-	-	Hypercholesterolaemia ?|Hypercholesterolaemia|Features of metabolic syndrome in coronary artery disease, association with|Adenosine monophosphate deaminase deficiency	ICGC,
chr5	3073532	3073532	C	T	intergenic	C5orf38,LINC01377	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	ICGC,
chr8	62169274	62169274	A	G	intergenic	LOC100130298,CLVS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20170871	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	COSMIC,ICGC,
chr10	49782673	49782673	G	A	intronic	ARHGAP22	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr7	91763565	91763565	G	T	exonic	CYP51A1	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM6296419	-	LICA-CN|1|402|0.00249	-	-	mortality/aging	Paediatric cataract |Preterm birth 	COSMIC,ICGC,
chr9	3048309	3048309	A	G	intergenic	KIAA0020,LINC01231	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	ICGC,
chr5	169657798	169657798	A	C	intergenic	LINC01187,C5orf58	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr10	100633738	100633738	T	A	intronic	HPSE2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6475043	-	LICA-FR|1|252|0.00397	-	-	-	Urofacial syndrome	COSMIC,ICGC,
chr2	42865287	42865287	-	T	intronic	MTA3	unknown	insertion	-	-	-	0.0003	rs534596013	-	0.00319489	-	-	-	-	PRAD-UK|1|140|0.00714	-	-	immune system phenotype	Li-Fraumeni syndrome with brain tumours	ICGC,
chr13	104347545	104347545	C	T	intergenic	MIR548AS,DAOA-AS1	unknown	SNV	-	-	-	0.0003	rs192213977	-	0.000199681	-	-	COSN21527977	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr13	22212546	22212546	G	A	intergenic	MICU2,FGF9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Multiple synostoses syndrome|Gonadal dysgenesis, association with	ICGC,
chr11	8472267	8472267	A	T	intronic	STK33	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-	Potential protein deficiency	ICGC,
chr9	4153867	4153867	T	C	intronic	GLIS3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Diabetes, permanent neonatal|Diabetes, type 1, resistance to|Neonatal diabetes & congenital hypothyroidism|Neural tube defects	ICGC,
chr3	55971585	55971585	T	C	intronic	ERC2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	vision/eye phenotype	-	ICGC,
chr11	43225361	43225361	G	A	intergenic	LOC100507205,HNRNPKP3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8280074	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	COSMIC,COSMIC,ICGC,
chr8	52376937	52376937	A	T	intronic	PXDNL	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16514795	-	PACA-AU|1|391|0.00256	-	-	-	-	COSMIC,COSMIC,ICGC,
chr5	119050816	119050816	C	T	intergenic	FAM170A,PRR16	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|2|183|0.01093	-	-	-,-	-,-	ICGC,
chr7	16050274	16050274	G	A	intergenic	MEOX2-AS1,ISPD	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|2|100|0.02000	-	-	-,-	-,Walker-Warburg syndrome / muscle-eye-brain disease|Walker-Warburg syndrome|Muscular dystrophy, limb girdle with mental retardation|Muscular dystrophy, limb girdle with cerebellar involvement|Muscular dystrophy, limb girdle|Muscular dystrophy, congenital|Muscle-eye-brain disease|Cobblestone lissencephaly	ICGC,
chr10	42898162	42898162	G	A	intergenic	LOC441666,CCNYL2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	155592961	155592961	G	A	intergenic	KIF4B,SGCD	unknown	SNV	-	-	-	0.0002	rs776991853	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,Muscular dystrophy, limb girdle 2F|Muscular dystrophy, limb girdle 2 |Muscular dystrophy, limb girdle|Cardiomyopathy, dilated|Anorectal malformation	ICGC,
chr11	103332223	103332223	A	G	intronic	DYNC2H1	unknown	SNV	-	-	-	3.233e-05	-	-	-	-	-	COSN8729107	-	OV-AU|1|93|0.01075	-	-	mortality/aging	Short rib-polydactyly syndrome, type 3|Short rib-polydactyly syndrome, Majewski type|Short rib-polydactyly syndrome|Asphyxiating thoracic dystrophy	COSMIC,ICGC,
chr5	79587756	79587756	T	C	intergenic	SERINC5,LOC644936	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr2	174488626	174488626	C	A	intergenic	CDCA7,SP3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,integument phenotype	Schizophrenia,-	ICGC,
chr5	20435291	20435291	T	G	intronic	CDH18	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8383510	-	MALY-DE|1|241|0.00415	-	-	-	Anorectal malformation	COSMIC,ICGC,
chr3	168424458	168424458	G	-	ncRNA_intronic	EGFEM1P	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	-	ICGC,
chr5	17843864	17843864	G	A	intergenic	LOC401177,CDH18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Anorectal malformation	ICGC,
chr20	42459344	42459344	G	A	intergenic	GTSF1L,TOX2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr4	168312428	168312428	C	T	intergenic	SPOCK3,ANXA10	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8373798	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	COSMIC,ICGC,
chr20	59499888	59499888	A	G	intergenic	MIR4533,LOC100506470	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr8	55077897	55077897	T	A	intergenic	MRPL15,SOX17	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,Congenital anomalies of the kidney and urinary tract|Stroke, association with	ICGC,
chr18	12096230	12096230	G	A	exonic	ANKRD62	synonymous	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|2|100|0.02000,MELA-AU|2|183|0.01093	-	-	-	-	ICGC,
chr1	210848806	210848806	-	T	UTR3	HHAT	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|4|71|0.05634	-	-	mortality/aging	-	ICGC,
chr10	8115943	8115943	T	-	exonic	GATA3	frameshift	deletion	-	-	-	-	-	-	-	-	-	-	BRCA|1|982|0.00102	-	-	-	integument phenotype	Sensorineural hearing loss, facial dysmorphism & delayed psychomotor development|Hypoparathyroidism, deafness and renal dysplasia|Hypoparathyroidism and deafness|Acute lymphoblastic leukaemia, association with 	TCGA,
chr2	3172690	3172690	G	A	intergenic	LINC01250,TSSC1	unknown	SNV	-	-	-	4.937e-05	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr13	42036137	42036137	G	A	intronic	RGCC	unknown	SNV	-	-	-	3.227e-05	-	-	-	-	-	-	-	BOCA-UK|1|130|0.00769	-	-	-	-	ICGC,
chr10	82635774	82635774	C	T	intergenic	SH2D4B,NRG3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Schizophrenia, association with |Increased ventrolateral PFC activation|Hirschsprung disease  	ICGC,
chr5	16163332	16163332	C	T	intronic	MARCH11	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr2	81106586	81106586	A	G	intergenic	CTNNA2,LOC100507201	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25357719	-	MALY-DE|1|241|0.00415	-	-	mortality/aging,-	Schizophrenia,-	COSMIC,ICGC,
chr20	38460616	38460616	G	A	intergenic	LOC339568,LINC01370	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr4	67081340	67081340	C	T	intergenic	EPHA5-AS1,LOC101927237	unknown	SNV	-	-	-	9.7e-05	-	-	-	-	-	COSN26788702	-	PRAD-FR|1|25|0.04000	-	-	-,-	-,-	COSMIC,ICGC,
chr2	235455127	235455134	TCGTGTGT	-	intergenic	ARL4C,SH3BP4	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,Peripheral neuropathy  	ICGC,
chr3	83339595	83339595	G	A	intergenic	GBE1,LINC00971	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493,MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Potential protein deficiency|Polyglucosan body disease, relapsing-remitting form|Polyglucosan body disease, adult|Lethal multiple pterygium syndrome|Glycogen storage disease 4, non-lethal neuromuscular|Glycogen storage disease 4, neonatal|Glycogen storage disease 4|Autism spectrum disorder|Adult polyglucosan body disease,-	ICGC,
chr2	185007841	185007841	G	A	intergenic	NUP35,ZNF804A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Neurodevelopmental disease|Reduced cortical gray matter thickness|Schizophrenia and bipolar disorder, association with|Schizophrenia, association with  	ICGC,
chr2	118408054	118408054	G	A	intergenic	DPP10,DDX18	unknown	SNV	-	-	-	0	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	Autism spectrum disorder,-	ICGC,
chr12	86883347	86883347	T	A	intronic	MGAT4C	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20325578	-	PAEN-AU|1|52|0.01923	-	-	-	Prostate cancer, increased risk |Mental retardation	COSMIC,ICGC,
chr6	140361070	140361070	G	C	ncRNA_intronic	LOC100507477	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	-	ICGC,
chr18	60131630	60131630	C	T	intergenic	TNFRSF11A,ZCCHC2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Paget disease of bone, association with|Osteopetrosis, RANK-dependent, autosomal recessive|Osteopetrosis, autosomal recessive|Familial Paget disease of bone|Familial expansile osteolysis|Expansile skeletal hyperphosphatasia,-	ICGC,
chr7	77424752	77424752	C	A	intronic	TMEM60	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20755661	-	BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr4	34916609	34916609	A	T	intergenic	NONE,ARAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	15304358	15304358	G	C	ncRNA_intronic	SH3BP5-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	-	ICGC,
chr14	54307414	54307414	C	T	intergenic	LOC101927620,MIR5580	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr5	107143856	107143856	C	G	intergenic	EFNA5,FBXL17	unknown	SNV	-	-	-	0.5134	rs6596750	-	0.377396	-	0.377	COSN6582826	-	SKCA-BR|1|100|0.01000,PBCA-DE|1|499|0.00200	-	-	mortality/aging,-	-,-	COSMIC,COSMIC,ICGC,
chrY	4480896	4480896	-	A	intergenic	TGIF2LY,PCDH11Y	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr3	74513787	74513787	A	-	intronic	CNTN3	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176,LIRI-JP|1|258|0.00388	-	-	-	-	ICGC,
chr8	79947247	79947247	T	A	intergenic	IL7,STMN2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	hematopoietic system phenotype,-	Increased expression,-	ICGC,
chr7	78894177	78894177	G	C	intronic	MAGI2	unknown	SNV	-	-	-	0	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312,MALY-DE|1|241|0.00415	-	-	mortality/aging	Seizures|Schizophrenia|Myoclonic epilepsy |Infantile spasms in Williams-Beuren syndrome|Infantile spasms|Developmental delay & microcephaly|Developmental delay  |Developmental and/or speech and/or behavioural problems	ICGC,
chr20	22396947	22396947	G	A	ncRNA_intronic	LOC284788	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-	-	ICGC,
chr16	87835777	87835777	C	T	intergenic	LOC102724467,SLC7A5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Phenylketonuria modifier 	ICGC,
chr16	80475524	80475524	C	T	ncRNA_intronic	LOC102724084	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr13	55320733	55320733	C	T	intergenic	MIR1297,MIR5007	unknown	SNV	-	-	-	3.245e-05	rs760223381	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	ICGC,
chr4	17148293	17148293	G	A	intergenic	LDB2,QDPR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	normal phenotype,skeleton phenotype	-,Dihydropteridine reductase deficiency|Phenylketonuria	ICGC,
chr4	156339324	156339324	G	A	intergenic	MAP9,GUCY1A3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20623494	-	BRCA-EU|1|569|0.00176	-	-	-,mortality/aging	-,Myocardial infarction, increased risk |Achalasia & moyamoya	COSMIC,ICGC,
chr16	25242546	25242548	CAG	-	intergenic	AQP8,ZKSCAN2	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	reproductive system phenotype,-	-,-	ICGC,
chr2	52455646	52455646	T	G	intergenic	NRXN1,ASB3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	Hypotonia|Hypotonia & encephalopathy|Increased white matter volume, association with|Intellectual disability  |Intellectual disability & attention deficit hyperactivity disorder|Intellectual disability & hearing loss|Intellectual disability & pervasive developmental disorder|Intellectual disability and autism|Intellectual disability, nonsyndromic |Intellectual disability, seizures, dysmorphisms & language delay|Growth retardation  |Epilepsy, myoclonic seizures & speech delay|Developmental disorder|Developmental disorder & attention deficit hyperactivity disorder|Developmental disorder, seizures & attention deficit hyperactivity disorder|Developmental/intellectual disability, hypotonia & dysmorphic features|Disorder of muscle, ligament & fascia|Encephalopathy  |Epilepsy  |Epilepsy with cognitive impairment / autism spectrum disorder|Epilepsy with focal seizures|Epilepsy, generalised |Intellectual disability, seizures, language delay & hypotonia|Language delay|Learning difficulties|Respiratory distress & sepsis|Respiratory distress syndrome|Schizophrenia |Schizophrenia, childhood onset |Schizophrenia, disorganised type|Seizures, generalized tonic-clonic & attention deficit hyperactivity disorder|Sensory integration disorder & attention deficit hyperactivity disorder|Speech delay & social communication difficulties|Tourette syndrome|Pervasive developmental disorder / hypotonia|Pervasive developmental disorder|Pervasive developmental delay / mental retardation, lack of coordination & hearing loss|Learning difficulties, ADHD & autism|Mental retardation|Mental retardation, autism, vertebral malformations|Mental retardation, Pitt-Hopkins-like|Microcephaly & mental retardation|Multiple congenital anomalies  |Multiple disabilities|Myoclonic epilepsy   |Neurodevelopmental disorder  |Vertebral anomalies|Developmental delay, speech delay & social communication difficulties|Attention deficit hyperactivity disorder |Autism spectrum disorder, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability & language delay|Autism spectrum disorder, intellectual disability, dysmorphisms, developmental delay & language delay|Autism spectrum disorder, intellectual disability, seizures & developmental delay|Autism spectrum disorder, intellectual disability, seizures, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability, seizures, dysmorphisms & language delay|Autism spectrum disorder, seizures, developmental delay & language delay|Autism, intellectual disability & attention deficit hyperactivity disorder|Autistic disorder|Autism spectrum disorder with developmental & speech delay|Autism spectrum disorder & seizures|Autism spectrum disorder & language delay|Autism |Autism & learning difficulties|Autism & mental retardation|Autism & seizures|Autism spectrum disorder|Autism spectrum disorder & attention deficit hyperactivity disorder|Autism spectrum disorder & developmental delay|Autism spectrum disorder & dysmorphic features|Autism spectrum disorder & intellectual disability|Behavioural problems|Congenital heart defect  |Craniofacial dysmorphism|Developmental delay & speech/motor delay|Developmental delay with early-onset epilepsy|Developmental delay, dysmorphic features & short stature|Developmental delay, epilepsy, autism|Developmental delay, language delay & hypotonia|Developmental delay, learning difficulties, ADHD|Developmental delay, microcephaly & behavioural problems|Developmental delay, pulmonic stenosis & autism spectrum disorder|Developmental delay, short stature and diaphragmatic hernia|Developmental delay, speech delay & microcephaly|Developmental delay & seizures|Developmental delay & seizure disorder|Cystic hygroma, hydrops & micrognathia|Cystic hygroma, shortened upper limbs & fetal demise|Developmental & speech delay|Developmental delay|Developmental delay / autism|Developmental delay & autism|Developmental delay & dysmorphic features|Developmental delay & epilepsy|Developmental delay & hypotonia|Developmental delay & multiple congenital anomalies,-	ICGC,
chr10	66676174	66676174	G	A	intergenic	ANXA2P3,LOC101928913	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr14	28566391	28566391	G	C	intergenic	LINC00645,FOXG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BOCA-UK|1|130|0.00769	-	-	-,integument phenotype	-,West syndrome |Rett-like syndrome|Rett syndrome|Refractory epilepsy & intellectual impairment|Microcephaly, mental retardation & thin genu of corpus callosum|Mental retardation, speech impairment & epilepsy|Mental retardation & speech impairment|Mental retardation & postnatal microcephaly|Mental retardation & callosum abnormalities|Mental retardation|Infantile spasms|Hemifacial microsomia|Generalized dystonia, athetosis and parkinsonism|Developmental delay, microcephaly & hypoplasia of the corpus callosum|Developmental delay, hypotonia, microcephaly & infantile spasms|Developmental delay & slow head growth|Agenesis of corpus callosum	ICGC,
chr2	184537737	184537737	G	T	intergenic	NUP35,ZNF804A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,Neurodevelopmental disease|Reduced cortical gray matter thickness|Schizophrenia and bipolar disorder, association with|Schizophrenia, association with  	ICGC,
chr7	82329854	82329854	C	T	intergenic	CACNA2D1,PCLO	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,mortality/aging	Short QT syndrome|Schizophrenia  |Histiocytoid cardiomyopathy|Epileptic encephalopathy  |Brugada syndrome    ,Bipolar disorder, association with 	ICGC,
chr2	201157661	201157661	C	T	intergenic	C2orf47,SPATS2L	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9303798	-	OV-AU|1|93|0.01075	-	-	-,-	-,-	COSMIC,ICGC,
chr8	4901746	4901746	G	A	intergenic	CSMD1,LOC100287015	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21610015	-	BRCA-EU|1|569|0.00176	-	-	-,-	Schizophrenia, association with |Hyperinsulinism|Autism|Attention deficit hyperactivity disorder ,-	COSMIC,ICGC,
chr20	6029643	6029643	G	A	intronic	LRRN4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	behavior/neurological phenotype	-	ICGC,
chr18	55136322	55136322	G	A	intronic	ONECUT2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	endocrine/exocrine gland phenotype	-	ICGC,
chr16	21154657	21154657	T	C	intronic	DNAH3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-	-	ICGC,
chr4	81459915	81459915	G	A	intronic	C4orf22	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN10035833	-	RECA-EU|1|422|0.00237	-	-	-	-	COSMIC,ICGC,
chr3	113714886	113714889	GATA	-	intronic	KIAA1407	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr13	88822634	88822634	A	G	intergenic	LINC00397,LINC00433	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24973421	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	COSMIC,ICGC,
chr16	8700731	8700731	G	A	intergenic	TMEM114,METTL22	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	Developmental delay|Cataract, congenital,-	ICGC,
chrX	75783005	75783005	T	A	intergenic	MAGEE1,LOC101928469	unknown	SNV	-	-	-	4.627e-05	-	-	-	-	-	COSN21155613	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr22	23230018	23230018	T	A	UTR5	IGLL5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25306175	-	MALY-DE|1|241|0.00415	-	-	-	-	COSMIC,ICGC,
chr17	53786886	53786886	G	A	intergenic	MMD,TMEM100	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,-	ICGC,
chr20	2141797	2141797	C	T	intergenic	STK35,LOC388780	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	ICGC,
chr9	121648832	121648832	A	G	intergenic	TLR4,BRINP1	unknown	SNV	-	-	-	0.2550	rs4837586	-	0.292931	-	0.304	COSN20541530	-	COCA-CN|1|321|0.00312,SKCA-BR|1|100|0.01000	-	-	integument phenotype,-	Phenotypic variation in haemochromatosis, association with|Periodontitis, association with|Pancreatic necrotic infection, association with|Negative association with FMF|Nasopharyngeal cancer, increased risk, association with|Moraxella catarrhalis infection, increased risk, association with|Metabolic syndrome, association with|Meningococcal disease susceptibility|Meningococcal disease mortality|Lung function, association with|Lower left ventricular mass, in hypertensive women, association|Increased risk of cirrhosis in chronic hepatitis C ?|Increased liver and body fat, association with|Potential protein deficiency|Preterm birth and premature rupture of membranes, association with|Tuberculosis susceptibility, in HIV-infected patients, association|Serious infection, in HIV-1 patients, association with|Retinitis pigmentosa |Reduced LPS-induced IL-12 secretion, association with|Reduced expression|Pulmonary tuberculosis, susceptibility and severity, association|Pulmonary tuberculosis, severity, association with|Protection from urinary tract infection, association with|Protection against being overweight|Prostate cancer, increased risk|Prostate cancer risk, association with|Primary open-angle, normal-tension, and exfoliation glaucoma, association with.|Typhoid infection, increased risk, association with|Increased IL-4 secretion response to measles vaccination, association|Cutaneous leishmaniasis, association with|Crohn's disease, association with|Colorectal cancer, association with.|Colorectal cancer risk, association with|Cervical cancer, early stage, association with|Cancer, increased risk, association with|Bronchopulmonary Dysplasia, infant, association with|Breast cancer, association with.|Behcet disease, protection against, association with|Altered monocyte receptor levels|Acute pyelonephritis, reduced risk in adults, association with|Acute pyelonephritis, in children, association with|Diabetes, type 2, protection against, association with|Digestive system cancer, increased risk & prostate cancer, protection against, association with|Emphysema, association with|Increased expression|Helicobacter pylori-related gastric atrophy, association with|HBV recurrence after liver transplantation, association with|Guillain-Barré syndrome, association with|Guillain-Barré syndrome, AMAN sub-type, association with|Gastritis, association with|Gastric carcinoma, association with|Endometriosis, association with|Endotoxin hyporesponsiveness, association with|Extra-intestinal manifestations in Crohn's disease, association with.|Gastric adenocarcinoma, association with|Gastric cancer, association with,-	COSMIC,ICGC,
chr13	87068467	87068467	C	T	intergenic	SLITRK6,MIR4500HG	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,-	High myopia and sensorineural deafness,-	ICGC,
chr13	51323214	51323214	C	T	intronic	DLEU7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Chronic lymphocytic leukaemia  	ICGC,
chr2	29691258	29691258	T	C	intronic	ALK	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Medulloblastoma |Neuroblastoma	ICGC,
chr11	113071985	113071985	G	T	intronic	NCAM1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26569468	-	LICA-CN|1|402|0.00249	-	-	mortality/aging	Neural tube defects, risk, association with	COSMIC,ICGC,
chr3	165117932	165117932	C	T	intergenic	SLITRK3,BCHE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,mortality/aging	-,Serum cholinesterase deficiency|Potential protein deficiency|Obesity and triglyceride levels, association with|Hypocholinesterasaemia|Fronto-temporal dementia, association with|Cholinesterasaemia|Butyrylcholinesterase variant|Butyrylcholinesterase deficiency|Addiction to crack cocaine, association with|Acholinesterasaemia	ICGC,
chr18	7355691	7355691	G	T	intergenic	LRRC30,PTPRM	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,cardiovascular system phenotype	-,Potential protein deficiency	ICGC,
chr17	52365701	52365701	C	T	intergenic	KIF2B,TOM1L1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr14	107066210	107066210	G	A	intergenic	LINC00221,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr2	158319371	158319371	G	A	intergenic	CYTIP,ACVR1C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype,mortality/aging	-,Glaucoma, primary congenital	ICGC,
chr18	70654514	70654514	A	G	intergenic	NETO1,LOC400655	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	behavior/neurological phenotype,-	-,-	ICGC,
chr13	32263242	32263242	G	T	intergenic	B3GALTL,RXFP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,integument phenotype	Peters-Plus syndrome,Cryptorchidism 	ICGC,
chr20	36498986	36498986	C	T	intronic	CTNNBL1	unknown	SNV	-	-	-	3.231e-05	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr18	25801521	25801521	A	C	intergenic	CDH2,MIR302F	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24814151	-	GACA-CN|1|123|0.00813	-	-	mortality/aging,-	Reduced expression|Potential protein deficiency|Alzheimer disease  ,-	COSMIC,ICGC,
chr11	16446225	16446225	G	A	intronic	SOX6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging	Craniosynostosis |Developmental delay and spinal syrinx	ICGC,
chr7	3670732	3670732	A	C	intronic	SDK1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17614831	-	ESAD-UK|1|301|0.00332	-	-	-	-	COSMIC,ICGC,
chr1	240040708	240040708	C	T	intronic	CHRM3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	vision/eye phenotype	Autistic disorder|Bladder malformation|Diabetes, type 2, increased risk, association |Tetralogy of Fallot	ICGC,
chr6	55594492	55594492	C	T	intergenic	HMGCLL1,BMP5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,Microtia |Osteoarthritis, susceptibility, association with	ICGC,
chr3	26100228	26100228	G	A	intergenic	LINC00692,LRRC3B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,nervous system phenotype	-,-	ICGC,
chr16	35199858	35199858	C	A	intergenic	FLJ26245,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	222253748	222253748	C	T	intergenic	MIR4268,EPHA4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,reproductive system phenotype	-,Amyotrophic lateral sclerosis, reduced disease severity	ICGC,
chr3	141308454	141308454	G	T	intronic	RASA2	unknown	SNV	-	-	-	0.2494	rs4334619	-	0.173722	-	0.210	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr22	35126125	35126125	G	A	intergenic	LARGE,ISX	unknown	SNV	-	-	-	0.0001	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	mortality/aging,no phenotypic analysis	Alpha-dystroglycanopathy |Autism, non-complex|Fukushima congenital muscular dystrophy|Muscular dystrophy, congenital 1D|Walker-Warburg syndrome|Walker-Warburg syndrome.,-	ICGC,
chr11	23701604	23701604	C	G	intergenic	MIR8054,LUZP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,normal phenotype	-,Anorectal malformation	ICGC,
chr15	23193156	23193156	G	A	ncRNA_intronic	WHAMMP3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr13	103886659	103886659	G	A	intergenic	SLC10A2,MIR548AS	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	digestive/alimentary phenotype,-	Bile acid malabsorption, primary|Colorectal adenoma, increased risk, association with|Hypertriglyceridaemia |Impaired taurocholate transport|Potential protein deficiency,-	ICGC,
chr11	38096868	38096868	C	T	intergenic	C11orf74,LOC103312105	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr11	42291982	42291982	C	T	intergenic	LOC100507205,HNRNPKP3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408,MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr12	47180591	47180591	G	A	intronic	SLC38A4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr14	38099566	38099566	T	G	intergenic	FOXA1,SSTR1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25072363	-	MALY-DE|1|241|0.00415	-	-	integument phenotype,vision/eye phenotype	Impaired glucose homeostasis ,-	COSMIC,ICGC,
chr8	70670231	70670231	G	A	intronic	SLCO5A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-	-	ICGC,
chr9	33218923	33218923	A	G	intergenic	B4GALT1-AS1,SPINK4	unknown	SNV	-	-	-	0.2415	rs7040952	-	0.284145	-	0.138	-	-	LAML-KR|1|205|0.00488	-	-	-,-	-,-	ICGC,
chr8	111735286	111735286	G	A	intergenic	KCNV1,CSMD3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,-	-,Schizophrenia  |Colorectal cancer 	ICGC,
chr21	41033329	41033329	C	T	exonic	B3GALT5	synonymous	SNV	-	-	5.014e-06	3.231e-05	rs767783605	9.171e-06	-	-	-	COSM3912120	SKCM|2|368|0.00543	SKCM-US|1|335|0.00299	-	-	normal phenotype	-	COSMIC,COSMIC,TCGA,ICGC,
chr6	114833503	114833503	T	C	intergenic	HS3ST5,FRK	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BOCA-UK|1|130|0.00769	-	-	-,homeostasis/metabolism phenotype	-,Potential protein deficiency	ICGC,
chr19	14372271	14372271	C	T	intergenic	LPHN1,CD97	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN14664950	-	PAEN-AU|1|52|0.01923	-	-	behavior/neurological phenotype,mortality/aging	-,-	COSMIC,ICGC,
chr18	27109263	27109263	G	T	intergenic	CDH2,MIR302F	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19590105	-	-	-	-	mortality/aging,-	Reduced expression|Potential protein deficiency|Alzheimer disease  ,-	COSMIC,
chr2	233999394	233999394	A	G	intronic	INPP5D	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7239912	-	PACA-AU|1|391|0.00256	-	-	integument phenotype	-	COSMIC,ICGC,
chr2	168684920	168684920	G	A	intronic	B3GALT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr7	148776940	148776940	C	T	intronic	ZNF786	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5097800	-	LINC-JP|1|394|0.00254	-	-	-	-	COSMIC,ICGC,
chr15	26398299	26398299	G	A	intergenic	LINC00929,GABRB3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	CMDI-UK|1|136|0.00735	-	-	-,mortality/aging	-,Neurological deficits of Angelman syndrome|Mesial temporal lobe epilepsy with depression, association with|Increased promoter activity|Epilepsy, childhood absence, association with|Chronic insomnia |Autism, association with |Autism spectrum disorder|Anorectal malformation	ICGC,
chr8	119770265	119770265	G	A	intergenic	SAMD12-AS1,TNFRSF11B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Travellers diarrhea, association with|Spine bone mineral density, reduced, in postmenopausal women, association with|Periodontitis, association with|Paget disease, juvenile|Paget disease|Osteoporotic fractures, association with|Ischemic stroke, association with|Increased lumbar spine BMD in adolescent idiopathic scoliosis, association with|Altered splicing  |Bone mineral density in men, association with|Coronary artery disease, association with|Decreased bone mineral density, association |Increased intima-media thickness, association	ICGC,
chr6	48119439	48119439	-	A	intergenic	PTCHD4,MUT	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	-,mortality/aging	-,Methylmalonic aciduria	ICGC,
chr18	75610818	75610818	G	C	intergenic	GALR1,LINC01029	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5183336	-	BRCA-UK|1|141|0.00709,BRCA-EU|1|569|0.00176	-	-	behavior/neurological phenotype,-	Growth hormone insufficiency,-	COSMIC,COSMIC,ICGC,
chr2	214701514	214701514	T	A	intronic	SPAG16	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	reproductive system phenotype	Instability of central apparatus proteins	ICGC,
chr10	74721410	74721410	C	T	intergenic	PLA2G12B,P4HA1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	homeostasis/metabolism phenotype,integument phenotype	-,-	ICGC,
chr6	33148107	33148107	G	A	exonic	COL11A2	synonymous	SNV	-	-	0.0002	3.231e-05	rs549704545	9.599e-05	0.000199681	-	-	-	-	-	Fibrochondrogenesis|Otospondylomegaepiphyseal_dysplasia|Weissenbacher-Zweymuller_syndrome|not_specified|Nonsyndromic_Hearing_Loss,_Dominant|Stickler_Syndrome,_Dominant	-	skeleton phenotype	Otospondylomegaepiphyseal dysplasia|Robin sequence|Sensorineural hearing loss, nonsyndromic  |Stickler syndrome II|Stickler syndrome, without eye involvement|Weissenbacher-Zweymuller syndrome|Osteochondrodysplasia|Osteoarthritis, early-onset|Deafness  |Deafness, autosomal dominant 13|Fibrochondrogenesis|Micrognathia|Non-syndromic hearing loss, autosomal recessive|Ossification, protection against, association with	ClinVar,
chr8	35666142	35666142	C	G	intergenic	UNC5D,KCNU1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9633139	-	OV-AU|1|93|0.01075	-	-	-,reproductive system phenotype	-,Schizophrenia  	COSMIC,ICGC,
chr2	164328000	164328000	G	A	intergenic	KCNH7,FIGN	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	-,-	ICGC,
chr4	155533713	155533713	G	C	exonic	FGG	nonsynonymous	SNV	0.021	0.314	4.069e-05	-	rs760142840	2.489e-05	-	-	-	COSM4584868	-	-	-	-	mortality/aging	Menorrhagia|Hypofibrinogenaemia with hepatic storage|Hypofibrinogenaemia|Hypodysfibrinogenaemia|Fibrinogen variant|Epistaxis, recurrent|Dysfibrinogenaemia|Deep venous thrombosis, increased risk, association with|Afibrinogenaemia / hypofibrinogenaemia|Afibrinogenaemia	COSMIC,
chr18	22987026	22987026	C	G	intergenic	ZNF521,SS18	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1204289	-	LINC-JP|1|394|0.00254	-	-	skeleton phenotype,mortality/aging	-,-	COSMIC,COSMIC,ICGC,
chr13	65920704	65920704	C	T	intergenic	OR7E156P,PCDH9	unknown	SNV	-	-	-	9.702e-05	rs575826130	-	-	-	-	COSN19607596	-	-	-	-	-,-	-,-	COSMIC,
chr15	74400450	74400450	G	A	intergenic	GOLGA6A,LOC283731	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-,-	-,-	ICGC,
chr14	25631583	25631586	TTCA	-	intergenic	STXBP6,NOVA1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	PACA-AU|1|391|0.00256	-	-	-,mortality/aging	-,-	ICGC,
chr13	37381812	37381812	G	A	intergenic	SERTM1,RFXAP	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,Immunodeficiency|Bare lymphocyte syndrome, complementation group D|Bare lymphocyte syndrome	ICGC,
chr2	77679794	77679794	T	-	intronic	LRRTM4	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr1	240501675	240501675	T	C	intronic	FMN2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	reproductive system phenotype	Intellectual disability, non-syndromic|Mental retardation & short stature	ICGC,
chr3	1973844	1973844	G	T	intergenic	CNTN6,CNTN4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	behavior/neurological phenotype,nervous system phenotype	Intellectual disability  ,Spinocerebellar ataxia 16 |Features of 3p deletion syndrome|Autism spectrum disorder |Autism	ICGC,
chr1	41926509	41926509	A	T	intergenic	FOXO6,EDN2	unknown	SNV	-	-	-	0.0081	rs563631007	-	0.00479233	-	-	COSN24480566	-	EOPC-DE|1|202|0.00495,GACA-CN|1|123|0.00813,PACA-CA|1|268|0.00373	-	-	-,no phenotypic analysis	-,Hypertension, severity, association with |Altered p53 binding	COSMIC,ICGC,
chr19	36210355	36210355	C	T	intronic	KMT2B	unknown	SNV	-	-	0.0125	0.0033	rs138399600	0.0097	0.0115815	8.2e-05	-	-	-	-	not_provided	-	-	-	ClinVar,
chr3	124669914	124669914	A	G	intergenic	MUC13,HEG1	unknown	SNV	-	-	-	-	rs367844926	-	-	-	-	COSN14847521	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	Ulcerative colitis, association with,-	COSMIC,ICGC,
chr5	162520651	162520651	T	C	intergenic	GABRG2,CCNG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,mortality/aging	Seizures, generalized tonic-clonic|Myoclonic epilepsy of infancy |Generalized epilepsy with febrile seizures plus|Febrile seizures|Epilepsy, susceptibility to|Epilepsy, idiopathic generalised  |Epilepsy, childhood absence with febrile seizures|Dravet syndrome,-	ICGC,
chr2	91644606	91644606	G	C	intergenic	NONE,LOC654342	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr2	122871671	122871671	C	A	intergenic	TSN,CNTNAP5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17204726	-	PACA-CA|1|268|0.00373	-	-	hematopoietic system phenotype,-	-,Autism	COSMIC,ICGC,
chr6	145113126	145113126	C	T	intronic	UTRN	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Arthrogryposis |Schizophrenia	ICGC,
chr20	16617046	16617046	C	T	intergenic	KIF16B,SNRPB2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	-,-	ICGC,
chr7	155157238	155157238	C	T	ncRNA_intronic	BLACE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr2	142642314	142642314	C	T	intronic	LRP1B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Schizophrenia   	ICGC,
chr16	60183137	60183137	C	T	intergenic	LOC101927580,LOC729159	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	ICGC,
chr4	74923984	74923984	C	T	intergenic	PPBPP2,CXCL2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr12	55243017	55243017	G	A	intergenic	DCD,MUCL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr15	83700910	83700910	C	T	intronic	BTBD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	-	-	ICGC,
chr14	42362807	42362807	G	A	intronic	LRFN5	unknown	SNV	-	-	-	3.233e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Short stature|Developmental delay, seizures & learning problems 	ICGC,
chr12	62422042	62422042	G	A	intronic	FAM19A2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr11	39072229	39072229	-	A	intergenic	LOC101928536,LRRC4C	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	ICGC,
chr8	85341303	85341303	G	A	intronic	RALYL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr20	30427785	30427785	G	A	intergenic	MYLK2,FOXS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	muscle phenotype,reproductive system phenotype	Cardiomyopathy, hypertrophic,-	ICGC,
chr14	86284252	86284252	A	G	intergenic	FLRT2,LOC101928767	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5392266	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging,-	-,-	COSMIC,COSMIC,ICGC,
chr2	8487585	8487585	G	A	intergenic	LINC00299,LOC101929567	unknown	SNV	-	-	-	3.228e-05	-	-	-	-	-	COSN22026101	-	BRCA-EU|1|569|0.00176,MELA-AU|1|183|0.00546	-	-	-,-	Developmental delay  ,-	COSMIC,ICGC,
chr3	96274891	96274891	G	T	intergenic	MIR8060,EPHA6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,behavior/neurological phenotype	-,Alzheimer disease  	ICGC,
chr16	73509025	73509025	C	T	intergenic	LOC100506172,LOC101928035	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr19	24398835	24398835	G	T	intergenic	HAVCR1P1,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	ICGC,
chr13	88020248	88020248	G	T	intergenic	SLITRK6,MIR4500HG	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6236831	-	LIRI-JP|1|258|0.00388	-	-	behavior/neurological phenotype,-	High myopia and sensorineural deafness,-	COSMIC,ICGC,
chr21	33057969	33057969	C	T	exonic	SCAF4	synonymous	SNV	-	-	8.159e-06	-	rs752639758	8.366e-06	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-	-	ICGC,
chr14	23869947	23869947	G	A	exonic	MYH6	synonymous	SNV	-	-	8.121e-06	-	rs368609214	-	-	-	-	-	-	-	Familial_hypertrophic_cardiomyopathy_14	-	mortality/aging	Sick sinus syndrome, increased risk, association with|Potential protein deficiency|Congenital heart defects|Cardiomyopathy, hypertrophic|Cardiomyopathy, dilated |Cardiac dysrhythmia|Atrial septal defect|Atrial fibrillation	ClinVar,
chrX	139643132	139643132	C	T	intergenic	SOX3,LINC00632	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,-	XX male sex reversal with growth retardation & microcephaly|XX male sex reversal with genital abnormalities|XX male sex reversal|Potential protein deficiency|Pituitary hormone deficiency, combined|Mental retardation with growth hormone deficiency|Hypopituitarism|Hypoparathyroidism|Hypertrichosis, congenital generalised |Hyperphagia & developmental delay,-	ICGC,
chr4	61339826	61339826	C	T	intergenic	NONE,LPHN3	unknown	SNV	-	-	-	6.564e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,behavior/neurological phenotype	-,-	ICGC,
chr1	82095361	82095361	-	CGTG	intergenic	NONE,LPHN2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,mortality/aging	-,Schizophrenia	ICGC,
chr3	57368851	57368851	T	A	exonic	DNAH12	unknown	SNV	0.005	0.191	-	-	-	-	-	-	-	COSM5798259	-	BRCA-UK|1|141|0.00709,BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr15	49150671	49150671	G	T	intronic	SHC4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr5	3464676	3464676	G	A	ncRNA_intronic	LINC01019	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr11	27093659	27093659	G	A	intronic	BBOX1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr5	129537163	129537163	T	A	intergenic	CHSY3,HINT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,cellular phenotype	-,Axonal neuropathy with neuromyotonia	ICGC,
chr19	50204843	50204843	G	T	exonic	CPT1C	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM6313012	-	LICA-CN|2|402|0.00498	-	-	behavior/neurological phenotype	-	COSMIC,ICGC,
chr14	44734033	44734033	T	A	intergenic	NONE,FSCB	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9614217	-	RECA-EU|1|422|0.00237	-	-	-,-	-,Tourette syndrome 	COSMIC,ICGC,
chr5	18248097	18248097	T	-	intergenic	LOC401177,CDH18	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	RECA-EU|1|422|0.00237	-	-	-,-	-,Anorectal malformation	ICGC,
chr8	83341789	83341789	C	T	intergenic	SNX16,LINC01419	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr6	23625446	23625446	-	ATATATATAT	intergenic	HDGFL1,NRSN1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr11	51488574	51488574	G	-	intergenic	OR4A5,OR4C46	unknown	deletion	-	-	-	0.0017	rs553956437	-	0.00139776	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr15	69809054	69809054	T	A	intergenic	RPLP1,LOC145837	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23526730	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr5	64188557	64188557	C	T	intronic	CWC27	unknown	SNV	-	-	-	3.244e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr3	71898134	71898134	C	T	intergenic	PROK2,LINC00877	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	nervous system phenotype,-	Anosmia, isolated congenital|GnRH deficiency |Hypogonadotropic hypogonadism|Kallmann syndrome,-	ICGC,
chr5	63571182	63571182	C	T	intronic	RNF180	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chrX	98639451	98639451	G	A	intergenic	DIAPH2,XRCC6P5	unknown	SNV	-	-	-	0.0001	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	cardiovascular system phenotype,-	Premature ovarian failure,-	ICGC,
chr4	116952335	116952335	T	C	intergenic	NDST4,MIR1973	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6792530	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr11	134773840	134773840	C	T	intergenic	LOC283177,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr14	30051398	30051398	G	A	ncRNA_intronic	MIR548AI	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24606453	-	GACA-CN|1|123|0.00813	-	-	-	-	COSMIC,ICGC,
chr4	183868491	183868491	C	T	intergenic	DCTD,FAM92A1P2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Reduced activity,-	ICGC,
chr4	97763851	97763851	A	G	intergenic	PDHA2,STPG2-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-,-	-,-	ICGC,
chr9	96551437	96551437	T	A	intergenic	PHF2,MIR4291	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1383107	-	LINC-JP|1|394|0.00254	-	-	-,-	Autism,-	COSMIC,ICGC,
chr1	11809420	11809420	T	A	intronic	AGTRAP	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19249158	-	CLLE-ES|1|510|0.00196	-	-	cardiovascular system phenotype	-	COSMIC,ICGC,
chr5	29993245	29993245	A	T	intergenic	LOC101929681,CDH6	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23514378	-	ESAD-UK|1|301|0.00332	-	-	-,renal/urinary system phenotype	-,-	COSMIC,ICGC,
chr6	144107568	144107568	C	G	intronic	PHACTR2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15886389	-	PACA-CA|1|268|0.00373	-	-	-	-	COSMIC,ICGC,
chr5	145322088	145322088	GG	AA	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr17	28531961	28531961	G	A	intronic	SLC6A4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Personality traits, association with|Personality disorder, association with |Parkinson disease, association with|Panic disorder, association with  |Obsessive-compulsive disorder, susceptibility, association|Obsessive-compulsive disorder, association with|Neonatal temperament, association with|Myocardial infarction, association with|Potential protein deficiency|Psychosis, in Alzheimer disease, association with.|Pulmonary arterial hypertension, association with|Unipolar disorder, association with|Tourette syndrome, association with|Temporal lobe epilepsy, association with|Suicide attempt, increased risk in schizophrenic males, association with|Sudden infant/intrauterine death syndrome, association with|Sudden infant death syndrome, association with|Schizophrenia, association with.|Reduced uptake activity|Migraine association|MAPK nonresponsiveness|Major depressive disorder, association with|Bipolar disorder, association with|Autism, association with|Attention deficit hyperactivity disorder, reduced severity, association with.|Attention deficit hyperactivity disorder, association with.|ASD symptoms, with maternal smoking during pregnancy, association with|Anxiety related traits, association with|Anxiety and depression, association with|Aggressive periodontitis, association with|Depressive symptoms under psychological stress, association with|Dopaminergic sensitivity, in alcoholics, association with|Drinking intensity in alcoholics, association with|Irritable bowel syndrome, association with.|Irritable bowel syndrome, association with|Insomnia, association with|Increased transporter activity|Increased rigid-compulsive behaviour in autism, association with|Increased expression|Enhanced 5-HT transport activity|Eating disorders, association with	ICGC,
chr1	111560720	111560720	G	A	intergenic	LRIF1,DRAM2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr15	87751717	87751717	T	C	intergenic	AGBL1,LINC00052	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	OV-AU|1|93|0.01075	-	-	-,-	Fuchs corneal dystrophy, late-onset ,-	ICGC,
chr7	1332703	1332703	C	T	intergenic	UNCX,MICALL2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	-,-	ICGC,
chrX	92315417	92315417	T	G	intergenic	PCDH11X,NAP1L3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	Absent speech, intellectual disability & behavioural problems|Attention deficit hyperactivity disorder & obsessive compulsive disorder|Developmental dyslexia |Language delay, nonsyndromic ,-	ICGC,
chr5	100516053	100516053	G	A	intergenic	ST8SIA4,SLCO4C1	unknown	SNV	-	-	-	3.232e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	-,-	ICGC,
chr10	129613614	129613614	A	G	intergenic	FOXI2,CLRN3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-,-	-,-	ICGC,
chr4	2245806	2245806	G	C	intergenic	HAUS3,MXD4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN18865172	-	PBCA-US|1|186|0.00538	-	-	mortality/aging,-	-,-	COSMIC,ICGC,
chr1	3005794	3005794	G	A	intronic	PRDM16	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	1p36 deletion syndrome associated cardiomyopathy|Cardiomyopathy, dilated|Left ventricular noncompaction  	ICGC,
chr12	73561233	73561233	T	A	ncRNA_intronic	LOC101928137	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr9	21670288	21670288	A	C	intergenic	MIR31HG,MTAP	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,mortality/aging	-,Sensorineural hearing loss	ICGC,
chr2	176448442	176448442	C	T	intergenic	ATP5G3,KIAA1715	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,mortality/aging	-,-	ICGC,
chr8	100300553	100300553	C	T	intronic	VPS13B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7660818	-	PACA-CA|1|268|0.00373	-	-	-	Neutropaenia with retinopathy|Intellectual disability  |Cohen syndrome, cutis verticis gyrata & sensorineural deafness|Cohen syndrome|Autism spectrum disorder|Autism	COSMIC,COSMIC,COSMIC,ICGC,
chr6	85937022	85937022	T	A	intergenic	TBX18,NT5E	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9810862	-	OV-AU|1|93|0.01075	-	-	integument phenotype,hematopoietic system phenotype	Autism,Arterial & joint calcifications, symptomatic	COSMIC,ICGC,
chr10	95992099	95992099	C	G	intronic	PLCE1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	cardiovascular system phenotype	Respiratory-chain complex IV (COX) deficiency|Oesophageal squamous cell carcinoma, reduced risk  |Oesophageal squamous cell carcinoma, association with|Nephrotic syndrome, steroid resistant?|Nephrotic syndrome 3, early onset|Nephrotic syndrome|Mesangial proliferation|Glomerulosclerosis, focal segmental|Gastric adenocarcinoma, increased risk|Gastric adenocarcinoma and oesophageal SCC, association with|Diffuse mesangial sclerosis	ICGC,
chr2	174554139	174554139	C	T	intergenic	CDCA7,SP3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,integument phenotype	Schizophrenia,-	ICGC,
chr10	110758147	110758147	T	A	intergenic	SORCS1,RNU6-53P	unknown	SNV	-	-	-	0.1186	rs72829998	-	0.0585064	-	0.058	-	-	ESAD-UK|1|301|0.00332	-	-	other phenotype,-	Autism ,-	ICGC,
chr8	16002653	16002653	C	T	intronic	MSR1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Prostate cancer, association with|Prostate cancer|Chronic obstructive pulmonary disease, in smokers, association with|Barrett oesophagus/oesophageal adenocarcinoma|Atherosclerosis, increased risk, association with	ICGC,
chr11	93354389	93354389	A	G	intergenic	SMCO4,KIAA1731	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr13	105923216	105923216	C	T	intergenic	MIR548AS,DAOA-AS1	unknown	SNV	-	-	-	9.691e-05	rs769892303	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	ICGC,
chr5	116781212	116781212	A	G	ncRNA_intronic	LINC00992	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2505281	-	-	-	-	-	-	COSMIC,
chr15	90048140	90048140	G	A	downstream	LINC00928	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr13	78177261	78177261	A	C	exonic	SCEL	nonsynonymous	SNV	0.003	0.705	-	-	-	-	-	-	-	COSM297623	COAD|1|367|0.00272,COADREAD|1|489|0.00204	COAD-US|1|254|0.00394	-	-	normal phenotype	-	COSMIC,TCGA,ICGC,
chr19	854150	854150	T	G	intronic	ELANE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging	Phenotype modifier |Neutropaenia, severe congenital|Neutropaenia, cyclic|Neutropaenia, congenital|Neutropaenia|Myocardial infarction|G-CSF refractory severe congenital neutropaenia|Cyclic neutropaenia and severe congenital neutropaenia|Sick cell disease & congenital neutropaenia	ICGC,
chr8	18982225	18982225	A	G	intergenic	PSD3,LOC100128993	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15526079	-	OV-AU|1|93|0.01075	-	-	-,-	-,-	COSMIC,COSMIC,COSMIC,ICGC,
chr19	55172303	55172303	G	A	intergenic	MIR8061,LILRB4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr21	14847004	14847004	G	A	intergenic	MIR3156-3,LOC102724188	unknown	SNV	-	-	-	-	rs531007438	-	0.000599042	-	-	-	-	MELA-AU|3|183|0.01639	-	-	-,-	-,-	ICGC,
chr7	55843600	55843600	G	A	intergenic	FKBP9P1,SEPT14	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6887039	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr15	72105928	72105928	A	-	exonic	NR2E3	frameshift	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|5|67|0.07463	-	-	vision/eye phenotype	Schizophrenia  |Retinitis pigmentosa, autosomal recessive|Retinitis pigmentosa, autosomal dominant|Retinitis pigmentosa|Helicoid subretinal fibrosis|Goldmann-Favre syndrome|Enhanced S cone syndrome, association with|Enhanced S cone syndrome|Cone-rod dystrophy	ICGC,
chr13	112282706	112282706	G	A	intergenic	TEX29,LINC00354	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr10	90045522	90045522	G	A	intronic	RNLS	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	cardiovascular system phenotype	Paediatric cataract |Essential hypertension in Han Chinese, association with|Cardiac hypertrophy, dysfunction & ischemia, association with	ICGC,
chr2	79879763	79879763	A	G	intronic	CTNNA2	unknown	SNV	-	-	-	0.0005	rs772487341	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging	Schizophrenia	ICGC,
chrX	131100861	131100861	A	T	intergenic	FIRRE,MST4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7506551	-	-	-	-	-,-	-,-	COSMIC,
chr13	70959714	70959714	T	C	intergenic	ATXN8OS,LINC00348	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9469772	-	RECA-EU|1|422|0.00237	-	-	behavior/neurological phenotype,-	Huntington disease  |Spinocerebellar ataxia 8,-	COSMIC,ICGC,
chr19	39704831	39704831	C	T	intergenic	SYCN,IFNL3	unknown	SNV	-	-	-	6.486e-05	rs749327413	-	-	-	-	COSN14637706	-	PACA-CA|1|268|0.00373	-	-	immune system phenotype,-	-,Altered transcriptional activity|Hepatitis C clearance, association with	COSMIC,COSMIC,ICGC,
chr10	37841775	37841775	G	A	intergenic	LINC00993,MTRNR2L7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr20	38739302	38739302	G	T	intergenic	LINC01370,MAFB	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24696546	-	GACA-CN|1|123|0.00813	-	-	-,mortality/aging	-,Multicentric carpotarsal osteolysis|Intellectual and developmental disabilities|Cleft lip  	COSMIC,ICGC,
chr8	36876871	36876871	A	T	intergenic	KCNU1,LOC100507420	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	reproductive system phenotype,-	Schizophrenia  ,-	ICGC,
chr8	84139616	84139616	G	A	intergenic	SNX16,LINC01419	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr7	19072904	19072904	T	A	intergenic	HDAC9,TWIST1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging,mortality/aging	Peters' anomaly |Immunodeficiency, common variable, association with  ,Synostotic frontal plagiocephaly|Saethre-Chotzen-like syndrome, intellectual disability & autism|Saethre-Chotzen-like syndrome|Saethre-Chotzen syndrome & hyper IgE syndrome|Saethre-Chotzen syndrome & hand-foot-uterus syndrome|Saethre-Chotzen syndrome|Robinow-Sorauf syndrome|Plagiocephaly |Microcephaly, facial dysmorphism and short stature|Craniosynostosis.|Craniosynostosis|Brachicephaly |Baller-Gerold syndrome	ICGC,
chr5	2101347	2101347	G	A	intergenic	MIR548BA,LOC100506858	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr15	63424991	63424991	G	A	intronic	LACTB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-	-	ICGC,
chr7	36407096	36407096	T	C	intronic	KIAA0895	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19199804	-	CLLE-ES|1|510|0.00196	-	-	-	-	COSMIC,ICGC,
chr5	49594470	49594470	G	A	intergenic	NONE,EMB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	493321	493321	A	C	intergenic	CHL1,LINC01266	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	behavior/neurological phenotype,-	Tetralogy of Fallot|Schizophrenia, association with|Potential protein deficiency|Mental retardation & microcephaly |Mental retardation|Learning difficulties, microcephaly and growth retardation|Intellectual disability and epilepsy,-	ICGC,
chr17	50881627	50881627	A	G	intergenic	CA10,C17orf112	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Schizophrenia,-	ICGC,
chr10	31516117	31516117	T	C	intergenic	ZNF438,ZEB1-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr7	44680916	44680916	C	T	intronic	OGDH	unknown	SNV	-	-	-	3.319e-05	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr3	190732063	190732063	A	C	intergenic	SNAR-I,OSTN	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26907762	-	UTCA-FR|1|20|0.05000	-	-	-,-	-,-	COSMIC,COSMIC,ICGC,
chr1	88444026	88444026	C	T	intergenic	LINC01364,PKN2-AS1	unknown	SNV	-	-	-	3.232e-05	-	-	-	-	-	COSN8513088	-	OV-AU|1|93|0.01075	-	-	-,-	-,-	COSMIC,ICGC,
chr10	57025289	57025289	G	A	intergenic	PCDH15,MTRNR2L5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	vision/eye phenotype,-	Usher syndrome II|Usher syndrome 1f|Usher syndrome 1|Lipid levels in hyperlipidaemia, association with|Hearing loss, non-syndromic|Deafness, non-syndromic, autosomal recessive|Deafness, non-syndromic |Deafness  ,-	ICGC,
chr10	18995040	18995040	C	T	intergenic	ARL5B,MALRD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Altered expression,-	ICGC,
chr9	22609126	22609126	G	A	intergenic	DMRTA1,LINC01239	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	taste/olfaction phenotype,-	-,-	ICGC,
chr1	109370673	109370673	A	T	intronic	AKNAD1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5352627	-	RECA-EU|1|422|0.00237,LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr8	66069735	66069735	G	A	intergenic	CYP7B1,LINC00251	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype,-	Spastic paraplegia 5a.|Spastic paraplegia 5a|Spastic paraplegia 5 with sensory ataxia|Spastic paraplegia 5|Spastic paraplegia|Increased transcriptional activity|HIV 1 infection, reduced risk, association with|Cholestasis, severe,-	ICGC,
chr9	90265945	90265945	T	-	intronic	DAPK1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	cellular phenotype	Alzheimer disease, late onset, association with|Chronic lymphocytic leukaemia  |Inactivation of ERK-induced apoptosis, association	ICGC,
chr5	40210342	40210342	G	T	intergenic	LINC00603,PTGER4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,integument phenotype	-,Crohn's disease, association with 	ICGC,
chr1	191838929	191838929	G	C	intergenic	LOC440704,RGS18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,no phenotypic analysis	-,Potential protein deficiency	ICGC,
chr5	7945854	7945854	A	G	intergenic	MTRR,LOC729506	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	growth/size phenotype,-	Increased serum methylmalonic acid levels, association with|Methionine synthase reductase deficiency|Pancreatic cancer, increased risk, association with|Spina bifida, increased risk in offspring, association|Temporomandibular disorder, association with|Homocystinuria.|Homocystinuria, cblE type|Altered activity|Colon cancer, sporadic, reduced risk|Coronary artery disease, association with|Coronary heart disease, increased risk, association with  |Homocystinuria,-	ICGC,
chr17	12217811	12217811	G	A	intergenic	MAP2K4,LINC00670	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Acute myeloid leukaemia, reduced risk, association with|Cervical cancer, reduced risk, association with.|Colorectal cancer, reduced risk, association with|Prostate cancer, decreased risk,-	ICGC,
chrX	26378234	26378234	T	C	intergenic	MAGEB5,VENTXP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PEME-CA|1|112|0.00893	-	-	-,-	-,-	ICGC,
chr7	79479392	79479392	T	C	intergenic	MIR548M,GNAI1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26752317	-	PRAD-FR|1|25|0.04000	-	-	-,immune system phenotype	-,-	COSMIC,ICGC,
chr3	143441051	143441051	C	T	intronic	SLC9A9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Attention deficit hyperactivity disorder|Autism |Autism spectrum disorder  	ICGC,
chr1	78308228	78308228	T	-	intronic	FAM73A	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373,LIRI-JP|1|258|0.00388	-	-	-	-	ICGC,
chrX	103222014	103222014	-	ATTT	ncRNA_intronic	MIR1256	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	-	ICGC,
chr11	50537149	50537149	G	A	intergenic	LOC646813,OR4A5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	20685527	20685527	C	G	intergenic	CDH18,GUSBP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	Anorectal malformation,-	ICGC,
chr7	2588506	2588506	G	A	intronic	BRAT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Lethal neonatal rigidity & seizure syndrome	ICGC,
chr2	195010729	195010729	G	A	intergenic	PCGEM1,LOC101927406	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr11	119858220	119858220	T	C	intergenic	LOC102724301,TRIM29	unknown	SNV	-	-	-	0.0009	rs141017960	-	0.00119808	-	0.007	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr12	57849952	57849952	G	A	exonic	INHBE	nonsynonymous	SNV	0.21	0.999	8.123e-06	-	-	-	-	-	-	-	PRAD|1|499|0.00200	-	-	-	normal phenotype	-	TCGA,
chr5	83603514	83603514	G	T	intronic	EDIL3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	immune system phenotype	Schizophrenia  	ICGC,
chr3	89740092	89740092	C	T	intergenic	EPHA3,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Oligozoospermia|Schizophrenia    |Sertoli-cell-only syndrome,-	ICGC,
chr9	18895828	18895828	C	T	intronic	ADAMTSL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-	-	ICGC,
chr2	183736717	183736717	C	-	intergenic	FRZB,NCKAP1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,mortality/aging	Hip osteoarthritis, association with|Colorectal cancer|Atrioventricular septal defect, Down-syndrome-associated,Autism |Potential protein deficiency	ICGC,
chr17	42132029	42132029	A	C	intronic	LSM12	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr4	189556532	189556532	C	T	intergenic	LINC01060,LINC01262	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20965396	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr6	163273375	163273375	G	A	intronic	PACRG	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Infertility, male, association with |Leprosy, association with|Parkinson disease, early-onset 	ICGC,
chr12	100518713	100518713	-	TATA	intronic	UHRF1BP1L	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	-	-	ICGC,
chr4	163730730	163730730	G	T	intergenic	FSTL5,NAF1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	Schizophrenia  |Rolandic epilepsy ,-	ICGC,
chr4	32983362	32983362	T	G	intergenic	PCDH7,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr2	221238382	221238382	A	G	intergenic	MIR4268,EPHA4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,reproductive system phenotype	-,Amyotrophic lateral sclerosis, reduced disease severity	ICGC,
chr17	34262930	34262930	G	A	intronic	LYZL6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr7	62413357	62413357	T	-	intergenic	NONE,ZNF733P	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr8	86447410	86447410	T	C	intergenic	CA2,REXO1L2P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging,-	Carbonic anhydrase deficiency,-	ICGC,
chr13	108591020	108591020	G	A	intergenic	FAM155A,LIG4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,Reduced risk of multiple myeloma, association|Radiation pneumonitis, association with|Potential protein deficiency|ncreased genotoxicity, in lead exposure, association with.|Lung cancer, increased risk, association with |LIG4 syndrome|LIG4 deficiency with dysmaturity, primordial dwarfism and neurological abnormalities|Immunodeficiency, severe combined, atypical|Immunodeficiency, severe combined|Glioma, increased risk, association with|Dubowitz syndrome	ICGC,
chr8	32699349	32699349	-	TTTG	intergenic	NRG1,FUT10	unknown	insertion	-	-	-	0.0002	rs563486666	-	0.000798722	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	integument phenotype,-	Sudden cardiac death, association with|Schizophrenia, association with  |Schizophrenia in African Americans, association with|Prepulse inhibition, association with|Perceptual aberration of schizotypal personality, association with|Increased lateral ventricle volume in schizophrenia|Hirschsprung disease|Developmental delay, hypotonia & microcephaly|Alzheimers disease, association with,-	ICGC,
chr19	46026040	46026040	G	T	exonic	VASP	nonsynonymous	SNV	0.002	0.993	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	mortality/aging	-	ICGC,
chr1	158072622	158072622	G	C	intergenic	KIRREL,LOC646268	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging,-	-,-	ICGC,
chr2	211756267	211756267	A	C	intergenic	CPS1,ERBB4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,integument phenotype	VACTERL |Neonatal pulmonary hypertension, association with|Necrotizing enterocolitis, in preterm infants, association with|Hyperammonaemia, association with|Carbamoyl phosphate synthetase I deficiency|Altered Nitric oxide production and vascular smooth muscle reactivity|Altered glycine metabolism,Schizophrenia |Oligohydramnios|Intellectual disability, hyperactivity & speech developmental delay|Increased promoter activity|Hepatocellular carcinoma, increased risk, association with|Epileptic encephalopathy, early infantile 3|Breast and colorectal cancer, association with|Bipolar disorder, association with |Bipolar disorder |Autism spectrum disorder  |Amyotrophic lateral sclerosis type 19	ICGC,
chr5	90607275	90607275	G	A	ncRNA_intronic	LUCAT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-JP|1|585|0.00171	-	-	-	-	ICGC,
chr10	50640847	50640847	-	A	intergenic	DRGX,ERCC6	unknown	insertion	-	-	-	-	rs373012740	-	-	-	-	-	-	NKTL-SG|1|50|0.02000	-	-	-,integument phenotype	-,UV-sensitive syndrome|Reduced chromosomal damage in coke oven workers, association with|Macular degeneration, age-related, association with|Lung cancer, reduced risk, association with|Colorectal cancer, increased risk, association with|Cockayne syndrome type II|Cockayne syndrome ?|Cockayne syndrome|Cerebro-oculo-facio-skeletal syndrome|Bladder cancer, increased risk, association with	ICGC,
chr8	108830255	108830255	G	A	intergenic	ANGPT1,RSPO2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,integument phenotype	Stroke, reduced risk, association with,Pancreatic cancer 	ICGC,
chr9	21002165	21002165	C	T	intergenic	FOCAD,PTPLAD2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20909255	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr15	64275912	64275912	G	C	exonic	DAPK2	nonsynonymous	SNV	0.0	1.0	-	-	-	-	-	-	-	COSM3981601	-	OV-AU|1|93|0.01075	-	-	-	-	COSMIC,ICGC,
chr4	9370892	9370892	C	T	downstream	USP17L6P	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21511354	-	BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr17	6745602	6745602	T	C	intergenic	TEKT1,ALOX12P2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21809946	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr11	58458252	58458252	C	T	intergenic	ZFP91-CNTF,GLYAT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Increased activity|Null allele|Reduced activity	ICGC,
chr8	50698749	50698749	G	A	intergenic	C8orf22,SNTG1	unknown	SNV	-	-	-	9.701e-05	rs535056192	-	-	-	-	COSN25332321	-	MALY-DE|1|241|0.00415	-	-	-,-	-,Autism|Intellectual disability, cleft palate, hearing loss and dysmorphisms	COSMIC,ICGC,
chr3	5922949	5922949	C	T	intergenic	MIR4790,LOC101927347	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	128966533	128966533	G	A	intronic	ADAMTS19	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr4	61080137	61080137	C	T	intergenic	NONE,LPHN3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,behavior/neurological phenotype	-,-	ICGC,
chr19	13680478	13680478	C	T	intergenic	CACNA1A,CCDC130	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Hemiplegic migraine with cerebellar signs|Hemiplegic migraine, cerebellar dysfunction & cognitive decline|Hemiplegic migraine, coma, cerebellar atrophy|Hemiplegic migraine, coma, cerebellar atrophy.|Hemiplegic migraine, progressive cerebellar ataxia|Hemiplegic migraine/alternating hemiplegia of childhood|Hyperinsulism ?|Ischemic stroke|Mental retardation & epilepsy with infantile spasms|Migraine.|Nystagmus and late-onset ataxia|Paroxysmal head tremor, adult-onset|Progressive cerebellar ataxia|Reduced function   |Spinocerebellar ataxia 6|Hemiplegic migraine with acute striatal necrosis.|Hemiplegic migraine type 1|Altered function|Ataxia, mental retardation and dyskinesia|Benign paroxysmal torticollis of infancy.|Cerebellar ataxia  |Cerebellar ataxia.|Cerebellar atrophy, early-onset|Epilepsy, idiopathic|Episodic ataxia|Episodic ataxia 2|Episodic seizures, ataxia, and migraine with motor regression|Head tremor|Hemiconvulsion-hemiplegia-epilepsy syndrome|Hemiplegic migraine|Hemiplegic migraine and ataxia|Hemiplegic migraine and episodic ataxia 2,-	ICGC,
chr4	32436592	32436592	G	A	intergenic	PCDH7,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	33766266	33766266	T	C	intronic	RASGRP3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	hematopoietic system phenotype	Systemic lupus erythematosus, association with	ICGC,
chr1	159634699	159634699	T	A	intergenic	APCS,CRP	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5732660	-	LINC-JP|1|394|0.00254	-	-	mortality/aging,immune system phenotype	-,Systemic lupus erythematosus, association with|Myocardial infarction, decreased risk, association with|Malaria, susceptibility, association with|Lung function in central obesity, association with|Ischemic stroke|Increased CRP level|Increased coronary plaque volume, in coronary artery disease, association with.|Colon cancer, increased risk, association with|CIMP+  rectal tumours, reduced risk, association with|Atrial fibrillation, increased risk|Altered CRP levels|Altered CRP level	COSMIC,ICGC,
chr12	60873209	60873209	G	A	intergenic	SLC16A7,FAM19A2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,-	Autism spectrum disorder,-	ICGC,
chr8	2731570	2731570	A	T	intergenic	MYOM2,CSMD1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19276590	-	CLLE-ES|1|510|0.00196	-	-	-,-	-,Schizophrenia, association with |Hyperinsulinism|Autism|Attention deficit hyperactivity disorder 	COSMIC,ICGC,
chr1	232560217	232560217	G	A	intronic	SIPA1L2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr11	100268186	100268186	G	A	intergenic	CNTN5,ARHGAP42	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	behavior/neurological phenotype,-	-,-	ICGC,
chr8	88078975	88078975	G	T	intronic	CNBD1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17402043	-	ESAD-UK|1|301|0.00332	-	-	-	-	COSMIC,ICGC,
chr14	28344947	28344947	T	C	intergenic	LINC00645,FOXG1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23209279	-	MALY-DE|1|241|0.00415	-	-	-,integument phenotype	-,West syndrome |Rett-like syndrome|Rett syndrome|Refractory epilepsy & intellectual impairment|Microcephaly, mental retardation & thin genu of corpus callosum|Mental retardation, speech impairment & epilepsy|Mental retardation & speech impairment|Mental retardation & postnatal microcephaly|Mental retardation & callosum abnormalities|Mental retardation|Infantile spasms|Hemifacial microsomia|Generalized dystonia, athetosis and parkinsonism|Developmental delay, microcephaly & hypoplasia of the corpus callosum|Developmental delay, hypotonia, microcephaly & infantile spasms|Developmental delay & slow head growth|Agenesis of corpus callosum	COSMIC,ICGC,
chr4	168978170	168978170	C	T	intergenic	SPOCK3,ANXA10	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25236127	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	COSMIC,ICGC,
chr13	59711628	59711628	C	T	intergenic	LOC101926897,DIAPH3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Autism  |Auditory neuropathy spectrum disorder|Auditory neuropathy	ICGC,
chr4	129094527	129094527	T	A	intronic	LARP1B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1987812	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr4	69878849	69878849	C	T	intronic	UGT2B10	unknown	SNV	-	-	-	0.0003	rs536786161	-	0.000399361	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Autism|Lower nicotine consumption in smokers|Potential protein deficiency|Reduced enzyme activity	ICGC,
chr2	231401520	231401520	-	CGACTAAAGCC	intronic	SP100	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	Altered p53 binding	ICGC,
chr1	200397828	200397828	C	T	intergenic	ZNF281,KIF14	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	-,Schizophrenia	ICGC,
chr20	19796265	19796265	G	T	intergenic	SLC24A3,RIN2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CN|1|65|0.01538	-	-	-,-	-,RIN2 syndrome|Macrocephaly, alopecia, cutis laxa & scoliosis	ICGC,
chr5	33795480	33795480	G	T	intronic	ADAMTS12	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	cardiovascular system phenotype	-	ICGC,
chr8	106211616	106211616	G	A	intergenic	LRP12,ZFPM2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26902625	-	UTCA-FR|1|20|0.05000	-	-	-,integument phenotype	-,Atrial septal defect & gonadal dysgenesis|Diaphragmatic hernia, congenital|Double outlet right ventricle |Gonadal dysgenesis |Reduced activity|Tetralogy of Fallot 	COSMIC,COSMIC,ICGC,
chr8	93028084	93028084	C	A	intronic	RUNX1T1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	integument phenotype	Intellectual disability  	ICGC,
chr17	36452822	36452822	T	C	upstream	MRPL45	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8835907	-	OV-AU|1|93|0.01075	-	-	-	-	COSMIC,ICGC,
chr12	82287926	82287926	C	T	intergenic	PPFIA2,LOC101928449	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	56674304	56674304	G	A	intergenic	MIR4422,PPAP2B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,-	ICGC,
chr17	39100568	39100568	G	A	intergenic	KRT23,KRT39	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26610156	-	LICA-CN|1|402|0.00249	-	-	-,-	-,-	COSMIC,ICGC,
chr8	106245596	106245596	C	T	intergenic	LRP12,ZFPM2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8052924	-	GACA-CN|1|123|0.00813,PACA-AU|1|391|0.00256	-	-	-,integument phenotype	-,Atrial septal defect & gonadal dysgenesis|Diaphragmatic hernia, congenital|Double outlet right ventricle |Gonadal dysgenesis |Reduced activity|Tetralogy of Fallot 	COSMIC,ICGC,
chr9	113652766	113652766	C	G	intronic	LPAR1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	mortality/aging	Knee osteoarthritis, susceptibility to, association|Increased peripheral blood monocyte counts, association with	ICGC,
chr5	136461914	136461914	C	T	intronic	SPOCK1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	normal phenotype	Developmental delay & microcephaly	ICGC,
chr3	112432862	112432862	C	T	intergenic	CCDC80,LOC101929694	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	behavior/neurological phenotype,-	-,-	ICGC,
chr13	82907823	82907823	G	T	intergenic	SPRY2,SLITRK1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,mortality/aging	Cleft lip ,Trichotillomania|Tourette syndrome|Obsessive-compulsive disorder |Attention deficit hyperactivity disorder 	ICGC,
chr3	5945121	5945121	G	A	intergenic	MIR4790,LOC101927347	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr20	43929901	43929901	G	T	intronic	MATN4	unknown	SNV	-	-	2.036e-05	-	rs781699419	3.306e-05	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	-	ICGC,
chr14	106068580	106068580	G	T	intergenic	TMEM121,MIR8071-2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	Congenital heart disease, association with,-	ICGC,
chr20	22629472	22629472	G	A	intergenic	LINC01384,SSTR4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,-	ICGC,
chr12	117972130	117972130	G	A	intronic	KSR2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	growth/size phenotype	Obesity and insulin resistance	ICGC,
chr7	109087483	109087483	T	C	intergenic	C7orf66,EIF3IP1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6593347	-	PBCA-DE|1|499|0.00200	-	-	-,-	-,-	COSMIC,ICGC,
chr15	39370501	39370501	G	A	intergenic	C15orf53,C15orf54	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21864338	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr20	44949837	44949837	C	T	intergenic	CDH22,SLC35C2	unknown	SNV	-	-	-	6.467e-05	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	no phenotypic analysis,-	-,-	ICGC,
chr11	31104154	31104159	CTATAC	-	intergenic	DCDC5,DCDC1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	Dyslexia |Schizophrenia  ,-	ICGC,
chr8	86073644	86073644	A	G	intergenic	LRRCC1,E2F5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,integument phenotype	-,-	ICGC,
chr8	3787721	3787721	G	A	intronic	CSMD1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24113143	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	-	Schizophrenia, association with |Hyperinsulinism|Autism|Attention deficit hyperactivity disorder 	COSMIC,COSMIC,ICGC,
chr4	24305641	24305641	A	C	intergenic	PPARGC1A,MIR573	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	mortality/aging,-	Neovascularization in age-related macular degeneration, reduced risk|Left ventricular diastolic dysfunction in men, association with|Insulin resistance, association with|Increased risk for HCM|Hyperinsulinemia, HOMA-IR indices and abdominal obesity, association with|Huntington disease, age-at-onset in males, association with|Endurance-related phenotypes, association with|Diabetic nephropathy, association with|Diabetes, type 2, lower risk, association with|Diabetes, type 2, association with|Breast cancer|Body mass index, association with|Blood pressure, association with,-	ICGC,
chr7	88640221	88640221	C	T	intronic	ZNF804B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr3	102666607	102666607	G	A	intergenic	ZPLD1,MIR548A3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Cerebral cavernous malformations,-	ICGC,
chr3	108060723	108060723	C	T	intronic	HHLA2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr8	139445690	139445690	C	T	intronic	FAM135B	unknown	SNV	-	-	-	6.487e-05	-	-	-	-	-	COSN19425784	-	-	-	-	-	-	COSMIC,
chr22	26313547	26313547	-	GTGTGTGT	intronic	MYO18B	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	mortality/aging	Colorectal cancer, increased risk, association with|Leukemia, risk, association with |Schizophrenia	ICGC,
chr15	79168569	79168569	C	T	intronic	MORF4L1	unknown	SNV	-	-	-	3.28e-05	-	-	-	-	-	COSN7249506	-	PACA-AU|1|391|0.00256	-	-	integument phenotype	-	COSMIC,ICGC,
chr11	70211280	70211280	C	A	intronic	PPFIA1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr5	4657571	4657571	C	T	intergenic	IRX1,LOC101929153	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr5	120621555	120621555	A	G	intergenic	PRR16,LOC102467226	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15016543	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr9	189462	189462	C	A	intergenic	CBWD1,C9orf66	unknown	SNV	-	-	-	0.0014	-	-	-	-	-	-	-	LUSC-KR|2|170|0.01176	-	-	-,-	-,-	ICGC,
chr5	2134414	2134414	T	A	intergenic	MIR548BA,LOC100506858	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr16	88643664	88643664	G	T	exonic	ZC3H18	nonsynonymous	SNV	0.026	0.007	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr13	22769170	22769170	A	G	intergenic	LINC00424,LINC00540	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5335480	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr2	10618365	10618365	G	-	intergenic	LOC101929715,NOL10	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	-,-	-,-	ICGC,
chr11	82006592	82006592	C	T	ncRNA_intronic	LOC101928989	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr14	49163570	49163570	A	T	intergenic	LINC00648,RPS29	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr7	146248550	146248550	G	A	intronic	CNTNAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Gilles de la Tourette syndrome|Intellectual disability  |Learning disability & speech problems|Mental retardation |Mental retardation, Pitt-Hopkins-like|Multiple congenital anomalies  |Seizures, neonatal |Speech delay  |Stuttering |Epileptic encephalopathy  |Epilepsy and schizophrenia|Autism|Autism spectrum disorder |Autism spectrum disorder, modifier of|Childhood apraxia of speech|Cortical dysplasia-focal epilepsy syndrome|Developmental and/or speech and/or behavioural problems|Developmental delay  |Developmental delay & dysmorphic features|Dyslexia 	ICGC,
chr19	23909457	23909457	-	CTATCTAT	intergenic	ZNF675,ZNF681	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|2|67|0.02985	-	-	-,-	-,-	ICGC,
chr14	31226110	31226110	C	T	intergenic	SCFD1,COCH	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,hearing/vestibular/ear phenotype	-,Sensorineural hearing loss, nonsyndromic  |Progressive hearing loss|Hearing loss, unilateral|Hearing loss, non-syndromic progressive sensorineural, autosomal dominant|Deafness, non-syndromic, autosomal dominant|Deafness, non-syndromic 	ICGC,
chr6	79442871	79442871	T	A	intergenic	MEI4,IRAK1BP1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7898984	-	PACA-AU|1|391|0.00256	-	-	-,no phenotypic analysis	-,-	COSMIC,ICGC,
chr7	100129913	100129913	C	T	intergenic	NYAP1,AGFG2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr21	9733765	9733765	A	G	intergenic	NONE,MIR3648-1	unknown	SNV	-	-	-	6.712e-05	rs796947174	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr2	114244459	114244459	T	-	intronic	CBWD2	unknown	deletion	-	-	-	0.0003	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-	-	ICGC,
chr5	104749030	104749030	G	A	intergenic	RAB9BP1,LOC102467213	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20346902	-	COCA-CN|1|321|0.00312	-	-	-,-	-,-	COSMIC,ICGC,
chrX	77776930	77776930	G	A	intergenic	CYSLTR1,ZCCHC5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	respiratory system phenotype,-	Asthma, association with|Atopy, association with|Decreased expression,-	ICGC,
chr19	47335402	47335402	A	G	intergenic	SNAR-E,AP2S1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6145620	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,Hypercalcaemia, hypocalciuric type 3	COSMIC,ICGC,
chr5	5903623	5903623	T	C	intergenic	ICE1,FLJ33360	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24482833	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	COSMIC,ICGC,
chr1	166245506	166245506	A	G	intergenic	FAM78B,FMO9P	unknown	SNV	-	-	-	3.233e-05	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr11	103102086	103102086	T	A	intronic	DYNC2H1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Short rib-polydactyly syndrome, type 3|Short rib-polydactyly syndrome, Majewski type|Short rib-polydactyly syndrome|Asphyxiating thoracic dystrophy	ICGC,
chr11	13713230	13713230	T	C	intronic	FAR1	unknown	SNV	-	-	-	3.229e-05	-	-	-	-	-	COSN5901440	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr1	150453193	150453193	-	GATTTT	intergenic	RPRD2,TARS2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr2	184802549	184802549	T	C	intergenic	NUP35,ZNF804A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8763220	-	ESAD-UK|2|301|0.00664	-	-	-,-	-,Neurodevelopmental disease|Reduced cortical gray matter thickness|Schizophrenia and bipolar disorder, association with|Schizophrenia, association with  	COSMIC,ICGC,
chr8	22006369	22006369	C	T	exonic	LGI3	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM3647228	SKCM|1|368|0.00272	SKCM-US|1|335|0.00299	-	-	-	-	COSMIC,TCGA,ICGC,
chr9	91488208	91488208	-	GAGA	intergenic	MIR4289,C9orf47	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|2|67|0.02985	-	-	-,-	-,-	ICGC,
chr2	164438281	164438281	G	A	intergenic	KCNH7,FIGN	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,-	ICGC,
chr20	44507163	44507163	T	C	exonic	ZSWIM3	nonsynonymous	SNV	0.197	0.679	-	-	-	-	-	-	-	-	COAD|1|367|0.00272,COADREAD|1|489|0.00204	-	-	-	-	-	TCGA,
chr7	131084249	131084249	C	T	intronic	MKLN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	-	ICGC,
chr10	73570296	73570296	G	A	exonic	CDH23	nonsynonymous	SNV	0.066	0.834	4.061e-06	-	rs748451525	8.289e-06	-	-	-	COSM5423670	-	-	-	-	integument phenotype	Usher syndrome 2|Usher syndrome 1d|Usher syndrome 1, modifier of|Usher syndrome 1|Usher syndrome  |Sensorineural hearing loss, nonsyndromic|Retinitis pigmentosa, autosomal recessive ?|Non-syndromic autosomal recessive deafness|Hearing loss, nonsyndromic|Hearing loss, non-syndromic|Deafness, nonsyndromic  |Deafness, non-syndromic |Deafness, autosomal recessive 12 |Deafness  	COSMIC,
chr16	521389	521389	G	C	exonic	RAB11FIP3	nonsynonymous	SNV	0.064	0.993	-	-	-	-	-	-	-	COSM5000965	-	-	-	-	-	-	COSMIC,COSMIC,
chr4	183930300	183930300	A	-	intergenic	DCTD,FAM92A1P2	unknown	deletion	-	-	-	-	-	-	-	-	0.261	-	-	LMS-FR|1|67|0.01493	-	-	-,-	Reduced activity,-	ICGC,
chr19	22788831	22788831	G	A	intergenic	GOLGA2P9,LOC100996349	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	14748295	14748295	T	G	intergenic	LINC01085,CPEB2-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BOCA-UK|1|130|0.00769	-	-	-,-	-,-	ICGC,
chr11	104536721	104536721	A	G	intergenic	LOC102723895,CASP12	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,mortality/aging	-,Sepsis, susceptibility, association with	ICGC,
chr13	106177532	106177532	C	T	intergenic	DAOA-AS1,LINC00343	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr13	104278901	104278901	G	A	intergenic	MIR548AS,DAOA-AS1	unknown	SNV	-	-	-	0.0086	rs73586545	-	0.0131789	-	0.022	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	75571688	75571688	T	G	intergenic	TYW3,LHX8	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16482003	-	LIRI-JP|1|258|0.00388	-	-	-,mortality/aging	-,Cleft lip 	COSMIC,ICGC,
chr3	47268353	47268353	G	A	ncRNA_intronic	KIF9-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-	-	ICGC,
chr5	27743547	27743547	C	T	intergenic	LINC01021,LSP1P3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	ICGC,
chr6	91089911	91089911	C	T	intergenic	MIR4464,MAP3K7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,-	ICGC,
chr8	105880535	105880535	C	-	intergenic	LRP12,ZFPM2	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	-,integument phenotype	-,Atrial septal defect & gonadal dysgenesis|Diaphragmatic hernia, congenital|Double outlet right ventricle |Gonadal dysgenesis |Reduced activity|Tetralogy of Fallot 	ICGC,
chr7	56578572	56578572	A	C	intergenic	DKFZp434L192,LOC101928401	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr19	9068021	9068021	T	C	exonic	MUC16	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM1003879	UCEC|1|248|0.00403	UCEC-US|1|250|0.00400	-	-	-	-	COSMIC,COSMIC,COSMIC,TCGA,ICGC,
chr2	35386016	35386016	A	T	intergenic	MYADML,LOC100288911	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	ICGC,
chr8	111245283	111245283	G	T	intergenic	KCNV1,CSMD3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	behavior/neurological phenotype,-	-,Schizophrenia  |Colorectal cancer 	ICGC,
chr2	14059232	14059232	G	A	intergenic	LOC100506474,LINC00276	unknown	SNV	-	-	-	9.714e-05	-	-	-	-	-	-	-	CMDI-UK|1|136|0.00735	-	-	-,-	-,-	ICGC,
chr11	38065775	38065775	A	G	intergenic	C11orf74,LOC103312105	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr7	54942989	54942989	G	A	intergenic	LOC100996654,EGFR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Squamous cell carcinoma of head & neck |Reduced transcription|Lymph node metastasis and high-grade tumours in breast cancer, association with|Lung cancer, susceptibility to|Lung cancer, association with |Lung cancer prognosis, association with|Lung cancer|Glioblastoma, risk, association with|Gefitinib toxicity, association with|Acute coronary syndrome, association with|Altered transmembrane signaling|Bladder cancer, association with |Breast cancer, association with|Colorectal carcinoma prognosis, association with|Dilated cardiomyopathy, association with	ICGC,
chr6	50088458	50088458	G	C	intergenic	DEFB112,TFAP2D	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,cellular phenotype	-,Schizophrenia	ICGC,
chr19	22682599	22682599	C	T	intergenic	ZNF98,LOC101929124	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr1	156473194	156473194	C	A	intergenic	MEF2D,IQGAP3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21046685	-	BRCA-UK|1|141|0.00709,BRCA-EU|1|569|0.00176	-	-	mortality/aging,-	-,Autism 	COSMIC,COSMIC,ICGC,
chr2	138045596	138045596	A	C	intronic	THSD7B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-	Autism spectrum disorder	ICGC,
chr1	176809357	176809357	T	A	exonic	PAPPA2	nonsynonymous	SNV	0.0	1.0	-	-	-	-	-	-	-	COSM379800	-	-	-	-	hematopoietic system phenotype	-	COSMIC,
chr11	5318864	5318864	T	C	intergenic	HBE1,OR51B4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	no phenotypic analysis,nervous system phenotype	Increased expression |Thalassaemia epsilon-gamma-delta-beta|Thalassaemia gamma-delta-beta,-	ICGC,
chr15	73711594	73711594	G	A	intergenic	HCN4,REC114	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Ventricular tachycardia |Tachycardia-bradycardia syndrome and atrial fibrillation|Sudden unexpected death in epilepsy|Sudden infant death syndrome|Sinus node disease|Sinus bradycardia, asymptomatic, association with|Sinus bradycardia|Brugada syndrome    |Atrioventricular block  |Atrial fibrillation,-	ICGC,
chr6	113556973	113556973	C	T	intergenic	RFPL4B,MARCKS	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,mortality/aging	-,-	ICGC,
chr14	68301676	68301676	A	G	intronic	RAD51B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15292725	-	PRAD-UK|1|140|0.00714	-	-	mortality/aging	Potential protein deficiency|Breast cancer, male, association with|Breast and/or ovarian cancer	COSMIC,ICGC,
chr8	2719216	2719216	TG	AT	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr2	106112350	106112350	G	A	intergenic	FHL2,LOC285000	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	skeleton phenotype,-	Hip bone size, association with ,-	ICGC,
chr17	17859421	17859421	A	G	intronic	TOM1L2	unknown	SNV	-	-	-	0.4910	rs8070748	-	0.64996	-	0.493	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype	-	ICGC,
chr18	26487178	26487178	A	G	intergenic	CDH2,MIR302F	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Reduced expression|Potential protein deficiency|Alzheimer disease  ,-	ICGC,
chr18	7227076	7227076	A	C	intergenic	LAMA1,LRRC30	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23697882	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	High myopia, increased risk, association with|Intellectual disability  |Pancreatic cancer ,-	COSMIC,ICGC,
chr9	88811092	88811092	C	G	intergenic	LOC101927623,C9orf153	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN14514682	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	COSMIC,ICGC,
chr8	130051057	130051057	T	C	intergenic	LINC00824,LINC00977	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr6	124298529	124298529	C	T	intronic	NKAIN2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Developmental delay and recurrent infection|Various neurological abnormalities	ICGC,
chr19	9885871	9885871	G	A	intergenic	ZNF846,FBXL12	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17246540	-	PACA-CA|2|268|0.00746	-	-	-,-	-,-	COSMIC,ICGC,
chr5	177994131	177994131	G	A	intronic	COL23A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr21	24414226	24414226	T	C	intergenic	LINC00308,D21S2088E	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	ICGC,
chr12	83289758	83289760	CTT	-	exonic	TMTC2	nonframeshift	deletion	-	-	-	-	-	-	-	-	-	-	-	GACA-JP|1|585|0.00171	-	-	-	-	ICGC,
chr20	37297860	37297860	C	T	intergenic	ARHGAP40,SLC32A1	unknown	SNV	-	-	-	0.6564	rs220498	-	0.659145	-	0.725	-	-	LAML-KR|1|205|0.00488,SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,-	ICGC,
chr2	140343575	140343575	T	C	intergenic	YY1P2,LRP1B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,mortality/aging	-,Schizophrenia   	ICGC,
chr5	56160701	56160701	C	A	exonic	MAP3K1	nonsynonymous	SNV	0.001	0.997	-	-	-	-	-	-	-	COSM3828208	BRCA|1|982|0.00102	BRCA-US|1|955|0.00105	-	-	integument phenotype	Disorders of sex development|Potential protein deficiency	COSMIC,COSMIC,TCGA,ICGC,
chr11	110469489	110469489	A	G	intronic	ARHGAP20	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr6	92978732	92978732	G	A	intergenic	CASC6,EPHA7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,nervous system phenotype	-,Development delay and dysmorphic features|Leukemia, risk, association with 	ICGC,
chr6	5116282	5116282	A	G	intronic	LYRM4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	Cognitive deficit in schizophrenia, association with|Gyral pattern anomaly with speech and language disorder|OXPHOS deficiency, combined	ICGC,
chrX	28292093	28292093	C	T	intergenic	DCAF8L1,MIR6134	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr8	3017525	3017525	G	A	intronic	CSMD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Schizophrenia, association with |Hyperinsulinism|Autism|Attention deficit hyperactivity disorder 	ICGC,
chr2	187404874	187404874	-	T	intergenic	ZC3H15,ITGAV	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,mortality/aging	-,Prostate cancer, reduced risk, association with	ICGC,
chr8	88158453	88158453	T	C	intronic	CNBD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr7	68209414	68209414	A	-	intergenic	LOC102723427,LOC100507468	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	ICGC,
chr11	22424972	22424972	T	A	intergenic	SLC17A6,LOC102723378	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21360492	-	BRCA-EU|1|569|0.00176	-	-	integument phenotype,-	-,-	COSMIC,ICGC,
chr16	76047747	76047747	T	C	intergenic	TERF2IP,CNTNAP4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN14453541	-	PACA-AU|1|391|0.00256	-	-	mortality/aging,-	-,Autism	COSMIC,ICGC,
chr3	12821287	12821287	A	G	intergenic	TMEM40,CAND2	unknown	SNV	-	-	-	0.5408	rs9877079	-	0.457668	-	0.551	-	-	ESAD-UK|1|301|0.00332,LAML-KR|2|205|0.00976	-	-	-,homeostasis/metabolism phenotype	-,-	ICGC,
chr6	119894158	119894158	C	T	intergenic	LOC285762,TBC1D32	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,Oro-facio-digital syndrome type IX	ICGC,
chr9	7757891	7757891	C	T	intergenic	KDM4C,TMEM261	unknown	SNV	-	-	-	0.3802	rs7863770	-	0.329473	-	0.355	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,-	Upper aerodigestive tract cancer, association with,-	ICGC,
chr2	117438644	117438644	C	T	intergenic	DPP10,DDX18	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5477786	-	LIRI-JP|1|258|0.00388	-	-	-,-	Autism spectrum disorder,-	COSMIC,ICGC,
chr19	43430782	43430782	T	G	exonic	PSG7	nonsynonymous	SNV	-	0.999	-	-	-	-	-	-	-	COSN1082369	UCEC|1|248|0.00403	UCEC-US|1|250|0.00400	-	-	-	-	COSMIC,TCGA,ICGC,
chr14	56968439	56968439	T	G	intergenic	PELI2,TMEM260	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5749702	-	LINC-JP|1|394|0.00254	-	-	-,-	-,-	COSMIC,ICGC,
chr2	178902862	178902862	A	T	intronic	PDE11A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	behavior/neurological phenotype	Testicular germ cell tumour, association with|Prostate cancer, susceptibility to |Altered enzyme activity|Adrenocortical tumours|Adrenocortical hyperplasia|Adrenocortical adenoma.|Adrenocortical adenoma|ACTH-independent macronodular adrenocortical hyperplasia|ACTH-independent macronodular adrenal hyperplasia	ICGC,
chr4	124670161	124670161	C	T	ncRNA_intronic	LINC01091	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr22	42152988	42152988	A	C	intronic	MEI1	unknown	SNV	-	-	-	0.3386	rs17377643	-	0.251597	-	0.319	-	-	LAML-KR|1|205|0.00488	-	-	reproductive system phenotype	-	ICGC,
chr18	49010875	49010875	G	A	ncRNA_intronic	LOC100287225	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr1	91980793	91980793	G	T	intronic	CDC7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging	-	ICGC,
chr11	82551748	82551748	T	A	intronic	PRCP	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5921369	-	LIRI-JP|1|258|0.00388	-	-	behavior/neurological phenotype	Autism	COSMIC,ICGC,
chr15	32272100	32272100	C	T	intergenic	OTUD7A,CHRNA7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,mortality/aging	-,P50 inhibitory defect, association with|P50 inhibitory defect, protection against, association with|Personality disorder |Reduced receptor activity|Schizophrenia|Seizures |Seizures, mental retardation, macrocytosis & retinal dysfunction|Speech & learning problems with autism|Mental retardation, seizures & dysmorphism|Encephalopathy with seizures & hypotonia|15q13.3 microdeletion syndrome|Attention deficit hyperactivity disorder & obsessive compulsive disorder|Autism|Autism spectrum disorder  |Congenital blindness & convulsive encephalopathy|Developmental delay  |Developmental delay, hypotonia, visual impairment & seizures|Developmental delay, mental retardation and seizures	ICGC,
chr20	4557225	4557225	A	G	intergenic	ADRA1D,PRNP	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	behavior/neurological phenotype,mortality/aging	-,Pan-autonomic failure, sensory neuropathy & cognitive impairment|Leg hyperreflexia in Gerstmann-Sträussler-Scheinker syndrome|Gerstmann-Sträussler-Scheinker syndrome.|Gerstmann-Sträussler-Scheinker syndrome and Creutzfeldt-Jakob disease, rapidly progressive.|Gerstmann-Sträussler-Scheinker syndrome  presenting as familial Creutzfeldt-Jakob disease|Gerstmann-Straeussler-Scheinker syndrome|Gerstmann-Straeussler syndrome, association with|Gerstmann-Straeussler syndrome|Parkinson disease  |Presenile dementia and hypokinetic syndrome|Wilson disease, neurological, modifier of|Spongiform encephalopathy, familial|Schizoaffective disorder|PrP cerebral amyloid angiopathy|Progressive ataxo-spastic syndrome with mild cognitive impairment|Prion disease, resistance to, association with|Prion disease|Primary dementia with prominent frontotemporal signs|Gastric cancer|Fatal insomnia|Creutzfeldt-Jakob syndrome|Creutzfeldt-Jakob disease, slowly progressive.|Creutzfeldt-Jakob disease, rapidly progressive.|Creutzfeldt-Jakob disease, rapidly progressive, and Creutzfeldt-Jakob disease, slowly progressive.|Creutzfeldt-Jakob disease risk, association with|Atypical parkinsonism.|Alzheimer disease risk|Alzheimer disease|Creutzfeldt-Jakob syndrome, protection, association with|Creutzfeldt-Jakob syndrome, sporadic, association|Fatal familial insomnia, association with|Fatal familial insomnia|Encephalopathy, familial|Diarrhoea, autonomic failure & neuropathy|Dementia, young-onset|Dementia, neurodegenerative|Dementia|Creutzfeldt-Jakob syndrome.	ICGC,
chr8	116107608	116107608	T	A	intergenic	CSMD3,TRPS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	-,integument phenotype	Schizophrenia  |Colorectal cancer ,Tricho-rhino-phalangeal syndrome with supernumerary teeth|Tricho-rhino-phalangeal syndrome III|Tricho-rhino-phalangeal syndrome I|Tricho-rhino-phalangeal syndrome|Infantile scoliosis & developmental delay|Femoral neck width, association with|Ambras syndrome	ICGC,
chr3	24226804	24226804	T	C	ncRNA_intronic	LOC101927854	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr6	71043525	71043525	G	A	intergenic	COL9A1,FAM135A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CN|1|65|0.01538	-	-	vision/eye phenotype,-	Deafness  |Multiple epiphyseal dysplasia|Stickler syndrome, autosomal recessive,-	ICGC,
chr4	181637917	181637917	A	G	intergenic	NONE,LINC00290	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr18	33726011	33726011	G	T	exonic	ELP2	nonsynonymous	SNV	0.006	0.916	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	Intellectual disability  	ICGC,
chr3	165944713	165944713	C	T	intergenic	BCHE,ZBBX	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Serum cholinesterase deficiency|Potential protein deficiency|Obesity and triglyceride levels, association with|Hypocholinesterasaemia|Fronto-temporal dementia, association with|Cholinesterasaemia|Butyrylcholinesterase variant|Butyrylcholinesterase deficiency|Addiction to crack cocaine, association with|Acholinesterasaemia,-	ICGC,
chr16	49270898	49270898	C	T	intergenic	N4BP1,CBLN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	no phenotypic analysis,behavior/neurological phenotype	-,-	ICGC,
chr15	75129602	75129602	G	T	intronic	ULK3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26564324	-	LICA-CN|1|402|0.00249	-	-	-	-	COSMIC,ICGC,
chr5	104540560	104540560	G	A	intergenic	RAB9BP1,LOC102467213	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	10665063	10665063	A	G	intergenic	ATP2B2,ATP2B2-IT2	unknown	SNV	-	-	-	3.231e-05	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	reproductive system phenotype,-	Deafness, autosomal recessive 12, modifier of,-	ICGC,
chr14	41492293	41492293	A	T	ncRNA_intronic	LOC644919	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15960690	-	PACA-CA|1|268|0.00373	-	-	-	-	COSMIC,COSMIC,ICGC,
chr8	78425471	78425471	C	T	intergenic	PEX2,PKIA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	mortality/aging,normal phenotype	Zellweger syndrome|Refsum disease, infantile|Peroxisome biogenesis disorder|Cerebellar ataxia, autosomal recessive,-	ICGC,
chr4	9970489	9970489	G	A	intronic	SLC2A9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging	Gout, association with|Renal hypouricaemia|Renal hypouricaemia with exercise-induced acute renal failure	ICGC,
chr1	81790537	81790537	G	A	intergenic	NONE,LPHN2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,mortality/aging	-,Schizophrenia	ICGC,
chr15	95025489	95025489	T	C	UTR3	MCTP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-	Coarctation of the aorta |Coarctation of the aorta and hypoplastic left heart syndrome 	ICGC,
chr5	110094333	110094333	T	A	intronic	SLC25A46	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-	Tetralogy of Fallot	ICGC,
chr13	110385485	110385485	C	T	intergenic	LINC00676,IRS2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332,NKTL-SG|1|50|0.02000	-	-	-,integument phenotype	-,Reduced haemoglobin A1C levels|Longevity, association with|Insulin resistance, severe |Endometriosis, increased risk, association with|Diabetes, type 2, association with|Diabetes, type 2 |Diabetes in overweight people, association with|Altered fasting serum insulin concentration	ICGC,
chr4	179435451	179435451	C	-	intergenic	LINC01098,NONE	unknown	deletion	-	-	-	-	-	-	-	-	-	COSN26087963	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr4	69717249	69717249	T	G	intergenic	UGT2B10,UGT2A3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	Autism|Lower nicotine consumption in smokers|Potential protein deficiency|Reduced enzyme activity,Reduced enzyme activity	ICGC,
chr14	59396373	59396373	T	A	ncRNA_intronic	LOC102723742	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	-	-	ICGC,
chr11	81220338	81220338	T	C	intergenic	LOC101928944,LOC101928989	unknown	SNV	-	-	-	6.482e-05	-	-	-	-	-	COSN5920768	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr9	10969162	10969162	G	A	intergenic	PTPRD-AS2,TYRP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Albinism, oculocutaneous  |Albinism, oculocutaneous 3|Melanesian blond hair	ICGC,
chr12	71569736	71569736	T	C	intergenic	TSPAN8,LGR5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,-	ICGC,
chr1	73031086	73031086	C	T	intergenic	NEGR1,LINC01360	unknown	SNV	-	-	-	6.475e-05	-	-	-	-	-	COSN24415976	-	PACA-CA|1|268|0.00373,UTCA-FR|1|20|0.05000	-	-	behavior/neurological phenotype,-	Obesity, association with|Dyslexia |Body mass index, association with|Attention deficit hyperactivity disorder,-	COSMIC,COSMIC,COSMIC,ICGC,
chr4	628376	628376	C	-	intronic	PDE6B	unknown	deletion	-	-	-	-	-	-	-	-	-	COSN26988431	-	-	-	-	integument phenotype	Leber congenital amaurosis|Nightblindness, stationary|Retinitis pigmentosa|Retinitis pigmentosa, autosomal recessive	COSMIC,
chrX	35102804	35102804	G	A	intergenic	FAM47B,MAGEB16	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19311248	-	CLLE-ES|1|510|0.00196	-	-	-,-	Potential protein deficiency,Potential protein deficiency	COSMIC,ICGC,
chr10	56195937	56195937	G	A	intronic	PCDH15	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	vision/eye phenotype	Usher syndrome II|Usher syndrome 1f|Usher syndrome 1|Lipid levels in hyperlipidaemia, association with|Hearing loss, non-syndromic|Deafness, non-syndromic, autosomal recessive|Deafness, non-syndromic |Deafness  	ICGC,
chr2	240642135	240642135	C	T	intergenic	HDAC4,LOC150935	unknown	SNV	-	-	-	0.0047	rs148056457	-	0.00299521	-	0.007	COSN7801242	-	-	-	-	integument phenotype,-	Anorexia nervosa/bulimia nervosa|Autism spectrum disorder|Brachydactyly mental retardation syndrome|Brachydactyly mental retardation syndrome & hyperoxaluria, type 1,-	COSMIC,
chr6	77667199	77667199	G	T	intergenic	IMPG1,HTR1B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,skeleton phenotype	Macular dystrophy, vitelliform,Suicidal ideation, in major depression, association with|Receptor variant|Alcohol dependence, association with|Alcohol and drug abuse, association with|Aggressive behaviour, association with	ICGC,
chr8	132298064	132298064	G	A	intergenic	ADCY8,EFR3A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Myocardial infarction  ,Autism|Potential protein deficiency	ICGC,
chr6	124320248	124320248	G	A	intronic	NKAIN2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	Developmental delay and recurrent infection|Various neurological abnormalities	ICGC,
chr6	17576435	17576435	T	C	intergenic	CAP2,FAM8A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,Autism	ICGC,
chr15	40519346	40519346	T	A	intronic	PAK6	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27183742	-	PRAD-CA|1|308|0.00325	-	-	reproductive system phenotype	-	COSMIC,ICGC,
chr13	82758491	82758491	A	T	intergenic	SPRY2,SLITRK1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	mortality/aging,mortality/aging	Cleft lip ,Trichotillomania|Tourette syndrome|Obsessive-compulsive disorder |Attention deficit hyperactivity disorder 	ICGC,
chr2	50944729	50944729	G	A	intronic	NRXN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Hypotonia|Hypotonia & encephalopathy|Increased white matter volume, association with|Intellectual disability  |Intellectual disability & attention deficit hyperactivity disorder|Intellectual disability & hearing loss|Intellectual disability & pervasive developmental disorder|Intellectual disability and autism|Intellectual disability, nonsyndromic |Intellectual disability, seizures, dysmorphisms & language delay|Growth retardation  |Epilepsy, myoclonic seizures & speech delay|Developmental disorder|Developmental disorder & attention deficit hyperactivity disorder|Developmental disorder, seizures & attention deficit hyperactivity disorder|Developmental/intellectual disability, hypotonia & dysmorphic features|Disorder of muscle, ligament & fascia|Encephalopathy  |Epilepsy  |Epilepsy with cognitive impairment / autism spectrum disorder|Epilepsy with focal seizures|Epilepsy, generalised |Intellectual disability, seizures, language delay & hypotonia|Language delay|Learning difficulties|Respiratory distress & sepsis|Respiratory distress syndrome|Schizophrenia |Schizophrenia, childhood onset |Schizophrenia, disorganised type|Seizures, generalized tonic-clonic & attention deficit hyperactivity disorder|Sensory integration disorder & attention deficit hyperactivity disorder|Speech delay & social communication difficulties|Tourette syndrome|Pervasive developmental disorder / hypotonia|Pervasive developmental disorder|Pervasive developmental delay / mental retardation, lack of coordination & hearing loss|Learning difficulties, ADHD & autism|Mental retardation|Mental retardation, autism, vertebral malformations|Mental retardation, Pitt-Hopkins-like|Microcephaly & mental retardation|Multiple congenital anomalies  |Multiple disabilities|Myoclonic epilepsy   |Neurodevelopmental disorder  |Vertebral anomalies|Developmental delay, speech delay & social communication difficulties|Attention deficit hyperactivity disorder |Autism spectrum disorder, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability & language delay|Autism spectrum disorder, intellectual disability, dysmorphisms, developmental delay & language delay|Autism spectrum disorder, intellectual disability, seizures & developmental delay|Autism spectrum disorder, intellectual disability, seizures, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability, seizures, dysmorphisms & language delay|Autism spectrum disorder, seizures, developmental delay & language delay|Autism, intellectual disability & attention deficit hyperactivity disorder|Autistic disorder|Autism spectrum disorder with developmental & speech delay|Autism spectrum disorder & seizures|Autism spectrum disorder & language delay|Autism |Autism & learning difficulties|Autism & mental retardation|Autism & seizures|Autism spectrum disorder|Autism spectrum disorder & attention deficit hyperactivity disorder|Autism spectrum disorder & developmental delay|Autism spectrum disorder & dysmorphic features|Autism spectrum disorder & intellectual disability|Behavioural problems|Congenital heart defect  |Craniofacial dysmorphism|Developmental delay & speech/motor delay|Developmental delay with early-onset epilepsy|Developmental delay, dysmorphic features & short stature|Developmental delay, epilepsy, autism|Developmental delay, language delay & hypotonia|Developmental delay, learning difficulties, ADHD|Developmental delay, microcephaly & behavioural problems|Developmental delay, pulmonic stenosis & autism spectrum disorder|Developmental delay, short stature and diaphragmatic hernia|Developmental delay, speech delay & microcephaly|Developmental delay & seizures|Developmental delay & seizure disorder|Cystic hygroma, hydrops & micrognathia|Cystic hygroma, shortened upper limbs & fetal demise|Developmental & speech delay|Developmental delay|Developmental delay / autism|Developmental delay & autism|Developmental delay & dysmorphic features|Developmental delay & epilepsy|Developmental delay & hypotonia|Developmental delay & multiple congenital anomalies	ICGC,
chr3	56290952	56290952	C	T	intronic	ERC2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	vision/eye phenotype	-	ICGC,
chr5	20979650	20979650	A	T	intergenic	CDH18,GUSBP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	Anorectal malformation,-	ICGC,
chr20	60100951	60100951	C	T	intronic	CDH4	unknown	SNV	-	-	-	9.694e-05	-	-	-	-	-	COSN9146538	-	OV-AU|1|93|0.01075	-	-	cellular phenotype	Reduced expression	COSMIC,ICGC,
chrX	8719110	8719110	A	C	intergenic	KAL1,FAM9A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	RECA-EU|1|422|0.00237	-	-	-,-	Septo-optic dysplasia  |Kallmann syndrome, reversible|Kallmann syndrome and ichthyosis|Kallmann syndrome|Hypothalamic amenorrhea |Hypogonadotropic hypogonadism, idiopathic|Hypogonadotrophic hypogonadism, idiopathic|GnRH deficiency |Chondrodysplasia punctata|Autism spectrum disorder,-	ICGC,
chr7	7732967	7732967	-	TTTA	ncRNA_intronic	RPA3OS	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|2|67|0.02985	-	-	-	-	ICGC,
chr8	130767854	130767854	C	T	intronic	GSDMC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr15	61388871	61388871	G	A	intronic	RORA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Obesity	ICGC,
chr4	92642291	92642291	G	A	intergenic	CCSER1,GRID2	unknown	SNV	-	-	-	0.0847	rs73837999	-	0.0824681	-	0.130	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,Cerebellar ataxia & tonic upgaze|Cerebellar ataxia and atrophy|Schizophrenia|Spastic paraplegia, complicated	ICGC,
chr19	14013152	14013152	A	-	intronic	C19orf57	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332,LIRI-JP|1|258|0.00388	-	-	-	-	ICGC,
chr5	107616189	107616189	A	C	intronic	FBXL17	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9250149	-	OV-AU|1|93|0.01075	-	-	-	-	COSMIC,ICGC,
chr5	18559711	18559711	G	A	intergenic	LOC401177,CDH18	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9423664	-	OV-AU|1|93|0.01075	-	-	-,-	-,Anorectal malformation	COSMIC,ICGC,
chr3	156343261	156343261	G	A	intergenic	SSR3,TIPARP-AS1	unknown	SNV	-	-	-	6.469e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	-,-	ICGC,
chr4	111623413	111623413	G	A	intergenic	PITX2,C4orf32	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Ring dermoid of the cornea|Rieger syndrome|Peter anomaly|Omphalocele, association with |Omphalocele|Iris hypoplasia|Iridogoniodysgenesis syndrome|Craniofacial/acallosal CNS midline defects|Axenfeld-Rieger syndrome|Anterior segment dysgenesis,-	ICGC,
chr14	97550738	97550738	T	G	intergenic	LINC00618,LOC101929241	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25201759	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	COSMIC,ICGC,
chr6	43477240	43477240	G	A	intronic	LRRC73	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-	-	ICGC,
chr4	181960378	181960378	CC	TT	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr4	114878600	114878600	G	A	intronic	ARSJ	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22061907	-	BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr6	27982767	27982767	C	T	intergenic	OR2B6,ZNF165	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	142419759	142419759	A	T	intronic	ARHGAP26	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-	-	ICGC,
chr15	62023962	62023962	A	C	intergenic	RORA,VPS13C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Obesity,Schizophrenia  	ICGC,
chr12	90426813	90426813	A	C	intergenic	LINC00936,LINC00615	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr22	22462623	22462623	A	-	intergenic	TOP3B,VPREB1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,hematopoietic system phenotype	Short stature|Schizophrenia / cognitive impairment, association with|Mild mental retardation and generalised overgrowth,Rheumatoid arthritis, reduced risk, association with	ICGC,
chr18	37029568	37029568	A	C	ncRNA_intronic	LINC00669	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8396360	-	MALY-DE|1|241|0.00415	-	-	-	-	COSMIC,ICGC,
chr21	45272762	45272762	C	T	intergenic	LOC284837,AGPAT3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,-	ICGC,
chr2	197003186	197003186	-	T	intronic	STK17B	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	hematopoietic system phenotype	-	ICGC,
chr9	86482223	86482223	T	G	intronic	KIF27	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	mortality/aging	-	ICGC,
chr3	175584651	175584651	A	G	intergenic	NAALADL2,LINC01208	unknown	SNV	-	-	-	0.1573	rs4894738	-	0.282548	-	0.130	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr19	51671596	51671596	G	C	ncRNA_exonic	SIGLEC17P	unknown	SNV	-	-	-	-	-	-	-	-	-	COSM3960343	-	LUSC-KR|1|170|0.00588	-	-	-	-	COSMIC,ICGC,
chrX	77424896	77424896	G	A	intergenic	TAF9B,CYSLTR1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	normal phenotype,respiratory system phenotype	-,Asthma, association with|Atopy, association with|Decreased expression	ICGC,
chr2	4244851	4244851	C	T	intergenic	LINC01304,LINC01249	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr7	138127032	138127032	G	T	intergenic	MIR4468,TRIM24	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7654786	-	-	-	-	-,cellular phenotype	-,-	COSMIC,
chr13	112881348	112881348	T	C	intergenic	LINC01070,LOC101928730	unknown	SNV	-	-	-	0.6251	rs280818	-	0.461861	-	0.667	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr7	66660360	66660360	C	T	intronic	TYW1	unknown	SNV	-	-	0.2131	0.2793	rs34574768	0.2281	0.276957	0.1950	0.145	COSN15314990	-	-	-	-	-	-	COSMIC,
chr6	137539111	137539111	G	A	intronic	IFNGR1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25791191	-	EOPC-DE|1|202|0.00495	-	-	integument phenotype	Malaria, susceptibility, association with|Mycobacterial infection|Mycobacterium avium infection|Mycobacterium avium osteomyelitis|Reduced expression|Malaria, protection against, association with|Leprosy, susceptibility to, association with|Increased promoter activity|IFNGR1 deficiency|Gastric carcinoma, association with|BCG infection|Atrophic gastritis, association with.|Allergic disease	COSMIC,ICGC,
chr11	22757268	22757268	G	A	intronic	GAS2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20829542	-	BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr7	4666477	4666477	-	CGAA	intergenic	SDK1,FOXK1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,mortality/aging	-,Autism	ICGC,
chr4	84629952	84629952	T	C	intergenic	AGPAT9,NKX6-1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,mortality/aging	-,-	ICGC,
chr2	226377518	226377518	C	T	intronic	NYAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr5	158337210	158337210	C	T	intronic	EBF1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	-	ICGC,
chr2	17144065	17144065	G	A	intergenic	FAM49A,RAD51AP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr1	176561011	176561011	G	A	intronic	PAPPA2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype	-	ICGC,
chr12	49184977	49184977	G	T	downstream	LOC100506125	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr8	84898418	84898418	T	C	intergenic	LINC01419,RALYL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr8	88191103	88191103	A	T	intronic	CNBD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr22	48680429	48680429	C	T	intergenic	MIR3201,FAM19A5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr11	49489492	49489492	G	A	intergenic	FOLH1,LOC440040	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	behavior/neurological phenotype,-	Reduced serum folate|Prostate cancer, protection against, association|Prostate cancer, association with |Increased risk of CAD & miscarriage and reduced risk of autism & cancer, association with|Increased plasma folate levels, association with|Altered plasma folate concentration, association with,-	ICGC,
chr6	79124436	79124436	C	-	intergenic	MEI4,IRAK1BP1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,no phenotypic analysis	-,-	ICGC,
chr3	183264133	183264133	G	A	intronic	KLHL6	unknown	SNV	-	-	-	3.228e-05	-	-	-	-	-	-	-	UTCA-FR|1|20|0.05000	-	-	hematopoietic system phenotype	Autism spectrum disorder	ICGC,
chr15	45522275	45522275	C	T	intergenic	SHF,LOC101928414	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	194091850	194091850	A	T	intergenic	PCGEM1,LOC101927406	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr9	106012427	106012427	T	A	ncRNA_intronic	LOC101928496	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-	-	ICGC,
chr17	21154382	21154382	A	C	intronic	NATD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr4	98804375	98804375	T	A	intronic	STPG2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr3	187464118	187464118	G	A	upstream	BCL6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	mortality/aging	-	ICGC,
chr10	49585025	49585025	G	A	intronic	MAPK8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	integument phenotype	Schizophrenia	ICGC,
chr3	40030308	40030308	T	C	intronic	MYRIP	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1276864	-	LINC-JP|1|394|0.00254	-	-	-	-	COSMIC,ICGC,
chrX	153778008	153778008	G	A	intronic	IKBKG	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Incontinentia pigmenti with immune deficiency|Incontinentia pigmenti, familial|Mycobacteriosis, atypical, familial|OL-HED-ID|Osteopetrosis, lymphoedema, hypohidrotic ectodermal dysplasia and immunodeficiency|White matter anomalies in Xq28 duplication syndrome|Incontinentia pigmenti |Immune deficiency with ectodermal dysplasia and anhidrosis.|Immune deficiency|IgA and IgG hypogammaglobulinaemia|Ectodermal dysplasia, hypohidrotic|Ectodermal dysplasia with immune deficiency|Ectodermal dysplasia|Behcet's disease	ICGC,
chr16	62397581	62397581	G	C	intergenic	CDH8,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	integument phenotype,-	Learning disability  |Autism & learning disability ,-	ICGC,
chrX	92362343	92362343	C	T	intergenic	PCDH11X,NAP1L3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Absent speech, intellectual disability & behavioural problems|Attention deficit hyperactivity disorder & obsessive compulsive disorder|Developmental dyslexia |Language delay, nonsyndromic ,-	ICGC,
chr1	119183990	119183990	G	A	intergenic	SPAG17,TBX15	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	Autism,Cousin syndrome	ICGC,
chr5	160077404	160077404	A	T	intronic	ATP10B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6870604	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr10	3798748	3798748	G	T	intergenic	PITRM1,KLF6	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8184951	-	PACA-CA|1|268|0.00373	-	-	-,integument phenotype	-,Decreased promoter activity|Lung adenocarcinoma, reduced risk, association with.|Nonalcoholic fatty liver disease fibrosis, association with|Prostate cancer |Prostate cancer, risk, association with|Reduced hepatic insulin resistance	COSMIC,ICGC,
chr10	81060579	81060579	C	T	exonic	ZMIZ1	synonymous	SNV	-	-	0.0001	-	rs765411461	9.118e-05	-	-	-	COSM1349259	COAD|1|367|0.00272,COADREAD|1|489|0.00204	COAD-US|1|254|0.00394	-	-	integument phenotype	Vitiligo, susceptibility to	COSMIC,TCGA,ICGC,
chr3	180139697	180139697	G	A	intergenic	PEX5L,TTC14	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	behavior/neurological phenotype,-	-,-	ICGC,
chr11	119293993	119293993	T	G	ncRNA_intronic	USP2-AS1	unknown	SNV	-	-	-	0.0009	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	-	ICGC,
chr8	108335519	108335519	T	G	intronic	ANGPT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Stroke, reduced risk, association with	ICGC,
chr8	52480335	52480335	A	C	intronic	PXDNL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr17	57914915	57914915	A	T	intronic	VMP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-	-	ICGC,
chr11	59480737	59480737	G	A	exonic	OR10V1	synonymous	SNV	-	-	2.449e-05	-	rs377363304	8.268e-06	-	7.7e-05	-	COSM267063	COAD|1|367|0.00272,COADREAD|1|489|0.00204	-	-	-	-	Autism spectrum disorder	COSMIC,TCGA,
chr10	17016895	17016895	A	G	intronic	CUBN	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Pulmonary atresia  |Proteinuria  |Potential protein deficiency|Megaloblastic anaemia|Imerslund-Gräsbeck syndrome|High HDL cholesterol|Albuminuria, association with	ICGC,
chr1	44725555	44725555	-	CGAT	intronic	ERI3	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	-	ICGC,
chr1	38456332	38456332	C	A	upstream	SF3A3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5371626	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr20	47852689	47852689	G	A	exonic	DDX27	nonsynonymous	SNV	0.012	1.0	5.365e-05	-	rs760415513	5.979e-05	-	-	-	COSM1412336	COAD|1|367|0.00272,COADREAD|1|489|0.00204	COAD-US|1|254|0.00394	-	-	mortality/aging	-	COSMIC,TCGA,ICGC,
chr12	72432861	72432861	T	C	intergenic	TPH2,TRHDE-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,-	Unipolar major depression, association with|Tryptophan hydroxylase 2 deficiency|Suicide, association with |Reduced promoter activity|Increased mRNA expression |Increased amygdala activity|Bipolar affective disorder, association with|Attention-deficit/hyperactivity disorder, association with.|Attention deficit hyperactivity disorder|Alternative splicing|Altered gene expression,-	ICGC,
chr13	90584859	90584859	G	A	intergenic	LINC00353,LINC00559	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN18996555	-	CLLE-ES|1|510|0.00196	-	-	-,-	-,-	COSMIC,ICGC,
chr10	65149083	65149083	A	G	intronic	JMJD1C	unknown	SNV	-	-	-	7.22e-05	-	-	-	-	-	COSN6978597	-	PACA-AU|1|391|0.00256	-	-	-	Autism|Autism spectrum disorder  	COSMIC,ICGC,
chr4	115824067	115824067	C	T	intronic	NDST4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr2	38599281	38599281	-	TT	intronic	ATL2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|2|67|0.02985	-	-	-	-	ICGC,
chr3	7976644	7976644	T	A	intergenic	GRM7,LOC101927394	unknown	SNV	-	-	-	-	rs373731352	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,-	Schizophrenia, association with  |Autism |Attention deficit hyperactivity disorder,-	ICGC,
chr12	65526530	65526530	G	A	intergenic	WIF1,LEMD3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	mortality/aging,mortality/aging	-,Osteopoikilosis, short stature & learning disabilities|Osteopoikilosis|Melorheostosis|Collagenoma|Buschke-Ollendorff syndrome	ICGC,
chr2	43953567	43953567	C	T	exonic	PLEKHH2	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM3581726	SKCM|1|368|0.00272	SKCM-US|1|335|0.00299	-	-	-	-	COSMIC,TCGA,ICGC,
chr6	45390685	45390685	G	A	exonic	RUNX2	synonymous	SNV	-	-	4.149e-06	-	-	-	-	-	-	COSM3411141	GBM|1|290|0.00345,GBMLGG|1|820|0.00122	GBM-US|1|276|0.00362	-	-	integument phenotype	Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly|Lack of typical supernumerary teeth, in cleidocranial dysplasia.|Femoral neck-bone mineral density, association with|Craniosynostosis, single-suture|Craniosynostosis|Cleidocranial dysplasia & hypophosphatasia|Cleidocranial dysplasia	COSMIC,COSMIC,TCGA,ICGC,
chr11	79773584	79773584	G	A	intergenic	TENM4,LOC101928944	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	-,-	ICGC,
chr11	32148370	32148370	C	T	intergenic	RCN1,WT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,Nephrotic syndrome, steroid-resistant|Nephrotic syndrome, steroid resistant|Nephrotic syndrome|Nephrotic proteinuria|Nephrotic syndrome.|Renal dysfunction & renal blastema|Ureteropelvic junction obstruction      |Wilms tumour|Wilms tumour and nephropathy|Wilms tumour, adult|Wilms tumour.|Membranoproliferative glomerulonephritis|Hypospadias|46, XY disorder of sex development|46,XY disorder of sex development |46,XY disorder of sex development with bilateral gonadoblastoma|Denys-Drash syndrome|Denys-Drash syndrome, incomplete|Denys-Drash syndrome, incomplete.|Diffuse mesangial sclerosis|Early-onset nephrotic syndrome|Focal segmental glomerulosclerosis|Focal segmental glomerulosclerosis in WAGR syndrome.|Frasier syndrome	ICGC,
chr4	32545973	32545973	G	A	intergenic	PCDH7,NONE	unknown	SNV	-	-	-	0.0191	rs115289658	-	0.0261581	-	0.043	COSN9788548	-	RECA-EU|1|422|0.00237	-	-	-,-	-,-	COSMIC,ICGC,
chr9	11427817	11427817	G	A	intergenic	PTPRD-AS2,TYRP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,integument phenotype	-,Albinism, oculocutaneous  |Albinism, oculocutaneous 3|Melanesian blond hair	ICGC,
chr16	82755908	82755908	C	T	intronic	CDH13	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Higher adiponectin levels|Amyotrophic lateral sclerosis 	ICGC,
chr5	21342352	21342352	A	G	intergenic	CDH18,GUSBP1	unknown	SNV	-	-	-	0.0011	rs62348348	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	Anorectal malformation,-	ICGC,
chr12	73707603	73707603	T	A	intergenic	LOC101928137,LOC100507377	unknown	SNV	-	-	-	3.231e-05	-	-	-	-	-	COSN8121632	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	COSMIC,ICGC,
chr3	135446534	135446534	C	T	intergenic	EPHB1,PPP2R3A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	vision/eye phenotype,-	-,-	ICGC,
chr20	49658300	49658300	C	A	intergenic	KCNG1,NFATC2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-,hematopoietic system phenotype	-,Developmental delay, facial dysmorphism & skeletal anomalies	ICGC,
chr1	157258388	157258389	GA	-	intergenic	ETV3,FCRL5	unknown	deletion	-	-	-	-	-	-	-	-	-	COSN23296615	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	COSMIC,ICGC,
chr3	34053819	34053819	GG	AC	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr2	39871749	39871749	A	G	intergenic	LOC728730,TMEM178A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9373230	-	OV-AU|1|93|0.01075	-	-	-,-	-,-	COSMIC,ICGC,
chr13	25150301	25150301	C	T	intergenic	PARP4,TPTE2P6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	normal phenotype,-	-,-	ICGC,
chr1	202234261	202234261	T	C	intronic	LGR6	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7198326	-	PACA-AU|1|391|0.00256	-	-	normal phenotype	-	COSMIC,ICGC,
chr2	50977288	50977288	T	A	intronic	NRXN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	mortality/aging	Hypotonia|Hypotonia & encephalopathy|Increased white matter volume, association with|Intellectual disability  |Intellectual disability & attention deficit hyperactivity disorder|Intellectual disability & hearing loss|Intellectual disability & pervasive developmental disorder|Intellectual disability and autism|Intellectual disability, nonsyndromic |Intellectual disability, seizures, dysmorphisms & language delay|Growth retardation  |Epilepsy, myoclonic seizures & speech delay|Developmental disorder|Developmental disorder & attention deficit hyperactivity disorder|Developmental disorder, seizures & attention deficit hyperactivity disorder|Developmental/intellectual disability, hypotonia & dysmorphic features|Disorder of muscle, ligament & fascia|Encephalopathy  |Epilepsy  |Epilepsy with cognitive impairment / autism spectrum disorder|Epilepsy with focal seizures|Epilepsy, generalised |Intellectual disability, seizures, language delay & hypotonia|Language delay|Learning difficulties|Respiratory distress & sepsis|Respiratory distress syndrome|Schizophrenia |Schizophrenia, childhood onset |Schizophrenia, disorganised type|Seizures, generalized tonic-clonic & attention deficit hyperactivity disorder|Sensory integration disorder & attention deficit hyperactivity disorder|Speech delay & social communication difficulties|Tourette syndrome|Pervasive developmental disorder / hypotonia|Pervasive developmental disorder|Pervasive developmental delay / mental retardation, lack of coordination & hearing loss|Learning difficulties, ADHD & autism|Mental retardation|Mental retardation, autism, vertebral malformations|Mental retardation, Pitt-Hopkins-like|Microcephaly & mental retardation|Multiple congenital anomalies  |Multiple disabilities|Myoclonic epilepsy   |Neurodevelopmental disorder  |Vertebral anomalies|Developmental delay, speech delay & social communication difficulties|Attention deficit hyperactivity disorder |Autism spectrum disorder, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability & language delay|Autism spectrum disorder, intellectual disability, dysmorphisms, developmental delay & language delay|Autism spectrum disorder, intellectual disability, seizures & developmental delay|Autism spectrum disorder, intellectual disability, seizures, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability, seizures, dysmorphisms & language delay|Autism spectrum disorder, seizures, developmental delay & language delay|Autism, intellectual disability & attention deficit hyperactivity disorder|Autistic disorder|Autism spectrum disorder with developmental & speech delay|Autism spectrum disorder & seizures|Autism spectrum disorder & language delay|Autism |Autism & learning difficulties|Autism & mental retardation|Autism & seizures|Autism spectrum disorder|Autism spectrum disorder & attention deficit hyperactivity disorder|Autism spectrum disorder & developmental delay|Autism spectrum disorder & dysmorphic features|Autism spectrum disorder & intellectual disability|Behavioural problems|Congenital heart defect  |Craniofacial dysmorphism|Developmental delay & speech/motor delay|Developmental delay with early-onset epilepsy|Developmental delay, dysmorphic features & short stature|Developmental delay, epilepsy, autism|Developmental delay, language delay & hypotonia|Developmental delay, learning difficulties, ADHD|Developmental delay, microcephaly & behavioural problems|Developmental delay, pulmonic stenosis & autism spectrum disorder|Developmental delay, short stature and diaphragmatic hernia|Developmental delay, speech delay & microcephaly|Developmental delay & seizures|Developmental delay & seizure disorder|Cystic hygroma, hydrops & micrognathia|Cystic hygroma, shortened upper limbs & fetal demise|Developmental & speech delay|Developmental delay|Developmental delay / autism|Developmental delay & autism|Developmental delay & dysmorphic features|Developmental delay & epilepsy|Developmental delay & hypotonia|Developmental delay & multiple congenital anomalies	ICGC,
chr12	43044790	43044790	T	A	intergenic	LOC101927058,ADAMTS20	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25738695	-	EOPC-DE|1|202|0.00495	-	-	-,integument phenotype	-,-	COSMIC,ICGC,
chr4	79670555	79670555	A	C	intergenic	LINC01094,BMP2K	unknown	SNV	-	-	-	0.0001	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,High myopia, increased risk, association with	ICGC,
chr18	38536428	38536428	T	G	intergenic	LOC101927900,KC6	unknown	SNV	-	-	-	3.23e-05	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr15	22408035	22408035	A	G	intergenic	OR4N4,OR4N3P	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15257906	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr14	28867456	28867456	C	A	intergenic	LINC00645,FOXG1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1166522	-	LINC-JP|1|394|0.00254	-	-	-,integument phenotype	-,West syndrome |Rett-like syndrome|Rett syndrome|Refractory epilepsy & intellectual impairment|Microcephaly, mental retardation & thin genu of corpus callosum|Mental retardation, speech impairment & epilepsy|Mental retardation & speech impairment|Mental retardation & postnatal microcephaly|Mental retardation & callosum abnormalities|Mental retardation|Infantile spasms|Hemifacial microsomia|Generalized dystonia, athetosis and parkinsonism|Developmental delay, microcephaly & hypoplasia of the corpus callosum|Developmental delay, hypotonia, microcephaly & infantile spasms|Developmental delay & slow head growth|Agenesis of corpus callosum	COSMIC,ICGC,
chr6	86267769	86267769	G	A	exonic	SNX14	nonsynonymous	SNV	0.206	0.076	-	-	-	-	-	-	-	COSM1082183	UCEC|1|248|0.00403	UCEC-US|1|250|0.00400	-	-	-	-	COSMIC,TCGA,ICGC,
chrX	122855350	122855350	C	T	intronic	THOC2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Psychomotor retardation & cerebellar hypoplasia	ICGC,
chr11	17072780	17072780	C	T	upstream	OR7E14P	unknown	SNV	-	-	-	0.0074	rs533036736	-	0.00319489	-	-	-	-	PBCA-US|2|186|0.01075	-	-	-	-	ICGC,
chr4	45645254	45645254	T	A	intergenic	GNPDA2,GABRG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr4	34929159	34929159	T	G	intergenic	NONE,ARAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	ICGC,
chr13	21453227	21453227	A	T	intronic	XPO4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8543479	-	MALY-DE|1|241|0.00415	-	-	-	-	COSMIC,ICGC,
chr6	32754296	32754296	C	T	intergenic	HLA-DQB2,HLA-DOB	unknown	SNV	-	-	-	0.0033	rs117639543	-	0.0141773	-	-	-	-	LAML-KR|1|205|0.00488	-	-	-,-	-,-	ICGC,
chr8	134703984	134703984	T	C	intergenic	ST3GAL1,ZFAT	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16455884	-	LIRI-JP|1|258|0.00388	-	-	hematopoietic system phenotype,mortality/aging	-,Autoimmune thyroid disease, association with	COSMIC,ICGC,
chr7	65077119	65077119	C	T	ncRNA_intronic	LOC441242	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr4	119007420	119007420	C	G	intronic	NDST3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging	-	ICGC,
chr10	82683303	82683303	A	C	intergenic	SH2D4B,NRG3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,integument phenotype	-,Schizophrenia, association with |Increased ventrolateral PFC activation|Hirschsprung disease  	ICGC,
chr4	84986269	84986269	C	G	intergenic	AGPAT9,NKX6-1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23327296	-	MALY-DE|1|241|0.00415	-	-	-,mortality/aging	-,-	COSMIC,ICGC,
chr2	198415049	198415049	G	T	exonic	HSPE1-MOB4,MOB4	nonsynonymous	SNV	0.0	1.0	-	-	-	-	-	-	-	COSM6257681	-	LICA-CN|1|402|0.00249	-	-	-,-	-,Autism	COSMIC,ICGC,
chr2	3938737	3938737	C	T	intergenic	DCDC2C,LINC01304	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	79167752	79167752	G	T	intronic	ROBO1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Developmental dyslexia 	ICGC,
chr7	22702762	22702762	A	C	ncRNA_exonic	LOC401312	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-	-	ICGC,
chr10	109063402	109063402	G	C	intergenic	SORCS1,RNU6-53P	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN14996027	-	ESAD-UK|1|301|0.00332	-	-	other phenotype,-	Autism ,-	COSMIC,ICGC,
chr10	18852260	18852260	A	G	intronic	NSUN6	unknown	SNV	-	-	-	3.243e-05	rs865796597	-	-	-	-	COSN22132673	-	BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr7	40930053	40930053	T	C	intergenic	SUGCT,LINC01450	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr8	138668306	138668306	T	A	intergenic	KHDRBS3,FAM135B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17345640	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr11	26844065	26844065	G	T	intergenic	SLC5A12,FIBIN	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20486330	-	COCA-CN|1|321|0.00312	-	-	-,-	-,Schizophrenia  	COSMIC,ICGC,
chr16	67439969	67439969	G	A	intronic	ZDHHC1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr8	18799395	18799395	C	A	intronic	PSD3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	CLLE-ES|1|510|0.00196	-	-	-	-	ICGC,
chr15	37600039	37600039	G	A	intergenic	MEIS2,TMCO5A	unknown	SNV	-	-	-	0.3466	rs12917324	-	0.389377	-	-	-	-	LAML-KR|1|205|0.00488	-	-	-,-	Cleft palate & cardiac septum ,-	ICGC,
chr7	131535915	131535915	CC	TT	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr1	193271277	193271277	G	A	intergenic	CDC73,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16073135	-	PACA-CA|1|268|0.00373	-	-	integument phenotype,-	Potential protein deficiency|Parathyroid carcinoma/adenoma|Parathyroid carcinoma.|Parathyroid carcinoma|Parathyroid cancer|Parathyroid adenoma.|Parathyroid adenoma |Hyperparathyroidism, primary.|Hyperparathyroidism, primary|Hyperparathyroidism, isolated|Hyperparathyroidism-jaw tumour syndrome.|Hyperparathyroidism-jaw tumour syndrome,-	COSMIC,ICGC,
chr11	65273846	65273873	GTCTTTTTCAGGTAATAGCCTGCAGCTG	-	ncRNA_exonic	MALAT1	unknown	deletion	-	-	-	-	-	-	-	-	-	COSN19405072	-	-	-	-	-	-	COSMIC,
chrX	20730268	20730268	C	T	intergenic	RPS6KA3,CNKSR2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Mental retardation, non-specific|Intellectual disability, X-linked & Coffin-Lowry syndrome|Intellectual disability, X-linked|Coffin-Lowry syndrome|Autism,Intellectual disability, X-linked non-syndromic	ICGC,
chr4	164691246	164691246	A	C	intronic	MARCH1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25953684	-	ESAD-UK|1|301|0.00332	-	-	hematopoietic system phenotype	-	COSMIC,ICGC,
chr20	43301051	43301051	G	A	upstream	LINC01260	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr12	128285355	128285355	C	T	intergenic	LOC101927637,FLJ37505	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	ICGC,
chr2	96522867	96522867	C	G	intergenic	LINC00342,FAHD2CP	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20793462	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr1	55050823	55050823	G	C	intronic	ACOT11	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25923187	-	EOPC-DE|1|202|0.00495	-	-	immune system phenotype	-	COSMIC,ICGC,
chr10	106308379	106308379	C	A	intergenic	LOC101927523,SORCS3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17874252	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr1	25941966	25941966	G	A	intergenic	LDLRAP1,MAN1C1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26056950	-	ESAD-UK|1|301|0.00332	-	-	homeostasis/metabolism phenotype,-	Hypercholesterolaemia|Hypercholesterolaemia, autosomal recessive,-	COSMIC,ICGC,
chr5	58813966	58813966	T	C	intronic	PDE4D	unknown	SNV	-	-	-	0.0184	rs74909354	-	0.0439297	-	0.051	-	-	LAML-KR|1|205|0.00488	-	-	mortality/aging	Psychomotor retardation, coarse facies & ocular anomalies|Intellectual disability syndrome with low body mass index & facial features|Acrodysostosis	ICGC,
chr3	140947737	140947737	G	A	intergenic	SPSB4,PXYLP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	6397859	6397859	G	A	intergenic	MED10,UBE2QL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Renal cell carcinoma	ICGC,
chr1	175468321	175468321	G	A	intronic	TNR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	nervous system phenotype	Schizophrenia, association with  |Intellectual disability  	ICGC,
chr4	120129976	120129976	G	A	intergenic	MYOZ2,USP53	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Cardiomyopathy, hypertrophic|Potential protein deficiency|Schizophrenia,Cantu syndrome	ICGC,
chr8	136502391	136502391	A	C	intronic	KHDRBS3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27067908	-	ESAD-UK|2|301|0.00664	-	-	-	-	COSMIC,ICGC,
chrX	114927469	114927469	G	A	intergenic	PLS3,AGTR2	unknown	SNV	-	-	-	4.606e-05	rs782204159	-	0.000264901	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	Osteoporosis, X-linked with fractures,Reduced mRNA splicing efficiency|Preeclampsia, association with|Potential protein deficiency|Mental retardation, X-linked|Mental retardation, pervasive developmental disorder, and epilepsy |Left ventricular hypertrophy, association with|Increased glomerular filtration rate, in males|Higher left ventricle mass index in HCM, association	ICGC,
chr8	79604761	79604761	G	C	intronic	ZC2HC1A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr2	164120599	164120599	-	T	intergenic	KCNH7,FIGN	unknown	insertion	-	-	-	0.0001	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332,PACA-AU|1|391|0.00256	-	-	-,integument phenotype	-,-	ICGC,
chr1	37442908	37442908	C	T	intronic	GRIK3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	nervous system phenotype	Developmental delay  |Schizophrenia|Schizophrenia, association with	ICGC,
chr8	110132311	110132311	T	G	downstream	TRHR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	reproductive system phenotype	Essential hypertension, association with|Isolated central hypothyroidism|Schizophrenia	ICGC,
chr13	93669125	93669125	C	A	intergenic	GPC5,GPC6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	Spina bifida  ,Omodysplasia|Pancreatic cancer 	ICGC,
chr10	5232542	5232542	G	A	intergenic	AKR1CL1,AKR1C4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Colorectal cancer |Disorder of sexual development, in males|Reduced activity|Reduced enzyme activity with DAUN|Serum progesterone levels in bipolar disorder, association with	ICGC,
chrX	149926508	149926508	G	A	intronic	MTMR1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6493760	-	LIRI-JP|1|258|0.00388	-	-	normal phenotype	-	COSMIC,ICGC,
chr15	48654825	48654825	C	T	intergenic	DUT,FBN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	-,Progeroid fibrillinopathy|Progeroid facial features & lipodystrophy|Potential protein deficiency|Phenotype modifier|Non-SGS marfanoid craniosynostosis|Mitral valve prolapse|Marfan syndrome, neonatal progeroid|Marfan syndrome, neonatal|Marfan syndrome, incomplete|Marfan syndrome with lipodystrophy|Scleroderma, protection against, association with |Shprintzen-Goldberg syndrome|Stiff skin syndrome|Weill-Marchesani syndrome with thoracic aortic disease|Weill-Marchesani syndrome|Thoracic aortic aneurysms and dissections.|Thoracic aortic aneurysms & dissections, association with |Thoracic aortic aneurysm or dissection|Thoracic aortic aneurysm and dissections|Thoracic aortic aneurysm  |Tall stature, association with|Tall stature and ectopia lentis|Stiff skin syndrome with ectopia lentis|Marfan syndrome with intracranial hypertension|Acromicric dysplasia|Ectopia lentis, isolated form|Ectopia lentis, isolated|Ectopia lentis and marfanoid habitus without cardiovascular dis|Ectopia lentis & aortic aneurysm / dissection|Ectopia lentis|Bilateral lens dislocation and glaucoma|Bicuspid aortic valve |Aortic dilation|Aortic aneurysm, thoracic|Aortic aneurysm|Essential hypertension, decreased risk|Fibrillinopathy|Marfan syndrome & schizophrenia|Marfan syndrome|Marfan syndrom with predominant ectopia lentis|Lens luxation and striae|Kyphoscoliosis|Idiopathic arthritis & mitral valve prolapse|Geleophysic dysplasia|Geleophysic / acromicric dysplasia|Furlong syndrome|Fibrillinopathy, type 1.|Fibrillinopathy, type 1	ICGC,
chr6	83123630	83123630	G	A	intergenic	TPBG,UBE3D	unknown	SNV	-	-	-	3.23e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	-,-	ICGC,
chr4	189333318	189333318	G	A	intergenic	TRIML1,LINC01060	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr17	33423651	33423651	G	A	ncRNA_intronic	RAD51L3-RFFL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr1	73591659	73591659	C	A	intergenic	NEGR1,LINC01360	unknown	SNV	-	-	-	3.232e-05	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	behavior/neurological phenotype,-	Obesity, association with|Dyslexia |Body mass index, association with|Attention deficit hyperactivity disorder,-	ICGC,
chr19	44934249	44934249	A	G	exonic	ZNF229	nonsynonymous	SNV	-	0.04	4.065e-06	-	rs767037153	8.282e-06	-	-	-	COSM997964	UCEC|1|248|0.00403	UCEC-US|1|250|0.00400	-	-	-	-	COSMIC,TCGA,ICGC,
chr2	32322772	32322772	T	C	intronic	SPAST	unknown	SNV	-	-	-	3.533e-05	-	-	-	-	-	COSN9370611	-	OV-AU|1|93|0.01075	-	-	reproductive system phenotype	Upper motor neuron syndrome, adult onset|Spastic paraplegia, silver syndrome type|Spastic paraplegia, autosomal dominant .|Spastic paraplegia, autosomal dominant|Spastic paraplegia 4|Spastic paraplegia|Spastic paraparesis|Potential protein deficiency|Phenotype modifier, association with|Autism|Amyotrophic lateral sclerosis	COSMIC,ICGC,
chr19	54215387	54215387	C	T	upstream	MIR517A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr7	69175269	69175269	T	C	intronic	AUTS2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	Speech & language disorder, tonic-clonic movements & pes planus|Myoclonic epilepsy, juvenile |Mental retardation|Intellectual disability, syndromic  |Epilepsy, nonlesional |Developmental delay, intellectual disability, short stature, ptosis & dysmorphism|Developmental delay  |Autism spectrum disorder  |Autism	ICGC,
chr7	144852661	144852661	G	T	intergenic	TPK1,CNTNAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,integument phenotype	Thiamine pyrophosphokinase deficiency|Leigh-like disease|Colorectal cancer, increased risk, association with |Autism,Gilles de la Tourette syndrome|Intellectual disability  |Learning disability & speech problems|Mental retardation |Mental retardation, Pitt-Hopkins-like|Multiple congenital anomalies  |Seizures, neonatal |Speech delay  |Stuttering |Epileptic encephalopathy  |Epilepsy and schizophrenia|Autism|Autism spectrum disorder |Autism spectrum disorder, modifier of|Childhood apraxia of speech|Cortical dysplasia-focal epilepsy syndrome|Developmental and/or speech and/or behavioural problems|Developmental delay  |Developmental delay & dysmorphic features|Dyslexia 	ICGC,
chr7	155844520	155844520	T	C	intergenic	LOC389602,LOC285889	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	-,-	ICGC,
chr3	166529716	166529716	C	T	intergenic	BCHE,ZBBX	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Serum cholinesterase deficiency|Potential protein deficiency|Obesity and triglyceride levels, association with|Hypocholinesterasaemia|Fronto-temporal dementia, association with|Cholinesterasaemia|Butyrylcholinesterase variant|Butyrylcholinesterase deficiency|Addiction to crack cocaine, association with|Acholinesterasaemia,-	ICGC,
chr10	6194255	6194255	C	T	intronic	PFKFB3	unknown	SNV	-	-	-	9.842e-05	rs187071236	-	-	-	-	-	-	CMDI-UK|1|136|0.00735	-	-	mortality/aging	-	ICGC,
chr13	56158908	56158912	TATCT	-	intergenic	MIR5007,PRR20A	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr17	22198170	22198170	G	A	intergenic	MTRNR2L1,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	ICGC,
chr14	38940231	38940231	C	T	intergenic	CLEC14A,LINC00639	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chrX	4075620	4075620	C	T	intergenic	LOC389906,LOC101928201	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr3	149801505	149801505	G	T	intergenic	LOC646903,LINC01213	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	ICGC,
chr8	78104795	78104795	C	A	intergenic	PEX2,PKIA	unknown	SNV	-	-	-	-	rs528794648	-	0.000199681	-	-	COSN6363724	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging,normal phenotype	Zellweger syndrome|Refsum disease, infantile|Peroxisome biogenesis disorder|Cerebellar ataxia, autosomal recessive,-	COSMIC,ICGC,
chr6	103069971	103069971	G	A	intergenic	GRIK2,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	behavior/neurological phenotype,-	Mental retardation, non-syndromic, autosomal recessive,-	ICGC,
chr4	20009839	20009839	A	T	intergenic	LCORL,SLIT2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,mortality/aging	-,Schizophrenia  	ICGC,
chr4	36669515	36669515	G	A	intergenic	DTHD1,MIR4801	unknown	SNV	-	-	-	0.0533	rs79959209	-	0.0626997	-	0.022	-	-	LAML-KR|1|205|0.00488	-	-	-,-	Leber congenital amaurosis with myopathy,-	ICGC,
chr8	85348837	85348837	G	A	intronic	RALYL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr14	89357843	89357843	G	A	intergenic	TTC8,FOXN3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	mortality/aging,-	Bardet-Biedl syndrome ,-	ICGC,
chr4	72065835	72065835	C	T	intronic	SLC4A4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Reduced transport activity|Proximal renal tubular acidosis|Migraine 	ICGC,
chr18	7197077	7197077	T	C	intergenic	LAMA1,LRRC30	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	High myopia, increased risk, association with|Intellectual disability  |Pancreatic cancer ,-	ICGC,
chr6	130720806	130720806	T	A	intronic	TMEM200A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr19	31396947	31396947	G	C	intergenic	ZNF536,TSHZ3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,integument phenotype	Schizophrenia,-	ICGC,
chr8	75197495	75197495	C	T	intronic	JPH1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6362698	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging	-	COSMIC,ICGC,
chr16	25268403	25268403	C	G	exonic	ZKSCAN2	nonsynonymous	SNV	0.029	0.597	-	-	-	-	-	-	-	COSM6143992	LUAD|1|543|0.00184	-	-	-	-	-	COSMIC,TCGA,
chr3	28654002	28654002	-	T	ncRNA_intronic	LINC00693	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	-	ICGC,
chr15	22447344	22447344	C	T	intergenic	OR4N3P,REREP3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr9	25536757	25536757	G	A	intergenic	IZUMO3,TUSC1	unknown	SNV	-	-	-	0.0002	rs777003627	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr18	2436047	2436047	G	A	intergenic	LINC00470,METTL4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	53031613	53031613	C	T	intergenic	NDUFS4,ARL15	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Mitochondrial respiratory disease|Leigh syndrome|Complex I deficiency|Complex 1 deficiency|Complex 1 and 3 deficiency, combined,-	ICGC,
chr22	21065636	21065636	G	A	exonic	PI4KA	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM3770160	-	-	-	-	integument phenotype	-	COSMIC,COSMIC,
chr9	110176704	110176704	GG	AA	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr13	65969009	65969009	C	G	intergenic	OR7E156P,PCDH9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr19	47972410	47972410	-	TGTGTG	intronic	SLC8A2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	behavior/neurological phenotype	-	ICGC,
chr15	78393675	78393675	G	T	exonic	SH2D7	synonymous	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr19	15272333	15272333	G	A	exonic	NOTCH3	nonsynonymous	SNV	0.732	0.001	4.645e-06	-	-	-	-	-	-	COSM4502323	-	-	-	-	integument phenotype	Ischemic stroke, protection against|Migraine with aura and white matter abnormalities|Myofibromatosis, infantile|Periodontal disease, association with|Potential protein deficiency|Pulmonary arterial hypertension|Spontaneous cerebellar haemorrhage.|White matter lesions |Ischemic stroke|Colorectal cancer |Alzheimer's disease |Amyotrophic lateral sclerosis and frontotemporal lobar degeneration with CADASIL|Autism|Balo concentric sclerosis|CADASIL|CADASIL with haemorrhagic strokes|CADASIL with intracerebral haemorrhage |CADASIL with varicose veins	COSMIC,COSMIC,
chr2	155118575	155118575	C	T	intronic	GALNT13	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	normal phenotype	-	ICGC,
chr21	15049379	15049379	G	A	intergenic	POTED,MIR8069-1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	ICGC,
chr19	21189472	21189472	G	A	intergenic	ZNF85,ZNF430	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN14635110	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	COSMIC,COSMIC,ICGC,
chr4	116509009	116509009	G	A	intergenic	NDST4,MIR1973	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr3	55695860	55695860	A	-	intronic	ERC2	unknown	deletion	-	-	-	0.0008	-	-	-	-	-	-	-	MALY-DE|2|241|0.00830	-	-	vision/eye phenotype	-	ICGC,
chr16	80989362	80989362	C	T	intergenic	CDYL2,CMC2	unknown	SNV	-	-	-	0.0002	-	-	-	-	-	COSN9653538	-	RECA-EU|1|422|0.00237	-	-	-,-	-,-	COSMIC,ICGC,
chr5	161164740	161164740	C	T	intergenic	GABRA6,GABRA1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,mortality/aging	Idiopathic epilepsy, generalised ,Myoclonic epilepsy, juvenile|Epileptic encephalopathy  |Epilepsy, idiopathic generalised  |Epilepsy, idiopathic  |Dravet syndrome   |Childhood absence epilepsy|Altered promoter activity	ICGC,
chr3	24212622	24212622	T	A	ncRNA_intronic	LOC101927854	unknown	SNV	-	-	-	0.2537	rs2683528	-	0.279752	-	0.341	-	-	ESAD-UK|1|301|0.00332,LAML-KR|2|205|0.00976	-	-	-	-	ICGC,
chr16	11471726	11471726	T	C	intergenic	RMI2,LOC101927131	unknown	SNV	-	-	-	0.1778	rs73501115	-	0.160543	-	0.174	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr16	10744478	10744478	C	A	intronic	TEKT5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5404416	-	LUSC-KR|1|170|0.00588,LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr11	49636016	49636016	T	A	ncRNA_intronic	LOC440040	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7011376	-	PACA-AU|1|391|0.00256	-	-	-	-	COSMIC,ICGC,
chr3	67667833	67667833	G	A	intronic	SUCLG2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr3	109035151	109035151	G	A	UTR5	DPPA2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	mortality/aging	-	ICGC,
chr16	63210267	63210267	G	T	intergenic	CDH8,CDH11	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15815507	-	LIRI-JP|1|258|0.00388	-	-	integument phenotype,integument phenotype	Learning disability  |Autism & learning disability ,-	COSMIC,ICGC,
chr18	19888187	19888187	C	T	intergenic	GATA6,CTAGE1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,-	Heart defects and diabetes, permanent neonatal|Pancreatic agenesis|Pancreatic agenesis & congenital heart defects|Pancreatic hypoplasia & diabetes|Persistent truncus arteriosus|Tetralogy of Fallot|Truncus arteriosus|Ventricular septal defect|Glaucoma, primary congenital|Diabetes with pancreatic agenesis and heart defects|Diabetes with pancreatic agenesis|Diabetes mellitus, permanent neonatal  |Diabetes|Congenital heart disease & renal abnormalities|Congenital heart disease |Congenital diaphragmatic hernia with tetrallogy of Fallot|Congenital diaphragmatic hernia|Atrioventricular septum defects|Atrial fibrillation,-	ICGC,
chr2	229402804	229402804	C	T	intergenic	SPHKAP,PID1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,Anorectal malformation	ICGC,
chr1	182442409	182442409	C	T	intronic	RGSL1	unknown	SNV	-	-	-	0.0001	rs755844914	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr5	34755685	34755685	T	C	intronic	RAI14	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-	-	ICGC,
chr5	143086245	143086245	C	A	intergenic	MIR5197,HMHB1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr7	82384496	82384496	C	T	UTR3	PCLO	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Bipolar disorder, association with 	ICGC,
chr3	167974423	167974423	C	A	ncRNA_intronic	EGFEM1P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-	-	ICGC,
chr19	18274595	18274595	G	A	intronic	PIK3R2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	cardiovascular system phenotype	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome	ICGC,
chr1	185763822	185763822	C	T	intronic	HMCN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	RECA-EU|1|422|0.00237	-	-	-	Macular degeneration, age related|Stargardt disease 	ICGC,
chr6	147935490	147935490	-	G	intergenic	SAMD5,SASH1	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN14703782	-	-	-	-	-,-	-,-	COSMIC,
chr1	108625043	108625043	G	T	intergenic	VAV3-AS1,SLC25A24	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25914040	-	EOPC-DE|1|202|0.00495	-	-	-,-	-,-	COSMIC,ICGC,
chr4	30224050	30224050	A	T	intergenic	MIR4275,PCDH7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr11	25619978	25619978	G	T	intergenic	LUZP2,ANO3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6999828	-	PACA-AU|1|391|0.00256	-	-	normal phenotype,-	Anorectal malformation,Craniocervical dystonia|Dystonia, primary torsion	COSMIC,ICGC,
chr1	249190970	249190970	G	A	intergenic	ZNF692,PGBD2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr13	110383100	110383100	C	T	downstream	LINC00676	unknown	SNV	-	-	-	0.0001	rs568228782	-	0.000199681	-	-	COSN8774362	-	OV-AU|1|93|0.01075	-	-	-	-	COSMIC,ICGC,
chr12	53855597	53855597	G	C	intronic	PCBP2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9563636	-	OV-AU|1|93|0.01075	-	-	-	-	COSMIC,ICGC,
chr2	173916410	173916410	G	C	exonic	RAPGEF4	nonsynonymous	SNV	0.119	0.099	-	-	-	-	-	-	-	COSM5964931	-	BRCA-KR|1|50|0.02000	-	-	endocrine/exocrine gland phenotype	Autism	COSMIC,COSMIC,ICGC,
chr3	129077954	129077954	T	A	intergenic	H1FX-AS1,RPL32P3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr3	96418379	96418379	C	T	intergenic	MIR8060,EPHA6	unknown	SNV	-	-	-	0.0002	rs552611936	-	0.000798722	-	0.007	-	-	MELA-AU|1|183|0.00546	-	-	-,behavior/neurological phenotype	-,Alzheimer disease  	ICGC,
chr7	21021137	21021137	G	A	intergenic	RPL23P8,SP4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,mortality/aging	-,-	ICGC,
chr4	178472443	178472443	C	T	intergenic	AGA,LINC01098	unknown	SNV	-	-	-	0.1488	rs72704985	-	0.139577	-	0.188	-	-	ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488	-	-	integument phenotype,-	Aspartylglucosaminuria,-	ICGC,
chr3	162260761	162260761	A	T	intergenic	OTOL1,LINC01192	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr13	44159752	44159752	G	A	intronic	ENOX1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Myasthenia gravis, adult-onset autoimmune	ICGC,
chr3	31243856	31243856	T	C	intergenic	GADL1,STT3B	unknown	SNV	-	-	-	0.1845	rs9834554	-	0.280152	-	0.145	-	-	ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488	-	-	-,-	-,Congenital disorder of glycosylation  |Schizophrenia	ICGC,
chr12	69512920	69512920	C	T	intergenic	CPM,CPSF6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr15	82312862	82312862	G	A	intergenic	LOC101929655,MEX3B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr20	13217766	13217766	C	T	intronic	ISM1	unknown	SNV	-	-	-	0.1587	rs6041969	-	0.190495	-	0.167	-	-	LAML-KR|1|205|0.00488	-	-	-	-	ICGC,
chr5	2751568	2751568	G	A	UTR5	IRX2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	normal phenotype	-	ICGC,
chr6	70915063	70915063	C	G	intronic	COL19A1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20670336	-	BRCA-EU|1|569|0.00176	-	-	integument phenotype	Amyotrophic lateral sclerosis  	COSMIC,ICGC,
chr15	55107302	55107302	C	T	intergenic	UNC13C,RSL24D1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,-	Developmental delay  ,-	ICGC,
chr1	148668658	148668658	T	G	ncRNA_intronic	NBPF25P	unknown	SNV	-	-	-	0	-	-	-	-	-	-	-	UTCA-FR|1|20|0.05000	-	-	-	-	ICGC,
chr1	37498094	37498094	GG	AA	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr3	49220462	49220462	G	A	intronic	C3orf84	unknown	SNV	-	-	-	3.231e-05	rs550873728	-	0.000199681	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr7	88993292	88993292	C	T	intergenic	ZNF804B,STEAP2-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	19287496	19287496	C	T	intergenic	LCORL,SLIT2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|3|183|0.01639	-	-	-,mortality/aging	-,Schizophrenia  	ICGC,
chr1	210274903	210274903	A	G	intronic	SYT14	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Cerebral atrophy, macrocephaly seizures & developmental delay|Spinocerebellar ataxia with psychomotor retardation	ICGC,
chr1	55367108	55367108	G	A	intergenic	DHCR24,TMEM61	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Desmosterolosis,-	ICGC,
chr15	37461711	37461711	G	A	intergenic	MEIS2,TMCO5A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Cleft palate & cardiac septum ,-	ICGC,
chr2	69225490	69225490	A	G	intergenic	GKN1,ANTXR1	unknown	SNV	-	-	-	0.0173	rs77196358	-	0.0397364	-	0.014	-	-	LAML-KR|1|205|0.00488	-	-	-,mortality/aging	-,Autism|GAPO syndrome|Haemangioma, infantile	ICGC,
chr14	23171626	23171626	C	T	intergenic	ABHD4,OXA1L	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	96970101	96970101	G	T	intronic	EPHA6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	behavior/neurological phenotype	Alzheimer disease  	ICGC,
chr4	130390282	130390282	C	T	intergenic	C4orf33,LOC101927282	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	24764107	24764107	C	A	intronic	NIPAL3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6032046	-	LIRI-JP|1|258|0.00388	-	-	hematopoietic system phenotype	Schizophrenia	COSMIC,ICGC,
chr8	104227383	104227383	C	-	intronic	BAALC	unknown	deletion	-	-	-	6.469e-05	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312,GACA-CN|1|123|0.00813,LIRI-JP|1|258|0.00388	-	-	-	Increased expression  	ICGC,
chr5	25212885	25212885	A	G	intergenic	LOC340107,CDH9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr2	6607581	6607581	G	A	intergenic	LINC01247,LINC01246	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	ICGC,
chr12	105809345	105809345	T	C	intergenic	C12orf75,CASC18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	ICGC,
chr7	122925876	122925876	C	T	intergenic	SLC13A1,IQUB	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17558808	-	ESAD-UK|1|301|0.00332	-	-	skeleton phenotype,-	Schizophrenia,-	COSMIC,ICGC,
chr12	131244386	131244386	A	G	intergenic	RIMBP2,STX2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,hematopoietic system phenotype	-,-	ICGC,
chr1	7564011	7564011	G	A	intronic	CAMTA1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Ataxia, non-progressive congenital|Developmental delay & learning disability|Impaired episodic memory performance, association with	ICGC,
chrX	141328450	141328450	C	T	intergenic	MAGEC2,SPANXN4	unknown	SNV	-	-	-	0.2888	rs7060449	-	0.261722	-	0.138	-	-	LAML-KR|1|205|0.00488	-	-	-,-	-,-	ICGC,
chr7	151293784	151293784	G	A	intronic	PRKAG2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-	Wolff-Parkinson-White syndrome|Ventricular pre-excitation & cardiac hypertrophy|Sinus bradycardia, short PR interval, right bundle bunch block|PRKAG2 cardiac syndrome|Left ventricular hypertrophy|Hypertrophy, moderate|Hypertrophy, left ventricular|Glucose/Lipid metabolism,  association with|Cognitive impairment, association with|Cardiomyopathy, hypertrophic|Cardiomyopathy|Cardiac glycogenosis|Breast cancer, ER negative, association with 	ICGC,
chr6	5223994	5223994	G	A	intronic	LYRM4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Cognitive deficit in schizophrenia, association with|Gyral pattern anomaly with speech and language disorder|OXPHOS deficiency, combined	ICGC,
chr9	1456068	1456068	T	G	intergenic	DMRT2,SMARCA2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	mortality/aging,integument phenotype	-,Short stature|Schizophrenia, association with   |Nicholaides-Baraitser syndrome|Multiple congenital anomalies  |Lung cancer, association with|Intellectual disabilty, short stature and dysmorphisms|Hepatocellular carcinoma, in smokers, association with.|Hepatocellular carcinoma, association with.|Developmental delay & dysmorphic features|Developmental delay & autistic features|Developmental delay  |Coffin-Siris syndrome	ICGC,
chr1	69060103	69060103	C	T	intergenic	DEPDC1-AS1,LRRC7	unknown	SNV	-	-	-	9.698e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,-	ICGC,
chr16	61502804	61502804	C	T	intergenic	LOC729159,CDH8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,integument phenotype	-,Learning disability  |Autism & learning disability 	ICGC,
chr16	12548192	12548192	C	T	intronic	SNX29	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr12	128339179	128339179	G	C	intergenic	LOC101927637,FLJ37505	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr1	63887781	63887801	TATATATAAATATATAAATAA	-	intronic	ALG6	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	Congenital disorder of glycosylation 1a, modifier of|Congenital disorder of glycosylation 1c|Congenital disorder of glycosylation 1c, mild|Congenital disorder of glycosylation 1c, modifier of	ICGC,
chr20	49854173	49854173	T	-	intergenic	KCNG1,NFATC2	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	PACA-AU|1|391|0.00256	-	-	-,hematopoietic system phenotype	-,Developmental delay, facial dysmorphism & skeletal anomalies	ICGC,
chr1	59088625	59088625	A	G	intergenic	TACSTD2,MYSM1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype,integument phenotype	Corneal dystrophy, gelatinous drop-like,Anaemia, transfusion-dependent, thrombocytopaenia, and low NK- and B- cell counts	ICGC,
chr2	90209163	90209163	C	T	intergenic	MIR4436A,LOC654342	unknown	SNV	-	-	-	0.0005	rs563574805	-	0.000399361	-	0.007	COSN16583846	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	COSMIC,ICGC,
chr3	121273930	121273930	-	AAAAAG	intergenic	POLQ,ARGFX	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|3|67|0.04478	-	-	hematopoietic system phenotype,-	Potential protein deficiency,-	ICGC,
chr4	9671055	9671055	G	A	intergenic	MIR548I2,DRD5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,vision/eye phenotype	-,Schizophrenia  |Receptor variant|Receptor deficiency	ICGC,
chr18	54802199	54802199	C	T	intergenic	LINC-ROR,BOD1L2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr13	19605788	19605788	C	T	intergenic	LINC00442,RNU6-52P	unknown	SNV	-	-	-	-	rs552228940	-	0.000798722	-	-	COSN23498167	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr3	83229581	83229581	G	A	intergenic	GBE1,LINC00971	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Potential protein deficiency|Polyglucosan body disease, relapsing-remitting form|Polyglucosan body disease, adult|Lethal multiple pterygium syndrome|Glycogen storage disease 4, non-lethal neuromuscular|Glycogen storage disease 4, neonatal|Glycogen storage disease 4|Autism spectrum disorder|Adult polyglucosan body disease,-	ICGC,
chr19	30057676	30057676	A	G	intergenic	VSTM2B,POP4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7122262	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	COSMIC,ICGC,
chr15	87726210	87726210	G	C	intergenic	AGBL1,LINC00052	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BOCA-UK|1|130|0.00769	-	-	-,-	Fuchs corneal dystrophy, late-onset ,-	ICGC,
chr5	146728212	146728212	G	T	intronic	STK32A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	homeostasis/metabolism phenotype	Potential protein deficiency	ICGC,
chr11	97872793	97872793	A	-	intergenic	MIR7976,CNTN5	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,behavior/neurological phenotype	-,-	ICGC,
chr14	106412990	106412990	T	A	intergenic	KIAA0125,ADAM6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr1	172561847	172561847	G	A	intronic	SUCO	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging	-	ICGC,
chr9	106264615	106264615	A	T	intergenic	LOC101928496,LOC101928523	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5117515	-	LINC-JP|1|394|0.00254	-	-	-,-	-,-	COSMIC,ICGC,
chr8	4933985	4933985	C	T	intergenic	CSMD1,LOC100287015	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Schizophrenia, association with |Hyperinsulinism|Autism|Attention deficit hyperactivity disorder ,-	ICGC,
chr16	63283280	63283280	G	C	intergenic	CDH8,CDH11	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9650492	-	RECA-EU|1|422|0.00237	-	-	integument phenotype,integument phenotype	Learning disability  |Autism & learning disability ,-	COSMIC,ICGC,
chr1	222561834	222561834	G	A	intergenic	DUSP10,HHIPL2	unknown	SNV	-	-	-	6.457e-05	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	hematopoietic system phenotype,-	-,Potential protein deficiency	ICGC,
chr7	4585383	4585383	C	T	intergenic	SDK1,FOXK1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17767669	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,Autism	COSMIC,ICGC,
chr14	53911356	53911356	C	T	intergenic	LOC101927620,MIR5580	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr12	60991067	60991067	C	T	intergenic	SLC16A7,FAM19A2	unknown	SNV	-	-	-	6.458e-05	rs754172467	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	Autism spectrum disorder,-	ICGC,
chr6	64723992	64723992	C	T	intronic	EYS	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19000715	-	CLLE-ES|1|510|0.00196	-	-	-	Cone-rod dystrophy, autosomal recessive.|Leber congenital amaurosis|Retinitis pigmentosa|Retinitis pigmentosa, autosomal recessive |Retinitis pigmentosa, autosomal recessive/Leber congenital amaurosis	COSMIC,ICGC,
chr2	36483823	36483823	G	A	intergenic	NONE,LOC100288911	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr11	106962308	106962308	C	A	intergenic	GUCY1A2,CWF19L2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15883325	-	PACA-CA|1|268|0.00373	-	-	hematopoietic system phenotype,-	-,-	COSMIC,COSMIC,ICGC,
chr9	93189464	93189464	A	C	ncRNA_intronic	LOC101927873	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CN|1|65|0.01538	-	-	-	-	ICGC,
chr11	121805071	121805071	C	T	intergenic	SORL1,MIR100HG	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	other phenotype,-	Alzheimer disease, association with|Alzheimer disease, early onset,-	ICGC,
chr3	183914524	183914524	G	A	intergenic	ABCF3,VWA5B2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-,-	-,-	ICGC,
chr2	141107192	141107192	A	C	intronic	LRP1B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-AU|1|391|0.00256	-	-	mortality/aging	Schizophrenia   	ICGC,
chr9	78177819	78177819	C	T	ncRNA_intronic	MIR548H3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr19	52495259	52495259	-	A	UTR3	ZNF615	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN20808246	-	-	-	-	-	-	COSMIC,
chr16	66555453	66555453	G	A	intronic	TK2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9440423	-	OV-AU|1|93|0.01075	-	-	integument phenotype	Progressive external ophthalmoplegia|Mitochondrial DNA depletion syndrome, late onset|Mitochondrial DNA depletion syndrome with hearing loss|Mitochondrial DNA depletion syndrome|Epileptic encephalomyopathy	COSMIC,ICGC,
chr7	158245786	158245786	C	T	intronic	PTPRN2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	homeostasis/metabolism phenotype	-	ICGC,
chr3	20816544	20816544	G	A	intergenic	LOC101927829,VENTXP7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	-,-	ICGC,
chr2	163459287	163459287	A	C	intronic	KCNH7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	-	ICGC,
chr11	133776096	133776096	G	C	intergenic	MIR4697HG,IGSF9B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|2|569|0.00351	-	-	-,-	-,-	ICGC,
chr4	137000604	137000604	T	A	intergenic	LINC00613,PCDH18	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8371922	-	MALY-DE|1|241|0.00415	-	-	-,-	-,Intellectual disability  	COSMIC,ICGC,
chr12	114435203	114435203	G	C	intergenic	RBM19,TBX5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging,mortality/aging	-,Atrial septal defects & postaxial hexodactyly|Congenital heart disease |Congenital heart disease.|Holt-Oram syndrome|Holt-Oram syndrome & ulnar-mammary syndrome	ICGC,
chr13	32953644	32953654	AAGATTCAGGT	-	exonic	BRCA2	nonframeshift	deletion	-	-	-	-	rs276174915	-	-	-	-	-	-	-	Hereditary_cancer-predisposing_syndrome|Breast-ovarian_cancer,_familial_2|not_provided	-	integument phenotype	Ovarian cancer.|Ovarian cancer |Ovarian / peritoneal carcinoma|Oesophageal squamous cell carcinoma|Oesophageal carcinoma  |Oesophageal cancer, association with|Ocular melanoma|Medulloblastoma |Male BC risk|Lung cancer  |Lunc cancer|Liver cancer|Ovarian carcinoma|Ovarian insufficiency, primary |Reactive lymphoid hyperplasia |Prostate cancer.|Prostate cancer, high-grade|Prostate cancer |Promyelocytic leukemia |Primordial dwarfism|Potential protein deficiency|Poorer survival in prostate cancer patients|Peritoneal carcinoma|Pancreatic cancer |Pancreatic adenocarcinoma|Triple-negative breast cancer|Leukemia risk |Breast cancer, association with|Breast cancer risk, association with|Breast cancer in radiographers, decreased risk|Breast cancer |Breast and/or ovarian cancer.|Breast and/or ovarian cancer |Breast and colorectal cancer|Autism|Altered transcription factor binding|Altered splicing  |Altered function|Breast cancer, early-onset|Breast cancer, early-onset.|Breast cancer, male|Intraperitoneal cancer|Fanconi anaemia D1|Fanconi anaemia|Fallopian tube carcinoma|Fallopian tube cancer|Ductal carcinoma in situ|Breast, gastric and lover cancer.|Breast cancer.|Breast cancer, triple-negative|Breast cancer, susceptibility to, association with|Breast cancer, sporadic, protection against	ClinVar,
chr2	104539281	104539281	C	T	intergenic	TMEM182,LOC100287010	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|2|100|0.02000,MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr8	311186	311186	G	C	intergenic	ZNF596,FAM87A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN14624271	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	COSMIC,COSMIC,COSMIC,COSMIC,ICGC,
chr18	50864803	50864803	C	T	intronic	DCC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Altered p53 transactivation|Colorectal cancer, risk, association with |Mirror movements, congenital	ICGC,
chr6	66180522	66180522	G	A	intronic	EYS	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	Cone-rod dystrophy, autosomal recessive.|Leber congenital amaurosis|Retinitis pigmentosa|Retinitis pigmentosa, autosomal recessive |Retinitis pigmentosa, autosomal recessive/Leber congenital amaurosis	ICGC,
chr18	63489799	63489800	AC	-	intronic	CDH7	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	-	ICGC,
chr14	80543749	80543749	A	T	intergenic	NRXN3,DIO2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,digestive/alimentary phenotype	Alcohol dependence, association with|Autism spectrum disorder  ,Symptomatic osteoarthritis, susceptibility to|Reduced serum thyroxine|Insulin resistance, association with|Insulin resistance in type 2 diabetes, association with|Hypertension, increased risk|Graves' disease, association with.|Diabetes, type 2, association with|Diabetes mellitus, type 2, early-onset, association with.|Delayed triiodothyronine secretion, association with|Altered hypothalamus-pituitary-thyroid axis set point, association with|Acute lung injury, sepsis-associated, protection against	ICGC,
chr14	105800194	105800194	C	T	intronic	PACS2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	-	ICGC,
chr7	85571625	85571625	T	A	intergenic	SEMA3D,GRM3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15732583	-	LIRI-JP|1|258|0.00388	-	-	-,behavior/neurological phenotype	Total anomalous pulmonary venous connection|Tetralogy of Fallot|Hirschsprung disease   ,Schizophrenia, association with|Major depressive disorder, association with	COSMIC,ICGC,
chrX	18361663	18361663	G	A	intronic	SCML2	unknown	SNV	-	-	-	0.0005	rs748484834	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr6	56431882	56431882	G	A	ncRNA_intronic	RNU6-71P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chrX	103655696	103655696	G	A	intergenic	ESX1,IL1RAPL2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	cardiovascular system phenotype,-	-,-	ICGC,
chr15	48284849	48284849	-	GTAAAGAA	intergenic	LOC101928442,SLC24A5	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,integument phenotype	-,Albinism, oculocutaneous|Albinism, oculocutaneous 6|Increased skin pigmentation, association with	ICGC,
chr11	45471511	45471511	G	A	intergenic	LOC399886,CHST1	unknown	SNV	-	-	-	3.231e-05	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr2	5577188	5577188	C	A	intergenic	LINC01249,LINC01248	unknown	SNV	-	-	-	-	rs550230763	-	0.000199681	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	ICGC,
chr19	31518893	31518893	T	C	intergenic	ZNF536,TSHZ3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17748953	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	Schizophrenia,-	COSMIC,ICGC,
chr8	41108489	41108489	C	T	intergenic	ZMAT4,SFRP1	unknown	SNV	-	-	-	-	rs181996841	-	-	-	-	COSN17728724	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,Intellectual and developmental disabilities	COSMIC,ICGC,
chr19	39435492	39435492	C	T	intronic	FBXO17	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr14	106392633	106392633	G	A	ncRNA_exonic	KIAA0125	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	-	ICGC,
chrY	7218718	7218718	A	G	ncRNA_intronic	PRKY	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19333953	-	-	-	-	-	-	COSMIC,
chr11	39699725	39699725	C	T	intergenic	LOC101928536,LRRC4C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,-	-,-	ICGC,
chrX	72964998	72964998	C	G	intergenic	CHIC1,TSIX	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	normal phenotype,-	-,-	ICGC,
chr12	80985959	80985959	G	A	intronic	PTPRQ	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	Deafness, non-syndromic |Hearing loss  |Nonsyndromic hearing impairment DFNB84	ICGC,
chr9	5813692	5813692	T	C	intronic	ERMP1	unknown	SNV	-	-	-	0.3427	rs10975298	-	0.414337	-	0.326	-	-	ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488	-	-	-	Alzheimer disease  	ICGC,
chr4	119939869	119939869	A	C	intronic	SYNPO2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-	-	ICGC,
chr7	53303291	53303291	C	T	intergenic	POM121L12,LINC01446	unknown	SNV	-	-	-	0.2965	rs12666375	-	0.342452	-	0.362	-	-	ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488	-	-	-,-	-,-	ICGC,
chr13	104352801	104352801	-	A	intergenic	MIR548AS,DAOA-AS1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr2	68186161	68186161	C	T	intergenic	LOC101927701,C1D	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr1	240554277	240554277	T	G	intronic	FMN2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	reproductive system phenotype	Intellectual disability, non-syndromic|Mental retardation & short stature	ICGC,
chr14	58166859	58166859	T	A	intronic	SLC35F4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25036771	-	LICA-FR|1|252|0.00397	-	-	-	-	COSMIC,ICGC,
chr1	68876193	68876193	A	G	intergenic	WLS,RPE65	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,other phenotype	-,Retinitis pigmentosa|Retinitis pigmentosa / choroideremia|Retinitis pigmentosa, autosomal dominant ?|Retinitis pigmentosa, juvenile-onset|Retinitis pigmentosa?|RPE65 deficiency|Retinal dystrophy, severe, childhood onset|Retinal dystrophy, childhood onset|Retinal dystrophy, autosomal recessive|Retinal dystrophy |Leber congenital amaurosis.|Leber congenital amaurosis ?|Leber congenital amaurosis|Fundus albipunctatus|Cone-rod dystrophy, early-onset, severe	ICGC,
chr15	71198137	71198137	T	A	intronic	LRRC49	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr9	35067406	35067406	G	A	intronic	VCP	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	mortality/aging	Spastic paraplegia|Parkinson disease in IBMPFD|Myopathy, rimmed vacuolar|Myopathy and dementia.|IBMPFD.|IBMPFD / Amyotrophic lateral sclerosis|IBMPFD |Hereditary spastic paraplegia|Alzheimer disease |Amyotrophic lateral sclerosis|Autism|Distal myopathy|Facioscapulohumeral muscular dystrophy-like phenotype	ICGC,
chr2	51563540	51563540	G	A	intergenic	NRXN1,NONE	unknown	SNV	-	-	-	-	rs188678003	-	0.000199681	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Hypotonia|Hypotonia & encephalopathy|Increased white matter volume, association with|Intellectual disability  |Intellectual disability & attention deficit hyperactivity disorder|Intellectual disability & hearing loss|Intellectual disability & pervasive developmental disorder|Intellectual disability and autism|Intellectual disability, nonsyndromic |Intellectual disability, seizures, dysmorphisms & language delay|Growth retardation  |Epilepsy, myoclonic seizures & speech delay|Developmental disorder|Developmental disorder & attention deficit hyperactivity disorder|Developmental disorder, seizures & attention deficit hyperactivity disorder|Developmental/intellectual disability, hypotonia & dysmorphic features|Disorder of muscle, ligament & fascia|Encephalopathy  |Epilepsy  |Epilepsy with cognitive impairment / autism spectrum disorder|Epilepsy with focal seizures|Epilepsy, generalised |Intellectual disability, seizures, language delay & hypotonia|Language delay|Learning difficulties|Respiratory distress & sepsis|Respiratory distress syndrome|Schizophrenia |Schizophrenia, childhood onset |Schizophrenia, disorganised type|Seizures, generalized tonic-clonic & attention deficit hyperactivity disorder|Sensory integration disorder & attention deficit hyperactivity disorder|Speech delay & social communication difficulties|Tourette syndrome|Pervasive developmental disorder / hypotonia|Pervasive developmental disorder|Pervasive developmental delay / mental retardation, lack of coordination & hearing loss|Learning difficulties, ADHD & autism|Mental retardation|Mental retardation, autism, vertebral malformations|Mental retardation, Pitt-Hopkins-like|Microcephaly & mental retardation|Multiple congenital anomalies  |Multiple disabilities|Myoclonic epilepsy   |Neurodevelopmental disorder  |Vertebral anomalies|Developmental delay, speech delay & social communication difficulties|Attention deficit hyperactivity disorder |Autism spectrum disorder, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability & language delay|Autism spectrum disorder, intellectual disability, dysmorphisms, developmental delay & language delay|Autism spectrum disorder, intellectual disability, seizures & developmental delay|Autism spectrum disorder, intellectual disability, seizures, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability, seizures, dysmorphisms & language delay|Autism spectrum disorder, seizures, developmental delay & language delay|Autism, intellectual disability & attention deficit hyperactivity disorder|Autistic disorder|Autism spectrum disorder with developmental & speech delay|Autism spectrum disorder & seizures|Autism spectrum disorder & language delay|Autism |Autism & learning difficulties|Autism & mental retardation|Autism & seizures|Autism spectrum disorder|Autism spectrum disorder & attention deficit hyperactivity disorder|Autism spectrum disorder & developmental delay|Autism spectrum disorder & dysmorphic features|Autism spectrum disorder & intellectual disability|Behavioural problems|Congenital heart defect  |Craniofacial dysmorphism|Developmental delay & speech/motor delay|Developmental delay with early-onset epilepsy|Developmental delay, dysmorphic features & short stature|Developmental delay, epilepsy, autism|Developmental delay, language delay & hypotonia|Developmental delay, learning difficulties, ADHD|Developmental delay, microcephaly & behavioural problems|Developmental delay, pulmonic stenosis & autism spectrum disorder|Developmental delay, short stature and diaphragmatic hernia|Developmental delay, speech delay & microcephaly|Developmental delay & seizures|Developmental delay & seizure disorder|Cystic hygroma, hydrops & micrognathia|Cystic hygroma, shortened upper limbs & fetal demise|Developmental & speech delay|Developmental delay|Developmental delay / autism|Developmental delay & autism|Developmental delay & dysmorphic features|Developmental delay & epilepsy|Developmental delay & hypotonia|Developmental delay & multiple congenital anomalies,-	ICGC,
chr16	7025740	7025740	A	T	intronic	RBFOX1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Muscular and feet abnormalities|Mental retardation|Epilepsy, rolandic  |Epilepsy|Developmental delay, facial dysmorphism  |Developmental delay and transposition of the great arteries|Developmental delay and diplegia|Developmental delay and craniosynostosis|Developmental delay  |Cardiac defects|Cardiac abnormalities, micrognathia and scoliosis|Autism spectrum disorder|Autism|Attention deficit hyperactivity disorder 	ICGC,
chr18	40646176	40646176	A	G	intronic	RIT2	unknown	SNV	-	-	-	0.3124	rs4890423	-	0.349042	-	0.348	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr12	90300514	90300514	C	T	intergenic	LINC00936,LINC00615	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15061283	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr18	62284234	62284234	A	C	intergenic	LOC284294,CDH7	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17734993	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr19	2142760	2142760	T	A	intronic	AP3D1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7118144	-	PACA-AU|1|391|0.00256	-	-	integument phenotype	Schizophrenia	COSMIC,ICGC,
chr1	172892681	172892681	C	T	intergenic	FASLG,TNFSF18	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23880810	-	ORCA-IN|1|178|0.00562,OV-AU|1|93|0.01075	-	-	integument phenotype,-	Systemic lupus erythematosus, susceptibility to|Systemic lupus erythematosus, association with|Sjoegren syndrome with enlarged exocrine glands|Nasopharyngeal carcinoma, increased risk|Laryngeal and hypopharyngeal squamous cell carcinoma, protection against, association with.|Cancer, susceptibility to|Cancer susceptibility, association with|Breast cancer, association with.|Autoimmune lymphoproliferative syndrome, type 1b|Autoimmune lymphoproliferative syndrome,Autism spectrum disorder	COSMIC,ICGC,
chr20	12227213	12227213	C	T	intergenic	BTBD3,LOC101929486	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	112124068	112124068	T	A	intergenic	PITX2,C4orf32	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Ring dermoid of the cornea|Rieger syndrome|Peter anomaly|Omphalocele, association with |Omphalocele|Iris hypoplasia|Iridogoniodysgenesis syndrome|Craniofacial/acallosal CNS midline defects|Axenfeld-Rieger syndrome|Anterior segment dysgenesis,-	ICGC,
chr4	87133674	87133674	G	A	ncRNA_intronic	LOC101929064	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	-	ICGC,
chr8	24364861	24364861	C	T	intronic	ADAM7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-	Potential protein deficiency|Schizophrenia, association with  	ICGC,
chr11	28849337	28849337	C	T	intergenic	MIR8068,KCNA4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,behavior/neurological phenotype	-,-	ICGC,
chr1	247835494	247835494	G	A	exonic	OR13G1	nonsynonymous	SNV	0.011	0.974	4.066e-06	-	-	-	-	-	-	COSM4510891	-	-	-	-	-	Myocardial infarction, association with	COSMIC,
chr15	30938961	30938961	T	G	ncRNA_intronic	LOC100288637	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr21	10834162	10834162	G	A	intergenic	TEKT4P2,TPTE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,-	-,Potential protein deficiency	ICGC,
chr21	15220098	15220098	C	T	ncRNA_intronic	C21orf15	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr15	75326635	75326635	G	A	intronic	PPCDC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	OV-AU|1|93|0.01075	-	-	-	-	ICGC,
chr13	77683607	77683607	G	A	intronic	MYCBP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Autism	ICGC,
chr11	105965314	105965314	G	A	exonic	AASDHPPT	nonsynonymous	SNV	0.029	0.982	-	-	-	-	-	-	-	COSM4168762	-	-	-	-	-	-	COSMIC,
chr5	5238198	5238198	A	T	intronic	ADAMTS16	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5607164	-	LIRI-JP|1|258|0.00388	-	-	-	Increased systolic blood pressure, association with	COSMIC,ICGC,
chr4	103257056	103257056	G	A	intronic	SLC39A8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	no phenotypic analysis	-	ICGC,
chr6	74752210	74752210	C	T	intergenic	CD109,LOC101928516	unknown	SNV	-	-	-	0.2670	rs4708113	-	0.285942	-	0.225	-	-	LAML-KR|1|205|0.00488	-	-	integument phenotype,-	Gov platelet antigen variation,-	ICGC,
chr3	88084178	88084178	G	T	intergenic	HTR1F,CGGBP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	UTCA-FR|1|20|0.05000	-	-	integument phenotype,-	-,-	ICGC,
chr6	27212891	27212891	G	A	intergenic	MIR3143,PRSS16	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,hematopoietic system phenotype	-,-	ICGC,
chr4	145987032	145987032	C	T	intronic	ANAPC10	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9217243	-	OV-AU|1|93|0.01075	-	-	-	-	COSMIC,ICGC,
chr15	24029422	24029422	C	T	intergenic	NDN,PWRN2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	-,-	ICGC,
chr5	156292412	156292412	A	C	intergenic	PPP1R2P3,TIMD4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN28094308	-	PRAD-CA|1|308|0.00325	-	-	-,hematopoietic system phenotype	-,-	COSMIC,ICGC,
chr1	237947732	237947732	G	C	exonic	RYR2	synonymous	SNV	-	-	1.634e-05	3.23e-05	rs774851947	3.371e-05	-	-	-	-	-	-	not_specified	-	mortality/aging	Long QT syndrome|Sudden cardiac death|Sudden cardiac death.|Sudden infant death syndrome|Sudden unexplained death  |Ventricular arrhythmia, in chronic heart failure, association with.|Ventricular tachycardia, polymorphic|Left ventricular noncompaction  |Left ventricular non-compaction.|Catecholaminergic polymorphic ventricular tachycardia.|Catecholaminergic polymorphic ventricular tachycardia|Cardiac arrhythmia|Arrhythmogenic right ventricular dysplasia/cardiomyopathy|Arrhythmogenic right ventricular dysplasia type 2|Arrhythmogenic right ventricular cardiomyopathy, association with|Arrhythmogenic right ventricular cardiomyopathy|Altered channel function	ClinVar,
chr13	70864228	70864228	A	T	intergenic	ATXN8OS,LINC00348	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,-	Huntington disease  |Spinocerebellar ataxia 8,-	ICGC,
chr3	137471213	137471213	A	G	intergenic	IL20RB,SOX14	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	hematopoietic system phenotype,no phenotypic analysis	Autism,-	ICGC,
chr10	19503673	19503673	C	T	intronic	MALRD1	unknown	SNV	-	-	-	0.0300	rs12569779	-	0.0658946	-	0.036	-	-	LAML-KR|1|205|0.00488	-	-	-	-	ICGC,
chr2	28503966	28503966	C	T	intronic	BRE	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25098536	-	MALY-DE|1|241|0.00415	-	-	other phenotype	-	COSMIC,ICGC,
chr6	112747204	112747204	C	T	intergenic	RFPL4B,MARCKS	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,-	ICGC,
chr1	247977039	247977039	G	A	intergenic	OR1C1,OR14A16	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	77635081	77635081	C	T	splicing	PIGK	splicing	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr5	31487494	31487494	C	A	intronic	DROSHA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	integument phenotype	Epithelial ovarian cancer, increased risk, association |Lung cancer, survival, association with 	ICGC,
chrX	28909930	28909930	C	T	intronic	IL1RAPL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	nervous system phenotype	Mental retardation, X-linked|Mental retardation with dysmorphic features|Mental retardation and autism|Intellectual disability, X-linked with dysmorphism|Intellectual disability, X-linked|Intellectual disability, dysmorphic signs, deafness & behavioural problems|Intellectual disability & behavioural problems|Developmental delay, learning disability & microcephaly|Autism spectrum disorder  |Asperger syndrome	ICGC,
chr8	108626835	108626835	G	A	intergenic	ANGPT1,RSPO2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,integument phenotype	Stroke, reduced risk, association with,Pancreatic cancer 	ICGC,
chr10	37227197	37227197	G	A	intergenic	LINC01452,ANKRD30A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	51895317	51895317	G	A	intergenic	NRXN1,ASB3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Hypotonia|Hypotonia & encephalopathy|Increased white matter volume, association with|Intellectual disability  |Intellectual disability & attention deficit hyperactivity disorder|Intellectual disability & hearing loss|Intellectual disability & pervasive developmental disorder|Intellectual disability and autism|Intellectual disability, nonsyndromic |Intellectual disability, seizures, dysmorphisms & language delay|Growth retardation  |Epilepsy, myoclonic seizures & speech delay|Developmental disorder|Developmental disorder & attention deficit hyperactivity disorder|Developmental disorder, seizures & attention deficit hyperactivity disorder|Developmental/intellectual disability, hypotonia & dysmorphic features|Disorder of muscle, ligament & fascia|Encephalopathy  |Epilepsy  |Epilepsy with cognitive impairment / autism spectrum disorder|Epilepsy with focal seizures|Epilepsy, generalised |Intellectual disability, seizures, language delay & hypotonia|Language delay|Learning difficulties|Respiratory distress & sepsis|Respiratory distress syndrome|Schizophrenia |Schizophrenia, childhood onset |Schizophrenia, disorganised type|Seizures, generalized tonic-clonic & attention deficit hyperactivity disorder|Sensory integration disorder & attention deficit hyperactivity disorder|Speech delay & social communication difficulties|Tourette syndrome|Pervasive developmental disorder / hypotonia|Pervasive developmental disorder|Pervasive developmental delay / mental retardation, lack of coordination & hearing loss|Learning difficulties, ADHD & autism|Mental retardation|Mental retardation, autism, vertebral malformations|Mental retardation, Pitt-Hopkins-like|Microcephaly & mental retardation|Multiple congenital anomalies  |Multiple disabilities|Myoclonic epilepsy   |Neurodevelopmental disorder  |Vertebral anomalies|Developmental delay, speech delay & social communication difficulties|Attention deficit hyperactivity disorder |Autism spectrum disorder, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability & language delay|Autism spectrum disorder, intellectual disability, dysmorphisms, developmental delay & language delay|Autism spectrum disorder, intellectual disability, seizures & developmental delay|Autism spectrum disorder, intellectual disability, seizures, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability, seizures, dysmorphisms & language delay|Autism spectrum disorder, seizures, developmental delay & language delay|Autism, intellectual disability & attention deficit hyperactivity disorder|Autistic disorder|Autism spectrum disorder with developmental & speech delay|Autism spectrum disorder & seizures|Autism spectrum disorder & language delay|Autism |Autism & learning difficulties|Autism & mental retardation|Autism & seizures|Autism spectrum disorder|Autism spectrum disorder & attention deficit hyperactivity disorder|Autism spectrum disorder & developmental delay|Autism spectrum disorder & dysmorphic features|Autism spectrum disorder & intellectual disability|Behavioural problems|Congenital heart defect  |Craniofacial dysmorphism|Developmental delay & speech/motor delay|Developmental delay with early-onset epilepsy|Developmental delay, dysmorphic features & short stature|Developmental delay, epilepsy, autism|Developmental delay, language delay & hypotonia|Developmental delay, learning difficulties, ADHD|Developmental delay, microcephaly & behavioural problems|Developmental delay, pulmonic stenosis & autism spectrum disorder|Developmental delay, short stature and diaphragmatic hernia|Developmental delay, speech delay & microcephaly|Developmental delay & seizures|Developmental delay & seizure disorder|Cystic hygroma, hydrops & micrognathia|Cystic hygroma, shortened upper limbs & fetal demise|Developmental & speech delay|Developmental delay|Developmental delay / autism|Developmental delay & autism|Developmental delay & dysmorphic features|Developmental delay & epilepsy|Developmental delay & hypotonia|Developmental delay & multiple congenital anomalies,-	ICGC,
chr3	141966315	141966315	C	T	intergenic	GK5,XRN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chrX	72459865	72459865	C	A	intergenic	NAP1L2,CDX4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BOCA-UK|1|130|0.00769	-	-	-,mortality/aging	Schizophrenia  ,-	ICGC,
chr19	10186248	10186248	T	A	intergenic	C3P1,C19orf66	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21821902	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr12	71531812	71531812	T	C	exonic	TSPAN8	nonsynonymous	SNV	0.171	0.99	8.133e-06	-	rs766203713	1.649e-05	-	-	-	-	LUAD|1|543|0.00184	-	-	-	-	-	TCGA,
chr6	158097268	158097268	G	A	intergenic	ZDHHC14,SNX9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	CLLE-ES|1|510|0.00196	-	-	-,-	-,-	ICGC,
chr5	148853283	148853283	-	T	intergenic	MIR143HG,CSNK1A1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr7	53037246	53037246	C	T	intergenic	COBL,POM121L12	unknown	SNV	-	-	-	0.4878	rs6963271	-	0.361022	-	0.478	-	-	LAML-KR|1|205|0.00488	-	-	nervous system phenotype,-	-,-	ICGC,
chrX	79397365	79397365	T	C	intergenic	TBX22,CHMP1B2P	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1392592	-	LINC-JP|1|394|0.00254	-	-	mortality/aging,-	Cleft palate, non-syndromic|Cleft palate and ankyloglossia, association with|Cleft palate and ankyloglossia|Cleft palate|Cleft lip and palate|Ankyloglossia |Abruzzo-Erickson syndrome,-	COSMIC,ICGC,
chr18	33481125	33481125	A	G	intergenic	GALNT1,MIR187	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging,-	-,-	ICGC,
chr7	8858134	8858134	G	A	intergenic	NXPH1,PER4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Breast cancer, increased risk  ,-	ICGC,
chr6	105902407	105902407	C	A	intergenic	PREP,PRDM1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	hematopoietic system phenotype,mortality/aging	-,Crohn's disease, increased risk, association with|Ulcerative colitis, reduced risk, association with  	ICGC,
chr15	92420901	92420901	C	T	intronic	SLCO3A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr11	58568472	58568472	C	T	intergenic	GLYAT,GLYATL2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Increased activity|Null allele|Reduced activity,-	ICGC,
chr7	119043497	119043497	C	T	intergenic	ANKRD7,KCND2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,integument phenotype	-,Epilepsy, temporal lobe	ICGC,
chr5	16776483	16776483	T	C	intronic	MYO10	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5596403	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr15	74228116	74228116	C	T	intronic	LOXL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype	Total antioxidant status, association with|Pseudoexfoliation syndrome and exfoliation glaucoma, association with|Pseudoexfoliation glaucoma, association with|Increased activity  |Exfoliation glaucoma, association with|Cervical artery dissection, association with|	ICGC,
chr10	75412352	75412352	C	T	intronic	SYNPO2L	unknown	SNV	-	-	-	0.0005	rs549387003	-	0.000199681	-	-	COSN1500343	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,COSMIC,ICGC,
chr4	186508796	186508796	G	A	exonic	SORBS2	synonymous	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-JP|1|585|0.00171	-	-	-	Schizophrenia	ICGC,
chr11	13094027	13094027	C	T	intergenic	RASSF10,ARNTL	unknown	SNV	-	-	-	-	rs534443526	-	0.000199681	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,-	ICGC,
chr11	71288790	71288790	-	AC	intergenic	KRTAP5-10,KRTAP5-11	unknown	insertion	-	-	-	0.4117	rs34016256	-	0.401558	-	0.007	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr9	100194249	100194249	A	G	intronic	TDRD7	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN215373	-	-	-	-	vision/eye phenotype	Cataract and hypospadias|Cataract	COSMIC,
chr8	53281147	53281147	G	A	intronic	ST18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	homeostasis/metabolism phenotype	-	ICGC,
chr21	45233416	45233416	C	A	upstream	LOC284837	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-FR|1|72|0.01389	-	-	-	-	ICGC,
chr3	87838921	87838921	C	T	intergenic	POU1F1,HTR1F	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	mortality/aging,integument phenotype	Mental retardation, in women, association with|Pituitary hormone deficiencies, multiple|Pituitary hormone deficiency,-	ICGC,
chr5	161116076	161116076	C	A	exonic	GABRA6	nonsynonymous	SNV	0.0	1.0	4.062e-06	-	rs780224018	8.253e-06	-	-	-	COSM3410079	GBM|1|290|0.00345,GBMLGG|1|820|0.00122	GBM-US|1|276|0.00362	-	-	behavior/neurological phenotype	Idiopathic epilepsy, generalised 	COSMIC,TCGA,ICGC,
chr17	41315533	41315533	C	T	ncRNA_intronic	LOC101929767	unknown	SNV	-	-	-	6.455e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr17	34367566	34367566	G	A	intergenic	CCL23,CCL18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	ICGC,
chr9	117946198	117946198	C	T	intronic	DEC1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	Squamous cell carcinoma of the head and neck, reduced risk, assoc	ICGC,
chr22	38699243	38699243	G	A	exonic	CSNK1E	synonymous	SNV	-	-	1.304e-05	3.23e-05	rs750631609	1.293e-05	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	behavior/neurological phenotype	Sleep disorders, reduced risk, association with	ICGC,
chr3	78334667	78334667	G	C	intergenic	ROBO2,ROBO1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25067008	-	MALY-DE|1|241|0.00415	-	-	mortality/aging,mortality/aging	Autism spectrum disorder  |Urinary tract anomalies|Vesicoureteral reflux,Developmental dyslexia 	COSMIC,ICGC,
chr1	201749618	201749618	C	A	exonic	NAV1	nonsynonymous	SNV	0.704	0.846	-	-	-	-	-	-	-	COSM1601519	-	LINC-JP|1|394|0.00254	-	-	-	Autism spectrum disorder	COSMIC,ICGC,
chr9	9377587	9377587	G	A	intronic	PTPRD	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Restless legs syndrome, association with|Ewing sarcoma	ICGC,
chr5	144088716	144088716	G	T	intergenic	KCTD16,PRELID2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr3	144267025	144267025	-	TT	intergenic	C3orf58,PLOD2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,Bruck syndrome	ICGC,
chr20	55616026	55616026	G	A	intergenic	TFAP2C,BMP7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,integument phenotype	-,Hypospadias|Eye / skeletal anomalies	ICGC,
chr12	132358479	132358479	C	T	intergenic	MMP17,ULK1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,mortality/aging	-,-	ICGC,
chr3	55122538	55122538	C	T	intergenic	CACNA2D3,WNT5A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype,mortality/aging	Autism ,Robinow syndrome, autosomal dominant	ICGC,
chr13	100260726	100260726	C	T	intronic	CLYBL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Aautism spectrum disorder|Serum vitamin B12 levels, association with	ICGC,
chrX	151060019	151060019	G	A	intergenic	CNGA2,MAGEA4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	-,-	ICGC,
chr21	39148690	39148690	G	A	intronic	KCNJ6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging	Increased opioid requirements, association with|Increased postoperative analgesic requirements, association with	ICGC,
chr5	153224120	153224120	T	G	intergenic	GRIA1,FAM114A2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16288267	-	PRAD-CA|1|308|0.00325	-	-	integument phenotype,-	Intellectual disability  ,-	COSMIC,ICGC,
chr7	150692321	150692321	A	G	exonic	NOS3	synonymous	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	mortality/aging	Myocardial infarction in Greek population, association with|Neuralgia-inducing cavitational osteonecrosis of the jaws, association with|Not associated with coronary artery disease|Polycystic kidney disease, modifier of|Multifocal osteonecrosis, association with|Limb deficiency defect, association with |Ischemic stroke, association with|Ischaemic stroke, association with|Intraventricular hemorrhage, association with|Increased systolic blood pressure, in preeclampsia, association with.|Increased risk of microangiopathy, association with|Preeclampsia, protection against, association with.|Premature ST elevation myocardial infarction, association with|Primary open angle glaucoma, association with|Venous thromboembolism, association with|Vascular disease, in end-stage renal disease patients, association with|Triglyceride levels, association with|Schizophrenia|Reduced triglyceride levels, association with|Reduced risk of diabetic nephropathy, association with|Reduced LPWT of the heart, in Fabry disease, association|Reduced BP after exercise, association with|Recurrent early spontaneous abortion, association with|Psoriasis risk, association with|Prostate cancer progression, association with|Increased arterial stiffness, in smokers, association with|Hypertension, association with|Acclimatization and adaptation to altitude, association with|Coronary spasm, association with|Coronary artery disease, association with|Colorectal cancer, early-onset, association with|Colorectal cancer, association with.|Cerebral malaria, protection against, association with|Breast cancer, association with|Blood stasis syndrome of ischemic stroke|Autosomal-dominant polycystic kidney disease modifier|Attenuated nonexercising muscle vasodilatation, association with|Asthenozoospermia, association with|Albumin to creatinine ratio, association with|Deep vein thrombosis after orthopedic surgery, association with|Dementia in stroke patients, increased risk|Hyperhomocysteinemia in cognitive decline, association with|Glaucoma, open angle, increased risk|Frontotemporal lobar degeneration, association with|Femoral head osteonecrosis, association with|Essential hypertension, association with|Endometriosis, association with|Elite performance in power-related sports, association with|Diabetes leading to severe nephropathy, in East Asians, association|Diabetes, type 2, association with|Diabetes, types 1 and 2, association with|Diabetic nephropathy, association with|Diabetic retinopathy, association with	ICGC,
chr5	178061020	178061020	G	A	intergenic	CLK4,ZNF354A	unknown	SNV	-	-	-	6.456e-05	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-,-	-,-	ICGC,
chr4	72067757	72067757	C	T	intronic	SLC4A4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype	Reduced transport activity|Proximal renal tubular acidosis|Migraine 	ICGC,
chr2	4714531	4714531	T	C	intergenic	LINC01249,LINC01248	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr14	72561519	72561519	G	A	intronic	RGS6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	cardiovascular system phenotype	Increased protein expression	ICGC,
chr12	55701319	55701319	G	A	intergenic	OR6C6,OR6C1	unknown	SNV	-	-	-	0	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	-,-	-,-	ICGC,
chr8	132290523	132290523	C	T	intergenic	ADCY8,EFR3A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Myocardial infarction  ,Autism|Potential protein deficiency	ICGC,
chr4	60555722	60555722	G	A	intergenic	NONE,LPHN3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,behavior/neurological phenotype	-,-	ICGC,
chr19	24467318	24467318	C	T	intergenic	HAVCR1P1,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,-	-,-	ICGC,
chr2	233934917	233934917	T	C	intronic	INPP5D	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22636599	-	BRCA-EU|1|569|0.00176	-	-	integument phenotype	-	COSMIC,ICGC,
chr13	83764123	83764123	-	T	intergenic	NONE,SLITRK1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,Trichotillomania|Tourette syndrome|Obsessive-compulsive disorder |Attention deficit hyperactivity disorder 	ICGC,
chr9	15464928	15464928	A	-	UTR3	PSIP1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	-	ICGC,
chr17	63695	63695	C	T	exonic	RPH3AL	nonsynonymous	SNV	0.517	0.005	0.0001	-	rs142240545	0.0002	-	7.7e-05	-	COSM3521049	SKCM|1|368|0.00272	SKCM-US|1|335|0.00299	-	-	digestive/alimentary phenotype	Colorectal cancer, reduced risk of recurrence, association with	COSMIC,TCGA,ICGC,
chr3	165830422	165830422	G	A	intergenic	BCHE,ZBBX	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,-	Serum cholinesterase deficiency|Potential protein deficiency|Obesity and triglyceride levels, association with|Hypocholinesterasaemia|Fronto-temporal dementia, association with|Cholinesterasaemia|Butyrylcholinesterase variant|Butyrylcholinesterase deficiency|Addiction to crack cocaine, association with|Acholinesterasaemia,-	ICGC,
chr6	98540507	98540507	G	A	intergenic	MIR2113,POU3F2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	-,-	ICGC,
chr12	87924401	87924401	C	T	intergenic	MGAT4C,MKRN9P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Prostate cancer, increased risk |Mental retardation,-	ICGC,
chr8	35559946	35559946	G	A	intronic	UNC5D	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr16	81080295	81080295	-	ACGC	UTR3	ATMIN	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	mortality/aging	-	ICGC,
chrX	141634001	141634001	C	A	intergenic	MAGEC2,SPANXN4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	RECA-EU|1|422|0.00237	-	-	-,-	-,-	ICGC,
chr11	25974956	25974956	C	T	intergenic	LUZP2,ANO3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	normal phenotype,-	Anorectal malformation,Craniocervical dystonia|Dystonia, primary torsion	ICGC,
chr4	189474599	189474599	C	T	ncRNA_intronic	LINC01060	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7478253	-	PACA-AU|1|391|0.00256	-	-	-	-	COSMIC,ICGC,
chr4	95705112	95705112	A	G	intronic	BMPR1B	unknown	SNV	-	-	-	0.6333	rs11932119	-	0.638578	-	0.710	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Pulmonary arterial hypertension|Prostate cancer, localised, association with|Breast cancer, increased risk, association with|Brachydactyly type A2|Acromesomelic chondrodysplasia, genital anomalies	ICGC,
chr1	90726431	90726431	G	A	intergenic	ZNF326,BARHL2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,mortality/aging	Schizophrenia,-	ICGC,
chr4	183795701	183795701	A	C	intergenic	TENM3,DCTD	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-JP|1|585|0.00171	-	-	mortality/aging,-	Microphthalmia  ,Reduced activity	ICGC,
chr4	27791426	27791426	G	C	intergenic	STIM2,MIR4275	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15437815	-	OV-AU|1|93|0.01075	-	-	integument phenotype,-	-,-	COSMIC,COSMIC,ICGC,
chr17	37671496	37671496	C	T	intronic	CDK12	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr2	207435602	207435602	G	T	intronic	ADAM23	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-JP|1|585|0.00171	-	-	mortality/aging	-	ICGC,
chr10	17149034	17149034	G	A	intronic	CUBN	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Pulmonary atresia  |Proteinuria  |Potential protein deficiency|Megaloblastic anaemia|Imerslund-Gräsbeck syndrome|High HDL cholesterol|Albuminuria, association with	ICGC,
chr5	29240924	29240924	C	T	intergenic	LOC101929645,LOC101929681	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr11	57021449	57021449	G	A	intergenic	APLNR,TNKS1BP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	mortality/aging,-	Brain infarction, association with,-	ICGC,
chr10	92609054	92609054	C	T	intronic	HTR7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Receptor variant	ICGC,
chr16	7435061	7435061	G	A	intronic	RBFOX1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Muscular and feet abnormalities|Mental retardation|Epilepsy, rolandic  |Epilepsy|Developmental delay, facial dysmorphism  |Developmental delay and transposition of the great arteries|Developmental delay and diplegia|Developmental delay and craniosynostosis|Developmental delay  |Cardiac defects|Cardiac abnormalities, micrognathia and scoliosis|Autism spectrum disorder|Autism|Attention deficit hyperactivity disorder 	ICGC,
chr11	49931448	49931448	C	G	intergenic	LOC440040,OR4C13	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN10088496	-	RECA-EU|1|422|0.00237	-	-	-,-	-,-	COSMIC,ICGC,
chr7	131743187	131743187	G	A	intergenic	LOC101928782,PLXNA4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Autism|Parkinson disease  	ICGC,
chr9	32277930	32277930	T	C	intergenic	LINC01242,ACO1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2322058	-	LIRI-JP|1|258|0.00388	-	-	-,mortality/aging	-,Schizophrenia	COSMIC,ICGC,
chr18	28956913	28956913	C	T	exonic	DSG4	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM3525068	SKCM|1|368|0.00272	SKCM-US|1|335|0.00299	-	-	integument phenotype	Potential protein deficiency|Monilethrix|Hypotrichosis|Colorectal cancer 	COSMIC,COSMIC,TCGA,ICGC,
chr6	92011846	92011846	G	A	intergenic	MAP3K7,MIR4643	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	-,-	ICGC,
chr21	46349286	46349286	G	A	ncRNA_exonic	ITGB2-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8012046	-	PACA-AU|1|391|0.00256	-	-	-	-	COSMIC,ICGC,
chr19	33836381	33836381	A	C	intergenic	CEBPA-AS1,CEBPG	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,-	ICGC,
chr6	110667706	110667708	TCT	-	intronic	METTL24	unknown	deletion	-	-	-	0.0002	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-	-	ICGC,
chr1	103135875	103135875	C	A	intergenic	OLFM3,COL11A1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19413738	-	-	-	-	-,mortality/aging	-,Stickler syndrome, type 2|Stickler syndrome|Robin sequence |Osteoarthritis, early-onset|Marshall syndrome|Marshall / Stickler syndrome|Lumbar disc herniation, association with|Fibrochondrogenesis|Deafness  	COSMIC,
chr19	1252747	1252747	C	T	intronic	MIDN	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	reproductive system phenotype	-	ICGC,
chr5	154327593	154327593	T	C	intronic	MRPL22	unknown	SNV	-	-	-	-	rs768814692	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr3	81859069	81859069	T	C	intergenic	GBE1,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25554845	-	MALY-DE|1|241|0.00415	-	-	mortality/aging,-	Potential protein deficiency|Polyglucosan body disease, relapsing-remitting form|Polyglucosan body disease, adult|Lethal multiple pterygium syndrome|Glycogen storage disease 4, non-lethal neuromuscular|Glycogen storage disease 4, neonatal|Glycogen storage disease 4|Autism spectrum disorder|Adult polyglucosan body disease,-	COSMIC,ICGC,
chr5	136053734	136053734	A	T	intergenic	TRPC7,SPOCK1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	vision/eye phenotype,normal phenotype	-,Developmental delay & microcephaly	ICGC,
chr22	46152993	46152993	C	T	intronic	ATXN10	unknown	SNV	-	-	-	6.466e-05	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	Nephronophthisis  |Spinocerebellar ataxia 10	ICGC,
chr8	60069517	60069517	G	A	intergenic	TOX,CA8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype,behavior/neurological phenotype	Pulmonary tuberculosis, association  with,Ataxia, cerebellar hypoplasia|Cerebellar ataxia and quadrupedal locomotion|Cerebellar ataxia, mental retardation & dysequilibrium syndrome 3	ICGC,
chr9	108727171	108727182	TTTATTTATTTA	-	intergenic	TMEM38B,MIR8081	unknown	deletion	-	-	-	0.2601	rs143377054	-	-	-	-	COSN18926091	-	-	-	-	mortality/aging,-	Osteogenesis imperfecta, autosomal recessive,-	COSMIC,
chr2	181286853	181286853	T	A	intergenic	CWC22,SCHLAP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr16	30532187	30532187	C	T	intronic	ITGAL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	hematopoietic system phenotype	-	ICGC,
chr11	81669529	81669529	G	A	ncRNA_intronic	LOC101928989	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr7	124775489	124775489	C	A	intergenic	POT1,LOC101928283	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9826887	-	OV-AU|1|93|0.01075	-	-	mortality/aging,-	Melanoma|Autism,-	COSMIC,ICGC,
chrX	86639982	86639982	-	TC	intergenic	DACH2,KLHL4	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|13|67|0.19403	-	-	normal phenotype,-	-,-	ICGC,
chr4	10971398	10971398	G	A	intergenic	CLNK,MIR572	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	hematopoietic system phenotype,-	Immunodeficiency, common variable, association with,-	ICGC,
chr4	31873323	31873323	A	G	intergenic	PCDH7,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr13	113030696	113030696	G	A	UTR5	SPACA7	unknown	SNV	-	-	3.715e-05	-	rs777253937	2.974e-05	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr14	101476168	101476168	C	G	intergenic	SNORD114-31,MIR379	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	ICGC,
chr4	85796199	85796199	G	A	intronic	WDFY3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	Autism 	ICGC,
chr2	54878328	54878328	C	T	intronic	SPTBN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	-	ICGC,
chr1	95659523	95659523	A	G	UTR3	TMEM56	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr2	78785236	78785236	A	-	intergenic	LOC101927967,REG3G	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr16	21721199	21721199	C	T	intronic	OTOA	unknown	SNV	-	-	4.065e-06	-	rs727503349	-	-	-	-	-	-	-	not_specified	-	-	Sensorineural hearing loss, nonsyndromic  |Hearing loss, non-syndromic|Deafness, autosomal recessive|Autism spectrum disorder  	ClinVar,
chr22	33754435	33754435	C	G	intronic	LARGE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	mortality/aging	Alpha-dystroglycanopathy |Autism, non-complex|Fukushima congenital muscular dystrophy|Muscular dystrophy, congenital 1D|Walker-Warburg syndrome|Walker-Warburg syndrome.	ICGC,
chr1	68897186	68897186	-	CCAG	exonic	RPE65	frameshift	insertion	-	-	-	-	rs62636295	-	-	-	-	-	-	-	not_provided	-	other phenotype	Retinitis pigmentosa|Retinitis pigmentosa / choroideremia|Retinitis pigmentosa, autosomal dominant ?|Retinitis pigmentosa, juvenile-onset|Retinitis pigmentosa?|RPE65 deficiency|Retinal dystrophy, severe, childhood onset|Retinal dystrophy, childhood onset|Retinal dystrophy, autosomal recessive|Retinal dystrophy |Leber congenital amaurosis.|Leber congenital amaurosis ?|Leber congenital amaurosis|Fundus albipunctatus|Cone-rod dystrophy, early-onset, severe	ClinVar,
chr5	20153703	20153703	T	G	intronic	CDH18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	Anorectal malformation	ICGC,
chr3	84375654	84375654	G	A	intergenic	NONE,LINC00971	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr19	28924026	28924026	T	C	intergenic	LOC101927151,LOC100420587	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr5	35494059	35494059	C	T	intergenic	PRLR,SPEF2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,mortality/aging	Benign breast tumours, association with|Hyperprolactinaemia,-	ICGC,
chr2	160422765	160422765	A	C	intronic	BAZ2B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9072258	-	OV-AU|1|93|0.01075	-	-	-	-	COSMIC,ICGC,
chr4	19768429	19768429	T	G	intergenic	LCORL,SLIT2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,mortality/aging	-,Schizophrenia  	ICGC,
chr22	44142160	44142160	G	A	intronic	EFCAB6	unknown	SNV	-	-	-	6.495e-05	rs182186049	-	0.000199681	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Potential protein deficiency	ICGC,
chr20	44007709	44007709	T	G	ncRNA_intronic	SYS1-DBNDD2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22690131	-	BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr9	108701635	108701635	T	C	intergenic	TMEM38B,MIR8081	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8292918	-	PACA-CA|1|268|0.00373	-	-	mortality/aging,-	Osteogenesis imperfecta, autosomal recessive,-	COSMIC,ICGC,
chr5	93307316	93307316	-	TAAATGAA	intronic	FAM172A	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	-	ICGC,
chr6	83164312	83164312	T	G	intergenic	TPBG,UBE3D	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9809876	-	OV-AU|1|93|0.01075	-	-	mortality/aging,-	-,-	COSMIC,ICGC,
chr18	51693885	51693885	C	G	intronic	MBD2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	-	ICGC,
chr3	154644564	154644564	C	A	intergenic	GPR149,MME	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	reproductive system phenotype,integument phenotype	-,Alzheimer disease, association with|Anxiety, association with|Cerebral amyloid angiopathy, severity, association with|Fetomaternal alloimmunisation|Increased enzyme activity|Reduced enzyme activity	ICGC,
chr13	61128113	61128113	C	T	intronic	TDRD3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr7	155684781	155684781	G	T	intergenic	SHH,LOC389602	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|2|170|0.01176	-	-	integument phenotype,-	Polysyndactyly, Haas type|Preaxial polydactyly |Preaxial polydactyly, triphalangeal thumb & radial ray deficiency|Solitary median maxillary central incisor|Syndactyly IV  |Syndactyly IV with tibial hypoplasia|Tibial hemimelia-polydactyly-five-fingered hand syndrome|Triphalangeal thumb      |Triphalangeal thumb-polysyndactyly syndrome|Triphalangeal thumb, pre & post-axial polydactyly, & syndactyly|Werner mesomelic syndrome|Poly / syndactyly |Pituitary hypoplasia|Pituitary hormone deficiency, combined|Bilateral closed-lip schizencephaly, corpus callosum absence|Developmental & ocular anomalies|Encephalocele|Holoprosencephaly|Holoprosencephaly & Currarino syndrome|Holoprosencephaly, Currarino syndrome & hand anomalies|Interhemispheric fusion, single nostril nose|Microphthalmia, colobomatous|Multiple congenital eye anomalies, craniofacial dysmorphism & short stature|Muscular hypertrophy, congenital|Ocular anomalies,-	ICGC,
chr5	180395076	180395076	G	A	intergenic	BTNL8,BTNL3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Altered expression,-	ICGC,
chr4	9794522	9794522	G	C	intergenic	DRD5,SLC2A9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	vision/eye phenotype,mortality/aging	Schizophrenia  |Receptor variant|Receptor deficiency,Gout, association with|Renal hypouricaemia|Renal hypouricaemia with exercise-induced acute renal failure	ICGC,
chr3	13863659	13863659	A	G	intronic	WNT7A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	integument phenotype	AA/RRS & Fuhrmann syndrome|Al-Awadi-Raas-Rothschild syndrome|Congenital duplication of the palm syndrome|Fuhrmann syndrome|Ulnar and fibula absence, with severe limb deficiency	ICGC,
chr11	102132889	102132889	G	A	intergenic	YAP1,BIRC3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,mortality/aging	Breast cancer, increased risk|Optic fissure closure defect|Optic fissure closure defect with intellectual disability|Small-cell lung cancer survivial, association with,-	ICGC,
chr1	78894217	78894217	-	T	intergenic	MGC27382,PTGFR	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,reproductive system phenotype	-,-	ICGC,
chrX	124074851	124074851	C	T	intronic	TENM1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Schizophrenia  	ICGC,
chr12	61266799	61266799	C	T	intergenic	SLC16A7,FAM19A2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	Autism spectrum disorder,-	ICGC,
chr10	8512948	8512948	A	C	intergenic	LINC00708,LOC101928272	unknown	SNV	-	-	-	-	rs77336069	-	-	-	0.007	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr10	45046571	45046571	T	C	intergenic	CXCL12,TMEM72-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	Increased susceptibility to HIV type 1 infection|HIV-1 disease progression, association with|Disease progression in HIV, association with.|Delayed onset of AIDS, association with|Coronary artery disease, susceptibility to|Chronic myeloproliferative disease, association with,-	ICGC,
chr1	187883732	187883732	A	-	intergenic	PLA2G4A,NONE	unknown	deletion	-	-	-	0.0005	-	-	-	-	-	COSN23200961	-	COCA-CN|1|321|0.00312,MALY-DE|1|241|0.00415	-	-	mortality/aging,-	Asthma, association with|Cryptogenic multifocal ulcerating stenosing enteritis|Increased enzyme activity|Prostanoid biosynthesis deficiency,-	COSMIC,ICGC,
chr5	57781871	57781872	AT	-	intergenic	PLK2,GAPT	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	integument phenotype,hematopoietic system phenotype	-,-	ICGC,
chr7	125219568	125219568	G	C	intergenic	LOC101928283,GRM8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,behavior/neurological phenotype	-,Attention deficit hyperactivity disorder|Autism spectrum disorder  	ICGC,
chr21	38967033	38967033	A	T	intergenic	DYRK1A,KCNJ6	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9158190	-	OV-AU|1|93|0.01075	-	-	mortality/aging,mortality/aging	Retinal alterations in Down syndrome|Psychomotor delay & behavioural problems|Microcephaly and developmental delay  |Microcephaly|Mental retardation & primary microcephaly|Intellectual disability, microcephaly, delayed language & seizures|Intellectual disability, microcephaly & epilepsy|Facial gestalt of Down syndrome|Dysmorphic features, intellectual disability and generalized epilepsy|Autism,Increased opioid requirements, association with|Increased postoperative analgesic requirements, association with	COSMIC,COSMIC,ICGC,
chr10	13401681	13401681	A	G	intergenic	SEPHS1,BEND7	unknown	SNV	-	-	-	0.0188	rs145955514	-	-	-	0.014	COSN15603082	-	RECA-EU|2|422|0.00474	-	-	-,-	-,-	COSMIC,COSMIC,ICGC,
chr8	115132786	115132786	C	T	intergenic	CSMD3,TRPS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,integument phenotype	Schizophrenia  |Colorectal cancer ,Tricho-rhino-phalangeal syndrome with supernumerary teeth|Tricho-rhino-phalangeal syndrome III|Tricho-rhino-phalangeal syndrome I|Tricho-rhino-phalangeal syndrome|Infantile scoliosis & developmental delay|Femoral neck width, association with|Ambras syndrome	ICGC,
chr7	50701420	50701420	-	AACAA	intronic	GRB10	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	mortality/aging	Russell-Silver syndrome	ICGC,
chr2	237334459	237334459	T	A	intronic	IQCA1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr12	13672277	13672277	G	A	intergenic	C12orf36,GRIN2B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Mental retardation, behavioural anomalies & abnormal EEG|Potential protein deficiency|Schizophrenia, association with|Schizophrenia, association with.|West syndrome|Mental retardation with behavioural anomalies|Intellectual disability  |Huntington disease, earlier onset in females, association with|Focal epilepsy & intellectual disability|Autism spectrum disorder|Autism|Alzheimer disease, increased risk, association with	ICGC,
chr6	107474041	107474041	T	C	UTR3	PDSS2	unknown	SNV	-	-	-	3.229e-05	-	-	-	-	-	-	-	-	Coenzyme_Q10_deficiency,_primary	-	mortality/aging	Leigh syndrome with nephropathy and COQ10 deficiency	ClinVar,
chr7	56083606	56083606	C	A	intronic	PSPH	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	Colorectal cancer |3-phosphoserine phosphatase deficiency	ICGC,
chr2	185815940	185815940	A	G	intergenic	ZNF804A,LOC101927196	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	Neurodevelopmental disease|Reduced cortical gray matter thickness|Schizophrenia and bipolar disorder, association with|Schizophrenia, association with  ,-	ICGC,
chr13	21836963	21836963	C	T	intergenic	MRPL57,MIPEPP3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr11	121679775	121679775	T	C	intergenic	SORL1,MIR100HG	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26018783	-	ESAD-UK|1|301|0.00332	-	-	other phenotype,-	Alzheimer disease, association with|Alzheimer disease, early onset,-	COSMIC,ICGC,
chr11	88539211	88539211	C	T	intronic	GRM5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21342940	-	BRCA-EU|1|569|0.00176	-	-	integument phenotype	Attention deficit hyperactivity disorder|Schizophrenia   	COSMIC,ICGC,
chr13	103580636	103580636	G	A	intergenic	METTL21EP,SLC10A2	unknown	SNV	-	-	-	3.231e-05	rs370311225	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,digestive/alimentary phenotype	-,Bile acid malabsorption, primary|Colorectal adenoma, increased risk, association with|Hypertriglyceridaemia |Impaired taurocholate transport|Potential protein deficiency	ICGC,
chr4	56505206	56505206	C	A	intergenic	NMU,LOC644145	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22295246	-	BRCA-EU|1|569|0.00176	-	-	immune system phenotype,-	Obesity, childhood onset |Obesity, association with,-	COSMIC,ICGC,
chr13	49030568	49030568	T	C	intronic	RB1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24393066	-	-	-	-	integument phenotype	Retinocytoma.|Retinoblastoma, in 13q deletion syndrome|Retinoblastoma|Ovarian cancer ?|Ovarian cancer 	COSMIC,
chr14	28151509	28151509	T	C	intergenic	LINC00645,FOXG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	-,West syndrome |Rett-like syndrome|Rett syndrome|Refractory epilepsy & intellectual impairment|Microcephaly, mental retardation & thin genu of corpus callosum|Mental retardation, speech impairment & epilepsy|Mental retardation & speech impairment|Mental retardation & postnatal microcephaly|Mental retardation & callosum abnormalities|Mental retardation|Infantile spasms|Hemifacial microsomia|Generalized dystonia, athetosis and parkinsonism|Developmental delay, microcephaly & hypoplasia of the corpus callosum|Developmental delay, hypotonia, microcephaly & infantile spasms|Developmental delay & slow head growth|Agenesis of corpus callosum	ICGC,
chr4	167829422	167829422	-	TCA	intronic	SPOCK3	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr18	40604794	40604794	G	A	intronic	RIT2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr8	118165315	118165315	G	A	exonic	SLC30A8	nonsynonymous	SNV	0.0	0.999	-	-	-	-	-	-	-	COSM5408717	-	-	-	-	vision/eye phenotype	Reduced enhancer activity|Potential protein deficiency|Increased insulin clearance|Higher proinsulin levels, association with|Diabetes, type 2, protection against |Diabetes, type 2, association with|Autoantibody specificity in T1D, association with|Autoantibody specificity in T1D	COSMIC,
chr2	18806388	18806388	C	T	intergenic	NT5C1B-RDH14,MIR4757	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr5	140583275	140583275	-	G	downstream	PCDHB11	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN14742526	-	-	-	-	-	-	COSMIC,
chr6	77914286	77914286	G	T	intergenic	IMPG1,HTR1B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,skeleton phenotype	Macular dystrophy, vitelliform,Suicidal ideation, in major depression, association with|Receptor variant|Alcohol dependence, association with|Alcohol and drug abuse, association with|Aggressive behaviour, association with	ICGC,
chrX	113191401	113191401	C	G	intergenic	LOC101928437,HTR2C	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6483467	-	LIRI-JP|1|258|0.00388	-	-	-,integument phenotype	-,Tourette syndrome, association with|Tardive dyskinesia, association with|Suicide, association with|Reduced promoter activity|Premature ejaculation, association with|Increased promoter activity, association with|Hallucinations, in Alzheimer disease, association|Greater dopamine release|Alcohol use disorder comorbidity, association with|Anxiety, and Appetite disturbances in females, in Alzheimer disease, association with.|Bipolar affective disorder, association with|BMI, association with|Depression, in Alzheimer disease, association with.|Diabetes, association with	COSMIC,ICGC,
chr7	146117458	146117458	G	A	intronic	CNTNAP2	unknown	SNV	-	-	-	0.0828	rs73738762	-	0.0561102	-	0.051	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype	Gilles de la Tourette syndrome|Intellectual disability  |Learning disability & speech problems|Mental retardation |Mental retardation, Pitt-Hopkins-like|Multiple congenital anomalies  |Seizures, neonatal |Speech delay  |Stuttering |Epileptic encephalopathy  |Epilepsy and schizophrenia|Autism|Autism spectrum disorder |Autism spectrum disorder, modifier of|Childhood apraxia of speech|Cortical dysplasia-focal epilepsy syndrome|Developmental and/or speech and/or behavioural problems|Developmental delay  |Developmental delay & dysmorphic features|Dyslexia 	ICGC,
chr12	72809527	72809527	C	T	intronic	TRHDE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	no phenotypic analysis	-	ICGC,
chr13	72258809	72258809	T	G	intronic	DACH1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	mortality/aging	Renal hypodysplasia	ICGC,
chr10	33419585	33419585	C	T	intergenic	ITGB1,NRP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,mortality/aging	-,-	ICGC,
chr18	49636162	49636162	T	C	intergenic	LOC100287225,DCC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Altered p53 transactivation|Colorectal cancer, risk, association with |Mirror movements, congenital	ICGC,
chr4	138340532	138340532	A	G	intergenic	LINC00613,PCDH18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,Intellectual disability  	ICGC,
chr14	39219164	39219164	T	-	ncRNA_intronic	LINC00639	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	-	ICGC,
chr7	67806869	67806869	G	T	intergenic	LOC102723427,LOC100507468	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	ICGC,
chr15	85244966	85244966	G	A	intronic	SEC11A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr4	156317955	156317955	G	A	intergenic	MAP9,GUCY1A3	unknown	SNV	-	-	-	3.229e-05	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,Myocardial infarction, increased risk |Achalasia & moyamoya	ICGC,
chr10	134598127	134598127	G	A	downstream	NKX6-2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging	-	ICGC,
chr5	16677673	16677673	T	C	intronic	MYO10	unknown	SNV	-	-	-	0.0054	rs541016263	-	0.00199681	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chrX	152090084	152090084	G	A	intronic	ZNF185	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr4	12627391	12627391	G	A	intergenic	HS3ST1,RAB28	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	-,Breast cancer risk, association with |Cone-rod dystrophy, autosomal recessive	ICGC,
chr6	69646513	69646513	C	A	exonic	BAI3	nonsynonymous	SNV	0.001	0.994	-	-	-	-	-	-	-	COSM229009	-	-	-	-	-	-	COSMIC,
chr1	232520281	232520281	G	T	intergenic	TSNAX-DISC1,SIPA1L2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23963945	-	LAML-KR|1|205|0.00488	-	-	-,-	-,-	COSMIC,ICGC,
chr7	158079061	158079061	C	T	intronic	PTPRN2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	homeostasis/metabolism phenotype	-	ICGC,
chr5	32310094	32310094	C	T	intronic	MTMR12	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	Autism	ICGC,
chr2	167779581	167779581	G	C	intronic	XIRP2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15483333	-	OV-AU|1|93|0.01075	-	-	integument phenotype	Schizophrenia	COSMIC,COSMIC,COSMIC,COSMIC,ICGC,
chr3	42411761	42411761	T	C	intergenic	CCK,LYZL4	unknown	SNV	-	-	-	0.0090	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	endocrine/exocrine gland phenotype,-	Panic disorder, protection against, association with|Panic disorder, association with,-	ICGC,
chr18	61552704	61552704	G	A	intergenic	SERPINB7,SERPINB2	unknown	SNV	-	-	-	-	rs527732313	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	Palmoplantar keratosis, Nagashima-type,Cervical artery dissection	ICGC,
chr6	96009146	96009146	T	C	ncRNA_intronic	MANEA-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6339249	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr6	147091537	147091537	T	C	intronic	ADGB	unknown	SNV	-	-	-	0.0141	rs118169916	-	0.00479233	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr20	54171396	54171396	G	A	intergenic	LINC01441,CBLN4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,normal phenotype	-,-	ICGC,
chr18	61021402	61021402	G	A	intronic	KDSR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-	-	ICGC,
chr3	121372504	121372504	G	C	intronic	HCLS1	unknown	SNV	-	-	-	0.0001	rs567447245	-	0.000199681	-	-	-	-	LAML-KR|1|205|0.00488	-	-	hematopoietic system phenotype	Systemic lupus erythematosus, association with	ICGC,
chr9	103032514	103032514	C	G	intronic	INVS	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN4943309	-	BRCA-UK|1|141|0.00709,BRCA-EU|1|569|0.00176	-	-	mortality/aging	Situs inversus with cardiac defects|Nephronophthisis-related ciliopathy|Nephronophthisis 2|Nephronophthisis & ciliary dysgenesis	COSMIC,COSMIC,ICGC,
chr21	18326927	18326927	C	A	intergenic	LINC00478,C21orf37	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	-,-	ICGC,
chr10	17078834	17078834	A	G	intronic	CUBN	unknown	SNV	-	-	-	9.689e-05	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Pulmonary atresia  |Proteinuria  |Potential protein deficiency|Megaloblastic anaemia|Imerslund-Gräsbeck syndrome|High HDL cholesterol|Albuminuria, association with	ICGC,
chr8	51722317	51722317	A	T	intergenic	SNTG1,PXDNL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Autism|Intellectual disability, cleft palate, hearing loss and dysmorphisms,-	ICGC,
chr1	76712572	76712572	G	A	intronic	ST6GALNAC3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5744098	-	LINC-JP|1|394|0.00254	-	-	-	-	COSMIC,ICGC,
chr3	80874446	80874446	-	A	intergenic	ROBO1,GBE1	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN23191668	-	-	-	-	mortality/aging,mortality/aging	Developmental dyslexia ,Potential protein deficiency|Polyglucosan body disease, relapsing-remitting form|Polyglucosan body disease, adult|Lethal multiple pterygium syndrome|Glycogen storage disease 4, non-lethal neuromuscular|Glycogen storage disease 4, neonatal|Glycogen storage disease 4|Autism spectrum disorder|Adult polyglucosan body disease	COSMIC,
chr12	56776010	56776010	G	A	intergenic	APOF,TIMELESS	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	cellular phenotype,mortality/aging	-,-	ICGC,
chr20	56751007	56751007	G	A	intergenic	C20orf85,PPP4R1L	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr8	63363862	63363862	C	T	intronic	NKAIN3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Dravet syndrome   	ICGC,
chr11	58245739	58245739	G	A	intergenic	OR5B12,OR5B21	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN14910101	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr16	13853208	13853208	C	T	intergenic	SHISA9,ERCC4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Xeroderma pigmentosum (F)|Progeroid syndrome|Potential protein deficiency|Lung cancer, susceptibility to|Fanconi anaemia|Combined xeroderma pigmentosum, cockayne syndrome and fanconi anaemia|Cockayne syndrome|Breast cancer  |Breast and/or ovarian cancer|Bladder cancer, increased risk, association with	ICGC,
chr3	95740892	95740892	A	T	intergenic	MTHFD2P1,MIR8060	unknown	SNV	-	-	-	-	rs377060306	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr10	46170993	46170993	A	C	intergenic	ZFAND4,FAM21C	unknown	SNV	-	-	-	3.235e-05	-	-	-	-	-	COSN9209456	-	OV-AU|1|93|0.01075	-	-	-,-	-,-	COSMIC,ICGC,
chr16	63749351	63749351	T	A	intergenic	CDH8,CDH11	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1704749	-	LIRI-JP|1|258|0.00388	-	-	integument phenotype,integument phenotype	Learning disability  |Autism & learning disability ,-	COSMIC,COSMIC,ICGC,
chr3	154948055	154948055	T	A	intergenic	MME,LOC100507537	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Alzheimer disease, association with|Anxiety, association with|Cerebral amyloid angiopathy, severity, association with|Fetomaternal alloimmunisation|Increased enzyme activity|Reduced enzyme activity,-	ICGC,
chr12	97477504	97477504	C	T	intergenic	NEDD1,RMST	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	144256568	144256568	T	A	intergenic	KCTD16,PRELID2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr2	58256543	58256543	C	A	intronic	VRK2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7077521	-	PACA-AU|1|391|0.00256	-	-	-	-	COSMIC,ICGC,
chr11	95150898	95150898	G	A	intergenic	LOC100129203,FAM76B	unknown	SNV	-	-	-	0.0007	rs138596704	-	0.000998403	-	-	COSN21111667	-	BRCA-UK|1|141|0.00709,BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr1	196247999	196247999	C	T	intronic	KCNT2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr16	51915975	51915975	C	A	intergenic	LOC101927364,C16orf97	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16690031	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	COSMIC,ICGC,
chr6	62944057	62944057	-	A	intronic	KHDRBS2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr1	49727478	49727478	C	T	intronic	AGBL4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27682514	-	NKTL-SG|1|50|0.02000	-	-	-	Autism spectrum disorder, association with	COSMIC,ICGC,
chr5	136047232	136047232	T	C	intergenic	TRPC7,SPOCK1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5069535	-	LINC-JP|1|394|0.00254	-	-	vision/eye phenotype,normal phenotype	-,Developmental delay & microcephaly	COSMIC,ICGC,
chr13	43839987	43839987	C	A	intronic	ENOX1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	UTCA-FR|1|20|0.05000	-	-	-	Myasthenia gravis, adult-onset autoimmune	ICGC,
chr1	195102831	195102831	C	T	intergenic	CDC73,KCNT2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Potential protein deficiency|Parathyroid carcinoma/adenoma|Parathyroid carcinoma.|Parathyroid carcinoma|Parathyroid cancer|Parathyroid adenoma.|Parathyroid adenoma |Hyperparathyroidism, primary.|Hyperparathyroidism, primary|Hyperparathyroidism, isolated|Hyperparathyroidism-jaw tumour syndrome.|Hyperparathyroidism-jaw tumour syndrome,-	ICGC,
chr5	161252007	161252007	T	C	intergenic	GABRA6,GABRA1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24950649	-	LICA-FR|1|252|0.00397	-	-	behavior/neurological phenotype,mortality/aging	Idiopathic epilepsy, generalised ,Myoclonic epilepsy, juvenile|Epileptic encephalopathy  |Epilepsy, idiopathic generalised  |Epilepsy, idiopathic  |Dravet syndrome   |Childhood absence epilepsy|Altered promoter activity	COSMIC,ICGC,
chr15	72091398	72091398	-	ACTTCATT	intergenic	THSD4,NR2E3	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,vision/eye phenotype	-,Schizophrenia  |Retinitis pigmentosa, autosomal recessive|Retinitis pigmentosa, autosomal dominant|Retinitis pigmentosa|Helicoid subretinal fibrosis|Goldmann-Favre syndrome|Enhanced S cone syndrome, association with|Enhanced S cone syndrome|Cone-rod dystrophy	ICGC,
chr13	45172668	45172668	C	A	intergenic	TSC22D1-AS1,LINC00330	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr1	111396234	111396234	CC	TT	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr19	32363557	32363557	C	T	intergenic	THEG5,CTC-360P9.3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,-	-,-	ICGC,
chr16	50933309	50933309	C	A	intergenic	CYLD,LOC101927334	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,-	Brooke-Spiegler syndrome|Brooke-Spiegler syndrome.|Brooke-Spiegler syndrome/Trichoepithelioma, multiple familial.|Cylindromatosis|Cylindromatosis, familial|Trichoepithelioma, multiple familial,-	ICGC,
chr12	31132377	31132377	G	A	intronic	TSPAN11	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22227008	-	BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr16	83205427	83205427	C	T	intronic	CDH13	unknown	SNV	-	-	-	3.232e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Higher adiponectin levels|Amyotrophic lateral sclerosis 	ICGC,
chr4	119148508	119148508	C	T	intronic	NDST3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging	-	ICGC,
chr8	90144153	90144153	C	T	intergenic	MMP16,RIPK2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,hematopoietic system phenotype	-,Autism spectrum disorder	ICGC,
chr10	57945704	57945704	T	G	intergenic	MTRNR2L5,ZWINT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	155197067	155197067	T	G	downstream	PLCH1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr11	10919662	10919662	G	A	intergenic	ZBED5-AS1,GALNT18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr6	80206075	80206075	A	C	intronic	LCA5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	vision/eye phenotype	Leber congenital amaurosis|Retinal dystrophy, early-onset|Retinitis pigmentosa	ICGC,
chr3	51004069	51004069	GG	AA	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr21	18326500	18326500	C	T	intergenic	LINC00478,C21orf37	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr4	165106657	165106657	C	T	intronic	MARCH1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype	-	ICGC,
chr5	15936977	15936977	C	T	exonic	FBXL7	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM4683904	-	-	-	-	-	-	COSMIC,
chr3	184466504	184466522	TTCTCCCTCTCCCCCTGCA	-	intergenic	MAGEF1,LOC101928992	unknown	deletion	-	-	-	-	-	-	-	-	-	COSN19511609	-	-	-	-	-,-	-,-	COSMIC,
chr18	32530491	32530491	C	T	intergenic	DTNA,MAPRE2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Left ventricular noncompaction with CHD,-	ICGC,
chrX	117259264	117259264	A	G	intergenic	KLHL13,WDR44	unknown	SNV	-	-	-	-	rs771689077	-	0.000264901	-	-	COSN27927184	-	PRAD-CA|1|308|0.00325	-	-	-,normal phenotype	Peripheral neuropathy  ,-	COSMIC,ICGC,
chr6	46657611	46657611	C	T	exonic	TDRD6	synonymous	SNV	-	-	5.685e-05	6.456e-05	rs143534526	8.237e-05	0.000399361	0.0002	-	COSM3874520	STAD|2|395|0.00506,STES|2|395|0.00506	COCA-CN|1|321|0.00312,STAD-US|1|289|0.00346	-	-	reproductive system phenotype	-	COSMIC,TCGA,ICGC,
chr4	126264277	126264277	G	T	intronic	FAT4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN4825393	-	MALY-DE|1|241|0.00415	-	-	mortality/aging	Periventricular neuronal heterotopia|Schizophrenia	COSMIC,ICGC,
chr2	227045523	227045523	A	G	downstream	LOC646736	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-JP|1|585|0.00171	-	-	-	-	ICGC,
chr7	157680919	157680919	C	A	intronic	PTPRN2	unknown	SNV	-	-	-	0.0158	rs74856904	-	0.0585064	-	0.029	-	-	LAML-KR|1|205|0.00488	-	-	homeostasis/metabolism phenotype	-	ICGC,
chr8	28452809	28452809	T	C	intergenic	FZD3,EXTL3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24848217	-	PBCA-DE|1|499|0.00200	-	-	mortality/aging,mortality/aging	Neural tube defects ,Multiple exostoses 	COSMIC,ICGC,
chr4	172927545	172927545	G	A	intronic	GALNTL6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr4	155578220	155578220	T	C	intergenic	FGG,LRAT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,vision/eye phenotype	Menorrhagia|Hypofibrinogenaemia with hepatic storage|Hypofibrinogenaemia|Hypodysfibrinogenaemia|Fibrinogen variant|Epistaxis, recurrent|Dysfibrinogenaemia|Deep venous thrombosis, increased risk, association with|Afibrinogenaemia / hypofibrinogenaemia|Afibrinogenaemia,Usher syndrome |Retinitis punctata albescens|Retinitis pigmentosa |Retinal dystrophy, early-onset severe|Retinal dystrophy, early-onset|Leber congenital amaurosis	ICGC,
chr11	51428347	51428347	C	T	intergenic	OR4A5,OR4C46	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|3|183|0.01639	-	-	-,-	-,-	ICGC,
chr13	88284492	88284492	A	T	ncRNA_intronic	MIR4500HG	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	NKTL-SG|1|50|0.02000	-	-	-	-	ICGC,
chrX	19884230	19884230	G	A	intronic	SH3KBP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	integument phenotype	-	ICGC,
chr5	54456098	54456098	T	G	exonic	GPX8	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM6674741	-	-	-	-	-	-	COSMIC,
chr8	69189333	69189333	G	A	intergenic	PREX2,LOC286189	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,-	-,-	ICGC,
chr7	126392711	126392711	G	A	intronic	GRM8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	Attention deficit hyperactivity disorder|Autism spectrum disorder  	ICGC,
chr11	128026484	128026484	A	C	intergenic	LOC101929497,ETS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,mortality/aging	-,Systemic lupus erythematosus, association with	ICGC,
chr11	34443379	34443379	C	T	intergenic	ABTB2,CAT	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1529737	-	LIRI-JP|1|258|0.00388	-	-	-,mortality/aging	-,Vitiligo susceptibility, association with|Lower catalase activity|Low blood catalase levels, association with|Hypertension, susceptibility to, association|Diabetes mellitus, type 2|Decr. catalase levels in response to oxidative stress, association with.|Bone mineral density, association with|Asthma, protection against, association with|Altered promoter activity|Altered glucose homeostasis|Acatalasaemia	COSMIC,ICGC,
chr2	160245603	160245603	-	CAAC	intronic	BAZ2B	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr1	162997249	162997249	A	G	intergenic	C1orf110,RGS4	unknown	SNV	-	-	-	-	rs538063429	-	0.000199681	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,integument phenotype	-,-	ICGC,
chr12	85988383	85988383	C	A	intergenic	ALX1,RASSF9	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24637799	-	GACA-CN|1|123|0.00813	-	-	mortality/aging,integument phenotype	Microphthalmia with facial clefting|Mental retardation, language delay & microcephaly |Autism spectrum disorder,-	COSMIC,ICGC,
chr6	118725417	118725417	C	T	intergenic	SLC35F1,CEP85L	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6512722	-	LINC-JP|1|394|0.00254	-	-	-,-	-,-	COSMIC,ICGC,
chr6	121069155	121069155	T	G	intergenic	LOC285762,TBC1D32	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,Oro-facio-digital syndrome type IX	ICGC,
chr8	6118849	6118849	C	G	intergenic	CSMD1,LOC100287015	unknown	SNV	-	-	-	0.0005	rs188482830	-	0.000399361	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	Schizophrenia, association with |Hyperinsulinism|Autism|Attention deficit hyperactivity disorder ,-	ICGC,
chr13	59483890	59483890	A	T	intergenic	LOC101926897,DIAPH3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,Autism  |Auditory neuropathy spectrum disorder|Auditory neuropathy	ICGC,
chr11	17703783	17703783	A	G	intergenic	OTOG,MYOD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	reproductive system phenotype,mortality/aging	Hearing impairment, nonsyndromic,-	ICGC,
chr6	67498972	67498972	-	TAATATAATA	intergenic	SLC25A51P1,BAI3	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|2|67|0.02985	-	-	-,-	-,-	ICGC,
chr19	58349070	58349073	CCTC	-	intronic	ZNF587B	unknown	deletion	-	-	-	-	-	-	-	-	-	COSN25008421	-	LICA-FR|1|252|0.00397	-	-	-	-	COSMIC,ICGC,
chr11	16819902	16819902	A	G	intronic	PLEKHA7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-	-	ICGC,
chr6	71679383	71679383	G	C	intergenic	B3GAT2,OGFRL1	unknown	SNV	-	-	-	0.1469	rs62420343	-	0.186502	-	0.167	-	-	ESAD-UK|2|301|0.00664	-	-	-,-	-,-	ICGC,
chr13	100864837	100864837	C	T	intronic	PCCA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Propionic acidaemia	ICGC,
chr10	122173638	122173638	G	A	intergenic	MIR4682,PPAPDC1A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr6	62369034	62369034	C	T	intergenic	MTRNR2L9,KHDRBS2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr2	140149800	140149800	G	A	intergenic	YY1P2,LRP1B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Schizophrenia   	ICGC,
chr1	199946100	199946100	C	A	intergenic	LINC01222,NR5A2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,mortality/aging	-,-	ICGC,
chr5	25700301	25700301	C	A	intergenic	LOC340107,CDH9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr8	16157021	16157021	G	T	intergenic	MSR1,FGF20	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24557724	-	GACA-CN|1|123|0.00813	-	-	mortality/aging,hearing/vestibular/ear phenotype	Prostate cancer, association with|Prostate cancer|Chronic obstructive pulmonary disease, in smokers, association with|Barrett oesophagus/oesophageal adenocarcinoma|Atherosclerosis, increased risk, association with,Larger hippocampal volume, association with|Parkinson disease, increased risk, association with	COSMIC,ICGC,
chr4	180993248	180993248	C	T	intergenic	LINC01098,LINC00290	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	CLLE-ES|1|510|0.00196	-	-	-,-	-,-	ICGC,
chrX	150442731	150442731	G	A	intergenic	GPR50,VMA21	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24253758	-	BRCA-FR|1|72|0.01389	-	-	behavior/neurological phenotype,-	-,X-linked myopathy with excessive autophagy	COSMIC,ICGC,
chrX	136218436	136218436	C	T	intergenic	GPR101,ZIC3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Situs abnormality|Heterotaxy|Congenital heart disease |Cardiac malformation	ICGC,
chr4	78330444	78330444	T	C	intergenic	CCNG2,CXCL13	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BOCA-UK|1|130|0.00769	-	-	-,hematopoietic system phenotype	-,-	ICGC,
chrX	141736100	141736100	A	G	intergenic	MAGEC2,SPANXN4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9183219	-	OV-AU|1|93|0.01075	-	-	-,-	-,-	COSMIC,ICGC,
chr2	141010258	141010258	G	A	intronic	LRP1B	unknown	SNV	-	-	-	6.488e-05	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813,PRAD-CA|1|308|0.00325,PBCA-US|1|186|0.00538	-	-	mortality/aging	Schizophrenia   	ICGC,
chrX	22111654	22111654	G	T	intronic	PHEX	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19293757	-	CLLE-ES|1|510|0.00196	-	-	mortality/aging	Rickets, hypophosphataemic|Paravertebral ligament ossification, in vitamin-D resistant rickets|Hypophosphataemia 	COSMIC,ICGC,
chr3	69987480	69987480	C	T	intronic	MITF	unknown	SNV	-	-	0.0126	0.0130	rs78545229	0.0217	0.0197684	0.0098	0.036	COSN17143283	-	LICA-CN|1|402|0.00249	-	-	integument phenotype	Waardenburg syndrome 2A|Waardenburg syndrome 2.|Waardenburg syndrome 2|Waardenburg syndrome|Tietz/Waardenburg type 2A-like syndrome|Tietz syndrome|Reduced expression|Melanoma / renal cell carcinoma, association with|Melanoma	COSMIC,COSMIC,COSMIC,ICGC,
chr8	110959366	110959366	C	T	intergenic	SYBU,KCNV1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,behavior/neurological phenotype	-,-	ICGC,
chr13	21104484	21104484	C	A	intergenic	CRYL1,IFT88	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21637781	-	BRCA-EU|1|569|0.00176	-	-	-,integument phenotype	Intellectual disability, short stature and hearing loss,-	COSMIC,ICGC,
chr6	50638650	50638650	C	T	intergenic	DEFB112,TFAP2D	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-,cellular phenotype	-,Schizophrenia	ICGC,
chr3	75019539	75019539	A	G	intergenic	CNTN3,MIR4444-1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	ICGC,
chr4	88187894	88187894	A	G	intergenic	KLHL8,MIR5705	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2457460	-	-	-	-	no phenotypic analysis,-	-,-	COSMIC,
chr17	78721520	78721520	G	A	intronic	RPTOR	unknown	SNV	-	-	-	6.46e-05	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging	Altered splicing |Macular degeneration, age related, protection against 	ICGC,
chr6	156186314	156186314	T	-	intergenic	NOX3,ARID1B	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	behavior/neurological phenotype,-	-,Schizophrenia|Nicolaides-Baraitser syndrome|Intellectual disability, plantar fat pads & facial dysmorphism|Intellectual disability, corpus callosum abnormalities, speech impairment & autism|Intellectual disability & speech impairment|Intellectual disability & agenesis of corpus callossum|Intellectual disability  |Developmental delay, dysmorphic features, dysgenesis of the corpus callosum, limb anomalies & genital hypoplasia|Coffin-Siris syndrome|Autism?|Autism spectrum disorder|Autism	ICGC,
chr12	84711038	84711038	C	A	intergenic	TMTC2,SLC6A15	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,reproductive system phenotype	-,Increased maximal 3H proline uptake	ICGC,
chr2	21705997	21705997	T	G	intergenic	APOB,LOC645949	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8983361	-	OV-AU|1|93|0.01075	-	-	mortality/aging,-	Hypocholesterolaemia, association with|Hypocholesterolaemia|Hypobetalipoproteinemia-induced nonalcoholic steatohepatitis|Hypobetalipoproteinaemia.|Hypobetalipoproteinaemia|Hypertriglyceridaemia |Hypocholesterolaemia, steatosis and liver cancer|Increased apoB and cholesterol levels, association with|Increased cholesterol levels|Increased LDL cholesterol levels|Ischaemic stroke, association with |Oligoasthenoteratozoospermia, association with|Oxidised low-density lipoprotein levels, association with|Total cholesterol levels, association with|Hypercholesterolemia, association with|Hypercholesterolaemia, association with|Altered APOB levels |Altered binding affinity|Aortic stenosis, association with|Apolipoprotein B deficiency|Cerebrovascular disease events, association with|Coronary artery disease, association with|Coronary heart disease|Coronary heart disease, association with|Hypercholesterolaemia ?|Hypercholesterolaemia|Hepatitis C virus infection, association with|HDL cholesterol, association with |Diabetes, MODY|Decreased bone mineral density,-	COSMIC,ICGC,
chr2	63207275	63207275	T	G	intronic	EHBP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr9	122472315	122472317	GCC	-	intergenic	BRINP1,MIR147A	unknown	deletion	-	-	-	0	-	-	-	-	-	-	-	LMS-FR|2|67|0.02985	-	-	-,-	-,-	ICGC,
chr8	2855574	2855574	C	T	exonic	CSMD1	nonsynonymous	SNV	0.803	0.999	2.441e-05	6.46e-05	rs778214225	2.491e-05	-	-	-	COSM1456486	COAD|1|367|0.00272,COADREAD|1|489|0.00204	COAD-US|1|254|0.00394	-	-	-	Schizophrenia, association with |Hyperinsulinism|Autism|Attention deficit hyperactivity disorder 	COSMIC,COSMIC,COSMIC,TCGA,ICGC,
chr6	102150374	102150374	T	G	intronic	GRIK2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	behavior/neurological phenotype	Mental retardation, non-syndromic, autosomal recessive	ICGC,
chr8	115343371	115343371	CC	TT	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr9	88107687	88107687	T	C	intergenic	NTRK2,AGTPBP1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8583675	-	MALY-DE|1|241|0.00415	-	-	mortality/aging,vision/eye phenotype	Anxiety-related traits, association with|Obesity, hyperphagia, and developmental delay,-	COSMIC,ICGC,
chr4	142347217	142347217	C	T	intergenic	LOC100507639,IL15	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,-	ICGC,
chr13	95014707	95014707	C	A	intronic	GPC6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	Omodysplasia|Pancreatic cancer 	ICGC,
chr9	73879770	73879770	C	T	intergenic	TRPM3,TMEM2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Schizophrenia  |Mental retardation,Hepatitis B, chronic, association with	ICGC,
chr7	62255106	62255106	G	A	intergenic	NONE,ZNF733P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr14	72419952	72419952	C	T	intronic	RGS6	unknown	SNV	-	-	-	3.23e-05	rs752272426	-	-	-	-	-	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	cardiovascular system phenotype	Increased protein expression	ICGC,
chr2	169569693	169569693	A	C	intronic	CERS6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr1	42898873	42898873	T	-	exonic	ZMYND12	frameshift	deletion	-	-	-	-	-	-	-	-	-	COSM4450891	-	GACA-JP|1|585|0.00171	-	-	-	-	COSMIC,ICGC,
chr7	26633855	26633855	T	C	intergenic	KIAA0087,C7orf71	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr14	62960049	62960049	C	A	intergenic	LINC00644,KCNH5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,behavior/neurological phenotype	-,Epileptic encephalopathy 	ICGC,
chr3	72085546	72085546	G	A	ncRNA_exonic	LINC00877	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr9	13719400	13719400	C	T	intergenic	FLJ41200,LINC00583	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	ICGC,
chr3	79163048	79163048	T	G	intronic	ROBO1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332,PBCA-DE|1|499|0.00200	-	-	mortality/aging	Developmental dyslexia 	ICGC,
chr13	67302562	67302562	T	A	intronic	PCDH9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr19	19014307	19014307	G	-	intronic	COPE	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	GACA-JP|1|585|0.00171	-	-	-	-	ICGC,
chr5	62688459	62688459	A	C	intergenic	IPO11,HTR1A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Tourette syndrome |Reduced expression|Personality disorders, association with.|Menstrual cycle-dependent fever|Major depression and suicide, association with|Major depression|Impulsive behaviour, association with|Epileptic seizures |Comorbid depression and generalized anxiety, association with|Attenuated agonist-mediated receptor down-regulation and desensitization	ICGC,
chr3	19624014	19624014	T	C	intergenic	KCNH8,EFHB	unknown	SNV	-	-	-	0.0002	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	-,-	-,-	ICGC,
chr9	75636929	75636929	G	A	intergenic	ALDH1A1,ANXA1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6393409	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging,mortality/aging	Decreased promoter activity,Autism spectrum disorder	COSMIC,ICGC,
chr7	31255473	31255473	C	T	intergenic	ADCYAP1R1,NEUROD6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,mortality/aging	Post-traumatic stress disorder, in females, association with,-	ICGC,
chr12	119371270	119371270	T	C	intergenic	SUDS3,SRRM4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	-,-	ICGC,
chr2	57355368	57355368	C	T	intergenic	CCDC85A,VRK2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chrX	71953538	71953538	A	G	intergenic	PHKA1,LOC100132304	unknown	SNV	-	-	-	0.0084	rs369257455	-	-	-	-	COSN9095944	-	OV-AU|1|93|0.01075	-	-	homeostasis/metabolism phenotype,-	Phosphorylase kinase deficiency,-	COSMIC,ICGC,
chr11	49187125	49187125	T	C	intronic	FOLH1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN14508403	-	PACA-AU|1|391|0.00256	-	-	behavior/neurological phenotype	Reduced serum folate|Prostate cancer, protection against, association|Prostate cancer, association with |Increased risk of CAD & miscarriage and reduced risk of autism & cancer, association with|Increased plasma folate levels, association with|Altered plasma folate concentration, association with	COSMIC,ICGC,
chrX	47885544	47885544	G	A	intergenic	SPACA5,ZNF630-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr9	72820811	72820811	C	G	intronic	MAMDC2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	-	ICGC,
chr4	46076421	46076421	C	T	intronic	GABRG1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22335753	-	BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr3	94139128	94139128	A	G	intergenic	NSUN3,LINC00879	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr3	169714622	169714622	C	T	UTR3	SEC62	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr18	24164940	24164940	G	-	intronic	KCTD1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332,LIRI-JP|1|258|0.00388	-	-	-	Scalp-ear-nipple syndrome	ICGC,
chr11	123983662	123983662	T	-	intergenic	OR10G7,VWA5A	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	-,-	Altered receptor function,-	ICGC,
chrX	146275443	146275443	A	G	intergenic	CXorf51A,MIR506	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr4	133383578	133383578	G	T	intergenic	NONE,PCDH10	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16151773	-	PRAD-CA|1|308|0.00325	-	-	-,mortality/aging	-,Schizophrenia|Potential protein deficiency	COSMIC,ICGC,
chr7	119690671	119690671	G	T	intergenic	ANKRD7,KCND2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	-,Epilepsy, temporal lobe	ICGC,
chr2	35428553	35428553	G	T	intergenic	MYADML,LOC100288911	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chrX	145412388	145412388	C	T	intergenic	MIR891A,CXorf51A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr8	36498499	36498499	G	T	intergenic	UNC5D,KCNU1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	-,reproductive system phenotype	-,Schizophrenia  	ICGC,
chr17	9796318	9796318	G	A	intergenic	GLP2R,RCVRN	unknown	SNV	-	-	-	0.0002	rs545851099	-	0.000998403	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging,vision/eye phenotype	-,-	ICGC,
chr11	14206286	14206286	C	T	intronic	SPON1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-	-	ICGC,
chr6	100929906	100929906	G	A	intergenic	SIM1,ASCC3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,other phenotype	Reduced transcriptional activity|Obesity, profound|Obesity, early onset  |Obesity with Prader-Willi syndrome|Obesity,Colorectal cancer, increased risk, association with|Intellectual disability  	ICGC,
chr3	46399566	46399566	A	C	exonic	CCR2	nonsynonymous	SNV	0.013	0.738	-	-	-	-	-	-	-	COSM1718356	-	-	-	-	mortality/aging	Osteoporosis and osteopenia, association with|Increased flow mediated dilation, in prediabetics, association|HIV 1, resistance to, association with|Endometrial cancer, association with|Disease progression in HIV, association with.|Cervical cancer, association|CCancer, increased risk, association with|Asthma protection, association with|Abdominal aortic aneurysm, association with	COSMIC,COSMIC,
chrX	93024609	93024609	T	A	intergenic	FAM133A,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr10	8812719	8812719	G	A	intergenic	LINC00708,LOC101928272	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr8	25365244	25365244	G	C	exonic	CDCA2	nonsynonymous	SNV	0.213	0.03	-	-	-	-	-	-	-	COSM3779148	BLCA|1|396|0.00253	BLCA-US|1|133|0.00752	-	-	-	-	COSMIC,TCGA,ICGC,
chr4	87749695	87749695	C	T	intronic	SLC10A6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr8	113678042	113678042	C	T	intronic	CSMD3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|2|100|0.02000,MELA-AU|1|183|0.00546	-	-	-	Schizophrenia  |Colorectal cancer 	ICGC,
chr4	34406263	34406263	G	A	intergenic	NONE,ARAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	12597353	12597353	G	A	intergenic	MKRN2OS,MKRN2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr4	9640717	9640717	C	T	intergenic	MIR548I2,DRD5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,vision/eye phenotype	-,Schizophrenia  |Receptor variant|Receptor deficiency	ICGC,
chr17	41675560	41675560	G	A	intergenic	ETV4,MEOX1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,integument phenotype	-,Klippel-Feil syndrome	ICGC,
chr4	125126533	125126533	T	A	intergenic	LINC01091,LOC101927087	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9901315	-	RECA-EU|1|422|0.00237	-	-	-,-	-,-	COSMIC,ICGC,
chr3	125571470	125571470	A	G	intergenic	MIR548I1,FAM86JP	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	36270764	36270764	C	T	intergenic	ARPP21,STAC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	nervous system phenotype,-	-,-	ICGC,
chr20	60714168	60714168	T	C	exonic	PSMA7	nonsynonymous	SNV	0.0	1.0	-	-	-	-	-	-	-	COSM1028822	UCEC|1|248|0.00403	UCEC-US|1|250|0.00400	-	-	-	Intellectual disability  	COSMIC,TCGA,ICGC,
chr5	147629311	147629311	G	A	intergenic	SPINK6,LOC102546294	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-,-	-,-	ICGC,
chr21	35534885	35534885	A	G	intergenic	MRPS6,LINC00310	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-,-	-,-	ICGC,
chr2	27216246	27216246	-	A	intronic	MAPRE3	unknown	insertion	-	-	-	3.275e-05	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	hematopoietic system phenotype	-	ICGC,
chr14	75601670	75601670	G	A	exonic	TMED10	nonsynonymous	SNV	0.016	0.999	-	-	-	-	-	-	-	-	ESCA|1|185|0.00541	-	-	-	mortality/aging	-	TCGA,
chr6	163043611	163043611	C	T	intronic	PARK2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Parkinson disease, decreased risk|Parkinson disease, early-onset|Parkinson disease, early-onset.|Parkinson disease, familial|Parkinson disease, familial, association with |Parkinson disease, idiopathic|Parkinson disease, in heterozygosity, association|Parkinson disease, late-onset|Parkinson disease, sporadic, reduced risk|Parkinson disease.|Parkinsonism, juvenile, autosomal recessive|Parkinsonism, late-onset, association with|Rolandic epilepsy |Parkinson disease, autosomal recessive|Parkinson disease, association with|Parkinson disease with resting leg tremor|Attention deficit hyperactivity disorder |Autism spectrum disorder|Cervical artery dissection|Dementia with Lewy bodies|Developmental delay  |Dystonia, dopa-responsive|Leprosy, association with|Lewy bodies|Lung adenocarcinoma   |Multiple system atrophy, cerebellar subtype|Parkinson disease|Parkinson disease with dementia.|Parkinson disease with Lewy bodies	ICGC,
chr5	120480004	120480004	C	A	intergenic	PRR16,LOC102467226	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	ICGC,
chr3	44285211	44285211	G	A	exonic	TOPAZ1	nonsynonymous	SNV	0.83	0.0	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr8	57550894	57550894	C	T	intergenic	LINC00968,IMPAD1	unknown	SNV	-	-	-	-	rs748237295	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Catel-Manzke-like syndrome|Chondrodysplasia & abnormal joint development	ICGC,
chr9	121753870	121753870	C	T	intergenic	TLR4,BRINP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Phenotypic variation in haemochromatosis, association with|Periodontitis, association with|Pancreatic necrotic infection, association with|Negative association with FMF|Nasopharyngeal cancer, increased risk, association with|Moraxella catarrhalis infection, increased risk, association with|Metabolic syndrome, association with|Meningococcal disease susceptibility|Meningococcal disease mortality|Lung function, association with|Lower left ventricular mass, in hypertensive women, association|Increased risk of cirrhosis in chronic hepatitis C ?|Increased liver and body fat, association with|Potential protein deficiency|Preterm birth and premature rupture of membranes, association with|Tuberculosis susceptibility, in HIV-infected patients, association|Serious infection, in HIV-1 patients, association with|Retinitis pigmentosa |Reduced LPS-induced IL-12 secretion, association with|Reduced expression|Pulmonary tuberculosis, susceptibility and severity, association|Pulmonary tuberculosis, severity, association with|Protection from urinary tract infection, association with|Protection against being overweight|Prostate cancer, increased risk|Prostate cancer risk, association with|Primary open-angle, normal-tension, and exfoliation glaucoma, association with.|Typhoid infection, increased risk, association with|Increased IL-4 secretion response to measles vaccination, association|Cutaneous leishmaniasis, association with|Crohn's disease, association with|Colorectal cancer, association with.|Colorectal cancer risk, association with|Cervical cancer, early stage, association with|Cancer, increased risk, association with|Bronchopulmonary Dysplasia, infant, association with|Breast cancer, association with.|Behcet disease, protection against, association with|Altered monocyte receptor levels|Acute pyelonephritis, reduced risk in adults, association with|Acute pyelonephritis, in children, association with|Diabetes, type 2, protection against, association with|Digestive system cancer, increased risk & prostate cancer, protection against, association with|Emphysema, association with|Increased expression|Helicobacter pylori-related gastric atrophy, association with|HBV recurrence after liver transplantation, association with|Guillain-Barré syndrome, association with|Guillain-Barré syndrome, AMAN sub-type, association with|Gastritis, association with|Gastric carcinoma, association with|Endometriosis, association with|Endotoxin hyporesponsiveness, association with|Extra-intestinal manifestations in Crohn's disease, association with.|Gastric adenocarcinoma, association with|Gastric cancer, association with,-	ICGC,
chr4	149159265	149159265	-	A	intronic	NR3C2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	mortality/aging	Myocardial infarction, increased risk, association with|Neonatal stress, association with|Pseudohypoaldosteronism 1|Pseudohypoaldosteronism type 1, autosomal dominant|Reduced expression|Reduced expression, association with|Increased BMI and LDL-cholesterol, association with|Increased blood pressure, association with|Increased amygdala reactivity, with prior childhood emotional neglect, association with.|Autism |Blood pressure variation in response to potassium, association with|Cortisol awakening response in women, association with|Fibromyalgia|Higher ADHD symptom dimensions, association with|Hypertension, early onset exacerbated in pregnancy	ICGC,
chr8	21493750	21493750	A	T	intergenic	LOC101929172,GFRA2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1362566	-	-	-	-	-,integument phenotype	-,-	COSMIC,
chr16	75834405	75834405	T	C	intergenic	TERF2IP,CNTNAP4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	mortality/aging,-	-,Autism	ICGC,
chr1	68418008	68418008	C	T	ncRNA_intronic	GNG12-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22354194	-	BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr5	71666144	71666144	GG	AA	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr12	70935738	70935738	C	T	intronic	PTPRB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	integument phenotype	Drug addiction, association with	ICGC,
chr17	72054852	72054852	A	-	intergenic	LINC00469,RPL38	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	GACA-JP|1|585|0.00171	-	-	-,integument phenotype	-,-	ICGC,
chr3	55844422	55844422	G	A	intronic	ERC2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	vision/eye phenotype	-	ICGC,
chr20	61492227	61492227	C	T	intronic	TCFL5	unknown	SNV	-	-	-	0.2668	rs8121209	-	0.222843	-	0.246	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr1	152434637	152434637	G	T	intergenic	CRNN,LCE5A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1406310	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,Potential protein deficiency	COSMIC,ICGC,
chr11	131019460	131019460	C	T	intergenic	SNX19,NTM	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Autism spectrum disorder|Coronary heart disease, association with,Aortic aneurysm, thoracic & intracranial|Potential protein deficiency	ICGC,
chr9	31329865	31329865	C	A	intergenic	LINC01242,ACO1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,mortality/aging	-,Schizophrenia	ICGC,
chr1	245631024	245631024	C	A	intronic	KIF26B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging	-	ICGC,
chr9	43853764	43853764	A	T	ncRNA_intronic	CNTNAP3P2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20183066	-	PACA-CA|1|268|0.00373	-	-	-	-	COSMIC,ICGC,
chr12	44232637	44232637	C	T	intronic	TMEM117	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BOCA-UK|1|130|0.00769	-	-	-	-	ICGC,
chrX	4002302	4002302	C	T	intergenic	LOC389906,LOC101928201	unknown	SNV	-	-	-	-	rs191806714	-	0.000264901	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr12	41281775	41281775	G	A	intronic	CNTN1	unknown	SNV	-	-	-	0.0195	rs536054018	-	0.0253594	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	mortality/aging	Myopathy, lethal congenital|Pancreatic cancer 	ICGC,
chr6	157363110	157363110	C	G	intronic	ARID1B	unknown	SNV	-	-	-	3.229e-05	rs756658023	-	-	-	-	-	-	OV-AU|1|93|0.01075	-	-	-	Schizophrenia|Nicolaides-Baraitser syndrome|Intellectual disability, plantar fat pads & facial dysmorphism|Intellectual disability, corpus callosum abnormalities, speech impairment & autism|Intellectual disability & speech impairment|Intellectual disability & agenesis of corpus callossum|Intellectual disability  |Developmental delay, dysmorphic features, dysgenesis of the corpus callosum, limb anomalies & genital hypoplasia|Coffin-Siris syndrome|Autism?|Autism spectrum disorder|Autism	ICGC,
chr19	53455221	53455221	A	G	intronic	ZNF816,ZNF816-ZNF321P	unknown	SNV	-	-	-	0.4309	rs12150933	-	0.462859	-	0.536	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	Psoriasis, reduced risk,-	ICGC,
chr5	121874235	121874235	G	A	intergenic	MGC32805,LOC101927379	unknown	SNV	-	-	-	3.232e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	28402257	28402257	G	C	intergenic	LINC01021,LSP1P3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr9	24869087	24869087	T	C	intergenic	IZUMO3,TUSC1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr18	8258416	8258416	C	T	intronic	PTPRM	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	cardiovascular system phenotype	Potential protein deficiency	ICGC,
chr13	65613720	65613720	G	A	intergenic	OR7E156P,PCDH9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	223089135	223089135	T	A	intronic	PAX3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	integument phenotype	Waardenburg syndrome type I|Waardenburg syndrome III|Waardenburg syndrome I.|Waardenburg syndrome I|Waardenburg syndrome|Spina bifida  |Reduced transcription|Hearing loss, syndromic|Craniofacial-deafness-hand syndrome	ICGC,
chr2	41208824	41208824	-	TCC	intergenic	SLC8A1,LOC388942	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	mortality/aging,-	Colorectal cancer, increased risk, association with |Schizophrenia  ,-	ICGC,
chrX	78860543	78860543	G	A	intergenic	ITM2A,TBX22	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,Cleft palate, non-syndromic|Cleft palate and ankyloglossia, association with|Cleft palate and ankyloglossia|Cleft palate|Cleft lip and palate|Ankyloglossia |Abruzzo-Erickson syndrome	ICGC,
chr2	160435508	160435508	G	C	intronic	BAZ2B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr4	18410083	18410083	G	T	intergenic	LCORL,SLIT2	unknown	SNV	-	-	-	3.231e-05	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,mortality/aging	-,Schizophrenia  	ICGC,
chr13	110690819	110690819	C	T	intergenic	IRS2,COL4A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype,mortality/aging	Reduced haemoglobin A1C levels|Longevity, association with|Insulin resistance, severe |Endometriosis, increased risk, association with|Diabetes, type 2, association with|Diabetes, type 2 |Diabetes in overweight people, association with|Altered fasting serum insulin concentration,Porencephaly, intracerebral haemorrhage & white matter disease|Porencephaly, familial|Porencephaly, bilateral|Porencephaly and schizencephaly|Myocardial infarction, protection, association with|Porencephaly, prenatal|Porencephaly, unilateral|Post-ictal hemiparesis|Schizencephaly, bilateral|Schizencephaly, unilateral|Small vessel disease|Stroke, childhood-onset|Walker-Warburg syndrome|Muscle-eye-brain disease|Intraventricular haemorrhage|Acute urinary retention|Angiopathy, nephropathy, aneurysms & muscle cramps|Anterior segment dysgenesis|Arterial stiffness|Axenfeld-Rieger anomaly|Cardiac defects|Foetal intracerebral haemorrhage|Hemiplegia, infantile|Infantile spasms|Intracerebral haemorrhage|Intracerebral haemorrhage, foetal|Intracerebral haemorrhage, late-onset|Intracranial calcification	ICGC,
chr2	6643821	6643821	T	C	intergenic	LINC01247,LINC01246	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr7	149124386	149124386	C	T	intergenic	LOC155060,ZNF777	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19391576	-	-	-	-	-,-	-,-	COSMIC,
chr5	130132772	130132772	C	T	intergenic	CHSY3,HINT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,cellular phenotype	-,Axonal neuropathy with neuromyotonia	ICGC,
chr12	66034037	66034037	C	T	ncRNA_intronic	LOC100507065	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr13	58177653	58177653	G	A	intergenic	PRR20A,PCDH17	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr21	23263600	23263600	T	G	intergenic	LINC01425,LOC101927843	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	13979208	13979208	A	T	intergenic	LINC01182,LINC01085	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN14610570	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	COSMIC,COSMIC,ICGC,
chr5	10388691	10388691	T	C	intronic	MARCH6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr5	149112428	149112428	G	T	intronic	PPARGC1B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	mortality/aging	Obesity, decreased risk, association with|Endurance-related phenotypes, association with|Breast cancer|Airway hyperreactivity, in asthma, association with	ICGC,
chr4	38152006	38152006	C	T	intergenic	TBC1D1,LINC01258	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25537049	-	MALY-DE|1|241|0.00415	-	-	normal phenotype,-	Obesity, association with,-	COSMIC,ICGC,
chr1	152715863	152715863	A	T	intergenic	C1orf68,KPRP	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Potential protein deficiency	ICGC,
chr2	81525769	81525769	T	C	intergenic	CTNNA2,LOC100507201	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Schizophrenia,-	ICGC,
chr20	59833029	59833029	G	A	intronic	CDH4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	cellular phenotype	Reduced expression	ICGC,
chr1	70759778	70759778	A	-	intronic	ANKRD13C	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	OV-AU|1|93|0.01075	-	-	-	-	ICGC,
chr10	104739623	104739623	C	T	intronic	CNNM2	unknown	SNV	-	-	-	0.0010	rs188562686	-	0.00159744	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	Hypomagnesemia  |Mental retardation, seizures & hypomagnesemia	ICGC,
chr11	84571602	84571602	C	A	intronic	DLG2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20300175	-	LUSC-KR|1|170|0.00588	-	-	integument phenotype	Schizophrenia and epilepsy|Myopathy  |Intellectual disability, autism and epilepsy|Hypochondriasis|Dysmorphic features & speech delay|Developmental delay and dysmorphic features|Developmental delay  	COSMIC,ICGC,
chr19	41635804	41635805	TT	-	intergenic	CYP2F1,CYP2S1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,normal phenotype	Occupational chronic bronchitis, association with|CYP2F1 deficiency,-	ICGC,
chr2	57313199	57313199	T	C	intergenic	CCDC85A,VRK2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7136647	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	COSMIC,ICGC,
chr13	60206820	60206820	C	T	intergenic	LOC101926897,DIAPH3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Autism  |Auditory neuropathy spectrum disorder|Auditory neuropathy	ICGC,
chr7	124092208	124092208	A	T	intergenic	LOC101928211,GPR37	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373,MALY-DE|1|241|0.00415	-	-	-,behavior/neurological phenotype	-,Autism spectrum disorder  	ICGC,
chr21	28072260	28072260	T	C	intergenic	CYYR1,ADAMTS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Schizophrenia	ICGC,
chr20	412622	412622	G	T	intergenic	RBCK1,TBC1D20	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	cellular phenotype,-	Polyglucosan body myopathy|Muscular weakness & cardiomyopathy|Immunodeficiency, autoinflammation & amylopectinosis,Warburg Micro syndrome	ICGC,
chr8	134108506	134108506	C	T	exonic	TG	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM3645318	SKCM|1|368|0.00272	SKCM-US|1|335|0.00299,MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype	Thyroid dyshormonogenesis|Thyroid cancer, increased risk, association with|Thyroglobulin retention & hypothyroidism|Potential protein deficiency|Hypothyroidism|Goitre, simple|Goitre, dyshormonogenetic|Autoimmune thyroid disease, association with|Goitre with hypothyroidism|Goitre with hypothyroidism.|Goitre, adenomatous|Goitre, congenital	COSMIC,TCGA,ICGC,
chr10	39037542	39037542	G	A	intergenic	ACTR3BP5,NONE	unknown	SNV	-	-	-	0.0003	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	60163044	60163044	G	C	intergenic	NONE,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25942677	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,COSMIC,COSMIC,ICGC,
chr4	137641858	137641858	C	T	intergenic	LINC00613,PCDH18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Intellectual disability  	ICGC,
chr6	101218216	101218216	A	G	intronic	ASCC3	unknown	SNV	-	-	-	0.1268	rs12205870	-	0.0698882	-	0.109	COSN14905483	-	-	-	-	other phenotype	Colorectal cancer, increased risk, association with|Intellectual disability  	COSMIC,COSMIC,
chr10	122904975	122904975	C	G	intergenic	MIR5694,FGFR2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,integument phenotype	-,Crouzon syndrome with ventricular septal defect.|Crouzon syndrome, atypical|Crouzon syndrome.|Hypospadias |Jackson-Weiss syndrome|Lacrimo-auriculo-dento-digital syndrome|Pfeiffer syndrome|Pfeiffer syndrome, Crouzon syndrome.|Pfeiffer syndrome.|Reduced transcription|Saethre-Chotzen syndrome|Saethre-Chotzen-like|Crouzon syndrome with atrial septal defect.|Crouzon syndrome|Antley-Bixler syndrome|Antley-Bixler, Beare-Stevenson & Pfeiffer syndromes|Apert syndrome|Beare-Stevenson cutis gyrata syndrome|Bent bone dysplasia |Breast cancer, association with.|Breast cancer, increased risk, association with|Breast cancer, reduced risk, association with|Cleft lip and palate|Cleft lip, non-syndromic |Craniosynostosis|Craniosynostosis, predisposition to 	ICGC,
chr2	118673701	118673701	C	A	UTR3	CCDC93	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr9	18280143	18280143	G	A	intergenic	SH3GL2,ADAMTSL1	unknown	SNV	-	-	-	0.2248	rs10810942	-	0.27496	-	0.246	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr5	132117336	132117336	C	T	intergenic	SEPT8,SOWAHA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype,-	-,-	ICGC,
chr5	161180803	161180803	C	T	intergenic	GABRA6,GABRA1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,mortality/aging	Idiopathic epilepsy, generalised ,Myoclonic epilepsy, juvenile|Epileptic encephalopathy  |Epilepsy, idiopathic generalised  |Epilepsy, idiopathic  |Dravet syndrome   |Childhood absence epilepsy|Altered promoter activity	ICGC,
chr12	80037159	80037159	A	C	intronic	PAWR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	hematopoietic system phenotype	Schizophrenia in females, association with	ICGC,
chr6	77736728	77736728	G	A	intergenic	IMPG1,HTR1B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,skeleton phenotype	Macular dystrophy, vitelliform,Suicidal ideation, in major depression, association with|Receptor variant|Alcohol dependence, association with|Alcohol and drug abuse, association with|Aggressive behaviour, association with	ICGC,
chr11	130226204	130226204	G	A	intergenic	ZBTB44,ADAMTS8	unknown	SNV	-	-	-	0.0001	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	107099410	107099410	T	C	intergenic	RGPD3,ST6GAL2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21156929	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr5	164027676	164027676	A	-	intergenic	LOC102546299,NONE	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-,-	-,-	ICGC,
chr5	16359878	16359878	T	A	intergenic	MARCH11,LOC101929505	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr12	14731777	14731777	C	T	ncRNA_intronic	LOC101928290	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr4	139406536	139406536	T	A	intergenic	LINC00499,CCRN4L	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,growth/size phenotype	-,-	ICGC,
chr2	430870	430870	G	A	intergenic	FAM150B,TMEM18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,Obesity  	ICGC,
chr5	99204469	99204469	G	T	intergenic	CTD-2151A2.1,LOC100133050	unknown	SNV	-	-	-	0.1631	rs576106485	-	0.121605	-	-	COSN151461	-	-	-	-	-,-	-,-	COSMIC,
chr1	121160768	121160768	C	T	intergenic	SRGAP2-AS1,EMBP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr7	83636121	83636121	A	C	intronic	SEMA3A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Unexplained cardiac arrest, association with|Short stature & multiple congenital anomalies|Kallmann syndrome|Hirschsprung disease   |Crypt frequency in the iris, association with	ICGC,
chr3	197119075	197119075	G	A	intergenic	DLG1-AS1,BDH1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr16	23163213	23163213	C	A	intergenic	USP31,SCNN1G	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Pseudohypoaldosteronism 1|Potential protein deficiency|Liddle syndrome.|Liddle syndrome|Hypertension|Gain of function|Decreased systolic and pulse pressure, association|Bronchiectasis	ICGC,
chr2	160930136	160930136	G	T	intergenic	PLA2R1,ITGB6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	immune system phenotype,integument phenotype	Microalbuminuria and dysplastic kidney|Membranous nephropathy, association with,Amelogenesis imperfecta|Potential protein deficiency	ICGC,
chr12	21106507	21106507	C	A	intergenic	SLCO1B3,SLCO1B7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	mortality/aging,-	Rotor syndrome|Decreased protein expression|Altered substrate specificity,Schizophrenia	ICGC,
chr2	46712701	46712701	A	C	intergenic	TMEM247,ATP6V1E2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17740247	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chrX	10256735	10256735	C	T	intergenic	CLCN4,MID1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	renal/urinary system phenotype,mortality/aging	Epileptic encephalopathy ,Penoscrotal hypospadias & hypertelorism|Opitz G/BBB syndrome|Intellectual and developmental disabilities|Hypospadias & hypertelorism|Hypospadias|Cardiac malformations|Autism spectrum disorder	ICGC,
chr8	85263862	85263862	-	T	intronic	RALYL	unknown	insertion	-	-	-	0.0001	-	-	-	-	-	-	-	ESAD-UK|2|301|0.00664	-	-	-	-	ICGC,
chr2	20024758	20024758	G	A	intergenic	OSR1,LINC00954	unknown	SNV	-	-	-	3.229e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Reduced newborn kidney size and function, association,-	ICGC,
chr21	23179413	23179413	G	C	intergenic	LINC01425,LOC101927843	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22910186	-	PAEN-IT|1|37|0.02703	-	-	-,-	-,-	COSMIC,ICGC,
chr15	92772216	92772216	G	A	intergenic	SLCO3A1,ST8SIA2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Autism spectrum disorder and epilepsy|Schizophrenia 	ICGC,
chr12	14468613	14468613	C	A	intergenic	GRIN2B,ATF7IP	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging,-	Mental retardation, behavioural anomalies & abnormal EEG|Potential protein deficiency|Schizophrenia, association with|Schizophrenia, association with.|West syndrome|Mental retardation with behavioural anomalies|Intellectual disability  |Huntington disease, earlier onset in females, association with|Focal epilepsy & intellectual disability|Autism spectrum disorder|Autism|Alzheimer disease, increased risk, association with,-	ICGC,
chr5	128281452	128281452	C	T	intergenic	FBN2,SLC27A6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Contractural arachnodactyly|Congenital heart disease ,-	ICGC,
chr13	77480343	77480343	C	A	intergenic	KCTD12,BTF3P11	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr16	73769804	73769804	T	G	intergenic	LOC100506172,LOC101928035	unknown	SNV	-	-	-	0.7757	rs78823358	-	0.984026	-	0.130	COSN6647195	-	-	-	-	-,-	-,-	COSMIC,
chr4	83043350	83043350	G	A	intergenic	RASGEF1B,HNRNPD	unknown	SNV	-	-	-	0.3052	rs67142544	-	0.284145	-	0.275	-	-	ESAD-UK|1|301|0.00332	-	-	-,immune system phenotype	Mental retardation, in chromosome 4q21 deletion syndrome,-	ICGC,
chr1	180538189	180538189	T	C	intergenic	ACBD6,XPR1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,immune system phenotype	Intellectual disability  ,-	ICGC,
chr11	92984921	92984921	G	A	intergenic	SLC36A4,CCDC67	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	154842130	154842130	G	T	exonic	KCNN3	nonsynonymous	SNV	0.0	0.991	-	-	-	-	-	-	-	-	BLCA|1|396|0.00253	-	-	-	mortality/aging	Susceptibility to anorexia nervosa, association with|Schizophrenia, association with|Schizophrenia |Juvenile myoclonic epilepsy, decreased risk, association|Ataxia, association with	TCGA,
chr15	31918495	31918495	C	T	intronic	OTUD7A	unknown	SNV	-	-	-	0.3210	rs11071236	-	0.351038	-	0.333	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr7	53412817	53412817	G	T	intergenic	POM121L12,LINC01446	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	CLLE-ES|1|510|0.00196	-	-	-,-	-,-	ICGC,
chr5	60357021	60357021	G	A	intronic	NDUFAF2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Mitochondrial encephalomyopathy with dysmorphism & hepatopathy|Mitochondrial complex I deficiency|Complex I deficiency	ICGC,
chr9	23924281	23924281	-	C	intergenic	ELAVL2,IZUMO3	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	CLLE-ES|1|510|0.00196	-	-	-,-	Schizophrenia, association with  ,-	ICGC,
chr6	118503677	118503677	-	AGGAAG	intronic	SLC35F1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	-	ICGC,
chr2	214901939	214901939	T	A	intronic	SPAG16	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	reproductive system phenotype	Instability of central apparatus proteins	ICGC,
chr15	33625687	33625687	A	C	intronic	RYR3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25259779	-	MALY-DE|1|241|0.00415	-	-	behavior/neurological phenotype	Schizophrenia|Hyperinsulinism|Breast cancer, increased risk, association with  	COSMIC,ICGC,
chr3	69991599	69991599	A	G	intronic	MITF	unknown	SNV	-	-	-	3.232e-05	-	-	-	-	-	COSN1280405	-	LINC-JP|1|394|0.00254	-	-	integument phenotype	Waardenburg syndrome 2A|Waardenburg syndrome 2.|Waardenburg syndrome 2|Waardenburg syndrome|Tietz/Waardenburg type 2A-like syndrome|Tietz syndrome|Reduced expression|Melanoma / renal cell carcinoma, association with|Melanoma	COSMIC,ICGC,
chr9	23190013	23190013	T	A	intergenic	LINC01239,LOC101929563	unknown	SNV	-	-	-	6.48e-05	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	ICGC,
chr9	40878266	40878266	T	A	intergenic	ZNF658,FAM74A1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN14791714	-	-	-	-	-,-	-,-	COSMIC,
chrX	34487624	34487624	A	C	intergenic	FAM47A,TMEM47	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,Intellectual disability & language delay	ICGC,
chr13	74749242	74749242	T	G	intergenic	KLF12,LINC00381	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1161638	-	LINC-JP|1|394|0.00254	-	-	-,-	-,-	COSMIC,ICGC,
chr4	36493764	36493764	C	-	intergenic	DTHD1,MIR4801	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	Leber congenital amaurosis with myopathy,-	ICGC,
chr1	52250260	52250260	-	T	intronic	OSBPL9	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-	-	ICGC,
chr9	114892143	114892143	G	A	ncRNA_intronic	MIR3134	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr8	20662477	20662477	C	T	intergenic	LZTS1-AS1,LOC286114	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	113182493	113182493	G	A	intronic	CAPZA1	unknown	SNV	-	-	-	0.0002	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr7	30857023	30857023	T	-	ncRNA_intronic	INMT-FAM188B	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332,BRCA-EU|1|569|0.00176	-	-	-	-	ICGC,
chr12	61631001	61631001	G	A	intergenic	SLC16A7,FAM19A2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Autism spectrum disorder,-	ICGC,
chr11	15187057	15187057	A	G	intronic	INSC	unknown	SNV	-	-	-	0.0776	rs78378784	-	0.0623003	-	0.022	-	-	ESAD-UK|1|301|0.00332	-	-	cellular phenotype	-	ICGC,
chr4	72954147	72954147	C	T	intronic	NPFFR2	unknown	SNV	-	-	-	6.469e-05	-	-	-	-	-	COSN16940956	-	PACA-CA|1|268|0.00373	-	-	-	Autism	COSMIC,ICGC,
chr10	27538942	27538942	T	C	ncRNA_exonic	LRRC37A6P	unknown	SNV	-	-	0.2581	0.2074	rs590142	0.2578	0.289736	0.1929	0.181	COSN15303263	GBMLGG|1|820|0.00122,HNSC|1|512|0.00195,LGG|1|530|0.00189	BRCA-KR|1|50|0.02000,LUSC-KR|1|170|0.00588	-	-	-	-	COSMIC,COSMIC,COSMIC,COSMIC,COSMIC,TCGA,ICGC,
chr3	177935590	177935590	A	C	intergenic	LOC102724550,LINC01014	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16794603	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	COSMIC,ICGC,
chr16	69718897	69718897	A	C	intronic	NFAT5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9651658	-	RECA-EU|1|422|0.00237	-	-	mortality/aging	Autism spectrum disorder	COSMIC,ICGC,
chr2	54885832	54885832	T	C	intronic	SPTBN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	integument phenotype	-	ICGC,
chr3	134130301	134130301	C	G	intergenic	AMOTL2,MIR4788	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15560969	-	OV-AU|1|93|0.01075	-	-	-,-	-,-	COSMIC,COSMIC,ICGC,
chr15	62113786	62113786	C	T	intergenic	RORA,VPS13C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Obesity,Schizophrenia  	ICGC,
chr1	160175190	160175190	G	A	ncRNA_exonic	LOC729867	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr7	15513050	15513050	A	C	intronic	AGMO	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr10	6158989	6158989	G	T	UTR3	RBM17	unknown	SNV	-	-	-	0.0074	rs76367377	-	0.0341454	-	0.029	-	-	LUSC-KR|1|170|0.00588	-	-	-	-	ICGC,
chr3	68542130	68542130	T	C	intronic	FAM19A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr5	28471365	28471365	C	T	intergenic	LINC01021,LSP1P3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr17	22169113	22169113	G	A	intergenic	MTRNR2L1,NONE	unknown	SNV	-	-	-	3.257e-05	rs755145237	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chrX	12831224	12831224	C	G	intronic	PRPS2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9178713	-	OV-AU|1|93|0.01075	-	-	-	-	COSMIC,ICGC,
chr11	33672636	33672636	C	T	intronic	KIAA1549L	unknown	SNV	-	-	-	9.69e-05	rs761299254	-	-	-	-	COSN5907789	-	LIRI-JP|1|258|0.00388	-	-	integument phenotype	-	COSMIC,ICGC,
chr4	135598843	135598843	T	C	intergenic	PABPC4L,LINC00613	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	Autism spectrum disorder  ,-	ICGC,
chr12	100258176	100258176	G	A	intronic	ANKS1B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-	Sertoli-cell-only syndrome|Schizophrenia  	ICGC,
chr15	100387210	100387210	C	G	intergenic	DNM1P46,ADAMTS17	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,Weill-Marchesani-like syndrome|Spherophakia with short stature|Short stature|Schizophrenia  	ICGC,
chr11	120161519	120161519	G	A	intronic	POU2F3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312,ESAD-UK|1|301|0.00332	-	-	integument phenotype	-	ICGC,
chr3	131478892	131478895	ACTC	-	intronic	CPNE4	unknown	deletion	-	-	-	-	-	-	-	-	-	COSN23385029	-	MALY-DE|1|241|0.00415	-	-	-	-	COSMIC,ICGC,
chr4	127575571	127575571	C	T	intergenic	MIR2054,INTU	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	-,mortality/aging	-,Anorectal malformation	ICGC,
chr13	113413223	113413223	C	T	intronic	ATP11A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr18	4364876	4364876	G	A	intronic	DLGAP1	unknown	SNV	-	-	-	3.231e-05	rs533609531	-	0.000199681	-	-	COSN18916261	-	-	-	-	-	Schizophrenia  	COSMIC,
chr6	28513019	28513019	C	T	intergenic	GPX5,ZBED9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	reproductive system phenotype,-	-,-	ICGC,
chr1	2943469	2943469	C	T	intergenic	ACTRT2,LINC00982	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|3|183|0.01639	-	-	-,-	-,-	ICGC,
chrX	81813119	81813119	A	-	intergenic	SH3BGRL,POU3F4	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-,integument phenotype	-,X-linked mixed deafness|X-linked deafness|Sensorineural hearing loss  |Mixed hearing loss |Hearing loss, X-linked nonsyndromic|Hearing loss & mental retardation	ICGC,
chr10	72211821	72211822	CA	-	intergenic	NODAL,PALD1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,no phenotypic analysis	Transposition of the great arteries|Tetralogy of Fallot|Situs ambiguus|Reduced activity|Patent ductus arteriosus.|Double outlet right ventricle|Congenital heart disease,-	ICGC,
chr22	29391926	29391926	G	A	intronic	ZNRF3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	-	ICGC,
chr6	92818519	92818519	C	T	intergenic	CASC6,EPHA7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-,nervous system phenotype	-,Development delay and dysmorphic features|Leukemia, risk, association with 	ICGC,
chr3	72922979	72922979	G	A	intergenic	SHQ1,GXYLT2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Schizophrenia	ICGC,
chr2	59310617	59310617	C	A	intergenic	LINC01122,LOC101927285	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BOCA-UK|1|130|0.00769	-	-	-,-	-,-	ICGC,
chr16	24435694	24435694	G	A	intergenic	CACNG3,RBBP6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,mortality/aging	-,-	ICGC,
chr3	161037334	161037334	C	A	intergenic	NMD3,SPTSSB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr5	52351441	52351441	G	A	exonic	ITGA2	nonsynonymous	SNV	0.0	1.0	-	-	-	-	-	-	-	COSM4847385	CESC|1|194|0.00515	BRCA-EU|1|569|0.00176,CESC-US|1|194|0.00515	-	-	integument phenotype	Unstable angina pectoris, association with|Reduced transcription|Reduced platelet count nadir, association with.|Reduced colorectal cancer risk|Reduced collagen-induced aggregation|Oral cancer, association with|Myocardial infarction, association with|Glanzmann thrombasthenia, milder phenotype, association with|Fetal/neonatal alloimmune thrombocytopenia|Coronary artery disease, protection, association with|Alloimmune thrombocytopenia, neonatal, association with	COSMIC,COSMIC,TCGA,ICGC,
chr5	3775547	3775547	C	A	intergenic	IRX1,LOC101929153	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	ICGC,
chr7	98782633	98782633	G	A	exonic	KPNA7	synonymous	SNV	-	-	0.0003	0.0013	rs112225309	0.0004	0.000798722	0.0013	0.007	-	-	LINC-JP|1|394|0.00254	not_specified	-	-	Infantile spasms, intractable epilepsy & cerebellar malformation	ClinVar,ICGC,
chr9	8109581	8109581	G	A	intergenic	TMEM261,PTPRD	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2328562	-	LIRI-JP|1|258|0.00388	-	-	-,integument phenotype	-,Restless legs syndrome, association with|Ewing sarcoma	COSMIC,ICGC,
chr6	146875734	146875734	G	A	exonic	RAB32	nonsynonymous	SNV	0.001	0.901	-	-	-	-	-	-	-	COSM740679	LUSC|1|178|0.00562	LUSC-US|1|194|0.00515	-	-	-	-	COSMIC,TCGA,ICGC,
chr8	49897869	49897869	T	G	intergenic	SNAI2,C8orf22	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,-	Neural tube defect|Piebaldism|Tetralogy of Fallot|Waardenburg syndrome,-	ICGC,
chr13	107466876	107466876	A	G	intergenic	LINC00443,FAM155A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21206601	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr9	17247900	17247900	C	T	intronic	CNTLN	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr13	112248538	112248538	C	T	intergenic	TEX29,LINC00354	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	113664923	113664923	G	A	intronic	LRIG2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Bladder disease, non-syndromic|Urofacial syndrome	ICGC,
chr3	434180	434180	T	A	intronic	CHL1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5003185	-	ESAD-UK|1|301|0.00332	-	-	behavior/neurological phenotype	Tetralogy of Fallot|Schizophrenia, association with|Potential protein deficiency|Mental retardation & microcephaly |Mental retardation|Learning difficulties, microcephaly and growth retardation|Intellectual disability and epilepsy	COSMIC,ICGC,
chr3	561413	561413	C	A	intergenic	CHL1,LINC01266	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	behavior/neurological phenotype,-	Tetralogy of Fallot|Schizophrenia, association with|Potential protein deficiency|Mental retardation & microcephaly |Mental retardation|Learning difficulties, microcephaly and growth retardation|Intellectual disability and epilepsy,-	ICGC,
chr3	181691831	181691831	A	G	ncRNA_intronic	LINC01206	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-	-	ICGC,
chr5	165958371	165958371	A	C	intergenic	LOC102546299,CTB-7E3.1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	21774056	21774056	A	T	intergenic	APOB,LOC645949	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Hypocholesterolaemia, association with|Hypocholesterolaemia|Hypobetalipoproteinemia-induced nonalcoholic steatohepatitis|Hypobetalipoproteinaemia.|Hypobetalipoproteinaemia|Hypertriglyceridaemia |Hypocholesterolaemia, steatosis and liver cancer|Increased apoB and cholesterol levels, association with|Increased cholesterol levels|Increased LDL cholesterol levels|Ischaemic stroke, association with |Oligoasthenoteratozoospermia, association with|Oxidised low-density lipoprotein levels, association with|Total cholesterol levels, association with|Hypercholesterolemia, association with|Hypercholesterolaemia, association with|Altered APOB levels |Altered binding affinity|Aortic stenosis, association with|Apolipoprotein B deficiency|Cerebrovascular disease events, association with|Coronary artery disease, association with|Coronary heart disease|Coronary heart disease, association with|Hypercholesterolaemia ?|Hypercholesterolaemia|Hepatitis C virus infection, association with|HDL cholesterol, association with |Diabetes, MODY|Decreased bone mineral density,-	ICGC,
chr3	23121365	23121365	C	T	intergenic	ZNF385D-AS2,UBE2E2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr10	132582258	132582258	G	T	intergenic	GLRX3,MIR378C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-UK|1|140|0.00714	-	-	mortality/aging,-	-,-	ICGC,
chr6	4228081	4228081	A	G	intergenic	LOC100507506,KU-MEL-3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr15	69460163	69460163	T	-	ncRNA_intronic	MIR548H4	unknown	deletion	-	-	-	0.0295	-	-	-	-	-	COSN18924512	-	-	-	-	-	-	COSMIC,COSMIC,COSMIC,
chr10	64147042	64147042	G	A	intronic	ZNF365	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Uric acid nephrolithiasis, association with|Crohn's disease, association with|Breast cancer, increased risk  	ICGC,
chr18	14560108	14560108	T	G	intergenic	POTEC,ANKRD30B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr5	17389052	17389052	T	C	intergenic	LOC401177,NONE	unknown	SNV	-	-	-	0.0725	rs80014283	-	0.0425319	-	0.029	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr4	29881882	29881882	C	T	intergenic	MIR4275,PCDH7	unknown	SNV	-	-	-	3.232e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	175735319	175735319	G	A	intergenic	NAALADL2,LINC01208	unknown	SNV	-	-	-	0.0001	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr9	21649076	21649076	-	T	intergenic	MIR31HG,MTAP	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,mortality/aging	-,Sensorineural hearing loss	ICGC,
chrX	27299597	27299597	C	A	intergenic	VENTXP1,SMEK3P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr14	87370260	87370260	C	A	intergenic	LOC101928767,LOC283585	unknown	SNV	-	-	-	0.0541	rs73315315	-	0.109625	-	0.123	-	-	LAML-KR|1|205|0.00488	-	-	-,-	-,-	ICGC,
chr5	61725453	61725455	GTA	-	intronic	IPO11	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr1	68814161	68814161	C	T	intergenic	WLS,RPE65	unknown	SNV	-	-	-	0.2863	rs6588322	-	0.299521	-	0.312	COSN6465493	-	ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488	-	-	integument phenotype,other phenotype	-,Retinitis pigmentosa|Retinitis pigmentosa / choroideremia|Retinitis pigmentosa, autosomal dominant ?|Retinitis pigmentosa, juvenile-onset|Retinitis pigmentosa?|RPE65 deficiency|Retinal dystrophy, severe, childhood onset|Retinal dystrophy, childhood onset|Retinal dystrophy, autosomal recessive|Retinal dystrophy |Leber congenital amaurosis.|Leber congenital amaurosis ?|Leber congenital amaurosis|Fundus albipunctatus|Cone-rod dystrophy, early-onset, severe	COSMIC,ICGC,
chr2	18499038	18499038	C	T	intergenic	KCNS3,NT5C1B-RDH14	unknown	SNV	-	-	-	3.231e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Airway hyperresponsiveness, association with ,-	ICGC,
chr21	47413929	47413929	G	T	intronic	COL6A1	unknown	SNV	-	-	-	0.7882	rs2850174	-	-	-	0.804	-	-	LUSC-KR|1|170|0.00588	-	-	cellular phenotype	Ullrich congenital muscular dystrophy, intermediate|Ullrich congenital muscular dystrophy|Myopathy  |Muscular dystrophy, limb girdle|Collagen VI myopathy|Collagen VI deficiency|Bethlem myopathy|Atrioventricular septal defect, Down-syndrome-associated|Atrioventricular septal defect, Down-syndrome associated|Atrioventricular septal defect in Down syndrome	ICGC,
chr16	55519653	55519653	G	C	exonic	MMP2	nonsynonymous	SNV	0.002	0.027	-	-	-	-	-	-	-	COSM5984226	-	-	-	-	mortality/aging	Winchester disease|Torg-Winchester syndrome|Torg syndrome|Reduced transcription|Plasma MMP-2 concentrations in migraine with aura|Osteolysis, idiopathic, Saudi type|Nasopharyngeal carcinoma, increased risk, association with|Intrauterine growth restriction risk, association with|Intracranial aneurysm, association with|Excess FEV1 decline, association with|Colorectal cancer, association with|Cardiovascular disease, in systemic lupus erythematosus, association with.	COSMIC,
chr6	80076443	80076443	T	-	intergenic	HMGN3-AS1,LCA5	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,vision/eye phenotype	-,Leber congenital amaurosis|Retinal dystrophy, early-onset|Retinitis pigmentosa	ICGC,
chr6	144060215	144060215	A	-	intronic	PHACTR2	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	-	ICGC,
chr3	30620876	30620876	G	A	intergenic	RBMS3,TGFBR2	unknown	SNV	-	-	-	0.0001	-	-	-	-	-	-	-	UTCA-FR|1|20|0.05000	-	-	-,mortality/aging	-,Loeys-Dietz syndrome|Loeys-Dietz syndrome, type II|Marfan syndrome II|Marfan syndrome, incomplete|Marfan-like syndrome|Microcephaly & developmental delay|Non-SGS marfanoid craniosynostosis|Potential protein deficiency|Shprintzen-Goldberg syndrome|Loeys-Dietz aortic aneurysm syndrome|Leprosy, association with|Iron overload disease, ferroportin-associated|Allergic disease, predisposition to|Aortic aneurysm |Aortic aneurysm, thoracic|Breast cancer, protection against, association with.|Cervical artery dissection, spontaneous|Colorectal cancer |Colorectal cancer, non-polyposis|Gastric cancer, reduced risk, association with|Giant cell carcinoma	ICGC,
chr9	120702282	120702282	C	T	intergenic	TLR4,BRINP1	unknown	SNV	-	-	-	3.254e-05	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	integument phenotype,-	Phenotypic variation in haemochromatosis, association with|Periodontitis, association with|Pancreatic necrotic infection, association with|Negative association with FMF|Nasopharyngeal cancer, increased risk, association with|Moraxella catarrhalis infection, increased risk, association with|Metabolic syndrome, association with|Meningococcal disease susceptibility|Meningococcal disease mortality|Lung function, association with|Lower left ventricular mass, in hypertensive women, association|Increased risk of cirrhosis in chronic hepatitis C ?|Increased liver and body fat, association with|Potential protein deficiency|Preterm birth and premature rupture of membranes, association with|Tuberculosis susceptibility, in HIV-infected patients, association|Serious infection, in HIV-1 patients, association with|Retinitis pigmentosa |Reduced LPS-induced IL-12 secretion, association with|Reduced expression|Pulmonary tuberculosis, susceptibility and severity, association|Pulmonary tuberculosis, severity, association with|Protection from urinary tract infection, association with|Protection against being overweight|Prostate cancer, increased risk|Prostate cancer risk, association with|Primary open-angle, normal-tension, and exfoliation glaucoma, association with.|Typhoid infection, increased risk, association with|Increased IL-4 secretion response to measles vaccination, association|Cutaneous leishmaniasis, association with|Crohn's disease, association with|Colorectal cancer, association with.|Colorectal cancer risk, association with|Cervical cancer, early stage, association with|Cancer, increased risk, association with|Bronchopulmonary Dysplasia, infant, association with|Breast cancer, association with.|Behcet disease, protection against, association with|Altered monocyte receptor levels|Acute pyelonephritis, reduced risk in adults, association with|Acute pyelonephritis, in children, association with|Diabetes, type 2, protection against, association with|Digestive system cancer, increased risk & prostate cancer, protection against, association with|Emphysema, association with|Increased expression|Helicobacter pylori-related gastric atrophy, association with|HBV recurrence after liver transplantation, association with|Guillain-Barré syndrome, association with|Guillain-Barré syndrome, AMAN sub-type, association with|Gastritis, association with|Gastric carcinoma, association with|Endometriosis, association with|Endotoxin hyporesponsiveness, association with|Extra-intestinal manifestations in Crohn's disease, association with.|Gastric adenocarcinoma, association with|Gastric cancer, association with,-	ICGC,
chr10	53637739	53637739	G	A	intronic	PRKG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Thoracic aortic aneurysms and dissections	ICGC,
chr1	217067969	217067969	G	A	intronic	ESRRG	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Breast cancer, association with 	ICGC,
chr12	128235574	128235574	T	G	intergenic	LOC101927637,FLJ37505	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr5	91554331	91554331	T	A	intergenic	ARRDC3-AS1,NR2F1-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr1	105228157	105228157	G	T	intergenic	LOC100129138,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24416987	-	UTCA-FR|1|20|0.05000	-	-	-,-	-,-	COSMIC,COSMIC,ICGC,
chr7	48571632	48571632	T	C	intronic	ABCA13	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LAML-KR|1|205|0.00488	-	-	-	Schizophrenia / depression|Schizophrenia / bipolar disorder / depression |Schizophrenia  |Bipolar disorder  |Autism|Anorectal malformation	ICGC,
chr9	32291752	32291752	C	T	intergenic	LINC01242,ACO1	unknown	SNV	-	-	-	3.229e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Schizophrenia	ICGC,
chr17	62168401	62168401	T	A	intronic	ERN1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24525146	-	GACA-CN|1|123|0.00813	-	-	integument phenotype	-	COSMIC,ICGC,
chr6	92827010	92827010	G	A	intergenic	CASC6,EPHA7	unknown	SNV	-	-	-	-	rs535668564	-	0.000998403	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-,nervous system phenotype	-,Development delay and dysmorphic features|Leukemia, risk, association with 	ICGC,
chr6	88560982	88560982	C	T	ncRNA_intronic	LOC101928911	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr20	59192778	59192778	C	T	intergenic	MIR4533,LOC100506470	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr6	24830916	24830916	C	-	intronic	FAM65B	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	GACA-JP|1|585|0.00171,PACA-AU|1|391|0.00256	-	-	-	-	ICGC,
chr2	185390656	185390656	C	T	intergenic	NUP35,ZNF804A	unknown	SNV	-	-	-	-	rs189599098	-	0.000199681	-	0.007	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Neurodevelopmental disease|Reduced cortical gray matter thickness|Schizophrenia and bipolar disorder, association with|Schizophrenia, association with  	ICGC,
chr6	28822053	28822053	G	T	intergenic	ZBED9,LOC401242	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr11	71838348	71838348	G	A	intergenic	ANAPC15,FOLR3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7018802	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	COSMIC,ICGC,
chr4	143402253	143402253	-	A	intronic	INPP4B	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN22788021	-	-	-	-	hematopoietic system phenotype	-	COSMIC,
chr13	42115063	42115063	A	G	intergenic	RGCC,VWA8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,Potential protein deficiency	ICGC,
chr18	48836126	48836126	C	T	intergenic	MEX3C,LOC100287225	unknown	SNV	-	-	-	0	-	-	-	-	-	-	-	PACA-AU|1|391|0.00256	-	-	mortality/aging,-	-,-	ICGC,
chr12	104858693	104858693	C	T	intronic	CHST11	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	-	ICGC,
chr18	54204648	54204648	G	A	intergenic	LOC100505474,TXNL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	130425967	130425967	A	C	intergenic	C4orf33,LOC101927282	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7732010	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	COSMIC,ICGC,
chr6	39683136	39683136	G	A	intronic	KIF6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	Schizophrenia|Response to statin therapy, association with|Myocardial infarction, increased myocardial damage, association|Increased vulnerability to LDL cholesterol, association with|Coronary heart disease, association with	ICGC,
chr1	198514995	198514995	G	A	intergenic	ATP6V1G3,PTPRC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,Variant CD45 expression|Multiple sclerosis|Immunodeficiency, severe combined|Hepatitis C, protection against, association with.|Defective splicing|Altered immune function	ICGC,
chr18	15040417	15040417	C	T	intergenic	LINC01443,LOC644669	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr1	64706329	64706329	T	G	intronic	UBE2U	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16520702	-	PACA-CA|1|268|0.00373	-	-	-	-	COSMIC,ICGC,
chr4	73649883	73649883	C	A	intergenic	ADAMTS3,COX18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-,-	Schizophrenia,-	ICGC,
chr11	2501541	2501541	G	A	intronic	KCNQ1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	QT interval prolongation|Noise-induced hearing loss, susceptibility to, association|Long QT syndrome.|Long QT syndrome, modifier of|Long QT syndrome & atrial fibrillation|Long QT syndrome|Jervell and Lange-Nielsen syndrome.|Reduced triglyceride levels, association with|Romano-Ward and incomplete Jervell Lange-Nielsen syndromes|Romano-Ward syndrome|Short QT syndrome|Short QT syndrome.|Sinus bradycardia, familial atrial fibrillation and long QT syndrome.|Stressful life events associated with arrhythmic events in LQTS p|Sudden infant death syndrome|Sudden unexplained death  |Jervell and Lange-Nielsen syndrome without sensorineural deafness|Jervell and Lange-Nielsen syndrome|Altered channel function|Atrial fibrillation|Atrial fibrillation and bradycardia|Atrial fibrillation and Long QT syndrome.|Atrial fibrillation, lone, early-onset|Atrial fibrillation, lone, early-onset.|Atrial fibrillation, susceptibility to |Atrial fibrillation.|Beckwith-Wiedemann syndrome|Increased risk of unexplained sudden death in patients administered psychotropic drug therapy|Hyperinsulinaemia and symptomatic hypoglycaemia, with long QT syndrome.|Diabetes, type 2, increased risk, association  |Deafness  |Cardiomyopathy, hypertrophic.|Cardiac defects|Beckwith-Wiedemann syndrome & long QT syndrome	ICGC,
chr7	135768955	135768955	G	A	intergenic	LUZP6,CHRM2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,integument phenotype	-,Reduced expression|Major depression in women, association with|Cardiomyopathy, dilated	ICGC,
chr6	124919076	124919076	A	G	intronic	NKAIN2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Developmental delay and recurrent infection|Various neurological abnormalities	ICGC,
chr21	10550534	10550534	C	A	intergenic	TEKT4P2,TPTE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Potential protein deficiency	ICGC,
chr4	156670685	156670685	C	A	intergenic	GUCY1A3,GUCY1B3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-UK|1|140|0.00714	-	-	mortality/aging,mortality/aging	Myocardial infarction, increased risk |Achalasia & moyamoya,-	ICGC,
chr11	39258648	39258648	C	T	intergenic	LOC101928536,LRRC4C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr18	63882103	63882103	C	T	intergenic	CDH7,CDH19	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Tetralogy of Fallot	ICGC,
chr9	77431650	77431650	C	A	exonic	TRPM6	nonsynonymous	SNV	0.042	0.944	0	-	-	-	-	-	-	-	PAAD|1|185|0.00541	-	-	-	mortality/aging	Hypomagnesaemia with secondary hypocalcaemia, mental retardation & short stature|Hypomagnesaemia with secondary hypocalcaemia	TCGA,
chr5	63648829	63648829	C	T	intronic	RNF180	unknown	SNV	-	-	-	-	rs375074271	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr8	120108401	120108401	A	G	intronic	COLEC10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr21	31116089	31116089	G	A	intronic	GRIK1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Lung cancer, susceptibility to, association with|Juvenile absence epilepsy, association with 	ICGC,
chr2	171625892	171625892	-	A	ncRNA_intronic	LOC101926913	unknown	insertion	-	-	-	0.0305	rs368367911	-	0.0373403	-	0.007	-	-	PEME-CA|1|112|0.00893	-	-	-	-	ICGC,
chr11	30695484	30695484	A	T	intergenic	MPPED2,DCDC5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,Dyslexia |Schizophrenia  	ICGC,
chr4	176027559	176027559	G	C	intergenic	ADAM29,GPM6A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	CMDI-UK|1|136|0.00735	-	-	-,reproductive system phenotype	-,Claustrophobia, association with	ICGC,
chr7	86929165	86929165	C	T	intergenic	TMEM243,TP53TG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chrX	94126239	94126239	G	A	intergenic	FAM133A,LOC643486	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	121208107	121208107	T	C	intergenic	MAD2L1,PRDM5	unknown	SNV	-	-	-	0.6450	rs2662743	-	0.688698	-	0.667	-	-	ESAD-UK|1|301|0.00332,SKCA-BR|1|100|0.01000	-	-	mortality/aging,skeleton phenotype	Lung cancer, association with|Reduced expression,Brittle cornea syndrome	ICGC,
chr2	82382804	82382804	A	C	intergenic	LOC100507201,LOC1720	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr19	41462082	41462082	T	G	intergenic	CYP2B7P,CYP2B6	unknown	SNV	-	-	-	3.228e-05	-	-	-	-	-	COSN14838973	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,CYP2B6 expression|Decreased expression|Impaired efavirenz metabolism|Potential protein deficiency|Reduced expression|Complete loss of function|Altered enzyme activity|Acute myeloid leukaemia, increased risk|Almost complete loss of function|Altered (S)-methadone metabolism|Altered CYP2B6 expression|Altered efavirenz and nevirapine metabolism	COSMIC,ICGC,
chr2	68477830	68477830	G	A	intronic	PPP3R1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27472203	-	BTCA-SG|1|71|0.01408	-	-	mortality/aging	-	COSMIC,ICGC,
chr2	151267046	151267046	G	T	intergenic	LOC101929231,RND3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,mortality/aging	-,-	ICGC,
chr4	27550563	27550563	T	G	intergenic	STIM2,MIR4275	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN4833931	-	MALY-DE|1|241|0.00415	-	-	integument phenotype,-	-,-	COSMIC,ICGC,
chr10	119960012	119960012	C	T	ncRNA_intronic	CASC2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr3	141917682	141917682	A	T	exonic	GK5	nonsynonymous	SNV	0.751	0.002	-	-	-	-	-	-	-	COSM4872515	UCEC|1|248|0.00403	UCEC-US|1|250|0.00400	-	-	-	-	COSMIC,COSMIC,TCGA,ICGC,
chr8	63218232	63218232	T	C	intronic	NKAIN3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-	Dravet syndrome   	ICGC,
chr2	5241069	5241069	C	T	intergenic	LINC01249,LINC01248	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr19	42696405	42696405	G	A	intergenic	LOC100505622,DEDD2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25976622	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chrX	16794584	16794584	-	AC	intergenic	SYAP1,TXLNG	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	normal phenotype,normal phenotype	-,-	ICGC,
chr6	128375452	128375452	T	C	intronic	PTPRK	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6302834	-	LIRI-JP|1|258|0.00388	-	-	-	Autism	COSMIC,ICGC,
chr1	228464538	228464538	G	T	intronic	OBSCN	unknown	SNV	-	-	-	-	rs554271780	-	0.000199681	-	-	COSN21594015	-	BRCA-EU|1|569|0.00176	-	-	muscle phenotype	Schizophrenia|Potential protein deficiency|Glioblastoma|Cardiomyopathy, hypertrophic	COSMIC,ICGC,
chr18	47249593	47249593	G	C	intergenic	LIPG,ACAA2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	cardiovascular system phenotype,-	Reduced lipase activity|Low HDL cholesterol|Increased total cholesterol & LDL-C in Hispanics, association with ?|Hypertriglyceridaemia ?|Hypercholesterolaemia ?|Hypercholesterolaemia|Higher plasma HDL cholesterol, in African Americans, association with|Higher plasma HDL cholesterol, association with|Acute myocardial infarction, association with|CAD protection|Decreased promoter activity|Diabetic retinopathy, association with|HDL cholesterol levels, association with |Higher plasma HDL cholesterol  ,-	ICGC,
chr1	11487976	11487976	C	T	intergenic	UBIAD1,PTCHD2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Central discoid corneal dystrophy|Schnyder crystalline corneal dystrophy,-	ICGC,
chr11	86780903	86780903	T	A	intronic	TMEM135	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Intellectual disability  	ICGC,
chr17	54287031	54287031	T	-	intronic	ANKFN1	unknown	deletion	-	-	-	0.0002	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr13	55801857	55801857	G	A	intergenic	MIR5007,PRR20A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr13	114932982	114932982	A	C	intergenic	RASA3,CDC16	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	-,-	ICGC,
chr20	41293205	41293205	T	A	intronic	PTPRT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	homeostasis/metabolism phenotype	Intellectual disability, behavioural problems, microcephaly & cardiac defect|Attention deficit hyperactivity disorder 	ICGC,
chr13	90724024	90724024	T	G	ncRNA_intronic	LINC00559	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chrX	103250461	103250461	A	G	ncRNA_intronic	MIR1256	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-	-	ICGC,
chr1	167095706	167095706	C	G	exonic	DUSP27	nonsynonymous	SNV	0.535	0.004	4.633e-06	-	-	-	-	-	-	COSM6059228	LUAD|1|543|0.00184	-	-	-	-	-	COSMIC,TCGA,
chr8	58395982	58395982	A	G	intergenic	LINC00588,FAM110B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr8	135387262	135387262	A	G	intergenic	ST3GAL1,ZFAT	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17808373	-	ESAD-UK|1|301|0.00332	-	-	hematopoietic system phenotype,mortality/aging	-,Autoimmune thyroid disease, association with	COSMIC,ICGC,
chr1	176107900	176107900	A	C	intronic	RFWD2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Autism spectrum disorder  	ICGC,
chr8	32114918	32114918	C	T	intronic	NRG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Sudden cardiac death, association with|Schizophrenia, association with  |Schizophrenia in African Americans, association with|Prepulse inhibition, association with|Perceptual aberration of schizotypal personality, association with|Increased lateral ventricle volume in schizophrenia|Hirschsprung disease|Developmental delay, hypotonia & microcephaly|Alzheimers disease, association with	ICGC,
chr15	87104400	87104400	T	G	intronic	AGBL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	Fuchs corneal dystrophy, late-onset 	ICGC,
chr12	22722118	22722118	A	T	intergenic	C2CD5,ETNK1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	-,-	ICGC,
chr12	126624019	126624019	C	A	intergenic	LOC101927464,LOC100128554	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	ICGC,
chr11	130066721	130066721	C	T	intronic	ST14	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Ichthyosis, autosomal recessive with hypotrichosis|Ichthyosis, follicular atrophoderma & hypotrichosis	ICGC,
chr4	10597457	10597457	C	T	intronic	CLNK	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype	Immunodeficiency, common variable, association with	ICGC,
chr9	79191263	79191263	G	C	intergenic	GCNT1,PRUNE2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	hematopoietic system phenotype,-	-,Schizophrenia	ICGC,
chr18	35743282	35743282	C	T	intergenic	MIR4318,LINC00669	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr9	30964284	30964284	G	A	intergenic	LINC01242,ACO1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22407388	-	BRCA-EU|1|569|0.00176	-	-	-,mortality/aging	-,Schizophrenia	COSMIC,ICGC,
chr16	3774905	3774905	G	A	downstream	CREBBP	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Rubinstein-Taybi syndrome|Ovarian cancer|Mental retardation & multiple congenital anomalies|Mental retardation & congenital heart defect|Intellectual disability, multiple congenital anomalies, musculoskeletal anomalies & craniofacial dysmorphisms|Intellectual disability, facial dysmorphism & anomalies of the extremities|Autism spectrum disorder 	ICGC,
chr16	83704426	83704426	G	C	exonic	CDH13	nonsynonymous	SNV	0.103	0.973	-	-	-	-	-	-	-	COSM6037892	-	-	-	-	mortality/aging	Higher adiponectin levels|Amyotrophic lateral sclerosis 	COSMIC,COSMIC,
chr1	202179852	202179852	G	A	intronic	LGR6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	normal phenotype	-	ICGC,
chr1	176141104	176141104	G	T	intronic	RFWD2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	integument phenotype	Autism spectrum disorder  	ICGC,
chr2	191733639	191733639	G	A	intergenic	NAB1,GLS	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,mortality/aging	-,Hepatic encephalopathy, in cirrhosis, association with|Schizophrenia  	ICGC,
chr6	64102039	64102039	C	G	intergenic	LGSN,PTP4A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	ICGC,
chr10	127697440	127697440	T	C	intronic	FANK1	unknown	SNV	-	-	-	0.6549	rs3817306	-	0.633786	-	0.696	-	-	LUSC-KR|1|170|0.00588	-	-	-	-	ICGC,
chr9	132394199	132394199	G	T	intronic	NTMT1	unknown	SNV	-	-	-	0.2008	rs13440406	-	0.182109	-	0.333	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr3	21745180	21745180	C	T	intronic	ZNF385D	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr12	33742010	33742010	G	A	intergenic	SYT10,ALG10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	behavior/neurological phenotype,-	-,-	ICGC,
chr7	39294028	39294028	A	T	intronic	POU6F2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	normal phenotype	Wilms tumour 	ICGC,
chr3	7487897	7487897	G	A	intronic	GRM7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging	Schizophrenia, association with  |Autism |Attention deficit hyperactivity disorder	ICGC,
chr1	219502530	219502530	G	C	intergenic	LYPLAL1,RNU5F-1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24064635	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	-,-	Cirrhosis, nonalcoholic steatohepatitis-related,-	COSMIC,COSMIC,ICGC,
chr9	19919996	19919996	G	A	intergenic	SLC24A2,MLLT3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	vision/eye phenotype,mortality/aging	Retinal disease,Neuromotor dev. delay, cerebellar ataxia, epilepsy	ICGC,
chr18	14651347	14651347	G	A	intergenic	POTEC,ANKRD30B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr3	86012130	86012130	G	T	intronic	CADM2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-	-	ICGC,
chr3	820522	820522	C	A	ncRNA_intronic	LINC01266	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	-	ICGC,
chr9	121780572	121780572	A	C	intergenic	TLR4,BRINP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,-	Phenotypic variation in haemochromatosis, association with|Periodontitis, association with|Pancreatic necrotic infection, association with|Negative association with FMF|Nasopharyngeal cancer, increased risk, association with|Moraxella catarrhalis infection, increased risk, association with|Metabolic syndrome, association with|Meningococcal disease susceptibility|Meningococcal disease mortality|Lung function, association with|Lower left ventricular mass, in hypertensive women, association|Increased risk of cirrhosis in chronic hepatitis C ?|Increased liver and body fat, association with|Potential protein deficiency|Preterm birth and premature rupture of membranes, association with|Tuberculosis susceptibility, in HIV-infected patients, association|Serious infection, in HIV-1 patients, association with|Retinitis pigmentosa |Reduced LPS-induced IL-12 secretion, association with|Reduced expression|Pulmonary tuberculosis, susceptibility and severity, association|Pulmonary tuberculosis, severity, association with|Protection from urinary tract infection, association with|Protection against being overweight|Prostate cancer, increased risk|Prostate cancer risk, association with|Primary open-angle, normal-tension, and exfoliation glaucoma, association with.|Typhoid infection, increased risk, association with|Increased IL-4 secretion response to measles vaccination, association|Cutaneous leishmaniasis, association with|Crohn's disease, association with|Colorectal cancer, association with.|Colorectal cancer risk, association with|Cervical cancer, early stage, association with|Cancer, increased risk, association with|Bronchopulmonary Dysplasia, infant, association with|Breast cancer, association with.|Behcet disease, protection against, association with|Altered monocyte receptor levels|Acute pyelonephritis, reduced risk in adults, association with|Acute pyelonephritis, in children, association with|Diabetes, type 2, protection against, association with|Digestive system cancer, increased risk & prostate cancer, protection against, association with|Emphysema, association with|Increased expression|Helicobacter pylori-related gastric atrophy, association with|HBV recurrence after liver transplantation, association with|Guillain-Barré syndrome, association with|Guillain-Barré syndrome, AMAN sub-type, association with|Gastritis, association with|Gastric carcinoma, association with|Endometriosis, association with|Endotoxin hyporesponsiveness, association with|Extra-intestinal manifestations in Crohn's disease, association with.|Gastric adenocarcinoma, association with|Gastric cancer, association with,-	ICGC,
chr8	31482894	31482894	C	T	intergenic	WRN,NRG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype,integument phenotype	Werner syndrome|Thromboembolic disease, association with|Schizophrenia|Sarcomas, association with|Reduced enzyme activity|Partial lipodystrophy with insulin resistance & adult progeria Werner syndrome|Non-hodgkin lymphoma, association with|Lung cancer|Coronary stenosis, reduced risk, association with|Breast cancer, association with|Breast cancer risk in radiographers, association with,Sudden cardiac death, association with|Schizophrenia, association with  |Schizophrenia in African Americans, association with|Prepulse inhibition, association with|Perceptual aberration of schizotypal personality, association with|Increased lateral ventricle volume in schizophrenia|Hirschsprung disease|Developmental delay, hypotonia & microcephaly|Alzheimers disease, association with	ICGC,
chr16	70513117	70513117	G	A	exonic	FUK	synonymous	SNV	-	-	0.0005	0.0004	rs201537001	0.0006	-	0.0010	-	-	COADREAD|1|489|0.00204,READ|1|122|0.00820	-	-	-	-	-	TCGA,
chrX	5272079	5272079	C	A	intergenic	LOC101928201,NLGN4X	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22483352	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,Potential protein deficiency|Mental retardation|Kallmann syndrome and ichthyosis|Intellectual disability, short stature & hydrocephaly|Intellectual disability, Kallmann syndrome & ichthyosis|Intellectual disability, behavioural difficulties, ichthyosis & hypogonadotrophic hypogonadism|Intellectual disability, autism spectrum disorder & short stature|Developmental delay, hypospadias & ichthyosis|Developmental delay, autism spectrum disorder, micropenis & ichthyosis|Developmental delay  |Autism, association with|Autism and mental retardation|Autism 	COSMIC,ICGC,
chr1	147201762	147201762	C	T	intergenic	ACP6,GJA5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8891372	-	OV-AU|1|93|0.01075	-	-	-,mortality/aging	Anorectal malformation,Univentricular heart |Transposition of the great arteries|Tetralogy of Fallot / pulmonary atresia|Tetralogy of Fallot|Pulmonary atresia|Heart block type 1|Atrial standstill, association with|Atrial septal defect / mitral valve dysplasia with ventricular septal defect|Atrial fibrillation, association with|Atrial fibrillation	COSMIC,ICGC,
chr7	6010103	6010103	-	CACT	intronic	RSPH10B,RSPH10B2	unknown	insertion	-	-	-	0.0019	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr19	3730128	3730128	C	T	exonic	TJP3	synonymous	SNV	-	-	4.469e-05	-	rs764779827	2.474e-05	-	-	-	-	-	GACA-JP|1|585|0.00171	-	-	-	-	ICGC,
chr13	82504665	82504665	G	A	intergenic	SPRY2,SLITRK1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,mortality/aging	Cleft lip ,Trichotillomania|Tourette syndrome|Obsessive-compulsive disorder |Attention deficit hyperactivity disorder 	ICGC,
chr15	28008094	28008094	C	T	intronic	OCA2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Skin pigmentation, association with|Pigmentary dysplasia, mental retardation, epilepsy & dysmorphic features|Oculocutaneous albinism|Mild to subclinical phenotype|Malignant melanoma, increased risk, association with|Darker eye colour, association with|Blue eye colour, association with|Basal cell carcinoma, association with.|Albinism, oculocutaneous II|Albinism, oculocutaneous|Albinism, ocular	ICGC,
chr18	6303237	6303237	G	A	intronic	L3MBTL4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22720589	-	BRCA-UK|1|141|0.00709,BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr11	22094821	22094821	-	AT	intergenic	NELL1,ANO5	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|2|100|0.02000	-	-	mortality/aging,-	Crohn disease, association with,Persistent asymptomatic hyperCKemia|Myopathy of posterior calf muscles, late-onset|Myopathy / muscular dystrophy|Myopathy  |Muscular dystrophy, limb girdle 2L.|Muscular dystrophy, limb girdle 2L|Muscular dystrophy  |Miyoshi-like distal myopathy|Miyoshi myopathy, non-dysferlin|Miyoshi distal myopathy.|Miyoshi distal myopathy|Gnathodiaphyseal dysplasia|Autism 	ICGC,
chr1	68852632	68852632	C	T	intergenic	WLS,RPE65	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	integument phenotype,other phenotype	-,Retinitis pigmentosa|Retinitis pigmentosa / choroideremia|Retinitis pigmentosa, autosomal dominant ?|Retinitis pigmentosa, juvenile-onset|Retinitis pigmentosa?|RPE65 deficiency|Retinal dystrophy, severe, childhood onset|Retinal dystrophy, childhood onset|Retinal dystrophy, autosomal recessive|Retinal dystrophy |Leber congenital amaurosis.|Leber congenital amaurosis ?|Leber congenital amaurosis|Fundus albipunctatus|Cone-rod dystrophy, early-onset, severe	ICGC,
chr8	86162972	86162972	C	T	exonic	CA13	nonsynonymous	SNV	0.0	1.0	-	-	-	-	-	-	-	COSM3996149	KIPAN|1|799|0.00125,KIRP|1|282|0.00355	KIRP-US|1|165|0.00606	-	-	-	-	COSMIC,TCGA,ICGC,
chr5	167246372	167246372	G	T	intronic	TENM2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8208225	-	PACA-CA|1|268|0.00373	-	-	-	-	COSMIC,ICGC,
chr4	103852929	103852929	A	C	intronic	SLC9B1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr1	38930671	38930671	-	A	intergenic	LINC01343,RRAGC	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	NKTL-SG|1|50|0.02000	-	-	-,-	-,-	ICGC,
chr2	146166189	146166189	G	A	intergenic	TEX41,PABPC1P2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr19	7448615	7448615	G	A	intergenic	INSR,ARHGEF18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,mortality/aging	Insulin resistance A|Leprechaunism|Obesity & learning disability|Polycystic ovary syndrome, in lean women, association with|Potential protein deficiency|Rabson-Mendenhall syndrome|Rabson-Mendenhall syndrome.|Reduced diastolic blood pressure, association with|Insulin resistance|Fibre-type disproportion myopathy, congenital|Acanthosis nigricans|Acanthosis nigricans, insulin related|Colorectal cancer, increased risk, association with |Diabetes mellitus, type 2, association with|Diabetes, NIDDM|Diabetes, type 2, association with|Diabetes, type 2, protection against|Donohue syndrome.,-	ICGC,
chr20	37778428	37778428	G	A	intergenic	DHX35,LOC339568	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr19	5711936	5711936	G	C	exonic	LONP1	stopgain	SNV	-	-	-	-	-	-	-	-	-	-	LUAD|1|543|0.00184	-	-	-	-	-	TCGA,
chr10	132625717	132625717	C	T	intergenic	GLRX3,MIR378C	unknown	SNV	-	-	-	0.0002	rs534750313	-	0.000399361	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging,-	-,-	ICGC,
chr18	52512655	52512655	-	GAAAT	intronic	RAB27B	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	integument phenotype	-	ICGC,
chr19	40405997	40405997	T	C	exonic	FCGBP	nonsynonymous	SNV	-	-	0.0905	0.1659	rs7249743	0.0908	0.13119	0.0443	-	COSM1750891	STAD|1|395|0.00253,STES|1|395|0.00253	SKCA-BR|1|100|0.01000,BLCA-CN|2|103|0.01942	-	-	-	Potential protein deficiency	COSMIC,TCGA,ICGC,
chr14	101347454	101347454	G	A	exonic	RTL1	synonymous	SNV	-	-	5.306e-05	6.471e-05	rs369638364	8.426e-05	-	-	-	COSM949324	UCEC|1|248|0.00403	UCEC-US|1|250|0.00400	-	-	mortality/aging	-	COSMIC,TCGA,ICGC,
chr5	42046101	42046101	A	C	intergenic	FBXO4,LOC101926960	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	-,-	ICGC,
chr2	228541857	228541857	G	A	intergenic	C2orf83,SLC19A3	unknown	SNV	-	-	-	3.23e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Wernicke's-like encephalopathy|Thiamine transporter-2 deficiency.|Leigh syndrome, early-childhood fatal|Epileptic spasms, psychomotor retardation & brain MRI findings|Encephalopathy, early-infantile, lethal|Basal ganglia disease, biotin-responsive|Alcohol dependence, susceptibility to	ICGC,
chr12	81377237	81377237	G	C	intergenic	LIN7A,ACSS3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9478628	-	OV-AU|1|93|0.01075	-	-	mortality/aging,-	Intellectual disability in 12q21 deletion syndrome,-	COSMIC,ICGC,
chr8	138269855	138269855	T	A	intergenic	KHDRBS3,FAM135B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr12	57751650	57751650	C	T	intergenic	R3HDM2,INHBC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,reproductive system phenotype	-,-	ICGC,
chr4	61288041	61288041	C	A	intergenic	NONE,LPHN3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6837517	-	LIRI-JP|1|258|0.00388	-	-	-,behavior/neurological phenotype	-,-	COSMIC,ICGC,
chr5	5248501	5248501	C	A	intronic	ADAMTS16	unknown	SNV	-	-	-	0.0549	rs16875141	-	0.0788738	-	0.014	-	-	LAML-KR|1|205|0.00488	-	-	-	Increased systolic blood pressure, association with	ICGC,
chr19	53895226	53895226	A	C	intergenic	ZNF525,ZNF765	unknown	SNV	-	-	-	0.4560	rs7507359	-	0.407548	-	0.348	-	-	LAML-KR|1|205|0.00488	-	-	-,-	-,-	ICGC,
chr14	56124445	56124445	C	T	intronic	KTN1	unknown	SNV	-	-	-	3.235e-05	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	no phenotypic analysis	-	ICGC,
chr3	85815147	85815147	T	C	intronic	CADM2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr10	14502413	14502413	G	A	intergenic	MIR1265,FAM107B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,skeleton phenotype	-,-	ICGC,
chr10	109817641	109817641	G	A	intergenic	SORCS1,RNU6-53P	unknown	SNV	-	-	-	0.0002	rs554687877	-	0.000199681	-	-	COSN15242100	-	ESAD-UK|1|301|0.00332	-	-	other phenotype,-	Autism ,-	COSMIC,ICGC,
chr3	115742027	115742027	A	C	intronic	LSAMP	unknown	SNV	-	-	-	0.0168	rs74727074	-	0.0109824	-	-	COSN25344524	-	OV-AU|1|93|0.01075,MALY-DE|1|241|0.00415	-	-	behavior/neurological phenotype	-	COSMIC,COSMIC,ICGC,
chr13	43102415	43102415	C	T	intergenic	AKAP11,TNFSF11	unknown	SNV	-	-	-	3.243e-05	-	-	-	-	-	COSN24714674	-	GACA-CN|1|123|0.00813	-	-	-,integument phenotype	-,Tetralogy of Fallot|Rheumatoid arthritis, earlier onset, association with|Phenotype modifier, association with |Osteopetrosis, autosomal recessive|Lumbar spine bone mineral density, association with|Bone mineral density in osteoporosis, association with 	COSMIC,ICGC,
chr2	231062837	231062837	A	G	intronic	SP110	unknown	SNV	-	-	-	7.742e-05	rs200707626	-	-	-	-	COSN25162557	-	MALY-DE|1|241|0.00415	-	-	-	Tuberculosis, susceptibility to, association with|Tuberculosis, reduced susceptibility, association with|Pulmonary tuberculosis, association with|Hepatic veno-occlusive disease with immunodeficiency	COSMIC,ICGC,
chr6	27841231	27841231	G	A	exonic	HIST1H4L	nonsynonymous	SNV	-	-	-	-	-	-	-	-	-	COSM1076984	UCEC|1|248|0.00403	UCEC-US|1|250|0.00400	-	-	-	-	COSMIC,TCGA,ICGC,
chr4	1388457	1388457	C	T	exonic	CRIPAK	nonsynonymous	SNV	0.285	0.914	-	-	-	-	-	-	-	COSM5092248	-	-	-	-	-	Potential protein deficiency	COSMIC,
chr9	129926238	129926238	C	T	intronic	RALGPS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr3	152260502	152260502	A	-	intergenic	MBNL1,P2RY1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312,LIRI-JP|1|258|0.00388	-	-	vision/eye phenotype,hematopoietic system phenotype	Myotonic dystrophy, type 1, association with|Myotonic dystrophy, type 1, modifier of,-	ICGC,
chr11	86844404	86844404	C	G	intronic	TMEM135	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5922430	-	LIRI-JP|1|258|0.00388	-	-	-	Intellectual disability  	COSMIC,ICGC,
chr16	8483322	8483322	G	T	intergenic	RBFOX1,TMEM114	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Muscular and feet abnormalities|Mental retardation|Epilepsy, rolandic  |Epilepsy|Developmental delay, facial dysmorphism  |Developmental delay and transposition of the great arteries|Developmental delay and diplegia|Developmental delay and craniosynostosis|Developmental delay  |Cardiac defects|Cardiac abnormalities, micrognathia and scoliosis|Autism spectrum disorder|Autism|Attention deficit hyperactivity disorder ,Developmental delay|Cataract, congenital	ICGC,
chr3	178231049	178231049	-	C	intergenic	LINC01014,KCNMB2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr3	102630862	102630862	A	G	intergenic	ZPLD1,MIR548A3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-,-	Cerebral cavernous malformations,-	ICGC,
chr18	34184859	34184859	T	C	intronic	FHOD3	unknown	SNV	-	-	-	0.3893	rs2047273	-	0.398363	-	0.406	-	-	ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488	-	-	mortality/aging	Cardiomyopathy, dilated|Cardiomyopathy, hypertrophic, association with	ICGC,
chr8	135316460	135316460	G	A	intergenic	ST3GAL1,ZFAT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332,MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype,mortality/aging	-,Autoimmune thyroid disease, association with	ICGC,
chr2	204016238	204016238	G	T	exonic	NBEAL1	nonsynonymous	SNV	0.002	0.947	4.093e-06	-	rs372102920	8.312e-06	-	-	-	-	ESCA|1|185|0.00541	-	-	-	-	Potential protein deficiency	TCGA,
chr18	37895339	37895339	C	T	intergenic	LOC101927900,KC6	unknown	SNV	-	-	-	3.235e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr6	33411088	33411088	A	C	exonic	SYNGAP1	nonsynonymous	SNV	0.007	0.989	-	-	-	-	-	-	-	-	PRAD|1|499|0.00200	-	-	-	mortality/aging	Schizophrenia  |Mental retardation, non-syndromic|Mental retardation & multiple congenital anomalies|Mental retardation  |Intellectual disability, seizures & speech impairment|Intellectual disability, nonsyndromic|Intellectual disability & epilepsy with myoclonic absences|Intellectual disability  |Autism spectrum disorder  	TCGA,
chrX	50792032	50792032	G	T	intergenic	BMP15,LINC01284	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	reproductive system phenotype,-	Premature ovarian failure & amenorrhoea|Premature ovarian failure|Polycystic ovary syndrome ,-	ICGC,
chr4	63526968	63526968	T	C	intergenic	LPHN3-AS1,TECRL	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19096330	-	CLLE-ES|1|510|0.00196	-	-	-,-	-,-	COSMIC,ICGC,
chr5	104867086	104867086	G	A	intergenic	RAB9BP1,LOC102467213	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,-	-,-	ICGC,
chr2	52226044	52226044	T	G	intergenic	NRXN1,ASB3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	Hypotonia|Hypotonia & encephalopathy|Increased white matter volume, association with|Intellectual disability  |Intellectual disability & attention deficit hyperactivity disorder|Intellectual disability & hearing loss|Intellectual disability & pervasive developmental disorder|Intellectual disability and autism|Intellectual disability, nonsyndromic |Intellectual disability, seizures, dysmorphisms & language delay|Growth retardation  |Epilepsy, myoclonic seizures & speech delay|Developmental disorder|Developmental disorder & attention deficit hyperactivity disorder|Developmental disorder, seizures & attention deficit hyperactivity disorder|Developmental/intellectual disability, hypotonia & dysmorphic features|Disorder of muscle, ligament & fascia|Encephalopathy  |Epilepsy  |Epilepsy with cognitive impairment / autism spectrum disorder|Epilepsy with focal seizures|Epilepsy, generalised |Intellectual disability, seizures, language delay & hypotonia|Language delay|Learning difficulties|Respiratory distress & sepsis|Respiratory distress syndrome|Schizophrenia |Schizophrenia, childhood onset |Schizophrenia, disorganised type|Seizures, generalized tonic-clonic & attention deficit hyperactivity disorder|Sensory integration disorder & attention deficit hyperactivity disorder|Speech delay & social communication difficulties|Tourette syndrome|Pervasive developmental disorder / hypotonia|Pervasive developmental disorder|Pervasive developmental delay / mental retardation, lack of coordination & hearing loss|Learning difficulties, ADHD & autism|Mental retardation|Mental retardation, autism, vertebral malformations|Mental retardation, Pitt-Hopkins-like|Microcephaly & mental retardation|Multiple congenital anomalies  |Multiple disabilities|Myoclonic epilepsy   |Neurodevelopmental disorder  |Vertebral anomalies|Developmental delay, speech delay & social communication difficulties|Attention deficit hyperactivity disorder |Autism spectrum disorder, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability & language delay|Autism spectrum disorder, intellectual disability, dysmorphisms, developmental delay & language delay|Autism spectrum disorder, intellectual disability, seizures & developmental delay|Autism spectrum disorder, intellectual disability, seizures, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability, seizures, dysmorphisms & language delay|Autism spectrum disorder, seizures, developmental delay & language delay|Autism, intellectual disability & attention deficit hyperactivity disorder|Autistic disorder|Autism spectrum disorder with developmental & speech delay|Autism spectrum disorder & seizures|Autism spectrum disorder & language delay|Autism |Autism & learning difficulties|Autism & mental retardation|Autism & seizures|Autism spectrum disorder|Autism spectrum disorder & attention deficit hyperactivity disorder|Autism spectrum disorder & developmental delay|Autism spectrum disorder & dysmorphic features|Autism spectrum disorder & intellectual disability|Behavioural problems|Congenital heart defect  |Craniofacial dysmorphism|Developmental delay & speech/motor delay|Developmental delay with early-onset epilepsy|Developmental delay, dysmorphic features & short stature|Developmental delay, epilepsy, autism|Developmental delay, language delay & hypotonia|Developmental delay, learning difficulties, ADHD|Developmental delay, microcephaly & behavioural problems|Developmental delay, pulmonic stenosis & autism spectrum disorder|Developmental delay, short stature and diaphragmatic hernia|Developmental delay, speech delay & microcephaly|Developmental delay & seizures|Developmental delay & seizure disorder|Cystic hygroma, hydrops & micrognathia|Cystic hygroma, shortened upper limbs & fetal demise|Developmental & speech delay|Developmental delay|Developmental delay / autism|Developmental delay & autism|Developmental delay & dysmorphic features|Developmental delay & epilepsy|Developmental delay & hypotonia|Developmental delay & multiple congenital anomalies,-	ICGC,
chr12	43024296	43024296	C	A	ncRNA_intronic	LOC101927058	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5716329	-	LINC-JP|1|394|0.00254	-	-	-	-	COSMIC,ICGC,
chr8	83139645	83139645	G	A	intergenic	SNX16,LINC01419	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	106970868	106970868	G	A	ncRNA_intronic	LINC00883	unknown	SNV	-	-	-	0.0001	-	-	-	-	-	COSN4809771	-	MALY-DE|1|241|0.00415	-	-	-	-	COSMIC,ICGC,
chr7	153812458	153812458	G	C	intronic	DPP6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	nervous system phenotype	Autism spectrum disorder  |Schizophrenia  |Ventricular fibrillation, idiopathic 	ICGC,
chr4	19529155	19529155	G	A	intergenic	LCORL,SLIT2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Schizophrenia  	ICGC,
chr19	10502370	10502370	G	A	exonic	CDC37	nonsynonymous	SNV	0.146	0.066	-	-	-	-	-	-	-	COSM1741712	-	-	-	-	-	-	COSMIC,
chr4	189543491	189543491	G	A	intergenic	LINC01060,LINC01262	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr9	105097271	105097271	T	G	intergenic	GRIN3A,LINC00587	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	vision/eye phenotype,-	Schizophrenia, increased risk |Schizophrenia |Potential protein deficiency,-	ICGC,
chr20	25424654	25424654	-	CTATCTATTTAT	intronic	GINS1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	mortality/aging	-	ICGC,
chr21	36486059	36486059	C	T	intergenic	RUNX1,LOC100506403	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Platelet disorder, familial|Platelet disorder, familial & myeloid leukaemia|Platelet disorder, familial with associated myeloid malignancy|Rheumatoid arthritis, susceptibility, association|Thrombocytopaenia |Thrombocytopaenia and acute myeloid leukaemia|Thrombocytopaenia, association with|Thrombocytopaenia, non-syndromic with myelodysplasia|Platelet dense granule secretion defect, excessive bleeding|Myelodysplastic/myeloproliferative disease|Mental retardation, syndromic, with thrombocytopaenia|Acute myeloid leukaemia |Acute myeloid leukaemia, myelodysplastic syndrome-related|Delta-storage-pool platelet disease|Developmental delay, congenital anomalies & thrombocytopenia|Growth retardation & thrombocytopaenia|Leukaemia, chronic myelomonocytic|Lymphoblastic leukaemia, T-cell acute|Mental retardation, short stature & thrombocytopaenia,-	ICGC,
chr10	2234242	2234242	G	A	intergenic	MIR6072,LINC00701	unknown	SNV	-	-	-	0.0464	rs34212431	-	0.047524	-	0.080	COSN25825107	-	EOPC-DE|1|202|0.00495	-	-	-,-	-,-	COSMIC,ICGC,
chr6	13339975	13339975	G	A	intergenic	TBC1D7,GFOD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Intellectual disability & megalencephaly|Intellectual disability, macrocrania, patellar dislocation and coeliac disease,Schizophrenia	ICGC,
chr3	125544411	125544411	G	A	intergenic	MIR548I1,FAM86JP	unknown	SNV	-	-	-	0.0003	rs200026726	-	-	-	-	COSN7620303	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	COSMIC,ICGC,
chr1	79725909	79725909	C	T	intergenic	ELTD1,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	normal phenotype,-	-,-	ICGC,
chr22	30184788	30184788	G	A	UTR3	ASCC2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chrX	62636886	62636886	-	T	intergenic	SPIN4,LINC01278	unknown	insertion	-	-	-	0.0001	-	-	-	-	-	COSN20226906	-	-	-	-	-,-	-,-	COSMIC,
chr20	32734920	32734920	C	T	intergenic	EIF2S2,ASIP	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,integument phenotype	-,Basal cell carcinoma, association with.|Dark hair and brown eyes, association with|MRNA levels, association with	ICGC,
chr5	26902614	26902614	G	A	exonic	CDH9	synonymous	SNV	-	-	1.635e-05	3.235e-05	rs150876106	3.314e-05	-	7.7e-05	-	-	ESCA|1|185|0.00541	-	-	-	-	-	TCGA,
chr4	86142019	86142019	G	A	intergenic	WDFY3-AS2,ARHGAP24	unknown	SNV	-	-	-	0.2685	rs34021845	-	0.289537	-	0.333	-	-	LAML-KR|1|205|0.00488	-	-	-,-	-,Autism spectrum disorder|Focal segmental glomerulosclerosis 	ICGC,
chr7	50350426	50350426	A	T	intronic	IKZF1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	integument phenotype	Systemic lupus erythematosus, association with	ICGC,
chr11	108165639	108165639	C	T	intronic	ATM	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	-	not_specified	-	mortality/aging	Tissue response in radiotherapy, association with|Multiple myelomas|Multiple cancers|Mantle cell lymphoma|Lung cancer, increased risk, association with|Longevity, association with|Longer telomere length, association with|Leukaemia risk|Increased risk of lung cancer in never smokers, association with |Hodgkin disease |Multiple sessile serrated adenoma|Non-obstructive azoospermia, increased risk|Stable coronary atherosclerotic lesions, association with |Radiotherapy tissue response|Prostate cancer  |Pancreatic cancer, association with|Pancreatic cancer|Ovarian cancer |Oral cancer susceptibility, association with|Ocular telangiectasia|Non-small-cell lung cancer, association with |Colorectal cancer?|Colorectal cancer, age of onset, association with.|Chronic lymphocytic leukaemia risk|Ataxia telangiectasia, variant|Ataxia telangiectasia, mild|Ataxia telangiectasia, late-onset variant|Ataxia telangiectasia, atypical|Ataxia telangiectasia|Ataxia telangiecstasia|Astrocytoma, association with|Acute lymphoblastic leukaemia||Breast cancer |Breast cancer risk in older women, association |Breast cancer susceptibility|Chronic lymphocytic leukaemia progression|Breast carcinoma, association with.|Breast cancer.|Breast cancer, susceptibility to |Breast cancer, susceptibility |Breast cancer, increased risk|Breast cancer, contralateral, reduced risk, association with|Breast cancer, bilateral, association with|Breast cancer, association with	ClinVar,
chr2	207202040	207202040	G	A	intergenic	ZDBF2,ADAM23	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,-	ICGC,
chr1	60766759	60766759	C	T	intergenic	C1orf87,LOC101926964	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,-	-,-	ICGC,
chr1	209218032	209218032	G	A	intergenic	PLXNA2,MIR205HG	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	vision/eye phenotype,-	Tetralogy of Fallot,-	ICGC,
chr6	62102300	62102312	GCACACCAACATG	-	intergenic	NONE,MTRNR2L9	unknown	deletion	-	-	-	0.2317	rs59643674	-	0.192891	-	0.007	COSN23356817	-	-	-	-	-,-	-,-	COSMIC,
chr3	64646771	64646771	A	C	intronic	ADAMTS9	unknown	SNV	-	-	-	0.3813	rs13097995	-	0.352236	-	0.319	COSN17965564	-	ESAD-UK|1|301|0.00332,SKCA-BR|1|100|0.01000	-	-	integument phenotype	-	COSMIC,ICGC,
chr9	9593738	9593738	G	A	intronic	PTPRD	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype	Restless legs syndrome, association with|Ewing sarcoma	ICGC,
chr11	1783429	1783429	-	C	intronic	CTSD	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	mortality/aging	Neuronal ceroid lipofuscinosis, late infantile|Neuronal ceroid lipofuscinosis  |Intelligence, association with|Creutzfeldt-Jakob disease|Cathepsin D deficiency|Alzheimer disease, association with|Alzheimer disease,  in males, association with	ICGC,
chrX	66972182	66972182	C	G	intergenic	AR,OPHN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	integument phenotype,mortality/aging	Infertility, idiopathic|Infertility, male|Premature ovarian failure |Primary amenorrhea|Prostate cancer |Prostate cancer, increased risk, association|Pseudohermaphroditism, male|Reifenstein syndrome|Spino-bulbar muscular atrophy (Kennedy disease)|Testicular dysgenesis syndrome|Urothelial carcinoma, association with|Uterine leiomyomas, association with|Very late onset of muscle weakness|Visceral adiposity and hypertension|Hypospadias.|Hypospadias, increased risk|Hypospadias|46,XY complete androgen insensitivity|Alzheimer disease, association with|Androgen insensitivity syndrome|Androgen insensitivity syndrome & Leydig cell hyperplasia|Androgen insensitivity syndrome, partial|Androgen insensitivity syndrome, partial.|Androgenetic alopecia, reduced risk, association with|Autism spectrum disorder, in females, association with|Autism spectrum disorder, protection against, in males, association with|Azoospermia, hypergonadotropic |Breast cancer, male|Defective spermatogenesis|Disorder of sex development  |Endometriosis, association with   ,Mental retardation, motor impairment & seizures |Mental retardation, seizures and tall stature|Mental retardation, seizures, ataxia, hypotonia|Mental retardation, seizures, hypoplasia & facial dysmorphism|Mental retardation, X-linked|Schizophrenia, childhood onset |Mental retardation syndrome, X-linked|Mental retardation and epilepsy|Mental retardation and cerebellar hypoplasia|Autism spectrum disorder |Cerebellar hypoplasia|Developmental delay  |Intellectual disability & dysmorphic features|Intellectual disability & hippocampal alterations|Intellectual disability, autism & myopathy	ICGC,
chrX	114484057	114484057	G	A	intergenic	LRCH2,LUZP4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19302232	-	CLLE-ES|1|510|0.00196	-	-	normal phenotype,-	-,Autism spectrum disorder	COSMIC,ICGC,
chr4	124118942	124118942	-	CTAA	intronic	SPATA5	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	-	ICGC,
chr18	38709763	38709763	C	T	intergenic	LOC101927900,KC6	unknown	SNV	-	-	-	3.306e-05	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	21104536	21104536	C	A	intergenic	LOC101927829,VENTXP7	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6761720	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr13	106656102	106656102	-	GTTG	intergenic	LINC00343,LINC00460	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr1	34382716	34382716	G	A	intronic	CSMD2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16014065	-	PACA-CA|1|268|0.00373	-	-	-	Schizophrenia	COSMIC,ICGC,
chr13	27942939	27942939	A	G	intergenic	RASL11A,GTF3A	unknown	SNV	-	-	-	0.0005	rs576722588	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr4	124178951	124178951	T	C	intronic	SPATA5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17384090	-	ESAD-UK|1|301|0.00332	-	-	-	-	COSMIC,ICGC,
chr10	107475974	107475974	C	T	ncRNA_intronic	LOC101927549	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr10	133836455	133836455	C	T	intergenic	BNIP3,JAKMIP3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20613245	-	BRCA-EU|1|569|0.00176	-	-	hematopoietic system phenotype,-	-,-	COSMIC,ICGC,
chr7	78958371	78958371	G	A	intronic	MAGI2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Seizures|Schizophrenia|Myoclonic epilepsy |Infantile spasms in Williams-Beuren syndrome|Infantile spasms|Developmental delay & microcephaly|Developmental delay  |Developmental and/or speech and/or behavioural problems	ICGC,
chr1	166116136	166116136	T	G	intronic	FAM78B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-UK|1|140|0.00714	-	-	-	-	ICGC,
chr9	88023916	88023916	G	T	intergenic	NTRK2,AGTPBP1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22012404	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging,vision/eye phenotype	Anxiety-related traits, association with|Obesity, hyperphagia, and developmental delay,-	COSMIC,ICGC,
chr4	37446129	37446129	A	G	exonic	NWD2	nonsynonymous	SNV	0.0	1.0	-	-	-	-	-	-	-	-	-	GACA-JP|1|585|0.00171	-	-	-	-	ICGC,
chr6	141908530	141908531	TC	-	intergenic	MIR4465,NMBR	unknown	deletion	-	-	-	6.575e-05	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	-,behavior/neurological phenotype	-,-	ICGC,
chr7	51004815	51004815	G	A	intergenic	GRB10,COBL	unknown	SNV	-	-	-	-	rs181819876	-	0.000599042	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,nervous system phenotype	Russell-Silver syndrome,-	ICGC,
chr2	190367602	190367602	T	A	intergenic	WDR75,SLC40A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Lower circulating tumor necrosis factor-alpha, association with|Iron overload.|Iron overload disease, ferroportin-associated|Iron overload |Hyperferritinaemia|HFE-related haemochromatosis modifier, association with |Haemochromatosis, type 4|Haemochromatosis |Elevated serum ferritin, association with	ICGC,
chr9	119008088	119008088	G	A	intronic	PAPPA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	skeleton phenotype	-	ICGC,
chr18	48180647	48180647	G	A	intronic	MAPK4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr1	167458919	167458919	G	A	intronic	CD247	unknown	SNV	-	-	-	-	rs373629880	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Systemic sclerosis, association with|Systemic lupus erythematosus, association with|Reduced expression|Immunodeficiency, T-cell defect|Immunodeficiency, severe combined	ICGC,
chr2	86907265	86907265	C	T	intronic	RNF103-CHMP3	unknown	SNV	-	-	-	3.244e-05	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr1	32773898	32773898	C	T	intronic	HDAC1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1443446	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging	-	COSMIC,COSMIC,ICGC,
chr3	194126756	194126756	C	T	exonic	ATP13A3	synonymous	SNV	-	-	3.655e-05	3.228e-05	rs201932728	4.14e-05	0.000199681	-	-	COSM6607317	-	-	-	-	-	-	COSMIC,
chr7	63252655	63252655	A	G	intergenic	MIR4283-2,LINC01005	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr2	17900083	17900083	G	A	intronic	SMC6	unknown	SNV	-	-	-	3.231e-05	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-	-	ICGC,
chr11	66983379	66983379	G	T	exonic	KDM2A	nonsynonymous	SNV	0.0	1.0	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr11	25896406	25896406	C	T	intergenic	LUZP2,ANO3	unknown	SNV	-	-	-	0.0001	rs74515558	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	normal phenotype,-	Anorectal malformation,Craniocervical dystonia|Dystonia, primary torsion	ICGC,
chr5	33623193	33623193	T	C	intronic	ADAMTS12	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	cardiovascular system phenotype	-	ICGC,
chr17	25515274	25515274	G	A	intergenic	NONE,MIR4522	unknown	SNV	-	-	-	0.2716	rs4795511	-	0.315096	-	0.058	-	-	ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488	-	-	-,-	-,-	ICGC,
chr1	87752814	87752814	T	C	intergenic	LOC101927844,LMO4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6049182	-	LIRI-JP|1|258|0.00388	-	-	-,integument phenotype	-,-	COSMIC,ICGC,
chr1	102249915	102249915	T	C	intergenic	RNU6-31P,OLFM3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr10	56354744	56354744	G	A	intronic	PCDH15	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	vision/eye phenotype	Usher syndrome II|Usher syndrome 1f|Usher syndrome 1|Lipid levels in hyperlipidaemia, association with|Hearing loss, non-syndromic|Deafness, non-syndromic, autosomal recessive|Deafness, non-syndromic |Deafness  	ICGC,
chr3	189276798	189276798	G	T	intergenic	TPRG1,TP63	unknown	SNV	-	-	-	3.24e-05	-	-	-	-	-	COSN22474745	-	BRCA-EU|1|569|0.00176	-	-	-,integument phenotype	-,EECUT plus syndrome|Limb-mammary syndrome|Lung adenocarcinoma, susceptibility to, association with|Rapp-Hodgkin syndrome|Rapp-Hodgkin/AEC/ADULT syndrome|Split hand-split foot malformation with amelogenesis imperfecta|Split-hand/split-foot and anorectal malformations.|Split-hand/split-foot malformation|EEC syndrome without clefting|EEC syndrome with linear and whorled naevoid hypermelanosis|ADULT syndrome|ADULT syndrome with cleft palate|AEC / Rapp-Hodgkin syndrome|AEC syndrome|Cleft lip, non-syndromic|Cleft palate, hypohidrosis and oligodontia|Ectrodactyly, ectodermal dysplasia, & clefting/Ectrodactyly-ectoderm. dyspl./Ectoderm. dyspl./Split hand-foot malf. type 4.|EEC syndrome	COSMIC,ICGC,
chr20	58675853	58675853	A	C	ncRNA_exonic	LOC729296	unknown	SNV	-	-	-	0.2144	rs2281623	-	0.291334	-	0.283	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr8	83381072	83381072	G	A	intergenic	SNX16,LINC01419	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9270509	-	RECA-EU|1|422|0.00237	-	-	-,-	-,-	COSMIC,ICGC,
chr2	105144169	105144169	C	T	intergenic	LINC01102,LINC01114	unknown	SNV	-	-	-	0.0002	rs762595388	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr18	19040702	19040702	C	T	intronic	GREB1L	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Potential protein deficiency	ICGC,
chr8	116298782	116298782	G	C	intergenic	CSMD3,TRPS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	Schizophrenia  |Colorectal cancer ,Tricho-rhino-phalangeal syndrome with supernumerary teeth|Tricho-rhino-phalangeal syndrome III|Tricho-rhino-phalangeal syndrome I|Tricho-rhino-phalangeal syndrome|Infantile scoliosis & developmental delay|Femoral neck width, association with|Ambras syndrome	ICGC,
chr8	106697382	106697382	T	-	intronic	ZFPM2	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176,LIRI-JP|1|258|0.00388	-	-	integument phenotype	Atrial septal defect & gonadal dysgenesis|Diaphragmatic hernia, congenital|Double outlet right ventricle |Gonadal dysgenesis |Reduced activity|Tetralogy of Fallot 	ICGC,
chrX	119756401	119756401	T	-	intergenic	MCTS1,C1GALT1C1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,mortality/aging	-,-	ICGC,
chr11	9111371	9111371	C	G	exonic	SCUBE2	nonsynonymous	SNV	0.001	1.0	-	-	-	-	-	-	-	COSM3792028	BLCA|1|396|0.00253	BLCA-US|1|133|0.00752	-	-	-	Autism 	COSMIC,COSMIC,TCGA,ICGC,
chr3	65123765	65123765	G	A	intergenic	ADAMTS9-AS2,MAGI1	unknown	SNV	-	-	-	0.5351	rs7636917	-	0.534145	-	0.514	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,Schizophrenia  |Bipolar affective disorder  	ICGC,
chr7	123292922	123292922	C	G	intergenic	ASB15,LMOD2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr20	24417643	24417643	T	A	intergenic	FLJ33581,SYNDIG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	35486822	35486822	G	T	intergenic	NONE,ARAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr1	211711195	211711195	G	A	intergenic	RD3,SLC30A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	vision/eye phenotype,mortality/aging	Retinitis pigmentosa, autosomal recessive/Leber congenital amaurosis|Retinitis pigmentosa, autosomal recessive|Retinitis pigmentosa|Retinal degeneration|Leber congenital amaurosis / retinal dystrophy, early-onset severe|Leber congenital amaurosis,-	ICGC,
chr17	75775346	75775346	G	A	intergenic	LOC100132174,FLJ45079	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr1	87657355	87657355	G	A	intergenic	LINC01140,LOC101927844	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr1	179491314	179491314	T	A	intronic	AXDND1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21427841	-	BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chrX	102192696	102192696	G	A	exonic	RAB40AL	synonymous	SNV	-	-	-	-	-	-	-	-	-	-	BLCA|1|396|0.00253	-	-	-	-	Martin-Probst syndrome	TCGA,
chrX	54897982	54897982	C	T	intergenic	MAGED2,TRO	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,-	ICGC,
chrX	81184328	81184328	G	T	intergenic	SH3BGRL,POU3F4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9728523	-	RECA-EU|1|422|0.00237	-	-	-,integument phenotype	-,X-linked mixed deafness|X-linked deafness|Sensorineural hearing loss  |Mixed hearing loss |Hearing loss, X-linked nonsyndromic|Hearing loss & mental retardation	COSMIC,ICGC,
chr2	105050708	105050708	T	A	upstream	LINC01102	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-JP|1|585|0.00171	-	-	-	-	ICGC,
chr6	133662799	133662799	A	T	intronic	EYA4	unknown	SNV	-	-	-	-	rs111554114	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Sensorineural hearing loss, nonsyndromic  |Sensorineural hearing loss, cardiac malformation & mental retardation|Sensorineural deafness|Late-onset deafness|Holoprosencephaly, middle interhemispheric variant|Hearing loss  |Dilated cardiomyopathy and sensorineural deafness	ICGC,
chr1	234785961	234785961	C	T	intergenic	LINC00184,LINC01132	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr18	54553326	54553326	A	G	intronic	WDR7	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6416597	-	LINC-JP|1|394|0.00254	-	-	-	-	COSMIC,ICGC,
chr1	30233107	30233107	C	T	intergenic	LOC101928460,LOC101929406	unknown	SNV	-	-	-	0.0007	rs558491363	-	0.000399361	-	-	COSN25438970	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	COSMIC,ICGC,
chr14	78584814	78584814	G	A	intergenic	ADCK1,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr13	19502699	19502699	C	G	intergenic	LINC00408,LINC00442	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr2	52068094	52068094	C	T	intergenic	NRXN1,ASB3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Hypotonia|Hypotonia & encephalopathy|Increased white matter volume, association with|Intellectual disability  |Intellectual disability & attention deficit hyperactivity disorder|Intellectual disability & hearing loss|Intellectual disability & pervasive developmental disorder|Intellectual disability and autism|Intellectual disability, nonsyndromic |Intellectual disability, seizures, dysmorphisms & language delay|Growth retardation  |Epilepsy, myoclonic seizures & speech delay|Developmental disorder|Developmental disorder & attention deficit hyperactivity disorder|Developmental disorder, seizures & attention deficit hyperactivity disorder|Developmental/intellectual disability, hypotonia & dysmorphic features|Disorder of muscle, ligament & fascia|Encephalopathy  |Epilepsy  |Epilepsy with cognitive impairment / autism spectrum disorder|Epilepsy with focal seizures|Epilepsy, generalised |Intellectual disability, seizures, language delay & hypotonia|Language delay|Learning difficulties|Respiratory distress & sepsis|Respiratory distress syndrome|Schizophrenia |Schizophrenia, childhood onset |Schizophrenia, disorganised type|Seizures, generalized tonic-clonic & attention deficit hyperactivity disorder|Sensory integration disorder & attention deficit hyperactivity disorder|Speech delay & social communication difficulties|Tourette syndrome|Pervasive developmental disorder / hypotonia|Pervasive developmental disorder|Pervasive developmental delay / mental retardation, lack of coordination & hearing loss|Learning difficulties, ADHD & autism|Mental retardation|Mental retardation, autism, vertebral malformations|Mental retardation, Pitt-Hopkins-like|Microcephaly & mental retardation|Multiple congenital anomalies  |Multiple disabilities|Myoclonic epilepsy   |Neurodevelopmental disorder  |Vertebral anomalies|Developmental delay, speech delay & social communication difficulties|Attention deficit hyperactivity disorder |Autism spectrum disorder, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability & language delay|Autism spectrum disorder, intellectual disability, dysmorphisms, developmental delay & language delay|Autism spectrum disorder, intellectual disability, seizures & developmental delay|Autism spectrum disorder, intellectual disability, seizures, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability, seizures, dysmorphisms & language delay|Autism spectrum disorder, seizures, developmental delay & language delay|Autism, intellectual disability & attention deficit hyperactivity disorder|Autistic disorder|Autism spectrum disorder with developmental & speech delay|Autism spectrum disorder & seizures|Autism spectrum disorder & language delay|Autism |Autism & learning difficulties|Autism & mental retardation|Autism & seizures|Autism spectrum disorder|Autism spectrum disorder & attention deficit hyperactivity disorder|Autism spectrum disorder & developmental delay|Autism spectrum disorder & dysmorphic features|Autism spectrum disorder & intellectual disability|Behavioural problems|Congenital heart defect  |Craniofacial dysmorphism|Developmental delay & speech/motor delay|Developmental delay with early-onset epilepsy|Developmental delay, dysmorphic features & short stature|Developmental delay, epilepsy, autism|Developmental delay, language delay & hypotonia|Developmental delay, learning difficulties, ADHD|Developmental delay, microcephaly & behavioural problems|Developmental delay, pulmonic stenosis & autism spectrum disorder|Developmental delay, short stature and diaphragmatic hernia|Developmental delay, speech delay & microcephaly|Developmental delay & seizures|Developmental delay & seizure disorder|Cystic hygroma, hydrops & micrognathia|Cystic hygroma, shortened upper limbs & fetal demise|Developmental & speech delay|Developmental delay|Developmental delay / autism|Developmental delay & autism|Developmental delay & dysmorphic features|Developmental delay & epilepsy|Developmental delay & hypotonia|Developmental delay & multiple congenital anomalies,-	ICGC,
chr1	247168333	247168333	G	T	ncRNA_intronic	ZNF670-ZNF695	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-	-	ICGC,
chr10	53281794	53281794	C	G	intronic	PRKG1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5251731	-	LINC-JP|1|394|0.00254	-	-	mortality/aging	Thoracic aortic aneurysms and dissections	COSMIC,ICGC,
chr3	160583187	160583187	G	A	intronic	PPM1L	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15152517	-	ESAD-UK|1|301|0.00332	-	-	cardiovascular system phenotype	-	COSMIC,ICGC,
chr21	17854296	17854296	C	T	ncRNA_intronic	LINC00478	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-	-	ICGC,
chr1	51108856	51108856	G	A	intronic	FAF1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Pierre Robin sequence  	ICGC,
chr8	73617619	73617619	G	A	intronic	KCNB2	unknown	SNV	-	-	-	3.228e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	Tetralogy of Fallot	ICGC,
chr3	96745350	96745350	-	T	intronic	EPHA6	unknown	insertion	-	-	-	3.232e-05	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	behavior/neurological phenotype	Alzheimer disease  	ICGC,
chr5	86424492	86424492	G	A	ncRNA_intronic	LOC101929380	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493,SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr18	31164632	31164632	A	T	intronic	ASXL3	unknown	SNV	-	-	-	0.1780	rs7237585	-	0.186302	-	0.254	-	-	LAML-KR|1|205|0.00488	-	-	-	Bohring-Opitz like syndrome|Developmental delay, microcephaly, and craniofacial anomalies|Potential protein deficiency	ICGC,
chr11	14648167	14648167	C	T	intronic	PSMA1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	-	ICGC,
chr12	61779645	61779645	G	A	intergenic	SLC16A7,FAM19A2	unknown	SNV	-	-	-	0.0001	rs575261475	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	Autism spectrum disorder,-	ICGC,
chr18	44650386	44650386	G	A	intronic	HDHD2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	-	ICGC,
chr12	115649470	115649470	C	T	intergenic	TBX3,MED13L	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Ulnar-mammary syndrome,Intellectual disability, nonsyndromic, no cardiac involvement|Hypotonia, learning difficulties & perimembranous ventricular septal defect|Hypotonia, intellectual disability, conotruncal heart defect & facial anomalies|Congenital heart defect|Colorectal cancer, increased risk, association with |Autism	ICGC,
chr9	11349979	11349979	G	A	intergenic	PTPRD-AS2,TYRP1	unknown	SNV	-	-	-	0.0002	rs763589716	-	-	-	-	COSN20143706	-	PACA-CA|1|268|0.00373	-	-	-,integument phenotype	-,Albinism, oculocutaneous  |Albinism, oculocutaneous 3|Melanesian blond hair	COSMIC,ICGC,
chr6	57800026	57800026	C	T	intergenic	PRIM2,GUSBP4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	Potential protein deficiency,-	ICGC,
chr2	89273005	89273005	G	A	intergenic	MIR4436A,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr6	155368347	155368347	C	T	intergenic	SCAF8,TIAM2	unknown	SNV	-	-	-	9.686e-05	rs750036891	-	-	-	-	COSN22055590	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,Potential protein deficiency	COSMIC,ICGC,
chr3	81084520	81084520	G	A	intergenic	ROBO1,GBE1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,mortality/aging	Developmental dyslexia ,Potential protein deficiency|Polyglucosan body disease, relapsing-remitting form|Polyglucosan body disease, adult|Lethal multiple pterygium syndrome|Glycogen storage disease 4, non-lethal neuromuscular|Glycogen storage disease 4, neonatal|Glycogen storage disease 4|Autism spectrum disorder|Adult polyglucosan body disease	ICGC,
chr19	470227	470227	G	A	intronic	ODF3L2	unknown	SNV	-	-	-	0.0159	rs574138420	-	0.00738818	-	-	-	-	PBCA-US|2|186|0.01075	-	-	-	-	ICGC,
chr8	41642504	41642504	G	A	intronic	ANK1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Schizophrenia|Spherocytosis|Spherocytosis, psychomotor developmental delay & facial features	ICGC,
chr17	44367968	44367968	A	G	intergenic	LOC644172,LRRC37A	unknown	SNV	-	-	-	3.233e-05	-	-	-	-	-	COSN19120304	-	CLLE-ES|1|510|0.00196	-	-	-,-	-,-	COSMIC,ICGC,
chr18	47528778	47528778	G	A	intronic	MYO5B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Microvillus inclusion disease	ICGC,
chr8	145624197	145624197	G	A	exonic	CPSF1	nonsynonymous	SNV	-	1.0	4.115e-06	-	-	-	-	-	-	COSM6634833	-	-	-	-	-	-	COSMIC,
chr11	42888602	42888602	A	G	intergenic	LOC100507205,HNRNPKP3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	-,-	ICGC,
chr6	101115760	101115760	G	A	intronic	ASCC3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	other phenotype	Colorectal cancer, increased risk, association with|Intellectual disability  	ICGC,
chr3	154136388	154136388	G	T	intronic	GPR149	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21771370	-	BRCA-UK|1|141|0.00709,BRCA-EU|1|569|0.00176	-	-	reproductive system phenotype	-	COSMIC,ICGC,
chr8	90862075	90862075	A	G	intergenic	RIPK2,OSGIN2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	hematopoietic system phenotype,-	Autism spectrum disorder,-	ICGC,
chr2	174836051	174836051	G	T	intergenic	SP3,OLA1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	integument phenotype,-	-,-	ICGC,
chr21	27784484	27784484	A	-	intergenic	APP,CYYR1	unknown	deletion	-	-	-	0.3752	rs33926215	-	0.296526	-	-	-	-	COCA-CN|1|321|0.00312	-	-	integument phenotype,-	Dementia and cerebral microvasculopathy.|Dementia, early-onset |Myoclonic epilepsy   |Potential protein deficiency|Reduced expression|Schizophrenia|Cerebral haemorrhage|Cerebral amyloid angiopathy|Alzheimer disease|Alzheimer disease with cerebral amyloid angiopathy|Alzheimer disease, association with|Alzheimer disease, early onset|Alzheimer disease, protection against |Amyloidosis in cerebral hemorrhage patients,-	ICGC,
chr14	90977791	90977791	A	C	intergenic	LINC00642,TTC7B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr12	129201157	129201157	G	A	intergenic	TMEM132C,SLC15A4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,immune system phenotype	-,Systemic lupus erythematosus, association with	ICGC,
chr13	72823070	72823070	G	A	intergenic	DACH1,MZT1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22250471	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging,-	Renal hypodysplasia,-	COSMIC,ICGC,
chr11	64788048	64788048	A	G	ncRNA_intronic	ARL2-SNX15	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5263039	-	LINC-JP|1|394|0.00254	-	-	-	-	COSMIC,COSMIC,ICGC,
chr12	78426365	78426365	G	A	intronic	NAV3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr5	151377760	151377760	T	A	ncRNA_intronic	CTB-12O2.1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr8	4653802	4653802	G	A	intronic	CSMD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	Schizophrenia, association with |Hyperinsulinism|Autism|Attention deficit hyperactivity disorder 	ICGC,
chrX	141515575	141515575	G	T	intergenic	MAGEC2,SPANXN4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr7	100385503	100385503	C	T	intronic	ZAN	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	reproductive system phenotype	Autism spectrum disorder|Potential protein deficiency	ICGC,
chr4	92342997	92342997	G	A	intronic	CCSER1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr4	62588445	62588445	C	T	intronic	LPHN3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	-	ICGC,
chr14	62853345	62853345	G	A	intergenic	LINC00644,KCNH5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,behavior/neurological phenotype	-,Epileptic encephalopathy 	ICGC,
chr8	77654063	77654063	G	A	intronic	ZFHX4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25498534	-	MALY-DE|1|241|0.00415	-	-	-	Tetralogy of Fallot|Intellectual disability with facial anomalies|Intellectual disability and dysmorphisms|Bilateral isolated ptosis 	COSMIC,ICGC,
chr20	52368851	52368851	-	ATGTGT	intergenic	ZNF217,SUMO1P1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|2|67|0.02985	-	-	-,-	-,-	ICGC,
chrX	117596534	117596534	C	T	intergenic	WDR44,DOCK11	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	normal phenotype,-	-,-	ICGC,
chr9	28369662	28369662	C	T	intronic	LINGO2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-	Autism spectrum disorder  |Developmental delay with absent speech	ICGC,
chr12	78400211	78400211	G	T	exonic	NAV3	nonsynonymous	SNV	0.005	0.883	-	-	-	-	-	-	-	COSM695001	LUSC|1|178|0.00562	LUSC-US|1|194|0.00515	-	-	-	-	COSMIC,TCGA,ICGC,
chr14	28438443	28438443	-	ACC	intergenic	LINC00645,FOXG1	unknown	insertion	-	-	-	0.3073	rs143411274	-	0.386382	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	-,West syndrome |Rett-like syndrome|Rett syndrome|Refractory epilepsy & intellectual impairment|Microcephaly, mental retardation & thin genu of corpus callosum|Mental retardation, speech impairment & epilepsy|Mental retardation & speech impairment|Mental retardation & postnatal microcephaly|Mental retardation & callosum abnormalities|Mental retardation|Infantile spasms|Hemifacial microsomia|Generalized dystonia, athetosis and parkinsonism|Developmental delay, microcephaly & hypoplasia of the corpus callosum|Developmental delay, hypotonia, microcephaly & infantile spasms|Developmental delay & slow head growth|Agenesis of corpus callosum	ICGC,
chr4	117782715	117782715	A	T	intergenic	MIR1973,TRAM1L1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr2	160556496	160556496	C	G	intergenic	LOC643072,MARCH7	unknown	SNV	-	-	-	0.3080	rs6749231	-	0.249601	-	0.355	-	-	LAML-KR|1|205|0.00488	-	-	-,hematopoietic system phenotype	-,-	ICGC,
chr19	6339389	6339389	C	T	intergenic	ACER1,CLPP	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Perrault syndrome	ICGC,
chr8	3570527	3570527	C	T	intronic	CSMD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Schizophrenia, association with |Hyperinsulinism|Autism|Attention deficit hyperactivity disorder 	ICGC,
chrX	128267983	128267983	C	T	intergenic	ACTRT1,SMARCA1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,behavior/neurological phenotype	-,-	ICGC,
chr12	28170029	28170029	C	T	intergenic	PTHLH,CCDC91	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	integument phenotype,-	Brachydactyly type E|Enchondromatosis  |Peak bone mass, association with ,-	ICGC,
chr2	161981509	161981509	T	A	intergenic	RBMS1,TANK	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9864828	-	RECA-EU|1|422|0.00237	-	-	mortality/aging,mortality/aging	-,-	COSMIC,ICGC,
chr16	25542292	25542292	A	T	intergenic	ZKSCAN2,HS3ST4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	ICGC,
chr7	8172515	8172515	G	A	intronic	ICA1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	-	ICGC,
chr17	27887894	27887894	G	A	UTR3	ABHD15	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr2	234375332	234375332	C	T	intronic	DGKD	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Seizures	ICGC,
chr22	31963359	31963359	C	T	intronic	SFI1	unknown	SNV	-	-	-	0.0003	rs146305904	-	0.00239617	-	0.007	COSN5803143	-	EOPC-DE|1|202|0.00495	-	-	-	-	COSMIC,ICGC,
chr2	52046140	52046140	C	T	intergenic	NRXN1,ASB3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20603469	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389,MELA-AU|2|183|0.01093	-	-	mortality/aging,-	Hypotonia|Hypotonia & encephalopathy|Increased white matter volume, association with|Intellectual disability  |Intellectual disability & attention deficit hyperactivity disorder|Intellectual disability & hearing loss|Intellectual disability & pervasive developmental disorder|Intellectual disability and autism|Intellectual disability, nonsyndromic |Intellectual disability, seizures, dysmorphisms & language delay|Growth retardation  |Epilepsy, myoclonic seizures & speech delay|Developmental disorder|Developmental disorder & attention deficit hyperactivity disorder|Developmental disorder, seizures & attention deficit hyperactivity disorder|Developmental/intellectual disability, hypotonia & dysmorphic features|Disorder of muscle, ligament & fascia|Encephalopathy  |Epilepsy  |Epilepsy with cognitive impairment / autism spectrum disorder|Epilepsy with focal seizures|Epilepsy, generalised |Intellectual disability, seizures, language delay & hypotonia|Language delay|Learning difficulties|Respiratory distress & sepsis|Respiratory distress syndrome|Schizophrenia |Schizophrenia, childhood onset |Schizophrenia, disorganised type|Seizures, generalized tonic-clonic & attention deficit hyperactivity disorder|Sensory integration disorder & attention deficit hyperactivity disorder|Speech delay & social communication difficulties|Tourette syndrome|Pervasive developmental disorder / hypotonia|Pervasive developmental disorder|Pervasive developmental delay / mental retardation, lack of coordination & hearing loss|Learning difficulties, ADHD & autism|Mental retardation|Mental retardation, autism, vertebral malformations|Mental retardation, Pitt-Hopkins-like|Microcephaly & mental retardation|Multiple congenital anomalies  |Multiple disabilities|Myoclonic epilepsy   |Neurodevelopmental disorder  |Vertebral anomalies|Developmental delay, speech delay & social communication difficulties|Attention deficit hyperactivity disorder |Autism spectrum disorder, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability & language delay|Autism spectrum disorder, intellectual disability, dysmorphisms, developmental delay & language delay|Autism spectrum disorder, intellectual disability, seizures & developmental delay|Autism spectrum disorder, intellectual disability, seizures, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability, seizures, dysmorphisms & language delay|Autism spectrum disorder, seizures, developmental delay & language delay|Autism, intellectual disability & attention deficit hyperactivity disorder|Autistic disorder|Autism spectrum disorder with developmental & speech delay|Autism spectrum disorder & seizures|Autism spectrum disorder & language delay|Autism |Autism & learning difficulties|Autism & mental retardation|Autism & seizures|Autism spectrum disorder|Autism spectrum disorder & attention deficit hyperactivity disorder|Autism spectrum disorder & developmental delay|Autism spectrum disorder & dysmorphic features|Autism spectrum disorder & intellectual disability|Behavioural problems|Congenital heart defect  |Craniofacial dysmorphism|Developmental delay & speech/motor delay|Developmental delay with early-onset epilepsy|Developmental delay, dysmorphic features & short stature|Developmental delay, epilepsy, autism|Developmental delay, language delay & hypotonia|Developmental delay, learning difficulties, ADHD|Developmental delay, microcephaly & behavioural problems|Developmental delay, pulmonic stenosis & autism spectrum disorder|Developmental delay, short stature and diaphragmatic hernia|Developmental delay, speech delay & microcephaly|Developmental delay & seizures|Developmental delay & seizure disorder|Cystic hygroma, hydrops & micrognathia|Cystic hygroma, shortened upper limbs & fetal demise|Developmental & speech delay|Developmental delay|Developmental delay / autism|Developmental delay & autism|Developmental delay & dysmorphic features|Developmental delay & epilepsy|Developmental delay & hypotonia|Developmental delay & multiple congenital anomalies,-	COSMIC,COSMIC,ICGC,
chr4	105322591	105322591	C	T	intergenic	TACR3,CXXC4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	behavior/neurological phenotype,-	Kallmann syndrome|Hypogonadotropic hypogonadism,-	ICGC,
chr20	51734903	51734903	G	A	intronic	TSHZ2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging	Schizophrenia	ICGC,
chr15	67680632	67680632	G	A	intronic	IQCH	unknown	SNV	-	-	-	6.46e-05	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-	-	ICGC,
chr3	177518246	177518246	T	C	intergenic	LINC00578,LOC102724550	unknown	SNV	-	-	-	0.0003	-	-	-	-	-	COSN7837418	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	COSMIC,ICGC,
chr3	68367689	68367689	A	T	intronic	FAM19A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr3	25927892	25927892	C	G	intergenic	LINC00692,LRRC3B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15524457	-	OV-AU|1|93|0.01075	-	-	-,nervous system phenotype	-,-	COSMIC,COSMIC,ICGC,
chr11	91260529	91260529	T	C	intergenic	DISC1FP1,FAT3	unknown	SNV	-	-	-	0.1167	rs72963340	-	0.14397	-	0.188	-	-	ESAD-UK|2|301|0.00664,LAML-KR|1|205|0.00488	-	-	-,vision/eye phenotype	-,Autism spectrum disorder	ICGC,
chr20	5208806	5208806	C	T	intergenic	CDS2,PROKR2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,integument phenotype	-,Kallmann syndrome, reversible|Kallmann syndrome|Hypothalamic amenorrhea|Hypopituitarism with pituitary stalk interruption|Hypopituitarism and septo-optic dysplasia|Hypopituitarism|Hypogonadotropic hypogonadism|Hypogonadism|Hirschsprung disease |GnRH deficiency|Combined pituitary hormone deficiency / septic-optic dysplasia	ICGC,
chr2	173042224	173042224	T	C	intergenic	DLX2,ITGA6	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17121971	-	-	-	-	mortality/aging,integument phenotype	-,Epidermolysis bullosa with pyloric atresia|Epidermolysis bullosa, junctional	COSMIC,
chr6	99364465	99364465	G	A	intronic	FBXL4	unknown	SNV	-	-	-	9.812e-05	-	-	-	-	-	-	-	PBCA-US|2|186|0.01075	-	-	-	Mitochondrial encephalopathy, early-onset	ICGC,
chr3	135539198	135539198	C	T	intergenic	EPHB1,PPP2R3A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	vision/eye phenotype,-	-,-	ICGC,
chr2	140888654	140888654	G	A	intergenic	YY1P2,LRP1B	unknown	SNV	-	-	-	-	rs529253830	-	0.000399361	-	-	COSN19036523	-	CLLE-ES|1|510|0.00196	-	-	-,mortality/aging	-,Schizophrenia   	COSMIC,ICGC,
chr3	156374177	156374177	C	T	intergenic	SSR3,TIPARP-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	-,-	ICGC,
chr11	132592876	132592876	A	C	intronic	OPCML	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17815385	-	ESAD-UK|1|301|0.00332	-	-	no phenotypic analysis	Autism spectrum disorder  	COSMIC,ICGC,
chr6	73678617	73678617	G	A	intronic	KCNQ5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Schizophrenia	ICGC,
chr1	17475971	17475971	G	A	intergenic	PADI2,PADI1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	immune system phenotype,-	-,-	ICGC,
chr2	165937566	165937566	T	C	intergenic	SLC38A11,SCN3A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Autism spectrum disorder|Epilepsy, cryptogenic pediatric partial|Epilepsy, focal  	ICGC,
chr1	63934564	63934575	ATAAATAAATAA	-	intronic	ITGB3BP	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|4|67|0.05970	-	-	-	-	ICGC,
chr7	410976	411047	GCTCAACACACCCAAATGGCCCAGCACACAGTAGGCATCCAACACACCCAAGGGGCCCAGCACACAGTAGGC	-	intergenic	WI2-2373I1.2,LOC442497	unknown	deletion	-	-	-	3.998e-05	-	-	-	-	-	COSN24967165	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	COSMIC,ICGC,
chrX	69189728	69189728	G	A	intronic	EDA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Tooth agenesis.|Tooth agenesis|Oligodontia   |Hypodontia|Ectodermal dysplasia, X-linked hypohidrotic with bilateral glaucoma|Ectodermal dysplasia, hypohidrotic.|Ectodermal dysplasia, hypohidrotic & inability to sweat|Ectodermal dysplasia, hypohidrotic|Ectodermal dysplasia	ICGC,
chr3	82866326	82866326	G	T	intergenic	GBE1,LINC00971	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging,-	Potential protein deficiency|Polyglucosan body disease, relapsing-remitting form|Polyglucosan body disease, adult|Lethal multiple pterygium syndrome|Glycogen storage disease 4, non-lethal neuromuscular|Glycogen storage disease 4, neonatal|Glycogen storage disease 4|Autism spectrum disorder|Adult polyglucosan body disease,-	ICGC,
chr3	81209122	81209122	-	A	intergenic	ROBO1,GBE1	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN14748435	-	-	-	-	mortality/aging,mortality/aging	Developmental dyslexia ,Potential protein deficiency|Polyglucosan body disease, relapsing-remitting form|Polyglucosan body disease, adult|Lethal multiple pterygium syndrome|Glycogen storage disease 4, non-lethal neuromuscular|Glycogen storage disease 4, neonatal|Glycogen storage disease 4|Autism spectrum disorder|Adult polyglucosan body disease	COSMIC,
chr11	8301861	8301861	C	T	intergenic	LMO1,STK33	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	mortality/aging,-	-,Potential protein deficiency	ICGC,
chr13	94234377	94234377	C	T	intronic	GPC6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Omodysplasia|Pancreatic cancer 	ICGC,
chr13	37882341	37882341	C	T	intergenic	CSNK1A1L,LINC00547	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Potential protein deficiency,-	ICGC,
chr6	54536752	54536752	C	T	intergenic	TINAG,FAM83B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|2|71|0.02817	-	-	-,-	Chronic renal failure, childhood-onset,-	ICGC,
chr6	35702461	35702461	C	T	ncRNA_intronic	LOC285847	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr17	54390533	54390533	A	T	intronic	ANKFN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr11	62462603	62462603	C	A	ncRNA_intronic	HNRNPUL2-BSCL2	unknown	SNV	-	-	-	0.0003	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr1	111547366	111547366	C	T	intergenic	LRIF1,DRAM2	unknown	SNV	-	-	-	3.228e-05	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	-,-	-,-	ICGC,
chr7	66461698	66461698	C	T	upstream	TYW1	unknown	SNV	-	-	-	3.229e-05	-	-	-	-	-	-	-	MELA-AU|3|183|0.01639	-	-	-	-	ICGC,
chr9	5266735	5266735	C	G	intergenic	INSL4,RLN2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	ICGC,
chr3	138556544	138556544	-	AATT	intergenic	PIK3CB,LINC01391	unknown	insertion	-	-	-	0.0002	rs750695965	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	Attenuated insulin resistance in obese children, association with|Mammographic breast density, association with,-	ICGC,
chr6	102310465	102310465	T	C	intronic	GRIK2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16014150	-	PACA-CA|1|268|0.00373	-	-	behavior/neurological phenotype	Mental retardation, non-syndromic, autosomal recessive	COSMIC,ICGC,
chr3	174841490	174841490	T	A	intronic	NAALADL2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr8	54625529	54625529	T	-	intergenic	OPRK1,ATP6V1H	unknown	deletion	-	-	-	-	-	-	-	-	-	COSN27003545	-	-	-	-	integument phenotype,-	Alcohol dependence, association with|Opiate addiction, association with ,Schizophrenia  	COSMIC,COSMIC,
chr4	71049583	71049583	-	CAAA	intergenic	PRR27,ODAM	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr3	34884014	34884014	G	A	intergenic	PDCD6IP,LOC101928135	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Hepatocellular carcinoma, increased risk, association with,-	ICGC,
chr12	2671314	2671314	G	A	intronic	CACNA1C	unknown	SNV	-	-	-	6.605e-05	rs559489694	-	0.000599042	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Timothy syndrome|Schizophrenia / bipolar disorder, assoc with |Schizophrenia  |Long QT syndrome.|Long QT syndrome|Early repolarization syndrome|Cardiomyopathy, hypertrophic.|Cardiomyopathy, hypertrophic|Cardiac arrhythmia|Brugada syndrome (shorter-than-normal QT interval)|Autism spectrum disorder	ICGC,
chr11	55597344	55597344	G	A	intergenic	OR5L2,OR5D16	unknown	SNV	-	-	-	9.706e-05	-	-	-	-	-	COSN24539268	-	GACA-CN|1|123|0.00813	-	-	-,-	Potential protein deficiency,-	COSMIC,ICGC,
chr4	25615637	25615637	G	T	intergenic	ANAPC4,SLC34A2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,mortality/aging	-,Potential protein deficiency|Pulmonary alveolar microlithiasis	ICGC,
chr22	36044723	36044723	G	A	intronic	APOL6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Metabolic syndrome, increased risk	ICGC,
chr3	191092859	191092859	G	T	exonic	CCDC50	nonsynonymous	SNV	0.024	0.282	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	Hearing loss, progressive	ICGC,
chr8	32083707	32083707	A	G	intronic	NRG1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN14850675	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype	Sudden cardiac death, association with|Schizophrenia, association with  |Schizophrenia in African Americans, association with|Prepulse inhibition, association with|Perceptual aberration of schizotypal personality, association with|Increased lateral ventricle volume in schizophrenia|Hirschsprung disease|Developmental delay, hypotonia & microcephaly|Alzheimers disease, association with	COSMIC,ICGC,
chr12	8183007	8183007	G	T	intergenic	SLC2A3,FOXJ2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19524204	-	-	-	-	mortality/aging,-	Rheumatoid arthritis, protection against,-	COSMIC,
chr2	69889792	69889792	-	T	intergenic	AAK1,ANXA4	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,behavior/neurological phenotype	-,-	ICGC,
chr2	36895627	36895627	G	A	intergenic	FEZ2,VIT	unknown	SNV	-	-	-	0.0002	rs545350696	-	0.000399361	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Potential protein deficiency	ICGC,
chr12	56645762	56645762	G	T	intronic	ANKRD52	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17212441	-	PACA-CA|1|268|0.00373	-	-	-	-	COSMIC,ICGC,
chr8	65791070	65791070	A	G	intergenic	CYP7B1,LINC00251	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	integument phenotype,-	Spastic paraplegia 5a.|Spastic paraplegia 5a|Spastic paraplegia 5 with sensory ataxia|Spastic paraplegia 5|Spastic paraplegia|Increased transcriptional activity|HIV 1 infection, reduced risk, association with|Cholestasis, severe,-	ICGC,
chr2	43878770	43878770	G	A	intronic	PLEKHH2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7804150	-	PACA-CA|1|268|0.00373	-	-	-	-	COSMIC,ICGC,
chr12	24449564	24449564	T	A	intronic	SOX5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Intellectual disability  |Developmental delays|Autism spectrum disorder  	ICGC,
chr22	33515319	33515319	-	T	intergenic	SYN3,LARGE	unknown	insertion	-	-	-	0.0006	rs376561811	-	-	-	-	-	-	ESAD-UK|1|301|0.00332,LIRI-JP|1|258|0.00388	-	-	cellular phenotype,mortality/aging	Schizophrenia, association with ,Alpha-dystroglycanopathy |Autism, non-complex|Fukushima congenital muscular dystrophy|Muscular dystrophy, congenital 1D|Walker-Warburg syndrome|Walker-Warburg syndrome.	ICGC,
chr20	9686181	9686181	C	T	intronic	PAK7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Glaucoma, primary open angle |Elevated LDL-cholesterol and triglyceride levels, association with.|Colorectal cancer, increased risk, association with	ICGC,
chr12	6327009	6327009	A	G	intronic	CD9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	UTCA-FR|1|20|0.05000	-	-	hematopoietic system phenotype	-	ICGC,
chr13	57829445	57829445	G	A	intergenic	PRR20A,PCDH17	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr12	73588631	73588631	G	T	ncRNA_intronic	LOC101928137	unknown	SNV	-	-	-	0.0076	-	-	-	-	-	COSN20302908	-	LAML-KR|1|205|0.00488,LUSC-KR|1|170|0.00588	-	-	-	-	COSMIC,ICGC,
chr7	71303832	71303832	G	T	intronic	CALN1	unknown	SNV	-	-	-	3.231e-05	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr19	53613326	53613326	T	A	intronic	ZNF415	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17824217	-	ESAD-UK|1|301|0.00332	-	-	-	-	COSMIC,ICGC,
chr4	151778844	151778844	T	C	intronic	LRBA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-	Autoimmunity|Hypogammaglobulinaemia, early-onset with autoimmunity & inflammatory bowel disease|Immunodeficiency, common variable 	ICGC,
chr2	125227744	125227744	T	C	intronic	CNTNAP5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16510755	-	PACA-AU|1|391|0.00256	-	-	-	Autism	COSMIC,ICGC,
chr3	3911705	3911705	A	T	intergenic	LRRN1,SETMAR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	behavior/neurological phenotype,-	-,-	ICGC,
chr7	138400821	138400821	C	T	intronic	ATP6V0A4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Distal renal tubular acidosis, autosomal recessive|Distal renal tubular acidosis, with sensorineural hearing loss|Renal tubular acidosis, sensorineural deafness	ICGC,
chr1	90769294	90769294	G	A	intergenic	ZNF326,BARHL2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-,mortality/aging	Schizophrenia,-	ICGC,
chr18	44577390	44577390	C	A	intronic	KATNAL2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	Autism	ICGC,
chr1	234494414	234494414	G	A	intergenic	SLC35F3,COA6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr15	27093385	27093385	A	G	intergenic	GABRB3,GABRA5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	mortality/aging,skeleton phenotype	Neurological deficits of Angelman syndrome|Mesial temporal lobe epilepsy with depression, association with|Increased promoter activity|Epilepsy, childhood absence, association with|Chronic insomnia |Autism, association with |Autism spectrum disorder|Anorectal malformation,-	ICGC,
chr10	92259485	92259485	C	T	ncRNA_intronic	LOC101926942	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr3	119151583	119151583	A	G	intronic	TMEM39A	unknown	SNV	-	-	-	0.1449	rs12496277	-	0.139776	-	0.254	-	-	LAML-KR|1|205|0.00488	-	-	-	Multiple sclerosis susceptibility, association with |Systemic lupus erythematosus susceptibility, association with	ICGC,
chr4	117751454	117751454	A	T	intergenic	MIR1973,TRAM1L1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr4	157874794	157874794	A	C	intronic	PDGFC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Ovarian cancer, poor survival, association with|Cleft lip with or without cleft palate, association|Bilateral cleft lip & thumb polydactyly	ICGC,
chr13	65575542	65575542	C	T	intergenic	OR7E156P,PCDH9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr9	135249621	135249621	G	T	intergenic	SETX,TTF1	unknown	SNV	-	-	-	0.0078	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	Cerebellar ataxia/tremor syndrome |Cervical dystonia, primary.|Childhood apraxia of speech ?|Chorea and motor neuron disease|Spinal muscular atrophy |Ataxia-ocular apraxia 2, atypical|Ataxia-ocular apraxia 2|Amyotrophic lateral sclerosis   |Amyotrophic lateral sclerosis ?|Amyotrophic lateral sclerosis 4, juvenile|Ataxia with neuropathy|Ataxia with oculomotor apraxia,-	ICGC,
chr4	15705614	15705615	TG	-	intronic	BST1	unknown	deletion	-	-	-	0.0243	rs371372027	-	-	-	-	COSN28106840	-	-	-	-	hematopoietic system phenotype	Colorectal cancer, increased risk, association with	COSMIC,COSMIC,COSMIC,
chr8	93442435	93442435	C	T	intergenic	RUNX1T1,FLJ46284	unknown	SNV	-	-	-	-	rs528181810	-	0.000199681	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Intellectual disability  ,-	ICGC,
chr18	49194265	49194265	G	T	intergenic	LOC100287225,DCC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,mortality/aging	-,Altered p53 transactivation|Colorectal cancer, risk, association with |Mirror movements, congenital	ICGC,
chr17	18874891	18874891	T	C	exonic	FAM83G	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM4793423	-	LICA-FR|1|252|0.00397	-	-	hematopoietic system phenotype	-	COSMIC,ICGC,
chr16	67904812	67904812	G	A	exonic	NUTF2	nonsynonymous	SNV	0.002	0.242	-	-	-	-	-	-	-	COSM4061995	STAD|1|395|0.00253,STES|1|395|0.00253	STAD-US|1|289|0.00346	-	-	-	-	COSMIC,TCGA,ICGC,
chr17	50297319	50297319	C	T	intergenic	CA10,C17orf112	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,-	Schizophrenia,-	ICGC,
chr19	24437189	24437189	C	T	intergenic	HAVCR1P1,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr9	137142546	137142546	C	A	intergenic	RNU6ATAC,RXRA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,integument phenotype	-,-	ICGC,
chr15	32993756	32993756	-	CTGCTCCCATC	intergenic	SCG5,GREM1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|5|67|0.07463	-	-	integument phenotype,mortality/aging	-,Colorectal cancer, increased risk, association with|Mixed polyposis syndrome|Oligosyndactyly of the hands, Cenani-Lenz-like	ICGC,
chr3	51326272	51326272	T	C	intronic	DOCK3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9553500	-	OV-AU|1|93|0.01075	-	-	immune system phenotype	Attention deficit hyperactivity disorder	COSMIC,ICGC,
chr2	158336646	158336646	C	T	intergenic	CYTIP,ACVR1C	unknown	SNV	-	-	-	0.0272	rs78394024	-	0.0359425	-	0.029	COSN1801206	-	LIRI-JP|1|258|0.00388	-	-	hematopoietic system phenotype,mortality/aging	-,Glaucoma, primary congenital	COSMIC,ICGC,
chr9	35739114	35739114	-	GC	intronic	GBA2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	reproductive system phenotype	Spastic paraplegia 46|Potential protein deficiency|Cerebellar ataxia with spasticity	ICGC,
chr2	168143157	168143157	G	T	intergenic	XIRP2,B3GALT1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24464923	-	GACA-CN|1|123|0.00813	-	-	integument phenotype,-	Schizophrenia,-	COSMIC,ICGC,
chr6	124228559	124228559	T	C	intronic	NKAIN2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-	Developmental delay and recurrent infection|Various neurological abnormalities	ICGC,
chr4	89199227	89199227	C	T	intronic	PPM1K	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging	Tetralogy of Fallot|Maple syrup urine disease	ICGC,
chr15	89261607	89261607	G	T	intergenic	ISG20,ACAN	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17260825	-	PACA-CA|1|268|0.00373	-	-	-,mortality/aging	-,Spondyloepiphyseal dysplasia, Kimberley type|Spondyloepimetaphyseal dysplasia  |Osteochondritis dissecans, dominant familial|Osteoarthritis, association with|Intervertebral disc degeneration, association with|Alzheimer disease, late-onset, association with	COSMIC,ICGC,
chrX	98346666	98346666	G	A	intergenic	DIAPH2,XRCC6P5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	cardiovascular system phenotype,-	Premature ovarian failure,-	ICGC,
chrX	94053596	94053596	C	T	intergenic	FAM133A,LOC643486	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1393596	-	LINC-JP|1|394|0.00254	-	-	-,-	-,-	COSMIC,ICGC,
chr8	113955221	113955221	T	A	intronic	CSMD3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19471592	-	-	-	-	-	Schizophrenia  |Colorectal cancer 	COSMIC,
chr9	1215712	1215712	C	T	intergenic	DMRT2,SMARCA2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,integument phenotype	-,Short stature|Schizophrenia, association with   |Nicholaides-Baraitser syndrome|Multiple congenital anomalies  |Lung cancer, association with|Intellectual disabilty, short stature and dysmorphisms|Hepatocellular carcinoma, in smokers, association with.|Hepatocellular carcinoma, association with.|Developmental delay & dysmorphic features|Developmental delay & autistic features|Developmental delay  |Coffin-Siris syndrome	ICGC,
chr6	75558219	75558219	C	G	intergenic	LOC101928516,COL12A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Bethlem-like myopathy|Joint hypermobility syndrome with myopathy|Lung cancer, susceptibility to, association with	ICGC,
chr19	22442147	22442147	G	A	intergenic	ZNF676,ZNF729	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	99506760	99506760	C	A	intronic	TSPAN5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-	-	ICGC,
chr1	28315148	28315148	G	C	exonic	EYA3	nonsynonymous	SNV	0.008	0.987	-	-	-	-	-	-	-	COSM70665	OV|1|469|0.00213	-	-	-	vision/eye phenotype	-	COSMIC,TCGA,
chr16	49085432	49085432	A	C	intergenic	N4BP1,CBLN1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21924768	-	BRCA-EU|1|569|0.00176	-	-	no phenotypic analysis,behavior/neurological phenotype	-,-	COSMIC,ICGC,
chr5	178703436	178703436	C	T	intronic	ADAMTS2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN18899076	-	-	-	-	integument phenotype	Ehlers-Danlos syndrome VIIc	COSMIC,
chrX	100667706	100667706	G	C	exonic	HNRNPH2	nonsynonymous	SNV	0.007	0.954	-	-	-	-	-	-	-	COSM3722079	-	-	-	-	-	-	COSMIC,
chr16	87851565	87851565	C	T	intergenic	LOC102724467,SLC7A5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,mortality/aging	-,Phenylketonuria modifier 	ICGC,
chr2	23207679	23207679	G	T	intergenic	LOC102723362,KLHL29	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27718498	-	NKTL-SG|1|50|0.02000	-	-	-,-	-,-	COSMIC,ICGC,
chr8	85847229	85847229	G	A	intergenic	RALYL,LRRCC1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,-	-,-	ICGC,
chr14	96263193	96263193	G	A	intergenic	TCL1A,TUNAR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	reproductive system phenotype,-	-,-	ICGC,
chr1	237600582	237600582	G	A	intronic	RYR2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Long QT syndrome|Sudden cardiac death|Sudden cardiac death.|Sudden infant death syndrome|Sudden unexplained death  |Ventricular arrhythmia, in chronic heart failure, association with.|Ventricular tachycardia, polymorphic|Left ventricular noncompaction  |Left ventricular non-compaction.|Catecholaminergic polymorphic ventricular tachycardia.|Catecholaminergic polymorphic ventricular tachycardia|Cardiac arrhythmia|Arrhythmogenic right ventricular dysplasia/cardiomyopathy|Arrhythmogenic right ventricular dysplasia type 2|Arrhythmogenic right ventricular cardiomyopathy, association with|Arrhythmogenic right ventricular cardiomyopathy|Altered channel function	ICGC,
chr6	18329451	18329451	-	AT	intergenic	DEK,RNF144B	unknown	insertion	-	-	-	-	rs35134171	-	-	-	-	COSN23513652	-	-	-	-	homeostasis/metabolism phenotype,-	-,-	COSMIC,
chr7	28413849	28413849	G	T	intronic	CREB5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	integument phenotype	-	ICGC,
chr14	38654663	38654663	G	A	intergenic	FOXA1,SSTR1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	integument phenotype,vision/eye phenotype	Impaired glucose homeostasis ,-	ICGC,
chr10	80405210	80405210	G	A	intergenic	LINC00595,ZMIZ1-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	49493107	49493107	A	T	intergenic	CWH43,NONE	unknown	SNV	-	-	-	0.0003	rs3001517	-	-	-	-	COSN20438251	-	COCA-CN|1|321|0.00312	-	-	-,-	-,-	COSMIC,ICGC,
chr7	98175688	98175688	G	A	intergenic	BAIAP2L1,NPTX2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,vision/eye phenotype	-,-	ICGC,
chr9	74314380	74314380	-	A	intronic	TMEM2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	Hepatitis B, chronic, association with	ICGC,
chr13	112057854	112057854	C	A	intergenic	TEX29,LINC00354	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	-,-	-,-	ICGC,
chr16	4147370	4147370	G	A	intronic	ADCY9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	immune system phenotype	Lower activity|Potential protein deficiency|Schizophrenia  |Severe malaria, protection against	ICGC,
chr2	17320295	17320295	C	T	intergenic	FAM49A,RAD51AP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr9	112963360	112963360	G	A	exonic	C9orf152	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM3652789	SKCM|3|368|0.00815	SKCM-US|2|335|0.00597	-	-	-	-	COSMIC,COSMIC,TCGA,ICGC,
chr15	95396131	95396131	C	T	intergenic	MCTP2,LOC440311	unknown	SNV	-	-	-	3.233e-05	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	Coarctation of the aorta |Coarctation of the aorta and hypoplastic left heart syndrome ,-	ICGC,
chrX	101082385	101082385	G	A	intergenic	ARMCX2,NXF5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Focal segmental glomerulosclerosis with progressive heart block|Mental retardation, X-linked|Potential protein deficiency	ICGC,
chr7	135013778	135013778	A	G	intergenic	STRA8,CNOT4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	reproductive system phenotype,-	-,Autism	ICGC,
chr14	41767789	41767789	G	A	intergenic	LOC644919,LRFN5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Short stature|Developmental delay, seizures & learning problems 	ICGC,
chr6	109300164	109300164	C	G	intergenic	ARMC2,SESN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr3	173770317	173770317	T	C	intronic	NLGN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Microcephaly, seizure disorder & intellectual disability |Autism spectrum disorder  |Autism|Anorectal malformation	ICGC,
chr7	34610308	34610308	G	A	ncRNA_intronic	NPSR1-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr1	85281573	85281573	C	T	intronic	LPAR3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	reproductive system phenotype	Schizophrenia	ICGC,
chr13	88180542	88180542	A	C	ncRNA_intronic	MIR4500HG	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17699629	-	ESAD-UK|2|301|0.00664	-	-	-	-	COSMIC,ICGC,
chr16	10392284	10392284	T	G	intergenic	GRIN2A,ATF7IP2	unknown	SNV	-	-	-	-	rs182576892	-	0.000199681	-	-	-	-	MALY-DE|1|241|0.00415	-	-	integument phenotype,-	Intellectual disability  |Landau-Kleffner syndrome|Landau-Kleffner syndrome, atypical rolandic epilepsy, dysphasia, CSWS syndrome|Landau-Kleffner syndrome, verbal dyspraxia|Landau-Kleffner syndrome/benign epilepsy with centrotemporal spikes/atypical benign partial epilepsy|Mental retardation with abnormal EEG|Partial epilepsy, atypical benign|Rolandic epilepsy |Schizophrenia|Schizophrenia, chronic outcome, association with|Seizure disorders of rolandic region & intellectual disability|Increased hippocampal and amygdala volumes, association with|Epileptic encephalopathy, verbal dyspraxia|Epileptic encephalopathy, benign childhood epilepsy|Alcohol dependence, association with|Atypical rolandic epilepsy, absence epilepsy|Atypical rolandic epilepsy, verbal dyspraxia|Benign epilepsy with centrotemporal spikes|Epilepsy with cognitive impairment|Epilepsy-aphasia syndrome|Epilepsy, childhood-onset|Epileptic encephalopathy|Epileptic encephalopathy, abnormal EEG & developmental delay|Epileptic encephalopathy, atypical rolandic epilepsy, dysphasia|Epileptic encephalopathy, atypical rolandic epilepsy, verbal dyspraxia,-	ICGC,
chr14	74793488	74793488	C	T	intergenic	ABCD4,VRTN	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Inborn error of vitamin B12 metabolism,-	ICGC,
chr13	32740720	32740720	A	T	intronic	FRY	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	Intellectual disability  |Schizophrenia  	ICGC,
chr9	37028303	37028303	G	A	intronic	PAX5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	mortality/aging	Acute lymphoblastic leukaemia|Autism|Schizophrenia	ICGC,
chr2	33791652	33791652	G	A	intergenic	RASGRP3,FAM98A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BOCA-UK|1|130|0.00769,MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype,-	Systemic lupus erythematosus, association with,-	ICGC,
chr14	28397651	28397651	G	T	intergenic	LINC00645,FOXG1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25818480	-	EOPC-DE|1|202|0.00495	-	-	-,integument phenotype	-,West syndrome |Rett-like syndrome|Rett syndrome|Refractory epilepsy & intellectual impairment|Microcephaly, mental retardation & thin genu of corpus callosum|Mental retardation, speech impairment & epilepsy|Mental retardation & speech impairment|Mental retardation & postnatal microcephaly|Mental retardation & callosum abnormalities|Mental retardation|Infantile spasms|Hemifacial microsomia|Generalized dystonia, athetosis and parkinsonism|Developmental delay, microcephaly & hypoplasia of the corpus callosum|Developmental delay, hypotonia, microcephaly & infantile spasms|Developmental delay & slow head growth|Agenesis of corpus callosum	COSMIC,ICGC,
chr9	87102299	87102299	G	A	intergenic	SLC28A3,NTRK2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	Reduced sodium-binding capacity,Anxiety-related traits, association with|Obesity, hyperphagia, and developmental delay	ICGC,
chr3	122181217	122181217	A	G	intronic	KPNA1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Potential protein deficiency	ICGC,
chr22	35602193	35602193	C	A	intergenic	ISX,HMGXB4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1261283	-	-	-	-	no phenotypic analysis,-	-,-	COSMIC,
chr11	73653048	73653048	T	C	intergenic	PAAF1,DNAJB13	unknown	SNV	-	-	-	0.0513	rs35876082	-	0.0519169	-	0.051	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr20	14917211	14917211	T	C	intronic	MACROD2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Kabuki syndrome|Attention deficit hyperactivity disorder 	ICGC,
chr12	106809338	106809338	A	-	intronic	POLR3B	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	RECA-EU|1|422|0.00237	-	-	-	Hypomyelinating leukodystrophy|Hypomyelination, cerebellar atrophy & corpus callosum hypoplasia|Intellectual disability  	ICGC,
chr10	73817935	73817935	G	A	downstream	SPOCK2	unknown	SNV	-	-	-	3.24e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr8	101961004	101961004	A	C	exonic	YWHAZ	nonsynonymous	SNV	0.013	0.152	-	-	-	-	-	-	-	COSM6571773	-	-	-	-	-	Schizophrenia	COSMIC,
chr2	141990113	141990113	G	T	intronic	LRP1B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN28030620	-	PRAD-CA|1|308|0.00325	-	-	mortality/aging	Schizophrenia   	COSMIC,ICGC,
chrX	21414358	21414358	C	T	intronic	CNKSR2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Intellectual disability, X-linked non-syndromic	ICGC,
chr4	16238107	16238107	G	A	ncRNA_intronic	TAPT1-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-	-	ICGC,
chr6	31943364	31943364	G	A	intronic	STK19	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	Potential protein deficiency	ICGC,
chr17	53984571	53984571	A	C	intergenic	PCTP,ANKFN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	immune system phenotype,-	-,-	ICGC,
chr17	42610743	42610743	C	A	intergenic	GPATCH8,FZD2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BOCA-UK|1|130|0.00769	-	-	-,mortality/aging	Hypouricaemia, juvenile-onset,-	ICGC,
chrX	11809192	11809192	G	A	intergenic	MSL3,FRMPD4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Mental retardation, X-linked	ICGC,
chr5	83862078	83862078	C	G	intergenic	EDIL3,NBPF22P	unknown	SNV	-	-	-	3.231e-05	-	-	-	-	-	-	-	UTCA-FR|1|20|0.05000	-	-	immune system phenotype,-	Schizophrenia  ,-	ICGC,
chr21	25003246	25003246	-	G	intergenic	D21S2088E,LOC101927869	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	-,-	-,-	ICGC,
chr10	50820044	50820044	G	A	exonic	SLC18A3	nonsynonymous	SNV	0.251	0.784	4.074e-06	-	-	-	-	-	-	-	COAD|1|367|0.00272,COADREAD|1|489|0.00204	COAD-US|1|254|0.00394	-	-	mortality/aging	-	TCGA,ICGC,
chr20	3782015	3782015	A	T	exonic	CDC25B	nonsynonymous	SNV	0.007	0.998	-	-	-	-	-	-	-	COSM4455570	-	-	-	-	mortality/aging	-	COSMIC,COSMIC,
chr1	9556148	9556148	C	T	intergenic	LOC100506022,SLC25A33	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	-,-	-,-	ICGC,
chrX	132017897	132017897	G	A	intronic	HS6ST2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	cellular phenotype	-	ICGC,
chr17	76227040	76227040	C	A	upstream	TMEM235	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24149774	-	BRCA-FR|1|72|0.01389	-	-	-	-	COSMIC,ICGC,
chr5	175851625	175851625	T	G	intergenic	CLTB,FAF2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17459167	-	SKCA-BR|1|100|0.01000	-	-	-,no phenotypic analysis	-,-	COSMIC,ICGC,
chr4	153395055	153395055	C	A	intronic	FBXW7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	integument phenotype	Renal cell cancer	ICGC,
chr14	93942564	93942564	T	C	intronic	UNC79	unknown	SNV	-	-	-	-	rs780537998	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	-	ICGC,
chr1	145203260	145203260	G	C	intronic	NBPF20,NBPF9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	OV-AU|1|93|0.01075	-	-	-,-	-,Potential protein deficiency	ICGC,
chr2	126505095	126505095	G	A	intergenic	CNTNAP5,GYPC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	Autism,Glycophorin C variant|Gerbich-negative blood group|Elliptocytosis|Duch blood group	ICGC,
chr12	127992263	127992263	T	C	intergenic	LOC101927616,LOC101927637	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	ICGC,
chr7	123095849	123095849	G	A	intronic	IQUB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr3	173970177	173970177	A	G	intronic	NLGN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	OV-AU|1|93|0.01075	-	-	mortality/aging	Microcephaly, seizure disorder & intellectual disability |Autism spectrum disorder  |Autism|Anorectal malformation	ICGC,
chr19	1863134	1863134	G	T	exonic	KLF16	synonymous	SNV	-	-	-	3.77e-05	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr5	106450511	106450511	G	A	intergenic	LOC102467213,EFNA5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,-	ICGC,
chr2	238197792	238197792	A	G	intergenic	COPS8,COL6A3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1832530	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging,-	-,Ullrich congenital muscular dystrophy, intermediate|Ullrich congenital muscular dystrophy|Potential protein deficiency|Myopathy  |Muscular dystrophy  |Collagen VI myopathy|Collagen VI deficiency|Bethlem myopathy|Atrioventricular septal defect, Down-syndrome-associated|Atrioventricular septal defect, Down-syndrome associated	COSMIC,ICGC,
chr8	88152293	88152293	T	C	intronic	CNBD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-	-	ICGC,
chr10	38425681	38425681	T	C	intergenic	ZNF37A,LOC100129055	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr20	4438328	4438328	C	T	intergenic	ADRA1D,PRNP	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	behavior/neurological phenotype,mortality/aging	-,Pan-autonomic failure, sensory neuropathy & cognitive impairment|Leg hyperreflexia in Gerstmann-Sträussler-Scheinker syndrome|Gerstmann-Sträussler-Scheinker syndrome.|Gerstmann-Sträussler-Scheinker syndrome and Creutzfeldt-Jakob disease, rapidly progressive.|Gerstmann-Sträussler-Scheinker syndrome  presenting as familial Creutzfeldt-Jakob disease|Gerstmann-Straeussler-Scheinker syndrome|Gerstmann-Straeussler syndrome, association with|Gerstmann-Straeussler syndrome|Parkinson disease  |Presenile dementia and hypokinetic syndrome|Wilson disease, neurological, modifier of|Spongiform encephalopathy, familial|Schizoaffective disorder|PrP cerebral amyloid angiopathy|Progressive ataxo-spastic syndrome with mild cognitive impairment|Prion disease, resistance to, association with|Prion disease|Primary dementia with prominent frontotemporal signs|Gastric cancer|Fatal insomnia|Creutzfeldt-Jakob syndrome|Creutzfeldt-Jakob disease, slowly progressive.|Creutzfeldt-Jakob disease, rapidly progressive.|Creutzfeldt-Jakob disease, rapidly progressive, and Creutzfeldt-Jakob disease, slowly progressive.|Creutzfeldt-Jakob disease risk, association with|Atypical parkinsonism.|Alzheimer disease risk|Alzheimer disease|Creutzfeldt-Jakob syndrome, protection, association with|Creutzfeldt-Jakob syndrome, sporadic, association|Fatal familial insomnia, association with|Fatal familial insomnia|Encephalopathy, familial|Diarrhoea, autonomic failure & neuropathy|Dementia, young-onset|Dementia, neurodegenerative|Dementia|Creutzfeldt-Jakob syndrome.	ICGC,
chr13	106478667	106478667	G	A	intergenic	LINC00343,LINC00460	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	107687764	107687764	A	G	intronic	FBXL17	unknown	SNV	-	-	-	0.2133	rs10075370	-	0.157348	-	0.261	COSN14849982	-	-	-	-	-	-	COSMIC,
chr5	29623651	29623651	G	A	intergenic	LOC101929681,CDH6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,renal/urinary system phenotype	-,-	ICGC,
chr18	44167609	44167609	C	A	intronic	LOXHD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	behavior/neurological phenotype	Sensorineural hearing loss, nonsyndromic  |Progressive hearing loss, nonsyndromic|Hearing loss, non-syndromic, autosomal recessive|Fuchs corneal dystrophy, late-onset 	ICGC,
chr8	80927731	80927731	-	A	intronic	MRPS28	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN28008445	-	PRAD-CA|1|308|0.00325	-	-	-	-	COSMIC,ICGC,
chr18	42067310	42067310	G	A	ncRNA_intronic	LOC101927921	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chrY	15055415	15055415	C	T	intergenic	DDX3Y,UTY	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Infertility, idiopathic,-	ICGC,
chr11	99926189	99926189	C	T	intronic	CNTN5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	-	ICGC,
chr3	82214617	82214617	A	G	intergenic	GBE1,NONE	unknown	SNV	-	-	-	0.2735	rs1534322	-	0.240615	-	0.261	-	-	ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488	-	-	mortality/aging,-	Potential protein deficiency|Polyglucosan body disease, relapsing-remitting form|Polyglucosan body disease, adult|Lethal multiple pterygium syndrome|Glycogen storage disease 4, non-lethal neuromuscular|Glycogen storage disease 4, neonatal|Glycogen storage disease 4|Autism spectrum disorder|Adult polyglucosan body disease,-	ICGC,
chr18	45985541	45985541	-	CTGTGTCTAACACAGCATC	intergenic	ZBTB7C,CTIF	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|2|67|0.02985	-	-	cellular phenotype,-	-,-	ICGC,
chr18	50376887	50376887	C	T	intronic	DCC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Altered p53 transactivation|Colorectal cancer, risk, association with |Mirror movements, congenital	ICGC,
chr11	91902247	91902247	C	T	intergenic	DISC1FP1,FAT3	unknown	SNV	-	-	-	-	rs777091119	-	-	-	-	-	-	PBCA-US|1|186|0.00538,MELA-AU|1|183|0.00546	-	-	-,vision/eye phenotype	-,Autism spectrum disorder	ICGC,
chr11	63528139	63528139	G	T	UTR3	C11orf95	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr1	65325844	65325844	G	T	exonic	JAK1	nonsynonymous	SNV	1.0	0.225	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	mortality/aging	-	ICGC,
chr9	94606256	94606256	C	G	intronic	ROR2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	mortality/aging	Robinow syndrome, recessive with brachydactyly type B|Robinow syndrome, autosomal recessive|Robinow syndrome|Brachydactyly, type B	ICGC,
chr5	25703995	25703995	C	T	intergenic	LOC340107,CDH9	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6290295	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr4	130658952	130658952	C	T	ncRNA_intronic	LOC101927282	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr10	99153076	99153076	A	G	intronic	RRP12	unknown	SNV	-	-	-	0.3747	rs10786339	-	0.405152	-	0.304	-	-	LAML-KR|1|205|0.00488	-	-	-	-	ICGC,
chr3	6572430	6572430	T	A	intergenic	MIR4790,LOC101927347	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr11	67336424	67336424	A	T	intergenic	CABP2,GSTP1	unknown	SNV	-	-	-	0.3982	rs11227837	-	0.421326	-	0.283	-	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	Hearing impairment, autosomal recessive ,Lung cancer, increased risk in non-smokers, association with|Malignant melanoma, association with.|Myelodyplastic syndromes, increased risk, association with|Oral cancer in light smokers, association with|Oral cancer, association with|Orofaciolingual tardive dyskinesia, reduced risk, association|Parkinsons disease, association with|Plasmodium vivax malaria, susceptibility, association with|Thyroid cancer, increased risk|Tumour development, increased risk|Lung cancer, in men, association with|Lung cancer, association with.|Altered toluene di-isocyanate metabolism|Asthma, reduced risk|Atopic dermatitis, association with|Breast cancer, increased risk|Breast cancer, reduced risk|Cancer, association with.|Epithelial ovarian cancer, association with|Head and neck cancer|Increased activity|Liver cirrhosis, reduced survival rate, association with	ICGC,
chr4	138210077	138210077	C	A	intergenic	LINC00613,PCDH18	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7775863	-	PACA-CA|1|268|0.00373	-	-	-,-	-,Intellectual disability  	COSMIC,ICGC,
chr2	40435709	40435709	A	T	ncRNA_intronic	SLC8A1-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-	-	ICGC,
chr1	6503992	6503992	G	A	intronic	ESPN	unknown	SNV	-	-	-	-	rs778841949	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	immune system phenotype	Deafness and vestibular areflexia|Hearing loss, autosomal dominant|Hearing loss, non-syndromic|Schizophrenia	ICGC,
chr4	158711220	158711220	T	C	intergenic	LOC340017,FAM198B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22232371	-	BRCA-EU|1|569|0.00176,MALY-DE|1|241|0.00415	-	-	-,-	-,-	COSMIC,ICGC,
chr14	101210883	101210883	C	T	intergenic	DLK1,MIR2392	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5380549	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging,-	-,-	COSMIC,ICGC,
chr5	40120818	40120818	C	T	intergenic	LINC00603,PTGER4	unknown	SNV	-	-	-	9.695e-05	rs777638864	-	-	-	-	COSN24124345	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	-,integument phenotype	-,Crohn's disease, association with 	COSMIC,COSMIC,ICGC,
chr18	40524590	40524590	C	T	intronic	RIT2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|3|183|0.01639	-	-	-	-	ICGC,
chr12	44007611	44007611	C	T	intergenic	ADAMTS20,PUS7L	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	integument phenotype,immune system phenotype	-,-	ICGC,
chr9	13729780	13729780	G	T	intergenic	FLJ41200,LINC00583	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8296411	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	COSMIC,ICGC,
chr7	3377229	3377229	G	C	intronic	SDK1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr4	139605226	139605226	G	A	intergenic	LINC00499,CCRN4L	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,growth/size phenotype	-,-	ICGC,
chr3	72515263	72515263	A	G	intergenic	RYBP,SHQ1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	-,-	ICGC,
chr12	73851002	73851002	-	TAAATATA	intergenic	LOC101928137,LOC100507377	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr9	82636056	82636056	G	A	ncRNA_intronic	LOC101927477	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr6	104830833	104830833	A	G	intergenic	NONE,HACE1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,tumorigenesis	-,Wilms tumour 	ICGC,
chr5	39865858	39865858	G	A	intergenic	LOC101926940,LINC00603	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,-	-,-	ICGC,
chrX	19363864	19363865	CC	-	intronic	PDHA1	unknown	deletion	-	-	0.1277	0.0864	rs764818501	0.1704	-	-	-	-	-	THCA-SA|1|142|0.00704	-	-	mortality/aging	Pyruvate dehydrogenase deficiency|Leigh syndrome|Lactic acidosis|Intellectual disability|Cognitively normal adult with PDH deficiency	ICGC,
chr9	135216668	135216668	T	C	intronic	SETX	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5119694	-	LINC-JP|1|394|0.00254	-	-	-	Cerebellar ataxia/tremor syndrome |Cervical dystonia, primary.|Childhood apraxia of speech ?|Chorea and motor neuron disease|Spinal muscular atrophy |Ataxia-ocular apraxia 2, atypical|Ataxia-ocular apraxia 2|Amyotrophic lateral sclerosis   |Amyotrophic lateral sclerosis ?|Amyotrophic lateral sclerosis 4, juvenile|Ataxia with neuropathy|Ataxia with oculomotor apraxia	COSMIC,ICGC,
chr5	28304342	28304342	G	T	intergenic	LINC01021,LSP1P3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	ICGC,
chr10	12071338	12071338	T	A	exonic	UPF2	nonsynonymous	SNV	0.068	0.991	-	-	-	-	-	-	-	-	-	LINC-JP|1|394|0.00254	-	-	mortality/aging	Intellectual disability  |Schizophrenia  	ICGC,
chr9	31843991	31843991	A	C	intergenic	LINC01242,ACO1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7566518	-	PACA-AU|1|391|0.00256	-	-	-,mortality/aging	-,Schizophrenia	COSMIC,ICGC,
chr16	46534730	46534730	C	T	ncRNA_exonic	ANKRD26P1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-	-	ICGC,
chr8	14017547	14017547	G	A	intronic	SGCZ	unknown	SNV	-	-	-	0.3411	rs7841810	-	0.298722	-	0.428	-	-	LAML-KR|1|205|0.00488	-	-	-	Cervical artery dissection	ICGC,
chr5	176515201	176515201	C	T	intronic	FGFR4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Poor cancer survival, association with|Prolonged survival, in advanced ovarian cancer, association with.|Prostate cancer occurrence|Prostate cancer, increased risk|Protective factor against coronary artery disease, association with|Nodal metastasis in oral squamous cell carcinoma, assoc. with|Lung cancer onset, association with|Hepatocellular carcinoma, protection against, association with|Gallstone disease severity, association with|Cushing's disease recurrence, association with|Cushing disease, modifier of|Coronary artery disease, association with|Cancer, accelerated progression, association with	ICGC,
chr15	34174371	34174371	C	A	intronic	AVEN	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	cellular phenotype	-	ICGC,
chr11	12502974	12502974	-	T	intronic	PARVA	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	mortality/aging	-	ICGC,
chr15	36583914	36583914	A	G	intergenic	MIR4510,C15orf41	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Congenital dysorythropoietic anaemia type 1	ICGC,
chr11	63266128	63266128	G	A	ncRNA_intronic	MIR3680-1,MIR3680-2	unknown	SNV	-	-	-	0.0030	rs184579868	-	0.00299521	-	0.007	COSN8687393	-	OV-AU|1|93|0.01075	-	-	-,-	-,-	COSMIC,ICGC,
chr15	50521783	50521783	C	T	intronic	SLC27A2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	cellular phenotype	-	ICGC,
chr12	38643952	38643952	C	T	intergenic	NONE,ALG10B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Acquired long QT syndrome, protection against, association|Acquired long QT syndrome	ICGC,
chr10	9123222	9123222	C	T	intergenic	LINC00708,LOC101928272	unknown	SNV	-	-	-	-	rs56310765	-	-	-	-	-	-	SKCA-BR|2|100|0.02000	-	-	-,-	-,-	ICGC,
chr2	230356224	230356224	C	A	intronic	DNER	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20206231	-	PACA-CA|1|268|0.00373	-	-	behavior/neurological phenotype	-	COSMIC,ICGC,
chr6	148162658	148162658	T	G	intergenic	SAMD5,SASH1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr21	23758670	23758670	-	A	intergenic	LINC00308,D21S2088E	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN14676719	-	-	-	-	-,-	-,-	COSMIC,
chr18	65219430	65219430	T	G	ncRNA_intronic	LOC643542	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr9	130864354	130864354	G	T	intronic	SLC25A25	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	mortality/aging	-	ICGC,
chr3	166309936	166309936	C	T	intergenic	BCHE,ZBBX	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Serum cholinesterase deficiency|Potential protein deficiency|Obesity and triglyceride levels, association with|Hypocholinesterasaemia|Fronto-temporal dementia, association with|Cholinesterasaemia|Butyrylcholinesterase variant|Butyrylcholinesterase deficiency|Addiction to crack cocaine, association with|Acholinesterasaemia,-	ICGC,
chr12	88888704	88888704	G	A	UTR3	KITLG	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype	Progressive hyperpigmentation|Progressive hyper- and hypopigmentation|Cancer, susceptibility to	ICGC,
chr5	11131834	11131834	G	A	intronic	CTNND2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	Schizophrenia  |Lennox-Gastaut syndrome |Autism spectrum disorder|Anorectal malformation|Altered localisation	ICGC,
chr13	62751117	62751117	C	A	intergenic	LINC00358,LINC00448	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr7	70611601	70611601	G	A	intronic	WBSCR17	unknown	SNV	-	-	-	-	rs753582999	-	-	-	-	COSN16134995	-	ESAD-UK|1|301|0.00332	-	-	-	-	COSMIC,ICGC,
chr6	145865155	145865157	AGA	-	intergenic	UTRN,EPM2A	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	PAEN-AU|1|52|0.01923	-	-	mortality/aging,mortality/aging	Arthrogryposis |Schizophrenia,Myoclonic epilepsy of Lafora|Epilepsy, progressive myoclonus	ICGC,
chr3	29772918	29772918	C	T	intronic	RBMS3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr4	166513537	166513537	A	G	intergenic	CPE,LINC01179	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Diabetes mellitus 2, early onset, association with,-	ICGC,
chr10	114450512	114450512	G	T	intronic	VTI1A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	mortality/aging	-	ICGC,
chr5	94413054	94413054	T	A	intronic	MCTP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr18	38206579	38206579	C	A	intergenic	LOC101927900,KC6	unknown	SNV	-	-	-	0.0296	rs9304227	-	-	-	-	COSN17992654	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	COSMIC,ICGC,
chr19	1460543	1460543	C	T	intronic	APC2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	reproductive system phenotype	-	ICGC,
chr5	141017605	141017605	A	C	UTR5	RELL2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17519158	-	ESAD-UK|1|301|0.00332	-	-	-	-	COSMIC,ICGC,
chrX	65503766	65503766	G	T	intergenic	HEPH,EDA2R	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	hematopoietic system phenotype,normal phenotype	-,Hypohidrotic ectodermal dysplasia|Mental retardation, X-linked 	ICGC,
chr8	27452085	27452085	C	T	intergenic	EPHX2,CLU	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	cardiovascular system phenotype,other phenotype	Vasodilator response to bradykinin, association with|Neuronal survival after injury, association with|Ischaemic stroke, reduced risk, association with|Ischaemic stroke in males, increased risk, association|Increased enzyme activity|IgA nephropathy, proggression, association with|Decreased enzyme activity|Coronary heart disease, in Caucasians, association with|Coronary artery calcification, in African Americans, association with,Reduced white matter integrity, association with|Preeclampsia and essential hypertension, association with |Higher total cholesterol levels, association with|Haemolytic uraemic syndrome|Deafness  |Coronary artery disease risk, association with|Cognitive function in the oldest old, association with|Clusterin deficiency|Alzheimer disease, association with|Alzheimer disease|Altered hippocampal function, association with	ICGC,
chrY	5496891	5496891	G	A	intronic	PCDH11Y	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chrX	83930757	83930757	C	T	intergenic	HDX,UBE2DNL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	normal phenotype,-	Premature ovarian failure |Mental retardation, X-linked,-	ICGC,
chr2	37389584	37389584	C	T	intergenic	EIF2AK2,SULT6B1	unknown	SNV	-	-	-	0.0734	-	-	-	-	-	COSN16596883	-	-	-	-	mortality/aging,-	-,-	COSMIC,
chr3	143360623	143360623	C	A	intronic	SLC9A9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	Attention deficit hyperactivity disorder|Autism |Autism spectrum disorder  	ICGC,
chr2	50619408	50619408	C	T	intronic	NRXN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Hypotonia|Hypotonia & encephalopathy|Increased white matter volume, association with|Intellectual disability  |Intellectual disability & attention deficit hyperactivity disorder|Intellectual disability & hearing loss|Intellectual disability & pervasive developmental disorder|Intellectual disability and autism|Intellectual disability, nonsyndromic |Intellectual disability, seizures, dysmorphisms & language delay|Growth retardation  |Epilepsy, myoclonic seizures & speech delay|Developmental disorder|Developmental disorder & attention deficit hyperactivity disorder|Developmental disorder, seizures & attention deficit hyperactivity disorder|Developmental/intellectual disability, hypotonia & dysmorphic features|Disorder of muscle, ligament & fascia|Encephalopathy  |Epilepsy  |Epilepsy with cognitive impairment / autism spectrum disorder|Epilepsy with focal seizures|Epilepsy, generalised |Intellectual disability, seizures, language delay & hypotonia|Language delay|Learning difficulties|Respiratory distress & sepsis|Respiratory distress syndrome|Schizophrenia |Schizophrenia, childhood onset |Schizophrenia, disorganised type|Seizures, generalized tonic-clonic & attention deficit hyperactivity disorder|Sensory integration disorder & attention deficit hyperactivity disorder|Speech delay & social communication difficulties|Tourette syndrome|Pervasive developmental disorder / hypotonia|Pervasive developmental disorder|Pervasive developmental delay / mental retardation, lack of coordination & hearing loss|Learning difficulties, ADHD & autism|Mental retardation|Mental retardation, autism, vertebral malformations|Mental retardation, Pitt-Hopkins-like|Microcephaly & mental retardation|Multiple congenital anomalies  |Multiple disabilities|Myoclonic epilepsy   |Neurodevelopmental disorder  |Vertebral anomalies|Developmental delay, speech delay & social communication difficulties|Attention deficit hyperactivity disorder |Autism spectrum disorder, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability & language delay|Autism spectrum disorder, intellectual disability, dysmorphisms, developmental delay & language delay|Autism spectrum disorder, intellectual disability, seizures & developmental delay|Autism spectrum disorder, intellectual disability, seizures, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability, seizures, dysmorphisms & language delay|Autism spectrum disorder, seizures, developmental delay & language delay|Autism, intellectual disability & attention deficit hyperactivity disorder|Autistic disorder|Autism spectrum disorder with developmental & speech delay|Autism spectrum disorder & seizures|Autism spectrum disorder & language delay|Autism |Autism & learning difficulties|Autism & mental retardation|Autism & seizures|Autism spectrum disorder|Autism spectrum disorder & attention deficit hyperactivity disorder|Autism spectrum disorder & developmental delay|Autism spectrum disorder & dysmorphic features|Autism spectrum disorder & intellectual disability|Behavioural problems|Congenital heart defect  |Craniofacial dysmorphism|Developmental delay & speech/motor delay|Developmental delay with early-onset epilepsy|Developmental delay, dysmorphic features & short stature|Developmental delay, epilepsy, autism|Developmental delay, language delay & hypotonia|Developmental delay, learning difficulties, ADHD|Developmental delay, microcephaly & behavioural problems|Developmental delay, pulmonic stenosis & autism spectrum disorder|Developmental delay, short stature and diaphragmatic hernia|Developmental delay, speech delay & microcephaly|Developmental delay & seizures|Developmental delay & seizure disorder|Cystic hygroma, hydrops & micrognathia|Cystic hygroma, shortened upper limbs & fetal demise|Developmental & speech delay|Developmental delay|Developmental delay / autism|Developmental delay & autism|Developmental delay & dysmorphic features|Developmental delay & epilepsy|Developmental delay & hypotonia|Developmental delay & multiple congenital anomalies	ICGC,
chr4	22624399	22624399	T	A	intergenic	GPR125,GBA3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	normal phenotype,-	Retinitis pigmentosa,Cytosolic beta-glucosidase deficiency, association	ICGC,
chr7	16722452	16722452	T	A	exonic	BZW2	nonsynonymous	SNV	0.451	0.001	-	-	-	-	-	-	-	-	ESCA|1|185|0.00541	-	-	-	-	-	TCGA,
chr19	19656700	19656700	C	G	exonic	CILP2	nonsynonymous	SNV	0.038	0.61	-	-	-	-	-	-	-	COSM4437817	-	-	-	-	-	-	COSMIC,
chrX	121619998	121619998	A	C	intergenic	GLUD2,GRIA3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8163721	-	PACA-CA|1|268|0.00373	-	-	-,integument phenotype	Parkinson disease, earlier onset, association with,Mental retardation, X-linked|Intellectual disability, X-linked with facial dysmorphism|Intellectual disability, X-linked|Autism spectrum disorder	COSMIC,ICGC,
chr8	144526307	144526307	G	A	intronic	ZC3H3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	Leukemia, risk, association with 	ICGC,
chr6	91714275	91714275	C	T	intergenic	MAP3K7,MIR4643	unknown	SNV	-	-	-	3.234e-05	rs529688227	-	0.000199681	-	-	-	-	MELA-AU|2|183|0.01093	-	-	mortality/aging,-	-,-	ICGC,
chr2	104224698	104224698	G	A	intergenic	TMEM182,LOC100287010	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|3|183|0.01639	-	-	-,-	-,-	ICGC,
chr11	92540448	92540448	-	T	intronic	FAT3	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	vision/eye phenotype	Autism spectrum disorder	ICGC,
chr13	94253415	94253415	G	A	intronic	GPC6	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25341120	-	MALY-DE|1|241|0.00415	-	-	-	Omodysplasia|Pancreatic cancer 	COSMIC,ICGC,
chr15	51439042	51439042	G	A	intergenic	TNFAIP8L3,CYP19A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-,integument phenotype	-,Dyslexia, association with|Earlier age at menarche, association with|Hepatocellular carcinoma, increased risk, association with|Higher bone mass density, association with|Increased activity in tumours|Increased cortical bone mass density, association with|Oestrogen excess|Polycystic ovary syndrome, increased risk|Prostate cancer, association with|Reduced activity|Reduced promoter activity|Survival after docetaxel, association with|Disorder of sexual differentiation|Decreased sperm count in obesity, association with|Breast cancer, susceptibility, association with|Altered aromatase activity and estrogen levels in elderly men|Alzheimer disease in women, association with|Alzheimer disease in women, assoiation with|Alzheimer disease, increased risk, association with|Alzheimer's, in APOE4 carriers, increased risk, association|Aromatase deficiency|Aromatase excess syndrome|Breast cancer, reduced risk, association with|Breast cancer, increased risk, association with|Breast cancer, decreased risk, association with|Breast cancer, association with|Bone mass density, association	ICGC,
chr11	16609272	16609272	C	T	intergenic	SOX6,C11orf58	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Craniosynostosis |Developmental delay and spinal syrinx,-	ICGC,
chr10	125700182	125700182	G	A	intergenic	CPXM2,CHST15	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,hematopoietic system phenotype	Potential protein deficiency,-	ICGC,
chr9	19818690	19818690	C	T	intergenic	SLC24A2,MLLT3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	vision/eye phenotype,mortality/aging	Retinal disease,Neuromotor dev. delay, cerebellar ataxia, epilepsy	ICGC,
chr4	187858048	187858048	C	T	intergenic	FAT1,LOC339975	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype,-	Autism,-	ICGC,
chr13	59628714	59628714	G	A	intergenic	LOC101926897,DIAPH3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,Autism  |Auditory neuropathy spectrum disorder|Auditory neuropathy	ICGC,
chr13	104197906	104197906	G	A	intergenic	MIR548AS,DAOA-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	ICGC,
chr7	146667497	146667497	T	G	intronic	CNTNAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	integument phenotype	Gilles de la Tourette syndrome|Intellectual disability  |Learning disability & speech problems|Mental retardation |Mental retardation, Pitt-Hopkins-like|Multiple congenital anomalies  |Seizures, neonatal |Speech delay  |Stuttering |Epileptic encephalopathy  |Epilepsy and schizophrenia|Autism|Autism spectrum disorder |Autism spectrum disorder, modifier of|Childhood apraxia of speech|Cortical dysplasia-focal epilepsy syndrome|Developmental and/or speech and/or behavioural problems|Developmental delay  |Developmental delay & dysmorphic features|Dyslexia 	ICGC,
chr4	168171714	168171714	C	T	intergenic	SPOCK3,ANXA10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	52038063	52038063	T	C	intergenic	NRXN1,ASB3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	Hypotonia|Hypotonia & encephalopathy|Increased white matter volume, association with|Intellectual disability  |Intellectual disability & attention deficit hyperactivity disorder|Intellectual disability & hearing loss|Intellectual disability & pervasive developmental disorder|Intellectual disability and autism|Intellectual disability, nonsyndromic |Intellectual disability, seizures, dysmorphisms & language delay|Growth retardation  |Epilepsy, myoclonic seizures & speech delay|Developmental disorder|Developmental disorder & attention deficit hyperactivity disorder|Developmental disorder, seizures & attention deficit hyperactivity disorder|Developmental/intellectual disability, hypotonia & dysmorphic features|Disorder of muscle, ligament & fascia|Encephalopathy  |Epilepsy  |Epilepsy with cognitive impairment / autism spectrum disorder|Epilepsy with focal seizures|Epilepsy, generalised |Intellectual disability, seizures, language delay & hypotonia|Language delay|Learning difficulties|Respiratory distress & sepsis|Respiratory distress syndrome|Schizophrenia |Schizophrenia, childhood onset |Schizophrenia, disorganised type|Seizures, generalized tonic-clonic & attention deficit hyperactivity disorder|Sensory integration disorder & attention deficit hyperactivity disorder|Speech delay & social communication difficulties|Tourette syndrome|Pervasive developmental disorder / hypotonia|Pervasive developmental disorder|Pervasive developmental delay / mental retardation, lack of coordination & hearing loss|Learning difficulties, ADHD & autism|Mental retardation|Mental retardation, autism, vertebral malformations|Mental retardation, Pitt-Hopkins-like|Microcephaly & mental retardation|Multiple congenital anomalies  |Multiple disabilities|Myoclonic epilepsy   |Neurodevelopmental disorder  |Vertebral anomalies|Developmental delay, speech delay & social communication difficulties|Attention deficit hyperactivity disorder |Autism spectrum disorder, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability & language delay|Autism spectrum disorder, intellectual disability, dysmorphisms, developmental delay & language delay|Autism spectrum disorder, intellectual disability, seizures & developmental delay|Autism spectrum disorder, intellectual disability, seizures, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability, seizures, dysmorphisms & language delay|Autism spectrum disorder, seizures, developmental delay & language delay|Autism, intellectual disability & attention deficit hyperactivity disorder|Autistic disorder|Autism spectrum disorder with developmental & speech delay|Autism spectrum disorder & seizures|Autism spectrum disorder & language delay|Autism |Autism & learning difficulties|Autism & mental retardation|Autism & seizures|Autism spectrum disorder|Autism spectrum disorder & attention deficit hyperactivity disorder|Autism spectrum disorder & developmental delay|Autism spectrum disorder & dysmorphic features|Autism spectrum disorder & intellectual disability|Behavioural problems|Congenital heart defect  |Craniofacial dysmorphism|Developmental delay & speech/motor delay|Developmental delay with early-onset epilepsy|Developmental delay, dysmorphic features & short stature|Developmental delay, epilepsy, autism|Developmental delay, language delay & hypotonia|Developmental delay, learning difficulties, ADHD|Developmental delay, microcephaly & behavioural problems|Developmental delay, pulmonic stenosis & autism spectrum disorder|Developmental delay, short stature and diaphragmatic hernia|Developmental delay, speech delay & microcephaly|Developmental delay & seizures|Developmental delay & seizure disorder|Cystic hygroma, hydrops & micrognathia|Cystic hygroma, shortened upper limbs & fetal demise|Developmental & speech delay|Developmental delay|Developmental delay / autism|Developmental delay & autism|Developmental delay & dysmorphic features|Developmental delay & epilepsy|Developmental delay & hypotonia|Developmental delay & multiple congenital anomalies,-	ICGC,
chr1	222244692	222244692	A	-	intergenic	DUSP10,HHIPL2	unknown	deletion	-	-	-	0.0005	-	-	-	-	-	COSN27412925	-	BTCA-SG|5|71|0.07042	-	-	hematopoietic system phenotype,-	-,Potential protein deficiency	COSMIC,COSMIC,ICGC,
chr1	214875148	214875148	C	T	intergenic	CENPF,KCNK2	unknown	SNV	-	-	-	3.232e-05	-	-	-	-	-	COSN19476221	-	PBCA-DE|1|499|0.00200	-	-	-,mortality/aging	-,-	COSMIC,ICGC,
chr19	27965181	27965181	A	C	intergenic	NONE,LINC00662	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr10	4026665	4026665	T	A	intergenic	KLF6,MIR6078	unknown	SNV	-	-	-	3.241e-05	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	integument phenotype,-	Decreased promoter activity|Lung adenocarcinoma, reduced risk, association with.|Nonalcoholic fatty liver disease fibrosis, association with|Prostate cancer |Prostate cancer, risk, association with|Reduced hepatic insulin resistance,-	ICGC,
chr12	40765598	40765598	A	C	intergenic	LRRK2,MUC19	unknown	SNV	-	-	-	0.0016	-	-	-	-	-	COSN7369675	-	PACA-AU|1|391|0.00256	-	-	integument phenotype,-	Rheumatoid arthritis|Restless leg syndrome.|Potential protein deficiency|Postural instability and gait difficulty, in Parkinson disease|Parkinson disease, reduced risk, association with|Parkinson disease, association with|Parkinson disease |Parkinson and alzheimer disease|Multiple sclerosis|Dyslipidaemia|Concomitant non-skin cancer|Cancer, increased risk, association with|Alzheimer's disease, association with,-	COSMIC,ICGC,
chr5	156150033	156150033	C	T	intronic	SGCD	unknown	SNV	-	-	-	0.0908	rs17053838	-	0.111222	-	0.181	-	-	LAML-KR|1|205|0.00488	-	-	mortality/aging	Muscular dystrophy, limb girdle 2F|Muscular dystrophy, limb girdle 2 |Muscular dystrophy, limb girdle|Cardiomyopathy, dilated|Anorectal malformation	ICGC,
chr2	187970456	187970456	C	T	intergenic	ZSWIM2,CALCRL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,integument phenotype	-,-	ICGC,
chr3	89805804	89805804	G	A	intergenic	EPHA3,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Oligozoospermia|Schizophrenia    |Sertoli-cell-only syndrome,-	ICGC,
chr2	221219116	221219116	C	T	intergenic	MIR4268,EPHA4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,reproductive system phenotype	-,Amyotrophic lateral sclerosis, reduced disease severity	ICGC,
chr4	29587833	29587833	T	G	intergenic	MIR4275,PCDH7	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25352317	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	COSMIC,ICGC,
chr2	42765330	42765330	G	A	intronic	MTA3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	immune system phenotype	Li-Fraumeni syndrome with brain tumours	ICGC,
chr13	113272953	113272953	A	T	intergenic	TUBGCP3,ATP11AUN	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27821989	-	UTCA-FR|1|20|0.05000	-	-	-,-	-,-	COSMIC,ICGC,
chr19	15296089	15296089	T	A	exonic	NOTCH3	nonsynonymous	SNV	0.271	0.001	4.111e-06	-	-	-	-	-	-	COSM3283064	-	-	-	-	integument phenotype	Ischemic stroke, protection against|Migraine with aura and white matter abnormalities|Myofibromatosis, infantile|Periodontal disease, association with|Potential protein deficiency|Pulmonary arterial hypertension|Spontaneous cerebellar haemorrhage.|White matter lesions |Ischemic stroke|Colorectal cancer |Alzheimer's disease |Amyotrophic lateral sclerosis and frontotemporal lobar degeneration with CADASIL|Autism|Balo concentric sclerosis|CADASIL|CADASIL with haemorrhagic strokes|CADASIL with intracerebral haemorrhage |CADASIL with varicose veins	COSMIC,COSMIC,
chr3	156308394	156308394	G	A	intergenic	SSR3,TIPARP-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	mortality/aging,-	-,-	ICGC,
chr20	61285451	61285451	A	C	intronic	SLCO4A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-	-	ICGC,
chr7	14501896	14501896	G	A	intronic	DGKB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	-	ICGC,
chr14	71793543	71793543	C	A	intergenic	PCNX,SNORD56B	unknown	SNV	-	-	-	0.0006	-	-	-	-	-	COSN25728443	-	EOPC-DE|1|202|0.00495	-	-	-,-	-,-	COSMIC,ICGC,
chr13	19729911	19729911	T	C	intergenic	RNU6-52P,TUBA3C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr15	81691510	81691510	A	G	ncRNA_intronic	LOC101929655	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7250126	-	PACA-AU|1|391|0.00256	-	-	-	-	COSMIC,ICGC,
chr14	28411072	28411072	G	C	intergenic	LINC00645,FOXG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	-,West syndrome |Rett-like syndrome|Rett syndrome|Refractory epilepsy & intellectual impairment|Microcephaly, mental retardation & thin genu of corpus callosum|Mental retardation, speech impairment & epilepsy|Mental retardation & speech impairment|Mental retardation & postnatal microcephaly|Mental retardation & callosum abnormalities|Mental retardation|Infantile spasms|Hemifacial microsomia|Generalized dystonia, athetosis and parkinsonism|Developmental delay, microcephaly & hypoplasia of the corpus callosum|Developmental delay, hypotonia, microcephaly & infantile spasms|Developmental delay & slow head growth|Agenesis of corpus callosum	ICGC,
chr8	126365859	126365859	G	T	intronic	NSMCE2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6911120	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr11	100771275	100771275	C	G	intronic	ARHGAP42	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-	-	ICGC,
chr4	148200520	148200520	G	A	intergenic	TTC29,EDNRA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Reduced pulmonary function, in cystic fibrosis, association with|Myocardial infarction|Migraine, association with|Intracranial aneurysm, increased risk, association with|Hypertension, protection against, association with |Hernia, diaphragmatic |Congenital absence of the vas deferens, association with|Breast cancer, susceptibility to, association with|Adrenal hyperplasia, macronodular, ACTH-independent	ICGC,
chr11	92854783	92854783	G	A	intergenic	MTNR1B,SLC36A4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	normal phenotype,-	Increased fasting glucose  & descreased HOMA-B, association with|Increased body mass/decreased fasting plasma glucose, association with|Impaired Gi protein-dependent signalling|Diabetes, type 2, increased risk, association with |Diabetes, type 2, association with|Diabetes, type 2 |Diabetes mellitus, gestational, association with|Altered receptor function  |Adolescent idiopathic scoliosis, association with ,-	ICGC,
chr13	70156272	70156272	G	A	intergenic	LINC00550,KLHL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,behavior/neurological phenotype	-,Breast cancer, increased risk  	ICGC,
chr4	162551279	162551279	T	-	intronic	FSTL5	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Schizophrenia  |Rolandic epilepsy 	ICGC,
chr6	112856081	112856081	C	T	intergenic	RFPL4B,MARCKS	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,mortality/aging	-,-	ICGC,
chr20	38386606	38386606	-	T	intergenic	LOC339568,LINC01370	unknown	insertion	-	-	-	3.238e-05	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr1	10514424	10514424	T	G	intergenic	APITD1-CORT,DFFA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,behavior/neurological phenotype	-,-	ICGC,
chr15	95489782	95489782	G	A	intergenic	LOC440311,LINC01197	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr20	37886995	37886995	C	T	intergenic	LOC339568,LINC01370	unknown	SNV	-	-	-	0.0001	-	-	-	-	-	COSN19302595	-	CLLE-ES|1|510|0.00196	-	-	-,-	-,-	COSMIC,ICGC,
chr7	146881979	146881979	C	T	intronic	CNTNAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype	Gilles de la Tourette syndrome|Intellectual disability  |Learning disability & speech problems|Mental retardation |Mental retardation, Pitt-Hopkins-like|Multiple congenital anomalies  |Seizures, neonatal |Speech delay  |Stuttering |Epileptic encephalopathy  |Epilepsy and schizophrenia|Autism|Autism spectrum disorder |Autism spectrum disorder, modifier of|Childhood apraxia of speech|Cortical dysplasia-focal epilepsy syndrome|Developmental and/or speech and/or behavioural problems|Developmental delay  |Developmental delay & dysmorphic features|Dyslexia 	ICGC,
chr7	125254098	125254098	T	A	intergenic	LOC101928283,GRM8	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9827149	-	OV-AU|1|93|0.01075	-	-	-,behavior/neurological phenotype	-,Attention deficit hyperactivity disorder|Autism spectrum disorder  	COSMIC,ICGC,
chr2	120348696	120348696	G	A	intronic	PCDP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr6	27352573	27352573	G	C	intergenic	ZNF204P,ZNF391	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17293519	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chrX	91621278	91621278	T	G	intronic	PCDH11X	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-	Absent speech, intellectual disability & behavioural problems|Attention deficit hyperactivity disorder & obsessive compulsive disorder|Developmental dyslexia |Language delay, nonsyndromic 	ICGC,
chr11	103678742	103678742	C	A	intergenic	DYNC2H1,MIR4693	unknown	SNV	-	-	-	0.0007	rs79056961	-	0.000199681	-	-	-	-	MALY-DE|1|241|0.00415	-	-	mortality/aging,-	Short rib-polydactyly syndrome, type 3|Short rib-polydactyly syndrome, Majewski type|Short rib-polydactyly syndrome|Asphyxiating thoracic dystrophy,-	ICGC,
chr19	8000734	8000734	C	T	intronic	TIMM44	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-	Oncocytic thyroid carcinoma	ICGC,
chr11	43199577	43199577	A	T	intergenic	LOC100507205,HNRNPKP3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	68845674	68845674	T	G	intergenic	WLS,RPE65	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,other phenotype	-,Retinitis pigmentosa|Retinitis pigmentosa / choroideremia|Retinitis pigmentosa, autosomal dominant ?|Retinitis pigmentosa, juvenile-onset|Retinitis pigmentosa?|RPE65 deficiency|Retinal dystrophy, severe, childhood onset|Retinal dystrophy, childhood onset|Retinal dystrophy, autosomal recessive|Retinal dystrophy |Leber congenital amaurosis.|Leber congenital amaurosis ?|Leber congenital amaurosis|Fundus albipunctatus|Cone-rod dystrophy, early-onset, severe	ICGC,
chr2	147187656	147187656	A	T	intergenic	TEX41,PABPC1P2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9862268	-	RECA-EU|1|422|0.00237	-	-	-,-	-,-	COSMIC,ICGC,
chr7	84237280	84237280	A	C	intergenic	LOC101927378,SEMA3D	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Total anomalous pulmonary venous connection|Tetralogy of Fallot|Hirschsprung disease   	ICGC,
chr11	61543961	61543961	T	C	intronic	MYRF	unknown	SNV	-	-	-	0.3475	rs174529	-	0.352436	-	0.362	COSN26729325	-	BRCA-KR|1|50|0.02000,LAML-KR|2|205|0.00976,LUSC-KR|2|170|0.01176	-	-	mortality/aging	-	COSMIC,ICGC,
chr1	240713487	240713487	C	A	intronic	GREM2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-	-	ICGC,
chr21	43211056	43211056	C	T	intergenic	RIPK4,PRDM15	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-UK|1|140|0.00714	-	-	integument phenotype,-	Autism spectrum disorder  |Bartsocas-Papas syndrome,-	ICGC,
chr15	65507551	65507551	G	C	intergenic	CILP,PARP16	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6278142	-	LIRI-JP|1|258|0.00388	-	-	-,-	Lumbar disc disease, association with,-	COSMIC,ICGC,
chr5	114048419	114048419	C	G	intergenic	KCNN2,TRIM36	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	integument phenotype,-	-,-	ICGC,
chr3	160767660	160767660	A	G	intronic	PPM1L	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	cardiovascular system phenotype	-	ICGC,
chr5	76875341	76875341	C	T	intergenic	WDR41,OTP	unknown	SNV	-	-	-	0.7091	rs6453332	-	0.791334	-	0.790	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,-	ICGC,
chr3	48310713	48310713	C	T	UTR3	ZNF589	unknown	SNV	-	-	-	0.0001	-	-	-	-	-	-	-	LUSC-KR|2|170|0.01176	-	-	-	-	ICGC,
chr7	137164840	137164840	C	A	intronic	DGKI	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	tumorigenesis	-	ICGC,
chr3	196820042	196820042	-	T	intronic	DLG1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Schizophrenia|Mental retardation & facial dysmorphism	ICGC,
chr7	66535527	66535527	C	T	intronic	TYW1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr19	52450671	52450671	C	T	intergenic	ZNF613,ZNF350-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr17	72205477	72205477	C	T	intronic	RPL38	unknown	SNV	-	-	1.248e-05	-	rs775976770	8.35e-06	-	-	-	COSN20769804	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	integument phenotype	-	COSMIC,COSMIC,ICGC,
chr7	102614042	102614042	G	C	intronic	FBXL13	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-	-	ICGC,
chr9	105558743	105558743	T	C	intergenic	LINC00587,CYLC2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Potential protein deficiency	ICGC,
chr8	115199317	115199317	-	CT	intergenic	CSMD3,TRPS1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-,integument phenotype	Schizophrenia  |Colorectal cancer ,Tricho-rhino-phalangeal syndrome with supernumerary teeth|Tricho-rhino-phalangeal syndrome III|Tricho-rhino-phalangeal syndrome I|Tricho-rhino-phalangeal syndrome|Infantile scoliosis & developmental delay|Femoral neck width, association with|Ambras syndrome	ICGC,
chr19	31588993	31588993	C	T	intergenic	ZNF536,TSHZ3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	Schizophrenia,-	ICGC,
chr20	59351098	59351098	T	G	intergenic	MIR4533,LOC100506470	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr8	94994269	94994269	G	A	intergenic	PDP1,CDH17	unknown	SNV	-	-	-	6.455e-05	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,hematopoietic system phenotype	Pyruvate dehydrogenase phosphatase deficiency,-	ICGC,
chr8	113335724	113335724	G	T	intronic	CSMD3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	Schizophrenia  |Colorectal cancer 	ICGC,
chr3	153443534	153443534	G	A	intergenic	C3orf79,ARHGEF26-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	ICGC,
chr1	189992612	189992612	G	A	intergenic	NONE,BRINP3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	ICGC,
chr11	23173229	23173229	G	A	intergenic	CCDC179,MIR8054	unknown	SNV	-	-	-	0.0006	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr9	130807652	130807652	A	C	intergenic	FAM102A,NAIF1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CN|1|65|0.01538	-	-	-,-	-,-	ICGC,
chr10	9700427	9700427	A	G	intergenic	LOC101928272,LOC101928298	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	-,-	ICGC,
chr1	160082757	160082757	C	G	intergenic	IGSF8,ATP1A2	unknown	SNV	-	-	-	0.0227	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	Dravet syndrome   ,Hemiplegic migraine|Transient nonverbal learning disorder in hemiplegic migraine|Schizophrenia  |Psychotic aura symptoms, in familial hemiplegic migraine type 2.|Migraine|Hemiplegic migraine with cerebral vasoconstriction|Hemiplegic migraine and epilepsy|Hemiplegic migraine 2.|Hemiplegic migraine 2 with febrile seizures|Hemiplegic migraine 2	ICGC,
chr4	160479077	160479077	C	T	intergenic	RAPGEF2,FSTL5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	integument phenotype,-	-,Schizophrenia  |Rolandic epilepsy 	ICGC,
chrX	22117151	22117151	G	A	exonic	PHEX	nonsynonymous	SNV	0.457	0.049	-	-	-	-	-	-	-	COSM4108638	STAD|1|395|0.00253,STES|1|395|0.00253	STAD-US|1|289|0.00346	-	-	mortality/aging	Rickets, hypophosphataemic|Paravertebral ligament ossification, in vitamin-D resistant rickets|Hypophosphataemia 	COSMIC,COSMIC,TCGA,ICGC,
chr6	100838246	100838246	G	A	exonic	SIM1	synonymous	SNV	-	-	0.0005	0.0011	rs143803280	0.0006	0.00159744	0.0014	-	COSM287853	COADREAD|1|489|0.00204,READ|1|122|0.00820	COCA-CN|1|321|0.00312,LAML-KR|1|205|0.00488	-	-	mortality/aging	Reduced transcriptional activity|Obesity, profound|Obesity, early onset  |Obesity with Prader-Willi syndrome|Obesity	COSMIC,TCGA,ICGC,
chr16	34277108	34277108	T	C	intergenic	LINC00273,UBE2MP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr1	239609479	239609479	C	T	intergenic	LINC01139,CHRM3	unknown	SNV	-	-	-	3.23e-05	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,vision/eye phenotype	-,Autistic disorder|Bladder malformation|Diabetes, type 2, increased risk, association |Tetralogy of Fallot	ICGC,
chr3	63333530	63333530	G	T	intronic	SYNPR	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23811044	-	ORCA-IN|1|178|0.00562	-	-	no phenotypic analysis	-	COSMIC,ICGC,
chr8	71871166	71871166	G	A	intergenic	XKR9,EYA1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8099032	-	PACA-AU|1|391|0.00256	-	-	-,mortality/aging	Schizophrenia,Oto-facio-cervical syndrome|Peters' anomaly with cataracts|Renal hypodysplasia|Renal malformation|Ureteropelvic junction obstruction and reduced renal function|Iris anomaly|Hearing loss?|Deafness  |Cayler's cardiofacial syndrome|Cataract, autosomal dominant|Branchio-oto-renal syndrome|Branchio-oto-renal / branchiootic syndrome|Branchio-otic syndrome	COSMIC,ICGC,
chr20	7769505	7769505	G	A	intergenic	MIR8062,HAO1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr8	69034672	69034672	G	A	intronic	PREX2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	-	ICGC,
chr4	28472144	28472144	-	ATGTGT	intergenic	STIM2,MIR4275	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	integument phenotype,-	-,-	ICGC,
chr16	30995004	30995004	A	C	exonic	SETD1A	nonsynonymous	SNV	0.0	1.0	-	-	-	-	-	-	-	COSM4610764	-	-	-	-	mortality/aging	-	COSMIC,
chr19	14050088	14050088	G	A	intronic	PODNL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr13	90280236	90280236	T	A	intergenic	LINC00353,LINC00559	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	147233596	147233596	A	G	intergenic	LOC440982,AGTR1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,Hypertrophic cardiomyopathy, association with|Increased left ventricular mass, association with|Myocardial infarction, acute, association with|Potential protein deficiency|Preeclampsia, association with|Reduced function|Renal tubular dysgenesis|Right coronary artery in STEM1, association with|Severe chronic periodontitis, association with|Hypertension, association with.|Hypertension, association with|Friedreich ataxia, modifier of|Acromegaly, association with|Atrial fibrillation, association with|Benign prostatic hyperplasia, association with|Blood pressure variation in response to potassium, association with|Body mass index, association with|Breast cancer, reduced risk|Carotid intima-media thickness, association with|Chronic kidney disease, association with|Diastolic heart failure, increased risk, association with	ICGC,
chr14	99624483	99624483	G	A	intergenic	C14orf177,BCL11B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,-	ICGC,
chr21	25435615	25435615	T	A	intergenic	D21S2088E,LOC101927869	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CN|1|65|0.01538	-	-	-,-	-,-	ICGC,
chr18	55536163	55536163	G	C	intergenic	ATP8B1,NEDD4L	unknown	SNV	-	-	-	0.1012	rs12953587	-	0.0726837	-	0.072	-	-	ESAD-UK|1|301|0.00332	-	-	growth/size phenotype,mortality/aging	Intrahepatic cholestasis, Greenland type|Intrahepatic cholestasis, familial progressive 1|Intrahepatic cholestasis, familial progressive ?|Intrahepatic cholestasis, familial progressive|Intrahepatic cholestasis, benign recurrent|Intrahepatic cholestasis of pregnancy|Cholestasis, transient neonatal |Cholestasis, intrahepatic|Biliary atresia,Reduced blood pressure under therapy, association with|Protective against orthostatic hypotension|Impaired ENaC regulation|Essential hypertension, association with|Epilepsy, photosensitive generalised|Diastolic blood pressure, association with	ICGC,
chr3	21868844	21868844	G	A	intergenic	ZNF385D,ZNF385D-AS2	unknown	SNV	-	-	-	0.0004	rs539735670	-	0.000199681	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr13	84711393	84711393	C	T	intergenic	SLITRK1,LINC00333	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Trichotillomania|Tourette syndrome|Obsessive-compulsive disorder |Attention deficit hyperactivity disorder ,-	ICGC,
chr13	57908377	57908377	G	A	intergenic	PRR20A,PCDH17	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24988209	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	COSMIC,ICGC,
chr5	17932025	17932025	C	T	intergenic	LOC401177,CDH18	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17581042	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,Anorectal malformation	COSMIC,ICGC,
chr4	66632648	66632648	G	T	intergenic	EPHA5-AS1,LOC101927237	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27727431	-	NKTL-SG|1|50|0.02000	-	-	-,-	-,-	COSMIC,ICGC,
chr10	106331169	106331169	C	T	intergenic	LOC101927523,SORCS3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	203203309	203203309	T	C	intergenic	CHIT1,LINC01353	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	immune system phenotype,-	Chitotriosidase deficiency|Colorectal cancer, increased risk, association with|Longevity, association with|Reduced enzyme activity|Severe asthma with fungal sensitization ,-	ICGC,
chr5	27035614	27035614	G	A	intronic	CDH9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BOCA-FR|1|98|0.01020	-	-	-	-	ICGC,
chr2	221643122	221643122	T	C	intergenic	MIR4268,EPHA4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,reproductive system phenotype	-,Amyotrophic lateral sclerosis, reduced disease severity	ICGC,
chr16	13797265	13797265	G	A	intergenic	SHISA9,ERCC4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Xeroderma pigmentosum (F)|Progeroid syndrome|Potential protein deficiency|Lung cancer, susceptibility to|Fanconi anaemia|Combined xeroderma pigmentosum, cockayne syndrome and fanconi anaemia|Cockayne syndrome|Breast cancer  |Breast and/or ovarian cancer|Bladder cancer, increased risk, association with	ICGC,
chr1	50237425	50237425	C	A	intronic	AGBL4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17293542	-	ESAD-UK|1|301|0.00332	-	-	-	Autism spectrum disorder, association with	COSMIC,ICGC,
chr9	77962581	77962581	C	A	intergenic	OSTF1,MIR548H3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr17	18301265	18301265	G	C	intergenic	EVPLL,FLJ35934	unknown	SNV	-	-	-	0.2161	rs141082242	-	-	-	-	COSN19632571	-	LAML-KR|1|205|0.00488	-	-	-,-	-,-	COSMIC,COSMIC,ICGC,
chr18	27841093	27841093	G	A	intergenic	NONE,MIR302F	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr10	7593527	7593527	G	A	intergenic	SFMBT2,ITIH5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr11	14632450	14632450	C	A	intronic	PSMA1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr2	125522745	125522745	G	A	intronic	CNTNAP5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-	Autism	ICGC,
chr2	100134267	100134267	G	T	intergenic	REV1,AFF3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	mortality/aging,skeleton phenotype	-,Developmental delay  |Mesomelic dysplasia	ICGC,
chr5	162048669	162048669	G	A	intergenic	GABRG2,CCNG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,mortality/aging	Seizures, generalized tonic-clonic|Myoclonic epilepsy of infancy |Generalized epilepsy with febrile seizures plus|Febrile seizures|Epilepsy, susceptibility to|Epilepsy, idiopathic generalised  |Epilepsy, childhood absence with febrile seizures|Dravet syndrome,-	ICGC,
chr15	53740219	53740219	T	C	intergenic	ONECUT1,WDR72	unknown	SNV	-	-	-	0.4110	rs16966102	-	0.32508	-	0.391	-	-	LAML-KR|1|205|0.00488	-	-	mortality/aging,-	-,Amelogenesis imperfecta|Hypomaturation amelogenesis imperfecta	ICGC,
chr3	154085572	154085572	A	G	intronic	GPR149	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15176537	-	ESAD-UK|1|301|0.00332	-	-	reproductive system phenotype	-	COSMIC,ICGC,
chr11	29287070	29287070	G	T	intergenic	MIR8068,KCNA4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23649460	-	ESAD-UK|1|301|0.00332	-	-	-,behavior/neurological phenotype	-,-	COSMIC,ICGC,
chr1	196928895	196928895	C	A	downstream	CFHR2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	Macular degeneration, age related, protection against |Low C3 plasma levels & Factor B activation|C3 glomerulopathy with dense deposit disease|Autism spectrum disorder	ICGC,
chr2	140595121	140595121	C	T	intergenic	YY1P2,LRP1B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Schizophrenia   	ICGC,
chr8	66128130	66128130	G	A	intergenic	LINC00251,LINC01299	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr3	144580981	144580981	C	T	intergenic	C3orf58,PLOD2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Bruck syndrome	ICGC,
chr18	67381958	67381958	G	A	intronic	DOK6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr3	104944767	104944767	G	A	intergenic	MIR548A3,ALCAM	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,vision/eye phenotype	-,Breast cancer, increased risk, association with  |Schizophrenia	ICGC,
chr1	196864038	196864038	-	CAACAAAAA	intronic	CFHR4	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|2|67|0.02985	-	-	-	-	ICGC,
chr20	50564523	50564523	C	T	intergenic	LINC01429,ZFP64	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1875473	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr17	3039757	3039757	C	T	intergenic	OR1G1,OR1A2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr15	87482668	87482668	C	T	intronic	AGBL1	unknown	SNV	-	-	-	0.0018	rs191592971	-	0.000798722	-	-	COSN22549251	-	BRCA-EU|1|569|0.00176	-	-	-	Fuchs corneal dystrophy, late-onset 	COSMIC,ICGC,
chr19	2248171	2248171	C	T	exonic	SF3A2	nonsynonymous	SNV	0.029	0.012	-	-	-	-	-	-	-	COSM5586543	-	-	-	-	-	-	COSMIC,
chr3	193062213	193062213	T	C	intronic	ATP13A5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5042345	-	LINC-JP|1|394|0.00254	-	-	-	Autism spectrum disorder	COSMIC,ICGC,
chr2	224142159	224142159	G	A	intergenic	KCNE4,SCG2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	Periodic paralysis |Atrial fibrillation, association with|Atrial fibrillation ?,Hypertension, association with	ICGC,
chr17	62493147	62493147	C	T	UTR5	POLG2	unknown	SNV	-	-	-	3.229e-05	rs552693721	-	0.00159744	-	-	-	-	-	Progressive_External_Ophthalmoplegia_with_Mitochondrial_DNA_Deletions	-	mortality/aging	Progressive external ophthalmoplegia|Potential protein deficiency|Mitochondrial disease|Late-onset ptosis & myopathy|Developmental delay  	ClinVar,
chr3	1584965	1584965	T	G	intergenic	CNTN6,CNTN4	unknown	SNV	-	-	-	0.0151	rs79942888	-	0.0123802	-	0.007	-	-	LAML-KR|1|205|0.00488	-	-	behavior/neurological phenotype,nervous system phenotype	Intellectual disability  ,Spinocerebellar ataxia 16 |Features of 3p deletion syndrome|Autism spectrum disorder |Autism	ICGC,
chr7	57335377	57335377	A	G	intergenic	GUSBP10,MIR3147	unknown	SNV	-	-	-	3.228e-05	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr14	87930173	87930173	T	G	intergenic	LOC283585,GALC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	-,mortality/aging	-,Krabbe disease, association with|Krabbe disease|Glaucoma, primary open-angle|Glaucoma, primary open angle	ICGC,
chr4	164921291	164921291	T	C	intronic	MARCH1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16646738	-	PACA-CA|1|268|0.00373	-	-	hematopoietic system phenotype	-	COSMIC,ICGC,
chr4	188015763	188015763	A	C	intergenic	FAT1,LOC339975	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6820158	-	LIRI-JP|1|258|0.00388	-	-	integument phenotype,-	Autism,-	COSMIC,ICGC,
chrX	139236690	139236690	C	T	intergenic	LOC389895,SOX3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,XX male sex reversal with growth retardation & microcephaly|XX male sex reversal with genital abnormalities|XX male sex reversal|Potential protein deficiency|Pituitary hormone deficiency, combined|Mental retardation with growth hormone deficiency|Hypopituitarism|Hypoparathyroidism|Hypertrichosis, congenital generalised |Hyperphagia & developmental delay	ICGC,
chr8	21364700	21364700	G	A	intergenic	LOC101929172,GFRA2	unknown	SNV	-	-	-	0.0003	rs369221556	-	0.000599042	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,integument phenotype	-,-	ICGC,
chr8	119385375	119385375	G	A	intronic	SAMD12	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chrX	149807436	149807436	T	-	exonic	MTM1	frameshift	deletion	-	-	-	-	-	-	-	-	-	-	-	-	Severe_X-linked_myotubular_myopathy	-	mortality/aging	Myotubular myopathy with subdural haemorrhage.|Myotubular myopathy with peliosis hepatis|Myotubular myopathy |Centronuclear myopathy	ClinVar,
chr6	8889687	8889687	T	G	intergenic	LOC100506207,TFAP2A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	-,Schizophrenia, episodic, association |Orofacial clefting |Developmental delay/intellectual disability and nasolacrimal duct obstruction|Cisplatin resistance|Branchio-oculo-facial syndrome with thyroglossal duct cyst|Branchio-oculo-facial syndrome	ICGC,
chr5	110157886	110157886	C	T	intergenic	SLC25A46,TSLP	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	Tetralogy of Fallot,Increased promoter activity, association with|Generalized vitiligo, susceptibility to, association with|Bronchial asthma, association with |Asthma, reduced risk, in females, association with.	ICGC,
chr12	56089382	56089382	A	G	exonic	ITGA7	nonsynonymous	SNV	0.0	1.0	-	-	-	-	-	-	-	-	-	NACA-CN|1|21|0.04762	-	-	mortality/aging	Myopathy, congenital|Lung cancer, susceptibility to, association with|Congenital fibre type disproportion	ICGC,
chr5	127637207	127637207	A	T	intronic	FBN2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	-	not_specified	-	mortality/aging	Contractural arachnodactyly|Congenital heart disease 	ClinVar,
chr1	168394213	168394213	-	A	intergenic	LOC100505918,XCL2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	ICGC,
chr4	104874425	104874425	C	T	intergenic	TACR3,CXXC4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,-	Kallmann syndrome|Hypogonadotropic hypogonadism,-	ICGC,
chr10	108094976	108094976	C	A	intergenic	LOC101927549,SORCS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CN|1|65|0.01538	-	-	-,other phenotype	-,Autism 	ICGC,
chr1	17313390	17313390	C	T	exonic	ATP13A2	nonsynonymous	SNV	0.003	0.998	2.034e-05	-	rs750963832	1.665e-05	-	-	-	-	-	UCEC-US|1|250|0.00400	-	-	-	Kufor Rakeb syndrome|Spastic paraplegia and parkinsonism|Parkinsonism, pyramidal disturbances & oculomotor abnormalities|Parkinsonism, juvenile|Parkinsonism with dementia|Parkinson disease, increased risk |Parkinson disease, familial |Parkinson disease|Neuronal ceroid lipofuscinosis  |Manganese toxicity, association with|Kufor-Rakeb syndrome	ICGC,
chr6	68617314	68617314	-	T	intergenic	NONE,BAI3	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr8	97103818	97103818	T	G	intergenic	LOC100500773,GDF6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,Ocular & skeletal abnormalities|Leri's pleonosteosis|Leber congenital amaurosis.|Leber congenital amaurosis|Klippel-Feil syndrome|Chiari type I malformation?|Anophthalmia, bilateral 	ICGC,
chr20	20884729	20884729	C	G	intergenic	RALGAPA2,KIZ	unknown	SNV	-	-	-	-	rs568824606	-	0.000199681	-	-	COSN21337567	-	BRCA-UK|1|141|0.00709,BRCA-EU|1|569|0.00176	-	-	-,-	-,Rod-cone dystrophy, autosomal recessive	COSMIC,ICGC,
chr9	83653228	83653228	G	A	intergenic	LOC101927477,TLE1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6396365	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr2	234653408	234653408	A	G	intronic	UGT1A10,UGT1A3,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5790273	-	LINC-JP|1|394|0.00254	-	-	-,-,-,-,-,-,-,-	Reduced activity|Orolaryngeal carcinoma, risk, association with,Altered enzyme activity|Altered flavonoid metabolism,Reduced expression|Potential protein deficiency|Null allele |Increased promoter activity|Decreased activity|Crigler-Najjar syndrome 2,UDP glucuronosyltransferase deficiency,UDP glycosyltransferase deficiency|Reduced activity|Lung cancer, reduced risk  |Lung cancer, increased risk|Bladder cancer, protection against, association with|Altered enzyme activity|Altered deferiprone response|Adverse deferiprone response,UDP glycosyltransferase deficiency|Reduced promoter activity|Reduced catalytic activity, association with|Reduced catalytic activity|Gastrointestinal cancer, association with,Reduced activity,Increased expression|Orofacial clefting |Reduced activity|UDP glycosyltransferase deficiency	COSMIC,ICGC,
chr7	57491860	57491860	C	G	intergenic	MIR3147,ZNF716	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22692611	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr3	857529	857529	G	C	ncRNA_intronic	LINC01266	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20968796	-	BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr12	77439960	77439960	C	T	exonic	E2F7	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM6326096	-	LICA-CN|1|402|0.00249	-	-	mortality/aging	-	COSMIC,COSMIC,ICGC,
chr3	168622691	168622691	A	G	ncRNA_intronic	LOC100507661	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr11	106222189	106222189	C	T	intergenic	LOC101928535,GUCY1A2	unknown	SNV	-	-	-	-	rs558073625	-	0.000199681	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,hematopoietic system phenotype	-,-	ICGC,
chr7	77557570	77557572	TTT	-	intronic	PHTF2	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr7	136275953	136275953	G	A	intergenic	LUZP6,CHRM2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Reduced expression|Major depression in women, association with|Cardiomyopathy, dilated	ICGC,
chr7	114583168	114583181	CTTTTGATATTCCC	-	intronic	MDFIC	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr1	237845622	237845622	A	T	intronic	RYR2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	NKTL-SG|1|50|0.02000	-	-	mortality/aging	Long QT syndrome|Sudden cardiac death|Sudden cardiac death.|Sudden infant death syndrome|Sudden unexplained death  |Ventricular arrhythmia, in chronic heart failure, association with.|Ventricular tachycardia, polymorphic|Left ventricular noncompaction  |Left ventricular non-compaction.|Catecholaminergic polymorphic ventricular tachycardia.|Catecholaminergic polymorphic ventricular tachycardia|Cardiac arrhythmia|Arrhythmogenic right ventricular dysplasia/cardiomyopathy|Arrhythmogenic right ventricular dysplasia type 2|Arrhythmogenic right ventricular cardiomyopathy, association with|Arrhythmogenic right ventricular cardiomyopathy|Altered channel function	ICGC,
chr1	10238888	10238888	C	T	intronic	UBE4B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	-	ICGC,
chr10	25471224	25471224	C	T	intronic	GPR158	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chrX	11792988	11792988	C	T	intronic	MSL3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr17	25770365	25770365	G	A	intergenic	TBC1D3P5,KSR1	unknown	SNV	-	-	-	9.689e-05	rs558814075	-	0.000199681	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	-,-	ICGC,
chr14	73404670	73404670	C	T	intronic	DCAF4	unknown	SNV	-	-	7.655e-05	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Autism	ICGC,
chr5	27111421	27111421	G	T	intergenic	CDH9,LINC01021	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	ICGC,
chr10	132480477	132480477	T	A	intergenic	GLRX3,MIR378C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	-,-	ICGC,
chr1	158305989	158305989	T	C	intergenic	CD1B,CD1E	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,Guillain-Barre syndrome, reduced risk, association with|Impaired lipid antigen presentation, association with	ICGC,
chr3	52954617	52954617	A	G	exonic	SFMBT1	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM3596279	SKCM|1|368|0.00272	SKCM-US|1|335|0.00299,MELA-AU|1|183|0.00546	-	-	-	-	COSMIC,TCGA,ICGC,
chrX	78883187	78883187	C	G	intergenic	ITM2A,TBX22	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2364593	-	LIRI-JP|1|258|0.00388	-	-	-,mortality/aging	-,Cleft palate, non-syndromic|Cleft palate and ankyloglossia, association with|Cleft palate and ankyloglossia|Cleft palate|Cleft lip and palate|Ankyloglossia |Abruzzo-Erickson syndrome	COSMIC,ICGC,
chr3	84683870	84683870	G	A	intergenic	NONE,LINC00971	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	ICGC,
chr20	51658609	51658609	C	T	intronic	TSHZ2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Schizophrenia	ICGC,
chr6	31682610	31682610	T	C	upstream	LY6G6D,LY6G6E	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr6	87216231	87216231	G	A	intergenic	SNHG5,HTR1E	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26451490	-	LIAD-FR|1|32|0.03125	-	-	-,-	-,-	COSMIC,ICGC,
chr5	32728756	32728756	T	G	intronic	NPR3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17288493	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Diastolic dysfunction, association with|Lower ANP in obese hypertensives, association |Reduced protein expression	COSMIC,ICGC,
chr4	63101047	63101047	T	C	intergenic	LPHN3-AS1,TECRL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	4468511	4468511	T	C	intergenic	LINC01304,LINC01249	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr7	89162908	89162908	T	C	intergenic	ZNF804B,STEAP2-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr5	34824015	34824015	G	A	exonic	RAI14	unknown	SNV	0.276	0.771	4.068e-06	-	rs776829641	8.263e-06	-	-	-	COSM5003588	-	-	-	-	-	-	COSMIC,COSMIC,COSMIC,
chr11	40570829	40570829	T	A	intronic	LRRC4C	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8445145	-	OV-AU|1|93|0.01075	-	-	-	-	COSMIC,ICGC,
chr7	149114625	149114625	-	AAA	intergenic	LOC155060,ZNF777	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|4|67|0.05970	-	-	-,-	-,-	ICGC,
chr21	41178978	41178978	G	A	intergenic	IGSF5,PCP4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	normal phenotype,behavior/neurological phenotype	-,-	ICGC,
chr3	131700862	131700862	G	A	intronic	CPNE4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr2	105371319	105371319	G	T	ncRNA_intronic	LINC01114	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr11	56830902	56830902	G	A	intergenic	OR5AK4P,LRRC55	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr19	11130383	11130383	G	T	intronic	SMARCA4	unknown	SNV	-	-	0	-	rs766415751	0	-	-	-	-	-	-	Rhabdoid_tumor_predisposition_syndrome_2	-	integument phenotype	Small cell carcinoma of the ovary, hypercalcemic type|Rhabdoid tumour predisposition syndrome|Coffin-Siris syndrome	ClinVar,
chr1	33992838	33992838	G	A	exonic	CSMD2	nonsynonymous	SNV	0.048	0.0	-	-	-	-	-	-	-	-	-	GACA-JP|1|585|0.00171	-	-	-	Schizophrenia	ICGC,
chr2	201619267	201619267	T	C	ncRNA_intronic	AOX2P	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24571300	-	GACA-CN|1|123|0.00813	-	-	-	-	COSMIC,ICGC,
chr8	77362177	77362177	G	A	ncRNA_intronic	LINC01111	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22239356	-	BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr3	178921409	178921409	G	A	exonic	PIK3CA	synonymous	SNV	-	-	0	-	-	-	-	-	-	COSM4714414	-	-	-	-	mortality/aging	Cowden / Cowden-like syndrome  |Megalencephaly-capillary malformation|Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome	COSMIC,COSMIC,
chr17	50014204	50014204	A	G	intronic	CA10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Schizophrenia	ICGC,
chr3	9626540	9626540	C	T	intergenic	LHFPL4,MTMR14	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,behavior/neurological phenotype	-,Decreased enzyme activity|Myopathy, centronuclear	ICGC,
chr3	70414004	70414004	-	T	intergenic	LINC01212,FOXP1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,mortality/aging	-,Speech delay, contractures, hypertonia & blepharophimosis|Mental retardation, speech and language deficits|Intellectual disability & autism|Intellectual disability|Delayed speech/motor development & Chiari I malformation|Congenital heart defects|Childhood apraxia of speech|Autism, speech delay and deficit of motor coordination|Autism spectrum disorder  	ICGC,
chr4	110265918	110265918	G	T	intergenic	COL25A1,SEC24B-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN14952812	-	-	-	-	-,-	Potential protein deficiency,-	COSMIC,
chr7	124931247	124931247	T	C	ncRNA_intronic	LOC101928283	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-	-	ICGC,
chr10	21004415	21004415	A	G	intergenic	MIR4675,NEBL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,Cardiomyopathy, dilated|Cardiomyopathy, dilated & endocardial fibroelastosis	ICGC,
chr17	40701804	40701807	AAGA	-	intergenic	NAGLU,HSD17B1	unknown	deletion	-	-	-	0.0013	rs377604031	-	-	-	-	COSN19520233	-	PBCA-DE|2|499|0.00401	-	-	integument phenotype,-	Sanfilippo syndrome B,Endometriosis, association with   |Decreased promoter activity|Breast cancer in caucasians, protection against, association with	COSMIC,COSMIC,COSMIC,ICGC,
chr4	181128766	181128766	T	A	intergenic	NONE,LINC00290	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN18896386	-	-	-	-	-,-	-,-	COSMIC,
chr6	45416846	45416846	C	T	intronic	RUNX2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	integument phenotype	Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly|Lack of typical supernumerary teeth, in cleidocranial dysplasia.|Femoral neck-bone mineral density, association with|Craniosynostosis, single-suture|Craniosynostosis|Cleidocranial dysplasia & hypophosphatasia|Cleidocranial dysplasia	ICGC,
chr7	121490462	121490462	C	A	intergenic	FAM3C,PTPRZ1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2197500	-	LIRI-JP|1|258|0.00388	-	-	-,integument phenotype	Obesity, coarse features, short stature, developmental delay & hypoplastic fifth digit,-	COSMIC,ICGC,
chr2	62160992	62160992	G	A	intronic	COMMD1	unknown	SNV	-	-	-	3.24e-05	-	-	-	-	-	-	-	EOPC-DE|1|202|0.00495	-	-	mortality/aging	Elevated urinary copper 	ICGC,
chr2	137483426	137483426	T	C	intergenic	CXCR4,THSD7B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5481944	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging,-	WHIM syndrome,Autism spectrum disorder	COSMIC,ICGC,
chr11	35188089	35188089	G	A	intronic	CD44	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	integument phenotype	Osteoporosis, susceptibility to, association|Nasopharyngeal carcinoma, association with|Indian blood group variant|CD44 variant	ICGC,
chr7	24936715	24936715	G	A	intronic	OSBPL3	unknown	SNV	-	-	-	-	rs527569358	-	0.000399361	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	High HDL cholesterol	ICGC,
chr7	99959711	99959711	G	T	ncRNA_intronic	STAG3L5P-PVRIG2P-PILRB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr20	55671075	55671075	G	T	intergenic	TFAP2C,BMP7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	mortality/aging,integument phenotype	-,Hypospadias|Eye / skeletal anomalies	ICGC,
chr5	64475109	64475109	G	A	intronic	ADAMTS6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Schizophrenia	ICGC,
chr4	115442842	115442842	T	-	intergenic	ARSJ,UGT8	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,Musical ability, association with	ICGC,
chr13	83220312	83220312	G	A	intergenic	NONE,SLITRK1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Trichotillomania|Tourette syndrome|Obsessive-compulsive disorder |Attention deficit hyperactivity disorder 	ICGC,
chr10	129619842	129619842	G	T	intergenic	FOXI2,CLRN3	unknown	SNV	-	-	-	-	rs74232749	-	-	-	0.007	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chrX	58544201	58544201	G	A	intergenic	ZXDA,NONE	unknown	SNV	-	-	-	9.311e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr13	48146827	48146827	C	T	intergenic	HTR2A,SUCLA2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	skeleton phenotype,-	Bipolar I disorder, association with|Consolidation of episodic memory, association|Diminished hippocampal novelty processing, association with|Reduced sensitivity to clozapine, association with|Schizophrenia|Schizophrenia, association with|Suicidal behavior, association with|Systemic sclerosis, association with|Autism, association with|Attention deficit hyperactivity disorder, association with.|Affinity for and potency of atypical antipsychotic drugs, association|Age of onset, in temporal lobe epilepsy, association with.|Alcohol dependence and addiction, association with|Altered affinity for atypical antipsychotic drugs|Altered mRNA expression|Altered potency of atypical antipsychotic drugs|Altered splicing  |Anorexia nervosa, association with,Autism|Encephalomyopathic mitochondrial DNA depletion & methylmalonic aciduria|Encephalomyopathy & mitochondrial DNA depletion|Muscle hypotonia, dystonia, failure to thrive, sensorineural deafness, and dysmorphism|Schizophrenia  	ICGC,
chr3	36520009	36520009	C	T	intronic	STAC	unknown	SNV	-	-	-	3.23e-05	-	-	-	-	-	-	-	PRAD-UK|1|140|0.00714	-	-	-	-	ICGC,
chr10	119158031	119158031	C	T	intergenic	PDZD8,EMX2OS	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr1	187496416	187496416	T	C	intergenic	PLA2G4A,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Asthma, association with|Cryptogenic multifocal ulcerating stenosing enteritis|Increased enzyme activity|Prostanoid biosynthesis deficiency,-	ICGC,
chr16	78861573	78861573	-	CA	intronic	WWOX	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	mortality/aging	Reduced plasma HDL cholesterol, association with|Non-small-cell lung cancer |Microcephaly syndrome, early lethal|Lung cancer, increased risk, association with|Differentiated thyroid carcinoma, association with|Cerebellar ataxia with epilepsy & mental retardation|Cancer |46,XY disorder of sex development 	ICGC,
chr18	1397031	1397031	C	T	intergenic	LINC00470,METTL4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr13	67380720	67380720	A	G	intronic	PCDH9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr13	41323325	41323325	G	T	exonic	MRPS31	nonsynonymous	SNV	0.248	0.887	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr7	28091546	28091546	G	C	intronic	JAZF1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	-	-	ICGC,
chr6	132987824	132987824	G	C	intergenic	TAAR1,VNN1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23642530	-	ESAD-UK|1|301|0.00332	-	-	behavior/neurological phenotype,hematopoietic system phenotype	-,HDL cholesterol concentration, association with|Greater chromatin accessibility	COSMIC,ICGC,
chrX	716695	716695	G	A	intergenic	SHOX,CRLF2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LINC-JP|1|394|0.00254	-	-	-,mortality/aging	Tall stature |Short stature, mental retardation & facial dysmorphisms|Short stature without Madelung deformity|Short stature|Multiple congenital anomalies, skeletal|Mayer-Rokitansky-Küster-Hauser syndrome I|Madelung deformity|Leri-Weill dyschondrosteosis with short stature|Leri-Weill dyschondrosteosis|Langer mesomelic dysplasia|Dyschondrosteosis,-	ICGC,
chr4	63182848	63182848	G	A	intergenic	LPHN3-AS1,TECRL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr16	86133023	86133023	T	C	intergenic	IRF8,LINC01082	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	mortality/aging,-	Coronary heart disease in SLE, association with|Immunodeficiency, autosomal dominant|Immunodeficiency, autosomal recessive|Tuberculosis, association with ,-	ICGC,
chr10	127028626	127028626	T	G	intergenic	CTBP2,TEX36-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	-,-	ICGC,
chr2	165799083	165799083	T	C	intronic	SLC38A11	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9865489	-	RECA-EU|1|422|0.00237	-	-	-	-	COSMIC,ICGC,
chr6	146251057	146251057	T	A	intronic	SHPRH	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-	-	ICGC,
chr14	79228197	79228197	C	T	intronic	NRXN3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24593263	-	GACA-CN|1|123|0.00813	-	-	mortality/aging	Alcohol dependence, association with|Autism spectrum disorder  	COSMIC,ICGC,
chr21	43637934	43637934	-	GG	intronic	ABCG1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	hematopoietic system phenotype	Coronary artery disease, reduced risk, association with|Coronary artery disease, severity, in Japanese men, association with|High HDL cholesterol|Ischaemic heart disease, increased risk, association with|Low HDL cholesterol	ICGC,
chr14	42998311	42998311	T	-	intergenic	LRFN5,FSCB	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	Short stature|Developmental delay, seizures & learning problems ,Tourette syndrome 	ICGC,
chrX	117117648	117117648	A	T	intronic	KLHL13	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-	Peripheral neuropathy  	ICGC,
chr2	1844609	1844609	T	A	exonic	MYT1L	synonymous	SNV	-	-	-	-	-	-	-	-	-	-	LIHC|1|373|0.00268	-	-	-	-	Schizophrenia, childhood onset  |Schizophrenia  |Intellectual disability, obesity, hyperphagia & behavioural difficulties|Intellectual disability, obesity & hyperactivity|Intellectual disability  |Brain malformations |Autism 	TCGA,
chr20	13279730	13279730	G	C	exonic	ISM1	nonsynonymous	SNV	0.131	0.515	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr20	9158102	9158102	C	T	intronic	PLCB4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Auriculocondylar syndrome	ICGC,
chr5	172614254	172614254	G	A	intergenic	BNIP1,NKX2-5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,integument phenotype	-,Wenckebach periodicity|Ventricular septal defect, association with|Ventricular septal defect|Thyroid dysgenesis|Tetralogy of Fallot|Isolated congenital asplenia|Hypoplastic left heart syndrome|Congenital heart disease.|Congenital heart disease, non-syndromic|Congenital heart disease, association with|Congenital heart disease & cardiomyopathy, adult-onset|Accessory atrioventricular connection |Atrial fibrillation|Atrial isomerism|Atrial septal defect|Atrioventricular septal defect |Cardiac disease|Cardiac disease, modifier of|Congenital heart disease 	ICGC,
chr3	30202048	30202048	A	T	intergenic	RBMS3,TGFBR2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,mortality/aging	-,Loeys-Dietz syndrome|Loeys-Dietz syndrome, type II|Marfan syndrome II|Marfan syndrome, incomplete|Marfan-like syndrome|Microcephaly & developmental delay|Non-SGS marfanoid craniosynostosis|Potential protein deficiency|Shprintzen-Goldberg syndrome|Loeys-Dietz aortic aneurysm syndrome|Leprosy, association with|Iron overload disease, ferroportin-associated|Allergic disease, predisposition to|Aortic aneurysm |Aortic aneurysm, thoracic|Breast cancer, protection against, association with.|Cervical artery dissection, spontaneous|Colorectal cancer |Colorectal cancer, non-polyposis|Gastric cancer, reduced risk, association with|Giant cell carcinoma	ICGC,
chr19	53665395	53665395	G	A	intergenic	ZNF347,ZNF665	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	Tetralogy of Fallot,-	ICGC,
chr2	191839976	191839976	C	T	intronic	STAT1	unknown	SNV	-	-	-	0.2062	rs1914408	-	0.195288	-	0.152	COSN15654163	-	LUSC-KR|1|170|0.00588	-	-	integument phenotype	STAT1 deficiency|Mucocutaneous candidiasis |IPEX-like syndrome.|IPEX-like syndrome|Impaired mycobacterial immunity|Immunodeficiency, severe combined.|Immunodeficiency, severe combined|Fusariosis, recalcitrant cutaneous|Disseminated mucormycosis|Disseminated histoplasmosis|Disseminated coccidioidomycosis	COSMIC,COSMIC,ICGC,
chr5	180062079	180062079	-	T	intronic	FLT4	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN14684853	-	-	-	-	integument phenotype	Lymphoedema, primary|Oedema, prenatal generalised	COSMIC,
chr9	80089707	80089707	C	T	ncRNA_intronic	GNA14-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr5	11706489	11706489	G	A	intronic	CTNND2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	Schizophrenia  |Lennox-Gastaut syndrome |Autism spectrum disorder|Anorectal malformation|Altered localisation	ICGC,
chr19	22037388	22037389	TG	-	intergenic	ZNF43,ZNF208	unknown	deletion	-	-	-	0.0013	rs201050434	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr16	60688176	60688176	T	G	intergenic	LOC729159,CDH8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Learning disability  |Autism & learning disability 	ICGC,
chr11	25496130	25496130	C	T	intergenic	LUZP2,ANO3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17942959	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	normal phenotype,-	Anorectal malformation,Craniocervical dystonia|Dystonia, primary torsion	COSMIC,ICGC,
chr8	20309148	20309148	C	T	intergenic	LZTS1-AS1,LOC286114	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr8	9511666	9511666	G	T	intronic	TNKS	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Autism|Schizophrenia	ICGC,
chr11	82207464	82207464	A	T	intergenic	LOC101928989,FAM181B	unknown	SNV	-	-	-	0.0003	rs376428597	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr8	87614777	87614777	T	C	intronic	CNGB3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	vision/eye phenotype	Achromatopsia|Cone dystrophy, autosomal recessive|Cone-rod dystrophy|Macular degeneration, juvenile|Progressive cone dystrophy|Retinitis pigmentosa	ICGC,
chr3	146161782	146161782	C	T	intronic	PLSCR2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|2|100|0.02000,MELA-AU|2|183|0.01093	-	-	-	-	ICGC,
chr6	80441602	80441602	G	T	intergenic	SH3BGRL2,RNY4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr20	14515676	14515676	A	-	intronic	MACROD2	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-	Kabuki syndrome|Attention deficit hyperactivity disorder 	ICGC,
chr20	39501613	39501613	G	A	intergenic	MAFB,TOP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,mortality/aging	Multicentric carpotarsal osteolysis|Intellectual and developmental disabilities|Cleft lip  ,Autism	ICGC,
chr9	3315974	3315974	G	A	intronic	RFX3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Developmental delay  |Developmental delay & postnatal growth retardation|Developmental delay and dysmorphic features|Developmental delay, pervasive developmental delay & epilepsy|Intellectual disability & behavioural problems|Mental retardation & developmental delay	ICGC,
chr1	32058697	32058697	A	G	intergenic	TINAGL1,HCRTR1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,behavior/neurological phenotype	-,Migraine, association with|Polydipsia-Hyponatremia, association with	ICGC,
chr7	150006968	150006968	C	T	intronic	ACTR3C	unknown	SNV	-	-	-	3.231e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Autism spectrum disorder	ICGC,
chr4	172577201	172577201	G	A	intergenic	MIR6082,GALNTL6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr7	9603478	9603478	A	-	intergenic	NXPH1,PER4	unknown	deletion	-	-	-	7.381e-05	-	-	-	-	-	COSN27468958	-	COCA-CN|1|321|0.00312,BTCA-SG|5|71|0.07042	-	-	mortality/aging,-	Breast cancer, increased risk  ,-	COSMIC,COSMIC,ICGC,
chr5	122387021	122387021	C	T	intergenic	PPIC,PRDM6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,-	-,-	ICGC,
chr4	75937876	75937876	G	T	exonic	PARM1	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM4711150	-	PBCA-DE|1|499|0.00200	-	-	-	Schizophrenia	COSMIC,COSMIC,COSMIC,ICGC,
chr2	167027490	167027490	G	A	ncRNA_intronic	LOC101929680	unknown	SNV	-	-	-	-	rs539919583	-	0.000199681	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr2	41062628	41062628	T	-	intergenic	SLC8A1,LOC388942	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging,-	Colorectal cancer, increased risk, association with |Schizophrenia  ,-	ICGC,
chr18	13494127	13494127	C	T	intronic	LDLRAD4	unknown	SNV	-	-	-	3.23e-05	rs749707375	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-	Schizophrenia  	ICGC,
chr1	231666930	231666930	C	T	ncRNA_intronic	TSNAX-DISC1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr1	148548435	148548435	G	A	ncRNA_intronic	NBPF25P	unknown	SNV	-	-	-	0.4974	rs201618331	-	-	-	-	-	-	SKCA-BR|2|100|0.02000	-	-	-	-	ICGC,
chr12	72441245	72441245	C	T	intergenic	TPH2,TRHDE-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Unipolar major depression, association with|Tryptophan hydroxylase 2 deficiency|Suicide, association with |Reduced promoter activity|Increased mRNA expression |Increased amygdala activity|Bipolar affective disorder, association with|Attention-deficit/hyperactivity disorder, association with.|Attention deficit hyperactivity disorder|Alternative splicing|Altered gene expression,-	ICGC,
chr1	86878988	86878988	C	T	intergenic	ODF2L,CLCA2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,liver/biliary system phenotype	-,Leukemia, risk, association with 	ICGC,
chr11	120703771	120703771	A	G	intronic	GRIK4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1127784	-	-	-	-	behavior/neurological phenotype	Modulated hippocampal function, association with|Biopolar disorder, protection, association with	COSMIC,
chr14	43323061	43323061	T	C	intergenic	LRFN5,FSCB	unknown	SNV	-	-	-	-	rs374197612	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	Short stature|Developmental delay, seizures & learning problems ,Tourette syndrome 	ICGC,
chr3	84419524	84419524	C	T	intergenic	NONE,LINC00971	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	132507601	132507601	G	A	intergenic	LOC101927282,PCDH10	unknown	SNV	-	-	-	-	rs558100179	-	0.000199681	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,mortality/aging	-,Schizophrenia|Potential protein deficiency	ICGC,
chr3	95528631	95528631	A	G	intergenic	MTHFD2P1,MIR8060	unknown	SNV	-	-	-	0.0004	rs577244706	-	0.00359425	-	0.014	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr15	65224090	65224090	T	-	intronic	ANKDD1A	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-	-	ICGC,
chr11	4806872	4806872	T	G	intergenic	OR51F1,OR52R1	unknown	SNV	-	-	-	0.0887	rs12806476	-	0.0491214	-	0.130	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	Potential protein deficiency,-	ICGC,
chr16	85159755	85159755	C	T	intergenic	FAM92B,LOC400548	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	ICGC,
chr8	67034943	67034943	G	A	intergenic	DNAJC5B,TRIM55	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,-	ICGC,
chr2	51476637	51476637	-	ATCT	intergenic	NRXN1,NONE	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	mortality/aging,-	Hypotonia|Hypotonia & encephalopathy|Increased white matter volume, association with|Intellectual disability  |Intellectual disability & attention deficit hyperactivity disorder|Intellectual disability & hearing loss|Intellectual disability & pervasive developmental disorder|Intellectual disability and autism|Intellectual disability, nonsyndromic |Intellectual disability, seizures, dysmorphisms & language delay|Growth retardation  |Epilepsy, myoclonic seizures & speech delay|Developmental disorder|Developmental disorder & attention deficit hyperactivity disorder|Developmental disorder, seizures & attention deficit hyperactivity disorder|Developmental/intellectual disability, hypotonia & dysmorphic features|Disorder of muscle, ligament & fascia|Encephalopathy  |Epilepsy  |Epilepsy with cognitive impairment / autism spectrum disorder|Epilepsy with focal seizures|Epilepsy, generalised |Intellectual disability, seizures, language delay & hypotonia|Language delay|Learning difficulties|Respiratory distress & sepsis|Respiratory distress syndrome|Schizophrenia |Schizophrenia, childhood onset |Schizophrenia, disorganised type|Seizures, generalized tonic-clonic & attention deficit hyperactivity disorder|Sensory integration disorder & attention deficit hyperactivity disorder|Speech delay & social communication difficulties|Tourette syndrome|Pervasive developmental disorder / hypotonia|Pervasive developmental disorder|Pervasive developmental delay / mental retardation, lack of coordination & hearing loss|Learning difficulties, ADHD & autism|Mental retardation|Mental retardation, autism, vertebral malformations|Mental retardation, Pitt-Hopkins-like|Microcephaly & mental retardation|Multiple congenital anomalies  |Multiple disabilities|Myoclonic epilepsy   |Neurodevelopmental disorder  |Vertebral anomalies|Developmental delay, speech delay & social communication difficulties|Attention deficit hyperactivity disorder |Autism spectrum disorder, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability & language delay|Autism spectrum disorder, intellectual disability, dysmorphisms, developmental delay & language delay|Autism spectrum disorder, intellectual disability, seizures & developmental delay|Autism spectrum disorder, intellectual disability, seizures, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability, seizures, dysmorphisms & language delay|Autism spectrum disorder, seizures, developmental delay & language delay|Autism, intellectual disability & attention deficit hyperactivity disorder|Autistic disorder|Autism spectrum disorder with developmental & speech delay|Autism spectrum disorder & seizures|Autism spectrum disorder & language delay|Autism |Autism & learning difficulties|Autism & mental retardation|Autism & seizures|Autism spectrum disorder|Autism spectrum disorder & attention deficit hyperactivity disorder|Autism spectrum disorder & developmental delay|Autism spectrum disorder & dysmorphic features|Autism spectrum disorder & intellectual disability|Behavioural problems|Congenital heart defect  |Craniofacial dysmorphism|Developmental delay & speech/motor delay|Developmental delay with early-onset epilepsy|Developmental delay, dysmorphic features & short stature|Developmental delay, epilepsy, autism|Developmental delay, language delay & hypotonia|Developmental delay, learning difficulties, ADHD|Developmental delay, microcephaly & behavioural problems|Developmental delay, pulmonic stenosis & autism spectrum disorder|Developmental delay, short stature and diaphragmatic hernia|Developmental delay, speech delay & microcephaly|Developmental delay & seizures|Developmental delay & seizure disorder|Cystic hygroma, hydrops & micrognathia|Cystic hygroma, shortened upper limbs & fetal demise|Developmental & speech delay|Developmental delay|Developmental delay / autism|Developmental delay & autism|Developmental delay & dysmorphic features|Developmental delay & epilepsy|Developmental delay & hypotonia|Developmental delay & multiple congenital anomalies,-	ICGC,
chr7	21606138	21606138	T	G	intronic	DNAH11	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21224126	-	BRCA-EU|1|569|0.00176	-	-	hematopoietic system phenotype	Tetralogy of Fallot|Primary ciliary dyskinesia and situs inversus|Primary ciliary dyskinesia|Autism|Asthenozoospermia 	COSMIC,ICGC,
chr9	102151753	102151753	C	T	intergenic	NAMA,LOC101928438	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	151673771	151673771	T	-	intergenic	CTB-12O2.1,NMUR2	unknown	deletion	-	-	-	0.0079	-	-	-	-	-	-	-	BTCA-SG|3|71|0.04225	-	-	-,integument phenotype	-,-	ICGC,
chr13	98387070	98387070	A	G	intergenic	RAP2A,IPO5	unknown	SNV	-	-	-	0.2120	rs9517040	-	-	-	-	-	-	LAML-KR|1|205|0.00488	-	-	-,-	-,-	ICGC,
chr10	14844584	14844584	G	A	intergenic	FAM107B,CDNF	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	skeleton phenotype,-	-,-	ICGC,
chr11	39398008	39398008	A	G	intergenic	LOC101928536,LRRC4C	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23828376	-	ORCA-IN|1|178|0.00562	-	-	-,-	-,-	COSMIC,ICGC,
chr16	82421671	82421671	C	T	intergenic	MPHOSPH6,CDH13	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,mortality/aging	-,Higher adiponectin levels|Amyotrophic lateral sclerosis 	ICGC,
chr16	28224456	28224456	C	T	intergenic	XPO6,SBK1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17583581	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr18	11916843	11916843	T	C	intergenic	MPPE1,IMPA2	unknown	SNV	-	-	-	0.2241	rs8085354	-	0.264976	-	0.138	-	-	ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488	-	-	-,normal phenotype	-,Bipolar disorder, association with |Schizophrenia, association with	ICGC,
chr1	42546535	42546535	G	A	intergenic	NONE,GUCA2B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,cardiovascular system phenotype	-,-	ICGC,
chr18	54381594	54381594	A	T	intronic	WDR7	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6128384	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr9	139266593	139266593	C	A	intronic	CARD9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	immune system phenotype	Inflammatory bowel disease, protection against, association with |Fungal infections, susceptibility to|CARD9 deficiency|Ankylosing spondylitis, association with	ICGC,
chr11	73476421	73476421	G	A	intergenic	RAB6A,MRPL48	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,Potential protein deficiency	ICGC,
chr11	37328259	37328260	CA	-	intergenic	C11orf74,LOC103312105	unknown	deletion	-	-	-	0.0003	rs796910562	-	-	-	-	-	-	PBCA-DE|3|499|0.00601	-	-	-,-	-,-	ICGC,
chr6	121027725	121027725	G	A	intergenic	LOC285762,TBC1D32	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,Oro-facio-digital syndrome type IX	ICGC,
chr1	73665041	73665041	G	T	intergenic	NEGR1,LINC01360	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25407889	-	MALY-DE|1|241|0.00415	-	-	behavior/neurological phenotype,-	Obesity, association with|Dyslexia |Body mass index, association with|Attention deficit hyperactivity disorder,-	COSMIC,ICGC,
chr2	174559108	174559108	T	C	intergenic	CDCA7,SP3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6154909	-	LIRI-JP|1|258|0.00388	-	-	-,integument phenotype	Schizophrenia,-	COSMIC,ICGC,
chr8	79740564	79740564	-	GGAT	intergenic	IL7,STMN2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	hematopoietic system phenotype,-	Increased expression,-	ICGC,
chr20	1161786	1161786	C	T	exonic	TMEM74B	nonsynonymous	SNV	0.08	0.42	-	-	-	-	-	-	-	COSM5540549	-	-	-	-	-	-	COSMIC,
chr2	35863492	35863492	G	T	intergenic	MYADML,LOC100288911	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr4	180168576	180168576	C	T	intergenic	LINC01098,LINC00290	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	-,-	ICGC,
chr17	21204260	21204260	C	T	exonic	MAP2K3	synonymous	SNV	-	-	1.625e-05	6.46e-05	rs554826543	8.237e-06	0.000199681	-	-	COSM976591	-	-	-	-	mortality/aging	Autism spectrum disorder  |Potential protein deficiency	COSMIC,
chr7	33900873	33900873	C	G	intergenic	BBS9,BMPER	unknown	SNV	-	-	-	0.0009	rs547128174	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,mortality/aging	Wilms tumour |Tetralogy of Fallot|Nephronophthisis-related ciliopathy|Bardet-Biedl syndrome,Diaphanospondylodysostosis	ICGC,
chrX	98027371	98027371	A	C	intergenic	DIAPH2,XRCC6P5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22255738	-	BRCA-EU|1|569|0.00176	-	-	cardiovascular system phenotype,-	Premature ovarian failure,-	COSMIC,ICGC,
chr4	43962201	43962201	C	T	intergenic	GRXCR1,KCTD8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	behavior/neurological phenotype,-	Hearing impairment, nonsyndromic, autosomal recessive,-	ICGC,
chr7	88786284	88786284	C	A	intronic	ZNF804B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr5	130252891	130252891	A	G	intergenic	CHSY3,HINT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,cellular phenotype	-,Axonal neuropathy with neuromyotonia	ICGC,
chr2	211996723	211996723	T	A	intergenic	CPS1,ERBB4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,integument phenotype	VACTERL |Neonatal pulmonary hypertension, association with|Necrotizing enterocolitis, in preterm infants, association with|Hyperammonaemia, association with|Carbamoyl phosphate synthetase I deficiency|Altered Nitric oxide production and vascular smooth muscle reactivity|Altered glycine metabolism,Schizophrenia |Oligohydramnios|Intellectual disability, hyperactivity & speech developmental delay|Increased promoter activity|Hepatocellular carcinoma, increased risk, association with|Epileptic encephalopathy, early infantile 3|Breast and colorectal cancer, association with|Bipolar disorder, association with |Bipolar disorder |Autism spectrum disorder  |Amyotrophic lateral sclerosis type 19	ICGC,
chr4	173136761	173136761	T	A	intronic	GALNTL6	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25056860	-	MALY-DE|1|241|0.00415	-	-	-	-	COSMIC,ICGC,
chr5	151996742	151996742	G	T	intergenic	NMUR2,LOC101927134	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	integument phenotype,-	-,-	ICGC,
chr8	115445783	115445783	C	-	intergenic	CSMD3,TRPS1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,integument phenotype	Schizophrenia  |Colorectal cancer ,Tricho-rhino-phalangeal syndrome with supernumerary teeth|Tricho-rhino-phalangeal syndrome III|Tricho-rhino-phalangeal syndrome I|Tricho-rhino-phalangeal syndrome|Infantile scoliosis & developmental delay|Femoral neck width, association with|Ambras syndrome	ICGC,
chr7	94660104	94660104	G	A	intronic	PPP1R9A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	behavior/neurological phenotype	-	ICGC,
chr20	49398698	49398698	C	T	intergenic	PARD6B,BCAS4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20672122	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr13	71476803	71476803	C	A	intergenic	ATXN8OS,LINC00348	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	behavior/neurological phenotype,-	Huntington disease  |Spinocerebellar ataxia 8,-	ICGC,
chr4	64056280	64056280	A	G	intergenic	LPHN3-AS1,TECRL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	ICGC,
chr2	44707922	44707922	C	A	intronic	CAMKMT	unknown	SNV	-	-	-	-	rs72790013	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr19	58352547	58352547	T	C	exonic	ZNF587B	nonsynonymous	SNV	1.0	0.004	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-	-	ICGC,
chr16	22207057	22207074	GCCATCGAAATGACTGGA	-	intergenic	VWA3A,EEF2K	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,homeostasis/metabolism phenotype	-,Potential protein deficiency|Schizophrenia	ICGC,
chr19	58850330	58850330	C	T	exonic	ZSCAN22	nonsynonymous	SNV	0.007	1.0	4.063e-06	3.232e-05	-	-	-	-	-	COSM6834334	-	-	-	-	-	-	COSMIC,
chr13	23655807	23655807	T	G	intergenic	BASP1P1,SGCG	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,Muscular dystrophy, limb girdle 2D|Muscular dystrophy, limb girdle 2C|Muscular dystrophy, limb girdle|Muscular dystrophy|Cardiomyopathy and reduced dystrophin expression	ICGC,
chr9	30528281	30528281	T	G	intergenic	LINC01242,ACO1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,mortality/aging	-,Schizophrenia	ICGC,
chrX	14602684	14602684	C	T	intronic	GLRA2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8167296	-	PACA-CA|1|268|0.00373	-	-	mortality/aging	-	COSMIC,ICGC,
chr4	59490663	59490663	C	T	intergenic	IGFBP7-AS1,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr7	155669375	155669375	G	A	intergenic	SHH,LOC389602	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Polysyndactyly, Haas type|Preaxial polydactyly |Preaxial polydactyly, triphalangeal thumb & radial ray deficiency|Solitary median maxillary central incisor|Syndactyly IV  |Syndactyly IV with tibial hypoplasia|Tibial hemimelia-polydactyly-five-fingered hand syndrome|Triphalangeal thumb      |Triphalangeal thumb-polysyndactyly syndrome|Triphalangeal thumb, pre & post-axial polydactyly, & syndactyly|Werner mesomelic syndrome|Poly / syndactyly |Pituitary hypoplasia|Pituitary hormone deficiency, combined|Bilateral closed-lip schizencephaly, corpus callosum absence|Developmental & ocular anomalies|Encephalocele|Holoprosencephaly|Holoprosencephaly & Currarino syndrome|Holoprosencephaly, Currarino syndrome & hand anomalies|Interhemispheric fusion, single nostril nose|Microphthalmia, colobomatous|Multiple congenital eye anomalies, craniofacial dysmorphism & short stature|Muscular hypertrophy, congenital|Ocular anomalies,-	ICGC,
chr3	194148003	194148003	G	A	intronic	ATP13A3	unknown	SNV	-	-	0.1118	0.1724	rs9878918	0.1259	0.229233	0.1689	0.246	-	-	COCA-CN|2|321|0.00623,LAML-KR|1|205|0.00488	-	-	-	-	ICGC,
chr12	56041060	56041060	G	C	intergenic	OR10P1,METTL7B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	-,-	-,-	ICGC,
chr4	188558785	188558785	C	T	ncRNA_intronic	LOC100506272	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr10	57816664	57816664	C	T	intergenic	MTRNR2L5,ZWINT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	32395124	32395124	A	G	intronic	CMTM8	unknown	SNV	-	-	-	0.0852	rs58618958	-	0.110623	-	0.123	-	-	LAML-KR|1|205|0.00488	-	-	-	-	ICGC,
chr7	42923762	42923762	C	G	intergenic	LINC01448,C7orf25	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16986769	-	PRAD-CA|1|308|0.00325	-	-	-,-	-,-	COSMIC,ICGC,
chr4	183053031	183053031	T	A	intergenic	LINC00290,MGC45800	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23625654	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr11	19259108	19259108	-	A	intronic	E2F8	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	mortality/aging	-	ICGC,
chr12	44053014	44053014	A	G	intergenic	ADAMTS20,PUS7L	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21633416	-	BRCA-EU|1|569|0.00176	-	-	integument phenotype,immune system phenotype	-,-	COSMIC,ICGC,
chr9	34651513	34651513	C	T	downstream	IL11RA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging	Craniosynostosis, delayed tooth eruption & supernumerary teeth	ICGC,
chr18	56287340	56287340	T	A	intronic	ALPK2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr9	111215703	111215703	T	-	intergenic	KLF4,ACTL7B	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	PACA-AU|1|391|0.00256	-	-	integument phenotype,-	-,Schizophrenia	ICGC,
chr6	126504098	126504098	C	T	intergenic	MIR5695,CENPW	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	68487627	68487627	GG	AA	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr5	96058416	96058416	T	G	intronic	CAST	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN507416	-	-	-	-	mortality/aging	Alternate splicing	COSMIC,
chr3	21894038	21894038	G	A	intergenic	ZNF385D,ZNF385D-AS2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr21	22208851	22208851	G	A	intergenic	LINC00320,NCAM2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,taste/olfaction phenotype	-,-	ICGC,
chr12	43191024	43191024	A	C	intergenic	LOC101927058,ADAMTS20	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,integument phenotype	-,-	ICGC,
chr11	25553791	25553791	G	A	intergenic	LUZP2,ANO3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5905200	-	LIRI-JP|1|258|0.00388	-	-	normal phenotype,-	Anorectal malformation,Craniocervical dystonia|Dystonia, primary torsion	COSMIC,ICGC,
chr8	87999386	87999386	C	T	intronic	CNBD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr3	164513475	164513475	G	A	intergenic	LINC01192,SI	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,Sucrase isomaltase deficiency	ICGC,
chr11	106647144	106647144	-	CTCAAGCT	intronic	GUCY1A2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	hematopoietic system phenotype	-	ICGC,
chr12	33589830	33589830	C	T	intronic	SYT10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	behavior/neurological phenotype	-	ICGC,
chr3	175913520	175913520	A	G	intergenic	NAALADL2,LINC01208	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	ICGC,
chr1	49814594	49814594	A	G	intronic	AGBL4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27131620	-	ESAD-UK|1|301|0.00332	-	-	-	Autism spectrum disorder, association with	COSMIC,ICGC,
chr11	50539832	50539832	A	T	intergenic	LOC646813,OR4A5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr7	117842231	117842231	C	A	UTR3	LSM8	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7651771	-	PACA-CA|1|268|0.00373	-	-	-	-	COSMIC,ICGC,
chr14	42135527	42135527	C	G	intronic	LRFN5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16590993	-	PACA-CA|1|268|0.00373	-	-	-	Short stature|Developmental delay, seizures & learning problems 	COSMIC,ICGC,
chr6	129558159	129558159	C	T	intronic	LAMA2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Muscular dystrophy, merosin deficient|Myopathy with sarcotubular proliferation|Schizophrenia  |Tuberculoid leprosy, association with |Muscular dystrophy, limb girdle|Muscular dystrophy, congenital 1A.|Muscular dystrophy, congenital 1A, atypical|Muscular dystrophy, congenital 1A|Laminin alpha 2 chain deficiency, partial|Cardiomyopathy, dilated, type 1A	ICGC,
chr1	104027607	104027607	C	G	intronic	LOC101928436	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23252164	-	MALY-DE|1|241|0.00415	-	-	-	-	COSMIC,ICGC,
chr5	87608563	87608563	C	T	ncRNA_intronic	TMEM161B-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr15	36090322	36090322	G	T	ncRNA_intronic	DPH6-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr2	198260841	198260841	C	T	exonic	SF3B1	nonsynonymous	SNV	0.074	0.998	-	-	-	-	-	-	-	-	HNSC|1|512|0.00195	-	-	-	mortality/aging	-	TCGA,
chr9	75641068	75641068	T	A	intergenic	ALDH1A1,ANXA1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7809590	-	PACA-CA|1|268|0.00373	-	-	mortality/aging,mortality/aging	Decreased promoter activity,Autism spectrum disorder	COSMIC,ICGC,
chr7	139770159	139770159	G	A	intergenic	PARP12,KDM7A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chrX	31121206	31121206	C	A	intergenic	FTHL17,DMD	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-AU|1|391|0.00256	-	-	-,mortality/aging	Potential protein deficiency,Muscular dystrophy, Duchenne & Charcot-Marie-Tooth disease|Muscular dystrophy, Duchenne & autism|Muscular dystrophy, Duchenne|Muscular dystrophy, Becker.|Muscular dystrophy, Becker with cognitive impairment|Muscular dystrophy, Becker|Muscular dystrophy, Duchenne-like|Muscular dystrophy, Duchenne, epilepsy, macroglossia and mental retardation|Muscular dystrophy, Duchenne.|Muscular dystrophy, Duchenne/Becker|Muscular dystrophy, intermediate|Myopathy  |Potential protein deficiency|Schizophrenia|Muscular dystrophy, atypical|Muscular dystrophy & intellectual disability|Muscular dystrophy|Autism & neuromotor delay|Autism spectrum disorder|Behavioural issues|Cardiomyopathy, dilated|Cardiomyopathy, dilated, X-linked|Cardiomyopathy, dilated.|Dystrophinopathy|Elevated creatine kinase level|Mild Becker muscular dystrophy|Mental retardation, X-linked|Isolated cardiomyopathy|Increased serum creatine kinase levels|Global developmental delay/intellectual disability|Exertional myalgia, muscle stiffness & myoglobinuria	ICGC,
chr5	14594847	14594847	A	G	intronic	FAM105A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8381741	-	MALY-DE|1|241|0.00415	-	-	-	-	COSMIC,ICGC,
chr5	132149684	132149684	G	C	exonic	SOWAHA	nonsynonymous	SNV	0.252	0.0	0.9705	0.9665	rs40274	0.9764	-	0.9771	0.181	COSM3749900	ACC|26|90|0.28889	COCA-CN|5|321|0.01558,READ-US|3|94|0.03191,COAD-US|4|254|0.01575	-	-	-	-	COSMIC,TCGA,ICGC,
chr2	14893548	14893548	G	A	intergenic	LOC653602,NBAS	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Short stature, optic atrophy & Pelger-Huet 	ICGC,
chr5	57800569	57800569	-	T	intergenic	GAPT,LOC101928600	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332,LIRI-JP|1|258|0.00388	-	-	hematopoietic system phenotype,-	-,-	ICGC,
chr13	76792863	76792863	C	A	intergenic	LMO7DN,KCTD12	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27225405	-	BTCA-SG|1|71|0.01408	-	-	-,-	-,-	COSMIC,ICGC,
chr13	79410796	79410796	C	T	ncRNA_intronic	LINC00331	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr7	96390953	96390953	G	A	intergenic	SHFM1,DLX6-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Squamous cell carcinoma, increased risk, association|Split-hand/split-foot malformation,-	ICGC,
chr2	40895726	40895726	G	C	intergenic	SLC8A1,LOC388942	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Colorectal cancer, increased risk, association with |Schizophrenia  ,-	ICGC,
chr5	101571026	101571026	T	G	UTR3	SLCO4C1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr3	144256075	144256075	G	A	intergenic	C3orf58,PLOD2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23030935	-	SKCA-BR|1|100|0.01000,MALY-DE|1|241|0.00415	-	-	-,-	-,Bruck syndrome	COSMIC,ICGC,
chr1	66129914	66129914	-	AAACAAATA	intergenic	LEPR,PDE4B	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	integument phenotype,mortality/aging	Obesity, childhood onset |Obesity, association with.|Obesity, association with|Obesity-related traits, association with|Obesity|Non-small cell lung cancer, association ith|Obesity, early onset|Obesity, early-onset|Obesity, morbid|Obstructive sleep apnea, association with|Oral cancer, association with|Plasma leptin levels + BMI in obesity, association with|Polycystic ovary syndrome, association with|Reduced serum insulin in obese subjects|Weight loss due to dieting in overweight women, association|Neural tube defects, association with|Metabolic syndrome, association with|Menarche, earlier onset, association with|Altered carbohydrate metabolism|Atherosclerosis, early onset, association with|Breast cancer, association with|Breast cancer, association with.|Bronchitis, chronic, association with.|Churg-Strauss syndrome, association with|Entamoeba histolytica, susceptibility, association with|Higher body mass index, association with|Higher leptin levels and preeclampsia, association with|Increased birth weight, association with|Increased proinflammatory state and stress condition in obesity, association with|Insulin, HOMA, and leptin levels in males, association with|Leptin changes after high monounsaturated fat diet, association withrated|Leptin levels and insulin resistance in patients with NAFLD, assocition with|Lower postprandial lipaemic response in males, association with,Psychiatric disorder |Schizophrenia	ICGC,
chr14	49092576	49092576	-	TTCT	intergenic	LINC00648,RPS29	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr1	177563042	177563042	C	T	intergenic	BRINP2,LOC101928778	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	-,-	ICGC,
chrX	4688227	4688227	G	A	intergenic	LOC101928201,NLGN4X	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Potential protein deficiency|Mental retardation|Kallmann syndrome and ichthyosis|Intellectual disability, short stature & hydrocephaly|Intellectual disability, Kallmann syndrome & ichthyosis|Intellectual disability, behavioural difficulties, ichthyosis & hypogonadotrophic hypogonadism|Intellectual disability, autism spectrum disorder & short stature|Developmental delay, hypospadias & ichthyosis|Developmental delay, autism spectrum disorder, micropenis & ichthyosis|Developmental delay  |Autism, association with|Autism and mental retardation|Autism 	ICGC,
chr7	127634926	127634926	G	C	intronic	SND1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Schizophrenia	ICGC,
chr6	122219554	122219554	G	A	intergenic	GJA1,HSF2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,mortality/aging	Sudden infant death syndrome |Oculodentodigital dysplasia with primary lymphoedema|Oculodentodigital dysplasia|Neurologic dysfunction|Heart malformations|Hallerman-Streiff/ODDD syndrome|Ectodermal & oculodentodigital dysplasia with skin hyperkeratosis|Attenuated phenotype in glaucoma |Cleft lip in oculodentodigital dysplasia.|Craniometaphyseal dysplasia|Deafness|Deafness, autosomal recessive,Idiopathic azoospermia	ICGC,
chr3	179690073	179690073	T	-	intronic	PEX5L	unknown	deletion	-	-	-	0.0089	rs150433099	-	-	-	-	COSN27471119	-	BTCA-SG|6|71|0.08451	-	-	behavior/neurological phenotype	-	COSMIC,ICGC,
chr5	110620436	110620436	T	A	intronic	CAMK4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	integument phenotype	Azoospermia|Longevity, association with 	ICGC,
chrX	74071505	74071505	C	A	intronic	KIAA2022	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Autism spectrum disorder|Intellectual disability with autism spectrum disorder|Intellectual disability, nonsyndromic|Mental retardation, X-linked	ICGC,
chr12	60134929	60134929	A	C	intronic	SLC16A7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	Autism spectrum disorder	ICGC,
chr10	66535290	66535290	C	T	intergenic	REEP3,ANXA2P3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	45092431	45092431	A	T	intergenic	MRPS30,HCN1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6298670	-	LIRI-JP|1|258|0.00388	-	-	-,integument phenotype	-,Idiopathic epilepsy, generalised 	COSMIC,ICGC,
chr8	76273975	76273975	G	A	intergenic	CASC9,HNF4G	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,respiratory system phenotype	-,-	ICGC,
chr3	77751901	77751901	A	T	intergenic	ROBO2,ROBO1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	mortality/aging,mortality/aging	Autism spectrum disorder  |Urinary tract anomalies|Vesicoureteral reflux,Developmental dyslexia 	ICGC,
chr1	87913964	87913964	A	T	intergenic	LINC01364,PKN2-AS1	unknown	SNV	-	-	-	-	rs534668458	-	0.000798722	-	-	-	-	ESAD-UK|1|301|0.00332,GACA-CN|1|123|0.00813	-	-	-,-	-,-	ICGC,
chr18	63547901	63547901	T	G	exonic	CDH7	nonsynonymous	SNV	0.0	0.241	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr14	69621651	69621651	C	T	intergenic	DCAF5,EXD2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17592994	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr12	57372169	57372169	C	T	intergenic	RDH16,GPR182	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr7	136553518	136553518	C	G	UTR5	CHRM2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24783512	-	GACA-CN|1|123|0.00813	-	-	integument phenotype	Reduced expression|Major depression in women, association with|Cardiomyopathy, dilated	COSMIC,ICGC,
chr10	99043929	99043929	G	T	ncRNA_intronic	ARHGAP19-SLIT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr9	8464392	8464392	A	C	intronic	PTPRD	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17800236	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype	Restless legs syndrome, association with|Ewing sarcoma	COSMIC,ICGC,
chr2	156075300	156075300	C	A	intergenic	KCNJ3,AC093375.1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	cardiovascular system phenotype,-	Schizophrenia, association with  ,-	ICGC,
chr12	121857154	121857154	C	T	intronic	RNF34	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5932821	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr2	41519819	41519819	T	C	intergenic	SLC8A1,LOC388942	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7062122	-	-	-	-	mortality/aging,-	Colorectal cancer, increased risk, association with |Schizophrenia  ,-	COSMIC,
chr6	124559154	124559154	A	G	intronic	NKAIN2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27710351	-	NKTL-SG|1|50|0.02000	-	-	-	Developmental delay and recurrent infection|Various neurological abnormalities	COSMIC,ICGC,
chrX	131168134	131168134	-	AGACAT	intronic	MST4	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	-	ICGC,
chr12	98513445	98513445	G	A	intergenic	MIR4303,SLC9A7P1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr12	54978078	54978078	G	T	exonic	PPP1R1A	synonymous	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	behavior/neurological phenotype	Attenuated cardiomyocyte response to stimulation	ICGC,
chrX	34278561	34278561	G	C	intergenic	FAM47A,TMEM47	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25048006	-	LIAD-FR|1|32|0.03125,LICA-FR|1|252|0.00397	-	-	-,-	-,Intellectual disability & language delay	COSMIC,COSMIC,ICGC,
chr10	37532671	37532671	A	G	intergenic	ANKRD30A,LINC00993	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr8	128893691	128893691	-	CTA	intergenic	MIR1204,PVT1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,no phenotypic analysis	-,Prostate cancer risk, association with	ICGC,
chr17	10304998	10304998	C	A	exonic	MYH8	nonsynonymous	SNV	1.0	0.0	0	-	-	-	-	-	-	COSM6232735	-	LICA-CN|2|402|0.00498	-	-	-	Cardiac myxoma and distal arthrogryposis	COSMIC,ICGC,
chr7	147099119	147099119	C	T	ncRNA_intronic	MIR548I4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr6	97710532	97710532	-	CA	ncRNA_intronic	MIR548H3	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr8	89588435	89588435	C	A	intergenic	MMP16,RIPK2	unknown	SNV	-	-	-	0.1989	rs7820262	-	0.184704	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,hematopoietic system phenotype	-,Autism spectrum disorder	ICGC,
chr20	41517087	41517087	T	C	intronic	PTPRT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	homeostasis/metabolism phenotype	Intellectual disability, behavioural problems, microcephaly & cardiac defect|Attention deficit hyperactivity disorder 	ICGC,
chr5	131297043	131297043	T	C	intronic	ACSL6	unknown	SNV	-	-	-	0.4299	rs493829	-	0.521565	-	0.587	-	-	LAML-KR|1|205|0.00488	-	-	-	-	ICGC,
chr2	203366518	203366518	G	A	intronic	BMPR2	unknown	SNV	-	-	-	6.457e-05	rs529100997	-	0.000199681	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Pulmonary hypertension, primary|Pulmonary arterial hypertension.|Pulmonary arterial hypertension, exercise-induced|Pulmonary arterial hypertension|Hypoplastic left heart syndrome	ICGC,
chr8	32081219	32081219	C	T	intronic	NRG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Sudden cardiac death, association with|Schizophrenia, association with  |Schizophrenia in African Americans, association with|Prepulse inhibition, association with|Perceptual aberration of schizotypal personality, association with|Increased lateral ventricle volume in schizophrenia|Hirschsprung disease|Developmental delay, hypotonia & microcephaly|Alzheimers disease, association with	ICGC,
chr12	68520111	68520111	G	A	intergenic	IFNG-AS1,IFNG	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Tuberculosis, susceptibility to, association with|Leprosy, protection against, association with|Lung allograft fibrosis, association with|Multiple sclerosis, susceptibility in men, association|Ossification of posterior longitudinal ligament, association with|Proliferative diabetic retinopathy, association with|Pulmonary tuberculosis, association with|Systemic lupus erythematosus, association with|Tuberculosis, increased risk, association with|Tuberculosis, pulmonary involvement, association with|Langerhans cell histiocytosis, mild phenotype|Increased transcription|Higher promoter activity|Acute coronary syndrome, association with.|Aplastic anaemia, association with|Atopy, association with|Cancer risk, association with|Cervical cancer|Cervical cancer, association with|Chagas disease, association with|Enterovirus 71 encephalitis, association with.|Graft-versus-host disease after allogeneic stem cell transplant|Hashimoto disease, severity, association with	ICGC,
chr6	109159316	109159316	-	CT	intergenic	LINC00222,ARMC2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr15	45653573	45653573	-	TA	UTR3	GATM	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|9|67|0.13433	-	-	-	Arginine:glycine amidinotransferase deficiency	ICGC,
chr3	129828532	129828532	A	C	ncRNA_intronic	FAM86HP	unknown	SNV	-	-	-	0.0195	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr11	118209584	118209584	C	T	downstream	CD3D	unknown	SNV	-	-	-	0.0007	rs143063253	-	0.000599042	-	-	-	-	PEME-CA|1|112|0.00893	-	-	hematopoietic system phenotype	Immunodeficiency, severe combined	ICGC,
chr7	81603241	81603241	A	G	intronic	CACNA2D1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-UK|1|140|0.00714	-	-	behavior/neurological phenotype	Short QT syndrome|Schizophrenia  |Histiocytoid cardiomyopathy|Epileptic encephalopathy  |Brugada syndrome    	ICGC,
chr2	157696639	157696639	T	A	intergenic	GPD2,GALNT5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,normal phenotype	Intellectual disability  |Increased plasma FFA and glycerol levels|Diabetes mellitus, type 2,-	ICGC,
chr15	51510519	51510519	C	T	intronic	CYP19A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Dyslexia, association with|Earlier age at menarche, association with|Hepatocellular carcinoma, increased risk, association with|Higher bone mass density, association with|Increased activity in tumours|Increased cortical bone mass density, association with|Oestrogen excess|Polycystic ovary syndrome, increased risk|Prostate cancer, association with|Reduced activity|Reduced promoter activity|Survival after docetaxel, association with|Disorder of sexual differentiation|Decreased sperm count in obesity, association with|Breast cancer, susceptibility, association with|Altered aromatase activity and estrogen levels in elderly men|Alzheimer disease in women, association with|Alzheimer disease in women, assoiation with|Alzheimer disease, increased risk, association with|Alzheimer's, in APOE4 carriers, increased risk, association|Aromatase deficiency|Aromatase excess syndrome|Breast cancer, reduced risk, association with|Breast cancer, increased risk, association with|Breast cancer, decreased risk, association with|Breast cancer, association with|Bone mass density, association	ICGC,
chr13	80573610	80573610	C	T	intergenic	LINC00382,LINC01080	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN28057230	-	PRAD-CA|1|308|0.00325	-	-	-,-	-,-	COSMIC,ICGC,
chr3	148811383	148811383	T	C	ncRNA_intronic	HLTF-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	CLLE-ES|1|510|0.00196	-	-	-	-	ICGC,
chr4	67719	67719	C	T	intronic	ZNF595,ZNF718	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	ICGC,
chr13	97006692	97006692	T	A	intronic	HS6ST3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr1	181619626	181619626	G	A	intronic	CACNA1E	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24858250	-	PBCA-DE|1|499|0.00200	-	-	behavior/neurological phenotype	Autism|Diabetes, type 2, association with	COSMIC,ICGC,
chr7	78274533	78274533	C	T	intronic	MAGI2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Seizures|Schizophrenia|Myoclonic epilepsy |Infantile spasms in Williams-Beuren syndrome|Infantile spasms|Developmental delay & microcephaly|Developmental delay  |Developmental and/or speech and/or behavioural problems	ICGC,
chr9	90954542	90954542	G	T	intergenic	SPATA31C2,SPIN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	ICGC,
chr5	70815444	70815444	A	G	intronic	BDP1	unknown	SNV	-	-	-	-	rs544416151	-	0.000199681	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-	Hearing loss  	ICGC,
chr10	87629346	87629346	A	G	intronic	GRID1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	skeleton phenotype	Autism spectrum disorder, association with	ICGC,
chr4	56680975	56680975	C	T	intergenic	NMU,LOC644145	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	immune system phenotype,-	Obesity, childhood onset |Obesity, association with,-	ICGC,
chr13	21710979	21710979	C	T	intergenic	LATS2,SAP18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	-,-	ICGC,
chr8	111205373	111205373	C	T	intergenic	KCNV1,CSMD3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22464919	-	BRCA-EU|1|569|0.00176	-	-	behavior/neurological phenotype,-	-,Schizophrenia  |Colorectal cancer 	COSMIC,ICGC,
chr4	151604880	151604880	A	G	intronic	LRBA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-JP|1|585|0.00171	-	-	-	Autoimmunity|Hypogammaglobulinaemia, early-onset with autoimmunity & inflammatory bowel disease|Immunodeficiency, common variable 	ICGC,
chr18	35337279	35337279	T	C	intergenic	MIR4318,LINC00669	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17634720	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr5	22081665	22081665	T	C	intronic	CDH12	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-	Lung cancer, susceptibility to, association with	ICGC,
chr1	199437040	199437040	C	T	intergenic	LINC01222,NR5A2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,-	ICGC,
chr8	108835370	108835370	T	G	intergenic	ANGPT1,RSPO2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17388054	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,integument phenotype	Stroke, reduced risk, association with,Pancreatic cancer 	COSMIC,ICGC,
chrX	88006860	88006860	G	A	intronic	CPXCR1	unknown	SNV	-	-	-	-	rs189902251	-	0.000264901	-	-	COSN9102381	-	OV-AU|1|93|0.01075	-	-	-	-	COSMIC,ICGC,
chr1	32659319	32659319	-	T	intronic	TXLNA	unknown	insertion	-	-	-	0.0002	rs370847797	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-	-	ICGC,
chr18	30236494	30236494	C	T	intergenic	WBP11P1,KLHL14	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	456882	456882	G	A	intronic	EXOC3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN18267289	-	-	-	-	-	-	COSMIC,
chr5	10800264	10800264	A	G	intergenic	DAP,CTNND2	unknown	SNV	-	-	-	0.2385	rs13362474	-	0.209864	-	0.290	-	-	ESAD-UK|1|301|0.00332,LAML-KR|2|205|0.00976	-	-	-,behavior/neurological phenotype	-,Schizophrenia  |Lennox-Gastaut syndrome |Autism spectrum disorder|Anorectal malformation|Altered localisation	ICGC,
chr1	43052573	43052573	C	T	intronic	CCDC30	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20785943	-	BRCA-EU|1|569|0.00176	-	-	-	Schizophrenia	COSMIC,ICGC,
chr4	72413422	72413422	G	A	exonic	SLC4A4	nonsynonymous	SNV	0.005	0.792	-	-	-	-	-	-	-	COSM3605585	SKCM|1|368|0.00272	SKCM-US|1|335|0.00299	-	-	integument phenotype	Reduced transport activity|Proximal renal tubular acidosis|Migraine 	COSMIC,COSMIC,TCGA,ICGC,
chr4	94757984	94757984	C	G	intergenic	ATOH1,SMARCAD1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25897057	-	EOPC-DE|1|202|0.00495	-	-	mortality/aging,mortality/aging	-,Capecitabine sensitivity, association with	COSMIC,ICGC,
chr7	110008500	110008500	A	C	intergenic	EIF3IP1,IMMP2L	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,reproductive system phenotype	-,Gilles de la Tourette syndrome|Autism	ICGC,
chr3	77954008	77954008	A	C	intergenic	ROBO2,ROBO1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27721525	-	NKTL-SG|1|50|0.02000	-	-	mortality/aging,mortality/aging	Autism spectrum disorder  |Urinary tract anomalies|Vesicoureteral reflux,Developmental dyslexia 	COSMIC,ICGC,
chr2	133892774	133892774	G	A	ncRNA_intronic	MIR7853	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr22	39917485	39917485	T	C	exonic	ATF4	nonsynonymous	SNV	0.001	0.679	-	-	-	-	-	-	-	-	HNSC|1|512|0.00195	-	-	-	integument phenotype	-	TCGA,
chr18	65042435	65042435	G	C	intergenic	MIR5011,DSEL	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23439773	-	EOPC-DE|1|202|0.00495	-	-	-,-	-,-	COSMIC,ICGC,
chr6	51030639	51030639	-	A	intergenic	TFAP2B,PKHD1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	integument phenotype,mortality/aging	Patent ductus arteriosus|Nonsyndromic patent ductus arteriosus|Neonatal temperament, association with|Increased expression, association with|Female alcoholism, severe, association with|Endocardial cushion defect|Diabetes, type 2, asssociation with|Char syndrome|Cardiac defects,Renal cystic disease and hepatic fibrosis.|Protection against colorectal cancer|Polycystic kidney disease |Caroli disease	ICGC,
chr13	110506662	110506662	G	A	intergenic	IRS2,COL4A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,mortality/aging	Reduced haemoglobin A1C levels|Longevity, association with|Insulin resistance, severe |Endometriosis, increased risk, association with|Diabetes, type 2, association with|Diabetes, type 2 |Diabetes in overweight people, association with|Altered fasting serum insulin concentration,Porencephaly, intracerebral haemorrhage & white matter disease|Porencephaly, familial|Porencephaly, bilateral|Porencephaly and schizencephaly|Myocardial infarction, protection, association with|Porencephaly, prenatal|Porencephaly, unilateral|Post-ictal hemiparesis|Schizencephaly, bilateral|Schizencephaly, unilateral|Small vessel disease|Stroke, childhood-onset|Walker-Warburg syndrome|Muscle-eye-brain disease|Intraventricular haemorrhage|Acute urinary retention|Angiopathy, nephropathy, aneurysms & muscle cramps|Anterior segment dysgenesis|Arterial stiffness|Axenfeld-Rieger anomaly|Cardiac defects|Foetal intracerebral haemorrhage|Hemiplegia, infantile|Infantile spasms|Intracerebral haemorrhage|Intracerebral haemorrhage, foetal|Intracerebral haemorrhage, late-onset|Intracranial calcification	ICGC,
chr10	76099944	76099944	T	G	intronic	ADK	unknown	SNV	-	-	-	0.1165	rs11001003	-	0.114417	-	0.094	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Hypermethioninaemia|Intellectual disability  |Lower number of permanent teeth erupted, association with 	ICGC,
chr15	23828644	23828644	G	A	intergenic	MKRN3,MAGEL2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6543713	-	PBCA-DE|1|499|0.00200	-	-	-,mortality/aging	Central precocious puberty |Central precocious puberty / early puberty,Prader-Willi syndrome with autism	COSMIC,ICGC,
chr1	220101344	220101344	C	T	exonic	SLC30A10	nonsynonymous	SNV	0.99	0.002	-	-	-	-	-	-	-	COSM4548127	-	-	-	-	-	Parkinsonism, dystonia, hypermanganesaemia, polycythaemia & liver disease|Hepatic cirrhosis, dystonia, polycythaemia & hypermanganesaemia	COSMIC,COSMIC,
chr18	52327848	52327848	G	A	intergenic	DYNAP,RAB27B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,-	ICGC,
chr5	19145889	19145889	G	A	intergenic	LOC401177,CDH18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Anorectal malformation	ICGC,
chr14	45372445	45372445	G	C	exonic	C14orf28	nonsynonymous	SNV	0.012	0.04	-	-	-	-	-	-	-	COSM4849481	CESC|1|194|0.00515	CESC-US|1|194|0.00515	-	-	-	Schizophrenia	COSMIC,TCGA,ICGC,
chr3	165479514	165479514	C	T	intergenic	SLITRK3,BCHE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,Serum cholinesterase deficiency|Potential protein deficiency|Obesity and triglyceride levels, association with|Hypocholinesterasaemia|Fronto-temporal dementia, association with|Cholinesterasaemia|Butyrylcholinesterase variant|Butyrylcholinesterase deficiency|Addiction to crack cocaine, association with|Acholinesterasaemia	ICGC,
chr3	117297280	117297280	C	T	intergenic	LINC00901,IGSF11	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr12	98621535	98621535	G	A	intergenic	MIR4303,SLC9A7P1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,-	-,-	ICGC,
chr1	17587870	17587870	C	T	intronic	PADI3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr3	36004469	36004469	T	A	intergenic	ARPP21,STAC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	nervous system phenotype,-	-,-	ICGC,
chr6	97097486	97097486	G	A	intergenic	FHL5,GPR63	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	reproductive system phenotype,-	-,-	ICGC,
chr20	32164967	32164967	A	G	intronic	CBFA2T2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1870010	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging	Autism spectrum disorder	COSMIC,ICGC,
chr6	71712800	71712800	C	T	intergenic	B3GAT2,OGFRL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr18	9176829	9176829	-	A	intronic	ANKRD12	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	other phenotype	-	ICGC,
chr1	32727585	32727585	C	T	intronic	LCK	unknown	SNV	-	-	-	3.762e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype	T-cell immunodeficiency	ICGC,
chr3	3239694	3239694	G	C	intergenic	CRBN,LRRN1	unknown	SNV	-	-	-	0.1058	rs4392405	-	0.0730831	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	behavior/neurological phenotype,behavior/neurological phenotype	Mental retardation, non-syndromic, autosomal recessive,-	ICGC,
chr8	103000463	103000463	T	G	intronic	NCALD	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	Diabetic nephropathy, association with	ICGC,
chr22	16255580	16255580	T	C	downstream	POTEH	unknown	SNV	-	-	-	0.0002	-	-	-	-	-	COSN19636227	-	LAML-KR|1|205|0.00488,LUSC-KR|3|170|0.01765	-	-	-	Potential protein deficiency	COSMIC,ICGC,
chr13	90727812	90727812	G	T	ncRNA_intronic	LINC00559	unknown	SNV	-	-	-	0.0032	rs66758254	-	-	-	0.043	COSN18869224	-	-	-	-	-	-	COSMIC,
chr1	34066583	34066583	C	T	exonic	CSMD2	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM681041	LUSC|1|178|0.00562	LUSC-US|1|194|0.00515	-	-	-	Schizophrenia	COSMIC,COSMIC,COSMIC,TCGA,ICGC,
chr2	119309294	119309294	G	A	intergenic	INSIG2,LOC101927709	unknown	SNV	-	-	-	-	rs753177400	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Reduced BMI, association with|Obesity, association with,-	ICGC,
chr1	97929797	97929797	-	AAAAATAAAA	intronic	DPYD	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|2|67|0.02985	-	-	-	Schizophrenia  |Reduced enzyme activity|Intellectual disability and autism|Intellectual disability  |Increased enzyme activity|Fluoropyrimidine-related toxicity, association with|Dihydropyrimidine dehydrogenase deficiency, partial|Dihydropyrimidine dehydrogenase deficiency|Autism spectrum disorder  	ICGC,
chr4	55288	55288	G	A	intronic	ZNF595,ZNF718	unknown	SNV	-	-	-	0	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr14	24884134	24884134	C	T	exonic	NYNRIN	nonsynonymous	SNV	0.688	0.0	-	-	-	-	-	-	-	COSM3495530	HNSC|1|512|0.00195,SKCM|1|368|0.00272	SKCM-US|1|335|0.00299	-	-	-	Schizophrenia	COSMIC,TCGA,ICGC,
chr16	35256075	35256075	T	-	intergenic	FLJ26245,NONE	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr11	127916765	127916765	T	G	intergenic	LOC101929497,ETS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,mortality/aging	-,Systemic lupus erythematosus, association with	ICGC,
chr8	109998981	109998981	C	G	intergenic	TMEM74,TRHR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,reproductive system phenotype	-,Essential hypertension, association with|Isolated central hypothyroidism|Schizophrenia	ICGC,
chr3	83174285	83174285	A	G	intergenic	GBE1,LINC00971	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	Potential protein deficiency|Polyglucosan body disease, relapsing-remitting form|Polyglucosan body disease, adult|Lethal multiple pterygium syndrome|Glycogen storage disease 4, non-lethal neuromuscular|Glycogen storage disease 4, neonatal|Glycogen storage disease 4|Autism spectrum disorder|Adult polyglucosan body disease,-	ICGC,
chr7	57910916	57910916	T	G	intergenic	ZNF716,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	ICGC,
chr11	45454558	45454558	A	G	intergenic	LOC399886,CHST1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr9	17898610	17898610	-	T	intergenic	SH3GL2,ADAMTSL1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|2|67|0.02985	-	-	-,-	-,-	ICGC,
chr2	101420089	101420089	C	T	intergenic	PDCL3,NPAS2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,behavior/neurological phenotype	-,Seasonal affective disorder, association with|Non-Hodgkin's lymphoma, reduced risk, association with|Lower testosterone levels|Breast cancer, increased risk, association with|Altered expression	ICGC,
chr11	100940222	100940222	C	G	intronic	PGR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	integument phenotype	Transient tachypnea of newborn, reduced risk |Prostate cancer, association with|Panic disorder, association with|Ovarian cancer, risk, association with|Migraine-vertigo|Insensitivity to mifepristone|Endometriosis, reduced risk, association with|Endometriosis, deep infiltrating, reduced risk, association with|Endometriosis, deep infiltrating, increased risk, association|Endometriosis, association with |Endometrioid and clear cell ovarian cancers, reduced risk|Endometrial cancer, increased risk, association	ICGC,
chr4	97377922	97377922	C	T	intergenic	PDHA2,STPG2-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	182016240	182016240	C	A	intergenic	UBE2E3,MIR4437	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	-,-	ICGC,
chr8	17820034	17820034	C	T	intronic	PCM1	unknown	SNV	-	-	-	0.0002	rs769557191	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Schizophrenia, association with|Schizophrenia  	ICGC,
chr12	56000765	56000765	A	T	intergenic	OR2AP1,OR10P1	unknown	SNV	-	-	-	3.23e-05	-	-	-	-	-	-	-	LAML-KR|1|205|0.00488	-	-	-,-	-,-	ICGC,
chr4	176581817	176581817	A	T	intronic	GPM6A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	reproductive system phenotype	Claustrophobia, association with	ICGC,
chr15	33180403	33180403	C	A	exonic	FMN1	nonsynonymous	SNV	0.014	1.0	4.088e-06	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332,READ-US|1|94|0.01064	-	-	integument phenotype	Autism spectrum disorder|Oligosyndactyly, radioulnar synostosis, hearing loss, renal defect	ICGC,
chr13	65322781	65322781	G	A	intergenic	OR7E156P,PCDH9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	27547309	27547309	G	T	intergenic	MPV17,GTF3C2	unknown	SNV	0.388	-	-	-	-	-	-	-	-	COSN26548682	-	LICA-CN|1|402|0.00249	-	-	integument phenotype,-	Neuropathy & leukoencephalopathy|Neurohepatopathy, adult-onset.|Navajo neurohepatopathy.|Multisystemic disease|Mitochondrial DNA depletion syndrome, hepatocerebral|Mitochondrial DNA depletion syndrome, hepatic|Mitochondrial DNA depletion syndrome|Liver failure in infancy|Lethal hepatopathy & leukodystrophy,Schizophrenia	COSMIC,ICGC,
chr6	83314550	83314550	-	A	intergenic	TPBG,UBE3D	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	mortality/aging,-	-,-	ICGC,
chr2	231777661	231777661	T	C	intronic	GPR55	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype	Anorexia nervosa, association with	ICGC,
chr12	32533035	32533035	A	G	intergenic	BICD1,FGD4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,behavior/neurological phenotype	Shorter telomere length, association with,Hereditary motor & sensory neuropathy|Charcot-Marie-Tooth disease 4H|Charcot-Marie-Tooth disease  	ICGC,
chr21	20596883	20596883	A	G	intergenic	LOC101927797,LINC00320	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8901522	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr7	144549342	144549342	A	G	intergenic	TPK1,CNTNAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,integument phenotype	Thiamine pyrophosphokinase deficiency|Leigh-like disease|Colorectal cancer, increased risk, association with |Autism,Gilles de la Tourette syndrome|Intellectual disability  |Learning disability & speech problems|Mental retardation |Mental retardation, Pitt-Hopkins-like|Multiple congenital anomalies  |Seizures, neonatal |Speech delay  |Stuttering |Epileptic encephalopathy  |Epilepsy and schizophrenia|Autism|Autism spectrum disorder |Autism spectrum disorder, modifier of|Childhood apraxia of speech|Cortical dysplasia-focal epilepsy syndrome|Developmental and/or speech and/or behavioural problems|Developmental delay  |Developmental delay & dysmorphic features|Dyslexia 	ICGC,
chr7	10576000	10576000	G	C	intergenic	PER4,NDUFA4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,Complex I deficiency|Cytochrome c oxidase deficiency	ICGC,
chr1	235505820	235505820	G	T	exonic	GGPS1	nonsynonymous	SNV	0.0	1.0	-	-	-	-	-	-	-	-	COADREAD|1|489|0.00204,READ|1|122|0.00820	-	-	-	no phenotypic analysis	-	TCGA,
chr11	42245186	42245186	A	G	ncRNA_intronic	LOC100507205	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17854268	-	ESAD-UK|1|301|0.00332	-	-	-	-	COSMIC,ICGC,
chr22	39358195	39358195	G	A	exonic	APOBEC3A,APOBEC3A_B	nonsynonymous	SNV	1.0	0.001	-	-	-	-	-	-	-	COSM6526576	-	-	-	-	-,-	-,-	COSMIC,
chr19	36001346	36001346	G	T	UTR5	DMKN	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr13	78030440	78030440	G	A	intergenic	MYCBP2,SCEL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	integument phenotype,normal phenotype	Autism,-	ICGC,
chr18	6458547	6458547	G	T	intergenic	L3MBTL4,C18orf64	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr9	82627095	82627095	T	C	ncRNA_intronic	LOC101927477	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr8	12334352	12334352	C	G	ncRNA_intronic	LOC100506990	unknown	SNV	-	-	-	0.1063	rs796636553	-	-	-	-	COSN20356852	-	COCA-CN|1|321|0.00312,SKCA-BR|1|100|0.01000,PBCA-US|3|186|0.01613	-	-	-	-	COSMIC,ICGC,
chrX	66782698	66782698	C	G	intronic	AR	unknown	SNV	-	-	-	0.0030	rs182048200	-	0.000794702	-	-	-	-	MALY-DE|1|241|0.00415	-	-	integument phenotype	Infertility, idiopathic|Infertility, male|Premature ovarian failure |Primary amenorrhea|Prostate cancer |Prostate cancer, increased risk, association|Pseudohermaphroditism, male|Reifenstein syndrome|Spino-bulbar muscular atrophy (Kennedy disease)|Testicular dysgenesis syndrome|Urothelial carcinoma, association with|Uterine leiomyomas, association with|Very late onset of muscle weakness|Visceral adiposity and hypertension|Hypospadias.|Hypospadias, increased risk|Hypospadias|46,XY complete androgen insensitivity|Alzheimer disease, association with|Androgen insensitivity syndrome|Androgen insensitivity syndrome & Leydig cell hyperplasia|Androgen insensitivity syndrome, partial|Androgen insensitivity syndrome, partial.|Androgenetic alopecia, reduced risk, association with|Autism spectrum disorder, in females, association with|Autism spectrum disorder, protection against, in males, association with|Azoospermia, hypergonadotropic |Breast cancer, male|Defective spermatogenesis|Disorder of sex development  |Endometriosis, association with   	ICGC,
chr9	120987169	120987169	G	A	intergenic	TLR4,BRINP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype,-	Phenotypic variation in haemochromatosis, association with|Periodontitis, association with|Pancreatic necrotic infection, association with|Negative association with FMF|Nasopharyngeal cancer, increased risk, association with|Moraxella catarrhalis infection, increased risk, association with|Metabolic syndrome, association with|Meningococcal disease susceptibility|Meningococcal disease mortality|Lung function, association with|Lower left ventricular mass, in hypertensive women, association|Increased risk of cirrhosis in chronic hepatitis C ?|Increased liver and body fat, association with|Potential protein deficiency|Preterm birth and premature rupture of membranes, association with|Tuberculosis susceptibility, in HIV-infected patients, association|Serious infection, in HIV-1 patients, association with|Retinitis pigmentosa |Reduced LPS-induced IL-12 secretion, association with|Reduced expression|Pulmonary tuberculosis, susceptibility and severity, association|Pulmonary tuberculosis, severity, association with|Protection from urinary tract infection, association with|Protection against being overweight|Prostate cancer, increased risk|Prostate cancer risk, association with|Primary open-angle, normal-tension, and exfoliation glaucoma, association with.|Typhoid infection, increased risk, association with|Increased IL-4 secretion response to measles vaccination, association|Cutaneous leishmaniasis, association with|Crohn's disease, association with|Colorectal cancer, association with.|Colorectal cancer risk, association with|Cervical cancer, early stage, association with|Cancer, increased risk, association with|Bronchopulmonary Dysplasia, infant, association with|Breast cancer, association with.|Behcet disease, protection against, association with|Altered monocyte receptor levels|Acute pyelonephritis, reduced risk in adults, association with|Acute pyelonephritis, in children, association with|Diabetes, type 2, protection against, association with|Digestive system cancer, increased risk & prostate cancer, protection against, association with|Emphysema, association with|Increased expression|Helicobacter pylori-related gastric atrophy, association with|HBV recurrence after liver transplantation, association with|Guillain-Barré syndrome, association with|Guillain-Barré syndrome, AMAN sub-type, association with|Gastritis, association with|Gastric carcinoma, association with|Endometriosis, association with|Endotoxin hyporesponsiveness, association with|Extra-intestinal manifestations in Crohn's disease, association with.|Gastric adenocarcinoma, association with|Gastric cancer, association with,-	ICGC,
chr1	17398429	17398429	T	G	intronic	PADI2	unknown	SNV	-	-	-	0.5996	rs910233	-	0.528355	-	-	-	-	ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488	-	-	immune system phenotype	-	ICGC,
chr17	59996894	59996894	G	A	intronic	INTS2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	mortality/aging	-	ICGC,
chr4	127000793	127000793	A	G	intergenic	MIR2054,INTU	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6796263	-	LIRI-JP|1|258|0.00388	-	-	-,mortality/aging	-,Anorectal malformation	COSMIC,ICGC,
chr2	67582463	67582463	T	A	intergenic	LOC102800447,ETAA1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	ICGC,
chr18	36166913	36166913	G	A	intergenic	MIR4318,LINC00669	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16467123	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr11	79428216	79428216	A	C	intergenic	TENM4,LOC101928944	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24749399	-	GACA-CN|2|123|0.01626	-	-	mortality/aging,-	-,-	COSMIC,ICGC,
chr1	181475667	181475667	C	T	intronic	CACNA1E	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	behavior/neurological phenotype	Autism|Diabetes, type 2, association with	ICGC,
chr21	27336544	27336544	C	T	intronic	APP	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype	Dementia and cerebral microvasculopathy.|Dementia, early-onset |Myoclonic epilepsy   |Potential protein deficiency|Reduced expression|Schizophrenia|Cerebral haemorrhage|Cerebral amyloid angiopathy|Alzheimer disease|Alzheimer disease with cerebral amyloid angiopathy|Alzheimer disease, association with|Alzheimer disease, early onset|Alzheimer disease, protection against |Amyloidosis in cerebral hemorrhage patients	ICGC,
chr13	55023126	55023126	C	T	intergenic	MIR1297,MIR5007	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	87162326	87162326	T	G	intronic	MAPK10	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27152917	-	ESAD-UK|1|301|0.00332	-	-	behavior/neurological phenotype	Epileptic encephalopathy|Hirschsprung disease, modifier of|Intellectual disability  |Tricuspid atresia	COSMIC,ICGC,
chr5	111639329	111639329	G	T	intronic	EPB41L4A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr22	42099262	42099262	G	A	intronic	MEI1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	reproductive system phenotype	-	ICGC,
chr2	56100200	56100200	-	CACACACA	intronic	EFEMP1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	integument phenotype	Malattia leventinese	ICGC,
chr6	55461489	55461489	T	C	intergenic	HMGCLL1,BMP5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Microtia |Osteoarthritis, susceptibility, association with	ICGC,
chr10	108378808	108378808	C	A	intronic	SORCS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6054875	-	LIRI-JP|1|258|0.00388	-	-	other phenotype	Autism 	COSMIC,ICGC,
chr16	62464068	62464068	G	A	intergenic	CDH8,NONE	unknown	SNV	-	-	-	0.0017	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Learning disability  |Autism & learning disability ,-	ICGC,
chr11	109407784	109407784	G	T	intergenic	C11orf87,ZC3H12C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	-,-	-,-	ICGC,
chr12	86814653	86814653	A	G	intronic	MGAT4C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	Prostate cancer, increased risk |Mental retardation	ICGC,
chr3	18765460	18765460	T	C	intergenic	SATB1,KCNH8	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6758417	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging,-	-,-	COSMIC,ICGC,
chr13	56918176	56918176	C	T	intergenic	MIR5007,PRR20A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr12	41241319	41241319	-	A	intronic	CNTN1	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN26106134	-	-	-	-	mortality/aging	Myopathy, lethal congenital|Pancreatic cancer 	COSMIC,
chr1	189980143	189980143	A	C	intergenic	NONE,BRINP3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23637819	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr14	22131291	22131291	C	T	intergenic	OR10G2,OR4E2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	ICGC,
chr1	119123310	119123310	C	A	intergenic	SPAG17,TBX15	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN14944095	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	Autism,Cousin syndrome	COSMIC,ICGC,
chr4	142353472	142353472	T	A	intergenic	LOC100507639,IL15	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-,mortality/aging	-,-	ICGC,
chr11	94152630	94152630	-	GGGA	UTR3	MRE11A	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	mortality/aging	Prostate cancer  |Progressive myoclonic ataxia|Ovarian carcinoma|Ovarian cancer|Nephronophthisis-related ciliopathy|Microcephaly, severe|Impaired DNA repair, association with|Breast cancer    |Ataxia with oculomotor apraxia|Ataxia telangiectasia-like disease	ICGC,
chrX	41936768	41936768	G	A	intergenic	CASK,PPP1R2P9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Autism |Pontocerebellar hypoplasia 3 with early myoclonic epilepsy and tetralogy of Fallot|Pontocerebellar hypoplasia 2|Opitz-Kaveggia syndrome|Ohtahara syndrome & cerebellar hypoplasia|Nystagmus  |Microcephaly, mental retardation, brainstem & cerebellar hypoplasia|Mental retardation, X-linked |Mental retardation, nystagmus & microcephaly|Mental retardation, microcephaly & pontocerebellar hypoplasia|Autism spectrum disorder|Epilepsy & pontocerebellar hypoplasia|Intellectual disability & microcephaly with pontine & cerebellar hypoplasia|Intellectual disability, microcephaly, pontocerebellar hypoplasia|Mental retardation & microcephaly with pontine & cerebellar hypoplasia|Mental retardation & nystagmus,-	ICGC,
chr6	153916910	153916910	C	T	intergenic	RGS17,OPRM1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Striatal dopamine response to alcohol|Post-operative pain response, association with|Pressure pain sensitivity in females, association with|Proinflammatory cytokine levels and health perception, association with|Reduced agonist potency|Reduced agonist potency, association with|Reduced expression|Reduced promoter activity|Smoking behaviour, increased susceptibility|Pain perception, association with|Increased promoter activity|Impaired receptor signalling|Addiction, association with|Altered beta-endorphin binding, association with|Altered reinforcement learning, association with|Altered trafficking and/or signalling|Decreased body mass index, association with|Decreased receptor expression|Drug intake, association with |Epilepsy|Epilepsy, association with 	ICGC,
chr5	63368515	63368515	G	A	intergenic	HTR1A,RNF180	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Tourette syndrome |Reduced expression|Personality disorders, association with.|Menstrual cycle-dependent fever|Major depression and suicide, association with|Major depression|Impulsive behaviour, association with|Epileptic seizures |Comorbid depression and generalized anxiety, association with|Attenuated agonist-mediated receptor down-regulation and desensitization,-	ICGC,
chr3	18859115	18859115	C	T	intergenic	SATB1,KCNH8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,-	-,-	ICGC,
chr20	40712700	40712700	G	C	intronic	PTPRT	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN10015921	-	RECA-EU|1|422|0.00237	-	-	homeostasis/metabolism phenotype	Intellectual disability, behavioural problems, microcephaly & cardiac defect|Attention deficit hyperactivity disorder 	COSMIC,ICGC,
chr6	150063143	150063143	C	T	intronic	NUP43	unknown	SNV	-	-	-	3.331e-05	-	-	-	-	-	COSN25763944	-	EOPC-DE|1|202|0.00495,PBCA-US|1|186|0.00538	-	-	-	-	COSMIC,ICGC,
chr4	35020408	35020408	T	A	intergenic	NONE,ARAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BOCA-UK|1|130|0.00769	-	-	-,-	-,-	ICGC,
chr3	96276951	96276951	C	T	intergenic	MIR8060,EPHA6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,behavior/neurological phenotype	-,Alzheimer disease  	ICGC,
chrX	112058116	112058116	A	G	intronic	AMOT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging	-	ICGC,
chr5	28557745	28557745	G	A	intergenic	LINC01021,LSP1P3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr17	62552085	62552085	C	T	exonic	SMURF2	nonsynonymous	SNV	0.0	1.0	4.079e-06	-	rs782611657	8.294e-06	-	-	-	-	SARC|1|247|0.00405	-	-	-	mortality/aging	-	TCGA,
chr7	20397910	20397910	G	A	intronic	ITGB8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging	-	ICGC,
chr18	71147550	71147550	C	T	intergenic	LOC100505817,FBXO15	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,normal phenotype	-,-	ICGC,
chr17	14182879	14182879	C	A	intergenic	CDRT15,HS3ST3B1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9222121	-	PAEN-AU|1|52|0.01923	-	-	-,-	-,-	COSMIC,ICGC,
chr2	124317105	124317105	G	A	intergenic	TSN,CNTNAP5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	hematopoietic system phenotype,-	-,Autism	ICGC,
chr5	11230648	11230648	C	T	intronic	CTNND2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	Schizophrenia  |Lennox-Gastaut syndrome |Autism spectrum disorder|Anorectal malformation|Altered localisation	ICGC,
chr2	243087645	243087645	A	T	ncRNA_intronic	LOC728323	unknown	SNV	-	-	-	0.0046	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr12	103695196	103695196	A	C	downstream	C12orf42	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	-	ICGC,
chr11	133097151	133097151	G	T	intronic	OPCML	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17526433	-	ESAD-UK|1|301|0.00332	-	-	no phenotypic analysis	Autism spectrum disorder  	COSMIC,ICGC,
chr5	90580927	90580927	C	T	intergenic	GPR98,LUCAT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Usher syndrome 3|Usher syndrome 2|Usher syndrome 1|Usher syndrome|Retinitis pigmentosa|Hearing loss, progressive  |Febrile and afebrile seizures|Deafness, non-syndromic|Deafness  |Autism,-	ICGC,
chr18	36930663	36930663	-	ATTG	ncRNA_intronic	LINC00669	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	-	ICGC,
chr11	57602251	57602251	G	A	intergenic	TMX2-CTNND1,OR9Q1	unknown	SNV	-	-	-	3.229e-05	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr13	89824348	89824348	T	C	intergenic	LINC00433,LINC00353	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-FR|1|72|0.01389	-	-	-,-	-,-	ICGC,
chr12	53210883	53210883	T	G	intergenic	KRT4,KRT79	unknown	SNV	-	-	-	0.1178	rs36105346	-	0.118411	-	0.152	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,-	Oral white sponge nevus|White sponge nevus,-	ICGC,
chr13	25168804	25168804	A	C	ncRNA_intronic	TPTE2P6	unknown	SNV	-	-	-	9.925e-05	-	-	-	-	-	COSN26309349	-	PRAD-UK|1|140|0.00714	-	-	-	-	COSMIC,ICGC,
chr17	72367876	72367876	C	T	exonic	GPR142	synonymous	SNV	-	-	0	-	-	-	-	-	-	COSM5522783	-	-	-	-	-	-	COSMIC,
chr11	81802100	81802100	C	A	ncRNA_intronic	LOC101928989	unknown	SNV	-	-	-	-	rs758976093	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr4	157818096	157818096	C	G	intronic	PDGFC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	integument phenotype	Ovarian cancer, poor survival, association with|Cleft lip with or without cleft palate, association|Bilateral cleft lip & thumb polydactyly	ICGC,
chr8	116969700	116969700	T	C	ncRNA_intronic	LINC00536	unknown	SNV	-	-	-	0.1009	rs73375614	-	0.127396	-	0.014	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr7	136827638	136827638	G	A	ncRNA_intronic	LOC349160	unknown	SNV	-	-	-	0.0007	rs572454027	-	0.000199681	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr2	164600989	164600989	C	-	intergenic	FIGN,GRB14	unknown	deletion	-	-	-	0.0123	rs199585791	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,hematopoietic system phenotype	-,-	ICGC,
chr13	91284344	91284344	A	T	intergenic	LINC01049,LINC00410	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24570494	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	COSMIC,ICGC,
chr6	42408701	42408701	G	A	intronic	TRERF1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15944704	-	PACA-CA|1|268|0.00373	-	-	-	Colorectal cancer, increased risk, association with	COSMIC,ICGC,
chr5	32623723	32623723	C	A	intergenic	SUB1,NPR3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,Diastolic dysfunction, association with|Lower ANP in obese hypertensives, association |Reduced protein expression	ICGC,
chr9	120632366	120632366	G	A	intergenic	TLR4,BRINP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype,-	Phenotypic variation in haemochromatosis, association with|Periodontitis, association with|Pancreatic necrotic infection, association with|Negative association with FMF|Nasopharyngeal cancer, increased risk, association with|Moraxella catarrhalis infection, increased risk, association with|Metabolic syndrome, association with|Meningococcal disease susceptibility|Meningococcal disease mortality|Lung function, association with|Lower left ventricular mass, in hypertensive women, association|Increased risk of cirrhosis in chronic hepatitis C ?|Increased liver and body fat, association with|Potential protein deficiency|Preterm birth and premature rupture of membranes, association with|Tuberculosis susceptibility, in HIV-infected patients, association|Serious infection, in HIV-1 patients, association with|Retinitis pigmentosa |Reduced LPS-induced IL-12 secretion, association with|Reduced expression|Pulmonary tuberculosis, susceptibility and severity, association|Pulmonary tuberculosis, severity, association with|Protection from urinary tract infection, association with|Protection against being overweight|Prostate cancer, increased risk|Prostate cancer risk, association with|Primary open-angle, normal-tension, and exfoliation glaucoma, association with.|Typhoid infection, increased risk, association with|Increased IL-4 secretion response to measles vaccination, association|Cutaneous leishmaniasis, association with|Crohn's disease, association with|Colorectal cancer, association with.|Colorectal cancer risk, association with|Cervical cancer, early stage, association with|Cancer, increased risk, association with|Bronchopulmonary Dysplasia, infant, association with|Breast cancer, association with.|Behcet disease, protection against, association with|Altered monocyte receptor levels|Acute pyelonephritis, reduced risk in adults, association with|Acute pyelonephritis, in children, association with|Diabetes, type 2, protection against, association with|Digestive system cancer, increased risk & prostate cancer, protection against, association with|Emphysema, association with|Increased expression|Helicobacter pylori-related gastric atrophy, association with|HBV recurrence after liver transplantation, association with|Guillain-Barré syndrome, association with|Guillain-Barré syndrome, AMAN sub-type, association with|Gastritis, association with|Gastric carcinoma, association with|Endometriosis, association with|Endotoxin hyporesponsiveness, association with|Extra-intestinal manifestations in Crohn's disease, association with.|Gastric adenocarcinoma, association with|Gastric cancer, association with,-	ICGC,
chr11	37421745	37421745	T	G	intergenic	C11orf74,LOC103312105	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	-,-	-,-	ICGC,
chr3	128375932	128375932	G	A	intergenic	RPN1,RAB7A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17071948	-	-	-	-	-,embryogenesis phenotype	-,Sensory neuropathy|Charcot-Marie-Tooth disease 2b|Autonomic nervous system involvement in CMT2B.	COSMIC,
chr14	83002814	83002814	A	T	intergenic	LOC101928559,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chrX	96494286	96494286	G	A	intronic	DIAPH2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	cardiovascular system phenotype	Premature ovarian failure	ICGC,
chr17	20636674	20636674	A	T	ncRNA_intronic	LOC100287072	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr10	44655232	44655232	C	T	intergenic	LINC00841,LOC100130539	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	33001199	33001199	C	A	intergenic	PCDH7,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5059716	-	LINC-JP|1|394|0.00254	-	-	-,-	-,-	COSMIC,ICGC,
chr19	45051294	45051294	C	T	ncRNA_intronic	CEACAM22P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr4	112217610	112217610	C	T	intergenic	PITX2,C4orf32	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	mortality/aging,-	Ring dermoid of the cornea|Rieger syndrome|Peter anomaly|Omphalocele, association with |Omphalocele|Iris hypoplasia|Iridogoniodysgenesis syndrome|Craniofacial/acallosal CNS midline defects|Axenfeld-Rieger syndrome|Anterior segment dysgenesis,-	ICGC,
chr3	75422989	75422989	A	G	intergenic	MIR4444-1,FAM86DP	unknown	SNV	-	-	-	0.3098	rs34067903	-	0.34365	-	0.174	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chrX	139530411	139530411	G	A	intergenic	LOC389895,SOX3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,XX male sex reversal with growth retardation & microcephaly|XX male sex reversal with genital abnormalities|XX male sex reversal|Potential protein deficiency|Pituitary hormone deficiency, combined|Mental retardation with growth hormone deficiency|Hypopituitarism|Hypoparathyroidism|Hypertrichosis, congenital generalised |Hyperphagia & developmental delay	ICGC,
chr6	120902256	120902256	A	C	intergenic	LOC285762,TBC1D32	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,Oro-facio-digital syndrome type IX	ICGC,
chr18	32293397	32293397	G	A	intronic	DTNA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	mortality/aging	Left ventricular noncompaction with CHD	ICGC,
chr2	113523393	113523393	C	T	intergenic	CKAP2L,IL1A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,immune system phenotype	-,Sudden infant death syndrome, association|Severe malaria, association with|Rheumatoid arthritis, juvenile, association with|Nasopharyngeal carcinoma susceptibility, association with|Modic changes, association with|Malaria, susceptibility, association with|Increase in BMI in obese healthy women, association with|Hepatocellular carcinoma, reduced risk, association with|Gastric cancer, reduced risk|Endometriosis, association with.|End stage renal disease, reduced risk, association with|Alzheimer disease, association with|Alopecia areata, reduced risk	ICGC,
chr13	114874441	114874441	G	A	intronic	RASA3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	integument phenotype	-	ICGC,
chr19	24048376	24048376	C	T	intergenic	RPSAP58,ZNF726	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chrX	42433246	42433246	G	A	intergenic	CASK,PPP1R2P9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype,-	Autism |Pontocerebellar hypoplasia 3 with early myoclonic epilepsy and tetralogy of Fallot|Pontocerebellar hypoplasia 2|Opitz-Kaveggia syndrome|Ohtahara syndrome & cerebellar hypoplasia|Nystagmus  |Microcephaly, mental retardation, brainstem & cerebellar hypoplasia|Mental retardation, X-linked |Mental retardation, nystagmus & microcephaly|Mental retardation, microcephaly & pontocerebellar hypoplasia|Autism spectrum disorder|Epilepsy & pontocerebellar hypoplasia|Intellectual disability & microcephaly with pontine & cerebellar hypoplasia|Intellectual disability, microcephaly, pontocerebellar hypoplasia|Mental retardation & microcephaly with pontine & cerebellar hypoplasia|Mental retardation & nystagmus,-	ICGC,
chr8	140611724	140611724	G	A	intergenic	COL22A1,KCNK9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,respiratory system phenotype	-,Birk Barel mental retardation dysmorphism syndrome	ICGC,
chr16	9857657	9857657	G	T	exonic	GRIN2A	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM340456	-	-	-	-	integument phenotype	Intellectual disability  |Landau-Kleffner syndrome|Landau-Kleffner syndrome, atypical rolandic epilepsy, dysphasia, CSWS syndrome|Landau-Kleffner syndrome, verbal dyspraxia|Landau-Kleffner syndrome/benign epilepsy with centrotemporal spikes/atypical benign partial epilepsy|Mental retardation with abnormal EEG|Partial epilepsy, atypical benign|Rolandic epilepsy |Schizophrenia|Schizophrenia, chronic outcome, association with|Seizure disorders of rolandic region & intellectual disability|Increased hippocampal and amygdala volumes, association with|Epileptic encephalopathy, verbal dyspraxia|Epileptic encephalopathy, benign childhood epilepsy|Alcohol dependence, association with|Atypical rolandic epilepsy, absence epilepsy|Atypical rolandic epilepsy, verbal dyspraxia|Benign epilepsy with centrotemporal spikes|Epilepsy with cognitive impairment|Epilepsy-aphasia syndrome|Epilepsy, childhood-onset|Epileptic encephalopathy|Epileptic encephalopathy, abnormal EEG & developmental delay|Epileptic encephalopathy, atypical rolandic epilepsy, dysphasia|Epileptic encephalopathy, atypical rolandic epilepsy, verbal dyspraxia	COSMIC,
chr20	24834366	24834366	C	T	intergenic	SYNDIG1,CST7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,normal phenotype	-,-	ICGC,
chr22	22879790	22879790	CC	TG	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr9	137372468	137372468	T	A	intergenic	RXRA,COL5A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	integument phenotype,integument phenotype	-,Ehlers-Danlos syndrome with superior mesenteric artery aneurism|Ehlers-Danlos syndrome II|Ehlers-Danlos syndrome I|Ehlers-Danlos syndrome|Disease-modifying in heterozygosity|Decreased mRNA stability|Chronic achilles tendinopathy, association with|Cervical artery dissection, increased risk 	ICGC,
chr19	21818326	21818326	T	C	intergenic	ZNF429,ZNF100	unknown	SNV	-	-	-	0.6010	rs12463374	-	0.580471	-	0.652	-	-	LAML-KR|1|205|0.00488	-	-	-,-	-,-	ICGC,
chr19	4324658	4324658	T	A	exonic	STAP2	nonsynonymous	SNV	-	0.966	1.222e-05	-	-	-	-	-	-	COSM3396344	-	-	-	-	normal phenotype	-	COSMIC,
chr16	74880255	74880255	C	G	intergenic	FA2H,WDR59	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	vision/eye phenotype,-	Spastic paraplegia 35|Spastic paraplegia|Spastic paraparesis with thin corpus callosum|Neurodegeneration with brain iron accumulation  |Neurodegeneration|Leukodystrophy with spastic paraparesis & dystonia|Leukodystrophy with spastic paraparesis  |Developmental delay  |Autism spectrum disorder,-	ICGC,
chr1	11182222	11182222	G	T	intronic	MTOR	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26648588	-	LICA-CN|1|402|0.00249,LUSC-KR|1|170|0.00588	-	-	mortality/aging	Gastric cancer, reduced risk, association with|Renal cell cancer, reduced risk, association with	COSMIC,ICGC,
chr6	138203228	138203228	T	C	UTR3	TNFAIP3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype	Systemic sclerosis, with associated autoimmune disease,, association with.|Systemic sclerosis, susceptibility to, association with|Systemic lupus erythematosus, protection against, assoc|Systemic lupus erythematosus, association with |Systemic lupus erythematosus and rheumatoid arthritis, association with|Sjögren's, Crohn's, psoriasis, and rheumatoid arthritis, association|Sjogren's syndrome, with lymphoma, increased risk|Sjogren's syndrome, with lymphoma|Rheumatoid arthritis, association with|Reduced expression |Potential protein deficiency	ICGC,
chr1	63815339	63815339	A	T	intergenic	MIR6068,ALG6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Congenital disorder of glycosylation 1a, modifier of|Congenital disorder of glycosylation 1c|Congenital disorder of glycosylation 1c, mild|Congenital disorder of glycosylation 1c, modifier of	ICGC,
chr1	163158611	163158611	C	A	ncRNA_intronic	LOC101928404	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr8	118133169	118133169	G	A	intronic	SLC30A8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	vision/eye phenotype	Reduced enhancer activity|Potential protein deficiency|Increased insulin clearance|Higher proinsulin levels, association with|Diabetes, type 2, protection against |Diabetes, type 2, association with|Autoantibody specificity in T1D, association with|Autoantibody specificity in T1D	ICGC,
chr5	101349759	101349759	C	T	intergenic	ST8SIA4,SLCO4C1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	mortality/aging,-	-,-	ICGC,
chr2	187404668	187404668	G	A	intergenic	ZC3H15,ITGAV	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Prostate cancer, reduced risk, association with	ICGC,
chr11	73021210	73021210	C	T	exonic	ARHGEF17	synonymous	SNV	-	-	1.219e-05	-	rs200420934	8.264e-06	0.000199681	-	-	COSM2016843	-	-	-	-	-	Haemoglobin levels, association with	COSMIC,
chr5	111431180	111431180	C	T	intergenic	NREP-AS1,EPB41L4A-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr2	48844854	48844854	A	G	intronic	STON1-GTF2A1L	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr1	47364858	47364858	G	A	ncRNA_intronic	CYP4Z2P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr3	2285049	2285049	T	A	intronic	CNTN4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	nervous system phenotype	Spinocerebellar ataxia 16 |Features of 3p deletion syndrome|Autism spectrum disorder |Autism	ICGC,
chr14	45297076	45297076	C	T	intergenic	FSCB,C14orf28	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	Tourette syndrome ,Schizophrenia	ICGC,
chr19	58211342	58211342	A	G	UTR3	ZNF154	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CN|1|65|0.01538	-	-	-	-	ICGC,
chr2	196748116	196748116	G	A	intronic	DNAH7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	Autism spectrum disorder	ICGC,
chr3	47549437	47549437	-	AGAAAAAAGGTA	intronic	ELP6	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	-	ICGC,
chr3	117836777	117836777	G	T	intergenic	LINC00901,IGSF11	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	UTCA-FR|1|20|0.05000	-	-	-,-	-,-	ICGC,
chrX	50870105	50870105	A	G	ncRNA_intronic	LINC01284	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr18	11651585	11651585	G	A	intergenic	SLC35G4P,MIR7153	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	182885765	182885765	C	T	intergenic	LINC00290,MGC45800	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr9	2185564	2185564	A	G	intronic	SMARCA2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5700062	-	LIRI-JP|1|258|0.00388	-	-	integument phenotype	Short stature|Schizophrenia, association with   |Nicholaides-Baraitser syndrome|Multiple congenital anomalies  |Lung cancer, association with|Intellectual disabilty, short stature and dysmorphisms|Hepatocellular carcinoma, in smokers, association with.|Hepatocellular carcinoma, association with.|Developmental delay & dysmorphic features|Developmental delay & autistic features|Developmental delay  |Coffin-Siris syndrome	COSMIC,COSMIC,ICGC,
chr19	54436425	54436425	A	G	intronic	CACNG7	unknown	SNV	-	-	-	0	-	-	-	-	-	COSN23887135	-	LAML-KR|1|205|0.00488	-	-	behavior/neurological phenotype	-	COSMIC,ICGC,
chr9	8518114	8518114	G	T	exonic	PTPRD	nonsynonymous	SNV	0.018	0.979	-	-	-	-	-	-	-	COSM754042	LUSC|1|178|0.00562	LUSC-US|1|194|0.00515	-	-	integument phenotype	Restless legs syndrome, association with|Ewing sarcoma	COSMIC,COSMIC,COSMIC,COSMIC,COSMIC,COSMIC,TCGA,ICGC,
chr5	421592	421592	C	T	intronic	AHRR	unknown	SNV	-	-	-	6.465e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	homeostasis/metabolism phenotype	Micropenis, association with|Male infertility, dioxin-related, association with|Male factor infertility, association with|Endometriosis susceptibility and severity, association with|Autism spectrum disorder	ICGC,
chr2	230480141	230480141	A	G	intronic	DNER	unknown	SNV	-	-	-	3.271e-05	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	behavior/neurological phenotype	-	ICGC,
chr4	14179345	14179345	A	G	intergenic	LINC01085,CPEB2-AS1	unknown	SNV	-	-	-	0.0582	rs78033101	-	0.0984425	-	0.087	COSN17998090	-	LAML-KR|2|205|0.00976,SKCA-BR|1|100|0.01000	-	-	-,-	-,-	COSMIC,ICGC,
chr4	185649890	185649890	T	C	intronic	CENPU	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr10	55994145	55994145	C	T	intronic	PCDH15	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	vision/eye phenotype	Usher syndrome II|Usher syndrome 1f|Usher syndrome 1|Lipid levels in hyperlipidaemia, association with|Hearing loss, non-syndromic|Deafness, non-syndromic, autosomal recessive|Deafness, non-syndromic |Deafness  	ICGC,
chr1	150997668	150997668	A	G	intronic	PRUNE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	embryogenesis phenotype	-	ICGC,
chr18	53321280	53321280	C	T	intergenic	TCF4,LOC101927273	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Rett syndrome, variant / Pitt-Hopkins syndrome|Pitt-Hopkins syndrome|Mental retardation and microcephaly|Mental retardation & facial anomalies|Intellectual disability, nonsyndromic|Intellectual disability and dysmorphisms|Intellectual disability|Fuchs endothelial corneal dystrophy, susceptibility to |Angelman syndrome,-	ICGC,
chr16	60796971	60796971	A	C	intergenic	LOC729159,CDH8	unknown	SNV	-	-	-	0.0209	rs75221929	-	0.0758786	-	0.022	-	-	LAML-KR|1|205|0.00488	-	-	-,integument phenotype	-,Learning disability  |Autism & learning disability 	ICGC,
chr15	40591421	40591421	G	A	exonic	PLCB2	synonymous	SNV	-	-	-	-	-	-	-	-	-	-	COAD|2|367|0.00545,COADREAD|2|489|0.00409	-	-	-	integument phenotype	-	TCGA,
chr22	37820786	37820786	C	T	intronic	ELFN2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1898734	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr8	77015951	77015958	GATAGATA	-	intergenic	HNF4G,LINC01111	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|2|67|0.02985	-	-	respiratory system phenotype,-	-,-	ICGC,
chr4	55242446	55242446	C	T	intergenic	PDGFRA,KIT	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24527283	-	GACA-CN|1|123|0.00813	-	-	integument phenotype,integument phenotype	Vitiligo vulgaris |Neuroectodermal tumours, association with|Imatinib resistance in hypereosinophilic syndrome|Hypereosinophilic syndrome|Gastrointestinal stromal tumour|Gastrointestinal stromal & other tumours |Diaphragmatic hernia, congenital |Cleft palate, isolated,Mastocytosis with haematologic disorder|Mastocytosis, diffuse cutaneous|Mastocytosis, diffuse cutaneous.|Piebaldism|Piebaldism and auburn hair|Piebaldism with cafe-au-lait macules & intertriginous freckling|Mastocytosis predisposition|Mastocytosis|Gastrointestinal tumour, stromal.|Gastrointestinal tumour, stromal|Gastrointestinal stromal tumour & mastocytosis|Gastrointestinal stromal tumors and urticaria pigmentosa|Altered miRNA:target gene mRNA duplex conformation |Acral melanoma, increased risk, association with|Achalasia, association with	COSMIC,ICGC,
chr21	21307196	21307196	T	C	intergenic	LOC101927797,LINC00320	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr1	100892672	100892672	G	A	intronic	CDC14A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-	-	ICGC,
chr3	172119945	172119945	T	C	intergenic	FNDC3B,GHSR	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17532334	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,skeleton phenotype	-,Short stature|Short normal stature|Reduced weight loss during fasting, association with|Obesity|Growth hormone deficiency, isolated|Decreased receptor expression|Constitutional delay of growth and puberty	COSMIC,ICGC,
chr16	49122949	49122949	G	A	intergenic	N4BP1,CBLN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	no phenotypic analysis,behavior/neurological phenotype	-,-	ICGC,
chr3	163989996	163989996	G	C	intergenic	LINC01192,SI	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26057196	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,Sucrase isomaltase deficiency	COSMIC,ICGC,
chr4	31779748	31779748	T	C	intergenic	PCDH7,NONE	unknown	SNV	-	-	-	0.0002	rs147404031	-	-	-	-	-	-	LAML-KR|1|205|0.00488	-	-	-,-	-,-	ICGC,
chr9	138538451	138538451	T	G	intergenic	GLT6D1,LCN9	unknown	SNV	-	-	-	0.0007	rs184931356	-	0.00319489	-	-	-	-	LAML-KR|1|205|0.00488	-	-	-,-	-,-	ICGC,
chr15	79354241	79354241	C	T	intronic	RASGRF1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	behavior/neurological phenotype	-	ICGC,
chr1	171034993	171034993	C	T	intergenic	MROH9,FMO3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,Trimethylaminuria|Reduced transcriptional activity|Reduced FMO activity|Reduced catalytic activity|Nicotine metabolism, association with|Increased catalytic activity|FMO3 variant|Trimethylaminuria, association with	ICGC,
chr2	68714343	68714343	C	A	intronic	APLF	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	hematopoietic system phenotype	Potential protein deficiency	ICGC,
chr17	45616184	45616184	G	A	intronic	NPEPPS	unknown	SNV	-	-	-	0.0001	rs772624050	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	integument phenotype	-	ICGC,
chr5	35837293	35837293	A	T	intergenic	SPEF2,IL7R	unknown	SNV	-	-	-	-	rs192580661	-	-	-	-	COSN17570138	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,hematopoietic system phenotype	-,Sarcoidosis, association with|non-Hodgkin lymphoma, association with|Multiple sclerosis, non-NMO, increased risk|Multiple sclerosis, increased risk, association with|Multiple sclerosis, association with|Immunodeficiency, severe combined, atypical|Immunodeficiency, severe combined|Immunodeficiency, primary  |Gastric cancer, increased risk, association with|Atopic dermatitis, association with|Acute graft versus host disease, association with	COSMIC,ICGC,
chr4	46243449	46243449	G	A	intergenic	GABRG1,GABRA2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,-	ICGC,
chrX	17981263	17981263	C	T	intergenic	RAI2,BEND2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Autism spectrum disorder|Potential protein deficiency	ICGC,
chr2	220162622	220162622	A	G	exonic	PTPRN	synonymous	SNV	-	-	-	-	-	-	-	-	-	-	-	LINC-JP|1|394|0.00254	-	-	immune system phenotype	-	ICGC,
chr14	70908961	70908961	T	C	intergenic	SYNJ2BP-COX16,ADAM21	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21377507	-	BRCA-EU|1|569|0.00176	-	-	-,normal phenotype	-,-	COSMIC,ICGC,
chr17	5352581	5352581	G	A	intronic	DHX33	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr3	41553153	41553153	A	-	intronic	ULK4	unknown	deletion	-	-	-	0.0558	rs113817490	-	0.052516	-	0.007	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Multiple sessile serrated adenoma|Multiple myeloma, increased risk	ICGC,
chr11	55332672	55332672	C	T	intergenic	OR4C15,OR4C16	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,Potential protein deficiency	ICGC,
chr19	45836536	45836536	C	T	intergenic	CKM,KLC3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	cardiovascular system phenotype,-	Muscle creatine kinase deficiency,-	ICGC,
chr17	60743832	60743832	C	T	exonic	MRC2	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM1290739	-	MELA-AU|1|183|0.00546	-	-	immune system phenotype	Schizophrenia	COSMIC,ICGC,
chr10	121847273	121847273	T	C	intergenic	MIR4682,PPAPDC1A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	ICGC,
chr1	92246540	92246540	G	A	intronic	TGFBR3	unknown	SNV	-	-	-	-	rs563647745	-	0.000199681	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Premature ovarian failure|Intracranial aneurysm |Aortic dilation	ICGC,
chr20	38820064	38820064	A	G	intergenic	LINC01370,MAFB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,Multicentric carpotarsal osteolysis|Intellectual and developmental disabilities|Cleft lip  	ICGC,
chr3	67154139	67154139	G	A	intergenic	KBTBD8,MIR4272	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr20	19918337	19918337	G	T	intronic	RIN2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN4779651	-	MALY-DE|1|241|0.00415	-	-	-	RIN2 syndrome|Macrocephaly, alopecia, cutis laxa & scoliosis	COSMIC,ICGC,
chr8	69875829	69875829	T	G	ncRNA_intronic	LOC100505718	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19163068	-	CLLE-ES|1|510|0.00196	-	-	-	-	COSMIC,ICGC,
chr19	50905466	50905466	G	T	exonic	POLD1	nonsynonymous	SNV	1.0	0.009	-	-	-	-	-	-	-	COSM6296013	-	LICA-CN|1|402|0.00249	-	-	integument phenotype	Altered level of single strand breaks|Colorectal adenoma/carcinoma|Mandibular hypoplasia, deafness and progeroid features	COSMIC,COSMIC,ICGC,
chr19	2755220	2755221	CT	-	UTR3	SGTA	unknown	deletion	-	-	-	-	-	-	-	-	-	COSN22864375	-	BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr7	53521967	53521967	A	T	intergenic	POM121L12,LINC01446	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9993426	-	OV-AU|1|93|0.01075	-	-	-,-	-,-	COSMIC,ICGC,
chr6	24142041	24142041	G	A	intronic	NRSN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr14	83551686	83551686	C	T	intergenic	LOC101928559,NONE	unknown	SNV	-	-	-	3.23e-05	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr15	54345266	54345266	G	A	intronic	UNC13C	unknown	SNV	-	-	-	-	rs190344050	-	0.000399361	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	behavior/neurological phenotype	Developmental delay  	ICGC,
chr17	26851530	26851530	G	A	exonic	FOXN1	nonsynonymous	SNV	0.258	0.54	4.102e-06	-	-	-	-	-	-	-	BLCA|1|396|0.00253	-	-	-	integument phenotype	Congenital alopecia with T-cell immunodeficiency|Foxn1 deficiency	TCGA,
chr2	25383946	25383946	G	T	UTR3	POMC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	integument phenotype	Substance dependence|Potential protein deficiency|POMC deficiency and diabetes mellitus, type 1.|Obesity, early-onset, association with|Obesity, association with|Obesity, adrenal insufficiency and red hair|Obesity, adrenal insufficiency and absence of red hair phenotype|Obesity & diabetes type 2, early-onset|Obesity|Adrenal insufficiency & early-onset obesity|Anorexia nervosa |Body mass index, association with|Decreased serum leptin levels in lean individuals|Glucocorticoid deficiency|Glucocorticoid deficiency.	ICGC,
chr6	117492782	117492782	C	T	intergenic	RFX6,VGLL2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,-	Diabetes, neonatal, with intestinal atresia|Prostate cancer, susceptibility to ,-	ICGC,
chr21	14352780	14352780	C	-	intergenic	NONE,ANKRD30BP2	unknown	deletion	-	-	-	0.2433	rs778869344	-	-	-	-	COSN18768351	-	-	-	-	-,-	-,-	COSMIC,
chr13	57317072	57317072	C	T	intergenic	MIR5007,PRR20A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|2|183|0.01093	-	-	-,-	-,-	ICGC,
chr2	136751948	136751948	C	T	ncRNA_intronic	LOC101928243	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr22	16423568	16423568	A	G	intergenic	POTEH,OR11H1	unknown	SNV	-	-	-	0.0010	rs2815895	-	-	-	-	-	-	LAML-KR|1|205|0.00488,LUSC-KR|1|170|0.00588	-	-	-,-	Potential protein deficiency,-	ICGC,
chrX	90824248	90824248	C	A	intergenic	PABPC5,PCDH11X	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16094815	-	PACA-CA|1|268|0.00373	-	-	-,-	-,Absent speech, intellectual disability & behavioural problems|Attention deficit hyperactivity disorder & obsessive compulsive disorder|Developmental dyslexia |Language delay, nonsyndromic 	COSMIC,ICGC,
chr4	186501745	186501745	G	A	intergenic	PDLIM3,SORBS2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Cardiomyopathy, hypertrophic |Cardiomyopathy, dilated,Schizophrenia	ICGC,
chr5	100259083	100259083	C	T	intergenic	ST8SIA4,SLCO4C1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	mortality/aging,-	-,-	ICGC,
chr22	16863969	16863969	-	C	intergenic	OR11H1,CCT8L2	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN23088121	-	-	-	-	-,-	-,Schizophrenia	COSMIC,
chr7	88797577	88797577	T	G	intronic	ZNF804B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr6	131704891	131704891	G	A	intergenic	AKAP7,ARG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	no phenotypic analysis,mortality/aging	-,Spastic paraplegia|Myocardial infarction, association with|Hyperargininaemia|Argininaemia|Arginase I deficiency with hyperammonaemia|Arginase I deficiency|Arginase deficiency	ICGC,
chr5	59386787	59386787	A	G	intronic	PDE4D	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5608232	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging	Psychomotor retardation, coarse facies & ocular anomalies|Intellectual disability syndrome with low body mass index & facial features|Acrodysostosis	COSMIC,ICGC,
chr20	51726789	51726789	A	G	intronic	TSHZ2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Schizophrenia	ICGC,
chr8	36651532	36651532	A	C	intronic	KCNU1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	reproductive system phenotype	Schizophrenia  	ICGC,
chrX	5466519	5466519	C	T	intergenic	LOC101928201,NLGN4X	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,Potential protein deficiency|Mental retardation|Kallmann syndrome and ichthyosis|Intellectual disability, short stature & hydrocephaly|Intellectual disability, Kallmann syndrome & ichthyosis|Intellectual disability, behavioural difficulties, ichthyosis & hypogonadotrophic hypogonadism|Intellectual disability, autism spectrum disorder & short stature|Developmental delay, hypospadias & ichthyosis|Developmental delay, autism spectrum disorder, micropenis & ichthyosis|Developmental delay  |Autism, association with|Autism and mental retardation|Autism 	ICGC,
chr21	21791536	21791536	A	G	intergenic	LOC101927797,LINC00320	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr11	18974537	18974537	C	T	intergenic	MRGPRX1,MRGPRX2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	7332052	7332052	C	T	intronic	SORCS2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr5	119364395	119364395	G	A	intergenic	FAM170A,PRR16	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr2	65553319	65553319	G	A	intronic	SPRED2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype	Childhood apraxia of speech	ICGC,
chr9	97378904	97378904	C	T	intronic	FBP1	unknown	SNV	-	-	-	6.505e-05	rs541233534	-	0.000399361	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	Fructose-1,6-bisphosphatase deficiency	ICGC,
chr12	42259422	42259422	-	A	intergenic	PDZRN4,GXYLT1	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN19554595	-	-	-	-	-,-	-,-	COSMIC,
chr1	22311286	22311286	A	G	intronic	CELA3B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6024724	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr2	83092625	83092625	A	G	intergenic	LOC1720,FUNDC2P2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr4	78469964	78469964	G	A	intronic	CXCL13	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21655128	-	BRCA-EU|1|569|0.00176	-	-	hematopoietic system phenotype	-	COSMIC,ICGC,
chr15	74368293	74368293	A	G	exonic	GOLGA6A	nonsynonymous	SNV	0.963	0.001	0.0681	0.1372	rs2018461	0.0174	0.0938498	-	-	COSM4595267	-	COCA-CN|3|321|0.00935,THCA-CN|1|50|0.02000,LICA-CN|4|402|0.00995,PACA-CA|2|268|0.00746,SKCA-BR|1|100|0.01000,LUSC-KR|1|170|0.00588	-	-	-	-	COSMIC,ICGC,
chr7	136599137	136599137	G	A	ncRNA_intronic	LOC349160	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr19	705436	705436	C	A	intergenic	PRSS57,PALM	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr5	103701106	103701106	G	A	intergenic	NUDT12,RAB9BP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	ICGC,
chr1	199793537	199793537	C	T	intergenic	LINC01222,NR5A2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,-	ICGC,
chr4	153176205	153176205	-	GTTT	intergenic	LOC100996286,FBXW7	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,integument phenotype	-,Renal cell cancer	ICGC,
chr7	49811837	49811837	A	G	intergenic	CDC14C,VWC2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26205349	-	PRAD-UK|1|140|0.00714	-	-	-,-	-,-	COSMIC,ICGC,
chr3	75721422	75721422	C	T	upstream	LINC00960	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19739134	-	COCA-CN|3|321|0.00935	-	-	-	-	COSMIC,COSMIC,COSMIC,ICGC,
chr22	45577537	45577537	C	A	intronic	NUP50	unknown	SNV	-	-	-	0.4355	rs9615056	-	0.415335	-	0.319	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	-	ICGC,
chr3	166879718	166879718	C	T	intergenic	BCHE,ZBBX	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Serum cholinesterase deficiency|Potential protein deficiency|Obesity and triglyceride levels, association with|Hypocholinesterasaemia|Fronto-temporal dementia, association with|Cholinesterasaemia|Butyrylcholinesterase variant|Butyrylcholinesterase deficiency|Addiction to crack cocaine, association with|Acholinesterasaemia,-	ICGC,
chr5	129977935	129977935	C	T	intergenic	CHSY3,HINT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,cellular phenotype	-,Axonal neuropathy with neuromyotonia	ICGC,
chr19	32118449	32118449	G	T	intergenic	THEG5,CTC-360P9.3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17936466	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	COSMIC,ICGC,
chr11	57466681	57466681	G	T	exonic	ZDHHC5	nonsynonymous	SNV	0.227	0.895	-	-	-	-	-	-	-	COSM928688	UCEC|1|248|0.00403	UCEC-US|1|250|0.00400	-	-	-	Schizophrenia	COSMIC,TCGA,ICGC,
chr4	134865847	134865847	A	T	intergenic	PCDH10,PABPC4L	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22347679	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging,-	Schizophrenia|Potential protein deficiency,Autism spectrum disorder  	COSMIC,ICGC,
chr3	16023851	16023851	T	C	intergenic	MIR563,GALNT15	unknown	SNV	-	-	-	0.4371	rs1548078	-	0.361621	-	0.449	-	-	LAML-KR|1|205|0.00488	-	-	-,-	-,-	ICGC,
chrX	89085145	89085145	C	T	intergenic	CPXCR1,TGIF2LX	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	ICGC,
chrX	75260031	75260031	G	A	intergenic	MAGEE2,PBDC1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Potential protein deficiency,-	ICGC,
chr21	47296893	47296893	G	T	intronic	PCBP3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5988197	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr7	19501952	19501952	T	-	intergenic	FERD3L,TWISTNB	unknown	deletion	-	-	-	0.0005	rs374472613	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	cellular phenotype,-	-,-	ICGC,
chr19	51606096	51606096	-	T	intronic	CTU1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	-	ICGC,
chr1	232005496	232005496	C	A	ncRNA_intronic	TSNAX-DISC1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21957094	-	BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr4	34547498	34547498	A	C	intergenic	NONE,ARAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr10	132736239	132736239	C	T	intergenic	GLRX3,MIR378C	unknown	SNV	-	-	-	0.1721	rs1655107	-	0.186701	-	0.246	-	-	LAML-KR|1|205|0.00488	-	-	mortality/aging,-	-,-	ICGC,
chr15	89883916	89883916	T	C	intergenic	POLG,MIR9-3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5402616	-	LIRI-JP|1|258|0.00388	-	-	integument phenotype,-	Mitochondrial DNA depletion syndrome.|Mitochondrial DNA depletion syndrome, myopathic|Mitochondrial DNA depletion syndrome, hepatocerebral|Mitochondrial DNA depletion syndrome, hepatic|Mitochondrial DNA depletion syndrome |Male subfertility, association with|Male infertility, association with.|Lactic acidosis|Jerky collitis|Isolated distal myopathy of upper limbs|Mitochondrial neurogastrointestinal encephalomyopathy-like syndrome|Mitochondrial recessive ataxia syndrome.|Oxidative phophorylation deficiency|Optic atrophy  |Neurodegenerative disease|Myopathy, polyneuropathy & ataxia|Myoclonic epilepsy of infancy|Myocerebrohepatopathy spectrum disorders|Muscle weakness, exercise intolerance, hearing loss, arhythmia|Multiple sclerosis-like features|Mitochondrial spinocerebellar ataxia and epilepsy.|Mitochondrial spinocerebellar ataxia and epilepsy|Intractable epilepsy, childhood-onset|Hereditary spinocerebellar ataxia with peripheral neuropathy|Fatigue, muscle complaints & dysarthria|Ataxic neuropathy|Ataxia, epilepsy & cataract|Alpers-like syndrome|Alpers-like hepatocerebral syndrome|Alpers-Huttenlocher syndrome|Alpers syndrome.|Alpers syndrome & seizures|Alpers syndrome |Acute liver failure ?|Breast cancer, protection against, association with |Cataracts / ovarian dysgenesis / distal muscle atrophy|Cerebellar ataxia & sensory neuropathy |Failure to thrive|Epilepsy and myoclonic jerks|Epilepsy  |Encephalopathy|Dravet syndrome|Distal myopathy with cachexia|Developmental delay and seizures|Depression, ataxia and cardiomyopathy|Complex I deficiency|Acute liver failure|Status epilepticus & epilepsy|Progressive external ophthalmoplegia with Parkinsonism|Progressive external ophthalmoplegia, modifer of|Proximal myopathy, ptosis, diplopia|SANDO|SANDO with dopamine-agonist responsive parkinsonism|Sensory ataxic neuropathy with dysarthria and ophthalmoparesis|Sensory neuropathy  |Sensory-ataxic neuropathy, ophthalmoplegia, dysarthria and gastroparesis|Sodium valproate-induced liver toxicity, association with|Progressive external ophthalmoplegia with encephalopathy|Progressive external ophthalmoplegia and parkinsonism|Parieto-occipital lobe epilepsy|Parkinson disease, association with|Parkinson disease, early-onset|Peripheral neuropathy, sensorineural hearing loss, tremor & intracranial calcifications|POLG deficiency|POLG-Parkinson disease|Progressive external ophthalmoplegia |Progressive external ophthalmoplegia & ataxia|Progressive external ophthalmoplegia & mental retardation|Progressive external ophthalmoplegia & parkinsonism,-	COSMIC,ICGC,
chr10	63534329	63534329	A	G	intergenic	C10orf107,ARID5B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6978116	-	PACA-AU|1|391|0.00256	-	-	-,mortality/aging	-,-	COSMIC,ICGC,
chr8	134281106	134281109	TCAC	-	intronic	NDRG1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|4|67|0.05970	-	-	mortality/aging	Neuropathy, hereditary motor and sensory, Lom-type|Charcot-Marie-Tooth disease 1|Charcot-Marie-Tooth disease	ICGC,
chr20	7633375	7633375	C	T	intergenic	MIR8062,HAO1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr12	30064426	30064426	G	C	intergenic	TMTC1,IPO8	unknown	SNV	-	-	-	0.4110	rs10843548	-	0.394569	-	0.341	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr12	23103391	23103391	T	C	intergenic	ETNK1,LOC101928441	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	ICGC,
chr19	51237234	51237234	G	A	intergenic	CLEC11A,GPR32	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-,-	Malarial anaemia, severe, protection against, association with,-	ICGC,
chr12	66981958	66981958	G	A	intronic	GRIP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype	Autism|Fraser syndrome|Schizophrenia and epilepsy	ICGC,
chr6	104223994	104223994	C	T	intergenic	GRIK2,HACE1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,tumorigenesis	Mental retardation, non-syndromic, autosomal recessive,Wilms tumour 	ICGC,
chr18	4416075	4416075	T	C	intronic	DLGAP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Schizophrenia  	ICGC,
chr7	144483985	144483985	G	A	intronic	TPK1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23293816	-	MALY-DE|1|241|0.00415	-	-	-	Thiamine pyrophosphokinase deficiency|Leigh-like disease|Colorectal cancer, increased risk, association with |Autism	COSMIC,ICGC,
chr7	62069582	62069582	T	G	intergenic	NONE,ZNF733P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	41546095	41546095	C	-	intronic	LIMCH1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408,PBCA-DE|1|499|0.00200	-	-	-	-	ICGC,
chr3	163106779	163106779	A	C	intergenic	LINC01192,SI	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,Sucrase isomaltase deficiency	ICGC,
chr17	67264441	67264441	T	C	intronic	ABCA5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging	-	ICGC,
chr22	20803427	20803427	A	C	intronic	KLHL22	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN14659895	-	PAEN-AU|1|52|0.01923	-	-	-	-	COSMIC,ICGC,
chr9	135650316	135650316	G	A	intronic	AK8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	reproductive system phenotype	-	ICGC,
chr11	123865483	123865483	C	T	intergenic	OR10S1,OR10G4	unknown	SNV	-	-	-	-	rs191107012	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Altered receptor function	ICGC,
chr10	20748321	20748321	A	T	intergenic	PLXDC2,MIR4675	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	nervous system phenotype,-	Pancreatic cancer ,-	ICGC,
chr5	148972418	148972418	C	T	intronic	ARHGEF37	unknown	SNV	-	-	-	3.229e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr5	64587120	64587120	T	C	intronic	ADAMTS6	unknown	SNV	-	-	4.274e-06	-	rs779545818	8.386e-06	-	-	-	COSN17711672	-	ESAD-UK|1|301|0.00332	-	-	-	Schizophrenia	COSMIC,ICGC,
chr21	17434541	17434541	C	T	intergenic	USP25,LINC00478	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16560094	-	-	-	-	hematopoietic system phenotype,-	-,-	COSMIC,
chr5	76707865	76707865	C	T	intronic	PDE8B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19329575	-	LICA-FR|1|252|0.00397	-	-	-	Striatal degeneration|Adrenocortical hyperplasia|Adrenocortical adenoma|Adrenal tumours|Adrenal hyperplasia	COSMIC,ICGC,
chr2	7658589	7658589	G	T	intergenic	LOC100506274,LOC101929551	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26521688	-	LICA-CN|1|402|0.00249	-	-	-,-	-,-	COSMIC,ICGC,
chr4	84064402	84064402	A	G	intergenic	PLAC8,COQ2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	hematopoietic system phenotype,-	-,Potential protein deficiency|OXPHOS deficiency|Nephrotic syndrome, steroid resistant?|Nephrotic syndrome, steroid resistant|Multiple system atrophy, increased risk, association with  |Multiple system atrophy  |Hypercholesterolaemia ?|Coenzyme Q10 deficiency	ICGC,
chr2	108957014	108957014	C	T	ncRNA_intronic	SULT1C2P1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr6	92553601	92553601	T	C	intergenic	CASC6,EPHA7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,nervous system phenotype	-,Development delay and dysmorphic features|Leukemia, risk, association with 	ICGC,
chr4	62579939	62579939	-	CACACACACACACACACACACACA	intronic	LPHN3	unknown	insertion	-	-	-	0.0136	-	-	-	-	-	COSN27322108	-	-	-	-	behavior/neurological phenotype	-	COSMIC,
chr7	24434698	24434698	G	T	intergenic	NPY,MPP6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	skeleton phenotype,-	Major depressive disorder, association with|Metabolic syndrome in coronary artery disease, association with|Schizophrenia, association with|Serum leptin levels, and waist-hip ratio, in women, association with.|Hypertension, association with|Huntington disease, age at onset, association with|Elevated plasma LDL, association with|Diabetes, type II,  in middle-aged subjects, association with|Coronary artery disease, association with|Altered response to growth factors, association with|Alcohol dependence, association with|Stress response,Autism	ICGC,
chr3	125891690	125891690	G	A	intronic	ALDH1L1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr13	89291220	89291220	A	T	intergenic	LINC00433,LINC00353	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr2	61476705	61476705	T	A	intronic	USP34	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7079109	-	PACA-AU|1|391|0.00256	-	-	-	Congenital heart disease 	COSMIC,ICGC,
chr11	78690067	78690067	A	C	intronic	TENM4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	-	ICGC,
chr4	69523020	69523020	T	A	intronic	UGT2B15	unknown	SNV	-	-	-	3.24e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Reduced oxazepam clearance, association with|Prostate cancer, association with|Lower activity, association with|Increased gene expression|Fat mass, association with|Altered gene expression in liver	ICGC,
chr20	55408191	55408191	G	A	intergenic	TFAP2C,BMP7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,integument phenotype	-,Hypospadias|Eye / skeletal anomalies	ICGC,
chr2	76528929	76528929	T	A	intergenic	GCFC2,LRRTM4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr3	169003989	169003989	C	G	intronic	MECOM	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1929944	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging	Decreased expression|Thrombocytopaenia with aplastic anaemia	COSMIC,COSMIC,ICGC,
chr2	184641199	184641199	G	A	intergenic	NUP35,ZNF804A	unknown	SNV	-	-	-	3.229e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Neurodevelopmental disease|Reduced cortical gray matter thickness|Schizophrenia and bipolar disorder, association with|Schizophrenia, association with  	ICGC,
chr17	35173841	35173841	C	-	intergenic	MRM1,LHX1	unknown	deletion	-	-	-	0.0066	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408,PBCA-US|1|186|0.00538	-	-	-,mortality/aging	-,Mayer-Rokitansky-Küster-Hauser syndrome |Mullerian aplasia	ICGC,
chr2	136366799	136366799	A	G	intronic	R3HDM1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1224823	-	LINC-JP|1|394|0.00254	-	-	-	-	COSMIC,ICGC,
chr5	13707007	13707007	G	A	intronic	DNAH5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Asthenozoospermia |Autism |Chronic rhinosinusitis and primary ciliary dyskinesia|Potential protein deficiency|Primary ciliary dyskinesia	ICGC,
chr15	74565819	74565819	T	A	intronic	CCDC33	unknown	SNV	-	-	-	0.0001	-	-	-	-	-	COSN7248440	-	ESAD-UK|1|301|0.00332,PACA-AU|1|391|0.00256	-	-	-	Anorectal malformation	COSMIC,ICGC,
chrX	117358659	117358659	G	A	intergenic	KLHL13,WDR44	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,normal phenotype	Peripheral neuropathy  ,-	ICGC,
chr10	20389351	20389351	G	A	intronic	PLXDC2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	nervous system phenotype	Pancreatic cancer 	ICGC,
chr1	219877213	219877213	T	A	intergenic	LYPLAL1,RNU5F-1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	Cirrhosis, nonalcoholic steatohepatitis-related,-	ICGC,
chr8	113962929	113962929	A	G	intronic	CSMD3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16759312	-	LIRI-JP|1|258|0.00388	-	-	-	Schizophrenia  |Colorectal cancer 	COSMIC,ICGC,
chr11	28971879	28971879	T	C	intergenic	MIR8068,KCNA4	unknown	SNV	-	-	-	3.23e-05	-	-	-	-	-	COSN8942496	-	ESAD-UK|1|301|0.00332	-	-	-,behavior/neurological phenotype	-,-	COSMIC,ICGC,
chr18	40203622	40203628	TAGATAG	-	ncRNA_intronic	LINC00907	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr11	35115164	35115164	G	A	intergenic	PDHX,LOC100507144	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	Pyruvate dehydrogenase defect|Pyruvate dehydrogenase complex deficiency,-	ICGC,
chr5	157699310	157699310	C	G	intergenic	CLINT1,LOC101927697	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	ICGC,
chr21	16650390	16650390	T	A	intergenic	NRIP1,USP25	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	reproductive system phenotype,hematopoietic system phenotype	Lung cancer, susceptibility to, association with,-	ICGC,
chr12	122077256	122077261	TTTATT	-	intronic	ORAI1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	integument phenotype	Atopic dermatitis, association with|Severe combined immune deficiency syndrome|Tubular myopathy & miosis	ICGC,
chr22	43130189	43130189	-	TAAAATAAAATAAAG	intergenic	A4GALT,ARFGAP3	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging,-	Pk synthase deficiency (p phenotype)|NOR polyagglutination|Histo-blood group variant (P1/P2),-	ICGC,
chr6	97326677	97326677	C	A	intergenic	GPR63,NDUFAF4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,Complex 1 deficiency	ICGC,
chr13	105488423	105488423	T	A	intergenic	MIR548AS,DAOA-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr3	56784697	56784697	-	T	intronic	ARHGEF3	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|4|71|0.05634	-	-	-	-	ICGC,
chr10	66985843	66985843	C	A	intergenic	ANXA2P3,LOC101928913	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20598496	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr18	4333502	4333502	G	A	intronic	DLGAP1	unknown	SNV	-	-	-	6.524e-05	-	-	-	-	-	COSN17216473	-	PACA-CA|1|268|0.00373	-	-	-	Schizophrenia  	COSMIC,ICGC,
chr3	31050588	31050588	C	T	intergenic	GADL1,STT3B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Congenital disorder of glycosylation  |Schizophrenia	ICGC,
chr13	56792833	56792833	C	T	intergenic	MIR5007,PRR20A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	62646633	62646633	T	C	intergenic	IPO11,HTR1A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,mortality/aging	-,Tourette syndrome |Reduced expression|Personality disorders, association with.|Menstrual cycle-dependent fever|Major depression and suicide, association with|Major depression|Impulsive behaviour, association with|Epileptic seizures |Comorbid depression and generalized anxiety, association with|Attenuated agonist-mediated receptor down-regulation and desensitization	ICGC,
chr1	165013975	165013975	T	A	intergenic	PBX1,LMX1A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype,integument phenotype	Schizophrenia,-	ICGC,
chr21	20810076	20810076	C	T	intergenic	LOC101927797,LINC00320	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr10	84788125	84788125	A	C	intergenic	NRG3,GHITM	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Schizophrenia, association with |Increased ventrolateral PFC activation|Hirschsprung disease  ,-	ICGC,
chr3	98364259	98364259	T	G	intergenic	CPOX,ST3GAL6-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1975176	-	LIRI-JP|1|258|0.00388	-	-	-,-	Harderoporphyria|Coproporphyria|Atypical porphyrinogenic response to mercury, association with,-	COSMIC,ICGC,
chr8	114493025	114493025	A	G	intergenic	CSMD3,TRPS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	Schizophrenia  |Colorectal cancer ,Tricho-rhino-phalangeal syndrome with supernumerary teeth|Tricho-rhino-phalangeal syndrome III|Tricho-rhino-phalangeal syndrome I|Tricho-rhino-phalangeal syndrome|Infantile scoliosis & developmental delay|Femoral neck width, association with|Ambras syndrome	ICGC,
chr9	25292782	25292782	C	A	intergenic	IZUMO3,TUSC1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7563742	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	COSMIC,ICGC,
chr8	59902972	59902972	-	TTTA	intronic	TOX	unknown	insertion	-	-	-	0.0043	rs548596900	-	0.00139776	-	-	-	-	PRAD-UK|1|140|0.00714	-	-	hematopoietic system phenotype	Pulmonary tuberculosis, association  with	ICGC,
chr8	111361730	111361730	C	T	intergenic	KCNV1,CSMD3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,-	-,Schizophrenia  |Colorectal cancer 	ICGC,
chr4	138742857	138742857	C	G	intergenic	PCDH18,LINC00616	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22691893	-	BRCA-EU|1|569|0.00176	-	-	-,-	Intellectual disability  ,-	COSMIC,ICGC,
chr14	42496088	42496088	G	A	intergenic	LRFN5,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Short stature|Developmental delay, seizures & learning problems ,-	ICGC,
chr3	22623835	22623835	T	G	intergenic	ZNF385D-AS2,UBE2E2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20713960	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr5	76125057	76125057	-	T	intronic	F2RL1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	integument phenotype	Atopy, association with	ICGC,
chr3	164801950	164801950	C	T	intergenic	SI,SLITRK3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	Sucrase isomaltase deficiency,-	ICGC,
chr6	156783160	156783160	C	T	intergenic	NOX3,ARID1B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	behavior/neurological phenotype,-	-,Schizophrenia|Nicolaides-Baraitser syndrome|Intellectual disability, plantar fat pads & facial dysmorphism|Intellectual disability, corpus callosum abnormalities, speech impairment & autism|Intellectual disability & speech impairment|Intellectual disability & agenesis of corpus callossum|Intellectual disability  |Developmental delay, dysmorphic features, dysgenesis of the corpus callosum, limb anomalies & genital hypoplasia|Coffin-Siris syndrome|Autism?|Autism spectrum disorder|Autism	ICGC,
chr14	39208146	39208146	G	A	intergenic	CLEC14A,LINC00639	unknown	SNV	-	-	-	6.472e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr22	17116240	17116240	A	G	ncRNA_intronic	TPTEP1	unknown	SNV	-	-	-	0.0017	-	-	-	-	-	COSN18843528	-	SKCA-BR|1|100|0.01000	-	-	-	-	COSMIC,ICGC,
chr3	164296525	164296547	TCATTTTCTAACTTATAAAATAA	-	intergenic	LINC01192,SI	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,Sucrase isomaltase deficiency	ICGC,
chrX	55269448	55269448	G	A	intergenic	PAGE5,PAGE3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	49337767	49337767	G	T	intronic	FSHR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype	Ovarian hyperstimulation syndrome|Ovarian hyperstimulation syndrome, association with|PCOS, association|PCOS, association with|Poor ovarian response to gonadotrophin stimulation, association|Premature ovarian failure|Premature ovarian failure, association with|Premature ovarian failure, early-onset|Primary amenorrhea|Reduced mRNA and protein expression, association with|Secondary amenorrhea|Serum FSH levels, association with|Sterility|Twinning, dizygotic|Ovarian hyperstimulation response, association with|Ovarian cancer, association with|Ovarian cancer susceptibility, association with|Decr. total testes volume and altered serum reproductive hormone levels, in men, association with.|Decreased promoter activity|Endometriosis risk, association with|Endometriosis, risk, association with|FSHR activation|FSHR inactivation|Hormone levels in PCOS, association with|Hypergonadotropic hypogonadism|Menstrual cycle, length, association with|Lower basal FSH level, association with|Increased serum FSH levels, association with|Increased promoter activity|Hypertension, female, association with|Hypergonadotropic ovarian failure	ICGC,
chr1	79135640	79135640	C	A	intergenic	IFI44,ELTD1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26886010	-	UTCA-FR|1|20|0.05000	-	-	-,normal phenotype	-,-	COSMIC,ICGC,
chr14	40739076	40739076	A	C	intergenic	FBXO33,LOC644919	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr1	89154208	89154208	G	A	intronic	PKN2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-	-	ICGC,
chr4	52942979	52942979	C	T	exonic	SPATA18	nonsynonymous	SNV	0.036	0.001	4.109e-06	-	rs757456389	8.353e-06	-	-	-	-	BLCA|1|396|0.00253	-	-	-	-	-	TCGA,
chr7	151093263	151093263	G	A	exonic	WDR86	stopgain	SNV	-	-	4.094e-06	-	rs757152750	8.593e-06	-	-	-	COSM5725594	-	-	-	-	-	-	COSMIC,COSMIC,
chr6	47504121	47504121	A	G	intronic	CD2AP	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15696348	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging	Glomerulosclerosis, focal segmental|Nephrotic syndrome 	COSMIC,ICGC,
chr1	71594826	71594826	T	A	ncRNA_intronic	ZRANB2-AS2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-AU|1|391|0.00256	-	-	-	-	ICGC,
chr5	12300971	12300971	T	A	intergenic	CTNND2,LINC01194	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2066291	-	LIRI-JP|1|258|0.00388	-	-	behavior/neurological phenotype,-	Schizophrenia  |Lennox-Gastaut syndrome |Autism spectrum disorder|Anorectal malformation|Altered localisation,-	COSMIC,COSMIC,ICGC,
chr6	133988171	133988171	A	T	ncRNA_intronic	EYA4-AS1	unknown	SNV	-	-	-	0.0011	rs189019650	-	0.00159744	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr15	61709618	61709618	C	A	intergenic	RORA,VPS13C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	integument phenotype,-	Obesity,Schizophrenia  	ICGC,
chr7	10131888	10131888	A	C	intergenic	PER4,NDUFA4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23004217	-	PAEN-IT|1|37|0.02703	-	-	-,-	-,Complex I deficiency|Cytochrome c oxidase deficiency	COSMIC,COSMIC,ICGC,
chr2	48992857	48992857	C	T	intronic	STON1-GTF2A1L	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr12	116386374	116386374	G	A	intergenic	TBX3,MED13L	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype,-	Ulnar-mammary syndrome,Intellectual disability, nonsyndromic, no cardiac involvement|Hypotonia, learning difficulties & perimembranous ventricular septal defect|Hypotonia, intellectual disability, conotruncal heart defect & facial anomalies|Congenital heart defect|Colorectal cancer, increased risk, association with |Autism	ICGC,
chr5	26988798	26988798	C	T	intronic	CDH9	unknown	SNV	-	-	-	0.4892	rs3811919	-	0.322284	-	0.348	-	-	ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488	-	-	-	-	ICGC,
chr3	124635747	124635747	G	A	intronic	MUC13	unknown	SNV	-	-	-	0.0238	rs144650709	-	0.00978435	-	0.058	-	-	ESAD-UK|1|301|0.00332	-	-	-	Ulcerative colitis, association with	ICGC,
chr5	29864344	29864344	C	T	intergenic	LOC101929681,CDH6	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16602528	-	PACA-CA|1|268|0.00373	-	-	-,renal/urinary system phenotype	-,-	COSMIC,ICGC,
chr9	111934611	111934611	-	G	UTR3	EPB41L4B	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN17078417	-	-	-	-	-	-	COSMIC,
chr7	119261222	119261222	G	A	intergenic	ANKRD7,KCND2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Epilepsy, temporal lobe	ICGC,
chr3	34947812	34947812	G	A	ncRNA_intronic	LOC101928135	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr11	61513943	61513943	C	T	UTR3	DAGLA	unknown	SNV	-	-	-	3.235e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	cellular phenotype	-	ICGC,
chr4	76399095	76399095	A	C	intergenic	LOC441025,RCHY1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,cellular phenotype	-,-	ICGC,
chr9	14259149	14259149	T	C	intronic	NFIB	unknown	SNV	-	-	-	-	rs1322989	-	-	-	-	COSN6382381	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging	Agenesis of corpus callosum 	COSMIC,ICGC,
chr13	56432626	56432626	C	T	intergenic	MIR5007,PRR20A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr5	14020634	14020634	C	T	intergenic	DNAH5,TRIO	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging,mortality/aging	Asthenozoospermia |Autism |Chronic rhinosinusitis and primary ciliary dyskinesia|Potential protein deficiency|Primary ciliary dyskinesia,Autism|Intellectual disability	ICGC,
chr3	193796520	193796520	G	A	intergenic	LOC647323,HES1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,mortality/aging	-,-	ICGC,
chr14	46125457	46125457	G	A	intergenic	MIS18BP1,LINC00871	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN4757516	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	COSMIC,ICGC,
chr1	44058103	44058103	A	G	intronic	PTPRF	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21628943	-	BRCA-EU|1|569|0.00176	-	-	integument phenotype	Breast cancer, non-BRCA1/BRCA2 related|Obesity, reduced risk, association with|Schizophrenia	COSMIC,ICGC,
chr12	79541500	79541500	T	G	intronic	SYT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging	-	ICGC,
chr16	23234729	23234729	C	T	intergenic	SCNN1G,SCNN1B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,mortality/aging	Pseudohypoaldosteronism 1|Potential protein deficiency|Liddle syndrome.|Liddle syndrome|Hypertension|Gain of function|Decreased systolic and pulse pressure, association|Bronchiectasis,Reduced aldosterone excretion, association with|Pseudohypoaldosteronism, multi-system|Pseudohypoaldosteronism 1|Liddle syndrome|Hypertension, association with|Hypertension|Cystic fibrosis, non-classic|Bronchiectasis	ICGC,
chr14	41294829	41294829	G	A	intergenic	FBXO33,LOC644919	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	62582438	62582438	-	A	intronic	LPHN3	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	behavior/neurological phenotype	-	ICGC,
chr4	158645739	158645739	CC	TT	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr2	18947049	18947049	C	T	intergenic	NT5C1B-RDH14,MIR4757	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	102995377	102995377	T	C	intergenic	ZPLD1,MIR548A3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Cerebral cavernous malformations,-	ICGC,
chr4	1526325	1526325	G	T	intergenic	NKX1-1,FAM53A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27842995	-	UTCA-FR|1|20|0.05000	-	-	-,-	-,-	COSMIC,COSMIC,ICGC,
chr12	72595159	72595159	G	A	intergenic	TPH2,TRHDE-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Unipolar major depression, association with|Tryptophan hydroxylase 2 deficiency|Suicide, association with |Reduced promoter activity|Increased mRNA expression |Increased amygdala activity|Bipolar affective disorder, association with|Attention-deficit/hyperactivity disorder, association with.|Attention deficit hyperactivity disorder|Alternative splicing|Altered gene expression,-	ICGC,
chr4	116502786	116502786	A	-	intergenic	NDST4,MIR1973	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	ICGC,
chr19	50638563	50638565	CTC	-	intergenic	SNAR-B2,SNAR-B1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-,-	-,-	ICGC,
chr20	7280902	7280902	G	A	intergenic	LINC01428,LOC101929312	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr10	14583573	14583573	G	A	intronic	FAM107B	unknown	SNV	-	-	-	3.232e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	skeleton phenotype	-	ICGC,
chr10	107563764	107563764	G	A	ncRNA_intronic	LOC101927549	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr7	18610069	18610069	A	T	intronic	HDAC9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	mortality/aging	Peters' anomaly |Immunodeficiency, common variable, association with  	ICGC,
chr2	185416914	185416914	A	G	intergenic	NUP35,ZNF804A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	-,Neurodevelopmental disease|Reduced cortical gray matter thickness|Schizophrenia and bipolar disorder, association with|Schizophrenia, association with  	ICGC,
chr3	26696755	26696755	G	T	intronic	LRRC3B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	nervous system phenotype	-	ICGC,
chr7	114416049	114416049	A	C	intergenic	FOXP2,MDFIC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	Verbal dyspraxia, dysmorphism and developmental delay|Verbal apraxia & dysarthria|Verbal apraxia|Speech impairment, developmental delay & congenital anomalies|Speech disorder, global development & psychomotor delay|Mental retardation, dysmorphia and language delay|Left opercular polymicrogyria|Dyspraxia and language delay|Developmental verbal dyspraxia|Childhood apraxia of speech|Autism spectrum disorder ,-	ICGC,
chr11	32623967	32623967	-	T	UTR3	CCDC73,EIF3M	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN19660192	-	-	-	-	-,-	-,-	COSMIC,
chr12	81254006	81254006	C	T	intronic	LIN7A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging	Intellectual disability in 12q21 deletion syndrome	ICGC,
chrX	97143995	97143995	T	G	intergenic	DIAPH2,XRCC6P5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23294563	-	MALY-DE|1|241|0.00415	-	-	cardiovascular system phenotype,-	Premature ovarian failure,-	COSMIC,ICGC,
chr2	6776243	6776243	C	T	intergenic	LINC01246,MIR7515HG	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr14	40878038	40878038	C	T	intergenic	FBXO33,LOC644919	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr7	88495485	88495485	T	G	intronic	ZNF804B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|2|301|0.00664	-	-	-	-	ICGC,
chr21	35507701	35507701	A	T	intronic	MRPS6	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24960243	-	LICA-FR|1|252|0.00397	-	-	-	-	COSMIC,ICGC,
chrX	34775860	34775860	C	A	intergenic	TMEM47,FAM47B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-AU|1|391|0.00256	-	-	-,-	Intellectual disability & language delay,Potential protein deficiency	ICGC,
chr10	118699224	118699224	C	G	intronic	KIAA1598	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr15	64322846	64322846	A	G	intronic	DAPK2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-	-	ICGC,
chr19	49837290	49837290	G	A	intergenic	SLC6A16,CD37	unknown	SNV	-	-	-	3.234e-05	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,hematopoietic system phenotype	-,-	ICGC,
chr8	111495718	111495718	T	G	intergenic	KCNV1,CSMD3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	behavior/neurological phenotype,-	-,Schizophrenia  |Colorectal cancer 	ICGC,
chr1	64022930	64022930	T	C	intronic	EFCAB7	unknown	SNV	-	-	0	-	-	-	-	-	-	COSN15660403	-	-	-	-	-	-	COSMIC,
chr1	165760745	165760745	-	AAA	intergenic	TMCO1,UCK2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|3|67|0.04478	-	-	-,-	Cerebrofaciothoracic dysplasia|Craniofacial dysmorphism, skeletal anomalies & mental retardation|TMCO1 defect syndrome,-	ICGC,
chr1	71268346	71268346	G	A	intergenic	CTH,PTGER3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|3|183|0.01639	-	-	mortality/aging,integument phenotype	Hyperhomocysteinemia|Cystathioninuria|Cystathionine elevations |Altered homocysteine levels,-	ICGC,
chr2	136070670	136070670	G	A	intronic	ZRANB3	unknown	SNV	-	-	-	3.388e-05	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	-	ICGC,
chr6	73678507	73678507	A	T	intronic	KCNQ5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	Schizophrenia	ICGC,
chr7	62929782	62929782	C	T	intergenic	LOC100287834,MIR4283-2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr4	74157906	74157906	G	A	intergenic	ANKRD17,ALB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	mortality/aging,mortality/aging	-,Dysalbuminaemic hyperthyroxinaemia, familial|Bisalbuminaemia|Analbuminaemia|Albumin variant	ICGC,
chr10	118021038	118021038	G	T	intronic	GFRA1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26424710	-	PRAD-UK|1|140|0.00714	-	-	integument phenotype	Urinary tract malformation|Hirschsprung disease |Central hypoventilation syndrome 	COSMIC,ICGC,
chr7	29769658	29769658	G	A	intergenic	DPY19L2P3,WIPF3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,reproductive system phenotype	-,-	ICGC,
chr18	53159296	53159296	C	T	intronic	TCF4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Rett syndrome, variant / Pitt-Hopkins syndrome|Pitt-Hopkins syndrome|Mental retardation and microcephaly|Mental retardation & facial anomalies|Intellectual disability, nonsyndromic|Intellectual disability and dysmorphisms|Intellectual disability|Fuchs endothelial corneal dystrophy, susceptibility to |Angelman syndrome	ICGC,
chr4	68885122	68885122	C	T	intergenic	TMPRSS11GP,TMPRSS11F	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr11	21639638	21639638	C	G	intergenic	NELL1,ANO5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	Crohn disease, association with,Persistent asymptomatic hyperCKemia|Myopathy of posterior calf muscles, late-onset|Myopathy / muscular dystrophy|Myopathy  |Muscular dystrophy, limb girdle 2L.|Muscular dystrophy, limb girdle 2L|Muscular dystrophy  |Miyoshi-like distal myopathy|Miyoshi myopathy, non-dysferlin|Miyoshi distal myopathy.|Miyoshi distal myopathy|Gnathodiaphyseal dysplasia|Autism 	ICGC,
chr7	148410050	148410050	A	-	intronic	CUL1	unknown	deletion	-	-	-	0.0003	rs532870335	-	-	-	-	-	-	PRAD-CA|1|308|0.00325,PACA-CA|1|268|0.00373	-	-	mortality/aging	-	ICGC,
chr13	58066493	58066493	A	C	intergenic	PRR20A,PCDH17	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr4	179982712	179982712	A	C	intergenic	LINC01098,LINC00290	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr4	3002800	3002800	-	TATATATA	intronic	GRK4	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	normal phenotype	Reduced transcriptional activity|Potential protein deficiency|Increased transcriptional activity|Essential hypertension, association with|Altered activity	ICGC,
chr22	31526917	31526917	A	C	intronic	INPP5J	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17992757	-	SKCA-BR|1|100|0.01000	-	-	-	-	COSMIC,ICGC,
chr22	46611088	46611088	C	T	exonic	PPARA	nonsynonymous	SNV	0.002	0.994	-	-	rs766483864	8.246e-06	-	-	-	COSM3063380	SKCM|2|368|0.00543	SKCM-US|2|335|0.00597,MELA-AU|1|183|0.00546	-	-	integument phenotype	Stage C heart failure, association with|Non-alcoholic fatty liver disease and obesity, association with|Lower total cholesterol, association with|Elevated plasma lipid concentration, association in diabetes|Elevated apoAI concentration, association in diabetes|Dyslipidemia, association with|Diabetes |Decreased mortality, in diabetics with coronary ischaemia, association	COSMIC,TCGA,ICGC,
chr2	192530262	192530272	AGCTGGTGACT	-	intergenic	MYO1B,NABP1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr1	80839963	80839963	G	A	intergenic	ELTD1,LPHN2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	normal phenotype,mortality/aging	-,Schizophrenia	ICGC,
chr20	45583929	45583929	C	T	intronic	EYA2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr18	18736558	18736558	C	T	intergenic	ROCK1,GREB1L	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Potential protein deficiency|Tetralogy of Fallot, predisposition to,Potential protein deficiency	ICGC,
chr3	6347556	6347556	G	A	intergenic	MIR4790,LOC101927347	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr11	127378845	127378845	G	A	intergenic	LOC101929497,ETS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,mortality/aging	-,Systemic lupus erythematosus, association with	ICGC,
chr6	51369469	51369469	A	T	intergenic	TFAP2B,PKHD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	NKTL-SG|1|50|0.02000	-	-	integument phenotype,mortality/aging	Patent ductus arteriosus|Nonsyndromic patent ductus arteriosus|Neonatal temperament, association with|Increased expression, association with|Female alcoholism, severe, association with|Endocardial cushion defect|Diabetes, type 2, asssociation with|Char syndrome|Cardiac defects,Renal cystic disease and hepatic fibrosis.|Protection against colorectal cancer|Polycystic kidney disease |Caroli disease	ICGC,
chr10	112036882	112036882	G	C	intronic	MXI1	unknown	SNV	-	-	-	0.2318	rs12256505	-	0.216653	-	0.225	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	-	ICGC,
chr3	55841874	55841874	T	C	intronic	ERC2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	vision/eye phenotype	-	ICGC,
chr2	235062398	235062398	C	A	intergenic	SPP2,ARL4C	unknown	SNV	-	-	-	0.0574	rs62184306	-	0.0954473	-	0.058	-	-	LAML-KR|2|205|0.00976	-	-	-,-	Autism,-	ICGC,
chr4	164587571	164587571	C	T	intronic	MARCH1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	hematopoietic system phenotype	-	ICGC,
chr3	850994	850994	G	A	ncRNA_intronic	LINC01266	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN56172	-	-	-	-	-	-	COSMIC,
chr15	78083257	78083257	G	A	intergenic	LOC101929478,LOC645752	unknown	SNV	-	-	-	-	rs772395963	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	175455792	175455792	C	T	intronic	NAALADL2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr1	189645281	189645281	A	G	intergenic	NONE,BRINP3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	161538345	161538345	G	A	intergenic	OTOL1,LINC01192	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr12	88332398	88332398	A	T	intergenic	MKRN9P,C12orf50	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19268291	-	CLLE-ES|1|510|0.00196	-	-	-,-	-,-	COSMIC,ICGC,
chr5	86227528	86227528	G	A	intergenic	LOC100505878,MIR4280	unknown	SNV	-	-	-	0.0002	rs536098655	-	0.000199681	-	-	COSN15069624	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr8	8381340	8381340	-	TATA	intergenic	SGK223,CLDN23	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	Potential protein deficiency,-	ICGC,
chr1	78399995	78399995	C	T	intronic	NEXN	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Atrial septal defect |Cardiomyopathy, dilated|Cardiomyopathy, hypertrophic	ICGC,
chr2	181559571	181559571	T	C	ncRNA_intronic	SCHLAP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-	-	ICGC,
chr3	109304237	109304237	C	T	intergenic	LINC01205,PVRL3-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr6	103345285	103345285	A	T	intergenic	GRIK2,HACE1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	EOPC-DE|1|202|0.00495	-	-	behavior/neurological phenotype,tumorigenesis	Mental retardation, non-syndromic, autosomal recessive,Wilms tumour 	ICGC,
chr5	11500168	11500168	C	T	intronic	CTNND2	unknown	SNV	-	-	-	0.0010	rs563576380	-	0.000798722	-	-	-	-	PBCA-US|1|186|0.00538	-	-	behavior/neurological phenotype	Schizophrenia  |Lennox-Gastaut syndrome |Autism spectrum disorder|Anorectal malformation|Altered localisation	ICGC,
chr13	54555696	54555696	C	T	intergenic	LINC00558,LINC00458	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr17	71613934	71613934	A	C	intronic	SDK2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr6	166272073	166272073	A	T	intergenic	PDE10A,LINC00473	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	behavior/neurological phenotype,-	-,-	ICGC,
chr11	91298492	91298492	G	C	intergenic	DISC1FP1,FAT3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,vision/eye phenotype	-,Autism spectrum disorder	ICGC,
chr13	34215456	34215456	G	A	intronic	STARD13	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Schizophrenia	ICGC,
chr10	42419856	42419856	G	-	intergenic	NONE,LOC441666	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	ICGC,
chr6	169467404	169467406	CAC	-	intergenic	SMOC2,THBS2	unknown	deletion	-	-	-	0.0004	-	-	-	-	-	COSN18983270	-	CLLE-ES|1|510|0.00196	-	-	-,integument phenotype	Dental developmental defects|Oligodontia ,Myocardial infarction, protection, association |Lumbar-disc herniation, association with	COSMIC,ICGC,
chr5	40532423	40532423	A	G	intergenic	LINC00603,PTGER4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Crohn's disease, association with 	ICGC,
chr2	24646266	24646266	C	T	intergenic	ITSN2,NCOA1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	Autism,Altered tamoxifen response	ICGC,
chr2	125697215	125697215	G	T	intergenic	CNTNAP5,GYPC	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26279078	-	PRAD-UK|1|140|0.00714	-	-	-,-	Autism,Glycophorin C variant|Gerbich-negative blood group|Elliptocytosis|Duch blood group	COSMIC,ICGC,
chr11	90180351	90180351	C	T	ncRNA_intronic	DISC1FP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr13	88598557	88598557	C	T	intergenic	LINC00397,LINC00433	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr8	87996938	87996938	T	A	intronic	CNBD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr2	218811012	218811012	C	T	intergenic	TNS1,CXCR2P1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	reproductive system phenotype,-	-,-	ICGC,
chr9	86851278	86851278	C	A	intergenic	LOC101927575,SLC28A3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24694464	-	GACA-CN|1|123|0.00813	-	-	-,-	-,Reduced sodium-binding capacity	COSMIC,ICGC,
chr12	19244243	19244243	C	T	intergenic	CAPZA3,PLEKHA5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	reproductive system phenotype,reproductive system phenotype	-,-	ICGC,
chrX	141400940	141400940	G	A	intergenic	MAGEC2,SPANXN4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	169602676	169602676	C	T	intronic	CERS6	unknown	SNV	-	-	-	0.0844	rs76884671	-	0.0551118	-	0.036	-	-	LAML-KR|1|205|0.00488	-	-	-	-	ICGC,
chr5	133159516	133159516	C	T	intergenic	FSTL4,C5orf15	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	normal phenotype,-	Saccular intracranial aneurysm, association with|Tetralogy of Fallot,-	ICGC,
chr6	127270943	127270943	A	-	intergenic	NONE,RSPO3	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,mortality/aging	-,-	ICGC,
chr3	42341157	42341157	A	-	intergenic	CCK,LYZL4	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	RECA-EU|1|422|0.00237	-	-	endocrine/exocrine gland phenotype,-	Panic disorder, protection against, association with|Panic disorder, association with,-	ICGC,
chr1	114632531	114632531	T	C	UTR3	SYT6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	normal phenotype	-	ICGC,
chr10	125032036	125032036	G	C	intergenic	BUB3,GPR26	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21179622	-	ESAD-UK|1|301|0.00332,BRCA-EU|1|569|0.00176	-	-	integument phenotype,behavior/neurological phenotype	Variegated aneuploidy,-	COSMIC,ICGC,
chr2	165207595	165207595	C	T	intergenic	FIGN,GRB14	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25117540	-	MALY-DE|1|241|0.00415	-	-	integument phenotype,hematopoietic system phenotype	-,-	COSMIC,ICGC,
chr3	62893812	62893812	C	T	intergenic	CADPS,LINC00698	unknown	SNV	-	-	-	3.272e-05	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,-	-,-	ICGC,
chr1	195217458	195217458	A	G	intergenic	CDC73,KCNT2	unknown	SNV	-	-	-	-	rs192976881	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	integument phenotype,-	Potential protein deficiency|Parathyroid carcinoma/adenoma|Parathyroid carcinoma.|Parathyroid carcinoma|Parathyroid cancer|Parathyroid adenoma.|Parathyroid adenoma |Hyperparathyroidism, primary.|Hyperparathyroidism, primary|Hyperparathyroidism, isolated|Hyperparathyroidism-jaw tumour syndrome.|Hyperparathyroidism-jaw tumour syndrome,-	ICGC,
chrX	112362983	112362983	G	A	ncRNA_intronic	LOC101928437	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr7	53097082	53097082	T	C	intergenic	COBL,POM121L12	unknown	SNV	-	-	-	0.0004	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	nervous system phenotype,-	-,-	ICGC,
chr5	128827378	128827378	A	G	intronic	ADAMTS19	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	CMDI-UK|1|136|0.00735	-	-	-	-	ICGC,
chr11	66254113	66254113	G	T	exonic	DPP3	stopgain	SNV	-	-	-	-	-	-	-	-	-	COSM6014516	-	-	-	-	-	Autism	COSMIC,
chrX	141063244	141063244	C	T	intergenic	MAGEC1,MAGEC2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN4788081	-	MALY-DE|1|241|0.00415	-	-	-,-	Prostate cancer, predisposition to,-	COSMIC,ICGC,
chr13	91809609	91809609	G	A	ncRNA_intronic	LINC00379	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr4	75562683	75562683	G	A	intergenic	AREG,BTC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,mortality/aging	-,Altered promoter activity|Diabetes, type 1, protection against, association with |Diabetes, type 2, susceptibility, association with 	ICGC,
chr3	74025796	74025796	-	T	intergenic	PDZRN3-AS1,CNTN3	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr11	119901318	119901318	C	G	intergenic	LOC102724301,TRIM29	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22772342	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr2	21223774	21223774	C	T	downstream	APOB	unknown	SNV	-	-	-	0.0597	rs61400250	-	0.0792732	-	-	COSN17972705	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging	Hypocholesterolaemia, association with|Hypocholesterolaemia|Hypobetalipoproteinemia-induced nonalcoholic steatohepatitis|Hypobetalipoproteinaemia.|Hypobetalipoproteinaemia|Hypertriglyceridaemia |Hypocholesterolaemia, steatosis and liver cancer|Increased apoB and cholesterol levels, association with|Increased cholesterol levels|Increased LDL cholesterol levels|Ischaemic stroke, association with |Oligoasthenoteratozoospermia, association with|Oxidised low-density lipoprotein levels, association with|Total cholesterol levels, association with|Hypercholesterolemia, association with|Hypercholesterolaemia, association with|Altered APOB levels |Altered binding affinity|Aortic stenosis, association with|Apolipoprotein B deficiency|Cerebrovascular disease events, association with|Coronary artery disease, association with|Coronary heart disease|Coronary heart disease, association with|Hypercholesterolaemia ?|Hypercholesterolaemia|Hepatitis C virus infection, association with|HDL cholesterol, association with |Diabetes, MODY|Decreased bone mineral density	COSMIC,ICGC,
chr8	82684174	82684174	A	G	intergenic	CHMP4C,SNX16	unknown	SNV	-	-	-	0.0081	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr5	111615997	111615997	G	A	exonic	EPB41L4A	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM366532	SKCM|1|368|0.00272	SKCM-US|1|335|0.00299	-	-	-	-	COSMIC,TCGA,ICGC,
chr5	3050509	3050509	T	C	intergenic	C5orf38,LINC01377	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2101669	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,COSMIC,ICGC,
chr3	184881110	184881110	C	T	ncRNA_intronic	EHHADH-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN18797033	-	-	-	-	-	-	COSMIC,
chr21	45623566	45623566	G	T	intergenic	C21orf33,ICOSLG	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,hematopoietic system phenotype	-,-	ICGC,
chr14	54005735	54005735	C	T	intergenic	LOC101927620,MIR5580	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr9	87893990	87893990	C	T	intergenic	NTRK2,AGTPBP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	mortality/aging,vision/eye phenotype	Anxiety-related traits, association with|Obesity, hyperphagia, and developmental delay,-	ICGC,
chr10	107746537	107746537	G	A	intergenic	LOC101927549,SORCS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN18823753	-	-	-	-	-,other phenotype	-,Autism 	COSMIC,
chr9	87063915	87063915	T	A	intergenic	SLC28A3,NTRK2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16474197	-	LIRI-JP|1|258|0.00388	-	-	-,mortality/aging	Reduced sodium-binding capacity,Anxiety-related traits, association with|Obesity, hyperphagia, and developmental delay	COSMIC,ICGC,
chr7	2577780	2577780	T	-	exonic	BRAT1	frameshift	deletion	-	-	-	-	-	-	-	-	-	-	STAD|1|395|0.00253,STES|1|395|0.00253	-	-	-	-	Lethal neonatal rigidity & seizure syndrome	TCGA,
chrX	21319306	21319306	C	T	intergenic	RPS6KA3,CNKSR2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Mental retardation, non-specific|Intellectual disability, X-linked & Coffin-Lowry syndrome|Intellectual disability, X-linked|Coffin-Lowry syndrome|Autism,Intellectual disability, X-linked non-syndromic	ICGC,
chr10	89865334	89865334	A	G	intergenic	PTEN,RNLS	unknown	SNV	-	-	-	0.2011	rs56221718	-	0.136382	-	0.138	-	-	ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488	-	-	integument phenotype,cardiovascular system phenotype	Macrocephaly |Lhermitte-Duclos disease|Juvenile polyposis coli|Increased expression|Hypoglycaemia, macrocephaly, developmental delay, short stature and coagulopathy |Hyperplastic polyps and tubular adenomas|Hamartoma tumour syndrome|Gorham-Stout phenomenon|Gastrointestinal polyposis|Gastric cancer, association with|Macrocephaly, hypotonia & learning disabilities|Macrocephaly, ventriculomegaly, VATER association|PTEN hamartoma-tumour syndrome with systemic lupus erythematosus|PTEN hamartoma-tumour syndrome|PTEN hamartoma tumour syndrome|Proteus-like syndrome|Proteus syndrome|Neurodevelopmental disorders and macrocephaly without autism|Neurodevelopmental disorders and macrocephaly with autism|Multiple cancers|Mental retardation  |Squamous cell carcinoma|Diabetes, type 2, association with|Developmental delay and macrocephaly|Breast cancer|Bannayan-Zonana syndrome|Bannayan-Riley-Ruvalcaba syndrome, with cortical dysplasia|Bannayan-Riley-Ruvalcaba syndrome|Autism-epilepsy with macrocephaly|Autism spectrum disorders, developmental delay and macrocephaly|Autism spectrum disorder and macrocephaly|Autism spectrum disorder |Autism|Breast cancer, lower age of diagnosis, association with|Breast cancer.|Complex atypical hyperplasia|Developmental delay  |Cowden/Bannayan syndrome.|Cowden syndrome|Cowden disease with neuroblastoma|Cowden disease and vascular anomalies|Cowden disease / Sjogren's syndrome|Cowden disease|Cowden / Cowden-like syndrome with thyroid cancer|Cowden / Bannayan-Riley-Ruvalcaba syndromes,Paediatric cataract |Essential hypertension in Han Chinese, association with|Cardiac hypertrophy, dysfunction & ischemia, association with	ICGC,
chr6	114435588	114435588	A	G	intergenic	HS3ST5,FRK	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,homeostasis/metabolism phenotype	-,Potential protein deficiency	ICGC,
chr1	234449028	234449028	G	A	intronic	SLC35F3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr1	74937828	74937828	C	T	intronic	FPGT-TNNI3K,TNNI3K	unknown	SNV	0.135	-	0.0271	0.0379	rs3765675	0.0330	0.0740815	-	0.022	COSM3997658	-	COCA-CN|1|321|0.00312,LAML-KR|2|205|0.00976	-	-	-,-	-,Potential protein deficiency	COSMIC,COSMIC,ICGC,
chr2	176817230	176817230	C	A	intronic	KIAA1715	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|2|301|0.00664	-	-	mortality/aging	-	ICGC,
chr4	135283793	135283793	G	A	intergenic	PABPC4L,LINC00613	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Autism spectrum disorder  ,-	ICGC,
chr2	68461851	68461851	T	C	intronic	PPP3R1	unknown	SNV	-	-	-	-	rs544623645	-	0.000599042	-	-	-	-	COCA-CN|1|321|0.00312	-	-	mortality/aging	-	ICGC,
chr4	190563552	190563559	ATAAATAA	-	intergenic	LINC01060,LINC01262	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chrX	34937273	34937273	C	A	intergenic	TMEM47,FAM47B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	Intellectual disability & language delay,Potential protein deficiency	ICGC,
chr2	179455034	179455034	G	T	exonic	TTN	nonsynonymous	SNV	0.001	1.0	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	mortality/aging	Muscular dystrophy, limb girdle 2J|Myopathy|Myopathy with cellular aggregates|Potential protein deficiency|Tibial muscular dystrophy|Titinopathy|Muscular dystrophy  |Limb girdle muscular dystrophy 2J|Arrhythmogenic right ventricular cardiomyopathy|Arthrogryposis multiplex congenita with axoglial defects|Cardiac dysrhythmia|Cardiomyopathy, dilated|Cardiomyopathy, hypertrophic|Centronuclear myopathy	ICGC,
chr14	106908784	106908784	T	G	intergenic	LINC00226,LINC00221	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	ICGC,
chr10	17857965	17857965	G	A	intronic	MRC1	unknown	SNV	-	-	-	0.0001	-	-	-	-	-	-	-	EOPC-DE|1|202|0.00495	-	-	mortality/aging	Leprosy, protection against, association with	ICGC,
chrX	93968424	93968424	A	G	intergenic	FAM133A,LOC643486	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20221162	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	COSMIC,ICGC,
chr3	85474998	85474998	A	T	intronic	CADM2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	-	ICGC,
chr11	62619629	62619629	G	A	ncRNA_exonic	SNHG1	unknown	SNV	-	-	-	0.3245	rs4034	-	0.391973	-	0.333	COSN20499385	-	COCA-CN|1|321|0.00312,ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488	-	-	-	-	COSMIC,ICGC,
chr2	85909119	85909119	A	C	intergenic	SFTPB,GNLY	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5961769	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging,-	Surfactant protein B deficiency, partial|Surfactant protein B deficiency|Reduced transcription|Reduced lung function + COPD in smokers, association with|Pulmonary alveolar proteinosis|Interstitial lung disease|Increased promoter activity|Acute respiratory distress syndrome, association with,-	COSMIC,ICGC,
chr7	125023045	125023045	C	A	intergenic	LOC101928283,GRM8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,behavior/neurological phenotype	-,Attention deficit hyperactivity disorder|Autism spectrum disorder  	ICGC,
chr22	19732396	19732396	T	A	intergenic	SEPT5-GP1BB,TBX1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Ventricular septal defect, association with|Ventricular septal defect|Velocardiofacial syndrome|Tetralogy of Fallot|Pulmonary atresia  |Orofacial clefting |Midline facial defects with hypertelorism |Indirect inguinal hernia|Immunodeficiency, common variable, association with|DiGeorge syndrome/Velocardiofacial syndrome|DiGeorge syndrome|Conotruncal anomaly face syndrome|Cardiovascular defects|Atrioventricular septal defect|22q11.2 deletion syndrome features	ICGC,
chr1	98713204	98713204	C	T	ncRNA_intronic	LOC729987	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr10	6206191	6206191	-	CAAGCTC	intronic	PFKFB3	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|2|67|0.02985	-	-	mortality/aging	-	ICGC,
chr10	105742004	105742004	C	T	intronic	SLK	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	Autism spectrum disorder	ICGC,
chr8	43783556	43783556	G	A	intergenic	POTEA,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CN|1|65|0.01538	-	-	-,-	-,-	ICGC,
chr5	49575147	49575147	C	T	intergenic	NONE,EMB	unknown	SNV	-	-	-	3.23e-05	rs555669149	-	0.000199681	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr12	5697161	5697161	G	C	intronic	ANO2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20802082	-	BRCA-EU|1|569|0.00176	-	-	taste/olfaction phenotype	-	COSMIC,ICGC,
chr12	55596312	55596312	C	T	intergenic	OR9K2,OR10A7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr4	62326423	62326423	G	A	intergenic	NONE,LPHN3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,behavior/neurological phenotype	-,-	ICGC,
chr2	79681961	79681961	C	A	intergenic	REG3A,LOC101927987	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	homeostasis/metabolism phenotype,-	-,-	ICGC,
chr20	42611934	42611934	C	T	intronic	TOX2	unknown	SNV	-	-	-	3.235e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr4	161740073	161740073	C	T	intergenic	RAPGEF2,FSTL5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24373012	-	-	-	-	integument phenotype,-	-,Schizophrenia  |Rolandic epilepsy 	COSMIC,
chr1	23189568	23189568	G	T	exonic	EPHB2	stopgain	SNV	-	-	-	-	-	-	-	-	-	-	BLCA|1|396|0.00253	-	-	-	mortality/aging	Prostate cancer, increased risk, in African Americans, association with|Colorectal cancer |Autism 	TCGA,
chr7	131424431	131424431	G	A	intergenic	PODXL,LOC101928782	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Focal and segmental glomerulosclerosis,-	ICGC,
chr10	173938	173938	C	T	intergenic	TUBB8,ZMYND11	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,Autism |Schizophrenia  	ICGC,
chr18	36504712	36504712	A	G	intergenic	MIR4318,LINC00669	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr17	13716439	13716439	C	T	intergenic	HS3ST3A1,CDRT15P1	unknown	SNV	-	-	-	3.284e-05	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-,-	-,-	ICGC,
chr6	154273040	154273040	A	G	intergenic	RGS17,OPRM1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,integument phenotype	-,Striatal dopamine response to alcohol|Post-operative pain response, association with|Pressure pain sensitivity in females, association with|Proinflammatory cytokine levels and health perception, association with|Reduced agonist potency|Reduced agonist potency, association with|Reduced expression|Reduced promoter activity|Smoking behaviour, increased susceptibility|Pain perception, association with|Increased promoter activity|Impaired receptor signalling|Addiction, association with|Altered beta-endorphin binding, association with|Altered reinforcement learning, association with|Altered trafficking and/or signalling|Decreased body mass index, association with|Decreased receptor expression|Drug intake, association with |Epilepsy|Epilepsy, association with 	ICGC,
chr18	57411166	57411166	C	T	intergenic	CCBE1,PMAIP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,mortality/aging	Lymph vessel dysplasia|Lymphoedema-cholestasis syndrome|Lymphoedema, primary.,Altered p53 binding	ICGC,
chr7	53127349	53127349	A	C	intergenic	POM121L12,LINC01446	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6885913	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr13	70495427	70495427	T	G	intronic	KLHL1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN4706781	-	BRCA-UK|1|141|0.00709,BRCA-EU|1|569|0.00176	-	-	behavior/neurological phenotype	Breast cancer, increased risk  	COSMIC,COSMIC,ICGC,
chr5	64492968	64492968	T	A	exonic	ADAMTS6	nonsynonymous	SNV	0.668	0.003	-	-	-	-	-	-	-	COSM6171649	-	-	-	-	-	Schizophrenia	COSMIC,COSMIC,
chr4	100444178	100444178	T	C	intronic	C4orf17	unknown	SNV	-	-	-	0.2494	rs10021082	-	0.41873	-	0.377	-	-	PEME-CA|1|112|0.00893,LAML-KR|1|205|0.00488	-	-	-	-	ICGC,
chr18	35830539	35830539	T	C	intergenic	MIR4318,LINC00669	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr12	56531608	56531608	C	T	intronic	ESYT1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSM5922963	-	-	-	-	-	-	COSMIC,COSMIC,
chr6	26292766	26292766	G	A	intergenic	HIST1H4H,BTN3A2	unknown	SNV	-	-	-	3.231e-05	rs545759434	-	0.000199681	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr1	190641569	190641569	G	A	ncRNA_intronic	LOC440704	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr6	97077189	97077189	T	C	intergenic	FHL5,GPR63	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25703299	-	EOPC-DE|1|202|0.00495	-	-	reproductive system phenotype,-	-,-	COSMIC,ICGC,
chr2	35090725	35090725	G	T	intergenic	MYADML,LOC100288911	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21895762	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr6	29262810	29262810	G	A	intergenic	OR2J2,OR14J1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Altered receptor function,-	ICGC,
chr14	27808053	27808053	G	A	intergenic	LOC101927081,LINC00645	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24714723	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	COSMIC,ICGC,
chr7	5533093	5533093	A	T	intronic	FBXL18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	Schizophrenia	ICGC,
chr4	10648575	10648575	G	C	intronic	CLNK	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	hematopoietic system phenotype	Immunodeficiency, common variable, association with	ICGC,
chr3	101745111	101745120	TAGAAATATT	-	intergenic	LOC152225,ZPLD1	unknown	deletion	-	-	-	0	-	-	-	-	-	-	-	NKTL-SG|1|50|0.02000	-	-	-,-	-,Cerebral cavernous malformations	ICGC,
chr5	23510141	23510141	G	A	intronic	PRDM9	unknown	SNV	-	-	-	-	-	-	-	-	-	COSM5912337	-	-	-	-	reproductive system phenotype	Altered meiotic recombination hotspot usage|Azoospermia by meiotic arrest, association with |Azoospermia, non-obstructive 	COSMIC,
chr4	137303345	137303345	C	T	intergenic	LINC00613,PCDH18	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27861948	-	UTCA-FR|1|20|0.05000	-	-	-,-	-,Intellectual disability  	COSMIC,ICGC,
chr2	166041362	166041362	A	G	intronic	SCN3A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26941072	-	UTCA-FR|1|20|0.05000	-	-	mortality/aging	Autism spectrum disorder|Epilepsy, cryptogenic pediatric partial|Epilepsy, focal  	COSMIC,ICGC,
chr4	161324125	161324125	C	T	intergenic	RAPGEF2,FSTL5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype,-	-,Schizophrenia  |Rolandic epilepsy 	ICGC,
chr8	36900894	36900894	C	T	intergenic	KCNU1,LOC100507420	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	reproductive system phenotype,-	Schizophrenia  ,-	ICGC,
chr16	27214585	27214585	C	G	upstream	KDM8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	integument phenotype	-	ICGC,
chr4	17453548	17453548	A	G	intergenic	LDB2,QDPR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	normal phenotype,skeleton phenotype	-,Dihydropteridine reductase deficiency|Phenylketonuria	ICGC,
chrX	2037571	2037571	G	A	intergenic	ASMT,DHRSX	unknown	SNV	-	-	-	0.0009	rs780674830	-	0.000399361	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	Potential protein deficiency|Lower enzyme activity|Bipolar disorder, association with|Bipolar disorder  |Autism spectrum disorder, association with|Autism spectrum disorder  |Altered enzyme activity,-	ICGC,
chr13	74965963	74965963	C	T	intergenic	KLF12,LINC00381	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	225577010	225577010	G	A	intronic	DNAH14	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21253323	-	BRCA-EU|1|569|0.00176	-	-	-	Potential protein deficiency	COSMIC,ICGC,
chr5	140242486	140242486	C	T	intronic	PCDHA1,PCDHA10,PCDHA2,PCDHA3,PCDHA4,PCDHA5,PCDHA6,PCDHA7,PCDHA8,PCDHA9	unknown	SNV	-	-	-	-	-	-	-	-	-	COSM5510104	STAD|2|395|0.00506,STES|2|395|0.00506	BTCA-JP|1|239|0.00418,PBCA-DE|1|499|0.00200	-	-	normal phenotype,-,-,-,-,-,-,-,-,-	-,Protocadherin deficiency,-,Restless legs syndrome ,-,-,-,-,-,-	COSMIC,COSMIC,COSMIC,COSMIC,TCGA,ICGC,
chr7	126085725	126085725	G	T	intronic	GRM8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	behavior/neurological phenotype	Attention deficit hyperactivity disorder|Autism spectrum disorder  	ICGC,
chr6	123389929	123389929	G	A	UTR3	CLVS2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr1	167796408	167796408	T	-	intronic	ADCY10	unknown	deletion	-	-	-	0.0041	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	reproductive system phenotype	Absorptive hypercalciuria, association with|Asthenozoospermia 	ICGC,
chr7	108639697	108639697	T	C	intergenic	C7orf66,EIF3IP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	UTCA-FR|1|20|0.05000	-	-	-,-	-,-	ICGC,
chr5	148896148	148896148	A	C	intronic	CSNK1A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	RECA-EU|1|422|0.00237	-	-	-	-	ICGC,
chr21	17483347	17483347	G	A	ncRNA_intronic	LINC00478	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr1	152401530	152401530	A	T	intergenic	CRNN,LCE5A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1089485	-	LINC-JP|1|394|0.00254	-	-	-,-	-,Potential protein deficiency	COSMIC,ICGC,
chr4	111668361	111668361	A	T	intergenic	PITX2,C4orf32	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Ring dermoid of the cornea|Rieger syndrome|Peter anomaly|Omphalocele, association with |Omphalocele|Iris hypoplasia|Iridogoniodysgenesis syndrome|Craniofacial/acallosal CNS midline defects|Axenfeld-Rieger syndrome|Anterior segment dysgenesis,-	ICGC,
chr8	138641280	138641280	C	T	intergenic	KHDRBS3,FAM135B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr4	43078204	43078204	G	T	intergenic	GRXCR1,KCTD8	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19072086	-	CLLE-ES|1|510|0.00196	-	-	behavior/neurological phenotype,-	Hearing impairment, nonsyndromic, autosomal recessive,-	COSMIC,ICGC,
chr3	64885173	64885173	G	T	ncRNA_intronic	ADAMTS9-AS2,MIR548A2	unknown	SNV	-	-	-	3.267e-05	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	ICGC,
chr3	180551462	180551462	G	A	ncRNA_intronic	LOC101928882	unknown	SNV	-	-	-	9.691e-05	rs192307269	-	0.000199681	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr13	55000661	55000661	C	T	intergenic	MIR1297,MIR5007	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chrX	14851166	14851166	C	T	intergenic	GLRA2,FANCB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	-,Fanconi anaemia|VACTERL with Fanconi anaemia|VACTERL-H	ICGC,
chr2	38063670	38063670	C	A	ncRNA_intronic	LINC00211	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-	-	ICGC,
chr18	70567733	70567733	C	T	intergenic	NETO1,LOC400655	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	behavior/neurological phenotype,-	-,-	ICGC,
chr6	30986446	30986446	C	T	intronic	MUC22	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr6	70502475	70502475	T	A	intronic	LMBRD1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19027048	-	CLLE-ES|1|510|0.00196	-	-	-	Methylmalonic aciduria & homocystinuria, cblF type	COSMIC,ICGC,
chr3	54419547	54419547	C	T	intronic	CACNA2D3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Autism 	ICGC,
chr1	177850629	177850629	A	T	intergenic	LOC101928778,SEC16B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,homeostasis/metabolism phenotype	-,-	ICGC,
chr5	106292886	106292886	T	A	ncRNA_intronic	LOC102467213	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2058492	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr12	11149954	11149954	A	C	exonic	TAS2R20	nonsynonymous	SNV	0.001	0.999	-	-	-	-	-	-	-	COSM213882	-	-	-	-	-	-	COSMIC,
chr8	51936612	51936612	-	A	intergenic	SNTG1,PXDNL	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	Autism|Intellectual disability, cleft palate, hearing loss and dysmorphisms,-	ICGC,
chr7	34016079	34016079	T	C	intronic	BMPER	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25628382	-	MALY-DE|1|241|0.00415	-	-	mortality/aging	Diaphanospondylodysostosis	COSMIC,ICGC,
chr8	72443817	72443817	C	G	intergenic	EYA1,MSC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	mortality/aging,mortality/aging	Oto-facio-cervical syndrome|Peters' anomaly with cataracts|Renal hypodysplasia|Renal malformation|Ureteropelvic junction obstruction and reduced renal function|Iris anomaly|Hearing loss?|Deafness  |Cayler's cardiofacial syndrome|Cataract, autosomal dominant|Branchio-oto-renal syndrome|Branchio-oto-renal / branchiootic syndrome|Branchio-otic syndrome,-	ICGC,
chr5	19989035	19989035	G	T	intronic	CDH18	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6287104	-	LIRI-JP|1|258|0.00388	-	-	-	Anorectal malformation	COSMIC,ICGC,
chr3	161306922	161306922	C	T	intergenic	OTOL1,LINC01192	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr13	42767080	42767080	G	C	intronic	DGKH	unknown	SNV	-	-	-	0.2540	rs9533029	-	0.195088	-	0.261	-	-	ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488	-	-	-	-	ICGC,
chr3	18956809	18956809	G	A	intergenic	SATB1,KCNH8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	-,-	ICGC,
chr4	176307500	176307500	A	G	intergenic	ADAM29,GPM6A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17692334	-	ESAD-UK|1|301|0.00332	-	-	-,reproductive system phenotype	-,Claustrophobia, association with	COSMIC,ICGC,
chr9	135768382	135768382	C	A	UTR3	TSC1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	-	Tuberous_sclerosis_syndrome|Focal_cortical_dysplasia_type_II	-	integument phenotype	Lymphangioleiomyomatosis|Periungual fibroma|Respiratory disease, aspirin-exacerbated, association with|Tuberous sclerosis	ClinVar,
chr11	76006214	76006214	T	A	intergenic	WNT11,PRKRIR	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25073811	-	MALY-DE|1|241|0.00415	-	-	mortality/aging,-	-,-	COSMIC,ICGC,
chr7	57467427	57467427	C	T	intergenic	GUSBP10,MIR3147	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	35551386	35551386	G	A	intergenic	PRLR,SPEF2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	integument phenotype,mortality/aging	Benign breast tumours, association with|Hyperprolactinaemia,-	ICGC,
chr4	20307211	20307211	C	T	intronic	SLIT2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Schizophrenia  	ICGC,
chr18	3613407	3613407	G	C	intronic	DLGAP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CN|1|65|0.01538	-	-	-	Schizophrenia  	ICGC,
chr2	230640844	230640847	ATCT	-	intronic	TRIP12	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging	Autism 	ICGC,
chr11	17880502	17880502	C	T	intronic	SERGEF	unknown	SNV	-	-	-	3.232e-05	rs757776660	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr2	140330133	140330133	A	G	intergenic	YY1P2,LRP1B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|2|301|0.00664	-	-	-,mortality/aging	-,Schizophrenia   	ICGC,
chr19	54053013	54053013	A	G	intronic	ZNF331	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr12	115746465	115746465	C	A	intergenic	TBX3,MED13L	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,-	Ulnar-mammary syndrome,Intellectual disability, nonsyndromic, no cardiac involvement|Hypotonia, learning difficulties & perimembranous ventricular septal defect|Hypotonia, intellectual disability, conotruncal heart defect & facial anomalies|Congenital heart defect|Colorectal cancer, increased risk, association with |Autism	ICGC,
chr9	6548278	6548278	C	T	intronic	GLDC	unknown	SNV	-	-	-	0.1469	rs12685035	-	0.153554	-	0.196	-	-	LAML-KR|1|205|0.00488	-	-	mortality/aging	Hyperglycinaemia, non-ketotic |Hyperglycinaemia, transient neonatal|Neural tube defects	ICGC,
chr9	44839877	44839877	C	T	intergenic	LOC101927827,FAM27C	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22037453	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr2	132697815	132697815	G	T	intergenic	C2orf27B,ANKRD30BL	unknown	SNV	-	-	-	3.228e-05	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chrX	51840317	51840317	T	C	intergenic	MAGED4,MAGED4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6727020	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr20	42018172	42018172	C	T	intergenic	PTPRT,SRSF6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	homeostasis/metabolism phenotype,-	Intellectual disability, behavioural problems, microcephaly & cardiac defect|Attention deficit hyperactivity disorder ,-	ICGC,
chr3	61043000	61043000	A	G	intronic	FHIT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	-	ICGC,
chr3	118803986	118803986	A	G	intronic	IGSF11	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LAML-KR|1|205|0.00488	-	-	-	-	ICGC,
chr22	30325415	30325415	C	T	intronic	MTMR3	unknown	SNV	-	-	-	6.469e-05	rs775251299	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	homeostasis/metabolism phenotype	-	ICGC,
chr22	33611381	33611381	T	A	intergenic	SYN3,LARGE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	cellular phenotype,mortality/aging	Schizophrenia, association with ,Alpha-dystroglycanopathy |Autism, non-complex|Fukushima congenital muscular dystrophy|Muscular dystrophy, congenital 1D|Walker-Warburg syndrome|Walker-Warburg syndrome.	ICGC,
chr7	119076059	119076059	A	G	intergenic	ANKRD7,KCND2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	-,Epilepsy, temporal lobe	ICGC,
chr6	24344058	24344058	G	A	intronic	DCDC2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	behavior/neurological phenotype	Respiratory disease, aspirin-exacerbated|Reading and language Impairment, association with|Dyslexia, association with	ICGC,
chr10	91669678	91669678	C	T	intergenic	LINC00865,LINC01375	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	22861722	22861722	G	A	intergenic	ZNF385D-AS2,UBE2E2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr6	130096596	130096596	C	T	intergenic	ARHGAP18,TMEM244	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|2|100|0.02000	-	-	mortality/aging,-	-,-	ICGC,
chr2	241814690	241814690	C	T	intronic	AGXT	unknown	SNV	-	-	-	0.0337	rs13430507	-	0.0796725	-	0.029	-	-	LAML-KR|2|205|0.00976,LUSC-KR|1|170|0.00588	-	-	homeostasis/metabolism phenotype	Hyperoxaluria|Hyperoxaluria, association with	ICGC,
chr9	25839812	25839812	T	C	intergenic	LINC01241,LOC100506422	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr2	59420285	59420285	G	A	intergenic	LINC01122,LOC101927285	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	5314728	5314728	G	A	intergenic	AJAP1,MIR4417	unknown	SNV	-	-	-	6.457e-05	rs529007556	-	0.000199681	-	-	COSN7223466	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	COSMIC,ICGC,
chr5	2654229	2654229	A	T	intergenic	LOC100506858,IRX2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21266895	-	BRCA-EU|1|569|0.00176	-	-	-,normal phenotype	-,-	COSMIC,ICGC,
chr12	66355941	66355941	G	A	intronic	HMGA2	unknown	SNV	-	-	-	6.459e-05	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype	Uterine leiomyomata, increased risk, association with|Somatic overgrowth and lipomas|Short stature, failure to thrive & speech delay|Short stature & failure to thrive|Short stature & developmental delay|Short stature|Mental retardation  |Lower number of permanent teeth erupted, association with |Infant head circumference, association with|Increased height, association with|Growth hormone deficiency |Bone mineral density, association with	ICGC,
chr1	194112345	194112345	C	T	intergenic	CDC73,KCNT2	unknown	SNV	-	-	-	-	rs28405496	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Potential protein deficiency|Parathyroid carcinoma/adenoma|Parathyroid carcinoma.|Parathyroid carcinoma|Parathyroid cancer|Parathyroid adenoma.|Parathyroid adenoma |Hyperparathyroidism, primary.|Hyperparathyroidism, primary|Hyperparathyroidism, isolated|Hyperparathyroidism-jaw tumour syndrome.|Hyperparathyroidism-jaw tumour syndrome,-	ICGC,
chr8	76788243	76788243	G	A	intergenic	HNF4G,LINC01111	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	respiratory system phenotype,-	-,-	ICGC,
chr1	198733270	198733270	T	C	intergenic	PTPRC,MIR181A1HG	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	Variant CD45 expression|Multiple sclerosis|Immunodeficiency, severe combined|Hepatitis C, protection against, association with.|Defective splicing|Altered immune function,-	ICGC,
chr3	50425258	50425258	C	T	intronic	CACNA2D2	unknown	SNV	-	-	-	0.0012	rs587758754	-	0.000199681	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging	Epileptic encephalopathy, early infantile|Schizophrenia  	ICGC,
chr8	21090201	21090201	T	C	intergenic	LOC286114,LOC101929172	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr1	110194255	110194255	A	G	intergenic	AMPD2,GSTM4	unknown	SNV	-	-	-	0.6061	rs686163	-	0.610024	-	0.645	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	Pontocerebellar hypoplasia, AMPD2-related|Spastic paraplegia 63,Altered splicing|Reduced promoter activity	ICGC,
chr2	191251801	191251801	G	A	intergenic	INPP1,MFSD6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	immune system phenotype,-	-,-	ICGC,
chr18	3023466	3023466	C	T	intergenic	LPIN2,MYOM1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19447418	-	-	-	-	-,-	Diabetes, type 2, association with |Majeed syndrome|Psoriasis,Cardiomyopathy, hypertrophic|Potential protein deficiency	COSMIC,
chr17	21347578	21347578	G	A	intergenic	KCNJ12,C17orf51	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	hematopoietic system phenotype,-	-,-	ICGC,
chr12	128508430	128508430	C	T	intergenic	LINC00507,LOC100996679	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr7	135286256	135286256	G	A	splicing	NUP205	splicing	SNV	-	-	-	-	-	-	-	-	-	-	STAD|1|395|0.00253,STES|1|395|0.00253	-	-	-	-	-	TCGA,
chr4	104923456	104923456	G	A	intergenic	TACR3,CXXC4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21189294	-	BRCA-EU|1|569|0.00176	-	-	behavior/neurological phenotype,-	Kallmann syndrome|Hypogonadotropic hypogonadism,-	COSMIC,ICGC,
chr7	34278684	34278684	C	A	intergenic	BMPER,NPSR1-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22068126	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging,-	Diaphanospondylodysostosis,-	COSMIC,ICGC,
chr7	151623801	151623801	G	A	intergenic	PRKAG2-AS1,GALNTL5	unknown	SNV	-	-	-	0.0174	rs79119858	-	0.0071885	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,Autism, non-complex|Asthenozoospermia 	ICGC,
chr2	73764592	73764592	C	T	intronic	ALMS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	vision/eye phenotype	Schizophrenia|Nephronophthisis-related ciliopathy|Myocardial infarction, early onset, association with|Leber congenital amaurosis|Diabetes, type 1, juvenile|Cardiomyopathy, mitogenic|Alstrom syndrome, atypical|Alstrom syndrome	ICGC,
chr12	130184720	130184720	G	C	exonic	TMEM132D	nonsynonymous	SNV	0.041	0.081	-	-	-	-	-	-	-	-	-	GACA-JP|1|585|0.00171	-	-	-	Panic disorder  	ICGC,
chr21	21723383	21723383	G	A	intergenic	LOC101927797,LINC00320	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr7	118933931	118933931	C	T	intergenic	ANKRD7,KCND2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,integument phenotype	-,Epilepsy, temporal lobe	ICGC,
chr7	145602800	145602800	A	T	intergenic	TPK1,CNTNAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,integument phenotype	Thiamine pyrophosphokinase deficiency|Leigh-like disease|Colorectal cancer, increased risk, association with |Autism,Gilles de la Tourette syndrome|Intellectual disability  |Learning disability & speech problems|Mental retardation |Mental retardation, Pitt-Hopkins-like|Multiple congenital anomalies  |Seizures, neonatal |Speech delay  |Stuttering |Epileptic encephalopathy  |Epilepsy and schizophrenia|Autism|Autism spectrum disorder |Autism spectrum disorder, modifier of|Childhood apraxia of speech|Cortical dysplasia-focal epilepsy syndrome|Developmental and/or speech and/or behavioural problems|Developmental delay  |Developmental delay & dysmorphic features|Dyslexia 	ICGC,
chr6	105434688	105434688	C	T	intronic	LIN28B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-	Epithelial ovarian cancer, reduced risk, association|Epithelial ovarian cancer, increased risk, association 	ICGC,
chr7	132412749	132412749	G	A	ncRNA_exonic	FLJ40288	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-JP|1|585|0.00171	-	-	-	-	ICGC,
chrX	110100606	110100606	G	T	intergenic	CHRDL1,PAK3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	-,behavior/neurological phenotype	Megalocornea, X-linked,Mental retardation syndrome, X-linked|Mental retardation with neuropsychiatric features	ICGC,
chrX	110007915	110007915	T	C	intronic	CHRDL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	-	Megalocornea, X-linked	ICGC,
chr11	15095086	15095086	-	C	upstream	CALCB	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN26130435	-	-	-	-	-	-	COSMIC,
chr11	99722159	99722159	G	C	intronic	CNTN5	unknown	SNV	-	-	-	0.2301	rs12808066	-	0.196685	-	0.261	-	-	ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488	-	-	behavior/neurological phenotype	-	ICGC,
chr4	152159414	152159414	T	G	intergenic	SH3D19,PRSS48	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20897046	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,Potential protein deficiency	COSMIC,ICGC,
chr7	61672927	61672927	C	G	intergenic	NONE,ZNF733P	unknown	SNV	-	-	-	0	-	-	-	-	-	COSN21637443	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr8	95196442	95196442	-	TGG	intronic	CDH17	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN27885154	-	-	-	-	hematopoietic system phenotype	-	COSMIC,COSMIC,COSMIC,
chr3	197951109	197951109	G	T	intergenic	FAM157A,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19641431	-	LAML-KR|1|205|0.00488	-	-	-,-	-,-	COSMIC,ICGC,
chr19	30864315	30864315	C	T	intronic	ZNF536	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	Schizophrenia	ICGC,
chr1	119055437	119055437	T	C	intergenic	SPAG17,TBX15	unknown	SNV	-	-	-	0.3526	rs2360012	-	0.273163	-	0.188	-	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	Autism,Cousin syndrome	ICGC,
chrX	135902749	135902749	C	T	intergenic	ARHGEF6,RBMX	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	hematopoietic system phenotype,-	Autism spectrum disorder|Mental retardation, X-linked,-	ICGC,
chr5	106197216	106197216	A	T	ncRNA_intronic	LOC102467213	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	-	ICGC,
chr12	81012608	81012608	T	A	intronic	PTPRQ	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	Deafness, non-syndromic |Hearing loss  |Nonsyndromic hearing impairment DFNB84	ICGC,
chr14	47282921	47282921	A	G	intergenic	RPL10L,MDGA2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22326124	-	BRCA-EU|1|569|0.00176	-	-	-,skeleton phenotype	-,-	COSMIC,ICGC,
chr8	84322003	84322003	G	A	downstream	LINC01419	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr4	132043166	132043166	T	A	intergenic	LOC101927282,PCDH10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,Schizophrenia|Potential protein deficiency	ICGC,
chr11	112421418	112421418	C	T	ncRNA_intronic	LOC387810	unknown	SNV	-	-	-	0.0122	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chrX	93062497	93062497	G	A	intergenic	FAM133A,NONE	unknown	SNV	-	-	-	4.637e-05	rs558305511	-	0.000264901	-	-	COSN8346944	-	PRAD-UK|1|140|0.00714	-	-	-,-	-,-	COSMIC,ICGC,
chr12	85779452	85779453	TT	-	intergenic	ALX1,RASSF9	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,integument phenotype	Microphthalmia with facial clefting|Mental retardation, language delay & microcephaly |Autism spectrum disorder,-	ICGC,
chr18	33485888	33485888	G	A	upstream	MIR187	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr13	37497864	37497864	C	T	intergenic	SMAD9,ALG5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,mortality/aging	Pulmonary arterial hypertension,-	ICGC,
chr11	1742856	1742856	-	AAA	intergenic	KRTAP5-6,IFITM10	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr5	55359990	55359990	A	G	intergenic	FLJ31104,ANKRD55	unknown	SNV	-	-	-	0.0012	rs146113106	-	0.00119808	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,Potential protein deficiency	ICGC,
chr16	51350017	51350017	A	C	intergenic	SALL1,LOC101927364	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging,-	Townes-Brocks syndrome|Renal hypodysplasia|Multiple congenital anomalies, CNS defects, cortical blindness, and absence of psychomotor development|Lenz microphthalmia syndrome|Goldenhar syndrome ,-	ICGC,
chr14	35701889	35701889	T	-	intronic	KIAA0391	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813,LIRI-JP|1|258|0.00388	-	-	-	-	ICGC,
chrX	5616903	5616903	G	T	intergenic	LOC101928201,NLGN4X	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,Potential protein deficiency|Mental retardation|Kallmann syndrome and ichthyosis|Intellectual disability, short stature & hydrocephaly|Intellectual disability, Kallmann syndrome & ichthyosis|Intellectual disability, behavioural difficulties, ichthyosis & hypogonadotrophic hypogonadism|Intellectual disability, autism spectrum disorder & short stature|Developmental delay, hypospadias & ichthyosis|Developmental delay, autism spectrum disorder, micropenis & ichthyosis|Developmental delay  |Autism, association with|Autism and mental retardation|Autism 	ICGC,
chr7	55151121	55151121	C	T	intronic	EGFR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Squamous cell carcinoma of head & neck |Reduced transcription|Lymph node metastasis and high-grade tumours in breast cancer, association with|Lung cancer, susceptibility to|Lung cancer, association with |Lung cancer prognosis, association with|Lung cancer|Glioblastoma, risk, association with|Gefitinib toxicity, association with|Acute coronary syndrome, association with|Altered transmembrane signaling|Bladder cancer, association with |Breast cancer, association with|Colorectal carcinoma prognosis, association with|Dilated cardiomyopathy, association with	ICGC,
chr11	133084500	133084500	C	T	intronic	OPCML	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	no phenotypic analysis	Autism spectrum disorder  	ICGC,
chr6	117858260	117858260	A	T	intronic	DCBLD1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN4951882	-	ESAD-UK|1|301|0.00332	-	-	-	-	COSMIC,ICGC,
chr7	53725584	53725584	A	T	ncRNA_intronic	LINC01446	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr12	66947088	66947088	C	T	intronic	GRIP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Autism|Fraser syndrome|Schizophrenia and epilepsy	ICGC,
chr13	56344612	56344612	C	A	intergenic	MIR5007,PRR20A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26917196	-	UTCA-FR|1|20|0.05000	-	-	-,-	-,-	COSMIC,COSMIC,ICGC,
chrX	29216750	29216750	G	A	intronic	IL1RAPL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	nervous system phenotype	Mental retardation, X-linked|Mental retardation with dysmorphic features|Mental retardation and autism|Intellectual disability, X-linked with dysmorphism|Intellectual disability, X-linked|Intellectual disability, dysmorphic signs, deafness & behavioural problems|Intellectual disability & behavioural problems|Developmental delay, learning disability & microcephaly|Autism spectrum disorder  |Asperger syndrome	ICGC,
chr4	16640621	16640621	C	T	intronic	LDB2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	normal phenotype	-	ICGC,
chr5	20545192	20545192	C	T	intronic	CDH18	unknown	SNV	-	-	-	0.0001	rs772529241	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Anorectal malformation	ICGC,
chr16	16670969	16670969	C	T	intergenic	NPIPA7,XYLT1	unknown	SNV	-	-	-	6.474e-05	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,Decreased serum glycosaminoglycan levels, association with|Desbuquois dysplasia type 2|Diabetes, type 1, protection, association |Diabetic nephropathy protection |Increased serum XT1 activity in pseudoxanthoma elasticum, association|Short stature & intellectual disability	ICGC,
chr5	97833812	97833812	C	G	intergenic	LINC01340,RGMB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,-	ICGC,
chr4	71190589	71190589	C	T	intergenic	CSN3,CABS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	-,-	ICGC,
chr20	53683954	53683954	C	T	intergenic	DOK5,LINC01441	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr8	41710936	41710936	G	C	intronic	ANK1	unknown	SNV	-	-	-	0.0109	rs112295756	-	0.00479233	-	0.007	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype	Schizophrenia|Spherocytosis|Spherocytosis, psychomotor developmental delay & facial features	ICGC,
chr8	119801800	119801800	-	TATAAATA	intergenic	SAMD12-AS1,TNFRSF11B	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,mortality/aging	-,Travellers diarrhea, association with|Spine bone mineral density, reduced, in postmenopausal women, association with|Periodontitis, association with|Paget disease, juvenile|Paget disease|Osteoporotic fractures, association with|Ischemic stroke, association with|Increased lumbar spine BMD in adolescent idiopathic scoliosis, association with|Altered splicing  |Bone mineral density in men, association with|Coronary artery disease, association with|Decreased bone mineral density, association |Increased intima-media thickness, association	ICGC,
chr12	59963928	59963928	G	A	intergenic	LRIG3,SLC16A7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,-	-,Autism spectrum disorder	ICGC,
chr9	12189193	12189193	C	T	intergenic	PTPRD-AS2,TYRP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Albinism, oculocutaneous  |Albinism, oculocutaneous 3|Melanesian blond hair	ICGC,
chr5	92066759	92066759	C	A	intergenic	ARRDC3-AS1,NR2F1-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25296838	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	COSMIC,ICGC,
chr9	30031545	30031545	G	T	intergenic	LINGO2,LINC01242	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-,-	Autism spectrum disorder  |Developmental delay with absent speech,-	ICGC,
chr3	86759759	86759759	G	T	intergenic	RNU6-69P,VGLL3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9576757	-	OV-AU|1|93|0.01075	-	-	-,-	-,-	COSMIC,ICGC,
chr17	56111384	56111384	A	C	intergenic	SRSF1,LOC101927666	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	mortality/aging,-	-,-	ICGC,
chr1	75675325	75675325	G	C	intronic	SLC44A5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8508688	-	OV-AU|1|93|0.01075	-	-	skeleton phenotype	-	COSMIC,ICGC,
chr10	8176114	8176114	A	G	intergenic	GATA3,LINC00708	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17593376	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,-	Sensorineural hearing loss, facial dysmorphism & delayed psychomotor development|Hypoparathyroidism, deafness and renal dysplasia|Hypoparathyroidism and deafness|Acute lymphoblastic leukaemia, association with ,-	COSMIC,ICGC,
chr5	81566132	81566132	G	C	intergenic	ATG10,RPS23	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	Breast cancer, reduced risk, association with,-	ICGC,
chr2	48193885	48193885	A	T	intergenic	FBXO11,FOXN2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	integument phenotype,-	-,-	ICGC,
chr8	64583982	64583982	C	A	intergenic	YTHDF3,LINC01289	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16931334	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	COSMIC,ICGC,
chr6	142851761	142851761	G	T	ncRNA_intronic	LOC153910	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chrX	30250804	30250804	C	T	intronic	MAGEB3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	RECA-EU|1|422|0.00237	-	-	-	-	ICGC,
chr8	76107955	76107955	T	A	intergenic	CRISPLD1,CASC9	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22579111	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr17	43910314	43910314	C	T	intronic	CRHR1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Panic disorder, association with |Infantile spasms|Increased body mass index, association with	ICGC,
chr2	189440228	189440228	A	G	intronic	GULP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr17	51948221	51948221	T	-	intergenic	KIF2B,TOM1L1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr1	30512356	30512356	C	G	intergenic	LOC101929406,MATN1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8456294	-	OV-AU|1|93|0.01075	-	-	-,skeleton phenotype	-,-	COSMIC,ICGC,
chr21	26121861	26121861	A	G	intergenic	LOC101927869,LOC339622	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr16	28280828	28280828	C	T	intergenic	XPO6,SBK1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	30859261	30859261	G	A	intronic	GADL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-UK|1|141|0.00709	-	-	-	-	ICGC,
chr6	102307270	102307270	T	A	exonic	GRIK2	nonsynonymous	SNV	0.001	1.0	-	-	-	-	-	-	-	-	HNSC|1|512|0.00195	-	-	-	behavior/neurological phenotype	Mental retardation, non-syndromic, autosomal recessive	TCGA,
chr9	12471258	12471258	A	C	intergenic	PTPRD-AS2,TYRP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	-,Albinism, oculocutaneous  |Albinism, oculocutaneous 3|Melanesian blond hair	ICGC,
chr3	48183546	48183546	-	GCCTTCCT	intergenic	MAP4,CDC25A	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	normal phenotype,mortality/aging	Autism spectrum disorder,-	ICGC,
chr2	36272532	36272532	G	A	intergenic	NONE,LOC100288911	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr7	127222496	127222496	A	C	exonic	GCC1	nonsynonymous	SNV	0.239	0.0	7.72e-05	-	rs573023412	0.0001	0.000199681	-	-	COSM6451790	-	-	-	-	-	-	COSMIC,
chr6	144372475	144372475	G	T	intronic	PLAGL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	integument phenotype	Ventricular septal defect, isolated	ICGC,
chr11	96660031	96660031	A	G	intergenic	JRKL-AS1,MIR7976	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15366075	-	OV-AU|1|93|0.01075	-	-	-,-	-,-	COSMIC,COSMIC,ICGC,
chr14	62600145	62600145	A	T	ncRNA_exonic	LINC00643	unknown	SNV	-	-	-	0.2322	rs73266223	-	0.241414	-	0.362	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr7	129377449	129377449	G	T	intronic	NRF1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24635781	-	GACA-CN|1|123|0.00813	-	-	mortality/aging	-	COSMIC,ICGC,
chr6	23211709	23211709	-	A	intergenic	HDGFL1,NRSN1	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN27139434	-	-	-	-	-,-	-,-	COSMIC,
chr3	179878919	179878919	T	C	intergenic	PEX5L,TTC14	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	behavior/neurological phenotype,-	-,-	ICGC,
chr10	109069045	109069045	A	C	intergenic	SORCS1,RNU6-53P	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6958571	-	PACA-AU|1|391|0.00256	-	-	other phenotype,-	Autism ,-	COSMIC,ICGC,
chr5	4516243	4516243	T	G	intergenic	IRX1,LOC101929153	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-JP|1|585|0.00171	-	-	-,-	-,-	ICGC,
chr11	84779661	84779661	G	T	intronic	DLG2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Schizophrenia and epilepsy|Myopathy  |Intellectual disability, autism and epilepsy|Hypochondriasis|Dysmorphic features & speech delay|Developmental delay and dysmorphic features|Developmental delay  	ICGC,
chr10	26748630	26748630	G	A	intronic	APBB1IP	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-	-	ICGC,
chr14	90250424	90250424	G	A	intergenic	FOXN3,EFCAB11	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr5	43561030	43561030	C	T	intergenic	PAIP1,NNT-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr20	37197701	37197701	A	C	intronic	RALGAPB	unknown	SNV	-	-	-	0.2224	rs1292938	-	0.233427	-	0.290	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	-	ICGC,
chr6	78911990	78911990	C	T	intergenic	MEI4,IRAK1BP1	unknown	SNV	-	-	-	3.234e-05	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,no phenotypic analysis	-,-	ICGC,
chr16	34467839	34467839	C	G	intergenic	UBE2MP1,LOC283914	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9646315	-	RECA-EU|1|422|0.00237	-	-	-,-	-,-	COSMIC,ICGC,
chr13	54784556	54784556	T	A	intergenic	LINC00458,MIR1297	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	102468075	102468075	A	T	intergenic	FLJ20021,BANK1	unknown	SNV	-	-	-	0.0006	rs538919487	-	0.000599042	-	-	COSN20174159	-	PACA-CA|1|268|0.00373	-	-	-,hematopoietic system phenotype	-,Systemic sclerosis, susceptibility to, association with|Systemic lupus erythematosus, protection against, association|Rheumatoid arthritis|Psoriasis, early disease onset, association with.|Diffuse systemic sclerosis, susceptibility to, association with	COSMIC,ICGC,
chr4	67823338	67823338	C	T	intergenic	EPHA5-AS1,LOC101927237	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6841451	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr2	57283719	57283719	T	G	intergenic	CCDC85A,VRK2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr1	151763070	151763070	C	T	upstream	TDRKH	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr15	63982407	63982407	T	C	intronic	HERC1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging	-	ICGC,
chr4	135709125	135709125	T	-	intergenic	PABPC4L,LINC00613	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	Autism spectrum disorder  ,-	ICGC,
chr2	215214562	215214562	-	T	intronic	SPAG16	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	reproductive system phenotype	Instability of central apparatus proteins	ICGC,
chr4	161706423	161706423	A	G	intergenic	RAPGEF2,FSTL5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6809408	-	LIRI-JP|1|258|0.00388	-	-	integument phenotype,-	-,Schizophrenia  |Rolandic epilepsy 	COSMIC,ICGC,
chr11	65792528	65792528	G	A	intronic	CATSPER1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	reproductive system phenotype	Male infertility |Asthenozoospermia 	ICGC,
chr6	55582855	55582855	T	A	intergenic	HMGCLL1,BMP5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Microtia |Osteoarthritis, susceptibility, association with	ICGC,
chr4	160818	160818	A	T	intergenic	ZNF718,ZNF876P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr10	93133806	93133806	C	T	ncRNA_intronic	LOC100188947	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-	-	ICGC,
chr19	8785976	8785976	G	A	intergenic	ADAMTS10,ACTL9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	Schizophrenia|Weill-Marchesani syndrome,-	ICGC,
chr5	87428726	87428726	G	A	intergenic	CCNH,TMEM161B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr12	43954044	43954044	G	A	intergenic	ADAMTS20,PUS7L	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,immune system phenotype	-,-	ICGC,
chr3	14939736	14939736	G	A	intronic	FGD5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-	-	ICGC,
chr11	65271565	65271565	G	-	ncRNA_exonic	MALAT1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	GACA-JP|1|585|0.00171	-	-	-	-	ICGC,
chr2	419092	419092	C	T	intergenic	FAM150B,TMEM18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,Obesity  	ICGC,
chr8	76676995	76676995	C	T	intergenic	HNF4G,LINC01111	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25183437	-	MALY-DE|1|241|0.00415	-	-	respiratory system phenotype,-	-,-	COSMIC,ICGC,
chr1	43748561	43748561	-	T	exonic	C1orf210	frameshift	insertion	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-	-	ICGC,
chr10	80771940	80771940	G	A	ncRNA_intronic	ZMIZ1-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr7	127700201	127700201	T	A	intronic	SND1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25284492	-	MALY-DE|1|241|0.00415	-	-	-	Schizophrenia	COSMIC,ICGC,
chr19	4128132	4128132	G	A	intergenic	MAP2K2,CREB3L3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16537341	-	PACA-CA|1|268|0.00373	-	-	integument phenotype,immune system phenotype	Craniofacial features, developmental delay, sleep apnoea & gastrointestinal dysfunction|Cardiomyopathy, hypertrophic|Cardio-facio-cutaneous syndrome|Cafe-au-lait spots & Noonan synrome-like facial features,Hypertriglyceridaemia	COSMIC,ICGC,
chr16	51551087	51551087	G	A	intergenic	SALL1,LOC101927364	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging,-	Townes-Brocks syndrome|Renal hypodysplasia|Multiple congenital anomalies, CNS defects, cortical blindness, and absence of psychomotor development|Lenz microphthalmia syndrome|Goldenhar syndrome ,-	ICGC,
chr14	48059477	48059477	-	A	intronic	MDGA2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	skeleton phenotype	-	ICGC,
chr9	15201972	15201972	G	C	intronic	TTC39B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	-	-	ICGC,
chr6	77606836	77606836	G	A	intergenic	IMPG1,HTR1B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,skeleton phenotype	Macular dystrophy, vitelliform,Suicidal ideation, in major depression, association with|Receptor variant|Alcohol dependence, association with|Alcohol and drug abuse, association with|Aggressive behaviour, association with	ICGC,
chr11	109224734	109224734	T	G	intergenic	DDX10,C11orf87	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	Intellectual disability  ,-	ICGC,
chr10	58584288	58584288	G	A	intergenic	ZWINT,MIR3924	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr9	71858517	71858517	-	C	intronic	TJP2	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN14722634	-	-	-	-	mortality/aging	Hypercholanaemia|Hearing loss, progressive nonsyndromic|Hearing loss, non-syndromic, autosomal dominant|Cholestatic liver disease, progressive	COSMIC,
chr3	22391684	22391684	C	T	intergenic	ZNF385D-AS2,UBE2E2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr8	28915421	28915421	A	T	intergenic	HMBOX1,KIF13B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8079183	-	PACA-AU|1|391|0.00256	-	-	-,-	-,Schizophrenia	COSMIC,ICGC,
chr7	52778284	52778284	T	-	intergenic	COBL,POM121L12	unknown	deletion	-	-	-	-	-	-	-	-	0.043	-	-	LMS-FR|1|67|0.01493	-	-	nervous system phenotype,-	-,-	ICGC,
chr17	48917618	48917618	C	T	exonic	WFIKKN2	synonymous	SNV	-	-	4.07e-06	-	rs771844851	8.281e-06	-	-	-	COSM5593978	-	-	-	-	-	-	COSMIC,
chr8	143782303	143782303	T	C	intronic	LY6K	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	-	ICGC,
chr7	49338470	49338470	G	A	intergenic	CDC14C,VWC2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr16	49344462	49344462	C	T	intergenic	CBLN1,C16orf78	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	behavior/neurological phenotype,-	-,-	ICGC,
chr12	61420233	61420233	C	T	intergenic	SLC16A7,FAM19A2	unknown	SNV	-	-	-	-	rs11504099	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Autism spectrum disorder,-	ICGC,
chr14	62331194	62331194	G	A	intergenic	SNAPC1,SYT16	unknown	SNV	-	-	-	-	rs531346699	-	0.000199681	-	-	COSN19709836	-	COCA-CN|1|321|0.00312	-	-	-,-	-,-	COSMIC,ICGC,
chr8	13161311	13161311	A	-	intronic	DLC1	unknown	deletion	-	-	-	0.0002	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312,BRCA-EU|2|569|0.00351	-	-	mortality/aging	Congenital heart disease 	ICGC,
chr12	711410	711410	C	T	intronic	NINJ2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr3	84873762	84873762	A	C	ncRNA_intronic	LINC00971	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr10	107675558	107675558	A	G	intergenic	LOC101927549,SORCS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,other phenotype	-,Autism 	ICGC,
chr12	57822418	57822418	A	T	intergenic	R3HDM2,INHBC	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19457432	-	-	-	-	-,reproductive system phenotype	-,-	COSMIC,
chr1	159274425	159274425	C	T	intronic	FCER1A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype	Atopic dermatitis, association with|Increased serum IgE level|Total serum IgE levels, association with|Urticaria, chronic, aspirin-intolerant, association with	ICGC,
chrX	125605829	125605829	A	T	intergenic	DCAF12L2,DCAF12L1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21553333	-	BRCA-UK|1|141|0.00709,BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr12	5411164	5411164	A	G	intergenic	LOC101929584,NTF3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9563688	-	OV-AU|1|93|0.01075	-	-	-,mortality/aging	-,Schizophrenia, severe, increased risk, association|Schizophrenia, increased risk, association with |Hirschsprung disease 	COSMIC,ICGC,
chr22	16144975	16145007	GTTTTTCTTCGCTGTCTCTTTGGTTACCATGAG	-	intergenic	NONE,DUXAP8	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	ICGC,
chr7	89475980	89475980	G	C	intergenic	ZNF804B,STEAP2-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22368105	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr7	75182517	75182517	G	A	intronic	HIP1	unknown	SNV	-	-	-	3.238e-05	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Epilepsy & learning difficulties|Ovarian cancer 	ICGC,
chr15	89887647	89887647	A	T	intergenic	POLG,MIR9-3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15689105	-	LIRI-JP|1|258|0.00388	-	-	integument phenotype,-	Mitochondrial DNA depletion syndrome.|Mitochondrial DNA depletion syndrome, myopathic|Mitochondrial DNA depletion syndrome, hepatocerebral|Mitochondrial DNA depletion syndrome, hepatic|Mitochondrial DNA depletion syndrome |Male subfertility, association with|Male infertility, association with.|Lactic acidosis|Jerky collitis|Isolated distal myopathy of upper limbs|Mitochondrial neurogastrointestinal encephalomyopathy-like syndrome|Mitochondrial recessive ataxia syndrome.|Oxidative phophorylation deficiency|Optic atrophy  |Neurodegenerative disease|Myopathy, polyneuropathy & ataxia|Myoclonic epilepsy of infancy|Myocerebrohepatopathy spectrum disorders|Muscle weakness, exercise intolerance, hearing loss, arhythmia|Multiple sclerosis-like features|Mitochondrial spinocerebellar ataxia and epilepsy.|Mitochondrial spinocerebellar ataxia and epilepsy|Intractable epilepsy, childhood-onset|Hereditary spinocerebellar ataxia with peripheral neuropathy|Fatigue, muscle complaints & dysarthria|Ataxic neuropathy|Ataxia, epilepsy & cataract|Alpers-like syndrome|Alpers-like hepatocerebral syndrome|Alpers-Huttenlocher syndrome|Alpers syndrome.|Alpers syndrome & seizures|Alpers syndrome |Acute liver failure ?|Breast cancer, protection against, association with |Cataracts / ovarian dysgenesis / distal muscle atrophy|Cerebellar ataxia & sensory neuropathy |Failure to thrive|Epilepsy and myoclonic jerks|Epilepsy  |Encephalopathy|Dravet syndrome|Distal myopathy with cachexia|Developmental delay and seizures|Depression, ataxia and cardiomyopathy|Complex I deficiency|Acute liver failure|Status epilepticus & epilepsy|Progressive external ophthalmoplegia with Parkinsonism|Progressive external ophthalmoplegia, modifer of|Proximal myopathy, ptosis, diplopia|SANDO|SANDO with dopamine-agonist responsive parkinsonism|Sensory ataxic neuropathy with dysarthria and ophthalmoparesis|Sensory neuropathy  |Sensory-ataxic neuropathy, ophthalmoplegia, dysarthria and gastroparesis|Sodium valproate-induced liver toxicity, association with|Progressive external ophthalmoplegia with encephalopathy|Progressive external ophthalmoplegia and parkinsonism|Parieto-occipital lobe epilepsy|Parkinson disease, association with|Parkinson disease, early-onset|Peripheral neuropathy, sensorineural hearing loss, tremor & intracranial calcifications|POLG deficiency|POLG-Parkinson disease|Progressive external ophthalmoplegia |Progressive external ophthalmoplegia & ataxia|Progressive external ophthalmoplegia & mental retardation|Progressive external ophthalmoplegia & parkinsonism,-	COSMIC,ICGC,
chr8	86292224	86292233	TCGAGTTTTA	-	intergenic	CA1,CA3	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	OV-AU|1|93|0.01075	-	-	-,muscle phenotype	Carbonic anhydrase deficiency,-	ICGC,
chr19	15143129	15143129	C	T	intergenic	CCDC105,CASP14	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,-	ICGC,
chr5	28144490	28144490	C	T	intergenic	LINC01021,LSP1P3	unknown	SNV	-	-	-	6.929e-05	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr6	25710620	25710641	TGGGAAATGCAACCTTTGGTCA	-	intergenic	SCGN,HIST1H2AA	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|2|100|0.02000	-	-	-,-	-,-	ICGC,
chr9	128357372	128357372	T	C	intronic	MAPKAP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging	Breast cancer, non-BRCA1/BRCA2 related	ICGC,
chr6	48689192	48689192	C	T	intergenic	PTCHD4,MUT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Methylmalonic aciduria	ICGC,
chr19	22949014	22949014	A	T	intronic	ZNF99	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Potential protein deficiency	ICGC,
chr10	1637444	1637444	G	A	intronic	ADARB2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr2	187771812	187771812	T	C	intergenic	ZSWIM2,CALCRL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,integument phenotype	-,-	ICGC,
chr22	35399483	35399483	A	T	intergenic	LARGE,ISX	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17208522	-	PACA-CA|1|268|0.00373	-	-	mortality/aging,no phenotypic analysis	Alpha-dystroglycanopathy |Autism, non-complex|Fukushima congenital muscular dystrophy|Muscular dystrophy, congenital 1D|Walker-Warburg syndrome|Walker-Warburg syndrome.,-	COSMIC,ICGC,
chr11	87592145	87592145	C	T	intergenic	TMEM135,RAB38	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,integument phenotype	Intellectual disability  ,-	ICGC,
chr3	146142834	146142834	G	A	intergenic	PLSCR4,PLSCR2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|2|183|0.01093	-	-	-,-	-,-	ICGC,
chrX	82321642	82321642	C	T	intergenic	SH3BGRL,POU3F4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,integument phenotype	-,X-linked mixed deafness|X-linked deafness|Sensorineural hearing loss  |Mixed hearing loss |Hearing loss, X-linked nonsyndromic|Hearing loss & mental retardation	ICGC,
chr18	65567772	65567772	G	A	downstream	LOC643542	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr13	93240795	93240795	C	T	intronic	GPC5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Spina bifida  	ICGC,
chr1	162145955	162145955	A	G	intronic	NOS1AP	unknown	SNV	-	-	-	0.0299	rs116550520	-	0.0245607	-	0.007	-	-	ESAD-UK|1|301|0.00332	-	-	-	Sudden infant death syndrome, association with|Schizophrenia, association with  |QT interval|Obsessive-compulsive disorder |Cardiac repolarisation, association with |Autism spectrum disorder 	ICGC,
chr13	81717434	81717434	C	T	intergenic	SPRY2,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Cleft lip ,-	ICGC,
chr2	129749280	129749280	C	T	intergenic	LOC101927881,LOC151121	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	216919370	216919370	T	G	intronic	ESRRG	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Breast cancer, association with 	ICGC,
chrX	86535172	86535172	C	T	intergenic	DACH2,KLHL4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	normal phenotype,-	-,-	ICGC,
chr9	1025208	1025208	A	C	intergenic	DMRT3,LINC01230	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	-,-	ICGC,
chr5	8238544	8238544	C	T	intergenic	MTRR,LOC729506	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	growth/size phenotype,-	Increased serum methylmalonic acid levels, association with|Methionine synthase reductase deficiency|Pancreatic cancer, increased risk, association with|Spina bifida, increased risk in offspring, association|Temporomandibular disorder, association with|Homocystinuria.|Homocystinuria, cblE type|Altered activity|Colon cancer, sporadic, reduced risk|Coronary artery disease, association with|Coronary heart disease, increased risk, association with  |Homocystinuria,-	ICGC,
chr2	81626986	81626986	G	A	intergenic	CTNNA2,LOC100507201	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Schizophrenia,-	ICGC,
chr1	161435507	161435507	C	T	intergenic	C1orf192,FCGR2A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19612427	-	LAML-KR|1|205|0.00488	-	-	normal phenotype,mortality/aging	-,Kawasaki disease, susceptibility to|Lupus nephritis, protection against, association|Potential protein deficiency|Rheumatoid arthritis, association with|Severe falciparum malaria|Severe sepsis in community-acquired pneumonia, association with|Still's disease, chronic articular-type, association|Ulcerative colitis, association with|Unstable angina pectoris, association with|Kawasaki disease, association with.|Inflammatory bowel disease, association with|Infectious diseases, association with|Acute coronary syndromes, association with|Anaphylaxis, in hypogammaglobulinaemia, association with|Colorectal cancer progression, association with|Coronary heart disease, association with|Idiopathic pulmonary fibrosis severity and progression, association with|Immunoglobulin binding variant|Improved endothelial function in hypercholesterolaemia, association with|Increased risk of inhibitor development in haemophilia A patients, association with|Increased signal transduction activity	COSMIC,ICGC,
chr6	161764277	161764277	G	A	intergenic	AGPAT4,PARK2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6589829	-	PEME-CA|1|112|0.00893,PBCA-DE|1|499|0.00200,MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Parkinson disease, decreased risk|Parkinson disease, early-onset|Parkinson disease, early-onset.|Parkinson disease, familial|Parkinson disease, familial, association with |Parkinson disease, idiopathic|Parkinson disease, in heterozygosity, association|Parkinson disease, late-onset|Parkinson disease, sporadic, reduced risk|Parkinson disease.|Parkinsonism, juvenile, autosomal recessive|Parkinsonism, late-onset, association with|Rolandic epilepsy |Parkinson disease, autosomal recessive|Parkinson disease, association with|Parkinson disease with resting leg tremor|Attention deficit hyperactivity disorder |Autism spectrum disorder|Cervical artery dissection|Dementia with Lewy bodies|Developmental delay  |Dystonia, dopa-responsive|Leprosy, association with|Lewy bodies|Lung adenocarcinoma   |Multiple system atrophy, cerebellar subtype|Parkinson disease|Parkinson disease with dementia.|Parkinson disease with Lewy bodies	COSMIC,ICGC,
chr3	78029904	78029904	A	C	intergenic	ROBO2,ROBO1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9572263	-	OV-AU|1|93|0.01075	-	-	mortality/aging,mortality/aging	Autism spectrum disorder  |Urinary tract anomalies|Vesicoureteral reflux,Developmental dyslexia 	COSMIC,ICGC,
chr13	22666786	22666786	T	G	intergenic	LINC00424,LINC00540	unknown	SNV	-	-	-	0.1698	rs61056805	-	0.201478	-	0.312	COSN27620052	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	COSMIC,ICGC,
chr3	105789955	105789955	C	T	intergenic	CBLB,LINC00882	unknown	SNV	-	-	-	0.0253	rs55651086	-	0.0275559	-	0.072	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Diabetes, type 1,-	ICGC,
chr10	49711133	49711133	G	A	intronic	ARHGAP22	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	-	ICGC,
chr16	50480696	50480696	T	C	intergenic	BRD7,NKD1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8500985	-	OV-AU|1|93|0.01075	-	-	integument phenotype,skeleton phenotype	-,-	COSMIC,ICGC,
chr1	14813299	14813299	A	G	intergenic	PRDM2,KAZN	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27021561	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,hematopoietic system phenotype	Bone mineral density, association with ,-	COSMIC,ICGC,
chr17	76038186	76038186	T	C	intronic	TNRC6C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	RECA-EU|1|422|0.00237	-	-	-	Schizophrenia	ICGC,
chr6	159064222	159064222	C	A	intronic	DYNLT1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24703169	-	GACA-CN|1|123|0.00813	-	-	-	-	COSMIC,ICGC,
chr3	143887906	143887906	G	C	intergenic	C3orf58,PLOD2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21391485	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,Bruck syndrome	COSMIC,ICGC,
chr10	52067061	52067061	C	A	exonic	SGMS1	nonsynonymous	SNV	0.065	0.004	-	-	-	-	-	-	-	COSM6421255	-	THCA-CN|1|50|0.02000	-	-	mortality/aging	-	COSMIC,COSMIC,ICGC,
chr1	211486914	211486914	A	T	exonic	RCOR3	nonsynonymous	SNV	0.009	0.005	-	-	-	-	-	-	-	COSM425236	BRCA|1|982|0.00102	BRCA-US|1|955|0.00105	-	-	-	-	COSMIC,COSMIC,TCGA,ICGC,
chr7	32946230	32946230	T	C	intergenic	KBTBD2,RP9P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr8	61775380	61775380	A	C	intronic	CHD7	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1366725	-	-	-	-	mortality/aging	Hypogonadotropic hypogonadism|Hypotonia, cognitive impairment, Duane anomaly, deafness and heart defects|Kallmann syndrome|Mental retardation|Psychomotor retardation, hypertrichosis, facial asymmetry, synophria & developmental delay|Reduced ATPase activity|Scoliosis, idiopathic, association with|Temporal bone malformation|Duane retraction syndrome & developmental delay|Duane anomaly, developmental delay & dysmorphic facial features|22q11.2 deletion syndrome|22q11.2 deletion syndrome.|Autism|Autism spectrum disorder|CHARGE syndrome|Congenital heart disease|Congenital heart disease, protection, asssociation with |DiGeorge/CHARGE syndrome	COSMIC,
chr5	37210930	37210930	G	C	intronic	C5orf42	unknown	SNV	-	-	-	-	-	-	-	-	-	COSM6051662	-	-	-	-	-	Joubert syndrome|Monomelic amyotrophy, association with|Oral-facial-digital syndrome type VI|Schizophrenia  	COSMIC,
chrX	143430831	143430831	G	A	intergenic	UBE2NL,SPANXN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	Potential protein deficiency,-	ICGC,
chr2	43413259	43413259	T	A	intergenic	LOC102723854,ZFP36L2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6182477	-	LIRI-JP|1|258|0.00388	-	-	-,integument phenotype	-,-	COSMIC,ICGC,
chr8	102493494	102493494	T	G	intergenic	NACAP1,GRHL2	unknown	SNV	-	-	-	3.392e-05	rs147939919	-	-	-	-	COSN20550984	-	COCA-CN|1|321|0.00312	-	-	-,mortality/aging	-,Deafness, autosomal dominant	COSMIC,ICGC,
chr17	6397160	6397160	C	T	intronic	PITPNM3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	Retinitis pigmentosa|Cone dystrophy, autosomal dominant|Cone dystrophy 	ICGC,
chr10	85355679	85355679	-	TT	intergenic	NRG3,GHITM	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	integument phenotype,-	Schizophrenia, association with |Increased ventrolateral PFC activation|Hirschsprung disease  ,-	ICGC,
chr9	15127563	15127563	C	T	intergenic	LOC389705,TTC39B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr13	69405845	69405845	T	A	intergenic	PCDH9,LINC00550	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr6	82026921	82026921	A	T	intergenic	BCKDHB,FAM46A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	-,-	Maple syrup urine disease,Tuberculosis, susceptibility to 	ICGC,
chr5	4415488	4415488	C	T	intergenic	IRX1,LOC101929153	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr10	53805116	53805116	G	A	intronic	PRKG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging	Thoracic aortic aneurysms and dissections	ICGC,
chr19	33658940	33658940	-	CTTTT	intronic	WDR88	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|2|67|0.02985	-	-	-	-	ICGC,
chr9	7128222	7128222	C	T	exonic	KDM4C	nonsynonymous	SNV	0.002	1.0	-	-	-	-	-	-	-	COSM1700822	-	-	-	-	integument phenotype	Upper aerodigestive tract cancer, association with	COSMIC,COSMIC,
chr16	66590956	66590956	T	-	intronic	CKLF,CKLF-CMTM1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312,PBCA-DE|1|499|0.00200	-	-	-,-	-,-	ICGC,
chr4	141401441	141401441	A	G	intronic	LOC152586	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	-	ICGC,
chr7	49179747	49179747	G	A	intergenic	CDC14C,VWC2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr6	65625663	65625663	T	C	intronic	EYS	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-	Cone-rod dystrophy, autosomal recessive.|Leber congenital amaurosis|Retinitis pigmentosa|Retinitis pigmentosa, autosomal recessive |Retinitis pigmentosa, autosomal recessive/Leber congenital amaurosis	ICGC,
chr14	84818293	84818293	C	T	intergenic	NONE,LINC00911	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1172122	-	LINC-JP|1|394|0.00254	-	-	-,-	-,-	COSMIC,ICGC,
chr7	120516851	120516851	T	A	intergenic	TSPAN12,ING3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	vision/eye phenotype,-	Exudative vitreoretinopathy|Persistent hyperplastic primary vitreous & autism spectrum disord,-	ICGC,
chr1	192220646	192220646	C	G	intergenic	RGS18,RGS21	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8414510	-	OV-AU|1|93|0.01075	-	-	no phenotypic analysis,-	Potential protein deficiency,-	COSMIC,ICGC,
chr7	10214932	10214932	A	T	intergenic	PER4,NDUFA4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Complex I deficiency|Cytochrome c oxidase deficiency	ICGC,
chr12	124288099	124288099	G	A	intronic	DNAH10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-	Potential protein deficiency	ICGC,
chr1	40140660	40140660	T	C	intergenic	NT5C1A,HPCAL4	unknown	SNV	-	-	-	0.8670	rs784603	-	0.929912	-	0.935	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr1	93222258	93222258	G	A	intronic	EVI5	unknown	SNV	-	-	-	3.228e-05	-	-	-	-	-	COSN19768922	-	COCA-CN|1|321|0.00312	-	-	-	Neuroblastoma 	COSMIC,ICGC,
chr13	54090816	54090816	T	A	intergenic	OLFM4,LINC00558	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype,-	Potential protein deficiency,-	ICGC,
chr5	123161768	123161768	GG	AA	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr13	107742693	107742693	G	A	intergenic	LINC00443,FAM155A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	102211815	102211815	G	A	intergenic	RNU6-31P,OLFM3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr12	125849045	125849045	T	A	intronic	TMEM132B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr17	11130540	11130540	C	T	intergenic	PIRT,SHISA6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype,-	-,-	ICGC,
chr6	120087388	120087388	C	T	intergenic	LOC285762,TBC1D32	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-,-	-,Oro-facio-digital syndrome type IX	ICGC,
chr4	144993689	144993689	C	T	intergenic	GYPB,GYPA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Blood group variation|Ss blood group variation,MNS antigen, absence|M blood type variant|Haemolytic disease of the newborn|Blood group variation|Blood group Erik variant	ICGC,
chr18	68274019	68274019	A	C	intergenic	LOC101060542,GTSCR1	unknown	SNV	-	-	-	0.0122	rs140180551	-	0.0215655	-	0.022	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr17	9733246	9733246	C	T	intronic	GLP2R	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	-	ICGC,
chr5	74406520	74406520	G	A	intronic	ANKRD31	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr4	20765640	20765640	A	G	intronic	KCNIP4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2017852	-	LIRI-JP|1|258|0.00388	-	-	-	Renal cell carcinoma 	COSMIC,ICGC,
chr20	52055060	52055060	C	T	intronic	TSHZ2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	mortality/aging	Schizophrenia	ICGC,
chr12	51031660	51031660	T	-	intronic	DIP2B	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	hematopoietic system phenotype	Mental retardation	ICGC,
chr7	31814142	31814142	T	C	intronic	PDE1C	unknown	SNV	-	-	-	0.0424	rs10270278	-	0.0155751	-	0.072	-	-	ESAD-UK|1|301|0.00332	-	-	taste/olfaction phenotype	Developmental delay  	ICGC,
chr6	31844191	31844191	G	A	intronic	SLC44A4	unknown	SNV	-	-	-	6.465e-05	rs555813273	-	0.000199681	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chrX	58192170	58192170	G	A	intergenic	ZXDA,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr12	70791501	70791501	C	T	intronic	KCNMB4	unknown	SNV	-	-	-	3.231e-05	rs780309446	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	-	ICGC,
chr11	49743959	49743959	T	C	ncRNA_intronic	LOC440040	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20217010	-	PACA-CA|1|268|0.00373	-	-	-	-	COSMIC,ICGC,
chr2	222719247	222719247	G	A	intergenic	EPHA4,PAX3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	reproductive system phenotype,integument phenotype	Amyotrophic lateral sclerosis, reduced disease severity,Waardenburg syndrome type I|Waardenburg syndrome III|Waardenburg syndrome I.|Waardenburg syndrome I|Waardenburg syndrome|Spina bifida  |Reduced transcription|Hearing loss, syndromic|Craniofacial-deafness-hand syndrome	ICGC,
chr6	62828495	62828495	G	A	intronic	KHDRBS2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr18	21412820	21412820	A	-	intronic	LAMA3	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332,MALY-DE|1|241|0.00415	-	-	integument phenotype	Laryngo-onycho-cutaneous syndrome|Epidermolysis bullosa, junctional|Epidermolysis bullosa, Herlitz	ICGC,
chr2	343552	343552	G	A	intergenic	FAM150B,TMEM18	unknown	SNV	-	-	-	0.0040	rs184486730	-	-	-	0.007	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,Obesity  	ICGC,
chr3	158761550	158761550	A	T	intergenic	MFSD1,IQCJ	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16437817	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr3	189878628	189878628	C	T	intergenic	LEPREL1,CLDN1	unknown	SNV	-	-	-	-	rs546577819	-	0.000199681	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	High myopia  ,Ichthyosis, alopecia, and sclerosing cholangitis	ICGC,
chr9	8892512	8892512	-	AT	intronic	PTPRD	unknown	insertion	-	-	-	3.329e-05	rs763704059	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype	Restless legs syndrome, association with|Ewing sarcoma	ICGC,
chr7	40597906	40597906	C	T	intronic	SUGCT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr2	95337026	95337026	G	A	intergenic	NONE,FAM95A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	22205514	22205514	G	A	intergenic	KCNIP4,LOC100505912	unknown	SNV	-	-	-	0.0024	rs142688949	-	0.000599042	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	Renal cell carcinoma ,-	ICGC,
chr4	138603492	138603492	A	G	intergenic	PCDH18,LINC00616	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6802415	-	LIRI-JP|1|258|0.00388	-	-	-,-	Intellectual disability  ,-	COSMIC,ICGC,
chr4	150098617	150098617	C	T	intergenic	NR3C2,DCLK2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BOCA-UK|1|130|0.00769	-	-	mortality/aging,mortality/aging	Myocardial infarction, increased risk, association with|Neonatal stress, association with|Pseudohypoaldosteronism 1|Pseudohypoaldosteronism type 1, autosomal dominant|Reduced expression|Reduced expression, association with|Increased BMI and LDL-cholesterol, association with|Increased blood pressure, association with|Increased amygdala reactivity, with prior childhood emotional neglect, association with.|Autism |Blood pressure variation in response to potassium, association with|Cortisol awakening response in women, association with|Fibromyalgia|Higher ADHD symptom dimensions, association with|Hypertension, early onset exacerbated in pregnancy,-	ICGC,
chr3	100942338	100942338	C	A	UTR3	IMPG2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26524720	-	LICA-CN|1|402|0.00249	-	-	-	Retinitis pigmentosa|Retinitis pigmentosa, autosomal recessive	COSMIC,ICGC,
chr17	3379518	3379518	G	A	exonic	ASPA	nonsynonymous	SNV	0.0	1.0	4.061e-06	-	-	-	-	-	-	COSM4555566	-	-	-	-	integument phenotype	Canavan disease |Increased N-acetylaspartic acid excretion and macrocephaly	COSMIC,
chr11	74846573	74846573	C	T	intergenic	OR2AT4,SLCO2B1	unknown	SNV	-	-	-	3.229e-05	rs752471548	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,immune system phenotype	-,Poor montelukast metabolism|Increased mRNA expression  |Decreased enzyme activity	ICGC,
chr12	74147166	74147166	T	C	intergenic	LOC101928137,LOC100507377	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr15	76089484	76089484	T	C	intergenic	MIR4313,UBE2Q2	unknown	SNV	-	-	-	0.0012	rs118089183	-	0.00399361	-	-	-	-	LAML-KR|1|205|0.00488	-	-	-,-	-,-	ICGC,
chr11	195178	195178	C	T	downstream	LOC653486,SCGB1C1	unknown	SNV	-	-	-	3.228e-05	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	ICGC,
chr7	57326639	57326639	C	T	intergenic	GUSBP10,MIR3147	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|2|183|0.01093	-	-	-,-	-,-	ICGC,
chrX	81135904	81135904	G	A	intergenic	SH3BGRL,POU3F4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,X-linked mixed deafness|X-linked deafness|Sensorineural hearing loss  |Mixed hearing loss |Hearing loss, X-linked nonsyndromic|Hearing loss & mental retardation	ICGC,
chr3	130669940	130669940	A	T	intronic	ATP2C1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	integument phenotype	Genitoperineal papular acantholytic dyskeratosis|Hailey-Hailey disease|Hailey-Hailey disease with condyloma acuminata 	ICGC,
chr2	152265762	152265762	-	CT	upstream	RIF1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|5|67|0.07463	-	-	mortality/aging	Schizophrenia	ICGC,
chr16	48943286	48943286	C	T	intergenic	N4BP1,CBLN1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1699116	-	LIRI-JP|1|258|0.00388	-	-	no phenotypic analysis,behavior/neurological phenotype	-,-	COSMIC,ICGC,
chr5	39857699	39857699	T	C	intergenic	LOC101926940,LINC00603	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr5	171286816	171286816	C	T	intergenic	SMIM23,FBXW11	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,Holoprosencephaly & preaxial polydactyly 	ICGC,
chr18	14480744	14480744	C	T	ncRNA_intronic	CXADRP3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr12	70678330	70678330	C	G	intronic	CNOT2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20837682	-	BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr4	32982811	32982811	T	G	intergenic	PCDH7,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25494008	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	COSMIC,ICGC,
chr5	104439173	104439173	T	C	intergenic	RAB9BP1,LOC102467213	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr14	29905368	29905368	T	-	ncRNA_intronic	MIR548AI	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	-	-	ICGC,
chr8	27516484	27516484	G	A	exonic	SCARA3	nonsynonymous	SNV	0.003	0.999	2.032e-05	-	rs201628257	1.652e-05	-	-	-	COSM5976806	-	GACA-JP|1|585|0.00171	-	-	-	-	COSMIC,COSMIC,ICGC,
chr5	14595656	14595656	C	T	intronic	FAM105A	unknown	SNV	-	-	-	-	rs755697295	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr1	75677545	75677545	C	T	intronic	SLC44A5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	skeleton phenotype	-	ICGC,
chr9	121683840	121683840	C	T	intergenic	TLR4,BRINP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	integument phenotype,-	Phenotypic variation in haemochromatosis, association with|Periodontitis, association with|Pancreatic necrotic infection, association with|Negative association with FMF|Nasopharyngeal cancer, increased risk, association with|Moraxella catarrhalis infection, increased risk, association with|Metabolic syndrome, association with|Meningococcal disease susceptibility|Meningococcal disease mortality|Lung function, association with|Lower left ventricular mass, in hypertensive women, association|Increased risk of cirrhosis in chronic hepatitis C ?|Increased liver and body fat, association with|Potential protein deficiency|Preterm birth and premature rupture of membranes, association with|Tuberculosis susceptibility, in HIV-infected patients, association|Serious infection, in HIV-1 patients, association with|Retinitis pigmentosa |Reduced LPS-induced IL-12 secretion, association with|Reduced expression|Pulmonary tuberculosis, susceptibility and severity, association|Pulmonary tuberculosis, severity, association with|Protection from urinary tract infection, association with|Protection against being overweight|Prostate cancer, increased risk|Prostate cancer risk, association with|Primary open-angle, normal-tension, and exfoliation glaucoma, association with.|Typhoid infection, increased risk, association with|Increased IL-4 secretion response to measles vaccination, association|Cutaneous leishmaniasis, association with|Crohn's disease, association with|Colorectal cancer, association with.|Colorectal cancer risk, association with|Cervical cancer, early stage, association with|Cancer, increased risk, association with|Bronchopulmonary Dysplasia, infant, association with|Breast cancer, association with.|Behcet disease, protection against, association with|Altered monocyte receptor levels|Acute pyelonephritis, reduced risk in adults, association with|Acute pyelonephritis, in children, association with|Diabetes, type 2, protection against, association with|Digestive system cancer, increased risk & prostate cancer, protection against, association with|Emphysema, association with|Increased expression|Helicobacter pylori-related gastric atrophy, association with|HBV recurrence after liver transplantation, association with|Guillain-Barré syndrome, association with|Guillain-Barré syndrome, AMAN sub-type, association with|Gastritis, association with|Gastric carcinoma, association with|Endometriosis, association with|Endotoxin hyporesponsiveness, association with|Extra-intestinal manifestations in Crohn's disease, association with.|Gastric adenocarcinoma, association with|Gastric cancer, association with,-	ICGC,
chr1	79336340	79336340	A	C	intergenic	IFI44,ELTD1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8145040	-	PACA-CA|1|268|0.00373	-	-	-,normal phenotype	-,-	COSMIC,COSMIC,ICGC,
chr2	156931452	156931452	T	A	ncRNA_intronic	AC093375.1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6199169	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr6	79274587	79274587	C	T	intergenic	MEI4,IRAK1BP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,no phenotypic analysis	-,-	ICGC,
chr22	31467500	31467500	G	A	intergenic	TUG1,SMTN	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,integument phenotype	-,-	ICGC,
chr7	136176449	136176449	G	T	intergenic	LUZP6,CHRM2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21363282	-	BRCA-EU|1|569|0.00176	-	-	-,integument phenotype	-,Reduced expression|Major depression in women, association with|Cardiomyopathy, dilated	COSMIC,ICGC,
chr13	27028153	27028153	C	T	intergenic	CDK8,WASF3	unknown	SNV	-	-	-	0.1667	rs9579017	-	0.211861	-	0.275	-	-	LAML-KR|2|205|0.00976	-	-	mortality/aging,hematopoietic system phenotype	-,Ganglioneuroblastoma 	ICGC,
chr1	47188740	47188740	C	T	intergenic	EFCAB14,CYP4B1	unknown	SNV	-	-	-	6.46e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,CYP4B1 null allele	ICGC,
chr10	10018709	10018709	G	A	intergenic	LOC101928272,LOC101928298	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr9	85743909	85743909	T	C	intergenic	RASEF,FRMD3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7575283	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	COSMIC,COSMIC,ICGC,
chrX	6477238	6477238	A	T	intergenic	VCX3A,HDHD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	Intellectual disability, absent speech & behavioural problems|Mental retardation ,-	ICGC,
chr19	42300619	42300619	C	A	exonic	CEACAM3	nonsynonymous	SNV	0.03	0.887	-	-	-	-	-	-	-	COSM4942234	LIHC|1|373|0.00268	LIHC-US|1|189|0.00529	-	-	-	-	COSMIC,TCGA,ICGC,
chr4	29788664	29788664	G	A	intergenic	MIR4275,PCDH7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr10	129536522	129536522	C	A	intronic	FOXI2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr20	61048850	61048850	C	T	intronic	GATA5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Ventriculoseptal defect|Tetralogy of Fallot|Lone atrial fibrillation|Cardiac defects|Bicuspid aortic valve|Atrioventricular septal defect, Down-syndrome-associated|Atrioventricular septal defect, Down-syndrome associated|Atrial septal defect |Atrial fibrillation	ICGC,
chr12	17375336	17375336	A	G	intergenic	SKP1P2,MIR3974	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-,-	-,-	ICGC,
chr6	30274627	30274627	G	A	ncRNA_intronic	HCG17,HCG18	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22607650	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chrX	110967101	110967101	G	T	exonic	ALG13	nonsynonymous	SNV	0.0	1.0	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	mortality/aging	Congenital disorder of glycosylation 1 |Intellectual disability, nonsyndromic	ICGC,
chr5	161003318	161003318	G	A	intergenic	GABRB2,GABRA6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	skeleton phenotype,behavior/neurological phenotype	-,Idiopathic epilepsy, generalised 	ICGC,
chr8	87608556	87608556	A	C	intronic	CNGB3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24047512	-	BRCA-FR|1|72|0.01389	-	-	vision/eye phenotype	Achromatopsia|Cone dystrophy, autosomal recessive|Cone-rod dystrophy|Macular degeneration, juvenile|Progressive cone dystrophy|Retinitis pigmentosa	COSMIC,ICGC,
chr15	56124585	56124585	G	T	intronic	NEDD4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23569882	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	-	COSMIC,ICGC,
chr4	25443176	25443176	T	C	intergenic	ANAPC4,SLC34A2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,Potential protein deficiency|Pulmonary alveolar microlithiasis	ICGC,
chr21	37139722	37139722	C	T	intergenic	MIR802,LOC101928269	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr14	57607246	57607246	C	T	intergenic	OTX2-AS1,EXOC5	unknown	SNV	-	-	-	3.228e-05	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr5	160721065	160721065	T	A	UTR3	GABRB2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26509507	-	LICA-CN|1|402|0.00249	-	-	skeleton phenotype	-	COSMIC,ICGC,
chrX	124874225	124874225	C	T	intergenic	LOC100129520,LOC101928495	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	RECA-EU|1|422|0.00237	-	-	-,-	-,-	ICGC,
chr5	86686709	86686709	G	A	UTR3	RASA1	unknown	SNV	-	-	2.851e-05	-	-	2.495e-05	-	-	-	-	-	-	Capillary_malformation-arteriovenous_malformation|Parkes_Weber_syndrome	-	mortality/aging	Pial fistulae & intracranial AV fistula|Parkes-Weber syndrome with lymphatic abnormalities|Capillary malformations, multifocal|Capillary malformations|Capillary malformation-arteriovenous malformation|Capillary malformation - arteriovenous malformation|Arteriovenous malformation |Arteriovenous fistula|5q14.3 neurocutaneous syndrome|Sturge-Weber syndrome	ClinVar,
chr17	32360632	32360632	T	C	intronic	ASIC2	unknown	SNV	-	-	-	3.233e-05	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	taste/olfaction phenotype	Dyslexia 	ICGC,
chr12	16800832	16800832	T	A	intergenic	LMO3,SKP1P2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN4618648	-	-	-	-	mortality/aging,-	-,-	COSMIC,COSMIC,
chr3	103489824	103489824	T	C	intergenic	ZPLD1,MIR548A3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	Cerebral cavernous malformations,-	ICGC,
chr12	73109920	73109920	A	C	intergenic	TRHDE,LOC101928137	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17889473	-	ESAD-UK|1|301|0.00332	-	-	no phenotypic analysis,-	-,-	COSMIC,ICGC,
chr1	70490398	70490398	C	T	intronic	LRRC7	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1453930	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging	-	COSMIC,ICGC,
chrX	43363618	43363621	AACA	-	intergenic	LOC101927501,MAOA	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,behavior/neurological phenotype	-,Mental retardation & epilepsy  |Mental retardation, X-linked|Monoamine oxidase deficiency|Panic disorder in female patients, association|Smoking behaviour, association with|Sudden infant death syndrome, association with|Major depression, association with|Intellectual disability, X-linked|Intellectual disability and episodic hypotonia|Intellectual disability & microcephaly|Grey matter loss, association with|Cortical enlargement in autism|Bipolar disorder, association with |Autism spectrum disorder, association with|Antisocial alcoholism, association with	ICGC,
chr3	171194887	171194887	T	-	intergenic	TNIK,PLD1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	behavior/neurological phenotype,-	-,-	ICGC,
chr7	134956864	134956864	A	T	intergenic	STRA8,CNOT4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24491629	-	GACA-CN|1|123|0.00813	-	-	reproductive system phenotype,-	-,Autism	COSMIC,ICGC,
chr3	124380724	124380724	TCC	TTT	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	COSM1693381	-	-	-	-	-	-	COSMIC,COSMIC,
chr10	123325034	123325034	C	T	exonic	FGFR2	synonymous	SNV	-	-	0.0081	0.0097	rs1047101	0.0080	0.00339457	0.0066	-	-	DLBC|1|48|0.02083	-	Craniosynostosis|Crouzon_syndrome|Acrocephalosyndactyly_type_I|Saethre-Chotzen_syndrome|Levy-Hollister_syndrome|Jackson-Weiss_syndrome|Cutis_Gyrata_syndrome_of_Beare_and_Stevenson|Pfeiffer_syndrome|Isolated_coronal_synostosis|not_specified|FGFR2_related_craniosynostosis	-	integument phenotype	Crouzon syndrome with ventricular septal defect.|Crouzon syndrome, atypical|Crouzon syndrome.|Hypospadias |Jackson-Weiss syndrome|Lacrimo-auriculo-dento-digital syndrome|Pfeiffer syndrome|Pfeiffer syndrome, Crouzon syndrome.|Pfeiffer syndrome.|Reduced transcription|Saethre-Chotzen syndrome|Saethre-Chotzen-like|Crouzon syndrome with atrial septal defect.|Crouzon syndrome|Antley-Bixler syndrome|Antley-Bixler, Beare-Stevenson & Pfeiffer syndromes|Apert syndrome|Beare-Stevenson cutis gyrata syndrome|Bent bone dysplasia |Breast cancer, association with.|Breast cancer, increased risk, association with|Breast cancer, reduced risk, association with|Cleft lip and palate|Cleft lip, non-syndromic |Craniosynostosis|Craniosynostosis, predisposition to 	ClinVar,TCGA,
chrX	63167043	63167043	G	A	intergenic	MIR1468,AMER1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21166194	-	BRCA-EU|1|569|0.00176	-	-	-,mortality/aging	-,-	COSMIC,ICGC,
chr5	57953616	57953616	T	-	intronic	RAB3C	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	-	ICGC,
chr15	25054450	25054450	G	A	intergenic	NPAP1,SNRPN	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Prader-Willi syndrome|Asperger syndrome|Angelman syndrome	ICGC,
chr5	180485789	180485789	A	G	intronic	BTNL9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr1	10989622	10989622	G	A	intergenic	CASZ1,C1orf127	unknown	SNV	-	-	-	3.248e-05	-	-	-	-	-	COSN22735605	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,Autism	COSMIC,ICGC,
chr7	57222620	57222620	G	A	intergenic	ZNF479,GUSBP10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr19	34426521	34426521	C	T	intergenic	KCTD15,LSM14A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,-	-,-	ICGC,
chr2	228651564	228651564	T	C	intergenic	SLC19A3,CCL20	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	mortality/aging,-	Wernicke's-like encephalopathy|Thiamine transporter-2 deficiency.|Leigh syndrome, early-childhood fatal|Epileptic spasms, psychomotor retardation & brain MRI findings|Encephalopathy, early-infantile, lethal|Basal ganglia disease, biotin-responsive|Alcohol dependence, susceptibility to,-	ICGC,
chr1	155419104	155419104	T	C	intronic	ASH1L	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1407300	-	LIRI-JP|1|258|0.00388	-	-	-	Intellectual disability  |Schizophrenia	COSMIC,ICGC,
chr14	63300564	63300564	G	C	intronic	KCNH5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	behavior/neurological phenotype	Epileptic encephalopathy 	ICGC,
chr17	32842679	32842679	T	C	intergenic	CCL1,C17orf102	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7164972	-	PACA-AU|1|391|0.00256	-	-	immune system phenotype,-	-,-	COSMIC,ICGC,
chr3	117845309	117845309	T	C	intergenic	LINC00901,IGSF11	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr22	39419134	39419137	ATTT	-	intronic	APOBEC3D	unknown	deletion	-	-	-	-	-	-	-	-	0.094	-	-	LMS-FR|3|67|0.04478	-	-	-	Reduced antiviral activity against HIV-1|Reduced antiviral activity against HIV-1 and Alu retrotransposons	ICGC,
chr7	114496904	114496904	C	T	intergenic	FOXP2,MDFIC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,-	Verbal dyspraxia, dysmorphism and developmental delay|Verbal apraxia & dysarthria|Verbal apraxia|Speech impairment, developmental delay & congenital anomalies|Speech disorder, global development & psychomotor delay|Mental retardation, dysmorphia and language delay|Left opercular polymicrogyria|Dyspraxia and language delay|Developmental verbal dyspraxia|Childhood apraxia of speech|Autism spectrum disorder ,-	ICGC,
chr18	25041628	25041628	A	T	intergenic	CHST9,CDH2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,mortality/aging	-,Reduced expression|Potential protein deficiency|Alzheimer disease  	ICGC,
chr6	40884896	40884896	C	T	ncRNA_intronic	LOC101929555	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr5	82070997	82070997	T	C	intergenic	ATP6AP1L,MIR3977	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6928662	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr2	89874989	89874989	G	A	intergenic	MIR4436A,LOC654342	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr7	10482620	10482620	C	T	intergenic	PER4,NDUFA4	unknown	SNV	-	-	-	3.24e-05	-	-	-	-	-	COSN15069635	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,Complex I deficiency|Cytochrome c oxidase deficiency	COSMIC,ICGC,
chr10	107383315	107383317	TCC	-	intergenic	SORCS3,LOC101927549	unknown	deletion	-	-	-	0.2592	rs142327219	-	0.219649	-	0.225	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr11	64110093	64110093	G	A	exonic	CCDC88B	nonsynonymous	SNV	0.012	0.995	1.641e-05	-	-	-	-	-	-	COSM5508121	-	BTCA-JP|1|239|0.00418	-	-	-	-	COSMIC,ICGC,
chr2	59694880	59694880	G	A	intergenic	LOC101927285,MIR4432	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr3	145807714	145807714	A	C	intronic	PLOD2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	Bruck syndrome	ICGC,
chr8	50695236	50695236	C	T	intergenic	C8orf22,SNTG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Autism|Intellectual disability, cleft palate, hearing loss and dysmorphisms	ICGC,
chr2	241976041	241976041	CC	TT	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr1	205909285	205909285	A	C	intronic	SLC26A9	unknown	SNV	-	-	-	0.5600	rs6593976	-	0.672125	-	0.471	COSN6438916	-	-	-	-	digestive/alimentary phenotype	Bronchiectasis, diffuse ideopathic|Increased current and chloride ion transport|Reduced current and chloride ion transport|Reduced protein expression	COSMIC,
chr5	28988991	28988991	C	A	intergenic	LSP1P3,LOC101929645	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	ICGC,
chr17	42430031	42430031	C	T	exonic	GRN	synonymous	SNV	-	-	4.532e-05	6.465e-05	rs745391227	4.136e-05	-	-	-	COSM4066903	STAD|1|395|0.00253,STES|1|395|0.00253	STAD-US|1|289|0.00346	Frontotemporal_dementia	-	mortality/aging	FTLD with ubiquitin and TDP-43 positive neuronal inclusions|Frontotemporal lobar degeneration|Frontotemporal dementia.|Frontotemporal dementia, association with|Frontotemporal dementia with parkinsonism|Frontotemporal dementia|Hippocampal sclerosis, association with|Neurodegenerative disease|Neuronal ceroid lipofuscinosis|Parkinson disease, atypical  |Progressive nonfluent aphasia|Progressive nonfluent aphasia / corticobasal syndrome|Progressive nonfluent aphasia.|Progressive supranuclear palsy-like|Decreased serum PGRN levels, association with|Corticobasal syndrome / Progressive aphasia and behavioural features.|Corticobasal syndrome|Alzheimer disease|Alzheimer disease, increased risk|Alzheimer disease.|Alzheimer disease/progressive nonfluent aphasia.|Alzheimer's disease|Alzheimer's disease, in men, association with|Alzheimer's disease, increased risk|Amyotrophic lateral sclerosis |Amyotrophic lateral sclerosis / frontotemporal dementia |Aphasia, progressive nonfluent|Aphasia, progressive semantic|Aphasia, progressive, primary|Behavioral frontotemporal dementia/semantic dementia/corticobasal syndrome.|Cortico-basal syndrome	ClinVar,COSMIC,TCGA,ICGC,
chr12	131049655	131049655	G	T	intergenic	RIMBP2,STX2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1563636	-	LIRI-JP|1|258|0.00388	-	-	-,hematopoietic system phenotype	-,-	COSMIC,ICGC,
chr7	119424614	119424614	C	T	intergenic	ANKRD7,KCND2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Epilepsy, temporal lobe	ICGC,
chr4	100963958	100963958	G	A	intergenic	LOC256880,DDIT4L	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Potential protein deficiency	ICGC,
chr8	78525919	78525919	C	A	intergenic	PEX2,PKIA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,normal phenotype	Zellweger syndrome|Refsum disease, infantile|Peroxisome biogenesis disorder|Cerebellar ataxia, autosomal recessive,-	ICGC,
chr20	32265019	32265019	C	A	exonic	E2F1	stopgain	SNV	-	-	-	-	-	-	-	-	-	COSM6501977	-	BRCA-US|1|955|0.00105	-	-	integument phenotype	-	COSMIC,ICGC,
chr11	76169235	76169235	G	C	exonic	C11orf30	nonsynonymous	SNV	0.0	0.997	-	-	-	-	-	-	-	COSM243278	-	-	-	-	-	Schizophrenia  	COSMIC,
chr1	200146532	200146532	C	T	UTR3	NR5A2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	-	ICGC,
chr2	104172920	104172920	T	C	intergenic	TMEM182,LOC100287010	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-,-	-,-	ICGC,
chr14	107035792	107035792	A	C	intergenic	LINC00221,NONE	unknown	SNV	-	-	-	0.1476	rs797028730	-	-	-	-	-	-	PBCA-US|2|186|0.01075	-	-	-,-	-,-	ICGC,
chr5	146369199	146369209	ACATTATATGG	-	intronic	PPP2R2B	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	BRCA-UK|1|141|0.00709	-	-	-	Alzheimer disease, association with |Spinocerebellar ataxia 12	ICGC,
chr10	93260343	93260343	G	A	exonic	HECTD2	nonsynonymous	SNV	0.002	0.238	4.069e-06	-	rs775322620	8.256e-06	-	-	-	COSM340894	-	-	-	-	-	-	COSMIC,
chr11	82429763	82429763	T	G	intergenic	LOC101928989,FAM181B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	-,-	ICGC,
chr10	16748472	16748472	T	A	intronic	RSU1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21342129	-	BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr20	18912803	18912803	T	A	intergenic	C20orf78,SLC24A3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr13	68942570	68942570	C	T	intergenic	PCDH9,LINC00550	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chrX	7722321	7722321	C	T	intergenic	STS,VCX	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Nephrotic syndrome and ichthyosis.|Increased transcriptional activity|Ichthyosis, with mental retardation|Ichthyosis, developmental delay, absent speech & autistic features|Ichthyosis with autistic spectrum disorder|Ichthyosis|Decreased transcriptional activity|Corneal dystrophy, pre-Descemet|Attention deficit hyperactivity disorder, association with|Nephrotic syndrome with ichthyosis,-	ICGC,
chr6	140265051	140265051	G	T	intergenic	LOC100132735,LOC100507477	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr1	15777741	15777741	G	A	intergenic	CTRC,CELA2A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	Reduced activity|Pancreatitis, tropical, association with|Pancreatitis, tropical calcific|Pancreatitis, tropical|Pancreatitis, chronic.|Pancreatitis, chronic, association with|Pancreatitis, chronic |Pancreatitis, alcohol-related,-	ICGC,
chr15	54716194	54716194	G	A	intronic	UNC13C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	behavior/neurological phenotype	Developmental delay  	ICGC,
chr4	68141457	68141457	C	A	intergenic	EPHA5-AS1,LOC101927237	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9795560	-	RECA-EU|1|422|0.00237	-	-	-,-	-,-	COSMIC,ICGC,
chr2	53496371	53496371	G	A	intergenic	NONE,ASB3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,-	-,-	ICGC,
chr1	181759585	181759585	G	T	exonic	CACNA1E	nonsynonymous	SNV	0.002	0.846	-	-	-	-	-	-	-	COSM6059666	LUAD|6|543|0.01105	-	-	-	behavior/neurological phenotype	Autism|Diabetes, type 2, association with	COSMIC,COSMIC,COSMIC,COSMIC,COSMIC,TCGA,
chr6	85530668	85530668	C	T	intergenic	TBX18,NT5E	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	integument phenotype,hematopoietic system phenotype	Autism,Arterial & joint calcifications, symptomatic	ICGC,
chr4	131085046	131085046	G	A	intergenic	LOC101927282,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr9	120864555	120864555	A	G	intergenic	TLR4,BRINP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype,-	Phenotypic variation in haemochromatosis, association with|Periodontitis, association with|Pancreatic necrotic infection, association with|Negative association with FMF|Nasopharyngeal cancer, increased risk, association with|Moraxella catarrhalis infection, increased risk, association with|Metabolic syndrome, association with|Meningococcal disease susceptibility|Meningococcal disease mortality|Lung function, association with|Lower left ventricular mass, in hypertensive women, association|Increased risk of cirrhosis in chronic hepatitis C ?|Increased liver and body fat, association with|Potential protein deficiency|Preterm birth and premature rupture of membranes, association with|Tuberculosis susceptibility, in HIV-infected patients, association|Serious infection, in HIV-1 patients, association with|Retinitis pigmentosa |Reduced LPS-induced IL-12 secretion, association with|Reduced expression|Pulmonary tuberculosis, susceptibility and severity, association|Pulmonary tuberculosis, severity, association with|Protection from urinary tract infection, association with|Protection against being overweight|Prostate cancer, increased risk|Prostate cancer risk, association with|Primary open-angle, normal-tension, and exfoliation glaucoma, association with.|Typhoid infection, increased risk, association with|Increased IL-4 secretion response to measles vaccination, association|Cutaneous leishmaniasis, association with|Crohn's disease, association with|Colorectal cancer, association with.|Colorectal cancer risk, association with|Cervical cancer, early stage, association with|Cancer, increased risk, association with|Bronchopulmonary Dysplasia, infant, association with|Breast cancer, association with.|Behcet disease, protection against, association with|Altered monocyte receptor levels|Acute pyelonephritis, reduced risk in adults, association with|Acute pyelonephritis, in children, association with|Diabetes, type 2, protection against, association with|Digestive system cancer, increased risk & prostate cancer, protection against, association with|Emphysema, association with|Increased expression|Helicobacter pylori-related gastric atrophy, association with|HBV recurrence after liver transplantation, association with|Guillain-Barré syndrome, association with|Guillain-Barré syndrome, AMAN sub-type, association with|Gastritis, association with|Gastric carcinoma, association with|Endometriosis, association with|Endotoxin hyporesponsiveness, association with|Extra-intestinal manifestations in Crohn's disease, association with.|Gastric adenocarcinoma, association with|Gastric cancer, association with,-	ICGC,
chr4	72914764	72914764	C	T	intronic	NPFFR2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397,MELA-AU|1|183|0.00546	-	-	-	Autism	ICGC,
chr3	67373705	67373705	G	A	intergenic	MIR4272,SUCLG2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr16	89782917	89782917	G	A	exonic	VPS9D1	synonymous	SNV	-	-	3.249e-05	3.231e-05	rs376155869	1.658e-05	-	8.2e-05	-	COSM6820766	-	COCA-CN|1|321|0.00312	-	-	-	-	COSMIC,ICGC,
chr5	11117662	11117662	C	T	exonic	CTNND2	nonsynonymous	SNV	0.002	1.0	-	-	-	-	-	-	-	COSM2990847	-	-	-	-	behavior/neurological phenotype	Schizophrenia  |Lennox-Gastaut syndrome |Autism spectrum disorder|Anorectal malformation|Altered localisation	COSMIC,
chrX	70743135	70743135	C	A	ncRNA_intronic	BCYRN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr3	171288670	171288670	-	G	intergenic	TNIK,PLD1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	behavior/neurological phenotype,-	-,-	ICGC,
chrX	108010504	108010504	C	T	intergenic	LOC101928358,GUCY2F	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,vision/eye phenotype	-,-	ICGC,
chr1	234030051	234030051	G	A	intergenic	KCNK1,SLC35F3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	homeostasis/metabolism phenotype,-	-,-	ICGC,
chr2	182353738	182353738	G	A	intronic	ITGA4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Increased peripheral blood monocyte counts, association with	ICGC,
chrX	126491929	126491929	-	T	intergenic	PRR32,ACTRT1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-,-	-,-	ICGC,
chr4	6650762	6650762	G	T	intergenic	MRFAP1,LOC93622	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2041220	-	LIRI-JP|1|258|0.00388	-	-	immune system phenotype,-	-,-	COSMIC,COSMIC,ICGC,
chrX	1925854	1925854	-	TAATAA	intergenic	ASMT,DHRSX	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|2|67|0.02985	-	-	-,-	Potential protein deficiency|Lower enzyme activity|Bipolar disorder, association with|Bipolar disorder  |Autism spectrum disorder, association with|Autism spectrum disorder  |Altered enzyme activity,-	ICGC,
chr17	74896499	74896499	A	G	intronic	MGAT5B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22224708	-	BRCA-EU|1|569|0.00176	-	-	homeostasis/metabolism phenotype	-	COSMIC,ICGC,
chr12	105690017	105690017	A	G	intergenic	APPL2,C12orf75	unknown	SNV	-	-	-	0.4045	rs1344780	-	0.412939	-	0.333	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr9	135132552	135132552	C	T	intergenic	NTNG2,SETX	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	-,Cerebellar ataxia/tremor syndrome |Cervical dystonia, primary.|Childhood apraxia of speech ?|Chorea and motor neuron disease|Spinal muscular atrophy |Ataxia-ocular apraxia 2, atypical|Ataxia-ocular apraxia 2|Amyotrophic lateral sclerosis   |Amyotrophic lateral sclerosis ?|Amyotrophic lateral sclerosis 4, juvenile|Ataxia with neuropathy|Ataxia with oculomotor apraxia	ICGC,
chr21	33715425	33715425	G	A	intronic	URB1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20812985	-	BRCA-EU|1|569|0.00176	-	-	-	Schizophrenia	COSMIC,ICGC,
chr2	166911231	166911231	A	C	exonic	SCN1A	nonsynonymous	SNV	0.0	0.966	4.081e-06	-	-	-	-	-	-	-	COAD|1|367|0.00272,COADREAD|1|489|0.00204	-	-	-	mortality/aging	Lennox-Gastaut syndrome|Intractable epilepsy/Myoclonic epilepsy, borderline.|Intractable epilepsy.|Intractable epilepsy  |Infantile seizures, microcephaly, brain anomalies, facial dysmorphism, growth retardation & neuromuscular scoliosis|Hepatic coma|Hemiplegic migraine and epilepsy|Hemiplegic migraine 3.|Hemiplegic migraine 2|Hemiplegic migraine|Hemiconvulsion-hemiplegia syndrome|Generalized epilepsy with febrile seizures plus|Generalized epilepsy of infancy|Generalised epilepsy with febrile seizures plus 2|Generalised epilepsy  |Migrating partial seizures of infancy|Myoclonic astatic epilepsy|Myoclonic epilepsy and migraine|Seizures, developmental delay, growth retardation, microcephaly & micrognathia|Rasmussen encephalitis|Partial seizures of infancy, malignant migrating|Partial epilepsy with febrile seizures plus|Parental mosaicism, GEFS+ father and Dravet syndrome child|Panayiotopoulos syndrome|Myoclonic-astatic epilepsy |Myoclonic seizures|Myoclonic epilepsy, progressive.|Myoclonic epilepsy, borderline.|Myoclonic epilepsy, borderline|Myoclonic epilepsy of infancy/Myoclonic epilepsy, borderline.|Myoclonic epilepsy of infancy.|Myoclonic epilepsy of infancy|Sudden unexpected death in epilepsy|Acute encephalopathy  |Dravet syndrome with acute encephalopathy|Dravet syndrome C|Dravet syndrome B |Dravet syndrome & mitochondrial electron transport chain defects|Dravet syndrome & mental retardation|Dravet syndrome|Developmental disorder and intellectual disability|Cryptogenic generalised epilepsy|Cryptogenic focal epilepsy|Autism spectrum disorder  |Autism |Altered carbamazepine response|Acute necrotizing encephalopathy|Acute encephalopathy with biphasic seizures & late reduced diffusion|Dravet syndrome, atypical|Dravet syndrome, atypical multifocal.|Dravet syndrome.|Febrile seizures, association with|Febrile seizures plus|Febrile seizures|Epileptic encephalopathy, early onset|Epileptic encephalopathy  |Epilepsy, symptomatic, reduced risk|Epilepsy, severe|Epilepsy, idiopathic  |Epilepsy, early-onset|Epilepsy |Epilepsy risk, association with|Epilepsy with cognitive impairment / autism spectrum disorder|Epilepsy-aphasia|Epilepsy-aphasia with febrile seizures plus|Epilepsy, apnoea, mental retardation & dysmorphic features	TCGA,
chr3	30464276	30464276	A	G	intergenic	RBMS3,TGFBR2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6765334	-	LIRI-JP|1|258|0.00388	-	-	-,mortality/aging	-,Loeys-Dietz syndrome|Loeys-Dietz syndrome, type II|Marfan syndrome II|Marfan syndrome, incomplete|Marfan-like syndrome|Microcephaly & developmental delay|Non-SGS marfanoid craniosynostosis|Potential protein deficiency|Shprintzen-Goldberg syndrome|Loeys-Dietz aortic aneurysm syndrome|Leprosy, association with|Iron overload disease, ferroportin-associated|Allergic disease, predisposition to|Aortic aneurysm |Aortic aneurysm, thoracic|Breast cancer, protection against, association with.|Cervical artery dissection, spontaneous|Colorectal cancer |Colorectal cancer, non-polyposis|Gastric cancer, reduced risk, association with|Giant cell carcinoma	COSMIC,ICGC,
chr9	115594737	115594744	AGAGTGTG	-	intronic	SNX30	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	-	ICGC,
chr3	87847790	87847790	C	A	intergenic	POU1F1,HTR1F	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16957056	-	PRAD-CA|1|308|0.00325	-	-	mortality/aging,integument phenotype	Mental retardation, in women, association with|Pituitary hormone deficiencies, multiple|Pituitary hormone deficiency,-	COSMIC,ICGC,
chr2	154565672	154565672	T	C	intergenic	RPRM,GALNT13	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,normal phenotype	-,-	ICGC,
chr1	87834623	87834623	-	TGT	ncRNA_intronic	LINC01364	unknown	insertion	-	-	-	-	-	-	-	-	-	-	LUAD|1|543|0.00184	-	-	-	-	-	TCGA,
chrX	55710173	55710173	C	T	intergenic	FOXR2,RRAGB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr8	55538837	55538837	G	A	exonic	RP1	nonsynonymous	SNV	0.007	0.117	-	-	-	-	-	-	-	COSM3649802	SKCM|1|368|0.00272	SKCM-US|1|335|0.00299	-	-	vision/eye phenotype	Retinitis pigmentosa, early-onset|Retinitis pigmentosa, autosomal recessive.|Retinitis pigmentosa, autosomal recessive|Retinitis pigmentosa, autosomal dominant|Retinitis pigmentosa|Potential protein deficiency|Leber congenital amaurosis|Hypertriglyceridaemia, association with|	COSMIC,TCGA,ICGC,
chr10	53040347	53040347	C	G	intronic	PRKG1	unknown	SNV	-	-	-	0.0316	rs112926703	-	0.0365415	-	0.014	-	-	LAML-KR|1|205|0.00488	-	-	mortality/aging	Thoracic aortic aneurysms and dissections	ICGC,
chr5	91471958	91471958	G	A	intergenic	ARRDC3-AS1,NR2F1-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr11	65349317	65349317	G	T	exonic	EHBP1L1	nonsynonymous	SNV	0.01	0.001	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr3	31054542	31054542	G	A	intergenic	GADL1,STT3B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Congenital disorder of glycosylation  |Schizophrenia	ICGC,
chr7	123115703	123115703	G	A	intronic	IQUB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-	-	ICGC,
chr2	32622015	32622015	C	T	intronic	BIRC6	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9370691	-	OV-AU|1|93|0.01075	-	-	integument phenotype	-	COSMIC,ICGC,
chr8	144659004	144659004	C	A	exonic	NAPRT	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM1623707	-	LINC-JP|1|394|0.00254	-	-	-	-	COSMIC,COSMIC,COSMIC,ICGC,
chr13	89347138	89347138	A	G	intergenic	LINC00433,LINC00353	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr19	5395249	5395249	T	G	intergenic	PTPRS,ZNRF4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	integument phenotype,-	-,-	ICGC,
chr3	112835258	112835258	A	G	intergenic	C3orf17,LOC101929717	unknown	SNV	-	-	-	0.4184	rs6438129	-	0.452676	-	0.558	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr14	99419656	99419656	G	A	intergenic	C14orf177,BCL11B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,integument phenotype	-,-	ICGC,
chr7	153018983	153018983	G	A	intergenic	ACTR3B,DPP6	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9977754	-	OV-AU|1|93|0.01075	-	-	-,nervous system phenotype	-,Autism spectrum disorder  |Schizophrenia  |Ventricular fibrillation, idiopathic 	COSMIC,ICGC,
chr13	61741260	61741260	G	A	intergenic	LINC00378,MIR3169	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	73474477	73474477	C	T	intergenic	ADAMTS3,COX18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Schizophrenia,-	ICGC,
chr17	36392913	36392913	T	G	ncRNA_intronic	LOC440434	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17206053	-	PACA-CA|1|268|0.00373,LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr4	46582378	46582378	G	T	intergenic	GABRA2,COX7B2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	integument phenotype,-	-,-	ICGC,
chr20	34769214	34769214	A	G	intronic	EPB41L1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	nervous system phenotype	Autism spectrum disorder|Intellectual disability, nonsyndromic|Schizophrenia	ICGC,
chr1	23815395	23815395	C	T	intergenic	ASAP3,E2F2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,-	ICGC,
chrX	138696286	138696286	A	C	intronic	MCF2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	reproductive system phenotype	Autism spectrum disorder	ICGC,
chr19	22324577	22324577	A	G	intergenic	ZNF257,ZNF676	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16359497	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr6	100189384	100189384	G	A	intergenic	PRDM13,MCHR2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr8	20880535	20880535	G	A	intergenic	LOC286114,LOC101929172	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	223498954	223498954	C	G	intronic	FARSB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	OV-AU|1|93|0.01075	-	-	-	-	ICGC,
chr3	100243276	100243276	C	G	intronic	TMEM45A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-	-	ICGC,
chr2	195062864	195062864	T	G	intergenic	PCGEM1,LOC101927406	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	ICGC,
chr6	24916164	24916164	T	G	intronic	FAM65B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9778185	-	OV-AU|1|93|0.01075	-	-	-	-	COSMIC,ICGC,
chr7	154932747	154932794	CATCCCTAAATCCCAGTATCCCAGAATCCAAGCATCCCTGAGCCCCAA	-	intergenic	HTR5A,INSIG1	unknown	deletion	-	-	-	0.0939	rs6150406	-	-	-	-	COSN27264505	-	BTCA-SG|1|71|0.01408,PBCA-US|1|186|0.00538	-	-	behavior/neurological phenotype,mortality/aging	Autism, association with|Schizophrenia, association with,Higher plasma triglyceride level, association	COSMIC,ICGC,
chr10	133860045	133860045	C	T	intergenic	BNIP3,JAKMIP3	unknown	SNV	-	-	-	0.0005	rs556600502	-	0.000199681	-	-	-	-	PBCA-US|1|186|0.00538,BRCA-FR|1|72|0.01389	-	-	hematopoietic system phenotype,-	-,-	ICGC,
chrX	76578064	76578064	G	A	intergenic	LOC101928469,FGF16	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Metacarpal 4/5 fusion, X-linked	ICGC,
chr10	32892646	32892646	T	-	intronic	CCDC7	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	Potential protein deficiency	ICGC,
chr2	207211961	207211961	G	T	intergenic	ZDBF2,ADAM23	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN14545807	-	PACA-AU|1|391|0.00256	-	-	-,mortality/aging	-,-	COSMIC,ICGC,
chr11	110822600	110822600	A	G	intergenic	ARHGAP20,C11orf53	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	ICGC,
chr7	118086927	118086927	A	C	intergenic	ANKRD7,KCND2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN4864839	-	MALY-DE|1|241|0.00415	-	-	-,integument phenotype	-,Epilepsy, temporal lobe	COSMIC,ICGC,
chr14	38964633	38964633	G	A	intergenic	CLEC14A,LINC00639	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr2	66477928	66477928	G	A	intergenic	SPRED2,MIR4778	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17085542	-	-	-	-	hematopoietic system phenotype,-	Childhood apraxia of speech,-	COSMIC,
chr12	18734150	18734150	C	T	intronic	PIK3C2G	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	Diabetes, type 2, association with	ICGC,
chr1	234685084	234685084	C	A	intergenic	LINC01354,IRF2BP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	ICGC,
chr1	177272379	177272379	G	A	intergenic	BRINP2,LOC101928778	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr10	71996052	71996052	C	T	intergenic	PPA1,NPFFR1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21804810	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr13	89441158	89441158	C	T	intergenic	LINC00433,LINC00353	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr10	86717837	86717837	G	T	intergenic	CCSER2,LOC101929624	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr18	13972979	13972979	A	C	intergenic	MC2R,ZNF519	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9675885	-	RECA-EU|1|422|0.00237	-	-	mortality/aging,-	Glucocorticoid deficiency without pigmentation|Glucocorticoid deficiency |Cushing syndrome|Androgen secretion, association with|Adrenal hypoplasia, salt-losing|ACTH responsiveness, association with|ACTH hypersensitivity syndrome,-	COSMIC,ICGC,
chr5	124951239	124951239	T	C	intergenic	LOC101927460,LOC102546228	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	ICGC,
chr15	60137303	60137303	G	A	intergenic	BNIP2,FOXB1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,-	ICGC,
chr19	28521198	28521198	G	A	intergenic	LOC101927151,LOC100420587	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	160691404	160691404	A	T	intergenic	RAPGEF2,FSTL5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	integument phenotype,-	-,Schizophrenia  |Rolandic epilepsy 	ICGC,
chr1	204234494	204234494	C	T	intronic	PLEKHA6	unknown	SNV	-	-	-	0.0004	rs570693988	-	0.000199681	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	Schizophrenia	ICGC,
chr4	139816337	139816337	-	TG	intergenic	LINC00499,CCRN4L	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,growth/size phenotype	-,-	ICGC,
chr2	148999931	148999931	T	A	intronic	MBD5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26081135	-	ESAD-UK|1|301|0.00332	-	-	-	Seizures, developmental delay & dysmorphic features|Psychological and neurodevelopmental abnormalities|Mental retardation |Lennox-Gastaut syndrome |Kleefstra syndrome|Intellectual disability and epilepsy|Intellectual disability & autistic features|Intellectual disability  |2q23.1 microdeletion syndrome|Autism|Autism spectrum disorder  |Autism spectrum disorder, association with|Developmental delay and obesity|Developmental delay, postnatal microcephaly & facial anomalies	COSMIC,ICGC,
chr19	55436033	55436033	G	T	intronic	NLRP7	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22632020	-	BRCA-EU|1|569|0.00176	-	-	-	Hydatidiform mole	COSMIC,ICGC,
chr4	68169391	68169391	A	T	intergenic	EPHA5-AS1,LOC101927237	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2042400	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr14	41632297	41632297	A	G	intergenic	LOC644919,LRFN5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	-,Short stature|Developmental delay, seizures & learning problems 	ICGC,
chr4	64161007	64161007	A	G	intergenic	LPHN3-AS1,TECRL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr14	87553528	87553528	G	A	intergenic	LOC283585,GALC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Krabbe disease, association with|Krabbe disease|Glaucoma, primary open-angle|Glaucoma, primary open angle	ICGC,
chr18	5710610	5710610	A	C	intergenic	EPB41L3,LOC645355	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	Potential protein deficiency,-	ICGC,
chr10	85399391	85399391	T	C	intergenic	NRG3,GHITM	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	integument phenotype,-	Schizophrenia, association with |Increased ventrolateral PFC activation|Hirschsprung disease  ,-	ICGC,
chr1	79609179	79609179	A	G	intergenic	ELTD1,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8145094	-	PACA-CA|1|268|0.00373	-	-	normal phenotype,-	-,-	COSMIC,ICGC,
chr5	178464133	178464133	T	-	intergenic	ZNF879,ZNF354C	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	ICGC,
chr13	63808523	63808523	C	A	intergenic	LINC00448,LINC00395	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr9	83025852	83025852	C	T	intergenic	LOC101927477,TLE1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26522384	-	LICA-CN|1|402|0.00249	-	-	-,-	-,-	COSMIC,ICGC,
chr13	83212118	83212118	G	A	intergenic	NONE,SLITRK1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Trichotillomania|Tourette syndrome|Obsessive-compulsive disorder |Attention deficit hyperactivity disorder 	ICGC,
chr11	31761115	31761115	T	A	intronic	ELP4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21871757	-	BRCA-EU|1|569|0.00176	-	-	-	Aniridia 	COSMIC,ICGC,
chr11	130834729	130834729	G	A	intergenic	SNX19,NTM	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Autism spectrum disorder|Coronary heart disease, association with,Aortic aneurysm, thoracic & intracranial|Potential protein deficiency	ICGC,
chr14	45919576	45919576	C	T	intergenic	MIS18BP1,LINC00871	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr5	131859152	131859152	G	A	intergenic	IRF1,IL5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20804197	-	BRCA-EU|1|569|0.00176	-	-	integument phenotype,hematopoietic system phenotype	Reduced expression,Coronary artery disease, increased risk, association with	COSMIC,ICGC,
chr10	31731166	31731166	G	C	intronic	ZEB1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16747689	-	LIRI-JP|1|258|0.00388	-	-	integument phenotype	Schizophrenia|Posterior polymorphous corneal dystrophy|Keratoconus & Fuchs endothelial corneal dystrophy|Keratoconus |Corneal dystrophy, Fuchs late-onset	COSMIC,ICGC,
chr13	82641390	82641392	GAT	-	intergenic	SPRY2,SLITRK1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|3|67|0.04478	-	-	mortality/aging,mortality/aging	Cleft lip ,Trichotillomania|Tourette syndrome|Obsessive-compulsive disorder |Attention deficit hyperactivity disorder 	ICGC,
chr4	18452127	18452127	C	T	intergenic	LCORL,SLIT2	unknown	SNV	-	-	-	6.458e-05	-	-	-	-	-	COSN15906643	-	EOPC-DE|1|202|0.00495,PACA-CA|1|268|0.00373	-	-	-,mortality/aging	-,Schizophrenia  	COSMIC,COSMIC,ICGC,
chr2	23884044	23884044	C	G	intronic	KLHL29	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21021125	-	BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr7	72238810	72238810	A	G	intronic	TYW1B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr2	83218564	83218564	C	T	intergenic	LOC1720,FUNDC2P2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr10	95790639	95790639	T	C	UTR5	PLCE1	unknown	SNV	-	-	-	0.0035	rs183919560	-	0.00259585	-	-	-	-	-	Nephrotic_syndrome	-	cardiovascular system phenotype	Respiratory-chain complex IV (COX) deficiency|Oesophageal squamous cell carcinoma, reduced risk  |Oesophageal squamous cell carcinoma, association with|Nephrotic syndrome, steroid resistant?|Nephrotic syndrome 3, early onset|Nephrotic syndrome|Mesangial proliferation|Glomerulosclerosis, focal segmental|Gastric adenocarcinoma, increased risk|Gastric adenocarcinoma and oesophageal SCC, association with|Diffuse mesangial sclerosis	ClinVar,
chr4	38596386	38596386	G	A	intergenic	LINC01258,KLF3-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr13	85344137	85344137	G	A	intergenic	LINC00333,LINC00351	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	18657970	18657970	G	A	intronic	IGSF21	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr20	34347804	34347804	A	G	intergenic	RBM39,PHF20	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging,hematopoietic system phenotype	-,-	ICGC,
chr2	51789266	51789266	-	CTTTTT	intergenic	NRXN1,NONE	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	mortality/aging,-	Hypotonia|Hypotonia & encephalopathy|Increased white matter volume, association with|Intellectual disability  |Intellectual disability & attention deficit hyperactivity disorder|Intellectual disability & hearing loss|Intellectual disability & pervasive developmental disorder|Intellectual disability and autism|Intellectual disability, nonsyndromic |Intellectual disability, seizures, dysmorphisms & language delay|Growth retardation  |Epilepsy, myoclonic seizures & speech delay|Developmental disorder|Developmental disorder & attention deficit hyperactivity disorder|Developmental disorder, seizures & attention deficit hyperactivity disorder|Developmental/intellectual disability, hypotonia & dysmorphic features|Disorder of muscle, ligament & fascia|Encephalopathy  |Epilepsy  |Epilepsy with cognitive impairment / autism spectrum disorder|Epilepsy with focal seizures|Epilepsy, generalised |Intellectual disability, seizures, language delay & hypotonia|Language delay|Learning difficulties|Respiratory distress & sepsis|Respiratory distress syndrome|Schizophrenia |Schizophrenia, childhood onset |Schizophrenia, disorganised type|Seizures, generalized tonic-clonic & attention deficit hyperactivity disorder|Sensory integration disorder & attention deficit hyperactivity disorder|Speech delay & social communication difficulties|Tourette syndrome|Pervasive developmental disorder / hypotonia|Pervasive developmental disorder|Pervasive developmental delay / mental retardation, lack of coordination & hearing loss|Learning difficulties, ADHD & autism|Mental retardation|Mental retardation, autism, vertebral malformations|Mental retardation, Pitt-Hopkins-like|Microcephaly & mental retardation|Multiple congenital anomalies  |Multiple disabilities|Myoclonic epilepsy   |Neurodevelopmental disorder  |Vertebral anomalies|Developmental delay, speech delay & social communication difficulties|Attention deficit hyperactivity disorder |Autism spectrum disorder, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability & language delay|Autism spectrum disorder, intellectual disability, dysmorphisms, developmental delay & language delay|Autism spectrum disorder, intellectual disability, seizures & developmental delay|Autism spectrum disorder, intellectual disability, seizures, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability, seizures, dysmorphisms & language delay|Autism spectrum disorder, seizures, developmental delay & language delay|Autism, intellectual disability & attention deficit hyperactivity disorder|Autistic disorder|Autism spectrum disorder with developmental & speech delay|Autism spectrum disorder & seizures|Autism spectrum disorder & language delay|Autism |Autism & learning difficulties|Autism & mental retardation|Autism & seizures|Autism spectrum disorder|Autism spectrum disorder & attention deficit hyperactivity disorder|Autism spectrum disorder & developmental delay|Autism spectrum disorder & dysmorphic features|Autism spectrum disorder & intellectual disability|Behavioural problems|Congenital heart defect  |Craniofacial dysmorphism|Developmental delay & speech/motor delay|Developmental delay with early-onset epilepsy|Developmental delay, dysmorphic features & short stature|Developmental delay, epilepsy, autism|Developmental delay, language delay & hypotonia|Developmental delay, learning difficulties, ADHD|Developmental delay, microcephaly & behavioural problems|Developmental delay, pulmonic stenosis & autism spectrum disorder|Developmental delay, short stature and diaphragmatic hernia|Developmental delay, speech delay & microcephaly|Developmental delay & seizures|Developmental delay & seizure disorder|Cystic hygroma, hydrops & micrognathia|Cystic hygroma, shortened upper limbs & fetal demise|Developmental & speech delay|Developmental delay|Developmental delay / autism|Developmental delay & autism|Developmental delay & dysmorphic features|Developmental delay & epilepsy|Developmental delay & hypotonia|Developmental delay & multiple congenital anomalies,-	ICGC,
chr7	143144220	143144220	G	A	ncRNA_intronic	EPHA1-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr10	93709915	93709919	CGGGA	-	intronic	BTAF1	unknown	deletion	-	-	-	0.0001	rs386746547	-	-	-	-	COSN27229368	-	BTCA-SG|1|71|0.01408	-	-	cardiovascular system phenotype	Glaucoma, primary congenital	COSMIC,ICGC,
chr10	111015386	111015386	C	T	intergenic	RNU6-53P,XPNPEP1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21978858	-	BRCA-UK|1|141|0.00709,BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr7	153616855	153616855	C	T	intronic	DPP6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	nervous system phenotype	Autism spectrum disorder  |Schizophrenia  |Ventricular fibrillation, idiopathic 	ICGC,
chr3	170496748	170496748	G	A	intergenic	SLC7A14,RPL22L1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Retinitis pigmentosa,-	ICGC,
chr15	70689173	70689173	T	G	intergenic	TLE3,UACA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-UK|1|140|0.00714	-	-	mortality/aging,integument phenotype	-,Colorectal cancer |Schizophrenia	ICGC,
chr5	63135836	63135836	T	A	intergenic	IPO11,HTR1A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-UK|1|140|0.00714	-	-	-,mortality/aging	-,Tourette syndrome |Reduced expression|Personality disorders, association with.|Menstrual cycle-dependent fever|Major depression and suicide, association with|Major depression|Impulsive behaviour, association with|Epileptic seizures |Comorbid depression and generalized anxiety, association with|Attenuated agonist-mediated receptor down-regulation and desensitization	ICGC,
chr12	113169973	113169973	T	A	intergenic	PTPN11,RPH3A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	integument phenotype,normal phenotype	Noonan syndrome with malignant mastocytsosis|Noonan syndrome with lymphocytic leukaemia / basal cell carcinoma|Noonan syndrome with juvenile myelomonocytic leukaemia|Noonan syndrome with dysembryoplastic neuro-epithelial tumour|Noonan syndrome with ductal breast cancer|Noonan syndrome with colorectal cancer / epithelioid angiosarcoma|Noonan syndrome with multifocal ductal breast cancer|Noonan syndrome with multiple giant cell lesions|Noonan syndrome with neuroblastoma|Noonan syndrome with non-Hodgkin lymphoma|Noonan syndrome with oligodendroglioma|Potential protein deficiency|Severe neonatal hypertrophic cardiomyopathy, in Noonan syndrome|Thrombocytopaenia and Noonan syndrome.|Visual loss, cranial fibrous dysplasia, aneurysmal bone cyst|Noonan syndrome with acute lymphoblastic / juvenile myelomonocytic leukaemia|Noonan syndrome|Acute lymphoblastic leukaemia|Atrioventricular septal defect|Behcet's disease |Cardiomyopathy, hypertrophic.|Congenital heart defect & Noonan syndrome|Giant cell lesions in Noonan syndrome|Glioma  |LEOPARD syndrome|LEOPARD Syndrome.|Neurofibromatosis-Noonan syndrome|Myelomonocytic leukaemia, juvenile|ML / LEOPARD syndrome|Metachondrochromatosis|Medulloblastoma|Leukaemia, juvenile myelomonocitic,-	ICGC,
chr11	67568850	67568850	C	T	ncRNA_intronic	FAM86C2P	unknown	SNV	-	-	-	0.2873	rs11824596	-	0.271765	-	0.181	-	-	LUSC-KR|1|170|0.00588	-	-	-	-	ICGC,
chr11	89459508	89459508	T	C	intergenic	TRIM77,TRIM49	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25782060	-	EOPC-DE|1|202|0.00495	-	-	-,-	-,-	COSMIC,ICGC,
chr7	36426047	36426048	TA	-	intronic	KIAA0895	unknown	deletion	-	-	-	-	-	-	-	-	-	COSN19126354	-	CLLE-ES|1|510|0.00196	-	-	-	-	COSMIC,ICGC,
chr5	35500312	35500312	G	A	intergenic	PRLR,SPEF2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,mortality/aging	Benign breast tumours, association with|Hyperprolactinaemia,-	ICGC,
chrX	83929729	83929729	A	-	intergenic	HDX,UBE2DNL	unknown	deletion	-	-	-	0.0009	-	-	-	-	-	COSN23221189	-	COCA-CN|1|321|0.00312,MALY-DE|2|241|0.00830	-	-	normal phenotype,-	Premature ovarian failure |Mental retardation, X-linked,-	COSMIC,ICGC,
chr12	113639101	113639101	A	G	intronic	IQCD	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1557811	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr15	97340663	97340663	A	G	intergenic	SPATA8,LOC101927286	unknown	SNV	-	-	-	0.2678	rs7178064	-	0.301917	-	0.232	-	-	LAML-KR|1|205|0.00488	-	-	-,-	Potential protein deficiency,-	ICGC,
chr13	91859792	91859792	C	T	ncRNA_intronic	LINC00379	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27802081	-	UTCA-FR|1|20|0.05000	-	-	-	-	COSMIC,ICGC,
chr19	56256161	56256161	T	G	intergenic	NLRP9,RFPL4A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19073573	-	CLLE-ES|1|510|0.00196	-	-	-,-	-,-	COSMIC,ICGC,
chr4	126642929	126642929	G	A	intergenic	MIR2054,INTU	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Anorectal malformation	ICGC,
chr6	58307847	58307847	G	A	intergenic	GUSBP4,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27696452	-	NKTL-SG|1|50|0.02000	-	-	-,-	-,-	COSMIC,ICGC,
chr7	149191569	149191569	G	A	exonic	ZNF746	nonsynonymous	SNV	0.001	0.999	-	-	-	-	-	-	-	COSM6832818	PRAD|1|499|0.00200	-	-	-	-	-	COSMIC,TCGA,
chr2	220352192	220352192	G	A	intronic	SPEG	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Potential protein deficiency|Schizophrenia	ICGC,
chr6	128985575	128985575	C	T	intergenic	PTPRK,LAMA2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	Autism,Muscular dystrophy, merosin deficient|Myopathy with sarcotubular proliferation|Schizophrenia  |Tuberculoid leprosy, association with |Muscular dystrophy, limb girdle|Muscular dystrophy, congenital 1A.|Muscular dystrophy, congenital 1A, atypical|Muscular dystrophy, congenital 1A|Laminin alpha 2 chain deficiency, partial|Cardiomyopathy, dilated, type 1A	ICGC,
chr7	17178526	17178526	C	T	intergenic	AGR3,AHR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Uterine endometrial cancer, association with|Lung cancer, smoking-related, association with|Lower AHR, ARNT and CYP1B1 mRNA expression, association|Higher induced CYP1A1 activity|Breast cancer risk, association with	ICGC,
chr12	64017878	64017878	C	A	exonic	DPY19L2	stopgain	SNV	-	-	-	-	-	-	-	-	-	COSM1606486	-	-	-	-	reproductive system phenotype	Globozoospermia	COSMIC,
chr9	107343773	107343773	G	A	intergenic	OR13C8,OR13C5	unknown	SNV	-	-	-	9.755e-05	-	-	-	-	-	COSN8292769	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	COSMIC,ICGC,
chr3	128368369	128368369	T	C	intronic	RPN1	unknown	SNV	-	-	-	0.0018	rs76816092	-	0.00539137	-	-	-	-	LAML-KR|1|205|0.00488	-	-	-	-	ICGC,
chr9	24884255	24884255	C	A	intergenic	IZUMO3,TUSC1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	ICGC,
chr4	164531791	164531791	T	G	intronic	MARCH1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	hematopoietic system phenotype	-	ICGC,
chr5	17272665	17272665	T	A	intronic	BASP1	unknown	SNV	-	-	-	0.0011	rs150466509	-	0.000399361	-	-	-	-	MALY-DE|1|241|0.00415	-	-	mortality/aging	-	ICGC,
chr13	108422583	108422583	G	A	intronic	FAM155A	unknown	SNV	-	-	-	0.0002	rs550050353	-	-	-	-	-	-	SKCA-BR|2|100|0.02000	-	-	-	-	ICGC,
chr7	70645849	70645849	G	A	intronic	WBSCR17	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr4	180482099	180482099	G	C	intergenic	LINC01098,LINC00290	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	ICGC,
chr2	53927361	53927361	T	C	intronic	ASB3,GPR75-ASB3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1845979	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr18	61357152	61357152	T	G	intergenic	SERPINB3,SERPINB11	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9340577	-	OV-AU|1|93|0.01075	-	-	-,-	Liver cirrhosis, association with,Non-inhibitory variant	COSMIC,ICGC,
chr13	54834891	54834891	G	A	intergenic	LINC00458,MIR1297	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr20	15995346	15995346	C	T	intronic	MACROD2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Kabuki syndrome|Attention deficit hyperactivity disorder 	ICGC,
chr7	141952996	141952996	C	T	intronic	PRSS58	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr1	188823648	188823648	A	T	intergenic	PLA2G4A,BRINP3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6523110	-	PBCA-DE|1|499|0.00200	-	-	mortality/aging,-	Asthma, association with|Cryptogenic multifocal ulcerating stenosing enteritis|Increased enzyme activity|Prostanoid biosynthesis deficiency,-	COSMIC,ICGC,
chr12	92539378	92539378	-	A	UTR5	BTG1	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN19671550	-	-	-	-	-	Keratosis pilaris	COSMIC,
chr11	40468443	40468443	G	A	intronic	LRRC4C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr7	19067867	19067867	G	A	intergenic	HDAC9,TWIST1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,mortality/aging	Peters' anomaly |Immunodeficiency, common variable, association with  ,Synostotic frontal plagiocephaly|Saethre-Chotzen-like syndrome, intellectual disability & autism|Saethre-Chotzen-like syndrome|Saethre-Chotzen syndrome & hyper IgE syndrome|Saethre-Chotzen syndrome & hand-foot-uterus syndrome|Saethre-Chotzen syndrome|Robinow-Sorauf syndrome|Plagiocephaly |Microcephaly, facial dysmorphism and short stature|Craniosynostosis.|Craniosynostosis|Brachicephaly |Baller-Gerold syndrome	ICGC,
chr1	79581681	79581681	C	T	intergenic	ELTD1,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	normal phenotype,-	-,-	ICGC,
chr1	189259227	189259227	A	G	intergenic	NONE,BRINP3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN4746025	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	COSMIC,ICGC,
chr5	13434232	13434232	C	T	intergenic	LINC01194,DNAH5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Asthenozoospermia |Autism |Chronic rhinosinusitis and primary ciliary dyskinesia|Potential protein deficiency|Primary ciliary dyskinesia	ICGC,
chr7	108866299	108866299	T	C	intergenic	C7orf66,EIF3IP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr2	139622660	139622660	-	T	intergenic	NXPH2,YY1P2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr6	107911833	107911833	C	T	intronic	SOBP	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	UTCA-FR|1|20|0.05000	-	-	behavior/neurological phenotype	Intellectual disability	ICGC,
chrX	115750808	115750808	G	C	intergenic	CT83,KLHL13	unknown	SNV	-	-	-	0.0007	rs201916512	-	-	-	-	COSN10034035	-	RECA-EU|1|422|0.00237	-	-	-,-	-,Peripheral neuropathy  	COSMIC,COSMIC,ICGC,
chr12	26469312	26469312	G	A	intergenic	SSPN,ITPR2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,mortality/aging	-,-	ICGC,
chr17	60929659	60929659	C	T	ncRNA_intronic	MIR548W	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr1	233805718	233805718	C	T	intronic	KCNK1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	homeostasis/metabolism phenotype	-	ICGC,
chr19	53687075	53687075	G	A	intronic	ZNF665	unknown	SNV	-	-	-	0.0004	rs777317635	-	-	-	-	COSN15921335	-	PACA-CA|1|268|0.00373	-	-	-	-	COSMIC,ICGC,
chr17	1479979	1479979	A	T	exonic	SLC43A2	nonsynonymous	SNV	0.001	0.988	-	-	-	-	-	-	-	COSM296522	COAD|1|367|0.00272,COADREAD|1|489|0.00204	-	-	-	-	-	COSMIC,TCGA,
chr22	38333110	38333110	C	T	exonic	MICALL1	nonsynonymous	SNV	0.0	0.038	6.042e-05	6.472e-05	rs758665675	4.779e-05	-	-	-	COSM5463118	-	COCA-CN|1|321|0.00312	-	-	-	-	COSMIC,ICGC,
chr8	126606563	126606563	G	A	intergenic	TRIB1,LINC00861	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	immune system phenotype,-	Coronary artery disease, increased risk, association with,-	ICGC,
chr12	121240234	121240234	-	AT	intronic	SPPL3	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	-	ICGC,
chr14	85672702	85672702	T	A	intergenic	NONE,LINC00911	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr13	48615260	48615260	A	C	intronic	NUDT15	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-	-	ICGC,
chr1	106556646	106556646	G	T	intergenic	LOC100129138,PRMT6	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN4707880	-	BRCA-UK|1|141|0.00709,BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,COSMIC,ICGC,
chr6	69414224	69414224	C	A	intronic	BAI3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr7	117207795	117207795	G	A	intronic	CFTR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Pancreatitis, chronic, increased risk|Non-obstructive azoospermia|Obstructive azoospermia|Obstructive azoospermia.|Oligospermia|Ovulatory infertility.|Pancreatic cancer, increased risk |Pancreatic sufficient cystic fibrosis|Pancreatitis|Pancreatitis, chronic|Pancreatitis, chronic ?|Pancreatitis, chronic, association with.|Metabolic alkalosis|Meconium ileus, lethal|Lung disease|Hypochloraemic alkalosis|Inadequate weight gain|Increased expression|Increased risk of pancreatitis in patient with mild CF|Infertility |Infertility, association with|Inflammatory bowel disease|Leukemia, risk, association with|Lung cancer|Lung cancer risk, association with|Lung cancer, reduced risk|Hypertrypsinaemia, neonatal|Pancreatitis, chronic.|RA-associated diffuse bronchiectasis/rheumatoid arthritis|Recurrent pancreatitis|Recurrent pancreatitis, and disseminated bronchiectasis|Reduced bone mineral density in cystic fibrosis|Reduced expression|Respiratory symptoms of cystic fibrosis|Respiratory/pancreatic disease, association with|Rheumatoid arthritis-associated diffuse bronchiectasis|Sarcoidosis, susceptibility to|Transient reactive papulotranslucent acrokeratoderma.|Tubal infertility.|Pulmonary disease|Pseudo-Bartter's syndrome|Proteinuria in cystic fibrosis, association with|Pancreatitis, early acute.|Pancreatitis, idiopathic|Pancreatitis, idiopathic chronic  |Pancreatitis, increased risk|Pancreatitis, necrotizing.|Pancreatitis.|Phenotype modifier|Phenotype modifier, association with|Primary sclerosing cholangitis|Primary sclerosing cholangitis, protection against|Prostate cancer protection|Typhoid fever, protection against, association with|Abs of vas def, recurr pancreatitis, and diss bronchiectasis|Azoospermia with congenital absence of the vas deferens|Azoospermia with congenital absence of vas deferens|Azoospermia without CAVD and oligospermia|Azoospermia without congenital absence of the vas deferens|Azoospermia.|Bronchial asthma, association with|Bronchial asthma, association with.|Bronchiectasis|Bronchiectasis, association with|Bronchiectasis, association with.|Bronchiectasis, disseminated.|Azoospermia with CAVD and Oligospermia|Azoospermia with and without CAVD and Oligospermia|Azoospermia with and without CAVD|Allergic bronchopulmonary aspergillosis, association with.|Altered expression|Altered splicing|Altered transcription factor binding|Anorectal malformation|Asthenospermia|Asthma|Asthma / chronic pancreatitis|Asthma-like bronchopathy|Asthma.|Azoospermia |Bronchiectasis.|Bronchitis|Cystic fibrosis, atypical|Cystic fibrosis, atypical.|Cystic fibrosis, modifier of|Cystic fibrosis.|Decreased transcription|Diabetic complications in pregnancy, association with.|Disseminated bronchiectasis|Elevated sweat chloride concentration|Fertility advantage in males, association with|Foetal hyperechogenic bowel|Hyperlipidemic pancreatitis, association with|Hypertrypsinaemia, low sweat chloride|Cystic fibrosis, association with|Cystic fibrosis related liver disease|CFTR-related disorder|Chronic obstructive pulmonary disease, reduced severity, association|Chronic pancreatitis, increased risk|Chronic pulmonary disease|Con abs of vas deferens, and disseminated bronchiectasis|Congenital absence of vas deferens|Congenital absence of vas deferens and bronchiectasis|Congenital absence of vas deferens, association|Crohn's disease, protection against, association with|Cystic fibrosis|Cystic fibrosis & sickle cell-beta thalassaemia|Cystic fibrosis related disorder	ICGC,
chr2	141135381	141135381	A	C	intronic	LRP1B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Schizophrenia   	ICGC,
chr6	145118369	145118369	G	A	intronic	UTRN	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging	Arthrogryposis |Schizophrenia	ICGC,
chr1	155187625	155187625	A	G	ncRNA_intronic	GBAP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	-	ICGC,
chr10	108584826	108584826	C	T	intronic	SORCS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17637249	-	ESAD-UK|1|301|0.00332	-	-	other phenotype	Autism 	COSMIC,ICGC,
chr13	74090953	74090953	G	A	intergenic	KLF5,LINC00392	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,-	Hypertension, association with,-	ICGC,
chr17	69362349	69362349	G	A	intergenic	CASC17,LOC102723505	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr7	1348952	1348952	T	G	intergenic	UNCX,MICALL2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|2|402|0.00498	-	-	mortality/aging,-	-,-	ICGC,
chr4	90797727	90797727	G	C	intergenic	SNCA-AS1,MMRN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr2	15082623	15082623	C	T	intergenic	LOC653602,NBAS	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,Short stature, optic atrophy & Pelger-Huet 	ICGC,
chr5	105455275	105455275	A	G	intergenic	RAB9BP1,LOC102467213	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr11	55512527	55512527	C	T	intergenic	OR4C6,OR5D13	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,Potential protein deficiency	ICGC,
chr14	97763782	97763782	C	T	intergenic	LINC00618,LOC101929241	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	ICGC,
chr4	26005705	26005705	C	T	intergenic	SMIM20,RBPJ	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Adams-Oliver syndrome|Proximal 4p deletion syndrome and epilepsy	ICGC,
chr12	101529013	101529013	G	A	intergenic	ANO4,SLC5A8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,digestive/alimentary phenotype	-,-	ICGC,
chr12	13046641	13046641	T	C	intronic	GPRC5A	unknown	SNV	-	-	-	3.227e-05	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	respiratory system phenotype	 BRCA1-related breast cancer risk, modifier of	ICGC,
chr2	5776215	5776215	G	T	ncRNA_intronic	LINC01248	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25018600	-	LICA-FR|1|252|0.00397	-	-	-	-	COSMIC,ICGC,
chr8	112336241	112336241	G	A	intergenic	KCNV1,CSMD3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	behavior/neurological phenotype,-	-,Schizophrenia  |Colorectal cancer 	ICGC,
chr14	103506864	103506864	C	T	intronic	CDC42BPB	unknown	SNV	-	-	-	3.24e-05	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	Autism|Autism spectrum disorder  |Diffuse large B-cell lymphoma, association 	ICGC,
chr20	19261687	19261687	C	T	exonic	SLC24A3	nonsynonymous	SNV	0.035	0.009	-	-	-	-	-	-	-	COSM4136763	-	OV-AU|1|93|0.01075,MELA-AU|1|183|0.00546	-	-	-	-	COSMIC,ICGC,
chr8	77628846	77628846	G	A	intronic	ZFHX4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Tetralogy of Fallot|Intellectual disability with facial anomalies|Intellectual disability and dysmorphisms|Bilateral isolated ptosis 	ICGC,
chr2	25096196	25096196	C	A	intronic	ADCY3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-AU|1|391|0.00256	-	-	mortality/aging	Body mass index, association with 	ICGC,
chr6	81268069	81268069	A	T	intergenic	BCKDHB,FAM46A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	Maple syrup urine disease,Tuberculosis, susceptibility to 	ICGC,
chr2	191117329	191117329	C	T	intronic	HIBCH	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	Neurodegeneration, progressive infantile|Potential protein deficiency	ICGC,
chr9	43851403	43851403	-	CT	ncRNA_intronic	CNTNAP3P2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr2	156642553	156642553	T	G	intergenic	KCNJ3,AC093375.1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BOCA-FR|1|98|0.01020	-	-	cardiovascular system phenotype,-	Schizophrenia, association with  ,-	ICGC,
chr2	81319055	81319055	C	T	intergenic	CTNNA2,LOC100507201	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,-	Schizophrenia,-	ICGC,
chr15	64232949	64232949	T	G	intronic	DAPK2	unknown	SNV	-	-	-	0.0015	rs533363592	-	0.00199681	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-	-	ICGC,
chr5	175174690	175174690	G	A	intergenic	HRH2,CPLX2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	behavior/neurological phenotype,mortality/aging	Schizophrenia, association with,Reduced cognitive performance, in schizophrenia, association with	ICGC,
chr6	53561837	53561837	A	G	intergenic	KLHL31,LRRC1	unknown	SNV	-	-	-	0.1714	rs11758008	-	0.159944	-	0.080	-	-	LAML-KR|1|205|0.00488	-	-	-,-	-,-	ICGC,
chr13	23453689	23453689	C	T	intergenic	LINC00540,BASP1P1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538,MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	32512397	32512397	G	A	intergenic	ZFR,SUB1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Spastic paraplegia 71|Schizophrenia,-	ICGC,
chr6	26184011	26184011	C	T	upstream	HIST1H2BE	unknown	SNV	-	-	0.0048	0.0018	rs116848504	0.0043	0.00299521	0.0002	-	-	-	COCA-CN|1|321|0.00312	-	-	-	Schizophrenia	ICGC,
chr13	82984117	82984117	T	C	intergenic	SPRY2,SLITRK1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6234116	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging,mortality/aging	Cleft lip ,Trichotillomania|Tourette syndrome|Obsessive-compulsive disorder |Attention deficit hyperactivity disorder 	COSMIC,ICGC,
chr4	186603667	186603667	G	A	intronic	SORBS2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Schizophrenia	ICGC,
chr12	103518326	103518326	G	T	intergenic	ASCL1,C12orf42	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8692207	-	OV-AU|1|93|0.01075,MALY-DE|1|241|0.00415	-	-	integument phenotype,-	Central hypoventilation syndrome|Intellectual disability  |Parkinson disease, protection against ,-	COSMIC,ICGC,
chr5	160999566	160999566	C	T	intergenic	GABRB2,GABRA6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	skeleton phenotype,behavior/neurological phenotype	-,Idiopathic epilepsy, generalised 	ICGC,
chr11	60391208	60391208	T	C	ncRNA_intronic	LINC00301	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr8	124871792	124871792	T	C	intronic	FER1L6	unknown	SNV	-	-	-	0.0002	-	-	-	-	-	COSN16973393	-	PRAD-CA|1|308|0.00325,PBCA-US|1|186|0.00538	-	-	-	-	COSMIC,ICGC,
chr12	131663889	131663889	A	T	ncRNA_intronic	LINC01257	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16018988	-	PACA-CA|1|268|0.00373	-	-	-	-	COSMIC,COSMIC,ICGC,
chr5	133744202	133744202	-	AA	intronic	CDKN2AIPNL	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	-	ICGC,
chr4	156077312	156077312	C	T	intergenic	RBM46,NPY2R	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Huntington disease, age at onset, association with|Severe obesity, in men, association with|Obesity, association with|Obesity |Increased expression levels|Hypertension reduced risk	ICGC,
chr11	26329305	26329305	-	TAA	intergenic	LUZP2,ANO3	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|2|67|0.02985	-	-	normal phenotype,-	Anorectal malformation,Craniocervical dystonia|Dystonia, primary torsion	ICGC,
chr5	150593313	150593313	C	T	intronic	CCDC69	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22021317	-	BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr14	87565243	87565243	C	T	intergenic	LOC283585,GALC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Krabbe disease, association with|Krabbe disease|Glaucoma, primary open-angle|Glaucoma, primary open angle	ICGC,
chr1	110134700	110134700	C	T	exonic	GNAI3	stopgain	SNV	-	-	4.066e-06	-	rs747084694	8.255e-06	-	-	-	COSM1732833	-	-	-	-	immune system phenotype	Auriculocondylar syndrome	COSMIC,
chr7	51958587	51958587	C	T	intergenic	COBL,POM121L12	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	nervous system phenotype,-	-,-	ICGC,
chr4	125838395	125838395	C	T	intergenic	ANKRD50,FAT4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	Schizophrenia,Periventricular neuronal heterotopia|Schizophrenia	ICGC,
chr2	143232948	143232948	G	A	intergenic	LRP1B,KYNU	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Schizophrenia   ,Xanthurenic aciduria|Schizophrenia  |Essential hypertension, association with	ICGC,
chr2	171867058	171867058	G	C	intronic	TLK1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Potential protein deficiency|Schizophrenia  	ICGC,
chr9	106657928	106657928	C	T	intergenic	LOC101928496,LOC101928523	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	161731245	161731245	C	T	intergenic	GABRG2,CCNG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,mortality/aging	Seizures, generalized tonic-clonic|Myoclonic epilepsy of infancy |Generalized epilepsy with febrile seizures plus|Febrile seizures|Epilepsy, susceptibility to|Epilepsy, idiopathic generalised  |Epilepsy, childhood absence with febrile seizures|Dravet syndrome,-	ICGC,
chr15	46992964	46992964	A	-	intergenic	SQRDL,SEMA6D	unknown	deletion	-	-	-	0.0002	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,immune system phenotype	-,Developmental language disorder 	ICGC,
chr7	146442628	146442628	A	C	intronic	CNTNAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype	Gilles de la Tourette syndrome|Intellectual disability  |Learning disability & speech problems|Mental retardation |Mental retardation, Pitt-Hopkins-like|Multiple congenital anomalies  |Seizures, neonatal |Speech delay  |Stuttering |Epileptic encephalopathy  |Epilepsy and schizophrenia|Autism|Autism spectrum disorder |Autism spectrum disorder, modifier of|Childhood apraxia of speech|Cortical dysplasia-focal epilepsy syndrome|Developmental and/or speech and/or behavioural problems|Developmental delay  |Developmental delay & dysmorphic features|Dyslexia 	ICGC,
chr17	13857257	13857257	T	A	intergenic	HS3ST3A1,CDRT15P1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr5	62664834	62664834	-	A	intergenic	IPO11,HTR1A	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN23515552	-	-	-	-	-,mortality/aging	-,Tourette syndrome |Reduced expression|Personality disorders, association with.|Menstrual cycle-dependent fever|Major depression and suicide, association with|Major depression|Impulsive behaviour, association with|Epileptic seizures |Comorbid depression and generalized anxiety, association with|Attenuated agonist-mediated receptor down-regulation and desensitization	COSMIC,
chr13	85933749	85933749	T	C	intergenic	LINC00333,LINC00351	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6540707	-	PBCA-DE|1|499|0.00200	-	-	-,-	-,-	COSMIC,ICGC,
chr1	184867506	184867506	G	A	intronic	FAM129A	unknown	SNV	-	-	-	-	rs551426983	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	normal phenotype	-	ICGC,
chr5	145417107	145417107	C	T	intronic	SH3RF2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr8	65804289	65804289	C	T	intergenic	CYP7B1,LINC00251	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Spastic paraplegia 5a.|Spastic paraplegia 5a|Spastic paraplegia 5 with sensory ataxia|Spastic paraplegia 5|Spastic paraplegia|Increased transcriptional activity|HIV 1 infection, reduced risk, association with|Cholestasis, severe,-	ICGC,
chrX	141810711	141810711	C	G	intergenic	MAGEC2,SPANXN4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26895012	-	UTCA-FR|1|20|0.05000	-	-	-,-	-,-	COSMIC,ICGC,
chr2	77711992	77711992	A	C	intronic	LRRTM4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr1	247252228	247252228	G	T	intergenic	ZNF670-ZNF695,ZNF669	unknown	SNV	-	-	-	0.0295	rs73133844	-	-	-	0.051	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr13	36338458	36338458	C	T	ncRNA_intronic	MIR548F5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7399597	-	PACA-AU|1|391|0.00256	-	-	-	-	COSMIC,ICGC,
chr1	215632810	215632810	T	-	intergenic	KCNK2,KCTD3	unknown	deletion	-	-	-	0.0005	rs545364238	-	-	-	-	COSN25683248	-	BTCA-SG|2|71|0.02817,MALY-DE|2|241|0.00830	-	-	mortality/aging,-	-,-	COSMIC,ICGC,
chrY	14225735	14225735	G	A	intergenic	NONE,GYG2P1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr9	22058026	22058026	G	A	ncRNA_intronic	CDKN2B-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Stroke, association with|Coronary artery disease, association with	ICGC,
chr5	101203934	101203934	G	A	intergenic	ST8SIA4,SLCO4C1	unknown	SNV	-	-	-	3.234e-05	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,-	-,-	ICGC,
chr5	78303616	78303616	A	G	intronic	DMGDH	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-	Dimethylglycine dehydrogenase deficiency	ICGC,
chr1	74317825	74317825	G	T	intergenic	LINC01360,LRRIQ3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	-,-	ICGC,
chr1	101673032	101673032	T	C	intergenic	LOC102606465,LOC101928370	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BOCA-UK|1|130|0.00769	-	-	-,-	-,-	ICGC,
chr11	74790757	74790757	G	A	intergenic	NEU3,OR2AT4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	homeostasis/metabolism phenotype,-	-,-	ICGC,
chr10	108797861	108797861	G	A	intronic	SORCS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26931526	-	UTCA-FR|1|20|0.05000	-	-	other phenotype	Autism 	COSMIC,ICGC,
chr14	81063550	81063550	A	T	intronic	CEP128	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr1	213229804	213229804	T	C	intronic	RPS6KC1	unknown	SNV	-	-	-	0.0290	rs77358546	-	0.0233626	-	0.022	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr21	41612041	41612041	G	A	intronic	DSCAM	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Bipolar disorder, association with 	ICGC,
chr2	30239320	30239320	A	G	intergenic	ALK,YPEL5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	Medulloblastoma |Neuroblastoma,-	ICGC,
chr19	9438944	9438944	A	G	intronic	ZNF559,ZNF559-ZNF177	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr7	100652431	100652431	G	A	exonic	MUC12	nonsynonymous	SNV	0.021	-	5.636e-05	-	rs377748854	9.487e-05	0.000199681	0.0004	-	COSM3941918	-	ESCA-CN|1|332|0.00301	-	-	-	-	COSMIC,COSMIC,ICGC,
chr10	108174893	108174893	G	A	intergenic	LOC101927549,SORCS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,other phenotype	-,Autism 	ICGC,
chr12	82213831	82213831	A	G	intergenic	PPFIA2,LOC101928449	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr9	6346255	6346255	A	G	intergenic	TPD52L3,UHRF2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	ICGC,
chr2	141580419	141580419	T	C	intronic	LRP1B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Schizophrenia   	ICGC,
chr6	38024692	38024692	T	A	intronic	ZFAND3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN18854315	-	-	-	-	-	Diabetes, type 2, association with	COSMIC,
chr4	70463745	70463745	G	A	intronic	UGT2A1,UGT2A2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|4|183|0.02186	-	-	-,-	Autism spectrum disorder|Altered enzyme activity,-	ICGC,
chr5	120111334	120111334	T	A	intergenic	PRR16,LOC102467226	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25926750	-	EOPC-DE|1|202|0.00495	-	-	-,-	-,-	COSMIC,ICGC,
chr11	120673341	120673343	AGG	-	intronic	GRIK4	unknown	deletion	-	-	-	-	-	-	-	-	-	COSN20121882	-	-	-	-	behavior/neurological phenotype	Modulated hippocampal function, association with|Biopolar disorder, protection, association with	COSMIC,
chr4	169931073	169931073	C	A	intronic	CBR4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21942928	-	BRCA-EU|1|569|0.00176	-	-	-	Schizophrenia	COSMIC,ICGC,
chr7	114529246	114529246	C	T	intergenic	FOXP2,MDFIC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Verbal dyspraxia, dysmorphism and developmental delay|Verbal apraxia & dysarthria|Verbal apraxia|Speech impairment, developmental delay & congenital anomalies|Speech disorder, global development & psychomotor delay|Mental retardation, dysmorphia and language delay|Left opercular polymicrogyria|Dyspraxia and language delay|Developmental verbal dyspraxia|Childhood apraxia of speech|Autism spectrum disorder ,-	ICGC,
chr20	7053113	7053113	A	G	intergenic	BMP2,LINC01428	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	mortality/aging,-	Wolff-Parkinson-White syndrome|Wolff-Parkinson-White & Alagille syndrome|Thymoma and autoimmune disease |Reduced fat and increased muscle mass, association with|Orofacial cleft palate|Decreased mRNA stability|Colorectal cancer, increased risk, association with|Cleft palate  |Brachydactyly type A2|Bone mass, association with ,-	ICGC,
chr7	63389550	63389550	C	T	intergenic	MIR4283-2,LINC01005	unknown	SNV	-	-	-	0.0413	rs12673815	-	0.0926518	-	0.058	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr6	28906046	28906048	TTA	-	intergenic	TRIM27,C6orf100	unknown	deletion	-	-	-	6.515e-05	rs376640603	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	immune system phenotype,-	-,-	ICGC,
chr2	79383998	79383998	G	A	downstream	REG3A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	homeostasis/metabolism phenotype	-	ICGC,
chr4	34303822	34303822	G	A	intergenic	NONE,ARAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	41555734	41555734	A	G	intronic	ULK4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Multiple sessile serrated adenoma|Multiple myeloma, increased risk	ICGC,
chr7	53396187	53396187	C	T	intergenic	POM121L12,LINC01446	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	ICGC,
chr4	161290318	161290318	G	T	intergenic	RAPGEF2,FSTL5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	integument phenotype,-	-,Schizophrenia  |Rolandic epilepsy 	ICGC,
chr5	114299446	114299450	AAAAT	-	intergenic	KCNN2,TRIM36	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype,-	-,-	ICGC,
chr4	43794752	43794752	G	A	intergenic	GRXCR1,KCTD8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,-	Hearing impairment, nonsyndromic, autosomal recessive,-	ICGC,
chr12	52485641	52485641	A	G	ncRNA_intronic	OR7E47P	unknown	SNV	-	-	-	0.2346	rs3817606	-	0.323882	-	0.319	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr7	115764847	115764847	G	A	intergenic	TFEC,TES	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,digestive/alimentary phenotype	-,-	ICGC,
chr5	54153484	54153484	G	C	intergenic	LOC102467080,ESM1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	-,-	ICGC,
chr7	125461085	125461085	G	T	intergenic	LOC101928283,GRM8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,behavior/neurological phenotype	-,Attention deficit hyperactivity disorder|Autism spectrum disorder  	ICGC,
chr14	19024827	19024827	C	T	intergenic	NONE,OR11H12	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26085596	-	ESAD-UK|1|301|0.00332,MELA-AU|1|183|0.00546	-	-	-,-	-,-	COSMIC,ICGC,
chr21	24532261	24532261	G	A	intergenic	LINC00308,D21S2088E	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	2238387	2238387	C	A	intronic	MYT1L	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	Schizophrenia, childhood onset  |Schizophrenia  |Intellectual disability, obesity, hyperphagia & behavioural difficulties|Intellectual disability, obesity & hyperactivity|Intellectual disability  |Brain malformations |Autism 	ICGC,
chr8	91857628	91857628	A	T	intronic	NECAB1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	-	-	ICGC,
chr13	94800692	94800692	G	A	intronic	GPC6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Omodysplasia|Pancreatic cancer 	ICGC,
chr7	53839113	53839113	A	G	ncRNA_intronic	LINC01446	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-	-	ICGC,
chr7	10541612	10541612	G	A	intergenic	PER4,NDUFA4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|2|183|0.01093	-	-	-,-	-,Complex I deficiency|Cytochrome c oxidase deficiency	ICGC,
chrX	38944678	38944678	C	A	intergenic	MID1IP1,LINC01281	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr10	88517617	88517617	G	A	intronic	BMPR1A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8724607	-	OV-AU|1|93|0.01075	-	-	integument phenotype	Tetralogy of Fallot|Polyposis, juvenile intestinal|Multiple adenoma|Mixed polyposis syndrome|Juvenile polyposis syndrome|Juvenile polyposis of infancy|Gastrointestinal polyposis, late onset|Gastrointestinal polyposis|Cowden / Bannayan-Riley-Ruvalcaba syndromes|Congenital heart defect, facial dysmorphism & anomalous growth|Colorectal cancer, non-polyposis|Colorectal cancer, early onset	COSMIC,ICGC,
chr18	23150429	23150429	T	-	intergenic	ZNF521,SS18	unknown	deletion	-	-	-	-	-	-	-	-	-	COSN23369697	-	MALY-DE|1|241|0.00415	-	-	skeleton phenotype,mortality/aging	-,-	COSMIC,ICGC,
chr11	21735350	21735350	T	A	intergenic	NELL1,ANO5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	mortality/aging,-	Crohn disease, association with,Persistent asymptomatic hyperCKemia|Myopathy of posterior calf muscles, late-onset|Myopathy / muscular dystrophy|Myopathy  |Muscular dystrophy, limb girdle 2L.|Muscular dystrophy, limb girdle 2L|Muscular dystrophy  |Miyoshi-like distal myopathy|Miyoshi myopathy, non-dysferlin|Miyoshi distal myopathy.|Miyoshi distal myopathy|Gnathodiaphyseal dysplasia|Autism 	ICGC,
chr12	80800868	80800871	TGTG	-	intergenic	OTOGL,PTPRQ	unknown	deletion	-	-	-	-	rs761726700	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	-,behavior/neurological phenotype	Sensorineural hearing loss  |Deafness  |Autism spectrum disorder,Deafness, non-syndromic |Hearing loss  |Nonsyndromic hearing impairment DFNB84	ICGC,
chr1	146707647	146707647	G	A	intergenic	FMO5,CHD1L	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	FMO5 variant,Lung cancer, susceptibility to, association with|Congenital anomalies of the kidney and urinary tract 	ICGC,
chr13	113398488	113398488	C	T	intronic	ATP11A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr2	212622357	212622357	G	T	intronic	ERBB4	unknown	SNV	-	-	-	3.229e-05	-	-	-	-	-	COSN14973527	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype	Schizophrenia |Oligohydramnios|Intellectual disability, hyperactivity & speech developmental delay|Increased promoter activity|Hepatocellular carcinoma, increased risk, association with|Epileptic encephalopathy, early infantile 3|Breast and colorectal cancer, association with|Bipolar disorder, association with |Bipolar disorder |Autism spectrum disorder  |Amyotrophic lateral sclerosis type 19	COSMIC,ICGC,
chr21	23492976	23492976	G	A	intergenic	LINC00308,D21S2088E	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	167834972	167834972	G	A	intronic	XIRP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Schizophrenia	ICGC,
chr8	128995209	128995209	G	T	ncRNA_intronic	PVT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	no phenotypic analysis	Prostate cancer risk, association with	ICGC,
chr3	149408236	149408236	-	A	intronic	WWTR1	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN23163262	-	-	-	-	mortality/aging	-	COSMIC,
chr16	48334236	48334236	C	T	ncRNA_intronic	MIR548AE2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr3	159857557	159857557	C	T	ncRNA_intronic	IL12A-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr15	84253838	84253838	G	A	intronic	SH3GL3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr4	60029944	60029944	G	A	intergenic	IGFBP7-AS1,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	83973001	83973001	-	CCAC	intergenic	EDIL3,NBPF22P	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	immune system phenotype,-	Schizophrenia  ,-	ICGC,
chr2	219915426	219915426	C	T	intergenic	CCDC108,IHH	unknown	SNV	-	-	-	6.465e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	Potential protein deficiency,Acrocallosal-like syndrome|Acrocapitofemoral dysplasia|Brachydactyly type A1|Syndactyly I |Syndactyly, Philadelphia type 	ICGC,
chr3	46449633	46449633	G	A	exonic	CCRL2	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM5603108	-	MELA-AU|1|183|0.00546	-	-	immune system phenotype	AIDS & pneumocystis pneumonia, association with 	COSMIC,ICGC,
chr20	16838057	16838057	C	T	intergenic	OTOR,PCSK2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	Non-syndromic hearing impairment, association with|Sensorineural hearing loss, nonsyndromic  ,Diabetes, type 2, association with	ICGC,
chr2	33205616	33205616	T	C	intronic	LTBP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Increased expression |Autism	ICGC,
chr2	194172372	194172372	A	T	intergenic	PCGEM1,LOC101927406	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr7	113034248	113034248	T	G	intergenic	LINC00998,PPP1R3A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,growth/size phenotype	-,Insulin resistance, association with|Insulin resistance|Glycemia variation, association with	ICGC,
chr1	32684214	32684214	A	C	intronic	TMEM234	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-	-	ICGC,
chr20	57248167	57248167	A	T	ncRNA_intronic	STX16-NPEPL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-	-	ICGC,
chr2	1906986	1906986	T	A	exonic	MYT1L	nonsynonymous	SNV	0.001	1.0	-	-	-	-	-	-	-	-	-	LUSC-US|1|194|0.00515	-	-	-	Schizophrenia, childhood onset  |Schizophrenia  |Intellectual disability, obesity, hyperphagia & behavioural difficulties|Intellectual disability, obesity & hyperactivity|Intellectual disability  |Brain malformations |Autism 	ICGC,
chr19	6309585	6309585	C	T	intronic	ACER1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr6	89787107	89787107	-	GGT	intergenic	RNGTT,PNRC1	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN2182482	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr15	90065232	90065232	C	T	ncRNA_intronic	LINC00928	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-	-	ICGC,
chr1	152285861	152285861	G	T	exonic	FLG	synonymous	SNV	-	-	8.126e-06	-	rs61816761	8.236e-06	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	integument phenotype	Genetic modifier in pachyonychia congenita|Fissured skin on hands of patients without dermatitis|Eczema, association with and Asthma, association with|Eczema, association with|Eczema |Contact sensitization, in individuals with dermatitis, association with.|Hand eczema, association|Ichthyosis vulgaris|Ichthyosis vulgaris and wheat-dependent        exercise-induced anaphylaxis.|Peanut allergy, association with|Potential protein deficiency|Psoriasis|Psoriasis vulgaris|Psoriasis, increased risk, association with|Chronic irritant contact dermatitis, association with.|Autism spectrum disorder|Autism|Allergen sensitization, association with|Asthma & atopic dermatitis|Atopic asthma  |Atopic asthma and dermatitis, asssociation with|Atopic asthma, association with|Atopic dermatitis  |Atopic dermatitis / eczema herpeticum|Atopic dermatitis & asthma, increased risk, association with|Atopic dermatitis and asthma|Atopic dermatitis, association with|Atopic dermatitis, increased risk, association with|Atopic dermatitis, reduced risk, association with|Atopic disease, association with|Atopic eczema 	ICGC,
chr4	177902780	177902780	C	A	intergenic	VEGFC,NEIL3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20255095	-	PACA-CA|1|268|0.00373	-	-	mortality/aging,immune system phenotype	Lymphoedema, primary, Milroy-like,-	COSMIC,ICGC,
chr3	13179917	13179917	C	A	intergenic	IQSEC1,NUP210	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9237310	-	OV-AU|1|93|0.01075	-	-	nervous system phenotype,-	-,Schizophrenia	COSMIC,ICGC,
chr2	162956463	162956463	C	T	intergenic	DPP4,LOC101929532	unknown	SNV	-	-	-	3.23e-05	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	endocrine/exocrine gland phenotype,-	Autism spectrum disorder,-	ICGC,
chr19	6743229	6743231	CAG	-	exonic	TRIP10	unknown	deletion	-	-	-	-	-	-	-	-	-	COSM4336694	-	-	-	-	hematopoietic system phenotype	-	COSMIC,COSMIC,COSMIC,
chr5	3066594	3066594	T	G	intergenic	C5orf38,LINC01377	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8629758	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr18	26761093	26761093	C	T	intergenic	CDH2,MIR302F	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Reduced expression|Potential protein deficiency|Alzheimer disease  ,-	ICGC,
chr1	37814399	37814399	G	A	intergenic	MIR4255,LINC01137	unknown	SNV	-	-	-	0.0003	rs552531870	-	0.000399361	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr6	78311760	78311760	A	G	intergenic	HTR1B,MEI4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN4861735	-	MALY-DE|1|241|0.00415	-	-	skeleton phenotype,-	Suicidal ideation, in major depression, association with|Receptor variant|Alcohol dependence, association with|Alcohol and drug abuse, association with|Aggressive behaviour, association with,-	COSMIC,ICGC,
chr2	62106470	62106470	C	A	intronic	CCT4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9382552	-	OV-AU|1|93|0.01075	-	-	-	-	COSMIC,ICGC,
chr15	50104732	50104732	C	T	intergenic	DTWD1,ATP8B4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr8	49010848	49010849	GT	-	intergenic	UBE2V2,LOC101929268	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr8	49149713	49149713	C	T	intergenic	UBE2V2,LOC101929268	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	61985769	61985769	C	T	intergenic	NONE,LPHN3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,behavior/neurological phenotype	-,-	ICGC,
chr16	8346357	8346357	C	A	intergenic	RBFOX1,TMEM114	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	mortality/aging,-	Muscular and feet abnormalities|Mental retardation|Epilepsy, rolandic  |Epilepsy|Developmental delay, facial dysmorphism  |Developmental delay and transposition of the great arteries|Developmental delay and diplegia|Developmental delay and craniosynostosis|Developmental delay  |Cardiac defects|Cardiac abnormalities, micrognathia and scoliosis|Autism spectrum disorder|Autism|Attention deficit hyperactivity disorder ,Developmental delay|Cataract, congenital	ICGC,
chrX	3020186	3020186	A	T	intronic	ARSF	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-	Autism spectrum disorder|Potential protein deficiency	ICGC,
chr11	108923673	108923673	C	T	intergenic	DDX10,C11orf87	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Intellectual disability  ,-	ICGC,
chr1	233778699	233778699	T	-	intronic	KCNK1	unknown	deletion	-	-	-	-	-	-	-	-	0.007	-	-	LMS-FR|1|67|0.01493	-	-	homeostasis/metabolism phenotype	-	ICGC,
chr1	73449671	73449671	A	C	intergenic	NEGR1,LINC01360	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19020093	-	CLLE-ES|1|510|0.00196	-	-	behavior/neurological phenotype,-	Obesity, association with|Dyslexia |Body mass index, association with|Attention deficit hyperactivity disorder,-	COSMIC,ICGC,
chr1	83536754	83536754	G	T	intergenic	LINC01361,LOC101927587	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr9	26263089	26263089	T	C	intergenic	LOC100506422,CAAP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	ICGC,
chr8	59971636	59971636	T	C	intronic	TOX	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	hematopoietic system phenotype	Pulmonary tuberculosis, association  with	ICGC,
chr19	32334690	32334690	C	T	intergenic	THEG5,CTC-360P9.3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr7	68058081	68058081	G	A	intergenic	LOC102723427,LOC100507468	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr7	32919982	32919982	C	T	intronic	KBTBD2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	-	-	ICGC,
chr13	67390994	67390994	T	A	intronic	PCDH9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr1	73220408	73220408	C	T	intergenic	NEGR1,LINC01360	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	behavior/neurological phenotype,-	Obesity, association with|Dyslexia |Body mass index, association with|Attention deficit hyperactivity disorder,-	ICGC,
chr8	25864507	25864507	T	G	intronic	EBF2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging	-	ICGC,
chr4	168875103	168875103	T	C	intergenic	SPOCK3,ANXA10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr12	105699867	105699867	G	C	intergenic	APPL2,C12orf75	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5830957	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr4	20404272	20404272	T	C	intronic	SLIT2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6822254	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging	Schizophrenia  	COSMIC,ICGC,
chr3	127195769	127195769	C	T	intergenic	LOC101927123,TPRA1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	1833046	1833046	G	A	intronic	LETM1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	Wolf-Hirschhorn syndrome |Wolf-Hirschhorn syndrome without facial features|Wolf-Hirschhorn syndrome, neuromuscular features	ICGC,
chr7	153414276	153414276	A	T	intergenic	ACTR3B,DPP6	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7657060	-	PACA-CA|1|268|0.00373	-	-	-,nervous system phenotype	-,Autism spectrum disorder  |Schizophrenia  |Ventricular fibrillation, idiopathic 	COSMIC,ICGC,
chr13	94245601	94245601	G	A	intronic	GPC6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	Omodysplasia|Pancreatic cancer 	ICGC,
chr19	30339963	30339963	G	A	intergenic	CCNE1,URI1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	integument phenotype,-	Nasopharyngeal carcinoma, increased risk, association with,-	ICGC,
chr9	16956649	16956649	T	A	intergenic	BNC2,CNTLN	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	Total anomalous pulmonary venous return |Partial anomalous pulmonary venous return |Hypospadias & partial anomalous pulmonary venous return |Hypospadias ,-	ICGC,
chr20	14766882	14766882	-	GAGAGAGAGAGAGAGA	intronic	MACROD2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	Kabuki syndrome|Attention deficit hyperactivity disorder 	ICGC,
chr18	24714577	24714577	A	C	intronic	CHST9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr17	13188080	13188080	G	A	intergenic	ELAC2,HS3ST3A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	Prostate cancer, association with|Prostate cancer|Hypertrophic cardiomyopathy and complex I deficiency|Benign prostatic hyperplasia, association with,-	ICGC,
chr12	10125981	10125981	A	G	intronic	CLEC12A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN10096061	-	RECA-EU|1|422|0.00237	-	-	-	-	COSMIC,ICGC,
chr15	46195435	46195435	C	T	intergenic	SQRDL,SEMA6D	unknown	SNV	-	-	-	0.0156	rs145904705	-	0.00579073	-	0.007	-	-	ESAD-UK|1|301|0.00332	-	-	-,immune system phenotype	-,Developmental language disorder 	ICGC,
chr2	80119053	80119053	T	C	intronic	CTNNA2	unknown	SNV	-	-	-	0.0328	rs79009816	-	0.0940495	-	0.080	-	-	LAML-KR|1|205|0.00488	-	-	mortality/aging	Schizophrenia	ICGC,
chr7	10321810	10321816	GCCATGG	-	intergenic	PER4,NDUFA4	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,Complex I deficiency|Cytochrome c oxidase deficiency	ICGC,
chr4	44948896	44948896	G	A	intergenic	GNPDA2,GABRG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	17023046	17023046	C	T	intergenic	FAM49A,RAD51AP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr8	59163617	59163617	C	T	intergenic	FAM110B,LOC101929528	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,-	-,-	ICGC,
chr1	45974478	45974479	GT	-	exonic	MMACHC	frameshift	deletion	-	-	1.63e-05	3.231e-05	rs777210603	1.734e-05	-	-	-	-	-	-	not_provided	-	-	cblC deficiency|cblC deficiency.|Haemolytic uraemic syndrome, atypical|Haemolytic uraemic syndrome.|Methylmalonic aciduria|Methylmalonic aciduria & homocystinuria, cblC type	ClinVar,
chr17	12487485	12487485	C	T	ncRNA_intronic	LINC00670	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr4	91713088	91713088	C	T	intronic	CCSER1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,LUSC-KR|1|170|0.00588	-	-	-	-	ICGC,
chr4	97248068	97248068	T	G	intergenic	PDHA2,STPG2-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25204858	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	COSMIC,ICGC,
chrX	3247484	3247484	G	A	intronic	MXRA5	unknown	SNV	-	-	-	0.0058	rs5939494	-	-	-	0.014	-	-	SKCA-BR|5|100|0.05000	-	-	-	Autism spectrum disorder	ICGC,
chr4	117189509	117189509	G	A	intergenic	NDST4,MIR1973	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-,-	-,-	ICGC,
chr14	52292448	52292448	G	C	intergenic	FRMD6,GNG2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-UK|1|140|0.00714	-	-	-,-	Asthma, increased risk, association with,-	ICGC,
chr6	157481567	157481567	C	T	intronic	ARID1B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	Schizophrenia|Nicolaides-Baraitser syndrome|Intellectual disability, plantar fat pads & facial dysmorphism|Intellectual disability, corpus callosum abnormalities, speech impairment & autism|Intellectual disability & speech impairment|Intellectual disability & agenesis of corpus callossum|Intellectual disability  |Developmental delay, dysmorphic features, dysgenesis of the corpus callosum, limb anomalies & genital hypoplasia|Coffin-Siris syndrome|Autism?|Autism spectrum disorder|Autism	ICGC,
chr2	45423341	45423341	T	G	ncRNA_intronic	LINC01121	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr1	189856035	189856035	A	T	intergenic	NONE,BRINP3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	46043103	46043103	T	C	exonic	GABRG1	nonsynonymous	SNV	0.139	0.009	-	-	-	-	-	-	-	-	-	CMDI-UK|1|136|0.00735	-	-	-	-	ICGC,
chr6	117259820	117259820	G	A	intergenic	RFX6,VGLL2	unknown	SNV	-	-	-	0.0025	rs534866959	-	0.00119808	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging,-	Diabetes, neonatal, with intestinal atresia|Prostate cancer, susceptibility to ,-	ICGC,
chr15	46184527	46184527	A	T	intergenic	SQRDL,SEMA6D	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,immune system phenotype	-,Developmental language disorder 	ICGC,
chr1	81197109	81197109	T	C	intergenic	ELTD1,LPHN2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	normal phenotype,mortality/aging	-,Schizophrenia	ICGC,
chr3	68523893	68523893	A	G	intronic	FAM19A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-	-	ICGC,
chr20	53710872	53710872	G	A	intergenic	DOK5,LINC01441	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr9	4045792	4045792	G	A	intronic	GLIS3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16329714	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging	Diabetes, permanent neonatal|Diabetes, type 1, resistance to|Neonatal diabetes & congenital hypothyroidism|Neural tube defects	COSMIC,ICGC,
chr21	47877163	47877163	T	A	intergenic	PCNT,DIP2A	unknown	SNV	-	-	-	0.0001	rs373492288	-	-	-	-	COSN16553456	-	PACA-CA|1|268|0.00373	-	-	mortality/aging,-	Seckel syndrome|Schizophrenia|Primordial dwarfism|Microcephalic osteodysplastic primordial dwarfism type II|Microcephalic osteodysplastic primordial dwarfism type 2|Microcephalic osteodysplastic primordial dwarfism|Intellectual disability  ,Autism	COSMIC,ICGC,
chr12	68354479	68354479	G	C	ncRNA_intronic	LOC101927922	unknown	SNV	-	-	-	0.2437	rs11176971	-	0.400359	-	0.232	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr20	45023085	45023085	C	G	exonic	ELMO2	nonsynonymous	SNV	0.328	0.996	-	-	-	-	-	-	-	COSM3770822	CESC|1|194|0.00515	BRCA-EU|1|569|0.00176,CESC-US|1|194|0.00515,PACA-AU|1|391|0.00256	-	-	-	-	COSMIC,TCGA,ICGC,
chr14	53791370	53791370	T	C	intergenic	LOC101927620,MIR5580	unknown	SNV	-	-	-	0.5064	rs1345971	-	0.589058	-	0.536	-	-	LAML-KR|2|205|0.00976	-	-	-,-	-,-	ICGC,
chr2	240969197	240969197	G	C	exonic	OR6B2	stopgain	SNV	-	-	-	-	-	-	-	-	-	COSM5781130	-	BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr3	49357894	49357894	-	TAGAAA	intronic	USP4	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	hematopoietic system phenotype	-	ICGC,
chr7	5732338	5732338	A	C	intronic	RNF216	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-	Hypogonadotropic hypogonadism, ataxia & dementia	ICGC,
chr17	66433145	66433145	-	TATATAT	intronic	PRKAR1A,WIPI1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	mortality/aging,-	Pseudohypoparathyroidism type Ia-like|Primary pigmented nodular adrenocortical disease|Pancreatic neoplasms in Carney complex patients|Myxoma, intracardiac|Hyperandrogenism and subclinical Cushing syndrome.|Cushing syndrome|Carney complex, type 1|Carney complex with pancreatic neoplasms|Carney complex|Acrodysostosis with hormone resistance|Acrodysostosis,-	ICGC,
chr7	7611456	7611456	G	A	intronic	MIOS	unknown	SNV	-	-	-	0.0096	rs75078176	-	0.0105831	-	0.014	-	-	ESAD-UK|1|301|0.00332	-	-	-	Schizophrenia  	ICGC,
chrX	35964742	35964742	C	T	intronic	CXorf22	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr1	45973214	45973214	-	T	exonic	MMACHC	frameshift	insertion	-	-	-	-	-	-	-	-	-	-	-	-	Methylmalonic_acidemia_with_homocystinuria	-	-	cblC deficiency|cblC deficiency.|Haemolytic uraemic syndrome, atypical|Haemolytic uraemic syndrome.|Methylmalonic aciduria|Methylmalonic aciduria & homocystinuria, cblC type	ClinVar,
chr7	122537912	122537912	T	C	intergenic	CADPS2,TAS2R16	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging,-	Autism spectrum disorder,Alcohol dependence, risk, association with|Bitter taste sensitivity, association with|Reduced surface expression	ICGC,
chr4	117615332	117615332	G	A	intergenic	MIR1973,TRAM1L1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr14	36206020	36206020	T	C	ncRNA_intronic	RALGAPA1P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr5	100253938	100253938	-	A	intergenic	ST8SIA4,SLCO4C1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	mortality/aging,-	-,-	ICGC,
chr13	96101777	96101777	T	C	intronic	CLDN10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	-	ICGC,
chr14	33480666	33480666	G	A	intronic	NPAS3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Mental illness|Schizophrenia	ICGC,
chr11	11249650	11249650	A	C	intergenic	ZBED5-AS1,GALNT18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	ICGC,
chr4	158504330	158504330	A	T	intergenic	LOC340017,FAM198B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5807824	-	EOPC-DE|1|202|0.00495	-	-	-,-	-,-	COSMIC,ICGC,
chr6	88640468	88640468	C	A	intergenic	LOC101928911,SPACA1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,reproductive system phenotype	-,-	ICGC,
chr18	972833	972833	C	T	intergenic	ADCYAP1,LINC00470	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,-	Sudden infant death syndrome, association with,-	ICGC,
chr14	66332010	66332010	-	TCTT	intergenic	FUT8,LINC00238	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging,-	Pulmonary emphysema, association with,-	ICGC,
chr5	140777536	140777536	A	T	intronic	PCDHGA1,PCDHGA2,PCDHGA3,PCDHGA4,PCDHGA5,PCDHGA6,PCDHGA7,PCDHGA8,PCDHGB1,PCDHGB2,PCDHGB3,PCDHGB4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9927232	-	RECA-EU|1|422|0.00237	-	-	normal phenotype,-,-,-,-,-,-,-,-,-,-,-	-,-,-,-,-,-,-,Potential protein deficiency,-,-,-,Potential protein deficiency	COSMIC,ICGC,
chr11	83099933	83099933	G	A	intergenic	CCDC90B,DLG2	unknown	SNV	-	-	-	3.238e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	Autism,Schizophrenia and epilepsy|Myopathy  |Intellectual disability, autism and epilepsy|Hypochondriasis|Dysmorphic features & speech delay|Developmental delay and dysmorphic features|Developmental delay  	ICGC,
chr13	86650336	86650336	T	C	intergenic	SLITRK6,MIR4500HG	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24811074	-	GACA-CN|1|123|0.00813	-	-	behavior/neurological phenotype,-	High myopia and sensorineural deafness,-	COSMIC,ICGC,
chr10	33615506	33615506	C	G	intronic	NRP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	-	ICGC,
chr22	44648121	44648121	A	G	intronic	KIAA1644	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15324934	-	PRAD-UK|1|140|0.00714	-	-	-	-	COSMIC,ICGC,
chr6	52638460	52638460	T	C	intergenic	GSTA2,GSTA1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Reduced activity|Post-transplant serum bilirubin levels, association with,Altered promoter activity	ICGC,
chr13	112511376	112511376	G	A	intergenic	TEX29,LINC00354	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	27629773	27629773	-	T	intergenic	STIM2,MIR4275	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	integument phenotype,-	-,-	ICGC,
chrX	45543316	45543316	G	A	intergenic	LINC01204,LOC392452	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr11	122990264	122990264	G	A	intronic	CLMP	unknown	SNV	-	-	-	6.475e-05	rs868403051	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Congenital short-bowel syndrome|Obesity 	ICGC,
chr3	169935627	169935627	C	G	intergenic	PHC3,PRKCI	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	UTCA-FR|1|20|0.05000	-	-	-,mortality/aging	-,-	ICGC,
chr7	137341245	137341245	G	A	exonic	DGKI	synonymous	SNV	-	-	2.03e-05	-	rs139929349	3.295e-05	0.000199681	0.0002	-	-	BLCA|1|396|0.00253	-	-	-	tumorigenesis	-	TCGA,
chr1	196300695	196300695	T	C	intronic	KCNT2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr1	151941367	151941367	A	G	intergenic	THEM4,S100A10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	reproductive system phenotype,integument phenotype	-,-	ICGC,
chr1	232863817	232863817	C	A	ncRNA_exonic	LOC101927683	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr3	169834805	169834805	T	C	intronic	PHC3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	-	ICGC,
chr8	86364653	86364653	T	G	ncRNA_intronic	LOC100996348	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr12	61823602	61823602	C	T	intergenic	SLC16A7,FAM19A2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Autism spectrum disorder,-	ICGC,
chr5	1883045	1883045	-	A	intronic	IRX4	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|5|71|0.07042	-	-	cardiovascular system phenotype	Congenital heart disease |Prostate cancer, susceptibility to 	ICGC,
chr10	69379048	69379048	T	C	intronic	CTNNA3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-	Tourette syndrome |Sinus venosus atrial septal defect|Neural tube defects|Cervical artery dissection|Autism spectrum disorder |Attention deficit hyperactivity disorder |Arrhythmogenic right ventricular cardiomyopathy|Alzheimer disease, increased risk, association with |Adenocarcinoma	ICGC,
chr16	33697546	33697546	G	A	intergenic	RNU6-76P,LINC00273	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,-	-,-	ICGC,
chr5	157981326	157981326	C	T	intergenic	LOC101927697,EBF1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,-	ICGC,
chr2	41355448	41355448	C	T	intergenic	SLC8A1,LOC388942	unknown	SNV	-	-	-	0.3887	rs2374145	-	0.284145	-	0.362	-	-	LAML-KR|1|205|0.00488	-	-	mortality/aging,-	Colorectal cancer, increased risk, association with |Schizophrenia  ,-	ICGC,
chr10	47383842	47383842	T	-	ncRNA_intronic	FAM35DP	unknown	deletion	-	-	-	0.1299	rs368341437	-	0.0167732	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-	-	ICGC,
chr9	92950160	92950160	G	A	intergenic	LOC286370,LOC101927873	unknown	SNV	-	-	-	3.23e-05	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr11	134747906	134747906	G	A	intergenic	LOC283177,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr9	24598447	24598447	A	G	intergenic	IZUMO3,TUSC1	unknown	SNV	-	-	-	0.0808	rs7859588	-	0.0778754	-	0.065	COSN14918270	-	-	-	-	-,-	-,-	COSMIC,
chr7	139821735	139821735	C	T	intronic	KDM7A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr9	29896135	29896141	ATAGAAC	-	intergenic	LINGO2,LINC01242	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	PEME-CA|1|112|0.00893	-	-	-,-	Autism spectrum disorder  |Developmental delay with absent speech,-	ICGC,
chr15	88473315	88473315	C	T	intronic	NTRK3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	mortality/aging	Panic disorder, association with|Obsessive-compulsive disorder, association with|Autism spectrum disorder	ICGC,
chr9	10664440	10664440	G	A	intergenic	PTPRD-AS2,TYRP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Albinism, oculocutaneous  |Albinism, oculocutaneous 3|Melanesian blond hair	ICGC,
chr21	36935188	36935188	G	A	ncRNA_intronic	LOC100506403	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr7	47128879	47128879	C	T	intergenic	IGFBP3,TNS3	unknown	SNV	-	-	-	0.4555	rs6957383	-	0.41274	-	0.420	-	-	ESAD-UK|1|301|0.00332	-	-	behavior/neurological phenotype,mortality/aging	Prostate cancer, increased risk|Plasma IGFBP-3 levels, association with|Pancreatic cancer, clinical outcome, association with|Lung cancer, increased risk, association with|Increased IGFBP-3 levels, association with|IGFBP-3 levels|Higher promoter activity, association with|Drug response, association with|Decreased IGFBP-3 levels, association with|Colorectal cancer, association with,Renal agenesis, pulmonary infections & growth/developmental delay	ICGC,
chr2	129517200	129517200	C	T	intergenic	HS6ST1,LOC101927881	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Potential protein deficiency|Kallmann syndrome|Hypogonadotropic hypogonadism, idiopathic,-	ICGC,
chr12	126630206	126630206	T	A	intergenic	LOC101927464,LOC100128554	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	ICGC,
chr2	85335447	85335447	C	T	intergenic	KCMF1,TCF7L1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,mortality/aging	-,Glaucoma, primary congenital|Autism 	ICGC,
chr5	140228561	140228561	G	T	exonic	PCDHA9	nonsynonymous	SNV	0.0	1.0	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr6	105406071	105406071	G	T	exonic	LIN28B	nonsynonymous	SNV	0.0	1.0	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	Epithelial ovarian cancer, reduced risk, association|Epithelial ovarian cancer, increased risk, association 	ICGC,
chr3	83830229	83830229	A	C	intergenic	GBE1,LINC00971	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Potential protein deficiency|Polyglucosan body disease, relapsing-remitting form|Polyglucosan body disease, adult|Lethal multiple pterygium syndrome|Glycogen storage disease 4, non-lethal neuromuscular|Glycogen storage disease 4, neonatal|Glycogen storage disease 4|Autism spectrum disorder|Adult polyglucosan body disease,-	ICGC,
chr17	70687471	70687471	G	A	intronic	SLC39A11	unknown	SNV	-	-	-	0.0003	rs140100046	-	0.000998403	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-	-	ICGC,
chr1	188592831	188592831	G	A	intergenic	PLA2G4A,BRINP3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Asthma, association with|Cryptogenic multifocal ulcerating stenosing enteritis|Increased enzyme activity|Prostanoid biosynthesis deficiency,-	ICGC,
chr1	167124525	167124525	G	A	intergenic	DUSP27,LINC01363	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397,MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	111504372	111504372	C	T	intronic	ACOXL	unknown	SNV	-	-	-	3.241e-05	-	-	-	-	-	COSN25704716	-	EOPC-DE|1|202|0.00495	-	-	-	-	COSMIC,ICGC,
chr12	9845493	9845493	T	C	exonic	CLEC2D	nonsynonymous	SNV	0.0	0.995	-	-	-	-	-	-	-	COSM3667233	-	LICA-FR|1|252|0.00397	-	-	-	Diabetes, type 1, association with |Crohn's disease, association with	COSMIC,COSMIC,ICGC,
chr14	98043152	98043152	G	T	ncRNA_intronic	LOC101929241	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN14526492	-	PACA-AU|1|391|0.00256	-	-	-	-	COSMIC,COSMIC,ICGC,
chr4	3096743	3096743	G	A	intronic	HTT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype	Potential protein deficiency|Huntington disease|Chorea, non-progressive, early-onset.|Benign hereditary chorea.	ICGC,
chr6	57921766	57921766	C	T	intergenic	PRIM2,GUSBP4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Potential protein deficiency,-	ICGC,
chr8	140055914	140055914	G	T	intergenic	COL22A1,KCNK9	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15015308	-	ESAD-UK|1|301|0.00332	-	-	-,respiratory system phenotype	-,Birk Barel mental retardation dysmorphism syndrome	COSMIC,ICGC,
chr3	194516094	194516094	G	A	intergenic	LOC100507391,XXYLT1	unknown	SNV	-	-	-	0.0006	rs184277463	-	0.00119808	-	-	COSN21120359	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr2	163045631	163045631	T	C	exonic	FAP	nonsynonymous	SNV	0.0	0.996	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	normal phenotype	Loss of enzyme activity	ICGC,
chr4	131840673	131840673	G	T	intergenic	LOC101927282,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	ICGC,
chr4	74235983	74235983	C	A	intergenic	ANKRD17,ALB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	mortality/aging,mortality/aging	-,Dysalbuminaemic hyperthyroxinaemia, familial|Bisalbuminaemia|Analbuminaemia|Albumin variant	ICGC,
chr16	13835243	13835243	G	A	intergenic	SHISA9,ERCC4	unknown	SNV	-	-	-	0.0016	rs6498463	-	0.00159744	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Xeroderma pigmentosum (F)|Progeroid syndrome|Potential protein deficiency|Lung cancer, susceptibility to|Fanconi anaemia|Combined xeroderma pigmentosum, cockayne syndrome and fanconi anaemia|Cockayne syndrome|Breast cancer  |Breast and/or ovarian cancer|Bladder cancer, increased risk, association with	ICGC,
chr14	106329353	106329353	A	G	intergenic	ELK2AP,KIAA0125	unknown	SNV	-	-	-	0	-	-	-	-	-	COSN25172078	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	COSMIC,ICGC,
chr8	112689435	112689435	-	T	intergenic	KCNV1,CSMD3	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	behavior/neurological phenotype,-	-,Schizophrenia  |Colorectal cancer 	ICGC,
chr1	20356686	20356686	C	T	intergenic	PLA2G2A,PLA2G5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	tumorigenesis,immune system phenotype	Altered secretory phospholipase A2-IIA levels|Colorectal cancer,Benign fleck retina	ICGC,
chr21	40795261	40795261	C	T	exonic	LCA5L	nonsynonymous	SNV	0.005	1.0	-	-	-	-	-	-	-	COSM5546401	-	-	-	-	-	-	COSMIC,COSMIC,
chr4	86741917	86741917	T	-	intronic	ARHGAP24	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	Autism spectrum disorder|Focal segmental glomerulosclerosis 	ICGC,
chr4	174548643	174548643	C	T	intergenic	HAND2-AS1,FBXO8	unknown	SNV	-	-	-	0.0001	rs753661633	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-,-	-,-	ICGC,
chr6	37523245	37523245	C	T	upstream	MIR4462	unknown	SNV	-	-	-	0.0003	rs141336633	-	0.000599042	-	0.007	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr3	194842877	194842877	A	G	intronic	XXYLT1	unknown	SNV	-	-	0.3877	0.3900	rs58370605	0.4175	0.542931	-	0.384	COSM3847051	BRCA|1|982|0.00102	COCA-CN|5|321|0.01558,BRCA-US|1|955|0.00105	-	-	-	-	COSMIC,TCGA,ICGC,
chr5	142149813	142149813	A	T	upstream	ARHGAP26	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr3	95029494	95029494	C	A	intergenic	LINC00879,MTHFD2P1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr2	130429967	130429967	G	A	intergenic	LOC151121,LOC389033	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr18	39496370	39496370	G	T	intergenic	KC6,PIK3C3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,mortality/aging	-,Intellectual disability  |Bipolar disorder/schizophrenia association with|Anti-Ro & anti-Sm antibodies, in lupus, in African-Americans, association	ICGC,
chr10	67646482	67646482	G	A	intergenic	LOC101928913,CTNNA3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-,-	-,Tourette syndrome |Sinus venosus atrial septal defect|Neural tube defects|Cervical artery dissection|Autism spectrum disorder |Attention deficit hyperactivity disorder |Arrhythmogenic right ventricular cardiomyopathy|Alzheimer disease, increased risk, association with |Adenocarcinoma	ICGC,
chr9	10311879	10311879	A	G	intronic	PTPRD	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Restless legs syndrome, association with|Ewing sarcoma	ICGC,
chrX	145500252	145500252	C	T	intergenic	MIR891A,CXorf51A	unknown	SNV	-	-	-	0.0002	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	138658481	138658481	T	C	exonic	MATR3	nonsynonymous	SNV	0.002	0.995	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	Vocal chord & pharyngeal weakness with distal myopathy	ICGC,
chr3	35368553	35368553	-	A	ncRNA_intronic	LOC101928135	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr9	6366903	6366903	G	A	intergenic	TPD52L3,UHRF2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr5	112910029	112910029	C	T	intronic	YTHDC2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr6	57394957	57394957	C	T	intronic	PRIM2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-	Potential protein deficiency	ICGC,
chr7	119639906	119639906	A	T	intergenic	ANKRD7,KCND2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	-,Epilepsy, temporal lobe	ICGC,
chr13	94693632	94693642	TAATTGAGAGA	-	intronic	GPC6	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-	Omodysplasia|Pancreatic cancer 	ICGC,
chr13	66707827	66707827	G	A	intergenic	NONE,PCDH9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr4	111539631	111539631	C	T	exonic	PITX2	nonsynonymous	SNV	0.012	0.686	-	-	-	-	-	-	-	COSM4392228	PRAD|1|499|0.00200	PRAD-US|1|256|0.00391	-	-	mortality/aging	Ring dermoid of the cornea|Rieger syndrome|Peter anomaly|Omphalocele, association with |Omphalocele|Iris hypoplasia|Iridogoniodysgenesis syndrome|Craniofacial/acallosal CNS midline defects|Axenfeld-Rieger syndrome|Anterior segment dysgenesis	COSMIC,COSMIC,TCGA,ICGC,
chr13	113239993	113239993	G	C	intronic	TUBGCP3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-	-	ICGC,
chr1	197968015	197968015	G	A	intergenic	LHX9,NEK7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	reproductive system phenotype,mortality/aging	-,-	ICGC,
chr15	88371218	88371218	G	A	intergenic	LINC00052,NTRK3	unknown	SNV	-	-	-	3.228e-05	-	-	-	-	-	COSN7252710	-	PACA-AU|1|391|0.00256	-	-	-,mortality/aging	-,Panic disorder, association with|Obsessive-compulsive disorder, association with|Autism spectrum disorder	COSMIC,ICGC,
chr20	58879901	58879901	C	T	ncRNA_intronic	MIR646HG	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1878601	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr2	33538876	33538876	T	G	intronic	LTBP1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20870549	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging	Increased expression |Autism	COSMIC,ICGC,
chr3	153041034	153041034	C	T	intergenic	RAP2B,C3orf79	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr11	117643939	117643939	G	T	intronic	DSCAML1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23619835	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	-	COSMIC,ICGC,
chr2	177711340	177711340	T	G	intergenic	LOC102724224,HNRNPA3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr7	150921200	150921200	C	A	exonic	ABCF2	nonsynonymous	SNV	0.0	1.0	-	-	-	-	-	-	-	COSM4545027	-	-	-	-	-	-	COSMIC,COSMIC,
chr8	130369259	130369259	C	T	intergenic	LINC00977,GSDMC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr8	1294208	1294208	C	T	intergenic	LOC286083,DLGAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Autism spectrum disorder  	ICGC,
chr5	74427103	74427103	C	T	intronic	ANKRD31	unknown	SNV	-	-	-	0.0002	-	-	-	-	-	COSN9456936	-	OV-AU|1|93|0.01075	-	-	-	-	COSMIC,ICGC,
chr10	24784102	24784102	A	G	exonic	KIAA1217	nonsynonymous	SNV	0.988	0.001	-	-	-	-	-	-	-	COSM4013388	STAD|1|395|0.00253,STES|1|395|0.00253	STAD-US|1|289|0.00346	-	-	mortality/aging	Autism spectrum disorder	COSMIC,COSMIC,TCGA,ICGC,
chr4	86317136	86317136	G	A	intergenic	WDFY3-AS2,ARHGAP24	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,Autism spectrum disorder|Focal segmental glomerulosclerosis 	ICGC,
chr22	26423562	26423562	C	T	exonic	MYO18B	nonsynonymous	SNV	0.374	0.055	4.067e-06	3.23e-05	rs774768493	1.682e-05	-	-	-	COSM5454997	-	COCA-CN|1|321|0.00312,LUSC-KR|1|170|0.00588	-	-	mortality/aging	Colorectal cancer, increased risk, association with|Leukemia, risk, association with |Schizophrenia	COSMIC,ICGC,
chr9	7237238	7237238	C	T	intergenic	KDM4C,TMEM261	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Upper aerodigestive tract cancer, association with,-	ICGC,
chr2	195480426	195480426	-	TTGTAATTATA	intergenic	LOC101927406,LOC101927431	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr18	41702657	41702657	T	A	intergenic	SYT4,LOC101927921	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8251390	-	PACA-CA|1|268|0.00373	-	-	behavior/neurological phenotype,-	-,-	COSMIC,ICGC,
chr14	67332589	67332589	T	G	intronic	GPHN	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	mortality/aging	Seizures |Schizophrenia|Molybdenum cofactor deficiency|Hyperekplexia|Epilepsy with cognitive impairment / autism spectrum disorder|Autism spectrum disorder & seizures|Autism spectrum disorder	ICGC,
chr9	44094381	44094381	-	A	intergenic	CNTNAP3B,LOC101927827	unknown	insertion	-	-	-	3.24e-05	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-,-	-,-	ICGC,
chr19	35196580	35196580	C	T	intergenic	ZNF302,ZNF181	unknown	SNV	-	-	-	0	-	-	-	-	-	COSN19347210	-	-	-	-	-,-	-,-	COSMIC,
chr4	94142980	94142980	C	G	intronic	GRID2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	mortality/aging	Cerebellar ataxia & tonic upgaze|Cerebellar ataxia and atrophy|Schizophrenia|Spastic paraplegia, complicated	ICGC,
chr20	58456530	58456530	A	G	exonic	SYCP2	synonymous	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	reproductive system phenotype	-	ICGC,
chr7	85360964	85360964	C	T	intergenic	SEMA3D,GRM3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21382883	-	BRCA-EU|1|569|0.00176	-	-	-,behavior/neurological phenotype	Total anomalous pulmonary venous connection|Tetralogy of Fallot|Hirschsprung disease   ,Schizophrenia, association with|Major depressive disorder, association with	COSMIC,ICGC,
chr11	112653136	112653136	C	T	intergenic	LOC387810,LOC101928847	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	130564474	130564474	-	TATAA	intergenic	LOC151121,LOC389033	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr4	183224606	183224606	T	G	intergenic	MIR1305,TENM3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Microphthalmia  	ICGC,
chr1	224934221	224934221	C	T	intergenic	CNIH3,DNAH14	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7205922	-	PACA-AU|1|391|0.00256	-	-	-,-	-,Potential protein deficiency	COSMIC,ICGC,
chr18	36885161	36885162	GG	-	ncRNA_intronic	LINC00669	unknown	deletion	-	-	-	0.0003	rs140429980	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	-	ICGC,
chr20	15358535	15358535	G	A	intronic	MACROD2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Kabuki syndrome|Attention deficit hyperactivity disorder 	ICGC,
chr3	142643560	142643560	C	T	intergenic	PCOLCE2,LOC100507389	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16665141	-	PACA-CA|1|268|0.00373	-	-	immune system phenotype,-	Potential protein deficiency,-	COSMIC,ICGC,
chr5	24458061	24458061	C	T	intergenic	PRDM9,CDH10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|2|183|0.01093	-	-	reproductive system phenotype,-	Altered meiotic recombination hotspot usage|Azoospermia by meiotic arrest, association with |Azoospermia, non-obstructive ,-	ICGC,
chr16	78142118	78142118	C	T	intronic	WWOX	unknown	SNV	-	-	-	0.0021	rs139402263	-	0.00299521	-	0.007	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging	Reduced plasma HDL cholesterol, association with|Non-small-cell lung cancer |Microcephaly syndrome, early lethal|Lung cancer, increased risk, association with|Differentiated thyroid carcinoma, association with|Cerebellar ataxia with epilepsy & mental retardation|Cancer |46,XY disorder of sex development 	ICGC,
chr14	55740147	55740147	G	A	intronic	FBXO34	unknown	SNV	-	-	-	-	rs866760369	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr12	106963739	106963739	A	G	ncRNA_intronic	LOC100287944	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-	-	ICGC,
chr4	171175817	171175817	A	T	intergenic	AADAT,LOC100506122	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19092862	-	CLLE-ES|1|510|0.00196	-	-	vision/eye phenotype,-	-,-	COSMIC,ICGC,
chr1	150049229	150049229	C	T	exonic	VPS45	nonsynonymous	SNV	0.002	1.0	-	-	-	-	-	-	-	COSM3473328	SKCM|1|368|0.00272	SKCM-US|1|335|0.00299	-	-	-	Neutropaenia, neutrophil dysfunction, bone marrow fibrosis & nephromegaly|Neutropaenia, thrombasthenia & myelofibrosis of infancy	COSMIC,TCGA,ICGC,
chr14	28034209	28034209	-	A	intergenic	LOC101927081,LINC00645	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chrY	17622637	17622637	G	A	intergenic	NLGN4Y,FAM41AY1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Autism  ,-	ICGC,
chr16	81013725	81013725	G	C	intronic	CMC2	unknown	SNV	-	-	-	0.0017	rs181928660	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr6	44713627	44713627	G	T	intergenic	CDC5L,SUPT3H	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PEME-CA|1|112|0.00893	-	-	-,-	-,46,XY gonadal dysgenesis	ICGC,
chr16	63163402	63163402	T	C	intergenic	CDH8,CDH11	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,integument phenotype	Learning disability  |Autism & learning disability ,-	ICGC,
chr1	72592876	72592876	C	A	intronic	NEGR1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	behavior/neurological phenotype	Obesity, association with|Dyslexia |Body mass index, association with|Attention deficit hyperactivity disorder	ICGC,
chr12	91636547	91636547	C	T	intergenic	DCN,C12orf79	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype,-	Renal disease, slower progress in diabetes, association with|Congenital stromal dystrophy,-	ICGC,
chr13	107786833	107786833	C	T	intergenic	LINC00443,FAM155A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr5	115660175	115660175	A	G	intergenic	COMMD10,LOC101927190	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr14	43481105	43481105	G	A	intergenic	LRFN5,FSCB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Short stature|Developmental delay, seizures & learning problems ,Tourette syndrome 	ICGC,
chr16	65017815	65017815	C	T	intronic	CDH11	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN18915439	-	-	-	-	integument phenotype	-	COSMIC,
chr5	55941338	55941338	C	G	intergenic	LOC101928448,MAP3K1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,integument phenotype	-,Disorders of sex development|Potential protein deficiency	ICGC,
chr5	90941550	90941550	C	T	intergenic	ARRDC3-AS1,NR2F1-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	106487671	106487671	G	A	ncRNA_intronic	ARHGEF38-IT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr19	58474617	58474617	G	A	intronic	C19orf18	unknown	SNV	-	-	-	-	rs770852749	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr20	6996960	6996960	C	T	intergenic	BMP2,LINC01428	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	mortality/aging,-	Wolff-Parkinson-White syndrome|Wolff-Parkinson-White & Alagille syndrome|Thymoma and autoimmune disease |Reduced fat and increased muscle mass, association with|Orofacial cleft palate|Decreased mRNA stability|Colorectal cancer, increased risk, association with|Cleft palate  |Brachydactyly type A2|Bone mass, association with ,-	ICGC,
chr6	83131597	83131597	A	G	intergenic	TPBG,UBE3D	unknown	SNV	-	-	-	9.686e-05	rs757700739	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging,-	-,-	ICGC,
chr12	62567782	62567782	G	A	intronic	FAM19A2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr5	22274835	22274835	C	G	intronic	CDH12	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21740008	-	BRCA-EU|1|569|0.00176	-	-	-	Lung cancer, susceptibility to, association with	COSMIC,ICGC,
chr5	21798331	21798331	C	T	intronic	CDH12	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Lung cancer, susceptibility to, association with	ICGC,
chr20	54249200	54249200	C	T	intergenic	LINC01441,CBLN4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,normal phenotype	-,-	ICGC,
chr9	119693989	119693989	A	T	intronic	ASTN2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	Autism spectrum disorder |Intellectual disability  |Schizophrenia  	ICGC,
chr7	16128827	16128827	A	G	UTR3	ISPD	unknown	SNV	-	-	-	3.437e-05	rs772727710	0.0013	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	Walker-Warburg syndrome / muscle-eye-brain disease|Walker-Warburg syndrome|Muscular dystrophy, limb girdle with mental retardation|Muscular dystrophy, limb girdle with cerebellar involvement|Muscular dystrophy, limb girdle|Muscular dystrophy, congenital|Muscle-eye-brain disease|Cobblestone lissencephaly	ICGC,
chr3	162338189	162338189	A	T	intergenic	OTOL1,LINC01192	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr20	56160637	56160637	G	A	intergenic	PCK1,ZBP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	integument phenotype,immune system phenotype	Lipoprotein/Triglyceride levels, association with|Global cognition in alzheimer disease, association with|Diabetes Mellitus, type 2, association with|Brain atrophy in multiple sclerosis, association with,-	ICGC,
chr21	42748900	42748900	-	A	exonic	MX2	frameshift	insertion	-	-	-	-	-	-	-	-	-	COSM5741994	-	-	-	-	mortality/aging	-	COSMIC,
chr10	69087844	69087844	C	T	intronic	CTNNA3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	Tourette syndrome |Sinus venosus atrial septal defect|Neural tube defects|Cervical artery dissection|Autism spectrum disorder |Attention deficit hyperactivity disorder |Arrhythmogenic right ventricular cardiomyopathy|Alzheimer disease, increased risk, association with |Adenocarcinoma	ICGC,
chr5	55485843	55485843	A	T	intronic	ANKRD55	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-	Potential protein deficiency	ICGC,
chr19	40057015	40057015	G	A	intergenic	EID2,LGALS13	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Preterm labour, association with	ICGC,
chr21	28121329	28121329	C	T	intergenic	CYYR1,ADAMTS1	unknown	SNV	-	-	-	-	rs746472040	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Schizophrenia	ICGC,
chr12	4305883	4305883	T	C	intergenic	PARP11,CCND2	unknown	SNV	-	-	-	0.4398	rs12827476	-	0.332069	-	0.420	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,Diabetes, type 2, reduced risk|Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome	ICGC,
chr4	169351713	169351713	T	C	exonic	DDX60L	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM371925	-	-	-	-	-	-	COSMIC,
chr12	128636523	128636523	T	C	intergenic	LOC101927694,TMEM132C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-,-	-,-	ICGC,
chr6	104279821	104279821	T	C	intergenic	GRIK2,HACE1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	behavior/neurological phenotype,tumorigenesis	Mental retardation, non-syndromic, autosomal recessive,Wilms tumour 	ICGC,
chr10	95375984	95375984	C	T	intronic	PDE6C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	vision/eye phenotype	Cone-rod dystrophy|Cone dystrophy, early-onset|Autosomal recessive achromatopsia|Achromatopsia, autosomal recessive|Achromatopsia	ICGC,
chr13	91934114	91934114	T	A	intergenic	LINC00379,MIR17HG	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17403180	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,Feingold syndrome|Feingold syndrome 2|Post-axial polydactyly type A, overgrowth, facial dysmorphisms & autism	COSMIC,ICGC,
chrX	41057842	41057842	G	T	exonic	USP9X	nonsynonymous	SNV	0.056	1.0	-	-	-	-	-	-	-	-	LUAD|1|543|0.00184	-	-	-	integument phenotype	Dandy-Walker malformation with congenital anomalies|Intellectual disability  |Mental retardation	TCGA,
chr1	30391761	30391761	C	T	intergenic	LOC101928460,LOC101929406	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	190255193	190255193	A	C	intronic	BRINP3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr12	41326477	41326477	A	G	intronic	CNTN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Myopathy, lethal congenital|Pancreatic cancer 	ICGC,
chr14	82921082	82921082	C	T	intergenic	LOC101928559,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr8	112168128	112168128	T	C	intergenic	KCNV1,CSMD3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6905570	-	LIRI-JP|1|258|0.00388	-	-	behavior/neurological phenotype,-	-,Schizophrenia  |Colorectal cancer 	COSMIC,ICGC,
chr6	84025185	84025185	T	C	intronic	ME1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1337621	-	LINC-JP|1|394|0.00254	-	-	mortality/aging	-	COSMIC,COSMIC,ICGC,
chr18	504167	504167	C	T	intergenic	COLEC12,CETN1	unknown	SNV	-	-	-	3.233e-05	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-,-	-,-	ICGC,
chr20	18894064	18894064	G	A	intergenic	C20orf78,SLC24A3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr6	107125693	107125693	-	C	intergenic	QRSL1,LOC100422737	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN14729997	-	-	-	-	-,-	-,-	COSMIC,
chr9	44089501	44089501	G	A	intergenic	CNTNAP3B,LOC101927827	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr13	104881994	104881994	C	T	intergenic	MIR548AS,DAOA-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr15	75535862	75535862	G	T	intergenic	C15orf39,GOLGA6C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr19	31360271	31360271	C	T	intergenic	ZNF536,TSHZ3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25951356	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	Schizophrenia,-	COSMIC,ICGC,
chr15	29903908	29903908	G	A	intergenic	FAM189A1,TJP1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8814120	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr18	11280056	11280056	G	A	intergenic	PIEZO2,LINC01255	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Marden-Walker syndrome|Lung cancer, susceptibility to in never smokers, association with |Gordon syndrome / arthrogryposis, distal, type 5|Gordon syndrome|Arthrogryposis, distal, type 5,-	ICGC,
chr1	104125785	104125785	T	C	intergenic	AMY2B,AMY2A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr6	110160852	110160852	T	C	intergenic	FIG4,GPR6	unknown	SNV	-	-	-	0.4312	rs7750996	-	0.465056	-	0.406	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,behavior/neurological phenotype	Amyotrophic lateral sclerosis |Charcot-Marie-Tooth disease 4J|Epilepsy with polymicrogyria|Primary lateral sclerosis, adult, 1|Yunis-Varon syndrome,-	ICGC,
chrX	5712368	5712368	C	T	intergenic	LOC101928201,NLGN4X	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	-,Potential protein deficiency|Mental retardation|Kallmann syndrome and ichthyosis|Intellectual disability, short stature & hydrocephaly|Intellectual disability, Kallmann syndrome & ichthyosis|Intellectual disability, behavioural difficulties, ichthyosis & hypogonadotrophic hypogonadism|Intellectual disability, autism spectrum disorder & short stature|Developmental delay, hypospadias & ichthyosis|Developmental delay, autism spectrum disorder, micropenis & ichthyosis|Developmental delay  |Autism, association with|Autism and mental retardation|Autism 	ICGC,
chr15	20122557	20122557	G	A	intergenic	NONE,CHEK2P2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr10	23917881	23917881	C	T	intergenic	OTUD1,KIAA1217	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Autism spectrum disorder	ICGC,
chr11	91929635	91929635	C	A	intergenic	DISC1FP1,FAT3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16242231	-	PRAD-CA|1|308|0.00325	-	-	-,vision/eye phenotype	-,Autism spectrum disorder	COSMIC,ICGC,
chr20	3523135	3523135	T	-	intronic	ATRN	unknown	deletion	-	-	-	-	-	-	-	-	0.065	-	-	LMS-FR|1|67|0.01493	-	-	integument phenotype	Restless legs syndrome 	ICGC,
chr7	149444441	149444441	G	A	intergenic	KRBA1,ZNF467	unknown	SNV	-	-	-	0.0002	rs568698479	-	0.000399361	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-,-	-,-	ICGC,
chr12	52039117	52039117	G	A	intronic	SCN8A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	mortality/aging	Intellectual disability, nonsyndromic|Hyperinsulinism|Epileptic encephalopathy, multiple congenital anomalies and movement disorders|Epileptic encephalopathy, infantile|Epileptic encephalopathy |Ataxia	ICGC,
chr5	129929330	129929330	T	G	intergenic	CHSY3,HINT1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7874420	-	PACA-AU|1|391|0.00256	-	-	-,cellular phenotype	-,Axonal neuropathy with neuromyotonia	COSMIC,ICGC,
chr1	158889889	158889889	A	G	intergenic	MNDA,PYHIN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr21	18760114	18760114	A	-	intergenic	LINC00478,C21orf37	unknown	deletion	-	-	-	0	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr2	195154547	195154547	C	T	intergenic	PCGEM1,LOC101927406	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr8	115189170	115189170	C	T	intergenic	CSMD3,TRPS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	Schizophrenia  |Colorectal cancer ,Tricho-rhino-phalangeal syndrome with supernumerary teeth|Tricho-rhino-phalangeal syndrome III|Tricho-rhino-phalangeal syndrome I|Tricho-rhino-phalangeal syndrome|Infantile scoliosis & developmental delay|Femoral neck width, association with|Ambras syndrome	ICGC,
chr17	80668921	80668921	C	T	intergenic	RAB40B,FN3KRP	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Schizophrenia	ICGC,
chr13	33484116	33484116	C	A	ncRNA_intronic	LINC00423	unknown	SNV	-	-	-	9.699e-05	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-	-	ICGC,
chr11	61560244	61560244	C	T	UTR5	FEN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Lung cancer, increased risk, association with|Glioma, association with.|Gastrointestinal cancer, increased risk, association with|Breast cancer, increased risk	ICGC,
chr4	178085575	178085575	A	G	intergenic	VEGFC,NEIL3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,immune system phenotype	Lymphoedema, primary, Milroy-like,-	ICGC,
chr1	164906195	164906195	G	A	intergenic	PBX1,LMX1A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|2|183|0.01093	-	-	integument phenotype,integument phenotype	Schizophrenia,-	ICGC,
chr6	157478868	157478868	C	A	intronic	ARID1B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21762377	-	BRCA-EU|1|569|0.00176	-	-	-	Schizophrenia|Nicolaides-Baraitser syndrome|Intellectual disability, plantar fat pads & facial dysmorphism|Intellectual disability, corpus callosum abnormalities, speech impairment & autism|Intellectual disability & speech impairment|Intellectual disability & agenesis of corpus callossum|Intellectual disability  |Developmental delay, dysmorphic features, dysgenesis of the corpus callosum, limb anomalies & genital hypoplasia|Coffin-Siris syndrome|Autism?|Autism spectrum disorder|Autism	COSMIC,ICGC,
chr4	176331264	176331264	C	T	intergenic	ADAM29,GPM6A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,reproductive system phenotype	-,Claustrophobia, association with	ICGC,
chr1	71142156	71142156	C	T	intergenic	CTH,PTGER3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,integument phenotype	Hyperhomocysteinemia|Cystathioninuria|Cystathionine elevations |Altered homocysteine levels,-	ICGC,
chrX	55748838	55748838	T	G	intronic	RRAGB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	-	ICGC,
chr15	48656187	48656187	C	T	intergenic	DUT,FBN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Progeroid fibrillinopathy|Progeroid facial features & lipodystrophy|Potential protein deficiency|Phenotype modifier|Non-SGS marfanoid craniosynostosis|Mitral valve prolapse|Marfan syndrome, neonatal progeroid|Marfan syndrome, neonatal|Marfan syndrome, incomplete|Marfan syndrome with lipodystrophy|Scleroderma, protection against, association with |Shprintzen-Goldberg syndrome|Stiff skin syndrome|Weill-Marchesani syndrome with thoracic aortic disease|Weill-Marchesani syndrome|Thoracic aortic aneurysms and dissections.|Thoracic aortic aneurysms & dissections, association with |Thoracic aortic aneurysm or dissection|Thoracic aortic aneurysm and dissections|Thoracic aortic aneurysm  |Tall stature, association with|Tall stature and ectopia lentis|Stiff skin syndrome with ectopia lentis|Marfan syndrome with intracranial hypertension|Acromicric dysplasia|Ectopia lentis, isolated form|Ectopia lentis, isolated|Ectopia lentis and marfanoid habitus without cardiovascular dis|Ectopia lentis & aortic aneurysm / dissection|Ectopia lentis|Bilateral lens dislocation and glaucoma|Bicuspid aortic valve |Aortic dilation|Aortic aneurysm, thoracic|Aortic aneurysm|Essential hypertension, decreased risk|Fibrillinopathy|Marfan syndrome & schizophrenia|Marfan syndrome|Marfan syndrom with predominant ectopia lentis|Lens luxation and striae|Kyphoscoliosis|Idiopathic arthritis & mitral valve prolapse|Geleophysic dysplasia|Geleophysic / acromicric dysplasia|Furlong syndrome|Fibrillinopathy, type 1.|Fibrillinopathy, type 1	ICGC,
chr20	29622980	29622980	C	T	ncRNA_intronic	FRG1B	unknown	SNV	-	-	-	-	rs73619801	-	0.233427	-	-	COSN19615517	-	LAML-KR|1|205|0.00488	-	-	-	-	COSMIC,ICGC,
chr18	13848525	13848525	-	C	intergenic	MC5R,MC2R	unknown	insertion	-	-	-	0.0003	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	integument phenotype,mortality/aging	-,Glucocorticoid deficiency without pigmentation|Glucocorticoid deficiency |Cushing syndrome|Androgen secretion, association with|Adrenal hypoplasia, salt-losing|ACTH responsiveness, association with|ACTH hypersensitivity syndrome	ICGC,
chr2	14183783	14183783	C	T	intergenic	LOC100506474,LINC00276	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5483211	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr11	70354124	70354124	T	C	intronic	SHANK2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging	Autism|Autism spectrum disorder |Intellectual disability and language impairment|Mental retardation |Mental retardation, speech / developmental delay & facial features	ICGC,
chr9	87268658	87268658	C	G	intergenic	SLC28A3,NTRK2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,mortality/aging	Reduced sodium-binding capacity,Anxiety-related traits, association with|Obesity, hyperphagia, and developmental delay	ICGC,
chr22	26392441	26392441	C	A	intronic	MYO18B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Colorectal cancer, increased risk, association with|Leukemia, risk, association with |Schizophrenia	ICGC,
chr6	86994615	86994615	T	A	intergenic	SNHG5,HTR1E	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22338843	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr11	18066134	18066134	G	A	intergenic	TPH1,SAAL1	unknown	SNV	-	-	-	3.259e-05	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	integument phenotype,-	Schizophrenia, association with.|Schizophrenia, association with|Schizophrenia|Major depressive disorder, association with|Depression, association with|Borderline personality disorder, association with|Attention deficit hyperactivity disorder,-	ICGC,
chr1	231951717	231951717	T	C	ncRNA_exonic	DISC2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-JP|1|585|0.00171	-	-	-	-	ICGC,
chr13	69548834	69548834	G	A	intergenic	LINC00550,KLHL1	unknown	SNV	-	-	-	0.2608	rs952195	-	0.311701	-	0.210	-	-	ESAD-UK|1|301|0.00332	-	-	-,behavior/neurological phenotype	-,Breast cancer, increased risk  	ICGC,
chr5	171865159	171865159	C	T	intronic	SH3PXD2B	unknown	SNV	-	-	-	9.706e-05	rs373931375	-	-	-	-	COSN21601372	-	BRCA-EU|1|569|0.00176	-	-	integument phenotype	Glaucoma, primary open angle|Glaucoma, primary congenital|Frank-Ter Haar syndrome|Axenfeld-Rieger anomaly	COSMIC,ICGC,
chr7	48494668	48494668	C	T	exonic	ABCA13	synonymous	SNV	-	-	0	-	-	-	-	-	-	COSM1622928	-	LINC-JP|1|394|0.00254	-	-	-	Schizophrenia / depression|Schizophrenia / bipolar disorder / depression |Schizophrenia  |Bipolar disorder  |Autism|Anorectal malformation	COSMIC,COSMIC,ICGC,
chr5	162593593	162593593	T	C	intergenic	GABRG2,CCNG1	unknown	SNV	-	-	-	3.262e-05	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,mortality/aging	Seizures, generalized tonic-clonic|Myoclonic epilepsy of infancy |Generalized epilepsy with febrile seizures plus|Febrile seizures|Epilepsy, susceptibility to|Epilepsy, idiopathic generalised  |Epilepsy, childhood absence with febrile seizures|Dravet syndrome,-	ICGC,
chr17	48534787	48534787	G	A	intronic	ACSF2	unknown	SNV	-	-	-	0.2385	rs28590506	-	0.190096	-	0.109	-	-	LAML-KR|1|205|0.00488	-	-	-	-	ICGC,
chr7	132923116	132923116	A	G	intergenic	CHCHD3,EXOC4	unknown	SNV	-	-	-	0.0036	rs531486929	-	0.00119808	-	-	-	-	MALY-DE|1|241|0.00415	-	-	mortality/aging,mortality/aging	-,Meckel-Gruber syndrome|Cervical artery dissection|Autism spectrum disorder  	ICGC,
chr8	79263082	79263082	A	G	intergenic	PEX2,PKIA	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6364324	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging,normal phenotype	Zellweger syndrome|Refsum disease, infantile|Peroxisome biogenesis disorder|Cerebellar ataxia, autosomal recessive,-	COSMIC,ICGC,
chr5	161144663	161144663	G	A	intergenic	GABRA6,GABRA1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,mortality/aging	Idiopathic epilepsy, generalised ,Myoclonic epilepsy, juvenile|Epileptic encephalopathy  |Epilepsy, idiopathic generalised  |Epilepsy, idiopathic  |Dravet syndrome   |Childhood absence epilepsy|Altered promoter activity	ICGC,
chr14	42524938	42524938	G	A	intergenic	LRFN5,NONE	unknown	SNV	-	-	-	3.232e-05	-	-	-	-	-	COSN6249577	-	ESAD-UK|1|301|0.00332,LIRI-JP|1|258|0.00388	-	-	-,-	Short stature|Developmental delay, seizures & learning problems ,-	COSMIC,ICGC,
chr4	58150156	58150156	G	A	intergenic	IGFBP7-AS1,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr2	24402140	24402140	T	A	intronic	FAM228A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr14	93398247	93398248	TG	-	intronic	CHGA	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|2|100|0.02000	-	-	mortality/aging	Reduced diastolic blood pressure, association with|Increased plasma glucose levels|Increased glucose uptake inhibition|Increased functional potency|Hypertension, association with|Cardiometabolic risk traits, association with|Altered processing by plasmin	ICGC,
chr8	138185528	138185528	T	C	intergenic	KHDRBS3,FAM135B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	63292831	63292831	A	C	intergenic	HTR1A,RNF180	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	Tourette syndrome |Reduced expression|Personality disorders, association with.|Menstrual cycle-dependent fever|Major depression and suicide, association with|Major depression|Impulsive behaviour, association with|Epileptic seizures |Comorbid depression and generalized anxiety, association with|Attenuated agonist-mediated receptor down-regulation and desensitization,-	ICGC,
chrX	93761246	93761246	C	T	intergenic	FAM133A,LOC643486	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr5	26142558	26142558	A	G	intergenic	LOC340107,CDH9	unknown	SNV	-	-	-	-	rs374375562	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr8	114902314	114902314	C	T	intergenic	CSMD3,TRPS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,integument phenotype	Schizophrenia  |Colorectal cancer ,Tricho-rhino-phalangeal syndrome with supernumerary teeth|Tricho-rhino-phalangeal syndrome III|Tricho-rhino-phalangeal syndrome I|Tricho-rhino-phalangeal syndrome|Infantile scoliosis & developmental delay|Femoral neck width, association with|Ambras syndrome	ICGC,
chr16	25972610	25972610	G	A	intronic	HS3ST4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr20	52974485	52974485	T	C	intergenic	PFDN4,DOK5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23741647	-	ORCA-IN|1|178|0.00562	-	-	-,-	-,-	COSMIC,ICGC,
chr12	37876608	37876608	G	T	intergenic	NONE,ALG10B	unknown	SNV	-	-	-	0.0027	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,Acquired long QT syndrome, protection against, association|Acquired long QT syndrome	ICGC,
chr6	7442571	7442571	G	A	intergenic	RIOK1,DSP	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,integument phenotype	-,Epidermolysis bullosa, lethal acantholytic|Epidermolytic bullous dermatosis with cardiomyopathy|Naxos-Carvajal syndrome|Potential protein deficiency|Skin fragility and woolly hair|Skin fragility, alopecia and cardiomyopathy|Striate palmoplantar keratoderma|Woolly hair/ PPK/cardiomyopathy/mucocutaneous blistering|Ectodermal dysplasia/skin fragility syndrome|Dysplasia, arrhythmogenic right ventricular|Dilated cardiomyopathy, woolly hair, keratoderma|Arrhythmogenic right ventricular dysplasia/cardiomyopathy|Cardiomyopathy, arrhythmogenic left ventricular|Cardiomyopathy, arrhythmogenic right ventricular |Cardiomyopathy, arrhythmogenic, left-dominant|Cardiomyopathy, dilated|Carvajal syndrome|Carvajal/Naxos syndrome|Carvajal/Naxos syndrome with leukonychia and oligodontia	ICGC,
chr10	98001857	98001857	C	T	intronic	BLNK	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	mortality/aging	Schizophrenia  |Hypogammaglobulinaemia	ICGC,
chr10	12116846	12116846	C	T	intronic	DHTKD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Charcot-Marie-Tooth disease 2  |2-aminoadipic & 2-oxoadipic aciduria	ICGC,
chrX	79838169	79838169	T	C	intergenic	FAM46D,BRWD3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6732642	-	LIRI-JP|1|258|0.00388	-	-	-,craniofacial phenotype	-,Rolandic epilepsy |Potential protein deficiency|Mental retardation, X-linked|Intellectual disability & macrocephaly	COSMIC,ICGC,
chr7	96944395	96944395	G	T	intergenic	ACN9,TAC1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	Long QT syndrome, drug-induced, increased risk,-	ICGC,
chr11	48374901	48374901	G	T	upstream	OR4C45	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr9	111574610	111574610	-	GA	intergenic	KLF4,ACTL7B	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype,-	-,Schizophrenia	ICGC,
chr14	63092181	63092181	A	G	intergenic	LINC00644,KCNH5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,behavior/neurological phenotype	-,Epileptic encephalopathy 	ICGC,
chr8	21632597	21632597	G	C	intronic	GFRA2	unknown	SNV	-	-	-	-	rs201322759	-	-	-	0.058	COSN24403588	-	LICA-CN|2|402|0.00498	-	-	integument phenotype	-	COSMIC,COSMIC,ICGC,
chr10	90946045	90946045	C	T	intergenic	MIR4679-2,CH25H	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,immune system phenotype	-,-	ICGC,
chr7	143580774	143580774	T	A	intronic	FAM115A	unknown	SNV	-	-	-	-	rs28375589	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr6	22207573	22207573	C	A	intergenic	CASC15,PRL	unknown	SNV	-	-	-	0.1251	rs17263042	-	0.0822684	-	0.029	-	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	-,Rheumatoid arthritis susceptibility, association with|Schizophrenia, association with|Systemic lupus erythematosus, association with	ICGC,
chr1	16809555	16809555	G	A	ncRNA_intronic	CROCCP3	unknown	SNV	-	-	-	6.486e-05	-	-	-	-	-	-	-	BRCA-UK|1|141|0.00709	-	-	-	-	ICGC,
chr10	20721664	20721664	T	A	intergenic	PLXDC2,MIR4675	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15437104	-	OV-AU|1|93|0.01075	-	-	nervous system phenotype,-	Pancreatic cancer ,-	COSMIC,COSMIC,ICGC,
chr9	22954547	22954547	C	T	intergenic	LINC01239,LOC101929563	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chrX	78834912	78834912	G	T	intergenic	ITM2A,TBX22	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,mortality/aging	-,Cleft palate, non-syndromic|Cleft palate and ankyloglossia, association with|Cleft palate and ankyloglossia|Cleft palate|Cleft lip and palate|Ankyloglossia |Abruzzo-Erickson syndrome	ICGC,
chr10	58078252	58078252	C	T	intergenic	MTRNR2L5,ZWINT	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8713770	-	OV-AU|1|93|0.01075	-	-	-,-	-,-	COSMIC,ICGC,
chrX	122336607	122336607	G	C	exonic	GRIA3	nonsynonymous	SNV	-	-	-	-	rs868717443	-	-	-	-	COSM3746588	-	LINC-JP|1|394|0.00254	-	-	integument phenotype	Mental retardation, X-linked|Intellectual disability, X-linked with facial dysmorphism|Intellectual disability, X-linked|Autism spectrum disorder	COSMIC,ICGC,
chr7	94891251	94891251	C	T	intronic	PPP1R9A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	-	ICGC,
chr19	16882641	16882641	-	T	intronic	NWD1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	-	Potential protein deficiency	ICGC,
chr5	112953218	112953218	G	A	intergenic	YTHDC2,KCNN2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,-	ICGC,
chr11	68539690	68539690	G	A	intronic	CPT1A	unknown	SNV	-	-	-	6.464e-05	rs561194198	-	0.000199681	-	-	-	-	MALY-DE|1|241|0.00415	-	-	mortality/aging	Obesity related traits, association with|Impaired fasting tolerance|Carnitine palmitoyltransferase 1 deficiency|Advanced fibrosis, reduced risk, association with	ICGC,
chr6	113085235	113085235	T	G	intergenic	RFPL4B,MARCKS	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,mortality/aging	-,-	ICGC,
chr8	13658234	13658234	G	A	intergenic	C8orf48,SGCZ	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22559232	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,Cervical artery dissection	COSMIC,ICGC,
chr17	11229320	11229320	G	A	intronic	SHISA6	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1192928	-	LINC-JP|1|394|0.00254	-	-	-	-	COSMIC,ICGC,
chr20	37090433	37090433	G	A	intergenic	SNHG11,RALGAPB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,-	ICGC,
chr2	139948689	139948689	G	A	intergenic	YY1P2,LRP1B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15749309	-	MELA-AU|1|183|0.00546,LIRI-JP|1|258|0.00388	-	-	-,mortality/aging	-,Schizophrenia   	COSMIC,ICGC,
chr9	137326002	137326002	A	G	exonic	RXRA	nonsynonymous	SNV	0.0	1.0	-	-	-	-	-	-	-	COSM72513	OV|1|469|0.00213	LIHC-US|1|189|0.00529	-	-	integument phenotype	-	COSMIC,TCGA,ICGC,
chr7	50007119	50007119	G	A	intronic	ZPBP	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	reproductive system phenotype	Teratozoospermia 	ICGC,
chr8	37333015	37333015	G	A	ncRNA_intronic	LOC100507420	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr10	130499384	130499384	A	T	intergenic	LINC01163,MGMT	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19295087	-	CLLE-ES|1|510|0.00196	-	-	-,mortality/aging	-,MGMT methylation in malignant pleural mesothelioma, association with|Non-Hodgkin lymphoma, increased risk|Pancreatic cancer, increased risk, association with|Promoter methylation and longer survival in glioblastoma patients, association with|Promoter methylation in colorectal cancer |MGMT methylation in lung cancer, increased risk, association with|MGMT methylation in colorectal cancer, association with|Lung cancer, risk, association with|Glioblastoma, reduced risk, association with |Endometrial cancer risk, association with|Cervical carcinoma, increased risk, association with|Cancer, increased risk|Altered enzyme activity	COSMIC,ICGC,
chr22	35197858	35197858	T	C	intergenic	LARGE,ISX	unknown	SNV	-	-	-	0.0025	rs571684599	-	0.000399361	-	-	-	-	MALY-DE|1|241|0.00415	-	-	mortality/aging,no phenotypic analysis	Alpha-dystroglycanopathy |Autism, non-complex|Fukushima congenital muscular dystrophy|Muscular dystrophy, congenital 1D|Walker-Warburg syndrome|Walker-Warburg syndrome.,-	ICGC,
chr1	85323554	85323554	T	C	intronic	LPAR3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25877629	-	EOPC-DE|1|202|0.00495	-	-	reproductive system phenotype	Schizophrenia	COSMIC,ICGC,
chr1	90485303	90485303	T	G	intronic	ZNF326	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25347466	-	MALY-DE|1|241|0.00415	-	-	-	Schizophrenia	COSMIC,ICGC,
chr9	121498000	121498000	G	A	intergenic	TLR4,BRINP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Phenotypic variation in haemochromatosis, association with|Periodontitis, association with|Pancreatic necrotic infection, association with|Negative association with FMF|Nasopharyngeal cancer, increased risk, association with|Moraxella catarrhalis infection, increased risk, association with|Metabolic syndrome, association with|Meningococcal disease susceptibility|Meningococcal disease mortality|Lung function, association with|Lower left ventricular mass, in hypertensive women, association|Increased risk of cirrhosis in chronic hepatitis C ?|Increased liver and body fat, association with|Potential protein deficiency|Preterm birth and premature rupture of membranes, association with|Tuberculosis susceptibility, in HIV-infected patients, association|Serious infection, in HIV-1 patients, association with|Retinitis pigmentosa |Reduced LPS-induced IL-12 secretion, association with|Reduced expression|Pulmonary tuberculosis, susceptibility and severity, association|Pulmonary tuberculosis, severity, association with|Protection from urinary tract infection, association with|Protection against being overweight|Prostate cancer, increased risk|Prostate cancer risk, association with|Primary open-angle, normal-tension, and exfoliation glaucoma, association with.|Typhoid infection, increased risk, association with|Increased IL-4 secretion response to measles vaccination, association|Cutaneous leishmaniasis, association with|Crohn's disease, association with|Colorectal cancer, association with.|Colorectal cancer risk, association with|Cervical cancer, early stage, association with|Cancer, increased risk, association with|Bronchopulmonary Dysplasia, infant, association with|Breast cancer, association with.|Behcet disease, protection against, association with|Altered monocyte receptor levels|Acute pyelonephritis, reduced risk in adults, association with|Acute pyelonephritis, in children, association with|Diabetes, type 2, protection against, association with|Digestive system cancer, increased risk & prostate cancer, protection against, association with|Emphysema, association with|Increased expression|Helicobacter pylori-related gastric atrophy, association with|HBV recurrence after liver transplantation, association with|Guillain-Barré syndrome, association with|Guillain-Barré syndrome, AMAN sub-type, association with|Gastritis, association with|Gastric carcinoma, association with|Endometriosis, association with|Endotoxin hyporesponsiveness, association with|Extra-intestinal manifestations in Crohn's disease, association with.|Gastric adenocarcinoma, association with|Gastric cancer, association with,-	ICGC,
chr11	61440275	61440275	G	A	intergenic	RPLP0P2,DAGLA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,cellular phenotype	-,-	ICGC,
chrX	23678095	23678095	G	A	intergenic	PTCHD1,PRDX4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,reproductive system phenotype	Autism spectrum disorder|Intellectual disability|Intellectual disability, X-linked,Autism spectrum disorder	ICGC,
chr4	113348225	113348225	A	G	intronic	ALPK1	unknown	SNV	-	-	-	0.5512	rs6533618	-	0.588658	-	0.587	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr10	80744474	80744474	C	T	ncRNA_intronic	ZMIZ1-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8721779	-	OV-AU|1|93|0.01075	-	-	-	-	COSMIC,ICGC,
chr13	88440939	88440939	G	A	intergenic	SLITRK5,LINC00397	unknown	SNV	-	-	-	-	rs538610272	-	0.000798722	-	-	COSN16305788	-	LIRI-JP|1|258|0.00388	-	-	integument phenotype,-	-,-	COSMIC,ICGC,
chr10	67289951	67289951	C	T	intergenic	ANXA2P3,LOC101928913	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	127626776	127626776	C	T	intergenic	GYPC,BIN1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1223483	-	LINC-JP|1|394|0.00254	-	-	-,integument phenotype	Glycophorin C variant|Gerbich-negative blood group|Elliptocytosis|Duch blood group,Myopathy, centronuclear, autosomal recessive|Alzheimer disease, increased risk	COSMIC,ICGC,
chr7	13080486	13080486	A	T	intergenic	ARL4A,ETV1	unknown	SNV	-	-	-	0.0001	-	-	-	-	-	COSN23027614	-	PACA-CA|1|268|0.00373	-	-	reproductive system phenotype,mortality/aging	-,-	COSMIC,ICGC,
chr6	170513907	170513907	A	T	intergenic	LINC00574,LOC154449	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9502691	-	OV-AU|1|93|0.01075	-	-	-,-	-,-	COSMIC,ICGC,
chr1	188455008	188455008	G	A	intergenic	PLA2G4A,BRINP3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|2|183|0.01093	-	-	mortality/aging,-	Asthma, association with|Cryptogenic multifocal ulcerating stenosing enteritis|Increased enzyme activity|Prostanoid biosynthesis deficiency,-	ICGC,
chr13	67951172	67951172	T	G	intergenic	PCDH9,LINC00550	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15094247	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr8	33699211	33699211	G	A	intergenic	DUSP26,UNC5D	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr6	16510367	16510367	C	T	intronic	ATXN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging	Spinocerebellar ataxia 1|Schizophrenia, association with |Maculopathy with spinocerebellar ataxia type 1.|Intellectual disability & behavioural abnormalities|Azoospermia, association with|Amyotrophic lateral sclerosis	ICGC,
chr16	3577216	3577216	G	C	intronic	CLUAP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	mortality/aging	-	ICGC,
chr1	93256648	93256648	C	T	intronic	EVI5	unknown	SNV	-	-	-	0.0061	rs114320411	-	0.00139776	-	0.007	-	-	MELA-AU|1|183|0.00546	-	-	-	Neuroblastoma 	ICGC,
chr10	55169751	55169751	C	G	intergenic	MBL2,PCDH15	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16247534	-	PRAD-CA|1|308|0.00325	-	-	hematopoietic system phenotype,vision/eye phenotype	Leprosy, association with|Lung cancer survival, association with|Mannose-binding protein deficiency, association|Placental malaria, susceptibility to, association with|Systemic lupus erythematosus, association with|Tuberculosis, protection against, association with|Type 2 diabetes, association with|Ulcerative colitis, association with.|Vulvovaginal candidiasis, recurrent, association with|Lepromatous leprosy, protection against, association with|Kawasaki disease, association with|Antiphospholipid syndrome, association with|Bacterial infection, increased risk, association with|Colon cancer, association with|Crohn's disease, in children, association with|Dental caries, association with.|HIV-1 infection, increased susceptibility, association with|HIV-1 infection, susceptibility, association|Increased serum MBL level |Infection, in children, association with.,Usher syndrome II|Usher syndrome 1f|Usher syndrome 1|Lipid levels in hyperlipidaemia, association with|Hearing loss, non-syndromic|Deafness, non-syndromic, autosomal recessive|Deafness, non-syndromic |Deafness  	COSMIC,ICGC,
chr4	160981680	160981680	T	G	intergenic	RAPGEF2,FSTL5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	-,Schizophrenia  |Rolandic epilepsy 	ICGC,
chr4	16364178	16364178	C	T	intergenic	TAPT1-AS1,LDB2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,normal phenotype	-,-	ICGC,
chr9	40581167	40581167	T	C	intergenic	FAM74A1,SPATA31A3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	ICGC,
chrX	107405211	107405211	C	T	intronic	COL4A6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	normal phenotype	Premature ovarian failure |Nonsyndromic hearing loss, X-linked|Diffuse leiomyomatosis in Alport syndrome	ICGC,
chr4	114574306	114574306	T	C	intronic	CAMK2D	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	cardiovascular system phenotype	Hyperinsulism	ICGC,
chr7	31891217	31891217	C	T	intronic	PDE1C	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16050037	-	PACA-CA|1|268|0.00373	-	-	taste/olfaction phenotype	Developmental delay  	COSMIC,ICGC,
chr15	81709537	81709537	T	G	ncRNA_intronic	LOC101929655	unknown	SNV	-	-	-	0.3067	rs8028536	-	0.237819	-	0.348	-	-	ESAD-UK|2|301|0.00664	-	-	-	-	ICGC,
chr11	112234986	112234986	G	C	intergenic	PLET1,LOC101928823	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-,-	-,-	ICGC,
chr18	62111558	62111558	G	A	intergenic	LOC284294,CDH7	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20897662	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr7	9115119	9115119	G	A	intergenic	NXPH1,PER4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	mortality/aging,-	Breast cancer, increased risk  ,-	ICGC,
chr8	91207775	91207775	G	A	intergenic	CALB1,LINC00534	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,-	-,-	ICGC,
chr5	18439690	18439690	C	T	intergenic	LOC401177,CDH18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|2|100|0.02000	-	-	-,-	-,Anorectal malformation	ICGC,
chr16	71711119	71711119	C	T	intronic	PHLPP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	EOPC-DE|1|202|0.00495	-	-	-	Reduced phosphatase activity	ICGC,
chr13	78265085	78265085	G	A	intergenic	SCEL,SLAIN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	normal phenotype,no phenotypic analysis	-,-	ICGC,
chr1	161599693	161599693	T	C	exonic	FCGR3B	nonsynonymous	SNV	0.888	-	0.6176	0.9267	rs448740	0.5887	0.532947	-	0.536	COSM3997023	-	COCA-CN|2|321|0.00623,BRCA-KR|1|50|0.02000,EOPC-DE|1|202|0.00495,LAML-KR|2|205|0.00976,LICA-CN|1|402|0.00249,LUSC-KR|1|170|0.00588	not_specified	-	-	SLE and Sjogren's syndrome, association with|Systemic autoimmunity, association with|Systemic lupus erythematosus, association with|Systemic lupus erythematosus, increased risk, association with|Systemic sclerosis, association with.|SH alloantigen|Schizophrenia|Rheumatoid arthritis, association with.|Rheumatoid arthritis, association with|Primary Sjogren's syndrome, association with|Kawasaki disease, association with|Idiopathic pulmonary fibrosis, association with|Glomerulonephritis, association with	ClinVar,COSMIC,ICGC,
chr8	114049325	114049325	C	T	intronic	CSMD3	unknown	SNV	-	-	-	0.6494	rs7820383	-	0.775958	-	0.783	-	-	ESAD-UK|1|301|0.00332	-	-	-	Schizophrenia  |Colorectal cancer 	ICGC,
chr7	57781414	57781414	G	T	intergenic	ZNF716,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-UK|1|140|0.00714	-	-	-,-	-,-	ICGC,
chr2	181761243	181761243	A	G	ncRNA_intronic	SCHLAP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr7	142260614	142260614	T	C	intergenic	TRY2P,MTRNR2L6	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5649892	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr4	154944382	154944382	G	A	intergenic	SFRP2,DCHS2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	mortality/aging,-	-,Schizophrenia	ICGC,
chr4	111470515	111470515	G	A	exonic	ENPEP	nonsynonymous	SNV	0.588	0.0	-	-	-	-	-	-	-	COSM4121368	STAD|1|395|0.00253,STES|1|395|0.00253	STAD-US|1|289|0.00346	-	-	immune system phenotype	-	COSMIC,TCGA,ICGC,
chr1	70221248	70221248	-	AT	intergenic	DEPDC1-AS1,LRRC7	unknown	insertion	-	-	-	0	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,mortality/aging	-,-	ICGC,
chr10	69400412	69400412	G	A	intronic	CTNNA3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Tourette syndrome |Sinus venosus atrial septal defect|Neural tube defects|Cervical artery dissection|Autism spectrum disorder |Attention deficit hyperactivity disorder |Arrhythmogenic right ventricular cardiomyopathy|Alzheimer disease, increased risk, association with |Adenocarcinoma	ICGC,
chr6	83286806	83286806	G	A	intergenic	TPBG,UBE3D	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	-,-	ICGC,
chr3	144405558	144405558	G	T	intergenic	C3orf58,PLOD2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26218382	-	PRAD-UK|1|140|0.00714	-	-	-,-	-,Bruck syndrome	COSMIC,ICGC,
chr18	44549876	44549876	T	G	exonic	TCEB3C,TCEB3CL,TCEB3CL2	nonsynonymous	SNV	-	0.588	-	-	-	-	-	-	-	COSM3680728	-	-	-	-	-,-,-	-,-,-	COSMIC,
chr13	36337351	36337351	C	G	ncRNA_intronic	MIR548F5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7399596	-	PACA-AU|1|391|0.00256	-	-	-	-	COSMIC,ICGC,
chr6	102726728	102726728	C	G	intergenic	GRIK2,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5616166	-	LIRI-JP|1|258|0.00388	-	-	behavior/neurological phenotype,-	Mental retardation, non-syndromic, autosomal recessive,-	COSMIC,ICGC,
chr7	28183163	28183163	C	A	intronic	JAZF1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-	-	ICGC,
chr13	32960697	32960697	A	G	intronic	BRCA2	unknown	SNV	-	-	-	0.0146	rs186228399	-	0.0125799	-	0.007	-	-	-	Breast-ovarian_cancer,_familial_2	-	integument phenotype	Ovarian cancer.|Ovarian cancer |Ovarian / peritoneal carcinoma|Oesophageal squamous cell carcinoma|Oesophageal carcinoma  |Oesophageal cancer, association with|Ocular melanoma|Medulloblastoma |Male BC risk|Lung cancer  |Lunc cancer|Liver cancer|Ovarian carcinoma|Ovarian insufficiency, primary |Reactive lymphoid hyperplasia |Prostate cancer.|Prostate cancer, high-grade|Prostate cancer |Promyelocytic leukemia |Primordial dwarfism|Potential protein deficiency|Poorer survival in prostate cancer patients|Peritoneal carcinoma|Pancreatic cancer |Pancreatic adenocarcinoma|Triple-negative breast cancer|Leukemia risk |Breast cancer, association with|Breast cancer risk, association with|Breast cancer in radiographers, decreased risk|Breast cancer |Breast and/or ovarian cancer.|Breast and/or ovarian cancer |Breast and colorectal cancer|Autism|Altered transcription factor binding|Altered splicing  |Altered function|Breast cancer, early-onset|Breast cancer, early-onset.|Breast cancer, male|Intraperitoneal cancer|Fanconi anaemia D1|Fanconi anaemia|Fallopian tube carcinoma|Fallopian tube cancer|Ductal carcinoma in situ|Breast, gastric and lover cancer.|Breast cancer.|Breast cancer, triple-negative|Breast cancer, susceptibility to, association with|Breast cancer, sporadic, protection against	ClinVar,
chr7	89523178	89523178	T	G	ncRNA_intronic	STEAP2-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr5	45349654	45349654	A	-	intronic	HCN1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	integument phenotype	Idiopathic epilepsy, generalised 	ICGC,
chr1	183458551	183458551	C	T	intronic	SMG7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr3	123508128	123508128	G	A	intronic	MYLK	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Inflammatory lung disease, association with|Asthma, association with|Aortic dissections |Acute lung injury, in major trauma, association with	ICGC,
chr10	10693042	10693042	G	C	intergenic	LOC101928322,SFTA1P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chrX	33863113	33863113	G	A	intergenic	DMD,FAM47A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Muscular dystrophy, Duchenne & Charcot-Marie-Tooth disease|Muscular dystrophy, Duchenne & autism|Muscular dystrophy, Duchenne|Muscular dystrophy, Becker.|Muscular dystrophy, Becker with cognitive impairment|Muscular dystrophy, Becker|Muscular dystrophy, Duchenne-like|Muscular dystrophy, Duchenne, epilepsy, macroglossia and mental retardation|Muscular dystrophy, Duchenne.|Muscular dystrophy, Duchenne/Becker|Muscular dystrophy, intermediate|Myopathy  |Potential protein deficiency|Schizophrenia|Muscular dystrophy, atypical|Muscular dystrophy & intellectual disability|Muscular dystrophy|Autism & neuromotor delay|Autism spectrum disorder|Behavioural issues|Cardiomyopathy, dilated|Cardiomyopathy, dilated, X-linked|Cardiomyopathy, dilated.|Dystrophinopathy|Elevated creatine kinase level|Mild Becker muscular dystrophy|Mental retardation, X-linked|Isolated cardiomyopathy|Increased serum creatine kinase levels|Global developmental delay/intellectual disability|Exertional myalgia, muscle stiffness & myoglobinuria,-	ICGC,
chrX	24849539	24849539	A	T	intronic	POLA1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	normal phenotype	-	ICGC,
chr1	26263678	26263678	A	G	intergenic	STMN1,PAFAH2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	cardiovascular system phenotype,cellular phenotype	Lower cortisol in response to stress in females, assoc with,-	ICGC,
chr7	114057432	114057432	C	T	intronic	FOXP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Verbal dyspraxia, dysmorphism and developmental delay|Verbal apraxia & dysarthria|Verbal apraxia|Speech impairment, developmental delay & congenital anomalies|Speech disorder, global development & psychomotor delay|Mental retardation, dysmorphia and language delay|Left opercular polymicrogyria|Dyspraxia and language delay|Developmental verbal dyspraxia|Childhood apraxia of speech|Autism spectrum disorder 	ICGC,
chr19	30586565	30586565	G	A	intergenic	URI1,ZNF536	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,Schizophrenia	ICGC,
chr16	18292705	18292705	C	T	intergenic	XYLT1,NPIPA7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|3|183|0.01639	-	-	-,-	Decreased serum glycosaminoglycan levels, association with|Desbuquois dysplasia type 2|Diabetes, type 1, protection, association |Diabetic nephropathy protection |Increased serum XT1 activity in pseudoxanthoma elasticum, association|Short stature & intellectual disability,-	ICGC,
chr10	39126591	39126591	G	A	intergenic	ACTR3BP5,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr11	17665077	17665077	A	G	intronic	OTOG	unknown	SNV	-	-	7.129e-05	-	-	-	-	-	-	COSN26671141	-	LICA-CN|1|402|0.00249	-	-	reproductive system phenotype	Hearing impairment, nonsyndromic	COSMIC,ICGC,
chrX	139203605	139203605	T	C	intergenic	LOC389895,SOX3	unknown	SNV	-	-	-	-	rs866391294	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,mortality/aging	-,XX male sex reversal with growth retardation & microcephaly|XX male sex reversal with genital abnormalities|XX male sex reversal|Potential protein deficiency|Pituitary hormone deficiency, combined|Mental retardation with growth hormone deficiency|Hypopituitarism|Hypoparathyroidism|Hypertrichosis, congenital generalised |Hyperphagia & developmental delay	ICGC,
chr16	75283399	75283399	G	A	intronic	BCAR1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging	-	ICGC,
chr16	65636358	65636358	A	T	intergenic	LINC00922,CDH5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,integument phenotype	-,Autism|Haemorrhagic fever with renal syndrome, reduced severity, association with|Schizophrenia	ICGC,
chr11	98772698	98772698	A	T	intergenic	MIR7976,CNTN5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19601205	-	-	-	-	-,behavior/neurological phenotype	-,-	COSMIC,
chr4	177634414	177634414	C	T	intronic	VEGFC	unknown	SNV	-	-	-	0.0001	-	-	-	-	-	COSN5012015	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Lymphoedema, primary, Milroy-like	COSMIC,ICGC,
chr12	126004129	126004129	C	A	exonic	TMEM132B	nonsynonymous	SNV	0.042	0.986	-	-	-	-	-	-	-	COSM1322656	OV|1|469|0.00213	-	-	-	-	-	COSMIC,TCGA,
chr10	26414559	26414559	T	-	intronic	MYO3A	unknown	deletion	-	-	0	3.235e-05	rs770979293	8.37e-06	-	-	-	COSN26985685	-	PACA-AU|1|391|0.00256	-	-	hearing/vestibular/ear phenotype	Deafness|Hearing loss, non-syndromic	COSMIC,ICGC,
chr8	60407136	60407136	G	T	intergenic	TOX,CA8	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15503172	-	OV-AU|1|93|0.01075	-	-	hematopoietic system phenotype,behavior/neurological phenotype	Pulmonary tuberculosis, association  with,Ataxia, cerebellar hypoplasia|Cerebellar ataxia and quadrupedal locomotion|Cerebellar ataxia, mental retardation & dysequilibrium syndrome 3	COSMIC,COSMIC,ICGC,
chr1	195925849	195925849	C	T	intergenic	NONE,KCNT2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	109364497	109364497	C	T	intergenic	LOC100289673,TMEM232	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr9	1400522	1400522	G	T	intergenic	DMRT2,SMARCA2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20689607	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging,integument phenotype	-,Short stature|Schizophrenia, association with   |Nicholaides-Baraitser syndrome|Multiple congenital anomalies  |Lung cancer, association with|Intellectual disabilty, short stature and dysmorphisms|Hepatocellular carcinoma, in smokers, association with.|Hepatocellular carcinoma, association with.|Developmental delay & dysmorphic features|Developmental delay & autistic features|Developmental delay  |Coffin-Siris syndrome	COSMIC,ICGC,
chr2	130983962	130983962	G	A	intergenic	TUBA3E,CCDC115	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chrX	71594417	71594417	G	A	intronic	HDAC8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging	Cornelia de Lange syndrome|Cornelia de Lange syndrome-like features, ocular hypertelorism & large fontanelle|X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism & craniofacial deformities	ICGC,
chr5	18422115	18422115	G	A	intergenic	LOC401177,CDH18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,Anorectal malformation	ICGC,
chr13	25916842	25916842	T	C	downstream	NUPL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr1	189528909	189528909	G	A	intergenic	NONE,BRINP3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr8	110822142	110822142	G	T	intergenic	SYBU,KCNV1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,behavior/neurological phenotype	-,-	ICGC,
chr5	5995504	5995504	G	A	intergenic	ICE1,FLJ33360	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20223023	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	COSMIC,ICGC,
chr4	121396146	121396146	G	A	intergenic	MAD2L1,PRDM5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	mortality/aging,skeleton phenotype	Lung cancer, association with|Reduced expression,Brittle cornea syndrome	ICGC,
chr8	4859484	4859484	G	A	intergenic	CSMD1,LOC100287015	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Schizophrenia, association with |Hyperinsulinism|Autism|Attention deficit hyperactivity disorder ,-	ICGC,
chr8	119039114	119039115	AG	-	intronic	EXT1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Osteochondroma|Multiple osteochondromas.|Multiple osteochondromas|Multiple exostoses.|Multiple exostoses, mental retardation, hypertrichosis & brain abnormalities|Multiple exostoses 1|Multiple exostoses|Langer-Giedion-like syndrome with prominent toe pads|Langer-Giedion syndrome|Increased promoter activity|Chondrosarcoma|	ICGC,
chr6	124723178	124723178	C	T	intronic	NKAIN2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-	Developmental delay and recurrent infection|Various neurological abnormalities	ICGC,
chr5	2486159	2486159	G	T	intergenic	LOC100506858,IRX2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7931162	-	PACA-AU|1|391|0.00256	-	-	-,normal phenotype	-,-	COSMIC,ICGC,
chr4	127055920	127055920	G	A	intergenic	MIR2054,INTU	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,Anorectal malformation	ICGC,
chr19	36109889	36109889	C	A	exonic	HAUS5	nonsynonymous	SNV	0.268	0.827	-	-	-	-	-	-	-	COSM6424822	-	THCA-CN|1|50|0.02000	-	-	-	-	COSMIC,ICGC,
chr2	17728726	17728726	G	T	intronic	VSNL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-	-	ICGC,
chr15	86448531	86448531	A	C	intergenic	KLHL25,LOC101929701	unknown	SNV	-	-	-	0.4885	rs7181846	-	0.511581	-	0.478	-	-	LAML-KR|2|205|0.00976	-	-	-,-	-,-	ICGC,
chr12	4016592	4016592	G	A	intergenic	PARP11,CCND2	unknown	SNV	-	-	-	3.234e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Diabetes, type 2, reduced risk|Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome	ICGC,
chr10	130807364	130807364	C	T	intergenic	LINC01163,MGMT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,MGMT methylation in malignant pleural mesothelioma, association with|Non-Hodgkin lymphoma, increased risk|Pancreatic cancer, increased risk, association with|Promoter methylation and longer survival in glioblastoma patients, association with|Promoter methylation in colorectal cancer |MGMT methylation in lung cancer, increased risk, association with|MGMT methylation in colorectal cancer, association with|Lung cancer, risk, association with|Glioblastoma, reduced risk, association with |Endometrial cancer risk, association with|Cervical carcinoma, increased risk, association with|Cancer, increased risk|Altered enzyme activity	ICGC,
chr22	26724747	26724747	G	A	intronic	SEZ6L	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25714904	-	EOPC-DE|1|202|0.00495	-	-	behavior/neurological phenotype	-	COSMIC,ICGC,
chr10	97491842	97491842	A	G	intronic	ENTPD1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27959039	-	PRAD-CA|1|308|0.00325	-	-	hematopoietic system phenotype	Spastic paraplegia 64|Intellectual disability  	COSMIC,ICGC,
chr1	95040490	95040490	G	A	intergenic	F3,LINC01057	unknown	SNV	-	-	-	3.232e-05	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	integument phenotype,-	Altered gene expression|Asthma, adult-onset, association with|Cardiovascular death, association with|Diabetes|Venous thrombosis, increased risk, association,-	ICGC,
chr1	243650063	243650063	G	A	intronic	SDCCAG8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	mortality/aging	Senior-Loken syndrome|Retinal-renal ciliopathy|Nephronophthisis-related ciliopathy|Bardet-Biedl syndrome	ICGC,
chr4	131762288	131762288	T	C	intergenic	LOC101927282,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr2	172251035	172251035	C	T	intronic	METTL8	unknown	SNV	-	-	-	3.231e-05	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-	Potential protein deficiency	ICGC,
chr22	27263840	27263843	AGTT	-	intergenic	MIATNB,LINC01422	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|2|67|0.02985	-	-	-,-	-,-	ICGC,
chr8	48116995	48116995	A	T	intergenic	LOC100287846,SPIDR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr6	3328028	3328028	A	T	intronic	SLC22A23	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr8	73649620	73649620	T	G	ncRNA_intronic	LOC101926908	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr10	129854420	129854420	G	A	exonic	PTPRE	nonsynonymous	SNV	0.018	0.084	-	-	-	-	-	-	-	-	SKCM|1|368|0.00272	-	-	-	hematopoietic system phenotype	-	TCGA,
chr8	34188984	34188984	T	C	intergenic	DUSP26,UNC5D	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr17	12921588	12921588	CC	TT	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr19	12776319	12776319	C	T	exonic	MAN2B1	nonsynonymous	SNV	0.002	0.994	4.062e-06	-	rs754036398	-	-	-	-	-	GBMLGG|1|820|0.00122,LGG|1|530|0.00189	-	-	-	hematopoietic system phenotype	Mannosidosis, alpha	TCGA,
chr2	37409808	37409808	A	C	intronic	SULT6B1	unknown	SNV	-	-	-	0.0223	rs146128075	-	0.0135783	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr10	109843163	109843163	G	A	intergenic	SORCS1,RNU6-53P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	other phenotype,-	Autism ,-	ICGC,
chrX	137610812	137610812	C	A	intergenic	ZIC3,LINC00889	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22261941	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging,-	Situs abnormality|Heterotaxy|Congenital heart disease |Cardiac malformation,-	COSMIC,ICGC,
chrX	142519646	142519646	G	T	intergenic	SPANXN4,SPANXN3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24318501	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	COSMIC,ICGC,
chr2	28167296	28167296	C	G	intronic	BRE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	other phenotype	-	ICGC,
chr20	47641659	47641659	C	T	intronic	ARFGEF2	unknown	SNV	-	-	-	0.0002	rs370852073	-	-	-	-	COSN8611073	-	LUSC-KR|1|170|0.00588	-	-	mortality/aging	Choreadystonic movement disorder and periventricular heterotopia|Periventricular heterotopia with microcephaly|West syndrome, microcephaly, periventricular heterotopia, small corpus callosum & psychomotor retardation	COSMIC,ICGC,
chr13	48452768	48452768	G	A	intergenic	HTR2A,SUCLA2	unknown	SNV	-	-	-	-	rs536950023	-	0.00219649	-	-	COSN44620	-	-	-	-	skeleton phenotype,-	Bipolar I disorder, association with|Consolidation of episodic memory, association|Diminished hippocampal novelty processing, association with|Reduced sensitivity to clozapine, association with|Schizophrenia|Schizophrenia, association with|Suicidal behavior, association with|Systemic sclerosis, association with|Autism, association with|Attention deficit hyperactivity disorder, association with.|Affinity for and potency of atypical antipsychotic drugs, association|Age of onset, in temporal lobe epilepsy, association with.|Alcohol dependence and addiction, association with|Altered affinity for atypical antipsychotic drugs|Altered mRNA expression|Altered potency of atypical antipsychotic drugs|Altered splicing  |Anorexia nervosa, association with,Autism|Encephalomyopathic mitochondrial DNA depletion & methylmalonic aciduria|Encephalomyopathy & mitochondrial DNA depletion|Muscle hypotonia, dystonia, failure to thrive, sensorineural deafness, and dysmorphism|Schizophrenia  	COSMIC,
chr5	84026605	84026605	G	T	intergenic	EDIL3,NBPF22P	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1320111	-	LINC-JP|1|394|0.00254	-	-	immune system phenotype,-	Schizophrenia  ,-	COSMIC,ICGC,
chr5	133248508	133248508	A	C	intergenic	FSTL4,C5orf15	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	normal phenotype,-	Saccular intracranial aneurysm, association with|Tetralogy of Fallot,-	ICGC,
chr16	65207300	65207300	A	T	ncRNA_intronic	LOC101927650	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chrX	5814796	5814796	T	A	intronic	NLGN4X	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	Potential protein deficiency|Mental retardation|Kallmann syndrome and ichthyosis|Intellectual disability, short stature & hydrocephaly|Intellectual disability, Kallmann syndrome & ichthyosis|Intellectual disability, behavioural difficulties, ichthyosis & hypogonadotrophic hypogonadism|Intellectual disability, autism spectrum disorder & short stature|Developmental delay, hypospadias & ichthyosis|Developmental delay, autism spectrum disorder, micropenis & ichthyosis|Developmental delay  |Autism, association with|Autism and mental retardation|Autism 	ICGC,
chr4	168237655	168237655	C	T	intergenic	SPOCK3,ANXA10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr6	72365050	72365050	G	A	intergenic	LOC102724000,RIMS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,Autism|Cone-rod dystrophy|Retinitis pigmentosa, autosomal dominant	ICGC,
chr3	96531718	96531718	C	T	intergenic	MIR8060,EPHA6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,behavior/neurological phenotype	-,Alzheimer disease  	ICGC,
chr1	65925755	65925755	A	T	intronic	LEPR	unknown	SNV	-	-	-	0.0196	-	-	-	-	-	COSN24561133	-	GACA-CN|1|123|0.00813	-	-	integument phenotype	Obesity, childhood onset |Obesity, association with.|Obesity, association with|Obesity-related traits, association with|Obesity|Non-small cell lung cancer, association ith|Obesity, early onset|Obesity, early-onset|Obesity, morbid|Obstructive sleep apnea, association with|Oral cancer, association with|Plasma leptin levels + BMI in obesity, association with|Polycystic ovary syndrome, association with|Reduced serum insulin in obese subjects|Weight loss due to dieting in overweight women, association|Neural tube defects, association with|Metabolic syndrome, association with|Menarche, earlier onset, association with|Altered carbohydrate metabolism|Atherosclerosis, early onset, association with|Breast cancer, association with|Breast cancer, association with.|Bronchitis, chronic, association with.|Churg-Strauss syndrome, association with|Entamoeba histolytica, susceptibility, association with|Higher body mass index, association with|Higher leptin levels and preeclampsia, association with|Increased birth weight, association with|Increased proinflammatory state and stress condition in obesity, association with|Insulin, HOMA, and leptin levels in males, association with|Leptin changes after high monounsaturated fat diet, association withrated|Leptin levels and insulin resistance in patients with NAFLD, assocition with|Lower postprandial lipaemic response in males, association with	COSMIC,ICGC,
chr8	128145644	128145644	G	A	intergenic	PRNCR1,LINC01245	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr22	17741655	17741655	A	C	ncRNA_intronic	CECR3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN10027899	-	RECA-EU|1|422|0.00237	-	-	-	-	COSMIC,ICGC,
chr13	83554381	83554381	G	A	intergenic	NONE,SLITRK1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Trichotillomania|Tourette syndrome|Obsessive-compulsive disorder |Attention deficit hyperactivity disorder 	ICGC,
chr9	10231020	10231020	C	G	intronic	PTPRD	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22686037	-	BRCA-EU|1|569|0.00176	-	-	integument phenotype	Restless legs syndrome, association with|Ewing sarcoma	COSMIC,ICGC,
chr5	58351879	58351879	A	C	intronic	PDE4D	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Psychomotor retardation, coarse facies & ocular anomalies|Intellectual disability syndrome with low body mass index & facial features|Acrodysostosis	ICGC,
chr7	54322923	54322923	G	A	intergenic	HPVC1,LINC01445	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr10	42956696	42956696	G	A	ncRNA_intronic	CCNYL2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16601516	-	PACA-CA|1|268|0.00373	-	-	-	-	COSMIC,ICGC,
chr19	31200699	31200699	T	-	intergenic	ZNF536,TSHZ3	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|2|301|0.00664,LIRI-JP|1|258|0.00388	-	-	-,integument phenotype	Schizophrenia,-	ICGC,
chr16	64691228	64691228	T	G	intergenic	NONE,CDH11	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17305929	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	-,-	COSMIC,ICGC,
chr3	192352795	192352795	C	T	intronic	FGF12	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	behavior/neurological phenotype	-	ICGC,
chr1	57363981	57363981	G	A	intronic	C8A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Complement C8 alpha-gamma deficiency|Dense deposit disease |Haemolytic uraemic syndrome, atypical	ICGC,
chrX	77760895	77760895	A	G	intergenic	CYSLTR1,ZCCHC5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	respiratory system phenotype,-	Asthma, association with|Atopy, association with|Decreased expression,-	ICGC,
chr11	42072497	42072497	T	G	intergenic	LOC102723644,LOC100507205	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|2|301|0.00664	-	-	-,-	-,-	ICGC,
chr10	79516562	79516562	A	C	intergenic	KCNMA1,DLG5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging,behavior/neurological phenotype	Hypertension, association with |Generalized epilepsy and paroxysmal dyskinesia|Autism,Crohn's disease, protection against in females, association with |Inflammatory bowel disease, risk, association with	ICGC,
chr18	70734660	70734660	C	T	intergenic	NETO1,LOC400655	unknown	SNV	-	-	-	-	rs201475507	-	0.000199681	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,-	-,-	ICGC,
chr18	8239718	8239718	A	C	intronic	PTPRM	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	cardiovascular system phenotype	Potential protein deficiency	ICGC,
chrX	139627047	139627047	G	A	intergenic	SOX3,LINC00632	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6490451	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging,-	XX male sex reversal with growth retardation & microcephaly|XX male sex reversal with genital abnormalities|XX male sex reversal|Potential protein deficiency|Pituitary hormone deficiency, combined|Mental retardation with growth hormone deficiency|Hypopituitarism|Hypoparathyroidism|Hypertrichosis, congenital generalised |Hyperphagia & developmental delay,-	COSMIC,ICGC,
chr11	39996494	39996494	C	T	intergenic	LOC101928536,LRRC4C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	60565583	60565583	C	A	intergenic	CTC-436P18.1,ZSWIM6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr7	61556566	61556566	G	T	intergenic	NONE,ZNF733P	unknown	SNV	-	-	-	-	rs532385516	-	0.000199681	-	-	-	-	PRAD-UK|1|140|0.00714	-	-	-,-	-,-	ICGC,
chr6	161167387	161167387	T	A	intronic	PLG	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	integument phenotype	Plasminogen deficiency, severe type I|Plasminogen deficiency|Invasive aspergillosis, susceptibility|Haemolytic uraemic syndrome, atypical.|Haemolytic uraemic syndrome, atypical	ICGC,
chrX	79951409	79951409	A	T	exonic	BRWD3	nonsynonymous	SNV	0.293	0.004	-	-	-	-	-	-	-	COSM6188017	LUAD|1|543|0.00184	-	-	-	craniofacial phenotype	Rolandic epilepsy |Potential protein deficiency|Mental retardation, X-linked|Intellectual disability & macrocephaly	COSMIC,TCGA,
chr17	21208289	21208289	G	A	intronic	MAP2K3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Autism spectrum disorder  |Potential protein deficiency	ICGC,
chr6	87594506	87594506	C	T	intergenic	SNHG5,HTR1E	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr19	33230383	33230383	C	T	intronic	TDRD12	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	-	-	ICGC,
chr19	15086668	15086668	G	A	intronic	SLC1A6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	nervous system phenotype	-	ICGC,
chr18	63379572	63379572	T	C	intergenic	LOC284294,CDH7	unknown	SNV	-	-	-	3.234e-05	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr8	87524044	87524044	T	A	intergenic	RMDN1,CPNE3	unknown	SNV	-	-	-	8.049e-05	rs199585361	-	-	-	-	COSN18878130	-	-	-	-	-,-	-,-	COSMIC,
chr8	10761807	10761807	A	G	intronic	XKR6	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17469147	-	SKCA-BR|1|100|0.01000	-	-	-	Schizophrenia	COSMIC,ICGC,
chr8	14103263	14103263	A	C	intronic	SGCZ	unknown	SNV	-	-	-	6.457e-05	rs538089552	-	0.000199681	-	-	COSN20176054	-	PACA-CA|1|268|0.00373	-	-	-	Cervical artery dissection	COSMIC,ICGC,
chr3	17270977	17270977	T	C	intronic	TBC1D5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22294861	-	BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr9	115888112	115888112	C	T	intergenic	FAM225A,SLC31A2	unknown	SNV	-	-	-	0.0448	rs10981635	-	0.127995	-	0.051	-	-	LAML-KR|2|205|0.00976	-	-	-,-	-,-	ICGC,
chr7	147226136	147226136	G	A	ncRNA_intronic	MIR548I4	unknown	SNV	-	-	-	6.459e-05	rs543699549	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr4	15746437	15746437	C	T	intergenic	BST1,CD38	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype,immune system phenotype	Colorectal cancer, increased risk, association with,Discoid rash in SLE, association with|Diabetes mellitus 2, association with|B-cell chronic lymphocytic leukaemia susceptibility, association with|Autism and asthma	ICGC,
chr11	62795985	62795985	C	T	intergenic	SLC22A8,SLC22A24	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	homeostasis/metabolism phenotype,-	-,Potential protein deficiency	ICGC,
chr3	144049843	144049843	G	A	intergenic	C3orf58,PLOD2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,Bruck syndrome	ICGC,
chr21	18418440	18418440	-	AT	intergenic	LINC00478,C21orf37	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr12	96484572	96484572	C	T	intergenic	LTA4H,ELK3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	immune system phenotype,mortality/aging	-,-	ICGC,
chr18	525264	525264	A	G	intergenic	COLEC12,CETN1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16304621	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr11	114469848	114469848	T	G	intergenic	NXPE4,NXPE2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15261630	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr12	72464917	72464917	C	T	intergenic	TPH2,TRHDE-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Unipolar major depression, association with|Tryptophan hydroxylase 2 deficiency|Suicide, association with |Reduced promoter activity|Increased mRNA expression |Increased amygdala activity|Bipolar affective disorder, association with|Attention-deficit/hyperactivity disorder, association with.|Attention deficit hyperactivity disorder|Alternative splicing|Altered gene expression,-	ICGC,
chr16	7168144	7168144	A	T	intronic	RBFOX1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8392545	-	MALY-DE|1|241|0.00415	-	-	mortality/aging	Muscular and feet abnormalities|Mental retardation|Epilepsy, rolandic  |Epilepsy|Developmental delay, facial dysmorphism  |Developmental delay and transposition of the great arteries|Developmental delay and diplegia|Developmental delay and craniosynostosis|Developmental delay  |Cardiac defects|Cardiac abnormalities, micrognathia and scoliosis|Autism spectrum disorder|Autism|Attention deficit hyperactivity disorder 	COSMIC,ICGC,
chr6	3621811	3621811	C	T	intergenic	SLC22A23,PXDC1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	66008152	66008152	T	G	intergenic	LOC401134,EPHA5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|2|301|0.00664	-	-	-,nervous system phenotype	-,Mental retardation|Dravet syndrome  |Attention deficit hyperactivity disorder & learning disabilities|Alzheimer disease  	ICGC,
chr4	67621125	67621125	C	A	intergenic	EPHA5-AS1,LOC101927237	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25039458	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	COSMIC,ICGC,
chr13	59741795	59741795	G	A	intergenic	LOC101926897,DIAPH3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Autism  |Auditory neuropathy spectrum disorder|Auditory neuropathy	ICGC,
chr3	29867825	29867825	T	-	intronic	RBMS3	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-	-	ICGC,
chr14	107216930	107216930	C	T	intergenic	LINC00221,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr8	30120350	30120350	T	A	intergenic	MIR548O2,RBPMS-AS1	unknown	SNV	-	-	-	0.0119	rs866686913	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr6	85586242	85586242	C	T	intergenic	TBX18,NT5E	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype,hematopoietic system phenotype	Autism,Arterial & joint calcifications, symptomatic	ICGC,
chr6	14563149	14563149	A	G	intergenic	LINC01108,JARID2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,mortality/aging	-,Cognitive impairment, gait disturbance & characteristic facial appearance|Cognitive impairment, gait disturbance, characteristic facial appearance, intellectual disability & behavioural abnormalities|Schizophrenia	ICGC,
chr5	88100484	88100484	G	T	exonic	MEF2C	nonsynonymous	SNV	0.0	0.647	-	-	-	-	-	-	-	COSM6303375	-	LICA-CN|1|402|0.00249	-	-	mortality/aging	Pulmonary atresia with ventricular septal defect|Mental retardation, seizures & hypotonia|Mental retardation, autism spectrum disorder & epilepsy|Mental retardation|MEF2C haploinsufficiency syndrome|Intellectual disability & early-onset epileptic encephalopathy|Infantile spasms, microcephaly, and agenesis of the corpus callosum|Developmental delay with macrocephaly|Cognitive impairment & microcephaly|Autism	COSMIC,COSMIC,COSMIC,COSMIC,ICGC,
chr8	72146217	72146217	G	A	intronic	EYA1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Oto-facio-cervical syndrome|Peters' anomaly with cataracts|Renal hypodysplasia|Renal malformation|Ureteropelvic junction obstruction and reduced renal function|Iris anomaly|Hearing loss?|Deafness  |Cayler's cardiofacial syndrome|Cataract, autosomal dominant|Branchio-oto-renal syndrome|Branchio-oto-renal / branchiootic syndrome|Branchio-otic syndrome	ICGC,
chr4	109417621	109417621	C	A	intergenic	LEF1-AS1,RPL34-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BOCA-UK|1|130|0.00769	-	-	-,-	-,-	ICGC,
chr17	56471650	56471650	T	G	intronic	RNF43	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BOCA-UK|1|130|0.00769	-	-	cellular phenotype	Multiple sessile serrated adenoma	ICGC,
chr1	49135799	49135799	A	C	intronic	AGBL4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	RECA-EU|1|422|0.00237	-	-	-	Autism spectrum disorder, association with	ICGC,
chr7	97220049	97220049	C	T	intergenic	ACN9,TAC1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	Long QT syndrome, drug-induced, increased risk,-	ICGC,
chrX	115209932	115209932	T	C	intergenic	PLS3,AGTR2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,integument phenotype	Osteoporosis, X-linked with fractures,Reduced mRNA splicing efficiency|Preeclampsia, association with|Potential protein deficiency|Mental retardation, X-linked|Mental retardation, pervasive developmental disorder, and epilepsy |Left ventricular hypertrophy, association with|Increased glomerular filtration rate, in males|Higher left ventricle mass index in HCM, association	ICGC,
chr8	75372968	75372968	G	C	intergenic	GDAP1,MIR5681A	unknown	SNV	-	-	-	0.0008	rs148933697	-	0.000998403	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	Charcot-Marie-Tooth disease, autosomal recessive|Charcot-Marie-Tooth disease, axonal |Demyelinating peripheral neuropathy|Hereditary motor & sensory neuropathy|Neuropathy, early onset|Peripheral neuropathy  |Charcot-Marie-Tooth disease, autosomal dominant|Charcot-Marie-Tooth disease 4A, early onset axonal|Charcot-Marie-Tooth disease 4A|Charcot-Marie-Tooth disease  |Charcot-Marie-Tooth disease 1|Charcot-Marie-Tooth disease 2  |Charcot-Marie-Tooth disease 2C|Charcot-Marie-Tooth disease 2K|Charcot-Marie-Tooth disease 2K, axonal,-	ICGC,
chr5	46237892	46237892	C	T	intergenic	HCN1,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype,-	Idiopathic epilepsy, generalised ,-	ICGC,
chr9	125551739	125551739	G	A	exonic	OR5C1	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM3654083	SKCM|1|368|0.00272	SKCM-US|1|335|0.00299	-	-	-	-	COSMIC,TCGA,ICGC,
chr4	42580397	42580397	G	A	exonic	ATP8A1	synonymous	SNV	-	-	8.218e-06	-	rs756332026	8.247e-06	-	-	-	COSM1429764	COAD|1|367|0.00272,COADREAD|1|489|0.00204	COAD-US|1|254|0.00394	-	-	hematopoietic system phenotype	-	COSMIC,COSMIC,TCGA,ICGC,
chr3	140315631	140315631	G	A	intergenic	CLSTN2,TRIM42	unknown	SNV	-	-	-	6.459e-05	-	-	-	-	-	-	-	UTCA-FR|1|20|0.05000	-	-	-,-	Improved memory performance, association with,-	ICGC,
chr1	145629617	145629617	-	T	intronic	NBPF10,NBPF20,RNF115	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|3|71|0.04225	-	-	-,-,-	-,-,-	ICGC,
chr2	165251881	165251881	A	C	intergenic	FIGN,GRB14	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,hematopoietic system phenotype	-,-	ICGC,
chrX	56327674	56327674	T	-	intergenic	KLF8,UBQLN2	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	embryogenesis phenotype,-	Intellectual disability, absent speech & behavioural problems|Mental retardation, non-syndromic |Potential protein deficiency,Amyotrophic lateral sclerosis|Frontotemporal dementia|Frontotemporal dementia/Amyotrophic lateral sclerosis.|Frontotemporal lobar degeneration	ICGC,
chr3	140288853	140288853	C	G	intergenic	CLSTN2,TRIM42	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	Improved memory performance, association with,-	ICGC,
chr22	43837217	43837217	C	T	intronic	MPPED1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr9	31269369	31269369	C	T	intergenic	LINC01242,ACO1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,Schizophrenia	ICGC,
chr9	139163650	139163650	T	C	intergenic	QSOX2,DKFZP434A062	unknown	SNV	-	-	-	0.1106	rs62579932	-	0.0980431	-	0.181	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr10	105923453	105923453	C	T	intronic	WDR96	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr21	24946592	24946592	A	T	intergenic	D21S2088E,LOC101927869	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN10024086	-	RECA-EU|1|422|0.00237	-	-	-,-	-,-	COSMIC,ICGC,
chr7	78907874	78907874	G	T	intronic	MAGI2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Seizures|Schizophrenia|Myoclonic epilepsy |Infantile spasms in Williams-Beuren syndrome|Infantile spasms|Developmental delay & microcephaly|Developmental delay  |Developmental and/or speech and/or behavioural problems	ICGC,
chr3	17190680	17190680	G	A	intergenic	PLCL2,TBC1D5	unknown	SNV	-	-	-	-	rs573190582	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype,-	-,-	ICGC,
chr5	159011339	159011339	G	C	intergenic	LOC285627,LOC101927766	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26306861	-	PRAD-UK|1|140|0.00714	-	-	-,-	-,-	COSMIC,ICGC,
chr2	52884610	52884610	A	C	intergenic	NRXN1,ASB3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	Hypotonia|Hypotonia & encephalopathy|Increased white matter volume, association with|Intellectual disability  |Intellectual disability & attention deficit hyperactivity disorder|Intellectual disability & hearing loss|Intellectual disability & pervasive developmental disorder|Intellectual disability and autism|Intellectual disability, nonsyndromic |Intellectual disability, seizures, dysmorphisms & language delay|Growth retardation  |Epilepsy, myoclonic seizures & speech delay|Developmental disorder|Developmental disorder & attention deficit hyperactivity disorder|Developmental disorder, seizures & attention deficit hyperactivity disorder|Developmental/intellectual disability, hypotonia & dysmorphic features|Disorder of muscle, ligament & fascia|Encephalopathy  |Epilepsy  |Epilepsy with cognitive impairment / autism spectrum disorder|Epilepsy with focal seizures|Epilepsy, generalised |Intellectual disability, seizures, language delay & hypotonia|Language delay|Learning difficulties|Respiratory distress & sepsis|Respiratory distress syndrome|Schizophrenia |Schizophrenia, childhood onset |Schizophrenia, disorganised type|Seizures, generalized tonic-clonic & attention deficit hyperactivity disorder|Sensory integration disorder & attention deficit hyperactivity disorder|Speech delay & social communication difficulties|Tourette syndrome|Pervasive developmental disorder / hypotonia|Pervasive developmental disorder|Pervasive developmental delay / mental retardation, lack of coordination & hearing loss|Learning difficulties, ADHD & autism|Mental retardation|Mental retardation, autism, vertebral malformations|Mental retardation, Pitt-Hopkins-like|Microcephaly & mental retardation|Multiple congenital anomalies  |Multiple disabilities|Myoclonic epilepsy   |Neurodevelopmental disorder  |Vertebral anomalies|Developmental delay, speech delay & social communication difficulties|Attention deficit hyperactivity disorder |Autism spectrum disorder, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability & language delay|Autism spectrum disorder, intellectual disability, dysmorphisms, developmental delay & language delay|Autism spectrum disorder, intellectual disability, seizures & developmental delay|Autism spectrum disorder, intellectual disability, seizures, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability, seizures, dysmorphisms & language delay|Autism spectrum disorder, seizures, developmental delay & language delay|Autism, intellectual disability & attention deficit hyperactivity disorder|Autistic disorder|Autism spectrum disorder with developmental & speech delay|Autism spectrum disorder & seizures|Autism spectrum disorder & language delay|Autism |Autism & learning difficulties|Autism & mental retardation|Autism & seizures|Autism spectrum disorder|Autism spectrum disorder & attention deficit hyperactivity disorder|Autism spectrum disorder & developmental delay|Autism spectrum disorder & dysmorphic features|Autism spectrum disorder & intellectual disability|Behavioural problems|Congenital heart defect  |Craniofacial dysmorphism|Developmental delay & speech/motor delay|Developmental delay with early-onset epilepsy|Developmental delay, dysmorphic features & short stature|Developmental delay, epilepsy, autism|Developmental delay, language delay & hypotonia|Developmental delay, learning difficulties, ADHD|Developmental delay, microcephaly & behavioural problems|Developmental delay, pulmonic stenosis & autism spectrum disorder|Developmental delay, short stature and diaphragmatic hernia|Developmental delay, speech delay & microcephaly|Developmental delay & seizures|Developmental delay & seizure disorder|Cystic hygroma, hydrops & micrognathia|Cystic hygroma, shortened upper limbs & fetal demise|Developmental & speech delay|Developmental delay|Developmental delay / autism|Developmental delay & autism|Developmental delay & dysmorphic features|Developmental delay & epilepsy|Developmental delay & hypotonia|Developmental delay & multiple congenital anomalies,-	ICGC,
chr10	42617997	42617997	T	C	intergenic	NONE,LOC441666	unknown	SNV	-	-	-	-	rs9731175	-	-	-	-	COSN20471016	-	COCA-CN|1|321|0.00312	-	-	-,-	-,-	COSMIC,ICGC,
chr5	29600492	29600492	A	G	intergenic	LOC101929681,CDH6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,renal/urinary system phenotype	-,-	ICGC,
chr4	663031	663031	G	A	intronic	PDE6B	unknown	SNV	-	-	-	0.0019	rs75566204	-	-	-	-	COSN15266461	-	PRAD-CA|1|308|0.00325	-	-	integument phenotype	Leber congenital amaurosis|Nightblindness, stationary|Retinitis pigmentosa|Retinitis pigmentosa, autosomal recessive	COSMIC,COSMIC,ICGC,
chr10	94928161	94928161	-	A	intergenic	CYP26A1,MYOF	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|4|71|0.05634	-	-	mortality/aging,cardiovascular system phenotype	Altered enzyme activity|Reduced mRNA splicing efficiency,Schizophrenia|Autism	ICGC,
chrX	105086909	105086909	A	G	intronic	NRK	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging	-	ICGC,
chr12	117979179	117979179	C	A	intronic	KSR2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	growth/size phenotype	Obesity and insulin resistance	ICGC,
chr18	5639134	5639134	A	T	intergenic	EPB41L3,LOC645355	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9841227	-	RECA-EU|1|422|0.00237	-	-	mortality/aging,-	Potential protein deficiency,-	COSMIC,ICGC,
chr18	4873295	4873295	G	A	intergenic	DLGAP1,C18orf42	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	Schizophrenia  ,-	ICGC,
chr8	4322346	4322346	G	A	intronic	CSMD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Schizophrenia, association with |Hyperinsulinism|Autism|Attention deficit hyperactivity disorder 	ICGC,
chr17	15828709	15828709	T	C	intergenic	LOC101928567,ADORA2B	unknown	SNV	-	-	-	0.1613	rs4791653	-	0.139377	-	0.130	COSN6652735	-	-	-	-	-,mortality/aging	-,-	COSMIC,
chr6	51100052	51100052	C	T	intergenic	TFAP2B,PKHD1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20272012	-	PACA-CA|1|268|0.00373	-	-	integument phenotype,mortality/aging	Patent ductus arteriosus|Nonsyndromic patent ductus arteriosus|Neonatal temperament, association with|Increased expression, association with|Female alcoholism, severe, association with|Endocardial cushion defect|Diabetes, type 2, asssociation with|Char syndrome|Cardiac defects,Renal cystic disease and hepatic fibrosis.|Protection against colorectal cancer|Polycystic kidney disease |Caroli disease	COSMIC,ICGC,
chr9	113830986	113830986	C	T	intergenic	LPAR1,MIR7702	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,-	Knee osteoarthritis, susceptibility to, association|Increased peripheral blood monocyte counts, association with,-	ICGC,
chr19	29190552	29190552	G	A	ncRNA_intronic	LOC100420587	unknown	SNV	-	-	-	6.486e-05	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-	-	ICGC,
chr9	28657615	28657615	A	G	intronic	LINGO2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23092174	-	MALY-DE|1|241|0.00415	-	-	-	Autism spectrum disorder  |Developmental delay with absent speech	COSMIC,ICGC,
chr21	10791783	10791783	C	G	intergenic	TEKT4P2,TPTE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-,-	-,Potential protein deficiency	ICGC,
chr2	5197534	5197534	T	G	intergenic	LINC01249,LINC01248	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	ICGC,
chr19	57842151	57842151	T	-	downstream	ZNF543	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	Potential protein deficiency	ICGC,
chr9	28804140	28804140	C	T	intronic	LINGO2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	Autism spectrum disorder  |Developmental delay with absent speech	ICGC,
chr10	57242038	57242038	C	T	intergenic	PCDH15,MTRNR2L5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	vision/eye phenotype,-	Usher syndrome II|Usher syndrome 1f|Usher syndrome 1|Lipid levels in hyperlipidaemia, association with|Hearing loss, non-syndromic|Deafness, non-syndromic, autosomal recessive|Deafness, non-syndromic |Deafness  ,-	ICGC,
chr18	1444840	1444840	G	A	intergenic	LINC00470,METTL4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr14	96366216	96366216	C	T	ncRNA_intronic	TUNAR	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7034673	-	PACA-AU|1|391|0.00256	-	-	-	-	COSMIC,COSMIC,ICGC,
chr4	82572795	82572795	C	T	intergenic	RASGEF1B,HNRNPD	unknown	SNV	-	-	-	3.228e-05	rs565751896	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,immune system phenotype	Mental retardation, in chromosome 4q21 deletion syndrome,-	ICGC,
chr2	35703386	35703386	A	G	intergenic	MYADML,LOC100288911	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CN|1|65|0.01538	-	-	-,-	-,-	ICGC,
chr13	44726114	44726114	G	A	ncRNA_intronic	SMIM2-AS1,SMIM2-IT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	ICGC,
chr10	33343550	33343550	C	A	intergenic	ITGB1,NRP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,mortality/aging	-,-	ICGC,
chr9	24603860	24603860	C	T	intergenic	IZUMO3,TUSC1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	4812859	4812859	C	A	intergenic	STX18-AS1,MSX1	unknown	SNV	-	-	-	0.2328	rs1873843	-	0.239617	-	0.174	-	-	ESAD-UK|1|301|0.00332,LAML-KR|2|205|0.00976	-	-	-,integument phenotype	-,Tooth agenesis|Tooth agenesis and orofacial clefting|Tooth agenesis with cleft lip|Upper lateral incisor agenesis, association with|Witkop syndrome|Witkop syndrome.|Oligodontia in Wolf-Hirschhorn syndrome|Oligodontia|Hypodontia|Breast cancer, association with|Cleft lip and palate|Cleft lip and palate with tooth agenesis, association with|Cleft lip with or without cleft palate, association |Cleft lip with or without cleft palate, nonsyndromic|Cleft lip, incomplete 	ICGC,
chr2	76909002	76909002	A	T	intergenic	GCFC2,LRRTM4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr7	93649064	93649064	T	C	intergenic	BET1,COL1A2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,integument phenotype	-,Osteogenesis imperfecta Ib|Osteogenesis imperfecta II|Osteogenesis imperfecta II.|Osteogenesis imperfecta II/III|Osteogenesis imperfecta III|Osteogenesis imperfecta III/IV|Osteogenesis imperfecta IV|Osteogenesis imperfecta IV.|Osteogenesis imperfecta/Ehlers-Danlos syndrome|Osteoporosis|Osteoporosis, juvenile|Tooth agenesis|Osteogenesis imperfecta I/IV|Osteogenesis imperfecta I|Osteogenesis imperfecta|Bone mineral density, association with|Ehlers-Danlos syndrome |Ehlers-Danlos syndrome VII|Ehlers-Danlos syndrome VII, with cardiac valve disease.|Ehlers-Danlos syndrome, hypermobile|Ehlers-Danlos syndrome/Osteogenesis imperfecta|Hepatocellular carcinoma, increased risk, association with|Increased transcription|Intracranial aneurysm, susceptibility, association with|Lower BMD / increased stroke risk|Marfan syndrome |Minor connective tissue anomaly 	ICGC,
chr12	89396549	89396549	A	G	intergenic	KITLG,LOC728084	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Progressive hyperpigmentation|Progressive hyper- and hypopigmentation|Cancer, susceptibility to,-	ICGC,
chr9	73713342	73713342	C	T	intronic	TRPM3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Schizophrenia  |Mental retardation	ICGC,
chr7	49790439	49790439	C	T	intergenic	CDC14C,VWC2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr20	13368217	13368217	G	A	intergenic	ISM1,TASP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,-	ICGC,
chr11	133565473	133565473	G	T	intergenic	OPCML,LOC646522	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	no phenotypic analysis,-	Autism spectrum disorder  ,-	ICGC,
chr5	51464692	51464692	T	C	intergenic	ISL1,PELO	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15135263	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,mortality/aging	Cardiomyopathy, dilated|Diabetes, type 2|Intellectual and developmental disabilities,-	COSMIC,ICGC,
chr10	57183228	57183228	T	C	intergenic	PCDH15,MTRNR2L5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	vision/eye phenotype,-	Usher syndrome II|Usher syndrome 1f|Usher syndrome 1|Lipid levels in hyperlipidaemia, association with|Hearing loss, non-syndromic|Deafness, non-syndromic, autosomal recessive|Deafness, non-syndromic |Deafness  ,-	ICGC,
chr10	62217030	62217030	C	A	intronic	ANK3	unknown	SNV	-	-	-	3.23e-05	-	-	-	-	-	COSN1496150	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging	Potential protein deficiency|Intellectual disability, ADHD-like syndrome & behavioural problems|Autism spectrum disorder|Autism|Attention deficit hyperactivity disorder, autism & sleeping problems	COSMIC,ICGC,
chr6	61890879	61890879	C	T	intergenic	NONE,MTRNR2L9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,-	-,-	ICGC,
chr2	229890308	229890308	C	T	UTR3	PID1	unknown	SNV	-	-	6.588e-05	9.681e-05	rs202145888	6.168e-05	0.000199681	-	0.007	-	-	GACA-JP|1|585|0.00171	-	-	-	Anorectal malformation	ICGC,
chr3	155778924	155778924	C	T	intergenic	GMPS,KCNAB1	unknown	SNV	-	-	-	3.229e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,-	ICGC,
chr2	123379063	123379063	G	C	intergenic	TSN,CNTNAP5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	hematopoietic system phenotype,-	-,Autism	ICGC,
chr1	91564988	91564988	A	-	intergenic	ZNF644,HFM1	unknown	deletion	-	-	-	0.0001	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312,BTCA-SG|2|71|0.02817,MALY-DE|1|241|0.00415	-	-	-,-	High myopia |Myopia,Primary ovarian insufficiency	ICGC,
chr5	61351470	61351470	C	T	intergenic	LOC100506526,KIF2A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,mortality/aging	-,Malformation of cortical development	ICGC,
chr9	85093405	85093405	T	A	intergenic	SPATA31D1,RASEF	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	6420720	6420720	G	A	intergenic	MIR4790,LOC101927347	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	116767947	116767947	A	G	intergenic	DPP10,DDX18	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9074042	-	OV-AU|1|93|0.01075	-	-	-,-	Autism spectrum disorder,-	COSMIC,COSMIC,ICGC,
chr1	152382768	152382768	G	C	exonic	CRNN	nonsynonymous	SNV	0.003	0.893	-	-	-	-	-	-	-	-	SARC|1|247|0.00405	-	-	-	-	-	TCGA,
chr17	11694037	11694037	T	G	intronic	DNAH9	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22057746	-	BRCA-EU|1|569|0.00176	-	-	-	Autism|Colorectal cancer, increased risk, association with|Schizophrenia  	COSMIC,ICGC,
chr10	59762100	59762100	C	T	intergenic	MIR3924,IPMK	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,mortality/aging	-,-	ICGC,
chr3	89157581	89157581	C	A	intronic	EPHA3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	mortality/aging	Oligozoospermia|Schizophrenia    |Sertoli-cell-only syndrome	ICGC,
chr3	115841741	115841741	A	C	intronic	LSAMP	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	behavior/neurological phenotype	-	ICGC,
chr14	55836453	55836453	G	T	exonic	ATG14	nonsynonymous	SNV	0.048	0.131	-	-	-	-	-	-	-	COSM6317278	-	LICA-CN|1|402|0.00249	-	-	-	-	COSMIC,ICGC,
chr9	100683704	100683704	-	T	intronic	C9orf156	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN18759394	-	BTCA-SG|1|71|0.01408	-	-	-	-	COSMIC,ICGC,
chr7	145839666	145839666	A	G	intronic	CNTNAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5650664	-	LIRI-JP|1|258|0.00388	-	-	integument phenotype	Gilles de la Tourette syndrome|Intellectual disability  |Learning disability & speech problems|Mental retardation |Mental retardation, Pitt-Hopkins-like|Multiple congenital anomalies  |Seizures, neonatal |Speech delay  |Stuttering |Epileptic encephalopathy  |Epilepsy and schizophrenia|Autism|Autism spectrum disorder |Autism spectrum disorder, modifier of|Childhood apraxia of speech|Cortical dysplasia-focal epilepsy syndrome|Developmental and/or speech and/or behavioural problems|Developmental delay  |Developmental delay & dysmorphic features|Dyslexia 	COSMIC,ICGC,
chr8	40426611	40426611	G	A	intronic	ZMAT4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chrY	59003917	59003917	C	G	intergenic	NONE,SPRY3	unknown	SNV	-	-	-	-	rs80269191	-	-	-	-	COSN17981942	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,Altered meiotic recombination hotspot usage	COSMIC,ICGC,
chr1	193587531	193587531	C	T	intergenic	CDC73,NONE	unknown	SNV	-	-	-	0.4781	rs1578122	-	0.560503	-	0.587	COSN6434761	-	-	-	-	integument phenotype,-	Potential protein deficiency|Parathyroid carcinoma/adenoma|Parathyroid carcinoma.|Parathyroid carcinoma|Parathyroid cancer|Parathyroid adenoma.|Parathyroid adenoma |Hyperparathyroidism, primary.|Hyperparathyroidism, primary|Hyperparathyroidism, isolated|Hyperparathyroidism-jaw tumour syndrome.|Hyperparathyroidism-jaw tumour syndrome,-	COSMIC,
chr13	103569688	103569691	CTTC	-	intergenic	METTL21EP,SLC10A2	unknown	deletion	-	-	-	-	-	-	-	-	0.007	-	-	LMS-FR|6|67|0.08955	-	-	-,digestive/alimentary phenotype	-,Bile acid malabsorption, primary|Colorectal adenoma, increased risk, association with|Hypertriglyceridaemia |Impaired taurocholate transport|Potential protein deficiency	ICGC,
chr1	103117078	103117078	G	A	intergenic	OLFM3,COL11A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|3|183|0.01639	-	-	-,mortality/aging	-,Stickler syndrome, type 2|Stickler syndrome|Robin sequence |Osteoarthritis, early-onset|Marshall syndrome|Marshall / Stickler syndrome|Lumbar disc herniation, association with|Fibrochondrogenesis|Deafness  	ICGC,
chr10	46999205	46999205	C	T	exonic	GPRIN2	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM4439642	-	-	-	-	-	-	COSMIC,
chr4	131334182	131334182	T	C	intergenic	LOC101927282,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr1	213796287	213796287	G	A	intergenic	RPS6KC1,LINC00538	unknown	SNV	-	-	-	6.46e-05	rs189869948	-	0.000199681	-	-	COSN15043034	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr12	107309009	107309009	A	C	intergenic	RIC8B,TMEM263	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr18	66619673	66619673	A	T	intronic	CCDC102B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21576381	-	BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr6	66927973	66927976	AAAC	-	intergenic	SLC25A51P1,NONE	unknown	deletion	-	-	-	0.5840	rs149299090	-	0.619209	-	0.507	-	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	ICGC,
chr4	55854493	55854493	G	A	intergenic	KIT,KDR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,integument phenotype	Mastocytosis with haematologic disorder|Mastocytosis, diffuse cutaneous|Mastocytosis, diffuse cutaneous.|Piebaldism|Piebaldism and auburn hair|Piebaldism with cafe-au-lait macules & intertriginous freckling|Mastocytosis predisposition|Mastocytosis|Gastrointestinal tumour, stromal.|Gastrointestinal tumour, stromal|Gastrointestinal stromal tumour & mastocytosis|Gastrointestinal stromal tumors and urticaria pigmentosa|Altered miRNA:target gene mRNA duplex conformation |Acral melanoma, increased risk, association with|Achalasia, association with,Intracerebral haemorrhage, association with|Increased transcriptional activity|Increased mRNA levels |Increased mRNA expression  |Higher KDR mRNA levels in NSCLC, association|Haemangioma, infantile, association with|Coronary heart disease, association with|Coronary artery lesions of Kawasaki disease, association|Atherothrombotic stroke, association with	ICGC,
chr4	125202636	125202636	A	G	intergenic	LINC01091,LOC101927087	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23407858	-	EOPC-DE|1|202|0.00495	-	-	-,-	-,-	COSMIC,ICGC,
chr5	39604898	39604898	A	T	intergenic	LOC101926940,LINC00603	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr11	103270055	103270055	T	G	intronic	DYNC2H1	unknown	SNV	-	-	-	0.0054	rs112563463	-	-	-	0.043	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Short rib-polydactyly syndrome, type 3|Short rib-polydactyly syndrome, Majewski type|Short rib-polydactyly syndrome|Asphyxiating thoracic dystrophy	ICGC,
chrX	63764516	63764516	T	G	intergenic	MTMR8,ZC4H2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Autism spectrum disorder,Arthrogryposis multiplex congenita and intellectual disability	ICGC,
chr9	86047667	86047667	-	A	intronic	FRMD3	unknown	insertion	-	-	-	3.229e-05	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr6	47154296	47154296	G	A	intergenic	GPR110,TNFRSF21	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	mortality/aging,hematopoietic system phenotype	-,-	ICGC,
chr16	23224067	23224067	G	A	exonic	SCNN1G	nonsynonymous	SNV	0.273	0.698	-	-	-	-	-	-	-	COSM4894283	SKCM|1|368|0.00272	SKCM-US|1|335|0.00299	-	-	integument phenotype	Pseudohypoaldosteronism 1|Potential protein deficiency|Liddle syndrome.|Liddle syndrome|Hypertension|Gain of function|Decreased systolic and pulse pressure, association|Bronchiectasis	COSMIC,TCGA,ICGC,
chr6	128219068	128219068	T	G	intronic	THEMIS	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	hematopoietic system phenotype	-	ICGC,
chr1	215810736	215810736	G	T	intronic	USH2A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN28080352	-	PRAD-CA|1|308|0.00325	-	-	vision/eye phenotype	Retinitis pigmentosa?|Retinitis pigmentosa.|Sensorineural hearing loss, nonsyndromic  |Usher syndrome  |Usher syndrome 1  |Usher syndrome 2|Usher syndrome 2a|Usher syndrome 3 |Retinitis pigmentosa, recessive, no hearing loss|Retinitis pigmentosa, autosomal recessive.|Retinitis pigmentosa, autosomal recessive |Retinitis pigmentosa|Retinal degeneration|Hearing loss, early-childhood|Deafness, non-syndromic |Deafness  |Autism spectrum disorder|Autism	COSMIC,ICGC,
chr14	89267271	89267271	C	T	intergenic	EML5,TTC8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,Bardet-Biedl syndrome 	ICGC,
chr12	82932925	82932925	T	G	intergenic	METTL25,TMTC2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr19	22574240	22574240	G	T	UTR3	ZNF98	unknown	SNV	-	-	-	6.459e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr3	57452618	57452618	G	A	intronic	DNAH12	unknown	SNV	-	-	-	-	rs745337163	-	-	-	-	COSN1954400	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr4	135418397	135418397	G	T	intergenic	PABPC4L,LINC00613	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	Autism spectrum disorder  ,-	ICGC,
chr11	94731569	94731569	G	A	exonic	KDM4D	nonsynonymous	SNV	0.096	0.696	-	-	-	-	-	-	-	-	STAD|1|395|0.00253,STES|1|395|0.00253	-	-	-	vision/eye phenotype	-	TCGA,
chr13	97574869	97574869	C	A	intergenic	HS6ST3,LINC00359	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	-,-	-,-	ICGC,
chr18	53606816	53606816	G	A	intergenic	LOC101927273,LOC100505474	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr12	61356348	61356348	T	A	intergenic	SLC16A7,FAM19A2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	-,-	Autism spectrum disorder,-	ICGC,
chr2	100315078	100315078	-	T	intronic	AFF3	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN26284016	-	-	-	-	skeleton phenotype	Developmental delay  |Mesomelic dysplasia	COSMIC,
chr9	140803545	140803545	C	T	intronic	CACNA1B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype	Schizophrenia  |Asperger syndrome	ICGC,
chr1	172177888	172177888	C	T	intronic	DNM3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	mortality/aging	Reduced promoter activity	ICGC,
chr1	166899091	166899091	G	A	intronic	ILDR2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	cellular phenotype	-	ICGC,
chr3	185065943	185065943	A	G	intronic	MAP3K13	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr20	15936237	15936237	C	T	intronic	MACROD2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27918906	-	PRAD-CA|1|308|0.00325	-	-	-	Kabuki syndrome|Attention deficit hyperactivity disorder 	COSMIC,ICGC,
chr4	62779882	62779882	T	C	intronic	LPHN3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7641830	-	PACA-CA|1|268|0.00373	-	-	behavior/neurological phenotype	-	COSMIC,ICGC,
chr9	117383205	117383205	-	A	intronic	C9orf91	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	-	-	ICGC,
chr1	74147917	74147917	A	G	intergenic	LINC01360,LRRIQ3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr9	1489179	1489179	C	T	intergenic	DMRT2,SMARCA2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,integument phenotype	-,Short stature|Schizophrenia, association with   |Nicholaides-Baraitser syndrome|Multiple congenital anomalies  |Lung cancer, association with|Intellectual disabilty, short stature and dysmorphisms|Hepatocellular carcinoma, in smokers, association with.|Hepatocellular carcinoma, association with.|Developmental delay & dysmorphic features|Developmental delay & autistic features|Developmental delay  |Coffin-Siris syndrome	ICGC,
chr8	53162954	53162954	C	T	intronic	ST18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	UTCA-FR|1|20|0.05000	-	-	homeostasis/metabolism phenotype	-	ICGC,
chr16	63837823	63837823	G	A	intergenic	CDH8,CDH11	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,integument phenotype	Learning disability  |Autism & learning disability ,-	ICGC,
chr1	202136711	202136711	C	T	upstream	PTPRVP	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17589644	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	-	COSMIC,ICGC,
chr1	214582428	214582428	T	G	intronic	PTPN14	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	vision/eye phenotype	Choanal atresia/lymphedema syndrome	ICGC,
chr12	86986140	86986140	C	A	intronic	MGAT4C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	Prostate cancer, increased risk |Mental retardation	ICGC,
chr19	8241425	8241425	G	A	intergenic	FBN3,CERS4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	Polycystic ovary syndrome, association with ,-	ICGC,
chr20	51185885	51185885	C	T	intergenic	ZFP64,LOC101927700	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|3|183|0.01639	-	-	-,-	-,-	ICGC,
chr17	39255808	39255808	A	T	intergenic	KRTAP4-8,KRTAP4-9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	Potential protein deficiency|Autism spectrum disorder,-	ICGC,
chr3	175956590	175956590	T	C	intergenic	NAALADL2,LINC01208	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	ICGC,
chr13	68467867	68467867	G	A	intergenic	PCDH9,LINC00550	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr14	43587398	43587398	C	T	intergenic	LRFN5,FSCB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Short stature|Developmental delay, seizures & learning problems ,Tourette syndrome 	ICGC,
chr4	44282314	44282314	G	A	intronic	KCTD8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr12	99981671	99981671	G	A	intronic	ANKS1B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN4899659	-	-	-	-	-	Sertoli-cell-only syndrome|Schizophrenia  	COSMIC,
chr1	8067413	8067413	T	C	intergenic	PARK7,ERRFI1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1459398	-	LIRI-JP|1|258|0.00388	-	-	behavior/neurological phenotype,integument phenotype	Reduced expression|Parkinsonism  & amyotrophic lateral sclerosis|Parkinson disease, familial |Parkinson disease, early onset|Parkinson disease, autosomal recessive|Parkinson disease,-	COSMIC,ICGC,
chr11	79652090	79652090	G	A	intergenic	TENM4,LOC101928944	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	mortality/aging,-	-,-	ICGC,
chr1	187073626	187073626	A	T	intergenic	PLA2G4A,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20888131	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging,-	Asthma, association with|Cryptogenic multifocal ulcerating stenosing enteritis|Increased enzyme activity|Prostanoid biosynthesis deficiency,-	COSMIC,ICGC,
chr13	53907638	53907638	C	A	intergenic	OLFM4,LINC00558	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1612373	-	LIRI-JP|1|258|0.00388	-	-	hematopoietic system phenotype,-	Potential protein deficiency,-	COSMIC,ICGC,
chrX	130601907	130601907	C	T	intergenic	IGSF1,OR13H1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	normal phenotype,-	Central hypothyroidism|Central hypothyroidism & testicular enlargement,Autism spectrum disorder	ICGC,
chr12	85045763	85045763	A	T	intergenic	TMTC2,SLC6A15	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7384679	-	PACA-AU|1|391|0.00256	-	-	-,reproductive system phenotype	-,Increased maximal 3H proline uptake	COSMIC,ICGC,
chrX	113948792	113948792	A	T	intronic	HTR2C	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19573704	-	-	-	-	integument phenotype	Tourette syndrome, association with|Tardive dyskinesia, association with|Suicide, association with|Reduced promoter activity|Premature ejaculation, association with|Increased promoter activity, association with|Hallucinations, in Alzheimer disease, association|Greater dopamine release|Alcohol use disorder comorbidity, association with|Anxiety, and Appetite disturbances in females, in Alzheimer disease, association with.|Bipolar affective disorder, association with|BMI, association with|Depression, in Alzheimer disease, association with.|Diabetes, association with	COSMIC,
chrX	32629241	32629241	C	T	intronic	DMD	unknown	SNV	-	-	-	-	rs772474475	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging	Muscular dystrophy, Duchenne & Charcot-Marie-Tooth disease|Muscular dystrophy, Duchenne & autism|Muscular dystrophy, Duchenne|Muscular dystrophy, Becker.|Muscular dystrophy, Becker with cognitive impairment|Muscular dystrophy, Becker|Muscular dystrophy, Duchenne-like|Muscular dystrophy, Duchenne, epilepsy, macroglossia and mental retardation|Muscular dystrophy, Duchenne.|Muscular dystrophy, Duchenne/Becker|Muscular dystrophy, intermediate|Myopathy  |Potential protein deficiency|Schizophrenia|Muscular dystrophy, atypical|Muscular dystrophy & intellectual disability|Muscular dystrophy|Autism & neuromotor delay|Autism spectrum disorder|Behavioural issues|Cardiomyopathy, dilated|Cardiomyopathy, dilated, X-linked|Cardiomyopathy, dilated.|Dystrophinopathy|Elevated creatine kinase level|Mild Becker muscular dystrophy|Mental retardation, X-linked|Isolated cardiomyopathy|Increased serum creatine kinase levels|Global developmental delay/intellectual disability|Exertional myalgia, muscle stiffness & myoglobinuria	ICGC,
chr3	70385962	70385962	-	GTGT	intergenic	LINC01212,FOXP1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PEME-CA|1|112|0.00893	-	-	-,mortality/aging	-,Speech delay, contractures, hypertonia & blepharophimosis|Mental retardation, speech and language deficits|Intellectual disability & autism|Intellectual disability|Delayed speech/motor development & Chiari I malformation|Congenital heart defects|Childhood apraxia of speech|Autism, speech delay and deficit of motor coordination|Autism spectrum disorder  	ICGC,
chr4	38777161	38777161	T	C	exonic	TLR10	synonymous	SNV	-	-	1.628e-05	3.229e-05	rs763784697	1.65e-05	-	-	-	COSM2846318	-	-	-	-	-	Tumour size, reduced, in papillary thyorid carcinoma, association with|Prostate cancer, increased risk, association with |Asthma, atopic, association with|Allergic rhinitis, reduced risk, association with	COSMIC,
chr18	53899711	53899711	G	A	intergenic	LOC100505474,TXNL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr10	29163602	29163602	G	T	intronic	C10orf126	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr6	163311662	163311662	C	T	intronic	PACRG	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Infertility, male, association with |Leprosy, association with|Parkinson disease, early-onset 	ICGC,
chr8	59252414	59252414	C	T	intergenic	LOC101929528,UBXN2B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	ICGC,
chr6	18924305	18924305	T	G	intergenic	MIR548A1,LOC101928519	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr14	77164745	77164745	C	T	intergenic	ESRRB,VASH1	unknown	SNV	-	-	-	3.231e-05	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,cardiovascular system phenotype	Hearing loss|Deafness, non-syndromic |Deafness  ,-	ICGC,
chr1	223187482	223187482	T	-	intergenic	DISP1,TLR5	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging,hematopoietic system phenotype	Ventricular septal defect|Tetralogy of Fallot|Diaphragmatic hernia, congenital  |Craniofacial and neuro-developmental abnormalities,Urinary tract infection, increased risk|Survival in melioidosis, association with.|Survival in melioidosis, association with|Schizophrenia|Reduced function|Legionnaires disease, association with|Higher body mass index in CF patients, association with|Gastric cancer, increased risk|Crohn's disease, association with|Chronic yersiniosis susceptibility|Bronchopulmonary dysplasia, association with.	ICGC,
chr8	126873221	126873221	C	T	intergenic	TRIB1,LINC00861	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	immune system phenotype,-	Coronary artery disease, increased risk, association with,-	ICGC,
chr20	11583640	11583640	C	A	intergenic	LOC339593,LINC00687	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19495041	-	-	-	-	-,-	-,-	COSMIC,
chr1	19363146	19363146	G	A	intergenic	IFFO2,UBR4	unknown	SNV	-	-	-	0.0003	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,Episodic ataxia   	ICGC,
chr15	26258318	26258318	T	G	ncRNA_intronic	LOC100128714	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr10	83847830	83847830	C	T	intronic	NRG3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Schizophrenia, association with |Increased ventrolateral PFC activation|Hirschsprung disease  	ICGC,
chr3	144831289	144831289	C	T	intergenic	C3orf58,PLOD2	unknown	SNV	-	-	-	-	rs555928540	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Bruck syndrome	ICGC,
chr4	20944066	20944066	C	T	intronic	KCNIP4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Renal cell carcinoma 	ICGC,
chr1	94305143	94305143	T	A	intronic	BCAR3	unknown	SNV	-	-	-	0.2743	rs10489602	-	0.336861	-	0.377	-	-	LAML-KR|1|205|0.00488	-	-	vision/eye phenotype	-	ICGC,
chr5	136540603	136540603	G	A	intronic	SPOCK1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25415142	-	NKTL-SG|1|50|0.02000,MALY-DE|1|241|0.00415	-	-	normal phenotype	Developmental delay & microcephaly	COSMIC,ICGC,
chr8	94853047	94853047	T	C	intergenic	TMEM67,MIR378D2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2299462	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging,-	Senior-Loken syndrome  |Nephronophthisis-related ciliopathy|Nephronophthisis with liver fibrosis|Meckel-Gruber syndrome|Meckel syndrome with cerebellar heterotopia|Meckel syndrome|Joubert syndrome|COACH syndrome|Bardet-Biedl syndrome,-	COSMIC,ICGC,
chr8	106672334	106672334	C	G	intronic	ZFPM2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Atrial septal defect & gonadal dysgenesis|Diaphragmatic hernia, congenital|Double outlet right ventricle |Gonadal dysgenesis |Reduced activity|Tetralogy of Fallot 	ICGC,
chr7	15383814	15383814	G	T	intronic	AGMO	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19122123	-	CLLE-ES|1|510|0.00196	-	-	-	-	COSMIC,ICGC,
chr14	31576265	31576265	A	-	exonic	HECTD1	frameshift	deletion	-	-	-	-	-	-	-	-	-	COSM2194769	-	GACA-JP|1|585|0.00171	-	-	mortality/aging	-	COSMIC,ICGC,
chr21	20355531	20355531	A	T	intergenic	LOC101927797,LINC00320	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	RECA-EU|1|422|0.00237	-	-	-,-	-,-	ICGC,
chr8	124986921	124986921	-	AAAAAAAAA	intronic	FER1L6	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	-	ICGC,
chr16	67979609	67979609	G	A	intronic	SLC12A4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24387237	-	BTCA-JP|1|239|0.00418	-	-	-	-	COSMIC,COSMIC,ICGC,
chr3	117773991	117773991	G	A	intergenic	LINC00901,IGSF11	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr18	70951397	70951397	G	T	intergenic	LOC400655,LOC100505817	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr5	83488885	83488885	G	A	intronic	EDIL3	unknown	SNV	-	-	-	9.711e-05	-	-	-	-	-	COSN22260284	-	BRCA-EU|1|569|0.00176	-	-	immune system phenotype	Schizophrenia  	COSMIC,ICGC,
chr5	49535255	49535255	A	G	intergenic	NONE,EMB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr6	155008588	155008588	GG	AA	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr10	5808401	5808401	G	T	intronic	GDI2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr8	67497320	67497320	A	-	intronic	MYBL1	unknown	deletion	-	-	-	-	-	-	-	-	-	COSN25951564	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype	-	COSMIC,ICGC,
chr20	9520158	9520158	C	T	exonic	PAK7	nonsynonymous	SNV	0.018	0.826	-	-	-	-	-	-	-	-	COAD|1|367|0.00272,COADREAD|1|489|0.00204	-	-	-	mortality/aging	Glaucoma, primary open angle |Elevated LDL-cholesterol and triglyceride levels, association with.|Colorectal cancer, increased risk, association with	TCGA,
chr13	41146702	41146702	G	A	intronic	FOXO1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype	-	ICGC,
chrX	6401378	6401378	T	G	intergenic	MIR4770,VCX3A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24278139	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	-,-	-,Intellectual disability, absent speech & behavioural problems|Mental retardation 	COSMIC,COSMIC,ICGC,
chr7	57353579	57353579	C	T	intergenic	GUSBP10,MIR3147	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr2	150124139	150124139	T	C	intergenic	LYPD6B,LYPD6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Saccular intracranial aneurysm, association with	ICGC,
chr4	41559102	41559102	C	A	intronic	LIMCH1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr6	100160008	100160008	G	A	intergenic	PRDM13,MCHR2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr7	147260773	147260773	A	T	intronic	CNTNAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Gilles de la Tourette syndrome|Intellectual disability  |Learning disability & speech problems|Mental retardation |Mental retardation, Pitt-Hopkins-like|Multiple congenital anomalies  |Seizures, neonatal |Speech delay  |Stuttering |Epileptic encephalopathy  |Epilepsy and schizophrenia|Autism|Autism spectrum disorder |Autism spectrum disorder, modifier of|Childhood apraxia of speech|Cortical dysplasia-focal epilepsy syndrome|Developmental and/or speech and/or behavioural problems|Developmental delay  |Developmental delay & dysmorphic features|Dyslexia 	ICGC,
chr17	21355359	21355359	CC	TA	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr12	99489004	99489004	A	G	ncRNA_intronic	LOC101928937	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23609725	-	ESAD-UK|1|301|0.00332	-	-	-	-	COSMIC,ICGC,
chr3	130581332	130581332	T	A	intronic	ATP2C1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19180950	-	CLLE-ES|1|510|0.00196	-	-	integument phenotype	Genitoperineal papular acantholytic dyskeratosis|Hailey-Hailey disease|Hailey-Hailey disease with condyloma acuminata 	COSMIC,ICGC,
chr15	98724127	98724127	A	G	intergenic	LOC101927332,FAM169B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr1	213808859	213808859	A	T	intergenic	RPS6KC1,LINC00538	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	155410677	155410677	C	T	exonic	DCHS2	nonsynonymous	SNV	0.419	0.087	-	-	rs867106022	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Schizophrenia	ICGC,
chr17	9344462	9344462	G	C	intronic	STX8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr6	163449662	163449662	G	A	intronic	PACRG	unknown	SNV	-	-	-	0.1462	rs73783980	-	0.184904	-	0.116	-	-	LAML-KR|2|205|0.00976	-	-	-	Infertility, male, association with |Leprosy, association with|Parkinson disease, early-onset 	ICGC,
chr12	97000522	97000522	G	A	intergenic	CDK17,NEDD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,-	-,-	ICGC,
chr7	69715855	69715855	G	A	intronic	AUTS2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Speech & language disorder, tonic-clonic movements & pes planus|Myoclonic epilepsy, juvenile |Mental retardation|Intellectual disability, syndromic  |Epilepsy, nonlesional |Developmental delay, intellectual disability, short stature, ptosis & dysmorphism|Developmental delay  |Autism spectrum disorder  |Autism	ICGC,
chr5	21025195	21025195	C	T	intergenic	CDH18,GUSBP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	Anorectal malformation,-	ICGC,
chr2	55277956	55277956	-	G	upstream	RTN4	unknown	insertion	-	-	-	-	rs17046631	-	-	-	-	-	-	LMS-FR|3|67|0.04478	-	-	mortality/aging	-	ICGC,
chr11	124786418	124786418	T	G	intergenic	ROBO4,HEPACAM	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,no phenotypic analysis	-,Macrocephaly |Megalencephalic leukoencephalopathy with subcortical cysts	ICGC,
chr17	68690105	68690105	C	T	intergenic	KCNJ2,CASC17	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Long QT syndrome|Long QT syndrome.|Periodic paralysis|Short QT syndrome|Short QT syndrome 3|Sudden cardiac death  |Ventricular tachycardia|Catecholaminergic polymorphic ventricular tachycardia.|Atrial fibrillation.|Andersen syndrome|Andersen syndrome & catecholaminergic polymorphic ventricular tachycardia mimickry|Andersen-Tawil syndrome|Andersen-Tawil syndrome, without cardiac involvement|Andersen-Tawil syndrome.|Arrhythmia|Atrial fibrillation,-	ICGC,
chr3	86344176	86344176	A	C	intergenic	CADM2,RNU6-69P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chrX	2681205	2681205	-	ACCA	ncRNA_intronic	XGY2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr6	32377107	32377107	C	T	intergenic	BTNL2,HLA-DRA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	Systemic lupus erythematosus, association with.|Schizophrenia|Sarcoidosis, association with|Rheumatoid arthritis, susceptibility, association|Prostate cancer, susceptibility to |Potential protein deficiency|Leprosy, susceptibility to, association with|IgE response to dermatophagoides farinae, association with,Immunoglobulin A nephropathy, increased risk, association |Parkinson disease, late-onset, assoc with 	ICGC,
chr1	215133821	215133821	A	G	intergenic	CENPF,KCNK2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15012121	-	ESAD-UK|2|301|0.00664	-	-	-,mortality/aging	-,-	COSMIC,ICGC,
chr5	168861290	168861290	C	A	intergenic	SLIT3,SPDL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	mortality/aging,-	Schizophrenia  |Major depressive disorder |Autism spectrum disorder,-	ICGC,
chr11	126099773	126099773	C	T	intronic	FAM118B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr14	30509333	30509333	C	T	intergenic	PRKD1,G2E3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	mortality/aging,mortality/aging	Autism spectrum disorder|Mental retardation and microcephaly|Obesity ,-	ICGC,
chr8	134963629	134963629	T	A	intergenic	ST3GAL1,ZFAT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	hematopoietic system phenotype,mortality/aging	-,Autoimmune thyroid disease, association with	ICGC,
chr6	169278874	169278874	T	C	intergenic	SMOC2,THBS2	unknown	SNV	-	-	-	0.0009	rs556911578	-	-	-	-	COSN23964173	-	LAML-KR|1|205|0.00488	-	-	-,integument phenotype	Dental developmental defects|Oligodontia ,Myocardial infarction, protection, association |Lumbar-disc herniation, association with	COSMIC,ICGC,
chr5	145047146	145047146	T	C	intergenic	KCTD16,PRELID2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15369077	-	PRAD-UK|1|140|0.00714	-	-	-,-	-,-	COSMIC,ICGC,
chr1	211260176	211260176	G	C	intronic	KCNH1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15046799	-	ESAD-UK|1|301|0.00332	-	-	behavior/neurological phenotype	-	COSMIC,ICGC,
chr6	124514415	124514415	C	T	intronic	NKAIN2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Developmental delay and recurrent infection|Various neurological abnormalities	ICGC,
chr14	87544010	87544010	G	A	intergenic	LOC283585,GALC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Krabbe disease, association with|Krabbe disease|Glaucoma, primary open-angle|Glaucoma, primary open angle	ICGC,
chr2	77609970	77609970	G	A	intronic	LRRTM4	unknown	SNV	-	-	-	0.3365	rs290032	-	0.306709	-	0.232	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr9	94846295	94846295	G	A	intronic	SPTLC1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Sensory and autonomic neuropathy  |Peripheral neuropathy|Neuropathy, hereditary sensory, type I|Neuropathy, hereditary sensory 	ICGC,
chr2	108225598	108225598	C	A	intergenic	ST6GAL2,RGPD4-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr13	71561099	71561099	C	T	intergenic	ATXN8OS,LINC00348	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,-	Huntington disease  |Spinocerebellar ataxia 8,-	ICGC,
chr2	197044062	197044062	C	G	intergenic	STK17B,HECW2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22383422	-	BRCA-UK|1|141|0.00709,BRCA-EU|1|569|0.00176	-	-	hematopoietic system phenotype,-	-,-	COSMIC,COSMIC,ICGC,
chr4	38286005	38286005	A	G	intergenic	TBC1D1,LINC01258	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	normal phenotype,-	Obesity, association with,-	ICGC,
chr21	38176826	38176826	G	C	intronic	HLCS	unknown	SNV	-	-	-	0.0458	rs75142443	-	0.0904553	-	0.029	-	-	ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488	-	-	-	Reduced biotin affinity|Multiple carboxylase deficiency|Increased activity|Holocarboxylase synthetase deficiency.|Holocarboxylase synthetase deficiency	ICGC,
chr6	114231024	114231024	-	A	ncRNA_intronic	FLJ34503	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN14685074	-	-	-	-	-	-	COSMIC,
chr15	32327258	32327258	T	A	intronic	CHRNA7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	P50 inhibitory defect, association with|P50 inhibitory defect, protection against, association with|Personality disorder |Reduced receptor activity|Schizophrenia|Seizures |Seizures, mental retardation, macrocytosis & retinal dysfunction|Speech & learning problems with autism|Mental retardation, seizures & dysmorphism|Encephalopathy with seizures & hypotonia|15q13.3 microdeletion syndrome|Attention deficit hyperactivity disorder & obsessive compulsive disorder|Autism|Autism spectrum disorder  |Congenital blindness & convulsive encephalopathy|Developmental delay  |Developmental delay, hypotonia, visual impairment & seizures|Developmental delay, mental retardation and seizures	ICGC,
chr9	28415232	28415232	G	A	intronic	LINGO2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	Autism spectrum disorder  |Developmental delay with absent speech	ICGC,
chr16	61867911	61867911	C	A	intronic	CDH8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	integument phenotype	Learning disability  |Autism & learning disability 	ICGC,
chr4	116553058	116553058	T	A	intergenic	NDST4,MIR1973	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	29162647	29162647	G	T	intergenic	MIR4275,PCDH7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	ICGC,
chr21	10755250	10755250	A	C	intergenic	TEKT4P2,TPTE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,-	-,Potential protein deficiency	ICGC,
chr11	36699747	36699747	T	C	intergenic	C11orf74,LOC103312105	unknown	SNV	-	-	-	0.0003	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr13	99045473	99045473	T	C	intronic	FARP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-	-	ICGC,
chr12	127784471	127784471	T	C	intergenic	LOC101927592,LOC101927616	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16274475	-	PRAD-CA|1|308|0.00325	-	-	-,-	-,-	COSMIC,ICGC,
chr5	15937162	15937162	T	C	exonic	FBXL7	nonsynonymous	SNV	0.306	0.002	-	-	-	-	-	-	-	COSM1065148	UCEC|1|248|0.00403	UCEC-US|1|250|0.00400	-	-	-	-	COSMIC,TCGA,ICGC,
chr7	20254726	20254726	-	AATT	intronic	MACC1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	Autism|Autism spectrum disorder  	ICGC,
chr10	11047304	11047304	-	A	UTR5	CELF2	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN20982926	-	-	-	-	-	-	COSMIC,
chr2	126989197	126989197	C	T	intergenic	CNTNAP5,GYPC	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26220014	-	PRAD-UK|1|140|0.00714	-	-	-,-	Autism,Glycophorin C variant|Gerbich-negative blood group|Elliptocytosis|Duch blood group	COSMIC,ICGC,
chr20	30903761	30903761	A	-	intronic	KIF3B	unknown	deletion	-	-	-	0.0027	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312,BTCA-SG|7|71|0.09859,MALY-DE|1|241|0.00415	-	-	mortality/aging	-	ICGC,
chr5	153333407	153333407	G	T	intergenic	GRIA1,FAM114A2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19314406	-	CLLE-ES|1|510|0.00196	-	-	integument phenotype,-	Intellectual disability  ,-	COSMIC,ICGC,
chrX	98199135	98199135	G	A	intergenic	DIAPH2,XRCC6P5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21923192	-	BRCA-EU|1|569|0.00176	-	-	cardiovascular system phenotype,-	Premature ovarian failure,-	COSMIC,ICGC,
chr8	82291747	82291747	G	T	intergenic	FABP5,PMP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	integument phenotype,-	-,-	ICGC,
chr1	221282376	221282376	C	T	intergenic	HLX,C1orf140	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|3|183|0.01639	-	-	integument phenotype,-	Asthma, association with|Diaphragmatic hernia, congenital ,-	ICGC,
chr9	112156358	112156358	G	T	intronic	PTPN3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	skeleton phenotype	Schizophrenia	ICGC,
chr4	96038571	96038571	A	T	intronic	BMPR1B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	mortality/aging	Pulmonary arterial hypertension|Prostate cancer, localised, association with|Breast cancer, increased risk, association with|Brachydactyly type A2|Acromesomelic chondrodysplasia, genital anomalies	ICGC,
chr2	138646025	138646025	C	T	ncRNA_intronic	LOC101928273	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr8	47164840	47164840	G	A	intergenic	NONE,LINC00293	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7672555	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	COSMIC,ICGC,
chr20	21740789	21740789	T	C	intergenic	PAX1,LINC01432	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,-	Klippel-Feil syndrome|Otofaciocervical syndrome|Spina bifida,-	ICGC,
chr7	38738831	38738831	C	T	intergenic	FAM183B,VPS41	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,-	ICGC,
chr13	63795655	63795655	A	C	intergenic	LINC00448,LINC00395	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr7	116370980	116370980	G	A	intronic	MET	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Papillary renal carcinoma|Lymphoedema |Gastric cancer|Diffuse large B-cell lymphoma |Cortical thickness, association with|Colorectal cancer  |Autism, association with|Autism spectrum disorder	ICGC,
chr3	131318260	131318260	G	A	intronic	CPNE4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr17	62095204	62095204	G	A	intronic	ICAM2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype	-	ICGC,
chr1	57889786	57889786	C	T	intronic	DAB1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7225097	-	PACA-AU|1|391|0.00256	-	-	mortality/aging	Syndromic cleft lip & palate	COSMIC,ICGC,
chr22	36305845	36305845	A	G	intronic	RBFOX2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20132727	-	PACA-CA|1|268|0.00373	-	-	mortality/aging	-	COSMIC,ICGC,
chr13	48427367	48427367	A	C	intergenic	HTR2A,SUCLA2	unknown	SNV	-	-	-	6.455e-05	rs192652200	-	0.000599042	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	skeleton phenotype,-	Bipolar I disorder, association with|Consolidation of episodic memory, association|Diminished hippocampal novelty processing, association with|Reduced sensitivity to clozapine, association with|Schizophrenia|Schizophrenia, association with|Suicidal behavior, association with|Systemic sclerosis, association with|Autism, association with|Attention deficit hyperactivity disorder, association with.|Affinity for and potency of atypical antipsychotic drugs, association|Age of onset, in temporal lobe epilepsy, association with.|Alcohol dependence and addiction, association with|Altered affinity for atypical antipsychotic drugs|Altered mRNA expression|Altered potency of atypical antipsychotic drugs|Altered splicing  |Anorexia nervosa, association with,Autism|Encephalomyopathic mitochondrial DNA depletion & methylmalonic aciduria|Encephalomyopathy & mitochondrial DNA depletion|Muscle hypotonia, dystonia, failure to thrive, sensorineural deafness, and dysmorphism|Schizophrenia  	ICGC,
chr10	132322429	132322429	C	T	intergenic	GLRX3,MIR378C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	-,-	ICGC,
chr5	152859355	152859355	C	G	intergenic	LOC101927134,GRIA1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7881710	-	PACA-AU|1|391|0.00256	-	-	-,integument phenotype	-,Intellectual disability  	COSMIC,ICGC,
chr4	37236444	37236444	C	T	intergenic	DTHD1,MIR4801	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Leber congenital amaurosis with myopathy,-	ICGC,
chr6	38213366	38213366	G	C	intronic	BTBD9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-FR|1|72|0.01389	-	-	behavior/neurological phenotype	Periodic limb movements in sleep, association 	ICGC,
chr6	33849104	33849104	T	C	intergenic	MLN,LINC01016	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr6	120754227	120754227	G	A	intergenic	LOC285762,TBC1D32	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Oro-facio-digital syndrome type IX	ICGC,
chr5	74642664	74642664	C	G	intronic	HMGCR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-UK|1|141|0.00709	-	-	mortality/aging	Altered splicing|Altered transcriptional activity|Alzheimer's disease, and cognitive deterioration in AD, association with.|LDL-cholesterol levels	ICGC,
chr13	86949131	86949131	A	T	intergenic	SLITRK6,MIR4500HG	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	behavior/neurological phenotype,-	High myopia and sensorineural deafness,-	ICGC,
chr12	112597515	112597515	G	A	downstream	HECTD4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	-	ICGC,
chr22	33193006	33193006	C	T	intronic	SYN3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	cellular phenotype	Schizophrenia, association with 	ICGC,
chr10	37505209	37505209	A	T	exonic	ANKRD30A	nonsynonymous	SNV	0.029	0.61	-	-	-	-	-	-	-	COSM4803650	-	LICA-FR|1|252|0.00397	-	-	-	-	COSMIC,COSMIC,ICGC,
chr10	130250949	130250949	-	T	intergenic	LINC01163,MGMT	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	-,mortality/aging	-,MGMT methylation in malignant pleural mesothelioma, association with|Non-Hodgkin lymphoma, increased risk|Pancreatic cancer, increased risk, association with|Promoter methylation and longer survival in glioblastoma patients, association with|Promoter methylation in colorectal cancer |MGMT methylation in lung cancer, increased risk, association with|MGMT methylation in colorectal cancer, association with|Lung cancer, risk, association with|Glioblastoma, reduced risk, association with |Endometrial cancer risk, association with|Cervical carcinoma, increased risk, association with|Cancer, increased risk|Altered enzyme activity	ICGC,
chr17	49239036	49239036	C	A	intronic	NME1,NME1-NME2	unknown	SNV	-	-	-	0.2349	rs2159359	-	0.234824	-	0.297	-	-	ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488	-	-	integument phenotype,-	Neuroblastoma,-	ICGC,
chr6	1522804	1522804	C	T	intergenic	FOXF2,FOXC1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	mortality/aging,integument phenotype	Disorders of sex development with cleft palate ,Rieger anomaly, with glaucoma|Congenital glaucoma|Glaucoma, aniridia, club feet & atrial septal defect|Iris hypoplasia|Ocular development anomalies|Ocular dysgenesis|Periventricular heterotopia with white matter abnormalities|Peter anolmaly|Rieger anomaly|Rieger anomaly with glaucoma |Congenital anomalies of the kidney and urinary tract|Axenfeld-Rieger syndrome with cardiac anomalies|Axenfeld-Rieger anomaly with De Hauwere syndrome|Aniridia|Anterior chamber defect, hypertelorism & deafness|Anterior segment defect, with glaucoma|Anterior segment dysgenesis|Aortic stenosis |Axenfeld anomaly|Axenfeld anomaly, with atrial septal defect|Axenfeld anomaly, with glaucoma|Axenfeld-Rieger & Peters' anomaly|Axenfeld-Rieger anomaly	ICGC,
chr8	140469891	140469891	G	A	intergenic	COL22A1,KCNK9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,respiratory system phenotype	-,Birk Barel mental retardation dysmorphism syndrome	ICGC,
chr4	57999597	57999597	C	T	ncRNA_intronic	IGFBP7-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr2	67387797	67387797	A	C	ncRNA_intronic	LOC102800447,LOC644838	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr18	22096493	22096493	C	T	intergenic	HRH4,LOC729950	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	immune system phenotype,-	Atopic dermatitis, increased risk|Systemic lupus erythematosus, increased risk, association with,-	ICGC,
chr10	108160936	108160936	G	A	intergenic	LOC101927549,SORCS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,other phenotype	-,Autism 	ICGC,
chr12	26358532	26358532	C	T	intronic	SSPN	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	-	ICGC,
chr16	18847134	18847134	T	C	intronic	SMG1	unknown	SNV	-	-	-	-	rs571594490	-	0.000199681	-	-	COSN21783000	-	PACA-CA|1|268|0.00373,BRCA-EU|1|569|0.00176	-	-	-	Potential protein deficiency	COSMIC,COSMIC,ICGC,
chr12	84217040	84217040	-	GTGTGTGT	intergenic	TMTC2,SLC6A15	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|3|67|0.04478	-	-	-,reproductive system phenotype	-,Increased maximal 3H proline uptake	ICGC,
chr5	86694670	86694670	G	C	intronic	CCNH	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-	-	ICGC,
chr5	135245845	135245845	C	T	intergenic	IL9,FBXL21	unknown	SNV	-	-	-	0.0001	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype,-	Trachomatous trichiasis infection, association with|Increased transcription|Atopic dermatitis, increased susceptibility, assoc with,-	ICGC,
chrX	91971113	91971113	G	A	intergenic	PCDH11X,NAP1L3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Absent speech, intellectual disability & behavioural problems|Attention deficit hyperactivity disorder & obsessive compulsive disorder|Developmental dyslexia |Language delay, nonsyndromic ,-	ICGC,
chr4	81649504	81649504	G	A	intronic	C4orf22	unknown	SNV	-	-	-	0.0967	rs36115335	-	0.138179	-	0.138	-	-	LAML-KR|1|205|0.00488	-	-	-	-	ICGC,
chr2	182853521	182853521	G	T	intronic	PPP1R1C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr8	72396002	72396002	G	A	intergenic	EYA1,MSC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|3|183|0.01639	-	-	mortality/aging,mortality/aging	Oto-facio-cervical syndrome|Peters' anomaly with cataracts|Renal hypodysplasia|Renal malformation|Ureteropelvic junction obstruction and reduced renal function|Iris anomaly|Hearing loss?|Deafness  |Cayler's cardiofacial syndrome|Cataract, autosomal dominant|Branchio-oto-renal syndrome|Branchio-oto-renal / branchiootic syndrome|Branchio-otic syndrome,-	ICGC,
chr14	98844917	98844917	C	T	intergenic	C14orf64,C14orf177	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	78249547	78249547	A	G	intergenic	ROBO2,ROBO1	unknown	SNV	-	-	-	6.46e-05	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,mortality/aging	Autism spectrum disorder  |Urinary tract anomalies|Vesicoureteral reflux,Developmental dyslexia 	ICGC,
chr18	33569510	33569510	A	-	downstream	RPRD1A	unknown	deletion	-	-	-	0.0003	rs560018496	-	0.00159744	-	-	-	-	COCA-CN|1|321|0.00312,PBCA-DE|1|499|0.00200	-	-	-	-	ICGC,
chr11	92520103	92520103	G	T	intronic	FAT3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	vision/eye phenotype	Autism spectrum disorder	ICGC,
chr2	141000681	141000681	C	T	intronic	LRP1B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|2|183|0.01093	-	-	mortality/aging	Schizophrenia   	ICGC,
chr2	220616797	220616797	A	C	intergenic	SLC4A3,MIR4268	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype,-	Epilepsy, idiopathic generalised, association with|Glaucoma, primary congenital,-	ICGC,
chr11	127287844	127287844	T	C	intergenic	LOC101929497,ETS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6991505	-	PACA-AU|1|391|0.00256	-	-	-,mortality/aging	-,Systemic lupus erythematosus, association with	COSMIC,ICGC,
chr5	147269036	147269036	C	T	intergenic	SCGB3A2,C5orf46	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	UGRP1 plasma levels, association with|Graves' disease|Graves disease, susceptibility to, association|Graves disease, increased risk|Asthma, increased risk, association with,-	ICGC,
chr10	129267370	129267370	C	T	intergenic	DOCK1,NPS	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	mortality/aging,-	Potential protein deficiency,Decreased bioactivity	ICGC,
chr19	13571756	13571756	G	A	intronic	CACNA1A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5849443	-	LINC-JP|1|394|0.00254	-	-	integument phenotype	Hemiplegic migraine with cerebellar signs|Hemiplegic migraine, cerebellar dysfunction & cognitive decline|Hemiplegic migraine, coma, cerebellar atrophy|Hemiplegic migraine, coma, cerebellar atrophy.|Hemiplegic migraine, progressive cerebellar ataxia|Hemiplegic migraine/alternating hemiplegia of childhood|Hyperinsulism ?|Ischemic stroke|Mental retardation & epilepsy with infantile spasms|Migraine.|Nystagmus and late-onset ataxia|Paroxysmal head tremor, adult-onset|Progressive cerebellar ataxia|Reduced function   |Spinocerebellar ataxia 6|Hemiplegic migraine with acute striatal necrosis.|Hemiplegic migraine type 1|Altered function|Ataxia, mental retardation and dyskinesia|Benign paroxysmal torticollis of infancy.|Cerebellar ataxia  |Cerebellar ataxia.|Cerebellar atrophy, early-onset|Epilepsy, idiopathic|Episodic ataxia|Episodic ataxia 2|Episodic seizures, ataxia, and migraine with motor regression|Head tremor|Hemiconvulsion-hemiplegia-epilepsy syndrome|Hemiplegic migraine|Hemiplegic migraine and ataxia|Hemiplegic migraine and episodic ataxia 2	COSMIC,ICGC,
chr14	52473366	52473366	A	G	exonic	NID2	nonsynonymous	SNV	0.001	0.997	-	-	-	-	-	-	-	COSM2199334	-	-	-	-	cellular phenotype	-	COSMIC,
chr1	243983501	243983501	G	A	intronic	AKT3	unknown	SNV	-	-	-	0.0100	rs144153979	-	0.028754	-	0.014	-	-	LAML-KR|1|205|0.00488	-	-	mortality/aging	Microcephaly, abnormalities of the corpus callosum & seizures |Microcephaly & abnormalities of the corpus callosum |Microcephaly |Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome|Megalencephaly-capillary malformation syndrome|Megalencephaly-capillary malformation / megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome|Macrocephaly, megalencephaly & developmental delay	ICGC,
chr11	45609376	45609376	G	A	intergenic	LOC399886,CHST1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr10	9175135	9175135	C	T	intergenic	LINC00708,LOC101928272	unknown	SNV	-	-	-	0.0002	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr1	88531841	88531841	T	A	intergenic	LINC01364,PKN2-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr7	131798423	131798423	T	A	intergenic	LOC101928782,PLXNA4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN4866087	-	MALY-DE|1|241|0.00415	-	-	-,-	-,Autism|Parkinson disease  	COSMIC,ICGC,
chr1	167177996	167177996	C	T	intergenic	LINC01363,POU2F1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,integument phenotype	-,-	ICGC,
chr8	69101233	69101233	G	A	intronic	PREX2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	-	ICGC,
chr17	61987333	61987333	T	C	intronic	CSHL1	unknown	SNV	1.0	-	0.0018	0.0007	rs149595230	0.0015	0.00299521	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-	-	ICGC,
chr10	133913328	133913328	C	T	intergenic	BNIP3,JAKMIP3	unknown	SNV	-	-	-	9.701e-05	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	hematopoietic system phenotype,-	-,-	ICGC,
chr20	35465761	35465761	T	A	intronic	SOGA1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr4	37997088	37997088	T	A	intronic	TBC1D1	unknown	SNV	-	-	-	0.0284	rs1544868	-	0.0177716	-	0.072	-	-	ESAD-UK|2|301|0.00664	-	-	normal phenotype	Obesity, association with	ICGC,
chr1	224833286	224833286	G	A	intronic	CNIH3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr1	220333388	220333388	A	C	intronic	RAB3GAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-	Martsolf syndrome|Spastic paraplegia 69|Warburg Micro syndrome	ICGC,
chr5	99901994	99901994	T	G	intronic	FAM174A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr3	181284344	181284344	G	A	ncRNA_intronic	SOX2-OT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr1	56103786	56103786	G	A	intergenic	MIR4422,PPAP2B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,mortality/aging	-,-	ICGC,
chr1	182897645	182897645	C	T	intronic	SHCBP1L	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr6	152737734	152737734	A	C	exonic	SYNE1	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM1267107	STAD|1|395|0.00253,STES|1|395|0.00253	STAD-US|1|289|0.00346	-	-	mortality/aging	Schizophrenia|Muscular dystrophy, Emery-Dreifuss|Intellectual disability, spastic paraplegia, axon neuropathy & leukoencephalopathy|Cerebellar ataxia|Cardiomyopathy, dilated|Autism spectrum disorder|Autism|Arthrogryposis multiplex congenita with axoglial defects|Arthrogryposis 	COSMIC,COSMIC,COSMIC,COSMIC,COSMIC,TCGA,ICGC,
chr14	43230899	43230899	C	T	intergenic	LRFN5,FSCB	unknown	SNV	-	-	-	3.233e-05	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	Short stature|Developmental delay, seizures & learning problems ,Tourette syndrome 	ICGC,
chr11	30761571	30761571	G	A	intergenic	MPPED2,DCDC5	unknown	SNV	-	-	-	3.234e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Dyslexia |Schizophrenia  	ICGC,
chr5	168373062	168373062	G	-	intronic	SLIT3	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	mortality/aging	Schizophrenia  |Major depressive disorder |Autism spectrum disorder	ICGC,
chr9	133946908	133946908	G	A	exonic	LAMC3	nonsynonymous	SNV	1.0	0.001	-	-	-	-	-	-	-	COSM5875701	-	MELA-AU|1|183|0.00546	-	-	vision/eye phenotype	Occipital pachygyria|Colorectal cancer |Bilateral occipital pachygyria|Autism spectrum disorder|Autism	COSMIC,ICGC,
chr4	11988224	11988224	G	A	intergenic	HS3ST1,RAB28	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	-,Breast cancer risk, association with |Cone-rod dystrophy, autosomal recessive	ICGC,
chr5	42000316	42000316	C	T	intergenic	FBXO4,LOC101926960	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332,SKCA-BR|1|100|0.01000	-	-	mortality/aging,-	-,-	ICGC,
chr1	185383847	185383847	C	G	intergenic	GS1-279B7.1,LINC01350	unknown	SNV	-	-	-	0.3476	rs10911723	-	0.311302	-	0.304	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr2	56087506	56087506	T	C	intergenic	PNPT1,EFEMP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	mortality/aging,integument phenotype	Hearing loss  |Respiratory chain deficiency ,Malattia leventinese	ICGC,
chr2	49653798	49653798	T	A	intergenic	FSHR,NRXN1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17562809	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,mortality/aging	Ovarian hyperstimulation syndrome|Ovarian hyperstimulation syndrome, association with|PCOS, association|PCOS, association with|Poor ovarian response to gonadotrophin stimulation, association|Premature ovarian failure|Premature ovarian failure, association with|Premature ovarian failure, early-onset|Primary amenorrhea|Reduced mRNA and protein expression, association with|Secondary amenorrhea|Serum FSH levels, association with|Sterility|Twinning, dizygotic|Ovarian hyperstimulation response, association with|Ovarian cancer, association with|Ovarian cancer susceptibility, association with|Decr. total testes volume and altered serum reproductive hormone levels, in men, association with.|Decreased promoter activity|Endometriosis risk, association with|Endometriosis, risk, association with|FSHR activation|FSHR inactivation|Hormone levels in PCOS, association with|Hypergonadotropic hypogonadism|Menstrual cycle, length, association with|Lower basal FSH level, association with|Increased serum FSH levels, association with|Increased promoter activity|Hypertension, female, association with|Hypergonadotropic ovarian failure,Hypotonia|Hypotonia & encephalopathy|Increased white matter volume, association with|Intellectual disability  |Intellectual disability & attention deficit hyperactivity disorder|Intellectual disability & hearing loss|Intellectual disability & pervasive developmental disorder|Intellectual disability and autism|Intellectual disability, nonsyndromic |Intellectual disability, seizures, dysmorphisms & language delay|Growth retardation  |Epilepsy, myoclonic seizures & speech delay|Developmental disorder|Developmental disorder & attention deficit hyperactivity disorder|Developmental disorder, seizures & attention deficit hyperactivity disorder|Developmental/intellectual disability, hypotonia & dysmorphic features|Disorder of muscle, ligament & fascia|Encephalopathy  |Epilepsy  |Epilepsy with cognitive impairment / autism spectrum disorder|Epilepsy with focal seizures|Epilepsy, generalised |Intellectual disability, seizures, language delay & hypotonia|Language delay|Learning difficulties|Respiratory distress & sepsis|Respiratory distress syndrome|Schizophrenia |Schizophrenia, childhood onset |Schizophrenia, disorganised type|Seizures, generalized tonic-clonic & attention deficit hyperactivity disorder|Sensory integration disorder & attention deficit hyperactivity disorder|Speech delay & social communication difficulties|Tourette syndrome|Pervasive developmental disorder / hypotonia|Pervasive developmental disorder|Pervasive developmental delay / mental retardation, lack of coordination & hearing loss|Learning difficulties, ADHD & autism|Mental retardation|Mental retardation, autism, vertebral malformations|Mental retardation, Pitt-Hopkins-like|Microcephaly & mental retardation|Multiple congenital anomalies  |Multiple disabilities|Myoclonic epilepsy   |Neurodevelopmental disorder  |Vertebral anomalies|Developmental delay, speech delay & social communication difficulties|Attention deficit hyperactivity disorder |Autism spectrum disorder, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability & language delay|Autism spectrum disorder, intellectual disability, dysmorphisms, developmental delay & language delay|Autism spectrum disorder, intellectual disability, seizures & developmental delay|Autism spectrum disorder, intellectual disability, seizures, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability, seizures, dysmorphisms & language delay|Autism spectrum disorder, seizures, developmental delay & language delay|Autism, intellectual disability & attention deficit hyperactivity disorder|Autistic disorder|Autism spectrum disorder with developmental & speech delay|Autism spectrum disorder & seizures|Autism spectrum disorder & language delay|Autism |Autism & learning difficulties|Autism & mental retardation|Autism & seizures|Autism spectrum disorder|Autism spectrum disorder & attention deficit hyperactivity disorder|Autism spectrum disorder & developmental delay|Autism spectrum disorder & dysmorphic features|Autism spectrum disorder & intellectual disability|Behavioural problems|Congenital heart defect  |Craniofacial dysmorphism|Developmental delay & speech/motor delay|Developmental delay with early-onset epilepsy|Developmental delay, dysmorphic features & short stature|Developmental delay, epilepsy, autism|Developmental delay, language delay & hypotonia|Developmental delay, learning difficulties, ADHD|Developmental delay, microcephaly & behavioural problems|Developmental delay, pulmonic stenosis & autism spectrum disorder|Developmental delay, short stature and diaphragmatic hernia|Developmental delay, speech delay & microcephaly|Developmental delay & seizures|Developmental delay & seizure disorder|Cystic hygroma, hydrops & micrognathia|Cystic hygroma, shortened upper limbs & fetal demise|Developmental & speech delay|Developmental delay|Developmental delay / autism|Developmental delay & autism|Developmental delay & dysmorphic features|Developmental delay & epilepsy|Developmental delay & hypotonia|Developmental delay & multiple congenital anomalies	COSMIC,ICGC,
chr3	7647798	7647798	G	A	intronic	GRM7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	mortality/aging	Schizophrenia, association with  |Autism |Attention deficit hyperactivity disorder	ICGC,
chr8	47501850	47501850	C	A	intergenic	NONE,LINC00293	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9636860	-	OV-AU|1|93|0.01075	-	-	-,-	-,-	COSMIC,ICGC,
chr20	50754571	50754571	-	AAAA	intronic	ZFP64	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	-	ICGC,
chr2	81097818	81097818	A	G	intergenic	CTNNA2,LOC100507201	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	Schizophrenia,-	ICGC,
chr18	25390761	25390761	T	A	intergenic	CHST9,CDH2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1735014	-	LIRI-JP|1|258|0.00388	-	-	-,mortality/aging	-,Reduced expression|Potential protein deficiency|Alzheimer disease  	COSMIC,ICGC,
chr5	45533719	45533719	-	T	intronic	HCN1	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN27511096	-	-	-	-	integument phenotype	Idiopathic epilepsy, generalised 	COSMIC,
chr4	18813310	18813310	A	G	intergenic	LCORL,SLIT2	unknown	SNV	-	-	-	0.0052	rs4696944	-	0.0291534	-	0.022	-	-	LAML-KR|1|205|0.00488	-	-	-,mortality/aging	-,Schizophrenia  	ICGC,
chr17	7048019	7048019	A	G	intergenic	ASGR2,ASGR1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	mortality/aging,mortality/aging	-,-	ICGC,
chr20	30772342	30772342	G	T	intergenic	TM9SF4,TSPY26P	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7998343	-	PACA-CA|1|268|0.00373	-	-	skeleton phenotype,-	-,-	COSMIC,ICGC,
chr15	94257464	94257464	C	A	intergenic	RGMA,LOC101927153	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19370456	-	PACA-CA|1|268|0.00373	-	-	mortality/aging,-	Autism,-	COSMIC,ICGC,
chr16	84883591	84883591	C	T	intronic	CRISPLD2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr19	1466248	1466248	C	A	exonic	APC2	nonsynonymous	SNV	0.025	0.231	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	reproductive system phenotype	-	ICGC,
chr4	178358631	178358631	G	A	exonic	AGA	nonsynonymous	SNV	0.077	0.946	-	-	-	-	-	-	-	-	SKCM|2|368|0.00543	-	-	-	integument phenotype	Aspartylglucosaminuria	TCGA,
chr11	92026263	92026263	G	A	intergenic	DISC1FP1,FAT3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,vision/eye phenotype	-,Autism spectrum disorder	ICGC,
chr17	48309425	48309425	C	T	intergenic	LOC101927230,TMEM92	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	NKTL-SG|1|50|0.02000	-	-	-,-	-,-	ICGC,
chr11	83379167	83379167	A	G	intronic	DLG2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN4724603	-	MALY-DE|1|241|0.00415	-	-	integument phenotype	Schizophrenia and epilepsy|Myopathy  |Intellectual disability, autism and epilepsy|Hypochondriasis|Dysmorphic features & speech delay|Developmental delay and dysmorphic features|Developmental delay  	COSMIC,ICGC,
chr2	114939740	114939740	A	G	intergenic	LINC01191,DPP10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	UTCA-FR|1|20|0.05000	-	-	-,-	-,Autism spectrum disorder	ICGC,
chr3	191548231	191548231	A	G	intergenic	LINCR-0002,FGF12	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25089901	-	MALY-DE|1|241|0.00415	-	-	-,behavior/neurological phenotype	-,-	COSMIC,ICGC,
chr4	11303805	11303805	C	T	intergenic	CLNK,MIR572	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype,-	Immunodeficiency, common variable, association with,-	ICGC,
chr20	32783580	32783580	G	A	intergenic	EIF2S2,ASIP	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	mortality/aging,integument phenotype	-,Basal cell carcinoma, association with.|Dark hair and brown eyes, association with|MRNA levels, association with	ICGC,
chr8	4613624	4613624	T	A	intronic	CSMD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	Schizophrenia, association with |Hyperinsulinism|Autism|Attention deficit hyperactivity disorder 	ICGC,
chr11	39901699	39901699	C	-	intergenic	LOC101928536,LRRC4C	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	BOCA-UK|1|130|0.00769	-	-	-,-	-,-	ICGC,
chr3	49922602	49922602	G	A	intergenic	CAMKV,MST1R	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Potential protein deficiency	ICGC,
chrX	29572604	29572604	A	T	intronic	IL1RAPL1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8169885	-	PACA-CA|1|268|0.00373	-	-	nervous system phenotype	Mental retardation, X-linked|Mental retardation with dysmorphic features|Mental retardation and autism|Intellectual disability, X-linked with dysmorphism|Intellectual disability, X-linked|Intellectual disability, dysmorphic signs, deafness & behavioural problems|Intellectual disability & behavioural problems|Developmental delay, learning disability & microcephaly|Autism spectrum disorder  |Asperger syndrome	COSMIC,ICGC,
chr19	23740232	23740232	C	T	intergenic	ZNF91,ZNF675	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	178100210	178100210	G	C	intergenic	VEGFC,NEIL3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15163354	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,immune system phenotype	Lymphoedema, primary, Milroy-like,-	COSMIC,ICGC,
chr13	112541189	112541189	T	A	intergenic	TEX29,LINC00354	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27849434	-	UTCA-FR|1|20|0.05000	-	-	-,-	-,-	COSMIC,COSMIC,ICGC,
chr11	68149930	68149930	C	T	intronic	LRP5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Osteoporosis|Osteoporosis & hyperlipidaemia |Osteoporosis-pseudoglioma syndrome|Osteoporosis, association with |Osteoporosis, primary|Osteosclerosis|Osteosclerosis.|Peak bone mass in non-sedentary men, association with|Polycystic liver disease|Reduced Norrin signalling activity|Retinopathy of prematurity |Osteopetrosis|Lumbar spine bone-mineral content, association with|Lumbar spine bone mineral density, association with|Endosteal hyperostosis|Exudative vitreoretinopathy|Fractures in men, association with|High bone mass|High bone mass trait|Higher femoral neck bone mineral density, association with|Hypercholesterolaemia, increased risk, association with|Increased LRP5 signalling|Lower BMD in Japanese male workers, association with|Lower femoral neck bone mineral density, association with|Lower volumetric bone mineral density in women, association with	ICGC,
chr7	123838909	123838909	A	G	intergenic	TMEM229A,LOC101928211	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr20	33067896	33067896	G	A	intronic	ITCH	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Syndromic multisystem autoimmune disease	ICGC,
chr8	68720452	68720452	-	A	intergenic	CPA6,PREX2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|3|67|0.04478	-	-	-,behavior/neurological phenotype	Temporal lobe epilepsy, association with|Temporal lobe epilepsy|Reduced protein expression|Reduced activity|Potential protein deficiency|Febrile seizures|Duane retraction syndrome 1,-	ICGC,
chr20	48726535	48726535	T	C	intronic	TMEM189-UBE2V1,UBE2V1	unknown	SNV	-	-	-	0.2847	rs6125905	-	0.302516	-	0.210	COSN17937166	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	COSMIC,ICGC,
chr6	8558423	8558423	A	C	ncRNA_intronic	LOC100506207	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9914997	-	RECA-EU|1|422|0.00237	-	-	-	-	COSMIC,ICGC,
chr21	15525367	15525367	A	G	intronic	LIPI	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN28083711	-	PRAD-CA|1|308|0.00325	-	-	integument phenotype	Plasma HDL cholesterol, association with|Plasma HDL cholesterol|Hypertriglyceridaemia	COSMIC,ICGC,
chr8	14522547	14522547	A	C	intronic	SGCZ	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	Cervical artery dissection	ICGC,
chr4	40519253	40519253	G	C	intronic	RBM47	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7638706	-	PACA-CA|1|268|0.00373	-	-	-	-	COSMIC,ICGC,
chr1	239835066	239835066	A	C	intronic	CHRM3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7210954	-	PACA-AU|1|391|0.00256	-	-	vision/eye phenotype	Autistic disorder|Bladder malformation|Diabetes, type 2, increased risk, association |Tetralogy of Fallot	COSMIC,ICGC,
chr5	18802847	18802847	G	A	intergenic	LOC401177,CDH18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Anorectal malformation	ICGC,
chr20	12047173	12047173	A	G	intergenic	BTBD3,LOC101929486	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr4	67227966	67227966	A	C	intergenic	EPHA5-AS1,LOC101927237	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr7	150226440	150226440	C	T	intergenic	GIMAP7,GIMAP4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,immune system phenotype	-,-	ICGC,
chr19	32029199	32029199	G	A	intergenic	TSHZ3,THEG5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	-,-	ICGC,
chr18	32979696	32979696	C	T	intergenic	ZNF396,INO80C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr10	132379136	132379136	G	A	intergenic	GLRX3,MIR378C	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20773820	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	mortality/aging,-	-,-	COSMIC,COSMIC,ICGC,
chr3	71946927	71946927	G	A	intergenic	PROK2,LINC00877	unknown	SNV	-	-	-	0.0342	rs9816435	-	0.053115	-	0.043	COSN7706611	-	PACA-AU|1|391|0.00256	-	-	nervous system phenotype,-	Anosmia, isolated congenital|GnRH deficiency |Hypogonadotropic hypogonadism|Kallmann syndrome,-	COSMIC,ICGC,
chr19	17411707	17411707	C	T	exonic	ABHD8	nonsynonymous	SNV	0.164	0.472	4.136e-06	-	-	-	-	-	-	COSM6590927	-	-	-	-	-	-	COSMIC,
chr2	78937582	78937582	C	G	intergenic	LOC101927967,REG3G	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5958393	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr3	49443895	49443895	A	-	intronic	RHOA	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	-	ICGC,
chr7	147467636	147467636	T	G	intronic	CNTNAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8788454	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype	Gilles de la Tourette syndrome|Intellectual disability  |Learning disability & speech problems|Mental retardation |Mental retardation, Pitt-Hopkins-like|Multiple congenital anomalies  |Seizures, neonatal |Speech delay  |Stuttering |Epileptic encephalopathy  |Epilepsy and schizophrenia|Autism|Autism spectrum disorder |Autism spectrum disorder, modifier of|Childhood apraxia of speech|Cortical dysplasia-focal epilepsy syndrome|Developmental and/or speech and/or behavioural problems|Developmental delay  |Developmental delay & dysmorphic features|Dyslexia 	COSMIC,ICGC,
chr12	81422537	81422537	A	C	intergenic	LIN7A,ACSS3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	Intellectual disability in 12q21 deletion syndrome,-	ICGC,
chr8	55540301	55540301	G	T	exonic	RP1	nonsynonymous	SNV	0.023	0.138	-	-	-	-	-	-	-	COSM3649832	SKCM|1|368|0.00272	SKCM-US|1|335|0.00299	-	-	vision/eye phenotype	Retinitis pigmentosa, early-onset|Retinitis pigmentosa, autosomal recessive.|Retinitis pigmentosa, autosomal recessive|Retinitis pigmentosa, autosomal dominant|Retinitis pigmentosa|Potential protein deficiency|Leber congenital amaurosis|Hypertriglyceridaemia, association with|	COSMIC,TCGA,ICGC,
chr2	210156760	210156760	G	A	intergenic	PTH2R,MAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	no phenotypic analysis,mortality/aging	Autism spectrum disorder,Autism spectrum disorder  	ICGC,
chr1	57624152	57624152	G	A	intronic	DAB1	unknown	SNV	-	-	-	0.0100	rs141196348	-	0.00559105	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging	Syndromic cleft lip & palate	ICGC,
chr7	136218104	136218104	G	A	intergenic	LUZP6,CHRM2	unknown	SNV	-	-	-	3.228e-05	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388,MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Reduced expression|Major depression in women, association with|Cardiomyopathy, dilated	ICGC,
chr11	6500317	6500317	G	A	intronic	ARFIP2	unknown	SNV	-	-	-	0.0007	rs200729824	-	0.00319489	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-	-	ICGC,
chr16	80256771	80256771	C	G	ncRNA_intronic	LOC102724084	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	-	ICGC,
chr14	43183552	43183552	A	T	intergenic	LRFN5,FSCB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Short stature|Developmental delay, seizures & learning problems ,Tourette syndrome 	ICGC,
chr6	58613968	58613968	-	A	intergenic	GUSBP4,NONE	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr16	3245013	3245013	C	T	intergenic	ZNF213,OR1F1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Autism,-	ICGC,
chr4	65935755	65935755	T	G	intergenic	LOC401134,EPHA5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-,nervous system phenotype	-,Mental retardation|Dravet syndrome  |Attention deficit hyperactivity disorder & learning disabilities|Alzheimer disease  	ICGC,
chr2	186207991	186207991	C	T	intergenic	ZNF804A,LOC101927196	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Neurodevelopmental disease|Reduced cortical gray matter thickness|Schizophrenia and bipolar disorder, association with|Schizophrenia, association with  ,-	ICGC,
chr14	82618902	82618902	C	A	intergenic	LOC101928559,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5210173	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,COSMIC,ICGC,
chr2	117082348	117082348	C	G	intergenic	DPP10,DDX18	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15050022	-	ESAD-UK|1|301|0.00332	-	-	-,-	Autism spectrum disorder,-	COSMIC,ICGC,
chr13	49961035	49961035	T	C	intronic	CAB39L	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-	-	ICGC,
chrX	12364696	12364696	C	T	intronic	FRMPD4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype	Mental retardation, X-linked	ICGC,
chr13	57032630	57032630	A	T	intergenic	MIR5007,PRR20A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr5	128492504	128492504	T	A	intergenic	ISOC1,MIR4460	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr21	15701811	15701811	A	-	intergenic	ABCC13,HSPA13	unknown	deletion	-	-	-	-	-	-	-	-	0.007	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr4	163710516	163710516	G	A	intergenic	FSTL5,NAF1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Schizophrenia  |Rolandic epilepsy ,-	ICGC,
chr2	7774604	7774604	T	-	intergenic	LOC100506274,LOC101929551	unknown	deletion	-	-	-	0.0289	rs749109377	-	-	-	-	-	-	BTCA-SG|3|71|0.04225	-	-	-,-	-,-	ICGC,
chr4	144637238	144637238	A	C	intergenic	FREM3,GYPE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	Autism ,Autism spectrum disorder, association with	ICGC,
chr15	74043344	74043344	A	T	exonic	C15orf59	nonsynonymous	SNV	0.0	1.0	-	-	-	-	-	-	-	-	LUAD|1|543|0.00184	-	-	-	-	-	TCGA,
chr5	163870619	163870619	T	C	intergenic	MAT2B,LOC101927835	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17658010	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr2	188502354	188502354	C	T	intergenic	TFPI,GULP1	unknown	SNV	-	-	-	-	rs575849819	-	0.000399361	-	-	COSN23618980	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,-	Increased plasma TFPI|Lower plasma TFPI|Reduced expression|Thrombophilia, association with,-	COSMIC,COSMIC,ICGC,
chr4	173525450	173525450	C	T	intronic	GALNTL6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr2	75284861	75284861	A	T	intronic	TACR1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27703859	-	NKTL-SG|1|50|0.02000	-	-	integument phenotype	-	COSMIC,ICGC,
chr21	41279529	41279529	T	A	intronic	PCP4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	behavior/neurological phenotype	-	ICGC,
chr9	107562147	107562147	G	A	exonic	ABCA1	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM1755856	-	BLCA-CN|1|103|0.00971	-	-	mortality/aging	Increased triglyceride levels|Increased total cholesterol|Increased serum TC levels & decreased serum HDL-C and ApoAI|Increased risk of ischemic heart disease|Increased risk of coronary artery disease, association with|Increased risk of CAD, association |Increased plasma LDLc levels, association with|Increased plasma HDL cholesterol|Increased HDL-C|Ischemic heart disease, increased risk|Low HDL cholesterol levels, association with|Tangier disease.|Tangier disease|Susceptibility to radiation dermatitis|Smith-Lemli-Opitz syndrome, modifier of|Scott syndrome|Reduced total cholesterol|Reduced risk of coronary artery disease, association with|Reduced plasma HDL cholesterol|Reduced HDL cholesterol|Increased fenofibrate cholesterol efflux, association with|Improved long-term clinical outcome in coronary artery disease, association with.|Impaired insulin secretion|Coronary artery disease, protection against, association with|Autism spectrum disorder|Atrial fibrillation, protection, association with|Atherothrombotic cerebral infarction, protection, association|Atherosclerosis, association with|APOE e4 dependent alzheimer disease risk|Alzheimer's disease, association with |Altered HDL cholesterol levels|Altered HDL cholesterol|Coronary artery disease, reduced risk|Coronary heart disease, association with|Hypercholesterolaemia / hypertriglyceridaemia ?|Hypercholesterolaemia|HDL-C and TG levels, association with|HDL deficiency, dietary treatment response, association with|HDL deficiency|Coronary heart disease, protection against, association with.|Coronary heart disease, premature, association with|Coronary heart disease, increased risk, association with |Coronary heart disease, decreased risk, association with	COSMIC,ICGC,
chr13	76754721	76754721	G	A	intergenic	LMO7DN,KCTD12	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	75390173	75390173	G	A	intergenic	TYW3,LHX8	unknown	SNV	-	-	-	0.1031	rs77494417	-	0.0824681	-	0.087	-	-	ESAD-UK|1|301|0.00332,SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,Cleft lip 	ICGC,
chr12	8046089	8046089	G	A	intergenic	SLC2A14,SLC2A3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,Rheumatoid arthritis, protection against	ICGC,
chr8	49874980	49874980	T	C	intergenic	SNAI2,C8orf22	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	integument phenotype,-	Neural tube defect|Piebaldism|Tetralogy of Fallot|Waardenburg syndrome,-	ICGC,
chr6	94770428	94770428	A	G	intergenic	TSG1,MANEA-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	-,-	-,-	ICGC,
chr2	53532413	53532413	A	G	intergenic	NONE,ASB3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6186308	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr13	69610140	69610140	T	C	intergenic	LINC00550,KLHL1	unknown	SNV	-	-	-	0.0405	rs9805241	-	-	-	0.007	-	-	SKCA-BR|1|100|0.01000	-	-	-,behavior/neurological phenotype	-,Breast cancer, increased risk  	ICGC,
chr12	84255064	84255064	-	T	intergenic	TMTC2,SLC6A15	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,reproductive system phenotype	-,Increased maximal 3H proline uptake	ICGC,
chr7	130859797	130859797	-	GCAG	intronic	MKLN1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	integument phenotype	-	ICGC,
chr19	43560893	43560893	T	A	intergenic	PSG11,PSG2	unknown	SNV	-	-	-	0.0002	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,Potential protein deficiency	ICGC,
chr15	30198404	30198404	G	A	intergenic	TJP1,GOLGA8J	unknown	SNV	-	-	-	-	rs530303426	-	0.000199681	-	-	COSN24554002	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	COSMIC,ICGC,
chr2	154502957	154502957	T	-	intergenic	RPRM,GALNT13	unknown	deletion	-	-	-	0.1546	rs144713755	-	0.259784	-	-	-	-	ESAD-UK|1|301|0.00332,PACA-CA|1|268|0.00373	-	-	-,normal phenotype	-,-	ICGC,
chr7	1100098	1100098	C	T	intronic	C7orf50	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr9	24802658	24802658	G	C	intergenic	IZUMO3,TUSC1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	ICGC,
chr1	216183103	216183103	C	T	intronic	USH2A	unknown	SNV	-	-	-	0.4754	rs11120711	-	0.490615	-	0.529	-	-	LAML-KR|1|205|0.00488	-	-	vision/eye phenotype	Retinitis pigmentosa?|Retinitis pigmentosa.|Sensorineural hearing loss, nonsyndromic  |Usher syndrome  |Usher syndrome 1  |Usher syndrome 2|Usher syndrome 2a|Usher syndrome 3 |Retinitis pigmentosa, recessive, no hearing loss|Retinitis pigmentosa, autosomal recessive.|Retinitis pigmentosa, autosomal recessive |Retinitis pigmentosa|Retinal degeneration|Hearing loss, early-childhood|Deafness, non-syndromic |Deafness  |Autism spectrum disorder|Autism	ICGC,
chr22	46892291	46892291	C	T	intronic	CELSR1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	integument phenotype	Craniorachischisis|Neural tube defects|Spina bifida  	ICGC,
chr18	30861884	30861884	G	A	intronic	CCDC178	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr2	139917689	139917689	C	T	intergenic	YY1P2,LRP1B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Schizophrenia   	ICGC,
chr15	55614612	55614612	A	G	intronic	PIGB	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1680022	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr11	134480553	134480553	-	T	intergenic	LOC283177,NONE	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LINC-JP|1|394|0.00254	-	-	-,-	-,-	ICGC,
chr8	42664083	42664083	G	A	intergenic	CHRNA6,THAP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	nervous system phenotype,-	-,Spasmodic dysphonia |Dystonia, primary torsion|Dystonia, generalised|Dystonia, early-onset|Dystonia, cervical|Dystonia 6, torsion|Dystonia 6|Dystonia|Blepharospasm, benign essential	ICGC,
chr11	116105447	116105447	G	A	intergenic	LINC00900,BUD13	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	206857637	206857637	C	T	upstream	MAPKAPK2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Lung cancer, increased risk, association with|Nasopharyngeal carcinoma, EBV associated, increased risk	ICGC,
chr7	94545681	94545681	G	A	intronic	PPP1R9A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9774579	-	RECA-EU|1|422|0.00237	-	-	behavior/neurological phenotype	-	COSMIC,ICGC,
chr15	62092491	62092491	C	T	intergenic	RORA,VPS13C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Obesity,Schizophrenia  	ICGC,
chr4	167898870	167898870	C	A	intronic	SPOCK3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	-	ICGC,
chr13	83398921	83398921	G	A	intergenic	NONE,SLITRK1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Trichotillomania|Tourette syndrome|Obsessive-compulsive disorder |Attention deficit hyperactivity disorder 	ICGC,
chr11	83059887	83059898	TACTCTATTTAA	-	intergenic	CCDC90B,DLG2	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,integument phenotype	Autism,Schizophrenia and epilepsy|Myopathy  |Intellectual disability, autism and epilepsy|Hypochondriasis|Dysmorphic features & speech delay|Developmental delay and dysmorphic features|Developmental delay  	ICGC,
chr1	54737573	54737573	G	A	intronic	SSBP3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	-	ICGC,
chr5	85993399	85993399	G	A	intergenic	COX7C,LOC100505878	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	89066075	89066075	C	T	intronic	ABCG2	unknown	SNV	-	-	-	0.2657	rs6857600	-	0.307109	-	0.341	COSN7645173	-	LAML-KR|1|205|0.00488	-	-	integument phenotype	Jr(a-) blood group variant|Non-papillary renal cell carcinoma, association with|Reduced ATPase activity|Reduced ATPase activity, association with|Reduced function |Reduced protein expression|Serum uric acid levels, association with|Jr(a-) blood group|Ischemic stroke|Impaired porphyrin transport|Altered drug metabolism|Breast cancer resistance protein deficiency|Breast cancer resistance protein deficiency, association with|Cancer susceptibility, decreased risk, association with|Defective porphyrin transport|Gout, association with|Hyperuricaemia	COSMIC,ICGC,
chrX	25236905	25236905	G	A	intergenic	ARX,MAGEB18	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6496524	-	LIRI-JP|1|258|0.00388	-	-	integument phenotype,-	Infantile spasms & intellectual disability|Intellectual disability & dystonia|Intellectual disability, X-linked|Lissencephaly, X-linked, with abnormal genitalia|Mental retardation|Mental retardation and epilepsy|Neurodegeneration   |Neurodegeneration with Ohtahara syndrome and mov disord|Ohtahara syndrome|Ohtahara syndrome with developmental delay|Partington syndrome|Infantile spasm syndrome, X-linked|Generalized dystonia without infantile spasms|ACC, epilepsy, abnormal genitalia|ACC, infantile spasms & abnormal genitalia|ACC, lissencephaly, seizures & genital hypoplasia|ACC, mental retardation, epilepsy & dyskinetic quadriparesis|Asymmetric polymicrogyria & periventricular nodular heterotopia|Autism spectrum disorder|Developmental delay and early hand preference.|Epilepsy, early-onset|Epilepsy, early-onset.|Epileptic encephalopathy, early infantile|Epileptic encephalopathy, early onset,-	COSMIC,ICGC,
chr20	46435468	46435468	G	A	intergenic	SULF2,LOC101927457	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23124402	-	MALY-DE|1|241|0.00415	-	-	mortality/aging,-	Schizophrenia,-	COSMIC,ICGC,
chr1	163566068	163566068	C	T	intergenic	LOC100422212,PBX1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,integument phenotype	-,Schizophrenia	ICGC,
chr5	5760921	5760921	A	G	intergenic	ICE1,FLJ33360	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6922928	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr14	80706644	80706644	T	A	ncRNA_intronic	DIO2-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr9	78862687	78862687	A	T	intronic	PCSK5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging	Low HDL cholesterol	ICGC,
chr2	195176867	195176867	C	T	intergenic	PCGEM1,LOC101927406	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	191118568	191118568	G	T	intergenic	LOC440704,RGS18	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1421794	-	LIRI-JP|1|258|0.00388	-	-	-,no phenotypic analysis	-,Potential protein deficiency	COSMIC,ICGC,
chr17	40022339	40022339	C	T	downstream	KLHL11	unknown	SNV	-	-	-	0.0546	rs570748949	-	-	-	-	COSN17496161	-	LAML-KR|1|205|0.00488,SKCA-BR|1|100|0.01000,PBCA-US|2|186|0.01075	-	-	-	-	COSMIC,ICGC,
chr6	86787511	86787511	C	G	intergenic	SNHG5,HTR1E	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr18	69378697	69378714	TGTGTGTGTGTTTGTGTT	-	intergenic	LOC100505776,CBLN2	unknown	deletion	-	-	-	0.0708	rs772088022	-	-	-	-	-	-	COCA-CN|2|321|0.00623	-	-	-,behavior/neurological phenotype	-,-	ICGC,
chr10	78996965	78996965	C	A	intronic	KCNMA1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	mortality/aging	Hypertension, association with |Generalized epilepsy and paroxysmal dyskinesia|Autism	ICGC,
chr18	47685391	47685391	C	T	intronic	MYO5B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Microvillus inclusion disease	ICGC,
chr2	142552968	142552968	C	T	intronic	LRP1B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN4985638	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Schizophrenia   	COSMIC,COSMIC,ICGC,
chr8	51403594	51403594	G	A	intronic	SNTG1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17820054	-	ESAD-UK|1|301|0.00332	-	-	-	Autism|Intellectual disability, cleft palate, hearing loss and dysmorphisms	COSMIC,ICGC,
chr11	121955663	121955663	G	A	intergenic	SORL1,MIR100HG	unknown	SNV	-	-	-	0.0003	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	other phenotype,-	Alzheimer disease, association with|Alzheimer disease, early onset,-	ICGC,
chr12	4213997	4213997	C	T	intergenic	PARP11,CCND2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Diabetes, type 2, reduced risk|Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome	ICGC,
chr10	23079983	23079983	T	A	intergenic	PIP4K2A,ARMC3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	Schizophrenia, association with  |Hyperdiploid acute lymphoblastic leukaemia, association with,-	ICGC,
chr5	167707537	167707537	G	C	intergenic	TENM2,WWC1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,behavior/neurological phenotype	-,Increased hippocampal volume, association with|Improved memory performance, association with	ICGC,
chr2	56778397	56778397	G	A	intergenic	CCDC85A,VRK2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	163063397	163063397	G	A	intergenic	LINC01192,SI	unknown	SNV	-	-	-	0.0396	rs112702957	-	0.0215655	-	0.007	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,Sucrase isomaltase deficiency	ICGC,
chr7	136592805	136592805	G	A	ncRNA_intronic	LOC349160	unknown	SNV	-	-	-	6.503e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr1	12570999	12571001	TGA	-	UTR3	VPS13D	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging	-	ICGC,
chr7	20637330	20637330	G	A	intergenic	ITGB8,ABCB5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	-,Autism spectrum disorder	ICGC,
chr8	74054697	74054697	C	T	intergenic	SBSPON,LOC100130301	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22485729	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr13	87215216	87215216	G	A	intergenic	SLITRK6,MIR4500HG	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388,MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,-	High myopia and sensorineural deafness,-	ICGC,
chr4	88516456	88516456	T	A	intergenic	SPARCL1,DSPP	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	vision/eye phenotype,craniofacial phenotype	-,Dentinogenesis imperfecta type III|Dentinogenesis imperfecta type II|Dentinogenesis imperfecta type I|Dentinogenesis imperfecta Shields type II|Dentin dysplasia type II|Dental disorder, non-syndromic	ICGC,
chr6	153411994	153411994	-	CTATAT	intronic	RGS17	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	-	ICGC,
chr4	175698651	175698651	G	T	intronic	GLRA3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype	-	ICGC,
chr10	107784559	107784559	C	T	intergenic	LOC101927549,SORCS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,other phenotype	-,Autism 	ICGC,
chr1	208234252	208234252	T	C	intronic	PLXNA2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN18714332	-	-	-	-	vision/eye phenotype	Tetralogy of Fallot	COSMIC,
chr2	30227669	30227669	C	A	intergenic	ALK,YPEL5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5791304	-	LINC-JP|1|394|0.00254	-	-	-,-	Medulloblastoma |Neuroblastoma,-	COSMIC,ICGC,
chr1	218248952	218248952	G	A	intergenic	LOC101929631,RRP15	unknown	SNV	-	-	-	0.0001	rs558694958	-	0.000399361	-	-	COSN25554459	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	COSMIC,ICGC,
chr6	29507264	29507264	C	T	intergenic	LINC01015,UBD	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,immune system phenotype	-,Celiac disease, association with	ICGC,
chr3	87020650	87020650	G	A	intronic	VGLL3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr20	41074033	41074033	C	G	intronic	PTPRT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-UK|1|141|0.00709	-	-	homeostasis/metabolism phenotype	Intellectual disability, behavioural problems, microcephaly & cardiac defect|Attention deficit hyperactivity disorder 	ICGC,
chr8	93296969	93296969	T	A	intergenic	RUNX1T1,FLJ46284	unknown	SNV	-	-	-	0.0007	rs371332334	-	0.00119808	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,-	Intellectual disability  ,-	ICGC,
chr7	68168176	68168176	C	G	intergenic	LOC102723427,LOC100507468	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chrX	44761178	44761178	-	A	intronic	KDM6A	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	mortality/aging	Short stature, microcephaly, cleft palate, intellectual disability and seizures|Short stature, low birthweight, hypoglycinaemia|Renal cancer|Psychomotor retardation, growth restriction, seizures and cleft palate|Mental retardation, developmental delay and obesity|Kabuki syndrome|Encephalopathy, epilepsy and developmental disorder|Developmental delay, dysmorphic features, seizures and macrocephaly|Developmental delay and dysmorphic features|Autism spectrum disorder	ICGC,
chr5	54980500	54980500	G	C	intronic	SLC38A9	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21092402	-	BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr7	52820505	52820505	G	A	intergenic	COBL,POM121L12	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|3|183|0.01639	-	-	nervous system phenotype,-	-,-	ICGC,
chr11	6891849	6891849	C	A	exonic	OR10A2	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM3710413	-	ORCA-IN|1|178|0.00562	-	-	nervous system phenotype	-	COSMIC,ICGC,
chr3	41860958	41860958	G	A	exonic	ULK4	nonsynonymous	SNV	0.002	0.998	-	-	-	-	-	-	-	COSM5864508	-	-	-	-	mortality/aging	Multiple sessile serrated adenoma|Multiple myeloma, increased risk	COSMIC,
chr2	192486489	192486489	G	A	intergenic	MYO1B,NABP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr10	57611915	57611915	C	T	intergenic	MTRNR2L5,ZWINT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr7	29211267	29211267	C	T	intronic	CHN2	unknown	SNV	-	-	-	0.0771	rs17157602	-	0.10603	-	0.116	COSN17349625	-	ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488	-	-	cellular phenotype	Carotid intima media thickness, association with	COSMIC,ICGC,
chr10	107082185	107082185	G	A	intergenic	SORCS3,LOC101927549	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	149628815	149628815	A	G	intronic	CAMK2A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	integument phenotype	Schizophrenia  	ICGC,
chr6	153172130	153172130	A	T	intergenic	VIP,FBXO5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	reproductive system phenotype,mortality/aging	Autism spectrum disorder|Pulmonary arterial hypertension, idiopathic, association with ,-	ICGC,
chr7	120197642	120197642	C	T	intronic	KCND2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	integument phenotype	Epilepsy, temporal lobe	ICGC,
chr5	166356224	166356224	A	C	intergenic	CTB-7E3.1,TENM2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr12	14505134	14505134	C	T	intergenic	GRIN2B,ATF7IP	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Mental retardation, behavioural anomalies & abnormal EEG|Potential protein deficiency|Schizophrenia, association with|Schizophrenia, association with.|West syndrome|Mental retardation with behavioural anomalies|Intellectual disability  |Huntington disease, earlier onset in females, association with|Focal epilepsy & intellectual disability|Autism spectrum disorder|Autism|Alzheimer disease, increased risk, association with,-	ICGC,
chr12	13699628	13699628	G	A	intergenic	C12orf36,GRIN2B	unknown	SNV	-	-	-	-	rs770888972	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,mortality/aging	-,Mental retardation, behavioural anomalies & abnormal EEG|Potential protein deficiency|Schizophrenia, association with|Schizophrenia, association with.|West syndrome|Mental retardation with behavioural anomalies|Intellectual disability  |Huntington disease, earlier onset in females, association with|Focal epilepsy & intellectual disability|Autism spectrum disorder|Autism|Alzheimer disease, increased risk, association with	ICGC,
chr2	31290997	31290997	C	T	intronic	GALNT14	unknown	SNV	-	-	-	-	rs765484953	-	-	-	-	-	-	LAML-KR|1|205|0.00488	-	-	-	-	ICGC,
chr5	143240598	143240598	C	T	intergenic	HMHB1,YIPF5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr11	81565996	81565996	A	G	intergenic	LOC101928944,LOC101928989	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr7	18661136	18661136	A	T	intronic	HDAC9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Peters' anomaly |Immunodeficiency, common variable, association with  	ICGC,
chr14	53707406	53707406	G	A	intergenic	LOC101927620,MIR5580	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	ICGC,
chr9	105467163	105467163	G	A	intergenic	LINC00587,CYLC2	unknown	SNV	-	-	-	6.502e-05	-	-	-	-	-	COSN26392457	-	ESAD-UK|1|301|0.00332,PRAD-UK|1|140|0.00714	-	-	-,-	-,Potential protein deficiency	COSMIC,ICGC,
chr1	248557971	248557971	T	G	intergenic	OR2T6,OR2T1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr8	65414437	65414437	A	C	intergenic	MIR124-2HG,LOC401463	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr7	22920294	22920294	-	TTTT	intergenic	SNORD93,FAM126A	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|4|67|0.05970	-	-	-,-	-,Hypomyelination & congenital cataract	ICGC,
chr10	98577527	98577527	C	T	intergenic	PIK3AP1,LCOR	unknown	SNV	-	-	-	6.686e-05	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	hematopoietic system phenotype,-	-,-	ICGC,
chr6	107156943	107156943	T	G	intergenic	QRSL1,LOC100422737	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19145459	-	CLLE-ES|1|510|0.00196	-	-	-,-	-,-	COSMIC,ICGC,
chr16	82377116	82377116	G	A	intergenic	MPHOSPH6,CDH13	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Higher adiponectin levels|Amyotrophic lateral sclerosis 	ICGC,
chrX	94567089	94567089	G	A	intergenic	FAM133A,LOC643486	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr17	31675099	31675099	G	A	intronic	ASIC2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	taste/olfaction phenotype	Dyslexia 	ICGC,
chr1	148953116	148953116	C	A	ncRNA_intronic	NBPF25P	unknown	SNV	-	-	-	0	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-	-	ICGC,
chr8	77611087	77611087	G	A	intronic	ZFHX4	unknown	SNV	-	-	-	3.231e-05	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	Tetralogy of Fallot|Intellectual disability with facial anomalies|Intellectual disability and dysmorphisms|Bilateral isolated ptosis 	ICGC,
chr11	120774413	120774413	C	T	intronic	GRIK4	unknown	SNV	-	-	-	0.0002	rs758000302	-	-	-	-	COSN10079319	-	RECA-EU|1|422|0.00237	-	-	behavior/neurological phenotype	Modulated hippocampal function, association with|Biopolar disorder, protection, association with	COSMIC,ICGC,
chr2	36018731	36018731	T	A	intergenic	NONE,LOC100288911	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6180012	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr4	63261327	63261327	A	T	intergenic	LPHN3-AS1,TECRL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr13	63822738	63822738	C	A	intergenic	LINC00448,LINC00395	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7410759	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	COSMIC,ICGC,
chr3	74742716	74742716	A	C	intergenic	CNTN3,MIR4444-1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7765687	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	COSMIC,ICGC,
chr6	95841486	95841486	C	T	intergenic	TSG1,MANEA-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr3	131962607	131962607	G	A	intergenic	CPNE4,ACPP	unknown	SNV	-	-	-	-	rs552553339	-	0.000199681	-	0.007	COSN1267702	-	-	-	-	-,integument phenotype	-,Potential protein deficiency	COSMIC,
chr7	125706977	125706977	G	A	intergenic	LOC101928283,GRM8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,behavior/neurological phenotype	-,Attention deficit hyperactivity disorder|Autism spectrum disorder  	ICGC,
chrX	50467896	50467896	G	A	intronic	SHROOM4	unknown	SNV	-	-	-	0.0001	rs782423442	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-	Developmental delay, choanal atresia, ventricle septum defect & camptodactyly|Mental retardation, X-linked|Potential protein deficiency	ICGC,
chr21	21215722	21215722	G	A	intergenic	LOC101927797,LINC00320	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	ICGC,
chr6	47622866	47622866	A	G	intergenic	CD2AP,GPR111	unknown	SNV	-	-	-	0.0004	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,mortality/aging	Glomerulosclerosis, focal segmental|Nephrotic syndrome ,-	ICGC,
chr2	198319243	198319243	T	A	intronic	COQ10B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24666800	-	GACA-CN|1|123|0.00813	-	-	-	-	COSMIC,ICGC,
chr5	51269176	51269176	A	G	intergenic	ISL1,PELO	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	integument phenotype,mortality/aging	Cardiomyopathy, dilated|Diabetes, type 2|Intellectual and developmental disabilities,-	ICGC,
chr20	37562883	37562883	T	A	intronic	FAM83D	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr5	156733882	156733882	G	A	intronic	CYFIP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Potential protein deficiency	ICGC,
chr11	76604871	76604873	AAC	-	intronic	ACER3	unknown	deletion	-	-	-	-	-	-	-	-	-	COSN22800114	-	BRCA-UK|1|141|0.00709,BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr4	164728401	164728401	A	G	intronic	MARCH1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7748646	-	PACA-AU|1|391|0.00256	-	-	hematopoietic system phenotype	-	COSMIC,ICGC,
chr1	37843173	37843173	G	A	intergenic	MIR4255,LINC01137	unknown	SNV	-	-	-	0.0146	rs142810497	-	0.0223642	-	-	-	-	LAML-KR|1|205|0.00488	-	-	-,-	-,-	ICGC,
chr3	187148030	187148030	T	A	intergenic	RTP4,SST	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22310845	-	BRCA-EU|1|569|0.00176	-	-	-,immune system phenotype	-,Breast cancer, descreased risk, association with	COSMIC,ICGC,
chr1	3342339	3342339	C	T	intronic	PRDM16	unknown	SNV	-	-	8.24e-06	-	-	-	-	-	-	COSN140088	-	-	-	-	mortality/aging	1p36 deletion syndrome associated cardiomyopathy|Cardiomyopathy, dilated|Left ventricular noncompaction  	COSMIC,
chrX	703526	703526	A	T	intergenic	SHOX,CRLF2	unknown	SNV	-	-	-	4.154e-05	-	-	-	-	-	COSN23894494	-	LAML-KR|1|205|0.00488	-	-	-,mortality/aging	Tall stature |Short stature, mental retardation & facial dysmorphisms|Short stature without Madelung deformity|Short stature|Multiple congenital anomalies, skeletal|Mayer-Rokitansky-Küster-Hauser syndrome I|Madelung deformity|Leri-Weill dyschondrosteosis with short stature|Leri-Weill dyschondrosteosis|Langer mesomelic dysplasia|Dyschondrosteosis,-	COSMIC,ICGC,
chr4	67615014	67615014	G	A	intergenic	EPHA5-AS1,LOC101927237	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr20	62826753	62826753	-	ACTTTTTT	intronic	MYT1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	mortality/aging	Mental retardation	ICGC,
chr5	84826037	84826037	T	C	intergenic	EDIL3,NBPF22P	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6929881	-	LIRI-JP|1|258|0.00388	-	-	immune system phenotype,-	Schizophrenia  ,-	COSMIC,ICGC,
chr8	31910425	31910425	C	G	ncRNA_intronic	NRG1-IT1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9631282	-	OV-AU|1|93|0.01075	-	-	-	-	COSMIC,COSMIC,ICGC,
chr8	56191478	56191478	G	A	intronic	XKR4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	Glaucoma, primary congenital	ICGC,
chr11	70787213	70787213	C	T	intronic	SHANK2	unknown	SNV	-	-	-	0.2648	rs11238038	-	0.328874	-	0.362	-	-	ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488	-	-	mortality/aging	Autism|Autism spectrum disorder |Intellectual disability and language impairment|Mental retardation |Mental retardation, speech / developmental delay & facial features	ICGC,
chr2	79162740	79162740	A	G	intergenic	LOC101927967,REG3G	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr12	11528570	11528570	C	T	intergenic	PRB1,PRB2	unknown	SNV	-	-	-	0.0425	rs113606442	-	0.0453275	-	0.014	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	Proline-rich protein PRB1 deficiency,-	ICGC,
chr11	89166763	89166763	T	G	intronic	NOX4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25144798	-	MALY-DE|1|241|0.00415	-	-	mortality/aging	-	COSMIC,ICGC,
chr8	132832906	132832906	A	T	intergenic	ADCY8,EFR3A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5108971	-	LINC-JP|1|394|0.00254	-	-	integument phenotype,-	Myocardial infarction  ,Autism|Potential protein deficiency	COSMIC,ICGC,
chr15	87577782	87577782	A	T	intergenic	AGBL1,LINC00052	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	Fuchs corneal dystrophy, late-onset ,-	ICGC,
chr20	2282369	2282369	C	T	intronic	TGM3	unknown	SNV	-	-	-	3.37e-05	-	-	-	-	-	COSN7997739	-	PACA-CA|1|268|0.00373	-	-	integument phenotype	Basal cell carcinoma, increased risk, association with|Basal cell carcinoma, reduced risk, association with	COSMIC,ICGC,
chr2	130592029	130592031	AAA	-	intergenic	LOC151121,LOC389033	unknown	deletion	-	-	-	-	rs745455987	-	-	-	-	COSN19323066	-	-	-	-	-,-	-,-	COSMIC,
chr17	75112207	75112207	G	T	intronic	SEC14L1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-	-	ICGC,
chr4	155650223	155650224	CG	-	intergenic	FGG,LRAT	unknown	deletion	-	-	-	9.843e-05	rs147239830	-	-	-	-	-	-	BTCA-SG|1|71|0.01408,PRAD-CA|2|308|0.00649	-	-	mortality/aging,vision/eye phenotype	Menorrhagia|Hypofibrinogenaemia with hepatic storage|Hypofibrinogenaemia|Hypodysfibrinogenaemia|Fibrinogen variant|Epistaxis, recurrent|Dysfibrinogenaemia|Deep venous thrombosis, increased risk, association with|Afibrinogenaemia / hypofibrinogenaemia|Afibrinogenaemia,Usher syndrome |Retinitis punctata albescens|Retinitis pigmentosa |Retinal dystrophy, early-onset severe|Retinal dystrophy, early-onset|Leber congenital amaurosis	ICGC,
chr20	43066190	43066190	C	T	intergenic	HNF4A,LINC01430	unknown	SNV	-	-	-	3.232e-05	-	-	-	-	-	COSN22153787	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging,-	Diabetes, type 2, association with|Fanconi syndrome with nephrocalcinosis|Hypercholesterolaemia ?|Hypoglycaemia, hyperinsulinaemic|Reduced expression|Diabetes, MODY1|Diabetes, MODY|Altered micro-RNA binding|Crohn's disease, childhood onset, association with|Diabetes  |Diabetes mellitus, type 2 |Diabetes, childhood-onset.,-	COSMIC,ICGC,
chr16	13495495	13495495	G	A	intergenic	SHISA9,ERCC4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BOCA-UK|1|130|0.00769	-	-	-,mortality/aging	-,Xeroderma pigmentosum (F)|Progeroid syndrome|Potential protein deficiency|Lung cancer, susceptibility to|Fanconi anaemia|Combined xeroderma pigmentosum, cockayne syndrome and fanconi anaemia|Cockayne syndrome|Breast cancer  |Breast and/or ovarian cancer|Bladder cancer, increased risk, association with	ICGC,
chr18	35352712	35352712	G	T	intergenic	MIR4318,LINC00669	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15789968	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr8	31274628	31274628	-	GCACACACAC	intergenic	WRN,NRG1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	integument phenotype,integument phenotype	Werner syndrome|Thromboembolic disease, association with|Schizophrenia|Sarcomas, association with|Reduced enzyme activity|Partial lipodystrophy with insulin resistance & adult progeria Werner syndrome|Non-hodgkin lymphoma, association with|Lung cancer|Coronary stenosis, reduced risk, association with|Breast cancer, association with|Breast cancer risk in radiographers, association with,Sudden cardiac death, association with|Schizophrenia, association with  |Schizophrenia in African Americans, association with|Prepulse inhibition, association with|Perceptual aberration of schizotypal personality, association with|Increased lateral ventricle volume in schizophrenia|Hirschsprung disease|Developmental delay, hypotonia & microcephaly|Alzheimers disease, association with	ICGC,
chrX	12374638	12374638	A	G	intronic	FRMPD4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Mental retardation, X-linked	ICGC,
chr7	150057843	150057843	C	T	intergenic	RARRES2,RNU6-33P	unknown	SNV	-	-	-	0.2183	rs36035506	-	0.216653	-	0.254	-	-	LAML-KR|1|205|0.00488	-	-	-,-	-,-	ICGC,
chr16	88878875	88878875	C	T	upstream	APRT	unknown	SNV	-	-	-	6.47e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Adenine phosphoribosyltransferase deficiency	ICGC,
chr18	63341550	63341551	TA	-	intergenic	LOC284294,CDH7	unknown	deletion	-	-	-	0.0176	rs111444877	-	-	-	-	COSN24878974	-	PBCA-DE|5|499|0.01002	-	-	-,-	-,-	COSMIC,COSMIC,ICGC,
chr8	56242820	56242820	G	T	intronic	XKR4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	Glaucoma, primary congenital	ICGC,
chrX	65521703	65521703	G	A	intergenic	HEPH,EDA2R	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	hematopoietic system phenotype,normal phenotype	-,Hypohidrotic ectodermal dysplasia|Mental retardation, X-linked 	ICGC,
chr2	225378963	225378963	T	C	intronic	CUL3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19596875	-	-	-	-	mortality/aging	Schizophrenia|Pseudohypoaldosteronism type II|Hyperkalaemic hypertension.|Hyperkalaemic hypertension|Congenital heart disease |Autism	COSMIC,
chr9	75261814	75261814	C	T	intronic	TMC1	unknown	SNV	-	-	-	0.4980	rs7023171	-	0.490615	-	0.333	COSN14833005	-	-	-	-	integument phenotype	Nonsyndromic deafness, autosomal recessive|Hearing loss.|Hearing loss, nonsyndromic, autosomal recessive|Hearing loss|DFNB7/B11 deafness|DFNA36 hearing loss, association with|Deafness, non-syndromic, autosomal recessive|Deafness, non-syndromic, autosomal dominant|Deafness, non-syndromic |Deafness	COSMIC,
chr4	162691519	162691519	-	A	intronic	FSTL5	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PACA-AU|1|391|0.00256	-	-	-	Schizophrenia  |Rolandic epilepsy 	ICGC,
chr5	29607617	29607617	G	A	intergenic	LOC101929681,CDH6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,renal/urinary system phenotype	-,-	ICGC,
chr4	158427237	158427237	C	A	intergenic	GRIA2,LOC340017	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	integument phenotype,-	Intellectual disability  ,-	ICGC,
chr1	17835286	17835286	C	T	intergenic	RCC2,ARHGEF10L	unknown	SNV	-	-	-	0.0002	rs569572961	-	0.000199681	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr6	76200601	76200601	C	A	intronic	FILIP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-	Schizophrenia  	ICGC,
chrX	135171514	135171514	-	TACACA	intergenic	SLC9A6,FHL1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|6|67|0.08955	-	-	behavior/neurological phenotype,other phenotype	Potential protein deficiency|Mental retardation, X-linked, Christianson type|Mental retardation, X-linked|Intellectual disability, X-linked|Intellectual disability, micropcephaly, epilepsy & ataxic gait|Impaired posttranslational processing and trafficking.|Christianson syndrome and retinitis pigmentosa|Christianson syndrome   ,Rigid spine muscular dystrophy   |Scapuloperoneal myopathy|Spongious hypertrophic cardiomyopathy|X-linked myopathy with hypertrophic cardiomyopathy|X-linked myopathy with postural muscle atrophy|Reducing body myopathy|Myofibrillar myopathy|Cardiomyopathy, hypertrophic|Cardiomyopathy, hypertrophic, with muscle hypertrophy|Hypertrophy, left ventricular|Muscular dystrophy, Emery-Dreifuss|Muscular dystrophy, Emery-Dreifuss plus	ICGC,
chr8	16927132	16927132	G	T	intronic	MICU3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr20	14675304	14675304	G	T	intronic	MACROD2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27634139	-	NKTL-SG|1|50|0.02000	-	-	-	Kabuki syndrome|Attention deficit hyperactivity disorder 	COSMIC,ICGC,
chr18	31571108	31571108	G	A	intronic	NOL4	unknown	SNV	-	-	-	3.241e-05	-	-	-	-	-	-	-	MELA-AU|3|183|0.01639	-	-	-	-	ICGC,
chr15	100662307	100662307	A	G	intronic	ADAMTS17	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Weill-Marchesani-like syndrome|Spherophakia with short stature|Short stature|Schizophrenia  	ICGC,
chr10	45204820	45204820	C	T	intergenic	CXCL12,TMEM72-AS1	unknown	SNV	-	-	-	3.233e-05	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,-	Increased susceptibility to HIV type 1 infection|HIV-1 disease progression, association with|Disease progression in HIV, association with.|Delayed onset of AIDS, association with|Coronary artery disease, susceptibility to|Chronic myeloproliferative disease, association with,-	ICGC,
chr4	157239421	157239421	A	C	intergenic	CTSO,PDGFC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Ovarian cancer, poor survival, association with|Cleft lip with or without cleft palate, association|Bilateral cleft lip & thumb polydactyly	ICGC,
chr3	52207422	52207422	G	A	intergenic	POC1A,ALAS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	Short stature, onychodysplasia, facial dysmorphism & hypotrichosis syndrome|Primordial dwarfism,Schizophrenia	ICGC,
chr11	61598411	61598411	C	T	intronic	FADS2	unknown	SNV	-	-	-	-	rs182982765	-	0.000399361	-	-	-	-	MALY-DE|1|241|0.00415	-	-	integument phenotype	Schizophrenia|Increased expression|Higher D6D activity|Decreased promoter activity	ICGC,
chr22	23495651	23495651	C	T	intronic	RAB36	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20762515	-	BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr8	121309882	121309882	G	A	intronic	COL14A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Keratoderma, palmoplantar, punctate	ICGC,
chr19	13060211	13060211	C	T	exonic	RAD23A	stopgain	SNV	-	-	-	-	-	-	-	-	-	-	BLCA|1|396|0.00253	-	-	-	mortality/aging	-	TCGA,
chr2	215483963	215483963	G	A	intergenic	VWC2L,BARD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Tetralogy of Fallot|Schizophrenia, association with|Ovarian cancer|Neuroblastoma|Lung cancer, susceptibility to, association with|Fallopian tube carcinoma|Breast cancer, reduced risk, association with|Breast cancer, increased risk  |Breast cancer, association with|Breast cancer|Breast and/or ovarian cancer	ICGC,
chr19	16447939	16447939	T	A	intergenic	KLF2,EPS15L1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	mortality/aging,-	-,-	ICGC,
chr2	211913143	211913143	G	A	intergenic	CPS1,ERBB4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	mortality/aging,integument phenotype	VACTERL |Neonatal pulmonary hypertension, association with|Necrotizing enterocolitis, in preterm infants, association with|Hyperammonaemia, association with|Carbamoyl phosphate synthetase I deficiency|Altered Nitric oxide production and vascular smooth muscle reactivity|Altered glycine metabolism,Schizophrenia |Oligohydramnios|Intellectual disability, hyperactivity & speech developmental delay|Increased promoter activity|Hepatocellular carcinoma, increased risk, association with|Epileptic encephalopathy, early infantile 3|Breast and colorectal cancer, association with|Bipolar disorder, association with |Bipolar disorder |Autism spectrum disorder  |Amyotrophic lateral sclerosis type 19	ICGC,
chr4	25992091	25992091	-	AGTGTG	intergenic	SMIM20,RBPJ	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,integument phenotype	-,Adams-Oliver syndrome|Proximal 4p deletion syndrome and epilepsy	ICGC,
chr3	147975040	147975040	T	C	intergenic	LOC440982,AGTR1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,Hypertrophic cardiomyopathy, association with|Increased left ventricular mass, association with|Myocardial infarction, acute, association with|Potential protein deficiency|Preeclampsia, association with|Reduced function|Renal tubular dysgenesis|Right coronary artery in STEM1, association with|Severe chronic periodontitis, association with|Hypertension, association with.|Hypertension, association with|Friedreich ataxia, modifier of|Acromegaly, association with|Atrial fibrillation, association with|Benign prostatic hyperplasia, association with|Blood pressure variation in response to potassium, association with|Body mass index, association with|Breast cancer, reduced risk|Carotid intima-media thickness, association with|Chronic kidney disease, association with|Diastolic heart failure, increased risk, association with	ICGC,
chr2	99395056	99395056	C	A	intergenic	MGAT4A,KIAA1211L	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	cellular phenotype,-	-,Schizophrenia    	ICGC,
chrX	80278839	80278839	A	C	intergenic	BRWD3,HMGN5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	UTCA-FR|1|20|0.05000	-	-	craniofacial phenotype,no phenotypic analysis	Rolandic epilepsy |Potential protein deficiency|Mental retardation, X-linked|Intellectual disability & macrocephaly,-	ICGC,
chr2	195661174	195661174	C	T	intergenic	LOC101927431,SLC39A10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr8	26886129	26886129	-	T	intergenic	ADRA1A,STMN4	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging,-	Increased receptor signalling|Hypertension, association with |Decreased binding affinity|Complex regional pain syndrome, association with|Altered antagonist binding,-	ICGC,
chr7	153053068	153053068	A	G	intergenic	ACTR3B,DPP6	unknown	SNV	-	-	-	0.0005	rs189365549	-	0.000798722	-	-	-	-	LAML-KR|1|205|0.00488	-	-	-,nervous system phenotype	-,Autism spectrum disorder  |Schizophrenia  |Ventricular fibrillation, idiopathic 	ICGC,
chr6	154510255	154510255	G	A	intronic	IPCEF1,OPRM1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,integument phenotype	-,Striatal dopamine response to alcohol|Post-operative pain response, association with|Pressure pain sensitivity in females, association with|Proinflammatory cytokine levels and health perception, association with|Reduced agonist potency|Reduced agonist potency, association with|Reduced expression|Reduced promoter activity|Smoking behaviour, increased susceptibility|Pain perception, association with|Increased promoter activity|Impaired receptor signalling|Addiction, association with|Altered beta-endorphin binding, association with|Altered reinforcement learning, association with|Altered trafficking and/or signalling|Decreased body mass index, association with|Decreased receptor expression|Drug intake, association with |Epilepsy|Epilepsy, association with 	ICGC,
chr5	41594908	41594908	C	T	intergenic	PLCXD3,OXCT1	unknown	SNV	-	-	-	6.524e-05	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-,mortality/aging	-,3-oxoacid CoA transferase deficiency|Complex I deficiency	ICGC,
chr6	97776813	97776813	G	A	ncRNA_intronic	LOC101927314,MIR548H3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr11	37957112	37957112	T	A	intergenic	C11orf74,LOC103312105	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19586014	-	-	-	-	-,-	-,-	COSMIC,
chr16	73417529	73417529	G	A	intergenic	C16orf47,LOC100506172	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|3|183|0.01639	-	-	-,-	-,-	ICGC,
chr13	24606799	24606799	G	A	intronic	SPATA13	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Autism	ICGC,
chr11	16563562	16563562	G	A	intergenic	SOX6,C11orf58	unknown	SNV	-	-	-	0.2229	rs10832640	-	0.342053	-	0.043	-	-	LAML-KR|1|205|0.00488	-	-	mortality/aging,-	Craniosynostosis |Developmental delay and spinal syrinx,-	ICGC,
chr8	118244542	118244542	T	C	intergenic	SLC30A8,MED30	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	vision/eye phenotype,mortality/aging	Reduced enhancer activity|Potential protein deficiency|Increased insulin clearance|Higher proinsulin levels, association with|Diabetes, type 2, protection against |Diabetes, type 2, association with|Autoantibody specificity in T1D, association with|Autoantibody specificity in T1D,-	ICGC,
chr6	156617574	156617574	G	A	intergenic	NOX3,ARID1B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,-	-,Schizophrenia|Nicolaides-Baraitser syndrome|Intellectual disability, plantar fat pads & facial dysmorphism|Intellectual disability, corpus callosum abnormalities, speech impairment & autism|Intellectual disability & speech impairment|Intellectual disability & agenesis of corpus callossum|Intellectual disability  |Developmental delay, dysmorphic features, dysgenesis of the corpus callosum, limb anomalies & genital hypoplasia|Coffin-Siris syndrome|Autism?|Autism spectrum disorder|Autism	ICGC,
chr20	18022126	18022126	G	T	intronic	OVOL2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	mortality/aging	-	ICGC,
chr4	177588434	177588434	G	A	intergenic	SPCS3,VEGFC	unknown	SNV	-	-	-	-	rs532061341	-	0.000199681	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,mortality/aging	-,Lymphoedema, primary, Milroy-like	ICGC,
chr3	48096678	48096678	C	G	intronic	MAP4	unknown	SNV	-	-	-	0.0080	rs111286639	-	0.605431	-	0.072	COSN27897616	-	-	-	-	normal phenotype	Autism spectrum disorder	COSMIC,
chr8	54252330	54252330	A	C	intergenic	OPRK1,ATP6V1H	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	integument phenotype,-	Alcohol dependence, association with|Opiate addiction, association with ,Schizophrenia  	ICGC,
chr14	82134475	82134475	G	A	intergenic	LOC101928559,NONE	unknown	SNV	-	-	-	-	rs192160562	-	0.000199681	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	34184364	34184364	A	G	intergenic	MYADML,NONE	unknown	SNV	-	-	-	0.0554	rs79614513	-	0.0646965	-	0.043	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr14	49621944	49621944	-	AT	intergenic	LINC00648,RPS29	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr2	145155282	145155282	A	T	intronic	ZEB2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7345018	-	PACA-AU|1|391|0.00256	-	-	mortality/aging	Mowat-Wilson syndrome with cholestasis and biliary atresia|Mowat-Wilson syndrome with asplenia|Mowat-Wilson syndrome|Hirschsprung disease, modifier of|Hirschsprung disease-structural eye anomalies|Hirschsprung disease-mental retardation syndrome|Brain malformations 	COSMIC,ICGC,
chr1	67936455	67936458	CTAA	-	intergenic	SERBP1,GADD45A	unknown	deletion	-	-	-	0.0001	rs773980976	-	-	-	-	COSN25557260	-	MALY-DE|1|241|0.00415	-	-	-,integument phenotype	-,-	COSMIC,ICGC,
chr7	2488775	2488775	C	A	intergenic	LOC101927181,GRIFIN	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27157730	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr5	5375692	5375692	-	TG	intergenic	ADAMTS16,ICE1	unknown	insertion	-	-	-	0.2826	rs113838942	-	-	-	-	COSN27412851	-	-	-	-	-,-	Increased systolic blood pressure, association with,-	COSMIC,
chr1	227507506	227507506	-	TTTGGA	intergenic	CDC42BPA,ZNF678	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr1	38222158	38222158	-	TTCAG	intronic	EPHA10	unknown	insertion	-	-	-	-	rs772587138	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr9	66301378	66301378	T	A	intergenic	SPATA31A5,LINC01410	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8334260	-	-	-	-	-,-	-,-	COSMIC,
chr1	214915878	214915878	G	A	intergenic	CENPF,KCNK2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	UTCA-FR|1|20|0.05000	-	-	-,mortality/aging	-,-	ICGC,
chr1	114743052	114743052	-	A	intergenic	SYT6,TRIM33	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	normal phenotype,mortality/aging	-,-	ICGC,
chr4	104790196	104790196	T	A	intergenic	TACR3,CXXC4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9582723	-	OV-AU|1|93|0.01075	-	-	behavior/neurological phenotype,-	Kallmann syndrome|Hypogonadotropic hypogonadism,-	COSMIC,ICGC,
chr5	59371551	59371551	T	C	intronic	PDE4D	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	EOPC-DE|1|202|0.00495	-	-	mortality/aging	Psychomotor retardation, coarse facies & ocular anomalies|Intellectual disability syndrome with low body mass index & facial features|Acrodysostosis	ICGC,
chrX	138774265	138774265	G	A	intronic	MCF2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GBM-US|1|276|0.00362	-	-	reproductive system phenotype	Autism spectrum disorder	ICGC,
chr1	188816119	188816119	C	G	intergenic	PLA2G4A,BRINP3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN14547979	-	PACA-AU|1|391|0.00256	-	-	mortality/aging,-	Asthma, association with|Cryptogenic multifocal ulcerating stenosing enteritis|Increased enzyme activity|Prostanoid biosynthesis deficiency,-	COSMIC,ICGC,
chr12	52491926	52491926	G	A	ncRNA_intronic	OR7E47P	unknown	SNV	-	-	-	0.0031	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr5	137629482	137629482	C	G	intronic	CDC25C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	mortality/aging	Colorectal cancer, age of onset, association with	ICGC,
chr2	41394810	41394810	T	A	intergenic	SLC8A1,LOC388942	unknown	SNV	-	-	-	6.465e-05	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332,MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Colorectal cancer, increased risk, association with |Schizophrenia  ,-	ICGC,
chr5	71755808	71755808	G	A	intronic	ZNF366	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23092442	-	MALY-DE|1|241|0.00415	-	-	-	-	COSMIC,ICGC,
chr5	66356675	66356675	C	T	intronic	MAST4	unknown	SNV	-	-	-	0.0024	rs184883296	-	0.00419329	-	0.007	-	-	BRCA-EU|1|569|0.00176	-	-	-	Potential protein deficiency	ICGC,
chr7	154025236	154025236	G	T	intronic	DPP6	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24133529	-	BRCA-FR|1|72|0.01389	-	-	nervous system phenotype	Autism spectrum disorder  |Schizophrenia  |Ventricular fibrillation, idiopathic 	COSMIC,ICGC,
chr8	131596179	131596179	C	T	intergenic	ASAP1,ADCY8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	Schizophrenia,Myocardial infarction  	ICGC,
chr16	20529553	20529553	C	T	intergenic	ACSM2A,ACSM2B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Metabolic syndrome, association with|Altered triglyceride level	ICGC,
chr13	48010986	48010986	T	G	intergenic	HTR2A,SUCLA2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	skeleton phenotype,-	Bipolar I disorder, association with|Consolidation of episodic memory, association|Diminished hippocampal novelty processing, association with|Reduced sensitivity to clozapine, association with|Schizophrenia|Schizophrenia, association with|Suicidal behavior, association with|Systemic sclerosis, association with|Autism, association with|Attention deficit hyperactivity disorder, association with.|Affinity for and potency of atypical antipsychotic drugs, association|Age of onset, in temporal lobe epilepsy, association with.|Alcohol dependence and addiction, association with|Altered affinity for atypical antipsychotic drugs|Altered mRNA expression|Altered potency of atypical antipsychotic drugs|Altered splicing  |Anorexia nervosa, association with,Autism|Encephalomyopathic mitochondrial DNA depletion & methylmalonic aciduria|Encephalomyopathy & mitochondrial DNA depletion|Muscle hypotonia, dystonia, failure to thrive, sensorineural deafness, and dysmorphism|Schizophrenia  	ICGC,
chr22	19035894	19035894	G	T	intronic	DGCR2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	no phenotypic analysis	Schizophrenia 	ICGC,
chr22	34929539	34929539	C	T	intergenic	LARGE,ISX	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,no phenotypic analysis	Alpha-dystroglycanopathy |Autism, non-complex|Fukushima congenital muscular dystrophy|Muscular dystrophy, congenital 1D|Walker-Warburg syndrome|Walker-Warburg syndrome.,-	ICGC,
chr3	112959670	112959670	A	G	intronic	BOC	unknown	SNV	-	-	-	3.234e-05	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging	-	ICGC,
chr20	55572694	55572694	C	T	intergenic	TFAP2C,BMP7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,integument phenotype	-,Hypospadias|Eye / skeletal anomalies	ICGC,
chr5	138003732	138003732	-	GGAA	intergenic	HSPA9,CTNNA1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|4|67|0.05970	-	-	-,integument phenotype	Parkinson disease ,Gastric cancer, diffuse 	ICGC,
chr14	86620614	86620614	T	C	intergenic	LOC101928767,LOC283585	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN4759992	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	COSMIC,ICGC,
chr5	60722681	60722681	C	G	intronic	ZSWIM6	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23815266	-	ORCA-IN|1|178|0.00562	-	-	-	-	COSMIC,ICGC,
chr1	85529097	85529097	T	A	intronic	WDR63	unknown	SNV	-	-	-	0.4779	rs12062414	-	0.430511	-	0.370	-	-	LAML-KR|1|205|0.00488	-	-	-	-	ICGC,
chrX	150762081	150762081	G	T	intronic	PASD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-	-	ICGC,
chr12	48732534	48732534	A	G	intergenic	H1FNT,ZNF641	unknown	SNV	-	-	-	0.6159	rs2634683	-	0.499002	-	0.630	-	-	ESAD-UK|1|301|0.00332	-	-	reproductive system phenotype,-	-,-	ICGC,
chrX	78209214	78209214	C	T	intronic	P2RY10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr3	66836235	66836235	C	T	intergenic	LRIG1,KBTBD8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype,-	-,-	ICGC,
chr18	33130463	33130463	C	A	intergenic	INO80C,MIR3975	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr1	201631190	201631190	C	T	intronic	NAV1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	Autism spectrum disorder	ICGC,
chr22	44939072	44939072	C	G	intergenic	LDOC1L,LINC00207	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22396856	-	BRCA-UK|1|141|0.00709,BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr12	80805283	80805283	C	T	intergenic	OTOGL,PTPRQ	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,behavior/neurological phenotype	Sensorineural hearing loss  |Deafness  |Autism spectrum disorder,Deafness, non-syndromic |Hearing loss  |Nonsyndromic hearing impairment DFNB84	ICGC,
chr11	62400140	62400140	G	A	exonic	GANAB	nonsynonymous	SNV	0.0	1.0	-	-	-	-	-	-	-	COSM4034831	-	STAD-US|1|289|0.00346	-	-	-	-	COSMIC,COSMIC,ICGC,
chr4	157941715	157941715	G	A	intergenic	PDGFC,GLRB	unknown	SNV	-	-	-	-	rs188158268	-	0.000199681	-	0.007	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,mortality/aging	Ovarian cancer, poor survival, association with|Cleft lip with or without cleft palate, association|Bilateral cleft lip & thumb polydactyly,Hyperekplexia|Intellectual and developmental disabilities	ICGC,
chr6	88804971	88804971	A	G	intergenic	SPACA1,CNR1	unknown	SNV	-	-	-	-	rs202118815	-	-	-	-	COSN1338060	-	LINC-JP|1|394|0.00254	-	-	reproductive system phenotype,integument phenotype	-,Ulcerative colitis, reduced risk, association with|Sweet taste threshold, association with|Schizophrenia, hebephrenic, association with|Procedural learning, higher performance, association with|Post-traumatic stress disorder, association with.|Neuroticism, association with|IV drug dependence, susceptibility to, association|Increased waist circumference in obese men, association|Impulsive behaviour, association with|Huntington disease, age at onset, association with|Abdominal adiposity in obese men, association with |Altered function|Altered HDL cholesterol levels|Anorexia and bulimia nervosa, association with|Anorexia nervosa, binging/purging, association|Autism spectrum disorder|Cocaine dependence, association with|Colorectal cancer outcome	COSMIC,ICGC,
chr10	131409995	131409995	G	A	intronic	MGMT	unknown	SNV	-	-	-	3.232e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	MGMT methylation in malignant pleural mesothelioma, association with|Non-Hodgkin lymphoma, increased risk|Pancreatic cancer, increased risk, association with|Promoter methylation and longer survival in glioblastoma patients, association with|Promoter methylation in colorectal cancer |MGMT methylation in lung cancer, increased risk, association with|MGMT methylation in colorectal cancer, association with|Lung cancer, risk, association with|Glioblastoma, reduced risk, association with |Endometrial cancer risk, association with|Cervical carcinoma, increased risk, association with|Cancer, increased risk|Altered enzyme activity	ICGC,
chr10	130476034	130476034	G	A	intergenic	LINC01163,MGMT	unknown	SNV	-	-	-	0.3846	rs982287	-	0.432508	-	0.406	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,MGMT methylation in malignant pleural mesothelioma, association with|Non-Hodgkin lymphoma, increased risk|Pancreatic cancer, increased risk, association with|Promoter methylation and longer survival in glioblastoma patients, association with|Promoter methylation in colorectal cancer |MGMT methylation in lung cancer, increased risk, association with|MGMT methylation in colorectal cancer, association with|Lung cancer, risk, association with|Glioblastoma, reduced risk, association with |Endometrial cancer risk, association with|Cervical carcinoma, increased risk, association with|Cancer, increased risk|Altered enzyme activity	ICGC,
chr5	104229365	104229365	G	A	intergenic	NUDT12,RAB9BP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr13	71689275	71689275	G	A	ncRNA_intronic	LINC00348	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chrX	26059650	26059650	G	T	intergenic	ARX,MAGEB18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,-	Infantile spasms & intellectual disability|Intellectual disability & dystonia|Intellectual disability, X-linked|Lissencephaly, X-linked, with abnormal genitalia|Mental retardation|Mental retardation and epilepsy|Neurodegeneration   |Neurodegeneration with Ohtahara syndrome and mov disord|Ohtahara syndrome|Ohtahara syndrome with developmental delay|Partington syndrome|Infantile spasm syndrome, X-linked|Generalized dystonia without infantile spasms|ACC, epilepsy, abnormal genitalia|ACC, infantile spasms & abnormal genitalia|ACC, lissencephaly, seizures & genital hypoplasia|ACC, mental retardation, epilepsy & dyskinetic quadriparesis|Asymmetric polymicrogyria & periventricular nodular heterotopia|Autism spectrum disorder|Developmental delay and early hand preference.|Epilepsy, early-onset|Epilepsy, early-onset.|Epileptic encephalopathy, early infantile|Epileptic encephalopathy, early onset,-	ICGC,
chr6	49395881	49395881	T	-	intergenic	PTCHD4,MUT	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,mortality/aging	-,Methylmalonic aciduria	ICGC,
chr17	47039024	47039024	G	A	intronic	GIP	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Increased bioactivity	ICGC,
chr5	162268607	162268607	C	T	intergenic	GABRG2,CCNG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,mortality/aging	Seizures, generalized tonic-clonic|Myoclonic epilepsy of infancy |Generalized epilepsy with febrile seizures plus|Febrile seizures|Epilepsy, susceptibility to|Epilepsy, idiopathic generalised  |Epilepsy, childhood absence with febrile seizures|Dravet syndrome,-	ICGC,
chr15	44337751	44337751	A	G	intronic	FRMD5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chrX	32315123	32315123	G	A	intronic	DMD	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Muscular dystrophy, Duchenne & Charcot-Marie-Tooth disease|Muscular dystrophy, Duchenne & autism|Muscular dystrophy, Duchenne|Muscular dystrophy, Becker.|Muscular dystrophy, Becker with cognitive impairment|Muscular dystrophy, Becker|Muscular dystrophy, Duchenne-like|Muscular dystrophy, Duchenne, epilepsy, macroglossia and mental retardation|Muscular dystrophy, Duchenne.|Muscular dystrophy, Duchenne/Becker|Muscular dystrophy, intermediate|Myopathy  |Potential protein deficiency|Schizophrenia|Muscular dystrophy, atypical|Muscular dystrophy & intellectual disability|Muscular dystrophy|Autism & neuromotor delay|Autism spectrum disorder|Behavioural issues|Cardiomyopathy, dilated|Cardiomyopathy, dilated, X-linked|Cardiomyopathy, dilated.|Dystrophinopathy|Elevated creatine kinase level|Mild Becker muscular dystrophy|Mental retardation, X-linked|Isolated cardiomyopathy|Increased serum creatine kinase levels|Global developmental delay/intellectual disability|Exertional myalgia, muscle stiffness & myoglobinuria	ICGC,
chr7	155073164	155073164	C	T	intergenic	HTR5A,INSIG1	unknown	SNV	-	-	-	3.23e-05	rs746927613	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,mortality/aging	Autism, association with|Schizophrenia, association with,Higher plasma triglyceride level, association	ICGC,
chr5	20387990	20387990	G	A	intronic	CDH18	unknown	SNV	-	-	-	0.0023	rs567587832	-	0.00259585	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Anorectal malformation	ICGC,
chrX	16198287	16198287	G	A	intergenic	MAGEB17,CTPS2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,normal phenotype	-,-	ICGC,
chr4	33939205	33939205	T	C	intergenic	NONE,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17736837	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr5	89757166	89757166	C	A	exonic	MBLAC2	nonsynonymous	SNV	0.031	0.372	-	-	-	-	-	-	-	-	LUAD|1|543|0.00184	-	-	-	-	-	TCGA,
chr17	52671788	52671788	C	T	intergenic	KIF2B,TOM1L1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr6	28116494	28116494	A	G	exonic	ZKSCAN8	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM6106071	LUAD|1|543|0.00184	-	-	-	-	-	COSMIC,COSMIC,TCGA,
chrX	85059372	85059372	G	A	intergenic	POF1B,CHM	unknown	SNV	-	-	-	4.643e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	normal phenotype,mortality/aging	Premature ovarian failure, association with,Choroideraemia|Potential protein deficiency	ICGC,
chr5	128582992	128582992	-	A	intergenic	ISOC1,MIR4460	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN14747933	-	-	-	-	-,-	-,-	COSMIC,
chr3	145016167	145016167	T	C	intergenic	C3orf58,PLOD2	unknown	SNV	-	-	-	6.459e-05	rs576500963	-	0.000199681	-	-	COSN27090003	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,Bruck syndrome	COSMIC,ICGC,
chr9	127722198	127722198	T	C	intronic	SCAI	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr2	1061853	1061853	T	A	intronic	SNTG2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	Autism spectrum disorder  |Schizophrenia  	ICGC,
chr3	189236989	189236989	A	G	intergenic	TPRG1,TP63	unknown	SNV	-	-	-	0.0274	rs61683041	-	0.0710863	-	0.029	-	-	LAML-KR|1|205|0.00488	-	-	-,integument phenotype	-,EECUT plus syndrome|Limb-mammary syndrome|Lung adenocarcinoma, susceptibility to, association with|Rapp-Hodgkin syndrome|Rapp-Hodgkin/AEC/ADULT syndrome|Split hand-split foot malformation with amelogenesis imperfecta|Split-hand/split-foot and anorectal malformations.|Split-hand/split-foot malformation|EEC syndrome without clefting|EEC syndrome with linear and whorled naevoid hypermelanosis|ADULT syndrome|ADULT syndrome with cleft palate|AEC / Rapp-Hodgkin syndrome|AEC syndrome|Cleft lip, non-syndromic|Cleft palate, hypohidrosis and oligodontia|Ectrodactyly, ectodermal dysplasia, & clefting/Ectrodactyly-ectoderm. dyspl./Ectoderm. dyspl./Split hand-foot malf. type 4.|EEC syndrome	ICGC,
chr3	192185864	192185864	C	T	intronic	FGF12	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	-	ICGC,
chr13	62861837	62861837	C	A	intergenic	LINC00358,LINC00448	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr4	12270801	12270801	-	AGGA	intergenic	HS3ST1,RAB28	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN27401378	-	-	-	-	mortality/aging,-	-,Breast cancer risk, association with |Cone-rod dystrophy, autosomal recessive	COSMIC,
chr7	49854579	49854579	G	A	intronic	VWC2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr12	65958919	65958919	G	A	ncRNA_intronic	LOC100507065	unknown	SNV	-	-	-	0	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chrX	123313898	123313898	A	G	intergenic	STAG2,SH2D1A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,hematopoietic system phenotype	-,Non-Hodgkin lymphoma|Lymphoproliferative syndrome, X-linked type 1.|Lymphoproliferative syndrome, X-linked type 1|Lymphoproliferative syndrome, X-linked|Lymphoproliferative syndrome, in males, association with|Immunodeficiency syndrome, common variable|Haemophagocytic lymphohistiocytosis	ICGC,
chr1	219041119	219041119	T	C	intergenic	TGFB2,LYPLAL1-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	Breast cancer, progression, association with|Loeys-Dietz syndrome 4|Thoracic aortic aneurysms and dissections,-	ICGC,
chr5	105823144	105823144	C	T	intergenic	RAB9BP1,LOC102467213	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,-	-,-	ICGC,
chr2	102269202	102269202	T	C	intergenic	RFX8,MAP4K4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	Autism,-	ICGC,
chr4	177465604	177465604	A	C	intergenic	SPCS3,VEGFC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,Lymphoedema, primary, Milroy-like	ICGC,
chr14	84264755	84264755	C	A	intergenic	NONE,LINC00911	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr8	68908285	68908285	T	A	intronic	PREX2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	-	ICGC,
chr1	94347987	94347987	G	A	intergenic	DNTTIP2,GCLM	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,mortality/aging	-,Myocardial infarction, association with	ICGC,
chr3	154174815	154174815	C	G	intergenic	GPR149,MME	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9137550	-	OV-AU|1|93|0.01075	-	-	reproductive system phenotype,integument phenotype	-,Alzheimer disease, association with|Anxiety, association with|Cerebral amyloid angiopathy, severity, association with|Fetomaternal alloimmunisation|Increased enzyme activity|Reduced enzyme activity	COSMIC,ICGC,
chr15	62546270	62546270	A	C	intergenic	C2CD4B,MIR8067	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr3	40747055	40747055	G	T	intergenic	ZNF621,CTNNB1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	-,Intellectual disability, syndromic  |Intellectual disability|Developmental delay, neurodegeneration & hair/skin/facial anomalies|Colorectal adenoma|Autism	ICGC,
chr2	192866710	192866710	G	A	intronic	TMEFF2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	-	ICGC,
chr2	95397240	95397240	C	A	intergenic	NONE,FAM95A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr18	7765444	7765444	A	G	intronic	PTPRM	unknown	SNV	-	-	-	3.23e-05	-	-	-	-	-	COSN6136945	-	LIRI-JP|1|258|0.00388	-	-	cardiovascular system phenotype	Potential protein deficiency	COSMIC,ICGC,
chr2	37910828	37910836	GGTATCTGT	-	intergenic	CDC42EP3,LINC00211	unknown	deletion	-	-	-	-	-	-	-	-	-	COSN24967161	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	COSMIC,ICGC,
chr1	79208931	79208931	A	G	intergenic	IFI44,ELTD1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN202183	-	-	-	-	-,normal phenotype	-,-	COSMIC,
chr7	52472333	52472333	G	A	intergenic	COBL,POM121L12	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	nervous system phenotype,-	-,-	ICGC,
chr7	142837534	142837534	-	AC	downstream	PIP	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	-	ICGC,
chr5	7949221	7949221	-	GAAA	intergenic	MTRR,LOC729506	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|2|67|0.02985	-	-	growth/size phenotype,-	Increased serum methylmalonic acid levels, association with|Methionine synthase reductase deficiency|Pancreatic cancer, increased risk, association with|Spina bifida, increased risk in offspring, association|Temporomandibular disorder, association with|Homocystinuria.|Homocystinuria, cblE type|Altered activity|Colon cancer, sporadic, reduced risk|Coronary artery disease, association with|Coronary heart disease, increased risk, association with  |Homocystinuria,-	ICGC,
chr7	110322261	110322261	C	T	intronic	IMMP2L	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25094137	-	MALY-DE|1|241|0.00415	-	-	reproductive system phenotype	Gilles de la Tourette syndrome|Autism	COSMIC,ICGC,
chr8	18974671	18974671	C	T	intergenic	PSD3,LOC100128993	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr9	28229384	28229384	T	C	intronic	LINGO2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Autism spectrum disorder  |Developmental delay with absent speech	ICGC,
chr11	4225703	4225703	G	A	intergenic	LOC100506082,OR52B4	unknown	SNV	-	-	-	3.231e-05	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,Potential protein deficiency	ICGC,
chrX	77678892	77678892	G	C	intergenic	CYSLTR1,ZCCHC5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	respiratory system phenotype,-	Asthma, association with|Atopy, association with|Decreased expression,-	ICGC,
chr4	34778214	34778214	A	C	intergenic	NONE,ARAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	ICGC,
chr1	190304244	190304244	G	T	intronic	BRINP3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BOCA-UK|1|130|0.00769	-	-	-	-	ICGC,
chr4	148518896	148518896	C	T	intergenic	EDNRA,TMEM184C	unknown	SNV	-	-	-	0.2792	rs72721962	-	0.28095	-	0.348	-	-	LAML-KR|1|205|0.00488	-	-	mortality/aging,-	Reduced pulmonary function, in cystic fibrosis, association with|Myocardial infarction|Migraine, association with|Intracranial aneurysm, increased risk, association with|Hypertension, protection against, association with |Hernia, diaphragmatic |Congenital absence of the vas deferens, association with|Breast cancer, susceptibility to, association with|Adrenal hyperplasia, macronodular, ACTH-independent,-	ICGC,
chr2	104403337	104403337	G	A	intergenic	TMEM182,LOC100287010	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr11	66197499	66197499	G	A	intergenic	NPAS4,MRPL11	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Intellectual disability & dysmorphic features|Reduced transcriptional activity,-	ICGC,
chr14	32861799	32861799	A	G	intronic	AKAP6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging	-	ICGC,
chrX	45131877	45131877	G	A	intergenic	CXorf36,LINC01204	unknown	SNV	-	-	-	5.032e-05	-	-	-	-	-	COSN4790644	-	-	-	-	-,-	-,-	COSMIC,
chr17	940741	940741	C	A	intronic	ABR	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9675100	-	RECA-EU|1|422|0.00237	-	-	mortality/aging	-	COSMIC,ICGC,
chr3	28636175	28636175	G	A	ncRNA_intronic	LINC00693	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22528968	-	BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr22	43080200	43080200	C	T	intergenic	CYB5R3,A4GALT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	Reduced hemolysis, in sickle cell disease, association with |Methaemoglobinaemia 3|Methaemoglobinaemia 2|Methaemoglobinaemia 1|Methaemoglobinaemia|Altered activity,Pk synthase deficiency (p phenotype)|NOR polyagglutination|Histo-blood group variant (P1/P2)	ICGC,
chrX	11556946	11556946	C	A	intronic	ARHGAP6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Microphthalamia with linear skin defects	ICGC,
chr20	61748569	61748569	T	A	intergenic	HAR1A,MIR124-3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	ICGC,
chr12	82571316	82571316	T	C	intergenic	LOC101928449,CCDC59	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	ICGC,
chr18	73500996	73500996	G	A	intergenic	SMIM21,LOC339298	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr12	31975658	31975658	G	A	intergenic	H3F3C,KIAA1551	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr16	46778267	46778267	-	TTT	intronic	MYLK3	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	cardiovascular system phenotype	-	ICGC,
chr5	162252025	162252025	C	G	intergenic	GABRG2,CCNG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	mortality/aging,mortality/aging	Seizures, generalized tonic-clonic|Myoclonic epilepsy of infancy |Generalized epilepsy with febrile seizures plus|Febrile seizures|Epilepsy, susceptibility to|Epilepsy, idiopathic generalised  |Epilepsy, childhood absence with febrile seizures|Dravet syndrome,-	ICGC,
chr8	2855673	2855673	T	G	exonic	CSMD1	nonsynonymous	SNV	0.006	0.996	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	Schizophrenia, association with |Hyperinsulinism|Autism|Attention deficit hyperactivity disorder 	ICGC,
chr9	126067185	126067185	C	T	intergenic	STRBP,CRB2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	mortality/aging,mortality/aging	-,-	ICGC,
chr10	110044022	110044022	G	A	intergenic	SORCS1,RNU6-53P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	other phenotype,-	Autism ,-	ICGC,
chrX	34899658	34899658	C	A	intergenic	TMEM47,FAM47B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Intellectual disability & language delay,Potential protein deficiency	ICGC,
chr8	86942992	86942992	C	T	intergenic	REXO1L2P,PSKH2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr7	88881942	88881942	A	C	intronic	ZNF804B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16709560	-	PAEN-IT|1|37|0.02703	-	-	-	-	COSMIC,COSMIC,ICGC,
chr5	120449348	120449348	T	G	intergenic	PRR16,LOC102467226	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6859615	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr4	147695662	147695662	C	T	intronic	TTC29	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr1	104409264	104409264	A	C	intergenic	AMY1A,LOC100129138	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	Obesity, increased risk,-	ICGC,
chr3	88933197	88933197	A	G	intergenic	C3orf38,EPHA3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,Oligozoospermia|Schizophrenia    |Sertoli-cell-only syndrome	ICGC,
chr16	6183168	6183168	C	T	intronic	RBFOX1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Muscular and feet abnormalities|Mental retardation|Epilepsy, rolandic  |Epilepsy|Developmental delay, facial dysmorphism  |Developmental delay and transposition of the great arteries|Developmental delay and diplegia|Developmental delay and craniosynostosis|Developmental delay  |Cardiac defects|Cardiac abnormalities, micrognathia and scoliosis|Autism spectrum disorder|Autism|Attention deficit hyperactivity disorder 	ICGC,
chr17	13591155	13591155	C	T	intergenic	HS3ST3A1,CDRT15P1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr7	64075847	64075847	C	T	ncRNA_exonic	LOC100128885	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-UK|1|140|0.00714	-	-	-	-	ICGC,
chr9	1221218	1221218	G	A	intergenic	DMRT2,SMARCA2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging,integument phenotype	-,Short stature|Schizophrenia, association with   |Nicholaides-Baraitser syndrome|Multiple congenital anomalies  |Lung cancer, association with|Intellectual disabilty, short stature and dysmorphisms|Hepatocellular carcinoma, in smokers, association with.|Hepatocellular carcinoma, association with.|Developmental delay & dysmorphic features|Developmental delay & autistic features|Developmental delay  |Coffin-Siris syndrome	ICGC,
chr6	124123589	124123589	T	G	intergenic	TRDN,NKAIN2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25886951	-	EOPC-DE|1|202|0.00495	-	-	behavior/neurological phenotype,-	Catecholaminergic polymorphic ventricular tachycardia,Developmental delay and recurrent infection|Various neurological abnormalities	COSMIC,ICGC,
chr3	186106087	186106087	G	A	intergenic	DGKG,LOC253573	unknown	SNV	-	-	-	-	rs555104493	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr6	104765868	104765868	G	A	intergenic	NONE,HACE1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,tumorigenesis	-,Wilms tumour 	ICGC,
chr5	15724638	15724638	T	G	intronic	FBXL7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-	-	ICGC,
chr4	61185002	61185002	G	A	intergenic	NONE,LPHN3	unknown	SNV	-	-	-	3.237e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,behavior/neurological phenotype	-,-	ICGC,
chr10	108656387	108656387	G	C	intronic	SORCS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15253879	-	ESAD-UK|1|301|0.00332	-	-	other phenotype	Autism 	COSMIC,ICGC,
chr5	3659548	3659548	G	C	intergenic	IRX1,LOC101929153	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	-,-	-,-	ICGC,
chr4	97377006	97377006	A	G	intergenic	PDHA2,STPG2-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr7	13816962	13816962	T	C	intergenic	ARL4A,ETV1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	reproductive system phenotype,mortality/aging	-,-	ICGC,
chr6	15232851	15232851	C	T	intergenic	LINC01108,JARID2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Cognitive impairment, gait disturbance & characteristic facial appearance|Cognitive impairment, gait disturbance, characteristic facial appearance, intellectual disability & behavioural abnormalities|Schizophrenia	ICGC,
chr4	112019637	112019637	C	T	intergenic	PITX2,C4orf32	unknown	SNV	-	-	-	6.679e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Ring dermoid of the cornea|Rieger syndrome|Peter anomaly|Omphalocele, association with |Omphalocele|Iris hypoplasia|Iridogoniodysgenesis syndrome|Craniofacial/acallosal CNS midline defects|Axenfeld-Rieger syndrome|Anterior segment dysgenesis,-	ICGC,
chrX	144168543	144168543	C	T	intergenic	UBE2NL,SPANXN1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2347385	-	LIRI-JP|1|258|0.00388	-	-	-,-	Potential protein deficiency,-	COSMIC,ICGC,
chr13	82719634	82719634	A	T	intergenic	SPRY2,SLITRK1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7420054	-	PACA-AU|1|391|0.00256	-	-	mortality/aging,mortality/aging	Cleft lip ,Trichotillomania|Tourette syndrome|Obsessive-compulsive disorder |Attention deficit hyperactivity disorder 	COSMIC,ICGC,
chr3	1610801	1610801	G	A	intergenic	CNTN6,CNTN4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,nervous system phenotype	Intellectual disability  ,Spinocerebellar ataxia 16 |Features of 3p deletion syndrome|Autism spectrum disorder |Autism	ICGC,
chr18	73345747	73345747	C	A	intergenic	SMIM21,LOC339298	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CN|1|65|0.01538	-	-	-,-	-,-	ICGC,
chr5	90454341	90454341	G	A	intronic	GPR98	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	mortality/aging	Usher syndrome 3|Usher syndrome 2|Usher syndrome 1|Usher syndrome|Retinitis pigmentosa|Hearing loss, progressive  |Febrile and afebrile seizures|Deafness, non-syndromic|Deafness  |Autism	ICGC,
chr3	141728993	141728993	G	A	intronic	TFDP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325,SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr5	17615405	17615405	T	C	intergenic	LOC401177,CDH18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,Anorectal malformation	ICGC,
chr20	4116728	4116728	T	C	intergenic	RNF24,SMOX	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	90437826	90437826	G	A	intergenic	EPHA3,NONE	unknown	SNV	-	-	-	0.0018	rs147099522	-	0.00159744	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Oligozoospermia|Schizophrenia    |Sertoli-cell-only syndrome,-	ICGC,
chr4	29304540	29304540	G	A	intergenic	MIR4275,PCDH7	unknown	SNV	-	-	-	-	rs540990890	-	0.000199681	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	-,-	-,-	ICGC,
chr10	124812784	124812784	C	T	intronic	ACADSB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	2-Methylbutyryl-CoA dehydrogenase deficiency|Higher diastolic blood pressure in women, association with|Higher systolic blood pressure in women, association	ICGC,
chr2	53339694	53339694	C	A	intergenic	NONE,ASB3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr16	71556255	71556255	A	G	intergenic	ZNF19,CHST4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,immune system phenotype	-,-	ICGC,
chr3	162553784	162553784	T	C	intergenic	OTOL1,LINC01192	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	69444790	69444790	A	G	intergenic	DEPDC1-AS1,LRRC7	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21459873	-	BRCA-EU|1|569|0.00176	-	-	-,mortality/aging	-,-	COSMIC,ICGC,
chr1	152636872	152636872	T	A	exonic	LCE2D	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM4410550	-	ESAD-UK|1|301|0.00332	-	-	-	-	COSMIC,ICGC,
chr2	205200095	205200095	-	CACC	intergenic	ICOS,PARD3B	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	hematopoietic system phenotype,-	Allergic sensitisation, association with|Decreased mRNA levels |Immunodeficiency, common variable,AIDS progression, protection, association with	ICGC,
chr18	27331477	27331477	C	T	intergenic	CDH2,MIR302F	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Reduced expression|Potential protein deficiency|Alzheimer disease  ,-	ICGC,
chr12	45970633	45970633	CC	TT	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr22	18943144	18943144	C	T	intergenic	PRODH,DGCR5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,-	Increased proline level in schizophrenia|Increased enzyme activity|Hyperprolinaemia, association with.|Hyperprolinaemia, association with|Hyperprolinaemia|Autism, association with|Autism  ,DiGeorge syndrome	ICGC,
chr11	97056312	97056312	A	G	intergenic	JRKL-AS1,MIR7976	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	-,-	ICGC,
chr2	154779283	154779283	-	A	intronic	GALNT13	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PRAD-UK|1|140|0.00714	-	-	normal phenotype	-	ICGC,
chr18	40721574	40721574	T	A	intergenic	RIT2,SYT4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN4773501	-	MALY-DE|1|241|0.00415	-	-	-,behavior/neurological phenotype	-,-	COSMIC,ICGC,
chr10	85555573	85555573	T	C	intergenic	NRG3,GHITM	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CN|1|65|0.01538	-	-	integument phenotype,-	Schizophrenia, association with |Increased ventrolateral PFC activation|Hirschsprung disease  ,-	ICGC,
chr11	134080983	134080983	C	A	intronic	NCAPD3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	-	ICGC,
chr8	63765071	63765071	C	T	intronic	NKAIN3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Dravet syndrome   	ICGC,
chr13	84296668	84296668	A	G	intergenic	NONE,SLITRK1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,Trichotillomania|Tourette syndrome|Obsessive-compulsive disorder |Attention deficit hyperactivity disorder 	ICGC,
chr1	92674307	92674307	C	G	intergenic	KIAA1107,C1orf146	unknown	SNV	-	-	-	6.46e-05	rs150517683	-	0.000199681	-	-	COSN6473225	-	-	-	-	-,-	-,-	COSMIC,
chr8	52334638	52334638	G	A	intronic	PXDNL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-	-	ICGC,
chr12	102174052	102174052	C	A	exonic	GNPTAB	stopgain	SNV	-	-	-	-	-	-	-	-	-	COSM934056	UCEC|2|248|0.00806	UCEC-US|2|250|0.00800	-	-	vision/eye phenotype	Stuttering|Mucolipidosis, intermediate|Mucolipidosis IIIA|Mucolipidosis III|Mucolipidosis IIA/B|Mucolipidosis II/IIIAB, intermediate|Mucolipidosis II	COSMIC,COSMIC,TCGA,ICGC,
chr7	10393257	10393257	T	G	intergenic	PER4,NDUFA4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,Complex I deficiency|Cytochrome c oxidase deficiency	ICGC,
chr6	121605836	121605836	A	G	intronic	TBC1D32	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6300668	-	LIRI-JP|1|258|0.00388	-	-	-	Oro-facio-digital syndrome type IX	COSMIC,ICGC,
chr8	144109384	144109384	C	T	intergenic	LY6E,C8orf31	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	-,-	ICGC,
chr17	57944024	57944024	A	G	exonic	TUBD1	nonsynonymous	SNV	0.003	0.858	-	-	-	-	-	-	-	COSM4068329	STAD|1|395|0.00253,STES|1|395|0.00253	STAD-US|1|289|0.00346	-	-	-	-	COSMIC,TCGA,ICGC,
chr3	155270224	155270224	G	T	intronic	PLCH1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16190029	-	-	-	-	-	-	COSMIC,
chr7	48925361	48925361	T	A	intergenic	ABCA13,CDC14C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	Schizophrenia / depression|Schizophrenia / bipolar disorder / depression |Schizophrenia  |Bipolar disorder  |Autism|Anorectal malformation,-	ICGC,
chr8	143105436	143105436	G	T	intergenic	MROH5,MIR4472-1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	ICGC,
chr7	114284487	114284487	G	A	intronic	FOXP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Verbal dyspraxia, dysmorphism and developmental delay|Verbal apraxia & dysarthria|Verbal apraxia|Speech impairment, developmental delay & congenital anomalies|Speech disorder, global development & psychomotor delay|Mental retardation, dysmorphia and language delay|Left opercular polymicrogyria|Dyspraxia and language delay|Developmental verbal dyspraxia|Childhood apraxia of speech|Autism spectrum disorder 	ICGC,
chr5	59078236	59078236	G	C	intronic	PDE4D	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	RECA-EU|1|422|0.00237	-	-	mortality/aging	Psychomotor retardation, coarse facies & ocular anomalies|Intellectual disability syndrome with low body mass index & facial features|Acrodysostosis	ICGC,
chr8	51252369	51252369	G	T	intronic	SNTG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-	Autism|Intellectual disability, cleft palate, hearing loss and dysmorphisms	ICGC,
chr3	156175666	156175666	C	A	intronic	KCNAB1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5039145	-	LINC-JP|1|394|0.00254	-	-	mortality/aging	-	COSMIC,ICGC,
chr3	39523052	39523052	A	T	intronic	MOBP	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	behavior/neurological phenotype	-	ICGC,
chr13	29757709	29757709	C	T	intronic	MTUS2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr3	96228174	96228174	C	T	intergenic	MIR8060,EPHA6	unknown	SNV	-	-	-	0.0003	-	-	-	-	-	-	-	PRAD-CN|1|65|0.01538	-	-	-,behavior/neurological phenotype	-,Alzheimer disease  	ICGC,
chr12	88589258	88589258	A	-	exonic	TMTC3	frameshift	deletion	-	-	-	-	-	-	-	-	-	COSM6804803	-	-	-	-	mortality/aging	-	COSMIC,
chr3	147031944	147031944	G	C	intergenic	PLSCR5,ZIC4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22608418	-	BRCA-EU|1|569|0.00176	-	-	-,mortality/aging	-,-	COSMIC,ICGC,
chr6	159241675	159241675	T	C	ncRNA_intronic	EZR-AS1	unknown	SNV	-	-	-	0.0008	rs541645000	-	0.000399361	-	-	COSN17740408	-	ESAD-UK|1|301|0.00332	-	-	-	-	COSMIC,ICGC,
chr22	46084844	46084844	C	T	intronic	ATXN10	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25738457	-	EOPC-DE|1|202|0.00495	-	-	-	Nephronophthisis  |Spinocerebellar ataxia 10	COSMIC,ICGC,
chr20	49311242	49311242	A	-	intergenic	FAM65C,PARD6B	unknown	deletion	-	-	-	0.0007	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr1	107672906	107672906	C	T	intergenic	PRMT6,NTNG1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20142775	-	PACA-CA|1|268|0.00373	-	-	-,mortality/aging	-,Rett syndrome|Autism	COSMIC,ICGC,
chr22	44375771	44375771	T	C	intronic	SAMM50	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-	-	ICGC,
chr16	81240343	81240343	C	T	intronic	PKD1L2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	Potential protein deficiency	ICGC,
chr16	31519139	31519139	C	T	exonic	C16orf58	nonsynonymous	SNV	0.0	0.999	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr8	127821726	127821726	G	A	intergenic	FAM84B,PCAT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,Prostate cancer risk, association with	ICGC,
chr5	152017019	152017019	-	T	ncRNA_intronic	LOC101927134	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	-	ICGC,
chr18	54586951	54586951	C	A	intronic	WDR7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr5	161012005	161012005	G	C	intergenic	GABRB2,GABRA6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	skeleton phenotype,behavior/neurological phenotype	-,Idiopathic epilepsy, generalised 	ICGC,
chr13	82958541	82958541	A	-	intergenic	SPRY2,SLITRK1	unknown	deletion	-	-	-	9.761e-05	-	-	-	-	-	COSN28060154	-	PACA-CA|1|268|0.00373	-	-	mortality/aging,mortality/aging	Cleft lip ,Trichotillomania|Tourette syndrome|Obsessive-compulsive disorder |Attention deficit hyperactivity disorder 	COSMIC,ICGC,
chr4	25546628	25546628	T	C	intergenic	ANAPC4,SLC34A2	unknown	SNV	-	-	-	0.1089	rs13124238	-	0.125799	-	0.181	-	-	LAML-KR|1|205|0.00488	-	-	-,mortality/aging	-,Potential protein deficiency|Pulmonary alveolar microlithiasis	ICGC,
chr6	162903921	162903921	A	C	intronic	PARK2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Parkinson disease, decreased risk|Parkinson disease, early-onset|Parkinson disease, early-onset.|Parkinson disease, familial|Parkinson disease, familial, association with |Parkinson disease, idiopathic|Parkinson disease, in heterozygosity, association|Parkinson disease, late-onset|Parkinson disease, sporadic, reduced risk|Parkinson disease.|Parkinsonism, juvenile, autosomal recessive|Parkinsonism, late-onset, association with|Rolandic epilepsy |Parkinson disease, autosomal recessive|Parkinson disease, association with|Parkinson disease with resting leg tremor|Attention deficit hyperactivity disorder |Autism spectrum disorder|Cervical artery dissection|Dementia with Lewy bodies|Developmental delay  |Dystonia, dopa-responsive|Leprosy, association with|Lewy bodies|Lung adenocarcinoma   |Multiple system atrophy, cerebellar subtype|Parkinson disease|Parkinson disease with dementia.|Parkinson disease with Lewy bodies	ICGC,
chr12	64810395	64810395	G	T	intronic	XPOT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-	Schizophrenia  	ICGC,
chr12	117026414	117026414	-	GTGG	intergenic	MAP1LC3B2,C12orf49	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chrX	48652421	48652421	C	G	exonic	GATA1	stopgain	SNV	-	-	-	-	-	-	-	-	-	-	-	-	not_specified	-	integument phenotype	Thrombocytopaenia 1|Porphyria, congenital erythropoietic|Macrocytic anaemia with variable neutropaenia|Lu(a-b-) blood group & macrothrombocytic thrombocytopaenia|Grey platelet syndrome|Dyserythropoietic anaemia and thrombocytopaenia|Diamond-Blackfan anaemia	ClinVar,
chr5	60726603	60726603	A	G	intronic	ZSWIM6	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6923957	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr8	142491973	142491973	C	T	intronic	MROH5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr21	32154078	32154078	G	T	intergenic	KRTAP21-1,KRTAP8-1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-,-	-,-	ICGC,
chr5	62620952	62620952	C	T	intergenic	IPO11,HTR1A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27712891	-	NKTL-SG|1|50|0.02000	-	-	-,mortality/aging	-,Tourette syndrome |Reduced expression|Personality disorders, association with.|Menstrual cycle-dependent fever|Major depression and suicide, association with|Major depression|Impulsive behaviour, association with|Epileptic seizures |Comorbid depression and generalized anxiety, association with|Attenuated agonist-mediated receptor down-regulation and desensitization	COSMIC,ICGC,
chr20	23792467	23792467	G	A	intergenic	CST1,CST2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr12	5264334	5264334	C	T	intergenic	KCNA5,LOC101929584	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype,-	Pulmonary arterial hypertension|Postoperative atrial fibrillation, association with|Cardiac arrhythmia|Atrial fibrillation|Altered channel function,-	ICGC,
chrX	79605410	79605410	C	A	intronic	FAM46D	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-	-	ICGC,
chr1	160901969	160901969	T	C	upstream	LOC101928372	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25241500	-	MALY-DE|1|241|0.00415	-	-	-	-	COSMIC,ICGC,
chr13	69778984	69778991	TTTATTTT	-	intergenic	LINC00550,KLHL1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,behavior/neurological phenotype	-,Breast cancer, increased risk  	ICGC,
chr13	42179403	42179403	C	G	exonic	VWA8	nonsynonymous	SNV	0.14	0.996	-	-	-	-	-	-	-	-	-	GACA-JP|1|585|0.00171	-	-	-	Potential protein deficiency	ICGC,
chr13	65762903	65762903	C	A	intergenic	OR7E156P,PCDH9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	-,-	ICGC,
chr10	26417181	26417181	C	T	intronic	MYO3A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hearing/vestibular/ear phenotype	Deafness|Hearing loss, non-syndromic	ICGC,
chr2	10274485	10274485	G	C	intergenic	RRM2,C2orf48	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26807027	-	PRAD-FR|1|25|0.04000	-	-	-,-	-,-	COSMIC,ICGC,
chrX	132539541	132539541	A	-	intronic	GPC4	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	RECA-EU|1|422|0.00237	-	-	hematopoietic system phenotype	Simpson-Golabi-Behmel syndrome 	ICGC,
chr2	68792692	68792692	-	CATA	intronic	APLF	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|2|67|0.02985	-	-	hematopoietic system phenotype	Potential protein deficiency	ICGC,
chr13	83806379	83806379	C	T	intergenic	NONE,SLITRK1	unknown	SNV	-	-	-	-	rs192308643	-	-	-	-	COSN25538160	-	MALY-DE|1|241|0.00415,MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Trichotillomania|Tourette syndrome|Obsessive-compulsive disorder |Attention deficit hyperactivity disorder 	COSMIC,ICGC,
chr9	106139205	106139205	T	A	intergenic	LOC101928496,LOC101928523	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27054745	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr8	23135092	23135092	C	T	intergenic	CHMP7,R3HCC1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr6	85270545	85270545	C	T	intergenic	CEP162,TBX18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Autism	ICGC,
chr11	80593324	80593324	G	T	intergenic	LOC101928944,LOC101928989	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	-,-	ICGC,
chr18	50456066	50456066	A	T	intronic	DCC	unknown	SNV	-	-	-	0.1411	rs17391190	-	0.0970447	-	0.087	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Altered p53 transactivation|Colorectal cancer, risk, association with |Mirror movements, congenital	ICGC,
chr13	49691508	49691508	T	G	intronic	FNDC3A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	reproductive system phenotype	-	ICGC,
chr10	70636781	70636781	C	T	intronic	STOX1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	Preeclampsia	ICGC,
chr20	215724	215724	-	A	intergenic	DEFB129,DEFB132	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN23246576	-	-	-	-	-,-	-,-	COSMIC,
chr8	9708747	9708747	G	C	intergenic	TNKS,LINC00599	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9273056	-	RECA-EU|1|422|0.00237	-	-	mortality/aging,mortality/aging	Autism|Schizophrenia,-	COSMIC,ICGC,
chr4	152861024	152861024	C	T	intergenic	PET112,LOC100996286	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-JP|1|585|0.00171	-	-	-,-	-,-	ICGC,
chr11	73764797	73764797	A	G	intronic	C2CD3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5918391	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging	Autism spectrum disorder  |Potential protein deficiency	COSMIC,ICGC,
chr2	78311704	78311704	G	A	ncRNA_intronic	LOC101927967	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	-	ICGC,
chr5	23014762	23014762	T	G	intergenic	CDH12,PRDM9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,reproductive system phenotype	Lung cancer, susceptibility to, association with,Altered meiotic recombination hotspot usage|Azoospermia by meiotic arrest, association with |Azoospermia, non-obstructive 	ICGC,
chr7	107545454	107545454	C	A	exonic	DLD	nonsynonymous	SNV	0.002	0.979	-	-	-	-	-	-	-	COSM3877066	STAD|1|395|0.00253,STES|1|395|0.00253	STAD-US|1|289|0.00346	-	-	mortality/aging	Dihydrolipoamide dehydrogenase deficiency|Altered promoter activity|Acute liver failure & Reye-like syndrome	COSMIC,COSMIC,TCGA,ICGC,
chr16	34601474	34601474	C	T	ncRNA_intronic	LOC283914	unknown	SNV	-	-	-	3.229e-05	-	-	-	-	-	COSN7256708	-	PACA-AU|1|391|0.00256	-	-	-	-	COSMIC,ICGC,
chr1	41541275	41541275	G	A	intronic	SCMH1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5741277	-	LINC-JP|1|394|0.00254	-	-	skeleton phenotype	-	COSMIC,ICGC,
chr5	12287382	12287382	T	G	intergenic	CTNND2,LINC01194	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	behavior/neurological phenotype,-	Schizophrenia  |Lennox-Gastaut syndrome |Autism spectrum disorder|Anorectal malformation|Altered localisation,-	ICGC,
chrX	143776071	143776071	G	A	intergenic	UBE2NL,SPANXN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,-	Potential protein deficiency,-	ICGC,
chr9	88063677	88063677	C	T	intergenic	NTRK2,AGTPBP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,vision/eye phenotype	Anxiety-related traits, association with|Obesity, hyperphagia, and developmental delay,-	ICGC,
chr10	23888151	23888151	C	T	intergenic	OTUD1,KIAA1217	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,Autism spectrum disorder	ICGC,
chr4	34058250	34058250	G	A	intergenic	NONE,ARAP2	unknown	SNV	-	-	-	0.2357	rs7435218	-	0.298722	-	0.254	-	-	ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488	-	-	-,-	-,-	ICGC,
chr11	100273261	100273261	T	G	intergenic	CNTN5,ARHGAP42	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	behavior/neurological phenotype,-	-,-	ICGC,
chr8	78999524	78999524	T	A	intergenic	PEX2,PKIA	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9681274	-	OV-AU|1|93|0.01075	-	-	mortality/aging,normal phenotype	Zellweger syndrome|Refsum disease, infantile|Peroxisome biogenesis disorder|Cerebellar ataxia, autosomal recessive,-	COSMIC,COSMIC,ICGC,
chr10	83860458	83860458	C	G	intronic	NRG3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype	Schizophrenia, association with |Increased ventrolateral PFC activation|Hirschsprung disease  	ICGC,
chr16	3140103	3140103	G	A	exonic	ZSCAN10	synonymous	SNV	-	-	5.25e-05	6.475e-05	rs377415911	7.404e-05	-	8.2e-05	-	COSM6522519	-	-	-	-	-	-	COSMIC,
chr13	98469071	98469071	A	T	intergenic	RAP2A,IPO5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	NKTL-SG|1|50|0.02000	-	-	-,-	-,-	ICGC,
chr7	99336771	99336771	C	T	intergenic	CYP3A7-CYP3AP1,CYP3A4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LAML-KR|1|205|0.00488	-	-	-,-	-,Potential protein deficiency|Prostate cancer, association with|Prostate cancer, higher grade, association  with|Prostate cancer, low aggressiveness, association with|Reduced anandamide metabolism|Reduced enhancer activity|Subarachnoid haemorrhage, association with|Tuberculosis, association with|Lower activity|Low bone mineral density|Higher activity|Altered activity|Altered gene expression |Altered paclitaxel metabolism|Coronary heart disease, increased risk, association with  |CYP3A4 null allele|CYP3A4 variant|Decreased low-density lipoprotein cholesterol levels, association|Diminished tacrolimus clearance	ICGC,
chr9	83241857	83241857	G	A	intergenic	LOC101927477,TLE1	unknown	SNV	-	-	-	-	rs866243368	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	4588819	4588819	A	G	intronic	ITPR1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	RECA-EU|1|422|0.00237	-	-	mortality/aging	Spinocerebellar ataxia, congenital nonprogressive|Spinocerebellar ataxia type 16|Spinocerebellar ataxia type 15|Spinocerebellar ataxia 15/29|Spinocerebellar ataxia 15/16|Spinocerebellar ataxia 15|Schizophrenia  |Potential protein deficiency	ICGC,
chr8	93239006	93239006	A	G	intergenic	RUNX1T1,FLJ46284	unknown	SNV	-	-	-	0.2788	rs9657009	-	0.267572	-	0.312	-	-	ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488	-	-	integument phenotype,-	Intellectual disability  ,-	ICGC,
chr19	6937592	6937592	C	T	exonic	EMR1	nonsynonymous	SNV	0.029	0.994	8.125e-06	-	rs762112343	8.243e-06	-	-	-	COSM4971015	-	-	-	-	immune system phenotype	Schizophrenia	COSMIC,
chr5	25406753	25406753	T	A	intergenic	LOC340107,CDH9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr17	76235125	76235125	G	C	exonic	TMEM235	nonsynonymous	SNV	0.303	-	7.108e-06	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	-	ICGC,
chr17	47863398	47863398	A	T	intergenic	FAM117A,KAT7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-UK|1|140|0.00714	-	-	-,mortality/aging	-,-	ICGC,
chr18	15046272	15046272	A	G	intergenic	LINC01443,LOC644669	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr3	82714964	82714964	G	A	intergenic	GBE1,LINC00971	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	mortality/aging,-	Potential protein deficiency|Polyglucosan body disease, relapsing-remitting form|Polyglucosan body disease, adult|Lethal multiple pterygium syndrome|Glycogen storage disease 4, non-lethal neuromuscular|Glycogen storage disease 4, neonatal|Glycogen storage disease 4|Autism spectrum disorder|Adult polyglucosan body disease,-	ICGC,
chr2	7657463	7657463	A	G	intergenic	LOC100506274,LOC101929551	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr15	38130396	38130396	G	C	intergenic	MEIS2,TMCO5A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	-,-	Cleft palate & cardiac septum ,-	ICGC,
chr6	115214841	115214841	G	A	intergenic	HS3ST5,FRK	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,homeostasis/metabolism phenotype	-,Potential protein deficiency	ICGC,
chr20	7646775	7646775	T	G	intergenic	MIR8062,HAO1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25213342	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	COSMIC,ICGC,
chr4	28371038	28371038	C	A	intergenic	STIM2,MIR4275	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	-,-	ICGC,
chr18	7033058	7033058	A	G	exonic	LAMA1	synonymous	SNV	-	-	-	-	-	-	-	-	-	-	COAD|1|367|0.00272,COADREAD|1|489|0.00204	-	-	-	mortality/aging	High myopia, increased risk, association with|Intellectual disability  |Pancreatic cancer 	TCGA,
chr21	24436799	24436799	C	T	intergenic	LINC00308,D21S2088E	unknown	SNV	-	-	-	0.0002	rs777349571	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr15	78305366	78305366	C	T	exonic	TBC1D2B	nonsynonymous	SNV	0.447	0.001	-	-	-	-	-	-	-	COSM5054509	-	-	-	-	hematopoietic system phenotype	-	COSMIC,COSMIC,
chr18	76229272	76229272	G	A	intergenic	LINC01029,SALL3	unknown	SNV	-	-	-	0.0157	rs77094751	-	0.0155751	-	0.007	COSN15752951	-	LIRI-JP|1|258|0.00388	-	-	-,mortality/aging	-,-	COSMIC,ICGC,
chr12	20819829	20819829	-	AGTGTTATG	intronic	PDE3A	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	OV-AU|1|93|0.01075	-	-	reproductive system phenotype	-	ICGC,
chr8	127154100	127154100	C	T	intergenic	LINC00861,FAM84B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	33159975	33159975	C	T	intronic	SYNC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	cardiovascular system phenotype	-	ICGC,
chr11	18684915	18684915	C	T	intergenic	SPTY2D1,TMEM86A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20409513	-	COCA-CN|1|321|0.00312	-	-	-,-	-,-	COSMIC,ICGC,
chr15	25557705	25557705	G	A	intergenic	SNORD109A,UBE3A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23505969	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	-,Angelman syndrome|Autism|Autism spectrum disorder  |Epileptic encephalopathy  	COSMIC,ICGC,
chr7	126880688	126880688	T	G	intronic	GRM8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	behavior/neurological phenotype	Attention deficit hyperactivity disorder|Autism spectrum disorder  	ICGC,
chr10	23503538	23503538	C	T	ncRNA_intronic	C10orf115	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr4	160752784	160752784	C	T	intergenic	RAPGEF2,FSTL5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype,-	-,Schizophrenia  |Rolandic epilepsy 	ICGC,
chr6	94592749	94592749	G	T	intergenic	TSG1,MANEA-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	178668430	178668430	T	C	intronic	ADAMTS2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype	Ehlers-Danlos syndrome VIIc	ICGC,
chr8	95430931	95430931	G	A	intronic	RAD54B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Glaucoma, primary congenital	ICGC,
chr14	78595839	78595840	AT	-	intergenic	ADCK1,NONE	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|7|100|0.07000	-	-	-,-	-,-	ICGC,
chr1	35231809	35231809	C	A	intergenic	GJB4,GJB3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	taste/olfaction phenotype,integument phenotype	Progressive symmetric erythrokeratodermia of Gottron|Potential protein deficiency|Erythrokeratodermia variabilis|Deafness ,Peripheral neuropathy & hearing impairment|Nonsyndromic hearing loss |Erythrokeratodermia variabilis|Deafness, non-syndromic, autosomal recessive|Deafness, non-syndromic, autosomal dominant|Deafness 	ICGC,
chr20	3129641	3129641	G	A	exonic	FASTKD5	stopgain	SNV	-	-	1.22e-05	6.457e-05	rs757442015	1.648e-05	-	-	-	-	STAD|1|395|0.00253,STES|1|395|0.00253	-	-	-	-	-	TCGA,
chr3	153391020	153391020	C	T	intergenic	C3orf79,ARHGEF26-AS1	unknown	SNV	-	-	-	3.237e-05	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	ICGC,
chr3	153135731	153135731	C	T	intergenic	RAP2B,C3orf79	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	ICGC,
chr6	99554755	99554755	C	T	intergenic	FBXL4,FAXC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Mitochondrial encephalopathy, early-onset,-	ICGC,
chr2	98734822	98734822	G	A	intronic	VWA3B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	Autism spectrum disorder	ICGC,
chr15	58965330	58965330	-	A	intronic	ADAM10	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	mortality/aging	Reticulate acropigmentation of Kitamura|Alzheimer disease, late onset	ICGC,
chr2	79456329	79456329	T	G	intergenic	REG3A,LOC101927987	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	homeostasis/metabolism phenotype,-	-,-	ICGC,
chr4	91923797	91923797	C	T	intronic	CCSER1	unknown	SNV	-	-	-	3.237e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr12	33313555	33313555	C	T	intergenic	PKP2,SYT10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	mortality/aging,behavior/neurological phenotype	Sudden cardiac death  |Potential protein deficiency|Cardiomyopathy, dilated|Cardiomyopathy, arrhythmogenic, left-dominant|Cardiomyopathy, arrhythmogenic right ventricular|Brugada syndrome    |Arrhythmogenic right ventricular dysplasia/cardiomyopathy.|Arrhythmogenic right ventricular dysplasia/cardiomyopathy|Arrhythmogenic right ventricular dysplasia|Arrhythmogenic right ventricular cardiomyopathy.|Arrhythmogenic right ventricular cardiomyopathy, asymptomatic|Arrhythmogenic right ventricular cardiomyopathy|Sudden unexpected death with negative autopsy,-	ICGC,
chr13	64543025	64543025	T	G	intergenic	OR7E156P,NONE	unknown	SNV	-	-	-	0.1512	rs7987993	-	0.154153	-	0.225	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr10	17756533	17756533	C	A	intronic	STAM	unknown	SNV	-	-	0.0002	0.0002	rs79678367	0.0002	0.00299521	-	-	-	-	COCA-CN|1|321|0.00312	-	-	mortality/aging	-	ICGC,
chr16	35216317	35216317	A	G	intergenic	FLJ26245,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|4|186|0.02151	-	-	-,-	-,-	ICGC,
chr6	18651659	18651659	C	T	intergenic	MIR548A1,LOC101928519	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chrX	56411986	56411986	G	A	intergenic	KLF8,UBQLN2	unknown	SNV	-	-	-	9.21e-05	rs542026743	-	0.000264901	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	embryogenesis phenotype,-	Intellectual disability, absent speech & behavioural problems|Mental retardation, non-syndromic |Potential protein deficiency,Amyotrophic lateral sclerosis|Frontotemporal dementia|Frontotemporal dementia/Amyotrophic lateral sclerosis.|Frontotemporal lobar degeneration	ICGC,
chr22	35050880	35050880	C	T	intergenic	LARGE,ISX	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,no phenotypic analysis	Alpha-dystroglycanopathy |Autism, non-complex|Fukushima congenital muscular dystrophy|Muscular dystrophy, congenital 1D|Walker-Warburg syndrome|Walker-Warburg syndrome.,-	ICGC,
chr21	31757362	31757362	A	C	intergenic	MIR4327,KRTAP13-1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr3	130035419	130035419	C	T	intergenic	COL6A4P2,COL6A5	unknown	SNV	-	-	-	0.1662	rs1453260	-	0.271366	-	0.275	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,Atopic dermatitis, association with	ICGC,
chr1	214274744	214274744	G	A	intergenic	PROX1,SMYD2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27781284	-	UTCA-FR|1|20|0.05000	-	-	mortality/aging,cardiovascular system phenotype	-,-	COSMIC,ICGC,
chr20	51354450	51354450	G	A	intergenic	LOC101927700,TSHZ2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,Schizophrenia	ICGC,
chr2	188753144	188753144	T	G	intergenic	TFPI,GULP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,-	Increased plasma TFPI|Lower plasma TFPI|Reduced expression|Thrombophilia, association with,-	ICGC,
chr11	127592564	127592564	A	C	intergenic	LOC101929497,ETS1	unknown	SNV	-	-	-	-	rs767664568	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,Systemic lupus erythematosus, association with	ICGC,
chr6	101583310	101583310	T	A	intergenic	ASCC3,GRIK2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	other phenotype,behavior/neurological phenotype	Colorectal cancer, increased risk, association with|Intellectual disability  ,Mental retardation, non-syndromic, autosomal recessive	ICGC,
chr1	26684081	26684081	C	T	intergenic	AIM1L,ZNF683	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,hematopoietic system phenotype	-,Autism spectrum disorder	ICGC,
chr8	89695124	89695124	G	A	intergenic	MMP16,RIPK2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	mortality/aging,hematopoietic system phenotype	-,Autism spectrum disorder	ICGC,
chr11	131048958	131048958	G	A	intergenic	SNX19,NTM	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Autism spectrum disorder|Coronary heart disease, association with,Aortic aneurysm, thoracic & intracranial|Potential protein deficiency	ICGC,
chr1	143143666	143143666	G	A	ncRNA_intronic	LOC102723769	unknown	SNV	-	-	-	0.0003	-	-	-	-	-	COSN1404459	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr19	10473050	10473050	C	T	exonic	TYK2	nonsynonymous	SNV	1.0	0.002	0.0001	6.467e-05	rs142576987	0.0001	0.000199681	0.0004	-	-	-	-	Tyrosine_kinase_2_deficiency|Familial_Atypical_Mycobacteriosis,_Autosomal_Recessive	-	mortality/aging	Tyrosine kinase deficiency|Systemic lupus erythematosus, susceptibility association with|Psoriasis susceptibility, association with|Multiple sclerosis, susceptibility to |Multiple sclerosis, association with|Multiple sclerosis susceptibility|Hyper-IgE syndrome|Cancer, predisposition to|Autism spectrum disorder  |Acute myeloid leukaemia, reduced risk, association with	ClinVar,
chr1	77265931	77265931	G	A	intergenic	ST6GALNAC3,ST6GALNAC5	unknown	SNV	-	-	-	3.234e-05	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,-	-,Coronary artery disease  	ICGC,
chr12	107915080	107915080	-	GTGT	intronic	BTBD11	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|2|67|0.02985	-	-	-	-	ICGC,
chrX	63151555	63151555	A	C	intergenic	MIR1468,AMER1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7529750	-	PACA-AU|1|391|0.00256	-	-	-,mortality/aging	-,-	COSMIC,ICGC,
chr8	142175324	142175324	C	T	exonic	DENND3	nonsynonymous	SNV	0.0	1.0	1.218e-05	-	rs202173652	8.237e-06	0.000199681	-	-	COSM5475129	-	COCA-CN|1|321|0.00312	-	-	-	-	COSMIC,ICGC,
chr14	82310937	82310937	C	T	intergenic	LOC101928559,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|2|100|0.02000	-	-	-,-	-,-	ICGC,
chr9	10841917	10841917	G	T	intergenic	PTPRD-AS2,TYRP1	unknown	SNV	-	-	-	0.1051	rs73392979	-	0.0978435	-	0.101	-	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	-,Albinism, oculocutaneous  |Albinism, oculocutaneous 3|Melanesian blond hair	ICGC,
chr8	4706148	4706148	G	A	intronic	CSMD1	unknown	SNV	-	-	-	0.0001	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	Schizophrenia, association with |Hyperinsulinism|Autism|Attention deficit hyperactivity disorder 	ICGC,
chr16	10245420	10245420	G	A	intronic	GRIN2A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Intellectual disability  |Landau-Kleffner syndrome|Landau-Kleffner syndrome, atypical rolandic epilepsy, dysphasia, CSWS syndrome|Landau-Kleffner syndrome, verbal dyspraxia|Landau-Kleffner syndrome/benign epilepsy with centrotemporal spikes/atypical benign partial epilepsy|Mental retardation with abnormal EEG|Partial epilepsy, atypical benign|Rolandic epilepsy |Schizophrenia|Schizophrenia, chronic outcome, association with|Seizure disorders of rolandic region & intellectual disability|Increased hippocampal and amygdala volumes, association with|Epileptic encephalopathy, verbal dyspraxia|Epileptic encephalopathy, benign childhood epilepsy|Alcohol dependence, association with|Atypical rolandic epilepsy, absence epilepsy|Atypical rolandic epilepsy, verbal dyspraxia|Benign epilepsy with centrotemporal spikes|Epilepsy with cognitive impairment|Epilepsy-aphasia syndrome|Epilepsy, childhood-onset|Epileptic encephalopathy|Epileptic encephalopathy, abnormal EEG & developmental delay|Epileptic encephalopathy, atypical rolandic epilepsy, dysphasia|Epileptic encephalopathy, atypical rolandic epilepsy, verbal dyspraxia	ICGC,
chr16	77117165	77117165	G	A	intergenic	MIR4719,MON1B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	ICGC,
chr17	54930416	54930416	T	C	intronic	DGKE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	behavior/neurological phenotype	Haemolytic uraemic syndrome, atypical|Glomerular microangiopathy	ICGC,
chr14	76396219	76396219	C	G	intronic	TTLL5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-	Retinal dystrophy 	ICGC,
chr2	31093922	31093922	G	A	intergenic	CAPN13,GALNT14	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Leukemia, risk, association with ,-	ICGC,
chr11	40652870	40652870	A	G	intronic	LRRC4C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr13	82346211	82346211	C	G	intergenic	SPRY2,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	mortality/aging,-	Cleft lip ,-	ICGC,
chr22	42973878	42973878	G	A	ncRNA_exonic	RRP7B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19705555	-	COCA-CN|1|321|0.00312	-	-	-	-	COSMIC,ICGC,
chr3	78698275	78698275	-	AA	intronic	ROBO1	unknown	insertion	-	-	-	0.0122	-	-	-	-	-	COSN27472350	-	-	-	-	mortality/aging	Developmental dyslexia 	COSMIC,
chr3	56800988	56800988	G	A	intronic	ARHGEF3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16382539	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr12	115932542	115932542	C	T	intergenic	TBX3,MED13L	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Ulnar-mammary syndrome,Intellectual disability, nonsyndromic, no cardiac involvement|Hypotonia, learning difficulties & perimembranous ventricular septal defect|Hypotonia, intellectual disability, conotruncal heart defect & facial anomalies|Congenital heart defect|Colorectal cancer, increased risk, association with |Autism	ICGC,
chr11	66198535	66198535	G	A	intergenic	NPAS4,MRPL11	unknown	SNV	-	-	-	0	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Intellectual disability & dysmorphic features|Reduced transcriptional activity,-	ICGC,
chrX	143630382	143630382	C	G	intergenic	UBE2NL,SPANXN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	Potential protein deficiency,-	ICGC,
chr20	36186725	36186725	C	T	intergenic	BLCAP,LINC00489	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr6	54154730	54154730	G	A	intergenic	MLIP,TINAG	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6591324	-	PBCA-DE|1|499|0.00200	-	-	-,-	-,Chronic renal failure, childhood-onset	COSMIC,ICGC,
chr17	17697538	17697538	C	T	exonic	RAI1	synonymous	SNV	-	-	2.038e-05	3.23e-05	rs747528529	1.664e-05	-	-	-	-	-	-	not_specified	-	mortality/aging	Smith-Magenis syndrome|Potocki-Lupski syndrome|Potential protein deficiency|Colorectal cancer |Autism spectrum disorder	ClinVar,
chrX	48221785	48221785	T	-	intergenic	SSX3,SSX4B	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	30208214	30208214	C	G	intergenic	LOC101929681,CDH6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-,renal/urinary system phenotype	-,-	ICGC,
chr14	46357409	46357409	C	T	intergenic	MIS18BP1,LINC00871	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr16	64567606	64567606	A	C	intergenic	NONE,CDH11	unknown	SNV	-	-	-	-	rs557647883	-	0.000199681	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,-	ICGC,
chr14	24115890	24115890	G	A	intergenic	DHRS2,DHRS4-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr2	105376250	105376250	A	T	intergenic	LINC01114,LINC01158	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	-,-	ICGC,
chr7	124991328	124991328	G	A	ncRNA_intronic	LOC101928283	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr2	29080198	29080198	A	G	intronic	TRMT61B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr9	70007965	70007965	C	T	intergenic	LOC101928381,FOXD4L5	unknown	SNV	-	-	-	0.0014	-	-	-	-	-	-	-	PBCA-US|2|186|0.01075	-	-	-,-	-,-	ICGC,
chr13	38036877	38036877	G	T	intergenic	CSNK1A1L,LINC00547	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	Potential protein deficiency,-	ICGC,
chr7	67154135	67154135	G	A	intergenic	LINC01372,LOC102723427	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr6	70287254	70287254	T	G	intergenic	BAI3,LMBRD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-FR|1|72|0.01389	-	-	-,-	-,Methylmalonic aciduria & homocystinuria, cblF type	ICGC,
chr6	142194011	142194011	T	A	intergenic	MIR4465,NMBR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,behavior/neurological phenotype	-,-	ICGC,
chr6	42796183	42796183	C	T	intronic	GLTSCR1L	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	-	ICGC,
chr9	66530160	66530160	T	G	ncRNA_intronic	LOC403323	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr14	88459499	88459499	A	G	exonic	GALC	nonsynonymous	SNV	0.89	0.0	-	-	-	-	-	-	-	COSM3706416	-	BTCA-JP|1|239|0.00418,LINC-JP|1|394|0.00254	-	-	mortality/aging	Krabbe disease, association with|Krabbe disease|Glaucoma, primary open-angle|Glaucoma, primary open angle	COSMIC,ICGC,
chr5	14014502	14014502	A	G	intergenic	DNAH5,TRIO	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	mortality/aging,mortality/aging	Asthenozoospermia |Autism |Chronic rhinosinusitis and primary ciliary dyskinesia|Potential protein deficiency|Primary ciliary dyskinesia,Autism|Intellectual disability	ICGC,
chr20	7377010	7377010	G	A	intergenic	MIR8062,HAO1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr19	24033757	24033757	T	G	intergenic	RPSAP58,ZNF726	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	ICGC,
chr1	243098722	243098722	G	T	intergenic	PLD5,LINC01347	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN14492702	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	COSMIC,ICGC,
chr15	27658073	27658073	C	T	intronic	GABRG3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Potential protein deficiency	ICGC,
chr18	13965837	13965837	C	T	intergenic	MC2R,ZNF519	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Glucocorticoid deficiency without pigmentation|Glucocorticoid deficiency |Cushing syndrome|Androgen secretion, association with|Adrenal hypoplasia, salt-losing|ACTH responsiveness, association with|ACTH hypersensitivity syndrome,-	ICGC,
chr17	18800262	18800262	A	T	intronic	PRPSAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	hematopoietic system phenotype	-	ICGC,
chr20	57543292	57543292	C	T	intergenic	GNAS,NELFCD	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Progressive osseous heteroplasia|Progressive osseous heteroplasia / pseudohypoparathyroidism 1a|Pseudohypoparathyroidism|Pseudohypoparathyroidism 1a|Pseudohypoparathyroidism 1a, with testotoxicosis|Pseudohypoparathyroidism 1b|Pseudohypoparathyroidism 1c|Pseudopseudohypoparathyroidism|Psychiatric disorder, risk, association with |Reduced expression|Trauma-related bleeding, association with|Plate-like osteoma cutis and medulloblastoma|Migraine, association with|Madelung deformity|Albright hereditary osteodystrophy|Albright hereditary osteodystrophy & pseudohypoparathyroidism|Albright hereditary osteodystrophy with carpal tunnel syndrome|Albright hereditary osteodystrophy with pseudopseudohypoparathyroidism.|Albright hereditary osteodystrophy, association with |Autism |Carpal tunnel syndrome in AHO patients|Essential hypertension, association with|Fasting weight loss, association with|Growth retardation, facial dysmorphism, hypotonia|Hyperinsulinism,-	ICGC,
chrX	114435596	114435596	A	T	intronic	LRCH2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	normal phenotype	-	ICGC,
chr17	64215986	64215986	C	A	intronic	APOH	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21796381	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging	Reduced expression, association with|Reduced expression|Carotid plaques, protection against in SLE, association with|Apolipoprotein H deficiency, association with|Antiphospholipid syndrome, association with|Anti-phospholipid syndrome, and thrombosis, association with.|Altered lipid metabolism / protein folding	COSMIC,ICGC,
chr15	87967996	87967996	G	A	intergenic	AGBL1,LINC00052	unknown	SNV	-	-	-	-	rs777008987	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	Fuchs corneal dystrophy, late-onset ,-	ICGC,
chr22	23231140	23231140	A	C	intronic	IGLL5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25600572	-	MALY-DE|1|241|0.00415	-	-	-	-	COSMIC,ICGC,
chr2	148764654	148764654	G	A	intronic	ORC4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	behavior/neurological phenotype	Immunodeficiency, common variable  |Lymphoproliferative disorder|Meier-Gorlin syndrome	ICGC,
chr4	165793652	165793652	G	A	intergenic	LINC01207,APELA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr21	45636523	45636523	G	A	intergenic	C21orf33,ICOSLG	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,hematopoietic system phenotype	-,-	ICGC,
chr11	10364920	10364920	G	A	ncRNA_intronic	CAND1.11	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN18824544	-	-	-	-	-	-	COSMIC,
chr20	18541378	18541378	C	T	exonic	SEC23B	synonymous	SNV	-	-	0.0061	0.0012	rs77945587	0.0049	0.00599042	0.0003	0.007	-	-	-	Congenital_dyserythropoietic_anemia|not_specified	-	mortality/aging	Anaemia, dyserythropoietic congenital, type II|Anaemia  	ClinVar,
chr15	24723988	24723988	T	A	intergenic	PWRN2,PWRN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr8	5161996	5161996	C	T	intergenic	CSMD1,LOC100287015	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Schizophrenia, association with |Hyperinsulinism|Autism|Attention deficit hyperactivity disorder ,-	ICGC,
chr3	157524934	157524934	G	A	intergenic	C3orf55,SHOX2	unknown	SNV	-	-	-	9.69e-05	rs777459516	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,Schizophrenia	ICGC,
chr13	86681351	86681351	-	CTATCTATCTAC	intergenic	SLITRK6,MIR4500HG	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	behavior/neurological phenotype,-	High myopia and sensorineural deafness,-	ICGC,
chr13	38429186	38429186	T	C	intronic	TRPC4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	cardiovascular system phenotype	Myocardial infarction, reduced risk, association with	ICGC,
chr1	229649600	229649601	AT	-	ncRNA_intronic	LOC101927478	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-	-	ICGC,
chr10	20683027	20683027	C	T	intergenic	PLXDC2,MIR4675	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	nervous system phenotype,-	Pancreatic cancer ,-	ICGC,
chr3	155851240	155851240	C	T	intronic	KCNAB1	unknown	SNV	-	-	-	-	rs144495899	-	0.000199681	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	-	ICGC,
chr18	19347123	19347123	C	T	intronic	MIB1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	integument phenotype	Cardiomyopathy, left ventricular noncompaction|Intellectual disability  	ICGC,
chr6	137013534	137013534	C	A	intronic	MAP3K5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	cardiovascular system phenotype	-	ICGC,
chr2	220895030	220895030	G	A	intergenic	MIR4268,EPHA4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,reproductive system phenotype	-,Amyotrophic lateral sclerosis, reduced disease severity	ICGC,
chr18	67126770	67126770	A	G	intronic	DOK6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-	-	ICGC,
chrX	74979214	74979214	A	C	intergenic	TTC3P1,MAGEE2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,Potential protein deficiency	ICGC,
chr1	67933185	67933185	G	A	intergenic	SERBP1,GADD45A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,-	ICGC,
chr1	104606612	104606612	C	T	intergenic	AMY1A,LOC100129138	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19468734	-	-	-	-	-,-	Obesity, increased risk,-	COSMIC,
chr17	14248443	14248443	C	A	exonic	HS3ST3B1	nonsynonymous	SNV	0.001	0.999	-	-	-	-	-	-	-	COSM4691201	-	-	-	-	-	-	COSMIC,
chrX	49349307	49349307	T	G	exonic	GAGE12C,GAGE12D,GAGE12E,GAGE12H	nonsynonymous	SNV	0.059	0.012	-	-	-	-	-	-	-	COSM3682043	-	-	-	-	-,-,-,-	-,-,-,-	COSMIC,
chr6	130826920	130826920	G	A	intergenic	TMEM200A,SMLR1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538,MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	58097706	58097706	G	A	intergenic	IGFBP7-AS1,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr8	24256606	24256606	G	A	intronic	ADAMDEC1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr15	41262536	41262536	-	TTTT	intergenic	CHAC1,INO80	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,Schizophrenia	ICGC,
chrX	113031731	113031731	G	A	intergenic	LOC101928437,HTR2C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Tourette syndrome, association with|Tardive dyskinesia, association with|Suicide, association with|Reduced promoter activity|Premature ejaculation, association with|Increased promoter activity, association with|Hallucinations, in Alzheimer disease, association|Greater dopamine release|Alcohol use disorder comorbidity, association with|Anxiety, and Appetite disturbances in females, in Alzheimer disease, association with.|Bipolar affective disorder, association with|BMI, association with|Depression, in Alzheimer disease, association with.|Diabetes, association with	ICGC,
chr1	246653003	246653003	A	G	intronic	SMYD3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22607536	-	BRCA-EU|1|569|0.00176	-	-	-	Interaction with smoking, association with|Potential protein deficiency|Various cancers, increased risk, association with	COSMIC,ICGC,
chr5	67185416	67185416	A	-	intergenic	CD180,LOC102467655	unknown	deletion	-	-	-	0.0003	rs531147870	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	-,-	ICGC,
chr13	88913591	88913591	T	C	intergenic	LINC00397,LINC00433	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr13	87966607	87966607	T	C	intergenic	SLITRK6,MIR4500HG	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25735802	-	EOPC-DE|1|202|0.00495	-	-	behavior/neurological phenotype,-	High myopia and sensorineural deafness,-	COSMIC,ICGC,
chr22	47909248	47909248	A	C	intergenic	LOC101927722,LINC00898	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr11	134369708	134369708	G	T	ncRNA_intronic	LOC283177	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr13	25378868	25378868	C	T	intronic	RNF17	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	reproductive system phenotype	-	ICGC,
chr10	87401921	87401921	A	T	intronic	GRID1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5887504	-	LIRI-JP|1|258|0.00388	-	-	skeleton phenotype	Autism spectrum disorder, association with	COSMIC,ICGC,
chr8	10035389	10035389	G	T	intronic	MSRA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging	-	ICGC,
chr20	59597244	59597244	C	A	intergenic	MIR4533,LOC100506470	unknown	SNV	-	-	-	0.0695	rs73145942	-	0.0898562	-	0.123	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr15	32956066	32956066	G	A	intronic	SCG5	unknown	SNV	-	-	-	3.246e-05	rs777710645	-	-	-	-	COSN4761445	-	MALY-DE|1|241|0.00415	-	-	integument phenotype	-	COSMIC,ICGC,
chr18	50851175	50851175	T	G	intronic	DCC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Altered p53 transactivation|Colorectal cancer, risk, association with |Mirror movements, congenital	ICGC,
chr8	9303347	9303347	G	A	intergenic	LOC157273,TNKS	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Autism|Schizophrenia	ICGC,
chr18	64005241	64005241	A	G	intergenic	CDH7,CDH19	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,Tetralogy of Fallot	ICGC,
chr11	26184107	26184107	G	A	intergenic	LUZP2,ANO3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21351044	-	BRCA-EU|1|569|0.00176	-	-	normal phenotype,-	Anorectal malformation,Craniocervical dystonia|Dystonia, primary torsion	COSMIC,ICGC,
chr7	148900891	148900891	A	G	intronic	ZNF282	unknown	SNV	-	-	-	-	rs112324855	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	-	ICGC,
chr16	27087825	27087825	A	T	intergenic	C16orf82,KDM8	unknown	SNV	-	-	-	0.5278	rs34652009	-	0.486621	-	0.493	-	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	-,-	ICGC,
chr2	219232191	219232191	C	T	exonic	CATIP	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM1641832	-	-	-	-	-	-	COSMIC,
chr15	94218912	94218912	C	T	intergenic	RGMA,LOC101927153	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Autism,-	ICGC,
chr13	82967717	82967717	C	T	intergenic	SPRY2,SLITRK1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	mortality/aging,mortality/aging	Cleft lip ,Trichotillomania|Tourette syndrome|Obsessive-compulsive disorder |Attention deficit hyperactivity disorder 	ICGC,
chr3	161966885	161966885	C	T	intergenic	OTOL1,LINC01192	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	121584937	121584937	C	T	intergenic	LOC100505841,SNCAIP	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Parkinson disease 	ICGC,
chr17	79189232	79189232	G	A	intronic	CEP131	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	-	ICGC,
chr11	85989395	85989395	C	A	ncRNA_exonic	MIR6755	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-JP|1|585|0.00171	-	-	-	-	ICGC,
chr10	65813243	65813243	A	G	intergenic	REEP3,ANXA2P3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	ICGC,
chr9	140731455	140731455	G	A	downstream	EHMT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	mortality/aging	Mental retardation|Kleefstra syndrome.|Kleefstra syndrome|Intellectual disability and speech delay|Hypoplastic left heart syndrome|Ganglioma|Breast cancer, reduced risk, association with |Autism spectrum disorder|Autism|9q subtelomeric deletion syndrome	ICGC,
chr6	58343364	58343364	G	A	intergenic	GUSBP4,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	ICGC,
chr10	79545919	79545919	C	A	intergenic	KCNMA1,DLG5	unknown	SNV	-	-	-	-	rs531444514	-	0.000399361	-	-	COSN14816286	-	PAEN-AU|2|52|0.03846	-	-	mortality/aging,behavior/neurological phenotype	Hypertension, association with |Generalized epilepsy and paroxysmal dyskinesia|Autism,Crohn's disease, protection against in females, association with |Inflammatory bowel disease, risk, association with	COSMIC,COSMIC,ICGC,
chr2	60158412	60158412	C	G	intergenic	LOC101927285,MIR4432	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6188941	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr9	93202330	93202330	T	G	intergenic	LOC101927873,LOC340515	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26351434	-	PRAD-UK|1|140|0.00714	-	-	-,-	-,-	COSMIC,ICGC,
chr14	74470632	74470632	A	T	intronic	ENTPD5	unknown	SNV	-	-	-	0.0094	rs116650363	-	0.0127796	-	0.007	COSN21416383	-	BRCA-EU|1|569|0.00176	-	-	hematopoietic system phenotype	-	COSMIC,ICGC,
chr17	67260242	67260242	T	C	intronic	ABCA5	unknown	SNV	-	-	-	3.23e-05	-	-	-	-	-	COSN5419725	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging	-	COSMIC,ICGC,
chr7	53720228	53720228	A	G	intergenic	POM121L12,LINC01446	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8028054	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	COSMIC,ICGC,
chr8	138541343	138541343	G	A	intergenic	KHDRBS3,FAM135B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr16	60001830	60001830	T	G	ncRNA_intronic	LOC101927580	unknown	SNV	-	-	-	0.6074	rs759834	-	0.515974	-	0.471	-	-	LAML-KR|1|205|0.00488	-	-	-	-	ICGC,
chr11	45503298	45503298	C	T	intergenic	LOC399886,CHST1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr20	30472437	30472437	C	T	intronic	TTLL9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397,MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr5	22949982	22949982	-	TTTATTTA	intergenic	CDH12,PRDM9	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|2|67|0.02985	-	-	-,reproductive system phenotype	Lung cancer, susceptibility to, association with,Altered meiotic recombination hotspot usage|Azoospermia by meiotic arrest, association with |Azoospermia, non-obstructive 	ICGC,
chr3	53706723	53706723	C	T	intronic	CACNA1D	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Primary aldosteronism|Potential protein deficiency|Deafness and brachycardia|Autism	ICGC,
chrX	124666723	124666723	C	T	intergenic	LOC100129520,LOC101928495	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr6	152948744	152948744	A	T	intronic	SYNE1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Schizophrenia|Muscular dystrophy, Emery-Dreifuss|Intellectual disability, spastic paraplegia, axon neuropathy & leukoencephalopathy|Cerebellar ataxia|Cardiomyopathy, dilated|Autism spectrum disorder|Autism|Arthrogryposis multiplex congenita with axoglial defects|Arthrogryposis 	ICGC,
chr5	180314215	180314215	G	A	intergenic	ZFP62,BTNL8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	Potential protein deficiency,Altered expression	ICGC,
chr1	241032150	241032150	C	T	exonic	RGS7	unknown	SNV	-	-	-	-	-	-	-	-	-	COSM4548668	-	-	-	-	mortality/aging	Intellectual disability  |Autism spectrum disorder  	COSMIC,COSMIC,COSMIC,
chrX	154523226	154523226	C	A	intronic	CLIC2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23056397	-	MALY-DE|1|241|0.00415	-	-	-	Intellectual disability, behavioural problems & psychosis|Intellectual disability, X-linked 	COSMIC,ICGC,
chr15	47401727	47401727	C	T	intergenic	SQRDL,SEMA6D	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,immune system phenotype	-,Developmental language disorder 	ICGC,
chrX	46992000	46992001	TC	-	intergenic	RGN,NDUFB11	unknown	deletion	-	-	-	0.0004	rs782144609	-	-	-	-	-	-	PRAD-CA|1|308|0.00325,NKTL-SG|1|50|0.02000	-	-	cellular phenotype,-	-,-	ICGC,
chr1	113404089	113404089	-	AAAAAAAA	intergenic	LINC01356,SLC16A1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|3|67|0.04478	-	-	-,-	-,Exercise-induced hyperinsulinism|Erythrocyte lactate transport deficiency	ICGC,
chr3	165551277	165551277	G	A	intronic	BCHE	unknown	SNV	-	-	-	0.0898	rs73028250	-	0.11262	-	0.072	-	-	LAML-KR|1|205|0.00488	-	-	mortality/aging	Serum cholinesterase deficiency|Potential protein deficiency|Obesity and triglyceride levels, association with|Hypocholinesterasaemia|Fronto-temporal dementia, association with|Cholinesterasaemia|Butyrylcholinesterase variant|Butyrylcholinesterase deficiency|Addiction to crack cocaine, association with|Acholinesterasaemia	ICGC,
chr17	73813235	73813235	C	T	intronic	UNK	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	-	-	ICGC,
chr8	10136344	10136344	C	A	intronic	MSRA	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27797695	-	UTCA-FR|1|20|0.05000	-	-	mortality/aging	-	COSMIC,COSMIC,ICGC,
chr13	49707174	49707174	T	A	intronic	FNDC3A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25122964	-	MALY-DE|1|241|0.00415	-	-	reproductive system phenotype	-	COSMIC,ICGC,
chr13	35679966	35679966	T	C	intronic	NBEA	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17743999	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype	Autism, idiopathic|Schizophrenia|Tetralogy of Fallot	COSMIC,ICGC,
chr7	20572386	20572386	G	T	intergenic	ITGB8,ABCB5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	mortality/aging,-	-,Autism spectrum disorder	ICGC,
chr4	132066811	132066811	T	G	intergenic	LOC101927282,PCDH10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,Schizophrenia|Potential protein deficiency	ICGC,
chr12	37993976	37993976	A	T	intergenic	NONE,ALG10B	unknown	SNV	-	-	-	-	rs202152275	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	-,Acquired long QT syndrome, protection against, association|Acquired long QT syndrome	ICGC,
chr10	70307122	70307122	T	A	intergenic	SLC25A16,TET1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22610065	-	BRCA-EU|1|569|0.00176	-	-	-,hematopoietic system phenotype	-,Autism	COSMIC,ICGC,
chr4	186545449	186545449	G	A	exonic	SORBS2	synonymous	SNV	-	-	1.624e-05	3.229e-05	rs532554332	2.471e-05	0.000399361	-	-	COSM3130824	STAD|1|395|0.00253,STES|1|395|0.00253	STAD-US|1|289|0.00346	-	-	-	Schizophrenia	COSMIC,COSMIC,TCGA,ICGC,
chr10	12554282	12554282	G	A	intronic	CAMK1D	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-	-	ICGC,
chr19	16314374	16314374	C	T	exonic	AP1M1	synonymous	SNV	-	-	-	-	-	-	-	-	-	-	HNSC|1|512|0.00195	-	-	-	mortality/aging	-	TCGA,
chr1	102727165	102727165	G	A	intergenic	OLFM3,COL11A1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16069986	-	PACA-CA|1|268|0.00373	-	-	-,mortality/aging	-,Stickler syndrome, type 2|Stickler syndrome|Robin sequence |Osteoarthritis, early-onset|Marshall syndrome|Marshall / Stickler syndrome|Lumbar disc herniation, association with|Fibrochondrogenesis|Deafness  	COSMIC,COSMIC,ICGC,
chr3	43815086	43815086	C	T	intergenic	ABHD5,MIR138-1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Chanarin-Dorfman syndrome,-	ICGC,
chr22	27059177	27059177	G	A	ncRNA_intronic	MIAT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,PBCA-US|1|186|0.00538	-	-	-	Myocardial infarction, association with 	ICGC,
chr19	8385731	8385731	G	T	intronic	NDUFA7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr15	39631533	39631533	C	A	intergenic	C15orf54,THBS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1176368	-	-	-	-	-,integument phenotype	-,Small for gestational age, increased risk, association with|Pulmonary hypertension|Heart attack, association with|Coronary artery disease, association with	COSMIC,
chr5	38859365	38859365	G	A	intronic	OSMR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype	Amyloidosis, primary cutaneous	ICGC,
chr3	191807600	191807600	T	G	intergenic	LINCR-0002,FGF12	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,behavior/neurological phenotype	-,-	ICGC,
chr5	176416212	176416212	G	A	intronic	UIMC1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN18899065	-	-	-	-	mortality/aging	Reduced ubiquitin binding	COSMIC,
chr4	100727412	100727412	G	A	intergenic	MTTP,DAPP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,hematopoietic system phenotype	Total cholesterol levels, association with|Reduced transcriptional activity|Nonalcoholic fatty liver disease, association with|Microsomal triglyceride transfer protein deficiency, mild|Lower plasma LDL cholesterol, association with|Increased malondialdehyde-modified low-density lipoprotein levels, association with|Hypercholesterolemia, modifier of|Diabetes, type 2, association with|Diabetes, MODY |Abetalipoproteinaemia,Autism	ICGC,
chr14	27962227	27962227	C	T	intergenic	LOC101927081,LINC00645	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr6	170395713	170395713	G	A	intergenic	LINC00574,LOC154449	unknown	SNV	-	-	-	-	rs763504999	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	-,-	ICGC,
chr10	132996362	132996362	C	T	intronic	TCERG1L	unknown	SNV	-	-	-	3.228e-05	-	-	-	-	-	COSN6528200	-	ESAD-UK|1|301|0.00332,PBCA-DE|1|499|0.00200	-	-	-	-	COSMIC,ICGC,
chr12	91466608	91466608	A	G	intergenic	KERA,LUM	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21953141	-	BRCA-UK|1|141|0.00709,BRCA-EU|1|569|0.00176	-	-	hematopoietic system phenotype,integument phenotype	Cornea plana |Cornea plana 2,Amyotrophic lateral sclerosis |Corneal dystrophy, posterior amorphous|High myopia, association with	COSMIC,ICGC,
chr19	15820004	15820004	T	G	intergenic	CYP4F12,OR10H2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8343745	-	PRAD-UK|1|140|0.00714	-	-	digestive/alimentary phenotype,-	Altered gene expression|Altered substrate specificity ,-	COSMIC,ICGC,
chr11	38102752	38102752	A	C	intergenic	C11orf74,LOC103312105	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr8	20652401	20652401	C	T	intergenic	LZTS1-AS1,LOC286114	unknown	SNV	-	-	-	3.23e-05	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,-	-,-	ICGC,
chr11	23114753	23114753	C	A	intergenic	CCDC179,MIR8054	unknown	SNV	-	-	-	-	rs567361026	-	0.000199681	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr9	132249403	132249403	T	C	intergenic	LOC100506119,LINC00963	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7557504	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	COSMIC,ICGC,
chr5	101494837	101494837	C	T	intergenic	ST8SIA4,SLCO4C1	unknown	SNV	-	-	-	0.0002	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|2|183|0.01093	-	-	mortality/aging,-	-,-	ICGC,
chr12	105544637	105544637	G	A	intronic	KIAA1033	unknown	SNV	-	-	-	0.0053	rs72487517	-	0.0131789	-	-	-	-	LAML-KR|1|205|0.00488	-	-	-	Intellectual disability, nonsyndromic	ICGC,
chr19	51741880	51741880	A	G	intronic	CD33	unknown	SNV	-	-	-	3.23e-05	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	hematopoietic system phenotype	Alzheimer disease, increased risk, association with|Alzheimer disease risk, association with|Altered expression levels|Acute myeloid leukaemia, relapse, increased risk	ICGC,
chr14	97469037	97469037	C	A	intergenic	LINC00618,LOC101929241	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23098424	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	COSMIC,ICGC,
chr1	12984250	12984250	G	T	intergenic	PRAMEF8,PRAMEF6	unknown	SNV	-	-	-	0.0009	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr5	146450834	146450834	C	T	intronic	PPP2R2B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Alzheimer disease, association with |Spinocerebellar ataxia 12	ICGC,
chr2	137766038	137766038	G	A	intronic	THSD7B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Autism spectrum disorder	ICGC,
chr1	101566602	101566602	T	C	intergenic	LOC102606465,LOC101928370	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-,-	-,-	ICGC,
chr10	68961523	68961523	G	A	intronic	CTNNA3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Tourette syndrome |Sinus venosus atrial septal defect|Neural tube defects|Cervical artery dissection|Autism spectrum disorder |Attention deficit hyperactivity disorder |Arrhythmogenic right ventricular cardiomyopathy|Alzheimer disease, increased risk, association with |Adenocarcinoma	ICGC,
chr17	74906250	74906250	A	G	intronic	MGAT5B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-UK|1|140|0.00714	-	-	homeostasis/metabolism phenotype	-	ICGC,
chr4	182947512	182947512	G	A	intergenic	LINC00290,MGC45800	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr10	106175820	106175820	G	A	intronic	CCDC147	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr1	158552578	158552578	C	T	intergenic	OR10X1,OR10Z1	unknown	SNV	-	-	-	3.276e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Olfactory receptor deficiency,Mean cell haemoglobin concentration, association with	ICGC,
chr9	75464864	75464864	T	A	intergenic	TMC1,LOC101927258	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BOCA-UK|1|130|0.00769	-	-	integument phenotype,-	Nonsyndromic deafness, autosomal recessive|Hearing loss.|Hearing loss, nonsyndromic, autosomal recessive|Hearing loss|DFNB7/B11 deafness|DFNA36 hearing loss, association with|Deafness, non-syndromic, autosomal recessive|Deafness, non-syndromic, autosomal dominant|Deafness, non-syndromic |Deafness,-	ICGC,
chr9	17981485	17981485	C	A	intergenic	SH3GL2,ADAMTSL1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23631962	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr6	84271391	84271391	G	A	intronic	SNAP91	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr11	57383165	57383165	A	G	downstream	SERPING1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CN|1|65|0.01538	-	-	cardiovascular system phenotype	Vasculitic neuropathy|Macular degeneration, age related, association with|Angioneurotic oedema|Angioedema, hereditary.|Angioedema, hereditary	ICGC,
chr15	91663245	91663245	C	T	intronic	SV2B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging	Autism	ICGC,
chr4	34744692	34744692	T	C	intergenic	NONE,ARAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2025980	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr3	162242794	162242794	C	T	intergenic	OTOL1,LINC01192	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr18	13905978	13905978	C	T	intronic	MC2R	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Glucocorticoid deficiency without pigmentation|Glucocorticoid deficiency |Cushing syndrome|Androgen secretion, association with|Adrenal hypoplasia, salt-losing|ACTH responsiveness, association with|ACTH hypersensitivity syndrome	ICGC,
chr17	49634602	49634602	A	T	intergenic	LOC440446,CA10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,Schizophrenia	ICGC,
chr7	80893408	80893408	G	A	intergenic	SEMA3C,HGF	unknown	SNV	-	-	-	-	rs536996653	-	0.000399361	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,mortality/aging	-,Systemic sclerosis with end-stage lung disease, assoc with|Lymphoedema |Hearing loss, non-syndromic|Breast cancer, earlier onset, association with	ICGC,
chr5	53896945	53896945	-	TATC	intergenic	SNX18,LOC102467080	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr11	80319372	80319372	C	G	intergenic	TENM4,LOC101928944	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	mortality/aging,-	-,-	ICGC,
chr12	131446223	131446223	T	C	intronic	GPR133	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr6	91511160	91511160	T	A	intergenic	MAP3K7,MIR4643	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9915909	-	RECA-EU|1|422|0.00237	-	-	mortality/aging,-	-,-	COSMIC,ICGC,
chr2	130305155	130305155	G	T	intergenic	LOC151121,LOC389033	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5480756	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr11	7167224	7167224	G	A	intergenic	RBMXL2,SYT9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	Impaired spermatogenesis ,-	ICGC,
chr3	62671179	62671179	T	G	intronic	CADPS	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	mortality/aging	-	ICGC,
chr20	21552069	21552069	-	TCAC	ncRNA_intronic	LOC101929625	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	-	ICGC,
chr7	87307802	87307802	A	C	intronic	ABCB1,RUNDC3B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	Lung cancer, suceptibility association with |Major adverse cardiovascular events in patients on clopidogrel, association with|Major depressive disorder, association with|Myelodysplasia, disease prorgression, association with.|Oral cleft malformations, association with|Osteonecrosis of the femoral head, association with|P-glycoprotein deficiency|Parkinson disease  |Parkinson disease association with pesticide exposure|Parkinson disease, association with|Reduced survival, in acute myeloid leukaemia, association with.|Reduced transcriptional activity|Lung cancer, lower risk, association with|Lower P-glycoprotein level, association with|Inflammatory bowel disease, association with|Acute lymphoblastic leukaemia, association with |Altered transport activity|Cancer risk, association with|Cannabis dependence, association with|Cleft lip/palate, increased risk, association with|Colchicine unresponsiveness in FMF, association with|Colorectal cancer |Increased level of risperidone active moiety|Gingival overgrowth, cyclosporine induced, association with|Gastric cancer, association with|Colorectal cancer, association with|Colorectal cancer risk, association with,Schizophrenia	ICGC,
chr5	151985838	151985838	C	T	intergenic	NMUR2,LOC101927134	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	integument phenotype,-	-,-	ICGC,
chr2	31332340	31332340	A	G	intronic	GALNT14	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr7	51139112	51139112	C	T	UTR3	COBL	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19099439	-	CLLE-ES|1|510|0.00196	-	-	nervous system phenotype	-	COSMIC,ICGC,
chr3	183206480	183206480	T	A	UTR3	KLHL6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	hematopoietic system phenotype	Autism spectrum disorder	ICGC,
chr9	82923481	82923481	T	A	intergenic	LOC101927477,TLE1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9286069	-	RECA-EU|1|422|0.00237	-	-	-,-	-,-	COSMIC,ICGC,
chr2	186110962	186110962	G	A	intergenic	ZNF804A,LOC101927196	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Neurodevelopmental disease|Reduced cortical gray matter thickness|Schizophrenia and bipolar disorder, association with|Schizophrenia, association with  ,-	ICGC,
chr13	66815658	66815658	C	A	intergenic	NONE,PCDH9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr18	70757886	70757886	C	A	intergenic	NETO1,LOC400655	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	behavior/neurological phenotype,-	-,-	ICGC,
chr17	36397972	36397972	C	T	ncRNA_intronic	LOC440434	unknown	SNV	-	-	-	3.227e-05	rs368616422	-	-	-	-	COSN6103321	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr4	8460186	8460186	C	-	intronic	TRMT44	unknown	deletion	-	-	-	-	-	-	-	-	-	COSN18775025	-	-	-	-	-	Partial epilepsy with pericentral spikes	COSMIC,
chr18	39270878	39270878	G	A	intergenic	KC6,PIK3C3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,Intellectual disability  |Bipolar disorder/schizophrenia association with|Anti-Ro & anti-Sm antibodies, in lupus, in African-Americans, association	ICGC,
chr13	114788219	114788219	G	A	intronic	RASA3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	-	ICGC,
chr13	112890201	112890201	G	C	intergenic	LINC01070,LOC101928730	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8775107	-	OV-AU|1|93|0.01075	-	-	-,-	-,-	COSMIC,ICGC,
chr1	172107505	172107505	A	G	ncRNA_exonic	DNM3OS	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	-	ICGC,
chr7	28248066	28248066	-	CCAC	ncRNA_intronic	JAZF1-AS1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	-	ICGC,
chr3	181122199	181122199	C	T	ncRNA_intronic	SOX2-OT	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7839002	-	PACA-AU|1|391|0.00256	-	-	-	-	COSMIC,ICGC,
chr4	152320221	152320221	T	C	intergenic	PRSS48,FAM160A1	unknown	SNV	-	-	-	0.0010	rs557074240	-	0.00159744	-	0.007	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	Potential protein deficiency,-	ICGC,
chr7	50430826	50430826	G	A	intronic	IKZF1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Systemic lupus erythematosus, association with	ICGC,
chr4	169010906	169010906	G	A	intergenic	SPOCK3,ANXA10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	27062632	27062632	C	T	intergenic	CDH9,LINC01021	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr3	117087019	117087019	-	TACACACA	intergenic	LINC00901,IGSF11	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr7	113169878	113169878	G	A	intergenic	LINC00998,PPP1R3A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,growth/size phenotype	-,Insulin resistance, association with|Insulin resistance|Glycemia variation, association with	ICGC,
chr1	61858412	61858412	G	A	intronic	NFIA	unknown	SNV	-	-	-	0.3108	rs2474389	-	0.367013	-	0.333	-	-	ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488	-	-	mortality/aging	Autism |Bipolar disorder & depression|Central nervous system malformations|Cerebellar hypoplasia|Chromosome 1p32-p31 deletion syndrome|Hypoplastic corpus callosum, craniofacial abnormalities & urinary tract defects	ICGC,
chr8	134004615	134004615	T	C	intronic	TG	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	hematopoietic system phenotype	Thyroid dyshormonogenesis|Thyroid cancer, increased risk, association with|Thyroglobulin retention & hypothyroidism|Potential protein deficiency|Hypothyroidism|Goitre, simple|Goitre, dyshormonogenetic|Autoimmune thyroid disease, association with|Goitre with hypothyroidism|Goitre with hypothyroidism.|Goitre, adenomatous|Goitre, congenital	ICGC,
chr2	126080990	126080990	C	T	intergenic	CNTNAP5,GYPC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Autism,Glycophorin C variant|Gerbich-negative blood group|Elliptocytosis|Duch blood group	ICGC,
chr4	118594505	118594505	A	T	intergenic	TRAM1L1,NDST3	unknown	SNV	-	-	-	0.0005	rs542423282	-	0.000199681	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,mortality/aging	-,-	ICGC,
chr13	89462327	89462327	C	T	intergenic	LINC00433,LINC00353	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,-	-,-	ICGC,
chrX	79053871	79053871	A	G	intergenic	ITM2A,TBX22	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8194878	-	PACA-CA|1|268|0.00373	-	-	-,mortality/aging	-,Cleft palate, non-syndromic|Cleft palate and ankyloglossia, association with|Cleft palate and ankyloglossia|Cleft palate|Cleft lip and palate|Ankyloglossia |Abruzzo-Erickson syndrome	COSMIC,ICGC,
chr1	96057967	96057967	G	A	intergenic	LOC100996635,LOC101928241	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	183031230	183031230	T	A	intronic	PDE1A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Cardiovascular malformations	ICGC,
chrX	104126037	104126037	A	C	intronic	IL1RAPL2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr3	85692015	85692015	G	A	intronic	CADM2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr4	104439509	104439509	C	A	intergenic	CENPE,TACR3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	EOPC-DE|1|202|0.00495	-	-	mortality/aging,behavior/neurological phenotype	Cancer  ,Kallmann syndrome|Hypogonadotropic hypogonadism	ICGC,
chr1	73441231	73441231	T	A	intergenic	NEGR1,LINC01360	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	behavior/neurological phenotype,-	Obesity, association with|Dyslexia |Body mass index, association with|Attention deficit hyperactivity disorder,-	ICGC,
chr3	94281055	94281055	A	T	intergenic	NSUN3,LINC00879	unknown	SNV	-	-	-	0.3297	rs6798825	-	0.327276	-	0.312	-	-	ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488	-	-	-,-	-,-	ICGC,
chr6	139427968	139427968	A	G	intergenic	ABRACL,HECA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr4	82001843	82001843	T	G	intergenic	BMP3,PRKG2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	skeleton phenotype,skeleton phenotype	Skeletal defects, in chromosome 4q21 deletion syndrome,Growth restriction, in chromosome 4q21 deletion syndrome	ICGC,
chr8	85605269	85605269	T	G	intronic	RALYL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr2	83640925	83640925	A	T	intergenic	LOC1720,FUNDC2P2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	UTCA-FR|1|20|0.05000	-	-	-,-	-,-	ICGC,
chr2	129388325	129388325	G	A	intergenic	HS6ST1,LOC101927881	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23107436	-	MALY-DE|1|241|0.00415	-	-	mortality/aging,-	Potential protein deficiency|Kallmann syndrome|Hypogonadotropic hypogonadism, idiopathic,-	COSMIC,ICGC,
chr1	60821795	60821795	C	T	intergenic	C1orf87,LOC101926964	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	92927741	92927741	-	CTTCTTTC	intergenic	CCSER1,GRID2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,mortality/aging	-,Cerebellar ataxia & tonic upgaze|Cerebellar ataxia and atrophy|Schizophrenia|Spastic paraplegia, complicated	ICGC,
chr8	25767751	25767751	C	T	intronic	EBF2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	-	ICGC,
chr13	70195871	70195871	A	T	intergenic	LINC00550,KLHL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,behavior/neurological phenotype	-,Breast cancer, increased risk  	ICGC,
chr8	13283261	13283261	A	C	intronic	DLC1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging	Congenital heart disease 	ICGC,
chr17	39312936	39312936	C	T	intergenic	KRTAP4-5,KRTAP4-4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr13	83675708	83675708	C	T	intergenic	NONE,SLITRK1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,mortality/aging	-,Trichotillomania|Tourette syndrome|Obsessive-compulsive disorder |Attention deficit hyperactivity disorder 	ICGC,
chr2	189608446	189608446	G	A	intronic	DIRC1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr1	69133834	69133834	A	T	intergenic	DEPDC1-AS1,LRRC7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-,mortality/aging	-,-	ICGC,
chr14	82514894	82514894	T	C	intergenic	LOC101928559,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6260612	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr9	1971255	1971255	C	A	intergenic	DMRT2,SMARCA2	unknown	SNV	-	-	-	0.0005	rs530591996	-	0.000199681	-	-	-	-	PACA-CA|1|268|0.00373	-	-	mortality/aging,integument phenotype	-,Short stature|Schizophrenia, association with   |Nicholaides-Baraitser syndrome|Multiple congenital anomalies  |Lung cancer, association with|Intellectual disabilty, short stature and dysmorphisms|Hepatocellular carcinoma, in smokers, association with.|Hepatocellular carcinoma, association with.|Developmental delay & dysmorphic features|Developmental delay & autistic features|Developmental delay  |Coffin-Siris syndrome	ICGC,
chr3	156030524	156030524	A	C	intronic	KCNAB1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging	-	ICGC,
chr2	81930000	81930001	AC	-	intergenic	LOC100507201,LOC1720	unknown	deletion	-	-	-	-	-	-	-	-	-	COSN23200973	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	COSMIC,ICGC,
chr18	4751225	4751225	G	T	intergenic	DLGAP1,C18orf42	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24412563	-	UTCA-FR|1|20|0.05000	-	-	-,-	Schizophrenia  ,-	COSMIC,COSMIC,ICGC,
chr5	104602961	104602961	T	C	intergenic	RAB9BP1,LOC102467213	unknown	SNV	-	-	-	0.0018	rs186693374	-	0.000599042	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr13	45540041	45540041	C	T	exonic	NUFIP1	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM5376772	-	-	-	-	-	-	COSMIC,
chr4	63687515	63687515	G	A	intergenic	LPHN3-AS1,TECRL	unknown	SNV	-	-	-	3.232e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr20	7184862	7184862	C	A	ncRNA_intronic	LINC01428	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23436022	-	EOPC-DE|1|202|0.00495	-	-	-	-	COSMIC,ICGC,
chrX	118016270	118016270	C	T	downstream	LINC01285	unknown	SNV	-	-	-	9.332e-05	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-	-	ICGC,
chr16	60001621	60001621	A	T	ncRNA_intronic	LOC101927580	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25694564	-	EOPC-DE|1|202|0.00495	-	-	-	-	COSMIC,ICGC,
chr1	61049323	61049323	A	G	intergenic	C1orf87,LOC101926964	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	21913427	21913427	A	G	ncRNA_intronic	LOC645949	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr3	93916372	93916372	C	T	intergenic	NSUN3,LINC00879	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr20	39668546	39668546	-	A	intronic	TOP1	unknown	insertion	-	-	-	0.0039	-	-	-	-	-	-	-	PEME-CA|1|112|0.00893	-	-	mortality/aging	Autism	ICGC,
chr1	104932177	104932177	TC	AA	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr2	183262854	183262854	A	-	intronic	PDE1A	unknown	deletion	-	-	-	6.657e-05	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312,LIRI-JP|1|258|0.00388	-	-	-	Cardiovascular malformations	ICGC,
chr6	89114770	89114770	C	T	intergenic	CNR1,LOC101928936	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|3|183|0.01639	-	-	integument phenotype,-	Ulcerative colitis, reduced risk, association with|Sweet taste threshold, association with|Schizophrenia, hebephrenic, association with|Procedural learning, higher performance, association with|Post-traumatic stress disorder, association with.|Neuroticism, association with|IV drug dependence, susceptibility to, association|Increased waist circumference in obese men, association|Impulsive behaviour, association with|Huntington disease, age at onset, association with|Abdominal adiposity in obese men, association with |Altered function|Altered HDL cholesterol levels|Anorexia and bulimia nervosa, association with|Anorexia nervosa, binging/purging, association|Autism spectrum disorder|Cocaine dependence, association with|Colorectal cancer outcome,-	ICGC,
chr14	62951259	62951259	G	T	intergenic	LINC00644,KCNH5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,behavior/neurological phenotype	-,Epileptic encephalopathy 	ICGC,
chr18	69607580	69607580	T	C	intergenic	LOC100505776,CBLN2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,behavior/neurological phenotype	-,-	ICGC,
chr3	162254954	162254954	A	T	intergenic	OTOL1,LINC01192	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr1	14295408	14295408	G	C	intergenic	PRDM2,KAZN	unknown	SNV	-	-	-	0.0677	rs28478311	-	0.109026	-	0.167	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,hematopoietic system phenotype	Bone mineral density, association with ,-	ICGC,
chr4	94934466	94934466	T	C	intergenic	ATOH1,SMARCAD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,mortality/aging	-,Capecitabine sensitivity, association with	ICGC,
chr17	30257932	30257936	ATTTT	-	intergenic	UTP6,SUZ12	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|4|67|0.05970	-	-	-,mortality/aging	-,-	ICGC,
chr1	95690063	95690063	-	C	intronic	TMEM56-RWDD3	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-	-	ICGC,
chr7	135537363	135537363	G	C	intergenic	FAM180A,LUZP6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	ICGC,
chr2	44578592	44578592	T	A	intronic	PREPL	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27827640	-	UTCA-FR|1|20|0.05000	-	-	-	PREPL deficiency|Potential protein deficiency|Hypotonia-Cystinuria syndrome|Growth failure, neuromuscular features, cleft palate & genital abnormalities	COSMIC,COSMIC,ICGC,
chr19	54610321	54610321	C	T	UTR3	TFPT	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26998421	-	-	-	-	-	-	COSMIC,
chr15	84637583	84637583	G	A	intronic	ADAMTSL3	unknown	SNV	-	-	-	0.0005	rs556694573	-	0.000599042	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-	Glaucoma, primary congenital|Schizophrenia, reduced risk, association with 	ICGC,
chr18	13387196	13387196	C	T	intronic	LDLRAD4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Schizophrenia  	ICGC,
chr15	62706362	62706362	A	-	intergenic	MIR6085,MGC15885	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr5	147267259	147267259	G	T	intergenic	SCGB3A2,C5orf46	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	UGRP1 plasma levels, association with|Graves' disease|Graves disease, susceptibility to, association|Graves disease, increased risk|Asthma, increased risk, association with,-	ICGC,
chr2	180249670	180249670	T	A	intergenic	SESTD1,ZNF385B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7149016	-	PACA-AU|1|391|0.00256	-	-	-,-	-,Mental retardation  	COSMIC,ICGC,
chr5	22331432	22331432	C	T	intronic	CDH12	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-	Lung cancer, susceptibility to, association with	ICGC,
chr22	18152477	18152477	C	T	intronic	BCL2L13	unknown	SNV	-	-	-	3.23e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr14	26548730	26548730	C	T	intergenic	STXBP6,NOVA1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,-	ICGC,
chr6	52288836	52288836	C	T	exonic	EFHC1	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM291997	COAD|1|367|0.00272,COADREAD|1|489|0.00204	-	-	-	behavior/neurological phenotype	Potential protein deficiency|Myoclonic epilepsy, juvenile|Intractable epilepsy of infancy|Idiopathic epilepsy, generalised	COSMIC,TCGA,
chr13	90758092	90758092	G	A	ncRNA_intronic	LINC00559	unknown	SNV	-	-	-	3.231e-05	rs369615115	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr1	169387286	169387286	C	T	intronic	CCDC181	unknown	SNV	-	-	-	0.0369	rs79758658	-	0.0682907	-	0.065	-	-	LAML-KR|1|205|0.00488	-	-	-	-	ICGC,
chrX	103781493	103781493	G	A	intergenic	ESX1,IL1RAPL2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	cardiovascular system phenotype,-	-,-	ICGC,
chr8	105733081	105733081	G	A	intergenic	LRP12,ZFPM2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Atrial septal defect & gonadal dysgenesis|Diaphragmatic hernia, congenital|Double outlet right ventricle |Gonadal dysgenesis |Reduced activity|Tetralogy of Fallot 	ICGC,
chr10	26068958	26068958	G	T	intergenic	LINC00836,LOC101929073	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr2	188027192	188027192	A	G	intergenic	ZSWIM2,CALCRL	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21485831	-	BRCA-EU|1|569|0.00176	-	-	-,integument phenotype	-,-	COSMIC,ICGC,
chr12	120318132	120318132	C	T	intergenic	CIT,CCDC64	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	mortality/aging,-	-,-	ICGC,
chr15	97535987	97535987	C	T	intergenic	SPATA8,LOC101927286	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	Potential protein deficiency,-	ICGC,
chr22	44311731	44311731	G	A	intergenic	PNPLA5,PNPLA3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,homeostasis/metabolism phenotype	-,Insulin resistance and baseline viral load in HCV genotype 2, association with|Liver damage, early-onset, association with|Liver fat content, association with|Liver fibrosis in nonalcoholic fatty liver disease, association|Liver injury, in morbid obesity, association with|Nonalcoholic fatty liver disease, association with|Obesity, association with|Progressive liver fibrosis, increased risk|Reduced fasting serum triglyceride and cholesterol levels|Reduced survival in male primary sclerosing cholangitis patients, assoc. with|Steatosis severity, association with.|Steatosis, fibrosis severity, and cirrhosis (in lean patients), in hereditary haemochromatosis, association with.|Increased liver fat, association with|Histologic nonalcoholic fatty liver disease|Alcoholic liver cirrhosis and elevated aminotransferase levels|Alcoholic liver disease, association with|Altered liver enzyme values|Cirrhosis, nonalcoholic steatohepatitis-related|Cirrhosis, nonalcoholic steatohepatitis-related?|Decreased adiponectin levels, association with|Decreased total cholesterol levels|Diabetes mellitus, type 2, association with|Disrupted triglyceride hydrolysis, association with|Elevated alanine transaminase & lower HDL cholesterol levels, association with|Fatty liver disease, in obese children and adolescents, association|Hepatocellular carcinoma in alcoholic cirrhosis patients	ICGC,
chrX	133681028	133681028	C	A	upstream	MIR424,MIR503,MIR503HG	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-,-,-	-,-,-	ICGC,
chr13	77393554	77393554	C	T	intergenic	LMO7DN,KCTD12	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	ICGC,
chr12	86449367	86449367	G	A	intronic	MGAT4C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Prostate cancer, increased risk |Mental retardation	ICGC,
chr8	145731401	145731401	C	T	exonic	GPT	synonymous	SNV	-	-	0	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	Glutamic-pyruvate transaminase deficiency	ICGC,
chr17	1692081	1692081	G	A	intronic	SMYD4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr1	16761912	16761912	T	A	intronic	SPATA21	unknown	SNV	-	-	-	0.1147	rs72638040	-	0.116613	-	0.181	-	-	LAML-KR|1|205|0.00488	-	-	-	Autism spectrum disorder  |Potential protein deficiency	ICGC,
chr3	108569220	108569220	C	T	intronic	TRAT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	hematopoietic system phenotype	-	ICGC,
chr5	72929445	72929445	A	T	intronic	ARHGEF28	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	Amyotrophic lateral sclerosis  	ICGC,
chrX	104256419	104256419	-	T	intronic	IL1RAPL2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	-	ICGC,
chr14	37383792	37383792	C	T	intronic	SLC25A21	unknown	SNV	-	-	-	0.7555	rs712395	-	0.673922	-	0.696	-	-	LAML-KR|1|205|0.00488	-	-	hematopoietic system phenotype	Synpolydactyly	ICGC,
chr3	133105520	133105520	G	T	intronic	TMEM108	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-UK|1|140|0.00714	-	-	-	-	ICGC,
chr20	53282747	53282747	G	A	intergenic	DOK5,LINC01441	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr2	199621298	199621298	C	T	intergenic	LOC101927619,SATB2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Toriello-Carey syndrome|Pierre Robin sequence  |Intellectual disability, nonsyndromic|Dentofacial abnormalities|Cleft palate, osteoporosis and cognitive defects|Cleft palate|Autism spectrum disorder	ICGC,
chr7	38106344	38106344	G	A	intergenic	EPDR1,STARD3NL	unknown	SNV	-	-	-	0.0027	rs73126845	-	0.00219649	-	0.014	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	94431606	94431606	C	T	intergenic	GCLM,ABCA4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	mortality/aging,vision/eye phenotype	Myocardial infarction, association with,Retinitis pigmentosa, autosomal dominant|Retinitis pigmentosa, autosomal dominant ?|Retinitis pigmentosa, autosomal recessive|Retinitis pigmentosa, autosomal recessive ?|Retinitis pigmentosa, autosomal recessive.|Retinitis pigmentosa-like dystrophy|Retinitis pigmentosa|Retinal dystrophy |Retinal disease |Retinal degeneration|PRPH2-associated macular dystrophy modifier|Potential protein deficiency|Retinitis pigmentosa, X-linked.|Retinitis pigmentosa?|Usher syndrome|Stargardt disease.|Stargardt disease, reduced risk|Stargardt disease, late-onset|Stargardt disease, association with|Stargardt disease and macular degeneration|Stargardt disease 2/3|Stargardt disease 1|Stargardt disease / cone-rod dystrophy|Stargardt disease|Retinopathy  |Retinitis pigmentosa.|Maculopathy, atypical|Bilateral choroidal neovascularization.|Cone-rod dystrophy with extensive atrophy|Cone-rod dystrophy|Cone-rod degeneration |Cone rod dystrophy|Cone dystrophy, autosomal recessive|Cone dystrophy / cone-rod dystrophy, autosomal recessive|Cone dystrophy|Chorioretinal atrophy|Choriocapillaris dystrophy, generalised|Bull's eye maculopathy.|Bull's eye maculopathy|Cone-rod dystrophy, autosomal recessive|Cone-rod dystrophy?|Cone-rod dystrophy.|Macular dystrophy.|Macular dystrophy, early-onset|Macular dystrophy, concentric annular|Macular dystrophy|Macular degeneration, age-related, reduced risk|Macular degeneration, age-related, association with|Macular degeneration, age related|Leber congenital amaurosis/Retinitis pigmentosa, autosomal recessive ?|Leber congenital amaurosis ?|Leber congenital amaurosis|Fundus flavimaculatus, late onset|Fundus flavimaculatus	ICGC,
chr10	68511773	68511773	T	G	intronic	CTNNA3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	Tourette syndrome |Sinus venosus atrial septal defect|Neural tube defects|Cervical artery dissection|Autism spectrum disorder |Attention deficit hyperactivity disorder |Arrhythmogenic right ventricular cardiomyopathy|Alzheimer disease, increased risk, association with |Adenocarcinoma	ICGC,
chr7	73344826	73344826	C	T	intergenic	WBSCR28,ELN	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,Subarachnoid haemorrhage, association with |Supravalvular aortic stenosis|Supravalvular aortic stenosis in Williams-Beuren syndrome|Vascular stenosis|Williams-Beuren syndrome features |Williams-Beuren syndrome, predisp. to, association with|Pulmonary valve stenosis|Peripheral pulmonary artery stenosis|Atrial septal defect and aortic dilation|Cardiomyopathy & pulmonary emphysema|Chronic obstructive pulmonary disease|Cutis laxa|Inguinal hernia, association with|Modifies self assembly and mechanical properties of elastic matrix	ICGC,
chr15	27397393	27397393	C	T	intronic	GABRG3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Potential protein deficiency	ICGC,
chr8	39453281	39453281	G	A	intronic	ADAM18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	-	ICGC,
chr7	88962796	88962796	T	C	exonic	ZNF804B	nonsynonymous	SNV	0.021	0.994	-	-	-	-	-	-	-	-	THCA|1|504|0.00198	-	-	-	-	-	TCGA,
chr3	57471738	57471738	G	T	intronic	DNAH12	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	NKTL-SG|1|50|0.02000	-	-	-	-	ICGC,
chr12	18000074	18000074	C	T	intergenic	MIR3974,RERGL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,Colorectal cancer 	ICGC,
chr14	80189654	80189654	T	C	intronic	NRXN3	unknown	SNV	-	-	-	3.232e-05	-	-	-	-	-	COSN1660860	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging	Alcohol dependence, association with|Autism spectrum disorder  	COSMIC,ICGC,
chr9	36952673	36952673	C	A	intronic	PAX5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19377519	-	-	-	-	mortality/aging	Acute lymphoblastic leukaemia|Autism|Schizophrenia	COSMIC,
chr22	23759496	23759496	A	-	intergenic	ZDHHC8P1,LOC101929374	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr1	211824738	211824738	G	A	intergenic	SLC30A1,NEK2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17953490	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,-	-,Retinitis pigmentosa	COSMIC,ICGC,
chr3	173457365	173457365	T	C	intronic	NLGN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging	Microcephaly, seizure disorder & intellectual disability |Autism spectrum disorder  |Autism|Anorectal malformation	ICGC,
chr8	40555219	40555219	C	T	intronic	ZMAT4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr7	145465947	145465947	G	A	intergenic	TPK1,CNTNAP2	unknown	SNV	-	-	-	-	rs558981770	-	0.000199681	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	Thiamine pyrophosphokinase deficiency|Leigh-like disease|Colorectal cancer, increased risk, association with |Autism,Gilles de la Tourette syndrome|Intellectual disability  |Learning disability & speech problems|Mental retardation |Mental retardation, Pitt-Hopkins-like|Multiple congenital anomalies  |Seizures, neonatal |Speech delay  |Stuttering |Epileptic encephalopathy  |Epilepsy and schizophrenia|Autism|Autism spectrum disorder |Autism spectrum disorder, modifier of|Childhood apraxia of speech|Cortical dysplasia-focal epilepsy syndrome|Developmental and/or speech and/or behavioural problems|Developmental delay  |Developmental delay & dysmorphic features|Dyslexia 	ICGC,
chr19	14672697	14672697	C	G	intronic	TECR	unknown	SNV	-	-	-	0.4017	rs12461318	-	0.299521	-	0.290	-	-	ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488	-	-	-	Mental retardation, non-syndromic, autosomal recessive	ICGC,
chr14	86937731	86937731	T	C	intergenic	LOC101928767,LOC283585	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	ICGC,
chr3	65854725	65854725	G	A	intronic	MAGI1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Schizophrenia  |Bipolar affective disorder  	ICGC,
chr3	161613802	161613802	C	T	intergenic	OTOL1,LINC01192	unknown	SNV	-	-	-	0.0007	rs562365250	-	-	-	-	-	-	SKCA-BR|2|100|0.02000	-	-	-,-	-,-	ICGC,
chr2	611555	611555	G	A	intergenic	FAM150B,TMEM18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Obesity  	ICGC,
chr11	112489391	112489391	G	A	intergenic	LOC387810,LOC101928847	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	91655944	91655944	-	T	intergenic	ZNF644,HFM1	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN23259256	-	-	-	-	-,-	High myopia |Myopia,Primary ovarian insufficiency	COSMIC,
chr4	155749145	155749145	C	G	exonic	RBM46	nonsynonymous	SNV	0.017	0.98	-	-	-	-	-	-	-	COSM5709122	-	-	-	-	-	-	COSMIC,
chr1	228346182	228346182	G	A	exonic	GJC2	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM6671252	-	-	-	-	mortality/aging	Spastic paraplegia|Secondary lymphoedema|Pelizaeus-Merzbacher-like disease|Lymphoedema|Hypomyelinating leukodystrophy, type 2	COSMIC,
chr7	106599834	106599834	G	A	intergenic	PIK3CG,PRKAR2B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,integument phenotype	Altered platelet volume|Chronic infection and pelvic pain,-	ICGC,
chr12	1637459	1637459	C	G	intergenic	LINC00942,FBXL14	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr11	106131722	106131722	C	T	ncRNA_intronic	LOC101928535	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr8	81834743	81834743	C	T	intergenic	ZNF704,PAG1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17361921	-	ESAD-UK|1|301|0.00332	-	-	homeostasis/metabolism phenotype,mortality/aging	-,-	COSMIC,ICGC,
chr6	81606546	81606546	T	A	intergenic	BCKDHB,FAM46A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Maple syrup urine disease,Tuberculosis, susceptibility to 	ICGC,
chr8	10524520	10524520	C	T	intergenic	RP1L1,C8orf74	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	vision/eye phenotype,-	Retinitis pigmentosa|Potential protein deficiency|Macular dystrophy, occult,-	ICGC,
chr12	114570585	114570585	C	T	intergenic	RBM19,TBX5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,mortality/aging	-,Atrial septal defects & postaxial hexodactyly|Congenital heart disease |Congenital heart disease.|Holt-Oram syndrome|Holt-Oram syndrome & ulnar-mammary syndrome	ICGC,
chr16	68264170	68264170	G	A	exonic	ESRP2	nonsynonymous	SNV	0.0	1.0	9.746e-05	6.463e-05	rs569178519	9.062e-05	0.000199681	-	-	-	COAD|1|367|0.00272,COADREAD|1|489|0.00204	-	-	-	-	-	TCGA,
chr5	165435712	165435712	T	C	intergenic	LOC102546299,CTB-7E3.1	unknown	SNV	-	-	-	0.4168	rs7733046	-	0.416334	-	0.413	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr13	98742689	98742689	T	C	intergenic	IPO5,FARP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr9	70922319	70922319	-	A	intergenic	FOXD4L3,PGM5-AS1	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN14731237	-	-	-	-	-,-	-,-	COSMIC,
chr12	90343539	90343539	A	G	intergenic	LINC00936,LINC00615	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1153500	-	-	-	-	-,-	-,-	COSMIC,
chr9	137816535	137816535	A	G	intergenic	FCN1,OLFM1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	immune system phenotype,reproductive system phenotype	M-ficolin deficiency|Increased M-ficolin concentrations|Haemolytic uraemic syndrome, atypical.,-	ICGC,
chr10	130599696	130599696	G	A	intergenic	LINC01163,MGMT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,MGMT methylation in malignant pleural mesothelioma, association with|Non-Hodgkin lymphoma, increased risk|Pancreatic cancer, increased risk, association with|Promoter methylation and longer survival in glioblastoma patients, association with|Promoter methylation in colorectal cancer |MGMT methylation in lung cancer, increased risk, association with|MGMT methylation in colorectal cancer, association with|Lung cancer, risk, association with|Glioblastoma, reduced risk, association with |Endometrial cancer risk, association with|Cervical carcinoma, increased risk, association with|Cancer, increased risk|Altered enzyme activity	ICGC,
chr5	26468820	26468820	C	G	intergenic	LOC340107,CDH9	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20257128	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	COSMIC,ICGC,
chr10	56050519	56050519	A	G	intronic	PCDH15	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15766784	-	LIRI-JP|1|258|0.00388	-	-	vision/eye phenotype	Usher syndrome II|Usher syndrome 1f|Usher syndrome 1|Lipid levels in hyperlipidaemia, association with|Hearing loss, non-syndromic|Deafness, non-syndromic, autosomal recessive|Deafness, non-syndromic |Deafness  	COSMIC,ICGC,
chr13	67705772	67705772	-	A	intronic	PCDH9	unknown	insertion	-	-	-	6.754e-05	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	-	ICGC,
chr2	6437857	6437857	C	T	intergenic	LOC400940,LINC01247	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	45931178	45931178	-	T	intronic	CCR9,LZTFL1	unknown	insertion	-	-	-	0.0039	-	-	-	-	-	COSN27454301	-	-	-	-	hematopoietic system phenotype,-	-,Bardet-Biedl syndrome	COSMIC,
chr4	29831575	29831575	C	A	intergenic	MIR4275,PCDH7	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN28074592	-	PRAD-CA|1|308|0.00325	-	-	-,-	-,-	COSMIC,COSMIC,COSMIC,ICGC,
chr13	66064164	66064164	T	G	intergenic	OR7E156P,PCDH9	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17531697	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr5	157398896	157398896	G	A	intergenic	CLINT1,LOC101927697	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	107264340	107264340	C	T	intronic	FBXL17	unknown	SNV	-	-	-	0.4694	rs10037357	-	0.407149	-	0.442	COSN14918449	-	-	-	-	-	-	COSMIC,COSMIC,
chr6	52055894	52055894	-	CTGTGTGTGTGTGTGTGT	downstream	IL17A	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|3|67|0.04478	-	-	mortality/aging	Gastric cancer, association with.|Graft-versus-host disease, increased risk, association with|Ulcerative colitis, increased risk, association with  |Ulcerative colitis, reduced risk	ICGC,
chr5	26256446	26256446	G	A	intergenic	LOC340107,CDH9	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19248470	-	CLLE-ES|1|510|0.00196	-	-	-,-	-,-	COSMIC,ICGC,
chr9	120732003	120732003	T	G	intergenic	TLR4,BRINP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype,-	Phenotypic variation in haemochromatosis, association with|Periodontitis, association with|Pancreatic necrotic infection, association with|Negative association with FMF|Nasopharyngeal cancer, increased risk, association with|Moraxella catarrhalis infection, increased risk, association with|Metabolic syndrome, association with|Meningococcal disease susceptibility|Meningococcal disease mortality|Lung function, association with|Lower left ventricular mass, in hypertensive women, association|Increased risk of cirrhosis in chronic hepatitis C ?|Increased liver and body fat, association with|Potential protein deficiency|Preterm birth and premature rupture of membranes, association with|Tuberculosis susceptibility, in HIV-infected patients, association|Serious infection, in HIV-1 patients, association with|Retinitis pigmentosa |Reduced LPS-induced IL-12 secretion, association with|Reduced expression|Pulmonary tuberculosis, susceptibility and severity, association|Pulmonary tuberculosis, severity, association with|Protection from urinary tract infection, association with|Protection against being overweight|Prostate cancer, increased risk|Prostate cancer risk, association with|Primary open-angle, normal-tension, and exfoliation glaucoma, association with.|Typhoid infection, increased risk, association with|Increased IL-4 secretion response to measles vaccination, association|Cutaneous leishmaniasis, association with|Crohn's disease, association with|Colorectal cancer, association with.|Colorectal cancer risk, association with|Cervical cancer, early stage, association with|Cancer, increased risk, association with|Bronchopulmonary Dysplasia, infant, association with|Breast cancer, association with.|Behcet disease, protection against, association with|Altered monocyte receptor levels|Acute pyelonephritis, reduced risk in adults, association with|Acute pyelonephritis, in children, association with|Diabetes, type 2, protection against, association with|Digestive system cancer, increased risk & prostate cancer, protection against, association with|Emphysema, association with|Increased expression|Helicobacter pylori-related gastric atrophy, association with|HBV recurrence after liver transplantation, association with|Guillain-Barré syndrome, association with|Guillain-Barré syndrome, AMAN sub-type, association with|Gastritis, association with|Gastric carcinoma, association with|Endometriosis, association with|Endotoxin hyporesponsiveness, association with|Extra-intestinal manifestations in Crohn's disease, association with.|Gastric adenocarcinoma, association with|Gastric cancer, association with,-	ICGC,
chr1	201243204	201243204	G	C	intergenic	IGFN1,PKP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,Ectodermal dysplasia/skin fragility syndrome	ICGC,
chr8	15502308	15502308	T	C	intronic	TUSC3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	Mental retardation, non-syndromic, autosomal recessive|Intellectual disability, syndromic  |Intellectual disability, nonsyndromic, autosomal recessive|Intellectual disability & autism|Attention deficit hyperactivity disorder 	ICGC,
chr5	36555331	36555331	C	T	intergenic	RANBP3L,SLC1A3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,vision/eye phenotype	-,Increased glutmate transport|Episodic ataxia/hemiplegia/seizures|Episodic ataxia  6	ICGC,
chrX	30404678	30404678	A	T	intergenic	NR0B1,CXorf21	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8170010	-	PACA-CA|1|268|0.00373	-	-	reproductive system phenotype,-	XY gonadal dysgenesis|Sex reversal, dosage-sensitive|Oligospermia.|Isolated mineralocorticoid deficiency, association with|Hypogonadotropic hypogonadism, short stature and attention deficit disorder.|Hypogonadotropic hypogonadism|Gonadal dysgenesis|Disorder of sex development|Autism spectrum disorder|Adrenal insufficiency|Addison disease|Adrenal failure without enzymatic defects|Adrenal hypoplasia|Adrenal hypoplasia & hypogonadotrophic hypogonadism|Adrenal hypoplasia & mental retardation|Adrenal hypoplasia with neurofibromatosis 1 features|Adrenal hypoplasia, late-onset,-	COSMIC,ICGC,
chr9	112546059	112546059	T	A	intronic	PALM2,PALM2-AKAP2	unknown	SNV	-	-	-	0.0864	rs2769148	-	0.0994409	-	0.043	-	-	ESAD-UK|2|301|0.00664	-	-	-,-	-,-	ICGC,
chr4	159242612	159242612	T	A	intergenic	TMEM144,RXFP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,-	ICGC,
chr1	164976143	164976143	C	T	intergenic	PBX1,LMX1A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,integument phenotype	Schizophrenia,-	ICGC,
chr6	91629126	91629126	A	G	intergenic	MAP3K7,MIR4643	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27539620	-	BTCA-SG|1|71|0.01408	-	-	mortality/aging,-	-,-	COSMIC,ICGC,
chrX	37837177	37837177	G	A	intergenic	DYNLT3,HYPM	unknown	SNV	-	-	-	0.1676	rs5918450	-	0.122384	-	0.138	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	185801925	185801925	-	A	exonic	ZNF804A	frameshift	insertion	-	-	-	-	-	-	-	-	-	COSM6191191	-	-	-	-	-	Neurodevelopmental disease|Reduced cortical gray matter thickness|Schizophrenia and bipolar disorder, association with|Schizophrenia, association with  	COSMIC,
chr18	47421524	47421524	A	C	exonic	MYO5B	synonymous	SNV	-	-	1.626e-05	9.683e-05	rs199588107	1.657e-05	-	-	-	-	-	-	Diarrhea_with_Microvillus_Atrophy	-	-	Microvillus inclusion disease	ClinVar,
chr6	44212700	44212700	-	G	intergenic	SLC29A1,HSP90AB1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	CLLE-ES|1|510|0.00196	-	-	behavior/neurological phenotype,mortality/aging	Increased gene expression|Alcohol dependence, association with,Multiple organ dysfunction, after trauma, association with	ICGC,
chr4	32973599	32973600	TG	-	intergenic	PCDH7,NONE	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	ICGC,
chr13	83301809	83301809	T	C	intergenic	NONE,SLITRK1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,mortality/aging	-,Trichotillomania|Tourette syndrome|Obsessive-compulsive disorder |Attention deficit hyperactivity disorder 	ICGC,
chr2	139998867	139998867	C	T	intergenic	YY1P2,LRP1B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Schizophrenia   	ICGC,
chr14	60194059	60194059	G	A	exonic	RTN1	nonsynonymous	SNV	0.001	0.998	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr4	122194804	122194804	C	G	intergenic	TNIP3,QRFPR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	immune system phenotype,skeleton phenotype	-,-	ICGC,
chr21	17069984	17069984	T	A	intergenic	NRIP1,USP25	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	reproductive system phenotype,hematopoietic system phenotype	Lung cancer, susceptibility to, association with,-	ICGC,
chr16	53041267	53041267	G	A	intergenic	CASC16,CHD9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	82725968	82725968	C	G	intergenic	LPHN2,LINC01361	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25134447	-	MALY-DE|1|241|0.00415	-	-	mortality/aging,-	Schizophrenia,-	COSMIC,ICGC,
chr5	51883736	51883736	T	-	intergenic	ISL1,PELO	unknown	deletion	-	-	-	-	rs796279348	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	integument phenotype,mortality/aging	Cardiomyopathy, dilated|Diabetes, type 2|Intellectual and developmental disabilities,-	ICGC,
chr3	118472833	118472833	C	T	intergenic	LINC00901,IGSF11	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr16	57580552	57580552	T	C	intronic	GPR114	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22628788	-	BRCA-UK|1|141|0.00709,BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr16	86456618	86456618	G	A	intergenic	LINC00917,FENDRR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr17	27379087	27379087	G	T	intronic	PIPOX	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-JP|1|585|0.00171	-	-	-	-	ICGC,
chr7	153339063	153339063	C	T	intergenic	ACTR3B,DPP6	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7657036	-	PACA-CA|1|268|0.00373	-	-	-,nervous system phenotype	-,Autism spectrum disorder  |Schizophrenia  |Ventricular fibrillation, idiopathic 	COSMIC,ICGC,
chr7	66960731	66960731	G	T	intergenic	LINC01372,LOC102723427	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	65402519	65402519	G	T	intronic	MAGI1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Schizophrenia  |Bipolar affective disorder  	ICGC,
chr7	87920921	87920921	T	A	intronic	STEAP4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype	Obesity, association with|Metabolic syndrome, association with	ICGC,
chr17	52149799	52149799	C	T	intergenic	KIF2B,TOM1L1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr15	88952396	88952396	G	A	intergenic	NTRK3-AS1,MRPL46	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	-,-	ICGC,
chr9	136873100	136873100	G	A	intergenic	VAV2,LINC00094	unknown	SNV	-	-	-	6.471e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype,-	-,-	ICGC,
chr8	122858837	122858837	G	C	intergenic	HAS2-AS1,ZHX2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-AU|1|391|0.00256	-	-	-,homeostasis/metabolism phenotype	-,-	ICGC,
chr3	22583224	22583224	-	ATACACACAT	intergenic	ZNF385D-AS2,UBE2E2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|4|67|0.05970	-	-	-,-	-,-	ICGC,
chr1	177847808	177847808	A	G	intergenic	LOC101928778,SEC16B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,homeostasis/metabolism phenotype	-,-	ICGC,
chr12	39897762	39897762	T	A	intergenic	KIF21A,ABCD2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8662344	-	ESAD-UK|1|301|0.00332	-	-	-,hematopoietic system phenotype	CFEOM1 & Marcus Gunn jaw-winking syndrome|Congenital fibrosis of the extraocular muscles 1|Congenital fibrosis of the extraocular muscles 1 & Möbius syndrome,-	COSMIC,ICGC,
chr4	33328819	33328819	C	A	intergenic	NONE,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	ICGC,
chr11	14958632	14958632	C	T	intergenic	CYP2R1,CALCA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	25-hydroxyvitamin D deficiency,Lower bone mineral density, association with|Osteoporosis	ICGC,
chr20	12675559	12675559	G	T	intergenic	BTBD3,LOC101929486	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	ICGC,
chr9	123578314	123578314	T	G	downstream	PSMD5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2309381	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr8	113282592	113282592	-	TAGGGGTGA	intronic	CSMD3	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN27736129	-	-	-	-	-	Schizophrenia  |Colorectal cancer 	COSMIC,
chr4	149516161	149516161	A	T	intergenic	NR3C2,DCLK2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25390673	-	MALY-DE|1|241|0.00415	-	-	mortality/aging,mortality/aging	Myocardial infarction, increased risk, association with|Neonatal stress, association with|Pseudohypoaldosteronism 1|Pseudohypoaldosteronism type 1, autosomal dominant|Reduced expression|Reduced expression, association with|Increased BMI and LDL-cholesterol, association with|Increased blood pressure, association with|Increased amygdala reactivity, with prior childhood emotional neglect, association with.|Autism |Blood pressure variation in response to potassium, association with|Cortisol awakening response in women, association with|Fibromyalgia|Higher ADHD symptom dimensions, association with|Hypertension, early onset exacerbated in pregnancy,-	COSMIC,ICGC,
chr5	20566719	20566719	C	T	intronic	CDH18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	Anorectal malformation	ICGC,
chrX	11159555	11159555	A	G	intronic	ARHGAP6	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22317112	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	mortality/aging	Microphthalamia with linear skin defects	COSMIC,COSMIC,ICGC,
chr1	120183118	120183118	A	G	intronic	ZNF697	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr13	104501825	104501825	C	T	intergenic	MIR548AS,DAOA-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|2|100|0.02000	-	-	-,-	-,-	ICGC,
chr2	62964865	62964865	C	T	intronic	EHBP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr21	41301104	41301104	-	T	UTR3	PCP4	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN19705089	-	-	-	-	behavior/neurological phenotype	-	COSMIC,
chr6	112867701	112867701	G	A	intergenic	RFPL4B,MARCKS	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,-	ICGC,
chr9	82961560	82961560	G	A	intergenic	LOC101927477,TLE1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr12	115256046	115256046	C	T	intergenic	TBX3,MED13L	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,-	Ulnar-mammary syndrome,Intellectual disability, nonsyndromic, no cardiac involvement|Hypotonia, learning difficulties & perimembranous ventricular septal defect|Hypotonia, intellectual disability, conotruncal heart defect & facial anomalies|Congenital heart defect|Colorectal cancer, increased risk, association with |Autism	ICGC,
chrX	64565424	64565424	G	A	intergenic	ZC4H2,ZC3H12B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Arthrogryposis multiplex congenita and intellectual disability,Autism spectrum disorder	ICGC,
chr18	33661945	33661945	G	A	intergenic	RPRD1A,SLC39A6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Esophageal squamous cell carcinoma, survival, association with	ICGC,
chr1	242386431	242386431	A	C	intronic	PLD5	unknown	SNV	-	-	-	0.2896	rs10926663	-	0.378594	-	0.377	COSN6450361	-	ESAD-UK|1|301|0.00332	-	-	-	-	COSMIC,ICGC,
chr14	101285423	101285423	T	G	intergenic	MIR2392,MEG3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,-	ICGC,
chr15	66900459	66900459	G	C	ncRNA_intronic	LINC01169	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5400042	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,COSMIC,ICGC,
chr7	6173433	6173433	A	G	intronic	USP42	unknown	SNV	-	-	-	0.1021	rs9655493	-	0.0944489	-	0.116	-	-	SKCA-BR|1|100|0.01000	-	-	hematopoietic system phenotype	-	ICGC,
chr7	43247048	43247048	C	T	intronic	HECW1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26767387	-	PRAD-FR|1|25|0.04000	-	-	-	-	COSMIC,ICGC,
chr9	15083469	15083469	G	A	intergenic	LOC389705,TTC39B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	ICGC,
chr15	53418883	53418883	C	T	intergenic	ONECUT1,WDR72	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging,-	-,Amelogenesis imperfecta|Hypomaturation amelogenesis imperfecta	ICGC,
chr7	86364568	86364568	C	A	intronic	GRM3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	behavior/neurological phenotype	Schizophrenia, association with|Major depressive disorder, association with	ICGC,
chr14	68048887	68048887	A	G	exonic	PLEKHH1	nonsynonymous	SNV	0.67	0.002	-	-	-	-	-	-	-	COSM957192	UCEC|1|248|0.00403	UCEC-US|1|250|0.00400	-	-	-	Potential protein deficiency|Schizophrenia	COSMIC,COSMIC,TCGA,ICGC,
chr6	94274370	94274370	T	C	intergenic	EPHA7,TSG1	unknown	SNV	-	-	-	0.2416	rs6919983	-	0.247604	-	0.304	COSN14775182	-	-	-	-	nervous system phenotype,-	Development delay and dysmorphic features|Leukemia, risk, association with ,-	COSMIC,
chr2	57440842	57440842	-	T	intergenic	CCDC85A,VRK2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	-,-	-,-	ICGC,
chr2	240898700	240898700	G	A	UTR3	NDUFA10	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN4803398	-	MALY-DE|1|241|0.00415	-	-	-	Complex I deficiency	COSMIC,ICGC,
chr5	30472058	30472058	G	A	intergenic	LOC101929681,CDH6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,renal/urinary system phenotype	-,-	ICGC,
chr10	89711883	89711893	TATTCCCAGTC	-	exonic	PTEN	frameshift	deletion	-	-	-	-	-	-	-	-	-	COSM5770	-	-	-	-	integument phenotype	Macrocephaly |Lhermitte-Duclos disease|Juvenile polyposis coli|Increased expression|Hypoglycaemia, macrocephaly, developmental delay, short stature and coagulopathy |Hyperplastic polyps and tubular adenomas|Hamartoma tumour syndrome|Gorham-Stout phenomenon|Gastrointestinal polyposis|Gastric cancer, association with|Macrocephaly, hypotonia & learning disabilities|Macrocephaly, ventriculomegaly, VATER association|PTEN hamartoma-tumour syndrome with systemic lupus erythematosus|PTEN hamartoma-tumour syndrome|PTEN hamartoma tumour syndrome|Proteus-like syndrome|Proteus syndrome|Neurodevelopmental disorders and macrocephaly without autism|Neurodevelopmental disorders and macrocephaly with autism|Multiple cancers|Mental retardation  |Squamous cell carcinoma|Diabetes, type 2, association with|Developmental delay and macrocephaly|Breast cancer|Bannayan-Zonana syndrome|Bannayan-Riley-Ruvalcaba syndrome, with cortical dysplasia|Bannayan-Riley-Ruvalcaba syndrome|Autism-epilepsy with macrocephaly|Autism spectrum disorders, developmental delay and macrocephaly|Autism spectrum disorder and macrocephaly|Autism spectrum disorder |Autism|Breast cancer, lower age of diagnosis, association with|Breast cancer.|Complex atypical hyperplasia|Developmental delay  |Cowden/Bannayan syndrome.|Cowden syndrome|Cowden disease with neuroblastoma|Cowden disease and vascular anomalies|Cowden disease / Sjogren's syndrome|Cowden disease|Cowden / Cowden-like syndrome with thyroid cancer|Cowden / Bannayan-Riley-Ruvalcaba syndromes	COSMIC,
chr5	118645989	118645989	C	T	intronic	TNFAIP8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Cervical cancer, increased risk, association with 	ICGC,
chr5	54390947	54390947	C	T	intergenic	GZMK,GZMA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,mortality/aging	-,-	ICGC,
chr11	131880605	131880605	C	T	intronic	NTM	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Aortic aneurysm, thoracic & intracranial|Potential protein deficiency	ICGC,
chr7	84280702	84280702	C	A	intergenic	LOC101927378,SEMA3D	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17223036	-	PACA-CA|1|268|0.00373	-	-	-,-	-,Total anomalous pulmonary venous connection|Tetralogy of Fallot|Hirschsprung disease   	COSMIC,ICGC,
chr8	92509115	92509115	C	T	intergenic	SLC26A7,RUNX1T1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	digestive/alimentary phenotype,integument phenotype	-,Intellectual disability  	ICGC,
chr4	81707154	81707154	C	T	intronic	C4orf22	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|2|100|0.02000,MELA-AU|2|183|0.01093	-	-	-	-	ICGC,
chr11	118480115	118480115	G	C	intronic	PHLDB1	unknown	SNV	-	-	-	0.4229	rs12803321	-	0.416334	-	0.174	COSN15654756	-	-	-	-	-	Schizophrenia	COSMIC,
chr5	100033885	100033885	G	A	intergenic	FAM174A,ST8SIA4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,-	ICGC,
chr7	55605275	55605275	G	A	UTR5	VOPP1	unknown	SNV	-	-	-	0.0048	rs60741416	-	0.00499201	-	0.007	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr7	89942148	89942148	T	-	intergenic	C7orf63,LOC101927446	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	ICGC,
chr11	30312128	30312128	C	T	intergenic	FSHB,ARL14EP	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	reproductive system phenotype,-	Altered gonadotropin secretion, association with|Follicle-stimulating hormone deficiency|Reduced reproductive potential, association with|Reduced serum FSH,-	ICGC,
chr10	116508425	116508425	T	A	intergenic	ABLIM1,LOC101927692	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	normal phenotype,-	Schizophrenia  ,-	ICGC,
chr4	34331134	34331134	A	C	intergenic	NONE,ARAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17728975	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr11	30246407	30246407	A	T	intergenic	KCNA4,FSHB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,reproductive system phenotype	-,Altered gonadotropin secretion, association with|Follicle-stimulating hormone deficiency|Reduced reproductive potential, association with|Reduced serum FSH	ICGC,
chr18	35889405	35889405	G	A	intergenic	MIR4318,LINC00669	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr8	35862147	35862147	C	T	intergenic	UNC5D,KCNU1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,reproductive system phenotype	-,Schizophrenia  	ICGC,
chr17	69952271	69952271	C	T	intergenic	CASC17,LOC102723505	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr12	55426083	55426083	C	T	intergenic	NEUROD4,OR9K2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,-	-,-	ICGC,
chr1	209307323	209307323	G	A	intergenic	PLXNA2,MIR205HG	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|3|183|0.01639	-	-	vision/eye phenotype,-	Tetralogy of Fallot,-	ICGC,
chr7	110026617	110026617	G	A	intergenic	EIF3IP1,IMMP2L	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,reproductive system phenotype	-,Gilles de la Tourette syndrome|Autism	ICGC,
chr6	100103459	100103459	G	A	intergenic	PRDM13,MCHR2	unknown	SNV	-	-	-	-	rs752949490	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr7	128585918	128585918	G	A	exonic	IRF5	nonsynonymous	SNV	0.013	1.0	-	-	-	-	-	-	-	COSM3633140	SKCM|1|368|0.00272	SKCM-US|1|335|0.00299	-	-	hematopoietic system phenotype	Systemic sclerosis, association with|Systemic lupus erythematosus, association with|Sjogren syndrome, association with|Shorter transcript, association with|Rheumatoid arthritis, seronegative, association with|Multiple sclerosis, association with |Multiple sclerosis|Acute coronary syndrome, association with|Altered function|Altered melanoma immune responsiveness, association with.|Haemophagocytic lymphohistiocytosis, secondary, association with.|Inflammatory bowel disease, association with 	COSMIC,TCGA,ICGC,
chr5	116134464	116134464	T	G	intergenic	LOC102467223,LINC00992	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr11	6553955	6553955	C	T	intronic	DNHD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr9	10384942	10384942	T	C	intronic	PTPRD	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22235356	-	BRCA-EU|1|569|0.00176	-	-	integument phenotype	Restless legs syndrome, association with|Ewing sarcoma	COSMIC,ICGC,
chrX	88391561	88391561	C	T	intergenic	CPXCR1,TGIF2LX	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr6	16485213	16485213	-	AGTGTGTG	intronic	ATXN1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	mortality/aging	Spinocerebellar ataxia 1|Schizophrenia, association with |Maculopathy with spinocerebellar ataxia type 1.|Intellectual disability & behavioural abnormalities|Azoospermia, association with|Amyotrophic lateral sclerosis	ICGC,
chr2	33684248	33684248	C	T	intronic	RASGRP3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	hematopoietic system phenotype	Systemic lupus erythematosus, association with	ICGC,
chrX	109919597	109919597	G	T	intronic	CHRDL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	Megalocornea, X-linked	ICGC,
chr3	46179892	46179892	G	A	intergenic	XCR1,CCR1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	immune system phenotype,mortality/aging	-,Alzheimer's disease, association with	ICGC,
chr7	56884983	56884983	C	A	intergenic	LOC101928401,LOC100130849	unknown	SNV	-	-	-	0	rs369088631	-	0.0766773	-	-	COSN19633578	-	LAML-KR|1|205|0.00488,LUSC-KR|1|170|0.00588	-	-	-,-	-,-	COSMIC,ICGC,
chr5	155885455	155885455	G	T	intronic	SGCD	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24389008	-	-	-	-	mortality/aging	Muscular dystrophy, limb girdle 2F|Muscular dystrophy, limb girdle 2 |Muscular dystrophy, limb girdle|Cardiomyopathy, dilated|Anorectal malformation	COSMIC,
chrY	23080327	23080327	C	T	intergenic	RPS4Y2,PRORY	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	146633008	146633008	C	T	intergenic	TEX41,PABPC1P2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	ICGC,
chr4	187930119	187930119	T	-	intergenic	FAT1,LOC339975	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	integument phenotype,-	Autism,-	ICGC,
chr3	35756827	35756827	C	A	intronic	ARPP21	unknown	SNV	-	-	-	3.237e-05	rs569438149	-	0.000199681	-	-	-	-	COCA-CN|1|321|0.00312	-	-	nervous system phenotype	-	ICGC,
chr6	120689261	120689261	G	C	intergenic	LOC285762,TBC1D32	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17790791	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,Oro-facio-digital syndrome type IX	COSMIC,ICGC,
chr16	74090972	74090972	G	A	intergenic	LOC100506172,LOC101928035	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chrX	40516841	40516841	C	T	intronic	MED14	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	normal phenotype	-	ICGC,
chr5	2227838	2227838	G	T	intergenic	MIR548BA,LOC100506858	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9426066	-	OV-AU|1|93|0.01075	-	-	-,-	-,-	COSMIC,ICGC,
chr2	137501717	137501717	C	T	intergenic	CXCR4,THSD7B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	WHIM syndrome,Autism spectrum disorder	ICGC,
chr10	73615074	73615074	C	T	intergenic	PSAP,CHST3	unknown	SNV	-	-	-	9.696e-05	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging,hematopoietic system phenotype	Schizophrenia|Saposin C deficiency|Saposin B deficiency ?|Saposin B deficiency|Saposin A deficiency|Prosaposin deficiency|Metachromatic leukodystrophy|Gaucher disease, atypical,Spondyloepiphyseal dysplasia, Omani type with cardiac involvement|Spondyloepiphyseal dysplasia, Omani type|Lumbar disc degeneration, association with|Larsen syndrome, autosomal recessive|Desbuquois dysplasia, type 2|Chondrodysplasia, CHST3-related|Carbohydrate sulfotransferase 3 deficiency 	ICGC,
chr9	124654292	124654292	A	C	intronic	TTLL11	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	Schizophrenia  	ICGC,
chr5	45524099	45524099	T	C	intronic	HCN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	integument phenotype	Idiopathic epilepsy, generalised 	ICGC,
chr7	9664810	9664810	G	A	intergenic	NXPH1,PER4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Breast cancer, increased risk  ,-	ICGC,
chr14	26374481	26374481	A	C	intergenic	STXBP6,NOVA1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,mortality/aging	-,-	ICGC,
chr7	13797948	13797948	T	C	intergenic	ARL4A,ETV1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	reproductive system phenotype,mortality/aging	-,-	ICGC,
chr16	64900558	64900558	T	G	intergenic	NONE,CDH11	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8671795	-	ESAD-UK|1|301|0.00332,MELA-AU|2|183|0.01093	-	-	-,integument phenotype	-,-	COSMIC,ICGC,
chr5	30829873	30829873	A	T	intergenic	LOC101929681,CDH6	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26623202	-	LICA-CN|1|402|0.00249	-	-	-,renal/urinary system phenotype	-,-	COSMIC,ICGC,
chr9	83900657	83900657	C	G	intergenic	LOC101927477,TLE1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15495391	-	OV-AU|1|93|0.01075	-	-	-,-	-,-	COSMIC,COSMIC,COSMIC,ICGC,
chr18	581099	581099	G	A	UTR3	CETN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr16	16191378	16191378	G	A	intronic	ABCC1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17566636	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Reduced multidrug resistance|Lung cancer, increased risk in Chinese population, association with|Increased promoter activity|Increased multidrug response|Increased doxorubicin resistance|Improved outcome in aggressive-neuroblastoma patients, association with|Decreased estradiol 17beta-glucuronide transport|Cystic fibrosis, severity, association with|Anthracycline-induced cardiotoxicity|Altered subcellular localization	COSMIC,ICGC,
chr9	90276548	90276548	T	C	intronic	DAPK1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	cellular phenotype	Alzheimer disease, late onset, association with|Chronic lymphocytic leukaemia  |Inactivation of ERK-induced apoptosis, association	ICGC,
chr12	118598053	118598053	G	-	exonic	TAOK3	frameshift	deletion	-	-	-	-	-	-	-	-	-	-	KIPAN|1|799|0.00125,KIRC|1|451|0.00222	-	-	-	-	-	TCGA,
chr12	111396152	111396152	C	T	intergenic	LINC01405,CUX2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Intellectual disability, nonsyndromic	ICGC,
chr2	73869399	73869399	G	T	intronic	NAT8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	Microalbuminuria and dysplastic kidney|Altered N-acetylornithine metabolism	ICGC,
chr2	193828137	193828137	G	C	intergenic	PCGEM1,LOC101927406	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21460177	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chrX	108631735	108631735	C	T	exonic	GUCY2F	nonsynonymous	SNV	0.002	1.0	1.134e-05	-	rs761764082	1.164e-05	-	-	-	COSM5711439	-	-	-	-	vision/eye phenotype	-	COSMIC,
chr3	161913809	161913809	G	A	intergenic	OTOL1,LINC01192	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr8	121696732	121696732	A	C	intronic	SNTB1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr17	46082035	46082035	G	T	intergenic	CDK5RAP3,COPZ2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7436876	-	PACA-AU|1|391|0.00256	-	-	-,-	Colorectal cancer, late-onset, association with ,-	COSMIC,ICGC,
chr8	60621563	60621563	-	T	intergenic	TOX,CA8	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype,behavior/neurological phenotype	Pulmonary tuberculosis, association  with,Ataxia, cerebellar hypoplasia|Cerebellar ataxia and quadrupedal locomotion|Cerebellar ataxia, mental retardation & dysequilibrium syndrome 3	ICGC,
chr9	9724898	9724898	C	A	intronic	PTPRD	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23670912	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype	Restless legs syndrome, association with|Ewing sarcoma	COSMIC,ICGC,
chr6	33422095	33422095	C	A	downstream	ZBTB9	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21986918	-	BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr13	65609188	65609188	C	T	intergenic	OR7E156P,PCDH9	unknown	SNV	-	-	-	-	rs768321486	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr17	65538097	65538097	C	T	intronic	PITPNC1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr5	107912339	107912339	T	G	intergenic	FBXL17,LINC01023	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5584395	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr6	91101965	91101965	-	ATATATATAT	intergenic	MIR4464,MAP3K7	unknown	insertion	-	-	-	0.0272	rs71556559	-	-	-	-	COSN27330435	-	-	-	-	-,mortality/aging	-,-	COSMIC,
chr1	96818381	96818381	G	T	ncRNA_intronic	LOC101928241	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr10	37227958	37227958	G	A	intergenic	LINC01452,ANKRD30A	unknown	SNV	-	-	-	6.48e-05	-	-	-	-	-	COSN15288353	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr2	102348951	102348951	C	T	intronic	MAP4K4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27917219	-	PRAD-CA|1|308|0.00325	-	-	mortality/aging	-	COSMIC,ICGC,
chr15	36946303	36946303	C	A	exonic	C15orf41	nonsynonymous	SNV	0.052	0.987	-	-	-	-	-	-	-	COSM5506463	-	BTCA-JP|1|239|0.00418	-	-	-	Congenital dysorythropoietic anaemia type 1	COSMIC,ICGC,
chr15	81881390	81881390	C	T	intergenic	LOC101929655,MEX3B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr8	11849503	11849503	G	A	intergenic	DEFB135,DEFB134	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	10020588	10020588	C	A	intronic	SLC2A9	unknown	SNV	-	-	0.0009	0.0008	rs377565288	0.0010	-	0.0011	-	-	-	-	Familial_renal_hypouricemia	-	mortality/aging	Gout, association with|Renal hypouricaemia|Renal hypouricaemia with exercise-induced acute renal failure	ClinVar,
chr14	75746595	75746595	C	A	exonic	FOS	nonsynonymous	SNV	0.63	1.0	-	-	-	-	-	-	-	COSM4769448	-	-	-	-	integument phenotype	Lipodystrophy, congenital generalized	COSMIC,
chr10	67803202	67803202	G	C	intronic	CTNNA3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Tourette syndrome |Sinus venosus atrial septal defect|Neural tube defects|Cervical artery dissection|Autism spectrum disorder |Attention deficit hyperactivity disorder |Arrhythmogenic right ventricular cardiomyopathy|Alzheimer disease, increased risk, association with |Adenocarcinoma	ICGC,
chr3	118503313	118503313	C	T	intergenic	LINC00901,IGSF11	unknown	SNV	-	-	-	6.465e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr9	127241992	127241992	G	C	intergenic	PSMB7,NR5A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Premature ovarian failure |Ovarian insufficiency.|Ovarian insufficiency, association with.|Ovarian insufficiency|Oligozoospermia|Micropenis, association with|Micropenis|Low ovarian reserve|Premature ovarian failure, association with|Primary amenorrhea|XY sex reversal, without adrenal failure|XY sex reversal, with adrenal failure|XY sex reversal with nail-patella syndrome|XY sex reversal|XY gonadal dysgenesis|Vanishing testis|Spermatogenic failure|Primary amenorrhea & poor secondary sexual development|Hypospadias and cryptorchidism|Hypospadias|Adrenal disease, association with|46,XY sex reversal & asplenia|46,XY gonadal dysgenesis / 46,XX premature ovarian failure|46,XY disorder of sex development.|46,XY disorder of sex development with anxiety/depression|46,XY disorder of sex development & developmental delay|46,XY disorder of sex development|46, XY disorder of sex development|Adrenal hyperplasia, congenital lipoid|Adrenocortical insufficiency without ovarian defect|Hypogonadotropic hypogonadism, idiopathic.|Hypogonadotropic hypogonadism, idiopathic|Hyperandrogenism|Diabetes|Cryptozoospermia|Cryptorchidism, association with|Azoospermia  |Anorchia, bilateral	ICGC,
chr20	40446960	40446960	T	C	intergenic	CHD6,PTPRT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	behavior/neurological phenotype,homeostasis/metabolism phenotype	Mental retardation with brachydactyly of toes,Intellectual disability, behavioural problems, microcephaly & cardiac defect|Attention deficit hyperactivity disorder 	ICGC,
chr19	19684652	19684652	C	T	intronic	PBX4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-	High HDL cholesterol|Congenital heart defects	ICGC,
chr13	109993774	109993774	T	G	intergenic	MYO16,LINC00676	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr1	106151699	106151699	A	T	intergenic	LOC100129138,PRMT6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr10	43513158	43513158	G	T	intergenic	MIR5100,RET	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,mortality/aging	-,Pheochromocytoma|Phenotype modifier, association with|Phaeochromocytoma.|Phaeochromocytoma and paraganglioma|Phaeochromocytoma & medullary thyroid carcinoma|Phaeochromocytoma|Papillary thyroid carcinoma, association with|Multiple endocrine neoplasia 2C|Multiple endocrine neoplasia 2B.|Multiple endocrine neoplasia 2B|Multiple endocrine neoplasia 2A.|Multiple endocrine neoplasia 2a without MTC|Multiple endocrine neoplasia 2A & Cushing's disease|Primary vesicoureteral reflux, association with.|Reduced newborn kidney size and function|Urinary tract malformation|Thyroid carcinoma, medullary.|Thyroid carcinoma, medullary, association with.|Thyroid carcinoma, medullary|Thyroid carcinoma, familial medullary|Thyroid carcinoma |Thyroid cancer, metastatic, association with|Thyroid cancer, association with|Thyroid cancer and pheochromocytoma|Thyroid cancer|Thyroid C-cell hyperplasia|Renal agenesis / hypodysplasia |Renal agenesis |Multiple endocrine neoplasia 2A |Multiple endocrine neoplasia 2.|Aganglionosis, total colonic|Head and neck paragangliomas in Multiple Endocrine Neoplasia 2|Endocrine tumours, susceptibility, association with|Elevated hCt serum concentration, association with|Elevated basal serum hCT concentration|Elevated basal serum calcitonin|Differentiated thyroid cancer, increased risk, association with |Cutaneous melanoma, association with|Central hypoventilation syndrome|Bilateral phaeochromocytoma without medullary thyroid carcinoma|Bardet-Biedl syndrome|Autonomic control, congenital failure of |Anorectal malformation, association with|Hirschsprung disease|Hirschsprung disease / Multiple endocrine neoplasia 2 |Hirschsprung disease & hydrocephalus, X-linked |Multiple endocrine neoplasia 2|Multifollicular thyroid carcinoma |Multicystic dysplastic kidney |Medullary/papillary thyroid carcinomas, association with|Medullary thyroid carcinoma.|Medullary thyroid carcinoma, association with|Medullary thyroid carcinoma|Lymph node metastasis, association with|Hirschsprung disease, association with|Hirschsprung disease, protection against, association with|Hirschsprung disease.|Hyperparathyroidism|Intestinal pseudo-obstruction, association with	ICGC,
chr10	69173733	69173733	A	G	intronic	CTNNA3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5882019	-	LIRI-JP|1|258|0.00388	-	-	-	Tourette syndrome |Sinus venosus atrial septal defect|Neural tube defects|Cervical artery dissection|Autism spectrum disorder |Attention deficit hyperactivity disorder |Arrhythmogenic right ventricular cardiomyopathy|Alzheimer disease, increased risk, association with |Adenocarcinoma	COSMIC,ICGC,
chr5	72158878	72158878	T	G	intronic	TNPO1	unknown	SNV	-	-	-	3.268e-05	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	-	ICGC,
chr5	155571425	155571425	T	G	intergenic	KIF4B,SGCD	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,Muscular dystrophy, limb girdle 2F|Muscular dystrophy, limb girdle 2 |Muscular dystrophy, limb girdle|Cardiomyopathy, dilated|Anorectal malformation	ICGC,
chr17	63735002	63735002	T	A	intronic	CEP112	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23341489	-	MALY-DE|1|241|0.00415	-	-	-	-	COSMIC,ICGC,
chr3	1345081	1345081	G	A	intronic	CNTN6	unknown	SNV	-	-	-	0.0764	rs75783561	-	0.066893	-	0.022	-	-	LAML-KR|1|205|0.00488	-	-	behavior/neurological phenotype	Intellectual disability  	ICGC,
chr9	65554458	65554458	A	C	intergenic	SPATA31A5,LINC01410	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26405415	-	PRAD-UK|1|140|0.00714	-	-	-,-	-,-	COSMIC,ICGC,
chr13	63626938	63626938	T	C	intergenic	LINC00448,LINC00395	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr18	20102537	20102537	T	C	intergenic	CTAGE1,LOC101927571	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17050588	-	-	-	-	-,-	-,-	COSMIC,
chr3	164132622	164132622	G	A	intergenic	LINC01192,SI	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9529842	-	OV-AU|1|93|0.01075	-	-	-,-	-,Sucrase isomaltase deficiency	COSMIC,ICGC,
chr2	12783842	12783842	G	A	intergenic	LOC100506457,TRIB2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN28055851	-	PRAD-CA|1|308|0.00325	-	-	-,mortality/aging	-,-	COSMIC,COSMIC,ICGC,
chrX	136668292	136668292	C	T	intergenic	ZIC3,LINC00889	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,-	Situs abnormality|Heterotaxy|Congenital heart disease |Cardiac malformation,-	ICGC,
chr7	69750245	69750245	G	A	intronic	AUTS2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-	Speech & language disorder, tonic-clonic movements & pes planus|Myoclonic epilepsy, juvenile |Mental retardation|Intellectual disability, syndromic  |Epilepsy, nonlesional |Developmental delay, intellectual disability, short stature, ptosis & dysmorphism|Developmental delay  |Autism spectrum disorder  |Autism	ICGC,
chr5	179363276	179363276	A	T	intergenic	TBC1D9B,RNF130	unknown	SNV	-	-	-	0.0004	rs568329611	-	0.000798722	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-,-	-,-	ICGC,
chr11	22108787	22108787	G	A	intergenic	NELL1,ANO5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Crohn disease, association with,Persistent asymptomatic hyperCKemia|Myopathy of posterior calf muscles, late-onset|Myopathy / muscular dystrophy|Myopathy  |Muscular dystrophy, limb girdle 2L.|Muscular dystrophy, limb girdle 2L|Muscular dystrophy  |Miyoshi-like distal myopathy|Miyoshi myopathy, non-dysferlin|Miyoshi distal myopathy.|Miyoshi distal myopathy|Gnathodiaphyseal dysplasia|Autism 	ICGC,
chr11	62935385	62935385	G	A	intronic	SLC22A25	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	Autism spectrum disorder	ICGC,
chr4	183601847	183601847	T	C	exonic	TENM3	synonymous	SNV	-	-	0.4530	0.4312	rs2871328	0.4493	0.520168	0.3749	0.435	-	-	COCA-CN|5|321|0.01558,ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488	not_specified	-	mortality/aging	Microphthalmia  	ClinVar,ICGC,
chr12	64370559	64370559	C	T	intronic	SRGAP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	Papillary thyroid carcinoma, susceptibility to	ICGC,
chr12	82026649	82026649	C	T	intronic	PPFIA2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr5	180086315	180086315	T	C	intergenic	FLT4,OR2Y1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	integument phenotype,-	Lymphoedema, primary|Oedema, prenatal generalised,-	ICGC,
chr16	72057252	72057252	G	A	intronic	DHODH	unknown	SNV	-	-	4.093e-06	-	rs368763513	8.408e-06	-	-	-	COSN26575211	-	LICA-CN|1|402|0.00249,LIRI-JP|1|258|0.00388	-	-	-	Miller syndrome	COSMIC,COSMIC,ICGC,
chr18	54188195	54188195	C	T	intergenic	LOC100505474,TXNL1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21879128	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr14	106098293	106098293	C	T	intergenic	MIR8071-2,MIR8071-2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr6	9032463	9032463	A	G	intergenic	LOC100506207,TFAP2A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-,integument phenotype	-,Schizophrenia, episodic, association |Orofacial clefting |Developmental delay/intellectual disability and nasolacrimal duct obstruction|Cisplatin resistance|Branchio-oculo-facial syndrome with thyroglossal duct cyst|Branchio-oculo-facial syndrome	ICGC,
chr14	100423911	100423911	G	A	intergenic	EML1,EVL	unknown	SNV	-	-	-	0.0001	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,mortality/aging	-,-	ICGC,
chrX	150662907	150662907	-	A	intergenic	VMA21,PASD1	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN14671026	-	-	-	-	-,-	X-linked myopathy with excessive autophagy,-	COSMIC,
chr8	53034073	53034073	G	T	intronic	ST18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	homeostasis/metabolism phenotype	-	ICGC,
chr6	62110740	62110740	A	G	intergenic	NONE,MTRNR2L9	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2168925	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr3	90016559	90016559	G	T	intergenic	EPHA3,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1971795	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging,-	Oligozoospermia|Schizophrenia    |Sertoli-cell-only syndrome,-	COSMIC,ICGC,
chr3	68480436	68480436	A	C	intronic	FAM19A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr13	69679852	69679852	A	C	intergenic	LINC00550,KLHL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,behavior/neurological phenotype	-,Breast cancer, increased risk  	ICGC,
chr6	11082262	11082262	G	A	intergenic	ELOVL2-AS1,SMIM13	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6720635	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr1	10523622	10523622	G	A	exonic	DFFA	nonsynonymous	SNV	0.427	0.001	-	-	-	-	-	-	-	COSM6642761	-	-	-	-	behavior/neurological phenotype	-	COSMIC,COSMIC,
chr16	67213361	67213361	C	G	exonic	KIAA0895L	nonsynonymous	SNV	0.001	1.0	-	-	-	-	-	-	-	COSM3794980	BLCA|1|396|0.00253	BLCA-US|1|133|0.00752	-	-	-	-	COSMIC,TCGA,ICGC,
chr9	134339994	134339994	A	G	intronic	PRRC2B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21260820	-	BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr2	183399346	183399346	T	-	intergenic	PDE1A,DNAJC10	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-,reproductive system phenotype	Cardiovascular malformations,-	ICGC,
chr18	4134330	4134330	G	A	intronic	DLGAP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Schizophrenia  	ICGC,
chr4	127792961	127792961	G	A	intergenic	MIR2054,INTU	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Anorectal malformation	ICGC,
chr14	30115776	30115776	-	GAGA	ncRNA_intronic	MIR548AI	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|2|67|0.02985	-	-	-	-	ICGC,
chr13	23244785	23244785	G	A	intergenic	LINC00540,BASP1P1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr19	16321180	16321180	C	T	exonic	AP1M1	nonsynonymous	SNV	0.0	0.021	-	-	-	-	-	-	-	COSM4500056	-	-	-	-	mortality/aging	-	COSMIC,
chr7	66892919	66892919	C	T	intergenic	LINC01372,LOC102723427	unknown	SNV	-	-	-	0.0002	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	-,-	ICGC,
chrX	125708602	125708602	T	A	intergenic	DCAF12L1,PRR32	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25335323	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	COSMIC,ICGC,
chr2	104688647	104688647	G	A	intergenic	TMEM182,LOC100287010	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	56311055	56311055	C	T	intronic	ERC2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	vision/eye phenotype	-	ICGC,
chr6	94747765	94747765	C	T	intergenic	TSG1,MANEA-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	164157209	164157209	A	G	intergenic	LINC01192,SI	unknown	SNV	-	-	-	-	rs76456118	-	0.000199681	-	0.007	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,Sucrase isomaltase deficiency	ICGC,
chr2	107078266	107078266	A	G	intronic	RGPD3	unknown	SNV	-	-	-	0.0004	rs199560450	-	-	-	-	COSN23915241	-	GACA-CN|1|123|0.00813,LAML-KR|2|205|0.00976	-	-	-	-	COSMIC,COSMIC,ICGC,
chr3	11268712	11268712	G	A	intronic	HRH1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	hematopoietic system phenotype	-	ICGC,
chr20	48760162	48760162	C	T	intronic	TMEM189,TMEM189-UBE2V1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	hematopoietic system phenotype,-	-,-	ICGC,
chr12	82616729	82616729	A	G	intergenic	LOC101928449,CCDC59	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	ICGC,
chr20	12887363	12887363	T	C	ncRNA_intronic	LOC101929486	unknown	SNV	-	-	-	0.1012	rs399736	-	0.120008	-	0.123	-	-	ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488	-	-	-	-	ICGC,
chr9	4254803	4254803	-	A	intronic	GLIS3	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN14683882	-	-	-	-	mortality/aging	Diabetes, permanent neonatal|Diabetes, type 1, resistance to|Neonatal diabetes & congenital hypothyroidism|Neural tube defects	COSMIC,
chr4	172245720	172245720	G	A	intergenic	MIR6082,GALNTL6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,-	-,-	ICGC,
chr11	99323245	99323245	A	C	intronic	CNTN5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	behavior/neurological phenotype	-	ICGC,
chr6	131917388	131917388	-	T	intronic	MED23	unknown	insertion	-	-	-	0.0373	rs147820831	-	0.0391374	-	-	-	-	GACA-JP|1|585|0.00171	-	-	mortality/aging	Intellectual disability  	ICGC,
chr14	87064708	87064708	A	C	intergenic	LOC101928767,LOC283585	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr6	35789827	35789827	-	T	intronic	LHFPL5	unknown	insertion	-	-	-	0.0001	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	behavior/neurological phenotype	Hearing loss, non-syndromic|Hypospadias and anorectal malformation|Nonsyndromic hearing loss, autosomal recessive	ICGC,
chr9	14806635	14806635	G	T	intronic	FREM1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26670823	-	LICA-CN|1|402|0.00249	-	-	integument phenotype	Bifid nose, renal agenesis & anorectal malformations syndrome|Craniosynostosis, isolated metopic|Diaphragmatic hernia, congenital|Manitoba-oculo-tricho-anal syndrome |Manitoba-oculo-tricho-anal syndrome with renal agenesis|Manitoba-oculo-tricho-anal syndrome with renal dysplasia	COSMIC,ICGC,
chr5	152594438	152594438	A	G	intergenic	LOC101927134,GRIA1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	-,Intellectual disability  	ICGC,
chr18	54708339	54708339	G	A	intergenic	WDR7,LINC-ROR	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24931108	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	COSMIC,ICGC,
chr1	171713734	171713734	G	C	intergenic	VAMP4,METTL13	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-UK|1|141|0.00709	-	-	-,-	-,-	ICGC,
chr13	59119428	59119428	G	A	intergenic	LOC101926897,DIAPH3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|3|183|0.01639	-	-	-,-	-,Autism  |Auditory neuropathy spectrum disorder|Auditory neuropathy	ICGC,
chr3	366767	366767	G	A	intronic	CHL1	unknown	SNV	-	-	-	0.1009	rs35556277	-	0.180312	-	0.152	-	-	LAML-KR|1|205|0.00488	-	-	behavior/neurological phenotype	Tetralogy of Fallot|Schizophrenia, association with|Potential protein deficiency|Mental retardation & microcephaly |Mental retardation|Learning difficulties, microcephaly and growth retardation|Intellectual disability and epilepsy	ICGC,
chr5	160943422	160943422	A	G	intronic	GABRB2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5594292	-	ESAD-UK|1|301|0.00332,LIRI-JP|1|258|0.00388	-	-	skeleton phenotype	-	COSMIC,ICGC,
chr12	31877627	31877627	G	A	intronic	AMN1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7366410	-	PACA-AU|1|391|0.00256	-	-	-	-	COSMIC,ICGC,
chr3	19325444	19325444	A	C	intronic	KCNH8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr11	103760151	103760151	A	G	intergenic	MIR4693,PDGFD	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,Intracerebral hemorrhage, association with	ICGC,
chrX	101901984	101901984	G	A	intronic	ARMCX5-GPRASP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr16	83933143	83933143	G	A	exonic	MLYCD	nonsynonymous	SNV	0.282	0.119	9.613e-06	-	-	-	-	-	-	-	STAD|1|395|0.00253,STES|1|395|0.00253	-	-	-	cardiovascular system phenotype	Malonyl-CoA decarboxylase deficiency	TCGA,
chr2	62847498	62847498	A	G	intergenic	TMEM17,EHBP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	ICGC,
chr5	19603329	19603329	T	C	intronic	CDH18	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25756155	-	EOPC-DE|1|202|0.00495	-	-	-	Anorectal malformation	COSMIC,ICGC,
chr1	60689981	60689981	A	G	intergenic	C1orf87,LOC101926964	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr4	68558530	68558530	GG	AA	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr1	41093262	41093262	C	T	intronic	RIMS3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8469461	-	OV-AU|1|93|0.01075	-	-	-	Autism 	COSMIC,ICGC,
chr13	52532412	52532412	G	A	intronic	ATP7B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Wilson disease with neuropsychiatric decline|Wilson disease with early and/or severe hepatic disease|Wilson disease|Whispering dysphonia |Liver disease, association with|Increased expression   |Hypoceruloplasminaemia.|Hepatocerebral degeneration|Decreased expression|Alzheimer disease, association with.|Alzheimer disease, association with	ICGC,
chr7	123244702	123244702	T	C	intronic	ASB15	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23566466	-	ESAD-UK|1|301|0.00332	-	-	-	-	COSMIC,ICGC,
chr6	91525093	91525093	C	T	intergenic	MAP3K7,MIR4643	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	-,-	ICGC,
chr2	115745380	115745380	-	TTTTTTTTTTTT	intronic	DPP10	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	-	Autism spectrum disorder	ICGC,
chr3	140127705	140127705	C	T	intronic	CLSTN2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Improved memory performance, association with	ICGC,
chr5	101992127	101992127	G	A	ncRNA_intronic	LINC00491	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr12	40875480	40875480	C	A	exonic	MUC19	unknown	SNV	-	-	0	0.0011	rs533737300	-	0.00119808	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-	-	ICGC,
chr2	113858810	113858810	C	T	intergenic	IL1F10,IL1RN	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,integument phenotype	-,Interleukin 1 receptor antagonist deficiency|Ischaemic stroke, association with.|Keratoconus, familial|Lichen sclerosus, increased severity, association|Stroke, association with|Systemic inflamation, association with|Ulcerative colitis in Crohn's disease, association with|Wilson disease, early onset, association with|Infertility, in males, association with.|Immune thrombocytopaenia, association with|IL-6 and C-reactive protein levels, association with|Alopecia areata, association with|Ankylosing spondylitis, association with|Cancer, association with.|Carotid atherosclerosis, association with|Chronic multifocal osteomyelitis|Decreased mean coronary artery plaque area in atherosclerosis, association with|Febrile seizures, association with|Hypertension in pregnancy, inceased risk	ICGC,
chr3	94727429	94727429	C	T	intergenic	LINC00879,MTHFD2P1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20853023	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr2	6731962	6731962	C	T	intergenic	LINC01247,LINC01246	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr16	64843711	64843711	C	T	intergenic	NONE,CDH11	unknown	SNV	-	-	-	0.0001	rs747338173	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	-,-	ICGC,
chr13	29745938	29745938	GG	AA	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr5	143551474	143551474	C	T	intronic	KCTD16	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr11	51371761	51371761	A	G	intergenic	LOC646813,OR4A5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7012681	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	COSMIC,ICGC,
chr6	18192990	18192990	G	A	intronic	KDM1B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	other phenotype	-	ICGC,
chr17	3148161	3148161	T	C	intergenic	OR1D4,OR3A2	unknown	SNV	-	-	-	0.0005	rs187845797	-	0.00299521	-	-	-	-	LAML-KR|1|205|0.00488	-	-	-,-	-,-	ICGC,
chr14	43481721	43481721	T	G	intergenic	LRFN5,FSCB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Short stature|Developmental delay, seizures & learning problems ,Tourette syndrome 	ICGC,
chr12	34799255	34799255	G	A	intergenic	ALG10,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|3|183|0.01639	-	-	-,-	-,-	ICGC,
chr4	64567587	64567587	T	C	intergenic	LPHN3-AS1,TECRL	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN192170	-	BRCA-UK|1|141|0.00709,BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,COSMIC,ICGC,
chr7	157843949	157843949	C	T	intronic	PTPRN2	unknown	SNV	-	-	-	3.23e-05	rs531323340	-	0.000199681	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	homeostasis/metabolism phenotype	-	ICGC,
chr6	118368422	118368422	T	G	intronic	SLC35F1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	-	ICGC,
chr7	132398090	132398090	G	A	ncRNA_intronic	FLJ40288	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr14	45219899	45219899	T	A	intergenic	FSCB,C14orf28	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	Tourette syndrome ,Schizophrenia	ICGC,
chr21	18610258	18610258	A	T	intergenic	LINC00478,C21orf37	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr11	102937064	102937064	T	C	exonic	DCUN1D5	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM6484800	-	-	-	-	-	-	COSMIC,
chr12	13889775	13889775	G	A	intronic	GRIN2B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Mental retardation, behavioural anomalies & abnormal EEG|Potential protein deficiency|Schizophrenia, association with|Schizophrenia, association with.|West syndrome|Mental retardation with behavioural anomalies|Intellectual disability  |Huntington disease, earlier onset in females, association with|Focal epilepsy & intellectual disability|Autism spectrum disorder|Autism|Alzheimer disease, increased risk, association with	ICGC,
chr2	203156910	203156910	T	G	intronic	NOP58	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	CMDI-UK|1|136|0.00735	-	-	-	-	ICGC,
chr5	82240046	82240046	G	A	intergenic	LINC01338,TMEM167A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,homeostasis/metabolism phenotype	-,-	ICGC,
chr12	21114793	21114793	A	G	intergenic	SLCO1B3,SLCO1B7	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23486081	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	Rotor syndrome|Decreased protein expression|Altered substrate specificity,Schizophrenia	COSMIC,ICGC,
chr4	189152803	189152803	C	T	intergenic	TRIML1,LINC01060	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr4	164548142	164548142	G	A	intronic	MARCH1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype	-	ICGC,
chr3	113213204	113213204	T	C	intronic	SPICE1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	Bone mineral density, association with 	ICGC,
chr12	97872217	97872217	A	C	ncRNA_intronic	RMST	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr22	30851326	30851326	C	T	intergenic	MTFP1,SEC14L3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr15	101932632	101932632	G	T	intronic	PCSK6	unknown	SNV	-	-	-	0.2086	rs4965842	-	0.17512	-	0.196	COSN27609333	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging	Handedness, association with	COSMIC,ICGC,
chr11	105350742	105350742	-	A	intergenic	CARD18,GRIA4	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PACA-AU|1|391|0.00256	-	-	-,integument phenotype	-,-	ICGC,
chr18	35336464	35336464	G	A	intergenic	MIR4318,LINC00669	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr7	117259348	117259348	C	A	intronic	CFTR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging	Pancreatitis, chronic, increased risk|Non-obstructive azoospermia|Obstructive azoospermia|Obstructive azoospermia.|Oligospermia|Ovulatory infertility.|Pancreatic cancer, increased risk |Pancreatic sufficient cystic fibrosis|Pancreatitis|Pancreatitis, chronic|Pancreatitis, chronic ?|Pancreatitis, chronic, association with.|Metabolic alkalosis|Meconium ileus, lethal|Lung disease|Hypochloraemic alkalosis|Inadequate weight gain|Increased expression|Increased risk of pancreatitis in patient with mild CF|Infertility |Infertility, association with|Inflammatory bowel disease|Leukemia, risk, association with|Lung cancer|Lung cancer risk, association with|Lung cancer, reduced risk|Hypertrypsinaemia, neonatal|Pancreatitis, chronic.|RA-associated diffuse bronchiectasis/rheumatoid arthritis|Recurrent pancreatitis|Recurrent pancreatitis, and disseminated bronchiectasis|Reduced bone mineral density in cystic fibrosis|Reduced expression|Respiratory symptoms of cystic fibrosis|Respiratory/pancreatic disease, association with|Rheumatoid arthritis-associated diffuse bronchiectasis|Sarcoidosis, susceptibility to|Transient reactive papulotranslucent acrokeratoderma.|Tubal infertility.|Pulmonary disease|Pseudo-Bartter's syndrome|Proteinuria in cystic fibrosis, association with|Pancreatitis, early acute.|Pancreatitis, idiopathic|Pancreatitis, idiopathic chronic  |Pancreatitis, increased risk|Pancreatitis, necrotizing.|Pancreatitis.|Phenotype modifier|Phenotype modifier, association with|Primary sclerosing cholangitis|Primary sclerosing cholangitis, protection against|Prostate cancer protection|Typhoid fever, protection against, association with|Abs of vas def, recurr pancreatitis, and diss bronchiectasis|Azoospermia with congenital absence of the vas deferens|Azoospermia with congenital absence of vas deferens|Azoospermia without CAVD and oligospermia|Azoospermia without congenital absence of the vas deferens|Azoospermia.|Bronchial asthma, association with|Bronchial asthma, association with.|Bronchiectasis|Bronchiectasis, association with|Bronchiectasis, association with.|Bronchiectasis, disseminated.|Azoospermia with CAVD and Oligospermia|Azoospermia with and without CAVD and Oligospermia|Azoospermia with and without CAVD|Allergic bronchopulmonary aspergillosis, association with.|Altered expression|Altered splicing|Altered transcription factor binding|Anorectal malformation|Asthenospermia|Asthma|Asthma / chronic pancreatitis|Asthma-like bronchopathy|Asthma.|Azoospermia |Bronchiectasis.|Bronchitis|Cystic fibrosis, atypical|Cystic fibrosis, atypical.|Cystic fibrosis, modifier of|Cystic fibrosis.|Decreased transcription|Diabetic complications in pregnancy, association with.|Disseminated bronchiectasis|Elevated sweat chloride concentration|Fertility advantage in males, association with|Foetal hyperechogenic bowel|Hyperlipidemic pancreatitis, association with|Hypertrypsinaemia, low sweat chloride|Cystic fibrosis, association with|Cystic fibrosis related liver disease|CFTR-related disorder|Chronic obstructive pulmonary disease, reduced severity, association|Chronic pancreatitis, increased risk|Chronic pulmonary disease|Con abs of vas deferens, and disseminated bronchiectasis|Congenital absence of vas deferens|Congenital absence of vas deferens and bronchiectasis|Congenital absence of vas deferens, association|Crohn's disease, protection against, association with|Cystic fibrosis|Cystic fibrosis & sickle cell-beta thalassaemia|Cystic fibrosis related disorder	ICGC,
chr3	63155766	63155766	A	G	intergenic	LINC00698,SYNPR	unknown	SNV	-	-	-	0.3247	rs7642056	-	0.35603	-	0.442	-	-	LAML-KR|1|205|0.00488	-	-	-,no phenotypic analysis	-,-	ICGC,
chr18	978971	978971	C	G	intergenic	ADCYAP1,LINC00470	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	Sudden infant death syndrome, association with,-	ICGC,
chr7	124856967	124856967	G	A	ncRNA_intronic	LOC101928283	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr13	63147912	63147912	T	C	intergenic	LINC00358,LINC00448	unknown	SNV	-	-	-	0.4242	rs2809622	-	0.368011	-	0.529	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr5	137028516	137028516	-	GACACA	intronic	KLHL3	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	Pseudohypoaldosteronism type II|Hyperkalaemic hypertension.|Hyperkalaemic hypertension	ICGC,
chr2	125772670	125772670	G	C	intergenic	CNTNAP5,GYPC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	Autism,Glycophorin C variant|Gerbich-negative blood group|Elliptocytosis|Duch blood group	ICGC,
chr14	29363806	29363806	G	A	intergenic	C14orf23,MIR548AI	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,-	-,-	ICGC,
chr11	80483910	80483910	A	-	intergenic	LOC101928944,LOC101928989	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr1	108308868	108308868	C	T	intronic	VAV3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype	Autism|Schizophrenia, reduced risk, association with 	ICGC,
chr9	102080120	102080120	A	T	intergenic	SEC61B,NAMA	unknown	SNV	-	-	-	-	rs572758927	-	0.0157748	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr7	142146284	142146284	G	-	intergenic	TRY2P,MTRNR2L6	unknown	deletion	-	-	-	-	-	-	-	-	-	COSN25392609	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	COSMIC,ICGC,
chr9	128926177	128926177	C	T	intergenic	PBX3,LOC101929116	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Congenital heart defects,-	ICGC,
chr14	90414934	90414934	T	A	intronic	EFCAB11	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	-	ICGC,
chr6	38809519	38809519	G	T	intronic	DNAH8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Primary ciliary dyskinesia  	ICGC,
chr4	38376106	38376106	-	TTGT	intergenic	TBC1D1,LINC01258	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|6|67|0.08955,PBCA-US|1|186|0.00538	-	-	normal phenotype,-	Obesity, association with,-	ICGC,
chr16	6395570	6395570	C	T	intronic	RBFOX1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Muscular and feet abnormalities|Mental retardation|Epilepsy, rolandic  |Epilepsy|Developmental delay, facial dysmorphism  |Developmental delay and transposition of the great arteries|Developmental delay and diplegia|Developmental delay and craniosynostosis|Developmental delay  |Cardiac defects|Cardiac abnormalities, micrognathia and scoliosis|Autism spectrum disorder|Autism|Attention deficit hyperactivity disorder 	ICGC,
chr3	163900711	163900711	CC	TT	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr3	158839581	158839581	T	G	intronic	IQCJ,IQCJ-SCHIP1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN18091197	-	-	-	-	-,-	-,-	COSMIC,
chr7	51612242	51612242	C	T	intergenic	COBL,POM121L12	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	nervous system phenotype,-	-,-	ICGC,
chr2	182078846	182078846	C	T	intergenic	UBE2E3,MIR4437	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6156986	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr19	42853723	42853723	C	A	exonic	MEGF8	nonsynonymous	SNV	0.411	0.657	-	-	-	-	-	-	-	COSM997352	UCEC|1|248|0.00403	UCEC-US|1|250|0.00400	-	-	hematopoietic system phenotype	Carpenter syndrome	COSMIC,COSMIC,COSMIC,TCGA,ICGC,
chr4	43288650	43288650	G	A	intergenic	GRXCR1,KCTD8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-AU|1|391|0.00256	-	-	behavior/neurological phenotype,-	Hearing impairment, nonsyndromic, autosomal recessive,-	ICGC,
chr12	10282615	10282615	G	T	exonic	CLEC7A	nonsynonymous	SNV	0.029	0.206	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	mortality/aging	Pneumonia, in HIV-positive patients, association with.|Immunodeficiency.|Elevated expression in IBD, association with|Candida colonisation in hematopoietic stem cell transplantees|Aspergillosis in hematopoietic stem cell transplantees, association with	ICGC,
chr13	101844270	101844270	G	T	exonic	NALCN	nonsynonymous	SNV	0.004	1.0	-	-	-	-	-	-	-	COSM1639283	-	-	-	-	mortality/aging	Cardiovascular malformations|Facial dysmorphism, hypotonia, speech impairment, constipation and intellectual disability|Infantile neuroaxonal dystrophy with facial dysmorphism|Schizophrenia	COSMIC,COSMIC,
chr4	19466920	19466920	C	T	intergenic	LCORL,SLIT2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Schizophrenia  	ICGC,
chr8	121678556	121678556	A	G	intronic	SNTB1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr6	132215162	132215162	T	C	UTR3	ENPP1	unknown	SNV	-	-	-	0.1515	rs9483350	-	0.209265	-	0.167	-	-	COCA-CN|1|321|0.00312	Arterial_calcification_of_infancy|Hypophosphatemic_Rickets,_Recessive	-	integument phenotype	Major cardiovascular events in high risk individuals|Myelopathy (OPLL)|Myelopathy (OPLL), association with|Obesity & type 2 diabetes, association with|Obesity in metabolic syndrome, association with|Obesity, association with|Pseudoxanthoma elasticum|Rickets, hypophosphataemic|Rickets, hypophosphataemic & OPLL|Rickets, hypophosphataemic, autosomal recessive|Stroke, reduced risk in sickle cell anaemia|Liver damage in NAFLD|Insulin resistance, association with|Chondrocalcinosis, association with.|Cole disease|Decreased kidney function|Diabetes, association with |Diabetes, type 2, association with.|Diabetic nephropathy, increased risk, association with|Generalized arterial calcification of infancy|Generalized arterial calcification of infancy and pseudoxanthoma elasticum|Hypertriglyceridaemia in males, association with|Hypertriglyceridemia in males, association with|Idiopathic infantile arterial calcification	ClinVar,ICGC,
chr2	107562974	107562974	G	A	intergenic	ST6GAL2,RGPD4-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538,MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr13	98022792	98022792	G	A	intronic	MBNL2	unknown	SNV	-	-	-	6.52e-05	rs563244837	-	0.000399361	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	skeleton phenotype	-	ICGC,
chrX	108496362	108496362	C	T	intergenic	LOC101928358,GUCY2F	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,vision/eye phenotype	-,-	ICGC,
chr2	145630117	145630117	C	T	ncRNA_intronic	TEX41	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr10	109990216	109990216	G	A	intergenic	SORCS1,RNU6-53P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	other phenotype,-	Autism ,-	ICGC,
chr13	110888714	110888714	T	C	intronic	COL4A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	mortality/aging	Porencephaly, intracerebral haemorrhage & white matter disease|Porencephaly, familial|Porencephaly, bilateral|Porencephaly and schizencephaly|Myocardial infarction, protection, association with|Porencephaly, prenatal|Porencephaly, unilateral|Post-ictal hemiparesis|Schizencephaly, bilateral|Schizencephaly, unilateral|Small vessel disease|Stroke, childhood-onset|Walker-Warburg syndrome|Muscle-eye-brain disease|Intraventricular haemorrhage|Acute urinary retention|Angiopathy, nephropathy, aneurysms & muscle cramps|Anterior segment dysgenesis|Arterial stiffness|Axenfeld-Rieger anomaly|Cardiac defects|Foetal intracerebral haemorrhage|Hemiplegia, infantile|Infantile spasms|Intracerebral haemorrhage|Intracerebral haemorrhage, foetal|Intracerebral haemorrhage, late-onset|Intracranial calcification	ICGC,
chr5	135694091	135694091	A	T	intronic	TRPC7	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16537022	-	PACA-CA|1|268|0.00373	-	-	vision/eye phenotype	-	COSMIC,ICGC,
chr6	468476	468476	G	A	intergenic	IRF4,EXOC2	unknown	SNV	-	-	-	6.583e-05	-	-	-	-	-	COSN25251031	-	MALY-DE|1|241|0.00415	-	-	hematopoietic system phenotype,-	Systemic sclerosis, association with|Skin cancer, increased risk, association with|High nevus count in adolescents, association|Freckles, brown hair and sun sensitivity, association with|Chronic lymphocytic leukaemia  |Acute lymphoblastic leukaemia, in males, association with,-	COSMIC,ICGC,
chr2	151513102	151513102	G	T	intergenic	LOC101929282,RBM43	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21718979	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,Autism spectrum disorder	COSMIC,ICGC,
chr8	100933672	100933672	T	G	intergenic	COX6C,RGS22	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21826411	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr8	132065246	132065246	G	A	intergenic	ADCY8,EFR3A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype,-	Myocardial infarction  ,Autism|Potential protein deficiency	ICGC,
chr15	65738415	65738415	-	A	UTR3	DPP8	unknown	insertion	-	-	-	0.0034	-	-	-	-	-	COSN27508693	-	-	-	-	-	-	COSMIC,
chr11	92396478	92396478	A	G	intronic	FAT3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	vision/eye phenotype	Autism spectrum disorder	ICGC,
chr2	138461990	138461990	G	A	intergenic	THSD7B,LOC101928273	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,-	Autism spectrum disorder,-	ICGC,
chr2	222097552	222097552	G	T	intergenic	MIR4268,EPHA4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8985093	-	OV-AU|1|93|0.01075	-	-	-,reproductive system phenotype	-,Amyotrophic lateral sclerosis, reduced disease severity	COSMIC,ICGC,
chr22	48642263	48642263	G	A	intergenic	LOC284930,MIR3201	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr22	32873307	32873307	T	-	intronic	FBXO7	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	hematopoietic system phenotype	Mean cell haemoglobin, association with|Parkinson disease|Parkinsonian-pyramidal syndrome	ICGC,
chr2	221005158	221005158	C	T	intergenic	MIR4268,EPHA4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,reproductive system phenotype	-,Amyotrophic lateral sclerosis, reduced disease severity	ICGC,
chr10	17644632	17644632	G	A	intronic	PTPLA	unknown	SNV	-	-	-	0.0018	rs141491139	-	0.00299521	-	0.007	-	-	ESAD-UK|1|301|0.00332	-	-	-	Myopathy, congenital	ICGC,
chr7	78556146	78556146	T	-	intronic	MAGI2	unknown	deletion	-	-	-	0.0135	rs369720946	-	-	-	-	COSN27262798	-	BTCA-SG|6|71|0.08451	-	-	mortality/aging	Seizures|Schizophrenia|Myoclonic epilepsy |Infantile spasms in Williams-Beuren syndrome|Infantile spasms|Developmental delay & microcephaly|Developmental delay  |Developmental and/or speech and/or behavioural problems	COSMIC,ICGC,
chr13	71297315	71297315	G	A	intergenic	ATXN8OS,LINC00348	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,-	Huntington disease  |Spinocerebellar ataxia 8,-	ICGC,
chr12	72019534	72019534	C	G	intronic	ZFC3H1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5186935	-	ESAD-UK|1|301|0.00332	-	-	-	-	COSMIC,ICGC,
chr12	67858272	67858272	C	T	intergenic	CAND1,LOC100507175	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Potential protein deficiency,-	ICGC,
chr16	15221868	15221868	C	T	ncRNA_exonic	LOC399491,PKD1P6	unknown	SNV	-	-	-	-	-	-	-	-	-	COSM6217736	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,COSMIC,ICGC,
chr3	164500697	164500697	G	T	intergenic	LINC01192,SI	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,Sucrase isomaltase deficiency	ICGC,
chr9	107162893	107162893	G	C	intergenic	SMC2,OR13F1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15728518	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chrX	147434237	147434237	T	G	intergenic	FMR1NB,AFF2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,integument phenotype	-,Premature ovarian failure|Mental retardation  |Intellectual disability, X-linked|Intellectual disability, hypotonia & dysmorphic features|Intellectual disability, ataxia & bilateral inguinal hernia|Intellectual disability & autism|Fragile site, FRAXE|Developmental delay  |Autism spectrum disorder|Autism|Altered expression	ICGC,
chr6	37864342	37864342	-	ATCT	intronic	ZFAND3	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	Diabetes, type 2, association with	ICGC,
chr1	103028307	103028307	G	A	intergenic	OLFM3,COL11A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Stickler syndrome, type 2|Stickler syndrome|Robin sequence |Osteoarthritis, early-onset|Marshall syndrome|Marshall / Stickler syndrome|Lumbar disc herniation, association with|Fibrochondrogenesis|Deafness  	ICGC,
chr6	116000762	116000762	C	T	intergenic	HS3ST5,FRK	unknown	SNV	-	-	-	0.0596	rs12665518	-	0.0477236	-	0.051	-	-	MELA-AU|1|183|0.00546	-	-	-,homeostasis/metabolism phenotype	-,Potential protein deficiency	ICGC,
chrX	38203313	38203313	C	T	intergenic	RPGR,OTC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	vision/eye phenotype,integument phenotype	Retinitis pigmentosa, X-linked|Leber congenital amaurosis|Cone-rod dystrophy?,Alzheimer disease, association with|Hyperammonaemia|Ornithine transcarbamylase deficiency|Ornithine transcarbamylase deficiency & chronic granulomatous disease	ICGC,
chr1	69584972	69584972	G	T	intergenic	DEPDC1-AS1,LRRC7	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1453400	-	LIRI-JP|1|258|0.00388	-	-	-,mortality/aging	-,-	COSMIC,ICGC,
chr13	94840902	94840902	C	G	intronic	GPC6	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15460110	-	OV-AU|1|93|0.01075	-	-	-	Omodysplasia|Pancreatic cancer 	COSMIC,COSMIC,ICGC,
chr3	81554844	81554844	T	C	intronic	GBE1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5542866	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging	Potential protein deficiency|Polyglucosan body disease, relapsing-remitting form|Polyglucosan body disease, adult|Lethal multiple pterygium syndrome|Glycogen storage disease 4, non-lethal neuromuscular|Glycogen storage disease 4, neonatal|Glycogen storage disease 4|Autism spectrum disorder|Adult polyglucosan body disease	COSMIC,ICGC,
chrX	30457216	30457216	C	T	intergenic	NR0B1,CXorf21	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	reproductive system phenotype,-	XY gonadal dysgenesis|Sex reversal, dosage-sensitive|Oligospermia.|Isolated mineralocorticoid deficiency, association with|Hypogonadotropic hypogonadism, short stature and attention deficit disorder.|Hypogonadotropic hypogonadism|Gonadal dysgenesis|Disorder of sex development|Autism spectrum disorder|Adrenal insufficiency|Addison disease|Adrenal failure without enzymatic defects|Adrenal hypoplasia|Adrenal hypoplasia & hypogonadotrophic hypogonadism|Adrenal hypoplasia & mental retardation|Adrenal hypoplasia with neurofibromatosis 1 features|Adrenal hypoplasia, late-onset,-	ICGC,
chr3	29433746	29433746	G	A	intronic	RBMS3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr6	45441150	45441150	G	T	intronic	RUNX2	unknown	SNV	-	-	-	0.0007	rs148911702	-	0.00419329	-	0.007	-	-	LAML-KR|1|205|0.00488	-	-	integument phenotype	Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly|Lack of typical supernumerary teeth, in cleidocranial dysplasia.|Femoral neck-bone mineral density, association with|Craniosynostosis, single-suture|Craniosynostosis|Cleidocranial dysplasia & hypophosphatasia|Cleidocranial dysplasia	ICGC,
chr20	50874039	50874039	G	A	intergenic	ZFP64,LOC101927700	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr10	109992200	109992200	G	A	intergenic	SORCS1,RNU6-53P	unknown	SNV	-	-	-	6.471e-05	rs750120303	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	other phenotype,-	Autism ,-	ICGC,
chr4	126347435	126347435	G	A	intronic	FAT4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6795983	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging	Periventricular neuronal heterotopia|Schizophrenia	COSMIC,ICGC,
chrX	33063728	33063728	T	G	intronic	DMD	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN18884009	-	-	-	-	mortality/aging	Muscular dystrophy, Duchenne & Charcot-Marie-Tooth disease|Muscular dystrophy, Duchenne & autism|Muscular dystrophy, Duchenne|Muscular dystrophy, Becker.|Muscular dystrophy, Becker with cognitive impairment|Muscular dystrophy, Becker|Muscular dystrophy, Duchenne-like|Muscular dystrophy, Duchenne, epilepsy, macroglossia and mental retardation|Muscular dystrophy, Duchenne.|Muscular dystrophy, Duchenne/Becker|Muscular dystrophy, intermediate|Myopathy  |Potential protein deficiency|Schizophrenia|Muscular dystrophy, atypical|Muscular dystrophy & intellectual disability|Muscular dystrophy|Autism & neuromotor delay|Autism spectrum disorder|Behavioural issues|Cardiomyopathy, dilated|Cardiomyopathy, dilated, X-linked|Cardiomyopathy, dilated.|Dystrophinopathy|Elevated creatine kinase level|Mild Becker muscular dystrophy|Mental retardation, X-linked|Isolated cardiomyopathy|Increased serum creatine kinase levels|Global developmental delay/intellectual disability|Exertional myalgia, muscle stiffness & myoglobinuria	COSMIC,
chr9	106344856	106344856	G	T	intergenic	LOC101928496,LOC101928523	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16112799	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	COSMIC,ICGC,
chr17	8076890	8076890	T	G	UTR3	TMEM107	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN511177	-	-	-	-	mortality/aging	-	COSMIC,
chr6	109465605	109465605	T	-	intronic	CEP57L1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312,GACA-CN|1|123|0.00813	-	-	-	-	ICGC,
chr12	16816745	16816745	C	T	intergenic	LMO3,SKP1P2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	-,-	ICGC,
chr4	66151088	66151088	T	C	intergenic	LOC401134,EPHA5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25056932	-	MALY-DE|1|241|0.00415	-	-	-,nervous system phenotype	-,Mental retardation|Dravet syndrome  |Attention deficit hyperactivity disorder & learning disabilities|Alzheimer disease  	COSMIC,ICGC,
chr9	21102953	21102953	C	-	intergenic	IFNB1,IFNW1	unknown	deletion	-	-	-	-	-	-	-	-	-	COSN26460637	-	LIAD-FR|1|32|0.03125	-	-	hematopoietic system phenotype,-	Cerebral malaria, predisposition to ,-	COSMIC,ICGC,
chr17	8196619	8196619	C	T	intronic	SLC25A35	unknown	SNV	-	-	-	6.464e-05	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr12	101986036	101986036	G	A	intergenic	SPIC,MYBPC1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	-,Lethal congenital contractural syndrome 4|Distal arthrogryposis type I|Colorectal cancer, increased risk, association with	ICGC,
chr13	63905574	63905574	T	C	intergenic	LINC00448,LINC00395	unknown	SNV	-	-	-	0.3165	rs2324284	-	0.402955	-	0.145	-	-	ESAD-UK|2|301|0.00664	-	-	-,-	-,-	ICGC,
chr16	3251828	3251828	C	T	intergenic	ZNF213,OR1F1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Autism,-	ICGC,
chrX	126745416	126745416	A	G	intergenic	PRR32,ACTRT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr2	235896474	235896474	A	T	intronic	SH3BP4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1831837	-	LIRI-JP|1|258|0.00388	-	-	-	Peripheral neuropathy  	COSMIC,ICGC,
chr4	144446682	144446682	A	G	exonic	SMARCA5	nonsynonymous	SNV	0.804	0.92	4.062e-06	-	-	-	-	-	-	COSM4770283	-	-	-	-	integument phenotype	-	COSMIC,
chr11	122307449	122307449	C	T	intergenic	MIR100HG,UBASH3B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr16	19798187	19798187	G	A	intronic	IQCK	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25754549	-	EOPC-DE|1|202|0.00495	-	-	-	-	COSMIC,ICGC,
chr5	177089395	177089395	G	A	ncRNA_intronic	LOC202181	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr5	105799092	105799092	-	TAG	intergenic	RAB9BP1,LOC102467213	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr17	53945920	53945920	C	T	intergenic	PCTP,ANKFN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	immune system phenotype,-	-,-	ICGC,
chr13	24397961	24397961	T	-	intronic	MIPEP	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	PAEN-IT|1|37|0.02703	-	-	-	-	ICGC,
chr11	124632599	124632599	C	T	ncRNA_intronic	LOC101929340	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr8	63137654	63137654	G	A	intergenic	MIR4470,NKAIN3	unknown	SNV	-	-	-	6.468e-05	rs749211297	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,Dravet syndrome   	ICGC,
chrX	46496647	46496647	G	A	intronic	SLC9A7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-	-	ICGC,
chrX	111463515	111463515	A	T	intronic	ZCCHC16	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	Autism spectrum disorder	ICGC,
chrX	124624605	124624605	G	A	intergenic	LOC100129520,LOC101928495	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr6	92629371	92629371	A	G	intergenic	CASC6,EPHA7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,nervous system phenotype	-,Development delay and dysmorphic features|Leukemia, risk, association with 	ICGC,
chr10	31067819	31067819	G	A	intergenic	SVILP1,ZNF438	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr6	146450871	146450871	A	G	intronic	GRM1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	integument phenotype	Schizophrenia / bipolar disorder |Schizophrenia  |Cerebellar ataxia, autosomal recessive congenital|Attention deficit hyperactivity disorder	ICGC,
chr8	139019331	139019331	T	C	intergenic	NONE,FAM135B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr7	82019680	82019680	G	A	intronic	CACNA2D1	unknown	SNV	-	-	-	-	rs752830292	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	behavior/neurological phenotype	Short QT syndrome|Schizophrenia  |Histiocytoid cardiomyopathy|Epileptic encephalopathy  |Brugada syndrome    	ICGC,
chr2	31113120	31113120	C	T	intergenic	CAPN13,GALNT14	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Leukemia, risk, association with ,-	ICGC,
chr13	64019758	64019758	-	AT	intergenic	LINC00448,LINC00395	unknown	insertion	-	-	-	7.349e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr10	86826458	86826458	A	G	intergenic	CCSER2,LOC101929624	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr10	43358452	43358452	C	T	intergenic	BMS1,MIR5100	unknown	SNV	-	-	-	6.457e-05	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	Aplasia cutis congenita,-	ICGC,
chr18	7636565	7636565	G	A	intronic	PTPRM	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	cardiovascular system phenotype	Potential protein deficiency	ICGC,
chr8	62892375	62892375	A	T	intergenic	MIR4470,NKAIN3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,Dravet syndrome   	ICGC,
chr11	122213539	122213539	G	A	intergenic	MIR100HG,UBASH3B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	239830194	239830194	T	C	intronic	CHRM3	unknown	SNV	-	-	-	3.229e-05	-	-	-	-	-	COSN7988025	-	PACA-CA|1|268|0.00373	-	-	vision/eye phenotype	Autistic disorder|Bladder malformation|Diabetes, type 2, increased risk, association |Tetralogy of Fallot	COSMIC,COSMIC,ICGC,
chr7	56682955	56682955	C	T	intergenic	LOC101928401,LOC100130849	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,-	-,-	ICGC,
chr2	17247110	17247110	G	A	intergenic	FAM49A,RAD51AP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,-	-,-	ICGC,
chr2	19436403	19436403	C	T	intergenic	NT5C1B-RDH14,MIR4757	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-,-	-,-	ICGC,
chr13	22875838	22875838	C	A	intergenic	LINC00540,BASP1P1	unknown	SNV	-	-	-	0.5311	rs9506831	-	0.513179	-	0.522	-	-	LAML-KR|1|205|0.00488	-	-	-,-	-,-	ICGC,
chr12	30222795	30222795	T	C	intergenic	TMTC1,IPO8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	CMDI-UK|1|136|0.00735	-	-	-,-	-,-	ICGC,
chr13	51130894	51130894	G	A	intergenic	DLEU1,DLEU7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-,-	-,Chronic lymphocytic leukaemia  	ICGC,
chr11	120122924	120122924	T	C	ncRNA_intronic	LOC649133	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-	-	ICGC,
chr5	81926476	81926476	C	T	intergenic	ATP6AP1L,MIR3977	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,-	-,-	ICGC,
chr18	75838115	75838115	G	A	intergenic	LINC01029,SALL3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,-	ICGC,
chr9	11961879	11961879	T	C	intergenic	PTPRD-AS2,TYRP1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2307550	-	LIRI-JP|1|258|0.00388	-	-	-,integument phenotype	-,Albinism, oculocutaneous  |Albinism, oculocutaneous 3|Melanesian blond hair	COSMIC,COSMIC,ICGC,
chr8	139976542	139976542	C	A	intergenic	COL22A1,KCNK9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,respiratory system phenotype	-,Birk Barel mental retardation dysmorphism syndrome	ICGC,
chr6	53420245	53420245	C	T	intergenic	GCLC,LOC101927136	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Decreased enzyme activity|Schizophrenia|Renal disease in diabetes mellitus type 1, association with|Myocardial infarction, increased risk, association|Lung cancer, increased risk, association with|Gamma-glutamylcysteine synthetase deficiency|Decreased glutathione levels, association with,-	ICGC,
chr4	146601073	146601073	C	T	upstream	C4orf51	unknown	SNV	-	-	-	0.2742	rs11735022	-	0.246006	-	0.275	-	-	ESAD-UK|2|301|0.00664	-	-	-	-	ICGC,
chr8	139743013	139743013	G	A	intronic	COL22A1	unknown	SNV	-	-	-	-	rs367813012	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr3	161970333	161970333	A	C	intergenic	OTOL1,LINC01192	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr12	52314205	52314205	G	C	intronic	ACVRL1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20589844	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging	Potential protein deficiency|Pulmonary arterial hypertension|Pulmonary hypertension, haemorrhagic telangiectasia-associated|Pulmonary hypertension, primary|Pituitary cancer|Hemorrhagic telangiectasia|Haemorrhagic telangiectasia with brain arteriovenous malformations|Haemorrhagic telangiectasia associated with pulmonary arterial hypertension|Haemorrhagic telangiectasia 2|Haemorrhagic telangiectasia  |Arteriovenous malformations, association with 	COSMIC,ICGC,
chr9	136302989	136302989	T	C	exonic	ADAMTS13	nonsynonymous	SNV	0.027	0.994	-	-	-	-	-	-	-	-	-	GACA-JP|1|585|0.00171	-	-	mortality/aging	Upshaw-Schulman syndrome.|Upshaw-Schulman syndrome|Thrombotic thrombocytopaenic purpura.|Thrombotic thrombocytopaenic purpura|Reduced activity|Phenotype modifier, association with |Microangiopathic haemolytic anaemia and thrombocytopaenia.|Increased risk of death in CAD, association with|ADAMTS13 deficiency & Upshaw-Schulman syndrome|ADAMTS13 deficiency	ICGC,
chr18	69704810	69704810	C	A	intergenic	LOC100505776,CBLN2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,behavior/neurological phenotype	-,-	ICGC,
chr12	121812230	121812230	C	T	intergenic	ANAPC5,RNF34	unknown	SNV	-	-	-	0.0068	rs576613836	-	0.00299521	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	Schizophrenia,-	ICGC,
chr1	48159004	48159004	C	T	intergenic	FOXD2,TRABD2B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	renal/urinary system phenotype,-	-,-	ICGC,
chr2	76127288	76127288	G	A	intergenic	GCFC2,LRRTM4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr5	22504142	22504142	T	A	intronic	CDH12	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5600306	-	LIRI-JP|1|258|0.00388	-	-	-	Lung cancer, susceptibility to, association with	COSMIC,ICGC,
chr10	114298593	114298593	A	G	intronic	VTI1A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16250915	-	PRAD-CA|1|308|0.00325	-	-	mortality/aging	-	COSMIC,ICGC,
chr3	186607567	186607575	TCTTCTTCC	-	intergenic	ADIPOQ,ST6GAL1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493,PBCA-US|3|186|0.01613	-	-	integument phenotype,hematopoietic system phenotype	Ischemic stroke, increased risk|Ischemic stroke, increased risk in females|Low serum adiponectin level, association with|Lower insulin levels, association with|Metabolic syndrome|Metabolic syndrome in diabetes, association with|Myocardial infarction|Nonalcoholic fatty liver disease, association with|Obesity, association with|Obesity, association with.|Obesity, early-onset & metabolic syndrome|Oxidative stress in diabetes|Reduced cord blood adiponectin concentration, association with|Reduced long-chain w3-polyunsaturated fatty acids in serum phospholipids, association with|Serum cholesterol|Triglyceride levels and waist circumference, association with|Insulin resistance, association with|Insulin resistance|Hypertension, association with|Adiponectin deficiency|Adiponectin level, association with|Adiponectin levels in obese patients|Adiponectin levels, association with.|Body mass index and blood pressure, association with|Cardiovascular disease in type 2 diabetes, association with|Chronic kidney disease, in children, association with.|Coronary artery disease, premature, in males, association with.|Coronary heart disease in type 1 diabetes, association with|Diabetes mellitus, type 2, association with|Diabetes, type 2  |Diabetes, type 2, association with |Diabetes, type 2, in obese individuals, association with|Diabetic nephropathy, association with|Higher adiponectin concentrations|Higher fasting insulin levels, association with,-	ICGC,
chr20	6098409	6098409	G	A	intronic	FERMT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	integument phenotype	Kindler syndrome	ICGC,
chr14	52605439	52605439	A	-	intergenic	NID2,PTGDR	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	cellular phenotype,mortality/aging	-,Asthma, association with|Asthma, allergic, association with|Allergy to pollen and mites, association with	ICGC,
chr5	100409580	100409580	C	T	intergenic	ST8SIA4,SLCO4C1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging,-	-,-	ICGC,
chr11	92534925	92534925	G	A	exonic	FAT3	nonsynonymous	SNV	0.0	1.0	-	-	-	-	-	-	-	COSM4561193	-	-	-	-	vision/eye phenotype	Autism spectrum disorder	COSMIC,COSMIC,
chr5	70801389	70801389	C	T	intronic	BDP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Hearing loss  	ICGC,
chr22	44046931	44046931	G	A	intronic	EFCAB6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	Potential protein deficiency	ICGC,
chr1	65819109	65819109	A	G	intronic	DNAJC6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging	Mental retardation, epilepsy & early-onset obesity|Parkinsonism, juvenile|Schizophrenia	ICGC,
chr7	68046417	68046417	-	TAAG	intergenic	LOC102723427,LOC100507468	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr5	87641734	87641734	G	A	ncRNA_intronic	TMEM161B-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr19	56415190	56415190	C	T	intronic	NLRP13	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr20	50051385	50051385	A	G	intronic	NFATC2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype	Developmental delay, facial dysmorphism & skeletal anomalies	ICGC,
chr19	41630694	41630694	C	T	exonic	CYP2F1	synonymous	SNV	-	-	4.156e-06	-	rs772617651	9.12e-06	-	-	-	COSM1318295	LAML|1|197|0.00508	-	-	-	-	Occupational chronic bronchitis, association with|CYP2F1 deficiency	COSMIC,TCGA,
chrX	154096332	154096332	G	A	intronic	F8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Venous thromboembolism, susceptibility to|Haemophilia, transfusion-associated |Haemophilia A|FVIII level|Factor VIII deficiency|F8 inhibitor development|Decreased factor VIII activity|Acquired haemophilia, predisposition to	ICGC,
chr7	112608683	112608683	C	T	ncRNA_intronic	LOC101928036	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr1	72896186	72896186	G	A	intergenic	NEGR1,LINC01360	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,-	Obesity, association with|Dyslexia |Body mass index, association with|Attention deficit hyperactivity disorder,-	ICGC,
chr21	42106963	42106963	A	T	intronic	DSCAM	unknown	SNV	-	-	-	0.0424	rs73224237	-	0.0207668	-	0.007	-	-	ESAD-UK|2|301|0.00664	-	-	mortality/aging	Bipolar disorder, association with 	ICGC,
chr9	37069648	37069648	A	G	intergenic	PAX5,EBLN3	unknown	SNV	-	-	-	0	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	mortality/aging,-	Acute lymphoblastic leukaemia|Autism|Schizophrenia,-	ICGC,
chrX	79800609	79800609	G	T	intergenic	FAM46D,BRWD3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7535714	-	PACA-AU|1|391|0.00256	-	-	-,craniofacial phenotype	-,Rolandic epilepsy |Potential protein deficiency|Mental retardation, X-linked|Intellectual disability & macrocephaly	COSMIC,ICGC,
chr7	67106369	67106369	A	C	intergenic	LINC01372,LOC102723427	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr21	44529340	44529340	G	A	intergenic	U2AF1,CRYAA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,vision/eye phenotype	-,Nuclear cataract, microcornea with axial elongation|Congenital cataract-microcornea syndrome|Congenital cataract type, association with|Congenital cataract|Cataract, nuclear   	ICGC,
chr14	93089683	93089683	A	G	intronic	RIN3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8812393	-	ESAD-UK|1|301|0.00332	-	-	-	-	COSMIC,ICGC,
chr16	66168560	66168560	G	A	intergenic	LINC00922,CDH5	unknown	SNV	-	-	-	0.0060	rs116162746	-	0.00459265	-	0.014	COSN1189384	-	LINC-JP|1|394|0.00254	-	-	-,integument phenotype	-,Autism|Haemorrhagic fever with renal syndrome, reduced severity, association with|Schizophrenia	COSMIC,ICGC,
chr11	4425842	4425842	G	A	intergenic	TRIM21,OR52K2	unknown	SNV	-	-	-	0.2287	rs36049402	-	0.297724	-	0.043	-	-	LAML-KR|1|205|0.00488	-	-	integument phenotype,-	Systemic lupus erythematosus, association with,-	ICGC,
chr6	83157369	83157369	C	T	intergenic	TPBG,UBE3D	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	-,-	ICGC,
chr8	58110325	58110325	A	G	intergenic	IMPAD1,LOC100507651	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6700406	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging,-	Catel-Manzke-like syndrome|Chondrodysplasia & abnormal joint development,-	COSMIC,ICGC,
chr16	17947909	17947909	G	A	intergenic	XYLT1,NPIPA7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Decreased serum glycosaminoglycan levels, association with|Desbuquois dysplasia type 2|Diabetes, type 1, protection, association |Diabetic nephropathy protection |Increased serum XT1 activity in pseudoxanthoma elasticum, association|Short stature & intellectual disability,-	ICGC,
chr9	113083951	113083951	G	A	intronic	TXNDC8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr20	15403965	15403965	C	T	intronic	MACROD2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	Kabuki syndrome|Attention deficit hyperactivity disorder 	ICGC,
chr14	51558454	51558454	G	C	intronic	TRIM9	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17317797	-	ESAD-UK|1|301|0.00332	-	-	-	-	COSMIC,ICGC,
chr14	27974017	27974017	C	T	intergenic	LOC101927081,LINC00645	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr18	71182959	71182959	C	T	intergenic	LOC100505817,FBXO15	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,normal phenotype	-,-	ICGC,
chr19	28526682	28526682	T	C	intergenic	LOC101927151,LOC100420587	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|2|301|0.00664	-	-	-,-	-,-	ICGC,
chr13	109058037	109058037	T	C	intergenic	TNFSF13B,MYO16	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17116142	-	-	-	-	hematopoietic system phenotype,-	Cryoglobulinemia, predisposition, association with |Preeclampsia, association with ,-	COSMIC,
chr16	46631265	46631265	C	T	intronic	SHCBP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	CMDI-UK|1|136|0.00735	-	-	no phenotypic analysis	-	ICGC,
chr15	82382959	82382959	C	T	ncRNA_intronic	LOC101929690	unknown	SNV	-	-	-	-	rs572611251	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-	-	ICGC,
chr3	103778998	103778998	G	A	intergenic	ZPLD1,MIR548A3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21467348	-	BRCA-EU|1|569|0.00176	-	-	-,-	Cerebral cavernous malformations,-	COSMIC,ICGC,
chr10	50054805	50054805	C	T	intronic	WDFY4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	Systemic lupus erythematosus, association with	ICGC,
chr10	84293810	84293810	T	A	intronic	NRG3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15288941	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype	Schizophrenia, association with |Increased ventrolateral PFC activation|Hirschsprung disease  	COSMIC,ICGC,
chr7	106573593	106573593	T	G	intergenic	PIK3CG,PRKAR2B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|2|301|0.00664	-	-	integument phenotype,integument phenotype	Altered platelet volume|Chronic infection and pelvic pain,-	ICGC,
chr1	182070609	182070609	C	T	intergenic	ZNF648,LINC01344	unknown	SNV	-	-	-	-	rs570383098	-	0.000199681	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	195254322	195254322	A	G	intergenic	CDC73,KCNT2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	integument phenotype,-	Potential protein deficiency|Parathyroid carcinoma/adenoma|Parathyroid carcinoma.|Parathyroid carcinoma|Parathyroid cancer|Parathyroid adenoma.|Parathyroid adenoma |Hyperparathyroidism, primary.|Hyperparathyroidism, primary|Hyperparathyroidism, isolated|Hyperparathyroidism-jaw tumour syndrome.|Hyperparathyroidism-jaw tumour syndrome,-	ICGC,
chr13	56885625	56885625	A	C	intergenic	MIR5007,PRR20A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr13	23934709	23934709	G	A	intronic	SACS	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Sacsin-related ataxia|Spastic ataxia|Spastic ataxia, Charlevoix-Saguenay|Spastic paraplegia, non-ataxic, and peripheral neuropathy|Neuropathy, prominent sensorimotor|Muscular dystrophy, limb girdle|Cerebellar ataxia  |Ataxia, early-onset|Ataxia|ARSACS without leg spasticity 	ICGC,
chr3	83099282	83099282	-	TCTC	intergenic	GBE1,LINC00971	unknown	insertion	-	-	-	0.0793	rs112408572	-	-	-	-	-	-	PACA-AU|1|391|0.00256	-	-	mortality/aging,-	Potential protein deficiency|Polyglucosan body disease, relapsing-remitting form|Polyglucosan body disease, adult|Lethal multiple pterygium syndrome|Glycogen storage disease 4, non-lethal neuromuscular|Glycogen storage disease 4, neonatal|Glycogen storage disease 4|Autism spectrum disorder|Adult polyglucosan body disease,-	ICGC,
chr12	16209708	16209708	G	T	intergenic	DERA,SLC15A5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22187786	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr1	10463001	10463001	T	C	intronic	PGD	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN18330722	-	-	-	-	other phenotype	Altered p53 binding	COSMIC,
chr13	47781131	47781131	C	T	intergenic	HTR2A,SUCLA2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	skeleton phenotype,-	Bipolar I disorder, association with|Consolidation of episodic memory, association|Diminished hippocampal novelty processing, association with|Reduced sensitivity to clozapine, association with|Schizophrenia|Schizophrenia, association with|Suicidal behavior, association with|Systemic sclerosis, association with|Autism, association with|Attention deficit hyperactivity disorder, association with.|Affinity for and potency of atypical antipsychotic drugs, association|Age of onset, in temporal lobe epilepsy, association with.|Alcohol dependence and addiction, association with|Altered affinity for atypical antipsychotic drugs|Altered mRNA expression|Altered potency of atypical antipsychotic drugs|Altered splicing  |Anorexia nervosa, association with,Autism|Encephalomyopathic mitochondrial DNA depletion & methylmalonic aciduria|Encephalomyopathy & mitochondrial DNA depletion|Muscle hypotonia, dystonia, failure to thrive, sensorineural deafness, and dysmorphism|Schizophrenia  	ICGC,
chr13	35758221	35758221	T	A	intronic	NBEA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-JP|1|585|0.00171	-	-	integument phenotype	Autism, idiopathic|Schizophrenia|Tetralogy of Fallot	ICGC,
chr4	140325925	140325925	-	T	intergenic	NAA15,RAB33B	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|2|71|0.02817	-	-	-,-	Congenital heart disease ,Smith-McCort dysplasia|Dyggve-Melchior-Clausen syndrome 	ICGC,
chr8	105276618	105276618	C	T	intergenic	RIMS2,DCSTAMP	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	mortality/aging,hematopoietic system phenotype	-,-	ICGC,
chr12	64074236	64074236	G	A	intergenic	DPY19L2,TMEM5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	reproductive system phenotype,-	Globozoospermia,Walker-Warburg syndrome|Muscle-eye-brain disease|Cobblestone lissencephaly	ICGC,
chr1	148256735	148256735	C	T	exonic	NBPF14	nonsynonymous	SNV	-	0.099	-	-	rs61812488	-	-	-	-	COSM6359835	-	THCA-CN|1|50|0.02000	-	-	-	-	COSMIC,ICGC,
chr4	151471439	151471439	T	C	intronic	LRBA	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7743119	-	PACA-AU|1|391|0.00256	-	-	-	Autoimmunity|Hypogammaglobulinaemia, early-onset with autoimmunity & inflammatory bowel disease|Immunodeficiency, common variable 	COSMIC,ICGC,
chr11	111783202	111783202	C	T	intronic	CRYAB	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6985380	-	PACA-AU|1|391|0.00256	-	-	mortality/aging	Posterior polar cataract|Myopathy, myofibrillar, infantile-onset|Myopathy, myofibrillar|Myopathy, desmin related|Myofibrillar myopathy, cardiomyopathy & posterior polar cataract|Muscular dystrophy, hypertonic fatal infantile|Multiple sclerosis, susceptibility, association with |Late-onset distal myopathy|Cataract, pediatric|Cataract, lamellar|Cataract, juvenile  |Cataract, congenital nuclear|Cataract, congenital  |Cardiomyopathy, hypertrophic|Cardiomyopathy, dilated	COSMIC,ICGC,
chr10	42356128	42356128	C	T	intergenic	NONE,LOC441666	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20553959	-	COCA-CN|2|321|0.00623	-	-	-,-	-,-	COSMIC,COSMIC,ICGC,
chr21	18511164	18511164	C	G	intergenic	LINC00478,C21orf37	unknown	SNV	-	-	-	0.0018	rs117795845	-	-	-	-	COSN15602571	-	RECA-EU|2|422|0.00474	-	-	-,-	-,-	COSMIC,COSMIC,ICGC,
chr1	216436322	216436322	T	A	intronic	USH2A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	vision/eye phenotype	Retinitis pigmentosa?|Retinitis pigmentosa.|Sensorineural hearing loss, nonsyndromic  |Usher syndrome  |Usher syndrome 1  |Usher syndrome 2|Usher syndrome 2a|Usher syndrome 3 |Retinitis pigmentosa, recessive, no hearing loss|Retinitis pigmentosa, autosomal recessive.|Retinitis pigmentosa, autosomal recessive |Retinitis pigmentosa|Retinal degeneration|Hearing loss, early-childhood|Deafness, non-syndromic |Deafness  |Autism spectrum disorder|Autism	ICGC,
chr11	49812657	49812657	G	A	ncRNA_intronic	LOC440040	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr3	103826237	103826237	CC	TT	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr8	31446239	31446239	C	T	intergenic	WRN,NRG1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7670480	-	PACA-CA|1|268|0.00373	-	-	integument phenotype,integument phenotype	Werner syndrome|Thromboembolic disease, association with|Schizophrenia|Sarcomas, association with|Reduced enzyme activity|Partial lipodystrophy with insulin resistance & adult progeria Werner syndrome|Non-hodgkin lymphoma, association with|Lung cancer|Coronary stenosis, reduced risk, association with|Breast cancer, association with|Breast cancer risk in radiographers, association with,Sudden cardiac death, association with|Schizophrenia, association with  |Schizophrenia in African Americans, association with|Prepulse inhibition, association with|Perceptual aberration of schizotypal personality, association with|Increased lateral ventricle volume in schizophrenia|Hirschsprung disease|Developmental delay, hypotonia & microcephaly|Alzheimers disease, association with	COSMIC,ICGC,
chr4	61261648	61261648	G	A	intergenic	NONE,LPHN3	unknown	SNV	-	-	-	0.2491	rs116151166	-	-	-	-	COSN18852474	-	SKCA-BR|1|100|0.01000	-	-	-,behavior/neurological phenotype	-,-	COSMIC,ICGC,
chr7	13608359	13608359	A	G	intergenic	ARL4A,ETV1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	reproductive system phenotype,mortality/aging	-,-	ICGC,
chrX	68813105	68813105	T	C	intergenic	FAM155B,EDA	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15470020	-	OV-AU|1|93|0.01075	-	-	-,integument phenotype	-,Tooth agenesis.|Tooth agenesis|Oligodontia   |Hypodontia|Ectodermal dysplasia, X-linked hypohidrotic with bilateral glaucoma|Ectodermal dysplasia, hypohidrotic.|Ectodermal dysplasia, hypohidrotic & inability to sweat|Ectodermal dysplasia, hypohidrotic|Ectodermal dysplasia	COSMIC,COSMIC,ICGC,
chr3	168241441	168241441	C	T	ncRNA_intronic	EGFEM1P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr9	115583489	115583489	C	T	intronic	SNX30	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24655684	-	GACA-CN|1|123|0.00813	-	-	-	-	COSMIC,ICGC,
chr10	25416297	25416297	C	T	ncRNA_intronic	LOC101929025	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-	-	ICGC,
chr5	12156899	12156899	C	T	intergenic	CTNND2,LINC01194	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,-	Schizophrenia  |Lennox-Gastaut syndrome |Autism spectrum disorder|Anorectal malformation|Altered localisation,-	ICGC,
chr3	30472259	30472259	A	C	intergenic	RBMS3,TGFBR2	unknown	SNV	-	-	-	0.0647	rs72496956	-	0.120807	-	0.007	-	-	LAML-KR|1|205|0.00488	-	-	-,mortality/aging	-,Loeys-Dietz syndrome|Loeys-Dietz syndrome, type II|Marfan syndrome II|Marfan syndrome, incomplete|Marfan-like syndrome|Microcephaly & developmental delay|Non-SGS marfanoid craniosynostosis|Potential protein deficiency|Shprintzen-Goldberg syndrome|Loeys-Dietz aortic aneurysm syndrome|Leprosy, association with|Iron overload disease, ferroportin-associated|Allergic disease, predisposition to|Aortic aneurysm |Aortic aneurysm, thoracic|Breast cancer, protection against, association with.|Cervical artery dissection, spontaneous|Colorectal cancer |Colorectal cancer, non-polyposis|Gastric cancer, reduced risk, association with|Giant cell carcinoma	ICGC,
chr14	77686400	77686400	G	A	exonic	TMEM63C	synonymous	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	-	ICGC,
chr16	32838124	32838124	G	T	intergenic	TP53TG3,SLC6A10P	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19717530	-	COCA-CN|1|321|0.00312	-	-	-,-	-,-	COSMIC,ICGC,
chr6	44990899	44990899	A	-	intronic	SUPT3H	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	46,XY gonadal dysgenesis	ICGC,
chr7	19176911	19176911	G	A	intergenic	TWIST1,FERD3L	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,cellular phenotype	Synostotic frontal plagiocephaly|Saethre-Chotzen-like syndrome, intellectual disability & autism|Saethre-Chotzen-like syndrome|Saethre-Chotzen syndrome & hyper IgE syndrome|Saethre-Chotzen syndrome & hand-foot-uterus syndrome|Saethre-Chotzen syndrome|Robinow-Sorauf syndrome|Plagiocephaly |Microcephaly, facial dysmorphism and short stature|Craniosynostosis.|Craniosynostosis|Brachicephaly |Baller-Gerold syndrome,-	ICGC,
chr5	72417708	72417708	C	T	intronic	TMEM171	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr16	63329498	63329498	G	A	intergenic	CDH8,CDH11	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,integument phenotype	Learning disability  |Autism & learning disability ,-	ICGC,
chr10	125056006	125056006	T	C	intergenic	BUB3,GPR26	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,behavior/neurological phenotype	Variegated aneuploidy,-	ICGC,
chr2	179813320	179813320	G	A	intronic	CCDC141	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr2	33887057	33887057	T	G	intergenic	FAM98A,MYADML	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr5	140422146	140422146	C	T	intergenic	PCDHA1,LOC101926905	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	normal phenotype,-	-,-	ICGC,
chrX	100448758	100448758	-	T	intergenic	CENPI,DRP2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,nervous system phenotype	-,Autism spectrum disorder|Potential protein deficiency	ICGC,
chr16	1927275	1927275	C	T	intergenic	MEIOB,LINC00254	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chrX	81183288	81183288	C	T	intergenic	SH3BGRL,POU3F4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,integument phenotype	-,X-linked mixed deafness|X-linked deafness|Sensorineural hearing loss  |Mixed hearing loss |Hearing loss, X-linked nonsyndromic|Hearing loss & mental retardation	ICGC,
chr11	98192202	98192202	A	G	intergenic	MIR7976,CNTN5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1552800	-	LIRI-JP|1|258|0.00388	-	-	-,behavior/neurological phenotype	-,-	COSMIC,ICGC,
chr5	91088384	91088384	C	T	intergenic	ARRDC3-AS1,NR2F1-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7586171	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	COSMIC,ICGC,
chr17	39019842	39019842	C	T	exonic	KRT12	synonymous	SNV	-	-	4.061e-06	3.228e-05	rs756132608	8.238e-06	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	vision/eye phenotype	Corneal dystrophy, Meesmann	ICGC,
chr17	3574907	3574907	A	G	ncRNA_exonic	P2RX5-TAX1BP3	unknown	SNV	-	-	-	0.0005	rs764424028	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr6	32796793	32796793	G	A	exonic	TAP2	nonsynonymous	SNV	0.187	1.0	0.0768	0.0546	rs4148876	0.0763	0.0585064	0.0395	0.014	COSM6406979	-	THCA-CN|1|50|0.02000,ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488	-	-	hematopoietic system phenotype	Sjogren's syndrome, association with|Rheumatoid arthritis, association with|HLA class I deficiency|Diabetes, type 1, association with|Cervical carcinoma, association with|Bare lymphocyte syndrome, type I	COSMIC,ICGC,
chr13	66448198	66448198	T	-	intergenic	NONE,PCDH9	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	ICGC,
chrX	65794127	65794127	T	A	intergenic	HEPH,EDA2R	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype,normal phenotype	-,Hypohidrotic ectodermal dysplasia|Mental retardation, X-linked 	ICGC,
chr8	71646492	71646492	A	G	exonic	XKR9	nonsynonymous	SNV	0.617	0.001	-	-	-	-	-	-	-	COSM4148835	-	PAEN-AU|1|52|0.01923	-	-	-	Schizophrenia	COSMIC,ICGC,
chr13	59981545	59981545	T	C	intergenic	LOC101926897,DIAPH3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	-,-	-,Autism  |Auditory neuropathy spectrum disorder|Auditory neuropathy	ICGC,
chr16	48954592	48954592	G	A	intergenic	N4BP1,CBLN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	no phenotypic analysis,behavior/neurological phenotype	-,-	ICGC,
chr4	189491787	189491787	A	T	ncRNA_intronic	LINC01060	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chrX	25713231	25713231	C	T	intergenic	ARX,MAGEB18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Infantile spasms & intellectual disability|Intellectual disability & dystonia|Intellectual disability, X-linked|Lissencephaly, X-linked, with abnormal genitalia|Mental retardation|Mental retardation and epilepsy|Neurodegeneration   |Neurodegeneration with Ohtahara syndrome and mov disord|Ohtahara syndrome|Ohtahara syndrome with developmental delay|Partington syndrome|Infantile spasm syndrome, X-linked|Generalized dystonia without infantile spasms|ACC, epilepsy, abnormal genitalia|ACC, infantile spasms & abnormal genitalia|ACC, lissencephaly, seizures & genital hypoplasia|ACC, mental retardation, epilepsy & dyskinetic quadriparesis|Asymmetric polymicrogyria & periventricular nodular heterotopia|Autism spectrum disorder|Developmental delay and early hand preference.|Epilepsy, early-onset|Epilepsy, early-onset.|Epileptic encephalopathy, early infantile|Epileptic encephalopathy, early onset,-	ICGC,
chr11	112753637	112753637	G	A	intergenic	LOC387810,LOC101928847	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr20	9067006	9067006	C	T	intronic	PLCB4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging	Auriculocondylar syndrome	ICGC,
chr15	20439944	20439944	C	T	intergenic	NONE,CHEK2P2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,-	-,-	ICGC,
chr6	168669227	168669227	G	A	intergenic	LOC101929420,DACT2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,integument phenotype	-,-	ICGC,
chr19	52035403	52035403	T	C	upstream	SIGLEC6	unknown	SNV	-	-	-	-	rs75632955	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-	-	ICGC,
chr3	12586930	12586930	T	G	exonic	MKRN2OS	nonsynonymous	SNV	0.243	-	-	-	-	-	-	-	-	COSN23016210	BRCA|1|982|0.00102	BRCA-US|1|955|0.00105	-	-	-	-	COSMIC,TCGA,ICGC,
chr14	72391271	72391271	C	-	intergenic	SIPA1L1,RGS6	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,cardiovascular system phenotype	-,Increased protein expression	ICGC,
chr11	107007464	107007464	G	A	intergenic	GUCY1A2,CWF19L2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype,-	-,-	ICGC,
chr6	170643954	170643954	C	G	intronic	FAM120B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22271533	-	BRCA-EU|1|569|0.00176	-	-	-	Autism spectrum disorder	COSMIC,ICGC,
chr9	76374733	76374733	C	T	ncRNA_intronic	MIR6130	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr4	74393986	74393986	A	T	ncRNA_intronic	LOC728040	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr6	108505418	108505418	T	A	intronic	NR2E1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	vision/eye phenotype	Microcephaly 	ICGC,
chr3	1382379	1382379	T	C	intronic	CNTN6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	EOPC-DE|1|202|0.00495	-	-	behavior/neurological phenotype	Intellectual disability  	ICGC,
chr15	57035372	57035372	-	A	intergenic	ZNF280D,LOC145783	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-,-	-,-	ICGC,
chr13	62835756	62835756	G	A	intergenic	LINC00358,LINC00448	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr5	56542103	56542103	C	G	intronic	GPBP1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27095665	-	ESAD-UK|1|301|0.00332	-	-	-	-	COSMIC,ICGC,
chr11	50550367	50550367	G	T	intergenic	LOC646813,OR4A5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr4	104835611	104835611	G	A	intergenic	TACR3,CXXC4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,-	Kallmann syndrome|Hypogonadotropic hypogonadism,-	ICGC,
chr8	92487507	92487507	C	T	intergenic	SLC26A7,RUNX1T1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	digestive/alimentary phenotype,integument phenotype	-,Intellectual disability  	ICGC,
chr14	85467013	85467013	A	C	intergenic	NONE,LINC00911	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BOCA-UK|1|130|0.00769	-	-	-,-	-,-	ICGC,
chr1	171391619	171391619	T	C	intergenic	FMO4,PRRC2C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	FMO4 variant,Schizophrenia	ICGC,
chr7	107660941	107660941	G	A	intergenic	LAMB1,LAMB4	unknown	SNV	-	-	-	0.0131	-	-	-	-	-	COSN28150599	-	PRAD-CA|1|308|0.00325	-	-	mortality/aging,-	Autism, association with |Cobblestone brain malformation|Leukodystrophy,Colorectal cancer 	COSMIC,ICGC,
chr2	83285967	83285967	G	T	intergenic	LOC1720,FUNDC2P2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr12	74280683	74280683	G	A	intergenic	LOC101928137,LOC100507377	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|3|183|0.01639	-	-	-,-	-,-	ICGC,
chr6	118498544	118498544	A	G	intronic	SLC35F1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20925729	-	BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr6	4927693	4927693	-	GT	intronic	CDYL	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|3|67|0.04478	-	-	-	-	ICGC,
chr7	146654734	146654734	G	A	intronic	CNTNAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Gilles de la Tourette syndrome|Intellectual disability  |Learning disability & speech problems|Mental retardation |Mental retardation, Pitt-Hopkins-like|Multiple congenital anomalies  |Seizures, neonatal |Speech delay  |Stuttering |Epileptic encephalopathy  |Epilepsy and schizophrenia|Autism|Autism spectrum disorder |Autism spectrum disorder, modifier of|Childhood apraxia of speech|Cortical dysplasia-focal epilepsy syndrome|Developmental and/or speech and/or behavioural problems|Developmental delay  |Developmental delay & dysmorphic features|Dyslexia 	ICGC,
chr18	29013884	29013884	G	A	intergenic	LOC101927718,DSG3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,-	ICGC,
chr10	107813477	107813477	C	T	intergenic	LOC101927549,SORCS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,other phenotype	-,Autism 	ICGC,
chr15	27105280	27105280	G	A	intergenic	GABRB3,GABRA5	unknown	SNV	-	-	-	0.0070	rs200705454	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	mortality/aging,skeleton phenotype	Neurological deficits of Angelman syndrome|Mesial temporal lobe epilepsy with depression, association with|Increased promoter activity|Epilepsy, childhood absence, association with|Chronic insomnia |Autism, association with |Autism spectrum disorder|Anorectal malformation,-	ICGC,
chr8	97492250	97492250	T	C	intergenic	PTDSS1,SDC2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Lenz-Majewski syndrome,Systemic sclerosis, protection against, association with	ICGC,
chr1	107418089	107418089	T	G	intergenic	NONE,PRMT6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr2	213867069	213867069	C	T	UTR3	IKZF2	unknown	SNV	-	-	-	6.494e-05	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging	-	ICGC,
chr18	27674332	27674332	C	A	intergenic	CDH2,MIR302F	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1736505	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging,-	Reduced expression|Potential protein deficiency|Alzheimer disease  ,-	COSMIC,ICGC,
chr6	162704944	162704944	C	T	intronic	PARK2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype	Parkinson disease, decreased risk|Parkinson disease, early-onset|Parkinson disease, early-onset.|Parkinson disease, familial|Parkinson disease, familial, association with |Parkinson disease, idiopathic|Parkinson disease, in heterozygosity, association|Parkinson disease, late-onset|Parkinson disease, sporadic, reduced risk|Parkinson disease.|Parkinsonism, juvenile, autosomal recessive|Parkinsonism, late-onset, association with|Rolandic epilepsy |Parkinson disease, autosomal recessive|Parkinson disease, association with|Parkinson disease with resting leg tremor|Attention deficit hyperactivity disorder |Autism spectrum disorder|Cervical artery dissection|Dementia with Lewy bodies|Developmental delay  |Dystonia, dopa-responsive|Leprosy, association with|Lewy bodies|Lung adenocarcinoma   |Multiple system atrophy, cerebellar subtype|Parkinson disease|Parkinson disease with dementia.|Parkinson disease with Lewy bodies	ICGC,
chr5	160116554	160116554	T	A	intronic	ATP10B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr3	122081432	122081432	G	A	intronic	CCDC58	unknown	SNV	-	-	-	3.285e-05	rs778021472	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr4	156145540	156145540	C	T	intergenic	NPY2R,MAP9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,-	Huntington disease, age at onset, association with|Severe obesity, in men, association with|Obesity, association with|Obesity |Increased expression levels|Hypertension reduced risk,-	ICGC,
chr6	63448729	63448729	T	C	intergenic	KHDRBS2,LGSN	unknown	SNV	-	-	-	0.0013	rs577266191	-	0.00159744	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr12	84631815	84631815	G	T	intergenic	TMTC2,SLC6A15	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24688326	-	GACA-CN|1|123|0.00813	-	-	-,reproductive system phenotype	-,Increased maximal 3H proline uptake	COSMIC,ICGC,
chr2	175364202	175364202	G	A	intergenic	GPR155,WIPF1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	-,hematopoietic system phenotype	-,Wiskott-Aldrich syndrome	ICGC,
chr2	204340284	204340284	G	C	intronic	RAPH1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr1	91253633	91253633	G	A	intergenic	BARHL2,ZNF644	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	-,High myopia |Myopia	ICGC,
chr11	70190375	70190375	G	A	intronic	PPFIA1	unknown	SNV	-	-	-	0.1707	rs3781644	-	0.167931	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr8	109663812	109663812	T	C	intergenic	EMC2,TMEM74	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26674580	-	LICA-CN|1|402|0.00249	-	-	-,-	-,-	COSMIC,ICGC,
chr18	75825388	75825388	A	G	intergenic	LINC01029,SALL3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	RECA-EU|1|422|0.00237	-	-	-,mortality/aging	-,-	ICGC,
chr11	63279164	63279164	GG	AC	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr5	68266413	68266413	C	T	intergenic	PIK3R1,SLC30A5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,mortality/aging	SHORT syndrome|Potential protein deficiency|Insulin resistance|Increased BMI, association with|Glucose disappearance and effectiveness, association with|Diabetes, type 2, association with|Colon cancer, increased risk, association with|B cell defects,Autism	ICGC,
chr11	38233040	38233040	A	T	intergenic	C11orf74,LOC103312105	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr12	90904972	90904972	G	T	intergenic	LINC00936,LINC00615	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr16	67006556	67006556	C	A	intronic	CES3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2375329	-	-	-	-	behavior/neurological phenotype	-	COSMIC,
chr5	95734253	95734253	G	A	intronic	PCSK1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	PCSK1 deficiency|Proprotein convertase 1/3 deficiency|Reduced catalytic activity|Reduced specific activity|Pancreatic cancer |Obesity, association with|Obesity-related traits, association with|Obesity and impaired prohormone processing|Obesity  |Hyperphagia and obesity, early onset|Altered promoter activity	ICGC,
chr5	126061809	126061809	G	A	intergenic	TEX43,LMNB1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Leukodystrophy|Leukoencephalopathy  |Neural tube defects|Potential protein deficiency	ICGC,
chr5	163463329	163463329	C	G	intergenic	MAT2B,LOC101927835	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-UK|1|141|0.00709	-	-	-,-	-,-	ICGC,
chr4	138071003	138071003	T	A	intergenic	LINC00613,PCDH18	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16059692	-	PACA-CA|1|268|0.00373	-	-	-,-	-,Intellectual disability  	COSMIC,ICGC,
chr2	32329283	32329283	C	A	intronic	SPAST	unknown	SNV	-	-	-	3.229e-05	rs564562256	-	0.000199681	-	-	-	-	LAML-KR|1|205|0.00488	-	-	reproductive system phenotype	Upper motor neuron syndrome, adult onset|Spastic paraplegia, silver syndrome type|Spastic paraplegia, autosomal dominant .|Spastic paraplegia, autosomal dominant|Spastic paraplegia 4|Spastic paraplegia|Spastic paraparesis|Potential protein deficiency|Phenotype modifier, association with|Autism|Amyotrophic lateral sclerosis	ICGC,
chr8	9861245	9861245	A	G	intergenic	MIR124-1,MSRA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	Increased expression  ,-	ICGC,
chr21	18883660	18883664	CATAT	-	intergenic	C21orf37,CXADR	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,mortality/aging	-,-	ICGC,
chr1	199840558	199840558	C	T	intergenic	LINC01222,NR5A2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,-	ICGC,
chrY	16056030	16056030	T	G	intergenic	TMSB4Y,VCY	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr17	20983999	20983999	G	A	ncRNA_intronic	HP08942	unknown	SNV	-	-	-	0.4045	rs7216907	-	0.402955	-	0.529	-	-	ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488	-	-	-	-	ICGC,
chr11	113819983	113819983	G	A	intergenic	HTR3B,HTR3A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,integument phenotype	Schizophrenia, bipolar affective, protection, association|Anorexia nervosa|Altered receptor function,Schizophrenia |Irritable bowel syndrome|Impaired function|Dyspepsia, association with|Bipolar affective disorder, association with|Autism spectrum disorder|Anorexia nervosa|Amygdala responsiveness in irritable bowel syndrome, association with	ICGC,
chr1	98974121	98974121	G	A	intergenic	LOC729987,SNX7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	ICGC,
chr2	4634883	4634883	A	G	intergenic	LINC01304,LINC01249	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7130662	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	COSMIC,ICGC,
chr3	68968382	68968382	C	T	intronic	FAM19A4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	-	ICGC,
chr18	63990610	63990610	G	T	intergenic	CDH7,CDH19	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,Tetralogy of Fallot	ICGC,
chr4	86837387	86837387	C	T	intronic	ARHGAP24	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Autism spectrum disorder|Focal segmental glomerulosclerosis 	ICGC,
chr1	11045508	11045508	G	T	intergenic	C1orf127,TARDBP	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	-,mortality/aging	Autism,Frontotemporal lobar degeneration|Frontotemporal lobar degeneration with parkinsonism|Frontotemporal lobar dementia in ALS patients|Motor neuron disease|Parkinson disease|Parkinson disease.|Progressive anarthria, with ALS|Sensory & motor neuropathy |Frontotemporal dementia, supranuclear gaze palsy & chorea|Frontotemporal dementia without motor neuron disease|Frontotemporal dementia|Amyotrophic lateral sclerosis|Amyotrophic lateral sclerosis, association with |Amyotrophic lateral sclerosis, flail arm variant|Amyotrophic lateral sclerosis, Parkinson's disease & frontotemporal lobar degeneration|Amyotrophic lateral sclerosis.|Corticobasal syndrome|Disrupted nuclear localisation|Fronto-temporal dementia, early-onset	ICGC,
chr16	20155247	20155247	A	G	intergenic	GPR139,GP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,endocrine/exocrine gland phenotype	Autism|Schizophrenia    ,Pancreatitis, reduced risk, association with  	ICGC,
chr17	10396062	10396062	A	T	intronic	MYH1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9222025	-	PAEN-AU|1|52|0.01923	-	-	skeleton phenotype	-	COSMIC,ICGC,
chr10	1688552	1688552	T	C	intronic	ADARB2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17779561	-	ESAD-UK|1|301|0.00332	-	-	-	-	COSMIC,ICGC,
chr1	228464152	228464152	G	T	exonic	OBSCN	nonsynonymous	SNV	0.183	0.967	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	muscle phenotype	Schizophrenia|Potential protein deficiency|Glioblastoma|Cardiomyopathy, hypertrophic	ICGC,
chr5	81550746	81550746	-	TGTGTGTG	UTR3	ATG10	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	Breast cancer, reduced risk, association with	ICGC,
chr8	83340832	83340832	G	A	intergenic	SNX16,LINC01419	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24490111	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	COSMIC,ICGC,
chr13	75271257	75271257	T	G	intergenic	LINC00347,CTAGE11P	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17800895	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr2	179972833	179972833	C	G	UTR3	SESTD1	unknown	SNV	-	-	-	0.0582	rs17454024	-	0.0583067	-	0.029	-	-	ESAD-UK|1|301|0.00332,LAML-KR|2|205|0.00976	-	-	-	-	ICGC,
chr12	65201541	65201541	T	A	intergenic	GNS,TBC1D30	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Mucopolysaccharidosis IIId,Autism spectrum disorder|Increased fasting proinsulin concentration, association with	ICGC,
chr1	7048457	7048457	C	T	intronic	CAMTA1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Ataxia, non-progressive congenital|Developmental delay & learning disability|Impaired episodic memory performance, association with	ICGC,
chr9	38526120	38526120	T	A	intergenic	IGFBPL1,FAM95C	unknown	SNV	-	-	-	0.0200	rs12379441	-	0.00798722	-	0.022	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr22	38724606	38724607	AC	-	intronic	CSNK1E	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	behavior/neurological phenotype	Sleep disorders, reduced risk, association with	ICGC,
chr13	74678046	74678046	G	-	intronic	KLF12	unknown	deletion	-	-	-	-	-	-	-	-	-	COSN23808733	-	ORCA-IN|1|178|0.00562	-	-	-	-	COSMIC,ICGC,
chr8	17365834	17365834	G	A	intronic	SLC7A2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	immune system phenotype	Infantile encephalopathy with anorexia	ICGC,
chr2	80986516	80986516	C	A	intergenic	CTNNA2,LOC100507201	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25306247	-	MALY-DE|1|241|0.00415	-	-	mortality/aging,-	Schizophrenia,-	COSMIC,ICGC,
chr11	46216722	46216722	T	G	intergenic	LOC101928894,CREB3L1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-UK|1|140|0.00714	-	-	-,hematopoietic system phenotype	-,Osteogenesis imperfecta, autosomal recessive	ICGC,
chr1	1551005	1551005	C	T	exonic	MIB2	nonsynonymous	SNV	0.007	-	5.45e-06	-	rs774154462	3.446e-05	-	-	-	-	-	THCA-SA|1|142|0.00704	-	-	mortality/aging	-	ICGC,
chr1	105092004	105092004	C	G	intergenic	LOC100129138,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	ICGC,
chr11	60288227	60288227	T	C	intronic	MS4A13	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17114982	-	-	-	-	-	-	COSMIC,
chr6	41798578	41798578	T	-	intronic	USP49	unknown	deletion	-	-	-	0.0004	-	-	-	-	-	-	-	PRAD-CA|2|308|0.00649,PBCA-US|1|186|0.00538,MELA-AU|1|183|0.00546	-	-	-	Potential protein deficiency	ICGC,
chr2	165113348	165113348	T	A	intergenic	FIGN,GRB14	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21959863	-	BRCA-UK|1|141|0.00709,BRCA-EU|1|569|0.00176	-	-	integument phenotype,hematopoietic system phenotype	-,-	COSMIC,ICGC,
chr7	141857425	141857425	C	T	intronic	LOC93432	unknown	SNV	-	-	-	3.232e-05	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-	-	ICGC,
chrX	6910371	6910371	T	C	intergenic	VCX3A,HDHD1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21413144	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	-,-	Intellectual disability, absent speech & behavioural problems|Mental retardation ,-	COSMIC,COSMIC,ICGC,
chr6	88779900	88779900	A	T	intergenic	SPACA1,CNR1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23621063	-	ESAD-UK|1|301|0.00332	-	-	reproductive system phenotype,integument phenotype	-,Ulcerative colitis, reduced risk, association with|Sweet taste threshold, association with|Schizophrenia, hebephrenic, association with|Procedural learning, higher performance, association with|Post-traumatic stress disorder, association with.|Neuroticism, association with|IV drug dependence, susceptibility to, association|Increased waist circumference in obese men, association|Impulsive behaviour, association with|Huntington disease, age at onset, association with|Abdominal adiposity in obese men, association with |Altered function|Altered HDL cholesterol levels|Anorexia and bulimia nervosa, association with|Anorexia nervosa, binging/purging, association|Autism spectrum disorder|Cocaine dependence, association with|Colorectal cancer outcome	COSMIC,ICGC,
chrX	14499621	14499621	C	T	intergenic	UBE2E4P,GLRA2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,-	ICGC,
chr5	142195378	142195378	G	A	intronic	ARHGAP26	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	-	ICGC,
chr18	68765428	68765428	C	A	intergenic	GTSCR1,LOC100505776	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1755310	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr4	60667965	60667965	A	T	intergenic	NONE,LPHN3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,behavior/neurological phenotype	-,-	ICGC,
chr8	32740286	32740286	T	G	intergenic	NRG1,FUT10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	integument phenotype,-	Sudden cardiac death, association with|Schizophrenia, association with  |Schizophrenia in African Americans, association with|Prepulse inhibition, association with|Perceptual aberration of schizotypal personality, association with|Increased lateral ventricle volume in schizophrenia|Hirschsprung disease|Developmental delay, hypotonia & microcephaly|Alzheimers disease, association with,-	ICGC,
chr11	25710084	25710084	A	C	intergenic	LUZP2,ANO3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	normal phenotype,-	Anorectal malformation,Craniocervical dystonia|Dystonia, primary torsion	ICGC,
chr19	2716650	2716650	-	T	UTR3	DIRAS1	unknown	insertion	-	-	-	0.2652	rs34088007	-	0.364217	-	0.022	COSN20115307	-	-	-	-	-	-	COSMIC,COSMIC,
chrX	82470757	82470757	C	T	intergenic	SH3BGRL,POU3F4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,integument phenotype	-,X-linked mixed deafness|X-linked deafness|Sensorineural hearing loss  |Mixed hearing loss |Hearing loss, X-linked nonsyndromic|Hearing loss & mental retardation	ICGC,
chr17	47724751	47724751	C	T	intronic	SPOP	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	mortality/aging	-	ICGC,
chrY	13195939	13195939	T	A	intergenic	NONE,GYG2P1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr16	21977252	21977252	G	T	intronic	UQCRC2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-	Mitochondrial complex III deficiency	ICGC,
chr12	17415508	17415508	-	CAT	intergenic	SKP1P2,MIR3974	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chrX	122208261	122208261	G	A	intergenic	NONE,GRIA3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Mental retardation, X-linked|Intellectual disability, X-linked with facial dysmorphism|Intellectual disability, X-linked|Autism spectrum disorder	ICGC,
chr6	100868637	100868637	A	T	intronic	SIM1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Reduced transcriptional activity|Obesity, profound|Obesity, early onset  |Obesity with Prader-Willi syndrome|Obesity	ICGC,
chr12	895467	895467	T	C	intronic	WNK1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9738692	-	RECA-EU|1|422|0.00237	-	-	mortality/aging	Salt-losing tubulopathy|Pseudohypoaldosteronism 2|Potential protein deficiency|Neuropathy, hereditary sensory, type II|Colorectal cancer, increased risk, association with|Blood pressure, association with |Blood pressure variation, association with|Ambulatory blood pressure variation, association with	COSMIC,ICGC,
chr2	60688871	60688871	C	T	exonic	BCL11A	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM3582419	SKCM|1|368|0.00272	SKCM-US|1|335|0.00299	-	-	mortality/aging	Increased foetal haemoglobin levels, association with|Autism	COSMIC,COSMIC,TCGA,ICGC,
chr19	30826647	30826647	T	A	intergenic	URI1,ZNF536	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	-,Schizophrenia	ICGC,
chr4	69668069	69668069	C	T	intergenic	UGT2B15,UGT2B10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Reduced oxazepam clearance, association with|Prostate cancer, association with|Lower activity, association with|Increased gene expression|Fat mass, association with|Altered gene expression in liver,Autism|Lower nicotine consumption in smokers|Potential protein deficiency|Reduced enzyme activity	ICGC,
chr9	129430747	129430747	-	ATTATTAGT	intronic	LMX1B	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	integument phenotype	Nail patella-like renal disease|Nail patella syndrome|Focal segmental glomerulosclerosis.|Focal segmental glomerulosclerosis 	ICGC,
chr2	77363715	77363715	G	A	intronic	LRRTM4	unknown	SNV	-	-	-	0.0007	rs369027377	-	0.000199681	-	-	COSN6559154	-	PBCA-DE|1|499|0.00200	-	-	-	-	COSMIC,ICGC,
chr4	36817085	36817085	G	A	intergenic	DTHD1,MIR4801	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Leber congenital amaurosis with myopathy,-	ICGC,
chr12	67374914	67374914	C	G	intergenic	GRIP1,LOC102724421	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,-	Autism|Fraser syndrome|Schizophrenia and epilepsy,-	ICGC,
chr8	24487957	24487957	G	A	intergenic	ADAM7,NEFM	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,reproductive system phenotype	Potential protein deficiency|Schizophrenia, association with  ,Parkinson disease 	ICGC,
chr10	35604707	35604707	T	C	intronic	CCNY	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-	-	ICGC,
chr13	63825829	63825829	G	C	intergenic	LINC00448,LINC00395	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	ICGC,
chr10	131127504	131127504	T	C	intergenic	LINC01163,MGMT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-,mortality/aging	-,MGMT methylation in malignant pleural mesothelioma, association with|Non-Hodgkin lymphoma, increased risk|Pancreatic cancer, increased risk, association with|Promoter methylation and longer survival in glioblastoma patients, association with|Promoter methylation in colorectal cancer |MGMT methylation in lung cancer, increased risk, association with|MGMT methylation in colorectal cancer, association with|Lung cancer, risk, association with|Glioblastoma, reduced risk, association with |Endometrial cancer risk, association with|Cervical carcinoma, increased risk, association with|Cancer, increased risk|Altered enzyme activity	ICGC,
chr9	8455527	8455527	G	A	intronic	PTPRD	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	integument phenotype	Restless legs syndrome, association with|Ewing sarcoma	ICGC,
chr4	170529254	170529255	AC	-	intronic	NEK1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	integument phenotype	Short rib-polydactyly syndrome, Majewski type|Short rib-polydactyly syndrome, Verma-Naumoff	ICGC,
chr15	54654737	54654737	C	T	intronic	UNC13C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	Developmental delay  	ICGC,
chr15	98649200	98649200	G	T	intergenic	LOC101927332,FAM169B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20268134	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	COSMIC,ICGC,
chr11	87618268	87618268	C	A	intergenic	TMEM135,RAB38	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,integument phenotype	Intellectual disability  ,-	ICGC,
chr9	132940988	132941009	TGGCGGGGAAGAGGGGTGGTAA	-	intronic	NCS1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	RECA-EU|1|422|0.00237	-	-	no phenotypic analysis	Autism	ICGC,
chr8	96680380	96680380	G	A	ncRNA_intronic	C8orf37-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr13	45952422	45952422	C	G	ncRNA_intronic	TPT1-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	-	ICGC,
chr11	92752382	92752382	G	A	intergenic	MTNR1B,SLC36A4	unknown	SNV	-	-	-	3.248e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	normal phenotype,-	Increased fasting glucose  & descreased HOMA-B, association with|Increased body mass/decreased fasting plasma glucose, association with|Impaired Gi protein-dependent signalling|Diabetes, type 2, increased risk, association with |Diabetes, type 2, association with|Diabetes, type 2 |Diabetes mellitus, gestational, association with|Altered receptor function  |Adolescent idiopathic scoliosis, association with ,-	ICGC,
chr8	57261970	57261970	T	C	intergenic	SDR16C5,SDR16C6P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr13	26973445	26973445	C	T	intronic	CDK8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging	-	ICGC,
chr2	164133492	164133492	T	A	intergenic	KCNH7,FIGN	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25095246	-	MALY-DE|1|241|0.00415	-	-	-,integument phenotype	-,-	COSMIC,ICGC,
chr5	1756190	1756190	C	T	intergenic	MIR4277,MRPL36	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7923281	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	COSMIC,ICGC,
chr12	39916601	39916601	T	G	intergenic	KIF21A,ABCD2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,hematopoietic system phenotype	CFEOM1 & Marcus Gunn jaw-winking syndrome|Congenital fibrosis of the extraocular muscles 1|Congenital fibrosis of the extraocular muscles 1 & Möbius syndrome,-	ICGC,
chr2	103165038	103165038	C	T	intergenic	SLC9A4,SLC9A2	unknown	SNV	-	-	-	-	rs567301157	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	immune system phenotype,reproductive system phenotype	Higher sST2 levels, association with,-	ICGC,
chr1	106714435	106714435	G	A	intergenic	NONE,PRMT6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr13	50725042	50725042	T	-	ncRNA_intronic	DLEU1	unknown	deletion	-	-	-	0.0029	-	-	-	-	-	-	-	BTCA-SG|2|71|0.02817	-	-	-	-	ICGC,
chr14	69447088	69447088	C	G	ncRNA_intronic	ACTN1-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1170481	-	-	-	-	-	-	COSMIC,
chr10	90458451	90458451	G	T	intergenic	LIPF,LIPK	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23675285	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,Schizophrenia	COSMIC,ICGC,
chr5	178468024	178468024	C	T	intergenic	ZNF879,ZNF354C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr10	122983421	122983421	C	A	intergenic	MIR5694,FGFR2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,integument phenotype	-,Crouzon syndrome with ventricular septal defect.|Crouzon syndrome, atypical|Crouzon syndrome.|Hypospadias |Jackson-Weiss syndrome|Lacrimo-auriculo-dento-digital syndrome|Pfeiffer syndrome|Pfeiffer syndrome, Crouzon syndrome.|Pfeiffer syndrome.|Reduced transcription|Saethre-Chotzen syndrome|Saethre-Chotzen-like|Crouzon syndrome with atrial septal defect.|Crouzon syndrome|Antley-Bixler syndrome|Antley-Bixler, Beare-Stevenson & Pfeiffer syndromes|Apert syndrome|Beare-Stevenson cutis gyrata syndrome|Bent bone dysplasia |Breast cancer, association with.|Breast cancer, increased risk, association with|Breast cancer, reduced risk, association with|Cleft lip and palate|Cleft lip, non-syndromic |Craniosynostosis|Craniosynostosis, predisposition to 	ICGC,
chr4	182424372	182424372	A	T	intergenic	LINC00290,MGC45800	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	ICGC,
chr11	50261640	50261640	G	A	intergenic	LOC441601,LOC646813	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr3	13861619	13861619	C	A	intronic	WNT7A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22981875	-	PAEN-IT|1|37|0.02703	-	-	integument phenotype	AA/RRS & Fuhrmann syndrome|Al-Awadi-Raas-Rothschild syndrome|Congenital duplication of the palm syndrome|Fuhrmann syndrome|Ulnar and fibula absence, with severe limb deficiency	COSMIC,ICGC,
chr1	29126623	29126624	AA	-	intergenic	YTHDF2,OPRD1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,integument phenotype	Increased longevity,Anorexia nervosa, association with|Opioid dependence, association with	ICGC,
chr3	22619201	22619201	A	G	intergenic	ZNF385D-AS2,UBE2E2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|2|301|0.00664	-	-	-,-	-,-	ICGC,
chr22	16399448	16399448	A	G	intergenic	POTEH,OR11H1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN36675	-	-	-	-	-,-	Potential protein deficiency,-	COSMIC,
chr1	148952344	148952344	G	T	ncRNA_exonic	LOC645166	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr4	63387313	63387313	G	T	intergenic	LPHN3-AS1,TECRL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	-,-	ICGC,
chr1	230626177	230626177	G	A	intergenic	PGBD5,COG2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,mortality/aging	-,-	ICGC,
chr3	49931996	49931996	G	T	intronic	MST1R	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Potential protein deficiency	ICGC,
chr7	32229487	32229487	T	G	intronic	PDE1C	unknown	SNV	-	-	-	0.0007	rs565141691	-	0.000199681	-	-	COSN8300266	-	PACA-CA|1|268|0.00373	-	-	taste/olfaction phenotype	Developmental delay  	COSMIC,ICGC,
chr1	196149850	196149850	T	A	intergenic	NONE,KCNT2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN28100203	-	PRAD-CA|1|308|0.00325	-	-	-,-	-,-	COSMIC,ICGC,
chr3	39902400	39902400	C	T	intronic	MYRIP	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr5	4745942	4745942	A	C	intergenic	IRX1,LOC101929153	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2108500	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr21	45407438	45407438	T	G	UTR3	AGPAT3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	mortality/aging	-	ICGC,
chr16	78892842	78892842	C	T	intronic	WWOX	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Reduced plasma HDL cholesterol, association with|Non-small-cell lung cancer |Microcephaly syndrome, early lethal|Lung cancer, increased risk, association with|Differentiated thyroid carcinoma, association with|Cerebellar ataxia with epilepsy & mental retardation|Cancer |46,XY disorder of sex development 	ICGC,
chr10	120984097	120984097	T	-	intronic	GRK5	unknown	deletion	-	-	-	0.0001	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312,MALY-DE|1|241|0.00415	-	-	integument phenotype	Decreased mortality in heart failure, association with|Diabetes, type 2, increased risk|Left ventricular apical ballooning syndrome, association with	ICGC,
chr8	137555410	137555410	C	T	intergenic	KHDRBS3,FAM135B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-,-	-,-	ICGC,
chr1	156630499	156630499	C	T	intergenic	BCAN,NES	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27824769	-	UTCA-FR|1|20|0.05000	-	-	behavior/neurological phenotype,mortality/aging	-,-	COSMIC,COSMIC,ICGC,
chr10	72216088	72216088	A	T	intergenic	NODAL,PALD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	mortality/aging,no phenotypic analysis	Transposition of the great arteries|Tetralogy of Fallot|Situs ambiguus|Reduced activity|Patent ductus arteriosus.|Double outlet right ventricle|Congenital heart disease,-	ICGC,
chr2	215482234	215482236	ACT	-	intergenic	VWC2L,BARD1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|3|67|0.04478	-	-	-,mortality/aging	-,Tetralogy of Fallot|Schizophrenia, association with|Ovarian cancer|Neuroblastoma|Lung cancer, susceptibility to, association with|Fallopian tube carcinoma|Breast cancer, reduced risk, association with|Breast cancer, increased risk  |Breast cancer, association with|Breast cancer|Breast and/or ovarian cancer	ICGC,
chr8	48879968	48879968	C	T	exonic	MCM4	nonsynonymous	SNV	0.0	1.0	3.249e-05	3.228e-05	rs756135528	2.472e-05	-	-	-	COSM2718063	-	-	-	-	mortality/aging	Adrenal failure, short stature & natural killer cell deficiency	COSMIC,
chr9	125895994	125895994	T	-	intronic	STRBP	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	-	ICGC,
chr8	134920919	134920919	T	A	intergenic	ST3GAL1,ZFAT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype,mortality/aging	-,Autoimmune thyroid disease, association with	ICGC,
chr6	119871065	119871065	G	A	intergenic	LOC285762,TBC1D32	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Oro-facio-digital syndrome type IX	ICGC,
chr20	61742849	61742849	T	G	intergenic	HAR1A,MIR124-3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr20	12362847	12362847	-	AAAAAC	intergenic	BTBD3,LOC101929486	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr4	178237552	178237552	G	A	intronic	NEIL3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	immune system phenotype	-	ICGC,
chr6	125176409	125176413	TTCTA	-	intergenic	NKAIN2,STL	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	Developmental delay and recurrent infection|Various neurological abnormalities,-	ICGC,
chr11	57572170	57572170	-	ACTT	exonic	CTNND1	frameshift	insertion	-	-	-	-	-	-	-	-	-	COSM1585811	UCEC|1|248|0.00403	UCEC-US|1|250|0.00400	-	-	integument phenotype	Autism	COSMIC,COSMIC,ICGC,
chr18	14078785	14078785	A	T	intergenic	MC2R,ZNF519	unknown	SNV	-	-	-	4.824e-05	-	-	-	-	-	COSN24125587	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	mortality/aging,-	Glucocorticoid deficiency without pigmentation|Glucocorticoid deficiency |Cushing syndrome|Androgen secretion, association with|Adrenal hypoplasia, salt-losing|ACTH responsiveness, association with|ACTH hypersensitivity syndrome,-	COSMIC,COSMIC,ICGC,
chr8	35469074	35469074	G	A	intronic	UNC5D	unknown	SNV	-	-	-	3.229e-05	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-	-	ICGC,
chr4	105600142	105600142	C	T	intergenic	CXXC4,TET2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Refractory cytopaenia with multilineage dysplasia|Prostate cancer|Potential protein deficiency|Myeloproliferative neoplasms|Myelodysplastic/myeloproliferative disease	ICGC,
chr11	41941669	41941669	G	T	intergenic	LOC102723644,LOC100507205	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5911120	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr3	71101696	71101696	G	T	exonic	FOXP1	nonsynonymous	SNV	0.016	0.844	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	mortality/aging	Speech delay, contractures, hypertonia & blepharophimosis|Mental retardation, speech and language deficits|Intellectual disability & autism|Intellectual disability|Delayed speech/motor development & Chiari I malformation|Congenital heart defects|Childhood apraxia of speech|Autism, speech delay and deficit of motor coordination|Autism spectrum disorder  	ICGC,
chr20	57260372	57260372	A	C	ncRNA_intronic	STX16-NPEPL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr18	3879948	3879948	G	T	exonic	DLGAP1	nonsynonymous	SNV	0.282	0.958	-	-	-	-	-	-	-	COSM6556799	-	-	-	-	-	Schizophrenia  	COSMIC,COSMIC,
chr6	55421055	55421055	A	C	intronic	HMGCLL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr11	124390885	124390885	G	A	intergenic	OR8B8,OR8B12	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	ICGC,
chr5	51057793	51057793	G	A	intergenic	ISL1,PELO	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype,mortality/aging	Cardiomyopathy, dilated|Diabetes, type 2|Intellectual and developmental disabilities,-	ICGC,
chr2	71989416	71989416	A	G	intergenic	DYSF,CYP26B1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	behavior/neurological phenotype,mortality/aging	Miyoshi myopathy.|Muscular dystrophy|Muscular dystrophy, Duchenne|Muscular dystrophy, limb girdle|Muscular dystrophy, limb girdle / Miyoshi myopathy|Muscular dystrophy, limb girdle 2B|Muscular dystrophy, limb girdle 2B.|Potential protein deficiency|Stiffness|Miyoshi myopathy|Limb-girdle muscular dystrophy type 2B|HyperCKemia|Bent spine syndrome.|Distal anterior compartment myopathy.|Distal anterior phenotype|Dysferlinopathy|Dysferlinopathy with cardiac involvement.|Dysferlinopathy, congenital onset|Dysferlinopathy, proximodistal|Dysferlinopathy, pseudometabolic|Dysferlinopathy.,Multiple skeletal anomalies	ICGC,
chr6	53482577	53482577	C	T	intergenic	LOC101927136,KLHL31	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	26378830	26378830	C	A	intergenic	LOC340107,CDH9	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16931801	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	COSMIC,ICGC,
chr2	231794038	231794038	C	T	intergenic	GPR55,SPATA3-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype,-	Anorexia nervosa, association with,-	ICGC,
chr4	100995504	100995504	A	G	intergenic	LOC256880,DDIT4L	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,Potential protein deficiency	ICGC,
chr14	71328113	71328113	G	A	intergenic	MAP3K9,PCNX	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	-,-	ICGC,
chr14	76669752	76669752	C	T	UTR3	GPATCH2L	unknown	SNV	-	-	-	3.23e-05	rs377045095	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-	-	ICGC,
chr2	18369495	18369495	G	A	intergenic	KCNS3,NT5C1B-RDH14	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Airway hyperresponsiveness, association with ,-	ICGC,
chr1	155294063	155294063	C	T	UTR5	RUSC1	unknown	SNV	-	-	-	-	rs773273526	-	-	-	-	-	-	GACA-JP|1|585|0.00171	-	-	-	-	ICGC,
chr6	99043877	99043877	G	-	intergenic	MIR2113,POU3F2	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,integument phenotype	-,-	ICGC,
chr3	182465952	182465952	T	A	intergenic	FLJ46066,ATP11B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Autism spectrum disorder	ICGC,
chr12	84800494	84800494	C	T	intergenic	TMTC2,SLC6A15	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,reproductive system phenotype	-,Increased maximal 3H proline uptake	ICGC,
chr14	26877755	26877755	G	T	intergenic	STXBP6,NOVA1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25002239	-	LICA-FR|1|252|0.00397	-	-	-,mortality/aging	-,-	COSMIC,ICGC,
chr10	110808863	110808863	C	T	intergenic	SORCS1,RNU6-53P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	other phenotype,-	Autism ,-	ICGC,
chr10	30577514	30577514	GG	AA	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr21	9593088	9593088	G	A	intergenic	NONE,MIR3648-1	unknown	SNV	-	-	-	0.0002	rs528458229	-	0.00738818	-	-	-	-	LAML-KR|1|205|0.00488,LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr14	83094810	83094810	C	A	intergenic	LOC101928559,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5172490	-	BRCA-UK|1|141|0.00709,BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,COSMIC,ICGC,
chr3	109547565	109547565	C	T	intergenic	LINC01205,PVRL3-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr1	78969641	78969641	A	G	intronic	PTGFR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	reproductive system phenotype	-	ICGC,
chr4	138348115	138348115	T	A	intergenic	LINC00613,PCDH18	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17049377	-	-	-	-	-,-	-,Intellectual disability  	COSMIC,
chr4	9784643	9784643	G	A	exonic	DRD5	synonymous	SNV	-	-	0.0009	0.0028	rs139981364	0.0012	0.00359425	0.0045	-	COSM6484449	-	-	-	-	vision/eye phenotype	Schizophrenia  |Receptor variant|Receptor deficiency	COSMIC,
chr4	168103570	168103570	A	T	intronic	SPOCK3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr16	11779318	11779318	G	A	intronic	TXNDC11	unknown	SNV	-	-	-	0.3445	rs34340800	-	0.243011	-	0.188	-	-	LAML-KR|1|205|0.00488	-	-	-	-	ICGC,
chr7	119193790	119193790	C	T	intergenic	ANKRD7,KCND2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22328037	-	BRCA-EU|1|569|0.00176	-	-	-,integument phenotype	-,Epilepsy, temporal lobe	COSMIC,ICGC,
chr12	2164655	2164655	A	-	intronic	CACNA1C	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	integument phenotype	Timothy syndrome|Schizophrenia / bipolar disorder, assoc with |Schizophrenia  |Long QT syndrome.|Long QT syndrome|Early repolarization syndrome|Cardiomyopathy, hypertrophic.|Cardiomyopathy, hypertrophic|Cardiac arrhythmia|Brugada syndrome (shorter-than-normal QT interval)|Autism spectrum disorder	ICGC,
chr15	22382957	22382957	T	G	exonic	OR4N4	nonsynonymous	SNV	0.0	0.998	4.103e-06	-	-	-	-	-	-	COSM6198096	-	GACA-CN|1|123|0.00813	-	-	-	-	COSMIC,ICGC,
chr7	118999079	118999079	C	T	intergenic	ANKRD7,KCND2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Epilepsy, temporal lobe	ICGC,
chr5	11791506	11791506	A	G	intronic	CTNND2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6858639	-	LIRI-JP|1|258|0.00388	-	-	behavior/neurological phenotype	Schizophrenia  |Lennox-Gastaut syndrome |Autism spectrum disorder|Anorectal malformation|Altered localisation	COSMIC,ICGC,
chr3	66745543	66745544	CA	-	intergenic	LRIG1,KBTBD8	unknown	deletion	-	-	-	0.0040	rs375556549	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	integument phenotype,-	-,-	ICGC,
chr2	195868199	195868199	C	T	intergenic	LOC101927431,SLC39A10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chrX	3273554	3273554	-	TATTATT	intergenic	MXRA5,PRKX	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	Autism spectrum disorder,-	ICGC,
chr8	94546273	94546273	G	T	ncRNA_intronic	LINC00535	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	-	-	ICGC,
chr6	92947569	92947569	A	T	intergenic	CASC6,EPHA7	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20298107	-	LUSC-KR|1|170|0.00588	-	-	-,nervous system phenotype	-,Development delay and dysmorphic features|Leukemia, risk, association with 	COSMIC,ICGC,
chr7	125197299	125197299	C	T	intergenic	LOC101928283,GRM8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,behavior/neurological phenotype	-,Attention deficit hyperactivity disorder|Autism spectrum disorder  	ICGC,
chr2	68839963	68839963	C	G	intergenic	APLF,PROKR1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	hematopoietic system phenotype,integument phenotype	Potential protein deficiency,Hirschsprung disease 	ICGC,
chr2	180638054	180638054	C	G	intronic	ZNF385B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	Mental retardation  	ICGC,
chr19	31941221	31941221	G	A	intergenic	TSHZ3,THEG5	unknown	SNV	-	-	-	-	rs112936983	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	-,-	ICGC,
chr17	65281960	65281960	C	T	intergenic	HELZ,PSMD12	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	normal phenotype,-	-,-	ICGC,
chr15	102119393	102119393	-	TGAGGGG	intergenic	PCSK6,TM2D3	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	mortality/aging,-	Handedness, association with,-	ICGC,
chr9	138440242	138440242	C	T	intronic	OBP2A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN18857053	-	-	-	-	-	-	COSMIC,
chr2	77009177	77009177	A	C	intronic	LRRTM4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr13	71268671	71268671	T	-	intergenic	ATXN8OS,LINC00348	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	behavior/neurological phenotype,-	Huntington disease  |Spinocerebellar ataxia 8,-	ICGC,
chr16	65237344	65237344	C	T	intergenic	LOC101927650,LINC00922	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr17	1720450	1720450	G	C	intronic	SMYD4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr18	65730035	65730035	T	C	intergenic	LOC643542,TMX3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	59279399	59279399	G	A	ncRNA_intronic	LINC01122	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr6	129698649	129698649	G	A	intronic	LAMA2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Muscular dystrophy, merosin deficient|Myopathy with sarcotubular proliferation|Schizophrenia  |Tuberculoid leprosy, association with |Muscular dystrophy, limb girdle|Muscular dystrophy, congenital 1A.|Muscular dystrophy, congenital 1A, atypical|Muscular dystrophy, congenital 1A|Laminin alpha 2 chain deficiency, partial|Cardiomyopathy, dilated, type 1A	ICGC,
chr5	42786542	42786544	GAT	-	intronic	CCDC152	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr16	18674294	18674294	A	C	intergenic	ABCC6P1,RPS15A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8486975	-	OV-AU|1|93|0.01075	-	-	-,-	-,-	COSMIC,COSMIC,ICGC,
chr2	44472561	44472561	T	C	intergenic	PPM1B,SLC3A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,skeleton phenotype	-,Cystinuria|Hypotonia-Cystinuria syndrome|Hypotonia-Cystinuria syndrome, atypical	ICGC,
chr10	117407564	117407564	T	-	intronic	ATRNL1	unknown	deletion	-	-	-	-	-	-	-	-	-	COSN22884790	-	BRCA-EU|1|569|0.00176	-	-	integument phenotype	Cognitive impairment, autism & dysmorphic features 	COSMIC,ICGC,
chr6	31315501	31315501	A	G	intergenic	HLA-C,HLA-B	unknown	SNV	-	-	-	0.7341	rs9265961	-	0.767372	-	0.739	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	Reduced HIV viral load, association with|Psoriasis, association with|HLA-C null allele|HLA-C low expression allele|HIV, slower progression to AIDS|Altered expression,Rheumatoid arthritis, susceptibility, association|Rheumatoid arthritis, seronegative, association with|HLA-B null allele|HLA-B low expression allele|Ankylosing spondylitis, reduced risk, association with 	ICGC,
chrX	75902183	75902183	C	A	ncRNA_intronic	LOC101928469	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9097324	-	OV-AU|1|93|0.01075	-	-	-	-	COSMIC,ICGC,
chr18	72796843	72796843	A	C	intergenic	ZNF407,ZADH2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8751311	-	ESAD-UK|1|301|0.00332	-	-	-,-	Intellectual disability and autism|Potential protein deficiency|Schizophrenia  ,-	COSMIC,ICGC,
chr19	24569031	24569031	G	A	intergenic	HAVCR1P1,NONE	unknown	SNV	-	-	-	0	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	155414768	155414768	C	T	intronic	ASH1L	unknown	SNV	-	-	-	0.1132	rs12730906	-	0.0477236	-	0.007	-	-	ESAD-UK|1|301|0.00332	-	-	-	Intellectual disability  |Schizophrenia	ICGC,
chr8	37941239	37941239	C	T	intergenic	EIF4EBP1,ASH2L	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	cellular phenotype,mortality/aging	-,-	ICGC,
chr14	39554824	39554824	G	C	intronic	SEC23A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15286949	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Autism spectrum disorder|Cranio-lenticulo-sutural dysplasia	COSMIC,ICGC,
chr8	106043876	106043876	C	A	intergenic	LRP12,ZFPM2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,integument phenotype	-,Atrial septal defect & gonadal dysgenesis|Diaphragmatic hernia, congenital|Double outlet right ventricle |Gonadal dysgenesis |Reduced activity|Tetralogy of Fallot 	ICGC,
chr14	70697992	70697992	A	G	intergenic	SLC8A3,ADAM21P1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	behavior/neurological phenotype,-	-,-	ICGC,
chr14	89202778	89202778	C	T	exonic	EML5	nonsynonymous	SNV	0.002	0.175	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr9	69841950	69841950	G	A	intergenic	LOC101928381,FOXD4L5	unknown	SNV	-	-	-	0	-	-	-	-	-	-	-	OV-AU|1|93|0.01075	-	-	-,-	-,-	ICGC,
chr11	90007312	90007312	G	T	ncRNA_intronic	DISC1FP1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN14524892	-	PACA-AU|1|391|0.00256	-	-	-	-	COSMIC,COSMIC,ICGC,
chr13	76501421	76501421	G	A	intergenic	LMO7DN,KCTD12	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	99626373	99626373	G	A	intergenic	TSPAN5,EIF4E	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,cellular phenotype	-,Autism  	ICGC,
chr2	62872232	62872232	C	T	intergenic	TMEM17,EHBP1	unknown	SNV	-	-	-	0.7139	rs111247351	-	0.741613	-	0.058	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr1	37778731	37778731	A	C	intergenic	MIR4255,LINC01137	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr3	85159903	85159903	A	T	intronic	CADM2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chrX	14889192	14889192	G	C	intronic	FANCB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	Fanconi anaemia|VACTERL with Fanconi anaemia|VACTERL-H	ICGC,
chr8	69938974	69938974	C	T	ncRNA_intronic	LOC100505718	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr2	184751153	184751153	C	T	intergenic	NUP35,ZNF804A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|2|100|0.02000	-	-	-,-	-,Neurodevelopmental disease|Reduced cortical gray matter thickness|Schizophrenia and bipolar disorder, association with|Schizophrenia, association with  	ICGC,
chr1	120120010	120120011	TC	-	intergenic	HSD3BP4,LINC00622	unknown	deletion	-	-	-	0.0003	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr9	113105489	113105489	C	A	intergenic	TXNDC8,SVEP1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26382453	-	PRAD-UK|1|140|0.00714	-	-	-,-	-,-	COSMIC,ICGC,
chr9	111444358	111444358	-	T	intergenic	KLF4,ACTL7B	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|4|71|0.05634	-	-	integument phenotype,-	-,Schizophrenia	ICGC,
chr12	87560112	87560112	T	C	intergenic	MGAT4C,MKRN9P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	Prostate cancer, increased risk |Mental retardation,-	ICGC,
chr11	47784003	47784003	C	T	intronic	FNBP4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26418758	-	PRAD-UK|1|140|0.00714	-	-	-	Microphthalmia with limb anomalies	COSMIC,ICGC,
chr2	5493643	5493643	A	T	intergenic	LINC01249,LINC01248	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr8	52508553	52508553	C	T	intronic	PXDNL	unknown	SNV	-	-	-	3.231e-05	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,BRCA-FR|1|72|0.01389,MELA-AU|2|183|0.01093	-	-	-	-	ICGC,
chr18	48781777	48781777	G	A	intergenic	MEX3C,LOC100287225	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	-,-	ICGC,
chr10	25678963	25678963	C	T	intronic	GPR158	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr5	7437042	7437042	T	G	intronic	ADCY2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr1	18517587	18517587	C	T	intronic	IGSF21	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr5	84082938	84082938	T	G	intergenic	EDIL3,NBPF22P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	immune system phenotype,-	Schizophrenia  ,-	ICGC,
chr15	63784070	63784070	G	A	intergenic	LOC102723344,USP3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23430012	-	EOPC-DE|1|202|0.00495	-	-	-,-	-,-	COSMIC,ICGC,
chr2	75189541	75189541	T	G	intronic	POLE4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr7	121294327	121294327	C	T	intergenic	FAM3C,PTPRZ1	unknown	SNV	-	-	-	3.281e-05	-	-	-	-	-	COSN14589860	-	PACA-AU|1|391|0.00256	-	-	-,integument phenotype	Obesity, coarse features, short stature, developmental delay & hypoplastic fifth digit,-	COSMIC,ICGC,
chr13	99859247	99859247	C	T	intronic	UBAC2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21699110	-	BRCA-EU|1|569|0.00176	-	-	-	Behcet disease, association with	COSMIC,ICGC,
chr9	135928002	135928002	A	G	intronic	GTF3C5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2312229	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging	-	COSMIC,ICGC,
chr4	37044642	37044642	T	-	intergenic	DTHD1,MIR4801	unknown	deletion	-	-	-	-	-	-	-	-	-	COSN22848063	-	LMS-FR|2|67|0.02985,BRCA-EU|1|569|0.00176	-	-	-,-	Leber congenital amaurosis with myopathy,-	COSMIC,ICGC,
chr20	8224055	8224055	T	A	intronic	PLCB1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	RECA-EU|1|422|0.00237	-	-	mortality/aging	Wolff-Parkinson-White syndrome|Schizophrenia  |Malignant migrating partial seizures in infancy|Epileptic encephalopathy, severe infantile|Epileptic encephalopathy, early onset|Atrioventricular septal defects	ICGC,
chr7	27238774	27238774	C	A	splicing	HOXA13	splicing	SNV	-	-	-	-	-	-	-	-	-	-	LUAD|2|543|0.00368	-	-	-	integument phenotype	Hand-foot-genital syndrome, heart defects & facial anomalies|Hand-foot-genital syndrome|Guttmacher syndrome	TCGA,
chr5	32313758	32313758	-	CTGT	upstream	MTMR12	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	Autism	ICGC,
chr2	191839598	191839598	G	A	exonic	STAT1	synonymous	SNV	-	-	1.625e-05	-	rs778900428	2.475e-05	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	integument phenotype	STAT1 deficiency|Mucocutaneous candidiasis |IPEX-like syndrome.|IPEX-like syndrome|Impaired mycobacterial immunity|Immunodeficiency, severe combined.|Immunodeficiency, severe combined|Fusariosis, recalcitrant cutaneous|Disseminated mucormycosis|Disseminated histoplasmosis|Disseminated coccidioidomycosis	ICGC,
chr2	84060663	84060663	C	T	intergenic	LOC1720,FUNDC2P2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr20	53755435	53755435	C	A	intergenic	DOK5,LINC01441	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	-,-	ICGC,
chr13	101540348	101540348	G	A	ncRNA_intronic	NALCN-AS1	unknown	SNV	-	-	-	0.0002	rs181059580	-	0.000599042	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-	-	ICGC,
chr2	50884592	50884592	C	T	intronic	NRXN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Hypotonia|Hypotonia & encephalopathy|Increased white matter volume, association with|Intellectual disability  |Intellectual disability & attention deficit hyperactivity disorder|Intellectual disability & hearing loss|Intellectual disability & pervasive developmental disorder|Intellectual disability and autism|Intellectual disability, nonsyndromic |Intellectual disability, seizures, dysmorphisms & language delay|Growth retardation  |Epilepsy, myoclonic seizures & speech delay|Developmental disorder|Developmental disorder & attention deficit hyperactivity disorder|Developmental disorder, seizures & attention deficit hyperactivity disorder|Developmental/intellectual disability, hypotonia & dysmorphic features|Disorder of muscle, ligament & fascia|Encephalopathy  |Epilepsy  |Epilepsy with cognitive impairment / autism spectrum disorder|Epilepsy with focal seizures|Epilepsy, generalised |Intellectual disability, seizures, language delay & hypotonia|Language delay|Learning difficulties|Respiratory distress & sepsis|Respiratory distress syndrome|Schizophrenia |Schizophrenia, childhood onset |Schizophrenia, disorganised type|Seizures, generalized tonic-clonic & attention deficit hyperactivity disorder|Sensory integration disorder & attention deficit hyperactivity disorder|Speech delay & social communication difficulties|Tourette syndrome|Pervasive developmental disorder / hypotonia|Pervasive developmental disorder|Pervasive developmental delay / mental retardation, lack of coordination & hearing loss|Learning difficulties, ADHD & autism|Mental retardation|Mental retardation, autism, vertebral malformations|Mental retardation, Pitt-Hopkins-like|Microcephaly & mental retardation|Multiple congenital anomalies  |Multiple disabilities|Myoclonic epilepsy   |Neurodevelopmental disorder  |Vertebral anomalies|Developmental delay, speech delay & social communication difficulties|Attention deficit hyperactivity disorder |Autism spectrum disorder, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability & language delay|Autism spectrum disorder, intellectual disability, dysmorphisms, developmental delay & language delay|Autism spectrum disorder, intellectual disability, seizures & developmental delay|Autism spectrum disorder, intellectual disability, seizures, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability, seizures, dysmorphisms & language delay|Autism spectrum disorder, seizures, developmental delay & language delay|Autism, intellectual disability & attention deficit hyperactivity disorder|Autistic disorder|Autism spectrum disorder with developmental & speech delay|Autism spectrum disorder & seizures|Autism spectrum disorder & language delay|Autism |Autism & learning difficulties|Autism & mental retardation|Autism & seizures|Autism spectrum disorder|Autism spectrum disorder & attention deficit hyperactivity disorder|Autism spectrum disorder & developmental delay|Autism spectrum disorder & dysmorphic features|Autism spectrum disorder & intellectual disability|Behavioural problems|Congenital heart defect  |Craniofacial dysmorphism|Developmental delay & speech/motor delay|Developmental delay with early-onset epilepsy|Developmental delay, dysmorphic features & short stature|Developmental delay, epilepsy, autism|Developmental delay, language delay & hypotonia|Developmental delay, learning difficulties, ADHD|Developmental delay, microcephaly & behavioural problems|Developmental delay, pulmonic stenosis & autism spectrum disorder|Developmental delay, short stature and diaphragmatic hernia|Developmental delay, speech delay & microcephaly|Developmental delay & seizures|Developmental delay & seizure disorder|Cystic hygroma, hydrops & micrognathia|Cystic hygroma, shortened upper limbs & fetal demise|Developmental & speech delay|Developmental delay|Developmental delay / autism|Developmental delay & autism|Developmental delay & dysmorphic features|Developmental delay & epilepsy|Developmental delay & hypotonia|Developmental delay & multiple congenital anomalies	ICGC,
chr3	162758270	162758270	C	T	intergenic	OTOL1,LINC01192	unknown	SNV	-	-	-	0.7448	rs11922558	-	0.834265	-	0.703	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr7	151482034	151482034	G	T	intronic	PRKAG2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	Wolff-Parkinson-White syndrome|Ventricular pre-excitation & cardiac hypertrophy|Sinus bradycardia, short PR interval, right bundle bunch block|PRKAG2 cardiac syndrome|Left ventricular hypertrophy|Hypertrophy, moderate|Hypertrophy, left ventricular|Glucose/Lipid metabolism,  association with|Cognitive impairment, association with|Cardiomyopathy, hypertrophic|Cardiomyopathy|Cardiac glycogenosis|Breast cancer, ER negative, association with 	ICGC,
chr15	25074840	25074840	A	G	intronic	SNRPN	unknown	SNV	-	-	-	0.0139	rs76532218	-	0.0145767	-	0.014	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Prader-Willi syndrome|Asperger syndrome|Angelman syndrome	ICGC,
chr7	5261595	5261595	-	TT	intronic	WIPI2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	-	ICGC,
chr13	82739762	82739764	GGT	-	intergenic	SPRY2,SLITRK1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LAML-KR|1|205|0.00488	-	-	mortality/aging,mortality/aging	Cleft lip ,Trichotillomania|Tourette syndrome|Obsessive-compulsive disorder |Attention deficit hyperactivity disorder 	ICGC,
chr4	4879695	4879695	G	A	intergenic	MSX1,CYTL1	unknown	SNV	-	-	-	0.0155	rs73081969	-	0.0163738	-	0.043	COSN14860526	-	PACA-AU|1|391|0.00256	-	-	integument phenotype,skeleton phenotype	Tooth agenesis|Tooth agenesis and orofacial clefting|Tooth agenesis with cleft lip|Upper lateral incisor agenesis, association with|Witkop syndrome|Witkop syndrome.|Oligodontia in Wolf-Hirschhorn syndrome|Oligodontia|Hypodontia|Breast cancer, association with|Cleft lip and palate|Cleft lip and palate with tooth agenesis, association with|Cleft lip with or without cleft palate, association |Cleft lip with or without cleft palate, nonsyndromic|Cleft lip, incomplete ,-	COSMIC,ICGC,
chr1	14849547	14849547	G	A	intergenic	PRDM2,KAZN	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,hematopoietic system phenotype	Bone mineral density, association with ,-	ICGC,
chr9	135147727	135147727	G	C	intronic	SETX	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-	Cerebellar ataxia/tremor syndrome |Cervical dystonia, primary.|Childhood apraxia of speech ?|Chorea and motor neuron disease|Spinal muscular atrophy |Ataxia-ocular apraxia 2, atypical|Ataxia-ocular apraxia 2|Amyotrophic lateral sclerosis   |Amyotrophic lateral sclerosis ?|Amyotrophic lateral sclerosis 4, juvenile|Ataxia with neuropathy|Ataxia with oculomotor apraxia	ICGC,
chr14	33543790	33543790	T	G	intronic	NPAS3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Mental illness|Schizophrenia	ICGC,
chr2	27522583	27522583	-	TAAC	intronic	TRIM54	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	mortality/aging	-	ICGC,
chrX	11289630	11289630	G	A	intronic	ARHGAP6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	mortality/aging	Microphthalamia with linear skin defects	ICGC,
chr4	43084485	43084485	G	A	intergenic	GRXCR1,KCTD8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	RECA-EU|1|422|0.00237	-	-	behavior/neurological phenotype,-	Hearing impairment, nonsyndromic, autosomal recessive,-	ICGC,
chr18	36767197	36767197	A	T	intergenic	MIR4318,LINC00669	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr10	7591456	7591456	C	T	intergenic	SFMBT2,ITIH5	unknown	SNV	-	-	-	3.244e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	292486	292486	G	A	intergenic	ZNF732,ZNF141	unknown	SNV	-	-	-	0.0508	rs73791821	-	0.0409345	-	0.022	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Postaxial polydactyly type A	ICGC,
chr5	156890504	156890504	G	T	intronic	NIPAL4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	Ichthyosis, autosomal recessive|Ichthyosis, harlequin	ICGC,
chr18	23466257	23466257	G	A	intergenic	ZNF521,SS18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	skeleton phenotype,mortality/aging	-,-	ICGC,
chr1	30734193	30734193	T	G	intergenic	LOC101929406,MATN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,skeleton phenotype	-,-	ICGC,
chr2	99493465	99493465	G	A	intronic	KIAA1211L	unknown	SNV	-	-	-	3.229e-05	-	-	-	-	-	COSN9394386	-	OV-AU|1|93|0.01075	-	-	-	Schizophrenia    	COSMIC,ICGC,
chr2	230132689	230132689	G	C	intronic	PID1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23666628	-	ESAD-UK|1|301|0.00332	-	-	-	Anorectal malformation	COSMIC,ICGC,
chr11	80675474	80675474	C	T	intergenic	LOC101928944,LOC101928989	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr10	94191206	94191206	C	T	intergenic	MARK2P9,IDE	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN14820121	-	PAEN-AU|1|52|0.01923	-	-	-,hematopoietic system phenotype	-,Alzheimer disease, late-onset, decreased risk	COSMIC,ICGC,
chr5	140716683	140716683	-	GAGAA	intronic	PCDHGA1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	normal phenotype	-	ICGC,
chr6	164785429	164785429	C	G	intergenic	QKI,C6orf118	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	mortality/aging,-	6q terminal deletion syndrome,-	ICGC,
chr2	33380778	33380778	C	T	intronic	LTBP1	unknown	SNV	-	-	-	0.0137	rs76639587	-	0.00858626	-	0.022	-	-	LAML-KR|1|205|0.00488	-	-	mortality/aging	Increased expression |Autism	ICGC,
chr1	196499837	196499837	T	C	intronic	KCNT2	unknown	SNV	-	-	-	0.0696	rs115013492	-	0.0223642	-	0.029	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr19	33217255	33217255	G	A	intronic	TDRD12	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr2	40656993	40656993	C	A	exonic	SLC8A1	nonsynonymous	SNV	0.0	1.0	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Colorectal cancer, increased risk, association with |Schizophrenia  	ICGC,
chr16	65068329	65068329	A	G	intronic	CDH11	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	integument phenotype	-	ICGC,
chr12	34623673	34623673	G	A	intergenic	ALG10,NONE	unknown	SNV	-	-	-	0.2766	rs11519415	-	0.168331	-	0.210	-	-	ESAD-UK|2|301|0.00664	-	-	-,-	-,-	ICGC,
chr2	104967403	104967403	T	A	intergenic	TMEM182,LOC100287010	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr6	101802815	101802815	G	A	intergenic	ASCC3,GRIK2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	other phenotype,behavior/neurological phenotype	Colorectal cancer, increased risk, association with|Intellectual disability  ,Mental retardation, non-syndromic, autosomal recessive	ICGC,
chr4	164336608	164336608	C	T	intergenic	NPY5R,TKTL2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	behavior/neurological phenotype,-	-,-	ICGC,
chr11	38907026	38907026	A	G	intergenic	LOC101928536,LRRC4C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	ICGC,
chr16	24922661	24922661	C	-	exonic	SLC5A11	frameshift	deletion	-	-	-	-	-	-	-	-	-	COSM1684441	-	-	-	-	-	Reduced serum myo-inositol concentration	COSMIC,
chr7	75584088	75584088	C	T	intronic	POR	unknown	SNV	-	-	-	0.0002	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	mortality/aging	Reduced transcription|Reduced 17,20 lyase activity|POR deficiency|Disordered steroidogenesis|Breast cancer, advanced, in African Americans, association|Antley-Bixler syndrome / disorder of sex development|Antley-Bixler syndrome|Altered function|Altered enzyme activity|Adrenal hyperplasia	ICGC,
chr13	81940254	81940254	G	A	intergenic	SPRY2,NONE	unknown	SNV	-	-	-	0	-	-	-	-	-	COSN7419719	-	PAEN-AU|1|52|0.01923	-	-	mortality/aging,-	Cleft lip ,-	COSMIC,COSMIC,ICGC,
chr2	67934000	67934000	G	A	intergenic	ETAA1,LOC101927701	unknown	SNV	-	-	-	0.0029	rs147817996	-	0.00379393	-	-	COSN9384522	-	OV-AU|1|93|0.01075	-	-	-,-	-,-	COSMIC,ICGC,
chr7	104553972	104553972	C	G	ncRNA_intronic	LHFPL3-AS2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-	-	ICGC,
chr15	59582388	59582388	A	G	intronic	MYO1E	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6276995	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging	Focal segmental glomerulosclerosis, childhood familial|Nephrotic syndrome  |Nephrotic syndrome, steroid resistant	COSMIC,ICGC,
chr8	115548939	115548939	G	-	intergenic	CSMD3,TRPS1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332,PRAD-CA|1|308|0.00325	-	-	-,integument phenotype	Schizophrenia  |Colorectal cancer ,Tricho-rhino-phalangeal syndrome with supernumerary teeth|Tricho-rhino-phalangeal syndrome III|Tricho-rhino-phalangeal syndrome I|Tricho-rhino-phalangeal syndrome|Infantile scoliosis & developmental delay|Femoral neck width, association with|Ambras syndrome	ICGC,
chr2	12522610	12522610	-	A	ncRNA_intronic	LOC100506457	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PACA-AU|1|391|0.00256	-	-	-	-	ICGC,
chr2	76248517	76248517	A	G	intergenic	GCFC2,LRRTM4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16750019	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr7	76533337	76533337	T	A	intergenic	LOC100133091,DTX2P1-UPK3BP1-PMS2P11	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr13	106544874	106544874	C	A	intergenic	LINC00343,LINC00460	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17738229	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr13	63569577	63569577	G	A	intergenic	LINC00448,LINC00395	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr5	16029297	16029297	C	T	intergenic	FBXL7,MARCH11	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr21	26083993	26083993	G	A	intergenic	LOC101927869,LOC339622	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr19	22586072	22586072	A	C	intronic	ZNF98	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-	-	ICGC,
chr1	153309754	153309754	G	A	exonic	PGLYRP4	synonymous	SNV	-	-	0.0001	0.0002	rs184556258	0.0002	0.000399361	0.0002	-	-	ACC|1|90|0.01111	-	-	-	mortality/aging	Crohn's disease, increased risk 	TCGA,
chr2	188619036	188619036	G	A	intergenic	TFPI,GULP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Increased plasma TFPI|Lower plasma TFPI|Reduced expression|Thrombophilia, association with,-	ICGC,
chr1	76490392	76490392	G	A	intergenic	ASB17,ST6GALNAC3	unknown	SNV	-	-	-	0.0003	rs576072690	-	0.000199681	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-,-	-,-	ICGC,
chr1	101015444	101015444	C	T	intergenic	GPR88,LINC01349	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	no phenotypic analysis,-	-,-	ICGC,
chr19	57115151	57115151	-	T	intronic	ZNF71	unknown	insertion	-	-	-	0.0067	rs375646377	-	-	-	-	COSN27484102	-	-	-	-	-	-	COSMIC,
chr3	161437086	161437086	C	T	intergenic	OTOL1,LINC01192	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	174229995	174229995	G	A	intergenic	MIR4634,FLJ16171	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr20	51857267	51857267	-	TATA	intronic	TSHZ2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	mortality/aging	Schizophrenia	ICGC,
chr15	57821586	57821586	G	C	intronic	CGNL1	unknown	SNV	-	-	-	0.0006	rs77992193	-	0.0131789	-	0.007	-	-	LAML-KR|1|205|0.00488	-	-	-	-	ICGC,
chr7	93697948	93697948	C	T	intergenic	BET1,COL1A2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24867820	-	PBCA-DE|1|499|0.00200	-	-	-,integument phenotype	-,Osteogenesis imperfecta Ib|Osteogenesis imperfecta II|Osteogenesis imperfecta II.|Osteogenesis imperfecta II/III|Osteogenesis imperfecta III|Osteogenesis imperfecta III/IV|Osteogenesis imperfecta IV|Osteogenesis imperfecta IV.|Osteogenesis imperfecta/Ehlers-Danlos syndrome|Osteoporosis|Osteoporosis, juvenile|Tooth agenesis|Osteogenesis imperfecta I/IV|Osteogenesis imperfecta I|Osteogenesis imperfecta|Bone mineral density, association with|Ehlers-Danlos syndrome |Ehlers-Danlos syndrome VII|Ehlers-Danlos syndrome VII, with cardiac valve disease.|Ehlers-Danlos syndrome, hypermobile|Ehlers-Danlos syndrome/Osteogenesis imperfecta|Hepatocellular carcinoma, increased risk, association with|Increased transcription|Intracranial aneurysm, susceptibility, association with|Lower BMD / increased stroke risk|Marfan syndrome |Minor connective tissue anomaly 	COSMIC,ICGC,
chr1	172300451	172300451	T	G	intronic	DNM3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Reduced promoter activity	ICGC,
chr14	43441234	43441234	A	G	intergenic	LRFN5,FSCB	unknown	SNV	-	-	-	0.9743	rs7158939	-	0.983626	-	-	COSN6637195	-	-	-	-	-,-	Short stature|Developmental delay, seizures & learning problems ,Tourette syndrome 	COSMIC,
chr17	7577037	7577037	G	T	exonic	TP53	nonsynonymous	SNV	0.07	0.001	-	-	-	-	-	-	-	COSM46137	-	-	-	-	integument phenotype	Longevity, association with|Lung cancer|Lung cancer, association with|Lung cancer, increased risk, association with|Medulloblastoma|Medulloblastoma.|Meningioma|Multiple cancers|Multiple diverse neoplasms|Multiple primary cutaneous melanomas in Li-Fraumeni syndrome|Myelodysplastic/myeloproliferative disease|Neuroblastoma|Li-Fraumeni-like syndrome with gastric cancer|Li-Fraumeni-like syndrome|Li-Fraumeni syndrome.|Glioblastoma|Glioblastoma & colon cancer|Glioblastoma, earlier onset, association with|Glioma|Glioma, increased risk|Glioma, susceptibility to|Increased sperm aneuploidy|Leukaemia/lymphoma|Li-Fraumeni syndrome|Li-Fraumeni syndrome with gastric cancer|Li-Fraumeni Syndrome,  late onset|Li-Fraumeni syndrome, age-at-onset, association with|Neuroblastoma, susceptibility to|Neuroectodermal tumour|Oesophageal and gastric cancer, increased risk, association with|Rhabdomyosarcoma|Rhabdomyosarcoma-associated renal cell carcinoma|Rhabdomyosarcoma.|Sarcoma|Sarcoma, adult-onset|Schizophrenia, association with.|Smoking-induced lung function impairment, association with|Squamous cell carcinoma of head and neck, protection against, association with.|Teratoid-rhabdoid tumour, atypical.|Thyroid cancer|Thyroid tumour|TMZ-related acute lymphoblastic leukemia in anaplastic astrocytom|Reduced apoptotic ability, association with|Pulmonary pleomorphic carcinoma in Li-Fraumeni syndrome|Oesophageal squamous cell carcinoma, association with.|Oesophageal squamous cell carcinoma, increased risk|Osteosarcoma|Ovarian cancer ?|Ovarian carcinoma|Paediatric glioblastoma|Pediatric choroid plexus carcinoma and osteosarcoma|Peritoneal carcinoma|Phyllodes breast tumours.|Proliferative Vitreoretinopathy|Prostrate cancer|Protate cancer, onset, association with|Uterine serous carcinoma.|Accumulation of mtDNA damage, association with|Bladder cancer, increased risk|Blood pressure changes over time, association with|Bone and liver tumours.|Breast and colorectal cancer|Breast and ovarian cancer|Breast and/or ovarian cancer|Breast cancer|Breast cancer ?|Breast cancer, age of onset, association with|Breast cancer, association with|Breast cancer, early-onset, association with|Breast cancer, increased risk|Bilateral breast and endometrial adenocarcinoma|Basal cell carcinoma, increased risk, association with|Acute lymphoblastic leukaemia|Acute lymphoblastic leukaemia, association with|Adenocarcinoma|Adrenocortical carcinoma|Adrenocortical carcinoma, childhood|Adrenocortical tumour |Altered activity|Altered transcriptional activity|Alzheimer disease, association with|Apoptosis of white blood cells in lung cancer, association with|Astrocytoma|Basal cell carcinoma |Breast cancer, susceptibility to|Breast cancer.|Breast/colorectal cancer, association with.|Decreased incidence of intestinal metaplasia|Diabetes, type 2, association with|Endometriosis, association with.|Ependymoma|Fallopian tube carcinoma|Familial adenomatous polyposis|Familial brain tumour syndrome|Fertility, association with|Gallbladder cancer, association with|Gastric cancer|Gastric cancer, association with|Glaucoma, association with|Cytosarcoma phyllodes|Cutaneous squamous cell carcinoma, association with|Colorectal cancer, increased risk, association with|Cancer, hereditary|Cancer, increased risk in men, association with|Cancer, increased risk, association with|Carcinoma|Carcinoma of Ampulla of Vater|Childhood adrenocortical carcinoma|Childhood adrenocortical tumour|Choroid plexus carcinoma|Choroid plexus carcinoma, childhood|Choroid plexus tumours|Chronic lymphocytic leukaemia, poor clinical outcome, association with|Colorectal cancer	COSMIC,
chr4	79295351	79295351	G	T	exonic	FRAS1	nonsynonymous	SNV	0.002	0.983	-	-	-	-	-	-	-	COSM4922645	LIHC|1|373|0.00268	LIHC-US|1|189|0.00529	-	-	integument phenotype	Renal agenesis |Fraser syndrome/Ablepharon macrostomia syndrome|Fraser syndrome	COSMIC,COSMIC,COSMIC,TCGA,ICGC,
chr15	20771609	20771609	T	C	ncRNA_exonic	GOLGA8CP	unknown	SNV	-	-	-	0.1113	rs554118666	-	0.063099	-	-	COSN20092902	-	PBCA-US|1|186|0.00538	-	-	-	-	COSMIC,COSMIC,ICGC,
chr2	7799536	7799536	G	A	intergenic	LOC100506274,LOC101929551	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr9	23044447	23044447	T	C	intergenic	LINC01239,LOC101929563	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	ICGC,
chr11	86558066	86558066	T	C	intergenic	PRSS23,OR7E2P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr5	24639352	24639352	C	T	intronic	CDH10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr1	109793580	109793580	G	A	exonic	CELSR2	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM6120124	LUAD|2|543|0.00368	-	-	-	reproductive system phenotype	Schizophrenia  	COSMIC,TCGA,
chr19	51573433	51573433	C	T	intergenic	KLK13,KLK14	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,Potential protein deficiency	ICGC,
chr1	19979329	19979329	A	C	intronic	MINOS1-NBL1,NBL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	-,integument phenotype	-,-	ICGC,
chrX	141105310	141105310	C	T	intergenic	MAGEC1,MAGEC2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Prostate cancer, predisposition to,-	ICGC,
chr9	2275897	2275897	G	A	intergenic	SMARCA2,VLDLR-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	integument phenotype,-	Short stature|Schizophrenia, association with   |Nicholaides-Baraitser syndrome|Multiple congenital anomalies  |Lung cancer, association with|Intellectual disabilty, short stature and dysmorphisms|Hepatocellular carcinoma, in smokers, association with.|Hepatocellular carcinoma, association with.|Developmental delay & dysmorphic features|Developmental delay & autistic features|Developmental delay  |Coffin-Siris syndrome,-	ICGC,
chr17	13154045	13154045	G	A	intergenic	ELAC2,HS3ST3A1	unknown	SNV	-	-	-	0.0031	rs138914413	-	0.00379393	-	-	-	-	SKCA-BR|2|100|0.02000,MELA-AU|1|183|0.00546	-	-	-,-	Prostate cancer, association with|Prostate cancer|Hypertrophic cardiomyopathy and complex I deficiency|Benign prostatic hyperplasia, association with,-	ICGC,
chr2	9114598	9114598	G	T	intronic	MBOAT2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr14	22251776	22251776	T	A	intergenic	OR4E2,DAD1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26451236	-	LIAD-FR|1|32|0.03125	-	-	-,mortality/aging	-,-	COSMIC,ICGC,
chr6	90111120	90111120	G	C	intronic	RRAGD	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25283465	-	MALY-DE|1|241|0.00415	-	-	-	-	COSMIC,ICGC,
chr20	30522580	30522580	T	C	exonic	TTLL9	unknown	SNV	0.002	0.002	-	-	-	-	-	-	-	COSM6811637	-	-	-	-	-	-	COSMIC,COSMIC,COSMIC,COSMIC,
chr7	26997703	26997703	C	T	intergenic	SKAP2,HOXA1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype,mortality/aging	-,Tetralogy of Fallot|Increased head circumference, in autism, association with|Faster head growth rate, in children, association with|Decreased cerebellar volume, association with|Bosley-Salih-Alorainy syndrome, BSAS|Autism spectrum disorder, association with|Athabaskan brainstem dysgenesis syndrome, ABDS|Accelerated cerebellar maturation, association with.	ICGC,
chr18	14481144	14481144	A	C	ncRNA_intronic	CXADRP3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-	-	ICGC,
chr4	46274111	46274111	G	T	intronic	GABRA2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9791177	-	RECA-EU|1|422|0.00237	-	-	integument phenotype	-	COSMIC,ICGC,
chr8	79338210	79338210	C	G	intergenic	PEX2,PKIA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,normal phenotype	Zellweger syndrome|Refsum disease, infantile|Peroxisome biogenesis disorder|Cerebellar ataxia, autosomal recessive,-	ICGC,
chr22	23785798	23785798	C	A	intergenic	LOC101929374,LOC388882	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	ICGC,
chr3	146886967	146886967	C	A	intergenic	PLSCR5,ZIC4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19207585	-	CLLE-ES|1|510|0.00196	-	-	-,mortality/aging	-,-	COSMIC,ICGC,
chr18	72760903	72760903	G	A	intronic	ZNF407	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	Intellectual disability and autism|Potential protein deficiency|Schizophrenia  	ICGC,
chr1	188760744	188760744	A	G	intergenic	PLA2G4A,BRINP3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging,-	Asthma, association with|Cryptogenic multifocal ulcerating stenosing enteritis|Increased enzyme activity|Prostanoid biosynthesis deficiency,-	ICGC,
chr1	187144373	187144373	A	G	intergenic	PLA2G4A,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	mortality/aging,-	Asthma, association with|Cryptogenic multifocal ulcerating stenosing enteritis|Increased enzyme activity|Prostanoid biosynthesis deficiency,-	ICGC,
chr15	97225264	97225264	G	A	intergenic	NR2F2,SPATA8-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	mortality/aging,-	Whole body insulin sensitivity, association with|Hypoplastic left heart syndrome|Cardiac abnormalities|Atrioventricular septum defects,-	ICGC,
chr14	90076987	90076987	G	C	intronic	FOXN3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21019595	-	BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr13	82529256	82529256	T	C	intergenic	SPRY2,SLITRK1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,mortality/aging	Cleft lip ,Trichotillomania|Tourette syndrome|Obsessive-compulsive disorder |Attention deficit hyperactivity disorder 	ICGC,
chrX	136212985	136212985	G	A	intergenic	GPR101,ZIC3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Situs abnormality|Heterotaxy|Congenital heart disease |Cardiac malformation	ICGC,
chr11	73007897	73007897	G	A	exonic	P2RY6	nonsynonymous	SNV	0.543	1.0	4.104e-06	-	rs748997159	-	-	-	-	COSM6736512	-	-	-	-	hematopoietic system phenotype	-	COSMIC,
chr2	103632158	103632158	C	T	intergenic	TMEM182,LOC100287010	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21381571	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr4	179835182	179835182	A	G	intergenic	LINC01098,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	ICGC,
chr4	103737472	103737472	A	G	intronic	UBE2D3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19341889	-	-	-	-	-	-	COSMIC,
chr14	96190828	96190828	G	A	intergenic	TCL1A,TUNAR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	reproductive system phenotype,-	-,-	ICGC,
chr12	79940192	79940192	A	G	intergenic	MIR5692B,PAWR	unknown	SNV	-	-	-	0.0431	rs11615312	-	0.0309505	-	0.014	-	-	ESAD-UK|1|301|0.00332	-	-	-,hematopoietic system phenotype	-,Schizophrenia in females, association with	ICGC,
chr1	96146683	96146683	G	T	intergenic	LOC100996635,LOC101928241	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17253535	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	COSMIC,ICGC,
chr4	27345457	27345457	G	T	intergenic	STIM2,MIR4275	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16864061	-	PACA-CA|1|268|0.00373	-	-	integument phenotype,-	-,-	COSMIC,ICGC,
chr14	83817672	83817672	C	T	intergenic	LOC101928559,LINC00911	unknown	SNV	-	-	-	-	rs750236016	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr8	71883874	71883874	A	G	intergenic	XKR9,EYA1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	Schizophrenia,Oto-facio-cervical syndrome|Peters' anomaly with cataracts|Renal hypodysplasia|Renal malformation|Ureteropelvic junction obstruction and reduced renal function|Iris anomaly|Hearing loss?|Deafness  |Cayler's cardiofacial syndrome|Cataract, autosomal dominant|Branchio-oto-renal syndrome|Branchio-oto-renal / branchiootic syndrome|Branchio-otic syndrome	ICGC,
chr3	112688787	112688787	G	A	intronic	CD200R1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	immune system phenotype	-	ICGC,
chr2	222425040	222425040	CC	TT	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr1	237853305	237853305	C	T	intronic	RYR2	unknown	SNV	-	-	-	0.0001	rs192207330	-	0.000199681	-	-	-	-	BRCA-UK|1|141|0.00709	-	-	mortality/aging	Long QT syndrome|Sudden cardiac death|Sudden cardiac death.|Sudden infant death syndrome|Sudden unexplained death  |Ventricular arrhythmia, in chronic heart failure, association with.|Ventricular tachycardia, polymorphic|Left ventricular noncompaction  |Left ventricular non-compaction.|Catecholaminergic polymorphic ventricular tachycardia.|Catecholaminergic polymorphic ventricular tachycardia|Cardiac arrhythmia|Arrhythmogenic right ventricular dysplasia/cardiomyopathy|Arrhythmogenic right ventricular dysplasia type 2|Arrhythmogenic right ventricular cardiomyopathy, association with|Arrhythmogenic right ventricular cardiomyopathy|Altered channel function	ICGC,
chr21	25741419	25741419	G	A	intergenic	LOC101927869,LOC339622	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr19	46770519	46770519	T	A	ncRNA_intronic	RNU6-66P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr6	132325354	132325354	C	G	intergenic	CTGF,LINC01013	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	integument phenotype,-	Hepatic fibrosis, association with|Nephropathy, in type 1 diabetes, association with|Systemic sclerosis, association with,-	ICGC,
chr13	102619175	102619175	G	A	intronic	FGF14	unknown	SNV	-	-	-	-	rs146385354	-	0.000399361	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	Cerebral ataxia, autosomal dominant	ICGC,
chr1	20998467	20998467	G	A	exonic	KIF17	nonsynonymous	SNV	0.001	1.0	4.063e-06	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	behavior/neurological phenotype	Schizophrenia   	ICGC,
chr1	163172734	163172734	T	C	ncRNA_intronic	LOC101928404	unknown	SNV	-	-	-	3.231e-05	rs568289250	-	0.000199681	-	-	-	-	LAML-KR|1|205|0.00488	-	-	-	-	ICGC,
chr2	117978941	117978941	T	C	intergenic	DPP10,DDX18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LAML-KR|1|205|0.00488	-	-	-,-	Autism spectrum disorder,-	ICGC,
chr5	112591130	112591130	C	T	intronic	MCC	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15958625	-	PACA-CA|1|268|0.00373	-	-	normal phenotype	-	COSMIC,COSMIC,ICGC,
chr8	83406020	83406020	A	C	intergenic	SNX16,LINC01419	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|2|301|0.00664	-	-	-,-	-,-	ICGC,
chr16	59795834	59795834	C	G	intergenic	APOOP5,LOC101927580	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21519031	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr8	83714380	83714380	A	C	intergenic	SNX16,LINC01419	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN14982309	-	ESAD-UK|2|301|0.00664	-	-	-,-	-,-	COSMIC,ICGC,
chr6	124279639	124279639	G	T	intronic	NKAIN2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-	Developmental delay and recurrent infection|Various neurological abnormalities	ICGC,
chr22	34797318	34797318	C	T	intergenic	LARGE,ISX	unknown	SNV	-	-	-	6.555e-05	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,no phenotypic analysis	Alpha-dystroglycanopathy |Autism, non-complex|Fukushima congenital muscular dystrophy|Muscular dystrophy, congenital 1D|Walker-Warburg syndrome|Walker-Warburg syndrome.,-	ICGC,
chr6	165294983	165294983	T	G	intergenic	QKI,C6orf118	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	6q terminal deletion syndrome,-	ICGC,
chr1	193868714	193868714	T	C	intergenic	CDC73,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	integument phenotype,-	Potential protein deficiency|Parathyroid carcinoma/adenoma|Parathyroid carcinoma.|Parathyroid carcinoma|Parathyroid cancer|Parathyroid adenoma.|Parathyroid adenoma |Hyperparathyroidism, primary.|Hyperparathyroidism, primary|Hyperparathyroidism, isolated|Hyperparathyroidism-jaw tumour syndrome.|Hyperparathyroidism-jaw tumour syndrome,-	ICGC,
chr22	32351544	32351544	C	T	intronic	YWHAH	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr6	17138815	17138815	C	T	intergenic	STMND1,RBM24	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7788463	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	COSMIC,ICGC,
chr6	168112693	168112693	C	G	intergenic	LOC441178,C6orf123	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr1	8702268	8702268	C	A	intronic	RERE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	mortality/aging	Autism	ICGC,
chr5	112654098	112654098	G	A	intronic	MCC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397,MELA-AU|1|183|0.00546	-	-	normal phenotype	-	ICGC,
chr7	70271949	70271949	G	A	intergenic	AUTS2,WBSCR17	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25977621	-	ESAD-UK|1|301|0.00332	-	-	-,-	Speech & language disorder, tonic-clonic movements & pes planus|Myoclonic epilepsy, juvenile |Mental retardation|Intellectual disability, syndromic  |Epilepsy, nonlesional |Developmental delay, intellectual disability, short stature, ptosis & dysmorphism|Developmental delay  |Autism spectrum disorder  |Autism,-	COSMIC,ICGC,
chr5	27208370	27208370	A	G	intergenic	CDH9,LINC01021	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24250285	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	-,-	-,-	COSMIC,COSMIC,ICGC,
chr3	87696849	87696849	C	T	intergenic	POU1F1,HTR1F	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,integument phenotype	Mental retardation, in women, association with|Pituitary hormone deficiencies, multiple|Pituitary hormone deficiency,-	ICGC,
chr19	19478314	19478314	C	T	intergenic	MAU2,GATAD2A	unknown	SNV	-	-	-	6.487e-05	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,mortality/aging	-,-	ICGC,
chr6	38029146	38029146	A	T	intronic	ZFAND3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9782093	-	OV-AU|1|93|0.01075	-	-	-	Diabetes, type 2, association with	COSMIC,ICGC,
chr11	28888189	28888189	G	A	intergenic	MIR8068,KCNA4	unknown	SNV	-	-	-	9.69e-05	rs756656878	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,behavior/neurological phenotype	-,-	ICGC,
chr18	66184027	66184027	C	A	intergenic	LOC643542,TMX3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24503614	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	COSMIC,ICGC,
chr5	26377575	26377575	C	T	intergenic	LOC340107,CDH9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chrX	36194381	36194381	C	T	intergenic	CHDC2,CXorf30	unknown	SNV	-	-	-	4.607e-05	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	ICGC,
chr8	114614285	114614285	C	T	intergenic	CSMD3,TRPS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	Schizophrenia  |Colorectal cancer ,Tricho-rhino-phalangeal syndrome with supernumerary teeth|Tricho-rhino-phalangeal syndrome III|Tricho-rhino-phalangeal syndrome I|Tricho-rhino-phalangeal syndrome|Infantile scoliosis & developmental delay|Femoral neck width, association with|Ambras syndrome	ICGC,
chr21	38953088	38953088	T	C	intergenic	DYRK1A,KCNJ6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,mortality/aging	Retinal alterations in Down syndrome|Psychomotor delay & behavioural problems|Microcephaly and developmental delay  |Microcephaly|Mental retardation & primary microcephaly|Intellectual disability, microcephaly, delayed language & seizures|Intellectual disability, microcephaly & epilepsy|Facial gestalt of Down syndrome|Dysmorphic features, intellectual disability and generalized epilepsy|Autism,Increased opioid requirements, association with|Increased postoperative analgesic requirements, association with	ICGC,
chr2	236001456	236001456	G	A	intergenic	SH3BP4,AGAP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-,-	Peripheral neuropathy  ,-	ICGC,
chr2	126440820	126440820	G	A	intergenic	CNTNAP5,GYPC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Autism,Glycophorin C variant|Gerbich-negative blood group|Elliptocytosis|Duch blood group	ICGC,
chr17	30128949	30128949	A	G	intergenic	MIR365B,COPRS	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26336181	-	PRAD-UK|1|140|0.00714	-	-	-,-	-,-	COSMIC,ICGC,
chr6	62710118	62710118	A	T	intronic	KHDRBS2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr21	23487164	23487164	T	G	ncRNA_exonic	LINC00308	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23019470	-	-	-	-	-	-	COSMIC,
chr20	10367179	10367179	C	T	intergenic	SNAP25,MKKS	unknown	SNV	-	-	-	0.0003	rs549570136	-	0.000399361	-	-	-	-	CMDI-UK|1|136|0.00735	-	-	integument phenotype,mortality/aging	Attention deficit hyperactivity disorder,Phenotype modifier |Obesity, association with|McKusick-Kaufman syndrome|Bardet-Biedl syndrome	ICGC,
chr6	68086936	68086936	T	G	intergenic	SLC25A51P1,BAI3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	ICGC,
chr1	214898540	214898540	G	T	intergenic	CENPF,KCNK2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26417636	-	PRAD-UK|1|140|0.00714	-	-	-,mortality/aging	-,-	COSMIC,ICGC,
chr1	198702816	198702816	T	C	intronic	PTPRC	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19254672	-	CLLE-ES|1|510|0.00196	-	-	mortality/aging	Variant CD45 expression|Multiple sclerosis|Immunodeficiency, severe combined|Hepatitis C, protection against, association with.|Defective splicing|Altered immune function	COSMIC,ICGC,
chr7	46482043	46482043	A	G	intergenic	IGFBP3,TNS3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	behavior/neurological phenotype,mortality/aging	Prostate cancer, increased risk|Plasma IGFBP-3 levels, association with|Pancreatic cancer, clinical outcome, association with|Lung cancer, increased risk, association with|Increased IGFBP-3 levels, association with|IGFBP-3 levels|Higher promoter activity, association with|Drug response, association with|Decreased IGFBP-3 levels, association with|Colorectal cancer, association with,Renal agenesis, pulmonary infections & growth/developmental delay	ICGC,
chr5	51116868	51116868	A	T	intergenic	ISL1,PELO	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	OV-AU|1|93|0.01075	-	-	integument phenotype,mortality/aging	Cardiomyopathy, dilated|Diabetes, type 2|Intellectual and developmental disabilities,-	ICGC,
chr21	15576007	15576007	G	T	intronic	LIPI	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26064525	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype	Plasma HDL cholesterol, association with|Plasma HDL cholesterol|Hypertriglyceridaemia	COSMIC,ICGC,
chr12	103278008	103278008	G	A	intronic	PAH	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN4726386	-	MALY-DE|1|241|0.00415	-	-	integument phenotype	Schizophrenia, association with  |Schizophrenia|Schizoaffective disorder|Phenylketonuria.|Phenylketonuria|Increased activity |Hyperphenylalaninaemia, mild|Hyperphenylalaninaemia	COSMIC,ICGC,
chr6	18517046	18517046	C	T	intergenic	RNF144B,MIR548A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BOCA-UK|1|130|0.00769	-	-	-,-	-,-	ICGC,
chr10	26453227	26453227	G	T	intronic	MYO3A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9202733	-	OV-AU|1|93|0.01075	-	-	hearing/vestibular/ear phenotype	Deafness|Hearing loss, non-syndromic	COSMIC,ICGC,
chr6	91462944	91462944	C	T	intergenic	MAP3K7,MIR4643	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21631635	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging,-	-,-	COSMIC,ICGC,
chr5	151502657	151502657	G	C	ncRNA_intronic	CTB-12O2.1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-	-	ICGC,
chr2	189201871	189201871	A	C	intronic	GULP1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20321525	-	PAEN-AU|1|52|0.01923	-	-	-	-	COSMIC,ICGC,
chr14	83012550	83012550	G	A	intergenic	LOC101928559,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chrX	28571928	28571928	C	A	intergenic	MIR6134,IL1RAPL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,nervous system phenotype	-,Mental retardation, X-linked|Mental retardation with dysmorphic features|Mental retardation and autism|Intellectual disability, X-linked with dysmorphism|Intellectual disability, X-linked|Intellectual disability, dysmorphic signs, deafness & behavioural problems|Intellectual disability & behavioural problems|Developmental delay, learning disability & microcephaly|Autism spectrum disorder  |Asperger syndrome	ICGC,
chr4	60038709	60038709	G	A	intergenic	IGFBP7-AS1,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr9	105120823	105120823	A	G	intergenic	GRIN3A,LINC00587	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	vision/eye phenotype,-	Schizophrenia, increased risk |Schizophrenia |Potential protein deficiency,-	ICGC,
chr1	177775162	177775162	C	T	intergenic	LOC101928778,SEC16B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN18863811	-	-	-	-	-,homeostasis/metabolism phenotype	-,-	COSMIC,
chr8	40602935	40602935	CC	TT	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr14	19855260	19855260	C	A	intergenic	DUXAP10,LINC01296	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19628770	-	LAML-KR|2|205|0.00976	-	-	-,-	-,-	COSMIC,COSMIC,ICGC,
chr20	24120661	24120661	G	C	intergenic	GGTLC1,FLJ33581	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr20	11742372	11742372	C	T	intergenic	LOC339593,LINC00687	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr8	69264926	69264926	T	A	intronic	C8orf34	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr2	142006987	142006987	G	A	intronic	LRP1B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging	Schizophrenia   	ICGC,
chr3	142846119	142846119	A	G	intergenic	CHST2,SLC9A9	unknown	SNV	-	-	-	0.3813	rs56367421	-	0.360224	-	0.464	-	-	LAML-KR|1|205|0.00488	-	-	immune system phenotype,-	-,Attention deficit hyperactivity disorder|Autism |Autism spectrum disorder  	ICGC,
chr11	27169198	27169198	A	-	intergenic	BBOX1,CCDC34	unknown	deletion	-	-	-	0.0054	rs375050445	-	-	-	-	COSN23104606	-	-	-	-	-,-	-,-	COSMIC,
chr9	137293577	137293577	C	T	exonic	RXRA	nonsynonymous	SNV	0.045	0.089	-	-	-	-	-	-	-	COSM3655419	SKCM|1|368|0.00272	SKCM-US|1|335|0.00299	-	-	integument phenotype	-	COSMIC,TCGA,ICGC,
chr4	140530127	140530127	-	TGTGTG	intergenic	SETD7,MGST2	unknown	insertion	-	-	-	0.0227	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	-,Potential protein deficiency|Psoriasis vulgaris	ICGC,
chr7	106477693	106477693	T	A	intergenic	CCDC71L,PIK3CG	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,integument phenotype	-,Altered platelet volume|Chronic infection and pelvic pain	ICGC,
chr7	67707461	67707461	-	TC	intergenic	LOC102723427,LOC100507468	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr5	89000666	89000666	C	T	intergenic	MEF2C-AS1,MIR3660	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	ICGC,
chr3	67916062	67916062	G	A	ncRNA_intronic	SUCLG2-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr2	218357007	218357007	G	A	ncRNA_intronic	DIRC3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Renal cell cancer	ICGC,
chr18	45750681	45750681	G	A	intergenic	ZBTB7C,CTIF	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	cellular phenotype,-	-,-	ICGC,
chr14	85782479	85782479	T	C	intergenic	NONE,LINC00911	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25945228	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,COSMIC,COSMIC,ICGC,
chr1	193356714	193356742	AGTCTCTGTTAATCAATTCTCTATTAAAC	-	intergenic	CDC73,NONE	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Potential protein deficiency|Parathyroid carcinoma/adenoma|Parathyroid carcinoma.|Parathyroid carcinoma|Parathyroid cancer|Parathyroid adenoma.|Parathyroid adenoma |Hyperparathyroidism, primary.|Hyperparathyroidism, primary|Hyperparathyroidism, isolated|Hyperparathyroidism-jaw tumour syndrome.|Hyperparathyroidism-jaw tumour syndrome,-	ICGC,
chr6	35644367	35644367	C	T	intronic	FKBP5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	mortality/aging	Accelerated response to antidepressants, association with|Harm avoidance & cooperativeness, association with	ICGC,
chr2	236895763	236895763	-	ATATTTAT	intronic	AGAP1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	-	ICGC,
chrX	56900280	56900280	C	A	intergenic	LINC01420,SPIN3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9492976	-	OV-AU|1|93|0.01075	-	-	-,-	-,-	COSMIC,ICGC,
chr2	183453247	183453247	C	T	intergenic	PDE1A,DNAJC10	unknown	SNV	-	-	-	3.228e-05	-	-	-	-	-	COSN22528336	-	BRCA-EU|1|569|0.00176	-	-	-,reproductive system phenotype	Cardiovascular malformations,-	COSMIC,ICGC,
chr4	96633661	96633661	G	A	intergenic	UNC5C,PDHA2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Colorectal cancer  |Reduced proapoptotic activity,-	ICGC,
chr11	56410605	56410605	G	A	upstream	OR5AP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr13	104433799	104433799	A	G	intergenic	MIR548AS,DAOA-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	154901167	154901167	C	T	intergenic	SFRP2,DCHS2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	-,Schizophrenia	ICGC,
chr13	108610268	108610268	C	T	intergenic	FAM155A,LIG4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Reduced risk of multiple myeloma, association|Radiation pneumonitis, association with|Potential protein deficiency|ncreased genotoxicity, in lead exposure, association with.|Lung cancer, increased risk, association with |LIG4 syndrome|LIG4 deficiency with dysmaturity, primordial dwarfism and neurological abnormalities|Immunodeficiency, severe combined, atypical|Immunodeficiency, severe combined|Glioma, increased risk, association with|Dubowitz syndrome	ICGC,
chr8	94114107	94114107	T	-	intergenic	MIR8084,C8orf87	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	-,-	ICGC,
chr2	81160411	81160411	C	T	intergenic	CTNNA2,LOC100507201	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,-	Schizophrenia,-	ICGC,
chr19	31679395	31679395	C	G	intergenic	ZNF536,TSHZ3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,integument phenotype	Schizophrenia,-	ICGC,
chr5	119496820	119496820	T	C	intergenic	FAM170A,PRR16	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr3	132513474	132513474	G	A	ncRNA_intronic	NPHP3-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr4	63343200	63343200	C	A	intergenic	LPHN3-AS1,TECRL	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9794171	-	RECA-EU|1|422|0.00237	-	-	-,-	-,-	COSMIC,ICGC,
chr8	91122761	91122761	T	C	intergenic	CALB1,LINC00534	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,-	-,-	ICGC,
chr17	40207762	40207762	T	G	intergenic	ZNF385C,DHX58	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6104070	-	LIRI-JP|1|258|0.00388	-	-	-,mortality/aging	-,-	COSMIC,ICGC,
chr5	29326807	29326807	T	C	intergenic	LOC101929645,LOC101929681	unknown	SNV	-	-	-	0.0001	rs144371015	-	0.000199681	-	-	COSN2100513	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr5	177677712	177677755	GGTGGTTCACACCTGTAATCCCAGCACTCTGGGAGGCTGAGGTG	-	intronic	COL23A1	unknown	deletion	-	-	-	0.3387	rs137888062	-	0.293331	-	-	-	-	ESAD-UK|1|301|0.00332,PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr9	95652535	95652535	G	A	downstream	LOC642943	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr15	53952342	53952342	G	A	intronic	WDR72	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	Amelogenesis imperfecta|Hypomaturation amelogenesis imperfecta	ICGC,
chr4	53033586	53033586	A	C	intergenic	SPATA18,USP46	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,behavior/neurological phenotype	-,Autism 	ICGC,
chr4	11382477	11382477	C	A	intergenic	MIR572,HS3ST1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,mortality/aging	-,-	ICGC,
chr2	199351434	199351434	G	T	intergenic	LOC101927619,SATB2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,mortality/aging	-,Toriello-Carey syndrome|Pierre Robin sequence  |Intellectual disability, nonsyndromic|Dentofacial abnormalities|Cleft palate, osteoporosis and cognitive defects|Cleft palate|Autism spectrum disorder	ICGC,
chr1	216334882	216334882	C	T	intronic	USH2A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	vision/eye phenotype	Retinitis pigmentosa?|Retinitis pigmentosa.|Sensorineural hearing loss, nonsyndromic  |Usher syndrome  |Usher syndrome 1  |Usher syndrome 2|Usher syndrome 2a|Usher syndrome 3 |Retinitis pigmentosa, recessive, no hearing loss|Retinitis pigmentosa, autosomal recessive.|Retinitis pigmentosa, autosomal recessive |Retinitis pigmentosa|Retinal degeneration|Hearing loss, early-childhood|Deafness, non-syndromic |Deafness  |Autism spectrum disorder|Autism	ICGC,
chr8	53698010	53698010	G	A	intergenic	RB1CC1,NPBWR1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,behavior/neurological phenotype	Schizophrenia |Lung cancer|Leukemia, risk, association with|Increased promoter activity|Decreased promoter activity,Altered receptor function	ICGC,
chr1	45266717	45266717	G	C	exonic	PLK3	nonsynonymous	SNV	0.0	1.0	-	-	-	-	-	-	-	COSM3790071	BLCA|1|396|0.00253	BLCA-US|1|133|0.00752	-	-	mortality/aging	-	COSMIC,TCGA,ICGC,
chr4	136793734	136793734	G	T	ncRNA_intronic	LINC00613	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20558306	-	COCA-CN|1|321|0.00312	-	-	-	-	COSMIC,ICGC,
chr8	136999974	136999974	A	-	intergenic	KHDRBS3,NONE	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	ICGC,
chr16	88691554	88691554	C	T	intronic	ZC3H18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr6	141430623	141430623	T	C	intergenic	MIR4465,NMBR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,behavior/neurological phenotype	-,-	ICGC,
chr5	75149669	75149669	-	T	intergenic	POC5,SV2C	unknown	insertion	-	-	-	3.332e-05	-	-	-	-	0.007	-	-	PRAD-UK|1|140|0.00714	-	-	-,-	-,-	ICGC,
chr5	41071684	41071684	G	A	upstream	MROH2B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr20	24758674	24758674	G	A	intergenic	SYNDIG1,CST7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,normal phenotype	-,-	ICGC,
chr6	145252779	145252779	T	C	intergenic	UTRN,EPM2A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,mortality/aging	Arthrogryposis |Schizophrenia,Myoclonic epilepsy of Lafora|Epilepsy, progressive myoclonus	ICGC,
chr5	20192337	20192337	A	C	intronic	CDH18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	Anorectal malformation	ICGC,
chr8	21168102	21168102	T	C	intergenic	LOC101929172,GFRA2	unknown	SNV	-	-	-	0	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,-	ICGC,
chr2	202608668	202608668	G	A	intronic	ALS2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Spastic paraplegia, infantile-onset|Spastic paraplegia  |Spastic paralysis, infantile-onset|Primary lateral sclerosis, juvenile|Infantile ascending hereditary spastic paralysis|Amyotrophic lateral sclerosis	ICGC,
chr4	86930116	86930116	T	C	intergenic	ARHGAP24,MAPK10	unknown	SNV	-	-	-	0.7022	rs35158998	-	0.672923	-	0.725	-	-	LAML-KR|1|205|0.00488	-	-	-,behavior/neurological phenotype	Autism spectrum disorder|Focal segmental glomerulosclerosis ,Epileptic encephalopathy|Hirschsprung disease, modifier of|Intellectual disability  |Tricuspid atresia	ICGC,
chr10	124897274	124897274	G	T	downstream	HMX3	unknown	SNV	-	-	0	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	mortality/aging	-	ICGC,
chr3	98278598	98278598	C	A	intergenic	GPR15,CPOX	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	no phenotypic analysis,-	-,Harderoporphyria|Coproporphyria|Atypical porphyrinogenic response to mercury, association with	ICGC,
chr12	119409678	119409678	A	T	intergenic	SUDS3,SRRM4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	-,-	ICGC,
chr1	223842087	223842087	G	A	exonic	CAPN8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	digestive/alimentary phenotype	-	ICGC,
chr6	65869648	65869648	C	G	intronic	EYS	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16508717	-	PACA-AU|1|391|0.00256	-	-	-	Cone-rod dystrophy, autosomal recessive.|Leber congenital amaurosis|Retinitis pigmentosa|Retinitis pigmentosa, autosomal recessive |Retinitis pigmentosa, autosomal recessive/Leber congenital amaurosis	COSMIC,ICGC,
chr13	48372356	48372356	G	A	intergenic	HTR2A,SUCLA2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	skeleton phenotype,-	Bipolar I disorder, association with|Consolidation of episodic memory, association|Diminished hippocampal novelty processing, association with|Reduced sensitivity to clozapine, association with|Schizophrenia|Schizophrenia, association with|Suicidal behavior, association with|Systemic sclerosis, association with|Autism, association with|Attention deficit hyperactivity disorder, association with.|Affinity for and potency of atypical antipsychotic drugs, association|Age of onset, in temporal lobe epilepsy, association with.|Alcohol dependence and addiction, association with|Altered affinity for atypical antipsychotic drugs|Altered mRNA expression|Altered potency of atypical antipsychotic drugs|Altered splicing  |Anorexia nervosa, association with,Autism|Encephalomyopathic mitochondrial DNA depletion & methylmalonic aciduria|Encephalomyopathy & mitochondrial DNA depletion|Muscle hypotonia, dystonia, failure to thrive, sensorineural deafness, and dysmorphism|Schizophrenia  	ICGC,
chr12	132995437	132995437	-	CAAG	intergenic	LOC101928416,FBRSL1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr9	82420026	82420026	T	G	intergenic	TLE4,LOC101927477	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr18	52585100	52585100	-	AC	intronic	CCDC68	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|5|67|0.07463	-	-	-	-	ICGC,
chr11	102836959	102836959	A	G	intergenic	MMP13,DCUN1D5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200,MALY-DE|1|241|0.00415	-	-	integument phenotype,-	Endometriosis progression, association with|Increased transcriptional activity|Metaphyseal anadysplasia|Metaphyseal dysplasia, Spahr type|Spondyloepimetaphyseal dysplasia, Missouri type,-	ICGC,
chr7	146345646	146345646	A	C	intronic	CNTNAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype	Gilles de la Tourette syndrome|Intellectual disability  |Learning disability & speech problems|Mental retardation |Mental retardation, Pitt-Hopkins-like|Multiple congenital anomalies  |Seizures, neonatal |Speech delay  |Stuttering |Epileptic encephalopathy  |Epilepsy and schizophrenia|Autism|Autism spectrum disorder |Autism spectrum disorder, modifier of|Childhood apraxia of speech|Cortical dysplasia-focal epilepsy syndrome|Developmental and/or speech and/or behavioural problems|Developmental delay  |Developmental delay & dysmorphic features|Dyslexia 	ICGC,
chr11	65687059	65687059	G	T	intronic	DRAP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	mortality/aging	-	ICGC,
chr16	29083517	29083517	T	-	intergenic	LAT,RRN3P2	unknown	deletion	-	-	-	-	-	-	-	-	0.007	-	-	LMS-FR|1|67|0.01493	-	-	mortality/aging,-	-,-	ICGC,
chr15	88611587	88611587	G	A	intronic	NTRK3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8178101	-	PACA-CA|2|268|0.00746	-	-	mortality/aging	Panic disorder, association with|Obsessive-compulsive disorder, association with|Autism spectrum disorder	COSMIC,COSMIC,ICGC,
chr5	24072786	24072786	G	T	intergenic	PRDM9,CDH10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	reproductive system phenotype,-	Altered meiotic recombination hotspot usage|Azoospermia by meiotic arrest, association with |Azoospermia, non-obstructive ,-	ICGC,
chr1	62199258	62199258	C	T	intergenic	TM2D1,INADL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Weight variance, association with	ICGC,
chr1	86979580	86979580	G	A	intergenic	CLCA1,CLCA4	unknown	SNV	-	-	-	9.692e-05	rs533849445	-	0.000199681	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-,-	Cystic fibrosis, modifier of,-	ICGC,
chr6	89304116	89304116	G	A	intergenic	LOC101928936,RNGTT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr13	55454587	55454587	G	A	intergenic	MIR1297,MIR5007	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr6	120165821	120165821	G	T	intergenic	LOC285762,TBC1D32	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20861545	-	BRCA-UK|1|141|0.00709,BRCA-EU|1|569|0.00176,OV-AU|1|93|0.01075	-	-	-,-	-,Oro-facio-digital syndrome type IX	COSMIC,COSMIC,ICGC,
chr3	71154117	71154117	-	A	intronic	FOXP1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging	Speech delay, contractures, hypertonia & blepharophimosis|Mental retardation, speech and language deficits|Intellectual disability & autism|Intellectual disability|Delayed speech/motor development & Chiari I malformation|Congenital heart defects|Childhood apraxia of speech|Autism, speech delay and deficit of motor coordination|Autism spectrum disorder  	ICGC,
chr8	77077977	77077977	C	A	intergenic	HNF4G,LINC01111	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25776388	-	EOPC-DE|1|202|0.00495	-	-	respiratory system phenotype,-	-,-	COSMIC,ICGC,
chr8	133166755	133166755	C	T	intronic	KCNQ3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging	Seizures, benign infantile|Intellectual disability, nonsyndromic|Epilepsy, rolandic without neonatal seizures|Epilepsy, rolandic & benign neonatal convulsions|Epilepsy, idiopathic  |Epilepsy, benign neonatal|Benign familial neonatal convulsions	ICGC,
chr10	56287068	56287068	C	A	intronic	PCDH15	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	vision/eye phenotype	Usher syndrome II|Usher syndrome 1f|Usher syndrome 1|Lipid levels in hyperlipidaemia, association with|Hearing loss, non-syndromic|Deafness, non-syndromic, autosomal recessive|Deafness, non-syndromic |Deafness  	ICGC,
chr9	121372931	121372931	T	G	intergenic	TLR4,BRINP1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26014405	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,-	Phenotypic variation in haemochromatosis, association with|Periodontitis, association with|Pancreatic necrotic infection, association with|Negative association with FMF|Nasopharyngeal cancer, increased risk, association with|Moraxella catarrhalis infection, increased risk, association with|Metabolic syndrome, association with|Meningococcal disease susceptibility|Meningococcal disease mortality|Lung function, association with|Lower left ventricular mass, in hypertensive women, association|Increased risk of cirrhosis in chronic hepatitis C ?|Increased liver and body fat, association with|Potential protein deficiency|Preterm birth and premature rupture of membranes, association with|Tuberculosis susceptibility, in HIV-infected patients, association|Serious infection, in HIV-1 patients, association with|Retinitis pigmentosa |Reduced LPS-induced IL-12 secretion, association with|Reduced expression|Pulmonary tuberculosis, susceptibility and severity, association|Pulmonary tuberculosis, severity, association with|Protection from urinary tract infection, association with|Protection against being overweight|Prostate cancer, increased risk|Prostate cancer risk, association with|Primary open-angle, normal-tension, and exfoliation glaucoma, association with.|Typhoid infection, increased risk, association with|Increased IL-4 secretion response to measles vaccination, association|Cutaneous leishmaniasis, association with|Crohn's disease, association with|Colorectal cancer, association with.|Colorectal cancer risk, association with|Cervical cancer, early stage, association with|Cancer, increased risk, association with|Bronchopulmonary Dysplasia, infant, association with|Breast cancer, association with.|Behcet disease, protection against, association with|Altered monocyte receptor levels|Acute pyelonephritis, reduced risk in adults, association with|Acute pyelonephritis, in children, association with|Diabetes, type 2, protection against, association with|Digestive system cancer, increased risk & prostate cancer, protection against, association with|Emphysema, association with|Increased expression|Helicobacter pylori-related gastric atrophy, association with|HBV recurrence after liver transplantation, association with|Guillain-Barré syndrome, association with|Guillain-Barré syndrome, AMAN sub-type, association with|Gastritis, association with|Gastric carcinoma, association with|Endometriosis, association with|Endotoxin hyporesponsiveness, association with|Extra-intestinal manifestations in Crohn's disease, association with.|Gastric adenocarcinoma, association with|Gastric cancer, association with,-	COSMIC,COSMIC,ICGC,
chr6	90363947	90363947	G	A	exonic	MDN1	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM4468700	-	-	-	-	mortality/aging	Autism	COSMIC,
chr12	107988219	107988219	T	C	intronic	BTBD11	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25704679	-	EOPC-DE|1|202|0.00495	-	-	-	-	COSMIC,ICGC,
chr4	64081685	64081685	G	C	intergenic	LPHN3-AS1,TECRL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr13	58359910	58359910	A	T	intergenic	PCDH17,LOC101926897	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	125242280	125242280	T	A	intronic	CNTNAP5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23783011	-	ORCA-IN|1|178|0.00562	-	-	-	Autism	COSMIC,ICGC,
chr13	22534121	22534121	G	A	intergenic	LINC00424,LINC00540	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr18	67007263	67007263	G	A	intergenic	CCDC102B,DOK6	unknown	SNV	-	-	-	-	rs532367310	-	0.000199681	-	-	COSN24026419	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	-,-	-,-	COSMIC,COSMIC,ICGC,
chr3	114653991	114653991	C	A	intronic	ZBTB20	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Autism spectrum disorder|Hypotonia and language and motor delays	ICGC,
chr7	49741004	49741004	-	GGAGGAGGAC	intergenic	CDC14C,VWC2	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN24327151	-	-	-	-	-,-	-,-	COSMIC,
chrX	99402008	99402008	G	A	intergenic	XRCC6P5,PCDH19	unknown	SNV	-	-	-	4.631e-05	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,Tonic seizures|Seizures|Generalized tonic-clonic seizures|Focal seizures with secondary generalization|Focal epilepsy|Epileptic encephalopathy|Epilepsy, early-onset|Epilepsy and mental retardation limited to females|Epilepsy & mental retardation|Dravet syndrome  |Asperger syndrome	ICGC,
chr9	136364483	136364483	G	A	intergenic	SLC2A6,TMEM8C	unknown	SNV	-	-	-	0.0041	rs587746852	-	0.000199681	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr8	65933583	65933583	C	T	intergenic	CYP7B1,LINC00251	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Spastic paraplegia 5a.|Spastic paraplegia 5a|Spastic paraplegia 5 with sensory ataxia|Spastic paraplegia 5|Spastic paraplegia|Increased transcriptional activity|HIV 1 infection, reduced risk, association with|Cholestasis, severe,-	ICGC,
chr16	18666126	18666126	G	A	intergenic	ABCC6P1,RPS15A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr6	82554190	82554190	G	A	intergenic	FAM46A,IBTK	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,hematopoietic system phenotype	Tuberculosis, susceptibility to ,-	ICGC,
chr11	66480220	66480220	G	A	intronic	SPTBN2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21331625	-	BRCA-UK|1|141|0.00709,BRCA-EU|1|569|0.00176	-	-	behavior/neurological phenotype	Spinocerebellar ataxia type 1, spectrin-associated|Spinocerebellar ataxia type 5|Spinocerebellar ataxia, infantile-onset, autosomal recessive	COSMIC,ICGC,
chr11	58895747	58895747	T	G	downstream	FAM111B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	Autism spectrum disorder|Fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis 	ICGC,
chr3	181944223	181944223	A	C	intergenic	LINC01206,FLJ46066	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15239184	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr20	35176424	35176424	A	C	ncRNA_intronic	LOC101926987	unknown	SNV	-	-	0.0029	-	rs755076025	0.0017	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr17	26714675	26714675	C	T	intronic	SARM1	unknown	SNV	-	-	-	3.228e-05	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	immune system phenotype	-	ICGC,
chr12	220890	220890	C	T	intronic	IQSEC3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	Schizophrenia	ICGC,
chr10	54733506	54733506	A	C	intergenic	MBL2,PCDH15	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17886316	-	ESAD-UK|1|301|0.00332	-	-	hematopoietic system phenotype,vision/eye phenotype	Leprosy, association with|Lung cancer survival, association with|Mannose-binding protein deficiency, association|Placental malaria, susceptibility to, association with|Systemic lupus erythematosus, association with|Tuberculosis, protection against, association with|Type 2 diabetes, association with|Ulcerative colitis, association with.|Vulvovaginal candidiasis, recurrent, association with|Lepromatous leprosy, protection against, association with|Kawasaki disease, association with|Antiphospholipid syndrome, association with|Bacterial infection, increased risk, association with|Colon cancer, association with|Crohn's disease, in children, association with|Dental caries, association with.|HIV-1 infection, increased susceptibility, association with|HIV-1 infection, susceptibility, association|Increased serum MBL level |Infection, in children, association with.,Usher syndrome II|Usher syndrome 1f|Usher syndrome 1|Lipid levels in hyperlipidaemia, association with|Hearing loss, non-syndromic|Deafness, non-syndromic, autosomal recessive|Deafness, non-syndromic |Deafness  	COSMIC,ICGC,
chr1	157326489	157326489	A	G	intergenic	ETV3,FCRL5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chrX	64136232	64136232	T	C	UTR3	ZC4H2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	Arthrogryposis multiplex congenita and intellectual disability	ICGC,
chr8	133453410	133453410	C	T	intronic	KCNQ3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Seizures, benign infantile|Intellectual disability, nonsyndromic|Epilepsy, rolandic without neonatal seizures|Epilepsy, rolandic & benign neonatal convulsions|Epilepsy, idiopathic  |Epilepsy, benign neonatal|Benign familial neonatal convulsions	ICGC,
chr6	48899598	48899598	G	A	intergenic	PTCHD4,MUT	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15833417	-	LIRI-JP|1|258|0.00388	-	-	-,mortality/aging	-,Methylmalonic aciduria	COSMIC,ICGC,
chr5	12676761	12676761	G	A	ncRNA_intronic	LINC01194	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr1	223841178	223841178	T	G	intronic	CAPN8	unknown	SNV	-	-	-	0.0006	-	-	-	-	-	COSN17934935	-	SKCA-BR|1|100|0.01000	-	-	digestive/alimentary phenotype	-	COSMIC,ICGC,
chr1	59245376	59245376	T	-	intergenic	MYSM1,JUN	unknown	deletion	-	-	-	0.0297	-	-	-	-	-	COSN27466918	-	BTCA-SG|8|71|0.11268	-	-	integument phenotype,integument phenotype	Anaemia, transfusion-dependent, thrombocytopaenia, and low NK- and B- cell counts,Colorectal cancer, increased risk, association with|Lung cancer, increased risk, association with	COSMIC,COSMIC,COSMIC,ICGC,
chr2	150017379	150017379	C	T	intronic	LYPD6B	unknown	SNV	-	-	2.686e-05	-	rs371973396	4.52e-05	-	8.7e-05	-	COSN24299470	-	-	-	-	-	-	COSMIC,
chr14	27288660	27288660	T	C	ncRNA_intronic	LOC101927062,LOC102724890	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr14	46247471	46247471	T	C	intergenic	MIS18BP1,LINC00871	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	ICGC,
chr1	78361883	78361883	-	ATAAATAAATAAATGA	intronic	NEXN	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	Atrial septal defect |Cardiomyopathy, dilated|Cardiomyopathy, hypertrophic	ICGC,
chr8	79150281	79150281	T	C	intergenic	PEX2,PKIA	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17326114	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,normal phenotype	Zellweger syndrome|Refsum disease, infantile|Peroxisome biogenesis disorder|Cerebellar ataxia, autosomal recessive,-	COSMIC,ICGC,
chr4	161826474	161826474	T	C	intergenic	RAPGEF2,FSTL5	unknown	SNV	-	-	-	-	rs527894812	-	0.000199681	-	-	COSN4829878	-	MALY-DE|1|241|0.00415	-	-	integument phenotype,-	-,Schizophrenia  |Rolandic epilepsy 	COSMIC,ICGC,
chr7	63901727	63901727	-	GATAGAT	intergenic	YWHAEP1,ZNF680	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr2	221720781	221720781	C	T	intergenic	MIR4268,EPHA4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,reproductive system phenotype	-,Amyotrophic lateral sclerosis, reduced disease severity	ICGC,
chr10	112541292	112541292	G	A	exonic	RBM20	nonsynonymous	SNV	0.0	0.487	8.056e-05	-	rs397516625	-	0.000199681	-	-	-	-	-	not_specified	-	-	Cardiomyopathy, dilated	ClinVar,
chr2	229353307	229353307	G	A	intergenic	SPHKAP,PID1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Anorectal malformation	ICGC,
chr16	35234325	35234325	A	T	intergenic	FLJ26245,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr9	132244231	132244231	G	C	intergenic	LOC100506119,LINC00963	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	-,-	-,-	ICGC,
chr11	66797585	66797585	C	T	intronic	SYT12	unknown	SNV	-	-	4.076e-06	-	rs773430427	8.249e-06	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	-	ICGC,
chrX	92362198	92362198	A	G	intergenic	PCDH11X,NAP1L3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN4981832	-	-	-	-	-,-	Absent speech, intellectual disability & behavioural problems|Attention deficit hyperactivity disorder & obsessive compulsive disorder|Developmental dyslexia |Language delay, nonsyndromic ,-	COSMIC,
chr7	124900105	124900105	G	A	ncRNA_intronic	LOC101928254,LOC101928283	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr1	191013094	191013094	T	A	intergenic	LOC440704,RGS18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,no phenotypic analysis	-,Potential protein deficiency	ICGC,
chr12	34819437	34819437	G	T	intergenic	ALG10,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr10	45732347	45732347	T	-	intergenic	ANKRD30BP3,OR13A1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	ICGC,
chr1	119065521	119065521	G	A	intergenic	SPAG17,TBX15	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	Autism,Cousin syndrome	ICGC,
chr3	30350781	30350781	A	C	intergenic	RBMS3,TGFBR2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17062446	-	-	-	-	-,mortality/aging	-,Loeys-Dietz syndrome|Loeys-Dietz syndrome, type II|Marfan syndrome II|Marfan syndrome, incomplete|Marfan-like syndrome|Microcephaly & developmental delay|Non-SGS marfanoid craniosynostosis|Potential protein deficiency|Shprintzen-Goldberg syndrome|Loeys-Dietz aortic aneurysm syndrome|Leprosy, association with|Iron overload disease, ferroportin-associated|Allergic disease, predisposition to|Aortic aneurysm |Aortic aneurysm, thoracic|Breast cancer, protection against, association with.|Cervical artery dissection, spontaneous|Colorectal cancer |Colorectal cancer, non-polyposis|Gastric cancer, reduced risk, association with|Giant cell carcinoma	COSMIC,
chr3	186978537	186978537	G	T	exonic	MASP1	nonsynonymous	SNV	0.006	1.0	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	mortality/aging	Haemolytic uraemic syndrome, atypical|Facial, umbilical, coccygeal & auditory anomalies|3MC syndrome	ICGC,
chr12	79736693	79736693	C	A	intronic	SYT1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19589711	-	-	-	-	mortality/aging	-	COSMIC,
chr14	65349489	65349489	T	A	intergenic	SPTB,CHURC1-FNTB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Spherocytosis|Spectrin variant|Hydrops fetalis|Elliptocytosis,-	ICGC,
chr8	88709378	88709378	G	A	intergenic	CNBD1,DCAF4L2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr17	12516335	12516335	C	T	ncRNA_intronic	LINC00670	unknown	SNV	-	-	-	9.687e-05	-	-	-	-	-	COSN7159997	-	SKCA-BR|1|100|0.01000,PACA-AU|1|391|0.00256,MELA-AU|1|183|0.00546	-	-	-	-	COSMIC,ICGC,
chr8	133088215	133088215	T	G	intronic	HHLA1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19671485	-	COCA-CN|1|321|0.00312	-	-	-	-	COSMIC,ICGC,
chr2	19075359	19075359	C	T	intergenic	NT5C1B-RDH14,MIR4757	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr3	196452422	196452422	C	T	intronic	PIGX	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr7	39509423	39509423	C	T	intergenic	POU6F2,YAE1D1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	normal phenotype,-	Wilms tumour ,Schizophrenia	ICGC,
chr15	76269037	76269037	CC	TT	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr12	81063255	81063255	-	G	intronic	PTPRQ	unknown	insertion	-	-	0.0029	0.0014	rs56788434	0.0052	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	behavior/neurological phenotype	Deafness, non-syndromic |Hearing loss  |Nonsyndromic hearing impairment DFNB84	ICGC,
chr14	34289681	34289681	G	A	intergenic	NPAS3,EGLN3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,integument phenotype	Mental illness|Schizophrenia,-	ICGC,
chr12	80413919	80413919	G	A	intergenic	PPP1R12A,OTOGL	unknown	SNV	-	-	-	0.7893	rs1245075	-	0.822085	-	0.841	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	-,Sensorineural hearing loss  |Deafness  |Autism spectrum disorder	ICGC,
chr13	110835030	110835030	G	A	intronic	COL4A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging	Porencephaly, intracerebral haemorrhage & white matter disease|Porencephaly, familial|Porencephaly, bilateral|Porencephaly and schizencephaly|Myocardial infarction, protection, association with|Porencephaly, prenatal|Porencephaly, unilateral|Post-ictal hemiparesis|Schizencephaly, bilateral|Schizencephaly, unilateral|Small vessel disease|Stroke, childhood-onset|Walker-Warburg syndrome|Muscle-eye-brain disease|Intraventricular haemorrhage|Acute urinary retention|Angiopathy, nephropathy, aneurysms & muscle cramps|Anterior segment dysgenesis|Arterial stiffness|Axenfeld-Rieger anomaly|Cardiac defects|Foetal intracerebral haemorrhage|Hemiplegia, infantile|Infantile spasms|Intracerebral haemorrhage|Intracerebral haemorrhage, foetal|Intracerebral haemorrhage, late-onset|Intracranial calcification	ICGC,
chr10	96026860	96026860	G	A	intronic	PLCE1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	cardiovascular system phenotype	Respiratory-chain complex IV (COX) deficiency|Oesophageal squamous cell carcinoma, reduced risk  |Oesophageal squamous cell carcinoma, association with|Nephrotic syndrome, steroid resistant?|Nephrotic syndrome 3, early onset|Nephrotic syndrome|Mesangial proliferation|Glomerulosclerosis, focal segmental|Gastric adenocarcinoma, increased risk|Gastric adenocarcinoma and oesophageal SCC, association with|Diffuse mesangial sclerosis	ICGC,
chr6	51144162	51144162	C	A	intergenic	TFAP2B,PKHD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	integument phenotype,mortality/aging	Patent ductus arteriosus|Nonsyndromic patent ductus arteriosus|Neonatal temperament, association with|Increased expression, association with|Female alcoholism, severe, association with|Endocardial cushion defect|Diabetes, type 2, asssociation with|Char syndrome|Cardiac defects,Renal cystic disease and hepatic fibrosis.|Protection against colorectal cancer|Polycystic kidney disease |Caroli disease	ICGC,
chr2	119278557	119278557	A	T	intergenic	INSIG2,LOC101927709	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26228454	-	PRAD-UK|1|140|0.00714	-	-	mortality/aging,-	Reduced BMI, association with|Obesity, association with,-	COSMIC,ICGC,
chr5	95158211	95158211	G	T	exonic	GLRX	nonsynonymous	SNV	0.777	0.001	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	vision/eye phenotype	-	ICGC,
chr10	50931327	50931327	A	G	intergenic	C10orf53,OGDHL	unknown	SNV	-	-	-	3.23e-05	-	-	-	-	-	COSN24698021	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	COSMIC,ICGC,
chr1	174956372	174956372	C	T	intronic	RABGAP1L	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	normal phenotype	-	ICGC,
chr9	29357848	29357848	G	C	intergenic	LINGO2,LINC01242	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9709082	-	OV-AU|1|93|0.01075	-	-	-,-	Autism spectrum disorder  |Developmental delay with absent speech,-	COSMIC,COSMIC,ICGC,
chr10	72728353	72728353	G	A	intergenic	PCBD1,UNC5B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,mortality/aging	Hyperphenylalaninaemia,-	ICGC,
chr5	30314769	30314769	T	C	intergenic	LOC101929681,CDH6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,renal/urinary system phenotype	-,-	ICGC,
chr19	51274067	51274067	C	A	exonic	GPR32	nonsynonymous	SNV	0.0	1.0	-	-	-	-	-	-	-	COSM1712647	-	-	-	-	-	-	COSMIC,
chr6	103150201	103150201	C	T	intergenic	GRIK2,HACE1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,tumorigenesis	Mental retardation, non-syndromic, autosomal recessive,Wilms tumour 	ICGC,
chr1	102394855	102394855	T	A	intronic	OLFM3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9358545	-	RECA-EU|1|422|0.00237	-	-	-	-	COSMIC,ICGC,
chr7	135963120	135963120	C	T	intergenic	LUZP6,CHRM2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	-,Reduced expression|Major depression in women, association with|Cardiomyopathy, dilated	ICGC,
chr3	116639524	116639524	C	T	upstream	LINC00901	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr2	158356542	158356542	C	T	intergenic	CYTIP,ACVR1C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype,mortality/aging	-,Glaucoma, primary congenital	ICGC,
chr4	157464384	157464384	C	T	intergenic	CTSO,PDGFC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,integument phenotype	-,Ovarian cancer, poor survival, association with|Cleft lip with or without cleft palate, association|Bilateral cleft lip & thumb polydactyly	ICGC,
chr6	28574879	28574879	G	A	intergenic	ZBED9,LOC401242	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20700854	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr14	56869319	56869319	G	A	intergenic	PELI2,TMEM260	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr2	3718758	3718758	C	T	exonic	ALLC	nonsynonymous	SNV	0.069	0.966	4.128e-06	-	rs753814303	1.065e-05	-	-	-	-	BLCA|1|396|0.00253	-	-	-	-	-	TCGA,
chr9	36744093	36744093	G	T	intergenic	MELK,MIR4475	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2323165	-	LIRI-JP|1|258|0.00388	-	-	-,-	Intellectual disability and dysmorphisms,-	COSMIC,ICGC,
chr9	104206358	104206358	C	G	intergenic	ALDOB,LOC101928470	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	Fructose intolerance,-	ICGC,
chr11	100659172	100659172	G	A	intronic	ARHGAP42	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN10076285	-	RECA-EU|1|422|0.00237	-	-	-	-	COSMIC,ICGC,
chr8	114577397	114577397	G	T	intergenic	CSMD3,TRPS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26606377	-	LICA-CN|1|402|0.00249	-	-	-,integument phenotype	Schizophrenia  |Colorectal cancer ,Tricho-rhino-phalangeal syndrome with supernumerary teeth|Tricho-rhino-phalangeal syndrome III|Tricho-rhino-phalangeal syndrome I|Tricho-rhino-phalangeal syndrome|Infantile scoliosis & developmental delay|Femoral neck width, association with|Ambras syndrome	COSMIC,ICGC,
chr1	116747472	116747472	C	T	intergenic	MAB21L3,ATP1A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,mortality/aging	-,-	ICGC,
chr6	96632509	96632509	G	A	intronic	FUT9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	normal phenotype	-	ICGC,
chr11	64296222	64296222	G	C	intergenic	LOC100996455,SLC22A11	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	RECA-EU|1|422|0.00237	-	-	-,-	-,Osteoporosis, association with	ICGC,
chr12	6463605	6463605	C	T	exonic	SCNN1A	stopgain	SNV	-	-	-	-	-	-	-	-	-	COSM3464201	SKCM|1|368|0.00272	SKCM-US|1|335|0.00299	-	-	mortality/aging	Pseudohypoaldosteronism 1|Ischemic cerebrovascular events, association with|Increased activity|Hypertension, reduced risk, association with|Cystic fibrosis, risk modifier |Cystic fibrosis, non-classic|Bronchiectasis	COSMIC,TCGA,ICGC,
chr16	26978145	26978145	C	T	intergenic	HS3ST4,C16orf82	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr19	37538545	37538545	G	A	intergenic	ZNF568,ZNF420	unknown	SNV	-	-	-	0.0002	rs771391673	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,Autism	ICGC,
chr11	114303330	114303330	C	A	intergenic	RBM7,REXO2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BOCA-FR|1|98|0.01020	-	-	-,-	-,-	ICGC,
chr4	81330331	81330331	G	A	intronic	C4orf22	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr4	157642582	157642582	C	T	intergenic	CTSO,PDGFC	unknown	SNV	-	-	-	0.0001	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Ovarian cancer, poor survival, association with|Cleft lip with or without cleft palate, association|Bilateral cleft lip & thumb polydactyly	ICGC,
chr20	4469702	4469702	G	A	intergenic	ADRA1D,PRNP	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,mortality/aging	-,Pan-autonomic failure, sensory neuropathy & cognitive impairment|Leg hyperreflexia in Gerstmann-Sträussler-Scheinker syndrome|Gerstmann-Sträussler-Scheinker syndrome.|Gerstmann-Sträussler-Scheinker syndrome and Creutzfeldt-Jakob disease, rapidly progressive.|Gerstmann-Sträussler-Scheinker syndrome  presenting as familial Creutzfeldt-Jakob disease|Gerstmann-Straeussler-Scheinker syndrome|Gerstmann-Straeussler syndrome, association with|Gerstmann-Straeussler syndrome|Parkinson disease  |Presenile dementia and hypokinetic syndrome|Wilson disease, neurological, modifier of|Spongiform encephalopathy, familial|Schizoaffective disorder|PrP cerebral amyloid angiopathy|Progressive ataxo-spastic syndrome with mild cognitive impairment|Prion disease, resistance to, association with|Prion disease|Primary dementia with prominent frontotemporal signs|Gastric cancer|Fatal insomnia|Creutzfeldt-Jakob syndrome|Creutzfeldt-Jakob disease, slowly progressive.|Creutzfeldt-Jakob disease, rapidly progressive.|Creutzfeldt-Jakob disease, rapidly progressive, and Creutzfeldt-Jakob disease, slowly progressive.|Creutzfeldt-Jakob disease risk, association with|Atypical parkinsonism.|Alzheimer disease risk|Alzheimer disease|Creutzfeldt-Jakob syndrome, protection, association with|Creutzfeldt-Jakob syndrome, sporadic, association|Fatal familial insomnia, association with|Fatal familial insomnia|Encephalopathy, familial|Diarrhoea, autonomic failure & neuropathy|Dementia, young-onset|Dementia, neurodegenerative|Dementia|Creutzfeldt-Jakob syndrome.	ICGC,
chrX	53524170	53524170	C	T	intergenic	HSD17B10,HUWE1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency|Epilepsy, choreoathetosis & mental retardation, X-linked|X-linked mental retardation,Schizophrenia|Mental retardation, X-linked |Intellectual disability, X-linked|Intellectual disability, nonsyndromic|Intellectual disability, growth retardation, minimal speech, rigid gait & behavioural problems|Congenital heart disease |Autism	ICGC,
chr3	88768378	88768378	A	G	intergenic	C3orf38,EPHA3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	CLLE-ES|1|510|0.00196	-	-	-,mortality/aging	-,Oligozoospermia|Schizophrenia    |Sertoli-cell-only syndrome	ICGC,
chr13	84852568	84852568	A	G	ncRNA_intronic	LINC00333	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr2	108728075	108728075	T	A	intergenic	SLC5A7,SULT1C3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	integument phenotype,-	Schizophrenia|Reduced transport rate|Hereditary motor neuropathy, type VII,Autism spectrum disorder	ICGC,
chr4	61027021	61027021	A	G	intergenic	NONE,LPHN3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LAML-KR|1|205|0.00488	-	-	-,behavior/neurological phenotype	-,-	ICGC,
chr14	71242040	71242040	G	A	intronic	MAP3K9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	-	ICGC,
chr16	6658960	6658960	C	T	intronic	RBFOX1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Muscular and feet abnormalities|Mental retardation|Epilepsy, rolandic  |Epilepsy|Developmental delay, facial dysmorphism  |Developmental delay and transposition of the great arteries|Developmental delay and diplegia|Developmental delay and craniosynostosis|Developmental delay  |Cardiac defects|Cardiac abnormalities, micrognathia and scoliosis|Autism spectrum disorder|Autism|Attention deficit hyperactivity disorder 	ICGC,
chr4	182086375	182086375	C	T	intergenic	LINC00290,MGC45800	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	146182033	146182033	C	T	intronic	PPP2R2B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	Alzheimer disease, association with |Spinocerebellar ataxia 12	ICGC,
chr7	65281924	65281924	G	A	intergenic	LOC441242,VKORC1L1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-UK|1|141|0.00709	-	-	-,-	-,-	ICGC,
chrX	85051127	85051127	G	T	intergenic	POF1B,CHM	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9101180	-	OV-AU|1|93|0.01075	-	-	normal phenotype,mortality/aging	Premature ovarian failure, association with,Choroideraemia|Potential protein deficiency	COSMIC,COSMIC,ICGC,
chr12	61662998	61662998	A	C	intergenic	SLC16A7,FAM19A2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	Autism spectrum disorder,-	ICGC,
chr9	128732079	128732079	G	A	intergenic	PBX3,LOC101929116	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15183102	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,-	Congenital heart defects,-	COSMIC,ICGC,
chr1	16840781	16840781	G	C	intergenic	CROCCP3,MIR3675	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ORCA-IN|1|178|0.00562	-	-	-,-	-,-	ICGC,
chr4	104958823	104958823	G	T	intergenic	TACR3,CXXC4	unknown	SNV	-	-	-	0.0072	-	-	-	-	-	COSN23980065	-	LAML-KR|1|205|0.00488,PBCA-US|1|186|0.00538	-	-	behavior/neurological phenotype,-	Kallmann syndrome|Hypogonadotropic hypogonadism,-	COSMIC,ICGC,
chrX	98161959	98161959	G	A	intergenic	DIAPH2,XRCC6P5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	cardiovascular system phenotype,-	Premature ovarian failure,-	ICGC,
chr10	119431927	119431927	C	A	intergenic	EMX2,RAB11FIP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging,-	Schizencephaly,-	ICGC,
chr1	142795823	142795823	C	G	intergenic	ANKRD20A12P,LOC102723769	unknown	SNV	-	-	-	-	rs75604880	-	-	-	-	-	-	LAML-KR|2|205|0.00976,LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr6	50322914	50322914	T	C	intergenic	DEFB112,TFAP2D	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,cellular phenotype	-,Schizophrenia	ICGC,
chr4	131292000	131292000	A	G	intergenic	LOC101927282,NONE	unknown	SNV	-	-	-	0.0707	rs11934427	-	0.140974	-	0.116	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr2	78045127	78045127	C	T	ncRNA_intronic	LOC101927967	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-	-	ICGC,
chr8	136801588	136801588	A	G	intergenic	KHDRBS3,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21771928	-	BRCA-UK|1|141|0.00709,BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr3	78600452	78600452	G	A	intergenic	ROBO2,ROBO1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,mortality/aging	Autism spectrum disorder  |Urinary tract anomalies|Vesicoureteral reflux,Developmental dyslexia 	ICGC,
chr1	190898787	190898787	A	C	intergenic	LOC440704,RGS18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,no phenotypic analysis	-,Potential protein deficiency	ICGC,
chr3	146801447	146801447	G	A	intergenic	PLSCR5,ZIC4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,mortality/aging	-,-	ICGC,
chr14	53273017	53273017	G	C	intergenic	GNPNAT1,FERMT2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,mortality/aging	-,-	ICGC,
chr4	181169791	181169791	G	T	intergenic	NONE,LINC00290	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr8	21173337	21173337	C	T	intergenic	LOC101929172,GFRA2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,-	ICGC,
chr16	76042168	76042168	C	T	intergenic	TERF2IP,CNTNAP4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	-,Autism	ICGC,
chr11	121805164	121805164	G	A	intergenic	SORL1,MIR100HG	unknown	SNV	-	-	-	0.0007	rs576742732	-	0.000199681	-	-	-	-	SKCA-BR|1|100|0.01000,PBCA-DE|1|499|0.00200	-	-	other phenotype,-	Alzheimer disease, association with|Alzheimer disease, early onset,-	ICGC,
chr14	83036107	83036107	T	C	intergenic	LOC101928559,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr12	81296249	81296249	-	TAT	intronic	LIN7A	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	mortality/aging	Intellectual disability in 12q21 deletion syndrome	ICGC,
chr11	98629723	98629723	C	T	intergenic	MIR7976,CNTN5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,behavior/neurological phenotype	-,-	ICGC,
chr12	5905013	5905013	C	T	intronic	ANO2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	taste/olfaction phenotype	-	ICGC,
chr1	120425274	120425274	G	A	intergenic	NBPF7,ADAM30	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22355648	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr19	12937650	12937650	G	A	exonic	RTBDN	nonsynonymous	SNV	0.633	0.354	2.588e-05	-	rs759082052	4.642e-05	-	-	-	COSM2816586	-	-	-	-	vision/eye phenotype	-	COSMIC,COSMIC,
chr7	63550405	63550405	A	G	intergenic	ZNF727P,ZNF735P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	ICGC,
chr9	115812143	115812143	G	T	exonic	ZFP37	nonsynonymous	SNV	0.061	0.004	4.063e-06	-	rs753655983	8.244e-06	-	-	-	COSM6269558	-	LICA-CN|1|402|0.00249	-	-	-	-	COSMIC,COSMIC,ICGC,
chr4	59079371	59079371	A	G	intergenic	IGFBP7-AS1,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr1	64221238	64221238	C	T	intergenic	PGM1,ROR1	unknown	SNV	-	-	-	0.0012	rs141235014	-	0.00159744	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,mortality/aging	Congenital disorder of glycosylation 1 |Phosphoglucomutase deficiency,-	ICGC,
chr4	121758480	121758480	-	T	intronic	PRDM5	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373,BRCA-EU|1|569|0.00176	-	-	skeleton phenotype	Brittle cornea syndrome	ICGC,
chr3	88714011	88714011	A	G	intergenic	C3orf38,EPHA3	unknown	SNV	-	-	-	0.1485	rs73136414	-	0.121805	-	0.174	-	-	LAML-KR|1|205|0.00488	-	-	-,mortality/aging	-,Oligozoospermia|Schizophrenia    |Sertoli-cell-only syndrome	ICGC,
chr6	63118109	63118109	G	T	intergenic	KHDRBS2,LGSN	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26526421	-	LICA-CN|1|402|0.00249	-	-	-,-	-,-	COSMIC,ICGC,
chr2	174054837	174054837	T	G	intronic	ZAK	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22188135	-	BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr2	117462544	117462544	T	C	intergenic	DPP10,DDX18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	Autism spectrum disorder,-	ICGC,
chr15	54801103	54801103	C	T	intronic	UNC13C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	behavior/neurological phenotype	Developmental delay  	ICGC,
chr15	98269343	98269343	G	A	intergenic	LOC101927310,LINC00923	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	ICGC,
chr11	91509956	91509956	G	A	intergenic	DISC1FP1,FAT3	unknown	SNV	-	-	-	3.231e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,vision/eye phenotype	-,Autism spectrum disorder	ICGC,
chr4	48313484	48313484	G	-	intergenic	TEC,SLAIN2	unknown	deletion	-	-	-	-	-	-	-	-	-	COSN22901839	-	BRCA-EU|1|569|0.00176	-	-	hematopoietic system phenotype,-	-,-	COSMIC,ICGC,
chr22	16631058	16631058	C	T	intergenic	OR11H1,CCT8L2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,Schizophrenia	ICGC,
chr3	67503951	67503951	G	A	intronic	SUCLG2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr19	31818164	31818164	T	A	intronic	TSHZ3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20300957	-	LUSC-KR|1|170|0.00588	-	-	integument phenotype	-	COSMIC,ICGC,
chr11	85126787	85126787	G	A	intronic	DLG2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Schizophrenia and epilepsy|Myopathy  |Intellectual disability, autism and epilepsy|Hypochondriasis|Dysmorphic features & speech delay|Developmental delay and dysmorphic features|Developmental delay  	ICGC,
chr4	116567605	116567605	-	TA	intergenic	NDST4,MIR1973	unknown	insertion	-	-	-	0.0052	-	-	-	-	-	COSN27728882	-	-	-	-	-,-	-,-	COSMIC,
chr20	5255612	5255612	G	A	intergenic	CDS2,PROKR2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,integument phenotype	-,Kallmann syndrome, reversible|Kallmann syndrome|Hypothalamic amenorrhea|Hypopituitarism with pituitary stalk interruption|Hypopituitarism and septo-optic dysplasia|Hypopituitarism|Hypogonadotropic hypogonadism|Hypogonadism|Hirschsprung disease |GnRH deficiency|Combined pituitary hormone deficiency / septic-optic dysplasia	ICGC,
chr2	168120036	168120036	A	C	intergenic	XIRP2,B3GALT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Schizophrenia,-	ICGC,
chr8	114289092	114289092	C	T	intronic	CSMD3	unknown	SNV	-	-	-	-	rs563286698	-	0.000199681	-	-	COSN9252666	-	RECA-EU|1|422|0.00237,PACA-CA|1|268|0.00373	-	-	-	Schizophrenia  |Colorectal cancer 	COSMIC,COSMIC,ICGC,
chr4	169075133	169075134	AC	-	intronic	ANXA10	unknown	deletion	-	-	-	0.4574	rs35992092	-	0.302316	-	-	COSN23354797	-	-	-	-	-	-	COSMIC,
chr11	21652104	21652104	C	T	intergenic	NELL1,ANO5	unknown	SNV	-	-	-	3.23e-05	-	-	-	-	-	COSN27659623	-	NKTL-SG|1|50|0.02000	-	-	mortality/aging,-	Crohn disease, association with,Persistent asymptomatic hyperCKemia|Myopathy of posterior calf muscles, late-onset|Myopathy / muscular dystrophy|Myopathy  |Muscular dystrophy, limb girdle 2L.|Muscular dystrophy, limb girdle 2L|Muscular dystrophy  |Miyoshi-like distal myopathy|Miyoshi myopathy, non-dysferlin|Miyoshi distal myopathy.|Miyoshi distal myopathy|Gnathodiaphyseal dysplasia|Autism 	COSMIC,ICGC,
chr2	103131581	103131581	G	A	intronic	SLC9A4	unknown	SNV	-	-	-	0.0008	rs184153608	-	0.000798722	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	immune system phenotype	Higher sST2 levels, association with	ICGC,
chr12	127293902	127293902	C	T	intergenic	LINC00944,LOC440117	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chrX	82609858	82609858	T	C	intergenic	NONE,POU3F4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,integument phenotype	-,X-linked mixed deafness|X-linked deafness|Sensorineural hearing loss  |Mixed hearing loss |Hearing loss, X-linked nonsyndromic|Hearing loss & mental retardation	ICGC,
chr21	24096058	24096058	T	C	intergenic	LINC00308,D21S2088E	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr2	162603534	162603534	G	A	intronic	SLC4A10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Schizophrenia  |Partial epilepsy and mental retardation|Mental retardation & muscular hypotonia|Mental retardation & generalised hypotonia|Epilepsy & mental retardation|Autism	ICGC,
chr16	60647395	60647395	A	G	intergenic	LOC729159,CDH8	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8820389	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	-,Learning disability  |Autism & learning disability 	COSMIC,ICGC,
chr10	95109937	95109937	G	A	intronic	MYOF	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	cardiovascular system phenotype	Schizophrenia|Autism	ICGC,
chr5	163927797	163927797	G	T	ncRNA_intronic	LOC102546299	unknown	SNV	-	-	-	0.2507	rs10045861	-	0.270168	-	0.326	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr11	34703775	34703775	T	C	intergenic	EHF,APIP	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6532547	-	PBCA-DE|1|499|0.00200	-	-	-,-	-,-	COSMIC,ICGC,
chr5	104450478	104450478	T	G	intergenic	RAB9BP1,LOC102467213	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	ICGC,
chr12	52532209	52532209	G	-	intergenic	OR7E47P,KRT80	unknown	deletion	-	-	-	-	-	-	-	-	-	COSN19375719	-	-	-	-	-,-	-,-	COSMIC,
chr4	142700528	142700528	A	G	intergenic	IL15,INPP4B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,hematopoietic system phenotype	-,-	ICGC,
chrX	63949595	63949595	G	A	intergenic	MTMR8,ZC4H2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Autism spectrum disorder,Arthrogryposis multiplex congenita and intellectual disability	ICGC,
chrX	54363732	54363732	C	T	intronic	WNK3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	cardiovascular system phenotype	Tetralogy of Fallot	ICGC,
chrX	78847320	78847320	C	A	intergenic	ITM2A,TBX22	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-,mortality/aging	-,Cleft palate, non-syndromic|Cleft palate and ankyloglossia, association with|Cleft palate and ankyloglossia|Cleft palate|Cleft lip and palate|Ankyloglossia |Abruzzo-Erickson syndrome	ICGC,
chr13	97840807	97840807	A	G	intergenic	OXGR1,MBNL2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21728600	-	BRCA-EU|1|569|0.00176	-	-	-,skeleton phenotype	Potential protein deficiency,-	COSMIC,ICGC,
chr7	62921565	62921565	G	A	intergenic	LOC100287834,MIR4283-2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr18	28830747	28830747	C	T	intergenic	DSC1,DSG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype,-	-,Striate palmoplantar keratoderma|SAM syndrome|Pemphigus foliaceus, association with|Focal palmoplantar keratoderma	ICGC,
chr1	107139816	107139816	C	A	intergenic	NONE,PRMT6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	ICGC,
chr3	74480078	74480078	T	C	intronic	CNTN3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr4	147937931	147937931	T	G	intergenic	TTC29,EDNRA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,Reduced pulmonary function, in cystic fibrosis, association with|Myocardial infarction|Migraine, association with|Intracranial aneurysm, increased risk, association with|Hypertension, protection against, association with |Hernia, diaphragmatic |Congenital absence of the vas deferens, association with|Breast cancer, susceptibility to, association with|Adrenal hyperplasia, macronodular, ACTH-independent	ICGC,
chr21	29962779	29962779	C	T	intergenic	LINC00161,N6AMT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-,mortality/aging	-,-	ICGC,
chr11	6801689	6801689	C	G	intergenic	OR2AG2,OR2AG1	unknown	SNV	-	-	-	0.2620	rs11041018	-	0.207268	-	0.239	COSN15339379	-	-	-	-	-,-	-,-	COSMIC,
chr3	68644364	68644364	G	A	intergenic	FAM19A1,FAM19A4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr16	24485593	24485593	C	A	intergenic	CACNG3,RBBP6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging,mortality/aging	-,-	ICGC,
chr11	93929409	93929409	C	T	intergenic	PANX1,FOLR4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	respiratory system phenotype,-	-,-	ICGC,
chr2	126440356	126440356	G	T	intergenic	CNTNAP5,GYPC	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21594950	-	BRCA-EU|1|569|0.00176	-	-	-,-	Autism,Glycophorin C variant|Gerbich-negative blood group|Elliptocytosis|Duch blood group	COSMIC,ICGC,
chr14	37520468	37520468	C	T	intronic	SLC25A21	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype	Synpolydactyly	ICGC,
chr11	7512492	7512492	C	T	intronic	OLFML1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	-	ICGC,
chr17	52871663	52871663	C	G	intergenic	KIF2B,TOM1L1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	189615155	189615155	C	T	downstream	TP63	unknown	SNV	-	-	-	-	rs753868963	-	-	-	-	COSN7758205	-	PACA-CA|1|268|0.00373	-	-	integument phenotype	EECUT plus syndrome|Limb-mammary syndrome|Lung adenocarcinoma, susceptibility to, association with|Rapp-Hodgkin syndrome|Rapp-Hodgkin/AEC/ADULT syndrome|Split hand-split foot malformation with amelogenesis imperfecta|Split-hand/split-foot and anorectal malformations.|Split-hand/split-foot malformation|EEC syndrome without clefting|EEC syndrome with linear and whorled naevoid hypermelanosis|ADULT syndrome|ADULT syndrome with cleft palate|AEC / Rapp-Hodgkin syndrome|AEC syndrome|Cleft lip, non-syndromic|Cleft palate, hypohidrosis and oligodontia|Ectrodactyly, ectodermal dysplasia, & clefting/Ectrodactyly-ectoderm. dyspl./Ectoderm. dyspl./Split hand-foot malf. type 4.|EEC syndrome	COSMIC,ICGC,
chr8	43653549	43653549	G	A	intergenic	POTEA,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr12	13647465	13647465	T	C	intergenic	C12orf36,GRIN2B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15915048	-	PACA-CA|1|268|0.00373	-	-	-,mortality/aging	-,Mental retardation, behavioural anomalies & abnormal EEG|Potential protein deficiency|Schizophrenia, association with|Schizophrenia, association with.|West syndrome|Mental retardation with behavioural anomalies|Intellectual disability  |Huntington disease, earlier onset in females, association with|Focal epilepsy & intellectual disability|Autism spectrum disorder|Autism|Alzheimer disease, increased risk, association with	COSMIC,ICGC,
chr4	104169004	104169004	G	C	intergenic	CENPE,TACR3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22011922	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging,behavior/neurological phenotype	Cancer  ,Kallmann syndrome|Hypogonadotropic hypogonadism	COSMIC,ICGC,
chr7	24126715	24126715	G	A	intergenic	STK31,NPY	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,skeleton phenotype	-,Major depressive disorder, association with|Metabolic syndrome in coronary artery disease, association with|Schizophrenia, association with|Serum leptin levels, and waist-hip ratio, in women, association with.|Hypertension, association with|Huntington disease, age at onset, association with|Elevated plasma LDL, association with|Diabetes, type II,  in middle-aged subjects, association with|Coronary artery disease, association with|Altered response to growth factors, association with|Alcohol dependence, association with|Stress response	ICGC,
chr7	92788070	92788070	C	T	intergenic	SAMD9L,HEPACAM2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	tumorigenesis,-	-,Autism spectrum disorder	ICGC,
chr6	79313447	79313447	C	T	intergenic	MEI4,IRAK1BP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,no phenotypic analysis	-,-	ICGC,
chr15	87989509	87989509	C	T	intergenic	AGBL1,LINC00052	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,-	Fuchs corneal dystrophy, late-onset ,-	ICGC,
chr9	7410667	7410667	T	G	intergenic	KDM4C,TMEM261	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	integument phenotype,-	Upper aerodigestive tract cancer, association with,-	ICGC,
chr17	54046554	54046554	T	C	intergenic	PCTP,ANKFN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	immune system phenotype,-	-,-	ICGC,
chr11	106226850	106226850	G	A	intergenic	LOC101928535,GUCY1A2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8730187	-	OV-AU|1|93|0.01075	-	-	-,hematopoietic system phenotype	-,-	COSMIC,ICGC,
chr2	47000338	47000338	G	A	intergenic	SOCS5,LINC01118	unknown	SNV	-	-	-	3.288e-05	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	integument phenotype,-	-,-	ICGC,
chrX	92430160	92430160	C	T	intergenic	PCDH11X,NAP1L3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	Absent speech, intellectual disability & behavioural problems|Attention deficit hyperactivity disorder & obsessive compulsive disorder|Developmental dyslexia |Language delay, nonsyndromic ,-	ICGC,
chr16	1270717	1270717	C	T	exonic	CACNA1H	nonsynonymous	SNV	0.059	0.004	-	-	-	-	-	-	-	COSM3506024	SKCM|1|368|0.00272	SKCM-US|1|335|0.00299	-	-	cardiovascular system phenotype	Schizophrenia  |Idiopathic epilepsy, generalised|Epilepsy, childhood absence, association with|Epilepsy, childhood absence|Autism spectrum disorder |Altered channel function	COSMIC,COSMIC,COSMIC,TCGA,ICGC,
chr11	69364485	69364485	G	A	intergenic	LOC101928292,CCND1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN18826011	-	-	-	-	-,integument phenotype	-,Renal cell carcinoma, association with|Oral cancer, association with.|Nonmuscle-invasive bladder cancer, association with.|Multiple myeloma risk, association with|Increased transcript levels|Increased chromosomal aberrations, association with|HNPCC, early onset, association with|Glioma, increased risk, association with|Colorectal cancer, association with|Cervical cancer, protection against, association with.|Cervical cancer, increased risk, association with|Cancer, increased risk|Breast cancer, oestrogen receptor-positive, association with|Breast cancer, in Chinese, association with.	COSMIC,
chr9	17392389	17392389	T	G	intronic	CNTLN	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6603399	-	PBCA-DE|1|499|0.00200	-	-	-	-	COSMIC,ICGC,
chr18	66052574	66052574	G	A	intergenic	LOC643542,TMX3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr19	49131504	49131504	C	T	exonic	SPHK2	nonsynonymous	SNV	0.009	1.0	4.079e-06	-	-	-	-	-	-	COSM5136605	COAD|1|367|0.00272,COADREAD|1|489|0.00204	COAD-US|1|254|0.00394	-	-	mortality/aging	-	COSMIC,COSMIC,COSMIC,TCGA,ICGC,
chr8	34199845	34199845	T	G	intergenic	DUSP26,UNC5D	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr6	128902238	128902238	C	T	intergenic	PTPRK,LAMA2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,mortality/aging	Autism,Muscular dystrophy, merosin deficient|Myopathy with sarcotubular proliferation|Schizophrenia  |Tuberculoid leprosy, association with |Muscular dystrophy, limb girdle|Muscular dystrophy, congenital 1A.|Muscular dystrophy, congenital 1A, atypical|Muscular dystrophy, congenital 1A|Laminin alpha 2 chain deficiency, partial|Cardiomyopathy, dilated, type 1A	ICGC,
chr9	119610302	119610302	C	T	intronic	ASTN2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	Autism spectrum disorder |Intellectual disability  |Schizophrenia  	ICGC,
chr7	83262039	83262039	C	T	intronic	SEMA3E	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	vision/eye phenotype	CHARGE syndrome|Tetralogy of Fallot	ICGC,
chr12	108668052	108668052	G	A	intergenic	WSCD2,CMKLR1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,hematopoietic system phenotype	-,-	ICGC,
chr1	74281218	74281218	G	A	intergenic	LINC01360,LRRIQ3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr13	64851790	64851790	G	A	intergenic	OR7E156P,PCDH9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	138335640	138335640	G	A	intronic	THSD7B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Autism spectrum disorder	ICGC,
chr8	105715227	105715227	T	C	intergenic	LRP12,ZFPM2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	-,Atrial septal defect & gonadal dysgenesis|Diaphragmatic hernia, congenital|Double outlet right ventricle |Gonadal dysgenesis |Reduced activity|Tetralogy of Fallot 	ICGC,
chr14	24574761	24574761	G	T	intergenic	PCK2,DCAF11	unknown	SNV	-	-	-	-	rs182359656	-	0.000199681	-	-	-	-	LAML-KR|1|205|0.00488	-	-	-,-	PEPCK deficiency, mitochondrial,Autism spectrum disorder	ICGC,
chr3	86271366	86271366	C	A	intergenic	CADM2,RNU6-69P	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25771323	-	EOPC-DE|1|202|0.00495	-	-	-,-	-,-	COSMIC,ICGC,
chr2	199946073	199946073	C	-	intergenic	LOC101927619,SATB2	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,mortality/aging	-,Toriello-Carey syndrome|Pierre Robin sequence  |Intellectual disability, nonsyndromic|Dentofacial abnormalities|Cleft palate, osteoporosis and cognitive defects|Cleft palate|Autism spectrum disorder	ICGC,
chr15	79633563	79633563	T	G	intergenic	TMED3,KIAA1024	unknown	SNV	-	-	-	0.0854	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	ICGC,
chr16	10788716	10788716	C	T	exonic	TEKT5	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM702012	-	LUSC-US|1|194|0.00515	-	-	-	-	COSMIC,ICGC,
chr10	90005311	90005311	-	A	intergenic	PTEN,RNLS	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PRAD-UK|1|140|0.00714	-	-	integument phenotype,cardiovascular system phenotype	Macrocephaly |Lhermitte-Duclos disease|Juvenile polyposis coli|Increased expression|Hypoglycaemia, macrocephaly, developmental delay, short stature and coagulopathy |Hyperplastic polyps and tubular adenomas|Hamartoma tumour syndrome|Gorham-Stout phenomenon|Gastrointestinal polyposis|Gastric cancer, association with|Macrocephaly, hypotonia & learning disabilities|Macrocephaly, ventriculomegaly, VATER association|PTEN hamartoma-tumour syndrome with systemic lupus erythematosus|PTEN hamartoma-tumour syndrome|PTEN hamartoma tumour syndrome|Proteus-like syndrome|Proteus syndrome|Neurodevelopmental disorders and macrocephaly without autism|Neurodevelopmental disorders and macrocephaly with autism|Multiple cancers|Mental retardation  |Squamous cell carcinoma|Diabetes, type 2, association with|Developmental delay and macrocephaly|Breast cancer|Bannayan-Zonana syndrome|Bannayan-Riley-Ruvalcaba syndrome, with cortical dysplasia|Bannayan-Riley-Ruvalcaba syndrome|Autism-epilepsy with macrocephaly|Autism spectrum disorders, developmental delay and macrocephaly|Autism spectrum disorder and macrocephaly|Autism spectrum disorder |Autism|Breast cancer, lower age of diagnosis, association with|Breast cancer.|Complex atypical hyperplasia|Developmental delay  |Cowden/Bannayan syndrome.|Cowden syndrome|Cowden disease with neuroblastoma|Cowden disease and vascular anomalies|Cowden disease / Sjogren's syndrome|Cowden disease|Cowden / Cowden-like syndrome with thyroid cancer|Cowden / Bannayan-Riley-Ruvalcaba syndromes,Paediatric cataract |Essential hypertension in Han Chinese, association with|Cardiac hypertrophy, dysfunction & ischemia, association with	ICGC,
chr10	87096869	87096869	C	T	intergenic	LOC101929624,LOC101929646	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr5	76025679	76025679	G	A	intronic	F2R	unknown	SNV	-	-	-	3.23e-05	rs763068491	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Coronary heart disease, association with|Low platelet receptor density, association with|Venous thromboembolism, protection (male), association	ICGC,
chr17	60315512	60315512	G	A	intergenic	MED13,TBC1D3P2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	cardiovascular system phenotype,-	Cataract, hearing loss, intellectual disability & short stature,-	ICGC,
chr6	160679401	160679401	G	A	exonic	SLC22A2	nonsynonymous	SNV	0.205	1.0	-	-	-	-	-	-	-	COSM3720150	-	ESAD-UK|1|301|0.00332	-	-	homeostasis/metabolism phenotype	Metformin clearance, association with|Hypertension|Decreased transporter function|Altered transporter function|Altered gene expression	COSMIC,ICGC,
chr18	31853612	31853612	T	A	intergenic	NOL4,DTNA	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16555352	-	PACA-CA|1|268|0.00373,BRCA-EU|1|569|0.00176	-	-	-,mortality/aging	-,Left ventricular noncompaction with CHD	COSMIC,ICGC,
chr13	82811933	82811933	G	A	intergenic	SPRY2,SLITRK1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,mortality/aging	Cleft lip ,Trichotillomania|Tourette syndrome|Obsessive-compulsive disorder |Attention deficit hyperactivity disorder 	ICGC,
chr14	33841195	33841195	G	T	intronic	NPAS3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	mortality/aging	Mental illness|Schizophrenia	ICGC,
chr10	99945473	99945473	C	T	intronic	R3HCC1L	unknown	SNV	-	-	-	-	rs540928668	-	0.000199681	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr12	20830702	20830702	A	C	intronic	PDE3A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8961972	-	ESAD-UK|1|301|0.00332	-	-	reproductive system phenotype	-	COSMIC,ICGC,
chr16	65030394	65030394	G	-	intronic	CDH11	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	integument phenotype	-	ICGC,
chr14	69330562	69330562	-	G	intergenic	ZFP36L1,ACTN1	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN22825532	-	-	-	-	mortality/aging,no phenotypic analysis	Butyrate response factor 1 deficiency,Schizophrenia|Macrothrombocytopaenia	COSMIC,
chr3	19566413	19566413	G	A	intronic	KCNH8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr7	153562282	153562282	T	G	intergenic	ACTR3B,DPP6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,nervous system phenotype	-,Autism spectrum disorder  |Schizophrenia  |Ventricular fibrillation, idiopathic 	ICGC,
chr4	48167158	48167158	T	A	intronic	TEC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype	-	ICGC,
chr4	126358262	126358262	C	T	intronic	FAT4	unknown	SNV	-	-	-	6.46e-05	rs145050452	-	0.000199681	-	-	COSN27636392	-	NKTL-SG|1|50|0.02000	-	-	mortality/aging	Periventricular neuronal heterotopia|Schizophrenia	COSMIC,ICGC,
chr9	27837602	27837602	A	T	intergenic	C9orf72,LINGO2	unknown	SNV	-	-	-	0.5707	rs2383736	-	0.54353	-	0.594	-	-	ESAD-UK|1|301|0.00332,LAML-KR|2|205|0.00976	-	-	-,-	Frontotemporal dementia, early-onset behavioral variant.|Frontotemporal dementia/Amyotrophic lateral sclerosis.|Huntington disease phenocopy|Lund frontotemporal dementia|Multiple neurodegenerative syndromes|Multiple sclerosis-amyotrophic lateral sclerosis.|Olivopontocerebellar degeneration/atypical Parkinsonian syndrome/corticobasal syndrome.|Parkinson disease  |Schizophrenia  |Frontotemporal dementia, behavioural variant|Frontotemporal dementia with psychosis, parkinsonism, visuo-spatial dysfunction, upper motor neuron involvement.|Alzheimer disease|Alzheimer disease.|Amyotrophic lateral sclerosis|Amyotrophic lateral sclerosis / frontotemporal dementia  |Bipolar affective disorder preceding frontotemporal dementia.|Bipolar disorder  |Dementia.|Frontotemporal dementia|Frontotemporal dementia / motor neuron disease,Autism spectrum disorder  |Developmental delay with absent speech	ICGC,
chr5	163960507	163960507	-	T	ncRNA_intronic	LOC102546299	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr16	71425929	71425929	C	T	intergenic	CALB2,ZNF23	unknown	SNV	-	-	-	3.228e-05	rs185707018	-	0.000199681	-	-	COSN7269944	-	ESAD-UK|1|301|0.00332,PACA-AU|1|391|0.00256	-	-	behavior/neurological phenotype,-	-,-	COSMIC,COSMIC,ICGC,
chr1	242383405	242383405	G	A	exonic	PLD5	nonsynonymous	SNV	0.067	0.421	2.032e-05	-	rs773800524	2.472e-05	-	-	-	COSM5108463	COAD|1|367|0.00272,COADREAD|3|489|0.00613,LUAD|1|543|0.00184,OV|1|469|0.00213,READ|2|122|0.01639	-	-	-	-	-	COSMIC,COSMIC,COSMIC,TCGA,
chrX	11706837	11706837	-	GTGA	intergenic	ARHGAP6,MSL3	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	mortality/aging,-	Microphthalamia with linear skin defects,-	ICGC,
chr21	18455308	18455308	-	ACGC	intergenic	LINC00478,C21orf37	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|2|67|0.02985	-	-	-,-	-,-	ICGC,
chr12	18896597	18896597	-	TTTTT	intergenic	CAPZA3,PLEKHA5	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|2|67|0.02985	-	-	reproductive system phenotype,reproductive system phenotype	-,-	ICGC,
chr9	75865176	75865176	C	A	intergenic	ANXA1,MIR6130	unknown	SNV	-	-	-	7.223e-05	-	-	-	-	-	COSN24362440	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,-	Autism spectrum disorder,-	COSMIC,ICGC,
chr1	41781118	41781118	C	A	intergenic	SCMH1,FOXO6	unknown	SNV	-	-	-	9.696e-05	rs747824750	-	-	-	-	COSN225168	-	-	-	-	skeleton phenotype,-	-,-	COSMIC,
chr5	46081422	46081422	C	A	intergenic	HCN1,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Idiopathic epilepsy, generalised ,-	ICGC,
chr3	137641313	137641313	C	T	intergenic	LINC01210,CLDN18	unknown	SNV	-	-	-	3.231e-05	rs559829135	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr12	3921671	3921671	C	T	intronic	PARP11	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7369029	-	PACA-AU|1|391|0.00256	-	-	-	-	COSMIC,ICGC,
chrX	78623639	78623639	-	GT	upstream	ITM2A	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|2|71|0.02817	-	-	-	-	ICGC,
chr19	1226066	1226066	C	G	intronic	STK11	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Sotos-like syndrome|Peutz-Jeghers syndrome with pancreatic cancer|Peutz-Jeghers syndrome with distal bile duct / ampullary cancer|Peutz-Jeghers syndrome with developmental delay, cleft palate & seizures|Peutz-Jeghers syndrome with congenital heart defect, high myopia, learning difficulties & dysmorphic features|Peutz-Jeghers syndrome |Juvenile polyposis coli|Gonadotrophin-independent precocious puberty|Gastrointestinal polyposis|Breast and/or ovarian cancer 	ICGC,
chr1	28486974	28486974	G	A	intronic	PTAFR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	reproductive system phenotype	Schizophrenia|Relapsing-remitting multiple sclerosis, association with|Impaired G-protein activation, association with	ICGC,
chr12	96819812	96819812	G	A	intergenic	CDK17,NEDD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr15	100439773	100439773	A	T	intergenic	DNM1P46,ADAMTS17	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,Weill-Marchesani-like syndrome|Spherophakia with short stature|Short stature|Schizophrenia  	ICGC,
chr8	111653396	111653396	G	A	intergenic	KCNV1,CSMD3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,-	-,Schizophrenia  |Colorectal cancer 	ICGC,
chr2	127952987	127952987	C	T	exonic	CYP27C1	nonsynonymous	SNV	0.149	0.025	-	-	-	-	-	-	-	COSM6639129	-	-	-	-	-	-	COSMIC,
chr18	64640616	64640616	C	T	intergenic	CDH19,MIR5011	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21373839	-	BRCA-EU|1|569|0.00176	-	-	-,-	Tetralogy of Fallot,-	COSMIC,ICGC,
chr2	125774497	125774497	G	A	intergenic	CNTNAP5,GYPC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|2|100|0.02000	-	-	-,-	Autism,Glycophorin C variant|Gerbich-negative blood group|Elliptocytosis|Duch blood group	ICGC,
chr13	49514189	49514189	T	C	intergenic	CYSLTR2,FNDC3A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,reproductive system phenotype	Increased expression|Atopy, association with,-	ICGC,
chr6	147597447	147597447	-	T	intronic	STXBP5	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176,MALY-DE|1|241|0.00415	-	-	mortality/aging	Autism spectrum disorder  |Venous thrombosis, reduced risk, association	ICGC,
chr15	52637979	52637979	C	T	intronic	MYO5A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	integument phenotype	Griscelli syndrome	ICGC,
chr10	33375491	33375491	G	A	intergenic	ITGB1,NRP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,mortality/aging	-,-	ICGC,
chr11	88492658	88492658	A	G	intronic	GRM5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25023316	-	LICA-FR|1|252|0.00397	-	-	integument phenotype	Attention deficit hyperactivity disorder|Schizophrenia   	COSMIC,ICGC,
chr8	113933979	113933979	G	A	exonic	CSMD3	nonsynonymous	SNV	0.012	0.551	-	-	-	-	-	-	-	COSM3924521	SKCM|2|368|0.00543	SKCM-US|1|335|0.00299	-	-	-	Schizophrenia  |Colorectal cancer 	COSMIC,COSMIC,TCGA,ICGC,
chr8	138663909	138663909	G	A	intergenic	KHDRBS3,FAM135B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr10	96365341	96365341	C	T	intergenic	HELLS,CYP2C18	unknown	SNV	-	-	-	0.0016	rs188612061	-	0.00139776	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	-,Autism spectrum disorder|Null allele	ICGC,
chr2	27267998	27267998	G	A	intergenic	TMEM214,AGBL5-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	96648627	96648642	ATATATATATATATAT	-	intergenic	LOC100996635,LOC101928241	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr7	95647356	95647356	G	A	intronic	DYNC1I1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24997963	-	LICA-FR|1|252|0.00397	-	-	-	Split hand/foot malformation	COSMIC,ICGC,
chr2	149925974	149925974	A	G	intronic	LYPD6B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6196643	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr12	53281139	53281139	G	A	intergenic	KRT78,KRT8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,mortality/aging	-,Ulcerative colitis  |Liver disease, susceptibility to|Liver disease |Inflammatory bowel disease|Fibrosis progression in hepatitis C infection|Cryptogenic liver disease	ICGC,
chr13	86957262	86957262	A	C	intergenic	SLITRK6,MIR4500HG	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	behavior/neurological phenotype,-	High myopia and sensorineural deafness,-	ICGC,
chr2	223946700	223946700	T	C	intergenic	KCNE4,SCG2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-,-	Periodic paralysis |Atrial fibrillation, association with|Atrial fibrillation ?,Hypertension, association with	ICGC,
chr2	105085439	105085439	C	T	ncRNA_intronic	LINC01102	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr12	40702994	40702994	G	T	exonic	LRRK2	nonsynonymous	SNV	0.651	0.002	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	integument phenotype	Rheumatoid arthritis|Restless leg syndrome.|Potential protein deficiency|Postural instability and gait difficulty, in Parkinson disease|Parkinson disease, reduced risk, association with|Parkinson disease, association with|Parkinson disease |Parkinson and alzheimer disease|Multiple sclerosis|Dyslipidaemia|Concomitant non-skin cancer|Cancer, increased risk, association with|Alzheimer's disease, association with	ICGC,
chr8	32781793	32781793	C	T	intergenic	NRG1,FUT10	unknown	SNV	-	-	-	0.0001	rs550861540	-	0.00119808	-	0.007	COSN7670744	-	LAML-KR|1|205|0.00488,PACA-CA|1|268|0.00373	-	-	integument phenotype,-	Sudden cardiac death, association with|Schizophrenia, association with  |Schizophrenia in African Americans, association with|Prepulse inhibition, association with|Perceptual aberration of schizotypal personality, association with|Increased lateral ventricle volume in schizophrenia|Hirschsprung disease|Developmental delay, hypotonia & microcephaly|Alzheimers disease, association with,-	COSMIC,ICGC,
chr3	127609985	127609985	C	T	intergenic	MGLL,KBTBD12	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	integument phenotype,-	Obesity ,-	ICGC,
chr4	84059404	84059404	G	A	intergenic	PLAC8,COQ2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	hematopoietic system phenotype,-	-,Potential protein deficiency|OXPHOS deficiency|Nephrotic syndrome, steroid resistant?|Nephrotic syndrome, steroid resistant|Multiple system atrophy, increased risk, association with  |Multiple system atrophy  |Hypercholesterolaemia ?|Coenzyme Q10 deficiency	ICGC,
chr11	69557567	69557567	G	A	intergenic	FGF19,FGF4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,mortality/aging	-,-	ICGC,
chr6	101655129	101655129	T	C	intergenic	ASCC3,GRIK2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	other phenotype,behavior/neurological phenotype	Colorectal cancer, increased risk, association with|Intellectual disability  ,Mental retardation, non-syndromic, autosomal recessive	ICGC,
chr12	81370390	81370390	G	A	intergenic	LIN7A,ACSS3	unknown	SNV	-	-	-	3.232e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Intellectual disability in 12q21 deletion syndrome,-	ICGC,
chr1	166543183	166543183	G	A	intergenic	FAM78B,FMO9P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr14	21773988	21773988	C	T	intronic	RPGRIP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	vision/eye phenotype	Usher syndrome |Retinitis punctata albescens|Retinitis pigmentosa, isolated|Retinitis pigmentosa, autosomal recessive ?|Retinitis pigmentosa, autosomal dominant ?|Retinitis pigmentosa |Primary open angle glaucoma|Leber congenital amaurosis.|Leber congenital amaurosis, cone-rod|Leber congenital amaurosis|Glaucoma, primary open angle |Cone-rod dystrophy?|Cone-rod dystrophy 	ICGC,
chr5	7698467	7698467	G	T	exonic	ADCY2	synonymous	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr1	52761814	52761814	C	T	intronic	ZFYVE9	unknown	SNV	-	-	-	0.0004	rs577946508	-	0.0103834	-	-	COSN18715331	-	COCA-CN|1|321|0.00312,PACA-CA|1|268|0.00373	-	-	-	-	COSMIC,COSMIC,ICGC,
chr8	22686373	22686373	C	T	intronic	PEBP4	unknown	SNV	-	-	-	3.231e-05	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-	-	ICGC,
chr11	84351456	84351456	G	A	intronic	DLG2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	integument phenotype	Schizophrenia and epilepsy|Myopathy  |Intellectual disability, autism and epilepsy|Hypochondriasis|Dysmorphic features & speech delay|Developmental delay and dysmorphic features|Developmental delay  	ICGC,
chr2	95950410	95950410	G	A	intronic	PROM2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-	-	ICGC,
chr12	22437435	22437435	G	-	intronic	ST8SIA1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	mortality/aging	-	ICGC,
chr1	34817657	34817657	G	A	intergenic	C1orf94,GJB5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,-	ICGC,
chr9	71371400	71371400	G	T	intronic	PIP5K1B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	hematopoietic system phenotype	-	ICGC,
chr8	112877968	112877968	C	T	intergenic	KCNV1,CSMD3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,-	-,Schizophrenia  |Colorectal cancer 	ICGC,
chr7	146459943	146459943	T	G	intronic	CNTNAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype	Gilles de la Tourette syndrome|Intellectual disability  |Learning disability & speech problems|Mental retardation |Mental retardation, Pitt-Hopkins-like|Multiple congenital anomalies  |Seizures, neonatal |Speech delay  |Stuttering |Epileptic encephalopathy  |Epilepsy and schizophrenia|Autism|Autism spectrum disorder |Autism spectrum disorder, modifier of|Childhood apraxia of speech|Cortical dysplasia-focal epilepsy syndrome|Developmental and/or speech and/or behavioural problems|Developmental delay  |Developmental delay & dysmorphic features|Dyslexia 	ICGC,
chr4	131388910	131388910	A	C	intergenic	LOC101927282,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15079236	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr3	172282143	172282143	C	T	intergenic	TNFSF10,NCEH1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	mortality/aging,immune system phenotype	Breast cancer, association with|Potential protein deficiency,-	ICGC,
chr6	115705678	115705678	C	T	intergenic	HS3ST5,FRK	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9292025	-	OV-AU|1|93|0.01075	-	-	-,homeostasis/metabolism phenotype	-,Potential protein deficiency	COSMIC,ICGC,
chr12	125130349	125130349	G	A	intergenic	NCOR2,SCARB1	unknown	SNV	-	-	-	-	rs774051070	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,mortality/aging	Schizophrenia  ,SR-BI protein levels in hyperalphalipoproteinemia|Receptor variant|Lipoprotein levels, association with|Increased HDL cholesterol level, association with|Increased HDL cholesterol|Hypercholesterolaemia ?|HDL cholesterol levels, in women, association with|Age-related macular degeneration, increased risk	ICGC,
chr2	35726119	35726119	G	A	intergenic	MYADML,LOC100288911	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr7	110851712	110851712	C	T	intronic	IMMP2L	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	reproductive system phenotype	Gilles de la Tourette syndrome|Autism	ICGC,
chr1	89161310	89161310	G	A	intronic	PKN2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr4	90035516	90035516	A	G	exonic	TIGD2	nonsynonymous	SNV	0.031	0.514	4.065e-06	-	rs768437030	8.287e-06	-	-	-	COSM4911838	LIHC|1|373|0.00268	LIHC-US|1|189|0.00529	-	-	-	-	COSMIC,TCGA,ICGC,
chr4	131276875	131276875	G	T	intergenic	LOC101927282,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr20	20744781	20744781	G	A	intergenic	RALGAPA2,KIZ	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Rod-cone dystrophy, autosomal recessive	ICGC,
chr5	10985047	10985047	A	G	intronic	CTNND2	unknown	SNV	-	-	-	0.4334	rs6865152	-	0.39397	-	0.326	-	-	ESAD-UK|1|301|0.00332	-	-	behavior/neurological phenotype	Schizophrenia  |Lennox-Gastaut syndrome |Autism spectrum disorder|Anorectal malformation|Altered localisation	ICGC,
chr11	26383561	26383561	C	T	intronic	ANO3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	Craniocervical dystonia|Dystonia, primary torsion	ICGC,
chr5	31335189	31335189	G	T	intergenic	CDH6,DROSHA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	renal/urinary system phenotype,integument phenotype	-,Epithelial ovarian cancer, increased risk, association |Lung cancer, survival, association with 	ICGC,
chr13	83328922	83328922	C	T	intergenic	NONE,SLITRK1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,mortality/aging	-,Trichotillomania|Tourette syndrome|Obsessive-compulsive disorder |Attention deficit hyperactivity disorder 	ICGC,
chr2	121870769	121870769	C	T	intergenic	GLI2,TFCP2L1	unknown	SNV	-	-	-	0.0003	rs367851489	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,mortality/aging	Hypopituitarism  |Hypopituitarism & ectopic posterior pituitary lobe|Hypopituitarism and/or post-axial polydactyly|Multiple pituitary hormone deficiency|Reduced transcriptional activity|Schizophrenia|Holoprosencephaly, lobar|Holoprosencephaly-like phenotype|Cleft lip |Craniofacial anomalies |Holoprosencephaly |Holoprosencephaly spectrum phenotype|Holoprosencephaly with anophthalmia, branchial arch anomalies & CNS anomalies|Holoprosencephaly with heminasal aplasia & orbital anomalies,-	ICGC,
chr2	137038059	137038059	T	A	intergenic	CXCR4,THSD7B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	mortality/aging,-	WHIM syndrome,Autism spectrum disorder	ICGC,
chr4	20878648	20878648	C	T	intronic	KCNIP4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15707884	-	LIRI-JP|1|258|0.00388	-	-	-	Renal cell carcinoma 	COSMIC,ICGC,
chr3	102681893	102681893	C	G	intergenic	ZPLD1,MIR548A3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	Cerebral cavernous malformations,-	ICGC,
chr1	240149596	240149596	G	A	intergenic	CHRM3,RPS7P5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17008809	-	PRAD-CA|1|308|0.00325	-	-	vision/eye phenotype,-	Autistic disorder|Bladder malformation|Diabetes, type 2, increased risk, association |Tetralogy of Fallot,-	COSMIC,ICGC,
chr15	25117215	25117215	-	A	intronic	SNRPN	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PACA-AU|1|391|0.00256	-	-	mortality/aging	Prader-Willi syndrome|Asperger syndrome|Angelman syndrome	ICGC,
chr14	34093114	34093114	G	A	intronic	NPAS3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Mental illness|Schizophrenia	ICGC,
chr8	34492546	34492546	G	A	intergenic	DUSP26,UNC5D	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr11	123478506	123478506	A	T	intronic	GRAMD1B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21900804	-	BRCA-EU|1|569|0.00176	-	-	no phenotypic analysis	-	COSMIC,ICGC,
chr7	107264779	107264779	G	A	intergenic	BCAP29,SLC26A4-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	24144819	24144819	T	C	upstream	LINC00691	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-	-	ICGC,
chr6	52383987	52383987	G	C	intronic	TRAM2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-	-	ICGC,
chr4	22383039	22383039	T	C	intergenic	LOC100505912,GPR125	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,normal phenotype	-,Retinitis pigmentosa	ICGC,
chr1	75464675	75464675	A	T	intergenic	TYW3,LHX8	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16818484	-	PACA-CA|1|268|0.00373	-	-	-,mortality/aging	-,Cleft lip 	COSMIC,ICGC,
chr14	28265037	28265037	T	A	intergenic	LINC00645,FOXG1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6244852	-	LIRI-JP|1|258|0.00388	-	-	-,integument phenotype	-,West syndrome |Rett-like syndrome|Rett syndrome|Refractory epilepsy & intellectual impairment|Microcephaly, mental retardation & thin genu of corpus callosum|Mental retardation, speech impairment & epilepsy|Mental retardation & speech impairment|Mental retardation & postnatal microcephaly|Mental retardation & callosum abnormalities|Mental retardation|Infantile spasms|Hemifacial microsomia|Generalized dystonia, athetosis and parkinsonism|Developmental delay, microcephaly & hypoplasia of the corpus callosum|Developmental delay, hypotonia, microcephaly & infantile spasms|Developmental delay & slow head growth|Agenesis of corpus callosum	COSMIC,ICGC,
chr1	100266097	100266097	C	A	intergenic	FRRS1,AGL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,Glycogen storage disease 3|Glycogen storage disease 3a|Glycogen storage disease 3c|Glycogen storage disease 3d	ICGC,
chr13	30441750	30441750	G	A	intergenic	UBL3,LINC00297	unknown	SNV	-	-	-	0.0007	rs140736635	-	0.000199681	-	-	COSN20188774	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	COSMIC,ICGC,
chr7	94564724	94564724	G	A	intronic	PPP1R9A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BOCA-UK|1|130|0.00769	-	-	behavior/neurological phenotype	-	ICGC,
chr8	135568799	135568799	G	A	intronic	ZFAT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Autoimmune thyroid disease, association with	ICGC,
chr1	158135431	158135431	A	C	intergenic	LOC646268,CD1D	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,-	ICGC,
chr13	25825882	25825882	G	A	exonic	MTMR6	stopgain	SNV	-	-	4.164e-06	-	rs750462481	8.478e-06	-	-	-	COSM4046744	STAD|1|395|0.00253,STES|1|395|0.00253	STAD-US|1|289|0.00346	-	-	-	-	COSMIC,TCGA,ICGC,
chr5	64503616	64503616	T	C	intronic	ADAMTS6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	Schizophrenia	ICGC,
chr19	14004035	14004035	A	G	exonic	C19orf57	nonsynonymous	SNV	0.27	0.999	-	-	-	-	-	-	-	-	KIPAN|1|799|0.00125,KIRP|1|282|0.00355	-	-	-	-	-	TCGA,
chr1	71840140	71840140	C	A	intergenic	ZRANB2-AS2,NEGR1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27717945	-	NKTL-SG|1|50|0.02000	-	-	-,behavior/neurological phenotype	-,Obesity, association with|Dyslexia |Body mass index, association with|Attention deficit hyperactivity disorder	COSMIC,ICGC,
chr2	162547842	162547842	T	G	intronic	SLC4A10	unknown	SNV	-	-	-	0.0240	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging	Schizophrenia  |Partial epilepsy and mental retardation|Mental retardation & muscular hypotonia|Mental retardation & generalised hypotonia|Epilepsy & mental retardation|Autism	ICGC,
chr2	26204488	26204488	C	T	exonic	KIF3C	nonsynonymous	SNV	0.0	1.0	-	-	-	-	-	-	-	-	COAD|1|367|0.00272,COADREAD|1|489|0.00204	-	-	-	normal phenotype	-	TCGA,
chr7	983591	983591	G	T	intronic	ADAP1	unknown	SNV	-	-	-	0.0225	rs76710067	-	0.0503195	-	0.036	-	-	LAML-KR|1|205|0.00488	-	-	-	-	ICGC,
chr8	50204466	50204466	T	C	intergenic	C8orf22,SNTG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-,-	-,Autism|Intellectual disability, cleft palate, hearing loss and dysmorphisms	ICGC,
chr18	48970107	48970107	-	GT	ncRNA_intronic	LOC100287225	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	-	-	ICGC,
chr1	83118335	83118335	C	T	intergenic	LPHN2,LINC01361	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,-	Schizophrenia,-	ICGC,
chr7	104786925	104786925	G	T	intronic	SRPK2	unknown	SNV	-	-	4.085e-06	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	mortality/aging	-	ICGC,
chr3	183975512	183975512	G	A	exonic	ECE2	nonsynonymous	SNV	0.309	0.965	-	-	-	-	-	-	-	COSM6847669	-	-	-	-	mortality/aging	-	COSMIC,COSMIC,
chr7	140453150	140453150	A	T	exonic	BRAF	nonsynonymous	SNV	0.001	0.999	-	-	rs121913341	-	-	-	-	COSM53198	-	-	Malignant_melanoma|not_provided	-	integument phenotype	Noonan syndrome / cardio-facio-cutaneous syndrome|Noonan syndrome|LEOPARD syndrome.|LEOPARD syndrome|Langerhans cell histiocytosis|Developmental encephalopathy with postnatal growth deficiency|Costello syndrome|CFC syndrome with muscular CoQ10 deficiency|Cardiomyopathy, hypertrophic|Cardio-facio-cutaneous syndrome with epileptic encephalopathy|Cardio-facio-cutaneous syndrome case with tight Achilles tendons.|Cardio-facio-cutaneous syndrome|	ClinVar,COSMIC,
chr10	17485138	17485138	G	C	intronic	ST8SIA6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	-	ICGC,
chr14	45539412	45539412	C	T	intronic	FAM179B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-	-	ICGC,
chr19	30420217	30420217	T	A	intronic	URI1	unknown	SNV	-	-	-	6.468e-05	rs573556596	-	0.000199681	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-	-	ICGC,
chr11	11690118	11690118	G	A	intergenic	MIR4299,MIR8070	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	215825006	215825006	-	A	intronic	USH2A	unknown	insertion	-	-	-	0.0040	rs200850767	-	-	-	-	COSN27276593	-	-	-	-	vision/eye phenotype	Retinitis pigmentosa?|Retinitis pigmentosa.|Sensorineural hearing loss, nonsyndromic  |Usher syndrome  |Usher syndrome 1  |Usher syndrome 2|Usher syndrome 2a|Usher syndrome 3 |Retinitis pigmentosa, recessive, no hearing loss|Retinitis pigmentosa, autosomal recessive.|Retinitis pigmentosa, autosomal recessive |Retinitis pigmentosa|Retinal degeneration|Hearing loss, early-childhood|Deafness, non-syndromic |Deafness  |Autism spectrum disorder|Autism	COSMIC,
chr8	102476243	102476243	A	T	intergenic	NACAP1,GRHL2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,Deafness, autosomal dominant	ICGC,
chr11	76960153	76960153	T	C	intronic	GDPD4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-	-	ICGC,
chr10	7098731	7098731	A	G	intergenic	LINC00707,SFMBT2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr11	2894304	2894304	GG	AA	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr4	20169692	20169692	T	A	intergenic	NONE,SLIT2	unknown	SNV	-	-	-	0.0219	rs78575934	-	0.884385	-	-	COSN17945050	-	PEME-CA|1|112|0.00893,SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,Schizophrenia  	COSMIC,ICGC,
chr6	84093339	84093339	G	A	intronic	ME1	unknown	SNV	-	-	-	3.24e-05	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	mortality/aging	-	ICGC,
chr8	58180510	58180510	A	G	intergenic	LOC286177,LINC00588	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr10	32775615	32775615	A	G	intronic	CCDC7	unknown	SNV	-	-	-	0.0103	rs377102462	-	-	-	-	COSN15901138	-	PACA-CA|1|268|0.00373	-	-	-	Potential protein deficiency	COSMIC,ICGC,
chr7	112946186	112946186	-	T	intergenic	LINC00998,PPP1R3A	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-,growth/size phenotype	-,Insulin resistance, association with|Insulin resistance|Glycemia variation, association with	ICGC,
chr3	1454413	1454413	T	A	intergenic	CNTN6,CNTN4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,nervous system phenotype	Intellectual disability  ,Spinocerebellar ataxia 16 |Features of 3p deletion syndrome|Autism spectrum disorder |Autism	ICGC,
chr3	135026386	135026386	C	T	intergenic	EPHB1,PPP2R3A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	vision/eye phenotype,-	-,-	ICGC,
chr2	89477335	89477335	G	A	intergenic	MIR4436A,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr8	126853264	126853264	G	A	intergenic	TRIB1,LINC00861	unknown	SNV	-	-	-	0.3641	rs4871645	-	0.326677	-	0.507	-	-	ESAD-UK|1|301|0.00332,SKCA-BR|1|100|0.01000	-	-	immune system phenotype,-	Coronary artery disease, increased risk, association with,-	ICGC,
chr2	240862631	240862631	C	G	intergenic	LOC150935,MIR4786	unknown	SNV	-	-	-	0.4824	rs10197872	-	0.449681	-	0.420	-	-	ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488	-	-	-,-	-,-	ICGC,
chr1	22816713	22816713	C	T	exonic	ZBTB40	nonsynonymous	SNV	0.0	0.995	-	-	-	-	-	-	-	COSM4483733	-	-	-	-	-	Intellectual disability  	COSMIC,
chr4	34493924	34493924	G	A	intergenic	NONE,ARAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr10	59683233	59683233	G	A	intergenic	MIR3924,IPMK	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,-	ICGC,
chr18	27513362	27513362	A	C	intergenic	CDH2,MIR302F	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	Reduced expression|Potential protein deficiency|Alzheimer disease  ,-	ICGC,
chr8	37009825	37009825	A	G	intergenic	KCNU1,LOC100507420	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-UK|1|140|0.00714	-	-	reproductive system phenotype,-	Schizophrenia  ,-	ICGC,
chr1	200140538	200140538	A	C	intronic	NR5A2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	-	ICGC,
chr19	17996097	17996097	G	A	intronic	SLC5A5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Iodide transport defect|Potential protein deficiency	ICGC,
chrX	109370550	109370550	G	A	intronic	TMEM164	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	OV-AU|1|93|0.01075	-	-	-	-	ICGC,
chr8	136234699	136234699	A	G	intergenic	MIR30D,LOC286094	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr3	63626281	63626281	T	A	intergenic	SYNPR,SNTN	unknown	SNV	-	-	-	0.0028	rs189314322	-	0.00279553	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	no phenotypic analysis,-	-,-	ICGC,
chr10	133068831	133068831	G	A	intronic	TCERG1L	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr12	72963591	72963591	C	T	intronic	TRHDE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|3|183|0.01639	-	-	no phenotypic analysis	-	ICGC,
chr3	46257927	46257927	G	A	intergenic	CCR1,CCR3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,hematopoietic system phenotype	Alzheimer's disease, association with,Impaired protein translocation|Aspirin-exacerbated respiratory disease, association with	ICGC,
chr3	98883083	98883083	G	A	intergenic	DCBLD2,MIR548G	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Anorectal malformation,-	ICGC,
chr16	16160815	16160815	G	T	intronic	ABCC1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22364526	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging	Reduced multidrug resistance|Lung cancer, increased risk in Chinese population, association with|Increased promoter activity|Increased multidrug response|Increased doxorubicin resistance|Improved outcome in aggressive-neuroblastoma patients, association with|Decreased estradiol 17beta-glucuronide transport|Cystic fibrosis, severity, association with|Anthracycline-induced cardiotoxicity|Altered subcellular localization	COSMIC,ICGC,
chr15	41299003	41299003	G	C	intronic	INO80	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21215495	-	BRCA-EU|1|569|0.00176	-	-	-	Schizophrenia	COSMIC,ICGC,
chr12	80877792	80877792	-	TTTTGTTT	intronic	PTPRQ	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	behavior/neurological phenotype	Deafness, non-syndromic |Hearing loss  |Nonsyndromic hearing impairment DFNB84	ICGC,
chr7	31747310	31747310	C	T	UTR3	PPP1R17	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	vision/eye phenotype	-	ICGC,
chr4	146830598	146830598	A	G	intronic	ZNF827	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1997201	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr15	54987819	54987819	T	C	intergenic	UNC13C,RSL24D1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,-	Developmental delay  ,-	ICGC,
chr5	166816404	166816404	T	G	intronic	TENM2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr21	32970456	32970456	A	G	intergenic	TIAM1,SOD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	cellular phenotype,mortality/aging	-,Motor neuron disease|Paraneoplastic motor neuron disease with anti-Ri antibodies|Parkinsonism, early-onset.|Reduced expression |REM behaviour disorder in amyotrophic lateral sclerosis.|Keratoconus|Facial onset sensory motor neuronopathy syndrome.|Facial diplegia, in amyotrophic lateral sclerosis|Amyotrophic lateral sclerosis|Amyotrophic lateral sclerosis and spinal muscular atrophy|Amyotrophic lateral sclerosis, atypical.|Amyotrophic lateral sclerosis, late onset, association with|Amyotrophic lateral sclerosis.	ICGC,
chr3	19758052	19758052	C	A	intergenic	KCNH8,EFHB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr14	38895127	38895127	C	T	intergenic	CLEC14A,LINC00639	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr8	32070950	32070950	G	A	intronic	NRG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Sudden cardiac death, association with|Schizophrenia, association with  |Schizophrenia in African Americans, association with|Prepulse inhibition, association with|Perceptual aberration of schizotypal personality, association with|Increased lateral ventricle volume in schizophrenia|Hirschsprung disease|Developmental delay, hypotonia & microcephaly|Alzheimers disease, association with	ICGC,
chr7	38440095	38440095	T	A	intronic	AMPH	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	mortality/aging	-	ICGC,
chr7	61519991	61519991	C	G	intergenic	NONE,ZNF733P	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9504463	-	OV-AU|1|93|0.01075	-	-	-,-	-,-	COSMIC,ICGC,
chr11	40407630	40407630	-	AAAT	intronic	LRRC4C	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|4|67|0.05970	-	-	-	-	ICGC,
chr7	23827048	23827048	C	T	intronic	STK31	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9982968	-	OV-AU|1|93|0.01075	-	-	-	-	COSMIC,ICGC,
chr9	139995571	139995571	A	G	exonic	MAN1B1	nonsynonymous	SNV	0.001	1.0	-	-	-	-	-	-	-	COSM6361221	-	THCA-CN|1|50|0.02000	-	-	-	Congenital disorder of glycosylation  |End-stage liver disease, early onset, association with|Intellectual disability, nonsyndromic, autosomal recessive	COSMIC,ICGC,
chr2	100750928	100750928	C	T	intronic	AFF3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	skeleton phenotype	Developmental delay  |Mesomelic dysplasia	ICGC,
chr7	90282349	90282349	T	C	intronic	CDK14	unknown	SNV	-	-	-	0.0555	rs17866846	-	0.0982428	-	0.022	-	-	LAML-KR|1|205|0.00488	-	-	-	Potential protein deficiency	ICGC,
chr2	233595846	233595846	-	G	intronic	GIGYF2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging	Parkinson disease |Variant did not segregate with PD	ICGC,
chr2	80966374	80966374	G	T	intergenic	CTNNA2,LOC100507201	unknown	SNV	-	-	-	0	-	-	-	-	-	COSN7994453	-	-	-	-	mortality/aging,-	Schizophrenia,-	COSMIC,
chr1	189128871	189128871	T	C	intergenic	NONE,BRINP3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	142472385	142472385	T	A	intronic	TRPC1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	cardiovascular system phenotype	-	ICGC,
chr10	126034969	126034969	T	G	intergenic	CHST15,OAT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	hematopoietic system phenotype,mortality/aging	-,Gyrate atrophy	ICGC,
chr10	10823516	10823516	G	A	intergenic	LOC101928322,SFTA1P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr2	193592728	193592728	G	A	intergenic	TMEFF2,PCGEM1	unknown	SNV	-	-	-	3.228e-05	-	-	-	-	-	-	-	UTCA-FR|1|20|0.05000,PBCA-DE|1|499|0.00200	-	-	mortality/aging,-	-,-	ICGC,
chr8	56299985	56299985	C	T	intronic	XKR4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	Glaucoma, primary congenital	ICGC,
chr13	66862366	66862366	T	-	intergenic	NONE,PCDH9	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr20	35037532	35037532	G	A	intronic	DLGAP4	unknown	SNV	-	-	-	0.0002	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chrX	115347302	115347302	G	T	intergenic	AGTR2,SLC6A14	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Reduced mRNA splicing efficiency|Preeclampsia, association with|Potential protein deficiency|Mental retardation, X-linked|Mental retardation, pervasive developmental disorder, and epilepsy |Left ventricular hypertrophy, association with|Increased glomerular filtration rate, in males|Higher left ventricle mass index in HCM, association,Obesity, association with	ICGC,
chr11	18367343	18367343	-	CTTTTTTTTTTT	intronic	GTF2H1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	Lung cancer, increased risk, association with |Rectal cancer risk, association with	ICGC,
chrX	78272966	78272966	T	C	intergenic	P2RY10,GPR174	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,Graves' disease, increased risk|Graves' disease 	ICGC,
chr4	16374063	16374063	T	A	intergenic	TAPT1-AS1,LDB2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LINC-JP|1|394|0.00254	-	-	-,normal phenotype	-,-	ICGC,
chr15	97387429	97387429	C	T	intergenic	SPATA8,LOC101927286	unknown	SNV	-	-	-	6.462e-05	rs746444160	-	-	-	-	-	-	PEME-CA|1|112|0.00893	-	-	-,-	Potential protein deficiency,-	ICGC,
chr12	78611248	78611248	-	T	intergenic	NAV3,SYT1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|2|71|0.02817	-	-	-,mortality/aging	-,-	ICGC,
chr15	94249913	94249913	G	A	intergenic	RGMA,LOC101927153	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN4763866	-	MALY-DE|1|241|0.00415	-	-	mortality/aging,-	Autism,-	COSMIC,ICGC,
chr4	165564657	165564657	C	A	ncRNA_intronic	MIR5684	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-	-	ICGC,
chr22	26808219	26808219	G	A	intergenic	SEZ6L,ASPHD2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,-	-,-	ICGC,
chr6	7408971	7408971	T	C	intronic	RIOK1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr5	64342683	64342683	C	A	intergenic	CWC27,ADAMTS6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,Schizophrenia	ICGC,
chr4	8825493	8825493	-	A	intergenic	CPZ,HMX1	unknown	insertion	-	-	-	0.0436	rs200022831	-	0.08127	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-,mortality/aging	Autism,Oculo-auricular syndrome	ICGC,
chr19	38022617	38022617	C	T	intronic	ZNF793	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr12	14217896	14217896	-	AAAAA	intergenic	GRIN2B,ATF7IP	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	mortality/aging,-	Mental retardation, behavioural anomalies & abnormal EEG|Potential protein deficiency|Schizophrenia, association with|Schizophrenia, association with.|West syndrome|Mental retardation with behavioural anomalies|Intellectual disability  |Huntington disease, earlier onset in females, association with|Focal epilepsy & intellectual disability|Autism spectrum disorder|Autism|Alzheimer disease, increased risk, association with,-	ICGC,
chr4	135918068	135918068	G	A	intergenic	PABPC4L,LINC00613	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	Autism spectrum disorder  ,-	ICGC,
chr4	109258638	109258638	A	T	intergenic	LEF1-AS1,RPL34-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17986180	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	COSMIC,ICGC,
chr5	63818365	63818365	C	T	intronic	RGS7BP	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	-	ICGC,
chr22	44906775	44906775	C	A	intergenic	LDOC1L,LINC00207	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr12	43419646	43419646	C	T	intergenic	LOC101927058,ADAMTS20	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,-	ICGC,
chr20	53209712	53209712	G	T	intronic	DOK5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27121197	-	ESAD-UK|1|301|0.00332	-	-	-	-	COSMIC,ICGC,
chr7	121927349	121927349	C	T	intergenic	AASS,FEZF1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	Hyperlysinaemia,-	ICGC,
chr2	150994625	150994625	C	A	intergenic	LOC101929231,RND3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,mortality/aging	-,-	ICGC,
chr14	59521573	59521573	C	T	intergenic	LOC102723742,DAAM1	unknown	SNV	-	-	-	6.459e-05	rs755907072	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Congenital heart defect  	ICGC,
chr7	135327621	135327630	TGTGTGTGTA	-	intronic	NUP205	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	-	ICGC,
chr16	23146859	23146859	C	T	intronic	USP31	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr2	150124916	150124916	-	A	intergenic	LYPD6B,LYPD6	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN22899057	-	-	-	-	-,-	-,Saccular intracranial aneurysm, association with	COSMIC,
chr8	97452664	97452664	C	A	intergenic	PTDSS1,SDC2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging,-	Lenz-Majewski syndrome,Systemic sclerosis, protection against, association with	ICGC,
chr5	148679077	148679077	G	C	exonic	AFAP1L1	nonsynonymous	SNV	0.002	0.961	-	-	-	-	-	-	-	-	LUAD|1|543|0.00184	-	-	-	-	-	TCGA,
chr16	6501830	6501830	C	A	intronic	RBFOX1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7267461	-	PACA-AU|1|391|0.00256	-	-	mortality/aging	Muscular and feet abnormalities|Mental retardation|Epilepsy, rolandic  |Epilepsy|Developmental delay, facial dysmorphism  |Developmental delay and transposition of the great arteries|Developmental delay and diplegia|Developmental delay and craniosynostosis|Developmental delay  |Cardiac defects|Cardiac abnormalities, micrognathia and scoliosis|Autism spectrum disorder|Autism|Attention deficit hyperactivity disorder 	COSMIC,ICGC,
chr10	19944591	19944591	C	T	intronic	MALRD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr8	78724546	78724546	T	G	intergenic	PEX2,PKIA	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19306805	-	CLLE-ES|1|510|0.00196	-	-	mortality/aging,normal phenotype	Zellweger syndrome|Refsum disease, infantile|Peroxisome biogenesis disorder|Cerebellar ataxia, autosomal recessive,-	COSMIC,ICGC,
chr3	98563215	98563215	-	ATT	intronic	DCBLD2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	Anorectal malformation	ICGC,
chr1	172774991	172774991	A	T	intergenic	FASLG,TNFSF18	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20941213	-	BRCA-EU|1|569|0.00176	-	-	integument phenotype,-	Systemic lupus erythematosus, susceptibility to|Systemic lupus erythematosus, association with|Sjoegren syndrome with enlarged exocrine glands|Nasopharyngeal carcinoma, increased risk|Laryngeal and hypopharyngeal squamous cell carcinoma, protection against, association with.|Cancer, susceptibility to|Cancer susceptibility, association with|Breast cancer, association with.|Autoimmune lymphoproliferative syndrome, type 1b|Autoimmune lymphoproliferative syndrome,Autism spectrum disorder	COSMIC,ICGC,
chr6	38531841	38531841	A	T	intronic	BTBD9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	Periodic limb movements in sleep, association 	ICGC,
chr12	101569057	101569057	G	A	intronic	SLC5A8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	digestive/alimentary phenotype	-	ICGC,
chr17	5087174	5087174	G	T	exonic	ZNF594	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM1384546	COAD|1|367|0.00272,COADREAD|1|489|0.00204	COAD-US|1|254|0.00394	-	-	-	Potential protein deficiency	COSMIC,TCGA,ICGC,
chr13	105065754	105065754	G	A	intergenic	MIR548AS,DAOA-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr10	115217512	115217512	G	A	intergenic	TCF7L2,HABP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Reduced activity|Impaired islet function and morphology|Glaucoma, primary congenital|Diaphragmatic hernia, congenital |Diabetes, type 2, association with|Diabetes, latent autoimmune, susceptibility,Carotid stenosis, association with|Stroke, increased risk|Venous thrombosis, increased risk, association with	ICGC,
chr1	104441368	104441368	A	G	intergenic	AMY1A,LOC100129138	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	Obesity, increased risk,-	ICGC,
chr15	65347496	65347496	C	T	exonic	RASL12	nonsynonymous	SNV	0.002	1.0	4.126e-06	-	rs766728217	9.481e-06	-	-	-	COSM1722595	-	-	-	-	-	-	COSMIC,COSMIC,
chr10	114198126	114198126	T	C	exonic	ZDHHC6	nonsynonymous	SNV	0.292	0.018	-	-	-	-	-	-	-	COSM5817142	-	LICA-CN|1|402|0.00249	-	-	-	-	COSMIC,ICGC,
chr6	111231637	111231637	C	T	intergenic	AMD1,GTF3C6	unknown	SNV	-	-	-	3.247e-05	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Developmental delay   |Autism spectrum disorder,-	ICGC,
chr20	55931482	55931482	G	T	ncRNA_intronic	MIR5095	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21144466	-	BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr2	137813786	137813786	C	T	intronic	THSD7B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Autism spectrum disorder	ICGC,
chr15	50859998	50859998	G	A	intronic	TRPM7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Autism|Magnesium, altered sensitivity to, association with	ICGC,
chr5	10936823	10936823	T	C	intergenic	DAP,CTNND2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,behavior/neurological phenotype	-,Schizophrenia  |Lennox-Gastaut syndrome |Autism spectrum disorder|Anorectal malformation|Altered localisation	ICGC,
chr2	182640378	182640378	A	G	intergenic	NEUROD1,SSFA2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,integument phenotype	Potential protein deficiency|Diabetes, type 2, early-onset |Diabetes, permanent neonatal|Diabetes, MODY|Diabetes mellitus, type 2, association with|Diabetes mellitus, type 2|Diabetes mellitus, type 1, association with,-	ICGC,
chr20	59969624	59969624	G	T	intronic	CDH4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	cellular phenotype	Reduced expression	ICGC,
chr4	44222447	44222447	G	A	intronic	KCTD8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr3	96282782	96282782	G	A	intergenic	MIR8060,EPHA6	unknown	SNV	-	-	-	3.242e-05	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,behavior/neurological phenotype	-,Alzheimer disease  	ICGC,
chr16	13440611	13440611	C	T	intergenic	SHISA9,ERCC4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN4764538	-	MALY-DE|1|241|0.00415	-	-	-,mortality/aging	-,Xeroderma pigmentosum (F)|Progeroid syndrome|Potential protein deficiency|Lung cancer, susceptibility to|Fanconi anaemia|Combined xeroderma pigmentosum, cockayne syndrome and fanconi anaemia|Cockayne syndrome|Breast cancer  |Breast and/or ovarian cancer|Bladder cancer, increased risk, association with	COSMIC,ICGC,
chr14	107030219	107030219	C	T	intergenic	LINC00221,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,-	-,-	ICGC,
chr7	119070312	119070312	G	A	intergenic	ANKRD7,KCND2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Epilepsy, temporal lobe	ICGC,
chr12	104395978	104395978	C	T	intronic	GLT8D2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	immune system phenotype	-	ICGC,
chr5	38837761	38837761	G	A	ncRNA_intronic	OSMR-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr7	93268963	93268963	C	T	intergenic	CALCR,MIR4652	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,-	Lower lumbar bone mineral density, association,-	ICGC,
chr7	116403512	116403512	A	G	intronic	MET	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Papillary renal carcinoma|Lymphoedema |Gastric cancer|Diffuse large B-cell lymphoma |Cortical thickness, association with|Colorectal cancer  |Autism, association with|Autism spectrum disorder	ICGC,
chr9	135996187	135996187	C	T	intronic	RALGDS	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9701978	-	OV-AU|1|93|0.01075	-	-	homeostasis/metabolism phenotype	Intellectual disability  	COSMIC,COSMIC,ICGC,
chr9	32071168	32071168	C	T	intergenic	LINC01242,ACO1	unknown	SNV	-	-	-	-	rs558495156	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,Schizophrenia	ICGC,
chr22	20907690	20907690	A	G	intronic	MED15	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr4	69561909	69561909	T	C	intergenic	UGT2B15,UGT2B10	unknown	SNV	-	-	-	3.236e-05	rs780324132	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Reduced oxazepam clearance, association with|Prostate cancer, association with|Lower activity, association with|Increased gene expression|Fat mass, association with|Altered gene expression in liver,Autism|Lower nicotine consumption in smokers|Potential protein deficiency|Reduced enzyme activity	ICGC,
chr9	97039010	97039010	C	T	intronic	ZNF169	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr4	163691204	163691204	C	T	intergenic	FSTL5,NAF1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|8|183|0.04372	-	-	-,-	Schizophrenia  |Rolandic epilepsy ,-	ICGC,
chr13	35449556	35449556	G	T	intergenic	LINC00457,NBEA	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6227067	-	LIRI-JP|1|258|0.00388	-	-	-,integument phenotype	-,Autism, idiopathic|Schizophrenia|Tetralogy of Fallot	COSMIC,ICGC,
chr1	247822269	247822269	C	T	intergenic	OR2G3,OR13G1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-,-	-,Myocardial infarction, association with	ICGC,
chr17	38241430	38241430	C	T	intronic	THRA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BOCA-UK|1|130|0.00769	-	-	integument phenotype	Hypothyroidism|Thyroid hormone resistance	ICGC,
chr8	120793333	120793333	G	A	exonic	TAF2	nonsynonymous	SNV	0.39	0.298	-	-	-	-	-	-	-	COSM5345490	-	-	-	-	-	Intellectual disability  |Microcephaly, thin corpus callosum, ID syndrome	COSMIC,COSMIC,
chr14	19121273	19121273	C	T	intergenic	NONE,OR11H12	unknown	SNV	-	-	-	0	-	-	-	-	-	-	-	LAML-KR|2|205|0.00976	-	-	-,-	-,-	ICGC,
chr2	191301982	191301982	G	A	exonic	MFSD6	synonymous	SNV	-	-	1.624e-05	6.458e-05	rs755379156	2.471e-05	-	-	-	COSM1014117	UCEC|2|248|0.00806	UCEC-US|2|250|0.00800	-	-	-	-	COSMIC,TCGA,ICGC,
chr9	98248067	98248067	G	A	exonic	PTCH1	nonsynonymous	SNV	0.111	0.712	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Multiple self-healing squamous epithelioma, modifer of|Nevoid basal cell carcinoma syndrome|Nevoid basal cell carcinoma syndrome features, pulmonary valve stenosis & mental retardation|Odontogenic keratocysts|Ossification of posterior longitudinal ligament|Short stature, intellectual disability & facial dysmorphism|Skin cancer, association with|Multiple basal cell carcinoma |Microcephaly and developmental delay  |Keratocystic odontogenic tumours, non-syndromic|Keratocystic odontogenic tumours|Holoprosencephaly|Gorlin-syndrome-related odontogenic keratocysts|Gorlin syndrome and autism|Gorlin syndrome|Congenital heart disease |Basal cell carcinoma	ICGC,
chr14	91087097	91087097	G	A	intronic	TTC7B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	-	ICGC,
chr11	57000925	57000925	C	T	downstream	APLNR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Brain infarction, association with	ICGC,
chr18	4793380	4793380	G	-	intergenic	DLGAP1,C18orf42	unknown	deletion	-	-	-	-	-	-	-	-	-	COSN19472249	-	-	-	-	-,-	Schizophrenia  ,-	COSMIC,
chr17	45924119	45924119	C	T	UTR3	SP6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	-	ICGC,
chr12	106710560	106710560	C	T	intronic	TCP11L2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Schizophrenia	ICGC,
chr10	111652826	111652826	T	C	exonic	XPNPEP1	nonsynonymous	SNV	0.0	1.0	-	-	-	-	-	-	-	COSM5428749	-	ESCA-CN|1|332|0.00301	-	-	-	-	COSMIC,COSMIC,ICGC,
chr5	53692701	53692701	-	T	intergenic	ARL15,HSPB3	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373,LIRI-JP|1|258|0.00388	-	-	-,-	-,Motor neuropathy	ICGC,
chr10	76815013	76815013	A	G	intronic	DUPD1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7068654	-	PACA-AU|1|391|0.00256	-	-	-	-	COSMIC,ICGC,
chr14	22166376	22166376	A	G	intergenic	OR4E2,DAD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,-	ICGC,
chr13	61002771	61002771	-	AAGT	intronic	TDRD3	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|3|67|0.04478	-	-	-	-	ICGC,
chr3	19924060	19924060	C	A	exonic	EFHB	nonsynonymous	SNV	0.074	0.977	-	-	-	-	-	-	-	COSM4116569	STAD|1|395|0.00253,STES|1|395|0.00253	STAD-US|1|289|0.00346	-	-	-	-	COSMIC,COSMIC,TCGA,ICGC,
chr13	50202948	50202948	C	T	intronic	ARL11	unknown	SNV	-	-	-	0.0058	rs74452499	-	0.0091853	-	0.014	-	-	LAML-KR|1|205|0.00488	-	-	-	Cancer, association with|Ovarian cancer risk|Prostate cancer, increased risk, association with	ICGC,
chr6	2401506	2401506	C	T	ncRNA_intronic	GMDS-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr13	46334391	46334391	T	C	intergenic	SPERT,SIAH3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Autism spectrum disorder,-	ICGC,
chr11	56184063	56184070	GGTTTGTT	-	downstream	OR5R1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	-	ICGC,
chr1	57986024	57986024	T	A	intronic	DAB1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Syndromic cleft lip & palate	ICGC,
chr12	49333604	49333604	C	T	intronic	ARF3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26643741	-	LICA-CN|1|402|0.00249	-	-	-	-	COSMIC,ICGC,
chr9	28537509	28537509	T	A	intronic	LINGO2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CN|1|65|0.01538	-	-	-	Autism spectrum disorder  |Developmental delay with absent speech	ICGC,
chr5	170986612	170986612	T	A	intergenic	FGF18,SMIM23	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21075610	-	BRCA-EU|1|569|0.00176	-	-	integument phenotype,-	-,-	COSMIC,ICGC,
chr10	85782748	85782748	A	G	intergenic	NRG3,GHITM	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15675364	-	LIRI-JP|1|258|0.00388	-	-	integument phenotype,-	Schizophrenia, association with |Increased ventrolateral PFC activation|Hirschsprung disease  ,-	COSMIC,ICGC,
chr2	77244885	77244885	G	T	intronic	LRRTM4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1855382	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chrX	50108643	50108643	G	A	UTR3	DGKK	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr6	56360995	56360995	C	T	ncRNA_intronic	RNU6-71P	unknown	SNV	-	-	-	0.3784	rs6904202	-	0.426318	-	0.399	-	-	LAML-KR|1|205|0.00488	-	-	-	-	ICGC,
chr8	4495555	4495555	G	A	intronic	CSMD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-	Schizophrenia, association with |Hyperinsulinism|Autism|Attention deficit hyperactivity disorder 	ICGC,
chr17	69240375	69240375	C	T	intergenic	CASC17,LOC102723505	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6549171	-	PBCA-DE|1|499|0.00200	-	-	-,-	-,-	COSMIC,ICGC,
chr7	115511850	115511850	C	-	intergenic	LINC01393,TFEC	unknown	deletion	-	-	-	0.0004	rs66777352	-	-	-	-	COSN27227350	-	BTCA-SG|12|71|0.16901	-	-	-,integument phenotype	-,-	COSMIC,COSMIC,COSMIC,COSMIC,COSMIC,COSMIC,COSMIC,COSMIC,COSMIC,COSMIC,ICGC,
chr13	80268283	80268283	T	C	intergenic	NDFIP2,LINC00382	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr1	241218647	241218647	T	G	intronic	RGS7	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24905724	-	LICA-FR|1|252|0.00397	-	-	mortality/aging	Intellectual disability  |Autism spectrum disorder  	COSMIC,ICGC,
chr4	98012101	98012101	G	A	intergenic	PDHA2,STPG2-AS1	unknown	SNV	-	-	-	0.0002	rs181179309	-	0.000399361	-	-	COSN25889563	-	ESAD-UK|1|301|0.00332,EOPC-DE|1|202|0.00495	-	-	-,-	-,-	COSMIC,ICGC,
chr9	80775813	80775813	C	T	intergenic	GNAQ,CEP78	unknown	SNV	-	-	-	3.23e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Potential protein deficiency|Increased promoter activity, association with|Developmental delay  |Decreased transcription|Decreased insulin resistance and BMI in PCOS, association with|Cardiac hypertrophy,-	ICGC,
chr13	72867806	72867806	G	-	intergenic	DACH1,MZT1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Renal hypodysplasia,-	ICGC,
chr12	94238128	94238128	A	C	intronic	CRADD	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN4733378	-	MALY-DE|1|241|0.00415	-	-	mortality/aging	Mental retardation, non-syndromic 	COSMIC,ICGC,
chr4	58171745	58171745	G	T	intergenic	IGFBP7-AS1,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN14961661	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	COSMIC,ICGC,
chr9	16832723	16832723	-	T	intronic	BNC2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	mortality/aging	Total anomalous pulmonary venous return |Partial anomalous pulmonary venous return |Hypospadias & partial anomalous pulmonary venous return |Hypospadias 	ICGC,
chr1	207276401	207276401	C	T	intergenic	C4BPB,C4BPA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,Reduced expression|Pregnancy loss, recurrent|Haemolytic uraemic syndrome, atypical, association with|Altered cofactor function	ICGC,
chr5	106833587	106833587	G	A	intronic	EFNA5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	-	ICGC,
chr2	88730926	88730926	C	T	intergenic	THNSL2,FOXI3	unknown	SNV	-	-	-	0.0002	rs549665332	-	-	-	-	COSN14843609	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	COSMIC,ICGC,
chr7	56401204	56401204	G	A	intergenic	NUPR1L,LOC650226	unknown	SNV	-	-	-	3.228e-05	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr8	106309096	106309096	T	C	intergenic	LRP12,ZFPM2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,integument phenotype	-,Atrial septal defect & gonadal dysgenesis|Diaphragmatic hernia, congenital|Double outlet right ventricle |Gonadal dysgenesis |Reduced activity|Tetralogy of Fallot 	ICGC,
chr6	100214044	100214044	C	A	intergenic	PRDM13,MCHR2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15787554	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr14	29069341	29069341	G	T	intergenic	LINC00645,FOXG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	OV-AU|1|93|0.01075	-	-	-,integument phenotype	-,West syndrome |Rett-like syndrome|Rett syndrome|Refractory epilepsy & intellectual impairment|Microcephaly, mental retardation & thin genu of corpus callosum|Mental retardation, speech impairment & epilepsy|Mental retardation & speech impairment|Mental retardation & postnatal microcephaly|Mental retardation & callosum abnormalities|Mental retardation|Infantile spasms|Hemifacial microsomia|Generalized dystonia, athetosis and parkinsonism|Developmental delay, microcephaly & hypoplasia of the corpus callosum|Developmental delay, hypotonia, microcephaly & infantile spasms|Developmental delay & slow head growth|Agenesis of corpus callosum	ICGC,
chr2	66211139	66211139	C	T	intergenic	SPRED2,MIR4778	unknown	SNV	-	-	-	0.0004	rs147261078	-	0.00339457	-	-	-	-	LAML-KR|1|205|0.00488	-	-	hematopoietic system phenotype,-	Childhood apraxia of speech,-	ICGC,
chr11	83785968	83785968	G	A	intronic	DLG2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7288261	-	PACA-AU|1|391|0.00256	-	-	integument phenotype	Schizophrenia and epilepsy|Myopathy  |Intellectual disability, autism and epilepsy|Hypochondriasis|Dysmorphic features & speech delay|Developmental delay and dysmorphic features|Developmental delay  	COSMIC,ICGC,
chr7	153379252	153379252	C	T	intergenic	ACTR3B,DPP6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,nervous system phenotype	-,Autism spectrum disorder  |Schizophrenia  |Ventricular fibrillation, idiopathic 	ICGC,
chr14	91254851	91254851	G	A	intronic	TTC7B	unknown	SNV	-	-	-	3.233e-05	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr2	133584851	133584851	A	G	ncRNA_intronic	MIR7853	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-	-	ICGC,
chr5	176314064	176314064	C	A	exonic	HK3	nonsynonymous	SNV	0.004	0.999	-	-	-	-	-	-	-	COSM1543171	LUAD|1|543|0.00184	-	-	-	-	-	COSMIC,COSMIC,TCGA,
chr5	168054719	168054719	T	C	intergenic	PANK3,SLIT3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,mortality/aging	-,Schizophrenia  |Major depressive disorder |Autism spectrum disorder	ICGC,
chr4	102160647	102160647	G	C	intronic	PPP3CA	unknown	SNV	-	-	-	-	rs529113126	-	0.00199681	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	-	ICGC,
chr3	6974638	6974638	C	T	intronic	GRM7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	mortality/aging	Schizophrenia, association with  |Autism |Attention deficit hyperactivity disorder	ICGC,
chr1	77276544	77276544	T	C	intergenic	ST6GALNAC3,ST6GALNAC5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,Coronary artery disease  	ICGC,
chr12	109983059	109983059	G	T	intergenic	UBE3B,MMAB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	integument phenotype,-	Autism|Blepharophimosis-ptosis-intellectual-disability syndrome|Kaufman oculocerebrofacial syndrome,Methylmalonic aciduria, cblB type|Methylmalonic aciduria and metabolic ketoacidosis|Methylmalonic aciduria	ICGC,
chr19	55992845	55992845	C	T	exonic	ZNF628	unknown	SNV	-	-	-	-	-	-	-	-	-	COSM6831891	-	-	-	-	-	-	COSMIC,COSMIC,COSMIC,
chr3	152882243	152882243	G	T	UTR3	RAP2B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26636718	-	LICA-CN|3|402|0.00746	-	-	-	-	COSMIC,ICGC,
chr1	225320058	225320058	C	T	intronic	DNAH14	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Potential protein deficiency	ICGC,
chr3	80669443	80669443	T	C	intergenic	ROBO1,GBE1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,mortality/aging	Developmental dyslexia ,Potential protein deficiency|Polyglucosan body disease, relapsing-remitting form|Polyglucosan body disease, adult|Lethal multiple pterygium syndrome|Glycogen storage disease 4, non-lethal neuromuscular|Glycogen storage disease 4, neonatal|Glycogen storage disease 4|Autism spectrum disorder|Adult polyglucosan body disease	ICGC,
chr2	124996670	124996670	G	A	intronic	CNTNAP5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Autism	ICGC,
chr10	96466699	96466699	C	T	exonic	CYP2C18	synonymous	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	Autism spectrum disorder|Null allele	ICGC,
chr8	84532229	84532229	G	A	intergenic	LINC01419,RALYL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr9	89189558	89189558	G	A	intergenic	ZCCHC6,GAS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Holoprosencephaly-like phenotype |Holoprosencephaly	ICGC,
chr4	148087775	148087775	C	T	intergenic	TTC29,EDNRA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Reduced pulmonary function, in cystic fibrosis, association with|Myocardial infarction|Migraine, association with|Intracranial aneurysm, increased risk, association with|Hypertension, protection against, association with |Hernia, diaphragmatic |Congenital absence of the vas deferens, association with|Breast cancer, susceptibility to, association with|Adrenal hyperplasia, macronodular, ACTH-independent	ICGC,
chr11	39593000	39593000	C	T	intergenic	LOC101928536,LRRC4C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr8	10231095	10231095	C	T	intronic	MSRA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	-	ICGC,
chr4	33669845	33669845	A	G	intergenic	NONE,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23615866	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr21	9849740	9849740	G	T	intergenic	MIR3687-1,TEKT4P2	unknown	SNV	-	-	-	-	rs75849695	-	-	-	-	COSN16169157	-	-	-	-	-,-	-,-	COSMIC,
chr3	139133697	139133697	G	A	ncRNA_intronic	LOC100507291	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1916580	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr4	68928898	68928898	G	T	ncRNA_exonic	LOC550113,SYT14P1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22687768	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr2	80102308	80102308	G	A	intronic	CTNNA2	unknown	SNV	-	-	-	0.2289	rs6707690	-	0.164337	-	0.261	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Schizophrenia	ICGC,
chr12	129921630	129921630	C	T	intronic	TMEM132D	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	Panic disorder  	ICGC,
chr12	74773515	74773515	G	A	intergenic	LOC100507377,ATXN7L3B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9755353	-	RECA-EU|1|422|0.00237	-	-	-,-	-,-	COSMIC,ICGC,
chr3	158580594	158580594	G	T	intergenic	MFSD1,IQCJ	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22937651	-	PAEN-IT|1|37|0.02703	-	-	-,-	-,-	COSMIC,COSMIC,ICGC,
chr13	53237180	53237180	G	T	intronic	SUGT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr3	89065512	89065512	C	T	intergenic	C3orf38,EPHA3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Oligozoospermia|Schizophrenia    |Sertoli-cell-only syndrome	ICGC,
chr11	80474316	80474316	G	A	upstream	LOC101928944	unknown	SNV	-	-	-	-	rs550656225	-	-	-	-	COSN21369715	-	BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr14	53479699	53479699	-	TTTT	intergenic	FERMT2,DDHD1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|2|67|0.02985	-	-	mortality/aging,-	-,Spastic paraplegia  	ICGC,
chr14	97449926	97449926	G	A	intergenic	LINC00618,LOC101929241	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8463151	-	OV-AU|1|93|0.01075	-	-	-,-	-,-	COSMIC,ICGC,
chr7	41800957	41800957	A	G	ncRNA_intronic	INHBA-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr19	15642318	15642318	C	T	intronic	CYP4F22	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-	Lamellar ichthyosis with hyperlinearity of palms & soles|Lamellar ichthyosis  |Ichthyosis, congenital, autosomal recessive	ICGC,
chr13	102126813	102126813	C	A	intronic	ITGBL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	-	ICGC,
chrX	37028443	37028443	C	A	exonic	FAM47C	nonsynonymous	SNV	0.226	0.983	-	-	-	-	-	-	-	-	LUAD|1|543|0.00184	-	-	-	-	-	TCGA,
chr3	75682457	75682457	C	T	intergenic	MIR1324,FLJ20518	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1281023	-	-	-	-	-,-	-,-	COSMIC,
chr12	90209046	90209046	G	A	intergenic	LINC00936,LINC00615	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr20	34795019	34795019	C	T	intronic	EPB41L1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-JP|1|585|0.00171	-	-	nervous system phenotype	Autism spectrum disorder|Intellectual disability, nonsyndromic|Schizophrenia	ICGC,
chr6	76220428	76220428	C	A	intergenic	FILIP1,SENP6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,mortality/aging	Schizophrenia  ,-	ICGC,
chr3	146932087	146932087	-	T	intergenic	PLSCR5,ZIC4	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	-,mortality/aging	-,-	ICGC,
chr15	93496860	93496860	T	C	intronic	CHD2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5757751	-	LINC-JP|1|394|0.00254	-	-	integument phenotype	Scoliosis |Lennox-Gastaut syndrome |Intellectual disability, nonsyndromic|Epilepsy, developmental delay, autism & facial dysmorphism|Dravet syndrome-like myoclonic epileptic encephalopathy|Developmental delay, intellectual disability & epilepsy|Autism spectrum disorder|Autism	COSMIC,COSMIC,ICGC,
chr4	119793741	119793741	G	A	intronic	SYNPO2	unknown	SNV	-	-	-	0.0004	rs775526795	-	-	-	-	COSN1286110	-	LINC-JP|1|394|0.00254,PBCA-DE|1|499|0.00200	-	-	-	-	COSMIC,ICGC,
chr12	118684671	118684671	T	C	intronic	TAOK3	unknown	SNV	-	-	-	0	-	-	-	-	-	-	-	LAML-KR|1|205|0.00488	-	-	-	-	ICGC,
chr14	94964291	94964291	A	G	exonic	SERPINA12	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM959195	UCEC|1|248|0.00403	UCEC-US|1|250|0.00400	-	-	-	Reduced circulating vaspin concentrations	COSMIC,TCGA,ICGC,
chr7	153718850	153718850	A	T	intronic	DPP6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	nervous system phenotype	Autism spectrum disorder  |Schizophrenia  |Ventricular fibrillation, idiopathic 	ICGC,
chr5	13821141	13821141	T	G	intronic	DNAH5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	mortality/aging	Asthenozoospermia |Autism |Chronic rhinosinusitis and primary ciliary dyskinesia|Potential protein deficiency|Primary ciliary dyskinesia	ICGC,
chr6	35189366	35189366	C	T	intronic	SCUBE3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	normal phenotype	-	ICGC,
chr6	119411189	119411189	T	A	intronic	FAM184A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr4	4208412	4208412	T	A	intronic	OTOP1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26953167	-	UTCA-FR|1|20|0.05000	-	-	behavior/neurological phenotype	-	COSMIC,COSMIC,COSMIC,ICGC,
chr16	83220729	83220729	C	A	intronic	CDH13	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	mortality/aging	Higher adiponectin levels|Amyotrophic lateral sclerosis 	ICGC,
chr8	54325977	54325977	C	T	intergenic	OPRK1,ATP6V1H	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype,-	Alcohol dependence, association with|Opiate addiction, association with ,Schizophrenia  	ICGC,
chr10	11803468	11803468	G	A	intronic	ECHDC3	unknown	SNV	-	-	-	0.6728	rs10795888	-	0.642971	-	0.601	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr19	9764066	9764066	T	G	exonic	ZNF562	nonsynonymous	SNV	0.002	0.989	-	-	-	-	-	-	-	COSM265064	COADREAD|1|489|0.00204,READ|1|122|0.00820	-	-	-	-	-	COSMIC,COSMIC,TCGA,
chr5	41395189	41395189	C	T	intronic	PLCXD3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr20	40668721	40668721	C	-	intergenic	CHD6,PTPRT	unknown	deletion	-	-	-	0.0003	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332,PACA-CA|2|268|0.00746,MALY-DE|1|241|0.00415	-	-	behavior/neurological phenotype,homeostasis/metabolism phenotype	Mental retardation with brachydactyly of toes,Intellectual disability, behavioural problems, microcephaly & cardiac defect|Attention deficit hyperactivity disorder 	ICGC,
chr18	1752966	1752966	C	T	intergenic	LINC00470,METTL4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr21	28441808	28441808	T	C	intergenic	ADAMTS5,MIR5009	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	integument phenotype,-	-,-	ICGC,
chr14	66501126	66501126	G	A	intergenic	FUT8,LINC00238	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Pulmonary emphysema, association with,-	ICGC,
chr9	78673421	78673421	G	A	intronic	PCSK5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging	Low HDL cholesterol	ICGC,
chr10	49831441	49831441	A	C	intronic	ARHGAP22	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17388060	-	ESAD-UK|2|301|0.00664	-	-	-	-	COSMIC,ICGC,
chr3	134278117	134278117	G	A	exonic	CEP63	nonsynonymous	SNV	0.21	0.72	-	-	-	-	-	-	-	-	GBMLGG|1|820|0.00122,LGG|1|530|0.00189	-	-	-	-	Microcephaly, primary, autosomal recessive  	TCGA,
chr4	77420186	77420186	G	T	intronic	SHROOM3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	mortality/aging	Heterotaxy |Leukemia, risk, association with 	ICGC,
chr3	129049270	129049270	G	A	intergenic	H1FX-AS1,RPL32P3	unknown	SNV	-	-	-	6.463e-05	-	-	-	-	-	COSN22695874	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr5	131768841	131768841	C	G	ncRNA_intronic	C5orf56	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr5	126206210	126206210	G	T	UTR3	MARCH3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr6	151751594	151751594	A	C	intronic	RMND1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	Encephalopathy  |Encephaloneuromyopathy, infantile	ICGC,
chr5	167444766	167444766	-	T	intronic	TENM2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-	-	ICGC,
chr6	149541507	149541507	C	T	intronic	TAB2	unknown	SNV	-	-	-	-	rs571191254	-	0.000199681	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Congenital heart defects  	ICGC,
chr5	27643257	27643257	G	A	intergenic	LINC01021,LSP1P3	unknown	SNV	-	-	-	0.0002	rs190301136	-	0.000998403	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr13	87262442	87262442	C	G	intergenic	SLITRK6,MIR4500HG	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15250810	-	ESAD-UK|1|301|0.00332	-	-	behavior/neurological phenotype,-	High myopia and sensorineural deafness,-	COSMIC,ICGC,
chr6	68568777	68568777	T	G	intergenic	SLC25A51P1,BAI3	unknown	SNV	-	-	-	6.475e-05	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr4	96749212	96749212	A	G	intergenic	UNC5C,PDHA2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	mortality/aging,-	Colorectal cancer  |Reduced proapoptotic activity,-	ICGC,
chr3	28874148	28874148	A	-	intergenic	LINC00693,RBMS3-AS3	unknown	deletion	-	-	-	-	-	-	-	-	-	COSN22877768	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr19	14687915	14687915	T	G	intergenic	NDUFB7,CLEC17A	unknown	SNV	-	-	-	0.0226	rs79977947	-	-	-	-	COSN22513591	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr9	17526901	17526901	G	A	intergenic	CNTLN,SH3GL2	unknown	SNV	-	-	-	-	rs116920487	-	-	-	-	-	-	OV-AU|1|93|0.01075	-	-	-,-	-,-	ICGC,
chr6	68166699	68166699	A	C	intergenic	SLC25A51P1,BAI3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26626980	-	LICA-CN|1|402|0.00249	-	-	-,-	-,-	COSMIC,ICGC,
chr1	11345718	11345718	G	A	exonic	UBIAD1	nonsynonymous	SNV	0.026	0.168	1.219e-05	-	rs749579209	1.648e-05	-	-	-	COSM242158	PRAD|1|499|0.00200	PRAD-US|1|256|0.00391	-	-	-	Central discoid corneal dystrophy|Schnyder crystalline corneal dystrophy	COSMIC,TCGA,ICGC,
chr10	26149191	26149191	A	G	intergenic	LINC00836,LOC101929073	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr9	33052116	33052119	AAAT	-	intronic	SMU1	unknown	deletion	-	-	-	9.701e-05	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-	-	ICGC,
chr2	40400332	40400332	A	G	ncRNA_intronic	SLC8A1-AS1	unknown	SNV	-	-	-	0.4412	rs17503184	-	0.334065	-	0.297	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr1	168127891	168127891	G	A	intergenic	GPR161,TIPRL	unknown	SNV	-	-	-	3.941e-05	rs554456764	-	0.000199681	-	-	COSN7183157	-	PACA-AU|1|391|0.00256	-	-	integument phenotype,-	-,-	COSMIC,ICGC,
chrX	137462406	137462406	C	T	intergenic	ZIC3,LINC00889	unknown	SNV	-	-	-	0.0018	rs762094026	-	0.000794702	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging,-	Situs abnormality|Heterotaxy|Congenital heart disease |Cardiac malformation,-	ICGC,
chr5	20417942	20417942	G	A	intronic	CDH18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Anorectal malformation	ICGC,
chrX	29366398	29366398	G	C	intronic	IL1RAPL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	nervous system phenotype	Mental retardation, X-linked|Mental retardation with dysmorphic features|Mental retardation and autism|Intellectual disability, X-linked with dysmorphism|Intellectual disability, X-linked|Intellectual disability, dysmorphic signs, deafness & behavioural problems|Intellectual disability & behavioural problems|Developmental delay, learning disability & microcephaly|Autism spectrum disorder  |Asperger syndrome	ICGC,
chr12	78877516	78877516	C	T	intergenic	NAV3,SYT1	unknown	SNV	-	-	-	0.0001	rs183865487	-	0.000399361	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,mortality/aging	-,-	ICGC,
chr14	65325301	65325301	G	A	intergenic	SPTB,CHURC1-FNTB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,-	Spherocytosis|Spectrin variant|Hydrops fetalis|Elliptocytosis,-	ICGC,
chr18	52959950	52959950	C	T	intronic	TCF4	unknown	SNV	-	-	-	0.0001	-	-	-	-	-	COSN24651978	-	GACA-CN|1|123|0.00813	-	-	mortality/aging	Rett syndrome, variant / Pitt-Hopkins syndrome|Pitt-Hopkins syndrome|Mental retardation and microcephaly|Mental retardation & facial anomalies|Intellectual disability, nonsyndromic|Intellectual disability and dysmorphisms|Intellectual disability|Fuchs endothelial corneal dystrophy, susceptibility to |Angelman syndrome	COSMIC,ICGC,
chr18	4310751	4310751	T	C	intronic	DLGAP1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15296611	-	ESAD-UK|1|301|0.00332	-	-	-	Schizophrenia  	COSMIC,ICGC,
chr16	4853159	4853159	C	G	downstream	ROGDI	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8500381	-	OV-AU|1|93|0.01075	-	-	-	Kohlschütter-Tönz syndrome	COSMIC,COSMIC,ICGC,
chr13	103040806	103040806	G	A	ncRNA_intronic	FGF14-IT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr3	130185322	130185322	C	T	intronic	COL6A5	unknown	SNV	-	-	-	3.244e-05	rs766949875	-	-	-	-	COSN21411811	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	-	Atopic dermatitis, association with	COSMIC,COSMIC,ICGC,
chr6	74038927	74038927	T	G	intergenic	C6orf147,DPPA5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,normal phenotype	-,-	ICGC,
chr20	52780555	52780555	A	G	intronic	CYP24A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Reduced gene expression|Reduced enzyme activity|Nephrolithiasis.|Hypercalciuric nephrolithiasis and nephrocalcinosis.|Hypercalciuric nephrolithiasis and nephrocalcinosis|Hypercalciuria and recurrent nephrolithiasis.|Hypercalcaemia, increased risk|Hypercalcaemia, idiopathic infantile|Hypercalcaemia, hypercalciuria & elevated calcitriol concentrations|Hypercalcaemia and hypercalciuria	ICGC,
chr15	23217661	23217661	G	A	intergenic	WHAMMP3,GOLGA8I	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BOCA-UK|1|130|0.00769	-	-	-,-	-,-	ICGC,
chr18	37473352	37473352	C	T	intergenic	LINC00669,LOC101927900	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr12	115958255	115958255	C	T	intergenic	TBX3,MED13L	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Ulnar-mammary syndrome,Intellectual disability, nonsyndromic, no cardiac involvement|Hypotonia, learning difficulties & perimembranous ventricular septal defect|Hypotonia, intellectual disability, conotruncal heart defect & facial anomalies|Congenital heart defect|Colorectal cancer, increased risk, association with |Autism	ICGC,
chr10	117802577	117802577	C	T	intergenic	ATRNL1,GFRA1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,integument phenotype	Cognitive impairment, autism & dysmorphic features ,Urinary tract malformation|Hirschsprung disease |Central hypoventilation syndrome 	ICGC,
chr1	206932431	206932431	G	T	intergenic	MAPKAPK2,IL10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	mortality/aging,integument phenotype	Lung cancer, increased risk, association with|Nasopharyngeal carcinoma, EBV associated, increased risk,Protection against malarial anaemia, association with|Parthenium dermatitis, association with|Paranoid schizophrenia, increased risk, association with|Nontuberculous mycobacterial cervicofacial lymphadenitis, protection, association|Mantle cell lymphoma, association with|Lumbar disc degeneration, susceptibility to|Low IL-10 production, association with|Longevity, in men, association with|Leprosy, association with|Leprosy susceptibility, association with|Ischaemic stroke, early progression, association with|Ischaemic stroke, association with.|Inflammatory bowel disease.|Reduced IL10 secretion in Crohn's disease|Reduced survival, in melanoma patients with advanced disease, association with.|Reflux esophagitis, association with|Wegener granulomatosis, association with|Venous thrombosis, association with|Upper respiratory infection, decreased risk|Ulcerative colitis, association with |Type 2 diabetes|Tuberculosis, pulmonary and extrapulmonary, susceptibility to, association|Tuberculosis, pleural, association with|Tuberculosis susceptibility, association with|Systemic lupus erythematosus, protection against, association with|Systemic lupus erythematosus, association with|Severe malaria, protection against|Sepsis, susceptibility to, association with|Res distress syndrome, association with|Inflammatory bowel disease severity and location, association with|Inflammatory bowel disease  |Infant colitis |Chronic periodontitis, association with|Chronic lymphocytic leukaemia, higher overall survival rate|Chagas disease cardiomyopathy, association with|Cancer, reduced risk, association with.|Behcet's disease, association with |Autoantibody production and joint damage, association with|Aortic stenosis, association with|ANCA-negative Churg-Strauss syndrome, association|Altered promoter activity|Advanced liver disease in drinkers, association|Acute liver failure, in hepatitis B carriers, association with|Acute liver failure, in hepatitis B carriers, association|Acute coronary syndrome, association with.|Diabetes, type 1, association with|Diabetes, type 2, association with|Diffuse large B-cell lymphoma, association with|Increased risk of cervical cancer, association with|HIV-1 infection, association with|Higher IL-10 plasma levels, association with|Helicobacter pylori positive gastric cancer, association with|HCV related liver disease progression, association with|Gastric cancer, reduced risk|Febrile seizures|Familial lymphoid malignancies, association with|Enterovirus 71 encephalitis, association with.|Enterocolitis, early-onset.|Endometriosis, reduced risk, association with|Endometriosis, increased risk, association with|Endometriosis, association with	ICGC,
chr3	125764197	125764197	-	AA	intronic	SLC41A3	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	behavior/neurological phenotype	-	ICGC,
chr11	80852519	80852519	G	A	intergenic	LOC101928944,LOC101928989	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	221081757	221081757	C	T	intergenic	MIR4268,EPHA4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,reproductive system phenotype	-,Amyotrophic lateral sclerosis, reduced disease severity	ICGC,
chr13	69073369	69073369	C	T	intergenic	PCDH9,LINC00550	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr7	98134390	98134390	C	T	intergenic	BAIAP2L1,NPTX2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,vision/eye phenotype	-,-	ICGC,
chr4	168905645	168905645	-	T	intergenic	SPOCK3,ANXA10	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	ICGC,
chr18	32316077	32316077	G	C	intronic	DTNA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging	Left ventricular noncompaction with CHD	ICGC,
chr13	97297315	97297315	G	A	intronic	HS6ST3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|2|183|0.01093	-	-	-	-	ICGC,
chr3	22386054	22386054	G	A	intergenic	ZNF385D-AS2,UBE2E2	unknown	SNV	-	-	-	3.283e-05	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr11	22280696	22280696	G	-	intronic	ANO5	unknown	deletion	-	-	-	-	-	-	-	-	-	COSN22834820	-	BRCA-EU|1|569|0.00176	-	-	-	Persistent asymptomatic hyperCKemia|Myopathy of posterior calf muscles, late-onset|Myopathy / muscular dystrophy|Myopathy  |Muscular dystrophy, limb girdle 2L.|Muscular dystrophy, limb girdle 2L|Muscular dystrophy  |Miyoshi-like distal myopathy|Miyoshi myopathy, non-dysferlin|Miyoshi distal myopathy.|Miyoshi distal myopathy|Gnathodiaphyseal dysplasia|Autism 	COSMIC,ICGC,
chr15	97835955	97835955	G	A	intergenic	SPATA8,LOC101927286	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Potential protein deficiency,-	ICGC,
chr12	97257350	97257350	G	A	intergenic	CDK17,NEDD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,-	-,-	ICGC,
chr19	38056450	38056450	G	A	exonic	ZNF571	nonsynonymous	SNV	0.042	0.993	4.08e-06	-	rs765566517	8.275e-06	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	-	ICGC,
chr9	106949450	106949450	T	C	intergenic	SMC2,OR13F1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5694391	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr17	4456917	4456917	C	A	intronic	MYBBP1A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN18996029	-	CLLE-ES|1|510|0.00196	-	-	-	Autism spectrum disorder  |Pulmonary tuberculosis, association  with	COSMIC,ICGC,
chr12	81343818	81343818	C	T	intergenic	LIN7A,ACSS3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5328879	-	MELA-AU|1|183|0.00546,LIRI-JP|1|258|0.00388	-	-	mortality/aging,-	Intellectual disability in 12q21 deletion syndrome,-	COSMIC,ICGC,
chr11	81782633	81782633	G	A	ncRNA_intronic	LOC101928989	unknown	SNV	-	-	-	6.479e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr5	143650104	143650104	T	A	intronic	KCTD16	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-	-	ICGC,
chr4	144486367	144486367	G	A	intergenic	GUSBP5,FREM3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25905182	-	EOPC-DE|1|202|0.00495	-	-	-,-	-,Autism 	COSMIC,ICGC,
chrX	34149583	34149583	C	T	exonic	FAM47A	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM3561318	SKCM|1|368|0.00272	SKCM-US|1|335|0.00299	-	-	-	-	COSMIC,TCGA,ICGC,
chr12	95596169	95596169	-	ATAAAATAAAA	intronic	FGD6	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|2|67|0.02985	-	-	-	-	ICGC,
chr1	161457416	161457416	A	G	intergenic	C1orf192,FCGR2A	unknown	SNV	-	-	-	0.0709	rs11582349	-	0.0399361	-	0.058	-	-	PBCA-DE|1|499|0.00200	-	-	normal phenotype,mortality/aging	-,Kawasaki disease, susceptibility to|Lupus nephritis, protection against, association|Potential protein deficiency|Rheumatoid arthritis, association with|Severe falciparum malaria|Severe sepsis in community-acquired pneumonia, association with|Still's disease, chronic articular-type, association|Ulcerative colitis, association with|Unstable angina pectoris, association with|Kawasaki disease, association with.|Inflammatory bowel disease, association with|Infectious diseases, association with|Acute coronary syndromes, association with|Anaphylaxis, in hypogammaglobulinaemia, association with|Colorectal cancer progression, association with|Coronary heart disease, association with|Idiopathic pulmonary fibrosis severity and progression, association with|Immunoglobulin binding variant|Improved endothelial function in hypercholesterolaemia, association with|Increased risk of inhibitor development in haemophilia A patients, association with|Increased signal transduction activity	ICGC,
chr5	81640459	81640459	C	T	intergenic	ATP6AP1L,MIR3977	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr7	115666227	115666227	C	T	intronic	TFEC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	integument phenotype	-	ICGC,
chr3	68218147	68218147	T	G	intronic	FAM19A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	-	ICGC,
chr12	20958527	20958527	A	G	intergenic	SLCO1C1,SLCO1B3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	reproductive system phenotype,mortality/aging	Autism,Rotor syndrome|Decreased protein expression|Altered substrate specificity	ICGC,
chr12	61315049	61315049	G	A	intergenic	SLC16A7,FAM19A2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Autism spectrum disorder,-	ICGC,
chr13	83552461	83552461	C	T	intergenic	NONE,SLITRK1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,Trichotillomania|Tourette syndrome|Obsessive-compulsive disorder |Attention deficit hyperactivity disorder 	ICGC,
chr7	40299716	40299716	T	G	intronic	SUGCT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr7	86413887	86413887	A	G	intronic	GRM3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	behavior/neurological phenotype	Schizophrenia, association with|Major depressive disorder, association with	ICGC,
chr5	105468283	105468283	-	T	intergenic	RAB9BP1,LOC102467213	unknown	insertion	-	-	-	0.0001	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-,-	-,-	ICGC,
chr5	26988300	26988300	C	G	exonic	CDH9	nonsynonymous	SNV	0.497	0.0	-	-	-	-	-	-	-	COSM4788361	-	LICA-FR|1|252|0.00397	-	-	-	-	COSMIC,ICGC,
chr6	6789298	6789298	C	T	intergenic	LY86,RREB1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	hematopoietic system phenotype,-	-,Dysmorphism	ICGC,
chr3	84265519	84265519	A	G	intergenic	NONE,LINC00971	unknown	SNV	-	-	-	0.1668	rs11925447	-	0.142173	-	0.116	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr2	172510371	172510371	C	T	intergenic	CYBRD1,DYNC1I2	unknown	SNV	-	-	-	3.231e-05	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	homeostasis/metabolism phenotype,mortality/aging	Haemochromatosis, phenotype modifier, association with|Iron overload,-	ICGC,
chr7	118056950	118056950	G	A	intergenic	ANKRD7,KCND2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7954230	-	PACA-AU|1|391|0.00256	-	-	-,integument phenotype	-,Epilepsy, temporal lobe	COSMIC,ICGC,
chr6	54593524	54593524	A	-	intergenic	TINAG,FAM83B	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	PACA-AU|1|391|0.00256	-	-	-,-	Chronic renal failure, childhood-onset,-	ICGC,
chr3	121734501	121734501	C	T	intronic	ILDR1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-	Hearing impairment, autosomal recessive |Hearing loss, non-syndromic|Hearing loss, non-syndromic, autosomal recessive  	ICGC,
chr2	146714286	146714286	C	A	intergenic	TEX41,PABPC1P2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	ICGC,
chr4	169065766	169065766	G	A	intronic	ANXA10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr10	130578408	130578408	C	T	intergenic	LINC01163,MGMT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,MGMT methylation in malignant pleural mesothelioma, association with|Non-Hodgkin lymphoma, increased risk|Pancreatic cancer, increased risk, association with|Promoter methylation and longer survival in glioblastoma patients, association with|Promoter methylation in colorectal cancer |MGMT methylation in lung cancer, increased risk, association with|MGMT methylation in colorectal cancer, association with|Lung cancer, risk, association with|Glioblastoma, reduced risk, association with |Endometrial cancer risk, association with|Cervical carcinoma, increased risk, association with|Cancer, increased risk|Altered enzyme activity	ICGC,
chr2	194554609	194554609	G	A	intergenic	PCGEM1,LOC101927406	unknown	SNV	-	-	-	6.487e-05	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr19	22364851	22364851	G	A	intronic	ZNF676	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr1	1159336	1159336	G	T	exonic	SDF4	nonsynonymous	SNV	0.005	0.897	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr21	35370808	35370808	G	A	intergenic	LINC00649,MRPS6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr17	74473347	74473347	C	G	exonic	RHBDF2	nonsynonymous	SNV	0.007	0.999	-	-	-	-	-	-	-	COSM3820644	BRCA|1|982|0.00102	BRCA-US|1|955|0.00105	-	-	mortality/aging	Tylosis oesophageal cancer	COSMIC,TCGA,ICGC,
chrX	74966967	74967002	GCCGCCGCCGCCGCCGCTGCTGCCGCTGCCGCTTCC	-	intergenic	TTC3P1,MAGEE2	unknown	deletion	-	-	-	6.562e-05	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,Potential protein deficiency	ICGC,
chr14	96730571	96730571	G	C	exonic	BDKRB1	synonymous	SNV	-	-	-	-	-	-	-	-	-	-	HNSC|1|512|0.00195	-	-	-	integument phenotype	-	TCGA,
chr3	35593637	35593637	C	T	intergenic	LOC101928135,ARPP21	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,nervous system phenotype	-,-	ICGC,
chr10	67190942	67190942	G	A	intergenic	ANXA2P3,LOC101928913	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr8	119468762	119468762	C	T	intronic	SAMD12	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|3|183|0.01639	-	-	-	-	ICGC,
chr12	54756503	54756503	C	T	exonic	GPR84	nonsynonymous	SNV	0.006	0.086	0.0001	0.0002	rs137983696	6.601e-05	-	0.0002	-	COSM1933797	-	COAD-US|1|254|0.00394	-	-	immune system phenotype	-	COSMIC,ICGC,
chr1	168262521	168262521	-	GT	intronic	TBX19	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|3|71|0.04225	-	-	integument phenotype	ACTH deficiency, isolated	ICGC,
chr8	58110381	58110381	-	T	intergenic	IMPAD1,LOC100507651	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN27892164	-	-	-	-	mortality/aging,-	Catel-Manzke-like syndrome|Chondrodysplasia & abnormal joint development,-	COSMIC,
chr3	60406440	60406440	C	T	intronic	FHIT	unknown	SNV	-	-	-	3.234e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	-	ICGC,
chr18	12177602	12177602	C	T	intergenic	ANKRD62,C18orf61	unknown	SNV	-	-	-	3.236e-05	rs371633226	-	-	-	-	COSN7458815	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	COSMIC,ICGC,
chr13	54830091	54830091	G	T	intergenic	LINC00458,MIR1297	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16779282	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	COSMIC,ICGC,
chr1	233912929	233912929	C	T	intergenic	KCNK1,SLC35F3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	homeostasis/metabolism phenotype,-	-,-	ICGC,
chr4	40372614	40372614	C	T	intergenic	CHRNA9,RBM47	unknown	SNV	-	-	-	0.0004	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	hematopoietic system phenotype,-	Increased bronchial cell proliferation and transformation,-	ICGC,
chr1	186992074	186992074	-	AAAAA	intergenic	PLA2G4A,NONE	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	mortality/aging,-	Asthma, association with|Cryptogenic multifocal ulcerating stenosing enteritis|Increased enzyme activity|Prostanoid biosynthesis deficiency,-	ICGC,
chrX	149131759	149131759	G	C	ncRNA_intronic	LINC00894	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7514315	-	PACA-AU|1|391|0.00256	-	-	-	-	COSMIC,ICGC,
chr3	97095134	97095134	C	T	intronic	EPHA6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	behavior/neurological phenotype	Alzheimer disease  	ICGC,
chr3	99108339	99108339	C	T	intergenic	DCBLD2,MIR548G	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Anorectal malformation,-	ICGC,
chr3	36485960	36485960	C	A	intronic	STAC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-	-	ICGC,
chr2	231446621	231446621	G	A	intergenic	SP100,LOC151475	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	Altered p53 binding,-	ICGC,
chr10	127794230	127794230	T	C	intronic	ADAM12	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	mortality/aging	Osteoarthritis in males, association with	ICGC,
chr9	85249291	85249291	G	T	intergenic	SPATA31D1,RASEF	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17260534	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	COSMIC,ICGC,
chr8	19780629	19780629	A	G	intergenic	INTS10,LPL	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25062339	-	MALY-DE|1|241|0.00415	-	-	-,integument phenotype	-,Triglceride levels, association with|Lower triglyceride level, association with|Lower plasma triglyceride level, association with|Lower plasma triglyceride level|Low HDL cholesterol|Lipoprotein lipase deficiency, partial|Lipoprotein lipase deficiency, association with|Lipoprotein lipase deficiency|Ischemic stroke, protection against, association with|Metabolic syndrome and lipid levels, association with|Metabolic syndrome, protection against, in Kazakh and Han ethnicities, association with.|Myocardial infarction in type 2 diabetes, association with|Triacylglycerol and HDL levels, association with|Small and dense LDL in Familial Combined Hyperlipidemia, association with|Reduced promoter activity|Reduced HDL level in atherosclerosis, association|Reduced expression|Protection against coronary heart disease|Partial deficiency in LPL activity|Ovarian cancer, association with.|Increased HDL cholesterol, association with|Increased cardiovascular risk|Decreased HDL cholesterol and increased triglyceride levels|Coronary heart disease risk, association with|Chylomicronemia|Chylomicronaemia|Cerebral infarction protection, association with|Carotid artery calcification, association|Calcification and steatorrhea in hyperlipidemic pancreatitis|ApoE4 dependent CAD risk|Altered serum carotenoid concentrations, association with|Dyslipidaemia, association with|Hypercholesterolaemia ?|Increased adiponectin levels, association with|Hypertriglyceridaemia.|Hypertriglyceridaemia & pancreatitis|Hypertriglyceridaemia ?|Hypertriglyceridaemia |Hypertension-induced left ventricular hypertrophy and CHD risk|Hypertension susceptibility, association with|Hyperlipidaemia, association with|Hyperlipidaemia	COSMIC,ICGC,
chr4	60490233	60490233	A	C	intergenic	NONE,LPHN3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23267621	-	MALY-DE|1|241|0.00415	-	-	-,behavior/neurological phenotype	-,-	COSMIC,ICGC,
chr8	49397603	49397603	G	C	intergenic	UBE2V2,LOC101929268	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	RECA-EU|1|422|0.00237	-	-	-,-	-,-	ICGC,
chr19	32656427	32656427	C	T	intergenic	LOC101927411,ZNF507	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr7	35471455	35471455	C	T	intergenic	LOC401324,HERPUD2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|3|183|0.01639	-	-	-,-	-,-	ICGC,
chr4	140027057	140027057	G	A	intronic	ELF2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr21	9651106	9651106	G	A	intergenic	NONE,MIR3648-1	unknown	SNV	-	-	-	-	rs772598953	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr13	73141285	73141285	C	T	intergenic	DACH1,MZT1	unknown	SNV	-	-	-	0.0001	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,-	Renal hypodysplasia,-	ICGC,
chr10	126560576	126560576	A	C	intergenic	FAM175B,ZRANB1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-UK|1|140|0.00714	-	-	-,-	-,-	ICGC,
chr5	105909589	105909589	G	A	intergenic	RAB9BP1,LOC102467213	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN18898157	-	-	-	-	-,-	-,-	COSMIC,
chr9	141012499	141012499	C	A	exonic	CACNA1B	nonsynonymous	SNV	0.055	0.988	-	-	-	-	-	-	-	COSM1107235	UCEC|1|248|0.00403	UCEC-US|1|250|0.00400	-	-	integument phenotype	Schizophrenia  |Asperger syndrome	COSMIC,TCGA,ICGC,
chr14	49094897	49094897	C	T	intergenic	LINC00648,RPS29	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LAML-KR|1|205|0.00488	-	-	-,-	-,-	ICGC,
chr5	23769016	23769016	-	CTCTT	intergenic	PRDM9,CDH10	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|2|67|0.02985	-	-	reproductive system phenotype,-	Altered meiotic recombination hotspot usage|Azoospermia by meiotic arrest, association with |Azoospermia, non-obstructive ,-	ICGC,
chr8	85154649	85154649	G	T	intronic	RALYL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chrX	66467599	66467599	C	T	intergenic	EDA2R,AR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	normal phenotype,integument phenotype	Hypohidrotic ectodermal dysplasia|Mental retardation, X-linked ,Infertility, idiopathic|Infertility, male|Premature ovarian failure |Primary amenorrhea|Prostate cancer |Prostate cancer, increased risk, association|Pseudohermaphroditism, male|Reifenstein syndrome|Spino-bulbar muscular atrophy (Kennedy disease)|Testicular dysgenesis syndrome|Urothelial carcinoma, association with|Uterine leiomyomas, association with|Very late onset of muscle weakness|Visceral adiposity and hypertension|Hypospadias.|Hypospadias, increased risk|Hypospadias|46,XY complete androgen insensitivity|Alzheimer disease, association with|Androgen insensitivity syndrome|Androgen insensitivity syndrome & Leydig cell hyperplasia|Androgen insensitivity syndrome, partial|Androgen insensitivity syndrome, partial.|Androgenetic alopecia, reduced risk, association with|Autism spectrum disorder, in females, association with|Autism spectrum disorder, protection against, in males, association with|Azoospermia, hypergonadotropic |Breast cancer, male|Defective spermatogenesis|Disorder of sex development  |Endometriosis, association with   	ICGC,
chr21	38891469	38891469	C	T	intergenic	DYRK1A,KCNJ6	unknown	SNV	-	-	-	3.23e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,mortality/aging	Retinal alterations in Down syndrome|Psychomotor delay & behavioural problems|Microcephaly and developmental delay  |Microcephaly|Mental retardation & primary microcephaly|Intellectual disability, microcephaly, delayed language & seizures|Intellectual disability, microcephaly & epilepsy|Facial gestalt of Down syndrome|Dysmorphic features, intellectual disability and generalized epilepsy|Autism,Increased opioid requirements, association with|Increased postoperative analgesic requirements, association with	ICGC,
chr18	61077585	61077585	-	T	exonic	VPS4B	frameshift	insertion	-	-	-	-	-	-	-	-	-	COSM6820685	-	-	-	-	-	-	COSMIC,
chr18	65743203	65743203	A	G	intergenic	LOC643542,TMX3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24679154	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	COSMIC,ICGC,
chr18	56761653	56761653	C	T	intergenic	OACYLP,SEC11C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr10	72430344	72430344	T	C	intergenic	PRF1,ADAMTS14	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,-	Haemophagocytic lymphohistiocytosis, familial |Immune-mediated neurodegeneration triggered by infection|Multiple sclerosis |NK/T-Cell Lymphoma, association with|Non-Hodgkin lymphoma  |Non-immune hydrops fetalis.|Perforin deficiency |Haemophagocytic lymphohistiocytosis|Diabetes, type 1 |Diabetes association|Anaplastic large cell lymphoma|Anaplastic large cell lymphoma, childhood.|Arthritis, juvenile|Arthritis, juvenile.|Childhood acute lymphoblastic leukemia, association with|Chronic active Epstein-Barr virus infection|Cytophagic histiocytic panniculitis ,-	ICGC,
chr11	96184330	96184330	C	T	ncRNA_intronic	JRKL-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chrX	118818912	118818912	A	G	intronic	SEPT6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	normal phenotype	-	ICGC,
chr11	7400755	7400755	C	T	intronic	SYT9	unknown	SNV	-	-	-	0.4107	rs7947307	-	0.485024	-	0.457	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr11	102624358	102624358	C	T	intergenic	MMP8,MMP10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	immune system phenotype,respiratory system phenotype	Preterm premature rupture of membranes, association |Potential protein deficiency|Autism,Leukemia, risk, association with 	ICGC,
chr10	103970151	103970151	C	T	intergenic	NOLC1,ELOVL3	unknown	SNV	-	-	-	3.233e-05	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,integument phenotype	-,-	ICGC,
chr11	71165402	71165402	C	A	intronic	NADSYN1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19493893	-	-	-	-	-	-	COSMIC,
chr1	6796364	6796364	-	TT	intergenic	LOC100505887,CAMTA1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,Ataxia, non-progressive congenital|Developmental delay & learning disability|Impaired episodic memory performance, association with	ICGC,
chr4	136943528	136943528	C	T	intergenic	LINC00613,PCDH18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ORCA-IN|1|178|0.00562	-	-	-,-	-,Intellectual disability  	ICGC,
chr18	74962541	74962541	G	A	exonic	GALR1	nonsynonymous	SNV	0.214	0.217	7.087e-06	-	-	-	-	-	-	COSM4757594	-	GACA-JP|1|585|0.00171	-	-	behavior/neurological phenotype	Growth hormone insufficiency	COSMIC,ICGC,
chr7	155381035	155381035	T	G	intergenic	CNPY1,RBM33	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	EOPC-DE|1|202|0.00495	-	-	-,-	-,-	ICGC,
chr4	36752291	36752291	G	C	intergenic	DTHD1,MIR4801	unknown	SNV	-	-	-	-	rs563835532	-	0.000199681	-	-	COSN2027233	-	LIRI-JP|1|258|0.00388	-	-	-,-	Leber congenital amaurosis with myopathy,-	COSMIC,ICGC,
chr5	165368178	165368178	G	A	intergenic	LOC102546299,CTB-7E3.1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr2	31378313	31378313	CC	TT	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr7	80264605	80264605	-	GTTT	intronic	CD36	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|7|67|0.10448	-	-	mortality/aging	Severe malaria, protection against, association with|Metabolic syndrome, reduced risk, association with |Metabolic syndrome, protection against, association with|Malaria, cerebral, reduced risk, association|Lower platelet count, association with|Increased HDL level, association with |higher malaria incidence|High-density lipoprotein cholesterol levels, association with.|Decreased serum free FA, association with |Coronary artery disease, association with|CD36 deficiency	ICGC,
chr2	59554368	59554368	C	T	intergenic	LOC101927285,MIR4432	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	239418915	239418915	C	T	intergenic	LINC01139,CHRM3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,vision/eye phenotype	-,Autistic disorder|Bladder malformation|Diabetes, type 2, increased risk, association |Tetralogy of Fallot	ICGC,
chr2	121985001	121985001	T	C	intronic	TFCP2L1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging	-	ICGC,
chr4	4292352	4292352	T	C	intronic	ZBTB49	unknown	SNV	-	-	-	0.8496	rs920685	-	0.817292	-	0.826	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr11	131447031	131447031	T	G	intronic	NTM	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	Aortic aneurysm, thoracic & intracranial|Potential protein deficiency	ICGC,
chr10	91774907	91774907	G	A	intergenic	LINC01375,LOC101926942	unknown	SNV	-	-	-	0.0005	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr10	84324828	84324828	T	A	intronic	NRG3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	integument phenotype	Schizophrenia, association with |Increased ventrolateral PFC activation|Hirschsprung disease  	ICGC,
chr4	37180402	37180402	G	T	intergenic	DTHD1,MIR4801	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	Leber congenital amaurosis with myopathy,-	ICGC,
chr7	70174044	70174044	C	T	intronic	AUTS2	unknown	SNV	-	-	-	0.2628	rs28664154	-	0.375	-	0.348	-	-	ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488	-	-	-	Speech & language disorder, tonic-clonic movements & pes planus|Myoclonic epilepsy, juvenile |Mental retardation|Intellectual disability, syndromic  |Epilepsy, nonlesional |Developmental delay, intellectual disability, short stature, ptosis & dysmorphism|Developmental delay  |Autism spectrum disorder  |Autism	ICGC,
chr5	29177110	29177110	C	T	intergenic	LOC101929645,LOC101929681	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr6	145119167	145119167	-	T	intronic	UTRN	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	GACA-JP|1|585|0.00171	-	-	mortality/aging	Arthrogryposis |Schizophrenia	ICGC,
chr6	104686583	104686583	G	A	intergenic	NONE,HACE1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-,tumorigenesis	-,Wilms tumour 	ICGC,
chr14	29397798	29397798	G	A	intergenic	C14orf23,MIR548AI	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr14	55587989	55587989	G	A	intergenic	MAPK1IP1L,LGALS3	unknown	SNV	-	-	-	3.229e-05	-	-	-	-	-	COSN8155167	-	PACA-CA|1|268|0.00373	-	-	-,integument phenotype	-,Rheumatoid arthritis, susceptibility, association|Prostate cancer, reduced risk|Breast cancer, increased risk, association with	COSMIC,ICGC,
chr8	13150229	13150229	A	C	intronic	DLC1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9255714	-	RECA-EU|1|422|0.00237	-	-	mortality/aging	Congenital heart disease 	COSMIC,ICGC,
chr14	39030333	39030333	G	A	intergenic	CLEC14A,LINC00639	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	173946023	173946023	A	C	intronic	RC3H1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-AU|1|391|0.00256	-	-	mortality/aging	-	ICGC,
chr1	162915471	162915471	G	A	intergenic	C1orf110,RGS4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,integument phenotype	-,-	ICGC,
chr8	109770270	109770270	C	T	intergenic	EMC2,TMEM74	unknown	SNV	-	-	-	3.239e-05	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr2	24154857	24154857	G	A	intergenic	ATAD2B,UBXN2A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	reproductive system phenotype,-	-,-	ICGC,
chr5	42548261	42548261	G	T	intronic	GHR	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19310191	-	CLLE-ES|1|510|0.00196	-	-	mortality/aging	Small birth size and early pubertal onset, in boys, association|Short stature|Reduction in pro-aging signalling, cancer & diabetes, association|Reduced birth and placental weight, association with.|Obesity, association with|Mandibular height, association with|Lung cancer, susceptibility to, association with|Lower recombinant GH dosage in GH deficiency, association with|Laron dwarfism|Altered HDL cholesterol level in hypercholesterolaemia|Colonic polyps and osteoarthritis, in acromegaly, association with|Elevated serum levels of growth hormone-binding protein|Growth hormone insensitivity|IGF-I levels, association with|Increased insulin secretion, association with|Inhibitory effect on mandibular growth in young children, association with	COSMIC,ICGC,
chr17	27927954	27927954	T	A	intronic	ANKRD13B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr18	50901494	50901494	G	A	intronic	DCC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging	Altered p53 transactivation|Colorectal cancer, risk, association with |Mirror movements, congenital	ICGC,
chr5	168463259	168463259	C	T	ncRNA_exonic	CTB-174D11.1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23179060	-	MALY-DE|1|241|0.00415	-	-	-	-	COSMIC,ICGC,
chr11	18729021	18729021	G	A	intronic	IGSF22	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22099626	-	BRCA-EU|1|569|0.00176	-	-	-	Schizophrenia	COSMIC,ICGC,
chr13	86628757	86628757	G	A	intergenic	SLITRK6,MIR4500HG	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,-	High myopia and sensorineural deafness,-	ICGC,
chr4	167225251	167225251	C	T	intergenic	TLL1,SPOCK3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Hyperinsulinism|Atrial septal defect  ,-	ICGC,
chr4	58259860	58259860	C	T	intergenic	IGFBP7-AS1,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr21	18079089	18079089	T	G	intergenic	LINC00478,C21orf37	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-,-	-,-	ICGC,
chr22	48629864	48629864	G	T	intergenic	LOC284930,MIR3201	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr12	113209022	113209022	T	C	intergenic	PTPN11,RPH3A	unknown	SNV	-	-	-	0.4915	rs10774659	-	0.572284	-	0.681	-	-	LAML-KR|1|205|0.00488	-	-	integument phenotype,normal phenotype	Noonan syndrome with malignant mastocytsosis|Noonan syndrome with lymphocytic leukaemia / basal cell carcinoma|Noonan syndrome with juvenile myelomonocytic leukaemia|Noonan syndrome with dysembryoplastic neuro-epithelial tumour|Noonan syndrome with ductal breast cancer|Noonan syndrome with colorectal cancer / epithelioid angiosarcoma|Noonan syndrome with multifocal ductal breast cancer|Noonan syndrome with multiple giant cell lesions|Noonan syndrome with neuroblastoma|Noonan syndrome with non-Hodgkin lymphoma|Noonan syndrome with oligodendroglioma|Potential protein deficiency|Severe neonatal hypertrophic cardiomyopathy, in Noonan syndrome|Thrombocytopaenia and Noonan syndrome.|Visual loss, cranial fibrous dysplasia, aneurysmal bone cyst|Noonan syndrome with acute lymphoblastic / juvenile myelomonocytic leukaemia|Noonan syndrome|Acute lymphoblastic leukaemia|Atrioventricular septal defect|Behcet's disease |Cardiomyopathy, hypertrophic.|Congenital heart defect & Noonan syndrome|Giant cell lesions in Noonan syndrome|Glioma  |LEOPARD syndrome|LEOPARD Syndrome.|Neurofibromatosis-Noonan syndrome|Myelomonocytic leukaemia, juvenile|ML / LEOPARD syndrome|Metachondrochromatosis|Medulloblastoma|Leukaemia, juvenile myelomonocitic,-	ICGC,
chr3	64754999	64754999	C	T	ncRNA_intronic	ADAMTS9-AS2,MIR548A2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr14	54346443	54346443	C	G	intergenic	LOC101927620,MIR5580	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	ICGC,
chr2	29410538	29410538	G	A	intergenic	CLIP4,ALK	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,Medulloblastoma |Neuroblastoma	ICGC,
chr13	84466708	84466708	C	A	intergenic	SLITRK1,LINC00333	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	RECA-EU|1|422|0.00237	-	-	mortality/aging,-	Trichotillomania|Tourette syndrome|Obsessive-compulsive disorder |Attention deficit hyperactivity disorder ,-	ICGC,
chr10	50622512	50622512	G	A	intergenic	DRGX,ERCC6	unknown	SNV	-	-	-	0.0674	rs66735192	-	0.0597045	-	0.072	-	-	ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488	-	-	-,integument phenotype	-,UV-sensitive syndrome|Reduced chromosomal damage in coke oven workers, association with|Macular degeneration, age-related, association with|Lung cancer, reduced risk, association with|Colorectal cancer, increased risk, association with|Cockayne syndrome type II|Cockayne syndrome ?|Cockayne syndrome|Cerebro-oculo-facio-skeletal syndrome|Bladder cancer, increased risk, association with	ICGC,
chr7	61754135	61754135	G	A	intergenic	NONE,ZNF733P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	220132810	220132810	T	-	ncRNA_intronic	RNU5F-1	unknown	deletion	-	-	-	-	-	-	-	-	-	COSN28073713	-	PRAD-CA|1|308|0.00325	-	-	-	-	COSMIC,COSMIC,COSMIC,ICGC,
chr19	47840919	47840919	A	-	intronic	C5AR2	unknown	deletion	-	-	-	0.0003	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	mortality/aging	-	ICGC,
chr1	177373440	177373440	G	C	intergenic	BRINP2,LOC101928778	unknown	SNV	-	-	-	0.5095	rs9793420	-	-	-	-	-	-	LAML-KR|1|205|0.00488	-	-	-,-	-,-	ICGC,
chr2	242888100	242888100	-	ATGTGTT	ncRNA_intronic	LINC01237	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr12	73421178	73421178	A	T	intergenic	TRHDE,LOC101928137	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	no phenotypic analysis,-	-,-	ICGC,
chr10	57376957	57376957	T	G	intergenic	MTRNR2L5,ZWINT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr16	48346083	48346083	G	C	ncRNA_intronic	MIR548AE2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr6	76973701	76973701	G	T	intergenic	IMPG1,HTR1B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,skeleton phenotype	Macular dystrophy, vitelliform,Suicidal ideation, in major depression, association with|Receptor variant|Alcohol dependence, association with|Alcohol and drug abuse, association with|Aggressive behaviour, association with	ICGC,
chr12	86145848	86145848	C	T	intergenic	ALX1,RASSF9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,integument phenotype	Microphthalmia with facial clefting|Mental retardation, language delay & microcephaly |Autism spectrum disorder,-	ICGC,
chr4	89933545	89933545	G	T	intronic	FAM13A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16803917	-	PACA-CA|1|268|0.00373	-	-	-	-	COSMIC,ICGC,
chr7	123267564	123267564	A	T	intronic	ASB15	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,PBCA-DE|1|499|0.00200	-	-	-	-	ICGC,
chr9	120344663	120344663	G	A	intergenic	ASTN2,LOC101928797	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-,-	Autism spectrum disorder |Intellectual disability  |Schizophrenia  ,-	ICGC,
chr4	58312906	58312906	G	A	intergenic	IGFBP7-AS1,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	ICGC,
chr10	52622964	52622964	C	T	intronic	A1CF	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	-	ICGC,
chr10	85451621	85451621	C	T	intergenic	NRG3,GHITM	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Schizophrenia, association with |Increased ventrolateral PFC activation|Hirschsprung disease  ,-	ICGC,
chr12	104920733	104920733	C	T	intronic	CHST11	unknown	SNV	-	-	-	-	rs767724130	-	-	-	-	COSN14995979	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	-	COSMIC,ICGC,
chrX	107168373	107168373	C	T	ncRNA_intronic	LOC101928335	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr4	27262518	27262518	G	A	intergenic	STIM2,MIR4275	unknown	SNV	-	-	-	0.3890	rs16879070	-	0.332069	-	0.312	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,-	-,-	ICGC,
chr21	14359584	14359584	G	A	intergenic	NONE,ANKRD30BP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	70509620	70509620	T	C	intronic	LRRC7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging	-	ICGC,
chr6	154420502	154420502	-	GAGA	intronic	OPRM1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	integument phenotype	Striatal dopamine response to alcohol|Post-operative pain response, association with|Pressure pain sensitivity in females, association with|Proinflammatory cytokine levels and health perception, association with|Reduced agonist potency|Reduced agonist potency, association with|Reduced expression|Reduced promoter activity|Smoking behaviour, increased susceptibility|Pain perception, association with|Increased promoter activity|Impaired receptor signalling|Addiction, association with|Altered beta-endorphin binding, association with|Altered reinforcement learning, association with|Altered trafficking and/or signalling|Decreased body mass index, association with|Decreased receptor expression|Drug intake, association with |Epilepsy|Epilepsy, association with 	ICGC,
chr21	25697527	25697527	G	T	intergenic	LOC101927869,LOC339622	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	ICGC,
chr11	101437359	101437359	C	T	intronic	TRPC6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Steroid resistant nephrotic syndrome, association with|Pyloric stenosis, infantile hypertrophic, association with|Pulmonary arterial hypertension, association with|Podocytopathy|Nephrotic syndrome, steroid resistant |Focal segmental glomerulosclerosis |Collapsing glomerulosclerosis	ICGC,
chr2	23901218	23901218	C	T	intronic	KLHL29	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr7	73479061	73479061	G	A	intronic	ELN	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging	Subarachnoid haemorrhage, association with |Supravalvular aortic stenosis|Supravalvular aortic stenosis in Williams-Beuren syndrome|Vascular stenosis|Williams-Beuren syndrome features |Williams-Beuren syndrome, predisp. to, association with|Pulmonary valve stenosis|Peripheral pulmonary artery stenosis|Atrial septal defect and aortic dilation|Cardiomyopathy & pulmonary emphysema|Chronic obstructive pulmonary disease|Cutis laxa|Inguinal hernia, association with|Modifies self assembly and mechanical properties of elastic matrix	ICGC,
chr5	119828683	119828683	C	T	intronic	PRR16	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr12	54970278	54970278	C	A	intronic	PDE1B	unknown	SNV	-	-	-	3.234e-05	-	-	-	-	-	COSN19726983	-	COCA-CN|1|321|0.00312	-	-	behavior/neurological phenotype	-	COSMIC,ICGC,
chr1	217163871	217163871	G	C	intronic	ESRRG	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8433452	-	OV-AU|1|93|0.01075	-	-	mortality/aging	Breast cancer, association with 	COSMIC,ICGC,
chr14	33264120	33264120	G	A	intronic	AKAP6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	-	ICGC,
chr11	21446690	21446690	C	T	intronic	NELL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Crohn disease, association with	ICGC,
chr22	47612347	47612347	G	A	intergenic	TBC1D22A,LOC101927722	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr4	135076500	135076500	T	C	intergenic	PCDH10,PABPC4L	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Schizophrenia|Potential protein deficiency,Autism spectrum disorder  	ICGC,
chr14	67234643	67234643	A	G	intronic	GPHN	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6256966	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging	Seizures |Schizophrenia|Molybdenum cofactor deficiency|Hyperekplexia|Epilepsy with cognitive impairment / autism spectrum disorder|Autism spectrum disorder & seizures|Autism spectrum disorder	COSMIC,ICGC,
chrX	4042058	4042058	C	T	intergenic	LOC389906,LOC101928201	unknown	SNV	-	-	-	0.0007	rs538216845	-	0.000794702	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr20	45578812	45578812	T	C	intronic	EYA2	unknown	SNV	-	-	-	0.4400	rs1206756	-	0.383187	-	0.413	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr21	36815197	36815197	T	C	ncRNA_intronic	LOC100506403	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr7	53733317	53733317	G	A	ncRNA_intronic	LINC01446	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr8	4548071	4548071	G	A	intronic	CSMD1	unknown	SNV	-	-	-	0.0001	rs549776919	-	0.000599042	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	Schizophrenia, association with |Hyperinsulinism|Autism|Attention deficit hyperactivity disorder 	ICGC,
chr4	184167298	184167298	G	A	intronic	WWC2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	Restless legs syndrome 	ICGC,
chr3	186522423	186522423	C	T	exonic	RFC4	nonsynonymous	SNV	0.11	0.004	-	-	-	-	-	-	-	COSM5864102	-	-	-	-	-	-	COSMIC,
chr4	4623126	4623126	A	C	ncRNA_intronic	STX18-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr21	26177381	26177381	G	A	intergenic	LOC101927869,LOC339622	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr12	41026956	41026956	A	C	intergenic	MUC19,CNTN1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15270902	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,Myopathy, lethal congenital|Pancreatic cancer 	COSMIC,ICGC,
chr5	29184419	29184419	G	T	intergenic	LOC101929645,LOC101929681	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BOCA-FR|1|98|0.01020	-	-	-,-	-,-	ICGC,
chr19	10282296	10282296	G	A	intronic	DNMT1	unknown	SNV	-	-	-	9.711e-05	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	integument phenotype	Cerebellar ataxia, deafness & narcolepsy|Schizophrenia  |Sensory neuropathy with dementia & hearing loss	ICGC,
chr7	52270705	52270705	G	A	intergenic	COBL,POM121L12	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	nervous system phenotype,-	-,-	ICGC,
chr4	31405074	31405074	A	C	intergenic	PCDH7,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr11	81076099	81076099	A	T	intergenic	LOC101928944,LOC101928989	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16382774	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr9	24938364	24938364	G	A	intergenic	IZUMO3,TUSC1	unknown	SNV	-	-	-	6.473e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	131542050	131542050	G	A	intronic	CPNE4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr2	2403668	2403668	G	A	intergenic	MYT1L,LINC01250	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	Schizophrenia, childhood onset  |Schizophrenia  |Intellectual disability, obesity, hyperphagia & behavioural difficulties|Intellectual disability, obesity & hyperactivity|Intellectual disability  |Brain malformations |Autism ,-	ICGC,
chr19	48346746	48346746	G	A	downstream	CRX	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	vision/eye phenotype	Retinitis pigmentosa, autosomal recessive ?|Retinitis pigmentosa, autosomal dominant|Retinitis pigmentosa|Potential protein deficiency|Macular dystrophy  |Leber congenital amaurosis|Cone/cone-rod dystrophy.|Cone-rod dystrophy|Cone dystrophy	ICGC,
chr2	138425360	138425360	T	G	exonic	THSD7B	unknown	SNV	0.231	0.004	-	-	rs778256545	-	-	-	-	COSM1229232	-	-	-	-	-	Autism spectrum disorder	COSMIC,COSMIC,
chr4	12760740	12760740	G	A	intergenic	HS3ST1,RAB28	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	-,Breast cancer risk, association with |Cone-rod dystrophy, autosomal recessive	ICGC,
chr1	211446164	211446164	C	T	intronic	RCOR3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-UK|1|141|0.00709	-	-	-	-	ICGC,
chr11	36996243	36996243	T	G	intergenic	C11orf74,LOC103312105	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	215910407	215910407	T	G	intronic	USH2A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	vision/eye phenotype	Retinitis pigmentosa?|Retinitis pigmentosa.|Sensorineural hearing loss, nonsyndromic  |Usher syndrome  |Usher syndrome 1  |Usher syndrome 2|Usher syndrome 2a|Usher syndrome 3 |Retinitis pigmentosa, recessive, no hearing loss|Retinitis pigmentosa, autosomal recessive.|Retinitis pigmentosa, autosomal recessive |Retinitis pigmentosa|Retinal degeneration|Hearing loss, early-childhood|Deafness, non-syndromic |Deafness  |Autism spectrum disorder|Autism	ICGC,
chr4	119785820	119785820	C	T	intronic	SYNPO2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr3	174471814	174471814	C	T	intergenic	NLGN1,NAALADL2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Microcephaly, seizure disorder & intellectual disability |Autism spectrum disorder  |Autism|Anorectal malformation,-	ICGC,
chr12	64497354	64497354	T	C	intronic	SRGAP1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24164751	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	-	Papillary thyroid carcinoma, susceptibility to	COSMIC,COSMIC,ICGC,
chr9	7552463	7552463	A	C	intergenic	KDM4C,TMEM261	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Upper aerodigestive tract cancer, association with,-	ICGC,
chr1	216111793	216111793	C	T	intronic	USH2A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	vision/eye phenotype	Retinitis pigmentosa?|Retinitis pigmentosa.|Sensorineural hearing loss, nonsyndromic  |Usher syndrome  |Usher syndrome 1  |Usher syndrome 2|Usher syndrome 2a|Usher syndrome 3 |Retinitis pigmentosa, recessive, no hearing loss|Retinitis pigmentosa, autosomal recessive.|Retinitis pigmentosa, autosomal recessive |Retinitis pigmentosa|Retinal degeneration|Hearing loss, early-childhood|Deafness, non-syndromic |Deafness  |Autism spectrum disorder|Autism	ICGC,
chr1	9094203	9094203	G	A	intergenic	SLC2A7,SLC2A5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,hearing/vestibular/ear phenotype	-,-	ICGC,
chr17	54587367	54587367	A	G	intergenic	ANKFN1,NOG	unknown	SNV	-	-	-	-	rs532459304	-	0.000199681	-	-	COSN7440457	-	PACA-AU|1|391|0.00256	-	-	-,integument phenotype	-,Teunissen-Cremers syndrome|Tarsal/carpal coalition syndrome|Symphalangism, proximal & conductive hearing loss|Symphalangism, proximal|Symphalangism, joint contractures, hyperopia, hearing loss & tracheo-oesophageal fistula|Symphalangism, facial dysmorphology, intellectual disability, ADHD & hearing loss|Stapes ankylosis with broad thumb and toes|Premature ovarian failure and proximal symphalangism|Multiple synostosis syndrome 1, facial dysmorphism & mental retardation|Multiple synostoses syndrome|Fibrodysplasia ossificans progressiva|Facioaudiosymphalangism syndrome|Brachydactyly, type B	COSMIC,ICGC,
chr11	48945262	48945262	G	C	intergenic	OR4A47,TRIM49B	unknown	SNV	-	-	-	0.1051	rs28880060	-	-	-	-	COSN1134207	-	LINC-JP|1|394|0.00254	-	-	-,-	-,-	COSMIC,ICGC,
chr6	110816781	110816781	C	T	intergenic	SLC22A16,CDK19	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr12	1761888	1761895	CTTACGCC	-	intergenic	WNT5B,MIR3649	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging,-	Diabetes, suceptibility, association with,-	ICGC,
chr21	22712490	22712490	A	C	intronic	NCAM2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15248536	-	ESAD-UK|1|301|0.00332	-	-	taste/olfaction phenotype	-	COSMIC,ICGC,
chr1	218610692	218610692	C	A	exonic	TGFB2	nonsynonymous	SNV	0.114	0.493	-	-	-	-	-	-	-	COSM6213902	-	EOPC-DE|1|202|0.00495	-	-	mortality/aging	Breast cancer, progression, association with|Loeys-Dietz syndrome 4|Thoracic aortic aneurysms and dissections	COSMIC,COSMIC,ICGC,
chr8	5198844	5198844	C	A	intergenic	CSMD1,LOC100287015	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Schizophrenia, association with |Hyperinsulinism|Autism|Attention deficit hyperactivity disorder ,-	ICGC,
chr3	117944879	117944879	T	A	intergenic	LINC00901,IGSF11	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr6	98343619	98343619	C	T	intergenic	LOC101927314,MIR2113	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr12	104006611	104006611	C	A	intronic	STAB2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8287954	-	PACA-CA|1|268|0.00373	-	-	mortality/aging	-	COSMIC,ICGC,
chr4	128752746	128752746	G	A	intronic	HSPA4L	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19437993	-	-	-	-	mortality/aging	-	COSMIC,
chr8	120126618	120126618	-	A	intergenic	COLEC10,MAL2	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN26134786	-	-	-	-	-,-	-,-	COSMIC,
chr5	115205038	115205038	G	T	intronic	AP3S1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24581746	-	GACA-CN|1|123|0.00813	-	-	-	Potential protein deficiency	COSMIC,ICGC,
chr1	100743359	100743359	G	T	intronic	RTCA	unknown	SNV	-	-	-	0.0001	-	-	-	-	-	COSN8316288	-	PACA-CA|1|268|0.00373	-	-	-	-	COSMIC,ICGC,
chr13	73346363	73346363	G	T	exonic	DIS3	nonsynonymous	SNV	0.0	1.0	-	-	-	-	-	-	-	COSM5482552	-	COCA-CN|1|321|0.00312	-	-	-	-	COSMIC,ICGC,
chr9	18703141	18703141	A	-	intronic	ADAMTSL1	unknown	deletion	-	-	-	3.446e-05	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312,LIRI-JP|2|258|0.00775	-	-	-	-	ICGC,
chr11	56039777	56039777	A	G	intergenic	OR5T3,OR5T1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27044156	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr8	88894322	88894322	A	C	intergenic	DCAF4L2,MMP16	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24640752	-	GACA-CN|1|123|0.00813	-	-	-,mortality/aging	-,-	COSMIC,ICGC,
chr8	50331548	50331548	G	A	intergenic	C8orf22,SNTG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|2|183|0.01093	-	-	-,-	-,Autism|Intellectual disability, cleft palate, hearing loss and dysmorphisms	ICGC,
chr8	107276533	107276533	G	A	intergenic	ZFPM2,OXR1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype,mortality/aging	Atrial septal defect & gonadal dysgenesis|Diaphragmatic hernia, congenital|Double outlet right ventricle |Gonadal dysgenesis |Reduced activity|Tetralogy of Fallot ,-	ICGC,
chr2	49243262	49243262	A	T	intronic	FSHR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype	Ovarian hyperstimulation syndrome|Ovarian hyperstimulation syndrome, association with|PCOS, association|PCOS, association with|Poor ovarian response to gonadotrophin stimulation, association|Premature ovarian failure|Premature ovarian failure, association with|Premature ovarian failure, early-onset|Primary amenorrhea|Reduced mRNA and protein expression, association with|Secondary amenorrhea|Serum FSH levels, association with|Sterility|Twinning, dizygotic|Ovarian hyperstimulation response, association with|Ovarian cancer, association with|Ovarian cancer susceptibility, association with|Decr. total testes volume and altered serum reproductive hormone levels, in men, association with.|Decreased promoter activity|Endometriosis risk, association with|Endometriosis, risk, association with|FSHR activation|FSHR inactivation|Hormone levels in PCOS, association with|Hypergonadotropic hypogonadism|Menstrual cycle, length, association with|Lower basal FSH level, association with|Increased serum FSH levels, association with|Increased promoter activity|Hypertension, female, association with|Hypergonadotropic ovarian failure	ICGC,
chr8	65111301	65111301	T	G	intergenic	LINC01289,MIR124-2HG	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25735040	-	EOPC-DE|1|202|0.00495	-	-	-,-	-,-	COSMIC,ICGC,
chr2	7839768	7839768	C	T	intergenic	LOC100506274,LOC101929551	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr17	52860456	52860456	C	T	intergenic	KIF2B,TOM1L1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr19	15235617	15235617	C	T	intronic	ILVBL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Schizophrenia	ICGC,
chr5	66742098	66742098	T	A	intergenic	CD180,LOC102467655	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	-,-	ICGC,
chr9	74382363	74382363	A	C	intronic	TMEM2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26362508	-	PRAD-UK|1|140|0.00714	-	-	-	Hepatitis B, chronic, association with	COSMIC,ICGC,
chr21	23087207	23087207	G	A	intergenic	NCAM2,LINC00317	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	taste/olfaction phenotype,-	-,-	ICGC,
chr2	31575563	31575563	C	T	intronic	XDH	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype	XDH deficiency|Xanthinuria, type 1, with bilateral renal calculi.|Xanthinuria, type 1|Potential protein deficiency|Increased activity|Hypertension, association with|Hypertension |Decreased transcriptional activity|Decreased activity	ICGC,
chr4	116208232	116208232	G	A	intergenic	NDST4,MIR1973	unknown	SNV	-	-	-	3.236e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr9	84717560	84717560	C	T	intergenic	SPATA31D1,RASEF	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	ICGC,
chr6	157230153	157230153	C	G	intronic	ARID1B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Schizophrenia|Nicolaides-Baraitser syndrome|Intellectual disability, plantar fat pads & facial dysmorphism|Intellectual disability, corpus callosum abnormalities, speech impairment & autism|Intellectual disability & speech impairment|Intellectual disability & agenesis of corpus callossum|Intellectual disability  |Developmental delay, dysmorphic features, dysgenesis of the corpus callosum, limb anomalies & genital hypoplasia|Coffin-Siris syndrome|Autism?|Autism spectrum disorder|Autism	ICGC,
chr5	5708538	5708538	G	A	intergenic	ICE1,FLJ33360	unknown	SNV	-	-	-	0.0006	rs140785877	-	0.00159744	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr19	24351708	24351708	G	A	intergenic	HAVCR1P1,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr12	53900650	53900650	C	T	exonic	NPFF	stopgain	SNV	-	-	-	-	-	-	-	-	-	-	SKCM|1|368|0.00272	SKCM-US|1|335|0.00299	-	-	-	-	TCGA,ICGC,
chr2	79254222	79254222	C	A	exonic	REG3G	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM284535	COAD|1|367|0.00272,COADREAD|1|489|0.00204	-	-	-	-	-	COSMIC,TCGA,
chr4	25601082	25601082	G	C	intergenic	ANAPC4,SLC34A2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,mortality/aging	-,Potential protein deficiency|Pulmonary alveolar microlithiasis	ICGC,
chr3	88809565	88809565	G	A	intergenic	C3orf38,EPHA3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Oligozoospermia|Schizophrenia    |Sertoli-cell-only syndrome	ICGC,
chr12	3487059	3487059	G	A	intergenic	TSPAN9,PRMT8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,immune system phenotype	-,-	ICGC,
chr4	150665580	150665580	G	A	intergenic	NR3C2,DCLK2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,mortality/aging	Myocardial infarction, increased risk, association with|Neonatal stress, association with|Pseudohypoaldosteronism 1|Pseudohypoaldosteronism type 1, autosomal dominant|Reduced expression|Reduced expression, association with|Increased BMI and LDL-cholesterol, association with|Increased blood pressure, association with|Increased amygdala reactivity, with prior childhood emotional neglect, association with.|Autism |Blood pressure variation in response to potassium, association with|Cortisol awakening response in women, association with|Fibromyalgia|Higher ADHD symptom dimensions, association with|Hypertension, early onset exacerbated in pregnancy,-	ICGC,
chr13	88230733	88230733	C	T	ncRNA_intronic	MIR4500HG	unknown	SNV	-	-	-	-	rs563411429	-	0.000199681	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr16	78294833	78294834	CA	-	intronic	WWOX	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging	Reduced plasma HDL cholesterol, association with|Non-small-cell lung cancer |Microcephaly syndrome, early lethal|Lung cancer, increased risk, association with|Differentiated thyroid carcinoma, association with|Cerebellar ataxia with epilepsy & mental retardation|Cancer |46,XY disorder of sex development 	ICGC,
chr21	28372393	28372393	G	C	intergenic	ADAMTS5,MIR5009	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22241299	-	BRCA-UK|1|141|0.00709,BRCA-EU|1|569|0.00176	-	-	integument phenotype,-	-,-	COSMIC,ICGC,
chr20	35900801	35900801	T	-	intergenic	GHRH,MANBAL	unknown	deletion	-	-	-	3.265e-05	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312,LIRI-JP|1|258|0.00388	-	-	reproductive system phenotype,-	Altered promoter activity|Lung cancer, susceptibility to, association with,-	ICGC,
chr2	156122245	156122245	G	A	intergenic	KCNJ3,AC093375.1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	cardiovascular system phenotype,-	Schizophrenia, association with  ,-	ICGC,
chr4	35896084	35896084	G	A	intergenic	NONE,ARAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr14	44383521	44383521	C	T	intergenic	LRFN5,FSCB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	Short stature|Developmental delay, seizures & learning problems ,Tourette syndrome 	ICGC,
chr10	133270204	133270204	T	A	intergenic	TCERG1L,LINC01164	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15436963	-	OV-AU|1|93|0.01075	-	-	-,-	-,-	COSMIC,ICGC,
chr5	162461539	162461539	G	A	intergenic	GABRG2,CCNG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,mortality/aging	Seizures, generalized tonic-clonic|Myoclonic epilepsy of infancy |Generalized epilepsy with febrile seizures plus|Febrile seizures|Epilepsy, susceptibility to|Epilepsy, idiopathic generalised  |Epilepsy, childhood absence with febrile seizures|Dravet syndrome,-	ICGC,
chr4	43151624	43151624	C	T	intergenic	GRXCR1,KCTD8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,-	Hearing impairment, nonsyndromic, autosomal recessive,-	ICGC,
chr6	69302187	69302187	G	T	intergenic	NONE,BAI3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chrX	136602119	136602119	C	T	intergenic	GPR101,ZIC3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Situs abnormality|Heterotaxy|Congenital heart disease |Cardiac malformation	ICGC,
chr1	121381880	121381880	C	T	intergenic	EMBP1,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr18	75038796	75038796	C	T	intergenic	GALR1,LINC01029	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	behavior/neurological phenotype,-	Growth hormone insufficiency,-	ICGC,
chr19	24614628	24614628	C	A	intergenic	HAVCR1P1,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr2	180612363	180612363	C	T	intronic	ZNF385B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Mental retardation  	ICGC,
chrX	138636027	138636027	C	T	intronic	F9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	mortality/aging	Warfarin sensitivity|Thrombophilia  |Reduced factor IX level in females|Not a cause of elevated F9 levels in VTE|Haemophilia B, severe|Haemophilia B	ICGC,
chr12	74141287	74141287	C	T	intergenic	LOC101928137,LOC100507377	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr13	49764033	49764033	T	-	intronic	FNDC3A	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	reproductive system phenotype	-	ICGC,
chr3	128635020	128635020	T	C	intergenic	ACAD9,KIAA1257	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	Acyl-Coenzyme dehydrogenase 9 deficiency|Complex I deficiency|Riboflavin responsive complex 1 deficiency,-	ICGC,
chr7	112187150	112187150	C	G	intergenic	LSMEM1,LOC100996249	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr6	44637156	44637156	A	C	intergenic	CDC5L,SUPT3H	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,46,XY gonadal dysgenesis	ICGC,
chr4	26549835	26549835	C	T	intergenic	CCKAR,TBC1D19	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,-	Higher percent body fat, association with|Receptor variant|Reduced expression|Schizophrenia, association with ,-	ICGC,
chr3	148759350	148759350	G	T	exonic	HLTF	nonsynonymous	SNV	0.308	0.053	-	-	-	-	-	-	-	COSM5795053	-	BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr2	106110133	106110133	G	A	intergenic	FHL2,LOC285000	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	skeleton phenotype,-	Hip bone size, association with ,-	ICGC,
chr4	30093650	30093650	A	G	intergenic	MIR4275,PCDH7	unknown	SNV	-	-	-	-	rs140608144	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr4	148251195	148251195	C	T	intergenic	TTC29,EDNRA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Reduced pulmonary function, in cystic fibrosis, association with|Myocardial infarction|Migraine, association with|Intracranial aneurysm, increased risk, association with|Hypertension, protection against, association with |Hernia, diaphragmatic |Congenital absence of the vas deferens, association with|Breast cancer, susceptibility to, association with|Adrenal hyperplasia, macronodular, ACTH-independent	ICGC,
chr2	199343241	199343241	C	T	intergenic	LOC101927619,SATB2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Toriello-Carey syndrome|Pierre Robin sequence  |Intellectual disability, nonsyndromic|Dentofacial abnormalities|Cleft palate, osteoporosis and cognitive defects|Cleft palate|Autism spectrum disorder	ICGC,
chr4	54678369	54678369	-	GACA	intergenic	LNX1-AS2,RPL21P44	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr8	85537668	85537668	G	T	intronic	RALYL	unknown	SNV	-	-	-	3.232e-05	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr1	190343888	190343888	A	C	intronic	BRINP3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	-	ICGC,
chr16	79012274	79012274	G	A	intronic	WWOX	unknown	SNV	-	-	-	-	rs749438118	-	-	-	-	COSN1709984	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging	Reduced plasma HDL cholesterol, association with|Non-small-cell lung cancer |Microcephaly syndrome, early lethal|Lung cancer, increased risk, association with|Differentiated thyroid carcinoma, association with|Cerebellar ataxia with epilepsy & mental retardation|Cancer |46,XY disorder of sex development 	COSMIC,ICGC,
chr2	61826344	61826344	A	G	intergenic	XPO1,FAM161A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Autism,Retinal dystrophy |Retinitis pigmentosa|Retinitis pigmentosa, autosomal recessive	ICGC,
chr11	106792178	106792178	A	T	intronic	GUCY1A2	unknown	SNV	-	-	-	0.0009	rs528596048	-	0.000199681	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	hematopoietic system phenotype	-	ICGC,
chr14	95918526	95918526	G	T	intronic	SYNE3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr14	99298926	99298926	C	T	intergenic	C14orf177,BCL11B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,-	ICGC,
chr4	28093935	28093935	T	C	intergenic	STIM2,MIR4275	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	integument phenotype,-	-,-	ICGC,
chr9	87172957	87172957	C	A	intergenic	SLC28A3,NTRK2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LINC-JP|1|394|0.00254	-	-	-,mortality/aging	Reduced sodium-binding capacity,Anxiety-related traits, association with|Obesity, hyperphagia, and developmental delay	ICGC,
chr3	95411272	95411272	T	G	intergenic	MTHFD2P1,MIR8060	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17842619	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr10	9782607	9782607	C	T	intergenic	LOC101928272,LOC101928298	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN10075867	-	RECA-EU|1|422|0.00237	-	-	-,-	-,-	COSMIC,ICGC,
chr7	47042435	47042435	C	T	intergenic	IGFBP3,TNS3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	behavior/neurological phenotype,mortality/aging	Prostate cancer, increased risk|Plasma IGFBP-3 levels, association with|Pancreatic cancer, clinical outcome, association with|Lung cancer, increased risk, association with|Increased IGFBP-3 levels, association with|IGFBP-3 levels|Higher promoter activity, association with|Drug response, association with|Decreased IGFBP-3 levels, association with|Colorectal cancer, association with,Renal agenesis, pulmonary infections & growth/developmental delay	ICGC,
chr16	58061221	58061221	G	T	intronic	MMP15	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging	-	ICGC,
chr8	8631218	8631218	T	A	intergenic	CLDN23,MFHAS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr16	12780101	12780101	T	A	intronic	CPPED1	unknown	SNV	-	-	-	0.0413	rs868059391	-	-	-	-	-	-	ESAD-UK|1|301|0.00332,PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr11	60642633	60642633	C	T	exonic	ZP1	synonymous	SNV	-	-	0.0040	0.0172	rs112864814	0.0055	0.0155751	0.0185	0.007	-	DLBC|1|48|0.02083	-	-	-	hematopoietic system phenotype	Infertility 	TCGA,
chr13	35630627	35630627	A	G	intronic	NBEA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	integument phenotype	Autism, idiopathic|Schizophrenia|Tetralogy of Fallot	ICGC,
chr14	82206286	82206286	G	A	intergenic	LOC101928559,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr13	74652668	74652668	G	-	intronic	KLF12	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-	-	ICGC,
chr5	50781290	50781290	C	A	intergenic	ISL1,PELO	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9450440	-	OV-AU|1|93|0.01075	-	-	integument phenotype,mortality/aging	Cardiomyopathy, dilated|Diabetes, type 2|Intellectual and developmental disabilities,-	COSMIC,ICGC,
chr22	31378827	31378827	T	C	intergenic	TUG1,SMTN	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,integument phenotype	-,-	ICGC,
chr16	54570385	54570385	C	T	intergenic	IRX3,CRNDE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging,-	Increased body mass index, association with,-	ICGC,
chr12	84537146	84537146	G	A	intergenic	TMTC2,SLC6A15	unknown	SNV	-	-	-	0.0004	rs540588960	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,reproductive system phenotype	-,Increased maximal 3H proline uptake	ICGC,
chr21	27075314	27075314	CC	TT	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr21	9443329	9443329	G	A	intergenic	NONE,MIR3648-1	unknown	SNV	-	-	-	0.2444	rs374240860	-	-	-	0.145	-	-	LICA-CN|1|402|0.00249,SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr2	95514937	95514937	C	A	ncRNA_intronic	ANKRD20A8P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|2|170|0.01176	-	-	-	-	ICGC,
chr16	22761987	22761987	T	-	ncRNA_intronic	MIR548AA2,MIR548D2	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr4	163129925	163129925	T	A	intergenic	FSTL5,NAF1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	Schizophrenia  |Rolandic epilepsy ,-	ICGC,
chr18	38265193	38265193	A	T	intergenic	LOC101927900,KC6	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22963206	-	PAEN-IT|1|37|0.02703	-	-	-,-	-,-	COSMIC,COSMIC,ICGC,
chr12	23583461	23583461	G	A	intergenic	LOC101928441,SOX5	unknown	SNV	-	-	-	0.0786	rs7959896	-	0.0872604	-	0.058	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,Intellectual disability  |Developmental delays|Autism spectrum disorder  	ICGC,
chr13	69918887	69918887	G	A	intergenic	LINC00550,KLHL1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19179876	-	CLLE-ES|1|510|0.00196	-	-	-,behavior/neurological phenotype	-,Breast cancer, increased risk  	COSMIC,ICGC,
chr4	104467361	104467361	C	A	intergenic	CENPE,TACR3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15478961	-	OV-AU|1|93|0.01075	-	-	mortality/aging,behavior/neurological phenotype	Cancer  ,Kallmann syndrome|Hypogonadotropic hypogonadism	COSMIC,COSMIC,ICGC,
chr13	83101627	83101627	A	G	intergenic	NONE,SLITRK1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,Trichotillomania|Tourette syndrome|Obsessive-compulsive disorder |Attention deficit hyperactivity disorder 	ICGC,
chr2	227713092	227713092	A	G	intronic	RHBDD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr13	71841513	71841513	G	A	intergenic	LINC00348,DACH1	unknown	SNV	-	-	-	6.468e-05	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,Renal hypodysplasia	ICGC,
chr6	102465143	102465143	G	A	intronic	GRIK2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	Mental retardation, non-syndromic, autosomal recessive	ICGC,
chr4	85534543	85534543	C	T	intronic	CDS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-	-	ICGC,
chr4	121421553	121421553	-	TTCA	intergenic	MAD2L1,PRDM5	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	mortality/aging,skeleton phenotype	Lung cancer, association with|Reduced expression,Brittle cornea syndrome	ICGC,
chr16	72573289	72573289	-	AT	intergenic	PMFBP1,ZFHX3	unknown	insertion	-	-	-	0.0419	rs146953071	-	0.0339457	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	Schizophrenia,Prostate cancer risk, association with	ICGC,
chr4	90546698	90546698	T	A	intergenic	GPRIN3,SNCA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,integument phenotype	Autism,Parkinsonism & dementia|Parkinson disease, young-onset|Parkinson disease, early-onset|Parkinson disease, association with|Parkinson disease, age of onset, association with|Parkinson disease & multiple system atrophy|Parkinson disease & dementia|Parkinson disease|Increased expression	ICGC,
chr10	71005869	71005869	G	A	exonic	HKDC1	nonsynonymous	SNV	0.001	1.0	8.121e-06	-	-	-	-	-	-	COSM4690581	-	-	-	-	-	-	COSMIC,
chr7	145137055	145137055	G	A	intergenic	TPK1,CNTNAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	Thiamine pyrophosphokinase deficiency|Leigh-like disease|Colorectal cancer, increased risk, association with |Autism,Gilles de la Tourette syndrome|Intellectual disability  |Learning disability & speech problems|Mental retardation |Mental retardation, Pitt-Hopkins-like|Multiple congenital anomalies  |Seizures, neonatal |Speech delay  |Stuttering |Epileptic encephalopathy  |Epilepsy and schizophrenia|Autism|Autism spectrum disorder |Autism spectrum disorder, modifier of|Childhood apraxia of speech|Cortical dysplasia-focal epilepsy syndrome|Developmental and/or speech and/or behavioural problems|Developmental delay  |Developmental delay & dysmorphic features|Dyslexia 	ICGC,
chr12	9287365	9287365	C	T	intergenic	A2M,PZP	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	-,integument phenotype	Alzheimer disease, association with|Autism|Chronic obstructive pulmonary disease,Autism spectrum disorder|Potential protein deficiency	ICGC,
chr5	72784691	72784691	C	A	intergenic	FOXD1,BTF3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging,mortality/aging	Branchio-oculo-facial-like syndrome,-	ICGC,
chr20	51471931	51471931	C	T	intergenic	LOC101927700,TSHZ2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,mortality/aging	-,Schizophrenia	ICGC,
chr1	110913509	110913509	C	T	intronic	SLC16A4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chrX	33197538	33197538	C	T	intronic	DMD	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9486278	-	OV-AU|1|93|0.01075	-	-	mortality/aging	Muscular dystrophy, Duchenne & Charcot-Marie-Tooth disease|Muscular dystrophy, Duchenne & autism|Muscular dystrophy, Duchenne|Muscular dystrophy, Becker.|Muscular dystrophy, Becker with cognitive impairment|Muscular dystrophy, Becker|Muscular dystrophy, Duchenne-like|Muscular dystrophy, Duchenne, epilepsy, macroglossia and mental retardation|Muscular dystrophy, Duchenne.|Muscular dystrophy, Duchenne/Becker|Muscular dystrophy, intermediate|Myopathy  |Potential protein deficiency|Schizophrenia|Muscular dystrophy, atypical|Muscular dystrophy & intellectual disability|Muscular dystrophy|Autism & neuromotor delay|Autism spectrum disorder|Behavioural issues|Cardiomyopathy, dilated|Cardiomyopathy, dilated, X-linked|Cardiomyopathy, dilated.|Dystrophinopathy|Elevated creatine kinase level|Mild Becker muscular dystrophy|Mental retardation, X-linked|Isolated cardiomyopathy|Increased serum creatine kinase levels|Global developmental delay/intellectual disability|Exertional myalgia, muscle stiffness & myoglobinuria	COSMIC,ICGC,
chr6	109998807	109998807	G	A	intronic	AK9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Schizophrenia	ICGC,
chr6	104714328	104714328	G	A	intergenic	NONE,HACE1	unknown	SNV	-	-	-	0.2519	rs10447461	-	0.186901	-	0.261	COSN16209776	-	-	-	-	-,tumorigenesis	-,Wilms tumour 	COSMIC,
chr6	103706281	103706281	A	T	intergenic	GRIK2,HACE1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,tumorigenesis	Mental retardation, non-syndromic, autosomal recessive,Wilms tumour 	ICGC,
chr8	62585329	62585329	T	A	intronic	ASPH	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Autism spectrum disorder|Facial dysmorphism, lens dislocation, anterior-segment abnormalities & Traboulsi syndrome	ICGC,
chr18	70600188	70600188	A	G	intergenic	NETO1,LOC400655	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	behavior/neurological phenotype,-	-,-	ICGC,
chr11	123638778	123638778	G	A	intergenic	OR6X1,OR6M1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	ICGC,
chr21	14769365	14769365	C	T	intergenic	ANKRD30BP2,MIR3156-3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	146800923	146800923	-	AAGAG	intronic	DPYSL3	unknown	insertion	-	-	-	0	-	-	-	-	-	COSN27923469	-	-	-	-	-	Amyotrophic lateral sclerosis, association with	COSMIC,
chr1	230567036	230567036	A	C	intergenic	PGBD5,COG2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,-	ICGC,
chr2	161768029	161768029	T	G	intergenic	RBMS1,TANK	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	mortality/aging,mortality/aging	-,-	ICGC,
chr8	5705405	5705405	G	A	intergenic	CSMD1,LOC100287015	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	Schizophrenia, association with |Hyperinsulinism|Autism|Attention deficit hyperactivity disorder ,-	ICGC,
chr5	87941181	87941181	A	G	ncRNA_intronic	LINC00461	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-	-	ICGC,
chr20	2198992	2198992	G	A	intergenic	LOC388780,TGM3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Basal cell carcinoma, increased risk, association with|Basal cell carcinoma, reduced risk, association with	ICGC,
chr18	71569657	71569657	T	A	intergenic	LOC100505817,FBXO15	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25059935	-	MALY-DE|1|241|0.00415	-	-	-,normal phenotype	-,-	COSMIC,ICGC,
chr10	19557884	19557884	G	A	intronic	MALRD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr21	20626884	20626884	C	T	intergenic	LOC101927797,LINC00320	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr19	22741056	22741056	A	C	intergenic	LINC01233,GOLGA2P9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr12	2482687	2482687	G	A	intronic	CACNA1C	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23606505	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype	Timothy syndrome|Schizophrenia / bipolar disorder, assoc with |Schizophrenia  |Long QT syndrome.|Long QT syndrome|Early repolarization syndrome|Cardiomyopathy, hypertrophic.|Cardiomyopathy, hypertrophic|Cardiac arrhythmia|Brugada syndrome (shorter-than-normal QT interval)|Autism spectrum disorder	COSMIC,ICGC,
chr4	131019220	131019220	T	G	intergenic	LOC101927282,NONE	unknown	SNV	-	-	-	-	-	-	-	-	0.007	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr4	155719372	155719372	A	G	exonic	RBM46	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM4940603	-	LIHC-US|1|189|0.00529	-	-	-	-	COSMIC,ICGC,
chrX	82649087	82649087	C	A	intergenic	NONE,POU3F4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,integument phenotype	-,X-linked mixed deafness|X-linked deafness|Sensorineural hearing loss  |Mixed hearing loss |Hearing loss, X-linked nonsyndromic|Hearing loss & mental retardation	ICGC,
chr21	31314435	31314435	C	T	intergenic	GRIK1,CLDN17	unknown	SNV	-	-	-	3.229e-05	rs557447977	-	0.000199681	-	-	COSN27722836	-	NKTL-SG|1|50|0.02000	-	-	integument phenotype,-	Lung cancer, susceptibility to, association with|Juvenile absence epilepsy, association with ,-	COSMIC,ICGC,
chr18	6647110	6647110	A	T	intergenic	C18orf64,ARHGAP28	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8681549	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr8	105078623	105078624	TG	-	intronic	RIMS2	unknown	deletion	-	-	-	0.4031	rs34655484	-	0.351438	-	0.007	COSN28015145	-	PRAD-CA|1|308|0.00325	-	-	mortality/aging	-	COSMIC,ICGC,
chr20	37901160	37901160	G	A	intergenic	LOC339568,LINC01370	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr6	121758506	121758512	TTTTTTC	-	intronic	GJA1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	integument phenotype	Sudden infant death syndrome |Oculodentodigital dysplasia with primary lymphoedema|Oculodentodigital dysplasia|Neurologic dysfunction|Heart malformations|Hallerman-Streiff/ODDD syndrome|Ectodermal & oculodentodigital dysplasia with skin hyperkeratosis|Attenuated phenotype in glaucoma |Cleft lip in oculodentodigital dysplasia.|Craniometaphyseal dysplasia|Deafness|Deafness, autosomal recessive	ICGC,
chr3	82409260	82409260	A	G	intergenic	GBE1,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,-	Potential protein deficiency|Polyglucosan body disease, relapsing-remitting form|Polyglucosan body disease, adult|Lethal multiple pterygium syndrome|Glycogen storage disease 4, non-lethal neuromuscular|Glycogen storage disease 4, neonatal|Glycogen storage disease 4|Autism spectrum disorder|Adult polyglucosan body disease,-	ICGC,
chr12	10203504	10203504	T	A	intronic	CLEC9A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	immune system phenotype	-	ICGC,
chr20	58327737	58327737	T	-	intronic	PHACTR3	unknown	deletion	-	-	-	-	-	-	-	-	-	COSN22866105	-	BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr5	19483617	19483617	T	C	exonic	CDH18	nonsynonymous	SNV	0.092	0.002	-	-	-	-	-	-	-	COSM3615101	SKCM|1|368|0.00272	SKCM-US|1|335|0.00299	-	-	-	Anorectal malformation	COSMIC,COSMIC,TCGA,ICGC,
chr1	198340502	198340502	T	A	intergenic	NEK7,ATP6V1G3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	mortality/aging,-	-,-	ICGC,
chr4	117364716	117364716	T	A	intergenic	MIR1973,TRAM1L1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	RECA-EU|1|422|0.00237	-	-	-,-	-,-	ICGC,
chr2	22464493	22464493	T	G	intergenic	LOC645949,LOC102723362	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr5	51702536	51702536	-	A	intergenic	ISL1,PELO	unknown	insertion	-	-	-	6.489e-05	-	-	-	-	-	-	-	OV-AU|1|93|0.01075	-	-	integument phenotype,mortality/aging	Cardiomyopathy, dilated|Diabetes, type 2|Intellectual and developmental disabilities,-	ICGC,
chr3	103786946	103786946	-	AT	intergenic	ZPLD1,MIR548A3	unknown	insertion	-	-	-	0.0991	rs112493642	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	Cerebral cavernous malformations,-	ICGC,
chr8	117204204	117204204	T	C	ncRNA_intronic	LINC00536	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr3	97035101	97035101	C	T	intronic	EPHA6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	Alzheimer disease  	ICGC,
chr16	57003376	57003376	G	A	exonic	CETP	synonymous	SNV	-	-	7.309e-05	9.687e-05	rs147740993	9.06e-05	-	0.0002	-	-	-	-	Hyperalphalipoproteinemia	-	-	Increased HDL-C levels in males|Lower HDL cholesterol level|Metabolic syndrome features, association with|Polypoidal choroidal vasculopathy, association with.|Reduced activity|Reduced cognitive decline, beyond age 65, association with.|Reduced promoter activity|Slower memory decline and  lower dementia risk, association with|Variable apolipoprotein A-I response to change in diet, association with|Hypercholesterolaemia ?|Hyperalphalipoproteinaemia|Altered CETP activity |Alzheimer's disease, increased risk, association with|Cardiovascular disease in type 2 diabetes, association with|Cholesterol ester transfer protein deficiency|Decreased CETP concentration|Exceptional longevity|High-density lipoprotein levels, association with|Higher HDL cholesterol level|Higher HDL cholesterol level, association with	ClinVar,
chr11	91150821	91150821	G	A	intergenic	DISC1FP1,FAT3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,vision/eye phenotype	-,Autism spectrum disorder	ICGC,
chr19	58741764	58741764	C	G	UTR5	ZNF544	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7451261	-	PACA-AU|1|391|0.00256	-	-	-	Potential protein deficiency	COSMIC,ICGC,
chr1	38223650	38223650	C	T	intronic	EPHA10	unknown	SNV	-	-	-	6.461e-05	rs772771961	-	-	-	-	COSN23547349	-	ESAD-UK|1|301|0.00332	-	-	-	-	COSMIC,ICGC,
chr2	58170343	58170343	G	A	intronic	VRK2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-	-	ICGC,
chr4	66659965	66659965	G	A	intergenic	EPHA5-AS1,LOC101927237	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr19	33372843	33372843	C	T	exonic	CEP89	nonsynonymous	SNV	0.189	0.992	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	Intellectual disability  |Complex IV deficiency, isolated	ICGC,
chr1	190451564	190451564	A	G	intergenic	LINC01351,LOC440704	unknown	SNV	-	-	-	0.0785	rs773510443	-	-	-	-	COSN17985148	-	LMS-FR|1|67|0.01493,SKCA-BR|1|100|0.01000	-	-	-,-	-,-	COSMIC,ICGC,
chr5	19077093	19077093	A	C	intergenic	LOC401177,CDH18	unknown	SNV	-	-	-	3.232e-05	-	-	-	-	-	COSN7926057	-	PACA-AU|1|391|0.00256	-	-	-,-	-,Anorectal malformation	COSMIC,ICGC,
chr11	63890802	63890802	G	A	intronic	MACROD1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21330650	-	BRCA-UK|1|141|0.00709,BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr3	55243675	55243675	G	A	intergenic	CACNA2D3,WNT5A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,mortality/aging	Autism ,Robinow syndrome, autosomal dominant	ICGC,
chr5	23039272	23039272	G	T	intergenic	CDH12,PRDM9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,reproductive system phenotype	Lung cancer, susceptibility to, association with,Altered meiotic recombination hotspot usage|Azoospermia by meiotic arrest, association with |Azoospermia, non-obstructive 	ICGC,
chr1	109633604	109633604	C	G	intronic	TMEM167B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-	-	ICGC,
chr16	31427948	31427948	G	A	exonic	ITGAD	nonsynonymous	SNV	0.002	1.0	2.851e-05	-	rs770206209	3.327e-05	-	-	-	COSM6284862	-	LICA-CN|1|402|0.00249	-	-	hematopoietic system phenotype	Potential protein deficiency	COSMIC,ICGC,
chr9	3722532	3722532	-	GTGTAT	intergenic	LOC101929302,GLIS3	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,mortality/aging	-,Diabetes, permanent neonatal|Diabetes, type 1, resistance to|Neonatal diabetes & congenital hypothyroidism|Neural tube defects	ICGC,
chr12	127490406	127490406	C	T	ncRNA_intronic	LOC101927592	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr8	138153797	138153797	C	G	intergenic	KHDRBS3,FAM135B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26212159	-	PRAD-UK|1|140|0.00714	-	-	-,-	-,-	COSMIC,ICGC,
chr5	115532899	115532899	T	A	intronic	COMMD10	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25390716	-	MALY-DE|1|241|0.00415	-	-	-	-	COSMIC,ICGC,
chr17	47219037	47219037	T	-	intronic	B4GALNT2	unknown	deletion	-	-	-	0.0003	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	cellular phenotype	-	ICGC,
chrX	138876080	138876080	G	A	intronic	ATP11C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	hematopoietic system phenotype	-	ICGC,
chr17	39652989	39652989	A	T	intergenic	KRT36,KRT13	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,White sponge nevus	ICGC,
chr1	163466070	163466070	T	C	intergenic	LOC100422212,PBX1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27064424	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	-,Schizophrenia	COSMIC,ICGC,
chr4	166444060	166444060	-	A	intergenic	CPE,LINC01179	unknown	insertion	-	-	-	6.552e-05	-	-	-	-	-	COSN28069431	-	PRAD-CA|1|308|0.00325	-	-	integument phenotype,-	Diabetes mellitus 2, early onset, association with,-	COSMIC,ICGC,
chr9	89816871	89816871	T	C	intergenic	C9orf170,DAPK1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,cellular phenotype	-,Alzheimer disease, late onset, association with|Chronic lymphocytic leukaemia  |Inactivation of ERK-induced apoptosis, association	ICGC,
chr17	66159176	66159176	G	-	intergenic	LINC00674,LOC440461	unknown	deletion	-	-	-	7.451e-05	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr5	5122770	5122770	G	A	intergenic	LINC01020,CTD-2297D10.2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr19	12502581	12502581	A	G	exonic	ZNF799	synonymous	SNV	-	-	4.47e-05	0.0001	rs186790203	9.894e-05	0.000599042	-	-	COSM5647622	-	-	-	-	-	Potential protein deficiency	COSMIC,
chr4	158510537	158510537	C	T	intergenic	LOC340017,FAM198B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr10	67377836	67377836	C	T	ncRNA_intronic	LOC101928913	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr12	127584760	127584760	C	T	intergenic	LOC101927592,LOC101927616	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	98675269	98675269	T	G	upstream	LOC729987	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-	-	ICGC,
chr1	221381263	221381263	A	G	intergenic	HLX,C1orf140	unknown	SNV	-	-	-	0.0352	rs77051114	-	0.0756789	-	0.072	-	-	LAML-KR|1|205|0.00488	-	-	integument phenotype,-	Asthma, association with|Diaphragmatic hernia, congenital ,-	ICGC,
chr7	81867276	81867276	A	G	intronic	CACNA2D1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	behavior/neurological phenotype	Short QT syndrome|Schizophrenia  |Histiocytoid cardiomyopathy|Epileptic encephalopathy  |Brugada syndrome    	ICGC,
chr7	69579569	69579569	G	A	intronic	AUTS2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	NKTL-SG|1|50|0.02000	-	-	-	Speech & language disorder, tonic-clonic movements & pes planus|Myoclonic epilepsy, juvenile |Mental retardation|Intellectual disability, syndromic  |Epilepsy, nonlesional |Developmental delay, intellectual disability, short stature, ptosis & dysmorphism|Developmental delay  |Autism spectrum disorder  |Autism	ICGC,
chr22	46793877	46793877	C	A	intronic	CELSR1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype	Craniorachischisis|Neural tube defects|Spina bifida  	ICGC,
chr11	1849911	1849911	C	T	intergenic	CTSD,SYT8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,-	Neuronal ceroid lipofuscinosis, late infantile|Neuronal ceroid lipofuscinosis  |Intelligence, association with|Creutzfeldt-Jakob disease|Cathepsin D deficiency|Alzheimer disease, association with|Alzheimer disease,  in males, association with,-	ICGC,
chr8	73609169	73609169	T	A	intronic	KCNB2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	Tetralogy of Fallot	ICGC,
chrX	89272681	89272681	A	C	intergenic	TGIF2LX,PABPC5-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN4792804	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	COSMIC,ICGC,
chr15	87422616	87422616	A	G	intronic	AGBL1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24781095	-	GACA-CN|1|123|0.00813	-	-	-	Fuchs corneal dystrophy, late-onset 	COSMIC,ICGC,
chr9	127028664	127028664	C	A	intronic	NEK6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PEME-CA|1|112|0.00893	-	-	normal phenotype	-	ICGC,
chr5	19709625	19709625	G	A	intronic	CDH18	unknown	SNV	-	-	-	6.486e-05	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	Anorectal malformation	ICGC,
chr10	135377903	135377903	C	T	intronic	SYCE1	unknown	SNV	-	-	-	0.0969	rs11101840	-	0.154752	-	0.203	-	-	LAML-KR|1|205|0.00488	-	-	reproductive system phenotype	-	ICGC,
chr2	117488232	117488232	G	A	intergenic	DPP10,DDX18	unknown	SNV	-	-	-	3.233e-05	-	-	-	-	-	COSN203003	-	-	-	-	-,-	Autism spectrum disorder,-	COSMIC,
chr9	24730538	24730538	C	T	intergenic	IZUMO3,TUSC1	unknown	SNV	-	-	-	0.0002	rs756887327	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	ICGC,
chr10	78662775	78662775	C	A	ncRNA_intronic	LOC101929328	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-AU|1|391|0.00256	-	-	-	-	ICGC,
chr8	79732809	79732809	G	A	intergenic	IL7,STMN2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	hematopoietic system phenotype,-	Increased expression,-	ICGC,
chr7	77821431	77821431	T	G	intronic	MAGI2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Seizures|Schizophrenia|Myoclonic epilepsy |Infantile spasms in Williams-Beuren syndrome|Infantile spasms|Developmental delay & microcephaly|Developmental delay  |Developmental and/or speech and/or behavioural problems	ICGC,
chr13	32367129	32367129	-	AAAAAAAAAA	exonic	RXFP2	frameshift	insertion	-	-	-	-	-	-	-	-	-	-	-	NKTL-SG|1|50|0.02000	-	-	integument phenotype	Cryptorchidism 	ICGC,
chr4	151098250	151098250	C	T	intronic	DCLK2	unknown	SNV	-	-	-	9.69e-05	rs761587685	-	-	-	-	COSN26155205	-	PRAD-UK|1|140|0.00714	-	-	mortality/aging	-	COSMIC,ICGC,
chr4	154145157	154145157	C	T	intronic	TRIM2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	vision/eye phenotype	Axonal neuropathy, early-onset	ICGC,
chr5	114862834	114862834	T	A	intronic	FEM1C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	reproductive system phenotype	-	ICGC,
chr14	29429730	29429730	C	T	intergenic	C14orf23,MIR548AI	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	76726672	76726672	C	G	intergenic	GCFC2,LRRTM4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN14541772	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	COSMIC,ICGC,
chr8	114060544	114060544	C	T	intronic	CSMD3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Schizophrenia  |Colorectal cancer 	ICGC,
chr7	105399938	105399938	A	G	intronic	ATXN7L1	unknown	SNV	-	-	-	0.0006	rs868649940	-	-	-	-	COSN6515042	-	LINC-JP|1|394|0.00254	-	-	-	-	COSMIC,ICGC,
chrX	43103533	43103533	G	A	intergenic	LOC101927501,MAOA	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21281976	-	BRCA-UK|1|141|0.00709,BRCA-EU|1|569|0.00176	-	-	-,behavior/neurological phenotype	-,Mental retardation & epilepsy  |Mental retardation, X-linked|Monoamine oxidase deficiency|Panic disorder in female patients, association|Smoking behaviour, association with|Sudden infant death syndrome, association with|Major depression, association with|Intellectual disability, X-linked|Intellectual disability and episodic hypotonia|Intellectual disability & microcephaly|Grey matter loss, association with|Cortical enlargement in autism|Bipolar disorder, association with |Autism spectrum disorder, association with|Antisocial alcoholism, association with	COSMIC,COSMIC,ICGC,
chr9	68838082	68838082	C	T	intergenic	LOC100132352,PGM5P2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr7	68663350	68663350	C	G	intergenic	LOC102723427,LOC100507468	unknown	SNV	-	-	-	0.1779	rs73153361	-	0.235024	-	0.188	-	-	LAML-KR|3|205|0.01463	-	-	-,-	-,-	ICGC,
chr7	54015326	54015326	G	A	intergenic	LINC01446,HPVC1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr6	79829001	79829001	A	C	intergenic	PHIP,HMGN3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9913923	-	RECA-EU|1|422|0.00237	-	-	mortality/aging,homeostasis/metabolism phenotype	Intellectual disability  |Glaucoma, primary congenital,-	COSMIC,ICGC,
chrX	72426581	72426581	G	A	intergenic	NAP1L6,NAP1L2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,Schizophrenia  	ICGC,
chr2	157614086	157614086	C	T	intergenic	GPD2,GALNT5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,normal phenotype	Intellectual disability  |Increased plasma FFA and glycerol levels|Diabetes mellitus, type 2,-	ICGC,
chr6	123325480	123325480	A	G	intronic	CLVS2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	-	ICGC,
chr11	28404403	28404403	C	T	intergenic	METTL15,MIR8068	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr7	49594275	49594275	A	G	intergenic	CDC14C,VWC2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15160230	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chrX	25092752	25092752	T	A	intergenic	ARX,MAGEB18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Infantile spasms & intellectual disability|Intellectual disability & dystonia|Intellectual disability, X-linked|Lissencephaly, X-linked, with abnormal genitalia|Mental retardation|Mental retardation and epilepsy|Neurodegeneration   |Neurodegeneration with Ohtahara syndrome and mov disord|Ohtahara syndrome|Ohtahara syndrome with developmental delay|Partington syndrome|Infantile spasm syndrome, X-linked|Generalized dystonia without infantile spasms|ACC, epilepsy, abnormal genitalia|ACC, infantile spasms & abnormal genitalia|ACC, lissencephaly, seizures & genital hypoplasia|ACC, mental retardation, epilepsy & dyskinetic quadriparesis|Asymmetric polymicrogyria & periventricular nodular heterotopia|Autism spectrum disorder|Developmental delay and early hand preference.|Epilepsy, early-onset|Epilepsy, early-onset.|Epileptic encephalopathy, early infantile|Epileptic encephalopathy, early onset,-	ICGC,
chr8	14108503	14108503	G	T	intronic	SGCZ	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	Cervical artery dissection	ICGC,
chr5	163512840	163512840	A	T	intergenic	MAT2B,LOC101927835	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	EOPC-DE|1|202|0.00495	-	-	-,-	-,-	ICGC,
chr9	80704519	80704519	C	T	intergenic	GNAQ,CEP78	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype,-	Potential protein deficiency|Increased promoter activity, association with|Developmental delay  |Decreased transcription|Decreased insulin resistance and BMI in PCOS, association with|Cardiac hypertrophy,-	ICGC,
chr5	36744299	36744299	C	T	intergenic	SLC1A3,LOC646719	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	vision/eye phenotype,-	Increased glutmate transport|Episodic ataxia/hemiplegia/seizures|Episodic ataxia  6,-	ICGC,
chrX	50900193	50900193	C	A	ncRNA_intronic	LINC01284	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9883571	-	RECA-EU|1|422|0.00237	-	-	-	-	COSMIC,ICGC,
chr13	88403300	88403300	T	C	intergenic	SLITRK5,LINC00397	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,-	-,-	ICGC,
chr14	92582158	92582158	C	T	downstream	NDUFB1	unknown	SNV	-	-	-	3.232e-05	-	-	-	-	-	COSN8461893	-	OV-AU|1|93|0.01075	-	-	-	Complex I deficiency	COSMIC,COSMIC,ICGC,
chr4	110997587	110997587	G	A	intronic	ELOVL6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	-	ICGC,
chr2	183277980	183277980	A	T	intronic	PDE1A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	Cardiovascular malformations	ICGC,
chr19	6209885	6209885	-	CCTTCCTTCCCTCCTTT	downstream	MLLT1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|2|71|0.02817	-	-	mortality/aging	-	ICGC,
chr6	62583449	62583449	A	G	intronic	KHDRBS2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr5	178190056	178190056	C	T	intergenic	ZNF354A,AACSP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	104434370	104434370	G	A	intergenic	CENPE,TACR3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,behavior/neurological phenotype	Cancer  ,Kallmann syndrome|Hypogonadotropic hypogonadism	ICGC,
chr16	71582278	71582278	G	A	intergenic	CHST4,LOC100132529	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	immune system phenotype,-	-,-	ICGC,
chr7	133084104	133084104	T	C	intronic	EXOC4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17071450	-	-	-	-	mortality/aging	Meckel-Gruber syndrome|Cervical artery dissection|Autism spectrum disorder  	COSMIC,
chr9	95418797	95418797	C	T	exonic	IPPK	nonsynonymous	SNV	0.141	0.76	-	-	-	-	-	-	-	COSM3908905	STAD|1|395|0.00253,STES|1|395|0.00253	STAD-US|1|289|0.00346	-	-	mortality/aging	-	COSMIC,TCGA,ICGC,
chr3	49884958	49884958	C	A	exonic	TRAIP	nonsynonymous	SNV	0.018	0.704	-	-	-	-	-	-	-	COSM5059819	-	-	-	-	mortality/aging	-	COSMIC,
chr8	110966994	110966994	C	A	intergenic	SYBU,KCNV1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,behavior/neurological phenotype	-,-	ICGC,
chr21	31846330	31846330	T	C	intergenic	KRTAP15-1,KRTAP19-1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr14	97415757	97415757	A	C	intergenic	LINC00618,LOC101929241	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr10	82575140	82575140	T	G	intergenic	SH2D4B,NRG3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,integument phenotype	-,Schizophrenia, association with |Increased ventrolateral PFC activation|Hirschsprung disease  	ICGC,
chr7	86238011	86238011	C	A	intergenic	SEMA3D,GRM3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,behavior/neurological phenotype	Total anomalous pulmonary venous connection|Tetralogy of Fallot|Hirschsprung disease   ,Schizophrenia, association with|Major depressive disorder, association with	ICGC,
chr6	40557115	40557115	A	G	intergenic	LRFN2,LOC101929555	unknown	SNV	-	-	-	0.4706	rs2473596	-	0.426917	-	0.536	-	-	LAML-KR|1|205|0.00488	-	-	mortality/aging,-	-,-	ICGC,
chr1	51083129	51083129	T	A	intronic	FAF1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging	Pierre Robin sequence  	ICGC,
chr3	121847025	121847025	C	T	intergenic	CD86,CASR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype,integument phenotype	Systemic sclerosis, association with|Osteosarcoma, increased risk|Liver transplant, reduced risk of acute rejection|Ewing's Sarcoma, increased risk|Colorectal cancer, increased risk, association with |Colorectal cancer, increased risk|Chronic obstructive pulmonary disease, association with|Asthma, association with,Hypocalcaemia with hypercalciuria|Hypoparathyroidism|Hypoparathyroidism, autosomal dominant|Increased blood ionised calcium level|Increased serum ionized calcium, association with|Lower iCa levels, association with|Lower serum PTH levels and higher urinary calcium excretion, assoc. with|Neonatal hyperparathyroidism|Nephrolithiasis, association with|Pancreatitis  |Primary hyperparathyroidism with familial hypocalciuric hypercalcaemia.|Recurrent calcium kidney stone disease, association with|Serum calcium levels, association with|Tropical chronic pancreatitis|Hypocalcaemia|Hypertriglyceridaemia, increased risk|Hyperparathyroidism, neonatal primary|Chronic pancreatitis, association with|Colorectal adenoma, risk, association with|Epilepsy, idiopathic generalised |Higher iCa levels, association with|Higher total and ionised calcium concentrations, association|Hypercalcaemia  |Hypercalcaemia and hypercalciuria|Hypercalcaemia, association with|Hyperparathyroidism|Hypercalciuria, hypocalcaemic|Hypercalcaemia, hypocalciuric & hypoparathyroidism|Hypercalcaemia, hypocalciuric & hyperparathyroidism.|Hypercalcaemia, hypocalciuric & hyperparathyroidism|Hypercalcaemia, hypocalciuric 	ICGC,
chr4	62505423	62505423	A	C	intronic	LPHN3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25678942	-	MALY-DE|1|241|0.00415	-	-	behavior/neurological phenotype	-	COSMIC,ICGC,
chr5	66170541	66170541	C	T	intronic	MAST4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-	Potential protein deficiency	ICGC,
chr13	65389891	65389891	C	T	intergenic	OR7E156P,PCDH9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr15	70931332	70931332	G	A	intergenic	TLE3,UACA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,integument phenotype	-,Colorectal cancer |Schizophrenia	ICGC,
chr15	81973911	81973911	A	G	intergenic	LOC101929655,MEX3B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr8	144448765	144448765	G	T	downstream	RHPN1-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr4	112049125	112049125	C	T	intergenic	PITX2,C4orf32	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Ring dermoid of the cornea|Rieger syndrome|Peter anomaly|Omphalocele, association with |Omphalocele|Iris hypoplasia|Iridogoniodysgenesis syndrome|Craniofacial/acallosal CNS midline defects|Axenfeld-Rieger syndrome|Anterior segment dysgenesis,-	ICGC,
chr8	37851916	37851916	C	T	intergenic	ADRB3,EIF4EBP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	behavior/neurological phenotype,cellular phenotype	Hyperuricaemia, association with|Hyperuricemia, increased risk, association with|Idiopathic overactive bladder, association with|Metabolic syndrome in males, association with|Metabolic syndrome, in males, association with|Hypertensive cardiovascular disease, association with|Hyperinsulinaemia, association with|Higher body fat percentage, association with|Gout, increased risk, association with|Elite endurance performance, association with|Diabetes, type 2, increased risk|Decreased fat oxidation during rest and aerobic exercise, association with|Body mass index gain, with age, association with.,-	ICGC,
chr2	73380710	73380710	-	T	intergenic	RAB11FIP5,NOTO	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,mortality/aging	Autism spectrum disorder,-	ICGC,
chr2	233983301	233983301	T	C	intronic	INPP5D	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	-	ICGC,
chr11	112325882	112325882	G	A	intergenic	PLET1,LOC101928823	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,-	-,-	ICGC,
chr12	7639526	7639526	G	A	exonic	CD163	nonsynonymous	SNV	1.0	0.002	-	-	-	-	-	-	-	COSM3465427	SKCM|1|368|0.00272	SKCM-US|1|335|0.00299	-	-	-	Schizophrenia	COSMIC,COSMIC,TCGA,ICGC,
chr10	135099060	135099060	C	T	exonic	TUBGCP2	nonsynonymous	SNV	0.168	0.178	-	-	-	-	-	-	-	COSM4012912	STAD|1|395|0.00253,STES|1|395|0.00253	STAD-US|1|289|0.00346	-	-	-	-	COSMIC,TCGA,ICGC,
chr21	28567949	28567949	G	A	intergenic	ADAMTS5,MIR5009	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype,-	-,-	ICGC,
chr17	42635479	42635479	C	T	exonic	FZD2	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM1128689	PRAD|1|499|0.00200	PRAD-US|1|256|0.00391	-	-	mortality/aging	-	COSMIC,TCGA,ICGC,
chr2	195719558	195719558	T	C	intergenic	LOC101927431,SLC39A10	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6162084	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr6	62687904	62687904	G	T	intronic	KHDRBS2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr1	5361780	5361780	A	C	intergenic	AJAP1,MIR4417	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8141682	-	BTCA-SG|1|71|0.01408,PACA-CA|1|268|0.00373	-	-	-,-	-,-	COSMIC,ICGC,
chr9	16310307	16310307	C	T	intergenic	C9orf92,BNC2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24097974	-	BRCA-FR|1|72|0.01389	-	-	-,mortality/aging	-,Total anomalous pulmonary venous return |Partial anomalous pulmonary venous return |Hypospadias & partial anomalous pulmonary venous return |Hypospadias 	COSMIC,ICGC,
chrX	118667024	118667024	C	T	intergenic	SLC25A5,CXorf56	unknown	SNV	-	-	-	4.811e-05	-	-	-	-	-	COSN15338564	-	PRAD-UK|1|140|0.00714	-	-	cellular phenotype,embryogenesis phenotype	Intellectual disability, nonsyndromic,-	COSMIC,ICGC,
chr4	100699713	100699713	A	G	intergenic	MTTP,DAPP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	mortality/aging,hematopoietic system phenotype	Total cholesterol levels, association with|Reduced transcriptional activity|Nonalcoholic fatty liver disease, association with|Microsomal triglyceride transfer protein deficiency, mild|Lower plasma LDL cholesterol, association with|Increased malondialdehyde-modified low-density lipoprotein levels, association with|Hypercholesterolemia, modifier of|Diabetes, type 2, association with|Diabetes, MODY |Abetalipoproteinaemia,Autism	ICGC,
chr4	95944569	95944569	G	C	intronic	BMPR1B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17641997	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Pulmonary arterial hypertension|Prostate cancer, localised, association with|Breast cancer, increased risk, association with|Brachydactyly type A2|Acromesomelic chondrodysplasia, genital anomalies	COSMIC,ICGC,
chr1	69802833	69802833	G	A	intergenic	DEPDC1-AS1,LRRC7	unknown	SNV	-	-	-	3.229e-05	rs770521150	-	-	-	-	COSN7278304	-	PACA-AU|1|391|0.00256	-	-	-,mortality/aging	-,-	COSMIC,ICGC,
chr4	118952053	118952053	G	A	intergenic	TRAM1L1,NDST3	unknown	SNV	-	-	-	0.3169	rs13152388	-	-	-	-	COSN24334854	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,-	COSMIC,ICGC,
chr12	126527441	126527441	G	-	intergenic	LINC00939,LOC101927464	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr8	93244931	93244931	-	AGTGTG	intergenic	RUNX1T1,FLJ46284	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	integument phenotype,-	Intellectual disability  ,-	ICGC,
chr16	90074388	90074388	C	T	intronic	DBNDD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr14	94996404	94996404	T	A	intergenic	SERPINA12,SERPINA4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Reduced circulating vaspin concentrations,-	ICGC,
chr11	110523158	110523158	G	T	intronic	ARHGAP20	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-	-	ICGC,
chr14	91545242	91545242	-	TTTT	intergenic	RPS6KA5,C14orf159	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|7|67|0.10448	-	-	integument phenotype,-	-,-	ICGC,
chr20	34090979	34090979	G	A	exonic	CEP250	synonymous	SNV	-	-	0.0090	0.0108	rs41290924	0.0090	0.00599042	0.0119	0.007	-	-	GACA-JP|1|585|0.00171	-	-	-	-	ICGC,
chr1	232276445	232276445	G	A	intergenic	TSNAX-DISC1,SIPA1L2	unknown	SNV	-	-	-	3.229e-05	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr9	24854164	24854164	C	T	intergenic	IZUMO3,TUSC1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr12	47855610	47855610	A	T	intergenic	PCED1B,RPAP3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	102532619	102532622	TATT	-	intergenic	FLJ20021,BANK1	unknown	deletion	-	-	-	6.478e-05	-	-	-	-	-	COSN25286536	-	MALY-DE|1|241|0.00415	-	-	-,hematopoietic system phenotype	-,Systemic sclerosis, susceptibility to, association with|Systemic lupus erythematosus, protection against, association|Rheumatoid arthritis|Psoriasis, early disease onset, association with.|Diffuse systemic sclerosis, susceptibility to, association with	COSMIC,ICGC,
chr3	89674617	89674617	G	A	intergenic	EPHA3,NONE	unknown	SNV	-	-	-	0.0002	rs530450075	-	-	-	-	COSN23424020	-	EOPC-DE|1|202|0.00495	-	-	mortality/aging,-	Oligozoospermia|Schizophrenia    |Sertoli-cell-only syndrome,-	COSMIC,ICGC,
chr14	98758695	98758695	C	T	intergenic	C14orf64,C14orf177	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr9	120666790	120666790	G	A	intergenic	TLR4,BRINP1	unknown	SNV	-	-	-	0.0035	rs537405079	-	0.000798722	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Phenotypic variation in haemochromatosis, association with|Periodontitis, association with|Pancreatic necrotic infection, association with|Negative association with FMF|Nasopharyngeal cancer, increased risk, association with|Moraxella catarrhalis infection, increased risk, association with|Metabolic syndrome, association with|Meningococcal disease susceptibility|Meningococcal disease mortality|Lung function, association with|Lower left ventricular mass, in hypertensive women, association|Increased risk of cirrhosis in chronic hepatitis C ?|Increased liver and body fat, association with|Potential protein deficiency|Preterm birth and premature rupture of membranes, association with|Tuberculosis susceptibility, in HIV-infected patients, association|Serious infection, in HIV-1 patients, association with|Retinitis pigmentosa |Reduced LPS-induced IL-12 secretion, association with|Reduced expression|Pulmonary tuberculosis, susceptibility and severity, association|Pulmonary tuberculosis, severity, association with|Protection from urinary tract infection, association with|Protection against being overweight|Prostate cancer, increased risk|Prostate cancer risk, association with|Primary open-angle, normal-tension, and exfoliation glaucoma, association with.|Typhoid infection, increased risk, association with|Increased IL-4 secretion response to measles vaccination, association|Cutaneous leishmaniasis, association with|Crohn's disease, association with|Colorectal cancer, association with.|Colorectal cancer risk, association with|Cervical cancer, early stage, association with|Cancer, increased risk, association with|Bronchopulmonary Dysplasia, infant, association with|Breast cancer, association with.|Behcet disease, protection against, association with|Altered monocyte receptor levels|Acute pyelonephritis, reduced risk in adults, association with|Acute pyelonephritis, in children, association with|Diabetes, type 2, protection against, association with|Digestive system cancer, increased risk & prostate cancer, protection against, association with|Emphysema, association with|Increased expression|Helicobacter pylori-related gastric atrophy, association with|HBV recurrence after liver transplantation, association with|Guillain-Barré syndrome, association with|Guillain-Barré syndrome, AMAN sub-type, association with|Gastritis, association with|Gastric carcinoma, association with|Endometriosis, association with|Endotoxin hyporesponsiveness, association with|Extra-intestinal manifestations in Crohn's disease, association with.|Gastric adenocarcinoma, association with|Gastric cancer, association with,-	ICGC,
chr11	79567559	79567559	G	A	intergenic	TENM4,LOC101928944	unknown	SNV	-	-	-	0.0032	rs552122641	-	0.000798722	-	-	-	-	SKCA-BR|1|100|0.01000,PBCA-US|1|186|0.00538	-	-	mortality/aging,-	-,-	ICGC,
chr14	83361628	83361628	A	G	intergenic	LOC101928559,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	22227634	22227634	G	A	intronic	CDH12	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	Lung cancer, susceptibility to, association with	ICGC,
chr4	12436279	12436279	G	A	intergenic	HS3ST1,RAB28	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	mortality/aging,-	-,Breast cancer risk, association with |Cone-rod dystrophy, autosomal recessive	ICGC,
chr7	52889552	52889552	C	T	intergenic	COBL,POM121L12	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	nervous system phenotype,-	-,-	ICGC,
chr6	141701701	141701701	-	CATA	intergenic	MIR4465,NMBR	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,behavior/neurological phenotype	-,-	ICGC,
chr1	17312704	17312704	C	T	exonic	ATP13A2	nonsynonymous	SNV	0.005	0.002	4.184e-06	-	rs781221410	9.841e-06	-	-	-	COSM6227407	-	COCA-CN|1|321|0.00312	-	-	-	Kufor Rakeb syndrome|Spastic paraplegia and parkinsonism|Parkinsonism, pyramidal disturbances & oculomotor abnormalities|Parkinsonism, juvenile|Parkinsonism with dementia|Parkinson disease, increased risk |Parkinson disease, familial |Parkinson disease|Neuronal ceroid lipofuscinosis  |Manganese toxicity, association with|Kufor-Rakeb syndrome	COSMIC,ICGC,
chr4	97505897	97505897	C	T	intergenic	PDHA2,STPG2-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	ICGC,
chr1	153336837	153336837	G	A	intergenic	S100A9,S100A12	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	-,-	ICGC,
chr3	90439113	90439113	C	T	intergenic	EPHA3,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Oligozoospermia|Schizophrenia    |Sertoli-cell-only syndrome,-	ICGC,
chr15	98016600	98016600	-	A	ncRNA_intronic	LOC101927286	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN22791393	-	-	-	-	-	-	COSMIC,
chr12	42150318	42150318	A	G	intergenic	PDZRN4,GXYLT1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7370517	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	COSMIC,ICGC,
chr7	150765069	150765069	C	T	exonic	SLC4A2	nonsynonymous	SNV	0.009	0.98	-	-	-	-	-	-	-	COSM3765337	-	PBCA-DE|1|499|0.00200	-	-	mortality/aging	-	COSMIC,ICGC,
chr6	96634015	96634015	C	T	intronic	FUT9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	normal phenotype	-	ICGC,
chr12	4097412	4097412	G	A	intergenic	PARP11,CCND2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Diabetes, type 2, reduced risk|Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome	ICGC,
chr10	30338767	30338767	C	T	intronic	KIAA1462	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Autism|Coronary artery disease, association with	ICGC,
chr3	26705019	26705019	G	A	intronic	LRRC3B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27108062	-	ESAD-UK|1|301|0.00332	-	-	nervous system phenotype	-	COSMIC,ICGC,
chr2	208502944	208502944	G	T	intergenic	METTL21A,CCNYL1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15691450	-	LIRI-JP|1|258|0.00388	-	-	-,integument phenotype	-,-	COSMIC,ICGC,
chr1	199123598	199123598	A	C	intergenic	LINC01222,NR5A2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22317271	-	BRCA-EU|1|569|0.00176	-	-	-,mortality/aging	-,-	COSMIC,ICGC,
chr2	205923833	205923833	G	A	intronic	PARD3B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25441373	-	MALY-DE|1|241|0.00415,MELA-AU|1|183|0.00546	-	-	-	AIDS progression, protection, association with	COSMIC,ICGC,
chr19	54841354	54841354	G	A	intergenic	LILRA5,LILRA4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	ICGC,
chr18	54080919	54080919	G	A	intergenic	LOC100505474,TXNL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	ICGC,
chr13	86426130	86426130	GG	AA	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr2	202899482	202899482	G	A	exonic	FZD7	nonsynonymous	SNV	0.095	0.474	1.221e-05	-	rs747045136	8.314e-06	-	-	-	COSM4685977	-	-	-	-	integument phenotype	-	COSMIC,
chr6	158294119	158294119	-	T	intronic	SNX9	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	-	ICGC,
chr18	515477	515477	G	A	intergenic	COLEC12,CETN1	unknown	SNV	-	-	-	3.229e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr16	83386280	83386280	G	A	intronic	CDH13	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	CLLE-ES|1|510|0.00196	-	-	mortality/aging	Higher adiponectin levels|Amyotrophic lateral sclerosis 	ICGC,
chr5	169170557	169170557	C	T	intronic	DOCK2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	-	ICGC,
chr10	106945507	106945507	T	A	intronic	SORCS3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr18	2373760	2373760	C	T	intergenic	LINC00470,METTL4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|2|100|0.02000,MELA-AU|3|183|0.01639	-	-	-,-	-,-	ICGC,
chrX	83619032	83619032	A	C	intronic	HDX	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25563278	-	MALY-DE|1|241|0.00415	-	-	normal phenotype	Premature ovarian failure |Mental retardation, X-linked	COSMIC,ICGC,
chr8	5186781	5186781	C	A	intergenic	CSMD1,LOC100287015	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	Schizophrenia, association with |Hyperinsulinism|Autism|Attention deficit hyperactivity disorder ,-	ICGC,
chr16	81934455	81934455	C	T	intronic	PLCG2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	integument phenotype	Cold-induced urticaria, immunodeficiency & autoimmunity|Autoinflammatory disease with immunodeficiency	ICGC,
chr17	20876088	20876088	G	-	ncRNA_intronic	LOC339260	unknown	deletion	-	-	-	-	-	-	-	-	-	COSN22847094	-	BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr5	33539291	33539291	C	A	intronic	ADAMTS12	unknown	SNV	-	-	-	0.3949	rs256644	-	0.545527	-	0.471	-	-	ESAD-UK|1|301|0.00332	-	-	cardiovascular system phenotype	-	ICGC,
chr15	99147729	99147729	C	T	intergenic	FAM169B,IGF1R	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23566978	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	-,Pacreatic cancer, clinical outcome, association with |Papillary thyroid carcinoma, association with|Psychiatric disorders  |Short stature|Short stature & intrauterine growth retardation|Short stature, association with|Short staure & intrauterine growth retardation|Silver-Russell syndrome |Single suture craniosynostosis |Overgrowth|Lipodystrophy |Left ventricular mass in male athletes, association with|Autoaggressive behaviour|Breast cancer, association with |Growth retardation|Growth retardation & microcephaly|Growth retardation, intrauterine & postnatal|Growth retardation, microcephaly & Silver-Russell syndrome features|Increased longevity|Intrauterine growth retardation, dysmorphic features & insulin resistance|Ischaemic stroke risk	COSMIC,ICGC,
chr5	155981653	155981653	-	TA	intronic	SGCD	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325,PACA-CA|1|268|0.00373	-	-	mortality/aging	Muscular dystrophy, limb girdle 2F|Muscular dystrophy, limb girdle 2 |Muscular dystrophy, limb girdle|Cardiomyopathy, dilated|Anorectal malformation	ICGC,
chr22	39627804	39627804	C	T	exonic	PDGFB	nonsynonymous	SNV	0.286	0.0	4.107e-06	-	rs770065392	9.185e-06	-	-	-	COSM3554493	SKCM|1|368|0.00272	SKCM-US|1|335|0.00299	-	-	integument phenotype	Basal ganglia calcification, idiopathic|Meningioma	COSMIC,COSMIC,COSMIC,TCGA,ICGC,
chr13	106607317	106607317	A	G	intergenic	LINC00343,LINC00460	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN18913001	-	-	-	-	-,-	-,-	COSMIC,
chr4	22129787	22129787	T	C	intergenic	KCNIP4,LOC100505912	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	Renal cell carcinoma ,-	ICGC,
chr15	98710031	98710031	A	G	intergenic	LOC101927332,FAM169B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24481939	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	COSMIC,ICGC,
chr5	140516141	140516141	G	T	exonic	PCDHB5	synonymous	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr6	141471265	141471265	C	T	intergenic	MIR4465,NMBR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,behavior/neurological phenotype	-,-	ICGC,
chr6	23053207	23053211	CTTTT	-	intergenic	HDGFL1,NRSN1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr4	173634971	173634971	C	T	intronic	GALNTL6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr2	187808595	187808595	A	G	intergenic	ZSWIM2,CALCRL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-,integument phenotype	-,-	ICGC,
chr3	174454092	174454092	G	A	intergenic	NLGN1,NAALADL2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	mortality/aging,-	Microcephaly, seizure disorder & intellectual disability |Autism spectrum disorder  |Autism|Anorectal malformation,-	ICGC,
chr12	24009371	24009371	T	C	intronic	SOX5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Intellectual disability  |Developmental delays|Autism spectrum disorder  	ICGC,
chr21	28424447	28424447	C	T	intergenic	ADAMTS5,MIR5009	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27991682	-	PRAD-CA|1|308|0.00325	-	-	integument phenotype,-	-,-	COSMIC,ICGC,
chr10	55214628	55214628	C	A	intergenic	MBL2,PCDH15	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	hematopoietic system phenotype,vision/eye phenotype	Leprosy, association with|Lung cancer survival, association with|Mannose-binding protein deficiency, association|Placental malaria, susceptibility to, association with|Systemic lupus erythematosus, association with|Tuberculosis, protection against, association with|Type 2 diabetes, association with|Ulcerative colitis, association with.|Vulvovaginal candidiasis, recurrent, association with|Lepromatous leprosy, protection against, association with|Kawasaki disease, association with|Antiphospholipid syndrome, association with|Bacterial infection, increased risk, association with|Colon cancer, association with|Crohn's disease, in children, association with|Dental caries, association with.|HIV-1 infection, increased susceptibility, association with|HIV-1 infection, susceptibility, association|Increased serum MBL level |Infection, in children, association with.,Usher syndrome II|Usher syndrome 1f|Usher syndrome 1|Lipid levels in hyperlipidaemia, association with|Hearing loss, non-syndromic|Deafness, non-syndromic, autosomal recessive|Deafness, non-syndromic |Deafness  	ICGC,
chr11	78327263	78327263	C	T	intergenic	NARS2,TENM4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BOCA-UK|1|130|0.00769	-	-	-,mortality/aging	Potential protein deficiency,-	ICGC,
chrX	5142721	5142721	A	T	intergenic	LOC101928201,NLGN4X	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25826725	-	EOPC-DE|1|202|0.00495	-	-	-,-	-,Potential protein deficiency|Mental retardation|Kallmann syndrome and ichthyosis|Intellectual disability, short stature & hydrocephaly|Intellectual disability, Kallmann syndrome & ichthyosis|Intellectual disability, behavioural difficulties, ichthyosis & hypogonadotrophic hypogonadism|Intellectual disability, autism spectrum disorder & short stature|Developmental delay, hypospadias & ichthyosis|Developmental delay, autism spectrum disorder, micropenis & ichthyosis|Developmental delay  |Autism, association with|Autism and mental retardation|Autism 	COSMIC,ICGC,
chr6	91629140	91629140	T	-	intergenic	MAP3K7,MIR4643	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	mortality/aging,-	-,-	ICGC,
chr11	111844587	111844587	C	T	intronic	DIXDC1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-	-	ICGC,
chr8	2667023	2667023	C	T	intergenic	MYOM2,CSMD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,Schizophrenia, association with |Hyperinsulinism|Autism|Attention deficit hyperactivity disorder 	ICGC,
chr7	108044624	108044624	-	A	intronic	NRCAM	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging	-	ICGC,
chr8	48989211	48989211	C	A	intergenic	UBE2V2,LOC101929268	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr3	162179513	162179513	G	T	intergenic	OTOL1,LINC01192	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr2	171149857	171149857	T	A	intronic	MYO3B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8273528	-	PACA-CA|1|268|0.00373	-	-	-	-	COSMIC,ICGC,
chr5	151369075	151369075	T	C	ncRNA_intronic	CTB-12O2.1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2077019	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr7	29668947	29668947	G	A	intergenic	PRR15,LOC646762	unknown	SNV	-	-	-	3.239e-05	rs776533046	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-,-	-,-	ICGC,
chr10	6578876	6578876	C	T	intronic	PRKCQ	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	-	ICGC,
chr8	133235710	133235710	T	G	intronic	KCNQ3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24791300	-	GACA-CN|1|123|0.00813	-	-	mortality/aging	Seizures, benign infantile|Intellectual disability, nonsyndromic|Epilepsy, rolandic without neonatal seizures|Epilepsy, rolandic & benign neonatal convulsions|Epilepsy, idiopathic  |Epilepsy, benign neonatal|Benign familial neonatal convulsions	COSMIC,ICGC,
chr8	132583353	132583353	C	A	intergenic	ADCY8,EFR3A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Myocardial infarction  ,Autism|Potential protein deficiency	ICGC,
chr20	8360900	8360900	T	G	intronic	PLCB1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	mortality/aging	Wolff-Parkinson-White syndrome|Schizophrenia  |Malignant migrating partial seizures in infancy|Epileptic encephalopathy, severe infantile|Epileptic encephalopathy, early onset|Atrioventricular septal defects	ICGC,
chr19	30753288	30753288	G	A	intergenic	URI1,ZNF536	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,Schizophrenia	ICGC,
chr15	25052164	25052164	C	T	intergenic	NPAP1,SNRPN	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,Prader-Willi syndrome|Asperger syndrome|Angelman syndrome	ICGC,
chr10	88328440	88328440	C	T	intergenic	WAPAL,OPN4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,vision/eye phenotype	-,Seasonal affective disorder, association with|Pupillary light response, association with	ICGC,
chr3	39735243	39735243	A	C	intergenic	MOBP,MYRIP	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,-	-,-	ICGC,
chr12	42186068	42186068	C	T	intergenic	PDZRN4,GXYLT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr7	114972435	114972435	A	G	intergenic	LINC01393,TFEC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,integument phenotype	-,-	ICGC,
chr1	115550620	115550620	T	G	intergenic	SYCP1,TSHB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	reproductive system phenotype,-	-,Hypothyroidism|Thyroid-stimulating hormone deficiency	ICGC,
chrX	117112106	117112106	G	A	intronic	KLHL13	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Peripheral neuropathy  	ICGC,
chr16	24684055	24684055	G	A	intergenic	LOC400511,TNRC6A	unknown	SNV	-	-	-	0.0417	rs12597894	-	0.151158	-	0.058	-	-	LAML-KR|1|205|0.00488	-	-	-,integument phenotype	-,-	ICGC,
chr1	2517676	2517676	C	T	upstream	FAM213B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	-	-	ICGC,
chr2	6659515	6659515	A	G	intergenic	LINC01247,LINC01246	unknown	SNV	-	-	-	0.3394	rs10206632	-	0.233027	-	0.391	-	-	ESAD-UK|2|301|0.00664	-	-	-,-	-,-	ICGC,
chr17	68121302	68121302	T	C	intronic	KCNJ16	unknown	SNV	-	-	-	0.0007	rs546750331	-	0.000199681	-	-	-	-	PBCA-US|1|186|0.00538	-	-	integument phenotype	-	ICGC,
chr11	17361981	17361981	T	C	intergenic	NUCB2,NCR3LG1	unknown	SNV	-	-	-	3.275e-05	rs550388401	-	0.000998403	-	-	-	-	PBCA-US|1|186|0.00538	-	-	cardiovascular system phenotype,-	Childhood adiposity, reduced risk|Obesity |Obesity, male, association with,-	ICGC,
chr15	26800829	26800829	C	A	intronic	GABRB3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	mortality/aging	Neurological deficits of Angelman syndrome|Mesial temporal lobe epilepsy with depression, association with|Increased promoter activity|Epilepsy, childhood absence, association with|Chronic insomnia |Autism, association with |Autism spectrum disorder|Anorectal malformation	ICGC,
chr15	22409350	22409350	G	A	intergenic	OR4N4,OR4N3P	unknown	SNV	-	-	-	0.0182	rs28452750	-	-	-	0.014	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr9	76714454	76714454	C	T	ncRNA_intronic	MIR6130	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22305633	-	BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr1	176530182	176530182	G	A	intronic	PAPPA2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype	-	ICGC,
chr4	174935037	174935037	A	-	intergenic	HAND2-AS1,FBXO8	unknown	deletion	-	-	-	-	-	-	-	-	-	COSN22890413	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr3	28108552	28108552	C	T	intergenic	EOMES,CMC1	unknown	SNV	-	-	-	-	rs578013342	-	0.000199681	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging,-	Altered p53 binding|Microcephaly with polymicrogyria,-	ICGC,
chr5	62418611	62418611	C	A	intergenic	IPO11,HTR1A	unknown	SNV	-	-	-	0.0149	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,mortality/aging	-,Tourette syndrome |Reduced expression|Personality disorders, association with.|Menstrual cycle-dependent fever|Major depression and suicide, association with|Major depression|Impulsive behaviour, association with|Epileptic seizures |Comorbid depression and generalized anxiety, association with|Attenuated agonist-mediated receptor down-regulation and desensitization	ICGC,
chr1	212229694	212229694	C	T	intronic	DTL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	-	ICGC,
chr6	85925278	85925278	G	A	intergenic	TBX18,NT5E	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype,hematopoietic system phenotype	Autism,Arterial & joint calcifications, symptomatic	ICGC,
chr1	248489724	248489724	G	A	intergenic	OR2M7,OR14C36	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chrX	86865968	86865968	T	A	intronic	KLHL4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25123670	-	MALY-DE|1|241|0.00415	-	-	-	-	COSMIC,ICGC,
chr10	71588010	71588010	G	A	intronic	COL13A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538,MELA-AU|1|183|0.00546	-	-	other phenotype	-	ICGC,
chr20	12075775	12075775	C	T	intergenic	BTBD3,LOC101929486	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	12136494	12136494	A	G	intergenic	HS3ST1,RAB28	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	-,Breast cancer risk, association with |Cone-rod dystrophy, autosomal recessive	ICGC,
chr5	128990473	128990473	T	G	intronic	ADAMTS19	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19359765	-	LICA-FR|1|252|0.00397	-	-	-	-	COSMIC,ICGC,
chr3	22756265	22756265	C	G	intergenic	ZNF385D-AS2,UBE2E2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr3	103080439	103080439	C	T	intergenic	ZPLD1,MIR548A3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Cerebral cavernous malformations,-	ICGC,
chr13	54681718	54681718	C	T	intergenic	LINC00558,LINC00458	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr15	94116083	94116083	-	GCCCACCC	intergenic	RGMA,LOC101927153	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	mortality/aging,-	Autism,-	ICGC,
chr14	38221045	38221045	-	TT	intergenic	FOXA1,SSTR1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	integument phenotype,vision/eye phenotype	Impaired glucose homeostasis ,-	ICGC,
chr9	91507030	91507030	C	A	intergenic	MIR4289,C9orf47	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	ICGC,
chr3	54610192	54610192	G	A	intronic	CACNA2D3	unknown	SNV	-	-	-	-	rs560996567	-	-	-	-	COSN9721726	-	RECA-EU|1|422|0.00237,MELA-AU|1|183|0.00546	-	-	integument phenotype	Autism 	COSMIC,ICGC,
chrX	112609959	112609959	C	A	ncRNA_intronic	LOC101928437	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6483219	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr7	71739970	71739970	C	T	intronic	CALN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	-	ICGC,
chr14	86877352	86877352	G	A	intergenic	LOC101928767,LOC283585	unknown	SNV	-	-	-	9.706e-05	rs866810234	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr3	160333575	160333575	G	A	intergenic	KPNA4,ARL14	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	normal phenotype,-	-,-	ICGC,
chr14	106663830	106663830	G	A	intergenic	ADAM6,LINC00226	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	125040767	125040767	G	A	intergenic	LINC01091,LOC101927087	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19470763	-	-	-	-	-,-	-,-	COSMIC,
chr3	106162012	106162012	C	T	intergenic	CBLB,LINC00882	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Diabetes, type 1,-	ICGC,
chr2	84480631	84480631	G	A	intergenic	LOC1720,FUNDC2P2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr22	38401968	38401968	G	A	intergenic	MIR4534,PICK1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,reproductive system phenotype	-,Altered transcriptional activity|Globozoospermia	ICGC,
chr10	16208790	16208790	C	A	intergenic	FAM188A,PTER	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Non-small-cell lung cancer, increased risk, association with,-	ICGC,
chr10	122499629	122499629	T	G	ncRNA_intronic	MIR5694	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr19	31573318	31573318	C	A	intergenic	ZNF536,TSHZ3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	Schizophrenia,-	ICGC,
chr8	4453349	4453349	T	A	intronic	CSMD1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN18815428	-	-	-	-	-	Schizophrenia, association with |Hyperinsulinism|Autism|Attention deficit hyperactivity disorder 	COSMIC,
chr4	37004037	37004037	G	A	intergenic	DTHD1,MIR4801	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22523546	-	BRCA-EU|1|569|0.00176	-	-	-,-	Leber congenital amaurosis with myopathy,-	COSMIC,ICGC,
chr5	30088542	30088542	G	A	intergenic	LOC101929681,CDH6	unknown	SNV	-	-	-	0.0015	rs185514290	-	0.00219649	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,renal/urinary system phenotype	-,-	ICGC,
chr11	99831937	99831937	-	GAGAA	intronic	CNTN5	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|2|100|0.02000	-	-	behavior/neurological phenotype	-	ICGC,
chr4	59846115	59846115	-	A	intergenic	IGFBP7-AS1,NONE	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr8	121965674	121965674	C	T	intergenic	SNTB1,HAS2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Ventricular septal defect	ICGC,
chr7	93125913	93125913	C	T	intronic	CALCR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	mortality/aging	Lower lumbar bone mineral density, association	ICGC,
chr10	64781484	64781484	T	A	intergenic	EGR2,NRBF2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22613079	-	BRCA-EU|1|569|0.00176	-	-	integument phenotype,-	Systemic lupus erythematosus, association with|Neuropathy, congenital hypomyelinating|Hereditary motor & sensory neuropathy|Dejerine-Sottas syndrome|Charcot-Marie-Tooth disease, demyelinating|Charcot-Marie-Tooth disease 1|Amyelinating myopathy, congenital,-	COSMIC,ICGC,
chr17	12933373	12933374	CT	-	intergenic	ELAC2,HS3ST3A1	unknown	deletion	-	-	-	0	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	Prostate cancer, association with|Prostate cancer|Hypertrophic cardiomyopathy and complex I deficiency|Benign prostatic hyperplasia, association with,-	ICGC,
chr6	51477802	51477802	T	C	intergenic	TFAP2B,PKHD1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6323783	-	LIRI-JP|1|258|0.00388	-	-	integument phenotype,mortality/aging	Patent ductus arteriosus|Nonsyndromic patent ductus arteriosus|Neonatal temperament, association with|Increased expression, association with|Female alcoholism, severe, association with|Endocardial cushion defect|Diabetes, type 2, asssociation with|Char syndrome|Cardiac defects,Renal cystic disease and hepatic fibrosis.|Protection against colorectal cancer|Polycystic kidney disease |Caroli disease	COSMIC,ICGC,
chr6	56422136	56422136	G	T	exonic	DST	nonsynonymous	SNV	0.034	1.0	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	integument phenotype	Epidermolysis bullosa simplex|Epidermolysis bullosa simplex, autosomal recessive|Oesophageal atresia and psychomotor retardation	ICGC,
chr6	114317307	114317307	-	GTTC	intergenic	HDAC2,HS3ST5	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	mortality/aging,-	-,-	ICGC,
chr9	3301366	3301366	-	T	intronic	RFX3	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	mortality/aging	Developmental delay  |Developmental delay & postnatal growth retardation|Developmental delay and dysmorphic features|Developmental delay, pervasive developmental delay & epilepsy|Intellectual disability & behavioural problems|Mental retardation & developmental delay	ICGC,
chr17	73231625	73231625	A	G	intronic	NUP85	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr4	83040987	83040987	C	T	intergenic	RASGEF1B,HNRNPD	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,immune system phenotype	Mental retardation, in chromosome 4q21 deletion syndrome,-	ICGC,
chr1	177165808	177165808	C	T	intronic	BRINP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr12	98200356	98200356	G	C	intergenic	LOC643711,MIR4303	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22476746	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr1	105231562	105231562	T	C	intergenic	LOC100129138,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr18	63288522	63288522	G	C	intergenic	LOC284294,CDH7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr17	63821027	63821027	G	A	intronic	CEP112	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN18838002	-	-	-	-	-	-	COSMIC,
chrX	91828077	91828077	G	A	intronic	PCDH11X	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176,MALY-DE|1|241|0.00415	-	-	-	Absent speech, intellectual disability & behavioural problems|Attention deficit hyperactivity disorder & obsessive compulsive disorder|Developmental dyslexia |Language delay, nonsyndromic 	ICGC,
chr18	66004810	66004810	G	A	intergenic	LOC643542,TMX3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	ICGC,
chr16	83741462	83741462	-	AAAAAAAAAAAAAAAA	intronic	CDH13	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	mortality/aging	Higher adiponectin levels|Amyotrophic lateral sclerosis 	ICGC,
chr8	26920032	26920032	C	T	intergenic	ADRA1A,STMN4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Increased receptor signalling|Hypertension, association with |Decreased binding affinity|Complex regional pain syndrome, association with|Altered antagonist binding,-	ICGC,
chr5	119071177	119071177	C	T	intergenic	FAM170A,PRR16	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr17	42278867	42278867	C	T	intergenic	ATXN7L3,UBTF	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr9	10532463	10532463	-	TTAA	intronic	PTPRD	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	integument phenotype	Restless legs syndrome, association with|Ewing sarcoma	ICGC,
chrX	107978413	107978413	C	T	exonic	IRS4	nonsynonymous	SNV	0.002	0.913	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	reproductive system phenotype	Schizophrenia 	ICGC,
chr1	105033555	105033555	G	C	intergenic	LOC100129138,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5995851	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chrX	108797964	108797964	T	C	intergenic	NXT2,KCNE1L	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Idiopathic ventricular fibrillation|Atrial fibrillation, lone, early-onset|Atrial fibrillation	ICGC,
chr13	49039467	49039467	G	-	exonic	RB1	frameshift	deletion	-	-	-	-	rs587778837	-	-	-	-	-	-	-	Retinoblastoma	-	integument phenotype	Retinocytoma.|Retinoblastoma, in 13q deletion syndrome|Retinoblastoma|Ovarian cancer ?|Ovarian cancer 	ClinVar,
chr20	26305095	26305095	T	G	intergenic	MIR663AHG,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr2	174371423	174371423	G	A	intergenic	CDCA7,SP3	unknown	SNV	-	-	-	0.0092	rs149324443	-	0.0115815	-	0.022	-	-	MALY-DE|1|241|0.00415	-	-	-,integument phenotype	Schizophrenia,-	ICGC,
chr15	31094366	31094366	C	T	intergenic	LOC100288637,HERC2P10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|2|301|0.00664	-	-	-,-	-,-	ICGC,
chr5	143700377	143700377	A	G	intronic	KCTD16	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-	-	ICGC,
chr7	2781903	2781903	G	A	intronic	GNA12	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	-	ICGC,
chrX	22703354	22703354	-	ACACAC	ncRNA_intronic	PTCHD1-AS	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	-	ICGC,
chr5	137813716	137813716	C	T	intergenic	EGR1,ETF1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype,-	-,-	ICGC,
chr4	79798110	79798110	A	G	intronic	BMP2K	unknown	SNV	-	-	-	0.1729	rs12649863	-	0.225439	-	0.217	-	-	LAML-KR|1|205|0.00488	-	-	-	High myopia, increased risk, association with	ICGC,
chr4	145397634	145397634	A	T	intergenic	GYPA,HHIP-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17280953	-	ESAD-UK|1|301|0.00332	-	-	-,-	MNS antigen, absence|M blood type variant|Haemolytic disease of the newborn|Blood group variation|Blood group Erik variant,-	COSMIC,ICGC,
chr7	71967127	71967127	G	A	intergenic	CALN1,TYW1B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr20	61542525	61542525	T	C	exonic	DIDO1	nonsynonymous	SNV	0.005	0.004	-	-	-	-	-	-	-	COSM3548823	SKCM|1|368|0.00272	SKCM-US|1|335|0.00299	-	-	mortality/aging	-	COSMIC,COSMIC,COSMIC,COSMIC,TCGA,ICGC,
chr13	84594465	84594465	A	C	intergenic	SLITRK1,LINC00333	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	Trichotillomania|Tourette syndrome|Obsessive-compulsive disorder |Attention deficit hyperactivity disorder ,-	ICGC,
chr7	39258323	39258323	G	T	intronic	POU6F2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	normal phenotype	Wilms tumour 	ICGC,
chr3	149218444	149218444	C	T	intronic	TM4SF4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr12	124181637	124181637	G	A	exonic	TCTN2	nonsynonymous	SNV	0.01	0.981	8.125e-06	-	-	-	-	-	-	-	-	GACA-JP|1|585|0.00171	-	-	vision/eye phenotype	Joubert syndrome|Meckel Gruber syndrome	ICGC,
chr12	40089424	40089424	C	T	intronic	C12orf40	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr15	94046344	94046344	C	T	intergenic	RGMA,LOC101927153	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Autism,-	ICGC,
chr1	229170779	229170779	C	T	intergenic	RHOU,RAB4A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr5	29007257	29007257	A	C	intergenic	LSP1P3,LOC101929645	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27106707	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr3	181217058	181217058	C	T	ncRNA_intronic	SOX2-OT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr2	219979906	219979906	-	GAA	intronic	NHEJ1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	hematopoietic system phenotype	Immunodeficiency with microcephaly|Immunodeficiency with radiosensitivity|Nijmegen breakage syndrome-like phenotype|Polymicrogyria|Potential protein deficiency	ICGC,
chr9	6352729	6352729	C	T	intergenic	TPD52L3,UHRF2	unknown	SNV	-	-	-	3.229e-05	rs773584343	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr8	112291297	112291297	C	A	intergenic	KCNV1,CSMD3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	behavior/neurological phenotype,-	-,Schizophrenia  |Colorectal cancer 	ICGC,
chr7	145553766	145553766	C	T	intergenic	TPK1,CNTNAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	Thiamine pyrophosphokinase deficiency|Leigh-like disease|Colorectal cancer, increased risk, association with |Autism,Gilles de la Tourette syndrome|Intellectual disability  |Learning disability & speech problems|Mental retardation |Mental retardation, Pitt-Hopkins-like|Multiple congenital anomalies  |Seizures, neonatal |Speech delay  |Stuttering |Epileptic encephalopathy  |Epilepsy and schizophrenia|Autism|Autism spectrum disorder |Autism spectrum disorder, modifier of|Childhood apraxia of speech|Cortical dysplasia-focal epilepsy syndrome|Developmental and/or speech and/or behavioural problems|Developmental delay  |Developmental delay & dysmorphic features|Dyslexia 	ICGC,
chr9	83606111	83606111	T	-	intergenic	LOC101927477,TLE1	unknown	deletion	-	-	-	3.311e-05	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332,BRCA-EU|1|569|0.00176	-	-	-,-	-,-	ICGC,
chr2	8178710	8178710	G	A	ncRNA_intronic	LINC00299	unknown	SNV	-	-	0.0004	-	rs552771633	0.0004	0.000599042	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Developmental delay  	ICGC,
chr8	119637588	119637588	A	G	ncRNA_intronic	SAMD12-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19453530	-	-	-	-	-	-	COSMIC,
chr1	38241854	38241854	G	A	intergenic	EPHA10,MANEAL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr14	40949677	40949677	G	A	intergenic	FBXO33,LOC644919	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	-,-	-,-	ICGC,
chr20	393995	393995	C	T	intronic	RBCK1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	cellular phenotype	Polyglucosan body myopathy|Muscular weakness & cardiomyopathy|Immunodeficiency, autoinflammation & amylopectinosis	ICGC,
chrX	141993205	141993205	T	C	intergenic	MAGEC2,SPANXN4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2346346	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr13	66435505	66435505	C	T	intergenic	NONE,PCDH9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	90191436	90191436	T	A	intronic	GPR98	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging	Usher syndrome 3|Usher syndrome 2|Usher syndrome 1|Usher syndrome|Retinitis pigmentosa|Hearing loss, progressive  |Febrile and afebrile seizures|Deafness, non-syndromic|Deafness  |Autism	ICGC,
chr5	63274707	63274707	G	A	intergenic	HTR1A,RNF180	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	mortality/aging,-	Tourette syndrome |Reduced expression|Personality disorders, association with.|Menstrual cycle-dependent fever|Major depression and suicide, association with|Major depression|Impulsive behaviour, association with|Epileptic seizures |Comorbid depression and generalized anxiety, association with|Attenuated agonist-mediated receptor down-regulation and desensitization,-	ICGC,
chr21	21815550	21815550	G	A	intergenic	LOC101927797,LINC00320	unknown	SNV	-	-	-	-	rs867597305	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr13	68518779	68518779	T	C	intergenic	PCDH9,LINC00550	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr6	108966736	108966736	C	T	intronic	FOXO3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	-	ICGC,
chr18	73685276	73685276	G	A	intergenic	SMIM21,LOC339298	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr3	35100024	35100024	T	G	ncRNA_intronic	LOC101928135	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr8	5887590	5887590	T	C	intergenic	CSMD1,LOC100287015	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6700644	-	LIRI-JP|1|258|0.00388	-	-	-,-	Schizophrenia, association with |Hyperinsulinism|Autism|Attention deficit hyperactivity disorder ,-	COSMIC,ICGC,
chr9	126352713	126352713	C	T	intronic	DENND1A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Polycystic ovary syndrome, increased risk	ICGC,
chr20	25084062	25084062	G	A	intergenic	VSX1,LOC284798	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	vision/eye phenotype,-	Posterior polymorphous dystrophy|Keratoconus, association with|Keratoconus|Inner retina abnormality|Craniofacial and anterior segment developmental abnormalities,-	ICGC,
chr13	69121227	69121227	C	T	intergenic	PCDH9,LINC00550	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr17	39578371	39578371	T	A	exonic	KRT37	stopgain	SNV	-	-	-	-	-	-	-	-	-	COSM5671112	-	-	-	-	-	Potential protein deficiency	COSMIC,
chr2	158249355	158249355	G	A	intergenic	ERMN,CYTIP	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,hematopoietic system phenotype	-,-	ICGC,
chr5	72993266	72993266	C	T	intronic	ARHGEF28	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27755747	-	NKTL-SG|1|50|0.02000	-	-	-	Amyotrophic lateral sclerosis  	COSMIC,ICGC,
chr3	81144548	81144548	A	T	intergenic	ROBO1,GBE1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24826526	-	GACA-CN|1|123|0.00813	-	-	mortality/aging,mortality/aging	Developmental dyslexia ,Potential protein deficiency|Polyglucosan body disease, relapsing-remitting form|Polyglucosan body disease, adult|Lethal multiple pterygium syndrome|Glycogen storage disease 4, non-lethal neuromuscular|Glycogen storage disease 4, neonatal|Glycogen storage disease 4|Autism spectrum disorder|Adult polyglucosan body disease	COSMIC,ICGC,
chr17	14747595	14747595	C	T	intergenic	HS3ST3B1,CDRT7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr6	115425963	115425963	C	T	intergenic	HS3ST5,FRK	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,homeostasis/metabolism phenotype	-,Potential protein deficiency	ICGC,
chr2	115025471	115025471	C	T	intergenic	LINC01191,DPP10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Autism spectrum disorder	ICGC,
chr4	67894453	67894453	A	G	intergenic	EPHA5-AS1,LOC101927237	unknown	SNV	-	-	-	0.2872	rs4241678	-	0.349441	-	0.275	-	-	LAML-KR|1|205|0.00488,SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr7	146259781	146259781	A	G	intronic	CNTNAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN4867274	-	MALY-DE|1|241|0.00415	-	-	integument phenotype	Gilles de la Tourette syndrome|Intellectual disability  |Learning disability & speech problems|Mental retardation |Mental retardation, Pitt-Hopkins-like|Multiple congenital anomalies  |Seizures, neonatal |Speech delay  |Stuttering |Epileptic encephalopathy  |Epilepsy and schizophrenia|Autism|Autism spectrum disorder |Autism spectrum disorder, modifier of|Childhood apraxia of speech|Cortical dysplasia-focal epilepsy syndrome|Developmental and/or speech and/or behavioural problems|Developmental delay  |Developmental delay & dysmorphic features|Dyslexia 	COSMIC,ICGC,
chr19	39411477	39411477	A	T	intronic	SARS2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6668600	-	LICA-FR|1|252|0.00397	-	-	-	Hyperuricemia, pulmonary hypertension, renal failure & alkalosis	COSMIC,ICGC,
chr3	196185400	196185400	G	T	intergenic	UBXN7,RNF168	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,RIDDLE syndrome|RNF168 deficiency	ICGC,
chr5	113807535	113807535	G	A	intronic	KCNN2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23064564	-	MALY-DE|1|241|0.00415	-	-	integument phenotype	-	COSMIC,ICGC,
chr13	53047670	53047670	C	T	intronic	CKAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr2	195658023	195658023	G	A	intergenic	LOC101927431,SLC39A10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr15	65843962	65843962	-	T	intronic	PTPLAD1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PRAD-UK|1|140|0.00714	-	-	-	-	ICGC,
chr4	179646414	179646414	C	A	intergenic	LINC01098,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr3	172424174	172424174	T	G	intronic	NCEH1	unknown	SNV	-	-	-	0.0218	rs577735405	-	0.0257588	-	-	-	-	PBCA-US|1|186|0.00538	-	-	immune system phenotype	-	ICGC,
chr3	155011102	155011102	C	T	ncRNA_intronic	LOC100507537	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr15	80055729	80055729	C	T	intergenic	KIAA1024,MTHFS	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Autism	ICGC,
chr1	237291354	237291354	A	G	intronic	RYR2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21018046	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging	Long QT syndrome|Sudden cardiac death|Sudden cardiac death.|Sudden infant death syndrome|Sudden unexplained death  |Ventricular arrhythmia, in chronic heart failure, association with.|Ventricular tachycardia, polymorphic|Left ventricular noncompaction  |Left ventricular non-compaction.|Catecholaminergic polymorphic ventricular tachycardia.|Catecholaminergic polymorphic ventricular tachycardia|Cardiac arrhythmia|Arrhythmogenic right ventricular dysplasia/cardiomyopathy|Arrhythmogenic right ventricular dysplasia type 2|Arrhythmogenic right ventricular cardiomyopathy, association with|Arrhythmogenic right ventricular cardiomyopathy|Altered channel function	COSMIC,ICGC,
chr15	39235223	39235223	C	T	intergenic	C15orf53,C15orf54	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	78508064	78508064	C	T	intergenic	BHMT,JMY	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	growth/size phenotype,-	Squamous cell carcinoma of the head and neck, in tobacco consumers, association with.|Shorter telomere length, association with|Reduced risk of coronary artery disease, association|Omphalocele, association with|Altered gene expression,-	ICGC,
chr18	30841047	30841047	-	CTGT	intronic	CCDC178	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	-	ICGC,
chr13	82119755	82119755	G	A	intergenic	SPRY2,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Cleft lip ,-	ICGC,
chr2	46329300	46329300	C	A	intronic	PRKCE	unknown	SNV	-	-	-	0.2661	rs4953316	-	0.307308	-	0.377	-	-	ESAD-UK|1|301|0.00332,LAML-KR|2|205|0.00976	-	-	hematopoietic system phenotype	-	ICGC,
chr3	16742857	16742857	A	G	intergenic	DAZL,PLCL2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	reproductive system phenotype,hematopoietic system phenotype	Azoospermia, association with|Ovarian failure|Premature ovarian failure|Spermatogenic failure, association with ,-	ICGC,
chr3	162985468	162985468	C	T	ncRNA_intronic	LINC01192	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr6	132023092	132023092	G	A	intronic	ENPP3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	-	ICGC,
chr13	47085533	47085533	T	C	intergenic	LOC101929344,LRCH1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6230230	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,Knee osteoarthritis, association with	COSMIC,ICGC,
chr3	184034439	184034439	T	C	intronic	EIF4G1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27607352	-	SKCA-BR|2|100|0.02000	-	-	-	Parkinson disease 	COSMIC,ICGC,
chrX	113803436	113803436	G	A	intergenic	LOC101928437,HTR2C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	-,Tourette syndrome, association with|Tardive dyskinesia, association with|Suicide, association with|Reduced promoter activity|Premature ejaculation, association with|Increased promoter activity, association with|Hallucinations, in Alzheimer disease, association|Greater dopamine release|Alcohol use disorder comorbidity, association with|Anxiety, and Appetite disturbances in females, in Alzheimer disease, association with.|Bipolar affective disorder, association with|BMI, association with|Depression, in Alzheimer disease, association with.|Diabetes, association with	ICGC,
chr2	178505856	178505856	A	C	intronic	PDE11A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	Testicular germ cell tumour, association with|Prostate cancer, susceptibility to |Altered enzyme activity|Adrenocortical tumours|Adrenocortical hyperplasia|Adrenocortical adenoma.|Adrenocortical adenoma|ACTH-independent macronodular adrenocortical hyperplasia|ACTH-independent macronodular adrenal hyperplasia	ICGC,
chr8	110377568	110377568	T	C	intronic	PKHD1L1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Autism spectrum disorder|Potential protein deficiency	ICGC,
chr5	172041499	172041499	C	T	intergenic	SH3PXD2B,NEURL1B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Glaucoma, primary open angle|Glaucoma, primary congenital|Frank-Ter Haar syndrome|Axenfeld-Rieger anomaly,-	ICGC,
chr12	19669486	19669486	A	C	intronic	AEBP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	integument phenotype	-	ICGC,
chr4	77473768	77473768	C	T	intronic	SHROOM3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Heterotaxy |Leukemia, risk, association with 	ICGC,
chr14	82091411	82091411	C	T	intergenic	LOC101928559,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	5431177	5431177	T	C	intergenic	AJAP1,MIR4417	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr22	25386968	25386968	G	A	intergenic	TMEM211,KIAA1671	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN18843657	-	-	-	-	-,-	-,-	COSMIC,
chr12	128234069	128234069	G	A	intergenic	LOC101927637,FLJ37505	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8700200	-	OV-AU|1|93|0.01075	-	-	-,-	-,-	COSMIC,ICGC,
chr3	158834525	158834525	A	G	intronic	IQCJ,IQCJ-SCHIP1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17417552	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr2	103151704	103151704	G	A	intergenic	SLC9A4,SLC9A2	unknown	SNV	-	-	-	0.1473	rs72993760	-	0.135383	-	0.101	-	-	ESAD-UK|1|301|0.00332	-	-	immune system phenotype,reproductive system phenotype	Higher sST2 levels, association with,-	ICGC,
chr20	23264504	23264504	-	T	intergenic	LINC00656,NXT1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr6	93302277	93302277	A	C	intergenic	CASC6,EPHA7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,nervous system phenotype	-,Development delay and dysmorphic features|Leukemia, risk, association with 	ICGC,
chr9	131327012	131327012	G	A	intronic	SPTAN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	mortality/aging	West syndrome & cerebral hypomyelination|Intellectual disability, hypotonia, speech impairment & dysmorphic features|Intellectual disability, hypotonia & speech impairment|Intellectual disability  |Epilepsy, generalised, and pontocerebellar atrophy	ICGC,
chr2	201488787	201488787	G	A	intronic	AOX1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Schizophrenia|Reduced dimerization and catalytic efficiency|Reduced catalytic efficiency|Potential protein deficiency|Increased catalytic efficiency	ICGC,
chr14	101100373	101100373	G	A	intergenic	BEGAIN,LINC00523	unknown	SNV	-	-	-	3.228e-05	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr9	102351067	102351067	C	T	ncRNA_intronic	LOC101928438	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr12	103237509	103237509	T	A	exonic	PAH	nonsynonymous	SNV	0.001	0.146	4.064e-06	-	rs62517163	-	-	-	-	-	-	-	Phenylketonuria|not_provided	-	integument phenotype	Schizophrenia, association with  |Schizophrenia|Schizoaffective disorder|Phenylketonuria.|Phenylketonuria|Increased activity |Hyperphenylalaninaemia, mild|Hyperphenylalaninaemia	ClinVar,
chr15	71388508	71388508	T	C	intergenic	LRRC49,CT62	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27869698	-	PRAD-CA|1|308|0.00325	-	-	-,-	-,-	COSMIC,ICGC,
chr6	73929320	73929320	C	T	intergenic	KCNQ5,KHDC1L	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-,-	Schizophrenia,-	ICGC,
chr12	108524916	108524916	C	T	intronic	WSCD2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr3	179708027	179708027	C	T	intronic	PEX5L	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	-	ICGC,
chr1	231469306	231469306	A	C	UTR3	EXOC8	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1435413	-	LIRI-JP|1|258|0.00388	-	-	-	Joubert syndrome	COSMIC,COSMIC,ICGC,
chr1	228503715	228503715	G	A	exonic	OBSCN	unknown	SNV	0.019	1.0	4.817e-06	6.468e-05	-	-	-	-	-	COSM4709076	-	-	-	-	muscle phenotype	Schizophrenia|Potential protein deficiency|Glioblastoma|Cardiomyopathy, hypertrophic	COSMIC,COSMIC,COSMIC,
chr20	7426166	7426166	G	A	intergenic	MIR8062,HAO1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,-	-,-	ICGC,
chr17	54934898	54934898	C	T	intronic	DGKE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	Haemolytic uraemic syndrome, atypical|Glomerular microangiopathy	ICGC,
chr11	96891311	96891311	G	A	intergenic	JRKL-AS1,MIR7976	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr1	142540223	142540223	G	A	intergenic	NONE,ANKRD20A12P	unknown	SNV	-	-	-	-	rs199568233	-	-	-	0.007	-	-	LUSC-KR|3|170|0.01765	-	-	-,-	-,-	ICGC,
chr12	130847327	130847327	A	G	exonic	PIWIL1	nonsynonymous	SNV	1.0	0.0	2.843e-05	6.454e-05	rs374602004	2.472e-05	-	0.0002	-	COSM3733017	-	-	-	-	reproductive system phenotype	-	COSMIC,
chr3	118312769	118312769	G	A	intergenic	LINC00901,IGSF11	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr19	33132912	33132912	C	A	intronic	ANKRD27	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-JP|1|585|0.00171	-	-	-	-	ICGC,
chr7	73938694	73938694	G	A	intronic	GTF2IRD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	integument phenotype	Autism |Williams-Beuren syndrome features	ICGC,
chr3	97055185	97055185	T	C	intronic	EPHA6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	behavior/neurological phenotype	Alzheimer disease  	ICGC,
chr21	31065414	31065414	C	T	intronic	GRIK1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype	Lung cancer, susceptibility to, association with|Juvenile absence epilepsy, association with 	ICGC,
chr3	79563431	79563431	T	A	intronic	ROBO1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	mortality/aging	Developmental dyslexia 	ICGC,
chr10	13514772	13514772	A	G	intronic	BEND7	unknown	SNV	-	-	-	0	-	-	-	-	-	COSN22562853	-	BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr21	34162054	34162054	C	G	ncRNA_intronic	C21orf49	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr18	19487885	19487885	G	A	intergenic	MIB1,GATA6-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Cardiomyopathy, left ventricular noncompaction|Intellectual disability  ,-	ICGC,
chr21	14907792	14907792	T	G	intergenic	MIR3156-3,LOC102724188	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26070841	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr7	42303489	42303489	A	G	intergenic	GLI3,LINC01448	unknown	SNV	-	-	-	0.0001	rs565078903	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	integument phenotype,-	Postaxial polydactyly A/B|Postaxial polydactyly B|Preaxial polydactyly|Preaxial polydactyly IV|Preaxial polydactyly IV.|Schizophrenia|Sub-Greig cephalopolysyndactyly syndrome|Sub-Pallister-Hall syndrome|Talipes equinovarus, congential idiopathic, association with |Tooth agenesis, association with|Postaxial polydactyly A |Pallister-Hall syndrome with genital abnormalities|Acrocallosal syndrome|Broad thumbs, postaxial polydactyly & variable syndactyly of hands/feet|Digital anomalies|Greig cephalopolysyndactyly syndrome|Greig cephalopolysyndactyly syndrome & cerebral cavernous malformations|Greig cephalopolysyndactyly syndrome with MODY2|Hypodontia, non-syndromic, association with.|Metopic craniosynostosis|Oral-facial-digital syndrome|Pallister-Hall syndrome,-	ICGC,
chr12	120139847	120139847	C	T	intronic	CIT	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5932476	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging	-	COSMIC,ICGC,
chr4	78200466	78200466	C	G	intergenic	CCNG2,CXCL13	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,hematopoietic system phenotype	-,-	ICGC,
chr18	38477172	38477172	C	T	intergenic	LOC101927900,KC6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr20	44325059	44325059	G	A	intronic	WFDC10B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr1	94235318	94235318	T	A	intronic	BCAR3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	vision/eye phenotype	-	ICGC,
chr13	86948178	86948178	T	A	intergenic	SLITRK6,MIR4500HG	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8424079	-	OV-AU|1|93|0.01075	-	-	behavior/neurological phenotype,-	High myopia and sensorineural deafness,-	COSMIC,ICGC,
chr1	160597123	160597123	C	T	intronic	SLAMF1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7466102	-	MALY-DE|1|241|0.00415	-	-	hematopoietic system phenotype	-	COSMIC,ICGC,
chr4	85193381	85193381	A	C	intergenic	AGPAT9,NKX6-1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,-	ICGC,
chr2	228834807	228834807	G	A	intergenic	DAW1,SPHKAP	unknown	SNV	-	-	-	0.0001	rs566812554	-	-	-	-	-	-	UTCA-FR|1|20|0.05000	-	-	-,-	-,-	ICGC,
chr12	34837430	34837430	C	T	intergenic	ALG10,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr8	110255194	110255194	-	G	UTR3	NUDCD1	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN18733403	-	-	-	-	-	-	COSMIC,
chr11	71285345	71285345	-	CC	intergenic	KRTAP5-10,KRTAP5-11	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr10	46159025	46159025	A	G	exonic	ZFAND4	nonsynonymous	SNV	0.0	0.879	-	-	-	-	-	-	-	COSM4014281	STAD|1|395|0.00253,STES|1|395|0.00253	STAD-US|1|289|0.00346	-	-	-	-	COSMIC,COSMIC,TCGA,ICGC,
chr7	88480352	88480352	A	T	intronic	ZNF804B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	-	ICGC,
chr4	6566926	6566926	C	T	intergenic	PPP2R2C,MAN2B2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	Intellectual disability,-	ICGC,
chr1	156700455	156700455	C	T	intronic	RRNAD1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7178906	-	PACA-AU|1|391|0.00256	-	-	-	-	COSMIC,ICGC,
chrX	118724775	118724775	G	A	exonic	NKRF	nonsynonymous	SNV	0.062	0.502	-	-	-	-	-	-	-	COSM6726563	-	-	-	-	no phenotypic analysis	-	COSMIC,COSMIC,
chr1	149961896	149961896	C	T	intronic	OTUD7B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1405629	-	LIRI-JP|1|258|0.00388	-	-	behavior/neurological phenotype	-	COSMIC,ICGC,
chr10	25586124	25586124	C	T	intronic	GPR158	unknown	SNV	-	-	-	0.1978	rs73608266	-	0.246605	-	0.181	-	-	LAML-KR|1|205|0.00488	-	-	-	-	ICGC,
chr12	84263081	84263081	C	A	intergenic	TMTC2,SLC6A15	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9737386	-	RECA-EU|1|422|0.00237	-	-	-,reproductive system phenotype	-,Increased maximal 3H proline uptake	COSMIC,ICGC,
chr17	75933764	75933764	A	G	intergenic	FLJ45079,TNRC6C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-UK|1|141|0.00709	-	-	-,-	-,Schizophrenia	ICGC,
chr12	130180608	130180608	C	A	intronic	TMEM132D	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	Panic disorder  	ICGC,
chr2	164494176	164494176	-	T	intronic	FIGN	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	integument phenotype	-	ICGC,
chr2	14017356	14017356	C	T	intergenic	LOC100506474,LINC00276	unknown	SNV	-	-	-	0.0001	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr18	38874237	38874237	G	A	intergenic	LOC101927900,KC6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	165259862	165259862	C	T	intronic	LMX1A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	-	ICGC,
chr1	66281672	66281672	A	G	intronic	PDE4B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Psychiatric disorder |Schizophrenia	ICGC,
chr1	95808770	95808770	A	G	intergenic	RWDD3,FLJ31662	unknown	SNV	-	-	-	3.229e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	12623837	12623837	C	T	intergenic	HS3ST1,RAB28	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	-,Breast cancer risk, association with |Cone-rod dystrophy, autosomal recessive	ICGC,
chrX	124984198	124984198	G	T	intergenic	LOC100129520,LOC101928495	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	-,-	-,-	ICGC,
chr4	168056825	168056825	A	G	intronic	SPOCK3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-	-	ICGC,
chr14	45982838	45982838	G	A	intergenic	MIS18BP1,LINC00871	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|2|100|0.02000,MELA-AU|2|183|0.01093	-	-	-,-	-,-	ICGC,
chr16	20759890	20759890	A	G	intergenic	THUMPD1,ACSM3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,normal phenotype	-,Hypertension, association with|Increased expression|Potential protein deficiency|Reduced promoter activity	ICGC,
chr14	70894844	70894844	G	A	intergenic	SYNJ2BP-COX16,ADAM21	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,normal phenotype	-,-	ICGC,
chr1	195174913	195174913	C	A	intergenic	CDC73,KCNT2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	integument phenotype,-	Potential protein deficiency|Parathyroid carcinoma/adenoma|Parathyroid carcinoma.|Parathyroid carcinoma|Parathyroid cancer|Parathyroid adenoma.|Parathyroid adenoma |Hyperparathyroidism, primary.|Hyperparathyroidism, primary|Hyperparathyroidism, isolated|Hyperparathyroidism-jaw tumour syndrome.|Hyperparathyroidism-jaw tumour syndrome,-	ICGC,
chr8	49916590	49916590	G	A	intergenic	SNAI2,C8orf22	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26167387	-	PRAD-UK|1|140|0.00714	-	-	integument phenotype,-	Neural tube defect|Piebaldism|Tetralogy of Fallot|Waardenburg syndrome,-	COSMIC,ICGC,
chr16	75119723	75119723	T	A	intronic	ZNRF1	unknown	SNV	-	-	-	0.0004	rs376723560	-	-	-	-	COSN24503580	-	GACA-CN|1|123|0.00813	-	-	-	Glaucoma, primary congenital	COSMIC,ICGC,
chr11	55973014	55973014	G	A	intergenic	OR5J2,OR5T2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr20	58862975	58862975	G	A	ncRNA_intronic	MIR646HG	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr8	106964326	106964326	A	T	intergenic	ZFPM2,OXR1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,mortality/aging	Atrial septal defect & gonadal dysgenesis|Diaphragmatic hernia, congenital|Double outlet right ventricle |Gonadal dysgenesis |Reduced activity|Tetralogy of Fallot ,-	ICGC,
chr16	52618347	52618347	A	C	ncRNA_intronic	CASC16	unknown	SNV	-	-	-	0.1868	rs66914644	-	0.201677	-	0.181	-	-	LAML-KR|1|205|0.00488	-	-	-	-	ICGC,
chrX	70448274	70448274	G	A	ncRNA_intronic	BCYRN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr4	33923598	33923598	G	A	intergenic	NONE,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	ICGC,
chr4	101382576	101382576	G	A	intronic	EMCN	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr12	127493123	127493123	G	T	ncRNA_intronic	LOC101927592	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21250506	-	BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr16	67981292	67981292	C	T	exonic	SLC12A4	nonsynonymous	SNV	0.251	0.479	1.242e-05	-	rs755501835	1.755e-05	-	-	-	COSM6779381	ESCA|1|185|0.00541	-	-	-	-	-	COSMIC,COSMIC,COSMIC,COSMIC,TCGA,
chr6	134693275	134693275	C	T	intergenic	SGK1,LINC01010	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	growth/size phenotype,-	Reduced expression,-	ICGC,
chr14	30648064	30648064	T	G	intergenic	PRKD1,G2E3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,mortality/aging	Autism spectrum disorder|Mental retardation and microcephaly|Obesity ,-	ICGC,
chr22	49689020	49689020	G	A	intergenic	LINC01310,NONE	unknown	SNV	-	-	-	0.0003	-	-	-	-	-	-	-	BOCA-FR|1|98|0.01020	-	-	-,-	-,-	ICGC,
chr3	148294726	148294726	C	T	intergenic	LOC440982,AGTR1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Hypertrophic cardiomyopathy, association with|Increased left ventricular mass, association with|Myocardial infarction, acute, association with|Potential protein deficiency|Preeclampsia, association with|Reduced function|Renal tubular dysgenesis|Right coronary artery in STEM1, association with|Severe chronic periodontitis, association with|Hypertension, association with.|Hypertension, association with|Friedreich ataxia, modifier of|Acromegaly, association with|Atrial fibrillation, association with|Benign prostatic hyperplasia, association with|Blood pressure variation in response to potassium, association with|Body mass index, association with|Breast cancer, reduced risk|Carotid intima-media thickness, association with|Chronic kidney disease, association with|Diastolic heart failure, increased risk, association with	ICGC,
chr12	3227719	3227719	T	G	intronic	TSPAN9	unknown	SNV	-	-	-	0.7040	rs6489440	-	0.685503	-	0.623	COSN20385801	-	COCA-CN|1|321|0.00312,ESAD-UK|1|301|0.00332	-	-	-	-	COSMIC,ICGC,
chr8	83629193	83629193	G	A	intergenic	SNX16,LINC01419	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr6	71397231	71397231	C	G	intronic	SMAP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PEME-CA|1|112|0.00893	-	-	-	-	ICGC,
chr21	41895027	41895027	C	A	intronic	DSCAM	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	mortality/aging	Bipolar disorder, association with 	ICGC,
chr10	37411903	37411903	T	C	intergenic	LINC01452,ANKRD30A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BOCA-UK|1|130|0.00769	-	-	-,-	-,-	ICGC,
chr1	108097480	108097480	T	C	intergenic	NTNG1,VAV3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,hematopoietic system phenotype	Rett syndrome|Autism,Autism|Schizophrenia, reduced risk, association with 	ICGC,
chrX	86185456	86185456	C	T	intergenic	DACH2,KLHL4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	normal phenotype,-	-,-	ICGC,
chr3	20693709	20693709	G	A	intergenic	LOC101927829,VENTXP7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,-	-,-	ICGC,
chr13	23469880	23469880	G	T	intergenic	LINC00540,BASP1P1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr17	33531111	33531111	C	T	intergenic	SLC35G3,SLFN5	unknown	SNV	-	-	-	3.228e-05	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,Altered expression|Autism	ICGC,
chr3	156757608	156757608	T	C	intronic	LEKR1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr4	102543044	102543044	T	A	intergenic	FLJ20021,BANK1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,hematopoietic system phenotype	-,Systemic sclerosis, susceptibility to, association with|Systemic lupus erythematosus, protection against, association|Rheumatoid arthritis|Psoriasis, early disease onset, association with.|Diffuse systemic sclerosis, susceptibility to, association with	ICGC,
chr1	199919126	199919126	C	A	intergenic	LINC01222,NR5A2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26047144	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,-	COSMIC,ICGC,
chr12	93517573	93517573	C	T	ncRNA_intronic	LOC643339	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr13	85489511	85489511	C	T	intergenic	LINC00333,LINC00351	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16537564	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	COSMIC,ICGC,
chr15	74050558	74050558	A	T	intergenic	C15orf59,LOC101929221	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	-,-	ICGC,
chr8	131543882	131543882	C	A	intergenic	ASAP1,ADCY8	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8066143	-	PACA-AU|1|391|0.00256	-	-	-,integument phenotype	Schizophrenia,Myocardial infarction  	COSMIC,ICGC,
chr1	205033993	205033993	G	A	intronic	CNTN2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	Cortical myoclonic tremor & epilepsy	ICGC,
chr22	23247599	23247599	A	T	intergenic	IGLL5,RTDR1	unknown	SNV	-	-	-	-	rs544651495	-	0.000599042	-	-	COSN19308483	-	CLLE-ES|1|510|0.00196	-	-	-,-	-,-	COSMIC,ICGC,
chr14	73506725	73506725	A	G	intergenic	ZFYVE1,RBM25	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16856112	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	COSMIC,ICGC,
chr1	186983154	186983154	C	T	intergenic	PLA2G4A,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7467085	-	MALY-DE|1|241|0.00415	-	-	mortality/aging,-	Asthma, association with|Cryptogenic multifocal ulcerating stenosing enteritis|Increased enzyme activity|Prostanoid biosynthesis deficiency,-	COSMIC,ICGC,
chr6	133239829	133239829	G	A	intergenic	RPS12,LINC00326	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr16	26528518	26528518	C	T	intergenic	HS3ST4,C16orf82	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr14	49551388	49551388	C	T	intergenic	LINC00648,RPS29	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr18	36224183	36224183	C	T	intergenic	MIR4318,LINC00669	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr18	45050968	45050968	A	G	intergenic	SKOR2,SMAD2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	mortality/aging,integument phenotype	-,Congenital heart defects |Congenital heart disease 	ICGC,
chr7	36908961	36908961	C	A	intronic	ELMO1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	reproductive system phenotype	-	ICGC,
chr22	39716651	39716651	A	C	upstream	RPL3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27990040	-	PRAD-CA|1|308|0.00325	-	-	-	-	COSMIC,ICGC,
chr10	42618067	42618067	A	T	intergenic	NONE,LOC441666	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19755729	-	COCA-CN|1|321|0.00312,GACA-CN|1|123|0.00813	-	-	-,-	-,-	COSMIC,COSMIC,ICGC,
chr2	36825410	36825410	T	A	upstream	FEZ2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21462698	-	BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr7	7658869	7658869	-	GGGGA	intergenic	MIOS,RPA3	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|2|67|0.02985	-	-	-,-	Schizophrenia  ,-	ICGC,
chr16	80706249	80706249	-	CAGAGAGA	intronic	CDYL2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	-	ICGC,
chr12	13677291	13677291	G	A	intergenic	C12orf36,GRIN2B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Mental retardation, behavioural anomalies & abnormal EEG|Potential protein deficiency|Schizophrenia, association with|Schizophrenia, association with.|West syndrome|Mental retardation with behavioural anomalies|Intellectual disability  |Huntington disease, earlier onset in females, association with|Focal epilepsy & intellectual disability|Autism spectrum disorder|Autism|Alzheimer disease, increased risk, association with	ICGC,
chr3	181502946	181502946	A	G	intergenic	SOX2-OT,LINC01206	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	ICGC,
chr16	86257255	86257255	G	T	intergenic	LINC01082,LINC01081	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr15	88053654	88053654	T	C	intergenic	AGBL1,LINC00052	unknown	SNV	-	-	-	0.0378	rs199504687	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	Fuchs corneal dystrophy, late-onset ,-	ICGC,
chr2	22982129	22982129	C	T	intergenic	LOC102723362,KLHL29	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1830252	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr1	42438946	42438946	C	T	intergenic	HIVEP3,NONE	unknown	SNV	-	-	-	0.0005	rs143690229	-	0.000399361	-	-	-	-	MALY-DE|1|241|0.00415	-	-	hematopoietic system phenotype,-	Schizophrenia,-	ICGC,
chr13	34940176	34940176	A	G	intergenic	RFC3,LINC00457	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr13	72353242	72353242	-	ACATATATAC	intronic	DACH1	unknown	insertion	-	-	-	0.0210	rs200381946	-	0.165935	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Renal hypodysplasia	ICGC,
chr1	170309227	170309227	G	A	intergenic	LINC01142,GORAB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Gerodermia osteodysplasticum	ICGC,
chr19	47774989	47774989	-	C	UTR3	CCDC9	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN20093629	-	-	-	-	-	-	COSMIC,
chr5	164267868	164267868	G	T	intergenic	LOC102546299,NONE	unknown	SNV	-	-	-	0.2335	rs6877051	-	0.20008	-	0.058	COSN8382589	-	ESAD-UK|2|301|0.00664,MALY-DE|1|241|0.00415	-	-	-,-	-,-	COSMIC,ICGC,
chrX	1438453	1438453	C	T	intergenic	CSF2RA,IL3RA	unknown	SNV	-	-	-	0.2565	rs113767305	-	0.223442	-	0.145	-	-	LAML-KR|1|205|0.00488	-	-	-,hematopoietic system phenotype	Pulmonary alveolar proteinosis,-	ICGC,
chr1	111176557	111176557	C	T	intergenic	KCNA2,KCNA3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,growth/size phenotype	-,Decreased olfactory function|Decreased promoter activity|Low insulin sensitivity, association with	ICGC,
chr6	25387264	25387264	G	A	intronic	LRRC16A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	-	ICGC,
chr8	77384073	77384073	A	G	ncRNA_intronic	LINC01111	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20562983	-	COCA-CN|1|321|0.00312	-	-	-	-	COSMIC,ICGC,
chr5	3230399	3230399	T	C	intergenic	LINC01377,LINC01019	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	ICGC,
chr13	79457158	79457158	T	C	intergenic	LINC00331,RBM26	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25721730	-	EOPC-DE|1|202|0.00495	-	-	-,-	-,-	COSMIC,ICGC,
chr1	59160779	59160779	G	T	intronic	MYSM1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	integument phenotype	Anaemia, transfusion-dependent, thrombocytopaenia, and low NK- and B- cell counts	ICGC,
chr2	212258734	212258734	A	C	intronic	ERBB4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype	Schizophrenia |Oligohydramnios|Intellectual disability, hyperactivity & speech developmental delay|Increased promoter activity|Hepatocellular carcinoma, increased risk, association with|Epileptic encephalopathy, early infantile 3|Breast and colorectal cancer, association with|Bipolar disorder, association with |Bipolar disorder |Autism spectrum disorder  |Amyotrophic lateral sclerosis type 19	ICGC,
chr7	28889645	28889645	T	A	intergenic	CREB5,TRIL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,-	-,Potential protein deficiency	ICGC,
chr6	55348331	55348331	G	A	intronic	HMGCLL1	unknown	SNV	-	-	-	0.1352	rs12196680	-	0.115615	-	0.065	-	-	LAML-KR|1|205|0.00488	-	-	-	-	ICGC,
chr3	97255740	97255740	A	C	intronic	EPHA6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	behavior/neurological phenotype	Alzheimer disease  	ICGC,
chr5	35454411	35454411	G	A	intergenic	PRLR,SPEF2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype,mortality/aging	Benign breast tumours, association with|Hyperprolactinaemia,-	ICGC,
chr8	94240531	94240531	G	T	intergenic	C8orf87,LINC00535	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN55272	-	-	-	-	-,-	-,-	COSMIC,
chr7	52549151	52549151	T	A	intergenic	COBL,POM121L12	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	nervous system phenotype,-	-,-	ICGC,
chr15	26893959	26893959	G	A	intronic	GABRB3	unknown	SNV	-	-	-	6.459e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Neurological deficits of Angelman syndrome|Mesial temporal lobe epilepsy with depression, association with|Increased promoter activity|Epilepsy, childhood absence, association with|Chronic insomnia |Autism, association with |Autism spectrum disorder|Anorectal malformation	ICGC,
chr3	123512954	123512954	G	A	intronic	MYLK	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Inflammatory lung disease, association with|Asthma, association with|Aortic dissections |Acute lung injury, in major trauma, association with	ICGC,
chr18	39670982	39670982	A	G	intergenic	PIK3C3,LINC00907	unknown	SNV	-	-	-	0.4996	rs535626	-	0.579473	-	0.609	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	Intellectual disability  |Bipolar disorder/schizophrenia association with|Anti-Ro & anti-Sm antibodies, in lupus, in African-Americans, association,-	ICGC,
chr10	9628225	9628225	A	T	intergenic	LOC101928272,LOC101928298	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22534957	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr2	148353854	148353854	A	G	intergenic	PABPC1P2,ACVR2A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,-	ICGC,
chr11	66167629	66167629	G	A	intergenic	SLC29A2,NPAS4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	Equilibrative nucleoside transporter deficiency|Reduced function,Intellectual disability & dysmorphic features|Reduced transcriptional activity	ICGC,
chrX	94809803	94809803	G	T	intergenic	FAM133A,LOC643486	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2370766	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr7	108560527	108560527	G	A	intergenic	C7orf66,EIF3IP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr19	56509200	56509200	G	A	intergenic	NLRP8,NLRP5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,other phenotype	-,-	ICGC,
chr1	65676921	65676927	GTAATAT	-	intronic	AK4	unknown	deletion	-	-	-	0.3433	rs147357021	-	0.426518	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr8	36478257	36478257	C	T	intergenic	UNC5D,KCNU1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,reproductive system phenotype	-,Schizophrenia  	ICGC,
chr2	31670374	31670374	T	C	intergenic	XDH,SRD5A2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	integument phenotype,reproductive system phenotype	XDH deficiency|Xanthinuria, type 1, with bilateral renal calculi.|Xanthinuria, type 1|Potential protein deficiency|Increased activity|Hypertension, association with|Hypertension |Decreased transcriptional activity|Decreased activity,Male pseudohermaphroditism|Post-traumatic stress disorder, increased risk in males|Prostate cancer|Prostate cancer, association with|Prostate cancer, increased risk|Prostate cancer, protection against, association|Reduced enzyme activity|Steroid-5 alpha-reductase deficiency|Steroid-5 alpha-reductase deficiency.|Increased enzyme activity|Hypospadias, mild |3alpha-diol-17G concentration, association with|46,XY disorder of sex development, association with|46,XY disorder of sex development.|Alcohol craving, in addicts, association with.|Androgen insensitivity syndrome, partial|Androgen insensitivity syndrome, partial.|Breast cancer, decreased risk|Hypospadias|Hypospadias, association with	ICGC,
chr13	89348607	89348607	A	C	intergenic	LINC00433,LINC00353	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr3	12180667	12180667	G	A	intronic	SYN2	unknown	SNV	-	-	-	-	rs527649146	-	0.000199681	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	Autism spectrum disorder|Epilepsy  	ICGC,
chr2	115517403	115517403	T	C	intronic	DPP10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	EOPC-DE|1|202|0.00495	-	-	-	Autism spectrum disorder	ICGC,
chr4	15917925	15917925	C	T	intergenic	CD38,FGFBP1	unknown	SNV	-	-	-	6.462e-05	rs554875809	-	0.000199681	-	-	-	-	PBCA-US|1|186|0.00538	-	-	immune system phenotype,-	Discoid rash in SLE, association with|Diabetes mellitus 2, association with|B-cell chronic lymphocytic leukaemia susceptibility, association with|Autism and asthma,Bone mineral density, association with  	ICGC,
chr3	29862699	29862699	T	A	intronic	RBMS3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6765167	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr1	70556932	70556932	A	G	intronic	LRRC7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	mortality/aging	-	ICGC,
chr15	50371610	50371610	G	A	intronic	ATP8B4	unknown	SNV	-	-	-	0.0396	rs73400832	-	0.0445288	-	0.101	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr12	126756232	126756232	C	T	intergenic	LOC101927464,LOC100128554	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr10	33430967	33430967	G	A	intergenic	ITGB1,NRP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,mortality/aging	-,-	ICGC,
chr5	31759848	31759848	C	T	intergenic	C5orf22,PDZD2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,behavior/neurological phenotype	-,Schizophrenia	ICGC,
chr15	54884748	54884748	T	A	intronic	UNC13C	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6275992	-	LIRI-JP|1|258|0.00388	-	-	behavior/neurological phenotype	Developmental delay  	COSMIC,ICGC,
chr10	111900579	111900579	G	A	intergenic	ADD3,MXI1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-UK|1|141|0.00709	-	-	hematopoietic system phenotype,mortality/aging	Cerebral palsy  ,-	ICGC,
chr1	144148788	144148788	A	C	splicing	NBPF20	splicing	SNV	-	-	-	-	-	-	-	-	-	COSM3676785	-	-	-	-	-	-	COSMIC,COSMIC,COSMIC,COSMIC,
chr12	103889469	103889469	C	T	intronic	C12orf42	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr13	27161276	27161276	C	T	intronic	WASF3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	hematopoietic system phenotype	Ganglioneuroblastoma 	ICGC,
chr4	5566916	5566921	CCCCAG	-	intronic	EVC2	unknown	deletion	-	-	-	-	-	-	-	-	-	COSN1298406	-	LINC-JP|1|394|0.00254	-	-	mortality/aging	Weyers acrofacial dysostosis|Meckel-Gruber syndrome|Ellis-van Creveld syndrome	COSMIC,ICGC,
chr2	31475992	31475992	C	G	intronic	EHD3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15277613	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	-	COSMIC,ICGC,
chr12	88892784	88892784	T	C	intronic	KITLG	unknown	SNV	-	-	-	-	rs554338347	-	0.000199681	-	-	COSN9481473	-	OV-AU|1|93|0.01075	-	-	integument phenotype	Progressive hyperpigmentation|Progressive hyper- and hypopigmentation|Cancer, susceptibility to	COSMIC,ICGC,
chr2	116277454	116277454	A	C	intronic	DPP10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-	Autism spectrum disorder	ICGC,
chr9	87599418	87599418	A	C	intronic	NTRK2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Anxiety-related traits, association with|Obesity, hyperphagia, and developmental delay	ICGC,
chrX	28320303	28320303	T	A	intergenic	DCAF8L1,MIR6134	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23100506	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	COSMIC,ICGC,
chr5	4802605	4802605	A	T	intergenic	LOC101929153,LINC01020	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15252744	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr2	5677180	5677180	C	T	intergenic	LINC01249,LINC01248	unknown	SNV	-	-	-	3.23e-05	rs756228016	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr8	107405626	107405626	A	T	intronic	OXR1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	-	ICGC,
chr3	49981086	49981086	T	-	intronic	RBM6	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-	-	ICGC,
chr3	142701756	142701756	C	T	intergenic	PAQR9,LOC100289361	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Schizophrenia,-	ICGC,
chr2	168571960	168571960	C	T	intergenic	XIRP2,B3GALT1	unknown	SNV	-	-	-	3.228e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Schizophrenia,-	ICGC,
chr17	42279514	42279514	-	T	intergenic	ATXN7L3,UBTF	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	OV-AU|1|93|0.01075	-	-	-,-	-,-	ICGC,
chr6	92406677	92406677	G	A	intergenic	CASC6,EPHA7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,nervous system phenotype	-,Development delay and dysmorphic features|Leukemia, risk, association with 	ICGC,
chr7	54082785	54082785	G	A	intergenic	LINC01446,HPVC1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|3|100|0.03000,MELA-AU|2|183|0.01093	-	-	-,-	-,-	ICGC,
chr19	27826553	27826553	A	T	intergenic	NONE,LINC00662	unknown	SNV	-	-	-	0	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr5	5211160	5211160	C	T	intronic	ADAMTS16	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Increased systolic blood pressure, association with	ICGC,
chr5	67227597	67227597	G	A	intergenic	CD180,LOC102467655	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2115542	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging,-	-,-	COSMIC,ICGC,
chr8	24055029	24055029	A	C	intergenic	STC1,ADAM28	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5813345	-	EOPC-DE|1|202|0.00495	-	-	reproductive system phenotype,-	-,-	COSMIC,ICGC,
chr12	55653597	55653597	C	T	intergenic	OR6C74,OR6C6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr6	106396158	106396158	C	T	intergenic	PREP,PRDM1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16450677	-	LIRI-JP|1|258|0.00388	-	-	hematopoietic system phenotype,mortality/aging	-,Crohn's disease, increased risk, association with|Ulcerative colitis, reduced risk, association with  	COSMIC,ICGC,
chr22	26633181	26633181	A	G	intronic	SEZ6L	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2503729	-	-	-	-	behavior/neurological phenotype	-	COSMIC,
chr1	238675699	238675699	C	T	intergenic	LINC01139,CHRM3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,vision/eye phenotype	-,Autistic disorder|Bladder malformation|Diabetes, type 2, increased risk, association |Tetralogy of Fallot	ICGC,
chr7	130841083	130841083	G	A	intronic	MKLN1	unknown	SNV	-	-	-	6.507e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	-	ICGC,
chr2	213017989	213017989	C	T	intronic	ERBB4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Schizophrenia |Oligohydramnios|Intellectual disability, hyperactivity & speech developmental delay|Increased promoter activity|Hepatocellular carcinoma, increased risk, association with|Epileptic encephalopathy, early infantile 3|Breast and colorectal cancer, association with|Bipolar disorder, association with |Bipolar disorder |Autism spectrum disorder  |Amyotrophic lateral sclerosis type 19	ICGC,
chr14	26231072	26231072	G	A	intergenic	STXBP6,NOVA1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,-	ICGC,
chr12	2720248	2720248	CC	TT	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr13	29677052	29677052	C	T	intronic	MTUS2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr5	38764740	38764750	CTCTGTCCCCC	-	ncRNA_intronic	OSMR-AS1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	PAEN-AU|1|52|0.01923	-	-	-	-	ICGC,
chr3	14186124	14186124	A	C	downstream	TMEM43,XPC	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15108809	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	Potential protein deficiency|EDMD-related myopathy |Arrhythmogenic right ventricular dysplasia/cardiomyopathy |Arrhythmogenic right ventricular cardiomyopathy,Infertility, male, reduced risk, association with|Lung cancer|Lung cancer, association with|Lung cancer, susceptibility to|Nasopharyngeal carcinoma, association with|Oesophageal cancer, decreased risk, association with|Primary hepatocellular carcinoma in HBV infected patients, associ|Sporadic colorectal cancer, increased risk|Squamous cell carcinoma, increased risk, association|Xeroderma pigmentosum (C)|Hepatocellular carcinoma, association with|Gallbladder cancer, association with|Bladder cancer  |Bladder cancer / meta-analysis, association with|Bladder cancer, association with|Bladder cancer, increased risk|Cancer, association with.|Chromosomal aberrations, association with|Colorectal cancer, increased risk, association with|Decreased OPL risk|DNA damage in coke oven workers, association with|DNA repair rate, association with	COSMIC,ICGC,
chr8	92899918	92899918	G	A	intergenic	SLC26A7,RUNX1T1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	digestive/alimentary phenotype,integument phenotype	-,Intellectual disability  	ICGC,
chrY	7681083	7681083	T	C	intergenic	TTTY12,TTTY18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	ICGC,
chr19	45656350	45656350	G	T	exonic	NKPD1	synonymous	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr14	42076731	42076731	T	G	upstream	LRFN5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	Short stature|Developmental delay, seizures & learning problems 	ICGC,
chr4	43104608	43104608	C	T	intergenic	GRXCR1,KCTD8	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25791966	-	EOPC-DE|1|202|0.00495	-	-	behavior/neurological phenotype,-	Hearing impairment, nonsyndromic, autosomal recessive,-	COSMIC,ICGC,
chr9	91193422	91193422	G	A	intergenic	NXNL2,LOC286238	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	taste/olfaction phenotype,-	-,-	ICGC,
chr16	34552187	34552187	T	C	intergenic	UBE2MP1,LOC283914	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8232198	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	COSMIC,ICGC,
chr5	57612707	57612707	A	G	intergenic	LOC101928569,PLK2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5607876	-	LIRI-JP|1|258|0.00388	-	-	-,integument phenotype	-,-	COSMIC,ICGC,
chr5	82960711	82960711	C	T	intronic	HAPLN1	unknown	SNV	-	-	-	-	rs779887004	-	-	-	-	COSN4852257	-	MALY-DE|1|241|0.00415	-	-	mortality/aging	-	COSMIC,ICGC,
chr1	219043367	219043367	A	T	intergenic	TGFB2,LYPLAL1-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26925264	-	UTCA-FR|1|20|0.05000	-	-	mortality/aging,-	Breast cancer, progression, association with|Loeys-Dietz syndrome 4|Thoracic aortic aneurysms and dissections,-	COSMIC,COSMIC,ICGC,
chr14	45550135	45550135	C	T	intergenic	FAM179B,PRPF39	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,Autism	ICGC,
chr20	39482592	39482592	A	T	intergenic	MAFB,TOP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	mortality/aging,mortality/aging	Multicentric carpotarsal osteolysis|Intellectual and developmental disabilities|Cleft lip  ,Autism	ICGC,
chr4	161807479	161807479	G	A	intergenic	RAPGEF2,FSTL5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	-,Schizophrenia  |Rolandic epilepsy 	ICGC,
chr7	21639713	21639713	A	C	exonic	DNAH11	synonymous	SNV	-	-	-	-	-	-	-	-	-	-	HNSC|1|512|0.00195	-	-	-	hematopoietic system phenotype	Tetralogy of Fallot|Primary ciliary dyskinesia and situs inversus|Primary ciliary dyskinesia|Autism|Asthenozoospermia 	TCGA,
chr14	67135629	67135629	C	T	intronic	GPHN	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388,MELA-AU|1|183|0.00546	-	-	mortality/aging	Seizures |Schizophrenia|Molybdenum cofactor deficiency|Hyperekplexia|Epilepsy with cognitive impairment / autism spectrum disorder|Autism spectrum disorder & seizures|Autism spectrum disorder	ICGC,
chr2	112873668	112873668	T	C	exonic	TMEM87B	nonsynonymous	SNV	0.047	0.006	-	-	-	-	-	-	-	COSM5057990	-	-	-	-	-	Schizophrenia	COSMIC,
chr13	104248911	104248911	G	A	intergenic	MIR548AS,DAOA-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	132195045	132195045	G	C	intergenic	LINC01120,LOC401010	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	ICGC,
chr18	40804773	40804773	A	T	intergenic	RIT2,SYT4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,behavior/neurological phenotype	-,-	ICGC,
chr10	51030289	51030289	-	GT	intronic	PARG	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PRAD-UK|1|140|0.00714	-	-	mortality/aging	-	ICGC,
chr17	12606711	12606711	A	T	ncRNA_intronic	LOC101928418	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr10	9119698	9119698	C	A	intergenic	LINC00708,LOC101928272	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21182716	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr1	212926308	212926308	G	A	intronic	NSL1	unknown	SNV	-	-	-	3.262e-05	rs754512531	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	Potential protein deficiency	ICGC,
chr16	1335957	1335957	G	A	intergenic	TPSD1,UBE2I	unknown	SNV	-	-	-	0.0151	rs142974143	-	0.00938498	-	-	COSN6644192	-	EOPC-DE|1|202|0.00495	-	-	-,mortality/aging	-,Breast cancer, association with	COSMIC,ICGC,
chr11	14760523	14760523	T	C	intronic	PDE3B	unknown	SNV	-	-	-	3.23e-05	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	integument phenotype	Schizophrenia	ICGC,
chr8	43678804	43678804	A	T	intergenic	POTEA,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BOCA-UK|1|130|0.00769	-	-	-,-	-,-	ICGC,
chr15	23747216	23747216	G	A	intergenic	GOLGA8S,MIR4508	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chrX	95648389	95648389	C	T	intergenic	LOC643486,DIAPH2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,cardiovascular system phenotype	-,Premature ovarian failure	ICGC,
chr3	50295208	50295208	A	G	intronic	GNAI2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17447932	-	SKCA-BR|2|100|0.02000	-	-	mortality/aging	Altered transcriptional activity	COSMIC,ICGC,
chr9	11910484	11910484	G	T	intergenic	PTPRD-AS2,TYRP1	unknown	SNV	-	-	-	-	rs558928793	-	0.000199681	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,integument phenotype	-,Albinism, oculocutaneous  |Albinism, oculocutaneous 3|Melanesian blond hair	ICGC,
chr5	21548795	21548795	A	T	ncRNA_intronic	GUSBP1	unknown	SNV	-	-	-	0.4126	rs34757302	-	-	-	0.478	COSN14530329	-	PACA-AU|1|391|0.00256	-	-	-	-	COSMIC,ICGC,
chr11	500626	500626	G	A	exonic	RNH1	nonsynonymous	SNV	0.183	0.999	3.316e-05	-	rs149360262	1.692e-05	-	0.0002	-	COSM5838717	-	-	-	-	-	-	COSMIC,
chr19	48453255	48453255	T	C	upstream	SNAR-C3	unknown	SNV	-	-	-	0.0484	rs4002946	-	-	-	-	COSN17919739	-	SKCA-BR|1|100|0.01000	-	-	-	-	COSMIC,ICGC,
chr1	44603298	44603298	G	T	intergenic	KLF17,DMAP1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27977492	-	PRAD-CA|1|308|0.00325	-	-	-,mortality/aging	-,-	COSMIC,ICGC,
chr12	17388690	17388690	G	A	intergenic	SKP1P2,MIR3974	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr11	70151686	70151686	G	A	intronic	PPFIA1	unknown	SNV	-	-	-	0.4322	rs583347	-	0.421725	-	0.471	-	-	LAML-KR|1|205|0.00488	-	-	-	-	ICGC,
chr1	175429348	175429348	C	T	intronic	TNR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	nervous system phenotype	Schizophrenia, association with  |Intellectual disability  	ICGC,
chr6	10657860	10657860	-	TTAAATAA	intergenic	GCNT2,C6orf52	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	integument phenotype,-	Paediatric cataract |I blood group variation|Congenital cataract|Autism, non-complex,-	ICGC,
chr12	68617828	68617828	C	T	intronic	IL26	unknown	SNV	-	-	-	0.0920	rs12813085	-	0.166134	-	0.130	-	-	LAML-KR|2|205|0.00976	-	-	-	-	ICGC,
chr4	129669473	129669473	G	A	intergenic	PGRMC2,JADE1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	145111134	145111134	T	C	intergenic	GYPA,HHIP-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	MNS antigen, absence|M blood type variant|Haemolytic disease of the newborn|Blood group variation|Blood group Erik variant,-	ICGC,
chr19	22335097	22335097	C	T	intergenic	ZNF257,ZNF676	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN28155725	-	PRAD-CA|1|308|0.00325	-	-	-,-	-,-	COSMIC,ICGC,
chr10	109497331	109497331	A	G	intergenic	SORCS1,RNU6-53P	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21608417	-	BRCA-UK|1|141|0.00709,BRCA-EU|1|569|0.00176	-	-	other phenotype,-	Autism ,-	COSMIC,ICGC,
chr4	34497478	34497478	G	A	intergenic	NONE,ARAP2	unknown	SNV	-	-	-	0.1550	rs78833086	-	0.172524	-	0.174	COSN2025768	-	LAML-KR|3|205|0.01463,LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr20	18715152	18715152	T	G	intronic	DTD1	unknown	SNV	-	-	-	0.3062	rs7265487	-	0.255192	-	0.406	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr7	70968818	70968818	C	G	intronic	WBSCR17	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-	-	ICGC,
chr14	74498830	74498830	T	A	intronic	CCDC176	unknown	SNV	-	-	-	0.0005	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-	-	ICGC,
chr4	91388858	91388858	A	G	intronic	CCSER1	unknown	SNV	-	-	-	0.0040	rs184046716	-	0.00439297	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chrX	29357366	29357366	C	T	intronic	IL1RAPL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	nervous system phenotype	Mental retardation, X-linked|Mental retardation with dysmorphic features|Mental retardation and autism|Intellectual disability, X-linked with dysmorphism|Intellectual disability, X-linked|Intellectual disability, dysmorphic signs, deafness & behavioural problems|Intellectual disability & behavioural problems|Developmental delay, learning disability & microcephaly|Autism spectrum disorder  |Asperger syndrome	ICGC,
chr10	95166643	95166643	G	T	intronic	MYOF	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8532654	-	MALY-DE|1|241|0.00415	-	-	cardiovascular system phenotype	Schizophrenia|Autism	COSMIC,ICGC,
chr12	15789156	15789156	C	G	intronic	EPS8	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8539176	-	MALY-DE|1|241|0.00415	-	-	behavior/neurological phenotype	Deafness  	COSMIC,ICGC,
chr5	128871363	128871363	G	A	intronic	ADAMTS19	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr10	18991323	18991323	C	T	intergenic	ARL5B,MALRD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Altered expression,-	ICGC,
chr2	52358478	52358478	T	G	intergenic	NRXN1,ASB3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	Hypotonia|Hypotonia & encephalopathy|Increased white matter volume, association with|Intellectual disability  |Intellectual disability & attention deficit hyperactivity disorder|Intellectual disability & hearing loss|Intellectual disability & pervasive developmental disorder|Intellectual disability and autism|Intellectual disability, nonsyndromic |Intellectual disability, seizures, dysmorphisms & language delay|Growth retardation  |Epilepsy, myoclonic seizures & speech delay|Developmental disorder|Developmental disorder & attention deficit hyperactivity disorder|Developmental disorder, seizures & attention deficit hyperactivity disorder|Developmental/intellectual disability, hypotonia & dysmorphic features|Disorder of muscle, ligament & fascia|Encephalopathy  |Epilepsy  |Epilepsy with cognitive impairment / autism spectrum disorder|Epilepsy with focal seizures|Epilepsy, generalised |Intellectual disability, seizures, language delay & hypotonia|Language delay|Learning difficulties|Respiratory distress & sepsis|Respiratory distress syndrome|Schizophrenia |Schizophrenia, childhood onset |Schizophrenia, disorganised type|Seizures, generalized tonic-clonic & attention deficit hyperactivity disorder|Sensory integration disorder & attention deficit hyperactivity disorder|Speech delay & social communication difficulties|Tourette syndrome|Pervasive developmental disorder / hypotonia|Pervasive developmental disorder|Pervasive developmental delay / mental retardation, lack of coordination & hearing loss|Learning difficulties, ADHD & autism|Mental retardation|Mental retardation, autism, vertebral malformations|Mental retardation, Pitt-Hopkins-like|Microcephaly & mental retardation|Multiple congenital anomalies  |Multiple disabilities|Myoclonic epilepsy   |Neurodevelopmental disorder  |Vertebral anomalies|Developmental delay, speech delay & social communication difficulties|Attention deficit hyperactivity disorder |Autism spectrum disorder, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability & language delay|Autism spectrum disorder, intellectual disability, dysmorphisms, developmental delay & language delay|Autism spectrum disorder, intellectual disability, seizures & developmental delay|Autism spectrum disorder, intellectual disability, seizures, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability, seizures, dysmorphisms & language delay|Autism spectrum disorder, seizures, developmental delay & language delay|Autism, intellectual disability & attention deficit hyperactivity disorder|Autistic disorder|Autism spectrum disorder with developmental & speech delay|Autism spectrum disorder & seizures|Autism spectrum disorder & language delay|Autism |Autism & learning difficulties|Autism & mental retardation|Autism & seizures|Autism spectrum disorder|Autism spectrum disorder & attention deficit hyperactivity disorder|Autism spectrum disorder & developmental delay|Autism spectrum disorder & dysmorphic features|Autism spectrum disorder & intellectual disability|Behavioural problems|Congenital heart defect  |Craniofacial dysmorphism|Developmental delay & speech/motor delay|Developmental delay with early-onset epilepsy|Developmental delay, dysmorphic features & short stature|Developmental delay, epilepsy, autism|Developmental delay, language delay & hypotonia|Developmental delay, learning difficulties, ADHD|Developmental delay, microcephaly & behavioural problems|Developmental delay, pulmonic stenosis & autism spectrum disorder|Developmental delay, short stature and diaphragmatic hernia|Developmental delay, speech delay & microcephaly|Developmental delay & seizures|Developmental delay & seizure disorder|Cystic hygroma, hydrops & micrognathia|Cystic hygroma, shortened upper limbs & fetal demise|Developmental & speech delay|Developmental delay|Developmental delay / autism|Developmental delay & autism|Developmental delay & dysmorphic features|Developmental delay & epilepsy|Developmental delay & hypotonia|Developmental delay & multiple congenital anomalies,-	ICGC,
chr10	84726361	84726361	G	A	intronic	NRG3	unknown	SNV	-	-	-	0.1167	rs1923582	-	0.0611022	-	0.051	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Schizophrenia, association with |Increased ventrolateral PFC activation|Hirschsprung disease  	ICGC,
chr19	9626059	9626059	G	A	intergenic	ZNF560,ZNF426	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Schizophrenia	ICGC,
chr3	158788611	158788611	T	A	intronic	IQCJ,IQCJ-SCHIP1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21512940	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr8	85696202	85696202	G	A	intronic	RALYL	unknown	SNV	-	-	-	0.3461	rs2634045	-	0.303315	-	0.275	-	-	LAML-KR|1|205|0.00488	-	-	-	-	ICGC,
chr13	34159813	34159813	A	T	intronic	STARD13	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5190363	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Schizophrenia	COSMIC,ICGC,
chr8	60575946	60575946	T	G	intergenic	TOX,CA8	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9266256	-	RECA-EU|1|422|0.00237	-	-	hematopoietic system phenotype,behavior/neurological phenotype	Pulmonary tuberculosis, association  with,Ataxia, cerebellar hypoplasia|Cerebellar ataxia and quadrupedal locomotion|Cerebellar ataxia, mental retardation & dysequilibrium syndrome 3	COSMIC,ICGC,
chr5	7889640	7889640	C	T	intronic	MTRR	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23070392	-	MALY-DE|1|241|0.00415	-	-	growth/size phenotype	Increased serum methylmalonic acid levels, association with|Methionine synthase reductase deficiency|Pancreatic cancer, increased risk, association with|Spina bifida, increased risk in offspring, association|Temporomandibular disorder, association with|Homocystinuria.|Homocystinuria, cblE type|Altered activity|Colon cancer, sporadic, reduced risk|Coronary artery disease, association with|Coronary heart disease, increased risk, association with  |Homocystinuria	COSMIC,ICGC,
chr3	189726141	189726141	C	T	intronic	LEPREL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	High myopia  	ICGC,
chr12	65723008	65723008	G	A	intronic	MSRB3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	Deafness, non-syndromic, autosomal recessive	ICGC,
chr4	65878327	65878327	T	C	intergenic	LOC401134,EPHA5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25020351	-	LICA-FR|1|252|0.00397	-	-	-,nervous system phenotype	-,Mental retardation|Dravet syndrome  |Attention deficit hyperactivity disorder & learning disabilities|Alzheimer disease  	COSMIC,ICGC,
chr5	9322594	9322594	G	A	intronic	SEMA5A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Double outlet right ventricle	ICGC,
chr9	39117681	39117681	T	G	intronic	CNTNAP3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	-	ICGC,
chr18	71364726	71364726	C	T	intergenic	LOC100505817,FBXO15	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|3|183|0.01639	-	-	-,normal phenotype	-,-	ICGC,
chr16	20396954	20396954	G	A	intronic	PDILT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	reproductive system phenotype	-	ICGC,
chr18	44946435	44946435	G	A	intergenic	SKOR2,SMAD2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,integument phenotype	-,Congenital heart defects |Congenital heart disease 	ICGC,
chr1	200613608	200613608	G	A	exonic	DDX59	nonsynonymous	SNV	0.003	0.998	8.577e-06	-	rs753527075	8.337e-06	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-	Orofaciodigital syndrome	ICGC,
chr8	11052720	11052720	G	T	intronic	XKR6	unknown	SNV	1.0	-	7.549e-06	-	-	-	-	-	-	-	SARC|1|247|0.00405	-	-	-	-	Schizophrenia	TCGA,
chr14	36211696	36211696	C	T	exonic	RALGAPA1	nonsynonymous	SNV	0.34	0.056	-	-	-	-	-	-	-	-	LIHC|1|373|0.00268	-	-	-	-	Brain developmental delay	TCGA,
chr16	87871201	87871201	G	A	intronic	SLC7A5	unknown	SNV	-	-	-	0.0492	rs75646753	-	0.0211661	-	0.029	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Phenylketonuria modifier 	ICGC,
chr15	45424266	45424266	C	G	intronic	DUOX1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN214270	-	-	-	-	-	-	COSMIC,
chr6	50879594	50879594	C	T	intergenic	TFAP2B,PKHD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,mortality/aging	Patent ductus arteriosus|Nonsyndromic patent ductus arteriosus|Neonatal temperament, association with|Increased expression, association with|Female alcoholism, severe, association with|Endocardial cushion defect|Diabetes, type 2, asssociation with|Char syndrome|Cardiac defects,Renal cystic disease and hepatic fibrosis.|Protection against colorectal cancer|Polycystic kidney disease |Caroli disease	ICGC,
chr4	142162241	142162241	G	T	intergenic	ZNF330,LOC100507639	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr13	38460224	38460224	G	A	intergenic	TRPC4,LINC00571	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	cardiovascular system phenotype,-	Myocardial infarction, reduced risk, association with,-	ICGC,
chr4	31970961	31970961	A	T	intergenic	PCDH7,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7485783	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	COSMIC,ICGC,
chr10	126018617	126018617	A	T	intergenic	CHST15,OAT	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15455487	-	OV-AU|1|93|0.01075	-	-	hematopoietic system phenotype,mortality/aging	-,Gyrate atrophy	COSMIC,ICGC,
chr2	157615415	157615415	G	A	intergenic	GPD2,GALNT5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,normal phenotype	Intellectual disability  |Increased plasma FFA and glycerol levels|Diabetes mellitus, type 2,-	ICGC,
chr1	102742410	102742410	T	A	intergenic	OLFM3,COL11A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-,mortality/aging	-,Stickler syndrome, type 2|Stickler syndrome|Robin sequence |Osteoarthritis, early-onset|Marshall syndrome|Marshall / Stickler syndrome|Lumbar disc herniation, association with|Fibrochondrogenesis|Deafness  	ICGC,
chr13	58565637	58565637	A	G	intergenic	PCDH17,LOC101926897	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr9	126941375	126941375	C	G	intergenic	LHX2,NEK6	unknown	SNV	-	-	-	0.1888	rs9299296	-	0.214657	-	0.312	COSN14868311	-	-	-	-	integument phenotype,normal phenotype	-,-	COSMIC,
chrY	28499252	28499252	G	A	intergenic	TTTY3B,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr6	102339938	102339938	-	T	intronic	GRIK2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	behavior/neurological phenotype	Mental retardation, non-syndromic, autosomal recessive	ICGC,
chr8	28676688	28676688	C	T	intronic	INTS9	unknown	SNV	-	-	-	3.247e-05	-	-	-	-	-	COSN17910273	-	SKCA-BR|1|100|0.01000	-	-	-	-	COSMIC,ICGC,
chr20	17934762	17934762	C	A	splicing	SNX5	splicing	SNV	-	-	-	-	rs199532222	-	-	-	-	COSM443492	BRCA|2|982|0.00204	BRCA-US|1|955|0.00105	-	-	immune system phenotype	Autism spectrum disorder	COSMIC,TCGA,ICGC,
chr20	23977848	23977848	C	T	intergenic	GGTLC1,FLJ33581	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	180329168	180329168	A	C	intergenic	LINC01098,LINC00290	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr6	86871784	86871784	C	G	intergenic	SNHG5,HTR1E	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	-,-	-,-	ICGC,
chr3	53687410	53687410	G	A	intronic	CACNA1D	unknown	SNV	-	-	-	9.688e-05	rs759034665	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging	Primary aldosteronism|Potential protein deficiency|Deafness and brachycardia|Autism	ICGC,
chr14	63372661	63372661	C	T	intronic	KCNH5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	Epileptic encephalopathy 	ICGC,
chr2	70324099	70324099	G	C	intergenic	PCBP1,LOC100133985	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	ICGC,
chr7	40086846	40086846	A	C	intronic	CDK13	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr5	161464884	161464884	C	T	intergenic	GABRA1,GABRG2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5594531	-	MELA-AU|2|183|0.01093,LIRI-JP|1|258|0.00388	-	-	mortality/aging,mortality/aging	Myoclonic epilepsy, juvenile|Epileptic encephalopathy  |Epilepsy, idiopathic generalised  |Epilepsy, idiopathic  |Dravet syndrome   |Childhood absence epilepsy|Altered promoter activity,Seizures, generalized tonic-clonic|Myoclonic epilepsy of infancy |Generalized epilepsy with febrile seizures plus|Febrile seizures|Epilepsy, susceptibility to|Epilepsy, idiopathic generalised  |Epilepsy, childhood absence with febrile seizures|Dravet syndrome	COSMIC,ICGC,
chr18	68435426	68435426	A	C	intergenic	GTSCR1,LOC100505776	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	-,-	-,-	ICGC,
chr10	7609307	7609307	T	A	intronic	ITIH5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr18	46807909	46807909	A	G	intronic	DYM	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	RECA-EU|1|422|0.00237	-	-	skeleton phenotype	Dyggve-Melchior-Clausen syndrome |Smith-McCort dysplasia	ICGC,
chr17	72528169	72528169	A	T	upstream	CD300LB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	immune system phenotype	-	ICGC,
chrX	138767492	138767492	C	G	intronic	MCF2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16985179	-	PRAD-CA|1|308|0.00325	-	-	reproductive system phenotype	Autism spectrum disorder	COSMIC,ICGC,
chr5	96609725	96609725	T	C	intergenic	RIOK2,LINC01340	unknown	SNV	-	-	-	3.231e-05	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr4	87149536	87149536	G	A	intronic	MAPK10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	Epileptic encephalopathy|Hirschsprung disease, modifier of|Intellectual disability  |Tricuspid atresia	ICGC,
chr12	115820503	115820503	G	A	intergenic	TBX3,MED13L	unknown	SNV	-	-	-	3.23e-05	-	-	-	-	-	COSN7311685	-	PACA-AU|1|391|0.00256	-	-	integument phenotype,-	Ulnar-mammary syndrome,Intellectual disability, nonsyndromic, no cardiac involvement|Hypotonia, learning difficulties & perimembranous ventricular septal defect|Hypotonia, intellectual disability, conotruncal heart defect & facial anomalies|Congenital heart defect|Colorectal cancer, increased risk, association with |Autism	COSMIC,ICGC,
chr18	22488520	22488520	T	C	intergenic	LOC729950,ZNF521	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1733587	-	LIRI-JP|1|258|0.00388	-	-	-,skeleton phenotype	-,-	COSMIC,ICGC,
chr13	29400987	29400987	T	-	intergenic	SLC46A3,MTUS2	unknown	deletion	-	-	-	-	-	-	-	-	-	COSN196581	-	BRCA-UK|1|141|0.00709,BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,COSMIC,ICGC,
chr5	9442078	9442078	G	T	intronic	SEMA5A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22488126	-	PACA-CA|1|268|0.00373,BRCA-EU|1|569|0.00176	-	-	mortality/aging	Double outlet right ventricle	COSMIC,ICGC,
chr3	2091739	2091739	G	T	intergenic	CNTN6,CNTN4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	behavior/neurological phenotype,nervous system phenotype	Intellectual disability  ,Spinocerebellar ataxia 16 |Features of 3p deletion syndrome|Autism spectrum disorder |Autism	ICGC,
chr9	107015345	107015345	C	T	intergenic	SMC2,OR13F1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr15	27121527	27121527	C	T	intronic	GABRA5	unknown	SNV	-	-	-	6.468e-05	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	skeleton phenotype	-	ICGC,
chr10	78996273	78996273	C	-	intronic	KCNMA1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	PRAD-UK|1|140|0.00714	-	-	mortality/aging	Hypertension, association with |Generalized epilepsy and paroxysmal dyskinesia|Autism	ICGC,
chr18	1157255	1157255	T	A	intergenic	ADCYAP1,LINC00470	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	mortality/aging,-	Sudden infant death syndrome, association with,-	ICGC,
chr12	126934631	126934631	A	-	ncRNA_intronic	LOC100128554	unknown	deletion	-	-	-	0.4607	rs11339045	-	0.525359	-	-	-	-	NKTL-SG|1|50|0.02000	-	-	-	-	ICGC,
chr3	97215657	97215657	-	A	intronic	EPHA6	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|2|71|0.02817	-	-	behavior/neurological phenotype	Alzheimer disease  	ICGC,
chr22	29361300	29361300	T	C	intronic	ZNRF3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN10029277	-	RECA-EU|1|422|0.00237	-	-	mortality/aging	-	COSMIC,ICGC,
chr8	6807115	6807115	G	A	intergenic	DEFA4,DEFA8P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr10	43599376	43599376	C	T	intronic	RET	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Pheochromocytoma|Phenotype modifier, association with|Phaeochromocytoma.|Phaeochromocytoma and paraganglioma|Phaeochromocytoma & medullary thyroid carcinoma|Phaeochromocytoma|Papillary thyroid carcinoma, association with|Multiple endocrine neoplasia 2C|Multiple endocrine neoplasia 2B.|Multiple endocrine neoplasia 2B|Multiple endocrine neoplasia 2A.|Multiple endocrine neoplasia 2a without MTC|Multiple endocrine neoplasia 2A & Cushing's disease|Primary vesicoureteral reflux, association with.|Reduced newborn kidney size and function|Urinary tract malformation|Thyroid carcinoma, medullary.|Thyroid carcinoma, medullary, association with.|Thyroid carcinoma, medullary|Thyroid carcinoma, familial medullary|Thyroid carcinoma |Thyroid cancer, metastatic, association with|Thyroid cancer, association with|Thyroid cancer and pheochromocytoma|Thyroid cancer|Thyroid C-cell hyperplasia|Renal agenesis / hypodysplasia |Renal agenesis |Multiple endocrine neoplasia 2A |Multiple endocrine neoplasia 2.|Aganglionosis, total colonic|Head and neck paragangliomas in Multiple Endocrine Neoplasia 2|Endocrine tumours, susceptibility, association with|Elevated hCt serum concentration, association with|Elevated basal serum hCT concentration|Elevated basal serum calcitonin|Differentiated thyroid cancer, increased risk, association with |Cutaneous melanoma, association with|Central hypoventilation syndrome|Bilateral phaeochromocytoma without medullary thyroid carcinoma|Bardet-Biedl syndrome|Autonomic control, congenital failure of |Anorectal malformation, association with|Hirschsprung disease|Hirschsprung disease / Multiple endocrine neoplasia 2 |Hirschsprung disease & hydrocephalus, X-linked |Multiple endocrine neoplasia 2|Multifollicular thyroid carcinoma |Multicystic dysplastic kidney |Medullary/papillary thyroid carcinomas, association with|Medullary thyroid carcinoma.|Medullary thyroid carcinoma, association with|Medullary thyroid carcinoma|Lymph node metastasis, association with|Hirschsprung disease, association with|Hirschsprung disease, protection against, association with|Hirschsprung disease.|Hyperparathyroidism|Intestinal pseudo-obstruction, association with	ICGC,
chr13	63441825	63441825	G	A	intergenic	LINC00448,LINC00395	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chrX	55136525	55136525	C	T	intergenic	PAGE2,FAM104B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5468836	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr4	34556924	34556924	G	A	intergenic	NONE,ARAP2	unknown	SNV	-	-	-	0.0463	rs73221801	-	0.0461262	-	0.130	-	-	LAML-KR|1|205|0.00488	-	-	-,-	-,-	ICGC,
chr2	26257516	26257516	C	T	exonic	RAB10	synonymous	SNV	-	-	3.271e-05	-	rs766666175	2.472e-05	-	-	-	COSM3720189	-	-	-	-	-	Congenital heart disease 	COSMIC,
chr18	76611202	76611202	G	A	intergenic	LINC01029,SALL3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,mortality/aging	-,-	ICGC,
chr11	79261026	79261026	A	G	intergenic	TENM4,LOC101928944	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27038617	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	-,-	COSMIC,ICGC,
chr2	112178008	112178008	C	T	ncRNA_intronic	MIR4435-1HG	unknown	SNV	-	-	-	3.238e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr1	18359508	18359508	G	A	intergenic	ACTL8,IGSF21	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	-,-	-,-	ICGC,
chr4	47926044	47926044	G	A	intergenic	NFXL1,CNGA1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN18798501	-	-	-	-	skeleton phenotype,-	-,Retinitis pigmentosa, autosomal recessive|Retinitis pigmentosa	COSMIC,
chr9	118615177	118615177	A	C	intergenic	LOC101928775,LINC00474	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr18	4073181	4073181	T	C	intronic	DLGAP1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5426956	-	LIRI-JP|1|258|0.00388	-	-	-	Schizophrenia  	COSMIC,COSMIC,ICGC,
chrY	21551666	21551666	T	C	intergenic	CD24,BCORP1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24427161	-	GACA-CN|1|123|0.00813	-	-	hematopoietic system phenotype,-	Systemic lupus erythematosus, susceptibility to, association with|Multiple sclerosis, increased risk, association with|Crohn's disease, increased risk, association with|Chronic hepatitis B virus infection, reduced risk, association|Chronic hepatitis B virus infection, increased risk, association|Autoimmune thyroid disease, association with|Autoimmune disease, protection, association with,-	COSMIC,ICGC,
chrX	95243023	95243023	C	T	intergenic	NONE,LOC643486	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20181010	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	COSMIC,ICGC,
chr16	61351869	61351869	G	A	intergenic	LOC729159,CDH8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Learning disability  |Autism & learning disability 	ICGC,
chr15	94713311	94713311	C	T	intergenic	LOC101927112,MCTP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	-,Coarctation of the aorta |Coarctation of the aorta and hypoplastic left heart syndrome 	ICGC,
chr22	21204292	21204292	A	T	intronic	PI4KA	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16257513	-	PRAD-CA|1|308|0.00325	-	-	integument phenotype	-	COSMIC,COSMIC,ICGC,
chrX	8430664	8430664	G	-	intergenic	VCX2,VCX3B	unknown	deletion	-	-	-	0.1012	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332,PRAD-UK|1|140|0.00714	-	-	-,-	-,-	ICGC,
chr12	88394312	88394312	A	G	intronic	C12orf50	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-	-	ICGC,
chr19	20747027	20747027	T	G	intronic	ZNF737	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr4	43270982	43270982	G	A	intergenic	GRXCR1,KCTD8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	behavior/neurological phenotype,-	Hearing impairment, nonsyndromic, autosomal recessive,-	ICGC,
chr14	49265426	49265426	T	C	intergenic	LINC00648,RPS29	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6252638	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr3	180934076	180934076	G	A	ncRNA_intronic	SOX2-OT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr3	194596805	194596805	G	A	intergenic	LOC100507391,XXYLT1	unknown	SNV	-	-	-	3.229e-05	rs536773201	-	0.000998403	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	69589294	69589294	-	GCTCTCTC	intergenic	DEPDC1-AS1,LRRC7	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,mortality/aging	-,-	ICGC,
chr11	41865233	41865233	CC	TT	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr3	151156202	151156202	T	C	exonic	IGSF10	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM1495433	KIPAN|1|799|0.00125,KIRC|1|451|0.00222	-	-	-	-	-	COSMIC,TCGA,
chr21	21310723	21310723	C	A	intergenic	LOC101927797,LINC00320	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	-,-	-,-	ICGC,
chr7	3935211	3935211	A	C	intronic	SDK1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr6	67114548	67114548	C	T	intergenic	SLC25A51P1,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr6	104497177	104497177	G	A	intergenic	GRIK2,HACE1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,tumorigenesis	Mental retardation, non-syndromic, autosomal recessive,Wilms tumour 	ICGC,
chr5	30514633	30514633	C	G	intergenic	LOC101929681,CDH6	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15356707	-	OV-AU|1|93|0.01075	-	-	-,renal/urinary system phenotype	-,-	COSMIC,COSMIC,ICGC,
chr6	10634162	10634162	G	C	intergenic	GCNT2,C6orf52	unknown	SNV	-	-	-	-	-	-	-	-	-	-	SARC|1|247|0.00405	-	-	-	integument phenotype,-	Paediatric cataract |I blood group variation|Congenital cataract|Autism, non-complex,-	TCGA,
chrX	11827975	11827975	G	T	intergenic	MSL3,FRMPD4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27695840	-	NKTL-SG|1|50|0.02000	-	-	-,integument phenotype	-,Mental retardation, X-linked	COSMIC,ICGC,
chr7	32638364	32638364	G	A	ncRNA_intronic	DPY19L1P1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr7	33823663	33823663	A	T	intergenic	BBS9,BMPER	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	Wilms tumour |Tetralogy of Fallot|Nephronophthisis-related ciliopathy|Bardet-Biedl syndrome,Diaphanospondylodysostosis	ICGC,
chr4	33313565	33313565	A	C	intergenic	NONE,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	140755505	140755505	G	A	exonic	PCDHGA6	nonsynonymous	SNV	0.001	0.999	-	-	-	-	-	-	-	COSM6102082	LUAD|1|543|0.00184	-	-	-	-	-	COSMIC,COSMIC,TCGA,
chr2	84846936	84846936	C	T	exonic	DNAH6	nonsynonymous	SNV	0.78	0.01	6.607e-06	-	-	-	-	-	-	COSM5924225	-	-	-	-	-	-	COSMIC,COSMIC,
chrX	84451984	84451984	G	A	intergenic	SATL1,LOC101928128	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|2|100|0.02000,MELA-AU|2|183|0.01093	-	-	-,-	Autism spectrum disorder|Potential protein deficiency,-	ICGC,
chr8	78597219	78597219	G	C	intergenic	PEX2,PKIA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-UK|1|141|0.00709	-	-	mortality/aging,normal phenotype	Zellweger syndrome|Refsum disease, infantile|Peroxisome biogenesis disorder|Cerebellar ataxia, autosomal recessive,-	ICGC,
chr6	125743177	125743177	G	C	intergenic	HDDC2,LOC643623	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7598652	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	COSMIC,ICGC,
chr5	26653959	26653959	A	C	intergenic	LOC340107,CDH9	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21007466	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr4	88510545	88510545	A	G	intergenic	SPARCL1,DSPP	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN4839596	-	MALY-DE|1|241|0.00415	-	-	vision/eye phenotype,craniofacial phenotype	-,Dentinogenesis imperfecta type III|Dentinogenesis imperfecta type II|Dentinogenesis imperfecta type I|Dentinogenesis imperfecta Shields type II|Dentin dysplasia type II|Dental disorder, non-syndromic	COSMIC,ICGC,
chr1	229035059	229035059	C	T	intergenic	RHOU,RAB4A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	244198124	244198124	C	T	ncRNA_intronic	LOC339529	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr18	76484965	76484965	C	T	intergenic	LINC01029,SALL3	unknown	SNV	-	-	-	9.683e-05	rs573292420	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,mortality/aging	-,-	ICGC,
chr18	71060609	71060609	G	T	intergenic	LOC100505817,FBXO15	unknown	SNV	-	-	-	0.3954	rs12968825	-	-	-	0.507	-	-	LAML-KR|1|205|0.00488	-	-	-,normal phenotype	-,-	ICGC,
chr10	62200122	62200122	G	A	intronic	ANK3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23637165	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Potential protein deficiency|Intellectual disability, ADHD-like syndrome & behavioural problems|Autism spectrum disorder|Autism|Attention deficit hyperactivity disorder, autism & sleeping problems	COSMIC,ICGC,
chr11	69625405	69625405	C	T	exonic	FGF3	nonsynonymous	SNV	0.021	1.0	-	-	-	-	-	-	-	COSM5954578	-	ORCA-IN|1|178|0.00562	-	-	mortality/aging	Syndromic deafness, microtia & microdontia|Syndromic deafness|Oto-dental syndrome|Odontoma-dysphagia syndrome|Michel aplasia, microtia & microdontia|Labyrinthine aplasia, microtia & microdontia|Craniosynostosis, intellectual disability and microcephaly|Craniosynostosis 	COSMIC,ICGC,
chr19	50358064	50358064	T	-	intronic	PTOV1	unknown	deletion	-	-	1.221e-05	-	rs745679865	8.338e-06	-	-	-	COSN26990934	-	-	-	-	-	-	COSMIC,
chr13	106247870	106247870	T	C	intergenic	DAOA-AS1,LINC00343	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25953439	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr10	34985316	34985316	A	C	exonic	PARD3	nonsynonymous	SNV	0.001	1.0	-	-	-	-	-	-	-	COSM3368025	THCA|2|504|0.00397	THCA-US|1|402|0.00249	-	-	mortality/aging	Neural tube defects	COSMIC,TCGA,ICGC,
chr11	132273357	132273357	G	T	intergenic	NTM,OPCML	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22264358	-	BRCA-EU|1|569|0.00176	-	-	-,no phenotypic analysis	Aortic aneurysm, thoracic & intracranial|Potential protein deficiency,Autism spectrum disorder  	COSMIC,ICGC,
chr10	78336736	78336736	G	A	intergenic	C10orf11,KCNMA1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5884151	-	LIRI-JP|1|258|0.00388	-	-	-,mortality/aging	Albinism, autosomal recessive|Mental retardation ,Hypertension, association with |Generalized epilepsy and paroxysmal dyskinesia|Autism	COSMIC,ICGC,
chrX	135402811	135402813	ACT	-	intronic	GPR112	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	Autism spectrum disorder	ICGC,
chrX	19735694	19735694	A	T	intronic	SH3KBP1	unknown	SNV	-	-	-	-	rs370995691	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype	-	ICGC,
chr3	99416810	99416810	A	-	ncRNA_intronic	MIR548G	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-	-	ICGC,
chr15	22945845	22945845	A	G	intronic	CYFIP1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1669594	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging	Schizophrenia  |Schizophrenia, association with  	COSMIC,ICGC,
chr4	159559166	159559166	T	G	exonic	RXFP1	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM1428294	COAD|1|367|0.00272,COADREAD|1|489|0.00204	COAD-US|1|254|0.00394	-	-	integument phenotype	-	COSMIC,TCGA,ICGC,
chr1	239261164	239261164	G	A	intergenic	LINC01139,CHRM3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|3|183|0.01639	-	-	-,vision/eye phenotype	-,Autistic disorder|Bladder malformation|Diabetes, type 2, increased risk, association |Tetralogy of Fallot	ICGC,
chr15	87385228	87385228	G	T	intronic	AGBL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-	Fuchs corneal dystrophy, late-onset 	ICGC,
chr7	138185622	138185622	C	A	intronic	TRIM24	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23692166	-	ESAD-UK|1|301|0.00332	-	-	cellular phenotype	-	COSMIC,ICGC,
chr3	83829202	83829202	T	C	intergenic	GBE1,LINC00971	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20310975	-	PAEN-AU|1|52|0.01923	-	-	mortality/aging,-	Potential protein deficiency|Polyglucosan body disease, relapsing-remitting form|Polyglucosan body disease, adult|Lethal multiple pterygium syndrome|Glycogen storage disease 4, non-lethal neuromuscular|Glycogen storage disease 4, neonatal|Glycogen storage disease 4|Autism spectrum disorder|Adult polyglucosan body disease,-	COSMIC,ICGC,
chr2	77365961	77365961	C	G	intronic	LRRTM4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26009083	-	ESAD-UK|1|301|0.00332	-	-	-	-	COSMIC,ICGC,
chrX	11715942	11715942	G	A	intergenic	ARHGAP6,MSL3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Microphthalamia with linear skin defects,-	ICGC,
chr2	41303719	41303719	C	T	intergenic	SLC8A1,LOC388942	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	mortality/aging,-	Colorectal cancer, increased risk, association with |Schizophrenia  ,-	ICGC,
chr13	38030225	38030225	C	G	intergenic	CSNK1A1L,LINC00547	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8668639	-	ESAD-UK|1|301|0.00332	-	-	-,-	Potential protein deficiency,-	COSMIC,ICGC,
chr14	29109872	29109872	T	C	intergenic	LINC00645,FOXG1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27034612	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	-,West syndrome |Rett-like syndrome|Rett syndrome|Refractory epilepsy & intellectual impairment|Microcephaly, mental retardation & thin genu of corpus callosum|Mental retardation, speech impairment & epilepsy|Mental retardation & speech impairment|Mental retardation & postnatal microcephaly|Mental retardation & callosum abnormalities|Mental retardation|Infantile spasms|Hemifacial microsomia|Generalized dystonia, athetosis and parkinsonism|Developmental delay, microcephaly & hypoplasia of the corpus callosum|Developmental delay, hypotonia, microcephaly & infantile spasms|Developmental delay & slow head growth|Agenesis of corpus callosum	COSMIC,ICGC,
chr6	85976301	85976302	CT	-	intergenic	TBX18,NT5E	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|2|67|0.02985	-	-	integument phenotype,hematopoietic system phenotype	Autism,Arterial & joint calcifications, symptomatic	ICGC,
chr1	239479616	239479616	C	T	intergenic	LINC01139,CHRM3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,vision/eye phenotype	-,Autistic disorder|Bladder malformation|Diabetes, type 2, increased risk, association |Tetralogy of Fallot	ICGC,
chr14	87212193	87212193	A	C	intergenic	LOC101928767,LOC283585	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	-,-	-,-	ICGC,
chr9	87148439	87148439	A	C	intergenic	SLC28A3,NTRK2	unknown	SNV	-	-	-	3.229e-05	-	-	-	-	-	COSN24732720	-	GACA-CN|1|123|0.00813	-	-	-,mortality/aging	Reduced sodium-binding capacity,Anxiety-related traits, association with|Obesity, hyperphagia, and developmental delay	COSMIC,ICGC,
chrX	69131706	69131706	G	A	intronic	EDA	unknown	SNV	-	-	-	0.0005	rs780550175	-	-	-	-	COSN6568498	-	PBCA-DE|1|499|0.00200	-	-	integument phenotype	Tooth agenesis.|Tooth agenesis|Oligodontia   |Hypodontia|Ectodermal dysplasia, X-linked hypohidrotic with bilateral glaucoma|Ectodermal dysplasia, hypohidrotic.|Ectodermal dysplasia, hypohidrotic & inability to sweat|Ectodermal dysplasia, hypohidrotic|Ectodermal dysplasia	COSMIC,ICGC,
chr17	7010482	7010482	G	T	intronic	ASGR2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	mortality/aging	-	ICGC,
chr1	145586648	145586648	G	T	exonic	NUDT17	nonsynonymous	SNV	-	-	-	-	-	-	-	-	-	COSM895228	-	-	-	-	-	-	COSMIC,
chrX	64074791	64074791	-	T	intergenic	MTMR8,ZC4H2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	Autism spectrum disorder,Arthrogryposis multiplex congenita and intellectual disability	ICGC,
chr2	186972885	186972885	G	A	intergenic	LOC101927217,ZC3H15	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr16	32822919	32822919	C	T	intergenic	TP53TG3,SLC6A10P	unknown	SNV	-	-	-	3.76e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr8	80301559	80301559	C	T	intergenic	IL7,STMN2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype,-	Increased expression,-	ICGC,
chr13	82553146	82553146	C	G	intergenic	SPRY2,SLITRK1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6233894	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging,mortality/aging	Cleft lip ,Trichotillomania|Tourette syndrome|Obsessive-compulsive disorder |Attention deficit hyperactivity disorder 	COSMIC,ICGC,
chr3	38649361	38649361	G	C	intronic	SCN5A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1276714	-	-	-	-	mortality/aging	Rapid ventricular tachycardia & intraventricular conduction delay|QTc interval, association with|QRS interval, association with|Phenotype modifier, association with|Nodal rhythm|Negative shift activation|Multifocal ectopic Purkinje-related premature contractions.|LQT3, conduction disorder, dilated cardiomyopathy|Longer QT interval, association with |Long QT syndrome.|Long QT syndrome, malignant perinatal variant|Long QT syndrome, drug-associated|Long QT syndrome and idiopathic ventricular fibrillation|Long QT syndrome and dilated cardiomyopathy|Long QT syndrome and Brugada syndrome|Long QT syndrome 3.|Romano-Ward syndrome|Sick sinus syndrome   |Sick sinus syndrome, autosomal recessive |Ventricular fibrillation, idiopathic|Ventricular fibrillation in coronary artery disease|Ventricular fibrillation during acute myocardial infarction|Ventricular arrhythmia, association with|SUDEP / epilepsy|Sudden unexplained nocturnal death syndrome, association with|Sudden unexplained nocturnal death syndrome|Sudden unexplained death  |Sudden infant death syndrome, association with|Sudden infant death syndrome  |Sudden cardiac death|Sudden adult death syndrome|Slow inactivation and negative shft inactivation|Sick sinus syndrome/Brugada syndrome|Sick sinus syndrome, conduction disease and Brugada syndrome|Ventricular tachycardia  |Arrhythmia, lidocaine-induced|Cardiac conduction disease|Cardiac arrhythmia, increased risk, association|Brugada-like ST elevation.|Brugada-like ST elevation|Brugada syndrome.|Brugada syndrome, lidocaine-induced|Brugada syndrome, asymptomatic|Brugada syndrome and epilepsy|Brugada syndrome|Brugada and short QT syndrome|Atrioventricular conduction block|Atrioventricular block, idiopathic|Atrial standstill|Atrial fibrillation|Arrhythmogenic right ventricular dysplasia  |Cardiac conduction disease and long QT syndrome|Cardiac sinus node dysfunction|Cardiac sinus node dysfunction.|Long QT syndrome 3, with concealed Brugada syndrome..|Long QT syndrome 2|Long QT syndrome & atrial fibrillation|Long QT syndrome|Lone atrial fibrillation, early-onset|Lone atrial fibrillation, association with|Lenegre-Lev disease|Increase in QT dispersion, association with|Idiopathic ventricular arrhythmia.|Cardiac sodium channelopathies|Cardiomyopathy, dilated|Dilated cardiomyopathy|Early repolarization syndrome|Electrocardiographic Traits, association with|Fever-induced arrhythmia|Heart block type 1	COSMIC,
chr15	46466085	46466085	A	C	intergenic	SQRDL,SEMA6D	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,immune system phenotype	-,Developmental language disorder 	ICGC,
chr5	45511960	45511960	C	T	intronic	HCN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Idiopathic epilepsy, generalised 	ICGC,
chr16	32506787	32506787	T	A	intergenic	LOC390705,TP53TG3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	OV-AU|1|93|0.01075	-	-	-,-	-,-	ICGC,
chr19	30260300	30260300	C	T	intergenic	C19orf12,CCNE1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	Spastic paraplegia 43|Neurodegeneration with brain iron accumulation 4|Neurodegeneration with brain iron accumulation  ,Nasopharyngeal carcinoma, increased risk, association with	ICGC,
chr19	31953816	31953816	C	T	intergenic	TSHZ3,THEG5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9354369	-	OV-AU|1|93|0.01075	-	-	integument phenotype,-	-,-	COSMIC,ICGC,
chr7	122120857	122120857	T	G	intronic	CADPS2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5095073	-	LINC-JP|1|394|0.00254	-	-	mortality/aging	Autism spectrum disorder	COSMIC,COSMIC,ICGC,
chr8	50748158	50748158	C	T	intergenic	C8orf22,SNTG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Autism|Intellectual disability, cleft palate, hearing loss and dysmorphisms	ICGC,
chr2	29485154	29485154	G	A	intronic	ALK	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22625873	-	BRCA-UK|1|141|0.00709,BRCA-EU|1|569|0.00176	-	-	-	Medulloblastoma |Neuroblastoma	COSMIC,ICGC,
chr7	79746082	79746082	-	AAAA	intergenic	MIR548M,GNAI1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|2|67|0.02985	-	-	-,immune system phenotype	-,-	ICGC,
chr15	43775991	43775991	G	A	ncRNA_intronic	RNU6-28P	unknown	SNV	-	-	-	-	rs150989867	-	-	-	-	COSN6273176	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr7	152805235	152805235	G	T	intergenic	ACTR3B,DPP6	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21708326	-	BRCA-UK|1|141|0.00709,BRCA-EU|1|569|0.00176	-	-	-,nervous system phenotype	-,Autism spectrum disorder  |Schizophrenia  |Ventricular fibrillation, idiopathic 	COSMIC,COSMIC,ICGC,
chr10	55535874	55535874	C	T	intergenic	MBL2,PCDH15	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	hematopoietic system phenotype,vision/eye phenotype	Leprosy, association with|Lung cancer survival, association with|Mannose-binding protein deficiency, association|Placental malaria, susceptibility to, association with|Systemic lupus erythematosus, association with|Tuberculosis, protection against, association with|Type 2 diabetes, association with|Ulcerative colitis, association with.|Vulvovaginal candidiasis, recurrent, association with|Lepromatous leprosy, protection against, association with|Kawasaki disease, association with|Antiphospholipid syndrome, association with|Bacterial infection, increased risk, association with|Colon cancer, association with|Crohn's disease, in children, association with|Dental caries, association with.|HIV-1 infection, increased susceptibility, association with|HIV-1 infection, susceptibility, association|Increased serum MBL level |Infection, in children, association with.,Usher syndrome II|Usher syndrome 1f|Usher syndrome 1|Lipid levels in hyperlipidaemia, association with|Hearing loss, non-syndromic|Deafness, non-syndromic, autosomal recessive|Deafness, non-syndromic |Deafness  	ICGC,
chr5	21701258	21701258	A	G	intergenic	GUSBP1,CDH12	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,Lung cancer, susceptibility to, association with	ICGC,
chr17	25268710	25268710	T	C	intergenic	NONE,MIR4522	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1194683	-	LINC-JP|1|394|0.00254	-	-	-,-	-,-	COSMIC,ICGC,
chr4	182677994	182677994	T	G	intergenic	LINC00290,MGC45800	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr17	29497018	29497100	AAGTTTAAATGTATAATATATCTGAAAAAAATCACTGGGTCAAAAACTAGTATCATGAATGTACTAATTATATTAATTGTGCT	-	intronic	NF1	unknown	deletion	-	-	-	-	-	-	-	-	-	COSM133144	-	-	-	-	integument phenotype	Neurofibromatosis-Noonan syndrome.|Neurofibromatosis-Noonan syndrome|Neurofibromatosis without cutaneous neurofibromas|Neurofibromatosis 1.|Neurofibromatosis 1 with ocular anomalies|Neurofibromatosis, spinal|Noonan syndrome|Noonan syndrome & neurofibromatosis 1|Phaeochromocytoma|Phaeochromocytoma.|Pilocytic astrocytoma|Plexiform neurofibromas |Neurofibromatosis 1 optic pathway gliomas|Neurofibromatosis 1|Neurofibromatosis  |Astrocytoma, pilocytic|Autism|Bilateral polymicrogyria in NF1|Cafe-au-lait patches|Chronic myelogenous leukaemia, juvenile |Congenital heart disease |Developmental delay, autism, epilepsy & dysmorphic features|Myelomonocytic leukaemia, juvenile|Multiple spinal ganglioneuromas|Mental retardation, association with|Glomus tumours in neurofibromatosis 1|Glioma	COSMIC,
chr12	8713827	8713827	C	A	intergenic	CLEC4E,AICDA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	hematopoietic system phenotype,integument phenotype	-,Hyper-IgM syndrome|Hyper-IgM syndrome, type 2	ICGC,
chr8	53324678	53324678	G	A	intergenic	ST18,FAM150A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	homeostasis/metabolism phenotype,-	-,-	ICGC,
chrX	75760769	75760769	G	A	intergenic	MAGEE1,LOC101928469	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chrX	125622116	125622116	G	A	intergenic	DCAF12L2,DCAF12L1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22082867	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr4	178163075	178163075	A	G	intergenic	VEGFC,NEIL3	unknown	SNV	-	-	-	0.1704	rs1813246	-	0.230631	-	0.188	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,immune system phenotype	Lymphoedema, primary, Milroy-like,-	ICGC,
chr13	32205997	32205997	A	G	intergenic	B3GALTL,RXFP2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17813905	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	Peters-Plus syndrome,Cryptorchidism 	COSMIC,ICGC,
chr11	83860894	83860894	G	A	intronic	DLG2	unknown	SNV	-	-	-	0.0386	rs71469629	-	0.0197684	-	0.007	-	-	COCA-CN|1|321|0.00312	-	-	integument phenotype	Schizophrenia and epilepsy|Myopathy  |Intellectual disability, autism and epilepsy|Hypochondriasis|Dysmorphic features & speech delay|Developmental delay and dysmorphic features|Developmental delay  	ICGC,
chr7	39905006	39905006	G	C	intergenic	LINC00265,CDK13	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-UK|1|140|0.00714	-	-	-,-	-,-	ICGC,
chr6	27119249	27119249	G	A	intergenic	MIR3143,PRSS16	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,hematopoietic system phenotype	-,-	ICGC,
chr4	56214544	56214544	A	T	intronic	SRD5A3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	mortality/aging	Kahrizi syndrome|Congenital disorder of glycosylation  |Cerebellar ataxia & congenital eye malformations	ICGC,
chr6	31723774	31723774	T	C	ncRNA_intronic	MSH5-SAPCD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chrX	86259389	86259389	A	T	intergenic	DACH2,KLHL4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	normal phenotype,-	-,-	ICGC,
chr16	1201665	1201665	T	G	intergenic	C1QTNF8,CACNA1H	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,cardiovascular system phenotype	-,Schizophrenia  |Idiopathic epilepsy, generalised|Epilepsy, childhood absence, association with|Epilepsy, childhood absence|Autism spectrum disorder |Altered channel function	ICGC,
chr22	34194867	34194867	A	G	intronic	LARGE	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5991513	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging	Alpha-dystroglycanopathy |Autism, non-complex|Fukushima congenital muscular dystrophy|Muscular dystrophy, congenital 1D|Walker-Warburg syndrome|Walker-Warburg syndrome.	COSMIC,ICGC,
chr5	94456191	94456191	T	C	intronic	MCTP1	unknown	SNV	-	-	-	0.5264	rs10070050	-	0.470447	-	0.522	-	-	ESAD-UK|2|301|0.00664,LAML-KR|1|205|0.00488	-	-	-	-	ICGC,
chrX	146288500	146288500	G	T	intergenic	CXorf51A,MIR506	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8167351	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	COSMIC,ICGC,
chr2	123833923	123833923	A	G	intergenic	TSN,CNTNAP5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	hematopoietic system phenotype,-	-,Autism	ICGC,
chrX	136649004	136649004	G	A	exonic	ZIC3	nonsynonymous	SNV	0.008	0.959	-	-	-	-	-	-	-	-	-	UCEC-US|1|250|0.00400	-	-	mortality/aging	Situs abnormality|Heterotaxy|Congenital heart disease |Cardiac malformation	ICGC,
chr15	93800053	93800053	C	T	intergenic	RGMA,LOC101927153	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Autism,-	ICGC,
chr9	68342871	68342871	A	G	intergenic	ANKRD20A3,LOC642236	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr2	241182702	241182702	C	T	intergenic	OTOS,GPC1	unknown	SNV	-	-	-	-	rs747520791	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	skeleton phenotype,homeostasis/metabolism phenotype	-,Biliary atresia, susceptibility to	ICGC,
chr14	95587733	95587733	T	C	intronic	DICER1	unknown	SNV	-	-	-	3.23e-05	-	-	-	-	-	COSN26660522	-	LICA-CN|1|402|0.00249	-	-	integument phenotype	Ovarian Sertoli-Leydig cell tumour|Ovarian Sertoli-Leydig tumour |Ovarian Sertoli-Leydig tumour & multinodular goitre|Ovarian sex cord stromal tumour|Pineoblastoma|Schizophrenia|Seminoma|Wilms tumour|Multinodular goiter|Medulloblastoma |Autism |Blastoma, pleuropulmonary|Cystic nephroma|Developmental delay, lung cysts, overgrowth & Wilms tumour|Embryonal rhabdomyosarcomas|Goitre, multinodular|Gynandroblastoma|Juvenile granulosa cell tumour	COSMIC,ICGC,
chrX	135496154	135496154	C	A	intronic	GPR112	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-	Autism spectrum disorder	ICGC,
chr4	20439578	20439578	C	T	intronic	SLIT2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588,MELA-AU|1|183|0.00546	-	-	mortality/aging	Schizophrenia  	ICGC,
chr8	83526295	83526295	A	C	intergenic	SNX16,LINC01419	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr6	112914723	112914723	A	T	intergenic	RFPL4B,MARCKS	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7781848	-	PACA-CA|1|268|0.00373	-	-	-,mortality/aging	-,-	COSMIC,ICGC,
chr16	13305989	13305989	A	G	intronic	SHISA9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	-	ICGC,
chr6	11950898	11950898	A	G	intergenic	ADTRP,HIVEP1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21942988	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,Schizophrenia  	COSMIC,ICGC,
chr6	103120869	103120869	T	G	intergenic	GRIK2,HACE1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	behavior/neurological phenotype,tumorigenesis	Mental retardation, non-syndromic, autosomal recessive,Wilms tumour 	ICGC,
chr6	123036869	123036869	T	-	intronic	PKIB	unknown	deletion	-	-	-	0.0002	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	normal phenotype	-	ICGC,
chr1	69119487	69119487	T	G	intergenic	DEPDC1-AS1,LRRC7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,-	ICGC,
chr4	136359016	136359016	C	A	intergenic	PABPC4L,LINC00613	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9006042	-	PAEN-AU|1|52|0.01923,MALY-DE|1|241|0.00415	-	-	-,-	Autism spectrum disorder  ,-	COSMIC,ICGC,
chr6	20122856	20122856	C	G	intronic	MBOAT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr6	167939590	167939590	A	T	intergenic	TCP10,LOC401286	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9501927	-	OV-AU|1|93|0.01075	-	-	-,-	-,-	COSMIC,ICGC,
chr8	113180310	113180310	C	T	intergenic	NONE,CSMD3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,Schizophrenia  |Colorectal cancer 	ICGC,
chr19	41965100	41965100	T	C	ncRNA_intronic	PCAT19	unknown	SNV	-	-	-	3.234e-05	-	-	-	-	-	COSN20610518	-	BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr9	11871746	11871746	G	T	intergenic	PTPRD-AS2,TYRP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	-,Albinism, oculocutaneous  |Albinism, oculocutaneous 3|Melanesian blond hair	ICGC,
chr2	71591162	71591162	A	G	exonic	ZNF638	unknown	SNV	-	-	4.061e-06	-	rs755599692	8.237e-06	-	-	-	COSM5397318	-	-	-	-	-	Autism	COSMIC,COSMIC,COSMIC,
chr2	153808935	153808935	A	G	intergenic	ARL6IP6,RPRM	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	Autism spectrum disorder|Bardet-Biedl like features,-	ICGC,
chr8	76738373	76738373	T	C	intergenic	HNF4G,LINC01111	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2289772	-	LIRI-JP|1|258|0.00388	-	-	respiratory system phenotype,-	-,-	COSMIC,ICGC,
chr11	344470	344470	T	G	intergenic	IFITM3,B4GALNT4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	Tuberculosis, susceptibility to, association with|Potential protein deficiency|Influenza, severe, increased risk,-	ICGC,
chr2	221841858	221841858	G	A	intergenic	MIR4268,EPHA4	unknown	SNV	-	-	-	0.0016	rs189740217	-	0.00179712	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,reproductive system phenotype	-,Amyotrophic lateral sclerosis, reduced disease severity	ICGC,
chr3	37435578	37435578	T	A	intergenic	GOLGA4,C3orf35	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2495296	-	-	-	-	-,-	-,Anorectal malformation|Potential protein deficiency	COSMIC,
chr7	39767068	39767068	C	T	intergenic	RALA,LINC00265	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr6	144379924	144379924	A	T	intronic	PLAGL1	unknown	SNV	-	-	-	0.1685	rs73594687	-	0.230032	-	0.341	-	-	LAML-KR|2|205|0.00976	-	-	integument phenotype	Ventricular septal defect, isolated	ICGC,
chr18	49199069	49199069	C	A	intergenic	LOC100287225,DCC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,mortality/aging	-,Altered p53 transactivation|Colorectal cancer, risk, association with |Mirror movements, congenital	ICGC,
chr7	154122688	154122688	-	AAAAGTGTGT	intronic	DPP6	unknown	insertion	-	-	-	0.0002	-	-	-	-	-	COSN27425867	-	-	-	-	nervous system phenotype	Autism spectrum disorder  |Schizophrenia  |Ventricular fibrillation, idiopathic 	COSMIC,
chr8	54098052	54098052	C	T	intergenic	NPBWR1,OPRK1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	behavior/neurological phenotype,integument phenotype	Altered receptor function,Alcohol dependence, association with|Opiate addiction, association with 	ICGC,
chr21	21109731	21109731	-	GTGT	intergenic	LOC101927797,LINC00320	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|3|67|0.04478	-	-	-,-	-,-	ICGC,
chr5	11257751	11257751	C	A	intronic	CTNND2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	Schizophrenia  |Lennox-Gastaut syndrome |Autism spectrum disorder|Anorectal malformation|Altered localisation	ICGC,
chr4	128381137	128381137	C	-	intergenic	MIR2054,INTU	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-,mortality/aging	-,Anorectal malformation	ICGC,
chr14	81121839	81121839	C	T	intronic	CEP128	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr7	90518806	90518806	A	C	intronic	CDK14	unknown	SNV	-	-	-	0.0051	rs144161525	-	0.00159744	-	0.007	-	-	MALY-DE|1|241|0.00415	-	-	-	Potential protein deficiency	ICGC,
chr6	15302971	15302971	T	C	intronic	JARID2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Cognitive impairment, gait disturbance & characteristic facial appearance|Cognitive impairment, gait disturbance, characteristic facial appearance, intellectual disability & behavioural abnormalities|Schizophrenia	ICGC,
chr17	38447986	38447990	TTTGT	-	intronic	CDC6	unknown	deletion	-	-	-	0.0005	-	-	-	-	-	-	-	GACA-JP|1|585|0.00171	-	-	mortality/aging	Meier-Gorlin syndrome|Lung function of ex-smokers, association with|Hepatocellular carcinoma, reduced risk, association with|Colorectal cancer, increased risk, association with	ICGC,
chrX	27840003	27840003	G	A	exonic	MAGEB10	nonsynonymous	SNV	0.318	0.364	-	-	-	-	-	-	-	COSM4883031	-	ORCA-IN|1|178|0.00562	-	-	-	-	COSMIC,COSMIC,ICGC,
chr4	133966222	133966222	T	C	intergenic	NONE,PCDH10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,mortality/aging	-,Schizophrenia|Potential protein deficiency	ICGC,
chr3	87718087	87718087	A	T	intergenic	POU1F1,HTR1F	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,integument phenotype	Mental retardation, in women, association with|Pituitary hormone deficiencies, multiple|Pituitary hormone deficiency,-	ICGC,
chr11	90907517	90907517	T	C	intergenic	DISC1FP1,FAT3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8537300	-	MALY-DE|1|241|0.00415	-	-	-,vision/eye phenotype	-,Autism spectrum disorder	COSMIC,ICGC,
chr5	97086302	97086302	G	A	intergenic	LINC01340,RGMB	unknown	SNV	-	-	-	-	rs565274713	-	0.000199681	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,-	ICGC,
chr1	108170233	108170233	T	G	intronic	VAV3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1400247	-	LIRI-JP|1|258|0.00388	-	-	hematopoietic system phenotype	Autism|Schizophrenia, reduced risk, association with 	COSMIC,ICGC,
chr4	92529575	92529575	G	A	intergenic	CCSER1,GRID2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Cerebellar ataxia & tonic upgaze|Cerebellar ataxia and atrophy|Schizophrenia|Spastic paraplegia, complicated	ICGC,
chr6	55381132	55381132	C	T	intronic	HMGCLL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-	-	ICGC,
chr10	45794231	45794231	A	G	intergenic	ANKRD30BP3,OR13A1	unknown	SNV	-	-	-	0.6741	rs7912175	-	0.665535	-	0.674	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr8	65045772	65045772	C	T	intergenic	LINC01289,MIR124-2HG	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr15	65584453	65584453	-	TTTTTT	intergenic	PARP16,IGDCC3	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,behavior/neurological phenotype	-,-	ICGC,
chr6	87005972	87005972	C	T	intergenic	SNHG5,HTR1E	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	ICGC,
chr20	12706379	12706379	A	-	intergenic	BTBD3,LOC101929486	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	ICGC,
chr6	38625791	38625791	G	A	intergenic	BTBD9,GLO1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	behavior/neurological phenotype,-	Periodic limb movements in sleep, association ,Schizophrenia pathology, association with |Familial autism, protection against|Carbonyl stress in schizophrenia, association with  |Carbonyl stress in schizophrenia |Autism, association with	ICGC,
chr2	222229293	222229293	C	T	intergenic	MIR4268,EPHA4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5498131	-	LIRI-JP|1|258|0.00388	-	-	-,reproductive system phenotype	-,Amyotrophic lateral sclerosis, reduced disease severity	COSMIC,ICGC,
chr4	166874088	166874088	C	T	intronic	TLL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype	Hyperinsulinism|Atrial septal defect  	ICGC,
chr12	64765581	64765581	G	A	intronic	C12orf56	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr9	11195949	11195949	T	C	intergenic	PTPRD-AS2,TYRP1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25359169	-	MALY-DE|1|241|0.00415	-	-	-,integument phenotype	-,Albinism, oculocutaneous  |Albinism, oculocutaneous 3|Melanesian blond hair	COSMIC,ICGC,
chr6	144086805	144086805	G	A	exonic	PHACTR2	nonsynonymous	SNV	0.313	0.007	0.0001	-	rs186432598	7.467e-05	0.000399361	-	0.007	COSM5040373	-	-	-	-	-	-	COSMIC,COSMIC,
chr11	40213302	40213302	G	A	intronic	LRRC4C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr13	22494106	22494106	C	T	intergenic	LINC00424,LINC00540	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	96957721	96957721	A	T	ncRNA_intronic	LINC01340	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr6	79383792	79383792	C	T	intergenic	MEI4,IRAK1BP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,no phenotypic analysis	-,-	ICGC,
chr11	107434978	107434978	T	C	intronic	ALKBH8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	normal phenotype	Potential protein deficiency	ICGC,
chr10	9113625	9113625	T	G	intergenic	LINC00708,LOC101928272	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	188085725	188085725	C	A	intergenic	FAT1,LOC339975	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27776625	-	UTCA-FR|1|20|0.05000	-	-	integument phenotype,-	Autism,-	COSMIC,ICGC,
chr4	178980077	178980077	G	A	intergenic	LINC01098,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,-	-,-	ICGC,
chr10	115146795	115146795	C	A	intergenic	TCF7L2,HABP2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN18823951	-	-	-	-	integument phenotype,-	Reduced activity|Impaired islet function and morphology|Glaucoma, primary congenital|Diaphragmatic hernia, congenital |Diabetes, type 2, association with|Diabetes, latent autoimmune, susceptibility,Carotid stenosis, association with|Stroke, increased risk|Venous thrombosis, increased risk, association with	COSMIC,
chr2	216034068	216034068	G	A	intergenic	ABCA12,ATIC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,-	Ichthyosis, lamellar, type 2|Ichthyosis, harlequin|Ichthyosis, congenital, autosomal recessive|Ichthyosis|Ichthyosiform erythroderma, congenital, nonbullous|Ichthyosiform erythroderma, congenital|Autism,AICA-Ribosiduria	ICGC,
chr3	67226393	67226393	G	A	intergenic	KBTBD8,MIR4272	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr10	132803950	132803950	T	C	intergenic	MIR378C,TCERG1L	unknown	SNV	-	-	-	0.3350	rs11017653	-	0.30611	-	0.384	-	-	ESAD-UK|1|301|0.00332,LAML-KR|2|205|0.00976	-	-	-,-	-,-	ICGC,
chr4	172082836	172082836	T	A	intergenic	LOC100506122,MIR6082	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr10	130169585	130169585	C	T	intergenic	LINC01163,MGMT	unknown	SNV	-	-	-	-	rs568694591	-	0.000199681	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,MGMT methylation in malignant pleural mesothelioma, association with|Non-Hodgkin lymphoma, increased risk|Pancreatic cancer, increased risk, association with|Promoter methylation and longer survival in glioblastoma patients, association with|Promoter methylation in colorectal cancer |MGMT methylation in lung cancer, increased risk, association with|MGMT methylation in colorectal cancer, association with|Lung cancer, risk, association with|Glioblastoma, reduced risk, association with |Endometrial cancer risk, association with|Cervical carcinoma, increased risk, association with|Cancer, increased risk|Altered enzyme activity	ICGC,
chr1	221141615	221141615	A	G	intergenic	HLX,C1orf140	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,-	Asthma, association with|Diaphragmatic hernia, congenital ,-	ICGC,
chr6	164475662	164475662	C	A	intergenic	QKI,C6orf118	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	mortality/aging,-	6q terminal deletion syndrome,-	ICGC,
chr9	5877702	5877702	T	G	intergenic	ERMP1,MLANA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	Alzheimer disease  ,-	ICGC,
chr17	12187383	12187386	GTTC	-	intergenic	MAP2K4,LINC00670	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	mortality/aging,-	Acute myeloid leukaemia, reduced risk, association with|Cervical cancer, reduced risk, association with.|Colorectal cancer, reduced risk, association with|Prostate cancer, decreased risk,-	ICGC,
chr10	84327390	84327390	A	C	intronic	NRG3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ORCA-IN|1|178|0.00562	-	-	integument phenotype	Schizophrenia, association with |Increased ventrolateral PFC activation|Hirschsprung disease  	ICGC,
chr11	49745294	49745294	G	A	ncRNA_intronic	LOC440040	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr3	144373054	144373054	C	A	intergenic	C3orf58,PLOD2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Bruck syndrome	ICGC,
chr21	37133756	37133756	T	C	intergenic	MIR802,LOC101928269	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	RECA-EU|1|422|0.00237	-	-	-,-	-,-	ICGC,
chr2	31347637	31347637	C	A	intronic	GALNT14	unknown	SNV	-	-	-	0.5133	rs17394359	-	0.583666	-	0.478	-	-	ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488	-	-	-	-	ICGC,
chr7	20819099	20819099	G	A	intergenic	ABCB5,SP8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	Autism spectrum disorder,Orofacial clefting 	ICGC,
chr1	173948871	173948871	C	T	intronic	RC3H1	unknown	SNV	-	-	-	9.687e-05	rs547831614	-	0.000199681	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging	-	ICGC,
chr2	11123453	11123453	C	A	intergenic	KCNF1,FLJ33534	unknown	SNV	-	-	-	0.1654	rs59011167	-	0.134185	-	0.246	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr1	200100774	200100774	T	G	intronic	NR5A2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging	-	ICGC,
chr17	15272157	15272157	C	T	intergenic	TEKT3,TVP23C-CDRT4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7160796	-	PACA-AU|1|391|0.00256	-	-	reproductive system phenotype,-	-,-	COSMIC,ICGC,
chr17	48491281	48491281	G	A	intergenic	LRRC59,ACSF2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	82808378	82808378	T	C	intergenic	LOC100507201,LOC1720	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1860219	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr3	197169545	197169545	-	A	intergenic	DLG1-AS1,BDH1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr14	60763132	60763132	-	A	UTR3	PPM1A	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN23079453	-	-	-	-	integument phenotype	-	COSMIC,
chr9	90364627	90364627	T	C	intergenic	CTSL,CTSL3P	unknown	SNV	-	-	-	0.5287	rs1927982	-	0.588059	-	0.536	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr14	33084357	33084357	G	A	intronic	AKAP6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	-	ICGC,
chr18	27045798	27045798	G	C	intergenic	CDH2,MIR302F	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21348781	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging,-	Reduced expression|Potential protein deficiency|Alzheimer disease  ,-	COSMIC,ICGC,
chr4	11233970	11233970	G	A	intergenic	CLNK,MIR572	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	hematopoietic system phenotype,-	Immunodeficiency, common variable, association with,-	ICGC,
chr9	29226972	29226972	A	C	intergenic	LINGO2,LINC01242	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8333477	-	ESAD-UK|1|301|0.00332	-	-	-,-	Autism spectrum disorder  |Developmental delay with absent speech,-	COSMIC,ICGC,
chr12	55542784	55542784	G	A	intergenic	OR9K2,OR10A7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr11	77499992	77499992	G	A	intronic	RSF1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr12	17647856	17647856	C	T	intergenic	SKP1P2,MIR3974	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr10	60582540	60582540	C	T	intronic	BICC1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Cystic renal dysplasia	ICGC,
chrY	18173510	18173510	G	T	intergenic	NLGN4Y,FAM41AY1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	Autism  ,-	ICGC,
chr13	95075059	95075059	T	G	intergenic	GPC6,DCT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	Omodysplasia|Pancreatic cancer ,-	ICGC,
chr1	99837451	99837451	A	G	intergenic	LPPR4,PALMD	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1465845	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging,-	-,-	COSMIC,ICGC,
chr3	127146632	127146632	C	A	intergenic	LOC101927123,TPRA1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-,-	-,-	ICGC,
chr20	38074845	38074845	G	A	intergenic	LOC339568,LINC01370	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN10015418	-	RECA-EU|1|422|0.00237	-	-	-,-	-,-	COSMIC,ICGC,
chr6	98197775	98197775	T	G	intergenic	LOC101927314,MIR2113	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr18	63832576	63832576	C	T	intergenic	CDH7,CDH19	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332,MELA-AU|1|183|0.00546	-	-	-,-	-,Tetralogy of Fallot	ICGC,
chr8	52834828	52834828	A	G	intergenic	PCMTD1,ST18	unknown	SNV	-	-	-	0.1090	rs6473665	-	0.124201	-	0.116	-	-	LAML-KR|1|205|0.00488	-	-	-,homeostasis/metabolism phenotype	-,-	ICGC,
chr14	30318116	30318116	G	T	intronic	PRKD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Autism spectrum disorder|Mental retardation and microcephaly|Obesity 	ICGC,
chr17	55411596	55411596	A	G	intronic	MSI2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	mortality/aging	-	ICGC,
chr1	206902146	206902146	A	G	exonic	MAPKAPK2	nonsynonymous	SNV	0.001	1.0	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging	Lung cancer, increased risk, association with|Nasopharyngeal carcinoma, EBV associated, increased risk	ICGC,
chr9	128499956	128499956	G	T	intergenic	MAPKAP1,LOC51145	unknown	SNV	-	-	-	0.7111	rs10819064	-	0.740815	-	0.797	-	-	LAML-KR|1|205|0.00488	-	-	mortality/aging,-	Breast cancer, non-BRCA1/BRCA2 related,-	ICGC,
chr2	29738026	29738026	T	C	intronic	ALK	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Medulloblastoma |Neuroblastoma	ICGC,
chr6	40171970	40171982	GAATATGTGTGAC	-	intergenic	MOCS1,LINC00951	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype,-	Molybdenum cofactor deficiency,Esophageal squamous cell carcinoma, reduced risk	ICGC,
chr4	142448739	142448739	C	A	intergenic	LOC100507639,IL15	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,mortality/aging	-,-	ICGC,
chr2	179036506	179036538	TTCAGACTATGTGTGCCTTCAAATCTAAAATGA	-	intergenic	RBM45,OSBPL6	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr3	145584058	145584058	G	T	intergenic	C3orf58,PLOD2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,Bruck syndrome	ICGC,
chr2	11742778	11742778	G	A	intronic	GREB1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr14	45020615	45020615	C	T	intergenic	FSCB,C14orf28	unknown	SNV	-	-	-	0.1847	rs111891132	-	0.103634	-	0.094	-	-	LAML-KR|1|205|0.00488	-	-	-,-	Tourette syndrome ,Schizophrenia	ICGC,
chr1	102018339	102018339	-	ATATA	intergenic	RNU6-31P,OLFM3	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	-,-	-,-	ICGC,
chr2	188584097	188584097	C	T	intergenic	TFPI,GULP1	unknown	SNV	-	-	-	6.509e-05	rs748564210	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	integument phenotype,-	Increased plasma TFPI|Lower plasma TFPI|Reduced expression|Thrombophilia, association with,-	ICGC,
chr18	67038476	67038476	A	G	intergenic	CCDC102B,DOK6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr15	24622841	24622841	G	A	intergenic	PWRN2,PWRN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr14	48579498	48579498	A	C	intergenic	LINC00648,RPS29	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr8	1176291	1176291	T	C	intergenic	ERICH1-AS1,LOC286083	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr8	63231919	63231919	T	A	intronic	NKAIN3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-	Dravet syndrome   	ICGC,
chr19	30699409	30699409	G	A	intergenic	URI1,ZNF536	unknown	SNV	-	-	-	0.0001	-	-	-	-	-	-	-	LAML-KR|1|205|0.00488	-	-	-,-	-,Schizophrenia	ICGC,
chr1	164306018	164306018	T	G	intergenic	LOC100422212,PBX1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17714595	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	-,Schizophrenia	COSMIC,ICGC,
chr5	117105856	117105856	G	A	ncRNA_intronic	LOC102467224	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr6	18020127	18020127	G	A	intergenic	KIF13A,NHLRC1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,other phenotype	-,Seizures, extrapyramidal signs, and dementia without disabling myoclonus and ataxia.|Myoclonic epilepsy of Lafora	ICGC,
chr5	31373451	31373451	G	A	intergenic	CDH6,DROSHA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	renal/urinary system phenotype,integument phenotype	-,Epithelial ovarian cancer, increased risk, association |Lung cancer, survival, association with 	ICGC,
chr19	6944215	6944215	G	C	intergenic	EMR1,EMR4P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	immune system phenotype,-	Schizophrenia,-	ICGC,
chr4	189657898	189657898	A	T	intergenic	LINC01060,LINC01262	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr11	98153232	98153232	T	G	intergenic	MIR7976,CNTN5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,behavior/neurological phenotype	-,-	ICGC,
chr4	85361743	85361743	T	C	intergenic	AGPAT9,NKX6-1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6846259	-	LIRI-JP|1|258|0.00388	-	-	-,mortality/aging	-,-	COSMIC,ICGC,
chr9	80662760	80662760	T	C	intergenic	GNAQ,CEP78	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	integument phenotype,-	Potential protein deficiency|Increased promoter activity, association with|Developmental delay  |Decreased transcription|Decreased insulin resistance and BMI in PCOS, association with|Cardiac hypertrophy,-	ICGC,
chr10	110310859	110310859	T	C	intergenic	SORCS1,RNU6-53P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	other phenotype,-	Autism ,-	ICGC,
chr16	64069990	64069990	G	A	intergenic	CDH8,CDH11	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,integument phenotype	Learning disability  |Autism & learning disability ,-	ICGC,
chr3	144091536	144091536	T	C	intergenic	C3orf58,PLOD2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6733877	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,Bruck syndrome	COSMIC,ICGC,
chr20	58409458	58409458	G	C	intronic	PHACTR3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN14503379	-	PACA-AU|1|391|0.00256	-	-	-	-	COSMIC,ICGC,
chr5	160585204	160585204	G	A	intergenic	LOC285629,GABRB2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,skeleton phenotype	-,-	ICGC,
chr11	80456412	80456412	A	T	intergenic	TENM4,LOC101928944	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	-,-	ICGC,
chr7	37694651	37694651	G	T	intergenic	ELMO1,GPR141	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN14924745	-	ESAD-UK|1|301|0.00332	-	-	reproductive system phenotype,-	-,-	COSMIC,ICGC,
chr2	5837020	5837020	G	T	UTR3	SOX11	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	integument phenotype	-	ICGC,
chr5	86878355	86878355	C	T	intergenic	CCNH,TMEM161B	unknown	SNV	-	-	-	0.0002	-	-	-	-	-	-	-	MELA-AU|3|183|0.01639	-	-	-,-	-,-	ICGC,
chr6	126608568	126608568	C	T	intergenic	MIR5695,CENPW	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr14	69903677	69903677	C	T	intronic	SLC39A9	unknown	SNV	-	-	-	6.458e-05	rs761269590	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chrX	49014447	49014447	T	G	intergenic	GPKOW,MAGIX	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9883381	-	RECA-EU|1|422|0.00237	-	-	-,-	-,-	COSMIC,ICGC,
chr18	29187741	29187741	A	C	intergenic	TTR,B4GALT6	unknown	SNV	-	-	-	0.4543	rs1791199	-	0.49381	-	0.565	-	-	LAML-KR|1|205|0.00488	-	-	vision/eye phenotype,normal phenotype	Amyloidotic vitreous opacities|Cardiomyopathy|Cardiomyopathy & late-onset polyneuropathy of lower limbs |Euthyroid hyperthyroxinaemia|Familial amyloid polyneuropathy presenting hydrocephalus.|Heart failure and cardiac involvement|Motor neuropathy|Oculoleptomeningeal amyloidosis|Oculoleptomeningeal amyloidosis.|Amyloidotic polyneuropathy.|Amyloidotic polyneuropathy|Amyloidosis|Amyloidosis, cardiac|Amyloidosis, cardiac, late-onset|Amyloidosis, cardiac.|Amyloidosis, meningocerebrovascular|Amyloidosis, modifier of|Amyloidosis, oculoleptomeningeal|Amyloidosis, transthyretin|Amyloidosis.,-	ICGC,
chr4	93158281	93158281	A	T	intergenic	CCSER1,GRID2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2050726	-	LIRI-JP|1|258|0.00388	-	-	-,mortality/aging	-,Cerebellar ataxia & tonic upgaze|Cerebellar ataxia and atrophy|Schizophrenia|Spastic paraplegia, complicated	COSMIC,ICGC,
chr17	15289145	15289145	G	A	intergenic	TEKT3,TVP23C-CDRT4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8832144	-	OV-AU|1|93|0.01075	-	-	reproductive system phenotype,-	-,-	COSMIC,ICGC,
chr7	24081152	24081152	G	A	intergenic	STK31,NPY	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,skeleton phenotype	-,Major depressive disorder, association with|Metabolic syndrome in coronary artery disease, association with|Schizophrenia, association with|Serum leptin levels, and waist-hip ratio, in women, association with.|Hypertension, association with|Huntington disease, age at onset, association with|Elevated plasma LDL, association with|Diabetes, type II,  in middle-aged subjects, association with|Coronary artery disease, association with|Altered response to growth factors, association with|Alcohol dependence, association with|Stress response	ICGC,
chr14	25747159	25747159	G	A	intergenic	STXBP6,NOVA1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,-	ICGC,
chr10	115943550	115943550	C	T	intronic	TDRD1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17672676	-	ESAD-UK|1|301|0.00332	-	-	reproductive system phenotype	-	COSMIC,ICGC,
chr18	33954761	33954761	C	T	intronic	FHOD3	unknown	SNV	-	-	-	3.229e-05	-	-	-	-	-	COSN26737250	-	PRAD-FR|1|25|0.04000	-	-	mortality/aging	Cardiomyopathy, dilated|Cardiomyopathy, hypertrophic, association with	COSMIC,ICGC,
chr15	61537258	61537258	C	T	intergenic	RORA,VPS13C	unknown	SNV	-	-	-	3.24e-05	-	-	-	-	-	COSN15727725	-	LIRI-JP|1|258|0.00388	-	-	integument phenotype,-	Obesity,Schizophrenia  	COSMIC,ICGC,
chr9	104820020	104820020	G	T	intergenic	GRIN3A,LINC00587	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	vision/eye phenotype,-	Schizophrenia, increased risk |Schizophrenia |Potential protein deficiency,-	ICGC,
chr10	95795181	95795181	GG	AA	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr7	75240426	75240426	A	C	intronic	HIP1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21785941	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging	Epilepsy & learning difficulties|Ovarian cancer 	COSMIC,ICGC,
chr6	98355388	98355388	A	T	intergenic	LOC101927314,MIR2113	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20182994	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	COSMIC,ICGC,
chr6	62307623	62307623	G	A	intergenic	MTRNR2L9,KHDRBS2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr17	52334650	52334650	A	G	intergenic	KIF2B,TOM1L1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr10	122899412	122899412	G	A	intergenic	MIR5694,FGFR2	unknown	SNV	-	-	-	0.0002	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Crouzon syndrome with ventricular septal defect.|Crouzon syndrome, atypical|Crouzon syndrome.|Hypospadias |Jackson-Weiss syndrome|Lacrimo-auriculo-dento-digital syndrome|Pfeiffer syndrome|Pfeiffer syndrome, Crouzon syndrome.|Pfeiffer syndrome.|Reduced transcription|Saethre-Chotzen syndrome|Saethre-Chotzen-like|Crouzon syndrome with atrial septal defect.|Crouzon syndrome|Antley-Bixler syndrome|Antley-Bixler, Beare-Stevenson & Pfeiffer syndromes|Apert syndrome|Beare-Stevenson cutis gyrata syndrome|Bent bone dysplasia |Breast cancer, association with.|Breast cancer, increased risk, association with|Breast cancer, reduced risk, association with|Cleft lip and palate|Cleft lip, non-syndromic |Craniosynostosis|Craniosynostosis, predisposition to 	ICGC,
chr18	54202096	54202096	G	A	intergenic	LOC100505474,TXNL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr2	172571204	172571204	T	C	intronic	DYNC1I2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging	-	ICGC,
chr9	38209706	38209706	G	A	intergenic	SHB,ALDH1B1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	-,-	ICGC,
chr6	99702720	99702720	G	T	intergenic	FBXL4,FAXC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	Mitochondrial encephalopathy, early-onset,-	ICGC,
chr15	29798086	29798086	C	G	intronic	FAM189A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	-	ICGC,
chr12	112509629	112509629	-	GGTGGTCGCCGT	intronic	NAA25	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	NKTL-SG|1|50|0.02000	-	-	-	-	ICGC,
chr13	87290310	87290310	T	G	intergenic	SLITRK6,MIR4500HG	unknown	SNV	-	-	-	0.0036	rs2078302	-	0.00459265	-	0.014	COSN25074015	-	MALY-DE|1|241|0.00415	-	-	behavior/neurological phenotype,-	High myopia and sensorineural deafness,-	COSMIC,ICGC,
chr5	99770252	99770252	T	G	intergenic	LOC100133050,FAM174A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr2	148824715	148824715	C	A	intronic	MBD5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	Seizures, developmental delay & dysmorphic features|Psychological and neurodevelopmental abnormalities|Mental retardation |Lennox-Gastaut syndrome |Kleefstra syndrome|Intellectual disability and epilepsy|Intellectual disability & autistic features|Intellectual disability  |2q23.1 microdeletion syndrome|Autism|Autism spectrum disorder  |Autism spectrum disorder, association with|Developmental delay and obesity|Developmental delay, postnatal microcephaly & facial anomalies	ICGC,
chr6	54302429	54302429	-	T	intergenic	TINAG,FAM83B	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN23298569	-	-	-	-	-,-	Chronic renal failure, childhood-onset,-	COSMIC,
chr1	177180708	177180708	T	A	intronic	BRINP2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6430611	-	LICA-FR|1|252|0.00397	-	-	-	-	COSMIC,ICGC,
chr2	19703280	19703280	C	T	intergenic	OSR1,LINC00954	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,-	Reduced newborn kidney size and function, association,-	ICGC,
chr2	145188626	145188626	A	T	intronic	ZEB2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17907518	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging	Mowat-Wilson syndrome with cholestasis and biliary atresia|Mowat-Wilson syndrome with asplenia|Mowat-Wilson syndrome|Hirschsprung disease, modifier of|Hirschsprung disease-structural eye anomalies|Hirschsprung disease-mental retardation syndrome|Brain malformations 	COSMIC,ICGC,
chr8	111774084	111774084	C	A	intergenic	KCNV1,CSMD3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	behavior/neurological phenotype,-	-,Schizophrenia  |Colorectal cancer 	ICGC,
chr12	39305934	39305934	A	G	intergenic	CPNE8,KIF21A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,CFEOM1 & Marcus Gunn jaw-winking syndrome|Congenital fibrosis of the extraocular muscles 1|Congenital fibrosis of the extraocular muscles 1 & Möbius syndrome	ICGC,
chr10	91823983	91823983	T	C	intergenic	LINC01375,LOC101926942	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7074457	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	COSMIC,ICGC,
chr4	66594931	66594931	T	G	intergenic	EPHA5-AS1,LOC101927237	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr19	41333999	41333999	G	C	intergenic	RAB4B-EGLN2,CYP2A6	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9357630	-	OV-AU|1|93|0.01075	-	-	-,-	-,Reduced transcriptional activity|Reduced CYP2A6 activity, association with|Reduced CYP2A6 activity|Potential protein deficiency|Poor metaboliser|Lung cancer, reduced risk|Increased activity|Impaired nicotine metabolism|Impaired coumarin metabolism|Cancer of the upper aerodigestive tract, association with|Altered mRNA stability|Altered activity	COSMIC,ICGC,
chr10	73437442	73437442	C	T	exonic	CDH23	nonsynonymous	SNV	-	0.995	1.873e-05	-	rs780571524	3.951e-05	-	-	-	COSM4015584	STAD|1|395|0.00253,STES|1|395|0.00253	STAD-US|1|289|0.00346	-	-	integument phenotype	Usher syndrome 2|Usher syndrome 1d|Usher syndrome 1, modifier of|Usher syndrome 1|Usher syndrome  |Sensorineural hearing loss, nonsyndromic|Retinitis pigmentosa, autosomal recessive ?|Non-syndromic autosomal recessive deafness|Hearing loss, nonsyndromic|Hearing loss, non-syndromic|Deafness, nonsyndromic  |Deafness, non-syndromic |Deafness, autosomal recessive 12 |Deafness  	COSMIC,COSMIC,COSMIC,TCGA,ICGC,
chr10	54292584	54292584	A	G	intergenic	LOC101928687,MBL2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,hematopoietic system phenotype	-,Leprosy, association with|Lung cancer survival, association with|Mannose-binding protein deficiency, association|Placental malaria, susceptibility to, association with|Systemic lupus erythematosus, association with|Tuberculosis, protection against, association with|Type 2 diabetes, association with|Ulcerative colitis, association with.|Vulvovaginal candidiasis, recurrent, association with|Lepromatous leprosy, protection against, association with|Kawasaki disease, association with|Antiphospholipid syndrome, association with|Bacterial infection, increased risk, association with|Colon cancer, association with|Crohn's disease, in children, association with|Dental caries, association with.|HIV-1 infection, increased susceptibility, association with|HIV-1 infection, susceptibility, association|Increased serum MBL level |Infection, in children, association with.	ICGC,
chr7	1526651	1526651	G	A	exonic	INTS1	synonymous	SNV	-	-	1.332e-05	-	rs200150900	3.901e-05	0.000399361	-	-	-	COADREAD|1|489|0.00204,READ|1|122|0.00820	-	-	-	mortality/aging	Schizophrenia  |Potential protein deficiency	TCGA,
chr2	31433356	31433356	-	TAAAATAAAA	intronic	CAPN14	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|2|67|0.02985	-	-	-	-	ICGC,
chr17	68595891	68595891	C	T	intergenic	KCNJ2,CASC17	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538,MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Long QT syndrome|Long QT syndrome.|Periodic paralysis|Short QT syndrome|Short QT syndrome 3|Sudden cardiac death  |Ventricular tachycardia|Catecholaminergic polymorphic ventricular tachycardia.|Atrial fibrillation.|Andersen syndrome|Andersen syndrome & catecholaminergic polymorphic ventricular tachycardia mimickry|Andersen-Tawil syndrome|Andersen-Tawil syndrome, without cardiac involvement|Andersen-Tawil syndrome.|Arrhythmia|Atrial fibrillation,-	ICGC,
chr16	8819189	8819189	C	T	intronic	ABAT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	GABA-transaminase deficiency	ICGC,
chr3	187943649	187943649	G	A	intronic	LPP	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN4815540	-	MALY-DE|1|241|0.00415	-	-	mortality/aging	Tetralogy of Fallot & VACTERL association|Tetralogy of Fallot|Celiac disease, reduced risk	COSMIC,ICGC,
chr12	109972427	109972427	G	A	exonic	UBE3B	nonsynonymous	SNV	0.013	1.0	2.062e-05	6.461e-05	rs745426222	1.693e-05	-	-	-	-	-	GACA-JP|1|585|0.00171	-	-	integument phenotype	Autism|Blepharophimosis-ptosis-intellectual-disability syndrome|Kaufman oculocerebrofacial syndrome	ICGC,
chr15	41355732	41355732	G	A	intronic	INO80	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397,LIAD-FR|1|32|0.03125	-	-	-	Schizophrenia	ICGC,
chr1	59849232	59849232	C	T	intronic	FGGY	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chrX	4739820	4739820	G	A	intergenic	LOC101928201,NLGN4X	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Potential protein deficiency|Mental retardation|Kallmann syndrome and ichthyosis|Intellectual disability, short stature & hydrocephaly|Intellectual disability, Kallmann syndrome & ichthyosis|Intellectual disability, behavioural difficulties, ichthyosis & hypogonadotrophic hypogonadism|Intellectual disability, autism spectrum disorder & short stature|Developmental delay, hypospadias & ichthyosis|Developmental delay, autism spectrum disorder, micropenis & ichthyosis|Developmental delay  |Autism, association with|Autism and mental retardation|Autism 	ICGC,
chr14	106652351	106652351	G	A	intergenic	ADAM6,LINC00226	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr16	22756279	22756279	C	T	ncRNA_intronic	MIR548AA2,MIR548D2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr18	15303161	15303161	G	T	intergenic	LINC01443,LOC644669	unknown	SNV	-	-	-	0.0004	-	-	-	-	-	-	-	PAEN-AU|1|52|0.01923	-	-	-,-	-,-	ICGC,
chr4	178590415	178590415	C	A	intergenic	AGA,LINC01098	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23540383	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,-	Aspartylglucosaminuria,-	COSMIC,ICGC,
chr10	44285120	44285120	C	T	ncRNA_exonic	HNRNPA3P1	unknown	SNV	-	-	2.468e-05	-	rs375359743	2.519e-05	-	-	-	COSN26437508	-	COCA-CN|1|321|0.00312	-	-	-	-	COSMIC,ICGC,
chr8	2261636	2261636	A	T	intergenic	MYOM2,CSMD1	unknown	SNV	-	-	-	-	-	-	-	-	0.014	COSN15514711	-	OV-AU|1|93|0.01075,PBCA-DE|1|499|0.00200	-	-	-,-	-,Schizophrenia, association with |Hyperinsulinism|Autism|Attention deficit hyperactivity disorder 	COSMIC,ICGC,
chr20	51926074	51926074	C	T	intronic	TSHZ2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging	Schizophrenia	ICGC,
chrX	57582615	57582615	C	T	intergenic	FAAH2,ZXDB	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6728219	-	LIRI-JP|1|258|0.00388	-	-	-,-	Intellectual disability, X-linked|Autism spectrum disorder,-	COSMIC,ICGC,
chr12	15901159	15901159	G	A	intronic	EPS8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	behavior/neurological phenotype	Deafness  	ICGC,
chr12	97311945	97311945	-	T	intronic	NEDD1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	-	-	ICGC,
chr4	135428520	135428520	G	A	intergenic	PABPC4L,LINC00613	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	Autism spectrum disorder  ,-	ICGC,
chrX	113689323	113689323	T	C	intergenic	LOC101928437,HTR2C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PAEN-IT|1|37|0.02703	-	-	-,integument phenotype	-,Tourette syndrome, association with|Tardive dyskinesia, association with|Suicide, association with|Reduced promoter activity|Premature ejaculation, association with|Increased promoter activity, association with|Hallucinations, in Alzheimer disease, association|Greater dopamine release|Alcohol use disorder comorbidity, association with|Anxiety, and Appetite disturbances in females, in Alzheimer disease, association with.|Bipolar affective disorder, association with|BMI, association with|Depression, in Alzheimer disease, association with.|Diabetes, association with	ICGC,
chr2	45253668	45253668	A	T	intergenic	SIX2,LINC01121	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Renal hypodysplasia,-	ICGC,
chrX	97959216	97959216	-	AT	intergenic	DIAPH2,XRCC6P5	unknown	insertion	-	-	-	0.0003	rs775620738	-	0.00635762	-	-	-	-	BRCA-EU|2|569|0.00351	-	-	cardiovascular system phenotype,-	Premature ovarian failure,-	ICGC,
chr8	124670763	124670763	G	A	intergenic	KLHL38,ANXA13	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	180924541	180924541	T	C	intergenic	CWC22,SCHLAP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-,-	-,-	ICGC,
chr15	36679643	36679643	C	T	intergenic	MIR4510,C15orf41	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,Congenital dysorythropoietic anaemia type 1	ICGC,
chr2	163840716	163840716	A	G	intergenic	KCNH7,FIGN	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7113349	-	PACA-AU|1|391|0.00256	-	-	-,integument phenotype	-,-	COSMIC,ICGC,
chr1	213405543	213405543	G	T	exonic	RPS6KC1	synonymous	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr8	47637626	47637626	G	A	intergenic	NONE,LINC00293	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|2|100|0.02000,MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr11	47424954	47424954	A	G	intergenic	SPI1,SLC39A13	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,integument phenotype	Acute myeloid leukaemia  |Acute myeloid leukaemia, association with,Ehlers-Danlos syndrome, spondylocheiro dysplastic form	ICGC,
chr4	165253867	165253867	C	T	intronic	MARCH1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype	-	ICGC,
chr1	220486715	220486715	T	C	intergenic	RAB3GAP2,MARK1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Martsolf syndrome|Spastic paraplegia 69|Warburg Micro syndrome,-	ICGC,
chr19	11594397	11594397	C	A	UTR3	ZNF653	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26858773	-	THCA-CN|1|50|0.02000	-	-	-	-	COSMIC,ICGC,
chr3	57232898	57232898	T	-	exonic	HESX1	frameshift	deletion	-	-	8.124e-06	-	rs777833871	8.247e-06	-	-	-	-	-	-	Septo-optic_dysplasia_sequence|Pituitary_hormone_deficiency,_combined_1	-	mortality/aging	Septo-optic dysplasia |Pituitary stalk interruption syndrome|Pituitary hypoplasia|Pituitary hormone deficiency, combined|Pituitary aplasia|Panhypopituitarism|Kallmann syndrome|Isolated growth hormone deficiency|Hypopituitarism with pituitary stalk interruption|Combined pituitary hormone deficiency	ClinVar,
chr7	133090865	133090865	C	T	intronic	EXOC4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Meckel-Gruber syndrome|Cervical artery dissection|Autism spectrum disorder  	ICGC,
chr3	95971168	95971168	-	ATA	intergenic	MTHFD2P1,MIR8060	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-,-	-,-	ICGC,
chr8	143110832	143110832	G	A	intergenic	MROH5,MIR4472-1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr20	43969242	43969252	GGCTGGGGCAC	-	intronic	SDC4	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	mortality/aging	-	ICGC,
chrX	3074882	3074882	C	T	intergenic	ARSF,CXorf28	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Autism spectrum disorder|Potential protein deficiency,-	ICGC,
chrX	117133671	117133687	AAAATAAATAAATAAAT	-	intronic	KLHL13	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	Peripheral neuropathy  	ICGC,
chr5	35699034	35699034	C	A	intronic	SPEF2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	-	ICGC,
chr2	161607461	161607461	-	AGCACA	intergenic	RBMS1,TANK	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	mortality/aging,mortality/aging	-,-	ICGC,
chr10	3499898	3499898	C	T	intergenic	PITRM1,KLF6	unknown	SNV	-	-	-	0.0005	rs201541500	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,integument phenotype	-,Decreased promoter activity|Lung adenocarcinoma, reduced risk, association with.|Nonalcoholic fatty liver disease fibrosis, association with|Prostate cancer |Prostate cancer, risk, association with|Reduced hepatic insulin resistance	ICGC,
chr21	41170910	41170910	C	A	intronic	IGSF5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	normal phenotype	-	ICGC,
chr2	25026072	25026072	C	G	intronic	CENPO	unknown	SNV	-	-	-	0.0019	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr6	69569238	69569238	A	C	intronic	BAI3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22544507	-	BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr7	23484002	23484002	A	G	intronic	IGF2BP3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5099365	-	LINC-JP|1|394|0.00254	-	-	-	-	COSMIC,ICGC,
chr8	35632458	35632458	-	AAAAAAA	intronic	UNC5D	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	-	ICGC,
chr2	168898403	168898403	T	C	intronic	STK39	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16310630	-	LIRI-JP|1|258|0.00388	-	-	reproductive system phenotype	Hypertension, association with	COSMIC,ICGC,
chr4	41242363	41242363	T	C	ncRNA_intronic	UCHL1-AS1	unknown	SNV	-	-	-	0.1490	rs35479319	-	0.144768	-	0.087	-	-	LAML-KR|2|205|0.00976	-	-	-	-	ICGC,
chr6	45256366	45256366	A	T	intronic	SUPT3H	unknown	SNV	-	-	-	0.3121	rs62400313	-	0.141374	-	-	COSN14893227	-	-	-	-	-	46,XY gonadal dysgenesis	COSMIC,
chr6	124752804	124752804	T	C	intronic	NKAIN2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN14631736	-	PACA-AU|1|391|0.00256	-	-	-	Developmental delay and recurrent infection|Various neurological abnormalities	COSMIC,ICGC,
chr2	35730754	35730754	T	A	intergenic	MYADML,LOC100288911	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9371874	-	OV-AU|1|93|0.01075	-	-	-,-	-,-	COSMIC,ICGC,
chr7	45367652	45367652	C	T	intergenic	RAMP3,ADCY1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	growth/size phenotype,integument phenotype	-,-	ICGC,
chr8	142492698	142492698	G	A	intronic	MROH5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr1	94413302	94413302	G	T	intergenic	GCLM,ABCA4	unknown	SNV	-	-	-	-	rs562856364	-	0.0988419	-	0.029	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging,vision/eye phenotype	Myocardial infarction, association with,Retinitis pigmentosa, autosomal dominant|Retinitis pigmentosa, autosomal dominant ?|Retinitis pigmentosa, autosomal recessive|Retinitis pigmentosa, autosomal recessive ?|Retinitis pigmentosa, autosomal recessive.|Retinitis pigmentosa-like dystrophy|Retinitis pigmentosa|Retinal dystrophy |Retinal disease |Retinal degeneration|PRPH2-associated macular dystrophy modifier|Potential protein deficiency|Retinitis pigmentosa, X-linked.|Retinitis pigmentosa?|Usher syndrome|Stargardt disease.|Stargardt disease, reduced risk|Stargardt disease, late-onset|Stargardt disease, association with|Stargardt disease and macular degeneration|Stargardt disease 2/3|Stargardt disease 1|Stargardt disease / cone-rod dystrophy|Stargardt disease|Retinopathy  |Retinitis pigmentosa.|Maculopathy, atypical|Bilateral choroidal neovascularization.|Cone-rod dystrophy with extensive atrophy|Cone-rod dystrophy|Cone-rod degeneration |Cone rod dystrophy|Cone dystrophy, autosomal recessive|Cone dystrophy / cone-rod dystrophy, autosomal recessive|Cone dystrophy|Chorioretinal atrophy|Choriocapillaris dystrophy, generalised|Bull's eye maculopathy.|Bull's eye maculopathy|Cone-rod dystrophy, autosomal recessive|Cone-rod dystrophy?|Cone-rod dystrophy.|Macular dystrophy.|Macular dystrophy, early-onset|Macular dystrophy, concentric annular|Macular dystrophy|Macular degeneration, age-related, reduced risk|Macular degeneration, age-related, association with|Macular degeneration, age related|Leber congenital amaurosis/Retinitis pigmentosa, autosomal recessive ?|Leber congenital amaurosis ?|Leber congenital amaurosis|Fundus flavimaculatus, late onset|Fundus flavimaculatus	ICGC,
chr1	190067781	190067781	C	T	exonic	BRINP3	synonymous	SNV	-	-	4.061e-06	-	-	-	-	-	-	COSM901272	UCEC|1|248|0.00403	UCEC-US|1|250|0.00400	-	-	-	-	COSMIC,TCGA,ICGC,
chr20	60856021	60856021	T	C	intronic	OSBPL2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19730918	-	COCA-CN|1|321|0.00312	-	-	-	-	COSMIC,ICGC,
chr7	17582558	17582558	-	ACACACACAC	ncRNA_intronic	LOC101927630	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	-	-	ICGC,
chrX	541310	541310	G	T	intergenic	PPP2R3B,SHOX	unknown	SNV	-	-	-	0.1960	rs28796040	-	-	-	0.022	-	-	LAML-KR|1|205|0.00488	-	-	-,-	-,Tall stature |Short stature, mental retardation & facial dysmorphisms|Short stature without Madelung deformity|Short stature|Multiple congenital anomalies, skeletal|Mayer-Rokitansky-Küster-Hauser syndrome I|Madelung deformity|Leri-Weill dyschondrosteosis with short stature|Leri-Weill dyschondrosteosis|Langer mesomelic dysplasia|Dyschondrosteosis	ICGC,
chr6	121810712	121810712	T	-	intergenic	GJA1,HSF2	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|2|321|0.00623	-	-	integument phenotype,mortality/aging	Sudden infant death syndrome |Oculodentodigital dysplasia with primary lymphoedema|Oculodentodigital dysplasia|Neurologic dysfunction|Heart malformations|Hallerman-Streiff/ODDD syndrome|Ectodermal & oculodentodigital dysplasia with skin hyperkeratosis|Attenuated phenotype in glaucoma |Cleft lip in oculodentodigital dysplasia.|Craniometaphyseal dysplasia|Deafness|Deafness, autosomal recessive,Idiopathic azoospermia	ICGC,
chrX	12161297	12161297	G	A	intronic	FRMPD4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype	Mental retardation, X-linked	ICGC,
chr2	111892185	111892185	C	T	intronic	BCL2L11	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Tyrosine kinase inhibitor resistance	ICGC,
chr3	57237087	57237087	G	A	intergenic	HESX1,APPL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,hematopoietic system phenotype	Septo-optic dysplasia |Pituitary stalk interruption syndrome|Pituitary hypoplasia|Pituitary hormone deficiency, combined|Pituitary aplasia|Panhypopituitarism|Kallmann syndrome|Isolated growth hormone deficiency|Hypopituitarism with pituitary stalk interruption|Combined pituitary hormone deficiency,-	ICGC,
chr20	5887433	5887433	C	T	intergenic	C20orf196,CHGB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,endocrine/exocrine gland phenotype	-,Schizophrenia, association with |Reduced transcriptional activity|Not risk factor for amyotrophic lateral sclerosis in French population|Amyotrophic lateral sclerosis, association with	ICGC,
chr1	111428147	111428147	G	A	intronic	CD53	unknown	SNV	-	-	-	0	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr5	126102660	126102660	G	A	intergenic	TEX43,LMNB1	unknown	SNV	-	-	-	0.0002	rs148657557	-	0.000798722	-	-	COSN17250490	-	PACA-CA|1|268|0.00373	-	-	-,integument phenotype	-,Leukodystrophy|Leukoencephalopathy  |Neural tube defects|Potential protein deficiency	COSMIC,ICGC,
chr15	82034310	82034310	T	C	intergenic	LOC101929655,MEX3B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr5	138897172	138897172	C	T	intergenic	TMEM173,UBE2D2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,reproductive system phenotype	Defective IFNbeta stimulation,-	ICGC,
chr8	117148355	117148356	TA	-	ncRNA_intronic	LINC00536	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chrX	42934688	42934688	A	G	intergenic	PPP1R2P9,LOC101927501	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25706652	-	EOPC-DE|1|202|0.00495	-	-	-,-	-,-	COSMIC,ICGC,
chr17	46128617	46128617	C	G	exonic	NFE2L1	nonsynonymous	SNV	0.006	0.775	-	-	-	-	-	-	-	COSM4067317	STAD|1|395|0.00253,STES|1|395|0.00253	STAD-US|1|289|0.00346	-	-	integument phenotype	-	COSMIC,TCGA,ICGC,
chr11	127525394	127525394	A	G	intergenic	LOC101929497,ETS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,mortality/aging	-,Systemic lupus erythematosus, association with	ICGC,
chr11	101007292	101007292	T	-	ncRNA_intronic	LOC101054525	unknown	deletion	-	-	-	0.0183	rs376808131	-	0.01877	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-	-	ICGC,
chr2	125909716	125909716	G	C	intergenic	CNTNAP5,GYPC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	Autism,Glycophorin C variant|Gerbich-negative blood group|Elliptocytosis|Duch blood group	ICGC,
chr17	74875406	74875406	C	A	intronic	MGAT5B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	homeostasis/metabolism phenotype	-	ICGC,
chr13	107390612	107390612	G	A	intergenic	LINC00443,FAM155A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr18	44157824	44157824	C	T	exonic	LOXHD1	nonsynonymous	SNV	0.121	1.0	1.99e-05	9.693e-05	-	-	-	-	-	COSM396990	-	-	-	-	behavior/neurological phenotype	Sensorineural hearing loss, nonsyndromic  |Progressive hearing loss, nonsyndromic|Hearing loss, non-syndromic, autosomal recessive|Fuchs corneal dystrophy, late-onset 	COSMIC,COSMIC,
chr14	28011897	28011897	G	T	intergenic	LOC101927081,LINC00645	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	78858630	78858630	C	T	intronic	ROBO1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	mortality/aging	Developmental dyslexia 	ICGC,
chr14	81477122	81477122	G	A	intronic	TSHR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Hypothyroidism, association with|Hypothyroidism.|Insulin resistance, association with|Subclinical hypothyroidism|Thyroid hyperplasia|Thyroid hypoplasia|Thyroid hypoplasia.|Thyroid-stimulating hormone resistance|Thyroid-stimulating hormone resistance, nonclassic|Thyrotoxicosis|Toxic multinodular goitre, association with|Hypothyroidism|Hyperthyrotropinemia|Hyperthyrotropinaemia, nonautoimmune isolated |Athyreosis.|Graves' ophthalmopathy|Graves’ disease and Hashimoto’s disease, association with.|Hyperfunctioning thyroid nodules|Hyperthyroidism|Hyperthyroidism, autoimmune, association with |Hyperthyroidism, gestational|Hyperthyroidism, nonautoimmune|Hyperthyroidism, nongoitrous & nonautoimmune|Hyperthyrotropinaemia  |Hyperthyrotropinaemia, in infants, association with.	ICGC,
chr2	206455479	206455479	G	T	intronic	PARD3B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1820095	-	LIRI-JP|1|258|0.00388	-	-	-	AIDS progression, protection, association with	COSMIC,ICGC,
chr20	38795216	38795216	-	T	intergenic	LINC01370,MAFB	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|2|71|0.02817	-	-	-,mortality/aging	-,Multicentric carpotarsal osteolysis|Intellectual and developmental disabilities|Cleft lip  	ICGC,
chr14	53261790	53261790	A	T	intergenic	GNPNAT1,FERMT2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	mortality/aging,mortality/aging	-,-	ICGC,
chrX	43818212	43818212	T	C	intronic	NDP	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	vision/eye phenotype	Retinopathy of prematurity|Persistent fetal vasculature|Norrie disease.|Norrie disease, psychomotor retardation + epilepsy|Norrie disease|Exudative vitreoretinopathy|Developmental delay, deafness & visual impairment|Deafness  |Bilateral persistant fetal vasculature	ICGC,
chr16	49669814	49669814	G	A	exonic	ZNF423	synonymous	SNV	-	-	3.245e-05	-	rs142674394	2.909e-05	-	7.7e-05	-	COSM4425957	-	-	-	-	mortality/aging	Hypoplastic left heart syndrome|Nephronophthisis-related ciliopathy	COSMIC,COSMIC,
chr3	111570525	111570525	T	C	intronic	PHLDB2	unknown	SNV	-	-	-	0.1486	rs17490346	-	0.128994	-	0.058	-	-	LAML-KR|1|205|0.00488	-	-	-	-	ICGC,
chr9	29919887	29919887	C	A	intergenic	LINGO2,LINC01242	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2320513	-	LIRI-JP|1|258|0.00388	-	-	-,-	Autism spectrum disorder  |Developmental delay with absent speech,-	COSMIC,COSMIC,ICGC,
chr18	52535850	52535850	-	GGTTGT	intronic	RAB27B	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	integument phenotype	-	ICGC,
chr7	54805193	54805193	A	G	intergenic	VSTM2A-OT1,SEC61G	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr3	34415787	34415787	G	A	intergenic	PDCD6IP,LOC101928135	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,-	Hepatocellular carcinoma, increased risk, association with,-	ICGC,
chr11	106072446	106072446	A	C	intergenic	AASDHPPT,LOC101928535	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr2	66539368	66539368	G	A	intergenic	SPRED2,MIR4778	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype,-	Childhood apraxia of speech,-	ICGC,
chr12	106812000	106812000	A	G	intronic	POLR3B	unknown	SNV	-	-	-	-	rs557268080	-	0.000199681	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	Hypomyelinating leukodystrophy|Hypomyelination, cerebellar atrophy & corpus callosum hypoplasia|Intellectual disability  	ICGC,
chr2	115366437	115366437	G	T	intronic	DPP10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	-	Autism spectrum disorder	ICGC,
chr17	22258444	22258444	A	G	intergenic	MTRNR2L1,NONE	unknown	SNV	-	-	-	-	rs797035498	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr16	57214511	57214511	G	A	intronic	FAM192A	unknown	SNV	-	-	-	0.0023	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-	-	ICGC,
chr8	117054449	117054449	A	G	ncRNA_intronic	LINC00536	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16315489	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr5	77601479	77601479	A	T	intergenic	AP3B1,SCAMP1-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20774156	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	integument phenotype,-	Potential protein deficiency|Hermansky-Pudlak syndrome type 2|Hermansky-Pudlak syndrome,-	COSMIC,COSMIC,ICGC,
chr1	176568797	176568797	A	C	intronic	PAPPA2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16855757	-	PACA-CA|1|268|0.00373	-	-	hematopoietic system phenotype	-	COSMIC,ICGC,
chr2	142768403	142768403	G	A	intronic	LRP1B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	mortality/aging	Schizophrenia   	ICGC,
chr7	141490993	141490993	A	G	exonic	TAS2R5	nonsynonymous	SNV	0.001	0.259	-	-	-	-	-	-	-	COSM3878797	-	STAD-US|1|289|0.00346	-	-	-	-	COSMIC,ICGC,
chr2	47596483	47596483	T	A	UTR5	EPCAM	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	-	Lynch_syndrome	-	mortality/aging	Breast cancer, increased risk, association with  |Cervical cancer, increased risk|Colorectal cancer, non-polyposis|Congenital tufting enteropathy	ClinVar,
chr7	25621182	25621182	T	C	intergenic	NPVF,RNU6-16P	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9983619	-	OV-AU|1|93|0.01075	-	-	-,-	-,-	COSMIC,ICGC,
chr7	3785796	3785796	C	A	intronic	SDK1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	-	ICGC,
chr16	20712895	20712895	A	C	intergenic	ACSM1,THUMPD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	ICGC,
chr1	209423142	209423142	C	T	intergenic	PLXNA2,MIR205HG	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	vision/eye phenotype,-	Tetralogy of Fallot,-	ICGC,
chr16	89927237	89927237	C	G	intronic	SPIRE2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-	-	ICGC,
chrX	12920735	12920735	A	G	downstream	TLR8-AS1	unknown	SNV	-	-	-	0.3553	rs5978593	-	0.274702	-	0.261	-	-	LAML-KR|1|205|0.00488	-	-	-	-	ICGC,
chr11	94501610	94501610	G	A	UTR5	AMOTL1	unknown	SNV	-	-	0.1540	0.1437	rs17608451	0.1658	0.0778754	0.1658	0.167	-	-	LUSC-KR|3|170|0.01765	-	-	cellular phenotype	-	ICGC,
chr9	123832662	123832677	GATATATATATATATA	-	intergenic	C5,CNTRL	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	skeleton phenotype,-	Poor eculizumab response|Macular degeneration, age-related, association with|Ischemic stroke, association with |Complement C5 deficiency,-	ICGC,
chr2	199786716	199786716	G	A	intergenic	LOC101927619,SATB2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Toriello-Carey syndrome|Pierre Robin sequence  |Intellectual disability, nonsyndromic|Dentofacial abnormalities|Cleft palate, osteoporosis and cognitive defects|Cleft palate|Autism spectrum disorder	ICGC,
chr1	181601419	181601419	C	T	intronic	CACNA1E	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	Autism|Diabetes, type 2, association with	ICGC,
chr8	56028291	56028291	G	A	intronic	XKR4	unknown	SNV	-	-	-	6.466e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Glaucoma, primary congenital	ICGC,
chr12	12753069	12753069	C	T	intergenic	DUSP16,CREBL2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr15	83461494	83461494	C	T	intronic	FSD2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr9	5719162	5719162	G	C	intronic	KIAA1432	unknown	SNV	-	-	-	0.3674	rs10975259	-	0.402756	-	0.391	-	-	ESAD-UK|1|301|0.00332	-	-	hematopoietic system phenotype	Autism	ICGC,
chr16	83245575	83245575	C	A	intronic	CDH13	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	mortality/aging	Higher adiponectin levels|Amyotrophic lateral sclerosis 	ICGC,
chr14	99642546	99642546	C	T	intronic	BCL11B	unknown	SNV	-	-	0	-	rs376169292	9.501e-06	-	7.7e-05	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	-	ICGC,
chr11	17697504	17697504	G	A	intergenic	OTOG,MYOD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	reproductive system phenotype,mortality/aging	Hearing impairment, nonsyndromic,-	ICGC,
chr8	48509317	48509317	C	T	intronic	SPIDR	unknown	SNV	-	-	-	3.235e-05	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr2	107845208	107845208	C	A	intergenic	ST6GAL2,RGPD4-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr9	129254181	129254181	G	C	intronic	MVB12B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9277778	-	RECA-EU|1|422|0.00237	-	-	-	-	COSMIC,ICGC,
chr13	44027795	44027795	T	A	ncRNA_intronic	ENOX1-AS2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr7	129273925	129273925	-	ACACACAC	intronic	NRF1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|2|67|0.02985	-	-	mortality/aging	-	ICGC,
chr1	156315054	156315054	T	C	intronic	TSACC	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25637418	-	MALY-DE|1|241|0.00415	-	-	-	-	COSMIC,ICGC,
chr11	16883451	16883451	A	G	intronic	PLEKHA7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-	-	ICGC,
chr6	84558949	84558949	C	A	intergenic	SNAP91,RIPPLY2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1337678	-	-	-	-	-,mortality/aging	-,-	COSMIC,
chr17	79026928	79026928	G	A	intronic	BAIAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	mortality/aging	Schizophrenia  	ICGC,
chr6	107392058	107392058	G	T	exonic	BEND3	nonsynonymous	SNV	1.0	0.0	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr2	84973973	84973973	G	A	intronic	DNAH6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr5	107010472	107010472	A	G	intergenic	EFNA5,FBXL17	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17874641	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	-,-	COSMIC,ICGC,
chr2	175282811	175282811	G	A	intronic	SCRN3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Potential protein deficiency	ICGC,
chr2	148120802	148120802	G	A	intergenic	PABPC1P2,ACVR2A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,-	ICGC,
chr11	11134436	11134436	G	A	intergenic	ZBED5-AS1,GALNT18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	ICGC,
chr9	913098	913098	C	G	intronic	DMRT1	unknown	SNV	-	-	-	0.0003	rs576919028	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	reproductive system phenotype	46,XY disorder of sex development |46,XY ovotesticular disorder of sexual development|Azoospermia  |XY gonadal dysgenesis|XY sex reversal 	ICGC,
chr2	144153582	144153582	G	A	intronic	ARHGAP15	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype	-	ICGC,
chr11	131497726	131497726	A	C	intronic	NTM	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1519880	-	LIRI-JP|1|258|0.00388	-	-	-	Aortic aneurysm, thoracic & intracranial|Potential protein deficiency	COSMIC,ICGC,
chr8	135127850	135127850	A	T	intergenic	ST3GAL1,ZFAT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	hematopoietic system phenotype,mortality/aging	-,Autoimmune thyroid disease, association with	ICGC,
chr4	45011133	45011133	A	G	intergenic	GNPDA2,GABRG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr1	86663950	86663950	A	-	intergenic	COL24A1,ODF2L	unknown	deletion	-	-	-	0.0004	rs372961008	-	-	-	-	-	-	ESAD-UK|1|301|0.00332,PACA-CA|1|268|0.00373	-	-	-,-	-,-	ICGC,
chr16	69938193	69938193	G	C	intronic	WWP2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN14560273	-	PACA-AU|1|391|0.00256	-	-	-	-	COSMIC,COSMIC,COSMIC,COSMIC,COSMIC,ICGC,
chr8	110026695	110026695	T	C	intergenic	TMEM74,TRHR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,reproductive system phenotype	-,Essential hypertension, association with|Isolated central hypothyroidism|Schizophrenia	ICGC,
chr3	76252883	76252883	A	C	intergenic	ZNF717,ROBO2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22334650	-	BRCA-EU|1|569|0.00176	-	-	-,mortality/aging	Potential protein deficiency,Autism spectrum disorder  |Urinary tract anomalies|Vesicoureteral reflux	COSMIC,ICGC,
chr14	51958683	51958683	C	T	ncRNA_intronic	FRMD6-AS2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chrX	11665194	11665194	C	G	intronic	ARHGAP6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-FR|1|72|0.01389	-	-	mortality/aging	Microphthalamia with linear skin defects	ICGC,
chr6	55278988	55278988	C	T	intergenic	GFRAL,HMGCLL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr3	162026074	162026074	C	A	intergenic	OTOL1,LINC01192	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21063715	-	BRCA-UK|1|141|0.00709,BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr1	195764668	195764668	G	A	intergenic	NONE,KCNT2	unknown	SNV	-	-	-	-	rs560133958	-	0.000199681	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	89558488	89558488	A	C	intergenic	EPHA3,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24884439	-	PBCA-DE|1|499|0.00200	-	-	mortality/aging,-	Oligozoospermia|Schizophrenia    |Sertoli-cell-only syndrome,-	COSMIC,ICGC,
chr3	172764314	172764314	A	-	intronic	SPATA16	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-	Globozoospermia	ICGC,
chr7	149730734	149730734	A	G	intergenic	ATP6V0E2,ACTR3C	unknown	SNV	-	-	-	0.2745	rs117191732	-	-	-	0.014	COSN20373998	-	COCA-CN|1|321|0.00312	-	-	-,-	-,Autism spectrum disorder	COSMIC,ICGC,
chr12	41536324	41536324	G	A	intergenic	CNTN1,PDZRN4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging,-	Myopathy, lethal congenital|Pancreatic cancer ,-	ICGC,
chr5	45785651	45785651	C	T	intergenic	HCN1,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Idiopathic epilepsy, generalised ,-	ICGC,
chr1	4471568	4471568	A	C	upstream	LOC284661	unknown	SNV	-	-	-	6.459e-05	rs752382849	-	-	-	-	COSN25127180	-	ESAD-UK|1|301|0.00332,MALY-DE|1|241|0.00415	-	-	-	-	COSMIC,ICGC,
chr12	13219716	13219716	G	T	exonic	KIAA1467	nonsynonymous	SNV	0.101	1.0	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr2	229318887	229318887	T	C	intergenic	SPHKAP,PID1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,Anorectal malformation	ICGC,
chr2	83410783	83410783	G	A	intergenic	LOC1720,FUNDC2P2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr18	28923266	28923266	C	T	intronic	DSG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Striate palmoplantar keratoderma|SAM syndrome|Pemphigus foliaceus, association with|Focal palmoplantar keratoderma	ICGC,
chr12	61151726	61151726	C	T	intergenic	SLC16A7,FAM19A2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Autism spectrum disorder,-	ICGC,
chr1	30256204	30256204	A	C	intergenic	LOC101928460,LOC101929406	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr16	1130171	1130171	-	A	UTR3	SSTR5	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN15626541	-	-	-	-	endocrine/exocrine gland phenotype	Somatostatin analog resistance|Schizophrenia |Pancreatic cancer, association with|Increased cellular proliferation and PDX-1 overexpression|Bipolar affective disorder, association with|Altered circulating IGFI and IGFBP3 levels, association with	COSMIC,
chr7	44014231	44014231	C	T	ncRNA_intronic	POLR2J4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr8	53140114	53140114	C	A	intronic	ST18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	homeostasis/metabolism phenotype	-	ICGC,
chr12	130348395	130348395	G	A	intronic	TMEM132D	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-	Panic disorder  	ICGC,
chr2	139673302	139673302	G	A	intergenic	YY1P2,LRP1B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Schizophrenia   	ICGC,
chr9	86113623	86113623	C	T	intronic	FRMD3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-	-	ICGC,
chr15	36994541	36994541	T	G	intronic	C15orf41	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	Congenital dysorythropoietic anaemia type 1	ICGC,
chr6	152066610	152066610	T	C	intronic	ESR1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype	Osteoporosis|Oestrogen resistance|Lower femoral neck BMD, association with|Left ventricular hypertrophy, association with |Ischaemic stroke, association with.|Osteoporosis, association with|Plasma lipid levels, association with|Precocious puberty|Prostate cancer, association with|Reduced plasma B-type natriuretic peptide levels, association|Reduced spermatogenesis in infertile men, association|Systemic lupus erythematosus, risk, association with |Thyroid cancer, tumour status, association with|Infertility, male, association with|Increased HDL cholesterol, association with|Altered endothelial fibrinolytic regulation|Altered gene expression|Altered splicing |Altered transcriptional regulation |Alzheimer disease in women, increased risk|Breast cancer  |Breast cancer in women of 50 years or younger, association with|Breast cancer, association with |Castration-resistant prostate cancer, association|Cleft lip and palate |Endometrial cancer risk, association with|Hepatitis  B virus-related liver cirrhosis, association with|Increased HDL cholesterol after HRT, association with	ICGC,
chr1	92698766	92698766	C	T	intronic	C1orf146	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr16	61620138	61620143	ACACAA	-	intergenic	LOC729159,CDH8	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,integument phenotype	-,Learning disability  |Autism & learning disability 	ICGC,
chr15	44486977	44486977	G	T	intronic	FRMD5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr10	54074833	54074833	T	A	exonic	DKK1	nonsynonymous	SNV	0.209	0.272	-	-	-	-	-	-	-	-	-	GACA-JP|1|585|0.00171	-	-	mortality/aging	High bone mass trait	ICGC,
chrX	89954654	89954654	C	T	intergenic	TGIF2LX,PABPC5-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	ICGC,
chr6	99685781	99685781	C	A	intergenic	FBXL4,FAXC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	Mitochondrial encephalopathy, early-onset,-	ICGC,
chr21	26474437	26474437	G	A	intergenic	LOC339622,LINC00158	unknown	SNV	-	-	-	3.234e-05	rs568999280	-	0.000199681	-	0.007	COSN16049151	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	COSMIC,ICGC,
chr1	150567375	150567375	G	A	intergenic	MCL1,ENSA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype,-	Chronic lymphocytic leukaemia, progression|Lung cancer, lower risk, association with,Reduced insulin secretion, association with	ICGC,
chr15	96394641	96394641	A	G	intergenic	LINC00924,NR2F2-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26362188	-	PRAD-UK|1|140|0.00714	-	-	-,-	-,-	COSMIC,ICGC,
chr14	104145760	104145760	C	T	exonic	KLC1	nonsynonymous	SNV	0.002	1.0	-	-	-	-	-	-	-	COSM1368438	COAD|1|367|0.00272,COADREAD|1|489|0.00204	COAD-US|1|254|0.00394	-	-	other phenotype	-	COSMIC,COSMIC,COSMIC,COSMIC,TCGA,ICGC,
chr11	99996044	99996044	C	T	intronic	CNTN5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	-	ICGC,
chr1	247245141	247245141	A	G	intergenic	ZNF670-ZNF695,ZNF669	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	ICGC,
chr4	67262026	67262026	C	T	intergenic	EPHA5-AS1,LOC101927237	unknown	SNV	-	-	-	0	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr6	117175377	117175377	C	T	intergenic	GPRC6A,RFX6	unknown	SNV	-	-	-	0.0001	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype,mortality/aging	Potential protein deficiency|Prostate cancer, reduced risk, association with,Diabetes, neonatal, with intestinal atresia|Prostate cancer, susceptibility to 	ICGC,
chr3	168677851	168677851	G	A	intergenic	LOC100507661,MECOM	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,Decreased expression|Thrombocytopaenia with aplastic anaemia	ICGC,
chr18	3754046	3754046	G	A	intronic	DLGAP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Schizophrenia  	ICGC,
chr12	126136973	126136973	C	A	intronic	TMEM132B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-	-	ICGC,
chr16	28620116	28620116	T	A	exonic	SULT1A1	nonsynonymous	SNV	0.708	0.043	-	-	-	-	-	-	-	COSM6308980	-	LICA-CN|1|402|0.00249	-	-	-	Breast cancer, in women, association with.|Breast cancer, increased risk in Asians, association with|Decreased urothelial cancer risk|Environment-related cancers, susceptibility to, association with.|Increased activity|Lung cancer, reduced risk, association with|Oral cancer, association with|Reduced activity|Reduced PST activity	COSMIC,ICGC,
chr14	64635651	64635651	G	T	exonic	SYNE2	nonsynonymous	SNV	0.007	0.371	-	-	-	-	-	-	-	-	-	OV-US|1|118|0.00847	-	-	integument phenotype	Muscular dystrophy, Emery-Dreifuss|Increased spine bone mineral density in men, association	ICGC,
chr17	66753384	66753384	G	C	intergenic	LOC101928104,ABCA8	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6110274	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,Potential protein deficiency|Low HDL cholesterol	COSMIC,ICGC,
chr9	18795536	18795536	C	T	intronic	ADAMTSL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr3	147041514	147041514	C	A	intergenic	PLSCR5,ZIC4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16650686	-	PACA-CA|1|268|0.00373	-	-	-,mortality/aging	-,-	COSMIC,COSMIC,ICGC,
chr15	34122113	34122113	G	C	intronic	RYR3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	behavior/neurological phenotype	Schizophrenia|Hyperinsulinism|Breast cancer, increased risk, association with  	ICGC,
chrX	125849079	125849079	T	C	intergenic	DCAF12L1,PRR32	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr2	182982420	182982421	GT	-	UTR3	PPP1R1C	unknown	deletion	-	-	-	0.0003	-	-	-	-	-	-	-	PEME-CA|1|112|0.00893	-	-	-	-	ICGC,
chr2	50359870	50359870	C	A	intronic	NRXN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Hypotonia|Hypotonia & encephalopathy|Increased white matter volume, association with|Intellectual disability  |Intellectual disability & attention deficit hyperactivity disorder|Intellectual disability & hearing loss|Intellectual disability & pervasive developmental disorder|Intellectual disability and autism|Intellectual disability, nonsyndromic |Intellectual disability, seizures, dysmorphisms & language delay|Growth retardation  |Epilepsy, myoclonic seizures & speech delay|Developmental disorder|Developmental disorder & attention deficit hyperactivity disorder|Developmental disorder, seizures & attention deficit hyperactivity disorder|Developmental/intellectual disability, hypotonia & dysmorphic features|Disorder of muscle, ligament & fascia|Encephalopathy  |Epilepsy  |Epilepsy with cognitive impairment / autism spectrum disorder|Epilepsy with focal seizures|Epilepsy, generalised |Intellectual disability, seizures, language delay & hypotonia|Language delay|Learning difficulties|Respiratory distress & sepsis|Respiratory distress syndrome|Schizophrenia |Schizophrenia, childhood onset |Schizophrenia, disorganised type|Seizures, generalized tonic-clonic & attention deficit hyperactivity disorder|Sensory integration disorder & attention deficit hyperactivity disorder|Speech delay & social communication difficulties|Tourette syndrome|Pervasive developmental disorder / hypotonia|Pervasive developmental disorder|Pervasive developmental delay / mental retardation, lack of coordination & hearing loss|Learning difficulties, ADHD & autism|Mental retardation|Mental retardation, autism, vertebral malformations|Mental retardation, Pitt-Hopkins-like|Microcephaly & mental retardation|Multiple congenital anomalies  |Multiple disabilities|Myoclonic epilepsy   |Neurodevelopmental disorder  |Vertebral anomalies|Developmental delay, speech delay & social communication difficulties|Attention deficit hyperactivity disorder |Autism spectrum disorder, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability & language delay|Autism spectrum disorder, intellectual disability, dysmorphisms, developmental delay & language delay|Autism spectrum disorder, intellectual disability, seizures & developmental delay|Autism spectrum disorder, intellectual disability, seizures, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability, seizures, dysmorphisms & language delay|Autism spectrum disorder, seizures, developmental delay & language delay|Autism, intellectual disability & attention deficit hyperactivity disorder|Autistic disorder|Autism spectrum disorder with developmental & speech delay|Autism spectrum disorder & seizures|Autism spectrum disorder & language delay|Autism |Autism & learning difficulties|Autism & mental retardation|Autism & seizures|Autism spectrum disorder|Autism spectrum disorder & attention deficit hyperactivity disorder|Autism spectrum disorder & developmental delay|Autism spectrum disorder & dysmorphic features|Autism spectrum disorder & intellectual disability|Behavioural problems|Congenital heart defect  |Craniofacial dysmorphism|Developmental delay & speech/motor delay|Developmental delay with early-onset epilepsy|Developmental delay, dysmorphic features & short stature|Developmental delay, epilepsy, autism|Developmental delay, language delay & hypotonia|Developmental delay, learning difficulties, ADHD|Developmental delay, microcephaly & behavioural problems|Developmental delay, pulmonic stenosis & autism spectrum disorder|Developmental delay, short stature and diaphragmatic hernia|Developmental delay, speech delay & microcephaly|Developmental delay & seizures|Developmental delay & seizure disorder|Cystic hygroma, hydrops & micrognathia|Cystic hygroma, shortened upper limbs & fetal demise|Developmental & speech delay|Developmental delay|Developmental delay / autism|Developmental delay & autism|Developmental delay & dysmorphic features|Developmental delay & epilepsy|Developmental delay & hypotonia|Developmental delay & multiple congenital anomalies	ICGC,
chr6	136010336	136010336	G	A	ncRNA_intronic	LINC00271	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr7	31928788	31928788	G	A	intronic	PDE1C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	taste/olfaction phenotype	Developmental delay  	ICGC,
chr6	61989486	61989486	T	A	intergenic	NONE,MTRNR2L9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	ICGC,
chr6	156256718	156256718	G	A	intergenic	NOX3,ARID1B	unknown	SNV	-	-	-	3.23e-05	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	behavior/neurological phenotype,-	-,Schizophrenia|Nicolaides-Baraitser syndrome|Intellectual disability, plantar fat pads & facial dysmorphism|Intellectual disability, corpus callosum abnormalities, speech impairment & autism|Intellectual disability & speech impairment|Intellectual disability & agenesis of corpus callossum|Intellectual disability  |Developmental delay, dysmorphic features, dysgenesis of the corpus callosum, limb anomalies & genital hypoplasia|Coffin-Siris syndrome|Autism?|Autism spectrum disorder|Autism	ICGC,
chr3	21609044	21609044	C	T	ncRNA_intronic	ZNF385D-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|2|100|0.02000,MELA-AU|2|183|0.01093	-	-	-	-	ICGC,
chr2	7748126	7748126	C	T	intergenic	LOC100506274,LOC101929551	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr13	108531401	108531401	G	A	intergenic	FAM155A,LIG4	unknown	SNV	-	-	-	0.1482	rs61967489	-	0.173323	-	0.167	-	-	LAML-KR|1|205|0.00488	-	-	-,mortality/aging	-,Reduced risk of multiple myeloma, association|Radiation pneumonitis, association with|Potential protein deficiency|ncreased genotoxicity, in lead exposure, association with.|Lung cancer, increased risk, association with |LIG4 syndrome|LIG4 deficiency with dysmaturity, primordial dwarfism and neurological abnormalities|Immunodeficiency, severe combined, atypical|Immunodeficiency, severe combined|Glioma, increased risk, association with|Dubowitz syndrome	ICGC,
chr19	30904317	30904317	G	A	intronic	ZNF536	unknown	SNV	-	-	-	3.234e-05	-	-	-	-	-	COSN26336884	-	PRAD-UK|1|140|0.00714	-	-	-	Schizophrenia	COSMIC,ICGC,
chr8	54005629	54005629	G	A	intergenic	NPBWR1,OPRK1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,integument phenotype	Altered receptor function,Alcohol dependence, association with|Opiate addiction, association with 	ICGC,
chr16	11925309	11925309	G	A	intergenic	BCAR4,RSL1D1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr12	103798964	103798964	G	A	intronic	C12orf42	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17370649	-	ESAD-UK|1|301|0.00332	-	-	-	-	COSMIC,ICGC,
chrX	12079468	12079468	C	T	intergenic	MSL3,FRMPD4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,integument phenotype	-,Mental retardation, X-linked	ICGC,
chr2	79823872	79823872	G	A	intronic	CTNNA2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	mortality/aging	Schizophrenia	ICGC,
chr10	20770640	20770640	T	G	intergenic	PLXDC2,MIR4675	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	nervous system phenotype,-	Pancreatic cancer ,-	ICGC,
chr16	8246683	8246683	G	A	intergenic	RBFOX1,TMEM114	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,-	Muscular and feet abnormalities|Mental retardation|Epilepsy, rolandic  |Epilepsy|Developmental delay, facial dysmorphism  |Developmental delay and transposition of the great arteries|Developmental delay and diplegia|Developmental delay and craniosynostosis|Developmental delay  |Cardiac defects|Cardiac abnormalities, micrognathia and scoliosis|Autism spectrum disorder|Autism|Attention deficit hyperactivity disorder ,Developmental delay|Cataract, congenital	ICGC,
chr9	106387353	106387353	A	T	intergenic	LOC101928496,LOC101928523	unknown	SNV	-	-	-	0.0045	rs181330162	-	0.00139776	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr11	28938747	28938747	A	G	intergenic	MIR8068,KCNA4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,behavior/neurological phenotype	-,-	ICGC,
chr3	68630915	68630915	C	T	intergenic	FAM19A1,FAM19A4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr6	63244558	63244558	C	G	intergenic	KHDRBS2,LGSN	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9800914	-	OV-AU|1|93|0.01075	-	-	-,-	-,-	COSMIC,ICGC,
chr5	125409286	125409286	C	T	intergenic	LOC101927460,LOC102546228	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr21	45123273	45123273	T	C	intergenic	RRP1B,PDXK	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,mortality/aging	Breast cancer progression, association with,Altered enzyme activity	ICGC,
chrX	72843743	72843743	A	G	intronic	CHIC1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5470322	-	LIRI-JP|1|258|0.00388	-	-	normal phenotype	-	COSMIC,ICGC,
chr18	1966272	1966272	G	A	intergenic	LINC00470,METTL4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	106887609	106887609	A	T	intronic	EFNA5	unknown	SNV	-	-	-	0.0217	rs182397753	-	0.0113818	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	-	ICGC,
chr21	26885277	26885277	G	A	intergenic	LINC00158,MIR155HG	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	59910030	59910030	G	A	intergenic	LOC101927285,MIR4432	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	82473078	82473078	A	T	intergenic	LOC100507201,LOC1720	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr16	81058713	81058713	C	T	intronic	CENPN	unknown	SNV	-	-	-	6.475e-05	rs765897403	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-	-	ICGC,
chr5	158681665	158681665	T	C	intergenic	RNF145,UBLCP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-,-	-,-	ICGC,
chr6	102358405	102358405	-	G	intronic	GRIK2	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN14743920	-	-	-	-	behavior/neurological phenotype	Mental retardation, non-syndromic, autosomal recessive	COSMIC,
chr4	688804	688804	G	A	intergenic	MFSD7,PCGF3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,hematopoietic system phenotype	-,-	ICGC,
chr14	40133821	40133821	T	G	intergenic	FBXO33,LOC644919	unknown	SNV	-	-	-	0.2840	rs7148846	-	0.335663	-	0.319	-	-	LAML-KR|2|205|0.00976	-	-	-,-	-,-	ICGC,
chr12	15056015	15056015	-	TACACA	intergenic	MGP,ERP27	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	mortality/aging,-	Plaque calcification, increased risk, association with |Natural tooth loss, association with|Kidney stones, reduced risk|Keutel syndrome|Elevated serum MGP,-	ICGC,
chr2	50976172	50976172	G	A	intronic	NRXN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Hypotonia|Hypotonia & encephalopathy|Increased white matter volume, association with|Intellectual disability  |Intellectual disability & attention deficit hyperactivity disorder|Intellectual disability & hearing loss|Intellectual disability & pervasive developmental disorder|Intellectual disability and autism|Intellectual disability, nonsyndromic |Intellectual disability, seizures, dysmorphisms & language delay|Growth retardation  |Epilepsy, myoclonic seizures & speech delay|Developmental disorder|Developmental disorder & attention deficit hyperactivity disorder|Developmental disorder, seizures & attention deficit hyperactivity disorder|Developmental/intellectual disability, hypotonia & dysmorphic features|Disorder of muscle, ligament & fascia|Encephalopathy  |Epilepsy  |Epilepsy with cognitive impairment / autism spectrum disorder|Epilepsy with focal seizures|Epilepsy, generalised |Intellectual disability, seizures, language delay & hypotonia|Language delay|Learning difficulties|Respiratory distress & sepsis|Respiratory distress syndrome|Schizophrenia |Schizophrenia, childhood onset |Schizophrenia, disorganised type|Seizures, generalized tonic-clonic & attention deficit hyperactivity disorder|Sensory integration disorder & attention deficit hyperactivity disorder|Speech delay & social communication difficulties|Tourette syndrome|Pervasive developmental disorder / hypotonia|Pervasive developmental disorder|Pervasive developmental delay / mental retardation, lack of coordination & hearing loss|Learning difficulties, ADHD & autism|Mental retardation|Mental retardation, autism, vertebral malformations|Mental retardation, Pitt-Hopkins-like|Microcephaly & mental retardation|Multiple congenital anomalies  |Multiple disabilities|Myoclonic epilepsy   |Neurodevelopmental disorder  |Vertebral anomalies|Developmental delay, speech delay & social communication difficulties|Attention deficit hyperactivity disorder |Autism spectrum disorder, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability & language delay|Autism spectrum disorder, intellectual disability, dysmorphisms, developmental delay & language delay|Autism spectrum disorder, intellectual disability, seizures & developmental delay|Autism spectrum disorder, intellectual disability, seizures, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability, seizures, dysmorphisms & language delay|Autism spectrum disorder, seizures, developmental delay & language delay|Autism, intellectual disability & attention deficit hyperactivity disorder|Autistic disorder|Autism spectrum disorder with developmental & speech delay|Autism spectrum disorder & seizures|Autism spectrum disorder & language delay|Autism |Autism & learning difficulties|Autism & mental retardation|Autism & seizures|Autism spectrum disorder|Autism spectrum disorder & attention deficit hyperactivity disorder|Autism spectrum disorder & developmental delay|Autism spectrum disorder & dysmorphic features|Autism spectrum disorder & intellectual disability|Behavioural problems|Congenital heart defect  |Craniofacial dysmorphism|Developmental delay & speech/motor delay|Developmental delay with early-onset epilepsy|Developmental delay, dysmorphic features & short stature|Developmental delay, epilepsy, autism|Developmental delay, language delay & hypotonia|Developmental delay, learning difficulties, ADHD|Developmental delay, microcephaly & behavioural problems|Developmental delay, pulmonic stenosis & autism spectrum disorder|Developmental delay, short stature and diaphragmatic hernia|Developmental delay, speech delay & microcephaly|Developmental delay & seizures|Developmental delay & seizure disorder|Cystic hygroma, hydrops & micrognathia|Cystic hygroma, shortened upper limbs & fetal demise|Developmental & speech delay|Developmental delay|Developmental delay / autism|Developmental delay & autism|Developmental delay & dysmorphic features|Developmental delay & epilepsy|Developmental delay & hypotonia|Developmental delay & multiple congenital anomalies	ICGC,
chrX	138757583	138757583	C	A	intronic	MCF2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	reproductive system phenotype	Autism spectrum disorder	ICGC,
chr4	44651745	44651745	A	G	intronic	YIPF7	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27653710	-	NKTL-SG|1|50|0.02000	-	-	-	-	COSMIC,ICGC,
chr5	7401389	7401389	G	A	intronic	ADCY2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chrX	35881900	35881900	G	A	intergenic	MAGEB16,CXorf22	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Potential protein deficiency,-	ICGC,
chr19	44983732	44983732	G	A	intronic	ZNF180	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr11	111238265	111238265	T	G	intronic	POU2AF1	unknown	SNV	-	-	-	0.5825	rs4547134	-	0.503395	-	0.514	-	-	LAML-KR|1|205|0.00488	-	-	mortality/aging	-	ICGC,
chr10	16527189	16527189	T	-	intronic	PTER	unknown	deletion	-	-	-	3.237e-05	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-	-	ICGC,
chr14	68141754	68141754	G	A	upstream	VTI1B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6542791	-	PBCA-DE|1|499|0.00200	-	-	mortality/aging	-	COSMIC,ICGC,
chr1	43546724	43546724	G	A	intergenic	SLC2A1-AS1,FAM183A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr7	112239904	112239904	-	TGTTT	intergenic	LSMEM1,LOC100996249	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr2	79869687	79869687	T	G	intronic	CTNNA2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Schizophrenia	ICGC,
chr6	36978474	36978474	C	T	intronic	FGD2	unknown	SNV	-	-	-	0.0014	rs141641102	-	0.00219649	-	-	-	-	MELA-AU|1|183|0.00546	-	-	reproductive system phenotype	-	ICGC,
chr15	24166190	24166190	A	C	intergenic	NDN,PWRN2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,-	-,-	ICGC,
chr18	76142913	76142913	A	T	intergenic	LINC01029,SALL3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BOCA-UK|1|130|0.00769	-	-	-,mortality/aging	-,-	ICGC,
chr6	154229530	154229530	C	T	intergenic	RGS17,OPRM1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,integument phenotype	-,Striatal dopamine response to alcohol|Post-operative pain response, association with|Pressure pain sensitivity in females, association with|Proinflammatory cytokine levels and health perception, association with|Reduced agonist potency|Reduced agonist potency, association with|Reduced expression|Reduced promoter activity|Smoking behaviour, increased susceptibility|Pain perception, association with|Increased promoter activity|Impaired receptor signalling|Addiction, association with|Altered beta-endorphin binding, association with|Altered reinforcement learning, association with|Altered trafficking and/or signalling|Decreased body mass index, association with|Decreased receptor expression|Drug intake, association with |Epilepsy|Epilepsy, association with 	ICGC,
chr4	152759884	152759884	C	T	intergenic	PET112,LOC100996286	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr12	1299073	1299073	C	T	exonic	ERC1	stopgain	SNV	-	-	8.137e-06	-	rs199764310	8.276e-06	0.000199681	-	-	COSM269116	COAD|1|367|0.00272,COADREAD|1|489|0.00204	-	-	-	mortality/aging	Childhood apraxia of speech	COSMIC,TCGA,
chr2	232415581	232415581	C	T	intergenic	NMUR1,C2orf57	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	-,-	ICGC,
chr7	81637323	81637323	T	C	intronic	CACNA2D1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	behavior/neurological phenotype	Short QT syndrome|Schizophrenia  |Histiocytoid cardiomyopathy|Epileptic encephalopathy  |Brugada syndrome    	ICGC,
chr20	60853343	60853343	C	G	intronic	OSBPL2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-	-	ICGC,
chr13	93162136	93162136	T	A	intronic	GPC5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	Spina bifida  	ICGC,
chr8	142896371	142896371	C	T	intergenic	MROH5,MIR4472-1	unknown	SNV	-	-	-	3.306e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr8	60813488	60813488	C	T	intergenic	TOX,CA8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype,behavior/neurological phenotype	Pulmonary tuberculosis, association  with,Ataxia, cerebellar hypoplasia|Cerebellar ataxia and quadrupedal locomotion|Cerebellar ataxia, mental retardation & dysequilibrium syndrome 3	ICGC,
chr16	22895743	22895743	A	T	intronic	HS3ST2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr10	9980111	9980111	G	A	intergenic	LOC101928272,LOC101928298	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr8	115540820	115540820	A	G	intergenic	CSMD3,TRPS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5672119	-	LIRI-JP|1|258|0.00388	-	-	-,integument phenotype	Schizophrenia  |Colorectal cancer ,Tricho-rhino-phalangeal syndrome with supernumerary teeth|Tricho-rhino-phalangeal syndrome III|Tricho-rhino-phalangeal syndrome I|Tricho-rhino-phalangeal syndrome|Infantile scoliosis & developmental delay|Femoral neck width, association with|Ambras syndrome	COSMIC,ICGC,
chr11	1317700	1317700	G	A	intronic	TOLLIP	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	immune system phenotype	-	ICGC,
chr9	106554304	106554304	G	A	intergenic	LOC101928496,LOC101928523	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332,SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr6	3132058	3132058	T	C	intronic	BPHL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr8	50006197	50006197	A	C	intergenic	C8orf22,SNTG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|3|301|0.00997	-	-	-,-	-,Autism|Intellectual disability, cleft palate, hearing loss and dysmorphisms	ICGC,
chr7	19939031	19939031	C	T	intergenic	TMEM196,LOC101927668	unknown	SNV	-	-	-	-	rs183105107	-	0.000199681	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chrY	19405056	19405056	T	-	intergenic	NONE,FAM41AY1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|2|301|0.00664	-	-	-,-	-,-	ICGC,
chr4	63231968	63231968	T	A	intergenic	LPHN3-AS1,TECRL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BOCA-UK|1|130|0.00769	-	-	-,-	-,-	ICGC,
chr2	107269336	107269336	G	A	intergenic	RGPD3,ST6GAL2	unknown	SNV	-	-	-	3.231e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr17	13572987	13572987	G	A	intergenic	HS3ST3A1,CDRT15P1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	219646005	219646005	C	T	intergenic	LYPLAL1,RNU5F-1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Cirrhosis, nonalcoholic steatohepatitis-related,-	ICGC,
chr8	76963247	76963247	A	-	intergenic	HNF4G,LINC01111	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	EOPC-DE|1|202|0.00495	-	-	respiratory system phenotype,-	-,-	ICGC,
chr12	6152936	6152936	G	A	intronic	VWF	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	UTCA-FR|1|20|0.05000	-	-	mortality/aging	Von Willebrand disease 2m|Von Willebrand disease 2c|Von Willebrand disease 2b-like|Von Willebrand disease 2b|Von Willebrand disease 2a/e|Von Willebrand disease 2a/b|Von Willebrand disease 2a/2c|Von Willebrand disease 2a.|Von Willebrand disease 2a & 2m|Von Willebrand disease 2n|Von Willebrand disease 2n/1|Von Willebrand disease 2u|VWF type 2M|VWF type 2B|VWF type 2A|VWD type 2A|Von Willebrand, Normandy variant|Von Willebrand disease, quantitative type, association with|Von Willebrand disease, association with|Von Willebrand disease 3.|Von Willebrand disease 3|Von Willebrand disease 2a & 1|Von Willebrand disease 2a|Proteolysis by ADAMTS13, susceptibility to|Increased VWF antigen levels, association with |Increased protein cleavage by ADAMTS13|Increased affinity for GPIb alpha|Haemolytic uraemic syndrome, atypical.|Haemolytic uraemic syndrome, atypical|Defective collagen binding|Cryptogenic stroke|Altered VWF antigen/FVIII coagulant activity|Reduced maximum creatinine levels, association with.|Reduced protein cleavage by ADAMTS13|Von Willebrand disease 2|Von Willebrand disease 1/2M|Von Willebrand disease 1.|Von Willebrand disease 1, 2a & 2m|Von Willebrand disease 1|Von Willebrand disease|Venous thrombosis, increased risk|Reduced vWF plasma protein levels|Reduced VWF and FVIII levels|Altered ristocetin-induced platelet aggregation	ICGC,
chr11	5020872	5020872	T	C	exonic	OR51L1	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM3967566	GBMLGG|1|820|0.00122,LGG|1|530|0.00189	LGG-US|1|283|0.00353	-	-	-	Altered receptor function	COSMIC,TCGA,ICGC,
chr6	40208552	40208552	C	T	intergenic	MOCS1,LINC00951	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype,-	Molybdenum cofactor deficiency,Esophageal squamous cell carcinoma, reduced risk	ICGC,
chr5	100995618	100995618	G	A	intergenic	ST8SIA4,SLCO4C1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging,-	-,-	ICGC,
chr5	4975636	4975636	G	C	intergenic	LOC101929153,LINC01020	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr1	11196585	11196585	C	G	intronic	MTOR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	mortality/aging	Gastric cancer, reduced risk, association with|Renal cell cancer, reduced risk, association with	ICGC,
chrX	13778718	13778718	C	T	exonic	OFD1	synonymous	SNV	-	-	2.281e-05	0.0001	rs764423950	2.386e-05	-	-	-	COSM6223978	-	COCA-CN|1|321|0.00312	-	-	mortality/aging	Simpson-Golabi-Behmel syndrome|Retinitis pigmentosa, X-linked|Potential protein deficiency|Oral-facial-digital syndrome 6|Oral-facial-digital syndrome 1|Joubert syndrome	COSMIC,ICGC,
chr5	168918211	168918211	C	A	intergenic	SLIT3,SPDL1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5072657	-	LINC-JP|1|394|0.00254	-	-	mortality/aging,-	Schizophrenia  |Major depressive disorder |Autism spectrum disorder,-	COSMIC,ICGC,
chr1	230503475	230503475	C	A	intronic	PGBD5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr12	122808920	122808920	A	C	intronic	CLIP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	reproductive system phenotype	-	ICGC,
chr6	80070357	80070357	C	T	intergenic	HMGN3-AS1,LCA5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,vision/eye phenotype	-,Leber congenital amaurosis|Retinal dystrophy, early-onset|Retinitis pigmentosa	ICGC,
chr4	174235092	174235092	A	T	intronic	GALNT7	unknown	SNV	-	-	0.0293	0.0297	rs75731353	0.0400	0.038738	-	-	-	-	COCA-CN|2|321|0.00623,LUSC-KR|1|170|0.00588	-	-	-	-	ICGC,
chr11	111295123	111295123	-	GCGAAAATGCTGGGCGTCCT	intergenic	LOC100132078,BTG4	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PRAD-UK|1|140|0.00714	-	-	-,-	-,-	ICGC,
chr6	104764277	104764277	C	T	intergenic	NONE,HACE1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,tumorigenesis	-,Wilms tumour 	ICGC,
chr13	74055386	74055386	G	A	intergenic	KLF5,LINC00392	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Hypertension, association with,-	ICGC,
chrX	148397989	148397989	C	T	intergenic	AFF2,IDS	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22037497	-	BRCA-EU|1|569|0.00176	-	-	integument phenotype,integument phenotype	Premature ovarian failure|Mental retardation  |Intellectual disability, X-linked|Intellectual disability, hypotonia & dysmorphic features|Intellectual disability, ataxia & bilateral inguinal hernia|Intellectual disability & autism|Fragile site, FRAXE|Developmental delay  |Autism spectrum disorder|Autism|Altered expression,Tetralogy of Fallot|Mucopolysaccharidosis II, with seizures|Mucopolysaccharidosis II with mental retardation|Mucopolysaccharidosis II|Hunter syndrome	COSMIC,ICGC,
chr9	89606710	89606710	C	T	ncRNA_intronic	LOC100506834	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr3	128042466	128042466	C	T	intronic	EEFSEC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr13	78957573	78957573	G	A	ncRNA_intronic	RNF219-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr5	25962514	25962514	G	A	intergenic	LOC340107,CDH9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr7	21290256	21290256	-	A	intergenic	RPL23P8,SP4	unknown	insertion	-	-	-	0.0073	rs548315998	-	0.00379393	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,-	ICGC,
chr8	4973733	4973733	-	TGTGTG	intergenic	CSMD1,LOC100287015	unknown	insertion	-	-	-	0.2648	rs141063281	-	0.226837	-	-	COSN27500714	-	-	-	-	-,-	Schizophrenia, association with |Hyperinsulinism|Autism|Attention deficit hyperactivity disorder ,-	COSMIC,
chr2	56683920	56683920	C	A	intergenic	CCDC85A,VRK2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr1	115484674	115484674	G	C	intronic	SYCP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	reproductive system phenotype	-	ICGC,
chr16	53400861	53400861	C	T	intergenic	CHD9,LOC643802	unknown	SNV	-	-	-	9.269e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	84246521	84246521	C	T	intergenic	NONE,LINC00971	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6781050	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr12	33994548	33994548	C	T	intergenic	SYT10,ALG10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,-	-,-	ICGC,
chr6	11081253	11081253	C	T	intergenic	ELOVL2-AS1,SMIM13	unknown	SNV	-	-	-	0.0014	rs117632443	-	0.00399361	-	0.014	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chrX	125513627	125513627	G	A	intergenic	DCAF12L2,DCAF12L1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22568219	-	BRCA-UK|1|141|0.00709,BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,COSMIC,ICGC,
chr18	74363644	74363644	G	T	intergenic	LOC101927651,LOC400661	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-,-	-,-	ICGC,
chr11	51191233	51191233	T	C	intergenic	LOC646813,OR4A5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr5	148472974	148472974	C	T	ncRNA_intronic	LOC255187	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-	-	ICGC,
chr16	64945308	64945308	G	A	intergenic	NONE,CDH11	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	-,-	ICGC,
chr17	31680636	31680636	G	A	intronic	ASIC2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	taste/olfaction phenotype	Dyslexia 	ICGC,
chr1	209455987	209455987	A	C	intergenic	PLXNA2,MIR205HG	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22443647	-	BRCA-EU|1|569|0.00176	-	-	vision/eye phenotype,-	Tetralogy of Fallot,-	COSMIC,ICGC,
chr20	43065722	43065722	G	A	intergenic	HNF4A,LINC01430	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Diabetes, type 2, association with|Fanconi syndrome with nephrocalcinosis|Hypercholesterolaemia ?|Hypoglycaemia, hyperinsulinaemic|Reduced expression|Diabetes, MODY1|Diabetes, MODY|Altered micro-RNA binding|Crohn's disease, childhood onset, association with|Diabetes  |Diabetes mellitus, type 2 |Diabetes, childhood-onset.,-	ICGC,
chr12	62171382	62171382	G	A	intronic	FAM19A2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr1	14010089	14010089	A	T	intergenic	PDPN,PRDM2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,mortality/aging	-,Bone mineral density, association with 	ICGC,
chr7	120979273	120979273	C	T	exonic	WNT16	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM3831732	BRCA|1|982|0.00102	BRCA-US|1|955|0.00105	-	-	-	Increased transcriptional activity|Cortical bone thickness/bone mineral density, association with|Bone mineral density, association with	COSMIC,COSMIC,TCGA,ICGC,
chr8	9135598	9135598	-	TTT	intergenic	PPP1R3B,LOC157273	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	reproductive system phenotype,-	-,-	ICGC,
chr10	64370674	64370674	C	T	intronic	ZNF365	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-	Uric acid nephrolithiasis, association with|Crohn's disease, association with|Breast cancer, increased risk  	ICGC,
chr1	197988201	197988201	C	T	intergenic	LHX9,NEK7	unknown	SNV	-	-	-	0.0069	rs75317653	-	0.00878594	-	0.022	COSN16243418	-	PRAD-CA|1|308|0.00325	-	-	reproductive system phenotype,mortality/aging	-,-	COSMIC,ICGC,
chr8	25706758	25706758	G	A	intronic	EBF2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6919993	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging	-	COSMIC,ICGC,
chr18	58437977	58437977	T	G	intergenic	MC4R,CDH20	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	hematopoietic system phenotype,-	Obesity, severe|Reduced activity|Reduced function   |Reduced transcriptional activity|Weight loss after gastric bypass surgery, association with|Obesity, protection against, association with|Obesity, early onset|Obesity, autosomal dominant, association with|Obesity, autosomal dominant|Obesity, association with.|Obesity|Melanocortin-4 receptor variant|Decreased body mass, association with,-	ICGC,
chr22	29854673	29854673	A	G	intergenic	RFPL1,NEFH	unknown	SNV	-	-	-	0.0072	rs74747137	-	0.00798722	-	0.014	COSN17893484	-	SKCA-BR|1|100|0.01000	-	-	-,behavior/neurological phenotype	-,Amyotrophic lateral sclerosis|Motor neuron disease, association with	COSMIC,ICGC,
chr2	145584597	145584597	G	A	ncRNA_intronic	TEX41	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr3	78532267	78532267	A	G	intergenic	ROBO2,ROBO1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,mortality/aging	Autism spectrum disorder  |Urinary tract anomalies|Vesicoureteral reflux,Developmental dyslexia 	ICGC,
chr17	14069424	14069424	G	A	intronic	COX10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Cytochrome c oxidase deficiency	ICGC,
chr7	998598	998598	C	T	intergenic	ADAP1,COX19	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr12	17149688	17149688	C	G	intergenic	SKP1P2,MIR3974	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	-,-	ICGC,
chr8	31355344	31355344	G	A	intergenic	WRN,NRG1	unknown	SNV	-	-	-	0	rs201074963	-	-	-	0.007	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,integument phenotype	Werner syndrome|Thromboembolic disease, association with|Schizophrenia|Sarcomas, association with|Reduced enzyme activity|Partial lipodystrophy with insulin resistance & adult progeria Werner syndrome|Non-hodgkin lymphoma, association with|Lung cancer|Coronary stenosis, reduced risk, association with|Breast cancer, association with|Breast cancer risk in radiographers, association with,Sudden cardiac death, association with|Schizophrenia, association with  |Schizophrenia in African Americans, association with|Prepulse inhibition, association with|Perceptual aberration of schizotypal personality, association with|Increased lateral ventricle volume in schizophrenia|Hirschsprung disease|Developmental delay, hypotonia & microcephaly|Alzheimers disease, association with	ICGC,
chr3	69617544	69617544	A	T	intergenic	FRMD4B,MITF	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,integument phenotype	-,Waardenburg syndrome 2A|Waardenburg syndrome 2.|Waardenburg syndrome 2|Waardenburg syndrome|Tietz/Waardenburg type 2A-like syndrome|Tietz syndrome|Reduced expression|Melanoma / renal cell carcinoma, association with|Melanoma	ICGC,
chr10	23729300	23729300	G	T	exonic	OTUD1	nonsynonymous	SNV	0.041	0.982	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr7	115203707	115203707	G	A	intergenic	LINC01393,TFEC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397,MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,-	ICGC,
chr10	14588483	14588483	G	A	intronic	FAM107B	unknown	SNV	-	-	-	3.227e-05	-	-	-	-	-	COSN27096582	-	ESAD-UK|1|301|0.00332	-	-	skeleton phenotype	-	COSMIC,ICGC,
chr5	99608005	99608005	G	A	intergenic	CTD-2151A2.1,LOC100133050	unknown	SNV	-	-	-	9.691e-05	-	-	-	-	-	COSN23569195	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr15	88483921	88483921	C	-	exonic	NTRK3	frameshift	deletion	-	-	-	-	-	-	-	-	-	COSM5637215	-	-	-	-	mortality/aging	Panic disorder, association with|Obsessive-compulsive disorder, association with|Autism spectrum disorder	COSMIC,COSMIC,
chr6	115604314	115604314	G	A	intergenic	HS3ST5,FRK	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,homeostasis/metabolism phenotype	-,Potential protein deficiency	ICGC,
chr21	40008427	40008427	A	C	intronic	ERG	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23697967	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	-	COSMIC,ICGC,
chr2	17846846	17846846	G	A	exonic	SMC6	stopgain	SNV	-	-	4.104e-06	-	rs867741404	-	-	-	-	COSM4809533	-	BOCA-UK|1|130|0.00769,BRCA-UK|1|141|0.00709	-	-	-	-	COSMIC,COSMIC,ICGC,
chr3	56153462	56153462	C	T	intronic	ERC2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	vision/eye phenotype	-	ICGC,
chr11	17721038	17721038	G	A	intergenic	OTOG,MYOD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	reproductive system phenotype,mortality/aging	Hearing impairment, nonsyndromic,-	ICGC,
chr2	67764275	67764275	C	T	intergenic	ETAA1,LOC101927701	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	215861190	215861190	C	T	intronic	USH2A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	vision/eye phenotype	Retinitis pigmentosa?|Retinitis pigmentosa.|Sensorineural hearing loss, nonsyndromic  |Usher syndrome  |Usher syndrome 1  |Usher syndrome 2|Usher syndrome 2a|Usher syndrome 3 |Retinitis pigmentosa, recessive, no hearing loss|Retinitis pigmentosa, autosomal recessive.|Retinitis pigmentosa, autosomal recessive |Retinitis pigmentosa|Retinal degeneration|Hearing loss, early-childhood|Deafness, non-syndromic |Deafness  |Autism spectrum disorder|Autism	ICGC,
chr3	34090319	34090319	T	-	intergenic	PDCD6IP,LOC101928135	unknown	deletion	-	-	-	0.0967	rs398082027	-	0.140974	-	0.007	COSN23373997	-	-	-	-	-,-	Hepatocellular carcinoma, increased risk, association with,-	COSMIC,
chr5	176831173	176831244	TCCTTCCCCCCCCCACTTCCTAACCTCCCGGGGTCTGGGACTGAGGCGGGGTCCGGGTCGTGGGCTGAGGCT	-	exonic	F12	nonframeshift	deletion	-	-	1.541e-05	-	-	3.394e-05	-	-	-	-	-	-	Hereditary_angioneurotic_edema_with_normal_C1_esterase_inhibitor_activity	-	homeostasis/metabolism phenotype	Premature myocardial infarction, association with|Lower F12 activity in Sotos syndrome patients with common deletio|Haemolytic uraemic syndrome, atypical.|Haemolytic uraemic syndrome, atypical|Factor XII deficiency|Deep vein thrombosis  |Cerebral venous thrombosis risk, association with|Angioedema, hereditary	ClinVar,
chr4	24458794	24458794	G	A	intergenic	PPARGC1A,MIR573	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Neovascularization in age-related macular degeneration, reduced risk|Left ventricular diastolic dysfunction in men, association with|Insulin resistance, association with|Increased risk for HCM|Hyperinsulinemia, HOMA-IR indices and abdominal obesity, association with|Huntington disease, age-at-onset in males, association with|Endurance-related phenotypes, association with|Diabetic nephropathy, association with|Diabetes, type 2, lower risk, association with|Diabetes, type 2, association with|Breast cancer|Body mass index, association with|Blood pressure, association with,-	ICGC,
chr2	65872993	65872993	T	-	intergenic	SPRED2,MIR4778	unknown	deletion	-	-	-	-	-	-	-	-	0.029	-	-	LMS-FR|2|67|0.02985	-	-	hematopoietic system phenotype,-	Childhood apraxia of speech,-	ICGC,
chr3	108285474	108285474	C	T	exonic	KIAA1524	nonsynonymous	SNV	0.025	0.888	-	-	-	-	-	-	-	COSM6215251	-	EOPC-DE|1|202|0.00495	-	-	reproductive system phenotype	-	COSMIC,ICGC,
chr7	158958512	158958512	C	A	intergenic	VIPR2,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	reproductive system phenotype,-	Schizophrenia, increased risk |Agenesis of corpus callosum ,-	ICGC,
chr1	111783840	111783840	G	A	intronic	CHI3L2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN4743392	-	MALY-DE|1|241|0.00415	-	-	-	Increased promoter activity	COSMIC,ICGC,
chr5	112177787	112177787	C	T	exonic	APC	stopgain	SNV	-	-	-	-	-	-	-	-	-	COSM13122	-	-	not_provided	-	integument phenotype	Desmoid tumour|Desmoid tumours|Extra nuchal-type fibroma, association with|Gardner syndrome.|Hepatoblastoma|Increased bone mineral density|Juvenile polyposis coli|Leukaemia risk|Multiple adenomas|Neoplasia, multifocal hepatic.|Pilomatrixoma|Potential protein deficiency|Thyroid cancer|Colorectal cancer?|Colorectal cancer, severe phenotype, association with |Adenomatous polyposis coli|Adenomatous polyposis coli and CHRPE|Adenomatous polyposis coli, association with |Adenomatous polyposis coli, attenuated|Adenomatous polyposis coli, attenuated.|Adenomatous polyposis coli.|Adenomatous polyposis with epiretinal membrane|Advanced distal adenoma, in a high-fat diet, association with|APC with desmoid tumour|Colorectal adenoma|Colorectal cancer|Colorectal cancer, non-polyposis|Colorectal cancer, predisposition to, association|Turcot syndrome.	ClinVar,COSMIC,
chr16	64871035	64871035	G	A	intergenic	NONE,CDH11	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,-	ICGC,
chr14	106330546	106330546	C	T	intergenic	ELK2AP,KIAA0125	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25474610	-	CLLE-ES|1|510|0.00196,MALY-DE|2|241|0.00830	-	-	-,-	-,-	COSMIC,COSMIC,ICGC,
chr7	64932609	64932609	T	A	ncRNA_intronic	LOC441242	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-UK|1|140|0.00714	-	-	-	-	ICGC,
chr17	54955502	54955502	G	C	intergenic	DGKE,MTVR2	unknown	SNV	-	-	-	0.0013	-	-	-	-	0.007	COSN19354629	-	PEME-CA|1|112|0.00893	-	-	behavior/neurological phenotype,-	Haemolytic uraemic syndrome, atypical|Glomerular microangiopathy,-	COSMIC,ICGC,
chr8	5891177	5891177	T	G	intergenic	CSMD1,LOC100287015	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	Schizophrenia, association with |Hyperinsulinism|Autism|Attention deficit hyperactivity disorder ,-	ICGC,
chr5	56862927	56862927	G	A	intergenic	ACTBL2,LINCR-0003	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9452530	-	OV-AU|1|93|0.01075	-	-	-,-	-,-	COSMIC,ICGC,
chr13	36894833	36894833	G	C	intronic	SPG20	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22473593	-	BRCA-EU|1|569|0.00176	-	-	skeleton phenotype	Troyer syndrome	COSMIC,ICGC,
chr9	98031984	98031984	T	C	intronic	FANCC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	hematopoietic system phenotype	T-cell acute lymphocytic leukaemia|Potential protein deficiency|Fanconi anaemia|Breast cancer  |Breast and/or ovarian cancer	ICGC,
chr4	100049352	100049352	A	G	ncRNA_intronic	LOC100507053	unknown	SNV	-	-	-	0.2145	rs28987100	-	0.117013	-	0.232	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr18	6791837	6791837	G	T	intergenic	C18orf64,ARHGAP28	unknown	SNV	-	-	-	0.0450	rs72893655	-	0.0323482	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr21	46455298	46455298	G	A	intergenic	LINC00162,SSR4P1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	173044024	173044024	G	A	intergenic	TNFSF18,TNFSF4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,hematopoietic system phenotype	Autism spectrum disorder,Venous thromboembolism, association with|Systemic sclerosis, susceptibility to, association with|Systemic sclerosis, protection against, association with|Systemic sclerosis, association with|Systemic lupus erythematosus, association with|Reduced serum high-density lipoprotein cholesterol and apo AI levels, in hypertriglyceridaemia patients, association with.|Myocardial infarction, increased risk, association with|Atherosclerosis, susceptibility, association with	ICGC,
chr9	77678616	77678616	A	-	intronic	NMRK1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176,LIRI-JP|1|258|0.00388,MALY-DE|1|241|0.00415	-	-	-	-	ICGC,
chr7	91080667	91080667	G	A	intergenic	FZD1,MTERF1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	integument phenotype,-	Bone mineral density, association with  |Altered transcription factor binding,-	ICGC,
chr17	46820585	46820585	C	T	intergenic	HOXB13,TTLL6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype,-	Prostate cancer, increased risk|Prostate cancer, association with.|Potential protein deficiency|Colorectal cancer, association with.|Breast cancer, association with.,Potential protein deficiency	ICGC,
chr16	70191659	70191659	G	T	UTR3	PDPR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr10	19758498	19758498	A	G	intronic	MALRD1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2497922	-	-	-	-	-	-	COSMIC,
chr4	186400277	186400277	C	T	intergenic	CCDC110,PDLIM3	unknown	SNV	-	-	-	3.231e-05	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,Cardiomyopathy, hypertrophic |Cardiomyopathy, dilated	ICGC,
chr5	28237043	28237043	C	T	intergenic	LINC01021,LSP1P3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23538483	-	ESAD-UK|1|301|0.00332,SKCA-BR|1|100|0.01000	-	-	-,-	-,-	COSMIC,ICGC,
chr12	126227378	126227378	T	C	intergenic	TMEM132B,LINC00939	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2486926	-	-	-	-	-,-	-,-	COSMIC,
chr4	116080389	116080389	G	A	intergenic	NDST4,MIR1973	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	67371674	67371674	C	G	intergenic	MIR4272,SUCLG2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr6	50431587	50431587	G	C	intergenic	DEFB112,TFAP2D	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,cellular phenotype	-,Schizophrenia	ICGC,
chr16	70799888	70799888	T	A	ncRNA_intronic	VAC14-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24978506	-	LICA-FR|1|252|0.00397	-	-	-	-	COSMIC,ICGC,
chr5	5637428	5637428	C	T	intergenic	ICE1,FLJ33360	unknown	SNV	-	-	-	3.229e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr6	130968792	130968792	C	A	intergenic	TMEM200A,SMLR1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr2	212826620	212826620	A	T	intronic	ERBB4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	integument phenotype	Schizophrenia |Oligohydramnios|Intellectual disability, hyperactivity & speech developmental delay|Increased promoter activity|Hepatocellular carcinoma, increased risk, association with|Epileptic encephalopathy, early infantile 3|Breast and colorectal cancer, association with|Bipolar disorder, association with |Bipolar disorder |Autism spectrum disorder  |Amyotrophic lateral sclerosis type 19	ICGC,
chr4	62879683	62879683	G	T	intronic	LPHN3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-AU|1|391|0.00256	-	-	behavior/neurological phenotype	-	ICGC,
chr2	228905289	228905294	TCTTTT	-	intronic	SPHKAP	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	-	-	ICGC,
chr7	101337717	101337717	G	A	intergenic	MYL10,CUX1	unknown	SNV	-	-	-	0.0003	rs555186029	-	0.000599042	-	-	COSN21807785	-	BRCA-EU|1|569|0.00176	-	-	-,integument phenotype	-,-	COSMIC,ICGC,
chr5	8618907	8618907	G	T	intergenic	MIR4458HG,LOC101929284	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2122389	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr1	104683801	104683801	G	A	intergenic	LOC100129138,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr6	70050281	70050281	A	G	intronic	BAI3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27096288	-	ESAD-UK|1|301|0.00332	-	-	-	-	COSMIC,ICGC,
chr13	89213852	89213852	A	G	intergenic	LINC00433,LINC00353	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	ICGC,
chr17	55317053	55317053	G	A	intergenic	AKAP1,MSI2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	reproductive system phenotype,mortality/aging	-,-	ICGC,
chr19	35486859	35486859	C	T	intergenic	ZNF792,GRAMD1A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chrX	44299849	44299849	A	G	intergenic	EFHC2,FUNDC1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	Mental retardation, X-linked,-	ICGC,
chr8	34672944	34672944	G	T	intergenic	DUSP26,UNC5D	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	ICGC,
chr14	61880829	61880829	G	A	intronic	PRKCH	unknown	SNV	-	-	-	3.236e-05	-	-	-	-	-	COSN6255538	-	LIRI-JP|1|258|0.00388	-	-	integument phenotype	Sudden sensorineural hearing loss, increased risk|Silent lacunar infarction, association with|Gastric atrophy, association with|Cerebral infarction, association with	COSMIC,ICGC,
chrX	89668078	89668078	A	G	intergenic	TGIF2LX,PABPC5-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr11	67475719	67475719	A	G	intergenic	ALDH3B2,FAM86C2P	unknown	SNV	-	-	-	0.4156	rs4930498	-	0.483626	-	0.036	-	-	LAML-KR|2|205|0.00976	-	-	-,-	-,-	ICGC,
chr1	108435427	108435427	A	G	intronic	VAV3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	hematopoietic system phenotype	Autism|Schizophrenia, reduced risk, association with 	ICGC,
chr4	45627158	45627158	A	T	intergenic	GNPDA2,GABRG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr7	49435539	49435539	G	A	intergenic	CDC14C,VWC2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	91305428	91305428	G	A	intergenic	ARRDC3-AS1,NR2F1-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr2	63026159	63026159	-	AAA	intronic	EHBP1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	-	ICGC,
chr1	176971224	176971224	G	A	intronic	ASTN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	-	ICGC,
chr22	26569357	26569357	C	A	intronic	SEZ6L	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21566017	-	BRCA-UK|1|141|0.00709,BRCA-EU|1|569|0.00176	-	-	behavior/neurological phenotype	-	COSMIC,ICGC,
chr19	52468128	52468128	A	C	exonic	ZNF350	nonsynonymous	SNV	0.009	0.023	-	-	-	-	-	-	-	COSM6829599	-	-	-	-	-	Bladder cancer, reduced risk, association with|Breast cancer, protection against, association with |Increased expression levels	COSMIC,
chr19	56306975	56306975	C	A	intronic	NLRP11	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-	-	ICGC,
chr14	83016062	83016062	G	T	intergenic	LOC101928559,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr5	4930086	4930086	-	TGAG	intergenic	LOC101929153,LINC01020	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|2|67|0.02985	-	-	-,-	-,-	ICGC,
chr1	189978205	189978205	G	A	intergenic	NONE,BRINP3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr10	94144914	94144914	C	T	intergenic	MARCH5,MARK2P9	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27936770	-	PRAD-CA|1|308|0.00325	-	-	mortality/aging,-	-,-	COSMIC,ICGC,
chr15	46405471	46405471	A	C	intergenic	SQRDL,SEMA6D	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8389236	-	MALY-DE|1|241|0.00415	-	-	-,immune system phenotype	-,Developmental language disorder 	COSMIC,ICGC,
chrX	143845573	143845573	G	A	intergenic	UBE2NL,SPANXN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Potential protein deficiency,-	ICGC,
chr19	43605877	43605877	G	A	intergenic	PSG2,PSG5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	Potential protein deficiency,-	ICGC,
chr14	43909372	43909372	G	A	intergenic	LRFN5,FSCB	unknown	SNV	-	-	-	0.0061	rs138236377	-	0.00638978	-	0.014	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Short stature|Developmental delay, seizures & learning problems ,Tourette syndrome 	ICGC,
chr4	60132519	60132519	-	CT	intergenic	NONE,NONE	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr1	207062197	207062197	T	-	intergenic	IL20,IL24	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,homeostasis/metabolism phenotype	Arthritis, systemic juvenile idiopathic, association with,-	ICGC,
chr5	63979369	63979369	G	A	intergenic	RGS7BP,FAM159B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	behavior/neurological phenotype,-	-,-	ICGC,
chr17	74172196	74172196	C	T	intronic	RNF157	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25559697	-	MALY-DE|1|241|0.00415	-	-	-	-	COSMIC,ICGC,
chr12	112879239	112879239	-	AT	intronic	PTPN11	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype	Noonan syndrome with malignant mastocytsosis|Noonan syndrome with lymphocytic leukaemia / basal cell carcinoma|Noonan syndrome with juvenile myelomonocytic leukaemia|Noonan syndrome with dysembryoplastic neuro-epithelial tumour|Noonan syndrome with ductal breast cancer|Noonan syndrome with colorectal cancer / epithelioid angiosarcoma|Noonan syndrome with multifocal ductal breast cancer|Noonan syndrome with multiple giant cell lesions|Noonan syndrome with neuroblastoma|Noonan syndrome with non-Hodgkin lymphoma|Noonan syndrome with oligodendroglioma|Potential protein deficiency|Severe neonatal hypertrophic cardiomyopathy, in Noonan syndrome|Thrombocytopaenia and Noonan syndrome.|Visual loss, cranial fibrous dysplasia, aneurysmal bone cyst|Noonan syndrome with acute lymphoblastic / juvenile myelomonocytic leukaemia|Noonan syndrome|Acute lymphoblastic leukaemia|Atrioventricular septal defect|Behcet's disease |Cardiomyopathy, hypertrophic.|Congenital heart defect & Noonan syndrome|Giant cell lesions in Noonan syndrome|Glioma  |LEOPARD syndrome|LEOPARD Syndrome.|Neurofibromatosis-Noonan syndrome|Myelomonocytic leukaemia, juvenile|ML / LEOPARD syndrome|Metachondrochromatosis|Medulloblastoma|Leukaemia, juvenile myelomonocitic	ICGC,
chr2	35094328	35094328	G	A	intergenic	MYADML,LOC100288911	unknown	SNV	-	-	-	3.232e-05	rs187744931	-	0.000399361	-	-	COSN22499328	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr2	67229586	67229586	A	G	intergenic	LOC101060019,LOC102800447	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr19	23046419	23046419	C	T	intergenic	ZNF99,ZNF728	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	Potential protein deficiency,-	ICGC,
chr10	90876370	90876370	T	A	intergenic	MIR4679-2,CH25H	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,immune system phenotype	-,-	ICGC,
chr14	19246340	19246340	G	A	intergenic	NONE,OR11H12	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	224043754	224043754	A	G	intergenic	TP53BP2,FBXO28	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8435659	-	OV-AU|1|93|0.01075	-	-	mortality/aging,-	-,Intellectual disability & seizures	COSMIC,ICGC,
chr13	44049029	44049029	A	G	intronic	ENOX1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	Myasthenia gravis, adult-onset autoimmune	ICGC,
chr19	48339975	48339975	C	T	intronic	CRX	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	vision/eye phenotype	Retinitis pigmentosa, autosomal recessive ?|Retinitis pigmentosa, autosomal dominant|Retinitis pigmentosa|Potential protein deficiency|Macular dystrophy  |Leber congenital amaurosis|Cone/cone-rod dystrophy.|Cone-rod dystrophy|Cone dystrophy	ICGC,
chr5	29896461	29896461	G	A	intergenic	LOC101929681,CDH6	unknown	SNV	-	-	-	0.4301	rs12518291	-	0.361422	-	0.457	-	-	ESAD-UK|1|301|0.00332	-	-	-,renal/urinary system phenotype	-,-	ICGC,
chr11	98076946	98076946	T	C	intergenic	MIR7976,CNTN5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7294978	-	PACA-AU|1|391|0.00256	-	-	-,behavior/neurological phenotype	-,-	COSMIC,ICGC,
chr9	28968607	28968607	C	A	intronic	LINGO2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-	Autism spectrum disorder  |Developmental delay with absent speech	ICGC,
chr1	86442391	86442391	C	A	intronic	COL24A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr11	110747807	110747807	T	G	intergenic	ARHGAP20,C11orf53	unknown	SNV	-	-	-	0.0197	rs73018093	-	0.0131789	-	0.036	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr8	23846500	23846500	C	T	intergenic	STC1,ADAM28	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6599635	-	PBCA-DE|1|499|0.00200	-	-	reproductive system phenotype,-	-,-	COSMIC,ICGC,
chr1	91244884	91244884	G	A	intergenic	BARHL2,ZNF644	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	-,High myopia |Myopia	ICGC,
chr1	216475740	216475740	T	A	intronic	USH2A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1430814	-	LIRI-JP|1|258|0.00388	-	-	vision/eye phenotype	Retinitis pigmentosa?|Retinitis pigmentosa.|Sensorineural hearing loss, nonsyndromic  |Usher syndrome  |Usher syndrome 1  |Usher syndrome 2|Usher syndrome 2a|Usher syndrome 3 |Retinitis pigmentosa, recessive, no hearing loss|Retinitis pigmentosa, autosomal recessive.|Retinitis pigmentosa, autosomal recessive |Retinitis pigmentosa|Retinal degeneration|Hearing loss, early-childhood|Deafness, non-syndromic |Deafness  |Autism spectrum disorder|Autism	COSMIC,ICGC,
chr2	162888206	162888206	C	T	intronic	DPP4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	endocrine/exocrine gland phenotype	Autism spectrum disorder	ICGC,
chr3	131441272	131441272	C	T	intronic	CPNE4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr8	84340721	84340721	A	C	intergenic	LINC01419,RALYL	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24427957	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	COSMIC,ICGC,
chr5	10043744	10043744	C	T	intergenic	LOC285692,FAM173B	unknown	SNV	-	-	-	-	rs565917020	-	0.000199681	-	-	COSN7851307	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	COSMIC,ICGC,
chr5	6991698	6991698	-	GTGTGT	intergenic	MIR4278,MIR4454	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr3	151077473	151077473	A	G	intronic	MED12L,P2RY12	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1921492	-	LIRI-JP|1|258|0.00388	-	-	-,hematopoietic system phenotype	-,Platelet ADP receptor defect	COSMIC,ICGC,
chrX	90698045	90698045	G	A	intergenic	PABPC5,PCDH11X	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	-,Absent speech, intellectual disability & behavioural problems|Attention deficit hyperactivity disorder & obsessive compulsive disorder|Developmental dyslexia |Language delay, nonsyndromic 	ICGC,
chr3	48461306	48461306	C	T	exonic	PLXNB1	nonsynonymous	SNV	0.5	0.004	-	-	-	-	-	-	-	-	-	NACA-CN|1|21|0.04762	-	-	vision/eye phenotype	Autism	ICGC,
chr13	98725190	98725190	G	A	intergenic	IPO5,FARP1	unknown	SNV	-	-	-	0.0003	rs753018945	-	-	-	-	-	-	NKTL-SG|1|50|0.02000	-	-	-,-	-,-	ICGC,
chr9	115446426	115446426	C	T	intergenic	KIAA1958,INIP	unknown	SNV	-	-	-	0.1770	rs2173196	-	0.148363	-	0.268	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr4	120801590	120801590	G	A	intergenic	LINC01365,LOC100996694	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr16	19394581	19394581	G	A	intergenic	CLEC19A,TMC5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,-	-,-	ICGC,
chr9	105356853	105356853	C	T	ncRNA_intronic	LINC00587	unknown	SNV	-	-	-	-	rs567801757	-	0.000199681	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr1	244882345	244882345	C	T	intergenic	DESI2,COX20	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	normal phenotype,-	Anorectal malformation,Dystonia-ataxia syndrome with reduced mitochondrial complex IV activity|Ataxia and muscle hypotonia	ICGC,
chr18	50526038	50526038	G	A	intronic	DCC	unknown	SNV	-	-	-	0.1013	rs11082961	-	0.170727	-	0.167	-	-	LAML-KR|1|205|0.00488	-	-	mortality/aging	Altered p53 transactivation|Colorectal cancer, risk, association with |Mirror movements, congenital	ICGC,
chr14	97860908	97860908	C	T	intergenic	LINC00618,LOC101929241	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chrX	27831922	27831922	G	T	intronic	MAGEB10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	RECA-EU|1|422|0.00237	-	-	-	-	ICGC,
chr12	121014027	121014027	G	A	intronic	RNF10	unknown	SNV	-	-	-	0.0926	rs3817301	-	0.0736821	-	0.058	-	-	ESAD-UK|1|301|0.00332	-	-	hematopoietic system phenotype	-	ICGC,
chr8	117887137	117887137	A	C	ncRNA_exonic	RAD21-AS1	unknown	SNV	-	-	7.867e-06	0.0005	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr4	16881070	16881070	C	T	intronic	LDB2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	normal phenotype	-	ICGC,
chr8	64393261	64393261	A	G	intergenic	YTHDF3,LINC01289	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22313780	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chrX	40686315	40686315	G	T	intergenic	MED14OS,LOC100132831	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr7	89431716	89431716	G	A	intergenic	ZNF804B,STEAP2-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	-,-	-,-	ICGC,
chr7	7242143	7242143	T	C	intronic	C1GALT1	unknown	SNV	-	-	-	0.0991	rs10215143	-	0.128594	-	0.101	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	IgA nephropathy, association with	ICGC,
chr14	22564800	22564800	C	A	intergenic	OR4E2,DAD1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26999881	-	-	-	-	-,mortality/aging	-,-	COSMIC,
chr5	23320427	23320427	A	G	intergenic	CDH12,PRDM9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,reproductive system phenotype	Lung cancer, susceptibility to, association with,Altered meiotic recombination hotspot usage|Azoospermia by meiotic arrest, association with |Azoospermia, non-obstructive 	ICGC,
chr6	144747466	144747466	C	T	exonic	UTRN	nonsynonymous	SNV	0.0	1.0	4.878e-05	-	rs755926708	4.951e-05	-	-	-	COSM3017236	-	BRCA-KR|1|50|0.02000	-	-	mortality/aging	Arthrogryposis |Schizophrenia	COSMIC,ICGC,
chrX	125271441	125271441	T	C	intergenic	LOC101928495,DCAF12L2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21318136	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr3	34123728	34123728	G	A	intergenic	PDCD6IP,LOC101928135	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	Hepatocellular carcinoma, increased risk, association with,-	ICGC,
chr5	39400317	39400317	G	C	intronic	DAB2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging	Autism	ICGC,
chr8	119665399	119665399	G	A	ncRNA_intronic	SAMD12-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr10	11191274	11191274	C	A	intronic	CELF2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr4	45333752	45333752	G	A	intergenic	GNPDA2,GABRG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr15	33936587	33936587	A	G	exonic	RYR3	nonsynonymous	SNV	0.232	0.998	-	-	-	-	-	-	-	COSM4054048	STAD|1|395|0.00253,STES|1|395|0.00253	STAD-US|1|289|0.00346	-	-	behavior/neurological phenotype	Schizophrenia|Hyperinsulinism|Breast cancer, increased risk, association with  	COSMIC,TCGA,ICGC,
chr7	72249753	72249753	G	A	intronic	TYW1B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27683052	-	NKTL-SG|1|50|0.02000	-	-	-	-	COSMIC,ICGC,
chrX	115851067	115851067	C	T	intergenic	CT83,KLHL13	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,Peripheral neuropathy  	ICGC,
chr9	112621365	112621365	G	T	intronic	PALM2,PALM2-AKAP2	unknown	SNV	-	-	-	0.2721	rs2769144	-	0.242013	-	0.159	COSN14788406	-	LAML-KR|1|205|0.00488	-	-	-,-	-,-	COSMIC,ICGC,
chr2	172907082	172907082	G	A	intronic	METAP1D	unknown	SNV	-	-	-	0	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr5	5802922	5802922	G	A	intergenic	ICE1,FLJ33360	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr4	119914913	119914913	A	C	intronic	SYNPO2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-	-	ICGC,
chr17	14375056	14375056	-	T	intergenic	HS3ST3B1,CDRT7	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LINC-JP|1|394|0.00254	-	-	-,-	-,-	ICGC,
chr5	21166159	21166159	G	A	intergenic	CDH18,GUSBP1	unknown	SNV	-	-	-	3.243e-05	-	-	-	-	-	COSN7927903	-	PACA-AU|1|391|0.00256	-	-	-,-	Anorectal malformation,-	COSMIC,ICGC,
chr3	90302052	90302052	A	G	intergenic	EPHA3,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	mortality/aging,-	Oligozoospermia|Schizophrenia    |Sertoli-cell-only syndrome,-	ICGC,
chr12	120150093	120150093	T	C	exonic	CIT	nonsynonymous	SNV	0.134	0.005	-	-	-	-	-	-	-	-	KICH|1|66|0.01515,KIPAN|1|799|0.00125	KICH-US|1|45|0.02222	-	-	mortality/aging	-	TCGA,ICGC,
chr16	83410763	83410763	G	A	intronic	CDH13	unknown	SNV	-	-	-	6.459e-05	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176,MELA-AU|1|183|0.00546	-	-	mortality/aging	Higher adiponectin levels|Amyotrophic lateral sclerosis 	ICGC,
chr8	117520447	117520447	G	A	intergenic	LINC00536,EIF3H	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27716297	-	NKTL-SG|1|50|0.02000	-	-	-,-	-,Colorectal cancer, increased risk, association with	COSMIC,ICGC,
chr9	23545894	23545894	G	A	ncRNA_intronic	LOC101929563	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7562655	-	PACA-AU|1|391|0.00256	-	-	-	-	COSMIC,ICGC,
chr4	40420758	40420758	C	T	intergenic	CHRNA9,RBM47	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype,-	Increased bronchial cell proliferation and transformation,-	ICGC,
chr2	226991825	226991825	C	T	intergenic	MIR548AR,LOC646736	unknown	SNV	-	-	-	-	rs748842013	-	-	-	-	COSN26175903	-	PRAD-UK|1|140|0.00714	-	-	-,-	-,-	COSMIC,ICGC,
chr7	126561839	126561839	C	T	intronic	GRM8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	Attention deficit hyperactivity disorder|Autism spectrum disorder  	ICGC,
chr4	98551541	98551541	A	G	intronic	STPG2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	-	ICGC,
chr5	30300595	30300595	T	C	intergenic	LOC101929681,CDH6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LAML-KR|1|205|0.00488	-	-	-,renal/urinary system phenotype	-,-	ICGC,
chr8	88365979	88365979	T	G	exonic	CNBD1	nonsynonymous	SNV	0.001	0.999	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr12	115044697	115044697	G	A	intergenic	TBX5-AS1,TBX3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,integument phenotype	-,Ulnar-mammary syndrome	ICGC,
chr12	96115079	96115079	A	G	intronic	NTN4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22969741	-	PAEN-IT|1|37|0.02703	-	-	-	-	COSMIC,COSMIC,ICGC,
chr15	87867108	87867108	T	C	intergenic	AGBL1,LINC00052	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6075373	-	LIRI-JP|1|258|0.00388	-	-	-,-	Fuchs corneal dystrophy, late-onset ,-	COSMIC,ICGC,
chr13	81233136	81233136	C	T	intergenic	SPRY2,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Cleft lip ,-	ICGC,
chr1	19588863	19588863	T	C	intergenic	MRTO4,AKR7L	unknown	SNV	-	-	-	0.0278	rs77722353	-	0.0307508	-	0.014	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr8	54459232	54459232	C	T	intergenic	OPRK1,ATP6V1H	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Alcohol dependence, association with|Opiate addiction, association with ,Schizophrenia  	ICGC,
chr7	113602866	113602866	A	G	intergenic	PPP1R3A,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	growth/size phenotype,-	Insulin resistance, association with|Insulin resistance|Glycemia variation, association with,-	ICGC,
chr3	194091198	194091198	G	A	upstream	LRRC15	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr5	36770386	36770386	G	A	intergenic	SLC1A3,LOC646719	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	vision/eye phenotype,-	Increased glutmate transport|Episodic ataxia/hemiplegia/seizures|Episodic ataxia  6,-	ICGC,
chr6	116442785	116442785	C	G	exonic	COL10A1	nonsynonymous	SNV	0.0	1.0	-	-	-	-	-	-	-	COSM1672697	-	-	-	-	mortality/aging	Metaphyseal chondrodysplasia, Schmid	COSMIC,
chr7	98403721	98403721	G	A	intergenic	NPTX2,TMEM130	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	vision/eye phenotype,-	-,-	ICGC,
chr5	61356343	61356343	C	T	intergenic	LOC100506526,KIF2A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Malformation of cortical development	ICGC,
chr2	88469697	88469697	G	A	upstream	THNSL2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr20	41471366	41471366	T	G	intronic	PTPRT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	homeostasis/metabolism phenotype	Intellectual disability, behavioural problems, microcephaly & cardiac defect|Attention deficit hyperactivity disorder 	ICGC,
chr2	104691215	104691215	A	G	intergenic	TMEM182,LOC100287010	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15908672	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	COSMIC,ICGC,
chr14	93393766	93393766	A	G	intronic	CHGA	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27229445	-	BTCA-SG|1|71|0.01408	-	-	mortality/aging	Reduced diastolic blood pressure, association with|Increased plasma glucose levels|Increased glucose uptake inhibition|Increased functional potency|Hypertension, association with|Cardiometabolic risk traits, association with|Altered processing by plasmin	COSMIC,ICGC,
chr6	41797391	41797391	A	G	intronic	USP49	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23434956	-	EOPC-DE|1|202|0.00495	-	-	-	Potential protein deficiency	COSMIC,ICGC,
chr2	161856661	161856661	A	G	intergenic	RBMS1,TANK	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,mortality/aging	-,-	ICGC,
chr7	106958510	106958510	G	T	intronic	COG5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	Congenital disorders of glycosylation	ICGC,
chr4	164277653	164277656	TCTT	-	intergenic	NPY5R,TKTL2	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	behavior/neurological phenotype,-	-,-	ICGC,
chr5	101524114	101524114	C	T	intergenic	ST8SIA4,SLCO4C1	unknown	SNV	-	-	-	3.246e-05	rs571949176	-	0.000199681	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	-,-	ICGC,
chr11	76796077	76796077	G	A	exonic	CAPN5	nonsynonymous	SNV	0.352	0.488	0.0012	0.0008	rs185836777	0.0012	0.00319489	7.7e-05	-	COSM1580642	-	-	-	-	mortality/aging	Schizophrenia|Vitreoretinopathy, neovascular inflammatory	COSMIC,
chr1	82521607	82521607	G	T	intergenic	LPHN2,LINC01361	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-UK|1|140|0.00714	-	-	mortality/aging,-	Schizophrenia,-	ICGC,
chr17	54112377	54112377	C	T	intergenic	PCTP,ANKFN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	immune system phenotype,-	-,-	ICGC,
chr4	1799490	1799490	G	T	intronic	FGFR3	unknown	SNV	-	-	-	0.1452	rs3135859	-	0.123003	-	0.087	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype	Muenke syndrome|Muencke syndrome with cleft lip and palate.|Lacrimo-auriculo-dento-digital syndrome|Keratinocytic epidermal naevus syndrome|Hypochondroplasia and acanthosis nigricans|Muenke syndrome with multiple osteochondromas|Muenke syndrome.|Phenotypic variability in identical twins|SADDAN syndrome|Skeletal dysplasia|Thanatophoric dwarfism|Thanatophoric dysplasia|Thanatophoric dysplasia.|Hypochondroplasia|Epidermal nevi syndrome with oral mucosa involvement|Acanthosis nigricans|Acanthosis nigricans, hypochondroplasia and hyperinsulinaemia|Achondroplasia|Achondroplasia / thanatophoric dysplasia overlap|Achondroplasia with developmental delay & acanthosis nigricans|Achondroplasia with multiple-suture craniosynostosis|Brachycephaly, nonsyndromic|Camptodactyly, tall stature and hearing loss syndrome|Cleft lip and palate|Craniosynostosis|Crouzon syndrome|Crouzon syndrome with acanthosis nigricans|Crouzon syndrome.	ICGC,
chr3	169893041	169893041	C	A	intronic	PHC3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr9	5082257	5082257	G	A	intronic	JAK2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	integument phenotype	Myeloproliferative neoplasms|Polycythaemia  |Thrombocytosis	ICGC,
chr8	17662505	17662505	A	T	intergenic	MTUS1,FGL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,homeostasis/metabolism phenotype	Breast cancer, decreased risk, association with,-	ICGC,
chr1	223810176	223810176	G	A	intronic	CAPN8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	digestive/alimentary phenotype	-	ICGC,
chr16	6856978	6856978	G	A	intronic	RBFOX1	unknown	SNV	-	-	-	3.288e-05	rs377196417	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	mortality/aging	Muscular and feet abnormalities|Mental retardation|Epilepsy, rolandic  |Epilepsy|Developmental delay, facial dysmorphism  |Developmental delay and transposition of the great arteries|Developmental delay and diplegia|Developmental delay and craniosynostosis|Developmental delay  |Cardiac defects|Cardiac abnormalities, micrognathia and scoliosis|Autism spectrum disorder|Autism|Attention deficit hyperactivity disorder 	ICGC,
chr14	95950995	95950995	T	C	intergenic	SYNE3,SNHG10	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1667106	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr2	207667554	207667554	G	A	intergenic	FASTKD2,CPO	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	Cytochrome c oxidase deficiency,-	ICGC,
chr4	20281633	20281633	G	T	intronic	SLIT2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2017615	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging	Schizophrenia  	COSMIC,ICGC,
chr5	156199170	156199170	C	T	intergenic	SGCD,PPP1R2P3	unknown	SNV	-	-	-	6.459e-05	rs751811375	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging,-	Muscular dystrophy, limb girdle 2F|Muscular dystrophy, limb girdle 2 |Muscular dystrophy, limb girdle|Cardiomyopathy, dilated|Anorectal malformation,-	ICGC,
chr20	33465719	33465719	-	AGATAGATAGAG	intronic	ACSS2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	-	ICGC,
chr5	23641334	23641334	C	T	intergenic	PRDM9,CDH10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	reproductive system phenotype,-	Altered meiotic recombination hotspot usage|Azoospermia by meiotic arrest, association with |Azoospermia, non-obstructive ,-	ICGC,
chr2	136766526	136766526	C	T	intergenic	LOC101928243,CXCR4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,WHIM syndrome	ICGC,
chr8	12383685	12383685	C	T	ncRNA_intronic	LOC100506990	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24110168	-	BRCA-FR|1|72|0.01389	-	-	-	-	COSMIC,ICGC,
chr9	125424448	125424448	C	T	exonic	OR1L1	nonsynonymous	SNV	1.0	0.04	4.063e-06	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr2	101293359	101293359	C	T	intergenic	PDCL3,NPAS2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6149190	-	LIRI-JP|1|258|0.00388	-	-	-,behavior/neurological phenotype	-,Seasonal affective disorder, association with|Non-Hodgkin's lymphoma, reduced risk, association with|Lower testosterone levels|Breast cancer, increased risk, association with|Altered expression	COSMIC,ICGC,
chr6	120090791	120090791	C	G	intergenic	LOC285762,TBC1D32	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,Oro-facio-digital syndrome type IX	ICGC,
chr21	31899770	31899770	C	T	intergenic	KRTAP19-5,KRTAP19-6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	29628509	29628509	G	A	intronic	ALK	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	Medulloblastoma |Neuroblastoma	ICGC,
chr4	24588068	24588068	T	G	intergenic	DHX15,SOD3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,mortality/aging	Potential protein deficiency,Preeclampsia severity, association with|Pre-eclampsia with severe foetal growth restriction, association with|Lower values of blood pressure, association|Elevated extracellular SOD, association|Diabetes, type 2, association with|Altered lung function, association with	ICGC,
chr5	83490345	83490345	C	T	intronic	EDIL3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8230014	-	PACA-CA|1|268|0.00373	-	-	immune system phenotype	Schizophrenia  	COSMIC,ICGC,
chr8	5399800	5399800	T	G	intergenic	CSMD1,LOC100287015	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	Schizophrenia, association with |Hyperinsulinism|Autism|Attention deficit hyperactivity disorder ,-	ICGC,
chr3	168218975	168218975	-	TA	ncRNA_intronic	EGFEM1P	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|4|100|0.04000	-	-	-	-	ICGC,
chr2	126427528	126427528	T	G	intergenic	CNTNAP5,GYPC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	Autism,Glycophorin C variant|Gerbich-negative blood group|Elliptocytosis|Duch blood group	ICGC,
chr19	48151947	48151947	T	G	intronic	GLTSCR1	unknown	SNV	-	-	-	0.0026	rs550006891	-	0.00119808	-	-	COSN25958993	-	ESAD-UK|1|301|0.00332	-	-	-	Oligodendroglioma development, association with	COSMIC,ICGC,
chr18	33115474	33115474	C	T	intergenic	INO80C,MIR3975	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	1405403	1405403	A	G	intronic	CNTN6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	Intellectual disability  	ICGC,
chrY	25315557	25315557	G	A	exonic	DAZ1,DAZ4	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM2150494	-	-	-	-	-,-	Oligozoospermia,-	COSMIC,
chr8	111301985	111301985	C	T	intergenic	KCNV1,CSMD3	unknown	SNV	-	-	-	3.264e-05	rs569467244	-	0.000199681	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,-	-,Schizophrenia  |Colorectal cancer 	ICGC,
chr7	67028970	67028970	A	T	intergenic	LINC01372,LOC102723427	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16894075	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	COSMIC,ICGC,
chr3	160395735	160395735	C	T	UTR3	ARL14	unknown	SNV	-	-	4.623e-06	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr13	78655620	78655620	C	A	ncRNA_intronic	RNF219-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24088856	-	ESAD-UK|1|301|0.00332,BRCA-FR|1|72|0.01389	-	-	-	-	COSMIC,ICGC,
chr2	100912922	100912922	C	T	intronic	LONRF2	unknown	SNV	-	-	-	3.23e-05	-	-	-	-	-	COSN24512974	-	GACA-CN|1|123|0.00813	-	-	-	-	COSMIC,ICGC,
chr10	82319719	82319719	G	A	intronic	SH2D4B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr7	145213199	145213199	T	G	intergenic	TPK1,CNTNAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	Thiamine pyrophosphokinase deficiency|Leigh-like disease|Colorectal cancer, increased risk, association with |Autism,Gilles de la Tourette syndrome|Intellectual disability  |Learning disability & speech problems|Mental retardation |Mental retardation, Pitt-Hopkins-like|Multiple congenital anomalies  |Seizures, neonatal |Speech delay  |Stuttering |Epileptic encephalopathy  |Epilepsy and schizophrenia|Autism|Autism spectrum disorder |Autism spectrum disorder, modifier of|Childhood apraxia of speech|Cortical dysplasia-focal epilepsy syndrome|Developmental and/or speech and/or behavioural problems|Developmental delay  |Developmental delay & dysmorphic features|Dyslexia 	ICGC,
chr1	168433063	168433063	A	G	intergenic	LOC100505918,XCL2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25864232	-	EOPC-DE|1|202|0.00495	-	-	-,-	-,-	COSMIC,ICGC,
chr6	14145759	14145759	C	A	intergenic	CD83,LINC01108	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21162071	-	BRCA-EU|1|569|0.00176	-	-	hematopoietic system phenotype,-	-,-	COSMIC,ICGC,
chr10	50665928	50665928	C	T	UTR3	ERCC6	unknown	SNV	-	-	-	0.0762	rs3750751	-	0.118011	-	0.116	-	-	-	Macular_degeneration|Cockayne_syndrome|Cerebrooculofacioskeletal_Syndrome	-	integument phenotype	UV-sensitive syndrome|Reduced chromosomal damage in coke oven workers, association with|Macular degeneration, age-related, association with|Lung cancer, reduced risk, association with|Colorectal cancer, increased risk, association with|Cockayne syndrome type II|Cockayne syndrome ?|Cockayne syndrome|Cerebro-oculo-facio-skeletal syndrome|Bladder cancer, increased risk, association with	ClinVar,
chr15	72947139	72947139	A	-	exonic	GOLGA6B	frameshift	deletion	-	-	-	-	-	-	-	-	-	-	KIPAN|1|799|0.00125,KIRP|1|282|0.00355	-	-	-	-	-	TCGA,
chr17	48970231	48970231	T	C	intergenic	TOB1-AS1,SPAG9	unknown	SNV	-	-	-	0.0003	rs867846863	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,integument phenotype	-,Schizophrenia	ICGC,
chr4	57735793	57735793	A	T	intergenic	SPINK2,REST	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	reproductive system phenotype,mortality/aging	-,Colorectal cancer, association with|Autism	ICGC,
chr18	48603147	48603147	G	A	splicing	SMAD4	splicing	SNV	-	-	-	-	rs377767387	-	-	-	-	COSM14179	-	-	Juvenile_polyposis/hereditary_hemorrhagic_telangiectasia_syndrome	-	integument phenotype	Pulmonary arterial hypertension|Myhre syndrome|Laryngotracheal stenosis, arthropathy, prognathism & short stature|Juvenile polyposis syndrome/Ménétrier's disease.|Juvenile polyposis syndrome with thoracic aortic disease|Juvenile polyposis syndrome|Juvenile polyposis coli|Juvenile polyposis and haemorrhagic telangiectasia|Haemorrhagic telangiectasia|Gastrointestinal polyposis|Breast cancer 	ClinVar,COSMIC,
chr15	62101152	62101152	C	T	intergenic	RORA,VPS13C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Obesity,Schizophrenia  	ICGC,
chr8	111950611	111950611	C	T	intergenic	KCNV1,CSMD3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22580097	-	BRCA-EU|1|569|0.00176	-	-	behavior/neurological phenotype,-	-,Schizophrenia  |Colorectal cancer 	COSMIC,ICGC,
chr4	146155273	146155273	G	A	intergenic	OTUD4,SMAD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	Autism spectrum disorder|Hypogonadotropic hypogonadism, ataxia & dementia,Pulmonary arterial hypertension	ICGC,
chr2	211919297	211919297	T	A	intergenic	CPS1,ERBB4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	mortality/aging,integument phenotype	VACTERL |Neonatal pulmonary hypertension, association with|Necrotizing enterocolitis, in preterm infants, association with|Hyperammonaemia, association with|Carbamoyl phosphate synthetase I deficiency|Altered Nitric oxide production and vascular smooth muscle reactivity|Altered glycine metabolism,Schizophrenia |Oligohydramnios|Intellectual disability, hyperactivity & speech developmental delay|Increased promoter activity|Hepatocellular carcinoma, increased risk, association with|Epileptic encephalopathy, early infantile 3|Breast and colorectal cancer, association with|Bipolar disorder, association with |Bipolar disorder |Autism spectrum disorder  |Amyotrophic lateral sclerosis type 19	ICGC,
chr7	15026497	15026497	T	A	intergenic	DGKB,AGMO	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	behavior/neurological phenotype,-	-,-	ICGC,
chr3	112929577	112929577	C	T	intergenic	LOC101929717,BOC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,mortality/aging	-,-	ICGC,
chr5	89901315	89901315	A	G	intronic	GPR98	unknown	SNV	-	-	-	0.2514	rs502596	-	0.18131	-	0.181	-	-	LAML-KR|1|205|0.00488	-	-	mortality/aging	Usher syndrome 3|Usher syndrome 2|Usher syndrome 1|Usher syndrome|Retinitis pigmentosa|Hearing loss, progressive  |Febrile and afebrile seizures|Deafness, non-syndromic|Deafness  |Autism	ICGC,
chr5	4370045	4370045	G	A	intergenic	IRX1,LOC101929153	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813,UTCA-FR|1|20|0.05000	-	-	-,-	-,-	ICGC,
chr5	112891014	112891014	T	G	intronic	YTHDC2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2060896	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr2	10628821	10628821	C	T	intergenic	LOC101929715,NOL10	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN14955401	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr8	12886093	12886093	T	C	UTR3	KIAA1456	unknown	SNV	-	-	-	0	-	-	-	-	0.036	COSN18867129	-	RECA-EU|2|422|0.00474	-	-	-	-	COSMIC,COSMIC,COSMIC,COSMIC,COSMIC,ICGC,
chr6	142763276	142763276	A	G	intronic	GPR126	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-UK|1|140|0.00714	-	-	mortality/aging	-	ICGC,
chr7	155131959	155131959	C	T	intergenic	INSIG1,BLACE	unknown	SNV	-	-	-	0.0079	rs115636675	-	0.00738818	-	0.007	-	-	COCA-CN|1|321|0.00312	-	-	mortality/aging,-	Higher plasma triglyceride level, association,-	ICGC,
chr20	9104366	9104366	G	A	intronic	PLCB4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Auriculocondylar syndrome	ICGC,
chr8	140448134	140448134	G	A	intergenic	COL22A1,KCNK9	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27047538	-	ESAD-UK|1|301|0.00332	-	-	-,respiratory system phenotype	-,Birk Barel mental retardation dysmorphism syndrome	COSMIC,ICGC,
chr6	96343281	96343281	C	G	intergenic	MANEA,FUT9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,normal phenotype	-,-	ICGC,
chr8	75662100	75662100	-	AAA	ncRNA_intronic	FLJ39080	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	-	ICGC,
chr1	98322348	98322348	C	T	intronic	DPYD	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5745806	-	LINC-JP|1|394|0.00254	-	-	-	Schizophrenia  |Reduced enzyme activity|Intellectual disability and autism|Intellectual disability  |Increased enzyme activity|Fluoropyrimidine-related toxicity, association with|Dihydropyrimidine dehydrogenase deficiency, partial|Dihydropyrimidine dehydrogenase deficiency|Autism spectrum disorder  	COSMIC,ICGC,
chr12	20924414	20924414	C	T	intergenic	SLCO1C1,SLCO1B3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	reproductive system phenotype,mortality/aging	Autism,Rotor syndrome|Decreased protein expression|Altered substrate specificity	ICGC,
chrX	93617407	93617407	G	A	intergenic	FAM133A,LOC643486	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	130461956	130461956	C	T	intergenic	C4orf33,LOC101927282	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr18	31004825	31004825	C	A	intronic	CCDC178	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr13	63702092	63702092	C	T	intergenic	LINC00448,LINC00395	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr13	102637989	102637989	G	A	intronic	FGF14	unknown	SNV	-	-	-	3.238e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	Cerebral ataxia, autosomal dominant	ICGC,
chr5	52258206	52258206	G	T	intergenic	ITGA1,ITGA2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	immune system phenotype,integument phenotype	-,Unstable angina pectoris, association with|Reduced transcription|Reduced platelet count nadir, association with.|Reduced colorectal cancer risk|Reduced collagen-induced aggregation|Oral cancer, association with|Myocardial infarction, association with|Glanzmann thrombasthenia, milder phenotype, association with|Fetal/neonatal alloimmune thrombocytopenia|Coronary artery disease, protection, association with|Alloimmune thrombocytopenia, neonatal, association with	ICGC,
chr2	216976244	216976244	-	A	intronic	XRCC5	unknown	insertion	-	-	-	0.0012	rs749444158	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	mortality/aging	Bladder cancer, increased risk, association with|Reduced expression	ICGC,
chr18	14010928	14010928	G	A	intergenic	MC2R,ZNF519	unknown	SNV	-	-	-	0.1782	rs531594990	-	-	-	-	COSN15099447	-	PBCA-US|2|186|0.01075	-	-	mortality/aging,-	Glucocorticoid deficiency without pigmentation|Glucocorticoid deficiency |Cushing syndrome|Androgen secretion, association with|Adrenal hypoplasia, salt-losing|ACTH responsiveness, association with|ACTH hypersensitivity syndrome,-	COSMIC,ICGC,
chr5	85467088	85467088	A	-	intergenic	EDIL3,NBPF22P	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	immune system phenotype,-	Schizophrenia  ,-	ICGC,
chr18	69351494	69351494	G	T	intergenic	LOC100505776,CBLN2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,behavior/neurological phenotype	-,-	ICGC,
chr12	41088070	41088070	G	A	intronic	CNTN1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17665180	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Myopathy, lethal congenital|Pancreatic cancer 	COSMIC,ICGC,
chr7	39245486	39245486	C	T	intronic	POU6F2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	normal phenotype	Wilms tumour 	ICGC,
chr5	129041697	129041697	T	G	intronic	ADAMTS19	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24583793	-	GACA-CN|1|123|0.00813	-	-	-	-	COSMIC,ICGC,
chr13	100974183	100974183	T	C	intronic	PCCA	unknown	SNV	-	-	-	0.3038	rs9513748	-	0.226438	-	0.210	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype	Propionic acidaemia	ICGC,
chr8	54823797	54823797	A	-	intronic	RGS20	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	PACA-AU|1|391|0.00256	-	-	-	-	ICGC,
chr19	20104172	20104172	-	A	intergenic	ZNF93,ZNF682	unknown	insertion	-	-	-	0.0618	rs200207582	-	-	-	-	-	-	PEME-CA|1|112|0.00893	-	-	-,-	-,-	ICGC,
chr7	15595111	15595111	G	C	intronic	AGMO	unknown	SNV	-	-	-	6.494e-05	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr2	53794488	53794488	C	A	intergenic	NONE,ASB3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr10	2833070	2833070	G	A	intergenic	LINC00701,PFKP	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr14	25927315	25927315	A	C	intergenic	STXBP6,NOVA1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,-	ICGC,
chr8	89060423	89060423	-	AGTAT	intronic	MMP16	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	mortality/aging	-	ICGC,
chr5	121004060	121004060	C	T	intergenic	LOC102467226,FTMT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,normal phenotype	-,Macular degeneration, age related	ICGC,
chr10	39100635	39100635	C	T	intergenic	ACTR3BP5,NONE	unknown	SNV	-	-	-	4.276e-05	rs544770280	-	0.000798722	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	16709597	16709597	C	T	intergenic	DAZL,PLCL2	unknown	SNV	-	-	-	-	rs538868696	-	0.000599042	-	-	-	-	ESAD-UK|1|301|0.00332,MALY-DE|1|241|0.00415	-	-	reproductive system phenotype,hematopoietic system phenotype	Azoospermia, association with|Ovarian failure|Premature ovarian failure|Spermatogenic failure, association with ,-	ICGC,
chr2	146070053	146070053	T	-	intergenic	TEX41,PABPC1P2	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	ICGC,
chr18	25540465	25540465	A	G	intronic	CDH2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5844293	-	LINC-JP|1|394|0.00254	-	-	mortality/aging	Reduced expression|Potential protein deficiency|Alzheimer disease  	COSMIC,ICGC,
chr7	32339371	32339371	T	G	upstream	PDE1C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	taste/olfaction phenotype	Developmental delay  	ICGC,
chr15	60988561	60988561	G	A	intronic	RORA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Obesity	ICGC,
chr9	672105	672105	C	A	intronic	KANK1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15343986	-	PRAD-UK|1|140|0.00714	-	-	-	Potential protein deficiency|Fasting proinsulin concentration, association with|Cerebral palsy|Autism spectrum disorder, motor delay & intellectual disability|Autism 	COSMIC,ICGC,
chr2	23340520	23340520	G	T	intergenic	LOC102723362,KLHL29	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20910417	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr2	70665030	70665030	A	C	intergenic	FAM136A,TGFA	unknown	SNV	-	-	-	0.0991	rs74484687	-	0.0617013	-	0.029	-	-	ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488	-	-	-,integument phenotype	-,-	ICGC,
chr17	67365483	67365483	A	T	intergenic	ABCA5,MAP2K6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,hematopoietic system phenotype	-,-	ICGC,
chr12	56503757	56503757	A	C	intronic	PA2G4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	reproductive system phenotype	-	ICGC,
chr13	89640558	89640558	C	A	intergenic	LINC00433,LINC00353	unknown	SNV	-	-	-	7.277e-05	-	-	-	-	-	COSN25668865	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	COSMIC,ICGC,
chr5	123692233	123692233	G	C	intergenic	CSNK1G3,ZNF608	unknown	SNV	-	-	-	0.1745	rs178603	-	0.102835	-	0.101	-	-	LAML-KR|1|205|0.00488	-	-	-,-	Potential protein deficiency,-	ICGC,
chr6	85366952	85366952	-	GCTCTCTC	intergenic	CEP162,TBX18	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,integument phenotype	-,Autism	ICGC,
chr12	99758208	99758208	T	C	intronic	ANKS1B	unknown	SNV	-	-	-	3.231e-05	rs148386173	-	0.000199681	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	Sertoli-cell-only syndrome|Schizophrenia  	ICGC,
chr11	122297028	122297028	C	T	intergenic	MIR100HG,UBASH3B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	9571864	9571864	G	A	intergenic	SNHG18,TAS2R1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-,-	-,-	ICGC,
chr6	83151853	83151853	C	T	intergenic	TPBG,UBE3D	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	-,-	ICGC,
chr19	51039086	51039086	G	A	intronic	LRRC4B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr11	63957726	63957726	A	G	intronic	STIP1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15687563	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr4	11324942	11324942	G	A	intergenic	CLNK,MIR572	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype,-	Immunodeficiency, common variable, association with,-	ICGC,
chr20	41426646	41426646	G	A	intronic	PTPRT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	homeostasis/metabolism phenotype	Intellectual disability, behavioural problems, microcephaly & cardiac defect|Attention deficit hyperactivity disorder 	ICGC,
chr4	174510315	174510315	G	A	intergenic	HAND2-AS1,FBXO8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	ICGC,
chr15	88461942	88461942	G	T	intronic	NTRK3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25456247	-	MALY-DE|1|241|0.00415	-	-	mortality/aging	Panic disorder, association with|Obsessive-compulsive disorder, association with|Autism spectrum disorder	COSMIC,ICGC,
chr15	20783399	20783399	T	C	intergenic	GOLGA8CP,NBEAP1	unknown	SNV	-	-	-	0.0004	rs375513501	-	-	-	-	COSN20648184	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr19	8009153	8009153	C	-	upstream	TIMM44	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-	Oncocytic thyroid carcinoma	ICGC,
chr17	41052584	41052584	G	A	upstream	G6PC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging	Chronic arthritis & uveitis|Glycogen storage disease 1a|Hypoglycaemia, association with	ICGC,
chr16	77028627	77028627	G	A	intergenic	MIR4719,MON1B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr10	111247643	111247643	G	T	intergenic	RNU6-53P,XPNPEP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	ICGC,
chr1	239534688	239534688	-	T	intergenic	LINC01139,CHRM3	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN22857201	-	-	-	-	-,vision/eye phenotype	-,Autistic disorder|Bladder malformation|Diabetes, type 2, increased risk, association |Tetralogy of Fallot	COSMIC,
chr21	9972023	9972023	T	C	intergenic	TEKT4P2,TPTE	unknown	SNV	-	-	-	0.0032	-	-	-	-	-	COSN23965889	-	LAML-KR|2|205|0.00976,LUSC-KR|1|170|0.00588	-	-	-,-	-,Potential protein deficiency	COSMIC,ICGC,
chr9	117128693	117128693	G	A	intronic	AKNA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr2	186672936	186672936	A	G	exonic	FSIP2	synonymous	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-	-	ICGC,
chr6	67928564	67928564	T	A	intergenic	SLC25A51P1,BAI3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN28067245	-	PRAD-CA|1|308|0.00325	-	-	-,-	-,-	COSMIC,ICGC,
chrX	94563077	94563077	A	G	intergenic	FAM133A,LOC643486	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	14178475	14178475	C	T	intronic	TMEM43	unknown	SNV	-	-	-	0.0044	rs188888379	-	0.000798722	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Potential protein deficiency|EDMD-related myopathy |Arrhythmogenic right ventricular dysplasia/cardiomyopathy |Arrhythmogenic right ventricular cardiomyopathy	ICGC,
chr11	42164487	42164487	A	T	intergenic	LOC102723644,LOC100507205	unknown	SNV	-	-	-	3.249e-05	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr9	26186580	26186580	C	T	intergenic	LOC100506422,CAAP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr6	57835537	57835537	G	A	intergenic	PRIM2,GUSBP4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	Potential protein deficiency,-	ICGC,
chr9	129321848	129321848	G	A	intergenic	MVB12B,LMX1B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Nail patella-like renal disease|Nail patella syndrome|Focal segmental glomerulosclerosis.|Focal segmental glomerulosclerosis 	ICGC,
chr9	13829098	13829098	C	T	intergenic	FLJ41200,LINC00583	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr21	14697971	14697971	C	T	intergenic	ANKRD30BP2,MIR3156-3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr12	68543240	68543240	G	A	intergenic	IFNG-AS1,IFNG	unknown	SNV	-	-	-	0.7164	rs6581793	-	0.768171	-	0.819	-	-	LAML-KR|1|205|0.00488	-	-	-,integument phenotype	-,Tuberculosis, susceptibility to, association with|Leprosy, protection against, association with|Lung allograft fibrosis, association with|Multiple sclerosis, susceptibility in men, association|Ossification of posterior longitudinal ligament, association with|Proliferative diabetic retinopathy, association with|Pulmonary tuberculosis, association with|Systemic lupus erythematosus, association with|Tuberculosis, increased risk, association with|Tuberculosis, pulmonary involvement, association with|Langerhans cell histiocytosis, mild phenotype|Increased transcription|Higher promoter activity|Acute coronary syndrome, association with.|Aplastic anaemia, association with|Atopy, association with|Cancer risk, association with|Cervical cancer|Cervical cancer, association with|Chagas disease, association with|Enterovirus 71 encephalitis, association with.|Graft-versus-host disease after allogeneic stem cell transplant|Hashimoto disease, severity, association with	ICGC,
chr5	164053490	164053490	C	T	intergenic	LOC102546299,NONE	unknown	SNV	-	-	-	-	rs770632724	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	33203926	33203926	A	C	intronic	LTBP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Increased expression |Autism	ICGC,
chr4	171943690	171943690	C	T	intergenic	AADAT,LOC100506122	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	vision/eye phenotype,-	-,-	ICGC,
chr4	35690366	35690366	G	A	intergenic	NONE,ARAP2	unknown	SNV	-	-	-	0.0013	rs549325280	-	0.000199681	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr5	144359554	144359554	T	G	intergenic	KCTD16,PRELID2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23739951	-	ORCA-IN|1|178|0.00562	-	-	-,-	-,-	COSMIC,ICGC,
chr1	158809174	158809174	C	T	intronic	MNDA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr12	47472218	47472218	T	A	exonic	AMIGO2	stopgain	SNV	-	-	-	-	-	-	-	-	-	COSM4150103	-	OV-AU|1|93|0.01075	-	-	-	-	COSMIC,ICGC,
chr18	76145737	76145737	C	T	intergenic	LINC01029,SALL3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,-	ICGC,
chr11	109507510	109507510	G	A	intergenic	C11orf87,ZC3H12C	unknown	SNV	-	-	-	-	rs562299715	-	0.000199681	-	-	COSN25274477	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	COSMIC,ICGC,
chr17	30952046	30952046	T	C	intronic	MYO1D	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-	-	ICGC,
chr13	104131899	104131899	G	A	intergenic	MIR548AS,DAOA-AS1	unknown	SNV	-	-	-	3.239e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	154386548	154386548	C	A	intergenic	RPRM,GALNT13	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,normal phenotype	-,-	ICGC,
chr3	59908705	59908705	G	C	intronic	FHIT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	-	ICGC,
chr13	45191815	45191815	C	T	intergenic	TSC22D1-AS1,LINC00330	unknown	SNV	-	-	-	-	rs74958061	-	0.000199681	-	-	-	-	LAML-KR|1|205|0.00488	-	-	-,-	-,-	ICGC,
chr10	100785239	100785239	A	C	intronic	HPSE2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Urofacial syndrome	ICGC,
chr11	94379249	94379249	C	T	intergenic	PIWIL4,AMOTL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	reproductive system phenotype,cellular phenotype	Autism,-	ICGC,
chr16	2492898	2492898	A	G	intronic	CCNF	unknown	SNV	-	-	-	0.0008	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging	-	ICGC,
chr2	215153934	215153934	G	A	intronic	SPAG16	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	reproductive system phenotype	Instability of central apparatus proteins	ICGC,
chr6	22783824	22783824	T	G	intergenic	HDGFL1,NRSN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	ICGC,
chr13	33282836	33282836	G	A	intronic	PDS5B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	integument phenotype	-	ICGC,
chr5	179043849	179043849	A	-	intronic	HNRNPH1	unknown	deletion	-	-	-	-	-	-	-	-	-	COSN26979113	-	COCA-CN|1|321|0.00312,GACA-JP|1|585|0.00171	-	-	-	-	COSMIC,COSMIC,COSMIC,ICGC,
chr6	62896924	62896924	C	T	intronic	KHDRBS2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr14	95146730	95146730	A	T	intergenic	SERPINA13P,GSC	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16732775	-	PAEN-IT|1|37|0.02703	-	-	-,integument phenotype	-,Microtia |Short stature, auditory canal atresia, mandibular hypoplasia and skeletal abnormalities	COSMIC,COSMIC,ICGC,
chr11	60320174	60320174	T	A	intergenic	MS4A13,LINC00301	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr2	194818674	194818674	A	T	intergenic	PCGEM1,LOC101927406	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr8	1440767	1440767	C	A	intergenic	LOC286083,DLGAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,Autism spectrum disorder  	ICGC,
chr18	35332716	35332716	T	G	intergenic	MIR4318,LINC00669	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr11	50430688	50430688	C	T	intergenic	LOC646813,OR4A5	unknown	SNV	-	-	-	0.6357	rs510786	-	0.690895	-	0.609	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr8	79112789	79112789	T	C	intergenic	PEX2,PKIA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	mortality/aging,normal phenotype	Zellweger syndrome|Refsum disease, infantile|Peroxisome biogenesis disorder|Cerebellar ataxia, autosomal recessive,-	ICGC,
chr5	13090082	13090082	A	T	intergenic	LINC01194,DNAH5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Asthenozoospermia |Autism |Chronic rhinosinusitis and primary ciliary dyskinesia|Potential protein deficiency|Primary ciliary dyskinesia	ICGC,
chr2	89834059	89834059	C	A	intergenic	MIR4436A,LOC654342	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-UK|1|140|0.00714	-	-	-,-	-,-	ICGC,
chr3	109054306	109054306	C	T	intronic	DPPA4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22327363	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging	-	COSMIC,ICGC,
chr1	168077413	168077413	A	C	intronic	GPR161	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	-	ICGC,
chr5	25479597	25479597	A	C	intergenic	LOC340107,CDH9	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7931914	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	COSMIC,ICGC,
chr9	24883703	24883703	C	T	intergenic	IZUMO3,TUSC1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	ICGC,
chr2	152876999	152876999	G	A	intronic	CACNB4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Idiopathic epilepsy, generalised|Myoclonic epilepsy, juvenile|Schizophrenia  |Seizures, increased risk	ICGC,
chr13	92345744	92345744	G	A	exonic	GPC5	nonsynonymous	SNV	0.984	0.001	4.072e-06	-	-	-	-	-	-	COSM3469939	SKCM|1|368|0.00272	SKCM-US|1|335|0.00299	-	-	-	Spina bifida  	COSMIC,TCGA,ICGC,
chr2	159674431	159674431	T	C	intergenic	DAPL1,TANC1	unknown	SNV	-	-	-	0.3342	rs10168849	-	0.267173	-	0.304	-	-	ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488	-	-	-,behavior/neurological phenotype	-,Schizophrenia	ICGC,
chr12	40762527	40762527	C	T	UTR3	LRRK2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype	Rheumatoid arthritis|Restless leg syndrome.|Potential protein deficiency|Postural instability and gait difficulty, in Parkinson disease|Parkinson disease, reduced risk, association with|Parkinson disease, association with|Parkinson disease |Parkinson and alzheimer disease|Multiple sclerosis|Dyslipidaemia|Concomitant non-skin cancer|Cancer, increased risk, association with|Alzheimer's disease, association with	ICGC,
chr9	27237967	27237967	T	C	intergenic	TEK,LINC00032	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	mortality/aging,-	Venous malformation|Cutaneomucosal venous malformation,-	ICGC,
chr1	191416056	191416056	C	T	intergenic	LOC440704,RGS18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,no phenotypic analysis	-,Potential protein deficiency	ICGC,
chr1	216838158	216838158	T	G	intronic	ESRRG	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Breast cancer, association with 	ICGC,
chr6	64656356	64656356	G	A	intronic	EYS	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9801638	-	OV-AU|1|93|0.01075	-	-	-	Cone-rod dystrophy, autosomal recessive.|Leber congenital amaurosis|Retinitis pigmentosa|Retinitis pigmentosa, autosomal recessive |Retinitis pigmentosa, autosomal recessive/Leber congenital amaurosis	COSMIC,ICGC,
chr14	29321604	29321604	A	-	intergenic	C14orf23,MIR548AI	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr10	5680265	5680265	G	A	downstream	ASB13	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr7	99875427	99875427	C	G	intergenic	GATS,SPDYE3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20709924	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr10	42528483	42528483	G	A	intergenic	NONE,LOC441666	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr16	7121846	7121846	C	T	intronic	RBFOX1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging	Muscular and feet abnormalities|Mental retardation|Epilepsy, rolandic  |Epilepsy|Developmental delay, facial dysmorphism  |Developmental delay and transposition of the great arteries|Developmental delay and diplegia|Developmental delay and craniosynostosis|Developmental delay  |Cardiac defects|Cardiac abnormalities, micrognathia and scoliosis|Autism spectrum disorder|Autism|Attention deficit hyperactivity disorder 	ICGC,
chr2	236877066	236877067	AT	-	intronic	AGAP1	unknown	deletion	-	-	0.0003	-	rs796683258	0.0003	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr12	82074639	82074639	A	T	intronic	PPFIA2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22298663	-	BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr15	90543790	90543790	C	G	upstream	ZNF710	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17214347	-	PACA-CA|1|268|0.00373	-	-	-	-	COSMIC,ICGC,
chr10	19405287	19405287	C	T	intronic	MALRD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr12	38175744	38175744	G	A	intergenic	NONE,ALG10B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Acquired long QT syndrome, protection against, association|Acquired long QT syndrome	ICGC,
chr2	231922788	231922788	G	C	intronic	PSMD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	-	ICGC,
chr4	142626253	142626253	C	T	intronic	IL15	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	-	ICGC,
chr21	17358714	17358714	G	A	intergenic	USP25,LINC00478	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype,-	-,-	ICGC,
chr10	78059525	78059525	G	T	intronic	C10orf11	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	Albinism, autosomal recessive|Mental retardation 	ICGC,
chr20	11578493	11578493	G	T	intergenic	LOC339593,LINC00687	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25916819	-	EOPC-DE|1|202|0.00495	-	-	-,-	-,-	COSMIC,ICGC,
chr2	37741910	37741910	A	C	intergenic	QPCT,CDC42EP3	unknown	SNV	-	-	-	0	-	-	-	-	-	COSN17122545	-	-	-	-	other phenotype,-	-,-	COSMIC,
chr11	2446846	2446846	-	CCCTGGGCGGAAGTCCTCA	intergenic	TRPM5,KCNQ1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	hematopoietic system phenotype,behavior/neurological phenotype	-,QT interval prolongation|Noise-induced hearing loss, susceptibility to, association|Long QT syndrome.|Long QT syndrome, modifier of|Long QT syndrome & atrial fibrillation|Long QT syndrome|Jervell and Lange-Nielsen syndrome.|Reduced triglyceride levels, association with|Romano-Ward and incomplete Jervell Lange-Nielsen syndromes|Romano-Ward syndrome|Short QT syndrome|Short QT syndrome.|Sinus bradycardia, familial atrial fibrillation and long QT syndrome.|Stressful life events associated with arrhythmic events in LQTS p|Sudden infant death syndrome|Sudden unexplained death  |Jervell and Lange-Nielsen syndrome without sensorineural deafness|Jervell and Lange-Nielsen syndrome|Altered channel function|Atrial fibrillation|Atrial fibrillation and bradycardia|Atrial fibrillation and Long QT syndrome.|Atrial fibrillation, lone, early-onset|Atrial fibrillation, lone, early-onset.|Atrial fibrillation, susceptibility to |Atrial fibrillation.|Beckwith-Wiedemann syndrome|Increased risk of unexplained sudden death in patients administered psychotropic drug therapy|Hyperinsulinaemia and symptomatic hypoglycaemia, with long QT syndrome.|Diabetes, type 2, increased risk, association  |Deafness  |Cardiomyopathy, hypertrophic.|Cardiac defects|Beckwith-Wiedemann syndrome & long QT syndrome	ICGC,
chr10	28997194	28997194	G	A	intergenic	BAMBI,LOC101929218	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	integument phenotype,-	-,-	ICGC,
chr3	60128006	60128006	A	C	intronic	FHIT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype	-	ICGC,
chr8	635047	635047	G	A	intronic	ERICH1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr8	77896091	77896091	A	G	exonic	PEX2	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM454865	BRCA|1|982|0.00102	BRCA-US|1|955|0.00105	-	-	mortality/aging	Zellweger syndrome|Refsum disease, infantile|Peroxisome biogenesis disorder|Cerebellar ataxia, autosomal recessive	COSMIC,TCGA,ICGC,
chr3	36513279	36513279	C	T	intronic	STAC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr3	156656404	156656404	C	T	intronic	LEKR1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24112819	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	-	-	COSMIC,COSMIC,ICGC,
chr5	153500469	153500469	A	-	intergenic	MFAP3,GALNT10	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,normal phenotype	-,-	ICGC,
chr10	127254403	127254403	C	A	intergenic	CTBP2,TEX36-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1475459	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging,-	-,-	COSMIC,ICGC,
chr4	70099033	70099033	C	T	intergenic	UGT2B11,UGT2B28	unknown	SNV	-	-	-	0.0002	rs180835735	-	0.000399361	-	-	COSN16778484	-	PACA-CA|1|268|0.00373	-	-	-,-	-,Null allele|Circulating steroid levels, association with	COSMIC,ICGC,
chr15	94121750	94121750	G	A	intergenic	RGMA,LOC101927153	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Autism,-	ICGC,
chr8	5399771	5399771	G	A	intergenic	CSMD1,LOC100287015	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-,-	Schizophrenia, association with |Hyperinsulinism|Autism|Attention deficit hyperactivity disorder ,-	ICGC,
chr11	70590279	70590279	C	T	intronic	SHANK2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27398018	-	BTCA-SG|1|71|0.01408	-	-	mortality/aging	Autism|Autism spectrum disorder |Intellectual disability and language impairment|Mental retardation |Mental retardation, speech / developmental delay & facial features	COSMIC,ICGC,
chr21	10767959	10767959	G	C	intergenic	TEKT4P2,TPTE	unknown	SNV	-	-	-	-	rs528757146	-	0.0227636	-	-	COSN17891813	-	SKCA-BR|1|100|0.01000,PBCA-US|1|186|0.00538	-	-	-,-	-,Potential protein deficiency	COSMIC,ICGC,
chr8	144119329	144119329	G	A	intergenic	LY6E,C8orf31	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20129880	-	PACA-CA|1|268|0.00373	-	-	mortality/aging,-	-,-	COSMIC,ICGC,
chr2	109664285	109664285	C	T	intergenic	EDAR,SH3RF3-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Shovel-shaped incisors, association |Sstraight hair, in Asians, association with|Tooth agenesis  |Tooth agenesis.|Tooth crown size and hypoconulids, association with|Increased hair thickness, in Asians, association with|Hypohidrotic ectodermal dysplasia, protection against, association with |Ectodermal dysplasia, hypohidrotic.|Ectodermal dysplasia, hypohidrotic with bilateral amastia & palmoplantar hyperkeratosis|Ectodermal dysplasia, hypohidrotic|Ectodermal dysplasia, anhydrotic|Ectodermal dysplasia,-	ICGC,
chr15	63393129	63393129	C	T	intergenic	TPM1,LACTB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Potential protein deficiency|Cardiomyopathy, restrictive|Cardiomyopathy, non-compaction, left ventricular|Cardiomyopathy, left-ventricular noncompaction|Cardiomyopathy, hypertrophic|Cardiomyopathy, dilated non-compaction|Cardiomyopathy, dilated,-	ICGC,
chr2	6873685	6873685	G	C	ncRNA_intronic	LINC00487	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19171444	-	CLLE-ES|1|510|0.00196	-	-	-	-	COSMIC,ICGC,
chrX	28591791	28591791	C	A	intergenic	MIR6134,IL1RAPL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,nervous system phenotype	-,Mental retardation, X-linked|Mental retardation with dysmorphic features|Mental retardation and autism|Intellectual disability, X-linked with dysmorphism|Intellectual disability, X-linked|Intellectual disability, dysmorphic signs, deafness & behavioural problems|Intellectual disability & behavioural problems|Developmental delay, learning disability & microcephaly|Autism spectrum disorder  |Asperger syndrome	ICGC,
chr12	33740428	33740428	G	A	intergenic	SYT10,ALG10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,-	-,-	ICGC,
chr2	193064260	193064260	T	G	intergenic	TMEFF2,PCGEM1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	mortality/aging,-	-,-	ICGC,
chr1	862397	862397	G	A	intronic	SAMD11	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-	Potential protein deficiency	ICGC,
chr3	117902345	117902345	C	A	intergenic	LINC00901,IGSF11	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr8	40094500	40094500	A	G	intergenic	C8orf4,ZMAT4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	163651636	163651636	G	T	intergenic	LINC01192,SI	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,Sucrase isomaltase deficiency	ICGC,
chr3	145821098	145821098	T	G	intronic	PLOD2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	Bruck syndrome	ICGC,
chr1	238494106	238494106	G	A	intergenic	LOC100130331,LINC01139	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN14616456	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	COSMIC,ICGC,
chr22	49443831	49443831	G	A	intergenic	LINC01310,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr4	40069138	40069138	C	A	intronic	N4BP2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5060428	-	LINC-JP|1|394|0.00254	-	-	-	-	COSMIC,ICGC,
chr9	135537689	135537689	T	C	exonic	DDX31	nonsynonymous	SNV	0.26	0.992	-	-	-	-	-	-	-	COSM3655134	SKCM|1|368|0.00272	SKCM-US|1|335|0.00299	-	-	-	-	COSMIC,COSMIC,COSMIC,TCGA,ICGC,
chr1	67283965	67283965	T	A	intronic	WDR78	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-	-	ICGC,
chr2	48350045	48350045	A	G	intergenic	FBXO11,FOXN2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	-,-	ICGC,
chr19	56089943	56089943	C	A	exonic	ZNF579	nonsynonymous	SNV	0.89	0.673	-	-	-	-	-	-	-	COSM714619	LUSC|1|178|0.00562	LUSC-US|1|194|0.00515	-	-	-	-	COSMIC,TCGA,ICGC,
chr7	34284842	34284842	A	C	intergenic	BMPER,NPSR1-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging,-	Diaphanospondylodysostosis,-	ICGC,
chr9	82553105	82553105	G	A	ncRNA_intronic	LOC101927477	unknown	SNV	-	-	-	0.0002	-	-	-	-	-	COSN20419976	-	COCA-CN|1|321|0.00312	-	-	-	-	COSMIC,ICGC,
chr1	119809260	119809260	G	C	intergenic	WARS2,HAO2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16162168	-	PRAD-CA|1|308|0.00325	-	-	-,-	-,-	COSMIC,ICGC,
chr6	33091148	33091148	C	T	ncRNA_intronic	HLA-DPB2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16421201	-	LIRI-JP|1|258|0.00388	-	-	-	Myocardial infarction, association with	COSMIC,ICGC,
chr5	28524266	28524266	A	T	intergenic	LINC01021,LSP1P3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr11	54968369	54968369	C	T	intergenic	NONE,TRIM48	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr5	143213231	143213231	A	T	intergenic	HMHB1,YIPF5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr5	16130709	16130709	A	G	intronic	MARCH11	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr2	117052016	117052016	G	A	intergenic	DPP10,DDX18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Autism spectrum disorder,-	ICGC,
chr12	46244016	46244016	C	T	exonic	ARID2	stopgain	SNV	-	-	-	-	-	-	-	-	-	COSM3710884	DLBC|1|48|0.02083	ORCA-IN|1|178|0.00562	-	-	mortality/aging	Schizophrenia	COSMIC,TCGA,ICGC,
chr1	188327442	188327442	C	T	intergenic	PLA2G4A,BRINP3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Asthma, association with|Cryptogenic multifocal ulcerating stenosing enteritis|Increased enzyme activity|Prostanoid biosynthesis deficiency,-	ICGC,
chr4	174621205	174621205	G	A	intergenic	HAND2-AS1,FBXO8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	200769561	200769561	T	-	intronic	CAMSAP2	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	-	-	ICGC,
chr1	203555708	203555708	G	A	intergenic	OPTC,ATP2B4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	vision/eye phenotype,reproductive system phenotype	Glaucoma, primary open angle, association with|Glaucoma, primary open angle,Schizophrenia  |Autism	ICGC,
chr2	182429149	182429149	G	C	intronic	CERKL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	vision/eye phenotype	Retinitis pigmentosa|Retinal degeneration|Cone-rod dystrophy	ICGC,
chr19	7742607	7742607	G	T	exonic	MCEMP1	nonsynonymous	SNV	0.05	0.986	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr18	32679221	32679221	C	G	intronic	MAPRE2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7356574	-	PACA-AU|1|391|0.00256	-	-	-	-	COSMIC,ICGC,
chr14	99614805	99614805	C	T	intergenic	C14orf177,BCL11B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,-	ICGC,
chr6	79058732	79058732	G	A	intergenic	MEI4,IRAK1BP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,no phenotypic analysis	-,-	ICGC,
chr8	58479296	58479296	C	T	intergenic	LINC00588,FAM110B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	116448284	116448284	C	T	intergenic	LOC102467223,LINC00992	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	ICGC,
chr10	55893164	55893164	G	A	intronic	PCDH15	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	vision/eye phenotype	Usher syndrome II|Usher syndrome 1f|Usher syndrome 1|Lipid levels in hyperlipidaemia, association with|Hearing loss, non-syndromic|Deafness, non-syndromic, autosomal recessive|Deafness, non-syndromic |Deafness  	ICGC,
chr5	40707431	40707431	G	A	intergenic	PTGER4,TTC33	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Crohn's disease, association with ,-	ICGC,
chr4	133808458	133808458	A	C	intergenic	NONE,PCDH10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,mortality/aging	-,Schizophrenia|Potential protein deficiency	ICGC,
chr5	132730346	132730346	G	A	intronic	FSTL4	unknown	SNV	-	-	-	0.0110	rs114900024	-	0.0071885	-	-	COSN27081020	-	ESAD-UK|1|301|0.00332	-	-	normal phenotype	Saccular intracranial aneurysm, association with|Tetralogy of Fallot	COSMIC,ICGC,
chr1	115520665	115520665	C	T	intronic	SYCP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	reproductive system phenotype	-	ICGC,
chr7	145728297	145728297	G	T	intergenic	TPK1,CNTNAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	-,integument phenotype	Thiamine pyrophosphokinase deficiency|Leigh-like disease|Colorectal cancer, increased risk, association with |Autism,Gilles de la Tourette syndrome|Intellectual disability  |Learning disability & speech problems|Mental retardation |Mental retardation, Pitt-Hopkins-like|Multiple congenital anomalies  |Seizures, neonatal |Speech delay  |Stuttering |Epileptic encephalopathy  |Epilepsy and schizophrenia|Autism|Autism spectrum disorder |Autism spectrum disorder, modifier of|Childhood apraxia of speech|Cortical dysplasia-focal epilepsy syndrome|Developmental and/or speech and/or behavioural problems|Developmental delay  |Developmental delay & dysmorphic features|Dyslexia 	ICGC,
chr8	76274688	76274688	C	T	intergenic	CASC9,HNF4G	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|3|183|0.01639	-	-	-,respiratory system phenotype	-,-	ICGC,
chr12	125834096	125834096	T	C	exonic	TMEM132B	nonsynonymous	SNV	0.086	1.0	-	-	-	-	-	-	-	-	TGCT|1|155|0.00645	-	-	-	-	-	TCGA,
chr7	124721209	124721209	CC	TT	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr10	70306527	70306527	G	A	intergenic	SLC25A16,TET1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,hematopoietic system phenotype	-,Autism	ICGC,
chr4	114791390	114791390	T	C	intergenic	CAMK2D,ARSJ	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	cardiovascular system phenotype,-	Hyperinsulism,-	ICGC,
chr10	122766019	122766019	C	T	ncRNA_intronic	MIR5694	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr7	152577994	152577994	T	C	intergenic	ACTR3B,DPP6	unknown	SNV	-	-	-	0.3368	rs13239538	-	0.282348	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,nervous system phenotype	-,Autism spectrum disorder  |Schizophrenia  |Ventricular fibrillation, idiopathic 	ICGC,
chr5	16079177	16079177	A	-	intronic	MARCH11	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr22	36548645	36548645	G	T	intronic	APOL3	unknown	SNV	-	-	-	6.458e-05	rs548002460	-	0.000599042	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	-	Potential protein deficiency	ICGC,
chr16	1810516	1810516	GG	TT	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	LUSC|1|178|0.00562	-	-	-	-	-	TCGA,
chr11	107465599	107465599	T	C	intronic	ELMOD1	unknown	SNV	-	-	-	0.1170	rs12577893	-	0.132188	-	0.138	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype	-	ICGC,
chr1	76658542	76658542	C	T	intronic	ST6GALNAC3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr7	5111929	5111929	G	A	ncRNA_intronic	RBAKDN	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-	-	ICGC,
chr9	87471146	87471146	G	C	intronic	NTRK2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CN|1|65|0.01538	-	-	mortality/aging	Anxiety-related traits, association with|Obesity, hyperphagia, and developmental delay	ICGC,
chr2	21993313	21993313	C	A	intergenic	LOC645949,LOC102723362	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr1	80554626	80554626	T	C	intergenic	ELTD1,LPHN2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	normal phenotype,mortality/aging	-,Schizophrenia	ICGC,
chr3	142423318	142423318	G	T	exonic	PLS1	nonsynonymous	SNV	0.124	0.984	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr5	111261927	111261927	G	A	ncRNA_intronic	NREP-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr7	29099322	29099322	A	T	intronic	CPVL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	mortality/aging	-	ICGC,
chr1	225133522	225133522	C	T	intronic	DNAH14	unknown	SNV	-	-	-	0.0062	rs138867786	-	0.0197684	-	0.014	COSN18393196	-	SKCA-BR|1|100|0.01000	-	-	-	Potential protein deficiency	COSMIC,ICGC,
chr3	20259672	20259672	T	G	intergenic	SGOL1-AS1,LOC101927829	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr10	124407682	124407682	A	T	intergenic	DMBT1,C10orf120	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22261188	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging,-	Crohn's disease, increased risk, association with|Breast cancer, increased risk, association with,-	COSMIC,ICGC,
chr15	32390368	32390368	G	A	intronic	CHRNA7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	P50 inhibitory defect, association with|P50 inhibitory defect, protection against, association with|Personality disorder |Reduced receptor activity|Schizophrenia|Seizures |Seizures, mental retardation, macrocytosis & retinal dysfunction|Speech & learning problems with autism|Mental retardation, seizures & dysmorphism|Encephalopathy with seizures & hypotonia|15q13.3 microdeletion syndrome|Attention deficit hyperactivity disorder & obsessive compulsive disorder|Autism|Autism spectrum disorder  |Congenital blindness & convulsive encephalopathy|Developmental delay  |Developmental delay, hypotonia, visual impairment & seizures|Developmental delay, mental retardation and seizures	ICGC,
chr3	63075258	63075258	G	A	intergenic	CADPS,LINC00698	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,-	-,-	ICGC,
chr13	61687086	61687086	T	C	intergenic	LINC00378,MIR3169	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr11	102287407	102287407	C	T	intronic	TMEM123	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	normal phenotype	-	ICGC,
chr6	43683651	43683651	G	A	intergenic	MRPS18A,VEGFA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Premature ovarian failure|Peripheral artery disease, association with.|Nasopharyngeal carcinoma risk, association with|More severe septal hypertrophy and diastolic dysfunction, in hypertrophic cardiomyopathy, association with.|Left ventricular outflow tract obstruction|Ischaemic complications, in giant cell arteritis, association with.|Proliferative diabetic retinopathy, association with|Prostate cancer, association with|Psoriatic arthritis, protection against, association with|Pterygium formation, association with|Retinopathy of prematurity with retinal detachment, association with.|Retinopathy, severe, association with|Thyroid cancer, association with|Tricuspid aortic valve stenosis|Hepatocellular carcinoma, association with|Giant cell arteritis, association with|Acute rejection + VEGF production, association with|Acute rejection, association with|Alzheimer's disease|Amyotrophic lateral sclerosis|Atherosclerosis development, association with|Breast cancer, association with.|Breast cancer, decreased risk|Breast cancer, protection against, in BRCA1 carriers, association with|Decreased VEGF plasma levels, association with|Diabetic retinopathy, association with|Diabetic retinopathy, in type 2 diabetes patients, association with.|Endometriosis, association with|Endurance-related phenotypes, association with|Gastroduodenal ulcer, increased risk, association with	ICGC,
chr1	214744140	214744140	G	T	intergenic	PTPN14,CENPF	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20306853	-	PAEN-AU|1|52|0.01923	-	-	vision/eye phenotype,-	Choanal atresia/lymphedema syndrome,-	COSMIC,ICGC,
chr5	163238296	163238296	C	A	intergenic	MAT2B,LOC101927835	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr4	87749530	87749530	T	C	intronic	SLC10A6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-	-	ICGC,
chr6	96517506	96517510	TTTTA	-	intronic	FUT9	unknown	deletion	-	-	-	0.0001	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	normal phenotype	-	ICGC,
chr4	115068888	115068888	G	A	intergenic	ARSJ,UGT8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,mortality/aging	-,Musical ability, association with	ICGC,
chr5	164969651	164969651	C	T	intergenic	LOC102546299,CTB-7E3.1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	ICGC,
chr16	4935409	4935409	G	A	exonic	PPL	nonsynonymous	SNV	0.045	0.846	-	-	-	-	-	-	-	-	STAD|2|395|0.00506,STES|2|395|0.00506	-	-	-	normal phenotype	-	TCGA,
chr2	220623938	220623938	G	A	intergenic	SLC4A3,MIR4268	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype,-	Epilepsy, idiopathic generalised, association with|Glaucoma, primary congenital,-	ICGC,
chr19	56752377	56752377	G	A	intergenic	ZSCAN5A,ZNF542P	unknown	SNV	-	-	-	3.231e-05	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	ICGC,
chr2	67807085	67807085	G	A	intergenic	ETAA1,LOC101927701	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	242277217	242277217	G	C	exonic	PLD5	unknown	SNV	0.0	1.0	-	-	-	-	-	-	-	COSM5846021	-	-	-	-	-	-	COSMIC,COSMIC,COSMIC,
chr9	79448683	79448683	A	T	intronic	PRUNE2	unknown	SNV	-	-	-	0.0005	rs115378030	-	0.000798722	-	-	COSN22723351	-	BRCA-EU|1|569|0.00176	-	-	-	Schizophrenia	COSMIC,ICGC,
chr3	128898964	128898964	T	-	intronic	CNBP	unknown	deletion	-	-	-	-	-	-	-	-	-	COSN27901930	-	PRAD-CA|1|308|0.00325	-	-	mortality/aging	Cardiomyopathy, dilated.|Myotonic dystrophy	COSMIC,ICGC,
chr7	122868144	122868144	G	A	intergenic	SLC13A1,IQUB	unknown	SNV	-	-	-	0.3491	rs13247333	-	0.334065	-	0.319	-	-	ESAD-UK|1|301|0.00332	-	-	skeleton phenotype,-	Schizophrenia,-	ICGC,
chr15	52302409	52302409	G	A	intergenic	LEO1,MAPK6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,-	ICGC,
chr8	21204302	21204302	C	T	intergenic	LOC101929172,GFRA2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,-	ICGC,
chr4	165499709	165499709	G	A	ncRNA_intronic	MIR5684	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr7	85732268	85732268	G	A	intergenic	SEMA3D,GRM3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,behavior/neurological phenotype	Total anomalous pulmonary venous connection|Tetralogy of Fallot|Hirschsprung disease   ,Schizophrenia, association with|Major depressive disorder, association with	ICGC,
chr14	30932019	30932019	G	A	intergenic	PRKD1,G2E3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,mortality/aging	Autism spectrum disorder|Mental retardation and microcephaly|Obesity ,-	ICGC,
chr11	73665786	73665786	A	G	intronic	DNAJB13	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-	-	ICGC,
chr1	175372709	175372709	A	G	exonic	TNR	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM349864	-	-	-	-	nervous system phenotype	Schizophrenia, association with  |Intellectual disability  	COSMIC,
chr1	101387753	101387753	C	G	intronic	SLC30A7	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15014290	-	ESAD-UK|1|301|0.00332	-	-	behavior/neurological phenotype	-	COSMIC,ICGC,
chr8	68709968	68709968	C	A	intergenic	CPA6,PREX2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,behavior/neurological phenotype	Temporal lobe epilepsy, association with|Temporal lobe epilepsy|Reduced protein expression|Reduced activity|Potential protein deficiency|Febrile seizures|Duane retraction syndrome 1,-	ICGC,
chr16	18845911	18845911	-	A	intronic	SMG1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-	Potential protein deficiency	ICGC,
chr11	124059329	124059329	G	A	intergenic	VWA5A,OR8G2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	30795091	30795091	A	T	intronic	PCDH7	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19015471	-	CLLE-ES|1|510|0.00196	-	-	-	-	COSMIC,ICGC,
chr7	66769141	66769141	T	C	ncRNA_intronic	STAG3L4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr6	92795334	92795334	A	G	intergenic	CASC6,EPHA7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	NKTL-SG|1|50|0.02000	-	-	-,nervous system phenotype	-,Development delay and dysmorphic features|Leukemia, risk, association with 	ICGC,
chr17	70756215	70756215	G	C	intronic	SLC39A11	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-FR|1|72|0.01389	-	-	-	-	ICGC,
chr1	82113734	82113734	C	A	intergenic	NONE,LPHN2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,mortality/aging	-,Schizophrenia	ICGC,
chr9	135227676	135227676	-	A	intronic	SETX	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN14739423	-	-	-	-	-	Cerebellar ataxia/tremor syndrome |Cervical dystonia, primary.|Childhood apraxia of speech ?|Chorea and motor neuron disease|Spinal muscular atrophy |Ataxia-ocular apraxia 2, atypical|Ataxia-ocular apraxia 2|Amyotrophic lateral sclerosis   |Amyotrophic lateral sclerosis ?|Amyotrophic lateral sclerosis 4, juvenile|Ataxia with neuropathy|Ataxia with oculomotor apraxia	COSMIC,
chr14	83864133	83864133	A	T	intergenic	LOC101928559,LINC00911	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24639573	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	COSMIC,ICGC,
chr9	120241022	120241022	C	T	intergenic	ASTN2,LOC101928797	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Autism spectrum disorder |Intellectual disability  |Schizophrenia  ,-	ICGC,
chr7	15248510	15248510	A	C	intronic	AGMO	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19231402	-	CLLE-ES|1|510|0.00196	-	-	-	-	COSMIC,ICGC,
chrX	129682991	129682991	T	-	intergenic	FAM45B,ENOX2	unknown	deletion	-	-	-	0.0004	-	-	-	-	-	COSN27366390	-	BTCA-SG|4|71|0.05634,PBCA-DE|1|499|0.00200	-	-	-,normal phenotype	-,-	COSMIC,ICGC,
chr3	94950997	94950997	T	C	intergenic	LINC00879,MTHFD2P1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr10	82112873	82112873	C	T	intronic	DYDC1,DYDC2	unknown	SNV	-	-	-	0.5068	rs1934697	-	0.54393	-	0.442	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr4	28463051	28463051	T	A	intergenic	STIM2,MIR4275	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	integument phenotype,-	-,-	ICGC,
chr12	101664121	101664121	G	A	intergenic	SLC5A8,UTP20	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	digestive/alimentary phenotype,-	-,-	ICGC,
chr11	69859909	69859909	-	GAAAAGAAAAG	intergenic	FGF3,LOC101928443	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|2|67|0.02985	-	-	mortality/aging,-	Syndromic deafness, microtia & microdontia|Syndromic deafness|Oto-dental syndrome|Odontoma-dysphagia syndrome|Michel aplasia, microtia & microdontia|Labyrinthine aplasia, microtia & microdontia|Craniosynostosis, intellectual disability and microcephaly|Craniosynostosis ,-	ICGC,
chr17	31477198	31477198	C	T	intronic	ASIC2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	taste/olfaction phenotype	Dyslexia 	ICGC,
chr13	19608787	19608787	G	A	intergenic	LINC00442,RNU6-52P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	119117490	119117490	G	A	intergenic	SPAG17,TBX15	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,integument phenotype	Autism,Cousin syndrome	ICGC,
chr9	9019313	9019313	A	G	intronic	PTPRD	unknown	SNV	-	-	-	0.0648	rs140092127	-	-	-	0.007	COSN24706155	-	GACA-CN|2|123|0.01626	-	-	integument phenotype	Restless legs syndrome, association with|Ewing sarcoma	COSMIC,COSMIC,ICGC,
chr4	55840281	55840281	G	A	intergenic	KIT,KDR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,integument phenotype	Mastocytosis with haematologic disorder|Mastocytosis, diffuse cutaneous|Mastocytosis, diffuse cutaneous.|Piebaldism|Piebaldism and auburn hair|Piebaldism with cafe-au-lait macules & intertriginous freckling|Mastocytosis predisposition|Mastocytosis|Gastrointestinal tumour, stromal.|Gastrointestinal tumour, stromal|Gastrointestinal stromal tumour & mastocytosis|Gastrointestinal stromal tumors and urticaria pigmentosa|Altered miRNA:target gene mRNA duplex conformation |Acral melanoma, increased risk, association with|Achalasia, association with,Intracerebral haemorrhage, association with|Increased transcriptional activity|Increased mRNA levels |Increased mRNA expression  |Higher KDR mRNA levels in NSCLC, association|Haemangioma, infantile, association with|Coronary heart disease, association with|Coronary artery lesions of Kawasaki disease, association|Atherothrombotic stroke, association with	ICGC,
chr5	85263580	85263580	C	T	intergenic	EDIL3,NBPF22P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	immune system phenotype,-	Schizophrenia  ,-	ICGC,
chr15	96119904	96119904	A	C	intergenic	LINC00924,NR2F2-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr11	4439958	4439958	C	T	intergenic	TRIM21,OR52K2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Systemic lupus erythematosus, association with,-	ICGC,
chr1	4376620	4376620	G	A	intergenic	LINC01346,LOC284661	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr13	96065082	96065082	T	C	intergenic	ABCC4,CLDN10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	integument phenotype,behavior/neurological phenotype	Increased promoter activity|Reduced function   ,-	ICGC,
chr5	79260258	79260258	G	A	intergenic	CMYA5,MTX3	unknown	SNV	-	-	-	-	rs772633431	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-,-	-,-	ICGC,
chr8	2465686	2465686	G	A	intergenic	MYOM2,CSMD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Schizophrenia, association with |Hyperinsulinism|Autism|Attention deficit hyperactivity disorder 	ICGC,
chr7	70916791	70916791	A	G	intronic	WBSCR17	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26035271	-	ESAD-UK|1|301|0.00332	-	-	-	-	COSMIC,ICGC,
chr4	79564447	79564447	C	G	intergenic	ANXA3,LINC01094	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26039550	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr4	136984803	136984803	A	-	intergenic	LINC00613,PCDH18	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,Intellectual disability  	ICGC,
chr11	27931772	27931772	C	G	intergenic	BDNF,KIF18A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22379156	-	BRCA-EU|1|569|0.00176	-	-	integument phenotype,-	Parkinson disease, association with|Obsessive-compulsive disorder, association with|Obesity, in WAGR|Obesity and neurobehavioural problems |Mood disorder, association with|Major depressive disorder, remission in older subjects|Major depressive disorder, in men, association with|Major depressive disorder, association with|Lower bone mineral density, association with|Lithium response in bipolar disorder, association with|Poor visuospatial/constructional performance, association with|Psychiatric disorders |Psychotic feature and suicidal behavior in major depression, association with|Visual sensory memory processes, association with |Spontaneous dyskinesia, in non-clinical psychosis, association with.|Severe asthma, association with|Rett syndrome disease modifier|Regular smoking, increased risk, association with|Reduced promoter activity|Reduced parahippocampal and amygdala volume, association with|Reduced hippocampal volumes, association with|Reduced grey matter content in brain structures, association with|Reduced BDNF protein levels in amniotic fluid, association with|Later age of onset of OCD in females, association|Increased BDNF serum concentration, association with|Hyperphagia and severe obesity|Autism, association with|Autism spectrum disorder|Attention deficit hyperactivity disorder, association with.|Anxiety-related personality traits, association with|Anxiety-related behavior, association with|Alzheimer's disease-related depression, association with|Alzheimer disease, sporadic late onset, association with|Alzheimer disease, association with|Alzheimer disease-related depression, association with|Alzheimer disease in APOE4 non-carriers, association|Bipolar disorder, association with|Bipolar disorder, susceptibility, association with|Blood pressure, association with|Geriatric depression, association with.|Epilepsy in Rett syndrome, earlier age of onset, association with|Endometriosis, stage III-IV, association with.|Depression, in Alzheimer disease, association with.|Depression, association with|Cognitive and motor function effects on chronic mercury exposure, association with|Childhood-onset mood disorder / EEG asymmetry|Central hypoventilation syndrome |Bulimia, association with|BMI in women, association with,Adult height, association with|Schizophrenia	COSMIC,ICGC,
chr16	57836478	57836478	G	-	upstream	KIFC3	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	hematopoietic system phenotype	-	ICGC,
chr13	95610471	95610471	C	T	intergenic	LOC101927284,ABCC4	unknown	SNV	-	-	-	0.1327	rs9524707	-	0.0884585	-	0.101	-	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	-,Increased promoter activity|Reduced function   	ICGC,
chr19	28311850	28311850	A	T	intergenic	LOC101927151,LOC100420587	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9848160	-	RECA-EU|1|422|0.00237	-	-	-,-	-,-	COSMIC,ICGC,
chr14	96080549	96080556	CCTGTCAG	-	intergenic	GLRX5,TCL6	unknown	deletion	-	-	-	-	rs763952358	-	-	-	-	COSN27242255	-	BTCA-SG|2|71|0.02817	-	-	-,-	Pyridoxine-refractory sideroblastic anaemia|Hyperglycinaemia, non-ketotic,-	COSMIC,ICGC,
chr4	182659531	182659531	T	A	intergenic	LINC00290,MGC45800	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr8	40801739	40801739	C	G	intergenic	ZMAT4,SFRP1	unknown	SNV	-	-	-	0.5026	rs963521	-	0.51278	-	0.536	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,Intellectual and developmental disabilities	ICGC,
chr5	108635772	108635772	A	C	intergenic	FER,PJA2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	normal phenotype,-	-,-	ICGC,
chr11	117263613	117263613	-	T	intronic	CEP164	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|3|308|0.00974	-	-	-	Nephronophthisis-related ciliopathy|Schizophrenia	ICGC,
chr3	191981744	191981744	A	T	ncRNA_intronic	FGF12-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7842542	-	PACA-AU|1|391|0.00256	-	-	-	-	COSMIC,ICGC,
chr2	154283684	154283684	T	G	intergenic	ARL6IP6,RPRM	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	Autism spectrum disorder|Bardet-Biedl like features,-	ICGC,
chr20	51537751	51537751	C	T	intergenic	LOC101927700,TSHZ2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,mortality/aging	-,Schizophrenia	ICGC,
chr14	86525554	86525554	G	T	ncRNA_intronic	LOC101928767	unknown	SNV	-	-	-	0.0263	rs117774412	-	0.0123802	-	0.007	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr19	57473629	57473629	G	A	intergenic	MIMT1,USP29	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,no phenotypic analysis	-,Potential protein deficiency	ICGC,
chr11	47609906	47609906	G	A	exonic	FAM180B	nonsynonymous	SNV	0.009	1.0	-	-	-	-	-	-	-	COSM6196908	-	UTCA-FR|1|20|0.05000	-	-	-	-	COSMIC,COSMIC,ICGC,
chr6	101759909	101759909	G	A	intergenic	ASCC3,GRIK2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	other phenotype,behavior/neurological phenotype	Colorectal cancer, increased risk, association with|Intellectual disability  ,Mental retardation, non-syndromic, autosomal recessive	ICGC,
chr3	86084311	86084311	G	A	intronic	CADM2	unknown	SNV	-	-	-	3.235e-05	rs541193673	-	-	-	-	COSN23420017	-	EOPC-DE|1|202|0.00495	-	-	-	-	COSMIC,ICGC,
chr10	105452682	105452682	A	-	intronic	SH3PXD2A	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr2	7251845	7251845	C	T	intergenic	LOC101929452,LOC100506274	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7082390	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	COSMIC,ICGC,
chr16	49500899	49500899	C	T	intergenic	C16orf78,ZNF423	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Hypoplastic left heart syndrome|Nephronophthisis-related ciliopathy	ICGC,
chr4	18961846	18961846	T	C	intergenic	LCORL,SLIT2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,Schizophrenia  	ICGC,
chr13	38971441	38971441	T	G	intergenic	UFM1,LINC00366	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr9	118129193	118129193	T	C	intronic	DEC1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21227951	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	-	Squamous cell carcinoma of the head and neck, reduced risk, assoc	COSMIC,COSMIC,ICGC,
chr4	36554439	36554439	T	C	intergenic	DTHD1,MIR4801	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	Leber congenital amaurosis with myopathy,-	ICGC,
chr1	84875435	84875435	G	A	intronic	DNASE2B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	vision/eye phenotype	-	ICGC,
chr4	108233474	108233474	T	A	intergenic	DKK2,PAPSS1	unknown	SNV	-	-	-	0.5877	rs203732	-	0.573882	-	0.471	-	-	ESAD-UK|1|301|0.00332	-	-	hematopoietic system phenotype,-	Schizophrenia, association with  ,-	ICGC,
chr8	59152834	59152834	C	A	intergenic	FAM110B,LOC101929528	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr18	62879803	62879803	G	T	intergenic	LOC284294,CDH7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr15	98525718	98525718	G	C	intergenic	ARRDC4,LOC101927332	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7296717	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	COSMIC,ICGC,
chr7	28552501	28552501	G	T	intronic	CREB5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	integument phenotype	-	ICGC,
chr10	82805253	82805253	G	A	intergenic	SH2D4B,NRG3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,integument phenotype	-,Schizophrenia, association with |Increased ventrolateral PFC activation|Hirschsprung disease  	ICGC,
chr16	26059492	26059492	G	A	intronic	HS3ST4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr1	222202786	222202786	C	A	intergenic	DUSP10,HHIPL2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	hematopoietic system phenotype,-	-,Potential protein deficiency	ICGC,
chr7	146460308	146460308	G	C	intronic	CNTNAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21593726	-	BRCA-EU|1|569|0.00176	-	-	integument phenotype	Gilles de la Tourette syndrome|Intellectual disability  |Learning disability & speech problems|Mental retardation |Mental retardation, Pitt-Hopkins-like|Multiple congenital anomalies  |Seizures, neonatal |Speech delay  |Stuttering |Epileptic encephalopathy  |Epilepsy and schizophrenia|Autism|Autism spectrum disorder |Autism spectrum disorder, modifier of|Childhood apraxia of speech|Cortical dysplasia-focal epilepsy syndrome|Developmental and/or speech and/or behavioural problems|Developmental delay  |Developmental delay & dysmorphic features|Dyslexia 	COSMIC,ICGC,
chr7	145998088	145998088	T	A	intronic	CNTNAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16319136	-	LIRI-JP|1|258|0.00388	-	-	integument phenotype	Gilles de la Tourette syndrome|Intellectual disability  |Learning disability & speech problems|Mental retardation |Mental retardation, Pitt-Hopkins-like|Multiple congenital anomalies  |Seizures, neonatal |Speech delay  |Stuttering |Epileptic encephalopathy  |Epilepsy and schizophrenia|Autism|Autism spectrum disorder |Autism spectrum disorder, modifier of|Childhood apraxia of speech|Cortical dysplasia-focal epilepsy syndrome|Developmental and/or speech and/or behavioural problems|Developmental delay  |Developmental delay & dysmorphic features|Dyslexia 	COSMIC,ICGC,
chr9	77336532	77336532	C	T	downstream	TRPM6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Hypomagnesaemia with secondary hypocalcaemia, mental retardation & short stature|Hypomagnesaemia with secondary hypocalcaemia	ICGC,
chr12	102056477	102056477	G	A	intronic	MYBPC1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Lethal congenital contractural syndrome 4|Distal arthrogryposis type I|Colorectal cancer, increased risk, association with	ICGC,
chr8	96265658	96265658	C	T	intronic	C8orf37	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-	Cone-rod dystrophy|Retinitis pigmentosa	ICGC,
chr5	33167618	33167618	C	T	intergenic	LOC340113,TARS	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	51304625	51304625	C	G	intergenic	ISL1,PELO	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	integument phenotype,mortality/aging	Cardiomyopathy, dilated|Diabetes, type 2|Intellectual and developmental disabilities,-	ICGC,
chr19	10395361	10395361	C	A	intronic	ICAM1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN18159439	-	-	-	-	integument phenotype	Increased protein stability|Increased soluble intercellular adhesion molecule-1 concentration, association with|Ischemic stroke, association with|Ischemic stroke, increased risk, association with|Lower serum sICAM-1 concentration, association with|Non-small cell lung cancer, worse prognosis assoc. with|Peripheral arterial occlusive disease, incr risk, association with|Proliferative diabetic retinopathy, association with|Prostate cancer risk, association with|Reduced protein stability|Retinopathy, in type 2 diabetes patients, association with.|Spontaneous cervical artery dissection, association with|Spontaneous preterm delivery, association with|Increased intercellular adhesion molecule-1 concentration, association with|ICAM1 plasma levels, association with|ICAM1 concentrations|Behcet's disease, association with|Cardiovascular disease in end-stage renal disease, association with|Cerebral malaria, predisposition to, association|Chronic obstructive pulmonary disease, severe stage, association with.|Coronary artery disease, association with.|Coronary heart disease, association with|CRC risk and differentiation, association with|Diabetic microvascular complications, association with|Hashimoto thyroiditis, association with.|Graves disease, earlier age of onset, association|Gastric dysplasia, association with.|Fuchs uveitis, association with|Familial mediterranean fever, association with	COSMIC,
chr1	225420199	225420199	-	A	intronic	DNAH14	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	Potential protein deficiency	ICGC,
chr5	32915062	32915062	G	C	intergenic	NPR3,LOC340113	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8224017	-	PACA-CA|1|268|0.00373	-	-	mortality/aging,-	Diastolic dysfunction, association with|Lower ANP in obese hypertensives, association |Reduced protein expression,-	COSMIC,ICGC,
chr4	64876963	64876963	C	T	intergenic	LPHN3-AS1,TECRL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr9	18779835	18779835	C	T	intronic	ADAMTSL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr11	93558330	93558330	G	A	intronic	VSTM5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr1	191682785	191682785	A	G	intergenic	LOC440704,RGS18	unknown	SNV	-	-	-	0.1586	rs10921003	-	0.19349	-	0.145	-	-	ESAD-UK|1|301|0.00332	-	-	-,no phenotypic analysis	-,Potential protein deficiency	ICGC,
chr7	63457584	63457584	T	C	intergenic	MIR4283-2,LINC01005	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20463853	-	COCA-CN|1|321|0.00312	-	-	-,-	-,-	COSMIC,ICGC,
chr6	53088006	53088006	C	T	intergenic	GCM1,ELOVL5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,reproductive system phenotype	-,-	ICGC,
chr1	80569676	80569676	G	A	intergenic	ELTD1,LPHN2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	normal phenotype,mortality/aging	-,Schizophrenia	ICGC,
chr8	128497634	128497634	T	G	intergenic	CASC8,CASC11	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	-,-	ICGC,
chr6	1639814	1639814	G	A	intronic	GMDS	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Tetralogy of Fallot	ICGC,
chr8	58026732	58026732	C	T	intergenic	IMPAD1,LOC100507651	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Catel-Manzke-like syndrome|Chondrodysplasia & abnormal joint development,-	ICGC,
chr20	22148419	22148419	G	A	intergenic	LINC01432,LINC01427	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr18	50745484	50745484	G	A	intronic	DCC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Altered p53 transactivation|Colorectal cancer, risk, association with |Mirror movements, congenital	ICGC,
chr22	28046213	28046213	A	G	intergenic	LINC01422,MN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,mortality/aging	-,-	ICGC,
chr21	25835588	25835588	C	T	intergenic	LOC101927869,LOC339622	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr9	16446225	16446225	T	G	intronic	BNC2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	mortality/aging	Total anomalous pulmonary venous return |Partial anomalous pulmonary venous return |Hypospadias & partial anomalous pulmonary venous return |Hypospadias 	ICGC,
chr20	19606973	19606973	G	A	intronic	SLC24A3	unknown	SNV	-	-	-	-	rs142399408	-	0.000199681	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr2	197935429	197935430	TG	-	intronic	ANKRD44	unknown	deletion	-	-	-	3.285e-05	rs796350332	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-	Saccular intracranial aneurysm, association with	ICGC,
chr19	22415451	22415451	G	A	intergenic	ZNF676,ZNF729	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588,MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	29470539	29470539	C	T	intergenic	MIR4275,PCDH7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr19	23578803	23578803	C	G	upstream	ZNF91	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-	-	ICGC,
chrX	58031489	58031489	T	C	intergenic	ZXDA,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr13	65574926	65574926	C	A	intergenic	OR7E156P,PCDH9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr9	79446915	79446915	G	A	intronic	PRUNE2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5123329	-	LINC-JP|1|394|0.00254	-	-	-	Schizophrenia	COSMIC,ICGC,
chr12	119399430	119399430	C	T	intergenic	SUDS3,SRRM4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	-,-	ICGC,
chr2	30148516	30148516	G	A	intergenic	ALK,YPEL5	unknown	SNV	-	-	-	6.462e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Medulloblastoma |Neuroblastoma,-	ICGC,
chr6	85848498	85848498	G	A	intergenic	TBX18,NT5E	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype,hematopoietic system phenotype	Autism,Arterial & joint calcifications, symptomatic	ICGC,
chr16	59372188	59372188	C	G	intergenic	GOT2,APOOP5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24023540	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	-,-	-,-	COSMIC,COSMIC,ICGC,
chr6	11318267	11318267	G	A	intronic	NEDD9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype	Alzheimer and Parkinson disease, association with	ICGC,
chr11	101321580	101321580	T	G	downstream	TRPC6	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22237288	-	BRCA-EU|1|569|0.00176	-	-	integument phenotype	Steroid resistant nephrotic syndrome, association with|Pyloric stenosis, infantile hypertrophic, association with|Pulmonary arterial hypertension, association with|Podocytopathy|Nephrotic syndrome, steroid resistant |Focal segmental glomerulosclerosis |Collapsing glomerulosclerosis	COSMIC,ICGC,
chr3	57051060	57051060	-	TCACAC	intronic	ARHGEF3	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	-	ICGC,
chr3	113069645	113069645	-	A	intronic	WDR52	unknown	insertion	-	-	-	0.0002	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-	-	ICGC,
chr2	44101592	44101592	G	T	exonic	ABCG8	synonymous	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	hematopoietic system phenotype	Lower total cholesterol levels, association with|Obstetric cholestasis.|Phytosterolaemia.|Reduced LDL-C concentrations, association with|Reduced serum noncholesterol sterols|Reduced serum noncholesterol sterols, association with|Sitosterolaemia|Smaller decline in cholesterol synthesis after weight loss|Ischemic stroke in young men, reduced risk|Increased serum cholesterol, in low-cholesterol consumers|Increased risk of gallstone susceptibility|Altered sterol to total cholesterol ratio, association with|Cholelithiasis, association with.|Coronary artery disease, association with|Coronary artery disease, increased risk, association with|Decreased carotid intima-media wall thickness|Gallstone disease, association with|Higher plasma TC and LDLc concentrations, association with|Hypercholesterolaemia	ICGC,
chr8	15188467	15188467	T	C	intergenic	SGCZ,TUSC3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	Cervical artery dissection,Mental retardation, non-syndromic, autosomal recessive|Intellectual disability, syndromic  |Intellectual disability, nonsyndromic, autosomal recessive|Intellectual disability & autism|Attention deficit hyperactivity disorder 	ICGC,
chr12	55642109	55642109	C	T	downstream	OR6C74	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr3	942403	942403	C	T	intergenic	LINC01266,CNTN6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,behavior/neurological phenotype	-,Intellectual disability  	ICGC,
chr7	436485	436485	T	A	intergenic	LOC442497,PDGFA	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26297132	-	PRAD-UK|1|140|0.00714	-	-	-,integument phenotype	-,-	COSMIC,ICGC,
chr6	68959744	68959744	C	A	intergenic	NONE,BAI3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15335415	-	PRAD-UK|1|140|0.00714	-	-	-,-	-,-	COSMIC,ICGC,
chr16	6411772	6411772	T	A	intronic	RBFOX1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23477297	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Muscular and feet abnormalities|Mental retardation|Epilepsy, rolandic  |Epilepsy|Developmental delay, facial dysmorphism  |Developmental delay and transposition of the great arteries|Developmental delay and diplegia|Developmental delay and craniosynostosis|Developmental delay  |Cardiac defects|Cardiac abnormalities, micrognathia and scoliosis|Autism spectrum disorder|Autism|Attention deficit hyperactivity disorder 	COSMIC,ICGC,
chr8	133365677	133365677	A	C	intronic	KCNQ3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Seizures, benign infantile|Intellectual disability, nonsyndromic|Epilepsy, rolandic without neonatal seizures|Epilepsy, rolandic & benign neonatal convulsions|Epilepsy, idiopathic  |Epilepsy, benign neonatal|Benign familial neonatal convulsions	ICGC,
chr16	59763743	59763743	AC	CT	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr3	147663033	147663033	G	A	intergenic	LOC440982,AGTR1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Hypertrophic cardiomyopathy, association with|Increased left ventricular mass, association with|Myocardial infarction, acute, association with|Potential protein deficiency|Preeclampsia, association with|Reduced function|Renal tubular dysgenesis|Right coronary artery in STEM1, association with|Severe chronic periodontitis, association with|Hypertension, association with.|Hypertension, association with|Friedreich ataxia, modifier of|Acromegaly, association with|Atrial fibrillation, association with|Benign prostatic hyperplasia, association with|Blood pressure variation in response to potassium, association with|Body mass index, association with|Breast cancer, reduced risk|Carotid intima-media thickness, association with|Chronic kidney disease, association with|Diastolic heart failure, increased risk, association with	ICGC,
chr1	160027370	160027370	C	T	intronic	KCNJ10	unknown	SNV	-	-	-	0.0002	-	-	-	-	-	COSN6005030	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging	SeSAME syndrome|Seizures, generalized  |Hyperinsulinism|Hearing loss, digenic non-syndromic|Epilepsy, ataxia, sensorineural deafness and tubulopathy|Epilepsy-related seizure, resistance to|Autism, seizures & intellectual disability	COSMIC,ICGC,
chr10	71442360	71442360	T	C	intergenic	C10orf35,COL13A1	unknown	SNV	-	-	-	0.2857	rs55821176	-	0.23722	-	0.217	-	-	ESAD-UK|1|301|0.00332	-	-	-,other phenotype	-,-	ICGC,
chr15	101621168	101621168	C	T	intergenic	LRRK1,CHSY1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	EOPC-DE|1|202|0.00495	-	-	mortality/aging,hematopoietic system phenotype	Parkinson disease  |Potential protein deficiency,Brachydactyly  |Neuropathy  |Schizophrenia|Temtamy preaxial brachydactyly syndrome	ICGC,
chr6	2279829	2279829	C	T	ncRNA_intronic	GMDS-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr2	68360923	68360923	G	A	intronic	WDR92	unknown	SNV	-	-	-	3.233e-05	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-	-	ICGC,
chr14	30326801	30326801	T	A	intronic	PRKD1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25590649	-	MALY-DE|1|241|0.00415	-	-	mortality/aging	Autism spectrum disorder|Mental retardation and microcephaly|Obesity 	COSMIC,ICGC,
chr3	133999184	133999184	A	G	intergenic	RYK,AMOTL2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20872951	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging,-	Cleft lip and palate, nonsyndromic,-	COSMIC,ICGC,
chr3	144470797	144470797	T	G	intergenic	C3orf58,PLOD2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,Bruck syndrome	ICGC,
chr3	96137964	96137964	A	G	intergenic	MIR8060,EPHA6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,behavior/neurological phenotype	-,Alzheimer disease  	ICGC,
chr11	70348847	70348847	C	-	intronic	SHANK2	unknown	deletion	-	-	-	0.0296	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	mortality/aging	Autism|Autism spectrum disorder |Intellectual disability and language impairment|Mental retardation |Mental retardation, speech / developmental delay & facial features	ICGC,
chr7	142405900	142405900	C	T	intergenic	MTRNR2L6,PRSS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-,-	-,Solid pseudopapillary tumours|Pancreatitis, protection against |Pancreatitis, idiopathic |Pancreatitis, hereditary|Pancreatitis, chronic, association with |Pancreatitis, chronic |Pancreatitis, autoimmune|Pancreatitis, association with |Pancreatitis, acute recurrent |Pancreatic cancer |Breast cancer.	ICGC,
chr8	47200859	47200859	G	A	intergenic	NONE,LINC00293	unknown	SNV	-	-	-	0.0005	rs77156288	-	0.000199681	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr7	123311327	123311327	C	T	intergenic	LMOD2,WASL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,mortality/aging	-,-	ICGC,
chr12	41762444	41762444	G	A	intronic	PDZRN4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr10	130178656	130178656	-	GTGTGTGT	intergenic	LINC01163,MGMT	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,mortality/aging	-,MGMT methylation in malignant pleural mesothelioma, association with|Non-Hodgkin lymphoma, increased risk|Pancreatic cancer, increased risk, association with|Promoter methylation and longer survival in glioblastoma patients, association with|Promoter methylation in colorectal cancer |MGMT methylation in lung cancer, increased risk, association with|MGMT methylation in colorectal cancer, association with|Lung cancer, risk, association with|Glioblastoma, reduced risk, association with |Endometrial cancer risk, association with|Cervical carcinoma, increased risk, association with|Cancer, increased risk|Altered enzyme activity	ICGC,
chr3	148884326	148884326	-	T	intronic	HPS3	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	integument phenotype	Hermansky-Pudlak syndrome|Schizophrenia	ICGC,
chr12	98384013	98384013	A	T	intergenic	LOC643711,MIR4303	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr6	41457455	41457455	C	T	intergenic	NCR2,LINC01276	unknown	SNV	-	-	-	-	rs568035724	-	0.000199681	-	-	COSN26228557	-	PRAD-UK|1|140|0.00714	-	-	-,-	-,-	COSMIC,ICGC,
chr10	44280155	44280155	C	G	intergenic	ZNF32-AS3,HNRNPA3P1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21868363	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr2	205311331	205311331	C	T	intergenic	ICOS,PARD3B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19505731	-	-	-	-	hematopoietic system phenotype,-	Allergic sensitisation, association with|Decreased mRNA levels |Immunodeficiency, common variable,AIDS progression, protection, association with	COSMIC,
chr7	130474549	130474549	T	C	intergenic	KLF14,MIR29A	unknown	SNV	-	-	-	3.227e-05	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	ICGC,
chr13	43269203	43269203	C	T	intergenic	TNFSF11,FAM216B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Tetralogy of Fallot|Rheumatoid arthritis, earlier onset, association with|Phenotype modifier, association with |Osteopetrosis, autosomal recessive|Lumbar spine bone mineral density, association with|Bone mineral density in osteoporosis, association with ,-	ICGC,
chr1	184821682	184821682	G	A	intronic	FAM129A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	normal phenotype	-	ICGC,
chr10	130898743	130898743	CC	TT	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr4	157637651	157637651	T	C	intergenic	CTSO,PDGFC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,integument phenotype	-,Ovarian cancer, poor survival, association with|Cleft lip with or without cleft palate, association|Bilateral cleft lip & thumb polydactyly	ICGC,
chr8	115923864	115923864	A	G	intergenic	CSMD3,TRPS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26818808	-	PRAD-FR|1|25|0.04000	-	-	-,integument phenotype	Schizophrenia  |Colorectal cancer ,Tricho-rhino-phalangeal syndrome with supernumerary teeth|Tricho-rhino-phalangeal syndrome III|Tricho-rhino-phalangeal syndrome I|Tricho-rhino-phalangeal syndrome|Infantile scoliosis & developmental delay|Femoral neck width, association with|Ambras syndrome	COSMIC,ICGC,
chr11	41986567	41986567	A	G	intergenic	LOC102723644,LOC100507205	unknown	SNV	-	-	-	-	rs565607180	-	-	-	-	-	-	UTCA-FR|1|20|0.05000	-	-	-,-	-,-	ICGC,
chr7	104493499	104493499	C	A	intronic	LHFPL3	unknown	SNV	-	-	-	3.23e-05	-	-	-	-	-	COSN26773637	-	PRAD-FR|1|25|0.04000	-	-	-	-	COSMIC,ICGC,
chr6	55431522	55431522	T	G	intronic	HMGCLL1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19187787	-	CLLE-ES|1|510|0.00196	-	-	-	-	COSMIC,ICGC,
chr14	94703020	94703020	T	C	intronic	PPP4R4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-	-	ICGC,
chrX	153121909	153121909	G	A	intergenic	PDZD4,L1CAM	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	normal phenotype,integument phenotype	-,X-linked leukodystrophy |Spastic paraplegia|Mental retardation, X-linked|Mental retardation  |MASA syndrome|L1 syndrome & diabetes insipidus, nephrogenic|L1 syndrome  |Hydrocephalus, X-linked with diabetes insipidus, nephrogenic|Epilepsy with cognitive impairment / autism spectrum disorder|Hirschsprung disease|Hirschsprung disease & hydrocephalus, X-linked  |Hydrocephalus, developmental delay and intellectual disability|Hydrocephalus, MASA|Hydrocephalus, X-linked	ICGC,
chr4	9421861	9421861	A	C	intergenic	USP17L6P,DEFB131	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr8	61892349	61892349	A	G	intergenic	LOC100130298,CLVS1	unknown	SNV	-	-	-	0.0036	rs58946151	-	0.00938498	-	0.007	-	-	LAML-KR|1|205|0.00488	-	-	-,-	-,-	ICGC,
chr6	141610967	141610967	C	T	intergenic	MIR4465,NMBR	unknown	SNV	-	-	-	0.3002	rs9403284	-	0.253195	-	0.290	-	-	ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488	-	-	-,behavior/neurological phenotype	-,-	ICGC,
chr5	45755582	45755582	G	C	intergenic	HCN1,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	integument phenotype,-	Idiopathic epilepsy, generalised ,-	ICGC,
chr1	32259767	32259767	G	T	exonic	SPOCD1	nonsynonymous	SNV	0.001	0.999	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr4	141062275	141062275	T	C	intronic	MAML3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging	-	ICGC,
chr9	107361712	107361712	T	C	upstream	OR13C5	unknown	SNV	-	-	-	3.229e-05	-	-	-	-	-	-	-	GACA-JP|1|585|0.00171	-	-	-	-	ICGC,
chr2	81930416	81930416	C	T	intergenic	LOC100507201,LOC1720	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	19827171	19827171	G	A	intergenic	OSR1,LINC00954	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Reduced newborn kidney size and function, association,-	ICGC,
chr16	51169961	51169964	AGTA	-	UTR3	SALL1	unknown	deletion	-	-	-	-	-	-	-	-	-	COSN22900979	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging	Townes-Brocks syndrome|Renal hypodysplasia|Multiple congenital anomalies, CNS defects, cortical blindness, and absence of psychomotor development|Lenz microphthalmia syndrome|Goldenhar syndrome 	COSMIC,ICGC,
chr4	135592407	135592407	T	A	intergenic	PABPC4L,LINC00613	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Autism spectrum disorder  ,-	ICGC,
chr7	146449463	146449463	G	A	intronic	CNTNAP2	unknown	SNV	-	-	-	0.0026	rs142537523	-	0.00179712	-	0.007	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Gilles de la Tourette syndrome|Intellectual disability  |Learning disability & speech problems|Mental retardation |Mental retardation, Pitt-Hopkins-like|Multiple congenital anomalies  |Seizures, neonatal |Speech delay  |Stuttering |Epileptic encephalopathy  |Epilepsy and schizophrenia|Autism|Autism spectrum disorder |Autism spectrum disorder, modifier of|Childhood apraxia of speech|Cortical dysplasia-focal epilepsy syndrome|Developmental and/or speech and/or behavioural problems|Developmental delay  |Developmental delay & dysmorphic features|Dyslexia 	ICGC,
chr5	44707707	44707707	C	A	intergenic	FGF10-AS1,LOC100506674	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7943520	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	COSMIC,ICGC,
chr3	110276654	110276654	G	A	intergenic	LINC01205,PVRL3-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr11	41688211	41688211	A	C	intergenic	LRRC4C,LOC102723644	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	ICGC,
chr16	68559051	68559051	G	A	intergenic	SMPD3,ZFP90	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17804547	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	-,Psychomotor delay & dysmorphic features 	COSMIC,ICGC,
chr5	23754291	23754291	C	A	intergenic	PRDM9,CDH10	unknown	SNV	-	-	-	3.234e-05	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	reproductive system phenotype,-	Altered meiotic recombination hotspot usage|Azoospermia by meiotic arrest, association with |Azoospermia, non-obstructive ,-	ICGC,
chr2	85097834	85097834	G	A	exonic	TRABD2A	nonsynonymous	SNV	0.077	1.0	-	-	-	-	-	-	-	-	-	HNSC-US|1|44|0.02273	-	-	-	-	ICGC,
chr4	138732755	138732755	C	T	intergenic	PCDH18,LINC00616	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Intellectual disability  ,-	ICGC,
chr1	144878385	144878385	C	T	intronic	NBPF20,NBPF9,PDE4DIP	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-,-	-,Potential protein deficiency,Potential protein deficiency	ICGC,
chr8	22682013	22682013	G	A	intronic	PEBP4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr4	145428225	145428225	G	A	intergenic	GYPA,HHIP-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,-	MNS antigen, absence|M blood type variant|Haemolytic disease of the newborn|Blood group variation|Blood group Erik variant,-	ICGC,
chr14	70160784	70160784	C	A	intronic	KIAA0247	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr18	75433138	75433138	C	T	intergenic	GALR1,LINC01029	unknown	SNV	-	-	-	3.232e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,-	Growth hormone insufficiency,-	ICGC,
chr5	131396627	131396627	C	T	intronic	IL3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging	Brain volume, association with|Graves disease, association with|Malaria attacks, prevention against, association with|Rheumatoid arthritis, association with	ICGC,
chr17	38499103	38499103	G	T	exonic	RARA	nonsynonymous	SNV	0.006	0.98	-	-	-	-	-	-	-	COSM6322161	-	LICA-CN|1|402|0.00249	-	-	mortality/aging	-	COSMIC,ICGC,
chr9	138903558	138903558	T	C	exonic	NACC2	nonsynonymous	SNV	0.102	0.001	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-	-	ICGC,
chr5	91574341	91574341	-	AG	intergenic	ARRDC3-AS1,NR2F1-AS1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	168995527	168995527	G	A	intergenic	SPOCK3,ANXA10	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1291241	-	LINC-JP|1|394|0.00254	-	-	-,-	-,-	COSMIC,ICGC,
chr4	177336258	177336258	A	G	intergenic	SPCS3,VEGFC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Lymphoedema, primary, Milroy-like	ICGC,
chr12	94310402	94310402	C	T	intergenic	CRADD,PLXNC1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,vision/eye phenotype	Mental retardation, non-syndromic ,-	ICGC,
chr12	33128868	33128868	C	G	intergenic	PKP2,SYT10	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22715310	-	BRCA-UK|1|141|0.00709,BRCA-EU|1|569|0.00176	-	-	mortality/aging,behavior/neurological phenotype	Sudden cardiac death  |Potential protein deficiency|Cardiomyopathy, dilated|Cardiomyopathy, arrhythmogenic, left-dominant|Cardiomyopathy, arrhythmogenic right ventricular|Brugada syndrome    |Arrhythmogenic right ventricular dysplasia/cardiomyopathy.|Arrhythmogenic right ventricular dysplasia/cardiomyopathy|Arrhythmogenic right ventricular dysplasia|Arrhythmogenic right ventricular cardiomyopathy.|Arrhythmogenic right ventricular cardiomyopathy, asymptomatic|Arrhythmogenic right ventricular cardiomyopathy|Sudden unexpected death with negative autopsy,-	COSMIC,ICGC,
chr3	137286648	137286648	T	A	intergenic	IL20RB,SOX14	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21010078	-	BRCA-EU|1|569|0.00176	-	-	hematopoietic system phenotype,no phenotypic analysis	Autism,-	COSMIC,ICGC,
chr14	29994449	29994449	G	A	ncRNA_intronic	MIR548AI	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr3	51368616	51368616	G	A	intronic	DOCK3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	immune system phenotype	Attention deficit hyperactivity disorder	ICGC,
chr9	10143342	10143342	T	A	intronic	PTPRD	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Restless legs syndrome, association with|Ewing sarcoma	ICGC,
chr11	129535479	129535479	A	G	intergenic	LINC01395,TMEM45B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,no phenotypic analysis	-,-	ICGC,
chr19	42910396	42910396	G	A	exonic	LIPE	nonsynonymous	SNV	0.704	0.521	4.077e-06	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Plasma lipid concentration association with|Obesity and diabetes, association with|Hypoxia tolerance, association with|Hypercholesterolaemia	ICGC,
chr10	54074156	54074156	T	C	UTR5	DKK1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1080034	UCEC|1|248|0.00403	UCEC-US|1|250|0.00400	-	-	mortality/aging	High bone mass trait	COSMIC,TCGA,ICGC,
chr17	13578874	13578874	G	A	intergenic	HS3ST3A1,CDRT15P1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25704960	-	EOPC-DE|1|202|0.00495,MELA-AU|1|183|0.00546	-	-	-,-	-,-	COSMIC,ICGC,
chr19	33438406	33438406	T	-	intronic	CEP89	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546,MALY-DE|1|241|0.00415,LIRI-JP|1|258|0.00388	-	-	-	Intellectual disability  |Complex IV deficiency, isolated	ICGC,
chr13	59345430	59345430	C	T	intergenic	LOC101926897,DIAPH3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Autism  |Auditory neuropathy spectrum disorder|Auditory neuropathy	ICGC,
chr5	117302879	117302879	T	C	ncRNA_intronic	LOC102467224	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr12	24795061	24795061	A	C	intergenic	LINC00477,BCAT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,Schizophrenia  	ICGC,
chr1	191475084	191475084	C	A	intergenic	LOC440704,RGS18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,no phenotypic analysis	-,Potential protein deficiency	ICGC,
chr10	104605034	104605034	C	A	intergenic	CYP17A1,C10orf32	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5246313	-	LINC-JP|1|394|0.00254	-	-	mortality/aging,-	Endometriosis, association with|Polycystic ovaries, association with|Prostate cancer, reduced risk, association with|Pseudohermaphroditism|Short menstrual cycle|Steroid-17 alpha-hydroxylase deficiency |Colorectal cancer onset, association with|Breast cancer, susceptibility, association with|Breast cancer, risk modifier|17-alpha-hydroxylase/17,20-lyase deficiency|17-alpha-hydroxylase/17,20-lyase deficiency.|17,20-lyase deficiency|46,XY disorder of sexual development.|Body weight / insulin resistance in polycystic ovary syndrome, association with|Breast cancer, increased risk,-	COSMIC,ICGC,
chr11	55587970	55587970	C	A	exonic	OR5D18	nonsynonymous	SNV	0.036	0.939	-	-	-	-	-	-	-	-	HNSC|1|512|0.00195	-	-	-	nervous system phenotype	-	TCGA,
chr3	65683134	65683134	G	C	intronic	MAGI1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-	Schizophrenia  |Bipolar affective disorder  	ICGC,
chr12	117244902	117244902	G	A	intronic	RNFT2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr18	50855237	50855237	C	T	intronic	DCC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Altered p53 transactivation|Colorectal cancer, risk, association with |Mirror movements, congenital	ICGC,
chr13	55014798	55014798	-	CTTT	intergenic	MIR1297,MIR5007	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr15	20482292	20482292	A	C	intergenic	NONE,CHEK2P2	unknown	SNV	-	-	-	0.0008	-	-	-	-	-	COSN27610268	-	SKCA-BR|6|100|0.06000	-	-	-,-	-,-	COSMIC,ICGC,
chr10	2517184	2517184	C	T	intergenic	LINC00701,PFKP	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr9	13990331	13990331	C	T	intergenic	LINC00583,NFIB	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15753115	-	LIRI-JP|1|258|0.00388	-	-	-,mortality/aging	-,Agenesis of corpus callosum 	COSMIC,ICGC,
chr2	229801012	229801012	T	C	intergenic	SPHKAP,PID1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,Anorectal malformation	ICGC,
chr10	28010165	28010165	C	T	intronic	MKX	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	skeleton phenotype	-	ICGC,
chr16	88222314	88222314	C	G	intergenic	LOC400553,LOC101928880	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20318557	-	PAEN-AU|1|52|0.01923	-	-	-,-	-,-	COSMIC,ICGC,
chr1	66994438	66994438	C	G	intergenic	PDE4B,SGIP1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN14572256	-	PACA-AU|1|391|0.00256	-	-	mortality/aging,-	Psychiatric disorder |Schizophrenia,-	COSMIC,COSMIC,COSMIC,ICGC,
chr2	120759871	120759871	T	A	intergenic	PTPN4,EPB41L5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	immune system phenotype,mortality/aging	-,-	ICGC,
chr3	155424471	155424471	C	T	intergenic	PLCH1,C3orf33	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22957838	-	PAEN-IT|1|37|0.02703	-	-	-,-	-,-	COSMIC,ICGC,
chr2	218036356	218036356	G	A	intergenic	TNP1,DIRC3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26703887	-	BRCA-FR|1|72|0.01389	-	-	reproductive system phenotype,-	Oligozoospermia |Lower number of permanent teeth erupted, association with |Azoospermia ,Renal cell cancer	COSMIC,ICGC,
chr1	38258391	38258391	T	C	intergenic	EPHA10,MANEAL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	ICGC,
chr4	96915290	96915290	G	A	intergenic	PDHA2,STPG2-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr5	57752285	57752285	G	T	intronic	PLK2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	integument phenotype	-	ICGC,
chr13	109154687	109154687	T	C	intergenic	TNFSF13B,MYO16	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26868656	-	UTCA-FR|1|20|0.05000	-	-	hematopoietic system phenotype,-	Cryoglobulinemia, predisposition, association with |Preeclampsia, association with ,-	COSMIC,COSMIC,ICGC,
chr10	32881839	32881839	G	T	intronic	CCDC7	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9205124	-	OV-AU|1|93|0.01075	-	-	-	Potential protein deficiency	COSMIC,ICGC,
chr11	62830791	62830791	G	A	intergenic	SLC22A8,SLC22A24	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	homeostasis/metabolism phenotype,-	-,Potential protein deficiency	ICGC,
chr9	122156044	122156044	T	G	intergenic	BRINP1,MIR147A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|2|301|0.00664	-	-	-,-	-,-	ICGC,
chr4	166979937	166979937	T	G	intronic	TLL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype	Hyperinsulinism|Atrial septal defect  	ICGC,
chr8	14087609	14087609	C	T	intronic	SGCZ	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	Cervical artery dissection	ICGC,
chr2	2435490	2435490	G	A	intergenic	MYT1L,LINC01250	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	Schizophrenia, childhood onset  |Schizophrenia  |Intellectual disability, obesity, hyperphagia & behavioural difficulties|Intellectual disability, obesity & hyperactivity|Intellectual disability  |Brain malformations |Autism ,-	ICGC,
chr6	66322963	66322963	G	A	intronic	EYS	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	Cone-rod dystrophy, autosomal recessive.|Leber congenital amaurosis|Retinitis pigmentosa|Retinitis pigmentosa, autosomal recessive |Retinitis pigmentosa, autosomal recessive/Leber congenital amaurosis	ICGC,
chr1	67131154	67131154	C	T	intronic	SGIP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr11	9615983	9615983	G	A	intergenic	WEE1,SWAP70	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,hematopoietic system phenotype	-,-	ICGC,
chr7	97176678	97176678	A	T	intergenic	ACN9,TAC1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,integument phenotype	Long QT syndrome, drug-induced, increased risk,-	ICGC,
chr16	6245633	6245633	T	G	intronic	RBFOX1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging	Muscular and feet abnormalities|Mental retardation|Epilepsy, rolandic  |Epilepsy|Developmental delay, facial dysmorphism  |Developmental delay and transposition of the great arteries|Developmental delay and diplegia|Developmental delay and craniosynostosis|Developmental delay  |Cardiac defects|Cardiac abnormalities, micrognathia and scoliosis|Autism spectrum disorder|Autism|Attention deficit hyperactivity disorder 	ICGC,
chrX	38070100	38070100	C	G	intronic	SRPX	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21978109	-	BRCA-UK|1|141|0.00709,BRCA-EU|1|569|0.00176	-	-	hematopoietic system phenotype	Retinitis pigmentosa	COSMIC,ICGC,
chr5	127681271	127681271	G	T	exonic	FBN2	nonsynonymous	SNV	0.0	1.0	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	mortality/aging	Contractural arachnodactyly|Congenital heart disease 	ICGC,
chr19	44881079	44881099	CCAAGATAATGCCACTGCACT	-	intergenic	ZNF112,ZNF285	unknown	deletion	-	-	-	0.0002	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	ICGC,
chr9	113628660	113628660	A	T	intergenic	MUSK,LPAR1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,mortality/aging	Limb-girdle congenital myasthenic syndrome, salbutamol-responsive|Congenital myasthenic syndrome,Knee osteoarthritis, susceptibility to, association|Increased peripheral blood monocyte counts, association with	ICGC,
chr20	10043324	10043324	G	T	ncRNA_intronic	SNAP25-AS1	unknown	SNV	-	-	-	3.231e-05	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr21	47322648	47322648	C	T	intronic	PCBP3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr8	60893568	60893568	G	C	intergenic	TOX,CA8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CN|1|65|0.01538	-	-	hematopoietic system phenotype,behavior/neurological phenotype	Pulmonary tuberculosis, association  with,Ataxia, cerebellar hypoplasia|Cerebellar ataxia and quadrupedal locomotion|Cerebellar ataxia, mental retardation & dysequilibrium syndrome 3	ICGC,
chr5	36711707	36711707	C	T	intergenic	SLC1A3,LOC646719	unknown	SNV	-	-	-	-	rs748555949	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	vision/eye phenotype,-	Increased glutmate transport|Episodic ataxia/hemiplegia/seizures|Episodic ataxia  6,-	ICGC,
chr9	76224055	76224055	A	T	intergenic	ANXA1,MIR6130	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN18975501	-	CLLE-ES|1|510|0.00196	-	-	mortality/aging,-	Autism spectrum disorder,-	COSMIC,ICGC,
chr5	23302156	23302156	C	T	intergenic	CDH12,PRDM9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,reproductive system phenotype	Lung cancer, susceptibility to, association with,Altered meiotic recombination hotspot usage|Azoospermia by meiotic arrest, association with |Azoospermia, non-obstructive 	ICGC,
chr4	29744584	29744584	T	C	intergenic	MIR4275,PCDH7	unknown	SNV	-	-	-	3.23e-05	rs761713443	-	-	-	-	COSN5059180	-	LINC-JP|1|394|0.00254	-	-	-,-	-,-	COSMIC,ICGC,
chr15	33572401	33572401	T	G	intergenic	TMCO5B,LOC101928134	unknown	SNV	-	-	-	0.2474	rs72725423	-	0.285144	-	0.217	-	-	LAML-KR|1|205|0.00488	-	-	-,-	-,-	ICGC,
chr20	22119025	22119025	A	G	intergenic	LINC01432,LINC01427	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15686992	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr3	71623730	71623730	G	A	intronic	FOXP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Speech delay, contractures, hypertonia & blepharophimosis|Mental retardation, speech and language deficits|Intellectual disability & autism|Intellectual disability|Delayed speech/motor development & Chiari I malformation|Congenital heart defects|Childhood apraxia of speech|Autism, speech delay and deficit of motor coordination|Autism spectrum disorder  	ICGC,
chr3	54987458	54987458	C	A	intronic	CACNA2D3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	integument phenotype	Autism 	ICGC,
chr14	58550839	58550839	G	T	intronic	C14orf37	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr13	83552661	83552661	G	T	intergenic	NONE,SLITRK1	unknown	SNV	-	-	-	3.235e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Trichotillomania|Tourette syndrome|Obsessive-compulsive disorder |Attention deficit hyperactivity disorder 	ICGC,
chr7	70971338	70971338	G	A	intronic	WBSCR17	unknown	SNV	-	-	-	9.702e-05	rs376916526	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr3	113300390	113300390	T	C	intronic	SIDT1	unknown	SNV	-	-	-	0.2077	rs62265520	-	0.260184	-	0.203	-	-	LAML-KR|1|205|0.00488,LUSC-KR|1|170|0.00588	-	-	-	-	ICGC,
chr12	41918811	41918811	G	T	intronic	PDZRN4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN18207910	-	-	-	-	-	-	COSMIC,
chr4	105357195	105357195	C	T	intergenic	TACR3,CXXC4	unknown	SNV	-	-	-	-	rs188255654	-	-	-	-	COSN23535807	-	ESAD-UK|1|301|0.00332	-	-	behavior/neurological phenotype,-	Kallmann syndrome|Hypogonadotropic hypogonadism,-	COSMIC,ICGC,
chr1	75643618	75643618	C	T	intergenic	LHX8,SLC44A5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,skeleton phenotype	Cleft lip ,-	ICGC,
chr7	118388530	118388530	C	A	intergenic	ANKRD7,KCND2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20438617	-	COCA-CN|1|321|0.00312	-	-	-,integument phenotype	-,Epilepsy, temporal lobe	COSMIC,ICGC,
chrX	103922981	103922981	A	G	intronic	IL1RAPL2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23205642	-	MALY-DE|1|241|0.00415	-	-	-	-	COSMIC,ICGC,
chr6	70171121	70171121	G	A	intergenic	BAI3,LMBRD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|2|100|0.02000	-	-	-,-	-,Methylmalonic aciduria & homocystinuria, cblF type	ICGC,
chr9	20252039	20252039	G	A	intergenic	SLC24A2,MLLT3	unknown	SNV	-	-	-	3.228e-05	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	vision/eye phenotype,mortality/aging	Retinal disease,Neuromotor dev. delay, cerebellar ataxia, epilepsy	ICGC,
chr3	73698505	73698505	T	C	intergenic	PDZRN3-AS1,CNTN3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6775821	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr1	207603638	207603638	A	T	intergenic	CD55,CR2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24645452	-	GACA-CN|1|123|0.00813	-	-	mortality/aging,mortality/aging	Cromer blood group|Event-free survival, in follicular lymphoma, association with.|Extraocular muscle pareses in myasthenia gravis|H1N1 influenza A virus infection, 2009 pandemic, increased severity, association with,Lupus development, association with|Increased transcriptional activity|Hypogammaglobulinaemia  |Haemolytic uraemic syndrome, atypical	COSMIC,ICGC,
chr7	19899207	19899207	C	G	intergenic	TMEM196,LOC101927668	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	ICGC,
chr8	787476	787476	C	T	ncRNA_intronic	ERICH1-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr6	79271645	79271645	T	G	intergenic	MEI4,IRAK1BP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,no phenotypic analysis	-,-	ICGC,
chr10	6029784	6029784	G	T	intergenic	IL15RA,IL2RA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	hematopoietic system phenotype,mortality/aging	-,Increased expression  |Immunodeficiency|Diabetes, type 1, association with |CD25 deficiency|Breast cancer, increased risk  	ICGC,
chr13	86739824	86739824	A	-	intergenic	SLITRK6,MIR4500HG	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	behavior/neurological phenotype,-	High myopia and sensorineural deafness,-	ICGC,
chr2	49520674	49520674	T	G	intergenic	FSHR,NRXN1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24636847	-	GACA-CN|1|123|0.00813	-	-	integument phenotype,mortality/aging	Ovarian hyperstimulation syndrome|Ovarian hyperstimulation syndrome, association with|PCOS, association|PCOS, association with|Poor ovarian response to gonadotrophin stimulation, association|Premature ovarian failure|Premature ovarian failure, association with|Premature ovarian failure, early-onset|Primary amenorrhea|Reduced mRNA and protein expression, association with|Secondary amenorrhea|Serum FSH levels, association with|Sterility|Twinning, dizygotic|Ovarian hyperstimulation response, association with|Ovarian cancer, association with|Ovarian cancer susceptibility, association with|Decr. total testes volume and altered serum reproductive hormone levels, in men, association with.|Decreased promoter activity|Endometriosis risk, association with|Endometriosis, risk, association with|FSHR activation|FSHR inactivation|Hormone levels in PCOS, association with|Hypergonadotropic hypogonadism|Menstrual cycle, length, association with|Lower basal FSH level, association with|Increased serum FSH levels, association with|Increased promoter activity|Hypertension, female, association with|Hypergonadotropic ovarian failure,Hypotonia|Hypotonia & encephalopathy|Increased white matter volume, association with|Intellectual disability  |Intellectual disability & attention deficit hyperactivity disorder|Intellectual disability & hearing loss|Intellectual disability & pervasive developmental disorder|Intellectual disability and autism|Intellectual disability, nonsyndromic |Intellectual disability, seizures, dysmorphisms & language delay|Growth retardation  |Epilepsy, myoclonic seizures & speech delay|Developmental disorder|Developmental disorder & attention deficit hyperactivity disorder|Developmental disorder, seizures & attention deficit hyperactivity disorder|Developmental/intellectual disability, hypotonia & dysmorphic features|Disorder of muscle, ligament & fascia|Encephalopathy  |Epilepsy  |Epilepsy with cognitive impairment / autism spectrum disorder|Epilepsy with focal seizures|Epilepsy, generalised |Intellectual disability, seizures, language delay & hypotonia|Language delay|Learning difficulties|Respiratory distress & sepsis|Respiratory distress syndrome|Schizophrenia |Schizophrenia, childhood onset |Schizophrenia, disorganised type|Seizures, generalized tonic-clonic & attention deficit hyperactivity disorder|Sensory integration disorder & attention deficit hyperactivity disorder|Speech delay & social communication difficulties|Tourette syndrome|Pervasive developmental disorder / hypotonia|Pervasive developmental disorder|Pervasive developmental delay / mental retardation, lack of coordination & hearing loss|Learning difficulties, ADHD & autism|Mental retardation|Mental retardation, autism, vertebral malformations|Mental retardation, Pitt-Hopkins-like|Microcephaly & mental retardation|Multiple congenital anomalies  |Multiple disabilities|Myoclonic epilepsy   |Neurodevelopmental disorder  |Vertebral anomalies|Developmental delay, speech delay & social communication difficulties|Attention deficit hyperactivity disorder |Autism spectrum disorder, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability & language delay|Autism spectrum disorder, intellectual disability, dysmorphisms, developmental delay & language delay|Autism spectrum disorder, intellectual disability, seizures & developmental delay|Autism spectrum disorder, intellectual disability, seizures, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability, seizures, dysmorphisms & language delay|Autism spectrum disorder, seizures, developmental delay & language delay|Autism, intellectual disability & attention deficit hyperactivity disorder|Autistic disorder|Autism spectrum disorder with developmental & speech delay|Autism spectrum disorder & seizures|Autism spectrum disorder & language delay|Autism |Autism & learning difficulties|Autism & mental retardation|Autism & seizures|Autism spectrum disorder|Autism spectrum disorder & attention deficit hyperactivity disorder|Autism spectrum disorder & developmental delay|Autism spectrum disorder & dysmorphic features|Autism spectrum disorder & intellectual disability|Behavioural problems|Congenital heart defect  |Craniofacial dysmorphism|Developmental delay & speech/motor delay|Developmental delay with early-onset epilepsy|Developmental delay, dysmorphic features & short stature|Developmental delay, epilepsy, autism|Developmental delay, language delay & hypotonia|Developmental delay, learning difficulties, ADHD|Developmental delay, microcephaly & behavioural problems|Developmental delay, pulmonic stenosis & autism spectrum disorder|Developmental delay, short stature and diaphragmatic hernia|Developmental delay, speech delay & microcephaly|Developmental delay & seizures|Developmental delay & seizure disorder|Cystic hygroma, hydrops & micrognathia|Cystic hygroma, shortened upper limbs & fetal demise|Developmental & speech delay|Developmental delay|Developmental delay / autism|Developmental delay & autism|Developmental delay & dysmorphic features|Developmental delay & epilepsy|Developmental delay & hypotonia|Developmental delay & multiple congenital anomalies	COSMIC,ICGC,
chr3	33682582	33682582	C	T	intronic	CLASP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	cellular phenotype	Intellectual disability  	ICGC,
chr4	23475231	23475231	C	T	intergenic	MIR548AJ2,PPARGC1A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,mortality/aging	-,Neovascularization in age-related macular degeneration, reduced risk|Left ventricular diastolic dysfunction in men, association with|Insulin resistance, association with|Increased risk for HCM|Hyperinsulinemia, HOMA-IR indices and abdominal obesity, association with|Huntington disease, age-at-onset in males, association with|Endurance-related phenotypes, association with|Diabetic nephropathy, association with|Diabetes, type 2, lower risk, association with|Diabetes, type 2, association with|Breast cancer|Body mass index, association with|Blood pressure, association with	ICGC,
chr2	153943465	153943465	T	G	intergenic	ARL6IP6,RPRM	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	Autism spectrum disorder|Bardet-Biedl like features,-	ICGC,
chr3	196043063	196043063	C	A	exonic	TCTEX1D2	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM6164200	LUAD|1|543|0.00184	-	-	-	-	-	COSMIC,TCGA,
chr4	88178919	88178919	C	T	intergenic	KLHL8,MIR5705	unknown	SNV	-	-	-	0.4483	rs6834488	-	0.43151	-	0.529	-	-	LAML-KR|1|205|0.00488	-	-	no phenotypic analysis,-	-,-	ICGC,
chr9	128738275	128738275	-	ATA	intergenic	PBX3,LOC101929116	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	integument phenotype,-	Congenital heart defects,-	ICGC,
chr4	28211326	28211326	T	C	intergenic	STIM2,MIR4275	unknown	SNV	-	-	-	0.1443	rs61794090	-	0.096246	-	0.152	-	-	LAML-KR|1|205|0.00488	-	-	integument phenotype,-	-,-	ICGC,
chr8	92594693	92594693	T	-	intergenic	SLC26A7,RUNX1T1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	digestive/alimentary phenotype,integument phenotype	-,Intellectual disability  	ICGC,
chr14	23239288	23239288	C	T	intronic	OXA1L	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr5	3812391	3812391	T	C	intergenic	IRX1,LOC101929153	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	ICGC,
chr9	140801911	140801911	C	A	intronic	CACNA1B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7559897	-	PACA-AU|1|391|0.00256	-	-	integument phenotype	Schizophrenia  |Asperger syndrome	COSMIC,ICGC,
chr2	121087143	121087143	C	T	intergenic	RALB,INHBB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Spermatogenic failure 	ICGC,
chr10	16747083	16747083	G	T	intronic	RSU1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr7	92576726	92576726	C	T	intergenic	LOC101927497,SAMD9	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9516102	-	OV-AU|1|93|0.01075	-	-	-,-	-,Tumoural calcinosis, normophosphataemic	COSMIC,ICGC,
chr2	141134225	141134225	C	T	intronic	LRP1B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	mortality/aging	Schizophrenia   	ICGC,
chr15	40177946	40177946	A	G	intronic	GPR176	unknown	SNV	-	-	-	3.229e-05	-	-	-	-	-	COSN19151784	-	CLLE-ES|1|510|0.00196	-	-	-	-	COSMIC,ICGC,
chr6	165398841	165398841	C	T	intergenic	QKI,C6orf118	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21011718	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging,-	6q terminal deletion syndrome,-	COSMIC,ICGC,
chr6	2032827	2032827	T	A	intronic	GMDS	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9311965	-	PAEN-AU|1|52|0.01923	-	-	-	Tetralogy of Fallot	COSMIC,ICGC,
chr3	109201694	109201694	C	T	ncRNA_intronic	LINC01205	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr5	124643179	124643179	C	A	ncRNA_intronic	LOC101927421	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27762668	-	NKTL-SG|1|50|0.02000	-	-	-	-	COSMIC,ICGC,
chr2	173560811	173560811	G	C	intergenic	PDK1,RAPGEF4-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9116579	-	OV-AU|1|93|0.01075	-	-	skeleton phenotype,-	-,-	COSMIC,ICGC,
chr17	10838749	10838749	G	A	intergenic	PIRT,SHISA6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	integument phenotype,-	-,-	ICGC,
chr10	129751021	129751021	C	T	intronic	PTPRE	unknown	SNV	-	-	-	6.458e-05	rs776201107	-	-	-	-	-	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	hematopoietic system phenotype	-	ICGC,
chr6	19065029	19065029	G	A	intergenic	MIR548A1,LOC101928519	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr2	27925705	27925705	G	A	intergenic	SLC4A1AP,MRPL33	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN18985030	-	CLLE-ES|1|510|0.00196	-	-	-,-	-,-	COSMIC,ICGC,
chr3	35024170	35024170	C	T	ncRNA_intronic	LOC101928135	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr3	175231782	175231782	A	C	intronic	NAALADL2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-	-	ICGC,
chr1	218902677	218902677	G	T	intergenic	TGFB2,LYPLAL1-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	mortality/aging,-	Breast cancer, progression, association with|Loeys-Dietz syndrome 4|Thoracic aortic aneurysms and dissections,-	ICGC,
chr6	67018286	67018286	G	T	intergenic	SLC25A51P1,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	ICGC,
chr1	58807374	58807374	C	T	intergenic	DAB1,OMA1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,immune system phenotype	Syndromic cleft lip & palate,-	ICGC,
chr2	97379512	97379512	C	T	intronic	LMAN2L	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26423145	-	PRAD-UK|1|140|0.00714	-	-	-	-	COSMIC,ICGC,
chr7	111795784	111795784	A	C	intronic	DOCK4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN219367	-	-	-	-	-	-	COSMIC,
chr2	40437399	40437399	G	A	ncRNA_intronic	SLC8A1-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr2	112071791	112071791	G	A	intergenic	BCL2L11,MIR4435-1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Tyrosine kinase inhibitor resistance,-	ICGC,
chr4	95593038	95593038	T	A	intergenic	PDLIM5,LOC100507012	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Bipolar disorder and schizophrenia, association with|Schizophrenia, association with ,-	ICGC,
chr19	7691056	7691056	C	T	exonic	XAB2	nonsynonymous	SNV	0.18	0.001	2.44e-05	-	rs191550276	2.485e-05	0.000399361	-	-	COSM3836157	BRCA|1|982|0.00102	BRCA-US|1|955|0.00105	-	-	mortality/aging	-	COSMIC,TCGA,ICGC,
chr12	24990517	24990517	C	T	intronic	BCAT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	Schizophrenia  	ICGC,
chr4	49066387	49066387	C	T	intergenic	CWH43,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr9	24953130	24953130	A	T	intergenic	IZUMO3,TUSC1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17668480	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr2	2358468	2358468	A	G	intergenic	MYT1L,LINC01250	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Schizophrenia, childhood onset  |Schizophrenia  |Intellectual disability, obesity, hyperphagia & behavioural difficulties|Intellectual disability, obesity & hyperactivity|Intellectual disability  |Brain malformations |Autism ,-	ICGC,
chr5	179364903	179364903	-	TGTGTG	intergenic	TBC1D9B,RNF130	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN18766659	-	-	-	-	-,-	-,-	COSMIC,
chr17	80147193	80147193	-	TAG	intronic	CCDC57	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|2|67|0.02985	-	-	integument phenotype	-	ICGC,
chr2	38967895	38967895	T	C	intergenic	GALM,SRSF7	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN4911387	-	-	-	-	-,-	-,-	COSMIC,
chr9	96244560	96244560	C	T	intronic	FAM120A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Glaucoma, primary congenital|Autism spectrum disorder  	ICGC,
chr6	160264786	160264786	T	A	intergenic	PNLDC1,MAS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,behavior/neurological phenotype	-,-	ICGC,
chr3	127245639	127245639	T	C	intergenic	LOC101927123,TPRA1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6749108	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr6	156435199	156435199	G	A	intergenic	NOX3,ARID1B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,-	-,Schizophrenia|Nicolaides-Baraitser syndrome|Intellectual disability, plantar fat pads & facial dysmorphism|Intellectual disability, corpus callosum abnormalities, speech impairment & autism|Intellectual disability & speech impairment|Intellectual disability & agenesis of corpus callossum|Intellectual disability  |Developmental delay, dysmorphic features, dysgenesis of the corpus callosum, limb anomalies & genital hypoplasia|Coffin-Siris syndrome|Autism?|Autism spectrum disorder|Autism	ICGC,
chr3	44865288	44865293	CGTGGG	-	intronic	KIF15	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr2	21842468	21842468	C	A	intergenic	APOB,LOC645949	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7798287	-	PACA-CA|1|268|0.00373	-	-	mortality/aging,-	Hypocholesterolaemia, association with|Hypocholesterolaemia|Hypobetalipoproteinemia-induced nonalcoholic steatohepatitis|Hypobetalipoproteinaemia.|Hypobetalipoproteinaemia|Hypertriglyceridaemia |Hypocholesterolaemia, steatosis and liver cancer|Increased apoB and cholesterol levels, association with|Increased cholesterol levels|Increased LDL cholesterol levels|Ischaemic stroke, association with |Oligoasthenoteratozoospermia, association with|Oxidised low-density lipoprotein levels, association with|Total cholesterol levels, association with|Hypercholesterolemia, association with|Hypercholesterolaemia, association with|Altered APOB levels |Altered binding affinity|Aortic stenosis, association with|Apolipoprotein B deficiency|Cerebrovascular disease events, association with|Coronary artery disease, association with|Coronary heart disease|Coronary heart disease, association with|Hypercholesterolaemia ?|Hypercholesterolaemia|Hepatitis C virus infection, association with|HDL cholesterol, association with |Diabetes, MODY|Decreased bone mineral density,-	COSMIC,ICGC,
chr5	97217592	97217592	C	T	intergenic	LINC01340,RGMB	unknown	SNV	-	-	-	-	rs180976253	-	0.000199681	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,-	ICGC,
chr19	22616019	22616019	C	T	intergenic	ZNF98,LOC101929124	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr15	96376147	96376147	G	T	intergenic	LINC00924,NR2F2-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr12	75599156	75599156	A	T	intronic	KCNC2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	Neurodevelopmental delay and ataxia	ICGC,
chr6	162864993	162864993	T	C	intronic	PARK2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype	Parkinson disease, decreased risk|Parkinson disease, early-onset|Parkinson disease, early-onset.|Parkinson disease, familial|Parkinson disease, familial, association with |Parkinson disease, idiopathic|Parkinson disease, in heterozygosity, association|Parkinson disease, late-onset|Parkinson disease, sporadic, reduced risk|Parkinson disease.|Parkinsonism, juvenile, autosomal recessive|Parkinsonism, late-onset, association with|Rolandic epilepsy |Parkinson disease, autosomal recessive|Parkinson disease, association with|Parkinson disease with resting leg tremor|Attention deficit hyperactivity disorder |Autism spectrum disorder|Cervical artery dissection|Dementia with Lewy bodies|Developmental delay  |Dystonia, dopa-responsive|Leprosy, association with|Lewy bodies|Lung adenocarcinoma   |Multiple system atrophy, cerebellar subtype|Parkinson disease|Parkinson disease with dementia.|Parkinson disease with Lewy bodies	ICGC,
chr18	63184401	63184401	C	T	intergenic	LOC284294,CDH7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr9	31834744	31834744	G	C	intergenic	LINC01242,ACO1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Schizophrenia	ICGC,
chr4	21631831	21631831	T	-	intronic	KCNIP4	unknown	deletion	-	-	-	-	-	-	-	-	-	COSN24911521	-	LICA-FR|1|252|0.00397	-	-	-	Renal cell carcinoma 	COSMIC,ICGC,
chr19	47140601	47140601	G	A	intergenic	GNG8,DACT3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20079247	-	-	-	-	-,-	-,-	COSMIC,
chr12	79231570	79231570	A	C	intergenic	NAV3,SYT1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8664869	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,-	COSMIC,ICGC,
chr13	68259641	68259641	C	G	intergenic	PCDH9,LINC00550	unknown	SNV	-	-	-	-	rs570610794	-	-	-	-	-	-	LAML-KR|1|205|0.00488	-	-	-,-	-,-	ICGC,
chr20	44869782	44869782	G	T	exonic	CDH22	nonsynonymous	SNV	0.428	1.0	-	-	-	-	-	-	-	-	COADREAD|1|489|0.00204,READ|1|122|0.00820	LICA-CN|1|402|0.00249	-	-	no phenotypic analysis	-	TCGA,ICGC,
chr5	55699358	55699358	C	T	intergenic	ANKRD55,LOC102467147	unknown	SNV	-	-	-	0.3234	rs10940504	-	0.296126	-	0.406	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	Potential protein deficiency,-	ICGC,
chr19	42507740	42507740	G	A	exonic	GRIK5	nonsynonymous	SNV	0.009	0.995	4.084e-06	-	-	-	-	-	-	COSM6034393	-	-	-	-	integument phenotype	-	COSMIC,COSMIC,
chr10	68168954	68168954	T	C	intronic	CTNNA3	unknown	SNV	-	-	-	0.1975	rs1948946	-	0.243211	-	0.145	-	-	ESAD-UK|1|301|0.00332	-	-	-	Tourette syndrome |Sinus venosus atrial septal defect|Neural tube defects|Cervical artery dissection|Autism spectrum disorder |Attention deficit hyperactivity disorder |Arrhythmogenic right ventricular cardiomyopathy|Alzheimer disease, increased risk, association with |Adenocarcinoma	ICGC,
chr9	110632384	110632384	C	T	intergenic	KLF4,ACTL7B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23088180	-	MELA-AU|1|183|0.00546,MALY-DE|1|241|0.00415	-	-	integument phenotype,-	-,Schizophrenia	COSMIC,ICGC,
chr5	118759883	118759883	G	T	intergenic	TNFAIP8,HSD17B4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,mortality/aging	Cervical cancer, increased risk, association with ,Perrault syndrome|Peroxisome biogenesis disorder|D-bifunctional protein deficiency with male infertility|D-bifunctional protein deficiency|Cerebellar hypoplasia	ICGC,
chr19	7250990	7250990	G	A	intronic	INSR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Insulin resistance A|Leprechaunism|Obesity & learning disability|Polycystic ovary syndrome, in lean women, association with|Potential protein deficiency|Rabson-Mendenhall syndrome|Rabson-Mendenhall syndrome.|Reduced diastolic blood pressure, association with|Insulin resistance|Fibre-type disproportion myopathy, congenital|Acanthosis nigricans|Acanthosis nigricans, insulin related|Colorectal cancer, increased risk, association with |Diabetes mellitus, type 2, association with|Diabetes, NIDDM|Diabetes, type 2, association with|Diabetes, type 2, protection against|Donohue syndrome.	ICGC,
chr17	56128699	56128699	C	G	intergenic	SRSF1,LOC101927666	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22165863	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging,-	-,-	COSMIC,ICGC,
chr11	64004573	64004573	G	A	intronic	VEGFB	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN18721392	-	-	-	-	mortality/aging	-	COSMIC,
chr8	8658668	8658668	T	G	intronic	MFHAS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25752577	-	EOPC-DE|1|202|0.00495	-	-	-	-	COSMIC,ICGC,
chr4	92318506	92318506	A	C	intronic	CCSER1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	-	ICGC,
chr13	94139253	94139253	G	A	intronic	GPC6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Omodysplasia|Pancreatic cancer 	ICGC,
chrX	102494856	102494856	G	A	intergenic	BEX4,TCEAL8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Potential protein deficiency,-	ICGC,
chr6	123955083	123955083	C	T	intronic	TRDN	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21840616	-	BRCA-EU|1|569|0.00176	-	-	behavior/neurological phenotype	Catecholaminergic polymorphic ventricular tachycardia	COSMIC,ICGC,
chr17	8055038	8055038	G	A	intronic	PER1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Autism|Diurnal preference, association with |Increased sex hormone-binding globulin levels	ICGC,
chr1	189854156	189854156	A	T	intergenic	NONE,BRINP3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr4	156430425	156430425	C	A	intergenic	MAP9,GUCY1A3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,mortality/aging	-,Myocardial infarction, increased risk |Achalasia & moyamoya	ICGC,
chr21	24976061	24976061	A	T	intergenic	D21S2088E,LOC101927869	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr10	18937343	18937343	T	G	intronic	NSUN6	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23153977	-	MALY-DE|1|241|0.00415	-	-	-	-	COSMIC,ICGC,
chr22	47292353	47292353	A	C	intronic	TBC1D22A	unknown	SNV	-	-	-	0.5761	rs4378909	-	0.505391	-	0.529	-	-	LAML-KR|2|205|0.00976	-	-	-	-	ICGC,
chr6	108441092	108441092	C	T	intergenic	OSTM1,NR2E1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,vision/eye phenotype	Osteopetrosis, autosomal recessive|Osteopetrosis, craniosynostosis, and Chiari malformation type I,Microcephaly 	ICGC,
chr1	7372469	7372469	-	GTCT	intronic	CAMTA1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	Ataxia, non-progressive congenital|Developmental delay & learning disability|Impaired episodic memory performance, association with	ICGC,
chr18	24563288	24563288	G	-	intronic	CHST9	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr1	59359971	59359971	C	T	ncRNA_intronic	LINC01135	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr10	34356576	34356576	G	A	intergenic	LINC00838,PARD3	unknown	SNV	-	-	-	3.228e-05	rs767346997	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Neural tube defects	ICGC,
chr5	1879663	1879663	C	T	exonic	IRX4	nonsynonymous	SNV	0.199	0.824	4.082e-06	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	cardiovascular system phenotype	Congenital heart disease |Prostate cancer, susceptibility to 	ICGC,
chr1	104011306	104011306	A	G	intronic	LOC101928436	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr7	85677435	85677435	T	C	intergenic	SEMA3D,GRM3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-,behavior/neurological phenotype	Total anomalous pulmonary venous connection|Tetralogy of Fallot|Hirschsprung disease   ,Schizophrenia, association with|Major depressive disorder, association with	ICGC,
chr22	23281754	23281754	C	T	intergenic	IGLL5,RTDR1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	39792079	39792079	C	G	intergenic	UBE2K,PDS5A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN152588	-	-	-	-	cellular phenotype,mortality/aging	-,-	COSMIC,
chr2	1042104	1042104	A	T	intronic	SNTG2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	CMDI-UK|1|136|0.00735	-	-	-	Autism spectrum disorder  |Schizophrenia  	ICGC,
chr13	66862546	66862546	G	A	intergenic	NONE,PCDH9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	29757392	29757392	G	T	intergenic	MIR4275,PCDH7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr6	161115785	161115785	C	G	intergenic	LPA,PLG	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21604574	-	BRCA-EU|1|569|0.00176	-	-	-,integument phenotype	Severe coronary artery disease, association with|Myocardial infaction, reduced risk, association with|Lp(a) deficiency|Lower plasma apo(a) concentration, association|Lower plasma apo(a) concentration|Increased plasma apo(a) concentration|Increased oxidized phospholipid levels, association with|High total cholesterol  |Fish intake / LPA concentration, association with|Decreased translation|Autism spectrum disorder,Plasminogen deficiency, severe type I|Plasminogen deficiency|Invasive aspergillosis, susceptibility|Haemolytic uraemic syndrome, atypical.|Haemolytic uraemic syndrome, atypical	COSMIC,ICGC,
chr19	31544786	31544786	A	T	intergenic	ZNF536,TSHZ3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	Schizophrenia,-	ICGC,
chr4	127425064	127425064	A	T	intergenic	MIR2054,INTU	unknown	SNV	-	-	-	0.7990	rs4834129	-	0.921526	-	-	COSN25836906	-	EOPC-DE|1|202|0.00495	-	-	-,mortality/aging	-,Anorectal malformation	COSMIC,ICGC,
chr7	38514092	38514092	T	G	intronic	AMPH	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813,LICA-FR|1|252|0.00397	-	-	mortality/aging	-	ICGC,
chr7	145112400	145112400	A	T	intergenic	TPK1,CNTNAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9935387	-	RECA-EU|1|422|0.00237	-	-	-,integument phenotype	Thiamine pyrophosphokinase deficiency|Leigh-like disease|Colorectal cancer, increased risk, association with |Autism,Gilles de la Tourette syndrome|Intellectual disability  |Learning disability & speech problems|Mental retardation |Mental retardation, Pitt-Hopkins-like|Multiple congenital anomalies  |Seizures, neonatal |Speech delay  |Stuttering |Epileptic encephalopathy  |Epilepsy and schizophrenia|Autism|Autism spectrum disorder |Autism spectrum disorder, modifier of|Childhood apraxia of speech|Cortical dysplasia-focal epilepsy syndrome|Developmental and/or speech and/or behavioural problems|Developmental delay  |Developmental delay & dysmorphic features|Dyslexia 	COSMIC,ICGC,
chr7	115809732	115809732	C	A	intergenic	TFEC,TES	unknown	SNV	-	-	-	0.4946	rs6978849	-	0.560304	-	0.522	COSN18902958	-	-	-	-	integument phenotype,digestive/alimentary phenotype	-,-	COSMIC,
chr11	20988256	20988256	G	A	intronic	NELL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging	Crohn disease, association with	ICGC,
chr11	22622724	22622724	A	G	intergenic	LOC102723378,FANCF	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Fanconi anaemia F|Fanconi anaemia	ICGC,
chr2	195891734	195891734	C	A	intergenic	LOC101927431,SLC39A10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr1	181729881	181729881	G	A	intronic	CACNA1E	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	Autism|Diabetes, type 2, association with	ICGC,
chr10	102940989	102940989	C	T	ncRNA_intronic	LOC101927396	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr2	59429324	59429324	A	T	intergenic	LINC01122,LOC101927285	unknown	SNV	-	-	-	0.0214	rs12475111	-	0.0479233	-	0.036	-	-	LAML-KR|1|205|0.00488	-	-	-,-	-,-	ICGC,
chr8	89901430	89901430	A	G	intergenic	MMP16,RIPK2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	mortality/aging,hematopoietic system phenotype	-,Autism spectrum disorder	ICGC,
chr17	48760015	48760015	C	T	intronic	ABCC3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype	Reduced transport activity|Reduced transcriptional activity|Reduced event-free survival, in acute lymphoblastic leukaemia, association with|Potential protein deficiency|Null allele|Altered mRNA expression|Abnormal intracellular accumulation	ICGC,
chr18	29016311	29016311	C	T	intergenic	LOC101927718,DSG3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,-	ICGC,
chr14	93429239	93429239	G	A	intronic	ITPK1	unknown	SNV	-	-	2.733e-05	9.706e-05	rs745645901	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	skeleton phenotype	Autism spectrum disorder|Neural tube defects, increased risk, association with	ICGC,
chr12	33763629	33763629	G	A	intergenic	SYT10,ALG10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	behavior/neurological phenotype,-	-,-	ICGC,
chr1	163158687	163158687	G	A	ncRNA_intronic	LOC101928404	unknown	SNV	-	-	-	3.278e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr21	41647630	41647630	G	T	intronic	DSCAM	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	mortality/aging	Bipolar disorder, association with 	ICGC,
chr18	33082940	33082940	T	C	intergenic	INO80C,MIR3975	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6120349	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr2	126533116	126533116	C	T	intergenic	CNTNAP5,GYPC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Autism,Glycophorin C variant|Gerbich-negative blood group|Elliptocytosis|Duch blood group	ICGC,
chr6	27839780	27839780	A	G	exonic	HIST1H3I	nonsynonymous	SNV	-	-	-	-	-	-	-	-	-	COSM5641552	-	-	-	-	-	-	COSMIC,
chr3	11629702	11629702	G	A	intronic	VGLL4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr4	88839475	88839477	CGT	-	intergenic	MEPE,SPP1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	skeleton phenotype,integument phenotype	-,Increased inflammatory activity of the liver, association with|Lower apoB levels|Multiple sclerosis, age of onset, association with |Multiple sclerosis, susceptibility, association with |Muscular dystrophy, Duchenne, modifier of|Increased carotid intima-media thickness, association with|Glioma, increased risk, association with|Glioma, decreased risk, association with|Altered transcriptional activity|Calcium urolithiasis, association with|Carotid intima-media thickness, association with|Decreased E/A ratio in hypertensive patients|Diabetes, type 1, association with	ICGC,
chr14	26142996	26142996	C	T	intergenic	STXBP6,NOVA1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,-	ICGC,
chr9	110747720	110747721	TG	-	intergenic	KLF4,ACTL7B	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	integument phenotype,-	-,Schizophrenia	ICGC,
chr2	104381299	104381299	C	T	intergenic	TMEM182,LOC100287010	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|3|183|0.01639	-	-	-,-	-,-	ICGC,
chr8	66426248	66426248	T	G	intergenic	LINC00251,LINC01299	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	-,-	-,-	ICGC,
chr3	164300851	164300851	C	T	intergenic	LINC01192,SI	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Sucrase isomaltase deficiency	ICGC,
chr1	57713928	57713928	-	T	intronic	DAB1	unknown	insertion	-	-	-	6.692e-05	rs370647392	-	-	-	-	-	-	ESAD-UK|1|301|0.00332,BRCA-EU|2|569|0.00351,PRAD-UK|1|140|0.00714	-	-	mortality/aging	Syndromic cleft lip & palate	ICGC,
chr3	120639363	120639363	T	G	intronic	STXBP5L	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	homeostasis/metabolism phenotype	Autism spectrum disorder	ICGC,
chr13	103729468	103729468	G	A	intergenic	SLC10A2,MIR548AS	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	digestive/alimentary phenotype,-	Bile acid malabsorption, primary|Colorectal adenoma, increased risk, association with|Hypertriglyceridaemia |Impaired taurocholate transport|Potential protein deficiency,-	ICGC,
chr8	72425296	72425296	G	A	intergenic	EYA1,MSC	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20232472	-	PACA-CA|1|268|0.00373	-	-	mortality/aging,mortality/aging	Oto-facio-cervical syndrome|Peters' anomaly with cataracts|Renal hypodysplasia|Renal malformation|Ureteropelvic junction obstruction and reduced renal function|Iris anomaly|Hearing loss?|Deafness  |Cayler's cardiofacial syndrome|Cataract, autosomal dominant|Branchio-oto-renal syndrome|Branchio-oto-renal / branchiootic syndrome|Branchio-otic syndrome,-	COSMIC,ICGC,
chr8	79700749	79700749	A	G	intronic	IL7	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7677910	-	PACA-CA|1|268|0.00373	-	-	hematopoietic system phenotype	Increased expression	COSMIC,ICGC,
chr8	114153143	114153143	T	C	intronic	CSMD3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-	Schizophrenia  |Colorectal cancer 	ICGC,
chr10	87673895	87673895	C	T	intronic	GRID1	unknown	SNV	-	-	-	0.0016	rs115485982	-	0.00279553	-	-	COSN26933928	-	UTCA-FR|1|20|0.05000	-	-	skeleton phenotype	Autism spectrum disorder, association with	COSMIC,ICGC,
chr5	39253935	39253935	C	T	intronic	FYB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype	-	ICGC,
chr7	65794417	65794417	T	-	intronic	TPST1	unknown	deletion	-	-	-	3.274e-05	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312,BRCA-EU|2|569|0.00351	-	-	reproductive system phenotype	-	ICGC,
chr3	1074241	1074241	C	G	intergenic	LINC01266,CNTN6	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25737407	-	EOPC-DE|1|202|0.00495	-	-	-,behavior/neurological phenotype	-,Intellectual disability  	COSMIC,ICGC,
chr8	92829008	92829008	G	A	intergenic	SLC26A7,RUNX1T1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	digestive/alimentary phenotype,integument phenotype	-,Intellectual disability  	ICGC,
chr12	60345335	60345335	G	A	intergenic	SLC16A7,FAM19A2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Autism spectrum disorder,-	ICGC,
chr1	50205625	50205625	G	A	intronic	AGBL4	unknown	SNV	-	-	-	0.0002	rs374956074	-	0.000199681	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Autism spectrum disorder, association with	ICGC,
chrX	78080559	78080559	T	A	intergenic	LPAR4,MIR4328	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype,-	-,-	ICGC,
chr5	163791969	163791969	C	A	intergenic	MAT2B,LOC101927835	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr14	47200774	47200774	C	A	intergenic	RPL10L,MDGA2	unknown	SNV	-	-	-	0.0912	rs10147737	-	0.077476	-	0.072	-	-	ESAD-UK|2|301|0.00664	-	-	-,skeleton phenotype	-,-	ICGC,
chr4	42328736	42328736	T	G	intergenic	BEND4,SHISA3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,normal phenotype	-,-	ICGC,
chr20	11360801	11360801	C	A	intergenic	LOC339593,LINC00687	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	NKTL-SG|1|50|0.02000	-	-	-,-	-,-	ICGC,
chr16	61578784	61578784	A	G	intergenic	LOC729159,CDH8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	EOPC-DE|1|202|0.00495	-	-	-,integument phenotype	-,Learning disability  |Autism & learning disability 	ICGC,
chr11	42898183	42898183	G	A	intergenic	LOC100507205,HNRNPKP3	unknown	SNV	-	-	-	3.231e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr20	42661020	42661020	G	T	intronic	TOX2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr7	84679796	84679796	G	A	intronic	SEMA3D	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Total anomalous pulmonary venous connection|Tetralogy of Fallot|Hirschsprung disease   	ICGC,
chr18	2530233	2530233	G	A	intergenic	LINC00470,METTL4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr16	7780435	7780435	G	A	intergenic	RBFOX1,TMEM114	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Muscular and feet abnormalities|Mental retardation|Epilepsy, rolandic  |Epilepsy|Developmental delay, facial dysmorphism  |Developmental delay and transposition of the great arteries|Developmental delay and diplegia|Developmental delay and craniosynostosis|Developmental delay  |Cardiac defects|Cardiac abnormalities, micrognathia and scoliosis|Autism spectrum disorder|Autism|Attention deficit hyperactivity disorder ,Developmental delay|Cataract, congenital	ICGC,
chr2	179434742	179434742	-	T	exonic	TTN	frameshift	insertion	-	-	-	-	rs869312077	-	-	-	-	-	-	-	Primary_dilated_cardiomyopathy	-	mortality/aging	Muscular dystrophy, limb girdle 2J|Myopathy|Myopathy with cellular aggregates|Potential protein deficiency|Tibial muscular dystrophy|Titinopathy|Muscular dystrophy  |Limb girdle muscular dystrophy 2J|Arrhythmogenic right ventricular cardiomyopathy|Arthrogryposis multiplex congenita with axoglial defects|Cardiac dysrhythmia|Cardiomyopathy, dilated|Cardiomyopathy, hypertrophic|Centronuclear myopathy	ClinVar,
chr1	65577301	65577301	A	G	intergenic	MIR101-1,AK4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22314829	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr16	80357076	80357076	C	T	ncRNA_intronic	LOC102724084	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr9	44889779	44889779	G	C	intergenic	LOC101927827,FAM27C	unknown	SNV	-	-	-	0.0847	-	-	-	-	-	COSN20421263	-	COCA-CN|3|321|0.00935,PBCA-US|1|186|0.00538	-	-	-,-	-,-	COSMIC,COSMIC,COSMIC,ICGC,
chr8	38469601	38469601	G	A	intergenic	RNF5P1,TACC1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	166926686	166926686	G	A	intergenic	BCHE,ZBBX	unknown	SNV	-	-	-	3.232e-05	-	-	-	-	-	-	-	PRAD-UK|1|140|0.00714	-	-	mortality/aging,-	Serum cholinesterase deficiency|Potential protein deficiency|Obesity and triglyceride levels, association with|Hypocholinesterasaemia|Fronto-temporal dementia, association with|Cholinesterasaemia|Butyrylcholinesterase variant|Butyrylcholinesterase deficiency|Addiction to crack cocaine, association with|Acholinesterasaemia,-	ICGC,
chr3	38601321	38601321	C	T	intronic	SCN5A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging	Rapid ventricular tachycardia & intraventricular conduction delay|QTc interval, association with|QRS interval, association with|Phenotype modifier, association with|Nodal rhythm|Negative shift activation|Multifocal ectopic Purkinje-related premature contractions.|LQT3, conduction disorder, dilated cardiomyopathy|Longer QT interval, association with |Long QT syndrome.|Long QT syndrome, malignant perinatal variant|Long QT syndrome, drug-associated|Long QT syndrome and idiopathic ventricular fibrillation|Long QT syndrome and dilated cardiomyopathy|Long QT syndrome and Brugada syndrome|Long QT syndrome 3.|Romano-Ward syndrome|Sick sinus syndrome   |Sick sinus syndrome, autosomal recessive |Ventricular fibrillation, idiopathic|Ventricular fibrillation in coronary artery disease|Ventricular fibrillation during acute myocardial infarction|Ventricular arrhythmia, association with|SUDEP / epilepsy|Sudden unexplained nocturnal death syndrome, association with|Sudden unexplained nocturnal death syndrome|Sudden unexplained death  |Sudden infant death syndrome, association with|Sudden infant death syndrome  |Sudden cardiac death|Sudden adult death syndrome|Slow inactivation and negative shft inactivation|Sick sinus syndrome/Brugada syndrome|Sick sinus syndrome, conduction disease and Brugada syndrome|Ventricular tachycardia  |Arrhythmia, lidocaine-induced|Cardiac conduction disease|Cardiac arrhythmia, increased risk, association|Brugada-like ST elevation.|Brugada-like ST elevation|Brugada syndrome.|Brugada syndrome, lidocaine-induced|Brugada syndrome, asymptomatic|Brugada syndrome and epilepsy|Brugada syndrome|Brugada and short QT syndrome|Atrioventricular conduction block|Atrioventricular block, idiopathic|Atrial standstill|Atrial fibrillation|Arrhythmogenic right ventricular dysplasia  |Cardiac conduction disease and long QT syndrome|Cardiac sinus node dysfunction|Cardiac sinus node dysfunction.|Long QT syndrome 3, with concealed Brugada syndrome..|Long QT syndrome 2|Long QT syndrome & atrial fibrillation|Long QT syndrome|Lone atrial fibrillation, early-onset|Lone atrial fibrillation, association with|Lenegre-Lev disease|Increase in QT dispersion, association with|Idiopathic ventricular arrhythmia.|Cardiac sodium channelopathies|Cardiomyopathy, dilated|Dilated cardiomyopathy|Early repolarization syndrome|Electrocardiographic Traits, association with|Fever-induced arrhythmia|Heart block type 1	ICGC,
chr15	83265433	83265433	G	A	intronic	CPEB1	unknown	SNV	-	-	-	0.0005	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	reproductive system phenotype	-	ICGC,
chr9	140173938	140173938	A	G	exonic	TOR4A	nonsynonymous	SNV	0.002	1.0	-	-	-	-	-	-	-	-	-	GACA-JP|1|585|0.00171	-	-	-	-	ICGC,
chr10	45720516	45720516	A	G	intergenic	ANKRD30BP3,OR13A1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6072187	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr2	82109598	82109598	A	G	intergenic	LOC100507201,LOC1720	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr11	1122684	1122684	C	T	intergenic	MUC2,MUC5B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	immune system phenotype,-	Crohn's disease, association with|Gastric cancer, association with,Schizophrenia|Pulmonary fibrosis, association with|Interstitial lung disease, association with	ICGC,
chr10	98383249	98383249	G	A	exonic	PIK3AP1	nonsynonymous	SNV	0.004	0.874	-	-	-	-	-	-	-	COSM1702857	SKCM|1|368|0.00272	SKCM-US|1|335|0.00299	-	-	hematopoietic system phenotype	-	COSMIC,COSMIC,TCGA,ICGC,
chr8	106128677	106128677	A	T	intergenic	LRP12,ZFPM2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,integument phenotype	-,Atrial septal defect & gonadal dysgenesis|Diaphragmatic hernia, congenital|Double outlet right ventricle |Gonadal dysgenesis |Reduced activity|Tetralogy of Fallot 	ICGC,
chr18	34540613	34540613	G	T	intronic	KIAA1328	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6664360	-	LICA-FR|1|252|0.00397	-	-	-	-	COSMIC,ICGC,
chr1	208390500	208390500	G	C	exonic	PLXNA2	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM5659015	-	-	-	-	vision/eye phenotype	Tetralogy of Fallot	COSMIC,
chr9	79364042	79364042	C	T	intronic	PRUNE2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	Schizophrenia	ICGC,
chrX	114344960	114344960	C	T	downstream	LRCH2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	normal phenotype	-	ICGC,
chr5	62148718	62148718	G	T	intergenic	IPO11,HTR1A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,Tourette syndrome |Reduced expression|Personality disorders, association with.|Menstrual cycle-dependent fever|Major depression and suicide, association with|Major depression|Impulsive behaviour, association with|Epileptic seizures |Comorbid depression and generalized anxiety, association with|Attenuated agonist-mediated receptor down-regulation and desensitization	ICGC,
chr6	79190746	79190746	T	C	intergenic	MEI4,IRAK1BP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,no phenotypic analysis	-,-	ICGC,
chr2	70640224	70640226	GAG	-	intergenic	FAM136A,TGFA	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,integument phenotype	-,-	ICGC,
chr4	135406062	135406062	A	C	intergenic	PABPC4L,LINC00613	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	Autism spectrum disorder  ,-	ICGC,
chr4	58985173	58985173	A	C	intergenic	IGFBP7-AS1,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr20	19362066	19362066	C	T	intronic	SLC24A3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr2	222632488	222632488	C	A	intergenic	EPHA4,PAX3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	reproductive system phenotype,integument phenotype	Amyotrophic lateral sclerosis, reduced disease severity,Waardenburg syndrome type I|Waardenburg syndrome III|Waardenburg syndrome I.|Waardenburg syndrome I|Waardenburg syndrome|Spina bifida  |Reduced transcription|Hearing loss, syndromic|Craniofacial-deafness-hand syndrome	ICGC,
chr6	102046817	102046817	G	C	intronic	GRIK2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	behavior/neurological phenotype	Mental retardation, non-syndromic, autosomal recessive	ICGC,
chr16	51552085	51552085	G	A	intergenic	SALL1,LOC101927364	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	mortality/aging,-	Townes-Brocks syndrome|Renal hypodysplasia|Multiple congenital anomalies, CNS defects, cortical blindness, and absence of psychomotor development|Lenz microphthalmia syndrome|Goldenhar syndrome ,-	ICGC,
chr9	102773226	102773226	A	C	intronic	ERP44	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5693514	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr3	54233216	54233216	C	A	intronic	CACNA2D3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26262647	-	PRAD-UK|1|140|0.00714	-	-	integument phenotype	Autism 	COSMIC,ICGC,
chr9	14672866	14672866	G	A	exonic	ZDHHC21	nonsynonymous	SNV	0.0	0.999	-	-	-	-	-	-	-	COSM5503446	-	BTCA-JP|1|239|0.00418	-	-	integument phenotype	-	COSMIC,ICGC,
chr12	82779103	82779103	T	-	intronic	METTL25	unknown	deletion	-	-	-	3.239e-05	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-	-	ICGC,
chr10	19794059	19794059	G	A	intronic	MALRD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr1	1416376	1416376	G	A	intronic	ATAD3B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17085105	-	-	-	-	-	-	COSMIC,
chr6	350847	350847	G	A	exonic	DUSP22	stopgain	SNV	-	-	-	-	-	-	-	-	-	COSM1661602	-	-	-	-	-	Cleft palate, hearing impairment, microcephaly, micrognathia and psychomotor retardation	COSMIC,
chr3	168954222	168954222	G	T	intronic	MECOM	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Decreased expression|Thrombocytopaenia with aplastic anaemia	ICGC,
chr7	40747595	40747595	C	A	intronic	SUGCT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-	-	ICGC,
chr11	57382709	57382709	C	T	downstream	SERPING1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	cardiovascular system phenotype	Vasculitic neuropathy|Macular degeneration, age related, association with|Angioneurotic oedema|Angioedema, hereditary.|Angioedema, hereditary	ICGC,
chr16	7757650	7757650	G	A	intronic	RBFOX1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging	Muscular and feet abnormalities|Mental retardation|Epilepsy, rolandic  |Epilepsy|Developmental delay, facial dysmorphism  |Developmental delay and transposition of the great arteries|Developmental delay and diplegia|Developmental delay and craniosynostosis|Developmental delay  |Cardiac defects|Cardiac abnormalities, micrognathia and scoliosis|Autism spectrum disorder|Autism|Attention deficit hyperactivity disorder 	ICGC,
chr5	22170357	22170357	G	A	intronic	CDH12	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Lung cancer, susceptibility to, association with	ICGC,
chr5	46326401	46326401	G	A	intergenic	HCN1,NONE	unknown	SNV	-	-	-	0.0003	-	-	-	-	-	COSN20530167	-	COCA-CN|1|321|0.00312	-	-	integument phenotype,-	Idiopathic epilepsy, generalised ,-	COSMIC,ICGC,
chr19	54667515	54667515	C	A	exonic	TMC4	nonsynonymous	SNV	-	0.002	-	-	-	-	-	-	-	COSM2150703	GBM|1|290|0.00345,GBMLGG|1|820|0.00122	GBM-US|1|276|0.00362	-	-	-	-	COSMIC,TCGA,ICGC,
chrX	139565898	139565898	C	T	intergenic	LOC389895,SOX3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,mortality/aging	-,XX male sex reversal with growth retardation & microcephaly|XX male sex reversal with genital abnormalities|XX male sex reversal|Potential protein deficiency|Pituitary hormone deficiency, combined|Mental retardation with growth hormone deficiency|Hypopituitarism|Hypoparathyroidism|Hypertrichosis, congenital generalised |Hyperphagia & developmental delay	ICGC,
chr18	70942812	70942812	C	A	intergenic	LOC400655,LOC100505817	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr10	1925512	1925512	A	C	intergenic	ADARB2,LINC00700	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr13	25407707	25407707	G	A	intronic	RNF17	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	reproductive system phenotype	-	ICGC,
chr2	34551835	34551835	G	C	intergenic	MYADML,LOC100288911	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23321603	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	COSMIC,ICGC,
chr5	103064198	103064198	T	A	intergenic	NUDT12,RAB9BP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	1380959	1380959	G	A	intergenic	CLPTM1L,SLC6A3	unknown	SNV	-	-	-	0.0725	rs36035218	-	0.0922524	-	0.036	-	-	ESAD-UK|2|301|0.00664,LAML-KR|1|205|0.00488	-	-	-,integument phenotype	Cleft lip and palate, syndromic & neuro-psychomotor developmental delay,Dystonia-parkinsonism, infantile|Idiopathic epilepsy, generalised, association with|Idiopathic intellectual disability, association with|Mood instability in bipolar disorder patients, association with|Parkinson disease, neuroprotection in East Asians, association with|Parkinson disease, protection against, association |Parkinson disease, susceptibility to|Posttraumatic stress disorder, association with.|Schizophrenia, association with|Short-term response to smoking cessation, association|Dorsal anterior cingulate function in ADHD, association with|Dopamine transporter deficiency syndrome|Alcoholism, association with|Attention deficit hyperactivity disorder, association with|Attention deficit hyperactivity disorder, association with.|Attention-deficit hyperactivity disorder, association|Attention-deficit hyperactivity disorder, association with|Attention-deficit hyperactivity disorder, in adults, association with.|Attention-deficit/hyperactivity disorder|Autism|Bipolar affective disorder|Cocaine dependence, association with	ICGC,
chr11	22133164	22133164	A	T	intergenic	NELL1,ANO5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Crohn disease, association with,Persistent asymptomatic hyperCKemia|Myopathy of posterior calf muscles, late-onset|Myopathy / muscular dystrophy|Myopathy  |Muscular dystrophy, limb girdle 2L.|Muscular dystrophy, limb girdle 2L|Muscular dystrophy  |Miyoshi-like distal myopathy|Miyoshi myopathy, non-dysferlin|Miyoshi distal myopathy.|Miyoshi distal myopathy|Gnathodiaphyseal dysplasia|Autism 	ICGC,
chr8	112039527	112039527	-	AA	intergenic	KCNV1,CSMD3	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|2|67|0.02985	-	-	behavior/neurological phenotype,-	-,Schizophrenia  |Colorectal cancer 	ICGC,
chr12	77243122	77243122	C	-	intronic	ZDHHC17	unknown	deletion	-	-	0.0004	-	rs377129335	0.0011	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	behavior/neurological phenotype	-	ICGC,
chr17	7385908	7385908	C	T	exonic	SLC35G6	nonsynonymous	SNV	0.06	0.704	7.722e-05	6.463e-05	rs189169938	5.766e-05	-	0.0002	-	COSM6781833	-	-	-	-	-	Potential protein deficiency	COSMIC,
chr4	88959381	88959381	G	A	intronic	PKD2	unknown	SNV	-	-	0.6029	0.6657	rs2725221	0.6039	0.696286	0.6594	0.703	-	-	COCA-CN|4|321|0.01246,LUSC-KR|2|170|0.01176	not_specified	-	mortality/aging	Polycystic kidney disease, neonatal-onset|Polycystic kidney disease, autosomal dominant|Polycystic kidney disease and dilated cardiomyopathy.|Polycystic kidney disease 2|Polycystic kidney disease	ClinVar,ICGC,
chr12	1606959	1606959	C	T	intergenic	ERC1,LINC00942	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,-	Childhood apraxia of speech,-	ICGC,
chr9	111956667	111956667	C	T	exonic	EPB41L4B	nonsynonymous	SNV	0.173	0.961	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312,MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr6	11426636	11426636	G	C	intergenic	NEDD9,TMEM170B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27136085	-	ESAD-UK|1|301|0.00332	-	-	hematopoietic system phenotype,-	Alzheimer and Parkinson disease, association with,-	COSMIC,ICGC,
chr1	153536739	153536739	-	A	intronic	S100A2	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN14678824	-	-	-	-	-	-	COSMIC,
chr6	146437147	146437147	C	T	intronic	GRM1	unknown	SNV	-	-	-	0.0001	-	-	-	-	-	COSN15887539	-	PACA-CA|1|268|0.00373	-	-	integument phenotype	Schizophrenia / bipolar disorder |Schizophrenia  |Cerebellar ataxia, autosomal recessive congenital|Attention deficit hyperactivity disorder	COSMIC,ICGC,
chr14	59776846	59776846	T	-	intronic	DAAM1	unknown	deletion	-	-	-	-	-	-	-	-	0.145	-	-	LMS-FR|1|67|0.01493	-	-	mortality/aging	Congenital heart defect  	ICGC,
chr13	41551055	41551061	CTACCTT	-	intronic	ELF1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	hematopoietic system phenotype	-	ICGC,
chr19	48519280	48519280	A	C	exonic	ELSPBP1	nonsynonymous	SNV	0.123	0.999	-	-	-	-	-	-	-	COSM4400822	SKCM|1|368|0.00272	SKCM-US|1|335|0.00299	-	-	-	-	COSMIC,TCGA,ICGC,
chr8	137374258	137374258	A	G	intergenic	KHDRBS3,FAM135B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2264025	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr12	117718926	117718926	C	G	intronic	NOS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	mortality/aging	Schizophrenia, association with |Psychopathology in schizophrenia, association with|Lower FENO in asthmatics, association with|Impulsive behaviour, association with|Frontotemporal lobar degeneration, association with|Cystic fibrosis, modifier of|Asthma, association with|Alzheimer disease, association with 	ICGC,
chr9	113534108	113534108	C	A	intronic	MUSK	unknown	SNV	-	-	-	0.0092	rs78729065	-	0.00499201	-	-	-	-	ESAD-UK|2|301|0.00664	-	-	integument phenotype	Limb-girdle congenital myasthenic syndrome, salbutamol-responsive|Congenital myasthenic syndrome	ICGC,
chr4	24151980	24151980	C	T	intergenic	PPARGC1A,MIR573	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7481761	-	PACA-AU|1|391|0.00256	-	-	mortality/aging,-	Neovascularization in age-related macular degeneration, reduced risk|Left ventricular diastolic dysfunction in men, association with|Insulin resistance, association with|Increased risk for HCM|Hyperinsulinemia, HOMA-IR indices and abdominal obesity, association with|Huntington disease, age-at-onset in males, association with|Endurance-related phenotypes, association with|Diabetic nephropathy, association with|Diabetes, type 2, lower risk, association with|Diabetes, type 2, association with|Breast cancer|Body mass index, association with|Blood pressure, association with,-	COSMIC,ICGC,
chr9	12513772	12513772	G	A	intergenic	PTPRD-AS2,TYRP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Albinism, oculocutaneous  |Albinism, oculocutaneous 3|Melanesian blond hair	ICGC,
chr11	93797701	93797701	C	T	intronic	HEPHL1	unknown	SNV	-	-	4.741e-05	-	rs769203015	1.817e-05	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-	Potential protein deficiency	ICGC,
chr16	70540893	70540893	G	A	intronic	COG4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	Congenital disorder of glycosylation 2 	ICGC,
chr15	44907722	44907722	G	T	exonic	SPG11	stopgain	SNV	-	-	-	-	rs786204176	-	-	-	-	-	-	-	Spastic_paraplegia_11,_autosomal_recessive|not_provided	-	-	Spastic paraplegia, autosomal recessive|Spastic paraplegia, atypical|Spastic paraplegia with thin corpus callosum|Spastic paraplegia|Kjellin syndrome|Amyotrophic lateral sclerosis, juvenile|Amyotrophic lateral sclerosis  	ClinVar,
chr1	9742602	9742602	T	C	intronic	PIK3CD	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	hematopoietic system phenotype	T cell senescence & immunodeficiency|Immunodeficiency, primary B-cell |Hyper-IgM syndrome|Activated PI3K-delta syndrome	ICGC,
chr8	39286960	39286960	G	A	intergenic	ADAM5,ADAM3A	unknown	SNV	-	-	-	0.0511	rs79209665	-	0.0988419	-	0.065	-	-	LAML-KR|1|205|0.00488	-	-	-,reproductive system phenotype	-,-	ICGC,
chr11	56073115	56073115	T	A	intergenic	OR8H1,OR8K3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,-	Autism,Autism spectrum disorder|Olfactory receptor deficiency 	ICGC,
chr15	56289682	56289682	-	CACAAA	intergenic	NEDD4,RFX7	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	mortality/aging,-	-,-	ICGC,
chr11	50560465	50560465	G	A	intergenic	LOC646813,OR4A5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	-,-	ICGC,
chr14	46915778	46915778	A	T	ncRNA_intronic	LINC00871	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9614593	-	RECA-EU|1|422|0.00237	-	-	-	-	COSMIC,ICGC,
chr14	69682096	69682096	G	A	intronic	EXD2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	UTCA-FR|1|20|0.05000	-	-	-	-	ICGC,
chr2	26863556	26863556	G	A	intronic	CIB4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr2	195056605	195056605	C	T	intergenic	PCGEM1,LOC101927406	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	66214427	66214427	G	A	intronic	EPHA5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	nervous system phenotype	Mental retardation|Dravet syndrome  |Attention deficit hyperactivity disorder & learning disabilities|Alzheimer disease  	ICGC,
chr19	51441062	51441062	-	CTCTTTCT	intergenic	KLK4,KLK5	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	mortality/aging,-	Amelogenesis imperfecta|Prostate cancer, reduced risk, association with,-	ICGC,
chr7	10858022	10858022	C	T	intergenic	PER4,NDUFA4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Complex I deficiency|Cytochrome c oxidase deficiency	ICGC,
chr4	143458914	143458929	GTGTGTGTGTGTGTGA	-	intronic	INPP4B	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	hematopoietic system phenotype	-	ICGC,
chr17	53517616	53517616	T	C	intergenic	MMD,TMEM100	unknown	SNV	-	-	-	0.6843	rs4793793	-	0.707069	-	0.696	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,-	ICGC,
chr7	2509366	2509366	-	CAGAAAGA	intergenic	LOC101927181,GRIFIN	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr5	165848611	165848611	C	T	intergenic	LOC102546299,CTB-7E3.1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr4	19991751	19991751	G	A	intergenic	LCORL,SLIT2	unknown	SNV	-	-	-	9.695e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Schizophrenia  	ICGC,
chr7	50019074	50019074	G	T	intronic	ZPBP	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	reproductive system phenotype	Teratozoospermia 	ICGC,
chr7	4372193	4372193	T	G	intergenic	SDK1,FOXK1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Autism	ICGC,
chr3	154647585	154647585	T	A	intergenic	GPR149,MME	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	reproductive system phenotype,integument phenotype	-,Alzheimer disease, association with|Anxiety, association with|Cerebral amyloid angiopathy, severity, association with|Fetomaternal alloimmunisation|Increased enzyme activity|Reduced enzyme activity	ICGC,
chr4	169418289	169418289	G	T	UTR5	PALLD	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	-	Carcinoma_of_pancreas	-	mortality/aging	Myocardial infarction, association with |Pancreatic cancer	ClinVar,
chr8	50010774	50010774	C	A	intergenic	C8orf22,SNTG1	unknown	SNV	-	-	-	3.23e-05	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,Autism|Intellectual disability, cleft palate, hearing loss and dysmorphisms	ICGC,
chr19	13941547	13941547	C	T	exonic	ZSWIM4	nonsynonymous	SNV	0.001	1.0	-	-	-	-	-	-	-	COSM6033081	-	-	-	-	-	-	COSMIC,COSMIC,
chr2	76487199	76487199	G	A	intergenic	GCFC2,LRRTM4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr4	173216293	173216293	C	T	intronic	GALNTL6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	CMDI-UK|1|136|0.00735	-	-	-	-	ICGC,
chr9	83491570	83491570	G	C	intergenic	LOC101927477,TLE1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20152142	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	COSMIC,ICGC,
chr1	186192388	186192388	G	C	ncRNA_intronic	MIR548F1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	-	ICGC,
chr2	130820177	130820177	C	T	intergenic	FAR2P1,POTEF	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	88251924	88251924	G	T	ncRNA_intronic	MEF2C-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr18	52780443	52780443	-	T	ncRNA_intronic	LOC101927229	unknown	insertion	-	-	-	0.2515	rs397956454	-	0.242013	-	0.058	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr20	41753472	41753472	G	C	intronic	PTPRT	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5764965	-	LINC-JP|1|394|0.00254	-	-	homeostasis/metabolism phenotype	Intellectual disability, behavioural problems, microcephaly & cardiac defect|Attention deficit hyperactivity disorder 	COSMIC,ICGC,
chrX	30260977	30260977	G	T	exonic	MAGEB4	nonsynonymous	SNV	0.001	0.998	5.594e-06	-	rs370810015	1.141e-05	-	-	-	COSM1165289	-	-	-	-	-	-	COSMIC,
chr4	171339947	171339947	A	G	intergenic	AADAT,LOC100506122	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	vision/eye phenotype,-	-,-	ICGC,
chr8	65982890	65982890	C	T	intergenic	CYP7B1,LINC00251	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Spastic paraplegia 5a.|Spastic paraplegia 5a|Spastic paraplegia 5 with sensory ataxia|Spastic paraplegia 5|Spastic paraplegia|Increased transcriptional activity|HIV 1 infection, reduced risk, association with|Cholestasis, severe,-	ICGC,
chr8	5244606	5244606	G	A	intergenic	CSMD1,LOC100287015	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Schizophrenia, association with |Hyperinsulinism|Autism|Attention deficit hyperactivity disorder ,-	ICGC,
chr3	106364735	106364735	G	A	intergenic	CBLB,LINC00882	unknown	SNV	-	-	-	3.229e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Diabetes, type 1,-	ICGC,
chr15	35423846	35423846	T	C	intergenic	ZNF770,ANP32AP1	unknown	SNV	-	-	-	3.256e-05	-	-	-	-	-	COSN7043612	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	COSMIC,ICGC,
chr10	109948996	109948996	-	A	intergenic	SORCS1,RNU6-53P	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	other phenotype,-	Autism ,-	ICGC,
chr6	82760457	82760457	G	A	intergenic	FAM46A,IBTK	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,hematopoietic system phenotype	Tuberculosis, susceptibility to ,-	ICGC,
chr1	241067936	241067936	G	A	intronic	RGS7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Intellectual disability  |Autism spectrum disorder  	ICGC,
chr4	86880317	86880317	C	T	intronic	ARHGAP24	unknown	SNV	-	-	-	-	rs140669358	-	-	-	-	COSN25867142	-	EOPC-DE|1|202|0.00495	-	-	-	Autism spectrum disorder|Focal segmental glomerulosclerosis 	COSMIC,ICGC,
chr6	104246970	104246970	G	A	intergenic	GRIK2,HACE1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,tumorigenesis	Mental retardation, non-syndromic, autosomal recessive,Wilms tumour 	ICGC,
chr1	52740258	52740258	T	C	splicing	ZFYVE9	splicing	SNV	-	-	-	-	-	-	-	-	-	-	PAAD|1|185|0.00541	-	-	-	-	-	TCGA,
chr5	40966692	40966692	G	A	intronic	C7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Haemolytic uraemic syndrome, reduced susceptibility|Complement C7 deficiency	ICGC,
chr13	45037107	45037107	A	G	intronic	TSC22D1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1610363	-	LIRI-JP|1|258|0.00388	-	-	hematopoietic system phenotype	-	COSMIC,ICGC,
chr21	42824679	42824679	G	A	exonic	MX1	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM6526279	-	-	-	-	-	SARS coronavirus infection, reduced risk|Reduced promoter activity|Panencephalitis, sclerosing, association with|Increased expression|Enterovirus 71 infection, lower risk|Eenterovirus 71 infection, lower risk|Altered interferon response in hepatitis C patients	COSMIC,
chr2	45144695	45144695	C	A	intergenic	CAMKMT,SIX3-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CN|1|65|0.01538	-	-	-,-	-,-	ICGC,
chr10	59594250	59594250	C	T	intergenic	MIR3924,IPMK	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,mortality/aging	-,-	ICGC,
chr17	36158765	36158765	T	-	intergenic	HNF1B,YWHAEP7	unknown	deletion	-	-	-	-	-	-	-	-	-	COSN24957437	-	LICA-FR|1|252|0.00397	-	-	mortality/aging,-	Pancreatic agenesis and multicystic renal dysplasia|Pancreas hypoplasia & multicystic renal dysplasia|Nephropathy |Multicystic kidney disease|Multicystic dysplastic kidney.|MODY, renal dysfunction, genital malformation|Mayer-Rokitansky-Küster-Hauser syndrome |Kidney and urinary tract abnormalities (CAKUT).|Kidney and urinary tract abnormalities (CAKUT)|Pancreatic hypoplasia and multicystic renal dysplasia|Polycystic thyroid and urogenital malformations|Potential protein deficiency|Uterine and renal malformations|Tetralogy of Fallot|Renal tract malformation|Renal hypodysplasia|Renal disease |Renal cysts and diabetes.|Renal cysts and diabetes syndrome|Renal cysts and diabetes|Renal carcinoma|Juvenile hyperuricemic nephropathy, familial|Hypomagnesemia  |Diabetes, early onset, renal dysfunction|Diabetes, early onset, association |Diabetes mellitus, type 2|Cystic renal disease|Cholestatic jaundice|Bilateral renal hypodysplasia|Autism and schizophrenia|Antenatal hyperechogenic kidneys |Abdominal muscles, absence, with urinary tract anomalies & cryptorchidism|Diabetes, early-onset, renal dysfunction & struct abnormalities|Diabetes, early-onset, structural abnormalities|Diabetes, MODY|Hyperuricaemic nephropathy|Hyperparathyroidism|Hyperechogenic kidneys|Hypercholesterolaemia|GCKD with early-onset diabetes|Enlarged nephrons and severe nondiabetic nephropathy|Diabetic nephropathy|Diabetes, type 2, association with|Diabetes, MODY5  ,-	COSMIC,ICGC,
chr10	54053295	54053295	T	G	intronic	PRKG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Thoracic aortic aneurysms and dissections	ICGC,
chr20	59690036	59690036	C	T	intergenic	LOC100506470,CDH4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,cellular phenotype	-,Reduced expression	ICGC,
chr8	65285164	65285164	A	G	upstream	MIR124-2HG	unknown	SNV	-	-	-	0.0088	rs118025342	-	0.00459265	-	0.014	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr11	27609252	27609252	C	T	ncRNA_intronic	BDNF-AS	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|3|183|0.01639	-	-	-	-	ICGC,
chr1	168953638	168953638	C	T	ncRNA_intronic	LINC00970	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr6	33936576	33936576	A	T	intergenic	MIR7159,MIR1275	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chrX	97377170	97377170	G	T	intergenic	DIAPH2,XRCC6P5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22244579	-	BRCA-EU|1|569|0.00176	-	-	cardiovascular system phenotype,-	Premature ovarian failure,-	COSMIC,ICGC,
chr7	63697380	63697383	AAAG	-	intronic	ZNF679	unknown	deletion	-	-	-	0.0063	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr21	22609204	22609204	C	T	intronic	NCAM2	unknown	SNV	-	-	-	0.4933	rs2826745	-	0.453674	-	0.536	-	-	ESAD-UK|2|301|0.00664,LAML-KR|1|205|0.00488	-	-	taste/olfaction phenotype	-	ICGC,
chr4	27634492	27634492	G	A	intergenic	STIM2,MIR4275	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN18893755	-	-	-	-	integument phenotype,-	-,-	COSMIC,
chr6	80297633	80297633	C	T	intergenic	LCA5,SH3BGRL2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	vision/eye phenotype,-	Leber congenital amaurosis|Retinal dystrophy, early-onset|Retinitis pigmentosa,-	ICGC,
chr6	73100336	73100336	G	A	exonic	RIMS1	nonsynonymous	SNV	0.003	0.94	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Autism|Cone-rod dystrophy|Retinitis pigmentosa, autosomal dominant	ICGC,
chr2	124521126	124521126	-	T	intergenic	TSN,CNTNAP5	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|2|268|0.00746	-	-	hematopoietic system phenotype,-	-,Autism	ICGC,
chr19	11546374	11546374	C	T	UTR5	PRKCSH	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Polycystic liver disease	ICGC,
chr15	33900264	33900264	C	G	intronic	RYR3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LAML-KR|1|205|0.00488	-	-	behavior/neurological phenotype	Schizophrenia|Hyperinsulinism|Breast cancer, increased risk, association with  	ICGC,
chr2	45286434	45286434	C	T	intergenic	SIX2,LINC01121	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,-	Renal hypodysplasia,-	ICGC,
chrX	98697492	98697492	T	C	intergenic	DIAPH2,XRCC6P5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	cardiovascular system phenotype,-	Premature ovarian failure,-	ICGC,
chr7	8552475	8552475	T	G	intronic	NXPH1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Breast cancer, increased risk  	ICGC,
chr7	112833868	112833868	C	T	intergenic	LINC00998,PPP1R3A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,growth/size phenotype	-,Insulin resistance, association with|Insulin resistance|Glycemia variation, association with	ICGC,
chr5	32472381	32472381	C	T	intergenic	ZFR,SUB1	unknown	SNV	-	-	-	0.1832	rs2008484	-	0.203075	-	0.145	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	Spastic paraplegia 71|Schizophrenia,-	ICGC,
chr5	22332303	22332303	G	T	intronic	CDH12	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-	Lung cancer, susceptibility to, association with	ICGC,
chr3	161808112	161808112	T	G	intergenic	OTOL1,LINC01192	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr16	23014466	23014466	T	-	intergenic	HS3ST2,USP31	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	ICGC,
chr13	83957133	83957133	C	T	intergenic	NONE,SLITRK1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8136447	-	PACA-CA|1|268|0.00373	-	-	-,mortality/aging	-,Trichotillomania|Tourette syndrome|Obsessive-compulsive disorder |Attention deficit hyperactivity disorder 	COSMIC,COSMIC,ICGC,
chr16	6332739	6332739	C	T	intronic	RBFOX1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26655884	-	LICA-CN|1|402|0.00249	-	-	mortality/aging	Muscular and feet abnormalities|Mental retardation|Epilepsy, rolandic  |Epilepsy|Developmental delay, facial dysmorphism  |Developmental delay and transposition of the great arteries|Developmental delay and diplegia|Developmental delay and craniosynostosis|Developmental delay  |Cardiac defects|Cardiac abnormalities, micrognathia and scoliosis|Autism spectrum disorder|Autism|Attention deficit hyperactivity disorder 	COSMIC,ICGC,
chr9	90990597	90990597	T	A	intergenic	SPATA31C2,SPIN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr7	121551093	121551093	G	A	intronic	PTPRZ1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	-	ICGC,
chr3	63057244	63057244	C	T	intergenic	CADPS,LINC00698	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,-	-,-	ICGC,
chr3	116493795	116493795	A	T	intergenic	TUSC7,LINC00901	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr3	191876215	191876215	-	TCT	intronic	FGF12	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	behavior/neurological phenotype	-	ICGC,
chr8	142884974	142884974	C	T	intergenic	MROH5,MIR4472-1	unknown	SNV	-	-	-	-	rs780734448	-	-	-	-	COSN16782993	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	COSMIC,ICGC,
chr7	77753998	77753998	-	AC	intronic	MAGI2	unknown	insertion	-	-	-	0.0246	rs143567278	-	0.0375399	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Seizures|Schizophrenia|Myoclonic epilepsy |Infantile spasms in Williams-Beuren syndrome|Infantile spasms|Developmental delay & microcephaly|Developmental delay  |Developmental and/or speech and/or behavioural problems	ICGC,
chr9	105138479	105138479	C	T	intergenic	GRIN3A,LINC00587	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|3|183|0.01639	-	-	vision/eye phenotype,-	Schizophrenia, increased risk |Schizophrenia |Potential protein deficiency,-	ICGC,
chr2	160037897	160037897	C	T	intronic	TANC1	unknown	SNV	-	-	-	6.515e-05	rs545729252	-	0.00239617	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	Schizophrenia	ICGC,
chr8	65269530	65269530	C	T	intergenic	LINC01289,MIR124-2HG	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr7	85694520	85694520	G	T	intergenic	SEMA3D,GRM3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,behavior/neurological phenotype	Total anomalous pulmonary venous connection|Tetralogy of Fallot|Hirschsprung disease   ,Schizophrenia, association with|Major depressive disorder, association with	ICGC,
chr5	55546254	55546254	A	G	intergenic	ANKRD55,LOC102467147	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	Potential protein deficiency,-	ICGC,
chr8	83329614	83329614	C	T	intergenic	SNX16,LINC01419	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	ICGC,
chr13	72908291	72908291	T	C	intergenic	DACH1,MZT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	Renal hypodysplasia,-	ICGC,
chr14	83549257	83549257	C	T	intergenic	LOC101928559,NONE	unknown	SNV	-	-	-	-	rs777826573	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr7	107924556	107924556	A	G	intronic	NRCAM	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging	-	ICGC,
chr4	133031565	133031565	T	A	intergenic	NONE,PCDH10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,Schizophrenia|Potential protein deficiency	ICGC,
chr2	7603489	7603489	C	T	intergenic	LOC100506274,LOC101929551	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr2	185628408	185628408	C	T	intronic	ZNF804A	unknown	SNV	-	-	-	3.973e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Neurodevelopmental disease|Reduced cortical gray matter thickness|Schizophrenia and bipolar disorder, association with|Schizophrenia, association with  	ICGC,
chr8	56272796	56272796	G	A	intronic	XKR4	unknown	SNV	-	-	-	3.229e-05	-	-	-	-	-	COSN2280882	-	LIRI-JP|1|258|0.00388	-	-	-	Glaucoma, primary congenital	COSMIC,COSMIC,ICGC,
chr5	28223373	28223373	T	A	intergenic	LINC01021,LSP1P3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	-,-	ICGC,
chr20	40496319	40496319	T	C	intergenic	CHD6,PTPRT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	behavior/neurological phenotype,homeostasis/metabolism phenotype	Mental retardation with brachydactyly of toes,Intellectual disability, behavioural problems, microcephaly & cardiac defect|Attention deficit hyperactivity disorder 	ICGC,
chr6	31225447	31225447	G	T	intergenic	HCG27,HLA-C	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN14582413	-	PACA-AU|1|391|0.00256	-	-	-,-	-,Reduced HIV viral load, association with|Psoriasis, association with|HLA-C null allele|HLA-C low expression allele|HIV, slower progression to AIDS|Altered expression	COSMIC,COSMIC,COSMIC,COSMIC,COSMIC,ICGC,
chr5	124161775	124161775	-	A	intergenic	ZNF608,LOC101927421	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	ICGC,
chr2	133650587	133650587	-	AA	ncRNA_intronic	MIR7853	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	-	ICGC,
chr22	36102749	36102749	G	A	intergenic	APOL6,APOL5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20772844	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	-,-	Metabolic syndrome, increased risk,Schizophrenia	COSMIC,COSMIC,ICGC,
chr1	240174589	240174589	G	A	ncRNA_intronic	RPS7P5	unknown	SNV	-	-	-	3.23e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr5	124872521	124872521	G	A	ncRNA_intronic	LOC101927460	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr18	27566167	27566167	A	C	intergenic	CDH2,MIR302F	unknown	SNV	-	-	-	9.691e-05	rs779716858	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	Reduced expression|Potential protein deficiency|Alzheimer disease  ,-	ICGC,
chr12	45119880	45119880	A	G	intronic	NELL2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21132405	-	BRCA-EU|1|569|0.00176	-	-	nervous system phenotype	-	COSMIC,ICGC,
chr17	12853641	12853641	G	A	intronic	ARHGAP44	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr4	27541581	27541581	G	T	intergenic	STIM2,MIR4275	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,-	-,-	ICGC,
chr6	122028087	122028087	A	G	intergenic	GJA1,HSF2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype,mortality/aging	Sudden infant death syndrome |Oculodentodigital dysplasia with primary lymphoedema|Oculodentodigital dysplasia|Neurologic dysfunction|Heart malformations|Hallerman-Streiff/ODDD syndrome|Ectodermal & oculodentodigital dysplasia with skin hyperkeratosis|Attenuated phenotype in glaucoma |Cleft lip in oculodentodigital dysplasia.|Craniometaphyseal dysplasia|Deafness|Deafness, autosomal recessive,Idiopathic azoospermia	ICGC,
chr5	20425358	20425358	C	T	intronic	CDH18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Anorectal malformation	ICGC,
chr15	71050510	71050510	A	C	intronic	UACA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype	Colorectal cancer |Schizophrenia	ICGC,
chr19	54828449	54828449	C	T	intergenic	LILRA5,LILRA4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr14	40413234	40413234	C	T	intergenic	FBXO33,LOC644919	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr8	12387094	12387094	C	T	ncRNA_intronic	LOC100506990	unknown	SNV	-	-	-	0.0026	rs868710280	-	-	-	-	COSN23940986	-	LAML-KR|2|205|0.00976	-	-	-	-	COSMIC,COSMIC,ICGC,
chr2	224490957	224490957	-	ACATA	intergenic	SCG2,AP1S3	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN26398868	-	-	-	-	-,-	Hypertension, association with,Pustular psoriasis	COSMIC,
chr4	126691953	126691953	C	T	intergenic	MIR2054,INTU	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,mortality/aging	-,Anorectal malformation	ICGC,
chr1	16246559	16246559	A	T	intronic	SPEN	unknown	SNV	-	-	-	0.0074	rs567413149	-	0.00898562	-	-	-	-	PACA-CA|1|268|0.00373,PBCA-US|1|186|0.00538	-	-	integument phenotype	-	ICGC,
chr7	147460408	147460408	G	T	intronic	CNTNAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CN|1|65|0.01538	-	-	integument phenotype	Gilles de la Tourette syndrome|Intellectual disability  |Learning disability & speech problems|Mental retardation |Mental retardation, Pitt-Hopkins-like|Multiple congenital anomalies  |Seizures, neonatal |Speech delay  |Stuttering |Epileptic encephalopathy  |Epilepsy and schizophrenia|Autism|Autism spectrum disorder |Autism spectrum disorder, modifier of|Childhood apraxia of speech|Cortical dysplasia-focal epilepsy syndrome|Developmental and/or speech and/or behavioural problems|Developmental delay  |Developmental delay & dysmorphic features|Dyslexia 	ICGC,
chr18	49668993	49668993	G	A	intergenic	LOC100287225,DCC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Altered p53 transactivation|Colorectal cancer, risk, association with |Mirror movements, congenital	ICGC,
chr5	58057683	58057683	G	T	intronic	RAB3C	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17190638	-	PACA-CA|1|268|0.00373	-	-	mortality/aging	-	COSMIC,ICGC,
chr19	57160977	57160977	G	C	intronic	SMIM17	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr12	39566381	39566381	T	C	intergenic	CPNE8,KIF21A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17421142	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,CFEOM1 & Marcus Gunn jaw-winking syndrome|Congenital fibrosis of the extraocular muscles 1|Congenital fibrosis of the extraocular muscles 1 & Möbius syndrome	COSMIC,ICGC,
chr19	23078108	23078108	G	C	intergenic	ZNF99,ZNF728	unknown	SNV	-	-	-	-	rs9676876	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,-	Potential protein deficiency,-	ICGC,
chr2	132067592	132067592	G	A	intergenic	LOC440910,WTH3DI	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	241066198	241066198	G	A	exonic	MYEOV2	nonsynonymous	SNV	0.0	0.979	4.873e-05	3.23e-05	rs375690134	3.295e-05	-	7.7e-05	-	COSM1614608	-	LINC-JP|1|394|0.00254	-	-	-	-	COSMIC,ICGC,
chr11	59826587	59826587	A	C	intronic	MS4A3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	Serum VitB12 level, association with	ICGC,
chr12	52717544	52717544	G	A	intergenic	KRT83,KRT85	unknown	SNV	-	-	-	0.1996	rs73311144	-	0.175519	-	0.152	-	-	ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488	-	-	-,-	Autism spectrum disorder|Monilethrix|Potential protein deficiency,Ectodermal dyplasia, hair-nail type	ICGC,
chrY	17096351	17096351	C	G	intergenic	NLGN4Y,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	Autism  ,-	ICGC,
chr3	151545625	151545625	G	T	exonic	AADAC	stopgain	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	Tourette syndrome |Reduced enzyme activity	ICGC,
chr5	32064892	32064892	A	G	intronic	PDZD2	unknown	SNV	-	-	-	0.0023	-	-	-	-	-	COSN25723793	-	EOPC-DE|1|202|0.00495	-	-	behavior/neurological phenotype	Schizophrenia	COSMIC,ICGC,
chr19	52793578	52793578	G	T	exonic	ZNF766	nonsynonymous	SNV	0.079	0.004	-	-	-	-	-	-	-	COSM4744916	-	-	-	-	-	-	COSMIC,COSMIC,
chr4	102976011	102976011	C	T	intronic	BANK1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	hematopoietic system phenotype	Systemic sclerosis, susceptibility to, association with|Systemic lupus erythematosus, protection against, association|Rheumatoid arthritis|Psoriasis, early disease onset, association with.|Diffuse systemic sclerosis, susceptibility to, association with	ICGC,
chr22	41421293	41421293	G	A	intergenic	RBX1,MIR1281	unknown	SNV	-	-	-	0.2645	rs55776715	-	0.251797	-	0.152	COSN17005754	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	-,-	COSMIC,ICGC,
chr5	21060974	21060974	G	C	intergenic	CDH18,GUSBP1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16845223	-	PACA-CA|1|268|0.00373	-	-	-,-	Anorectal malformation,-	COSMIC,ICGC,
chr6	106370419	106370419	G	A	intergenic	PREP,PRDM1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype,mortality/aging	-,Crohn's disease, increased risk, association with|Ulcerative colitis, reduced risk, association with  	ICGC,
chr3	67979679	67979679	C	T	ncRNA_intronic	SUCLG2-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|3|183|0.01639	-	-	-	-	ICGC,
chr9	120432240	120432240	T	C	intergenic	LOC101928797,TLR4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Phenotypic variation in haemochromatosis, association with|Periodontitis, association with|Pancreatic necrotic infection, association with|Negative association with FMF|Nasopharyngeal cancer, increased risk, association with|Moraxella catarrhalis infection, increased risk, association with|Metabolic syndrome, association with|Meningococcal disease susceptibility|Meningococcal disease mortality|Lung function, association with|Lower left ventricular mass, in hypertensive women, association|Increased risk of cirrhosis in chronic hepatitis C ?|Increased liver and body fat, association with|Potential protein deficiency|Preterm birth and premature rupture of membranes, association with|Tuberculosis susceptibility, in HIV-infected patients, association|Serious infection, in HIV-1 patients, association with|Retinitis pigmentosa |Reduced LPS-induced IL-12 secretion, association with|Reduced expression|Pulmonary tuberculosis, susceptibility and severity, association|Pulmonary tuberculosis, severity, association with|Protection from urinary tract infection, association with|Protection against being overweight|Prostate cancer, increased risk|Prostate cancer risk, association with|Primary open-angle, normal-tension, and exfoliation glaucoma, association with.|Typhoid infection, increased risk, association with|Increased IL-4 secretion response to measles vaccination, association|Cutaneous leishmaniasis, association with|Crohn's disease, association with|Colorectal cancer, association with.|Colorectal cancer risk, association with|Cervical cancer, early stage, association with|Cancer, increased risk, association with|Bronchopulmonary Dysplasia, infant, association with|Breast cancer, association with.|Behcet disease, protection against, association with|Altered monocyte receptor levels|Acute pyelonephritis, reduced risk in adults, association with|Acute pyelonephritis, in children, association with|Diabetes, type 2, protection against, association with|Digestive system cancer, increased risk & prostate cancer, protection against, association with|Emphysema, association with|Increased expression|Helicobacter pylori-related gastric atrophy, association with|HBV recurrence after liver transplantation, association with|Guillain-Barré syndrome, association with|Guillain-Barré syndrome, AMAN sub-type, association with|Gastritis, association with|Gastric carcinoma, association with|Endometriosis, association with|Endotoxin hyporesponsiveness, association with|Extra-intestinal manifestations in Crohn's disease, association with.|Gastric adenocarcinoma, association with|Gastric cancer, association with	ICGC,
chr6	130642876	130642876	C	T	intronic	SAMD3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr13	75063984	75063984	G	A	intergenic	LINC00381,LINC00347	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr21	11048863	11048863	T	C	intronic	BAGE2,BAGE3,BAGE4,BAGE5	unknown	SNV	-	-	-	-	rs10454189	-	-	-	-	COSN1252985	-	-	-	-	-,-,-,-	-,-,-,-	COSMIC,
chr9	37579917	37579917	C	T	intergenic	FBXO10,TOMM5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23437010	-	EOPC-DE|1|202|0.00495	-	-	-,mortality/aging	Autism,-	COSMIC,ICGC,
chr5	153677621	153677621	C	T	exonic	GALNT10	nonsynonymous	SNV	0.05	0.998	-	-	-	-	-	-	-	COSM3245471	-	-	-	-	normal phenotype	-	COSMIC,COSMIC,
chr5	3816099	3816099	T	C	intergenic	IRX1,LOC101929153	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17544110	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr17	67535747	67535747	T	A	intronic	MAP2K6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype	-	ICGC,
chr1	211545976	211545976	G	A	exonic	TRAF5	nonsynonymous	SNV	1.0	0.0	0.0004	0.0004	rs149314484	0.0003	-	0.0004	-	COSM4764531	-	-	-	-	hematopoietic system phenotype	-	COSMIC,
chr6	151703641	151703641	C	T	intronic	ZBTB2	unknown	SNV	-	-	-	3.263e-05	-	-	-	-	-	COSN7694458	-	PACA-AU|1|391|0.00256	-	-	-	-	COSMIC,ICGC,
chr18	35206952	35206952	T	G	intergenic	CELF4,MIR4318	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	Developmental & behavioural disorders, seizures, eye manifestations & obesity,-	ICGC,
chrX	57348938	57348938	C	T	intronic	FAAH2	unknown	SNV	-	-	-	-	rs372868773	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-	Intellectual disability, X-linked|Autism spectrum disorder	ICGC,
chr8	62289929	62289929	T	A	intronic	CLVS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr11	45979972	45979972	T	A	intronic	PHF21A	unknown	SNV	-	-	-	0.2371	-	-	-	-	-	-	-	LAML-KR|1|205|0.00488	-	-	mortality/aging	Potocki-Shaffer syndrome with intellectual disability & craniofacial anomalies|Intellectual disability & craniofacial anomalies|Developmental delay & hypotonia	ICGC,
chr10	37550243	37550243	T	C	intergenic	ANKRD30A,LINC00993	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr3	151327121	151327121	G	A	intergenic	MIR5186,MIR548H2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	19063588	19063588	T	A	intergenic	LOC401177,CDH18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,Anorectal malformation	ICGC,
chr15	24615925	24615925	G	A	intergenic	PWRN2,PWRN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	101140817	101140817	G	A	intergenic	LINC01349,VCAM1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20327232	-	PAEN-AU|1|52|0.01923	-	-	-,mortality/aging	-,Stroke, protection against, association with |Increased promoter activity|Increased adhesion of monocytes to endothelial cells	COSMIC,ICGC,
chr2	39272007	39272007	A	G	intronic	SOS1	unknown	SNV	-	-	-	0.0001	rs79457473	-	-	-	-	COSN27602517	-	SKCA-BR|1|100|0.01000,LUSC-KR|1|170|0.00588	-	-	integument phenotype	Ulerythema ophryogenes in Noonan syndrome.|Reduced activity|Noonan syndrome|Gingival fibromatosis|Diabetes, type 2, association with|Congenital heart disease|Cardiomyopathy, hypertrophic.|Cardiomyopathy, hypertrophic|Cardio-facio-cutaneous syndrome|Autism spectrum disorder	COSMIC,ICGC,
chr2	193439056	193439056	C	A	intergenic	TMEFF2,PCGEM1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1814655	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging,-	-,-	COSMIC,ICGC,
chr3	99853611	99853611	T	C	intronic	CMSS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr2	22547045	22547045	T	C	intergenic	LOC645949,LOC102723362	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr3	71372560	71372560	A	T	intronic	FOXP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Speech delay, contractures, hypertonia & blepharophimosis|Mental retardation, speech and language deficits|Intellectual disability & autism|Intellectual disability|Delayed speech/motor development & Chiari I malformation|Congenital heart defects|Childhood apraxia of speech|Autism, speech delay and deficit of motor coordination|Autism spectrum disorder  	ICGC,
chr2	188949935	188949935	T	C	intergenic	TFPI,GULP1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1813070	-	LIRI-JP|1|258|0.00388	-	-	integument phenotype,-	Increased plasma TFPI|Lower plasma TFPI|Reduced expression|Thrombophilia, association with,-	COSMIC,ICGC,
chr5	171585974	171585974	C	A	intronic	STK10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	immune system phenotype	Schizophrenia|Decreased pro-apoptotic activity|Asthma, aspirin-intolerant, reduced risk	ICGC,
chr3	89837952	89837952	G	T	intergenic	EPHA3,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Oligozoospermia|Schizophrenia    |Sertoli-cell-only syndrome,-	ICGC,
chr10	108083291	108083291	C	A	intergenic	LOC101927549,SORCS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-JP|1|585|0.00171	-	-	-,other phenotype	-,Autism 	ICGC,
chr20	30583434	30583434	C	T	intronic	XKR7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr1	72485360	72485360	G	T	intronic	NEGR1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	EOPC-DE|1|202|0.00495	-	-	behavior/neurological phenotype	Obesity, association with|Dyslexia |Body mass index, association with|Attention deficit hyperactivity disorder	ICGC,
chr8	20317108	20317108	G	T	intergenic	LZTS1-AS1,LOC286114	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr20	29435228	29435228	C	T	intergenic	NONE,FRG1B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr3	174104986	174104986	G	T	intergenic	NLGN1,NAALADL2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging,-	Microcephaly, seizure disorder & intellectual disability |Autism spectrum disorder  |Autism|Anorectal malformation,-	ICGC,
chr8	87339688	87339688	C	A	intergenic	SLC7A13,WWP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,skeleton phenotype	-,-	ICGC,
chr14	40807944	40807944	G	T	intergenic	FBXO33,LOC644919	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	ICGC,
chr8	32149523	32149523	C	T	intronic	NRG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Sudden cardiac death, association with|Schizophrenia, association with  |Schizophrenia in African Americans, association with|Prepulse inhibition, association with|Perceptual aberration of schizotypal personality, association with|Increased lateral ventricle volume in schizophrenia|Hirschsprung disease|Developmental delay, hypotonia & microcephaly|Alzheimers disease, association with	ICGC,
chr4	14060945	14060945	T	A	intergenic	LINC01182,LINC01085	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21823438	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr9	10314280	10314280	G	A	intronic	PTPRD	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	CMDI-UK|1|136|0.00735	-	-	integument phenotype	Restless legs syndrome, association with|Ewing sarcoma	ICGC,
chr20	19595298	19595298	G	A	intronic	SLC24A3	unknown	SNV	-	-	-	9.686e-05	rs751581692	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-	-	ICGC,
chr7	35697748	35697748	A	T	intronic	HERPUD2	unknown	SNV	-	-	-	0.3045	rs28802328	-	0.267772	-	0.355	COSN20425719	-	LAML-KR|2|205|0.00976	-	-	-	-	COSMIC,ICGC,
chr2	107439734	107439734	A	C	intronic	ST6GAL2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr1	199075206	199075206	T	G	intergenic	LINC01222,NR5A2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,-	ICGC,
chr12	50650955	50650955	C	T	intronic	LIMA1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ORCA-IN|1|178|0.00562	-	-	-	-	ICGC,
chr9	140003436	140003436	A	G	UTR3	MAN1B1	unknown	SNV	-	-	0.0009	0.0015	rs575316488	0.0004	0.00119808	-	-	-	-	-	Intellectual_Disability,_Recessive	-	-	Congenital disorder of glycosylation  |End-stage liver disease, early onset, association with|Intellectual disability, nonsyndromic, autosomal recessive	ClinVar,
chr5	165279135	165279135	C	A	intergenic	LOC102546299,CTB-7E3.1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	ICGC,
chr10	83832737	83832737	C	T	intronic	NRG3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Schizophrenia, association with |Increased ventrolateral PFC activation|Hirschsprung disease  	ICGC,
chr21	23996913	23996913	G	A	intergenic	LINC00308,D21S2088E	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr7	52777201	52777201	C	T	intergenic	COBL,POM121L12	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	nervous system phenotype,-	-,-	ICGC,
chr3	117230992	117230992	C	A	intergenic	LINC00901,IGSF11	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr5	6071074	6071074	A	T	intergenic	ICE1,FLJ33360	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr10	74850929	74850929	A	T	intronic	P4HA1	unknown	SNV	-	-	-	9.929e-05	-	-	-	-	-	COSN7068172	-	-	-	-	integument phenotype	-	COSMIC,
chr4	44437302	44437302	C	T	intronic	KCTD8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr11	134648960	134648960	C	A	intergenic	LOC283177,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN10081666	-	RECA-EU|1|422|0.00237	-	-	-,-	-,-	COSMIC,ICGC,
chr4	39707533	39707533	G	C	intronic	UBE2K	unknown	SNV	-	-	-	0.0006	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	cellular phenotype	-	ICGC,
chr13	67555676	67555676	T	A	ncRNA_intronic	PCDH9-AS3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1621223	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr7	143066781	143066781	-	A	intergenic	FAM131B,ZYX	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|2|67|0.02985	-	-	-,cellular phenotype	-,-	ICGC,
chr1	102472448	102472448	G	A	intergenic	OLFM3,COL11A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,Stickler syndrome, type 2|Stickler syndrome|Robin sequence |Osteoarthritis, early-onset|Marshall syndrome|Marshall / Stickler syndrome|Lumbar disc herniation, association with|Fibrochondrogenesis|Deafness  	ICGC,
chr10	116895093	116895093	C	T	intronic	ATRNL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype	Cognitive impairment, autism & dysmorphic features 	ICGC,
chr8	140279279	140279279	G	A	intergenic	COL22A1,KCNK9	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16424167	-	LIRI-JP|1|258|0.00388	-	-	-,respiratory system phenotype	-,Birk Barel mental retardation dysmorphism syndrome	COSMIC,ICGC,
chr20	39219462	39219462	C	T	intergenic	LINC01370,MAFB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,mortality/aging	-,Multicentric carpotarsal osteolysis|Intellectual and developmental disabilities|Cleft lip  	ICGC,
chr17	15169630	15169630	A	G	upstream	PMP22	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	mortality/aging	Roussy-Levy syndrome|Neuropathy, liability to pressure palsies|Hereditary motor & sensory neuropathy|Dejerine-Sottas syndrome.|Dejerine-Sottas syndrome with gastroesophageal reflux syndrome|Dejerine-Sottas syndrome|Charcot-Marie-Tooth type 1 with transient deficits|Charcot-Marie-Tooth disease with slow nerve conduction velocity|Charcot-Marie-Tooth disease with deafness|Charcot-Marie-Tooth disease 1e.|Charcot-Marie-Tooth disease 1E with Dandy-Walker malformation|Charcot-Marie-Tooth disease 1e|Charcot-Marie-Tooth disease 1a|Charcot-Marie-Tooth disease 1|Charcot-Marie-Tooth disease|Axonal neuropathy	ICGC,
chr9	95808255	95808255	A	G	intergenic	FGD3,SUSD3	unknown	SNV	-	-	-	0.2071	rs34600804	-	0.204872	-	0.225	COSN14788183	-	-	-	-	-,-	Autism,-	COSMIC,
chr9	37025305	37025305	G	A	intronic	PAX5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25482935	-	MALY-DE|1|241|0.00415	-	-	mortality/aging	Acute lymphoblastic leukaemia|Autism|Schizophrenia	COSMIC,ICGC,
chr10	14341939	14341939	G	A	intronic	FRMD4A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr9	37600552	37600552	C	T	intergenic	TOMM5,FRMPD1	unknown	SNV	-	-	-	3.229e-05	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	mortality/aging,-	-,-	ICGC,
chrX	122438875	122438875	G	A	intronic	GRIA3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Mental retardation, X-linked|Intellectual disability, X-linked with facial dysmorphism|Intellectual disability, X-linked|Autism spectrum disorder	ICGC,
chr4	180604244	180604244	T	C	intergenic	LINC01098,LINC00290	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	ICGC,
chr2	144541090	144541090	C	A	intergenic	ARHGAP15,LOC101928386	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	hematopoietic system phenotype,-	-,-	ICGC,
chr4	175632278	175632278	A	G	intronic	GLRA3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	integument phenotype	-	ICGC,
chr11	82296420	82296420	C	T	intergenic	LOC101928989,FAM181B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	947573	947573	C	T	intergenic	HES4,ISG15	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,skeleton phenotype	-,Mycobacterial disease, mendelian susceptibility to	ICGC,
chr9	11176449	11176449	C	T	intergenic	PTPRD-AS2,TYRP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Albinism, oculocutaneous  |Albinism, oculocutaneous 3|Melanesian blond hair	ICGC,
chr18	26314115	26314115	C	T	intergenic	CDH2,MIR302F	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	mortality/aging,-	Reduced expression|Potential protein deficiency|Alzheimer disease  ,-	ICGC,
chr7	136685313	136685313	-	TAAG	ncRNA_intronic	LOC349160	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	-	ICGC,
chr20	58786761	58786761	C	T	ncRNA_intronic	MIR646HG	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr10	21530651	21530651	C	T	intergenic	NEBL-AS1,CASC10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	ICGC,
chr4	181056344	181056344	T	C	intergenic	NONE,LINC00290	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr20	30793103	30793103	T	C	intronic	PLAGL2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9125730	-	OV-AU|1|93|0.01075	-	-	mortality/aging	-	COSMIC,ICGC,
chr16	53693474	53693474	C	G	intronic	RPGRIP1L	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	mortality/aging	Retinitis pigmentosa, modifier of|Retinal degeneration in ciliopathies, association with|Meckel-Gruber syndrome|Meckel syndrome|Leber congenital amaurosis|Joubert syndrome|Bardet-Biedl syndrome 	ICGC,
chr7	92247626	92247626	C	T	intronic	CDK6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	mortality/aging	Primary microcephaly	ICGC,
chr20	48493692	48493692	G	T	intronic	SLC9A8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	vision/eye phenotype	-	ICGC,
chr1	11490136	11490136	G	A	intergenic	UBIAD1,PTCHD2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Central discoid corneal dystrophy|Schnyder crystalline corneal dystrophy,-	ICGC,
chr17	7696461	7696461	C	T	exonic	DNAH2	nonsynonymous	SNV	0.0	0.997	8.121e-06	3.229e-05	rs139846922	2.471e-05	-	7.7e-05	-	COSM6486530	-	-	-	-	-	-	COSMIC,
chr3	34388030	34388030	G	A	intergenic	PDCD6IP,LOC101928135	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Hepatocellular carcinoma, increased risk, association with,-	ICGC,
chr12	125058478	125058478	C	A	intergenic	NCOR2,SCARB1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17086764	-	-	-	-	mortality/aging,mortality/aging	Schizophrenia  ,SR-BI protein levels in hyperalphalipoproteinemia|Receptor variant|Lipoprotein levels, association with|Increased HDL cholesterol level, association with|Increased HDL cholesterol|Hypercholesterolaemia ?|HDL cholesterol levels, in women, association with|Age-related macular degeneration, increased risk	COSMIC,
chr7	128478391	128478391	G	A	exonic	FLNC	nonsynonymous	SNV	0.0	1.0	4.061e-06	-	-	-	-	-	-	COSM744615	LUSC|1|178|0.00562	LUSC-US|1|194|0.00515	-	-	integument phenotype	Arrhythmia & myofibrillar myopathy, late-onset|Distal myopathy|Muscular dystrophy, limb-girdle|Myopathy, myofibrillar	COSMIC,TCGA,ICGC,
chr2	179613370	179613370	G	C	exonic	TTN	nonsynonymous	SNV	0.007	0.037	-	-	-	-	-	-	-	COSM6813305	-	-	-	-	mortality/aging	Muscular dystrophy, limb girdle 2J|Myopathy|Myopathy with cellular aggregates|Potential protein deficiency|Tibial muscular dystrophy|Titinopathy|Muscular dystrophy  |Limb girdle muscular dystrophy 2J|Arrhythmogenic right ventricular cardiomyopathy|Arthrogryposis multiplex congenita with axoglial defects|Cardiac dysrhythmia|Cardiomyopathy, dilated|Cardiomyopathy, hypertrophic|Centronuclear myopathy	COSMIC,
chr3	121770327	121770327	G	A	intergenic	ILDR1,CD86	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,hematopoietic system phenotype	Hearing impairment, autosomal recessive |Hearing loss, non-syndromic|Hearing loss, non-syndromic, autosomal recessive  ,Systemic sclerosis, association with|Osteosarcoma, increased risk|Liver transplant, reduced risk of acute rejection|Ewing's Sarcoma, increased risk|Colorectal cancer, increased risk, association with |Colorectal cancer, increased risk|Chronic obstructive pulmonary disease, association with|Asthma, association with	ICGC,
chrX	137216934	137216934	A	G	intergenic	ZIC3,LINC00889	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Situs abnormality|Heterotaxy|Congenital heart disease |Cardiac malformation,-	ICGC,
chr18	47649285	47649285	C	T	intronic	MYO5B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Microvillus inclusion disease	ICGC,
chr17	54725631	54725631	C	T	intergenic	NOG,C17orf67	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	integument phenotype,-	Teunissen-Cremers syndrome|Tarsal/carpal coalition syndrome|Symphalangism, proximal & conductive hearing loss|Symphalangism, proximal|Symphalangism, joint contractures, hyperopia, hearing loss & tracheo-oesophageal fistula|Symphalangism, facial dysmorphology, intellectual disability, ADHD & hearing loss|Stapes ankylosis with broad thumb and toes|Premature ovarian failure and proximal symphalangism|Multiple synostosis syndrome 1, facial dysmorphism & mental retardation|Multiple synostoses syndrome|Fibrodysplasia ossificans progressiva|Facioaudiosymphalangism syndrome|Brachydactyly, type B,-	ICGC,
chr8	115427349	115427349	A	C	intergenic	CSMD3,TRPS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	Schizophrenia  |Colorectal cancer ,Tricho-rhino-phalangeal syndrome with supernumerary teeth|Tricho-rhino-phalangeal syndrome III|Tricho-rhino-phalangeal syndrome I|Tricho-rhino-phalangeal syndrome|Infantile scoliosis & developmental delay|Femoral neck width, association with|Ambras syndrome	ICGC,
chr12	128433027	128433027	C	T	ncRNA_intronic	LINC00507	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr14	82897329	82897329	C	G	intergenic	LOC101928559,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23629513	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr21	22519428	22519428	T	C	intronic	NCAM2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	taste/olfaction phenotype	-	ICGC,
chr9	28500343	28500343	C	T	intronic	LINGO2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Autism spectrum disorder  |Developmental delay with absent speech	ICGC,
chr11	37623622	37623622	A	T	intergenic	C11orf74,LOC103312105	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5304207	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr4	188030521	188030521	C	T	intergenic	FAT1,LOC339975	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2015068	-	LIRI-JP|1|258|0.00388	-	-	integument phenotype,-	Autism,-	COSMIC,ICGC,
chr9	128995600	128995600	G	A	intergenic	PBX3,LOC101929116	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332,PACA-CA|1|268|0.00373	-	-	integument phenotype,-	Congenital heart defects,-	ICGC,
chr8	101126078	101126078	A	T	intergenic	RGS22,FBXO43	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr12	67113608	67113608	C	T	intergenic	GRIP1,LOC102724421	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8664005	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,-	Autism|Fraser syndrome|Schizophrenia and epilepsy,-	COSMIC,ICGC,
chr6	31550172	31550172	C	T	exonic	LTB	nonsynonymous	SNV	0.014	0.959	-	-	-	-	-	-	-	-	-	GBM-US|1|276|0.00362	-	-	mortality/aging	-	ICGC,
chr18	11313947	11313947	G	A	intergenic	PIEZO2,LINC01255	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Marden-Walker syndrome|Lung cancer, susceptibility to in never smokers, association with |Gordon syndrome / arthrogryposis, distal, type 5|Gordon syndrome|Arthrogryposis, distal, type 5,-	ICGC,
chr5	3284588	3284588	C	T	intergenic	LINC01377,LINC01019	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	ICGC,
chr4	182450713	182450713	G	A	intergenic	LINC00290,MGC45800	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	-,-	-,-	ICGC,
chr4	145593596	145593596	G	A	intronic	HHIP	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26909253	-	UTCA-FR|1|20|0.05000	-	-	mortality/aging	Pituitary hormone deficiency, combined|Increased Sp3 binding / decreased enhancer activity|Decreased enhancer activity	COSMIC,COSMIC,ICGC,
chr1	49109499	49109499	A	G	intronic	AGBL4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	Autism spectrum disorder, association with	ICGC,
chr1	116283440	116283442	TCA	-	exonic	CASQ2	nonframeshift	deletion	-	-	-	-	-	-	-	-	-	-	-	-	not_specified	-	cardiovascular system phenotype	Ventricular tachycardia, polymorphic|QRS interval, association with |Catecholaminergic polymorphic ventricular tachycardia|Cardiomyopathy, non-compaction, left ventricular|Cardiomyopathy, hypertrophic	ClinVar,
chr2	192883925	192883925	T	C	intronic	TMEFF2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1814425	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging	-	COSMIC,ICGC,
chr12	127494775	127494775	T	C	ncRNA_intronic	LOC101927592	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr7	34674364	34674364	T	G	ncRNA_intronic	NPSR1-AS1	unknown	SNV	-	-	-	0.0545	rs11972480	-	0.129992	-	0.065	-	-	LAML-KR|1|205|0.00488	-	-	-	-	ICGC,
chr3	8158920	8158920	C	A	intergenic	LOC101927394,LMCD1-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16959291	-	PRAD-CA|1|308|0.00325	-	-	-,-	-,-	COSMIC,COSMIC,ICGC,
chr7	25737732	25737732	C	T	intergenic	NPVF,RNU6-16P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr6	87748155	87748155	G	A	intergenic	HTR1E,CGA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,reproductive system phenotype	-,Male infertility, association with	ICGC,
chr6	163194794	163194794	G	A	intronic	PACRG	unknown	SNV	-	-	-	6.53e-05	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-	Infertility, male, association with |Leprosy, association with|Parkinson disease, early-onset 	ICGC,
chr7	157577294	157577294	G	C	intronic	PTPRN2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	homeostasis/metabolism phenotype	-	ICGC,
chr12	98459390	98459391	CA	-	intergenic	MIR4303,SLC9A7P1	unknown	deletion	-	-	-	0.0084	rs369340007	-	-	-	0.007	-	-	PEME-CA|1|112|0.00893	-	-	-,-	-,-	ICGC,
chr5	101677	101677	T	C	intergenic	NONE,PLEKHG4B	unknown	SNV	-	-	-	0.0020	rs374907859	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr8	16191457	16191457	A	T	intergenic	MSR1,FGF20	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	mortality/aging,hearing/vestibular/ear phenotype	Prostate cancer, association with|Prostate cancer|Chronic obstructive pulmonary disease, in smokers, association with|Barrett oesophagus/oesophageal adenocarcinoma|Atherosclerosis, increased risk, association with,Larger hippocampal volume, association with|Parkinson disease, increased risk, association with	ICGC,
chr21	26414531	26414531	A	C	ncRNA_intronic	LOC339622	unknown	SNV	-	-	-	0.2414	rs2829523	-	0.245607	-	0.312	-	-	LAML-KR|1|205|0.00488	-	-	-	-	ICGC,
chr7	31881090	31881090	C	T	intronic	PDE1C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	taste/olfaction phenotype	Developmental delay  	ICGC,
chr18	62230684	62230684	C	A	intergenic	LOC284294,CDH7	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22432797	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr17	78346368	78346368	G	A	exonic	RNF213	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM4524178	-	-	-	-	-	Ovarian cancer |Moyamoya disease 	COSMIC,COSMIC,
chr1	228520377	228520377	C	A	intronic	OBSCN	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	UTCA-FR|1|20|0.05000	-	-	muscle phenotype	Schizophrenia|Potential protein deficiency|Glioblastoma|Cardiomyopathy, hypertrophic	ICGC,
chr16	64001789	64001789	T	A	intergenic	CDH8,CDH11	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,integument phenotype	Learning disability  |Autism & learning disability ,-	ICGC,
chr17	67378471	67378471	G	A	intergenic	ABCA5,MAP2K6	unknown	SNV	-	-	-	0.0047	rs141158228	-	0.00479233	-	0.022	COSN16258501	-	-	-	-	mortality/aging,hematopoietic system phenotype	-,-	COSMIC,
chr14	49359216	49359216	A	C	intergenic	LINC00648,RPS29	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN14873018	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr11	80713276	80713276	G	A	intergenic	LOC101928944,LOC101928989	unknown	SNV	-	-	-	-	rs191727915	-	0.000399361	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr7	86367495	86367495	G	A	intronic	GRM3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	behavior/neurological phenotype	Schizophrenia, association with|Major depressive disorder, association with	ICGC,
chr6	12563605	12563605	T	C	intergenic	RNU6-48P,PHACTR1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6302101	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,Intellectual disability  	COSMIC,ICGC,
chr1	1576382	1576382	G	A	intronic	CDK11B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	-	ICGC,
chr11	107582369	107582369	A	G	intronic	SLN	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26403565	-	PRAD-UK|1|140|0.00714	-	-	cardiovascular system phenotype	-	COSMIC,ICGC,
chr1	157024061	157024061	A	G	intergenic	ARHGEF11,ETV3L	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	Schizophrenia|Lung cancer, reduced risk in Mexican Americans, association with|Diabetes, type 2, association with |Diabetes type 2 & insulin resistance, association with ,-	ICGC,
chr18	69808466	69808466	T	G	intergenic	LOC100505776,CBLN2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,behavior/neurological phenotype	-,-	ICGC,
chr6	67315957	67315957	G	C	intergenic	SLC25A51P1,BAI3	unknown	SNV	-	-	-	0.2343	rs9445745	-	0.252995	-	0.159	-	-	LAML-KR|1|205|0.00488	-	-	-,-	-,-	ICGC,
chr8	124619325	124619325	C	T	intergenic	FBXO32,KLHL38	unknown	SNV	-	-	-	-	rs865894462	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	muscle phenotype,-	-,-	ICGC,
chr21	45938235	45938235	G	T	ncRNA_intronic	C21orf90	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8611796	-	LUSC-KR|1|170|0.00588	-	-	-	-	COSMIC,ICGC,
chr5	147470713	147470713	T	C	intronic	SPINK5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16253972	-	PRAD-CA|1|308|0.00325	-	-	integument phenotype	Netherton syndrome|Immunodeficiency, primary  |Atopy, maternally inherited, association with|Asthma, association with	COSMIC,ICGC,
chr12	72492641	72492641	A	T	intergenic	TPH2,TRHDE-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype,-	Unipolar major depression, association with|Tryptophan hydroxylase 2 deficiency|Suicide, association with |Reduced promoter activity|Increased mRNA expression |Increased amygdala activity|Bipolar affective disorder, association with|Attention-deficit/hyperactivity disorder, association with.|Attention deficit hyperactivity disorder|Alternative splicing|Altered gene expression,-	ICGC,
chr8	88752806	88752806	G	A	intergenic	CNBD1,DCAF4L2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr11	40232049	40232049	T	G	intronic	LRRC4C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-	-	ICGC,
chr3	129028344	129028344	C	A	intergenic	HMCES,H1FX	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr2	199748437	199748437	G	A	intergenic	LOC101927619,SATB2	unknown	SNV	-	-	-	3.229e-05	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,mortality/aging	-,Toriello-Carey syndrome|Pierre Robin sequence  |Intellectual disability, nonsyndromic|Dentofacial abnormalities|Cleft palate, osteoporosis and cognitive defects|Cleft palate|Autism spectrum disorder	ICGC,
chr13	85338690	85338690	G	A	intergenic	LINC00333,LINC00351	unknown	SNV	-	-	-	-	rs567673960	-	0.000998403	-	-	COSN6235503	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr6	106062833	106062833	A	T	intergenic	PREP,PRDM1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PAEN-IT|1|37|0.02703	-	-	hematopoietic system phenotype,mortality/aging	-,Crohn's disease, increased risk, association with|Ulcerative colitis, reduced risk, association with  	ICGC,
chr13	83809008	83809008	G	A	intergenic	NONE,SLITRK1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Trichotillomania|Tourette syndrome|Obsessive-compulsive disorder |Attention deficit hyperactivity disorder 	ICGC,
chr4	33437885	33437885	A	T	intergenic	NONE,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19092868	-	CLLE-ES|1|510|0.00196	-	-	-,-	-,-	COSMIC,ICGC,
chr3	86844455	86844455	G	T	intergenic	RNU6-69P,VGLL3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7767981	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	COSMIC,ICGC,
chr7	157555482	157555482	G	A	intronic	PTPRN2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	homeostasis/metabolism phenotype	-	ICGC,
chr17	25276872	25276872	A	G	intergenic	NONE,MIR4522	unknown	SNV	-	-	-	-	rs74888737	-	-	-	-	COSN7162552	-	COCA-CN|1|321|0.00312,PACA-AU|1|391|0.00256	-	-	-,-	-,-	COSMIC,COSMIC,ICGC,
chr17	80869825	80869825	C	A	intronic	TBCD	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN18175633	-	-	-	-	-	-	COSMIC,
chr14	83567177	83567177	T	-	intergenic	LOC101928559,NONE	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|2|268|0.00746	-	-	-,-	-,-	ICGC,
chr8	144156976	144156976	C	T	intergenic	C8orf31,LY6H	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr21	21257456	21257456	C	T	intergenic	LOC101927797,LINC00320	unknown	SNV	-	-	-	0.0038	rs571275513	-	0.00119808	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr10	133332298	133332298	C	T	intergenic	TCERG1L,LINC01164	unknown	SNV	-	-	-	3.232e-05	rs560926713	-	0.000199681	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr12	27002658	27002658	T	A	intergenic	ITPR2,ASUN	unknown	SNV	-	-	-	9.72e-05	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	-,-	ICGC,
chr18	50166615	50166615	C	T	intronic	DCC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Altered p53 transactivation|Colorectal cancer, risk, association with |Mirror movements, congenital	ICGC,
chr7	113255579	113255579	G	T	intergenic	LINC00998,PPP1R3A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,growth/size phenotype	-,Insulin resistance, association with|Insulin resistance|Glycemia variation, association with	ICGC,
chr14	93860333	93860333	T	A	intronic	UNC79	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15321290	-	PRAD-UK|1|140|0.00714	-	-	mortality/aging	-	COSMIC,ICGC,
chr5	169716639	169716639	T	C	intronic	LCP2	unknown	SNV	-	-	-	-	rs529045324	-	0.00978435	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging	-	ICGC,
chr4	23747110	23747110	G	A	intergenic	MIR548AJ2,PPARGC1A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,Neovascularization in age-related macular degeneration, reduced risk|Left ventricular diastolic dysfunction in men, association with|Insulin resistance, association with|Increased risk for HCM|Hyperinsulinemia, HOMA-IR indices and abdominal obesity, association with|Huntington disease, age-at-onset in males, association with|Endurance-related phenotypes, association with|Diabetic nephropathy, association with|Diabetes, type 2, lower risk, association with|Diabetes, type 2, association with|Breast cancer|Body mass index, association with|Blood pressure, association with	ICGC,
chr11	55998781	55998781	T	A	downstream	OR5T2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	CMDI-UK|1|136|0.00735	-	-	-	-	ICGC,
chr6	41558215	41558215	G	A	intronic	FOXP4	unknown	SNV	-	-	-	6.468e-05	rs753623290	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging	-	ICGC,
chr16	89174198	89174198	C	G	intronic	ACSF3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20298363	-	LUSC-KR|1|170|0.00588	-	-	-	Malonic & methylmalonic aciduria, combined	COSMIC,ICGC,
chr6	97828171	97828171	-	TTCT	ncRNA_intronic	LOC101927314,MIR548H3	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	-,-	-,-	ICGC,
chr20	35008845	35008845	G	T	intronic	DLGAP4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25292169	-	MALY-DE|1|241|0.00415	-	-	-	-	COSMIC,ICGC,
chrX	87022172	87022172	A	C	intergenic	KLHL4,CPXCR1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	ICGC,
chr4	188683650	188683650	C	T	intergenic	LOC100506272,ZFP42	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,-	ICGC,
chr2	221605039	221605039	G	A	intergenic	MIR4268,EPHA4	unknown	SNV	-	-	-	3.232e-05	-	-	-	-	-	-	-	GACA-JP|1|585|0.00171	-	-	-,reproductive system phenotype	-,Amyotrophic lateral sclerosis, reduced disease severity	ICGC,
chr13	57824744	57824744	T	C	intergenic	PRR20A,PCDH17	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr1	88851323	88851323	C	T	intergenic	LINC01364,PKN2-AS1	unknown	SNV	-	-	-	-	rs570156293	-	0.000199681	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chrX	128057563	128057563	G	A	intergenic	ACTRT1,SMARCA1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23990395	-	BRCA-FR|1|72|0.01389,MELA-AU|1|183|0.00546	-	-	-,behavior/neurological phenotype	-,-	COSMIC,ICGC,
chr7	57820508	57820508	C	T	intergenic	ZNF716,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr17	9349010	9349010	C	T	intronic	STX8	unknown	SNV	-	-	-	0.7122	rs7214842	-	0.725439	-	0.645	COSN6662949	-	-	-	-	-	-	COSMIC,
chr12	54517656	54517656	C	T	intergenic	FLJ12825,LOC400043	unknown	SNV	-	-	-	0.3719	rs77222140	-	-	-	-	COSN20503061	-	COCA-CN|2|321|0.00623	-	-	-,-	-,-	COSMIC,COSMIC,ICGC,
chr3	139599969	139599969	T	C	intergenic	NMNAT3,CLSTN2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27137820	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,Improved memory performance, association with	COSMIC,ICGC,
chr8	69187072	69187072	T	G	intergenic	PREX2,LOC286189	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	behavior/neurological phenotype,-	-,-	ICGC,
chr2	28742470	28742470	C	T	intronic	PLB1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Potential protein deficiency|Rheumatoid arthritis, increased risk 	ICGC,
chr15	73685291	73685291	T	C	intergenic	HCN4,REC114	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging,-	Ventricular tachycardia |Tachycardia-bradycardia syndrome and atrial fibrillation|Sudden unexpected death in epilepsy|Sudden infant death syndrome|Sinus node disease|Sinus bradycardia, asymptomatic, association with|Sinus bradycardia|Brugada syndrome    |Atrioventricular block  |Atrial fibrillation,-	ICGC,
chr10	85261673	85261673	G	A	intergenic	NRG3,GHITM	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Schizophrenia, association with |Increased ventrolateral PFC activation|Hirschsprung disease  ,-	ICGC,
chr8	56082297	56082297	T	C	intronic	XKR4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25982946	-	ESAD-UK|1|301|0.00332	-	-	-	Glaucoma, primary congenital	COSMIC,ICGC,
chr11	83463750	83463750	T	C	intronic	DLG2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype	Schizophrenia and epilepsy|Myopathy  |Intellectual disability, autism and epilepsy|Hypochondriasis|Dysmorphic features & speech delay|Developmental delay and dysmorphic features|Developmental delay  	ICGC,
chr2	194910806	194910806	A	C	intergenic	PCGEM1,LOC101927406	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17741558	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr17	61870025	61870025	T	-	intronic	DDX42	unknown	deletion	-	-	-	0.0424	-	-	-	-	-	COSN20072132	-	-	-	-	-	-	COSMIC,
chr16	29686301	29686301	T	C	intergenic	SPN,QPRT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	hematopoietic system phenotype,-	-,-	ICGC,
chr10	82698173	82698173	C	G	intergenic	SH2D4B,NRG3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16246491	-	PRAD-CA|1|308|0.00325	-	-	-,integument phenotype	-,Schizophrenia, association with |Increased ventrolateral PFC activation|Hirschsprung disease  	COSMIC,ICGC,
chr15	26135357	26135357	C	T	intergenic	ATP10A,LOC100128714	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Angelman syndrome,-	ICGC,
chr5	84972311	84972311	A	C	intergenic	EDIL3,NBPF22P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	immune system phenotype,-	Schizophrenia  ,-	ICGC,
chr1	215470320	215470320	A	G	intergenic	KCNK2,KCTD3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	-,-	ICGC,
chr10	12006066	12006066	G	T	exonic	UPF2	nonsynonymous	SNV	0.007	0.987	-	-	-	-	-	-	-	COSM915282	UCEC|1|248|0.00403	UCEC-US|1|250|0.00400	-	-	mortality/aging	Intellectual disability  |Schizophrenia  	COSMIC,TCGA,ICGC,
chr5	84016060	84016060	G	T	intergenic	EDIL3,NBPF22P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	immune system phenotype,-	Schizophrenia  ,-	ICGC,
chr14	85473216	85473216	C	T	intergenic	NONE,LINC00911	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr7	145957818	145957818	T	A	intronic	CNTNAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype	Gilles de la Tourette syndrome|Intellectual disability  |Learning disability & speech problems|Mental retardation |Mental retardation, Pitt-Hopkins-like|Multiple congenital anomalies  |Seizures, neonatal |Speech delay  |Stuttering |Epileptic encephalopathy  |Epilepsy and schizophrenia|Autism|Autism spectrum disorder |Autism spectrum disorder, modifier of|Childhood apraxia of speech|Cortical dysplasia-focal epilepsy syndrome|Developmental and/or speech and/or behavioural problems|Developmental delay  |Developmental delay & dysmorphic features|Dyslexia 	ICGC,
chr6	101882448	101882448	T	A	intronic	GRIK2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20692672	-	BRCA-EU|1|569|0.00176	-	-	behavior/neurological phenotype	Mental retardation, non-syndromic, autosomal recessive	COSMIC,ICGC,
chr3	180605411	180605411	G	T	intergenic	LOC101928882,FXR1	unknown	SNV	-	-	-	0.0081	rs77136857	-	-	-	-	-	-	LUSC-KR|2|170|0.01176	-	-	-,mortality/aging	-,-	ICGC,
chr12	59167353	59167353	C	T	ncRNA_intronic	LOC101927653	unknown	SNV	-	-	-	0.0286	rs11172715	-	0.0972444	-	0.087	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr9	31020807	31020807	T	A	intergenic	LINC01242,ACO1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9710003	-	OV-AU|1|93|0.01075	-	-	-,mortality/aging	-,Schizophrenia	COSMIC,ICGC,
chr6	164089802	164089802	C	T	intergenic	QKI,C6orf118	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	mortality/aging,-	6q terminal deletion syndrome,-	ICGC,
chr12	22120943	22120943	G	A	intergenic	ABCC9,CMAS	unknown	SNV	-	-	-	0	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Potential protein deficiency|Myocardial infarction, association with|Early repolarization syndrome.|Early repolarization syndrome|Diabetes, type 2, association with |Cardiomyopathy, dilated|Cantú syndrome|Brugada syndrome.|Brugada syndrome    |Atrial fibrillation,-	ICGC,
chr2	147183495	147183495	C	T	intergenic	TEX41,PABPC1P2	unknown	SNV	-	-	-	0.0002	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332,PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr4	4604082	4604083	GA	-	ncRNA_intronic	STX18-AS1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	PACA-AU|1|391|0.00256	-	-	-	-	ICGC,
chr5	33100094	33100094	C	T	intergenic	LOC340113,TARS	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	132270083	132270083	C	T	exonic	AFF4	nonsynonymous	SNV	0.083	1.0	1.624e-05	3.231e-05	rs780771766	1.647e-05	-	-	-	COSM1433101	COAD|1|367|0.00272,COADREAD|1|489|0.00204	COCA-CN|1|321|0.00312,COAD-US|2|254|0.00787	-	-	mortality/aging	-	COSMIC,TCGA,ICGC,
chr14	76087835	76087835	T	C	intronic	FLVCR2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	Proliferative vasculopathy & hydranencephaly-hydrocephaly syndrome	ICGC,
chr4	81713432	81713432	G	A	intronic	C4orf22	unknown	SNV	-	-	-	3.233e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr5	137612815	137612815	G	T	intergenic	GFRA3,CDC25C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	vision/eye phenotype,mortality/aging	-,Colorectal cancer, age of onset, association with	ICGC,
chr2	43336301	43336301	G	A	intergenic	LOC102723854,ZFP36L2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24648593	-	GACA-CN|1|123|0.00813	-	-	-,integument phenotype	-,-	COSMIC,ICGC,
chr13	57468640	57468640	A	G	intergenic	MIR5007,PRR20A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23351323	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	COSMIC,ICGC,
chr7	103648648	103648648	T	G	intergenic	RELN,ORC5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	integument phenotype,-	Schizophrenia, association with  |Schizophrenia|Reduced expression|Lissencephaly with cerebellar hypoplasia|Developmental delay & mental retardation|Autism spectrum disorder|Autism,-	ICGC,
chr20	55617938	55617938	C	T	intergenic	TFAP2C,BMP7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,integument phenotype	-,Hypospadias|Eye / skeletal anomalies	ICGC,
chr20	18835030	18835030	C	T	intergenic	C20orf78,SLC24A3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr10	95150874	95150874	G	T	intronic	MYOF	unknown	SNV	-	-	-	0.0500	rs17108598	-	0.033147	-	0.058	-	-	ESAD-UK|1|301|0.00332	-	-	cardiovascular system phenotype	Schizophrenia|Autism	ICGC,
chr6	54384370	54384370	A	T	intergenic	TINAG,FAM83B	unknown	SNV	-	-	-	0.0895	rs10807472	-	0.10004	-	0.174	-	-	LAML-KR|1|205|0.00488	-	-	-,-	Chronic renal failure, childhood-onset,-	ICGC,
chr7	114980296	114980296	C	T	intergenic	LINC01393,TFEC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,-	ICGC,
chr10	6711104	6711104	T	C	intergenic	LOC101928150,LINC00706	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr8	118297343	118297343	C	T	intergenic	SLC30A8,MED30	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	vision/eye phenotype,mortality/aging	Reduced enhancer activity|Potential protein deficiency|Increased insulin clearance|Higher proinsulin levels, association with|Diabetes, type 2, protection against |Diabetes, type 2, association with|Autoantibody specificity in T1D, association with|Autoantibody specificity in T1D,-	ICGC,
chr4	76017356	76017356	C	T	intergenic	PARM1,LOC441025	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Schizophrenia,-	ICGC,
chr20	34865772	34865772	C	T	intergenic	AAR2,DLGAP4	unknown	SNV	-	-	-	0.0774	rs76894896	-	0.0245607	-	0.065	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr8	114423233	114423233	GA	AG	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr7	107341784	107341784	C	G	intronic	SLC26A4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-JP|1|585|0.00171	-	-	skeleton phenotype	Non-syndromic hearing loss, association with.|Mondini deformity|Increased ion transport activity|Hearing loss.|Hearing loss, non-syndromic|Hearing loss with dilation of vestibular aqueduct|Nonsyndromic hearing loss|Pendred syndrome|Pendred syndrome.|Pendred syndrome/DFNB4|Reduced ion transport activity|Sensorineural deafness with palmoplantar lichen planus|Sensorineural hearing loss|Thyroid dysgenesis|Hearing loss|Hearing impairment, nonsyndromic|Abolished ion transport activity|Deafness  |Deafness, bilateral, with inner ear malformation|Deafness, non-syndromic, autosomal dominant|Deafness, non-syndromic, autosomal recessive|Enlarged vestibular aqueduct|Enlarged vestibular aqueduct / Mondini deformity|Enlarged vestibular aqueduct & Mondini deformity|Hearing impairment, bilateral sensorineural|Hashimoto's thyroiditis|Graves' disease |Enlarged vestibular aqueduct.|Enlarged vestibular aqueduct & vestibular dilatation|Enlarged vestibular aqueduct & Mondini dysplasia	ICGC,
chr22	35159717	35159717	C	T	intergenic	LARGE,ISX	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2509901	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,no phenotypic analysis	Alpha-dystroglycanopathy |Autism, non-complex|Fukushima congenital muscular dystrophy|Muscular dystrophy, congenital 1D|Walker-Warburg syndrome|Walker-Warburg syndrome.,-	COSMIC,ICGC,
chr9	83483110	83483110	-	CT	intergenic	LOC101927477,TLE1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|4|67|0.05970	-	-	-,-	-,-	ICGC,
chr5	23641539	23641539	G	A	intergenic	PRDM9,CDH10	unknown	SNV	-	-	-	0.9026	rs1520995	-	0.933307	-	0.949	-	-	ESAD-UK|1|301|0.00332	-	-	reproductive system phenotype,-	Altered meiotic recombination hotspot usage|Azoospermia by meiotic arrest, association with |Azoospermia, non-obstructive ,-	ICGC,
chr9	139737814	139737814	C	T	intergenic	RABL6,C9orf172	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr16	74678008	74678008	T	A	intronic	RFWD3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr11	18182219	18182219	A	T	intergenic	MRGPRX3,MRGPRX4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6996741	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	COSMIC,ICGC,
chr6	103671478	103671478	C	T	intergenic	GRIK2,HACE1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,tumorigenesis	Mental retardation, non-syndromic, autosomal recessive,Wilms tumour 	ICGC,
chr10	64516756	64516756	C	T	intergenic	ZNF365,ADO	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Uric acid nephrolithiasis, association with|Crohn's disease, association with|Breast cancer, increased risk  ,-	ICGC,
chr7	53941165	53941165	A	T	intergenic	LINC01446,HPVC1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19557756	-	-	-	-	-,-	-,-	COSMIC,
chr13	36707696	36707696	A	C	intergenic	DCLK1,CCDC169-SOHLH2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	Cognitive ability, association with ,-	ICGC,
chr13	30857713	30857713	C	T	intronic	KATNAL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	reproductive system phenotype	-	ICGC,
chr13	83843255	83843255	C	A	intergenic	NONE,SLITRK1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22213867	-	BRCA-EU|1|569|0.00176	-	-	-,mortality/aging	-,Trichotillomania|Tourette syndrome|Obsessive-compulsive disorder |Attention deficit hyperactivity disorder 	COSMIC,ICGC,
chr7	124058724	124058724	A	G	intergenic	LOC101928211,GPR37	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,behavior/neurological phenotype	-,Autism spectrum disorder  	ICGC,
chr10	106893441	106893441	T	C	intronic	SORCS3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26597601	-	LICA-CN|1|402|0.00249	-	-	-	-	COSMIC,ICGC,
chr6	155869579	155869579	A	G	intergenic	NOX3,ARID1B	unknown	SNV	-	-	-	0.0357	rs9371894	-	0.115415	-	0.058	-	-	LAML-KR|1|205|0.00488	-	-	behavior/neurological phenotype,-	-,Schizophrenia|Nicolaides-Baraitser syndrome|Intellectual disability, plantar fat pads & facial dysmorphism|Intellectual disability, corpus callosum abnormalities, speech impairment & autism|Intellectual disability & speech impairment|Intellectual disability & agenesis of corpus callossum|Intellectual disability  |Developmental delay, dysmorphic features, dysgenesis of the corpus callosum, limb anomalies & genital hypoplasia|Coffin-Siris syndrome|Autism?|Autism spectrum disorder|Autism	ICGC,
chr6	49969647	49969647	A	T	intergenic	DEFB113,DEFB110	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1334158	-	LINC-JP|1|394|0.00254	-	-	-,-	-,-	COSMIC,ICGC,
chr8	55195612	55195612	G	A	intergenic	MRPL15,SOX17	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Congenital anomalies of the kidney and urinary tract|Stroke, association with	ICGC,
chr8	79111496	79111496	A	C	intergenic	PEX2,PKIA	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17651895	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,normal phenotype	Zellweger syndrome|Refsum disease, infantile|Peroxisome biogenesis disorder|Cerebellar ataxia, autosomal recessive,-	COSMIC,ICGC,
chr1	90007704	90007704	C	G	intronic	LRRC8B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-	-	ICGC,
chr4	188584510	188584510	A	G	ncRNA_intronic	LOC100506272	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25625991	-	MALY-DE|1|241|0.00415	-	-	-	-	COSMIC,ICGC,
chr11	62006946	62006946	C	T	intergenic	SCGB2A1,SCGB1D2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Altered p53 transactivation	ICGC,
chr3	56638961	56638961	C	A	intronic	CCDC66	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9003824	-	PAEN-AU|1|52|0.01923	-	-	vision/eye phenotype	-	COSMIC,ICGC,
chr6	65612985	65612985	-	A	intronic	EYS	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-	Cone-rod dystrophy, autosomal recessive.|Leber congenital amaurosis|Retinitis pigmentosa|Retinitis pigmentosa, autosomal recessive |Retinitis pigmentosa, autosomal recessive/Leber congenital amaurosis	ICGC,
chr2	125209759	125209759	G	A	intronic	CNTNAP5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Autism	ICGC,
chr13	91961388	91961388	G	A	intergenic	LINC00379,MIR17HG	unknown	SNV	-	-	-	3.394e-05	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,Feingold syndrome|Feingold syndrome 2|Post-axial polydactyly type A, overgrowth, facial dysmorphisms & autism	ICGC,
chr5	172672290	172672290	C	A	intergenic	NKX2-5,STC2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	integument phenotype,reproductive system phenotype	Wenckebach periodicity|Ventricular septal defect, association with|Ventricular septal defect|Thyroid dysgenesis|Tetralogy of Fallot|Isolated congenital asplenia|Hypoplastic left heart syndrome|Congenital heart disease.|Congenital heart disease, non-syndromic|Congenital heart disease, association with|Congenital heart disease & cardiomyopathy, adult-onset|Accessory atrioventricular connection |Atrial fibrillation|Atrial isomerism|Atrial septal defect|Atrioventricular septal defect |Cardiac disease|Cardiac disease, modifier of|Congenital heart disease ,-	ICGC,
chr11	44348674	44348674	C	T	intergenic	ALX4,CD82	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Skull defects, alopecia, hypertelorism & notched alae nasi|Nasal malformations & parietal foramina|Frontonasal dysplasia with intellectual disability, hypogonadism & partial alopecia|Frontonasal dysplasia 2|Frontonasal dysplasia|Frontofacial dysostosis syndrome|Foramina parietalia permagna|Craniosynostosis, nonsymdromic,-	ICGC,
chr1	80655243	80655243	C	A	intergenic	ELTD1,LPHN2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	EOPC-DE|1|202|0.00495	-	-	normal phenotype,mortality/aging	-,Schizophrenia	ICGC,
chr5	23721210	23721210	A	T	intergenic	PRDM9,CDH10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	reproductive system phenotype,-	Altered meiotic recombination hotspot usage|Azoospermia by meiotic arrest, association with |Azoospermia, non-obstructive ,-	ICGC,
chr7	120189736	120189736	G	A	intronic	KCND2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15398383	-	PRAD-UK|1|140|0.00714	-	-	integument phenotype	Epilepsy, temporal lobe	COSMIC,ICGC,
chr1	110655251	110655251	G	C	exonic	UBL4B	nonsynonymous	SNV	0.014	0.0	-	-	-	-	-	-	-	COSM6305230	-	LICA-CN|1|402|0.00249	-	-	-	-	COSMIC,ICGC,
chr1	115667949	115667949	G	A	intergenic	TSPAN2,NGF	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Sensory and autonomic neuropathy  |Phenotype study|Loss of pain perception|Anxiety-related traits, gender-dependent, association with|Alzheimer disease, late-onset, and mild cognitive impairment, association with.	ICGC,
chr5	82871753	82871753	G	T	intronic	VCAN	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging	Gastric cancer, association with  |Retinitis pigmentosa|Tetralogy of Fallot|Wagner syndrome	ICGC,
chr8	52936010	52936010	G	A	intergenic	PCMTD1,ST18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,homeostasis/metabolism phenotype	-,-	ICGC,
chr15	30696614	30696614	G	A	intronic	GOLGA8R	unknown	SNV	-	-	0.0191	0.0011	rs199832069	0.0170	-	-	-	COSN19619942	-	LAML-KR|1|205|0.00488,LUSC-KR|2|170|0.01176	-	-	-	-	COSMIC,ICGC,
chr1	71929851	71929851	A	G	intronic	NEGR1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17641424	-	ESAD-UK|1|301|0.00332	-	-	behavior/neurological phenotype	Obesity, association with|Dyslexia |Body mass index, association with|Attention deficit hyperactivity disorder	COSMIC,ICGC,
chr17	61469136	61469136	G	T	intronic	TANC2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	mortality/aging	Intellectual disability  |Schizophrenia	ICGC,
chr3	147704662	147704662	T	-	intergenic	LOC440982,AGTR1	unknown	deletion	-	-	-	0.2562	rs72239369	-	0.304513	-	-	COSN23109743	-	-	-	-	-,mortality/aging	-,Hypertrophic cardiomyopathy, association with|Increased left ventricular mass, association with|Myocardial infarction, acute, association with|Potential protein deficiency|Preeclampsia, association with|Reduced function|Renal tubular dysgenesis|Right coronary artery in STEM1, association with|Severe chronic periodontitis, association with|Hypertension, association with.|Hypertension, association with|Friedreich ataxia, modifier of|Acromegaly, association with|Atrial fibrillation, association with|Benign prostatic hyperplasia, association with|Blood pressure variation in response to potassium, association with|Body mass index, association with|Breast cancer, reduced risk|Carotid intima-media thickness, association with|Chronic kidney disease, association with|Diastolic heart failure, increased risk, association with	COSMIC,
chr18	73248011	73248011	C	A	intergenic	SMIM21,LOC339298	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1757569	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr3	128293715	128293715	G	C	intronic	C3orf27	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24115555	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	-	-	COSMIC,COSMIC,ICGC,
chr11	55274697	55274697	A	G	intergenic	OR4A15,OR4C15	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr1	15430694	15430694	G	T	intronic	KAZN	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	hematopoietic system phenotype	-	ICGC,
chr4	28627747	28627747	C	T	intergenic	STIM2,MIR4275	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	integument phenotype,-	-,-	ICGC,
chr14	85431498	85431498	C	T	intergenic	NONE,LINC00911	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr11	91066016	91066016	C	T	intergenic	DISC1FP1,FAT3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,vision/eye phenotype	-,Autism spectrum disorder	ICGC,
chr6	41593041	41593041	G	A	intergenic	FOXP4,MDFI	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	mortality/aging,mortality/aging	-,-	ICGC,
chr2	47323909	47323909	T	G	intronic	C2orf61	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr1	150203046	150203046	-	A	intronic	ANP32E	unknown	insertion	-	-	1.825e-05	7.142e-05	rs782288239	8.285e-06	-	8e-05	-	-	-	PACA-CA|1|268|0.00373	-	-	mortality/aging	-	ICGC,
chr2	185537474	185537480	CTTTTCT	-	intronic	ZNF804A	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	Neurodevelopmental disease|Reduced cortical gray matter thickness|Schizophrenia and bipolar disorder, association with|Schizophrenia, association with  	ICGC,
chr19	1203425	1203425	G	A	intergenic	SBNO2,STK11	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,integument phenotype	-,Sotos-like syndrome|Peutz-Jeghers syndrome with pancreatic cancer|Peutz-Jeghers syndrome with distal bile duct / ampullary cancer|Peutz-Jeghers syndrome with developmental delay, cleft palate & seizures|Peutz-Jeghers syndrome with congenital heart defect, high myopia, learning difficulties & dysmorphic features|Peutz-Jeghers syndrome |Juvenile polyposis coli|Gonadotrophin-independent precocious puberty|Gastrointestinal polyposis|Breast and/or ovarian cancer 	ICGC,
chr11	21851024	21851024	C	T	intergenic	NELL1,ANO5	unknown	SNV	-	-	-	3.23e-05	rs186278176	-	0.000199681	-	-	COSN23445831	-	EOPC-DE|1|202|0.00495	-	-	mortality/aging,-	Crohn disease, association with,Persistent asymptomatic hyperCKemia|Myopathy of posterior calf muscles, late-onset|Myopathy / muscular dystrophy|Myopathy  |Muscular dystrophy, limb girdle 2L.|Muscular dystrophy, limb girdle 2L|Muscular dystrophy  |Miyoshi-like distal myopathy|Miyoshi myopathy, non-dysferlin|Miyoshi distal myopathy.|Miyoshi distal myopathy|Gnathodiaphyseal dysplasia|Autism 	COSMIC,ICGC,
chr9	81304545	81304545	A	-	intergenic	PSAT1,LOC101927450	unknown	deletion	-	-	-	-	-	-	-	-	-	COSN23483173	-	ESAD-UK|1|301|0.00332,MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Schizophrenia |Phosphoserine aminotransferase deficiency,-	COSMIC,ICGC,
chr22	25279592	25279592	G	A	intronic	SGSM1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr2	119250354	119250354	-	T	intergenic	INSIG2,LOC101927709	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	mortality/aging,-	Reduced BMI, association with|Obesity, association with,-	ICGC,
chr19	52812111	52812113	CAT	-	intronic	ZNF480	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	Potential protein deficiency	ICGC,
chr19	50708169	50708169	-	T	intronic	MYH14	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	mortality/aging	Peripheral neuropathy, myopathy, and hearing loss|Hearing loss, non-syndromic, autosomal dominant|Hearing impairment|Deafness  	ICGC,
chr16	14154160	14154160	G	A	intergenic	LOC101927348,MKL2	unknown	SNV	-	-	-	6.472e-05	rs559047298	-	0.000399361	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Autism	ICGC,
chr14	40385400	40385400	C	T	intergenic	FBXO33,LOC644919	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr9	96366087	96366087	C	T	intronic	PHF2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Autism	ICGC,
chr7	82638975	82638975	G	A	intronic	PCLO	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging	Bipolar disorder, association with 	ICGC,
chr5	157564175	157564175	C	A	intergenic	CLINT1,LOC101927697	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PAEN-AU|1|52|0.01923	-	-	-,-	-,-	ICGC,
chr2	211742928	211742928	G	A	intergenic	CPS1,ERBB4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,integument phenotype	VACTERL |Neonatal pulmonary hypertension, association with|Necrotizing enterocolitis, in preterm infants, association with|Hyperammonaemia, association with|Carbamoyl phosphate synthetase I deficiency|Altered Nitric oxide production and vascular smooth muscle reactivity|Altered glycine metabolism,Schizophrenia |Oligohydramnios|Intellectual disability, hyperactivity & speech developmental delay|Increased promoter activity|Hepatocellular carcinoma, increased risk, association with|Epileptic encephalopathy, early infantile 3|Breast and colorectal cancer, association with|Bipolar disorder, association with |Bipolar disorder |Autism spectrum disorder  |Amyotrophic lateral sclerosis type 19	ICGC,
chr7	138360901	138360901	C	T	intronic	SVOPL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr2	179402079	179402079	C	T	exonic	TTN	synonymous	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging	Muscular dystrophy, limb girdle 2J|Myopathy|Myopathy with cellular aggregates|Potential protein deficiency|Tibial muscular dystrophy|Titinopathy|Muscular dystrophy  |Limb girdle muscular dystrophy 2J|Arrhythmogenic right ventricular cardiomyopathy|Arthrogryposis multiplex congenita with axoglial defects|Cardiac dysrhythmia|Cardiomyopathy, dilated|Cardiomyopathy, hypertrophic|Centronuclear myopathy	ICGC,
chr2	230495449	230495449	T	A	intronic	DNER	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22769380	-	BRCA-EU|1|569|0.00176	-	-	behavior/neurological phenotype	-	COSMIC,ICGC,
chr5	30148706	30148706	G	A	intergenic	LOC101929681,CDH6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,renal/urinary system phenotype	-,-	ICGC,
chr18	42646563	42646563	A	G	UTR3	SETBP1	unknown	SNV	-	-	-	-	rs376381081	-	-	-	-	-	-	-	Schinzel-Giedion_syndrome	-	-	Schinzel-Giedion-like syndrome|Schinzel-Giedion syndrome|Mental retardation & expressive speech impairment|Intellectual disability, nonsyndromic|Expressive speech delay|Expressive language delay, hypotonia, short stature & behavioural problems|Autism	ClinVar,
chr7	131621579	131621579	T	G	ncRNA_intronic	LOC101928782	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|2|301|0.00664	-	-	-	-	ICGC,
chr1	2873110	2873110	C	T	intergenic	TTC34,ACTRT2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr14	29387717	29387717	G	A	intergenic	C14orf23,MIR548AI	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr8	3087830	3087830	T	C	intronic	CSMD1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8518820	-	LUSC-KR|1|170|0.00588	-	-	-	Schizophrenia, association with |Hyperinsulinism|Autism|Attention deficit hyperactivity disorder 	COSMIC,ICGC,
chr14	41361832	41361832	G	C	intergenic	FBXO33,LOC644919	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr13	107346480	107346480	C	A	intergenic	LINC00443,FAM155A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26498908	-	LICA-CN|1|402|0.00249	-	-	-,-	-,-	COSMIC,ICGC,
chr12	29758387	29758387	T	C	intronic	TMTC1	unknown	SNV	-	-	-	0.5170	rs4931205	-	0.505391	-	0.449	-	-	LAML-KR|1|205|0.00488	-	-	-	-	ICGC,
chrX	145003316	145003316	G	A	intergenic	TMEM257,MIR892C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr10	9221430	9221430	G	A	intergenic	LINC00708,LOC101928272	unknown	SNV	-	-	-	-	rs200231555	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr6	161368950	161368950	G	A	intergenic	PLG,MAP3K4	unknown	SNV	-	-	-	0	rs184387357	-	0.000199681	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,mortality/aging	Plasminogen deficiency, severe type I|Plasminogen deficiency|Invasive aspergillosis, susceptibility|Haemolytic uraemic syndrome, atypical.|Haemolytic uraemic syndrome, atypical,-	ICGC,
chr10	10819941	10819941	G	A	intergenic	LOC101928322,SFTA1P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr8	14950893	14950893	T	C	intronic	SGCZ	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	Cervical artery dissection	ICGC,
chr22	46030392	46030392	T	A	intergenic	FBLN1,ATXN10	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5456396	-	LIRI-JP|1|258|0.00388	-	-	integument phenotype,-	Synpolydactyly|Syndactyly, undescended testes, delayed motor milestones & mental retardation|Fechtner syndrome,Nephronophthisis  |Spinocerebellar ataxia 10	COSMIC,ICGC,
chr21	16428789	16428789	T	C	intronic	NRIP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	reproductive system phenotype	Lung cancer, susceptibility to, association with	ICGC,
chr5	176496834	176496834	C	T	intergenic	ZNF346,FGFR4	unknown	SNV	-	-	-	9.712e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Poor cancer survival, association with|Prolonged survival, in advanced ovarian cancer, association with.|Prostate cancer occurrence|Prostate cancer, increased risk|Protective factor against coronary artery disease, association with|Nodal metastasis in oral squamous cell carcinoma, assoc. with|Lung cancer onset, association with|Hepatocellular carcinoma, protection against, association with|Gallstone disease severity, association with|Cushing's disease recurrence, association with|Cushing disease, modifier of|Coronary artery disease, association with|Cancer, accelerated progression, association with	ICGC,
chr6	156711169	156711169	A	T	intergenic	NOX3,ARID1B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	behavior/neurological phenotype,-	-,Schizophrenia|Nicolaides-Baraitser syndrome|Intellectual disability, plantar fat pads & facial dysmorphism|Intellectual disability, corpus callosum abnormalities, speech impairment & autism|Intellectual disability & speech impairment|Intellectual disability & agenesis of corpus callossum|Intellectual disability  |Developmental delay, dysmorphic features, dysgenesis of the corpus callosum, limb anomalies & genital hypoplasia|Coffin-Siris syndrome|Autism?|Autism spectrum disorder|Autism	ICGC,
chr13	56721514	56721514	C	T	intergenic	MIR5007,PRR20A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1614284	-	SKCA-BR|1|100|0.01000,LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,COSMIC,ICGC,
chr4	697136	697136	G	A	intergenic	MFSD7,PCGF3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,hematopoietic system phenotype	-,-	ICGC,
chr1	233064476	233064476	C	T	intergenic	MAP10,NTPCR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr15	20011649	20011649	T	C	intergenic	NONE,CHEK2P2	unknown	SNV	-	-	-	0.4130	rs12901456	-	-	-	-	COSN20506463	-	COCA-CN|1|321|0.00312	-	-	-,-	-,-	COSMIC,ICGC,
chr19	31974073	31974073	G	A	intergenic	TSHZ3,THEG5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	-,-	ICGC,
chr4	156626017	156626017	G	A	intronic	GUCY1A3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Myocardial infarction, increased risk |Achalasia & moyamoya	ICGC,
chr20	15062757	15062757	C	T	intronic	MACROD2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	Kabuki syndrome|Attention deficit hyperactivity disorder 	ICGC,
chr7	126115077	126115077	C	T	intronic	GRM8	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27096306	-	ESAD-UK|1|301|0.00332	-	-	behavior/neurological phenotype	Attention deficit hyperactivity disorder|Autism spectrum disorder  	COSMIC,ICGC,
chr1	202911330	202911330	A	G	exonic	ADIPOR1	synonymous	SNV	-	-	0.0006	0.0003	rs376585520	0.0006	0.00199681	-	-	COSM4576775	-	-	-	-	behavior/neurological phenotype	Lower insulin resistance, association with|Altered gene expression	COSMIC,
chr2	231612757	231612757	G	A	intronic	CAB39	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr1	160093813	160093813	G	A	exonic	ATP1A2	synonymous	SNV	-	-	-	-	-	-	-	-	-	-	SKCM|1|368|0.00272	-	-	-	integument phenotype	Hemiplegic migraine|Transient nonverbal learning disorder in hemiplegic migraine|Schizophrenia  |Psychotic aura symptoms, in familial hemiplegic migraine type 2.|Migraine|Hemiplegic migraine with cerebral vasoconstriction|Hemiplegic migraine and epilepsy|Hemiplegic migraine 2.|Hemiplegic migraine 2 with febrile seizures|Hemiplegic migraine 2	TCGA,
chr18	76657503	76657503	A	T	intergenic	LINC01029,SALL3	unknown	SNV	-	-	-	0.4674	rs7244911	-	0.503395	-	0.413	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,-	ICGC,
chr1	156341893	156341893	G	A	intronic	RHBG	unknown	SNV	-	-	-	0.0003	rs532488476	-	-	-	-	COSN25113318	-	MALY-DE|1|241|0.00415	-	-	normal phenotype	-	COSMIC,ICGC,
chr11	4510727	4510727	C	T	exonic	OR52K1	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM5970165	-	-	-	-	-	-	COSMIC,
chr3	77711968	77711968	G	A	intergenic	ROBO2,ROBO1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,mortality/aging	Autism spectrum disorder  |Urinary tract anomalies|Vesicoureteral reflux,Developmental dyslexia 	ICGC,
chr20	21236320	21236320	C	T	intergenic	KIZ,XRN2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25846832	-	EOPC-DE|1|202|0.00495	-	-	-,-	Rod-cone dystrophy, autosomal recessive,-	COSMIC,ICGC,
chr1	207847416	207847416	G	A	intronic	CR1L	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Schizophrenia	ICGC,
chr4	182113404	182113404	-	ATAT	intergenic	LINC00290,MGC45800	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr9	128989423	128989423	C	T	intergenic	PBX3,LOC101929116	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	integument phenotype,-	Congenital heart defects,-	ICGC,
chr3	191572628	191572628	T	A	intergenic	LINCR-0002,FGF12	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,behavior/neurological phenotype	-,-	ICGC,
chr4	8201961	8201961	C	T	intronic	SH3TC1	unknown	SNV	-	-	-	0.0016	rs548549988	-	0.000599042	-	-	-	-	PBCA-US|1|186|0.00538,MALY-DE|1|241|0.00415	-	-	-	-	ICGC,
chr11	8121876	8121888	CAGGGTAGAGACC	-	intronic	TUB	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	vision/eye phenotype	Retinal dystrophy and obesity	ICGC,
chr7	118293819	118293819	C	T	intergenic	ANKRD7,KCND2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Epilepsy, temporal lobe	ICGC,
chr6	40130278	40130280	CAG	-	intergenic	MOCS1,LINC00951	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	integument phenotype,-	Molybdenum cofactor deficiency,Esophageal squamous cell carcinoma, reduced risk	ICGC,
chr11	107517703	107517703	-	AATC	intronic	ELMOD1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|2|67|0.02985	-	-	integument phenotype	-	ICGC,
chr15	31220755	31220755	G	C	splicing	FAN1	splicing	SNV	-	-	4.076e-06	-	-	-	-	-	-	-	-	GACA-JP|1|585|0.00171	-	-	-	Karyomegalic interstitial nephritis	ICGC,
chr10	75358830	75358830	C	T	intergenic	USP54,MYOZ1	unknown	SNV	-	-	-	3.234e-05	rs565853346	-	0.000599042	-	-	-	-	UTCA-FR|1|20|0.05000	-	-	-,behavior/neurological phenotype	Autism spectrum disorder,-	ICGC,
chr8	144858315	144858315	C	A	intergenic	FAM83H-AS1,SCRIB	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8074129	-	PACA-AU|1|391|0.00256	-	-	-,mortality/aging	-,Spina bifida|Craniorachischisis|Autism	COSMIC,ICGC,
chr15	79316374	79316377	CACA	-	intronic	RASGRF1	unknown	deletion	-	-	-	-	-	-	-	-	0.449	-	-	LMS-FR|1|67|0.01493	-	-	behavior/neurological phenotype	-	ICGC,
chr5	104921952	104921952	A	T	intergenic	RAB9BP1,LOC102467213	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr10	35066356	35066356	C	T	intronic	PARD3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19062333	-	CLLE-ES|1|510|0.00196	-	-	mortality/aging	Neural tube defects	COSMIC,ICGC,
chr2	44362585	44362585	G	A	intergenic	LRPPRC,PPM1B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,mortality/aging	Cytochrome c oxidase deficiency,-	ICGC,
chrX	11519355	11519355	C	T	intronic	ARHGAP6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Microphthalamia with linear skin defects	ICGC,
chr3	7689137	7689137	A	T	intronic	GRM7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	mortality/aging	Schizophrenia, association with  |Autism |Attention deficit hyperactivity disorder	ICGC,
chr3	164679990	164679990	C	T	intergenic	LINC01192,SI	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Sucrase isomaltase deficiency	ICGC,
chr12	73085062	73085062	G	A	intergenic	TRHDE,LOC101928137	unknown	SNV	-	-	-	3.237e-05	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	no phenotypic analysis,-	-,-	ICGC,
chr12	80765818	80765818	T	G	exonic	OTOGL	nonsynonymous	SNV	0.075	0.528	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	Sensorineural hearing loss  |Deafness  |Autism spectrum disorder	ICGC,
chr21	24781182	24781182	G	A	intergenic	D21S2088E,LOC101927869	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr19	57330038	57330038	G	A	exonic	PEG3,ZIM2	synonymous	SNV	-	-	1.642e-05	3.229e-05	rs200146387	3.295e-05	-	7.7e-05	-	COSM3540244	SKCM|1|368|0.00272	SKCM-US|1|335|0.00299	-	-	mortality/aging,-	-,-	COSMIC,COSMIC,COSMIC,TCGA,ICGC,
chr3	148123911	148123911	A	T	intergenic	LOC440982,AGTR1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	NKTL-SG|1|50|0.02000	-	-	-,mortality/aging	-,Hypertrophic cardiomyopathy, association with|Increased left ventricular mass, association with|Myocardial infarction, acute, association with|Potential protein deficiency|Preeclampsia, association with|Reduced function|Renal tubular dysgenesis|Right coronary artery in STEM1, association with|Severe chronic periodontitis, association with|Hypertension, association with.|Hypertension, association with|Friedreich ataxia, modifier of|Acromegaly, association with|Atrial fibrillation, association with|Benign prostatic hyperplasia, association with|Blood pressure variation in response to potassium, association with|Body mass index, association with|Breast cancer, reduced risk|Carotid intima-media thickness, association with|Chronic kidney disease, association with|Diastolic heart failure, increased risk, association with	ICGC,
chr2	107601529	107601529	G	A	intergenic	ST6GAL2,RGPD4-AS1	unknown	SNV	-	-	-	3.231e-05	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,-	-,-	ICGC,
chr18	36607296	36607296	G	A	intergenic	MIR4318,LINC00669	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	240500552	240500552	G	T	intergenic	HDAC4,LOC150935	unknown	SNV	-	-	-	-	-	-	-	-	-	COSM6302312	-	LICA-CN|1|402|0.00249	-	-	integument phenotype,-	Anorexia nervosa/bulimia nervosa|Autism spectrum disorder|Brachydactyly mental retardation syndrome|Brachydactyly mental retardation syndrome & hyperoxaluria, type 1,-	COSMIC,ICGC,
chrX	137652965	137652965	A	G	intergenic	ZIC3,LINC00889	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	Situs abnormality|Heterotaxy|Congenital heart disease |Cardiac malformation,-	ICGC,
chrX	75078783	75078783	G	A	intergenic	MAGEE2,PBDC1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Potential protein deficiency,-	ICGC,
chr9	78702836	78702836	G	A	intronic	PCSK5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Low HDL cholesterol	ICGC,
chr6	98771964	98771964	A	T	intergenic	MIR2113,POU3F2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,-	ICGC,
chr2	37954861	37954861	A	G	intergenic	CDC42EP3,LINC00211	unknown	SNV	-	-	-	3.228e-05	-	-	-	-	-	COSN26073683	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr10	81147436	81147436	C	A	intronic	ZCCHC24	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25007168	-	LICA-FR|1|252|0.00397	-	-	-	-	COSMIC,ICGC,
chrX	65053325	65053325	T	G	intergenic	MSN,MIR223	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	normal phenotype,-	-,-	ICGC,
chr2	140358013	140358013	C	T	intergenic	YY1P2,LRP1B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,mortality/aging	-,Schizophrenia   	ICGC,
chr9	4397269	4397269	C	T	intergenic	GLIS3,SLC1A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	mortality/aging,vision/eye phenotype	Diabetes, permanent neonatal|Diabetes, type 1, resistance to|Neonatal diabetes & congenital hypothyroidism|Neural tube defects,Schizophrenia and epilepsy|Psychosis |Obsessive-compulsive disorder |Dicarboxylic aminoaciduria|Autism spectrum disorder 	ICGC,
chr5	104078689	104078689	G	T	intergenic	NUDT12,RAB9BP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr19	37884252	37884252	-	TC	downstream	ZNF527	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN18757120	-	-	-	-	-	-	COSMIC,
chr11	6568698	6568698	G	A	exonic	DNHD1	nonsynonymous	SNV	0.086	0.666	-	-	-	-	-	-	-	COSM3810103	BRCA|1|982|0.00102	BRCA-US|1|955|0.00105	-	-	-	-	COSMIC,COSMIC,TCGA,ICGC,
chr12	84787730	84787730	C	G	intergenic	TMTC2,SLC6A15	unknown	SNV	-	-	-	0.0004	rs10779097	-	-	-	0.377	-	-	MELA-AU|1|183|0.00546	-	-	-,reproductive system phenotype	-,Increased maximal 3H proline uptake	ICGC,
chr11	72959382	72959382	A	T	intergenic	P2RY2,P2RY6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	cellular phenotype,hematopoietic system phenotype	-,-	ICGC,
chr4	6913969	6913969	A	G	intronic	TBC1D14	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2042712	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging	-	COSMIC,ICGC,
chr8	11398504	11398504	A	G	intronic	BLK	unknown	SNV	-	-	-	0.4136	rs4366049	-	0.526558	-	0.486	-	-	ESAD-UK|1|301|0.00332	-	-	hematopoietic system phenotype	Systemic sclerosis, association with|Systemic lupus erythematosus, association with|Rheumatoid arthritis, reduced risk|Reduced half-lif of BLK protein|Polymyositis/dermatomyositis, increased risk|Hypertriglyceridaemia|Diabetes, MODY|Decreased expression	ICGC,
chr5	73043354	73043354	G	T	intronic	ARHGEF28	unknown	SNV	-	-	-	3.232e-05	-	-	-	-	-	COSN9456590	-	OV-AU|1|93|0.01075	-	-	-	Amyotrophic lateral sclerosis  	COSMIC,ICGC,
chr17	71414055	71414055	G	A	intronic	SDK2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr8	71365759	71365759	T	G	intergenic	NCOA2,LOC101926892	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	integument phenotype,-	-,-	ICGC,
chr16	5605834	5605834	C	T	intergenic	FAM86A,LOC101926950	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr6	165072893	165072893	G	C	intergenic	QKI,C6orf118	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	mortality/aging,-	6q terminal deletion syndrome,-	ICGC,
chr16	83666487	83666487	T	C	intronic	CDH13	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Higher adiponectin levels|Amyotrophic lateral sclerosis 	ICGC,
chr11	435502	435506	TAGTC	-	intronic	ANO9	unknown	deletion	-	-	-	0.0039	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr7	93135132	93135132	T	C	intronic	CALCR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Lower lumbar bone mineral density, association	ICGC,
chr3	17159644	17159644	C	T	intergenic	PLCL2,TBC1D5	unknown	SNV	-	-	-	0.0198	rs116374863	-	0.0435304	-	0.022	-	-	LAML-KR|1|205|0.00488	-	-	hematopoietic system phenotype,-	-,-	ICGC,
chr5	27814086	27814086	C	T	intergenic	LINC01021,LSP1P3	unknown	SNV	-	-	-	0.0621	rs73746858	-	0.0621006	-	0.080	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr22	22550639	22550639	G	A	intergenic	TOP3B,VPREB1	unknown	SNV	-	-	0	-	rs768079734	8.295e-06	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	integument phenotype,hematopoietic system phenotype	Short stature|Schizophrenia / cognitive impairment, association with|Mild mental retardation and generalised overgrowth,Rheumatoid arthritis, reduced risk, association with	ICGC,
chr4	133711670	133711670	G	A	intergenic	NONE,PCDH10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,Schizophrenia|Potential protein deficiency	ICGC,
chr9	18434822	18434822	A	G	intergenic	SH3GL2,ADAMTSL1	unknown	SNV	-	-	-	0.0146	rs10511636	-	0.00838658	-	0.007	COSN14901561	-	-	-	-	-,-	-,-	COSMIC,
chr2	44531384	44531384	C	A	exonic	SLC3A1	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM6579671	-	-	-	-	skeleton phenotype	Cystinuria|Hypotonia-Cystinuria syndrome|Hypotonia-Cystinuria syndrome, atypical	COSMIC,
chr9	107584880	107584880	G	-	exonic	ABCA1	frameshift	deletion	-	-	-	-	-	-	-	-	-	-	-	-	Tangier_disease	-	mortality/aging	Increased triglyceride levels|Increased total cholesterol|Increased serum TC levels & decreased serum HDL-C and ApoAI|Increased risk of ischemic heart disease|Increased risk of coronary artery disease, association with|Increased risk of CAD, association |Increased plasma LDLc levels, association with|Increased plasma HDL cholesterol|Increased HDL-C|Ischemic heart disease, increased risk|Low HDL cholesterol levels, association with|Tangier disease.|Tangier disease|Susceptibility to radiation dermatitis|Smith-Lemli-Opitz syndrome, modifier of|Scott syndrome|Reduced total cholesterol|Reduced risk of coronary artery disease, association with|Reduced plasma HDL cholesterol|Reduced HDL cholesterol|Increased fenofibrate cholesterol efflux, association with|Improved long-term clinical outcome in coronary artery disease, association with.|Impaired insulin secretion|Coronary artery disease, protection against, association with|Autism spectrum disorder|Atrial fibrillation, protection, association with|Atherothrombotic cerebral infarction, protection, association|Atherosclerosis, association with|APOE e4 dependent alzheimer disease risk|Alzheimer's disease, association with |Altered HDL cholesterol levels|Altered HDL cholesterol|Coronary artery disease, reduced risk|Coronary heart disease, association with|Hypercholesterolaemia / hypertriglyceridaemia ?|Hypercholesterolaemia|HDL-C and TG levels, association with|HDL deficiency, dietary treatment response, association with|HDL deficiency|Coronary heart disease, protection against, association with.|Coronary heart disease, premature, association with|Coronary heart disease, increased risk, association with |Coronary heart disease, decreased risk, association with	ClinVar,
chr8	55047664	55047664	A	G	upstream	MRPL15	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9660625	-	OV-AU|1|93|0.01075	-	-	-	-	COSMIC,ICGC,
chr11	132059503	132059503	T	C	intronic	NTM	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17675610	-	ESAD-UK|1|301|0.00332	-	-	-	Aortic aneurysm, thoracic & intracranial|Potential protein deficiency	COSMIC,ICGC,
chr2	129765902	129765902	T	A	intergenic	LOC101927881,LOC151121	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BOCA-FR|1|98|0.01020	-	-	-,-	-,-	ICGC,
chr10	53870277	53870277	T	-	intronic	PRKG1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	PACA-AU|1|391|0.00256	-	-	mortality/aging	Thoracic aortic aneurysms and dissections	ICGC,
chr12	39564229	39564229	T	A	intergenic	CPNE8,KIF21A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9749433	-	RECA-EU|1|422|0.00237	-	-	-,-	-,CFEOM1 & Marcus Gunn jaw-winking syndrome|Congenital fibrosis of the extraocular muscles 1|Congenital fibrosis of the extraocular muscles 1 & Möbius syndrome	COSMIC,ICGC,
chr18	64013259	64013259	T	C	intergenic	CDH7,CDH19	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9341607	-	OV-AU|1|93|0.01075	-	-	-,-	-,Tetralogy of Fallot	COSMIC,ICGC,
chr11	99380510	99380510	C	T	intronic	CNTN5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|2|100|0.02000	-	-	behavior/neurological phenotype	-	ICGC,
chr4	2400913	2400913	G	A	intronic	ZFYVE28	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chrX	110140239	110140239	G	A	intergenic	CHRDL1,PAK3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-,behavior/neurological phenotype	Megalocornea, X-linked,Mental retardation syndrome, X-linked|Mental retardation with neuropsychiatric features	ICGC,
chr2	133031992	133031992	G	A	intergenic	ANKRD30BL,GPR39	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,behavior/neurological phenotype	-,-	ICGC,
chr4	132641999	132641999	T	C	intergenic	LOC101927282,PCDH10	unknown	SNV	-	-	-	-	rs111770361	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,Schizophrenia|Potential protein deficiency	ICGC,
chr6	115960226	115960226	C	T	intergenic	HS3ST5,FRK	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,homeostasis/metabolism phenotype	-,Potential protein deficiency	ICGC,
chr13	31649342	31649342	C	T	intergenic	TEX26,HSPH1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr10	55765463	55765463	A	T	intronic	PCDH15	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	vision/eye phenotype	Usher syndrome II|Usher syndrome 1f|Usher syndrome 1|Lipid levels in hyperlipidaemia, association with|Hearing loss, non-syndromic|Deafness, non-syndromic, autosomal recessive|Deafness, non-syndromic |Deafness  	ICGC,
chr1	217519734	217519734	G	C	intergenic	ESRRG,GPATCH2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Breast cancer, association with ,-	ICGC,
chr6	65062567	65062567	G	A	intronic	EYS	unknown	SNV	-	-	-	3.247e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Cone-rod dystrophy, autosomal recessive.|Leber congenital amaurosis|Retinitis pigmentosa|Retinitis pigmentosa, autosomal recessive |Retinitis pigmentosa, autosomal recessive/Leber congenital amaurosis	ICGC,
chr3	21626216	21626216	C	T	intronic	ZNF385D	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr6	62689443	62689443	G	T	intronic	KHDRBS2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-	-	ICGC,
chr6	3282072	3282072	T	G	intronic	SLC22A23	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-	-	ICGC,
chr16	33941982	33941982	G	T	intergenic	RNU6-76P,LINC00273	unknown	SNV	-	-	-	-	rs773473881	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	-,-	ICGC,
chr15	32343205	32343205	T	G	intronic	CHRNA7	unknown	SNV	-	-	-	0.0020	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging	P50 inhibitory defect, association with|P50 inhibitory defect, protection against, association with|Personality disorder |Reduced receptor activity|Schizophrenia|Seizures |Seizures, mental retardation, macrocytosis & retinal dysfunction|Speech & learning problems with autism|Mental retardation, seizures & dysmorphism|Encephalopathy with seizures & hypotonia|15q13.3 microdeletion syndrome|Attention deficit hyperactivity disorder & obsessive compulsive disorder|Autism|Autism spectrum disorder  |Congenital blindness & convulsive encephalopathy|Developmental delay  |Developmental delay, hypotonia, visual impairment & seizures|Developmental delay, mental retardation and seizures	ICGC,
chrX	69482209	69482209	C	A	intergenic	P2RY4,ARR3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,vision/eye phenotype	Potential protein deficiency,-	ICGC,
chr3	5267420	5267420	T	C	intergenic	EDEM1,MIR4790	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Breast cancer, increased risk  ,-	ICGC,
chr12	106784494	106784494	-	AA	intronic	POLR3B	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	Hypomyelinating leukodystrophy|Hypomyelination, cerebellar atrophy & corpus callosum hypoplasia|Intellectual disability  	ICGC,
chr3	180834873	180834873	C	T	ncRNA_intronic	SOX2-OT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr7	33427673	33427673	C	T	exonic	BBS9	nonsynonymous	SNV	0.0	1.0	1.218e-05	-	rs746543061	8.24e-06	-	-	-	COSM5791684	-	BRCA-EU|1|569|0.00176	-	-	-	Wilms tumour |Tetralogy of Fallot|Nephronophthisis-related ciliopathy|Bardet-Biedl syndrome	COSMIC,COSMIC,COSMIC,ICGC,
chr2	83779271	83779271	C	T	intergenic	LOC1720,FUNDC2P2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr7	14236984	14236984	G	T	intronic	DGKB	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN4962595	-	ESAD-UK|1|301|0.00332	-	-	behavior/neurological phenotype	-	COSMIC,COSMIC,ICGC,
chr3	89896632	89896632	G	A	intergenic	EPHA3,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538,MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Oligozoospermia|Schizophrenia    |Sertoli-cell-only syndrome,-	ICGC,
chr5	111710901	111710901	G	A	intronic	EPB41L4A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-FR|1|72|0.01389	-	-	-	-	ICGC,
chr10	129839190	129839190	G	A	exonic	PTPRE	synonymous	SNV	-	-	2.439e-05	9.718e-05	rs753474086	1.678e-05	-	-	-	COSM4719152	-	-	-	-	hematopoietic system phenotype	-	COSMIC,
chr5	38822446	38822446	T	C	ncRNA_intronic	OSMR-AS1	unknown	SNV	-	-	-	7.325e-05	-	-	-	-	-	COSN20384107	-	COCA-CN|1|321|0.00312	-	-	-	-	COSMIC,ICGC,
chr5	100127342	100127342	C	T	intergenic	FAM174A,ST8SIA4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,-	ICGC,
chr10	8178620	8178620	G	A	intergenic	GATA3,LINC00708	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Sensorineural hearing loss, facial dysmorphism & delayed psychomotor development|Hypoparathyroidism, deafness and renal dysplasia|Hypoparathyroidism and deafness|Acute lymphoblastic leukaemia, association with ,-	ICGC,
chr15	26376546	26376546	C	A	ncRNA_intronic	LINC00929	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21069699	-	BRCA-UK|1|141|0.00709,BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr2	222757798	222757798	G	A	intergenic	EPHA4,PAX3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	reproductive system phenotype,integument phenotype	Amyotrophic lateral sclerosis, reduced disease severity,Waardenburg syndrome type I|Waardenburg syndrome III|Waardenburg syndrome I.|Waardenburg syndrome I|Waardenburg syndrome|Spina bifida  |Reduced transcription|Hearing loss, syndromic|Craniofacial-deafness-hand syndrome	ICGC,
chr19	31458846	31458846	-	AC	intergenic	ZNF536,TSHZ3	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-,integument phenotype	Schizophrenia,-	ICGC,
chr15	33962523	33962523	C	T	intronic	RYR3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	Schizophrenia|Hyperinsulinism|Breast cancer, increased risk, association with  	ICGC,
chr14	88588176	88588176	C	T	intergenic	LINC01146,KCNK10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,nervous system phenotype	-,-	ICGC,
chr12	21137461	21137461	G	A	intergenic	SLCO1B3,SLCO1B7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Rotor syndrome|Decreased protein expression|Altered substrate specificity,Schizophrenia	ICGC,
chr2	14178150	14178150	G	A	intergenic	LOC100506474,LINC00276	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr11	97472560	97472560	-	ACACACAA	intergenic	JRKL-AS1,MIR7976	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr3	165801183	165801183	G	C	intergenic	BCHE,ZBBX	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9762835	-	RECA-EU|1|422|0.00237	-	-	mortality/aging,-	Serum cholinesterase deficiency|Potential protein deficiency|Obesity and triglyceride levels, association with|Hypocholinesterasaemia|Fronto-temporal dementia, association with|Cholinesterasaemia|Butyrylcholinesterase variant|Butyrylcholinesterase deficiency|Addiction to crack cocaine, association with|Acholinesterasaemia,-	COSMIC,ICGC,
chr1	82327360	82327360	G	T	intronic	LPHN2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17614581	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Schizophrenia	COSMIC,ICGC,
chr8	54730436	54730436	G	A	intronic	ATP6V1H	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	Schizophrenia  	ICGC,
chr6	134855943	134855943	G	A	intergenic	LINC01010,ALDH8A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr12	102148516	102148516	-	A	intronic	GNPTAB	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	vision/eye phenotype	Stuttering|Mucolipidosis, intermediate|Mucolipidosis IIIA|Mucolipidosis III|Mucolipidosis IIA/B|Mucolipidosis II/IIIAB, intermediate|Mucolipidosis II	ICGC,
chr1	30804823	30804823	C	T	intergenic	LOC101929406,MATN1	unknown	SNV	-	-	-	0.2527	rs743664	-	0.169928	-	0.188	-	-	ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488	-	-	-,skeleton phenotype	-,-	ICGC,
chr14	76666844	76666847	AGAG	-	intronic	GPATCH2L	unknown	deletion	-	-	-	3.232e-05	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-	-	ICGC,
chr4	92931999	92931999	C	T	intergenic	CCSER1,GRID2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,mortality/aging	-,Cerebellar ataxia & tonic upgaze|Cerebellar ataxia and atrophy|Schizophrenia|Spastic paraplegia, complicated	ICGC,
chr7	124910854	124910854	C	A	ncRNA_intronic	LOC101928283	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24627848	-	GACA-CN|1|123|0.00813	-	-	-	-	COSMIC,ICGC,
chr5	55162869	55162869	C	T	intronic	IL31RA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	hematopoietic system phenotype	Amyloidosis, primary cutaneous	ICGC,
chr6	78702160	78702160	G	A	intergenic	MEI4,IRAK1BP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,no phenotypic analysis	-,-	ICGC,
chr2	186031636	186031636	T	G	intergenic	ZNF804A,LOC101927196	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	Neurodevelopmental disease|Reduced cortical gray matter thickness|Schizophrenia and bipolar disorder, association with|Schizophrenia, association with  ,-	ICGC,
chr17	5565247	5565247	C	T	intergenic	NLRP1,LOC339166	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5841232	-	LINC-JP|1|394|0.00254	-	-	-,-	Vitiligo-association multiple autoimmune disease susceptibility|Schizophrenia|Rheumatoid arthritis, increased risk, association with  |Increased IL-1b release|Corneal intraepithelial dyskeratosis|Autoimmunity|Autoimmune Addison's disease, association with|Autoimmune Addison's disease and diabetes type 1, association,-	COSMIC,ICGC,
chr18	4785948	4785948	G	A	intergenic	DLGAP1,C18orf42	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Schizophrenia  ,-	ICGC,
chr11	41394752	41394752	A	G	intronic	LRRC4C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-	-	ICGC,
chr3	98748854	98748854	G	A	intergenic	DCBLD2,MIR548G	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Anorectal malformation,-	ICGC,
chr20	18258021	18258021	-	TGTTTG	intergenic	CSRP2BP,ZNF133	unknown	insertion	-	-	-	0.0326	-	-	-	-	-	-	-	SKCA-BR|10|100|0.10000	-	-	mortality/aging,-	-,Schizophrenia	ICGC,
chr7	34568480	34568480	G	A	ncRNA_intronic	NPSR1-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26125625	-	PRAD-UK|1|140|0.00714	-	-	-	-	COSMIC,ICGC,
chr6	82837593	82837593	G	A	intergenic	FAM46A,IBTK	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,hematopoietic system phenotype	Tuberculosis, susceptibility to ,-	ICGC,
chr5	27884242	27884242	T	A	intergenic	LINC01021,LSP1P3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	RECA-EU|1|422|0.00237	-	-	-,-	-,-	ICGC,
chr6	54194029	54194029	C	A	intronic	TINAG	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	Chronic renal failure, childhood-onset	ICGC,
chr8	112159441	112159441	G	A	intergenic	KCNV1,CSMD3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16635667	-	PACA-CA|1|268|0.00373	-	-	behavior/neurological phenotype,-	-,Schizophrenia  |Colorectal cancer 	COSMIC,ICGC,
chrX	80200262	80200262	C	T	intergenic	BRWD3,HMGN5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	craniofacial phenotype,no phenotypic analysis	Rolandic epilepsy |Potential protein deficiency|Mental retardation, X-linked|Intellectual disability & macrocephaly,-	ICGC,
chr4	25964820	25964820	C	T	intergenic	SMIM20,RBPJ	unknown	SNV	-	-	-	0.0002	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Adams-Oliver syndrome|Proximal 4p deletion syndrome and epilepsy	ICGC,
chr16	64823895	64823895	C	A	intergenic	NONE,CDH11	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,integument phenotype	-,-	ICGC,
chr1	62790205	62790205	A	-	intergenic	KANK4,USP1	unknown	deletion	-	-	-	-	-	-	-	-	0.007	-	-	LMS-FR|1|67|0.01493	-	-	-,mortality/aging	-,-	ICGC,
chr2	3973636	3973636	C	T	intergenic	DCDC2C,LINC01304	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr10	16387645	16387645	C	T	intergenic	FAM188A,PTER	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Non-small-cell lung cancer, increased risk, association with,-	ICGC,
chr2	38845265	38845265	A	G	intergenic	HNRNPLL,GALM	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr14	84866449	84866449	C	T	intergenic	NONE,LINC00911	unknown	SNV	-	-	-	3.229e-05	-	-	-	-	-	COSN5751620	-	LINC-JP|1|394|0.00254	-	-	-,-	-,-	COSMIC,ICGC,
chr14	82436271	82436271	C	T	intergenic	LOC101928559,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr8	41229796	41229796	G	T	intergenic	SFRP1,GOLGA7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	mortality/aging,-	Intellectual and developmental disabilities,-	ICGC,
chr6	26873630	26873631	AG	-	ncRNA_intronic	GUSBP2	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-	-	ICGC,
chrX	66054514	66054514	G	A	intergenic	EDA2R,AR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	normal phenotype,integument phenotype	Hypohidrotic ectodermal dysplasia|Mental retardation, X-linked ,Infertility, idiopathic|Infertility, male|Premature ovarian failure |Primary amenorrhea|Prostate cancer |Prostate cancer, increased risk, association|Pseudohermaphroditism, male|Reifenstein syndrome|Spino-bulbar muscular atrophy (Kennedy disease)|Testicular dysgenesis syndrome|Urothelial carcinoma, association with|Uterine leiomyomas, association with|Very late onset of muscle weakness|Visceral adiposity and hypertension|Hypospadias.|Hypospadias, increased risk|Hypospadias|46,XY complete androgen insensitivity|Alzheimer disease, association with|Androgen insensitivity syndrome|Androgen insensitivity syndrome & Leydig cell hyperplasia|Androgen insensitivity syndrome, partial|Androgen insensitivity syndrome, partial.|Androgenetic alopecia, reduced risk, association with|Autism spectrum disorder, in females, association with|Autism spectrum disorder, protection against, in males, association with|Azoospermia, hypergonadotropic |Breast cancer, male|Defective spermatogenesis|Disorder of sex development  |Endometriosis, association with   	ICGC,
chr7	114016501	114016501	C	T	intergenic	NONE,FOXP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Verbal dyspraxia, dysmorphism and developmental delay|Verbal apraxia & dysarthria|Verbal apraxia|Speech impairment, developmental delay & congenital anomalies|Speech disorder, global development & psychomotor delay|Mental retardation, dysmorphia and language delay|Left opercular polymicrogyria|Dyspraxia and language delay|Developmental verbal dyspraxia|Childhood apraxia of speech|Autism spectrum disorder 	ICGC,
chr1	179559206	179559206	G	T	intergenic	NPHS2,TDRD5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26806225	-	PRAD-FR|1|25|0.04000	-	-	mortality/aging,reproductive system phenotype	Nephrotic syndrome, steroid-resistant|Nondiabetic end-stage renal disease, association with|Proteinuria, asymptomatic |Reduced expression|Reduced expression, association with|Thin basement membrane disease |Nephrotic syndrome, steroid resistant?|Nephrotic syndrome, steroid resistant|Nephrotic syndrome|Microalbuminuria, association with|Focal segmental glomerulosclerosis.|Focal segmental glomerulosclerosis, association with|Focal segmental glomerulosclerosis|Familial hematuria, modifier of|Adult-onset of steroid-resistant nephrotic syndrome|Thin-basement-membrane nephropathy proteinuria,-	COSMIC,ICGC,
chr10	128918877	128918877	A	T	intronic	DOCK1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15694413	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging	Potential protein deficiency	COSMIC,ICGC,
chr3	102818764	102818764	C	T	intergenic	ZPLD1,MIR548A3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Cerebral cavernous malformations,-	ICGC,
chr15	52689205	52689205	T	-	intronic	MYO5A	unknown	deletion	-	-	-	0	-	-	-	-	-	COSN509584	-	BTCA-SG|1|71|0.01408	-	-	integument phenotype	Griscelli syndrome	COSMIC,ICGC,
chr4	167673600	167673600	G	A	intronic	SPOCK3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr3	33167865	33167865	G	T	intronic	CRTAP	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17941058	-	SKCA-BR|1|100|0.01000	-	-	skeleton phenotype	Osteogenesis imperfecta, recessive|Osteogenesis imperfecta, non-lethal recessive|Osteogenesis imperfecta, autosomal recessive|Osteogenesis imperfecta	COSMIC,ICGC,
chrX	57164139	57164139	C	T	upstream	SPIN2A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr1	77577543	77577543	G	A	intronic	PIGK	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-	-	ICGC,
chr13	97179805	97179805	C	T	intronic	HS6ST3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|4|183|0.02186	-	-	-	-	ICGC,
chr7	35555652	35555667	ATAGATACATACATAC	-	intergenic	LOC401324,HERPUD2	unknown	deletion	-	-	-	0.4977	rs60941184	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr8	47287555	47287555	G	A	intergenic	NONE,LINC00293	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr7	113336813	113336813	C	T	intergenic	LINC00998,PPP1R3A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,growth/size phenotype	-,Insulin resistance, association with|Insulin resistance|Glycemia variation, association with	ICGC,
chr17	32380037	32380037	G	A	intronic	ASIC2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	taste/olfaction phenotype	Dyslexia 	ICGC,
chr11	131226169	131226169	C	T	intergenic	SNX19,NTM	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Autism spectrum disorder|Coronary heart disease, association with,Aortic aneurysm, thoracic & intracranial|Potential protein deficiency	ICGC,
chr8	62941838	62941838	T	C	intergenic	MIR4470,NKAIN3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2283821	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,Dravet syndrome   	COSMIC,ICGC,
chr13	54389072	54389072	T	C	upstream	LINC00558	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr5	60775069	60775069	T	C	intronic	ZSWIM6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr4	38832205	38832205	-	A	intronic	TLR6	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN14719680	-	-	-	-	reproductive system phenotype	Tuberculosis, susceptibility to, association with|Reduced activity|Non-Hodgkin lymphoma, increased risk, association with|Asthma, decreased risk, association with|Asthma, atopic, association with|Altered immune response to BCG vaccination, association with	COSMIC,
chr3	25103279	25103279	A	C	intergenic	MIR4792,RARB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,Microphthalmia and diaphragmatic hernia|PDAC syndrome	ICGC,
chr15	99630626	99630626	A	G	intergenic	PGPEP1L,SYNM	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,Cardiomyopathy, dilated	ICGC,
chr8	47466892	47466892	C	T	intergenic	NONE,LINC00293	unknown	SNV	-	-	-	-	rs533734088	-	0.000199681	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr17	26086230	26086230	G	T	intronic	NOS2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	integument phenotype	Non-Hodgkin lymphoma, increased risk, association with|Pancreatitis, acute, association with|Pre-eclampsia, association with|Protection against silicosis in miners|Schizophrenia|Septic shock, increased risk|Severe sepsis, protection against|Ulcerative colitis, increased risk, association with  |Urinary bladder cancer risk, association with|Vitiligo, increased risk, association with|Multiple sclerosis, association with |Migraine susceptibilty, association with|Malaria, protection against, association with|Aphthous stomatitis, recurrent, association with|Atopy, association with|Atrophic gastritis, association with.|Complications in diabetes, association with|Diabetes, type 2, association with|Diabetic retinopathy, reduced risk, association|Gastric cancer, association with.|Hyperinsulinism|Hypertension, association with|Malaria, association with 	ICGC,
chr4	35598147	35598147	A	G	intergenic	NONE,ARAP2	unknown	SNV	-	-	-	0.2283	rs7681911	-	0.216853	-	0.333	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr19	18581850	18581850	G	T	intronic	ELL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	mortality/aging	-	ICGC,
chr10	65960992	65960992	C	G	intergenic	REEP3,ANXA2P3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	28708991	28708991	G	A	intergenic	LINC01021,LSP1P3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chrX	99961929	99961929	C	T	intronic	SYTL4	unknown	SNV	-	-	-	0.4847	rs5967173	-	0.656689	-	0.435	COSN17912996	-	SKCA-BR|1|100|0.01000	-	-	endocrine/exocrine gland phenotype	Potential protein deficiency	COSMIC,ICGC,
chrX	111272660	111272660	C	T	intronic	TRPC5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	behavior/neurological phenotype	Hyperinsulinism|Intellectual disability  |Sertoli-cell-only syndrome	ICGC,
chr6	156769726	156769726	C	T	intergenic	NOX3,ARID1B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,-	-,Schizophrenia|Nicolaides-Baraitser syndrome|Intellectual disability, plantar fat pads & facial dysmorphism|Intellectual disability, corpus callosum abnormalities, speech impairment & autism|Intellectual disability & speech impairment|Intellectual disability & agenesis of corpus callossum|Intellectual disability  |Developmental delay, dysmorphic features, dysgenesis of the corpus callosum, limb anomalies & genital hypoplasia|Coffin-Siris syndrome|Autism?|Autism spectrum disorder|Autism	ICGC,
chr3	116380991	116380991	T	G	intergenic	LSAMP,TUSC7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,-	-,-	ICGC,
chr22	30187663	30187663	G	A	intronic	ASCC2	unknown	SNV	-	-	-	3.234e-05	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-	-	ICGC,
chr20	843231	843231	G	T	intergenic	FAM110A,ANGPT4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr14	88508089	88508089	G	A	ncRNA_intronic	LINC01146	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr2	137906515	137906515	G	A	intronic	THSD7B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|3|183|0.01639	-	-	-	Autism spectrum disorder	ICGC,
chr4	8016458	8016458	C	T	intronic	ABLIM2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr2	79079425	79079425	T	A	intergenic	LOC101927967,REG3G	unknown	SNV	-	-	-	0.3070	rs1521967	-	0.304513	-	0.304	-	-	LAML-KR|1|205|0.00488	-	-	-,-	-,-	ICGC,
chr12	52933661	52933661	C	G	intergenic	KRT5,KRT71	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	integument phenotype,integument phenotype	Epidermolysis bullosa, Dowling-Meara|Epidermolysis bullosa, Koebner|Epidermolysis bullosa, modifier of|Epidermolysis bullosa, Weber-Cockayne|Galli-Galli disease|Epidermolysis bullosa simplex, with verrucous carcinoma|Epidermolysis bullosa simplex, bexarotene induced|Basal cell carcinoma susceptibility|Basal cell carcinoma, reduced risk, association with |Dowling-Degos disease|Epidermolysis bullosa simplex|Epidermolysis bullosa simplex with mottled pigmentation,Woolly hair, autosomal dominant & hypotrichosis	ICGC,
chr10	83726559	83726559	G	A	intronic	NRG3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Schizophrenia, association with |Increased ventrolateral PFC activation|Hirschsprung disease  	ICGC,
chr5	144035490	144035490	A	C	intergenic	KCTD16,PRELID2	unknown	SNV	-	-	-	0.2662	rs984827	-	0.250599	-	0.326	-	-	LAML-KR|1|205|0.00488	-	-	-,-	-,-	ICGC,
chr4	137030708	137030708	-	T	intergenic	LINC00613,PCDH18	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,Intellectual disability  	ICGC,
chr8	35439396	35439396	T	C	intronic	UNC5D	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr3	71327389	71327389	C	T	intronic	FOXP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Speech delay, contractures, hypertonia & blepharophimosis|Mental retardation, speech and language deficits|Intellectual disability & autism|Intellectual disability|Delayed speech/motor development & Chiari I malformation|Congenital heart defects|Childhood apraxia of speech|Autism, speech delay and deficit of motor coordination|Autism spectrum disorder  	ICGC,
chr5	166755667	166755667	C	T	intronic	TENM2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr12	75384429	75384429	G	A	intergenic	ATXN7L3B,KCNC2	unknown	SNV	-	-	-	0.0013	rs140130674	-	0.00399361	-	0.007	-	-	MELA-AU|1|183|0.00546	-	-	-,behavior/neurological phenotype	-,Neurodevelopmental delay and ataxia	ICGC,
chr4	75904384	75904384	G	A	intronic	PARM1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Schizophrenia	ICGC,
chr16	27105728	27105728	G	A	intergenic	C16orf82,KDM8	unknown	SNV	-	-	-	3.234e-05	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,integument phenotype	-,-	ICGC,
chr16	55153076	55153076	C	T	intergenic	IRX5,IRX6	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21210851	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging,vision/eye phenotype	Defective craniofacial morphogenesis & heart, blood, bone & germ cell ontogeny,-	COSMIC,ICGC,
chrX	35363582	35363582	A	G	intergenic	FAM47B,MAGEB16	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Potential protein deficiency,Potential protein deficiency	ICGC,
chr11	65200159	65200159	T	A	intergenic	NEAT1,MIR612	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20628833	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging,-	-,-	COSMIC,ICGC,
chr3	166817056	166817056	C	T	intergenic	BCHE,ZBBX	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538,MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Serum cholinesterase deficiency|Potential protein deficiency|Obesity and triglyceride levels, association with|Hypocholinesterasaemia|Fronto-temporal dementia, association with|Cholinesterasaemia|Butyrylcholinesterase variant|Butyrylcholinesterase deficiency|Addiction to crack cocaine, association with|Acholinesterasaemia,-	ICGC,
chr5	22233226	22233226	C	T	intronic	CDH12	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21994740	-	BRCA-EU|1|569|0.00176,SKCA-BR|1|100|0.01000	-	-	-	Lung cancer, susceptibility to, association with	COSMIC,ICGC,
chr4	115869781	115869781	C	T	intronic	NDST4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr1	91504013	91504013	C	T	intergenic	ZNF644,HFM1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	High myopia |Myopia,Primary ovarian insufficiency	ICGC,
chr11	42048725	42048725	C	G	intergenic	LOC102723644,LOC100507205	unknown	SNV	-	-	-	6.457e-05	-	-	-	-	-	COSN7007772	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	COSMIC,ICGC,
chrX	103820886	103820886	C	T	intronic	IL1RAPL2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	-	ICGC,
chr8	34943943	34943943	G	A	intergenic	DUSP26,UNC5D	unknown	SNV	-	-	-	0.7305	rs2981352	-	0.738219	-	0.717	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr6	132222343	132222343	-	AT	intergenic	ENPP1,CTGF	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|4|100|0.04000	-	-	integument phenotype,integument phenotype	Major cardiovascular events in high risk individuals|Myelopathy (OPLL)|Myelopathy (OPLL), association with|Obesity & type 2 diabetes, association with|Obesity in metabolic syndrome, association with|Obesity, association with|Pseudoxanthoma elasticum|Rickets, hypophosphataemic|Rickets, hypophosphataemic & OPLL|Rickets, hypophosphataemic, autosomal recessive|Stroke, reduced risk in sickle cell anaemia|Liver damage in NAFLD|Insulin resistance, association with|Chondrocalcinosis, association with.|Cole disease|Decreased kidney function|Diabetes, association with |Diabetes, type 2, association with.|Diabetic nephropathy, increased risk, association with|Generalized arterial calcification of infancy|Generalized arterial calcification of infancy and pseudoxanthoma elasticum|Hypertriglyceridaemia in males, association with|Hypertriglyceridemia in males, association with|Idiopathic infantile arterial calcification,Hepatic fibrosis, association with|Nephropathy, in type 1 diabetes, association with|Systemic sclerosis, association with	ICGC,
chr13	37156895	37156895	T	C	intergenic	CCNA1,SERTM1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	-,-	ICGC,
chr2	124697099	124697099	T	A	intergenic	NONE,CNTNAP5	unknown	SNV	-	-	-	0.0004	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	-,Autism	ICGC,
chr18	49054973	49054973	C	T	ncRNA_intronic	LOC100287225	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr8	117909876	117909876	C	G	intergenic	RAD21-AS1,AARD	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	ICGC,
chr9	136601859	136601859	A	G	intronic	SARDH	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Sarcosinemia	ICGC,
chr17	74157617	74157617	G	T	exonic	RNF157	nonsynonymous	SNV	0.034	0.001	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr10	121259769	121259769	G	T	exonic	RGS10	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM5831399	BRCA|1|982|0.00102	BRCA-US|1|955|0.00105	-	-	mortality/aging	-	COSMIC,COSMIC,TCGA,ICGC,
chr3	76425820	76425820	G	A	intergenic	ZNF717,ROBO2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	Potential protein deficiency,Autism spectrum disorder  |Urinary tract anomalies|Vesicoureteral reflux	ICGC,
chr2	154242392	154242392	-	GAAAT	intergenic	ARL6IP6,RPRM	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	Autism spectrum disorder|Bardet-Biedl like features,-	ICGC,
chr10	130375175	130375175	T	C	intergenic	LINC01163,MGMT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,mortality/aging	-,MGMT methylation in malignant pleural mesothelioma, association with|Non-Hodgkin lymphoma, increased risk|Pancreatic cancer, increased risk, association with|Promoter methylation and longer survival in glioblastoma patients, association with|Promoter methylation in colorectal cancer |MGMT methylation in lung cancer, increased risk, association with|MGMT methylation in colorectal cancer, association with|Lung cancer, risk, association with|Glioblastoma, reduced risk, association with |Endometrial cancer risk, association with|Cervical carcinoma, increased risk, association with|Cancer, increased risk|Altered enzyme activity	ICGC,
chr11	2479875	2479875	-	AGAT	intronic	KCNQ1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	behavior/neurological phenotype	QT interval prolongation|Noise-induced hearing loss, susceptibility to, association|Long QT syndrome.|Long QT syndrome, modifier of|Long QT syndrome & atrial fibrillation|Long QT syndrome|Jervell and Lange-Nielsen syndrome.|Reduced triglyceride levels, association with|Romano-Ward and incomplete Jervell Lange-Nielsen syndromes|Romano-Ward syndrome|Short QT syndrome|Short QT syndrome.|Sinus bradycardia, familial atrial fibrillation and long QT syndrome.|Stressful life events associated with arrhythmic events in LQTS p|Sudden infant death syndrome|Sudden unexplained death  |Jervell and Lange-Nielsen syndrome without sensorineural deafness|Jervell and Lange-Nielsen syndrome|Altered channel function|Atrial fibrillation|Atrial fibrillation and bradycardia|Atrial fibrillation and Long QT syndrome.|Atrial fibrillation, lone, early-onset|Atrial fibrillation, lone, early-onset.|Atrial fibrillation, susceptibility to |Atrial fibrillation.|Beckwith-Wiedemann syndrome|Increased risk of unexplained sudden death in patients administered psychotropic drug therapy|Hyperinsulinaemia and symptomatic hypoglycaemia, with long QT syndrome.|Diabetes, type 2, increased risk, association  |Deafness  |Cardiomyopathy, hypertrophic.|Cardiac defects|Beckwith-Wiedemann syndrome & long QT syndrome	ICGC,
chr10	1270544	1270544	C	T	intronic	ADARB2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	-	-	ICGC,
chrX	99506775	99506775	G	T	intergenic	XRCC6P5,PCDH19	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,Tonic seizures|Seizures|Generalized tonic-clonic seizures|Focal seizures with secondary generalization|Focal epilepsy|Epileptic encephalopathy|Epilepsy, early-onset|Epilepsy and mental retardation limited to females|Epilepsy & mental retardation|Dravet syndrome  |Asperger syndrome	ICGC,
chr4	63609771	63609771	T	G	intergenic	LPHN3-AS1,TECRL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	ICGC,
chr1	74730082	74730082	A	C	intronic	FPGT-TNNI3K,TNNI3K	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,Potential protein deficiency	ICGC,
chr2	81206705	81206705	T	C	intergenic	CTNNA2,LOC100507201	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	Schizophrenia,-	ICGC,
chr14	32096513	32096513	G	A	intronic	NUBPL	unknown	SNV	-	-	-	-	rs760901382	-	-	-	-	COSN21121984	-	BRCA-EU|1|569|0.00176	-	-	-	Progressive nystagmus, cerebellar ataxia, pyramidal signs & slurred speech|Complex I deficiency	COSMIC,ICGC,
chr9	115058600	115058600	A	G	ncRNA_intronic	MIR3134	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25909192	-	EOPC-DE|1|202|0.00495	-	-	-	-	COSMIC,ICGC,
chr3	7525332	7525332	A	T	intronic	GRM7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging	Schizophrenia, association with  |Autism |Attention deficit hyperactivity disorder	ICGC,
chr8	137290246	137290246	G	A	intergenic	KHDRBS3,FAM135B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr13	22021618	22021618	T	C	intronic	ZDHHC20	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr6	81019664	81019664	A	G	intronic	BCKDHB	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2179447	-	LIRI-JP|1|258|0.00388	-	-	-	Maple syrup urine disease	COSMIC,ICGC,
chrX	154294205	154294205	G	T	exonic	MTCP1	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM312961	-	-	-	-	-	-	COSMIC,COSMIC,
chr2	99156335	99156335	C	T	intronic	INPP4A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Atopic asthma, reduced risk, association with	ICGC,
chr4	120643979	120643979	G	A	intergenic	PDE5A,LINC01365	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr6	74223710	74223710	G	A	intergenic	MTO1,EEF1A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	Hypertrophic cardiomyopathy & lactic acidosis|Hypertrophic cardiomyopathy, lactic acidosis and respiratory chain deficiency,-	ICGC,
chr16	19063180	19063180	G	T	intronic	TMC7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr13	90413711	90413711	C	T	intergenic	LINC00353,LINC00559	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	63753798	63753798	T	C	intergenic	LPHN3-AS1,TECRL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr10	132921289	132921289	T	C	intronic	TCERG1L	unknown	SNV	-	-	-	0.6600	rs11017736	-	0.750998	-	0.754	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr1	3785000	3785000	A	C	intronic	DFFB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	hematopoietic system phenotype	-	ICGC,
chr1	33149706	33149706	-	CCATTTT	UTR3	RBBP4	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	RECA-EU|1|422|0.00237	-	-	-	-	ICGC,
chr3	22553214	22553214	C	T	intergenic	ZNF385D-AS2,UBE2E2	unknown	SNV	-	-	-	-	rs778413805	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr14	98127578	98127578	C	T	ncRNA_intronic	LOC100129345	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chrX	102969991	102969991	-	CGCA	intronic	GLRA4	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	Autism spectrum disorder	ICGC,
chr1	216077182	216077182	A	C	intronic	USH2A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	UTCA-FR|1|20|0.05000	-	-	vision/eye phenotype	Retinitis pigmentosa?|Retinitis pigmentosa.|Sensorineural hearing loss, nonsyndromic  |Usher syndrome  |Usher syndrome 1  |Usher syndrome 2|Usher syndrome 2a|Usher syndrome 3 |Retinitis pigmentosa, recessive, no hearing loss|Retinitis pigmentosa, autosomal recessive.|Retinitis pigmentosa, autosomal recessive |Retinitis pigmentosa|Retinal degeneration|Hearing loss, early-childhood|Deafness, non-syndromic |Deafness  |Autism spectrum disorder|Autism	ICGC,
chr8	123409834	123409834	A	C	intergenic	HAS2-AS1,ZHX2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,homeostasis/metabolism phenotype	-,-	ICGC,
chr18	40728975	40728975	G	A	intergenic	RIT2,SYT4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,behavior/neurological phenotype	-,-	ICGC,
chr16	81730809	81730809	G	A	intronic	CMIP	unknown	SNV	-	-	-	0.4360	rs7186510	-	0.354633	-	0.471	-	-	LAML-KR|1|205|0.00488	-	-	-	Autism spectrum disorder and developmental delay	ICGC,
chr15	95417698	95417698	G	A	intergenic	LOC440311,LINC01197	unknown	SNV	-	-	-	3.254e-05	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr6	84484378	84484378	C	T	intergenic	SNAP91,RIPPLY2	unknown	SNV	-	-	-	-	rs151262518	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,-	ICGC,
chr11	38473020	38473020	G	A	intergenic	C11orf74,LOC103312105	unknown	SNV	-	-	-	0.2965	rs34310998	-	0.305112	-	0.428	-	-	ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488	-	-	-,-	-,-	ICGC,
chr15	51957774	51957774	C	T	intergenic	DMXL2,SCG3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	-,Metabolic syndrome, association with |Obesity, association with	ICGC,
chr7	57371917	57371917	G	A	intergenic	GUSBP10,MIR3147	unknown	SNV	-	-	-	0.0126	rs185775614	-	0.0115815	-	0.014	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr6	158975222	158975222	A	T	intronic	TMEM181	unknown	SNV	-	-	-	0.2581	rs113825206	-	0.221446	-	0.370	-	-	LAML-KR|1|205|0.00488	-	-	-	-	ICGC,
chr19	24516887	24516887	T	C	intergenic	HAVCR1P1,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr2	58568413	58568413	G	A	intergenic	FANCL,LINC01122	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Oesophageal cancer|Fanconi anaemia,-	ICGC,
chr6	115622817	115622817	C	T	intergenic	HS3ST5,FRK	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,homeostasis/metabolism phenotype	-,Potential protein deficiency	ICGC,
chr13	111903297	111903297	G	T	intronic	ARHGEF7	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9742847	-	RECA-EU|1|422|0.00237	-	-	-	Altered p53 binding	COSMIC,ICGC,
chr16	12054468	12054468	G	A	intergenic	GSPT1,TNFRSF17	unknown	SNV	-	-	-	0.0002	rs146370746	-	0.000199681	-	-	-	-	LAML-KR|1|205|0.00488	-	-	-,hematopoietic system phenotype	Cancer suceptibility, association with,-	ICGC,
chr16	10292690	10292690	G	A	intergenic	GRIN2A,ATF7IP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Intellectual disability  |Landau-Kleffner syndrome|Landau-Kleffner syndrome, atypical rolandic epilepsy, dysphasia, CSWS syndrome|Landau-Kleffner syndrome, verbal dyspraxia|Landau-Kleffner syndrome/benign epilepsy with centrotemporal spikes/atypical benign partial epilepsy|Mental retardation with abnormal EEG|Partial epilepsy, atypical benign|Rolandic epilepsy |Schizophrenia|Schizophrenia, chronic outcome, association with|Seizure disorders of rolandic region & intellectual disability|Increased hippocampal and amygdala volumes, association with|Epileptic encephalopathy, verbal dyspraxia|Epileptic encephalopathy, benign childhood epilepsy|Alcohol dependence, association with|Atypical rolandic epilepsy, absence epilepsy|Atypical rolandic epilepsy, verbal dyspraxia|Benign epilepsy with centrotemporal spikes|Epilepsy with cognitive impairment|Epilepsy-aphasia syndrome|Epilepsy, childhood-onset|Epileptic encephalopathy|Epileptic encephalopathy, abnormal EEG & developmental delay|Epileptic encephalopathy, atypical rolandic epilepsy, dysphasia|Epileptic encephalopathy, atypical rolandic epilepsy, verbal dyspraxia,-	ICGC,
chr14	43960736	43960736	A	T	intergenic	LRFN5,FSCB	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27808297	-	UTCA-FR|1|20|0.05000	-	-	-,-	Short stature|Developmental delay, seizures & learning problems ,Tourette syndrome 	COSMIC,ICGC,
chr4	97633689	97633689	T	A	intergenic	PDHA2,STPG2-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6851014	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr22	16480424	16480424	G	A	intergenic	OR11H1,CCT8L2	unknown	SNV	-	-	-	0.2235	rs200197183	-	0.153754	-	-	-	-	LICA-CN|1|402|0.00249,SKCA-BR|1|100|0.01000	-	-	-,-	-,Schizophrenia	ICGC,
chr2	154825277	154825277	C	T	intronic	GALNT13	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	normal phenotype	-	ICGC,
chrX	151619836	151619837	TC	-	upstream	GABRA3	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	behavior/neurological phenotype	Decreased expression	ICGC,
chrX	18515464	18515464	T	A	intronic	CDKL5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	Infantile spasms|Mental disability, hypotonia, and intractable epilepsy|Mental retardation and epilepsy|Mental retardation, X-linked|Myoclonic encephalopathy|Precocious puberty|Rett syndrome|Rett syndrome, atypical|Rett syndrome, Hanefeld variant|Rett syndrome, variant, with infantile spasms|Rett syndrome, variant, with infantile spasms.|Seizures |Seizures, early-onset|West syndrome|Infantile spasm syndrome, X-linked|Epileptic seizures, early-onset|Epileptic encephalopathy, early-onset|Angelman syndrome|CDKL5 disorder|CDKL5 disorder.|Encephalopathy|Encephalopathy with early epilepsy|Encephalopathy with refractory epilepsy|Encephalopathy, epileptic|Epilepsy and psychomotor retardation|Epileptic encephalopathy, early onset|Epileptic encephalopathy with hypermotor-tonic-spasms|Epileptic encephalopathy  |Epilepsy, early-onset.|Epilepsy, early-onset|Epilepsy with cognitive impairment / autism spectrum disorder	ICGC,
chr7	138691942	138691942	CC	TT	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr8	111700571	111700571	T	G	intergenic	KCNV1,CSMD3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	behavior/neurological phenotype,-	-,Schizophrenia  |Colorectal cancer 	ICGC,
chrX	11972731	11972731	A	G	intergenic	MSL3,FRMPD4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16263051	-	PRAD-CA|1|308|0.00325	-	-	-,integument phenotype	-,Mental retardation, X-linked	COSMIC,ICGC,
chr10	90582738	90582738	T	G	exonic	ANKRD22	nonsynonymous	SNV	0.017	0.722	-	-	-	-	-	-	-	COSM4016474	STAD|1|395|0.00253,STES|1|395|0.00253	STAD-US|1|289|0.00346	-	-	-	Schizophrenia	COSMIC,TCGA,ICGC,
chr19	9052623	9052623	G	A	intronic	MUC16	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr12	89063104	89063104	A	G	intergenic	KITLG,LOC728084	unknown	SNV	-	-	-	3.228e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Progressive hyperpigmentation|Progressive hyper- and hypopigmentation|Cancer, susceptibility to,-	ICGC,
chr9	81282802	81282802	G	A	intergenic	PSAT1,LOC101927450	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332,MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Schizophrenia |Phosphoserine aminotransferase deficiency,-	ICGC,
chr1	164450973	164450973	T	G	intergenic	LOC100422212,PBX1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,integument phenotype	-,Schizophrenia	ICGC,
chr15	28968259	28968259	G	A	intergenic	GOLGA8M,WHAMMP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	196245531	196245531	C	T	intronic	KCNT2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr3	60195198	60195198	C	T	intronic	FHIT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	-	ICGC,
chr4	146165474	146165474	C	A	intergenic	OTUD4,SMAD1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6804772	-	LIRI-JP|1|258|0.00388	-	-	-,mortality/aging	Autism spectrum disorder|Hypogonadotropic hypogonadism, ataxia & dementia,Pulmonary arterial hypertension	COSMIC,ICGC,
chrX	141055673	141055673	T	G	intergenic	MAGEC1,MAGEC2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Prostate cancer, predisposition to,-	ICGC,
chrX	30170588	30170588	C	T	intergenic	IL1RAPL1,MAGEB2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	nervous system phenotype,-	Mental retardation, X-linked|Mental retardation with dysmorphic features|Mental retardation and autism|Intellectual disability, X-linked with dysmorphism|Intellectual disability, X-linked|Intellectual disability, dysmorphic signs, deafness & behavioural problems|Intellectual disability & behavioural problems|Developmental delay, learning disability & microcephaly|Autism spectrum disorder  |Asperger syndrome,-	ICGC,
chr9	83016186	83016186	T	C	intergenic	LOC101927477,TLE1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr22	27467763	27467763	G	T	intergenic	LINC01422,MN1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27700871	-	NKTL-SG|1|50|0.02000	-	-	-,mortality/aging	-,-	COSMIC,ICGC,
chr7	158368377	158368377	C	T	intronic	PTPRN2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	homeostasis/metabolism phenotype	-	ICGC,
chrX	71265468	71265468	C	T	intronic	NHSL2	unknown	SNV	-	-	-	4.67e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr20	14014541	14014541	C	T	intronic	MACROD2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Kabuki syndrome|Attention deficit hyperactivity disorder 	ICGC,
chr11	66098445	66098445	G	T	intergenic	CD248,RIN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	immune system phenotype,behavior/neurological phenotype	-,-	ICGC,
chr11	70186327	70186327	C	T	intronic	PPFIA1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr11	14006945	14006945	T	G	intronic	SPON1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN10081808	-	RECA-EU|1|422|0.00237	-	-	-	-	COSMIC,ICGC,
chr12	74114361	74114361	A	T	intergenic	LOC101928137,LOC100507377	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN4731489	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	COSMIC,ICGC,
chr6	22137444	22137444	C	A	ncRNA_intronic	CASC14,CASC15	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr9	91956351	91956351	C	T	exonic	SECISBP2	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM284867	COAD|1|367|0.00272,COADREAD|1|489|0.00204	-	-	-	other phenotype	Abnormal thyroid hormone metabolism|Growth retardation, low serum selenium & thyroid abnormalities|Potential protein deficiency|Selenoprotein-related disease	COSMIC,TCGA,
chr6	78734659	78734659	G	A	intergenic	MEI4,IRAK1BP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,no phenotypic analysis	-,-	ICGC,
chr2	54558	54558	A	T	intergenic	FAM110C,SH3YL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	-,-	ICGC,
chr6	86614167	86614167	G	A	intergenic	SNHG5,HTR1E	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr10	91670120	91670120	C	T	intergenic	LINC00865,LINC01375	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr3	106370722	106370722	G	A	intergenic	CBLB,LINC00882	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype,-	Diabetes, type 1,-	ICGC,
chr4	107273511	107273511	G	A	intergenic	AIMP1,GIMD1	unknown	SNV	-	-	-	0.0016	rs190471861	-	0.00139776	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	immune system phenotype,-	Pelizaeus-Merzbacher-like disease,-	ICGC,
chr1	229567859	229567859	C	T	exonic	ACTA1	synonymous	SNV	-	-	4.071e-06	-	rs569500994	8.393e-06	-	-	-	COSM4659087	-	-	-	-	mortality/aging	Intranuclear rods myopathy.|Nemaline myopathy|Nemaline myopathy and dilated cardiomyopathy|Nemaline myopathy and hypertrophic cardiomyopathy|Neuromuscular disorder|Fibre type disproportion, congenital|Fetal akinesia  |Core myopathy|Congenital myopathy with fibre-type disproportion|Congenital myopathy|Cap myopathy|Actin myopathy	COSMIC,
chr21	22785491	22785491	G	A	intronic	NCAM2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	taste/olfaction phenotype	-	ICGC,
chr15	33263662	33263662	T	A	intronic	FMN1	unknown	SNV	-	-	-	6.457e-05	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	integument phenotype	Autism spectrum disorder|Oligosyndactyly, radioulnar synostosis, hearing loss, renal defect	ICGC,
chr2	44306509	44306509	A	-	intergenic	LRPPRC,PPM1B	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373,PBCA-US|1|186|0.00538	-	-	mortality/aging,mortality/aging	Cytochrome c oxidase deficiency,-	ICGC,
chr18	13793242	13793242	C	T	intergenic	RNMT,MC5R	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,-	ICGC,
chr11	20388451	20388451	-	T	intronic	HTATIP2	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN22814447	-	-	-	-	integument phenotype	-	COSMIC,
chr18	10677847	10677847	C	T	exonic	PIEZO2	nonsynonymous	SNV	0.094	1.0	-	-	-	-	-	-	-	COSM4558341	-	-	-	-	-	Marden-Walker syndrome|Lung cancer, susceptibility to in never smokers, association with |Gordon syndrome / arthrogryposis, distal, type 5|Gordon syndrome|Arthrogryposis, distal, type 5	COSMIC,COSMIC,
chr1	238975597	238975597	T	C	intergenic	LINC01139,CHRM3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,vision/eye phenotype	-,Autistic disorder|Bladder malformation|Diabetes, type 2, increased risk, association |Tetralogy of Fallot	ICGC,
chr6	93843186	93843186	T	C	intergenic	CASC6,EPHA7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,nervous system phenotype	-,Development delay and dysmorphic features|Leukemia, risk, association with 	ICGC,
chr16	29204393	29204393	T	C	intergenic	RRN3P2,SNX29P2	unknown	SNV	-	-	-	0.4557	rs77983252	-	-	-	-	COSN17480629	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	COSMIC,ICGC,
chr18	36900854	36900854	C	T	ncRNA_intronic	LINC00669	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr6	99027352	99027352	C	T	intergenic	MIR2113,POU3F2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,integument phenotype	-,-	ICGC,
chr4	34876654	34876654	C	T	intergenic	NONE,ARAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	ICGC,
chr10	23759154	23759154	C	A	intergenic	OTUD1,KIAA1217	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,mortality/aging	-,Autism spectrum disorder	ICGC,
chr6	71892926	71892926	C	A	intergenic	B3GAT2,OGFRL1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22427166	-	BRCA-UK|1|141|0.00709,BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr9	105498758	105498758	T	C	intergenic	LINC00587,CYLC2	unknown	SNV	-	-	-	0.1584	rs148937142	-	0.197284	-	0.080	-	-	ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488	-	-	-,-	-,Potential protein deficiency	ICGC,
chrX	117581252	117581252	T	G	intronic	WDR44	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	normal phenotype	-	ICGC,
chr2	179887679	179887679	G	A	intronic	CCDC141	unknown	SNV	-	-	-	3.233e-05	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr12	19949928	19949928	T	A	intergenic	AEBP2,LOC100506393	unknown	SNV	-	-	-	0.4765	rs7973787	-	0.545727	-	0.406	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,-	-,-	ICGC,
chr16	60233706	60233706	C	G	intergenic	LOC101927580,LOC729159	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17629973	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr11	112812425	112812425	C	T	intergenic	LOC387810,LOC101928847	unknown	SNV	-	-	-	3.229e-05	rs144266431	-	0.000399361	-	-	-	-	LICA-CN|1|402|0.00249,MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr10	87699925	87699925	G	A	intronic	GRID1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	skeleton phenotype	Autism spectrum disorder, association with	ICGC,
chr11	75135000	75135000	C	T	intronic	KLHL35	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr13	73727193	73727193	C	G	intergenic	KLF5,LINC00392	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	Hypertension, association with,-	ICGC,
chr2	127458631	127458631	C	T	intergenic	GYPC,BIN1	unknown	SNV	-	-	-	9.686e-05	rs575395316	-	0.000199681	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	Glycophorin C variant|Gerbich-negative blood group|Elliptocytosis|Duch blood group,Myopathy, centronuclear, autosomal recessive|Alzheimer disease, increased risk	ICGC,
chrX	67830266	67830266	C	G	intergenic	YIPF6,STARD8	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5469818	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging,-	-,-	COSMIC,ICGC,
chr6	142450277	142450277	C	T	intergenic	NMBR,VTA1	unknown	SNV	-	-	-	0.3797	rs225601	-	0.304912	-	0.297	-	-	SKCA-BR|1|100|0.01000	-	-	behavior/neurological phenotype,-	-,-	ICGC,
chr18	71292450	71292450	G	A	intergenic	LOC100505817,FBXO15	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,normal phenotype	-,-	ICGC,
chr21	45706785	45706785	T	C	intronic	AIRE	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN18429208	-	-	-	-	mortality/aging	Systemic sclerosis with autoimmune thyroiditis|Rheumatoid arthritis, susceptibility, association |Rheumatoid arthritis, association with|Hypoparathyroidism without APECED |Autoimmune polyglandular syndrome type 1|Autoimmune polyendocrine syndrome type 1.|Autoimmune hepatitis, association with|Autoimmune hepatitis 2|APECED|Alopecia universalis, association with|Addison's disease, autoimmune.|Addison disease with autoimmune thyroiditis	COSMIC,
chr15	56383969	56383969	G	T	UTR3	RFX7	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26603189	-	LICA-CN|1|402|0.00249	-	-	-	-	COSMIC,ICGC,
chr10	50353974	50353974	G	A	ncRNA_intronic	FAM170B-AS1	unknown	SNV	-	-	-	3.233e-05	rs548323857	-	-	-	-	-	-	RECA-EU|1|422|0.00237	-	-	-	-	ICGC,
chr6	72364597	72364597	C	A	intergenic	LOC102724000,RIMS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22324830	-	BRCA-EU|1|569|0.00176	-	-	-,mortality/aging	-,Autism|Cone-rod dystrophy|Retinitis pigmentosa, autosomal dominant	COSMIC,ICGC,
chr17	42818777	42818777	C	G	exonic	DBF4B	nonsynonymous	SNV	0.044	1.0	-	-	-	-	-	-	-	COSM77560	OV|1|469|0.00213	-	-	-	-	Autism spectrum disorder	COSMIC,TCGA,
chr20	59193345	59193345	G	A	intergenic	MIR4533,LOC100506470	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr11	18270189	18270189	C	T	UTR5	SAA2,SAA2-SAA4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Carotid intima media thickness, association with,-	ICGC,
chr15	58063036	58063036	G	C	intergenic	GCOM1,ALDH1A2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,Pentalogy of Cantrell|Tetralogy of Fallot	ICGC,
chr8	40709365	40709365	C	A	intronic	ZMAT4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9634955	-	OV-AU|1|93|0.01075	-	-	-	-	COSMIC,COSMIC,ICGC,
chr7	69120185	69120185	A	-	intronic	AUTS2	unknown	deletion	-	-	-	6.689e-05	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	Speech & language disorder, tonic-clonic movements & pes planus|Myoclonic epilepsy, juvenile |Mental retardation|Intellectual disability, syndromic  |Epilepsy, nonlesional |Developmental delay, intellectual disability, short stature, ptosis & dysmorphism|Developmental delay  |Autism spectrum disorder  |Autism	ICGC,
chr2	193242603	193242603	C	T	intergenic	TMEFF2,PCGEM1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	-,-	ICGC,
chr11	39153139	39153139	-	CAAACA	intergenic	LOC101928536,LRRC4C	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr16	77759596	77759596	G	A	intronic	NUDT7	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN509776	-	-	-	-	-	Autism spectrum disorder|Colorectal cancer 	COSMIC,
chr12	82465886	82465886	G	A	intergenic	LOC101928449,CCDC59	unknown	SNV	-	-	-	6.46e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr19	58775304	58775304	C	A	downstream	ZNF544	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26886731	-	UTCA-FR|1|20|0.05000	-	-	-	Potential protein deficiency	COSMIC,ICGC,
chr15	31500492	31500492	C	A	intergenic	TRPM1,LOC283710	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8741616	-	OV-AU|1|93|0.01075	-	-	vision/eye phenotype,-	Stationary night blindness, congenital |Stationary night blindness, autosomal dominant congenital |Schizophrenia|Potential protein deficiency|Night blindness |Autism spectrum disorder,-	COSMIC,ICGC,
chr8	6741746	6741746	C	T	intergenic	DEFB1,DEFA6	unknown	SNV	-	-	-	0.0089	rs188891667	-	0.00559105	-	-	-	-	LAML-KR|1|205|0.00488	-	-	mortality/aging,-	Low levels of Candida carriage, association with |Mother-to-child transmission of HIV-1, association with|Periodontitis, increased risk, association with|Reduced transcriptional activity|Systemic lupus erythematosus, association with.|Systemic lupus erythematosus, protection against, association with.|Lepromatous leprosy, association with|HIV-1 infection, association with |Cystic fibrosis, lung phenotype modifier|Atopic dermatitis severity, association with|Atopic dermatitis, association with|Atopic dermatitis, association with.|Atopic dermatitis, protection against, association with.|Chronic obstructive pulmonary disease, association|chronic periodontitis, association with,-	ICGC,
chr3	149854908	149854908	A	G	intergenic	LOC646903,LINC01213	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr15	43579692	43579692	G	A	intronic	TGM7	unknown	SNV	-	-	0.0001	0.0004	rs373360169	0.0001	0.000798722	0.0002	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr11	7204570	7204570	-	ACA	intergenic	RBMXL2,SYT9	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	Impaired spermatogenesis ,-	ICGC,
chr6	72802951	72802951	G	A	intronic	RIMS1	unknown	SNV	-	-	-	0.0030	rs370792565	-	-	-	-	COSN6514483	-	LINC-JP|1|394|0.00254	-	-	mortality/aging	Autism|Cone-rod dystrophy|Retinitis pigmentosa, autosomal dominant	COSMIC,ICGC,
chr3	85124638	85124638	A	T	intronic	CADM2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr19	52443005	52443005	T	C	intronic	ZNF613	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr1	83337426	83337426	A	C	intergenic	LPHN2,LINC01361	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,-	Schizophrenia,-	ICGC,
chr7	126007665	126007665	C	G	intergenic	LOC101928283,GRM8	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17354370	-	ESAD-UK|1|301|0.00332	-	-	-,behavior/neurological phenotype	-,Attention deficit hyperactivity disorder|Autism spectrum disorder  	COSMIC,ICGC,
chr21	29631742	29631742	C	T	intergenic	LINC00314,LINC00161	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	208105259	208105259	G	A	ncRNA_intronic	LOC101927865	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1232402	-	-	-	-	-	-	COSMIC,
chr4	27996074	27996074	T	C	intergenic	STIM2,MIR4275	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	-,-	ICGC,
chr4	147990799	147990799	G	A	intergenic	TTC29,EDNRA	unknown	SNV	-	-	-	0.1269	rs34504426	-	0.143371	-	0.101	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,Reduced pulmonary function, in cystic fibrosis, association with|Myocardial infarction|Migraine, association with|Intracranial aneurysm, increased risk, association with|Hypertension, protection against, association with |Hernia, diaphragmatic |Congenital absence of the vas deferens, association with|Breast cancer, susceptibility to, association with|Adrenal hyperplasia, macronodular, ACTH-independent	ICGC,
chr17	17357204	17357204	C	T	intergenic	SMCR9,MED9	unknown	SNV	-	-	-	9.689e-05	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	ICGC,
chr16	46414244	46414244	T	C	intergenic	NONE,ANKRD26P1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr12	67201648	67201648	A	T	intergenic	GRIP1,LOC102724421	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	integument phenotype,-	Autism|Fraser syndrome|Schizophrenia and epilepsy,-	ICGC,
chr11	84022936	84022936	C	A	intronic	DLG2	unknown	SNV	-	-	-	0.3687	rs7121214	-	0.402756	-	0.312	-	-	LAML-KR|1|205|0.00488	-	-	integument phenotype	Schizophrenia and epilepsy|Myopathy  |Intellectual disability, autism and epilepsy|Hypochondriasis|Dysmorphic features & speech delay|Developmental delay and dysmorphic features|Developmental delay  	ICGC,
chr4	34519509	34519509	T	C	intergenic	NONE,ARAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-UK|1|140|0.00714	-	-	-,-	-,-	ICGC,
chr12	38657348	38657348	-	A	intergenic	NONE,ALG10B	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,Acquired long QT syndrome, protection against, association|Acquired long QT syndrome	ICGC,
chr12	41564395	41564395	A	G	intergenic	CNTN1,PDZRN4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	Myopathy, lethal congenital|Pancreatic cancer ,-	ICGC,
chr13	34627790	34627790	G	A	intergenic	RFC3,LINC00457	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	149627728	149627732	TAAAA	-	intronic	RNF13	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	-	ICGC,
chr8	108969919	108969919	T	A	intronic	RSPO2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22007578	-	BRCA-EU|1|569|0.00176	-	-	integument phenotype	Pancreatic cancer 	COSMIC,ICGC,
chr12	25138403	25138403	C	T	intergenic	BCAT1,C12orf77	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5939412	-	LIRI-JP|1|258|0.00388	-	-	-,-	Schizophrenia  ,-	COSMIC,ICGC,
chr12	2501468	2501468	C	T	intronic	CACNA1C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Timothy syndrome|Schizophrenia / bipolar disorder, assoc with |Schizophrenia  |Long QT syndrome.|Long QT syndrome|Early repolarization syndrome|Cardiomyopathy, hypertrophic.|Cardiomyopathy, hypertrophic|Cardiac arrhythmia|Brugada syndrome (shorter-than-normal QT interval)|Autism spectrum disorder	ICGC,
chr10	34644579	34644579	G	A	intronic	PARD3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Neural tube defects	ICGC,
chr17	68640276	68640276	G	A	intergenic	KCNJ2,CASC17	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16071248	-	PACA-CA|1|268|0.00373	-	-	mortality/aging,-	Long QT syndrome|Long QT syndrome.|Periodic paralysis|Short QT syndrome|Short QT syndrome 3|Sudden cardiac death  |Ventricular tachycardia|Catecholaminergic polymorphic ventricular tachycardia.|Atrial fibrillation.|Andersen syndrome|Andersen syndrome & catecholaminergic polymorphic ventricular tachycardia mimickry|Andersen-Tawil syndrome|Andersen-Tawil syndrome, without cardiac involvement|Andersen-Tawil syndrome.|Arrhythmia|Atrial fibrillation,-	COSMIC,COSMIC,ICGC,
chr7	37606639	37606639	-	TT	intergenic	ELMO1,GPR141	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|2|67|0.02985	-	-	reproductive system phenotype,-	-,-	ICGC,
chr11	86233263	86233263	G	A	intronic	ME3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr16	75780952	75780952	C	G	intergenic	TERF2IP,CNTNAP4	unknown	SNV	-	-	-	0.0008	rs138300034	-	0.00339457	-	-	-	-	LAML-KR|1|205|0.00488	-	-	mortality/aging,-	-,Autism	ICGC,
chr8	92191244	92191244	T	G	intronic	LRRC69	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Autism spectrum disorder	ICGC,
chr6	153980381	153980381	G	A	intergenic	RGS17,OPRM1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Striatal dopamine response to alcohol|Post-operative pain response, association with|Pressure pain sensitivity in females, association with|Proinflammatory cytokine levels and health perception, association with|Reduced agonist potency|Reduced agonist potency, association with|Reduced expression|Reduced promoter activity|Smoking behaviour, increased susceptibility|Pain perception, association with|Increased promoter activity|Impaired receptor signalling|Addiction, association with|Altered beta-endorphin binding, association with|Altered reinforcement learning, association with|Altered trafficking and/or signalling|Decreased body mass index, association with|Decreased receptor expression|Drug intake, association with |Epilepsy|Epilepsy, association with 	ICGC,
chr9	119551183	119551183	G	A	intronic	ASTN2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Autism spectrum disorder |Intellectual disability  |Schizophrenia  	ICGC,
chr10	92996162	92996162	C	A	intronic	PCGF5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-	-	ICGC,
chr2	187083819	187083819	T	C	intergenic	LOC101927217,ZC3H15	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr17	58287894	58287894	C	A	intronic	USP32	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6108334	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr16	49572876	49572876	C	T	intronic	ZNF423	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27837706	-	UTCA-FR|1|20|0.05000	-	-	mortality/aging	Hypoplastic left heart syndrome|Nephronophthisis-related ciliopathy	COSMIC,ICGC,
chr10	8661836	8661836	G	A	intergenic	LINC00708,LOC101928272	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr10	27774200	27774200	C	T	intergenic	PTCHD3,RAB18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,no phenotypic analysis	Potential protein deficiency|Null allele|Colorectal cancer?|Colorectal cancer|Autism spectrum disorder,Warburg Micro syndrome	ICGC,
chr2	197182046	197182046	G	A	exonic	HECW2	nonsynonymous	SNV	0.017	0.999	2.448e-05	3.229e-05	rs143599492	2.765e-05	-	7.7e-05	-	COSM4689947	-	-	-	-	-	-	COSMIC,
chr5	89320172	89320172	A	T	intergenic	MIR3660,LINC01339	unknown	SNV	-	-	-	6.472e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	105158672	105158672	T	C	intergenic	RAB9BP1,LOC102467213	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	ICGC,
chr9	108439665	108439665	C	G	intergenic	TAL2,TMEM38B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21413466	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	mortality/aging,mortality/aging	-,Osteogenesis imperfecta, autosomal recessive	COSMIC,COSMIC,ICGC,
chrX	69895085	69895085	T	C	intronic	TEX11	unknown	SNV	-	-	-	4.599e-05	rs774102130	-	0.000264901	-	-	COSN25349382	-	MALY-DE|1|241|0.00415	-	-	reproductive system phenotype	-	COSMIC,ICGC,
chr11	56768635	56768635	A	G	intergenic	OR5AK2,OR5AK4P	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1538571	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr5	84202428	84202428	C	T	intergenic	EDIL3,NBPF22P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	immune system phenotype,-	Schizophrenia  ,-	ICGC,
chr12	37878451	37878451	A	C	intergenic	NONE,ALG10B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Acquired long QT syndrome, protection against, association|Acquired long QT syndrome	ICGC,
chrX	81066727	81066727	C	A	intergenic	SH3BGRL,POU3F4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9728495	-	RECA-EU|1|422|0.00237	-	-	-,integument phenotype	-,X-linked mixed deafness|X-linked deafness|Sensorineural hearing loss  |Mixed hearing loss |Hearing loss, X-linked nonsyndromic|Hearing loss & mental retardation	COSMIC,ICGC,
chr12	75026698	75026698	T	C	intergenic	ATXN7L3B,KCNC2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20982712	-	BRCA-EU|1|569|0.00176	-	-	-,behavior/neurological phenotype	-,Neurodevelopmental delay and ataxia	COSMIC,ICGC,
chr6	29208618	29208618	C	T	intergenic	OR2J2,OR14J1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Altered receptor function,-	ICGC,
chr5	5575570	5575570	G	A	intergenic	ICE1,FLJ33360	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr5	112807905	112807905	C	T	intronic	MCC	unknown	SNV	-	-	-	0.0005	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	normal phenotype	-	ICGC,
chr16	22128491	22128491	G	A	exonic	VWA3A	synonymous	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-	-	ICGC,
chr12	47281394	47281394	A	-	intergenic	SLC38A4,AMIGO2	unknown	deletion	-	-	-	0	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr13	100706728	100706728	G	A	intergenic	LINC00554,PCCA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Propionic acidaemia	ICGC,
chr7	132994302	132994302	G	A	intronic	EXOC4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging	Meckel-Gruber syndrome|Cervical artery dissection|Autism spectrum disorder  	ICGC,
chr19	39329184	39329184	C	-	exonic	HNRNPL	frameshift	deletion	-	-	-	-	-	-	-	-	-	COSM1612199	-	LINC-JP|1|394|0.00254	-	-	mortality/aging	-	COSMIC,COSMIC,ICGC,
chr7	147306249	147306249	T	G	intronic	CNTNAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7656148	-	PACA-CA|1|268|0.00373	-	-	integument phenotype	Gilles de la Tourette syndrome|Intellectual disability  |Learning disability & speech problems|Mental retardation |Mental retardation, Pitt-Hopkins-like|Multiple congenital anomalies  |Seizures, neonatal |Speech delay  |Stuttering |Epileptic encephalopathy  |Epilepsy and schizophrenia|Autism|Autism spectrum disorder |Autism spectrum disorder, modifier of|Childhood apraxia of speech|Cortical dysplasia-focal epilepsy syndrome|Developmental and/or speech and/or behavioural problems|Developmental delay  |Developmental delay & dysmorphic features|Dyslexia 	COSMIC,ICGC,
chr6	767983	767983	G	A	intergenic	EXOC2,LOC101927691	unknown	SNV	-	-	-	0.0042	rs79779858	-	0.00239617	-	-	-	-	PRAD-CN|1|65|0.01538	-	-	-,-	-,-	ICGC,
chr4	14208298	14208298	T	G	intergenic	LINC01085,CPEB2-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24583234	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	COSMIC,ICGC,
chr9	9813291	9813291	G	A	intronic	PTPRD	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Restless legs syndrome, association with|Ewing sarcoma	ICGC,
chr3	97974643	97974643	A	G	intergenic	OR5H15,OR5H6	unknown	SNV	-	-	-	0.4483	rs9829977	-	0.340455	-	0.384	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,Olfactory receptor deficiency 	ICGC,
chr6	63529650	63529650	T	G	intergenic	KHDRBS2,LGSN	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr5	33676816	33676816	-	CCCA	intronic	ADAMTS12	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	cardiovascular system phenotype	-	ICGC,
chr2	92296510	92296510	G	C	intergenic	ACTR3BP2,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|2|186|0.01075	-	-	-,-	-,-	ICGC,
chr4	7328297	7328297	C	G	intronic	SORCS2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16967114	-	PRAD-CA|1|308|0.00325	-	-	-	-	COSMIC,ICGC,
chr5	60121130	60121130	C	T	intronic	ELOVL7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr10	57820507	57820507	C	A	intergenic	MTRNR2L5,ZWINT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr2	124131309	124131309	C	T	intergenic	TSN,CNTNAP5	unknown	SNV	-	-	-	3.234e-05	-	-	-	-	-	COSN4983913	-	-	-	-	hematopoietic system phenotype,-	-,Autism	COSMIC,
chr11	31810451	31810451	C	T	UTR3	PAX6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CN|1|65|0.01538	-	-	integument phenotype	Nystagmus, autosomal dominant, foveal hypoplasia & presenile cataract|Nystagmus with cataract & iris anomalies|Nystagmus|Microphthalmia, late-onset keratitis & iris coloboma / aniridia|Microcornea|Keratitis, autosomal dominant|Ocular anterior segment anomaly|Ocular coloboma|Optic-nerve malformations|Peters' anomaly|Pineal gland, absence of|Ptosis, cataract, iris hypoplasia, corneal opacification and diabetes.|Rieger syndrome|Seizures, hypotonia, microcephaly & developmental disability|WAGR syndrome|Increased promoter activity|Increased fasting insulin, association with|High myopia, association|Aniridia|Aniridia with cataract|Aniridia with unilateral Peters anomaly|Aniridia, atypical|Autism |Bilateral microphthalmia|Bilateral microphthalmia, congenital cataract & glaucoma|Cataract, secondary glaucoma|Cataract, with nystagmus|Ectopia pupillae|Elliptical anterior iris stromal defects |Extreme myopia, increased risk|Foveal hypoplasia|Gillespie syndrome, atypical|High myopia 	ICGC,
chr2	234095295	234095295	T	A	intronic	INPP5D	unknown	SNV	-	-	-	0.0001	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	integument phenotype	-	ICGC,
chr1	102493000	102493000	G	A	intergenic	OLFM3,COL11A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	-,mortality/aging	-,Stickler syndrome, type 2|Stickler syndrome|Robin sequence |Osteoarthritis, early-onset|Marshall syndrome|Marshall / Stickler syndrome|Lumbar disc herniation, association with|Fibrochondrogenesis|Deafness  	ICGC,
chr7	149550509	149550509	G	A	intronic	ZNF862	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22296770	-	BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr10	37019108	37019108	GG	AA	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr4	188552932	188552932	T	C	ncRNA_intronic	LOC100506272	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr5	168239214	168239214	C	T	intronic	SLIT3	unknown	SNV	-	-	-	-	rs531377898	-	0.000199681	-	-	COSN24863185	-	PBCA-DE|1|499|0.00200	-	-	mortality/aging	Schizophrenia  |Major depressive disorder |Autism spectrum disorder	COSMIC,ICGC,
chr4	97957958	97957958	T	G	intergenic	PDHA2,STPG2-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	ICGC,
chr16	1582722	1582722	C	A	intronic	IFT140,TMEM204	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,immune system phenotype	Retinal dystrophy, severe, early-onset.|Mainzer-Saldino syndrome / Jeune syndrome|Mainzer-Saldino syndrome|Jeune asphyxiating thoracic dystrophy,-	ICGC,
chr4	61294967	61294967	C	A	intergenic	NONE,LPHN3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16248866	-	PRAD-CA|1|308|0.00325	-	-	-,behavior/neurological phenotype	-,-	COSMIC,ICGC,
chr8	115915400	115915400	C	A	intergenic	CSMD3,TRPS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	Schizophrenia  |Colorectal cancer ,Tricho-rhino-phalangeal syndrome with supernumerary teeth|Tricho-rhino-phalangeal syndrome III|Tricho-rhino-phalangeal syndrome I|Tricho-rhino-phalangeal syndrome|Infantile scoliosis & developmental delay|Femoral neck width, association with|Ambras syndrome	ICGC,
chr19	41173741	41173741	G	T	exonic	NUMBL	nonsynonymous	SNV	0.001	0.987	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	mortality/aging	Schizophrenia, association with	ICGC,
chr17	11711080	11711080	-	G	exonic	DNAH9	frameshift	insertion	-	-	-	-	-	-	-	-	-	-	STAD|1|395|0.00253,STES|1|395|0.00253	STAD-US|1|289|0.00346	-	-	-	Autism|Colorectal cancer, increased risk, association with|Schizophrenia  	TCGA,ICGC,
chr5	50707785	50707785	T	G	intergenic	ISL1,PELO	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	integument phenotype,mortality/aging	Cardiomyopathy, dilated|Diabetes, type 2|Intellectual and developmental disabilities,-	ICGC,
chr9	23228036	23228036	G	T	intergenic	LINC01239,LOC101929563	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2316356	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr2	80728120	80728120	T	C	intronic	CTNNA2	unknown	SNV	-	-	-	0.2424	rs7576475	-	0.273962	-	0.232	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Schizophrenia	ICGC,
chr19	11763824	11763824	T	G	intergenic	ZNF627,ZNF833P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	Myocardial infarction, association with,-	ICGC,
chr1	49701814	49701814	G	T	intronic	AGBL4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	Autism spectrum disorder, association with	ICGC,
chrX	30130008	30130008	G	A	intergenic	IL1RAPL1,MAGEB2	unknown	SNV	-	-	-	0.1970	rs6631029	-	0.125563	-	0.268	COSN16210189	-	MELA-AU|1|183|0.00546	-	-	nervous system phenotype,-	Mental retardation, X-linked|Mental retardation with dysmorphic features|Mental retardation and autism|Intellectual disability, X-linked with dysmorphism|Intellectual disability, X-linked|Intellectual disability, dysmorphic signs, deafness & behavioural problems|Intellectual disability & behavioural problems|Developmental delay, learning disability & microcephaly|Autism spectrum disorder  |Asperger syndrome,-	COSMIC,ICGC,
chr15	69769635	69769635	T	C	intergenic	RPLP1,LOC145837	unknown	SNV	-	-	-	0.2110	rs34929220	-	0.127796	-	0.109	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr1	29192396	29192396	C	T	intergenic	OPRD1,EPB41	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,hematopoietic system phenotype	Anorexia nervosa, association with|Opioid dependence, association with,Elliptocytosis	ICGC,
chr16	25258366	25258366	C	T	exonic	ZKSCAN2	nonsynonymous	SNV	1.0	1.0	-	-	-	-	-	-	-	COSM3794719	BLCA|1|396|0.00253	BLCA-US|1|133|0.00752	-	-	-	-	COSMIC,TCGA,ICGC,
chr12	41836481	41836481	G	T	intronic	PDZRN4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr11	81655776	81655776	G	A	ncRNA_intronic	LOC101928989	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr3	99694141	99694141	G	A	ncRNA_intronic	MIR548G	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-	-	ICGC,
chr12	124041293	124041293	C	T	intergenic	MIR3908,LOC101927415	unknown	SNV	-	-	-	3.23e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr11	84466590	84466590	C	T	intronic	DLG2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Schizophrenia and epilepsy|Myopathy  |Intellectual disability, autism and epilepsy|Hypochondriasis|Dysmorphic features & speech delay|Developmental delay and dysmorphic features|Developmental delay  	ICGC,
chr21	36970707	36970707	C	T	intergenic	LOC100506403,MIR802	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	98485092	98485092	C	T	intronic	TMEM131	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr13	56696523	56696523	G	A	intergenic	MIR5007,PRR20A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr8	55705557	55705557	A	C	intergenic	RP1,XKR4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|2|301|0.00664	-	-	vision/eye phenotype,-	Retinitis pigmentosa, early-onset|Retinitis pigmentosa, autosomal recessive.|Retinitis pigmentosa, autosomal recessive|Retinitis pigmentosa, autosomal dominant|Retinitis pigmentosa|Potential protein deficiency|Leber congenital amaurosis|Hypertriglyceridaemia, association with|,Glaucoma, primary congenital	ICGC,
chr1	235728802	235728802	T	A	intronic	GNG4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-	-	ICGC,
chr14	56335350	56335350	T	C	intergenic	LINC00520,PELI2	unknown	SNV	-	-	-	0.0388	rs12588231	-	0.0638978	-	0.058	-	-	LAML-KR|1|205|0.00488	-	-	-,-	-,-	ICGC,
chr1	202186620	202186620	C	T	intronic	LGR6	unknown	SNV	-	-	-	-	rs757853757	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	normal phenotype	-	ICGC,
chr12	128556797	128556797	G	A	intergenic	LINC00507,LOC100996679	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr9	77524950	77524950	C	T	intergenic	TRPM6,C9orf40	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,-	Hypomagnesaemia with secondary hypocalcaemia, mental retardation & short stature|Hypomagnesaemia with secondary hypocalcaemia,-	ICGC,
chr4	159409879	159409879	G	A	intergenic	TMEM144,RXFP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|5|183|0.02732	-	-	-,integument phenotype	-,-	ICGC,
chr2	121247380	121247380	G	T	intergenic	LINC01101,GLI2	unknown	SNV	-	-	-	3.231e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Hypopituitarism  |Hypopituitarism & ectopic posterior pituitary lobe|Hypopituitarism and/or post-axial polydactyly|Multiple pituitary hormone deficiency|Reduced transcriptional activity|Schizophrenia|Holoprosencephaly, lobar|Holoprosencephaly-like phenotype|Cleft lip |Craniofacial anomalies |Holoprosencephaly |Holoprosencephaly spectrum phenotype|Holoprosencephaly with anophthalmia, branchial arch anomalies & CNS anomalies|Holoprosencephaly with heminasal aplasia & orbital anomalies	ICGC,
chr12	99049259	99049259	G	A	intronic	APAF1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging	Depression|Major depression|Reduced function 	ICGC,
chr8	114039022	114039022	C	T	intronic	CSMD3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25863714	-	EOPC-DE|1|202|0.00495	-	-	-	Schizophrenia  |Colorectal cancer 	COSMIC,ICGC,
chr2	210893781	210893781	T	C	intronic	KANSL1L	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-	-	ICGC,
chr1	104368898	104368898	T	A	intergenic	AMY1A,LOC100129138	unknown	SNV	-	-	-	0.6137	rs2183977	-	0.605232	-	0.630	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	Obesity, increased risk,-	ICGC,
chr3	58770934	58770934	C	T	intronic	C3orf67	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr11	60222336	60222336	G	A	upstream	MS4A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	hematopoietic system phenotype	CD20 deficiency	ICGC,
chr1	183875536	183875536	C	A	intronic	RGL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-UK|1|141|0.00709	-	-	-	-	ICGC,
chr16	28495457	28495457	G	T	intronic	CLN3	unknown	SNV	-	-	6.719e-05	0.0004	rs370158185	0.0001	0.000199681	0.0002	-	-	-	-	not_specified	-	mortality/aging	Retinitis pigmentosa|Neuronal ceroid lipofuscinosis, juvenile|Cone-rod dystrophy	ClinVar,
chr6	29851844	29851844	T	C	intergenic	HLA-G,HLA-H	unknown	SNV	-	-	-	0.7177	rs9259132	-	0.69389	-	0.601	-	-	ESAD-UK|1|301|0.00332	-	-	hematopoietic system phenotype,-	Oesophageal cancer, increased risk, association with|Perinatal HIV transmission, association with|Plasma levels, association with|Preeclampsia in multigravid pregnancies, association with|Preeclampsia, association with|Preeclampsia, association with.|Recurrent abortions, association with|Recurrent miscarriage, predisposition to|Recurrent spontaneous abortion, association with|Reduced serum HLA-G expression, association with|Severe pre-eclampsia, reduced risk, association with|Systemic lupus erythematosus, association with|Unexplained recurrent spontaneous abortion, association with.|Nasopharyngeal carcinoma, survival, reduced rate, association with|Nasopharyngeal carcinoma, progress, protection against, association with|Altered miRNA targeting, association with|Celiac disease, association with|CMV infection in children, association with|Disease progression in early rheumatoid arthritis, association with.|Enterovirus 71 infection, in children, association with.|Hepatocellular carcinoma, association with.|Hepatocellular carcinoma, reduced risk|HLA-G null allele|HTLV-1 infection risk, association with|Increased mRNA stability, association with|Leprosy, polar form|Miscarriage, association with|Miscarriage, increased risk, association with,-	ICGC,
chr14	48485855	48485855	C	T	intergenic	LINC00648,RPS29	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	116710560	116710560	G	A	intergenic	LOC102467223,LINC00992	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr8	4949513	4949513	A	G	intergenic	CSMD1,LOC100287015	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21463818	-	BRCA-EU|1|569|0.00176	-	-	-,-	Schizophrenia, association with |Hyperinsulinism|Autism|Attention deficit hyperactivity disorder ,-	COSMIC,ICGC,
chr3	7675780	7675780	G	A	intronic	GRM7	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19602508	-	-	-	-	mortality/aging	Schizophrenia, association with  |Autism |Attention deficit hyperactivity disorder	COSMIC,
chr17	50670957	50670957	A	C	intergenic	CA10,C17orf112	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	Schizophrenia,-	ICGC,
chr4	89464014	89464014	A	T	intergenic	PYURF,HERC3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,integument phenotype	-,-	ICGC,
chr12	2314217	2314217	G	A	intronic	CACNA1C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Timothy syndrome|Schizophrenia / bipolar disorder, assoc with |Schizophrenia  |Long QT syndrome.|Long QT syndrome|Early repolarization syndrome|Cardiomyopathy, hypertrophic.|Cardiomyopathy, hypertrophic|Cardiac arrhythmia|Brugada syndrome (shorter-than-normal QT interval)|Autism spectrum disorder	ICGC,
chr13	59255967	59255967	G	A	intergenic	LOC101926897,DIAPH3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Autism  |Auditory neuropathy spectrum disorder|Auditory neuropathy	ICGC,
chr11	18024753	18024753	G	A	intronic	SERGEF	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr16	24259390	24259390	T	G	intergenic	PRKCB,CACNG3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	hematopoietic system phenotype,mortality/aging	Reduced promoter activity,-	ICGC,
chr9	70501774	70501774	C	T	intergenic	CBWD5,CBWD5	unknown	SNV	-	-	-	6.507e-05	-	-	-	-	-	COSN20383340	-	COCA-CN|1|321|0.00312	-	-	-,-	-,-	COSMIC,ICGC,
chr7	70303467	70303467	T	A	intergenic	AUTS2,WBSCR17	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16423335	-	LIRI-JP|1|258|0.00388	-	-	-,-	Speech & language disorder, tonic-clonic movements & pes planus|Myoclonic epilepsy, juvenile |Mental retardation|Intellectual disability, syndromic  |Epilepsy, nonlesional |Developmental delay, intellectual disability, short stature, ptosis & dysmorphism|Developmental delay  |Autism spectrum disorder  |Autism,-	COSMIC,ICGC,
chr10	120384137	120384137	G	A	intergenic	PRLHR,CACUL1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16074597	-	PACA-CA|1|268|0.00373	-	-	integument phenotype,-	Lower blood pressure, association with|Higher blood pressure, association with,-	COSMIC,ICGC,
chr21	19942414	19942414	G	T	ncRNA_intronic	LOC101927797	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	EOPC-DE|1|202|0.00495	-	-	-	-	ICGC,
chr7	148507912	148507912	C	T	intronic	EZH2	unknown	SNV	-	-	-	6.539e-05	rs143113238	-	0.000998403	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Weaver syndrome	ICGC,
chr18	27474009	27474009	A	G	intergenic	CDH2,MIR302F	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22117870	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging,-	Reduced expression|Potential protein deficiency|Alzheimer disease  ,-	COSMIC,ICGC,
chr14	104621023	104621023	G	A	intronic	KIF26A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	mortality/aging	-	ICGC,
chr1	58172361	58172361	C	T	intronic	DAB1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Syndromic cleft lip & palate	ICGC,
chr4	84282653	84282653	C	T	intergenic	HPSE,HELQ	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	-,Upper aerodigestive tract cancer, increased risk|Esophageal squamous cell carcinoma, increased risk|Colorectal cancer 	ICGC,
chr12	70919801	70919801	G	A	intronic	PTPRB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Drug addiction, association with	ICGC,
chr1	160577874	160577874	G	A	intergenic	CD84,SLAMF1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	hematopoietic system phenotype,hematopoietic system phenotype	-,-	ICGC,
chr12	29806875	29806875	T	C	intronic	TMTC1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	-	ICGC,
chr16	767379	767379	C	T	exonic	METRN	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM5385426	-	-	-	-	-	-	COSMIC,
chr1	14025610	14025610	G	T	intergenic	PDPN,PRDM2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,mortality/aging	-,Bone mineral density, association with 	ICGC,
chr14	101436307	101436307	C	T	ncRNA_intronic	SNHG24	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8407367	-	BLCA-CN|1|103|0.00971	-	-	-	-	COSMIC,ICGC,
chr11	112925164	112925164	C	T	intronic	NCAM1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Neural tube defects, risk, association with	ICGC,
chr5	94502290	94502291	TG	-	intronic	MCTP1	unknown	deletion	-	-	-	0.0004	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	-	-	ICGC,
chr5	171144323	171144323	CC	TT	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr14	89451404	89451404	C	T	intergenic	TTC8,FOXN3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Bardet-Biedl syndrome ,-	ICGC,
chr9	119122328	119122328	C	T	intronic	PAPPA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	skeleton phenotype	-	ICGC,
chr4	117194557	117194557	G	T	intergenic	NDST4,MIR1973	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chrX	113976908	113976908	C	A	intronic	HTR2C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	integument phenotype	Tourette syndrome, association with|Tardive dyskinesia, association with|Suicide, association with|Reduced promoter activity|Premature ejaculation, association with|Increased promoter activity, association with|Hallucinations, in Alzheimer disease, association|Greater dopamine release|Alcohol use disorder comorbidity, association with|Anxiety, and Appetite disturbances in females, in Alzheimer disease, association with.|Bipolar affective disorder, association with|BMI, association with|Depression, in Alzheimer disease, association with.|Diabetes, association with	ICGC,
chr4	118496405	118496405	C	A	intergenic	TRAM1L1,NDST3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,-	ICGC,
chr11	64109538	64109538	G	T	exonic	CCDC88B	stopgain	SNV	-	-	-	-	-	-	-	-	-	COSM6622583	-	-	-	-	-	-	COSMIC,
chr17	33716453	33716453	T	C	intergenic	SLFN11,SLFN12	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chrX	33230534	33230534	C	T	intronic	DMD	unknown	SNV	-	-	-	0.0003	rs794726908	-	-	-	-	-	-	-	not_specified	-	mortality/aging	Muscular dystrophy, Duchenne & Charcot-Marie-Tooth disease|Muscular dystrophy, Duchenne & autism|Muscular dystrophy, Duchenne|Muscular dystrophy, Becker.|Muscular dystrophy, Becker with cognitive impairment|Muscular dystrophy, Becker|Muscular dystrophy, Duchenne-like|Muscular dystrophy, Duchenne, epilepsy, macroglossia and mental retardation|Muscular dystrophy, Duchenne.|Muscular dystrophy, Duchenne/Becker|Muscular dystrophy, intermediate|Myopathy  |Potential protein deficiency|Schizophrenia|Muscular dystrophy, atypical|Muscular dystrophy & intellectual disability|Muscular dystrophy|Autism & neuromotor delay|Autism spectrum disorder|Behavioural issues|Cardiomyopathy, dilated|Cardiomyopathy, dilated, X-linked|Cardiomyopathy, dilated.|Dystrophinopathy|Elevated creatine kinase level|Mild Becker muscular dystrophy|Mental retardation, X-linked|Isolated cardiomyopathy|Increased serum creatine kinase levels|Global developmental delay/intellectual disability|Exertional myalgia, muscle stiffness & myoglobinuria	ClinVar,
chr8	51501366	51501366	C	A	intronic	SNTG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	Autism|Intellectual disability, cleft palate, hearing loss and dysmorphisms	ICGC,
chr13	29665164	29665164	T	G	intronic	MTUS2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|2|301|0.00664	-	-	-	-	ICGC,
chr9	27505291	27505291	G	A	intronic	MOB3B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23837696	-	ORCA-IN|1|178|0.00562	-	-	-	-	COSMIC,ICGC,
chr7	109278054	109278054	G	-	intergenic	C7orf66,EIF3IP1	unknown	deletion	-	-	-	0.0003	-	-	-	-	-	COSN23247549	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	COSMIC,ICGC,
chr6	102891471	102891471	-	AT	intergenic	GRIK2,NONE	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325,PBCA-US|2|186|0.01075	-	-	behavior/neurological phenotype,-	Mental retardation, non-syndromic, autosomal recessive,-	ICGC,
chr13	102758118	102758118	T	A	intronic	FGF14	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	Cerebral ataxia, autosomal dominant	ICGC,
chr7	12550640	12550640	T	G	intergenic	VWDE,SCIN	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	ICGC,
chr6	50835540	50835540	A	-	intergenic	TFAP2B,PKHD1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	integument phenotype,mortality/aging	Patent ductus arteriosus|Nonsyndromic patent ductus arteriosus|Neonatal temperament, association with|Increased expression, association with|Female alcoholism, severe, association with|Endocardial cushion defect|Diabetes, type 2, asssociation with|Char syndrome|Cardiac defects,Renal cystic disease and hepatic fibrosis.|Protection against colorectal cancer|Polycystic kidney disease |Caroli disease	ICGC,
chr3	159126053	159126053	C	T	intronic	IQCJ-SCHIP1,SCHIP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,-	ICGC,
chr2	171884824	171884824	A	C	intronic	TLK1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21019707	-	BRCA-EU|1|569|0.00176	-	-	-	Potential protein deficiency|Schizophrenia  	COSMIC,ICGC,
chr18	66793561	66793561	A	G	intergenic	CCDC102B,DOK6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr12	128992379	128992379	G	A	intronic	TMEM132C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr1	237686751	237686751	A	C	intronic	RYR2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Long QT syndrome|Sudden cardiac death|Sudden cardiac death.|Sudden infant death syndrome|Sudden unexplained death  |Ventricular arrhythmia, in chronic heart failure, association with.|Ventricular tachycardia, polymorphic|Left ventricular noncompaction  |Left ventricular non-compaction.|Catecholaminergic polymorphic ventricular tachycardia.|Catecholaminergic polymorphic ventricular tachycardia|Cardiac arrhythmia|Arrhythmogenic right ventricular dysplasia/cardiomyopathy|Arrhythmogenic right ventricular dysplasia type 2|Arrhythmogenic right ventricular cardiomyopathy, association with|Arrhythmogenic right ventricular cardiomyopathy|Altered channel function	ICGC,
chr21	17756621	17756621	T	C	ncRNA_intronic	LINC00478	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7106021	-	PACA-AU|1|391|0.00256	-	-	-	-	COSMIC,ICGC,
chr16	78143321	78143321	T	G	intronic	WWOX	unknown	SNV	-	-	-	0.3063	rs2287973	-	0.358227	-	0.355	-	-	LAML-KR|1|205|0.00488	-	-	mortality/aging	Reduced plasma HDL cholesterol, association with|Non-small-cell lung cancer |Microcephaly syndrome, early lethal|Lung cancer, increased risk, association with|Differentiated thyroid carcinoma, association with|Cerebellar ataxia with epilepsy & mental retardation|Cancer |46,XY disorder of sex development 	ICGC,
chr7	95545469	95545469	G	A	intronic	DYNC1I1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Split hand/foot malformation	ICGC,
chr3	21411785	21411785	C	T	intergenic	LOC101927829,VENTXP7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr11	89109676	89109676	G	A	intronic	NOX4	unknown	SNV	-	-	-	0.0005	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	-	ICGC,
chr5	16766933	16766933	C	T	intronic	MYO10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr6	117099390	117099390	A	C	intergenic	FAM162B,GPRC6A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25606070	-	MALY-DE|1|241|0.00415	-	-	-,integument phenotype	-,Potential protein deficiency|Prostate cancer, reduced risk, association with	COSMIC,ICGC,
chr1	234102156	234102156	G	A	intronic	SLC35F3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr12	91218572	91218572	G	C	intergenic	LINC00936,LINC00615	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr14	34746416	34746416	G	A	intergenic	EGLN3,SPTSSA	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24965098	-	LICA-FR|1|252|0.00397	-	-	integument phenotype,-	-,-	COSMIC,ICGC,
chr10	52886842	52886842	C	T	intronic	PRKG1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8711106	-	OV-AU|1|93|0.01075	-	-	mortality/aging	Thoracic aortic aneurysms and dissections	COSMIC,ICGC,
chr4	162151676	162151676	C	T	intergenic	RAPGEF2,FSTL5	unknown	SNV	-	-	-	0.0022	rs143713028	-	0.000998403	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	integument phenotype,-	-,Schizophrenia  |Rolandic epilepsy 	ICGC,
chr2	179638821	179638821	G	A	exonic	TTN	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM3573870	SKCM|1|368|0.00272	SKCM-US|1|335|0.00299,MELA-AU|1|183|0.00546	-	-	mortality/aging	Muscular dystrophy, limb girdle 2J|Myopathy|Myopathy with cellular aggregates|Potential protein deficiency|Tibial muscular dystrophy|Titinopathy|Muscular dystrophy  |Limb girdle muscular dystrophy 2J|Arrhythmogenic right ventricular cardiomyopathy|Arthrogryposis multiplex congenita with axoglial defects|Cardiac dysrhythmia|Cardiomyopathy, dilated|Cardiomyopathy, hypertrophic|Centronuclear myopathy	COSMIC,COSMIC,COSMIC,COSMIC,COSMIC,COSMIC,TCGA,ICGC,
chr17	52303034	52303034	G	A	intergenic	KIF2B,TOM1L1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr12	113312250	113312250	C	G	intronic	RPH3A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8695184	-	OV-AU|1|93|0.01075	-	-	normal phenotype	-	COSMIC,ICGC,
chr12	85648387	85648387	C	T	intergenic	LRRIQ1,ALX1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Microphthalmia with facial clefting|Mental retardation, language delay & microcephaly |Autism spectrum disorder	ICGC,
chr11	37258581	37258581	C	T	intergenic	C11orf74,LOC103312105	unknown	SNV	-	-	-	0.0037	rs111273472	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr1	199426936	199426936	T	A	intergenic	LINC01222,NR5A2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,-	ICGC,
chr2	160192704	160192704	A	G	intronic	BAZ2B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	-	ICGC,
chr1	16443561	16443561	G	A	intergenic	FAM131C,EPHA2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,vision/eye phenotype	-,Cataracts|Paediatric cataract|Schizophrenia  	ICGC,
chr2	205445393	205445393	C	A	intronic	PARD3B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-	AIDS progression, protection, association with	ICGC,
chr13	57884322	57884322	G	T	intergenic	PRR20A,PCDH17	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr3	119275379	119275379	T	A	intronic	CD80	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN135557	-	-	-	-	hematopoietic system phenotype	-	COSMIC,
chr14	96278239	96278239	G	A	intergenic	TCL1A,TUNAR	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20283908	-	LUSC-KR|1|170|0.00588	-	-	reproductive system phenotype,-	-,-	COSMIC,ICGC,
chr14	53782426	53782426	C	A	intergenic	LOC101927620,MIR5580	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20589924	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chrX	57605885	57605885	G	A	intergenic	FAAH2,ZXDB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Intellectual disability, X-linked|Autism spectrum disorder,-	ICGC,
chr17	2265667	2265667	C	T	intronic	SGSM2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Increased fasting proinsulin concentration, association with|Schizophrenia	ICGC,
chr9	131711524	131711524	T	C	splicing	NUP188	splicing	SNV	-	-	-	-	-	-	-	-	-	COSM6731480	-	-	-	-	-	-	COSMIC,
chr8	14475011	14475011	A	C	intronic	SGCZ	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23074823	-	MALY-DE|1|241|0.00415	-	-	-	Cervical artery dissection	COSMIC,ICGC,
chr6	87454800	87454800	C	G	intergenic	SNHG5,HTR1E	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr11	7173585	7173585	A	C	intergenic	RBMXL2,SYT9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	NKTL-SG|1|50|0.02000	-	-	-,-	Impaired spermatogenesis ,-	ICGC,
chr7	133390889	133390889	G	A	intronic	EXOC4	unknown	SNV	-	-	-	3.229e-05	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging	Meckel-Gruber syndrome|Cervical artery dissection|Autism spectrum disorder  	ICGC,
chr15	83743297	83743297	T	G	intergenic	MIR4515,TM6SF1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	240016748	240016748	C	T	exonic	HDAC4	synonymous	SNV	-	-	4.111e-06	-	-	-	-	-	-	COSM720952	LUSC|1|178|0.00562	LUSC-US|1|194|0.00515	-	-	integument phenotype	Anorexia nervosa/bulimia nervosa|Autism spectrum disorder|Brachydactyly mental retardation syndrome|Brachydactyly mental retardation syndrome & hyperoxaluria, type 1	COSMIC,COSMIC,TCGA,ICGC,
chr4	131759528	131759528	G	A	intergenic	LOC101927282,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chrX	37038076	37038076	G	A	intergenic	FAM47C,FTH1P18	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2356088	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr5	62225827	62225827	A	T	intergenic	IPO11,HTR1A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,mortality/aging	-,Tourette syndrome |Reduced expression|Personality disorders, association with.|Menstrual cycle-dependent fever|Major depression and suicide, association with|Major depression|Impulsive behaviour, association with|Epileptic seizures |Comorbid depression and generalized anxiety, association with|Attenuated agonist-mediated receptor down-regulation and desensitization	ICGC,
chr2	216504301	216504304	GGGT	-	ncRNA_intronic	LINC00607	unknown	deletion	-	-	-	0.0119	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	-	-	ICGC,
chr17	62004757	62004757	-	TAAATAAA	intergenic	GH1,CD79B	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|2|67|0.02985	-	-	reproductive system phenotype,hematopoietic system phenotype	Hypertension |Lung cancer, susceptibility to, association with|Reduced expression|Reduced transcriptional activity|Short stature|Stroke |Growth hormone deficiency, isolated, association with|Growth hormone deficiency 2|Growth hormone deficiency 1B|Growth hormone deficiency 1A|Growth hormone deficiency|Diabetes mellitus, type 1|Colorectal neoplasia, reduced risk, association with|Altered promoter activity|Altered gene expression,Agammaglobulinaemia|Immunodeficiency	ICGC,
chr1	245800184	245800184	-	GGGTGTGTGT	intronic	KIF26B	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	mortality/aging	-	ICGC,
chr1	1328168	1328168	A	G	exonic	CCNL2	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM3687044	-	COAD-US|1|254|0.00394	-	-	-	-	COSMIC,ICGC,
chr10	74398152	74398152	C	T	intergenic	MICU1,MCU	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Proximal myopathy and learning difficulties,-	ICGC,
chr12	62589115	62589115	-	A	intergenic	FAM19A2,USP15	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,-	-,Autism	ICGC,
chr2	116663019	116663019	G	T	intergenic	DPP10,DDX18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	Autism spectrum disorder,-	ICGC,
chr8	108656951	108656951	T	A	intergenic	ANGPT1,RSPO2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,integument phenotype	Stroke, reduced risk, association with,Pancreatic cancer 	ICGC,
chr19	31742988	31742988	A	G	intergenic	ZNF536,TSHZ3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,integument phenotype	Schizophrenia,-	ICGC,
chr3	164860881	164860881	T	C	intergenic	SI,SLITRK3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25680207	-	MALY-DE|1|241|0.00415	-	-	-,-	Sucrase isomaltase deficiency,-	COSMIC,ICGC,
chr19	7924095	7924095	-	A	intronic	EVI5L	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	Schizophrenia	ICGC,
chr2	146648402	146648402	T	G	intergenic	TEX41,PABPC1P2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	109460511	109460511	T	A	intronic	GPSM2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	cellular phenotype	Chudley-McCullough syndrome|Hearing loss, non-syndromic|Hearing loss.	ICGC,
chr7	64563796	64563796	C	G	intergenic	CCT6P3,LOC441242	unknown	SNV	-	-	-	0.0085	rs13235990	-	-	-	0.022	COSN6888639	-	COCA-CN|1|321|0.00312,LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,COSMIC,ICGC,
chr17	29605783	29605783	C	T	intronic	NF1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	integument phenotype	Neurofibromatosis-Noonan syndrome.|Neurofibromatosis-Noonan syndrome|Neurofibromatosis without cutaneous neurofibromas|Neurofibromatosis 1.|Neurofibromatosis 1 with ocular anomalies|Neurofibromatosis, spinal|Noonan syndrome|Noonan syndrome & neurofibromatosis 1|Phaeochromocytoma|Phaeochromocytoma.|Pilocytic astrocytoma|Plexiform neurofibromas |Neurofibromatosis 1 optic pathway gliomas|Neurofibromatosis 1|Neurofibromatosis  |Astrocytoma, pilocytic|Autism|Bilateral polymicrogyria in NF1|Cafe-au-lait patches|Chronic myelogenous leukaemia, juvenile |Congenital heart disease |Developmental delay, autism, epilepsy & dysmorphic features|Myelomonocytic leukaemia, juvenile|Multiple spinal ganglioneuromas|Mental retardation, association with|Glomus tumours in neurofibromatosis 1|Glioma	ICGC,
chr8	65796171	65796171	G	T	intergenic	CYP7B1,LINC00251	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN4881915	-	MALY-DE|1|241|0.00415	-	-	integument phenotype,-	Spastic paraplegia 5a.|Spastic paraplegia 5a|Spastic paraplegia 5 with sensory ataxia|Spastic paraplegia 5|Spastic paraplegia|Increased transcriptional activity|HIV 1 infection, reduced risk, association with|Cholestasis, severe,-	COSMIC,ICGC,
chr5	130312078	130312078	C	T	intergenic	CHSY3,HINT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-,cellular phenotype	-,Axonal neuropathy with neuromyotonia	ICGC,
chr6	77168299	77168299	G	A	intergenic	IMPG1,HTR1B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,skeleton phenotype	Macular dystrophy, vitelliform,Suicidal ideation, in major depression, association with|Receptor variant|Alcohol dependence, association with|Alcohol and drug abuse, association with|Aggressive behaviour, association with	ICGC,
chr2	116406475	116406475	G	T	intronic	DPP10	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26170606	-	PRAD-UK|1|140|0.00714	-	-	-	Autism spectrum disorder	COSMIC,ICGC,
chr9	128185834	128185834	T	C	intergenic	GAPVD1,MAPKAP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,mortality/aging	-,Breast cancer, non-BRCA1/BRCA2 related	ICGC,
chr9	107054287	107054287	G	A	intergenic	SMC2,OR13F1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	7752986	7752986	C	T	intronic	ADCY2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-	-	ICGC,
chr6	163468139	163468139	C	T	ncRNA_intronic	LOC101929239	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	-	ICGC,
chr17	61842858	61842858	G	A	intronic	CCDC47	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	mortality/aging	Schizophrenia	ICGC,
chr3	95739605	95739605	C	T	intergenic	MTHFD2P1,MIR8060	unknown	SNV	-	-	-	-	rs368249075	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr6	47716366	47716366	C	T	intergenic	GPR115,OPN5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	-,-	ICGC,
chr11	21614342	21614342	A	G	intergenic	NELL1,ANO5	unknown	SNV	-	-	-	4.887e-05	rs201080108	-	-	-	-	COSN18857952	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,-	Crohn disease, association with,Persistent asymptomatic hyperCKemia|Myopathy of posterior calf muscles, late-onset|Myopathy / muscular dystrophy|Myopathy  |Muscular dystrophy, limb girdle 2L.|Muscular dystrophy, limb girdle 2L|Muscular dystrophy  |Miyoshi-like distal myopathy|Miyoshi myopathy, non-dysferlin|Miyoshi distal myopathy.|Miyoshi distal myopathy|Gnathodiaphyseal dysplasia|Autism 	COSMIC,ICGC,
chr5	93650093	93650093	G	A	intronic	KIAA0825	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-AU|1|391|0.00256	-	-	-	-	ICGC,
chr2	126018498	126018498	G	A	intergenic	CNTNAP5,GYPC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Autism,Glycophorin C variant|Gerbich-negative blood group|Elliptocytosis|Duch blood group	ICGC,
chr19	5171132	5171132	G	A	intergenic	KDM4B,PTPRS	unknown	SNV	-	-	-	-	rs370982879	-	0.000399361	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	integument phenotype,integument phenotype	-,-	ICGC,
chr14	25722861	25722866	GTGGCG	-	intergenic	STXBP6,NOVA1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	NKTL-SG|1|50|0.02000	-	-	-,mortality/aging	-,-	ICGC,
chr5	120681770	120681770	A	G	intergenic	LOC102467226,FTMT	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16340012	-	LIRI-JP|1|258|0.00388	-	-	-,normal phenotype	-,Macular degeneration, age related	COSMIC,ICGC,
chr3	113375611	113375611	T	A	exonic	KIAA2018	nonsynonymous	SNV	0.325	0.001	-	-	-	-	-	-	-	COSM4112338	STAD|1|395|0.00253,STES|1|395|0.00253	STAD-US|1|289|0.00346	-	-	-	Schizophrenia	COSMIC,TCGA,ICGC,
chr10	117998406	117998427	TTTGCAATTTCCCTAAAGTGAG	-	intronic	GFRA1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype	Urinary tract malformation|Hirschsprung disease |Central hypoventilation syndrome 	ICGC,
chr2	50514185	50514185	C	G	intronic	NRXN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging	Hypotonia|Hypotonia & encephalopathy|Increased white matter volume, association with|Intellectual disability  |Intellectual disability & attention deficit hyperactivity disorder|Intellectual disability & hearing loss|Intellectual disability & pervasive developmental disorder|Intellectual disability and autism|Intellectual disability, nonsyndromic |Intellectual disability, seizures, dysmorphisms & language delay|Growth retardation  |Epilepsy, myoclonic seizures & speech delay|Developmental disorder|Developmental disorder & attention deficit hyperactivity disorder|Developmental disorder, seizures & attention deficit hyperactivity disorder|Developmental/intellectual disability, hypotonia & dysmorphic features|Disorder of muscle, ligament & fascia|Encephalopathy  |Epilepsy  |Epilepsy with cognitive impairment / autism spectrum disorder|Epilepsy with focal seizures|Epilepsy, generalised |Intellectual disability, seizures, language delay & hypotonia|Language delay|Learning difficulties|Respiratory distress & sepsis|Respiratory distress syndrome|Schizophrenia |Schizophrenia, childhood onset |Schizophrenia, disorganised type|Seizures, generalized tonic-clonic & attention deficit hyperactivity disorder|Sensory integration disorder & attention deficit hyperactivity disorder|Speech delay & social communication difficulties|Tourette syndrome|Pervasive developmental disorder / hypotonia|Pervasive developmental disorder|Pervasive developmental delay / mental retardation, lack of coordination & hearing loss|Learning difficulties, ADHD & autism|Mental retardation|Mental retardation, autism, vertebral malformations|Mental retardation, Pitt-Hopkins-like|Microcephaly & mental retardation|Multiple congenital anomalies  |Multiple disabilities|Myoclonic epilepsy   |Neurodevelopmental disorder  |Vertebral anomalies|Developmental delay, speech delay & social communication difficulties|Attention deficit hyperactivity disorder |Autism spectrum disorder, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability & language delay|Autism spectrum disorder, intellectual disability, dysmorphisms, developmental delay & language delay|Autism spectrum disorder, intellectual disability, seizures & developmental delay|Autism spectrum disorder, intellectual disability, seizures, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability, seizures, dysmorphisms & language delay|Autism spectrum disorder, seizures, developmental delay & language delay|Autism, intellectual disability & attention deficit hyperactivity disorder|Autistic disorder|Autism spectrum disorder with developmental & speech delay|Autism spectrum disorder & seizures|Autism spectrum disorder & language delay|Autism |Autism & learning difficulties|Autism & mental retardation|Autism & seizures|Autism spectrum disorder|Autism spectrum disorder & attention deficit hyperactivity disorder|Autism spectrum disorder & developmental delay|Autism spectrum disorder & dysmorphic features|Autism spectrum disorder & intellectual disability|Behavioural problems|Congenital heart defect  |Craniofacial dysmorphism|Developmental delay & speech/motor delay|Developmental delay with early-onset epilepsy|Developmental delay, dysmorphic features & short stature|Developmental delay, epilepsy, autism|Developmental delay, language delay & hypotonia|Developmental delay, learning difficulties, ADHD|Developmental delay, microcephaly & behavioural problems|Developmental delay, pulmonic stenosis & autism spectrum disorder|Developmental delay, short stature and diaphragmatic hernia|Developmental delay, speech delay & microcephaly|Developmental delay & seizures|Developmental delay & seizure disorder|Cystic hygroma, hydrops & micrognathia|Cystic hygroma, shortened upper limbs & fetal demise|Developmental & speech delay|Developmental delay|Developmental delay / autism|Developmental delay & autism|Developmental delay & dysmorphic features|Developmental delay & epilepsy|Developmental delay & hypotonia|Developmental delay & multiple congenital anomalies	ICGC,
chr1	99534633	99534633	C	T	ncRNA_intronic	LOC100129620	unknown	SNV	-	-	-	0.4987	rs11166166	-	0.465256	-	0.413	COSN6474898	-	-	-	-	-	-	COSMIC,
chr18	2045958	2045958	G	T	intergenic	LINC00470,METTL4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	ICGC,
chr4	140105968	140105968	G	T	intergenic	ELF2,MGARP	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25751876	-	EOPC-DE|1|202|0.00495	-	-	-,-	-,-	COSMIC,ICGC,
chr5	177551830	177551830	C	G	UTR3	N4BP3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	CLLE-ES|1|510|0.00196	-	-	-	-	ICGC,
chr11	37886436	37886436	C	T	intergenic	C11orf74,LOC103312105	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr3	22098931	22098931	G	A	intergenic	ZNF385D-AS2,UBE2E2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr19	31555368	31555368	T	C	intergenic	ZNF536,TSHZ3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5436904	-	LIRI-JP|1|258|0.00388	-	-	-,integument phenotype	Schizophrenia,-	COSMIC,ICGC,
chr2	124842810	124842810	T	C	intronic	CNTNAP5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8266682	-	GACA-CN|1|123|0.00813,PACA-CA|1|268|0.00373	-	-	-	Autism	COSMIC,ICGC,
chr21	22881256	22881256	T	A	exonic	NCAM2	nonsynonymous	SNV	0.0	0.989	-	-	-	-	-	-	-	COSM4705794	-	-	-	-	taste/olfaction phenotype	-	COSMIC,
chr15	70032363	70032363	G	A	intergenic	LOC145837,LINC00593	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr16	23610840	23610840	T	C	intergenic	NDUFAB1,PALB2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,mortality/aging	-,VACTERL with Fanconi anaemia|Triple-negative breast cancer|reast and/or ovarian cancer.|Prostate cancer  |Peritoneal carcinoma|Pancreatic cancer|Ovarian carcinoma|Ovarian cancer|Neuroblastoma|Multiple cancers|Breast and/or ovarian cancer|Breast and/or pancreatic cancer |Breast cancer |Breast cancer, increased risk |Breast cancer, male|Breast cancer.|Fanconi anaemia, N type	ICGC,
chr2	80722647	80722647	A	G	intronic	CTNNA2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging	Schizophrenia	ICGC,
chr5	165140181	165140181	T	G	intergenic	LOC102546299,CTB-7E3.1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	-,-	-,-	ICGC,
chr1	38770683	38770683	C	G	intergenic	LINC01343,RRAGC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr14	66683784	66683784	T	A	intergenic	FUT8,LINC00238	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27991398	-	PRAD-CA|1|308|0.00325	-	-	mortality/aging,-	Pulmonary emphysema, association with,-	COSMIC,ICGC,
chr10	84591706	84591706	T	A	intronic	NRG3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7071679	-	PACA-AU|1|391|0.00256	-	-	integument phenotype	Schizophrenia, association with |Increased ventrolateral PFC activation|Hirschsprung disease  	COSMIC,ICGC,
chr4	104572671	104572671	C	T	intronic	TACR3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	Kallmann syndrome|Hypogonadotropic hypogonadism	ICGC,
chr9	139418289	139418289	C	A	exonic	NOTCH1	nonsynonymous	SNV	0.001	0.998	-	-	-	-	-	-	-	-	HNSC|1|512|0.00195	-	-	-	integument phenotype	Tetralogy of Fallot |Hypoplastic left heart syndrome|Calcified aortic valve with ascending aortic aneurysm|Bicuspid aortic valve |Aortic valve stenosis, tricuspid, calcific.|Aortic valve stenosis, tricuspid, calcific|Aortic valve disease|Aortic coarctation	TCGA,
chr4	67577666	67577666	A	G	intergenic	EPHA5-AS1,LOC101927237	unknown	SNV	-	-	-	0.0041	-	-	-	-	-	COSN23892210	-	LAML-KR|2|205|0.00976,NKTL-SG|1|50|0.02000,LUSC-KR|2|170|0.01176	-	-	-,-	-,-	COSMIC,COSMIC,ICGC,
chr11	81554883	81554883	G	A	intergenic	LOC101928944,LOC101928989	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	RECA-EU|1|422|0.00237	-	-	-,-	-,-	ICGC,
chr9	81358903	81358903	C	T	intergenic	PSAT1,LOC101927450	unknown	SNV	-	-	-	3.231e-05	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Schizophrenia |Phosphoserine aminotransferase deficiency,-	ICGC,
chr10	48477110	48477110	G	A	intergenic	GDF10,PTPN20B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	normal phenotype,-	-,-	ICGC,
chr15	63226645	63226645	G	A	intergenic	TLN2,TPM1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,mortality/aging	-,Potential protein deficiency|Cardiomyopathy, restrictive|Cardiomyopathy, non-compaction, left ventricular|Cardiomyopathy, left-ventricular noncompaction|Cardiomyopathy, hypertrophic|Cardiomyopathy, dilated non-compaction|Cardiomyopathy, dilated	ICGC,
chr11	113952775	113952775	A	-	intronic	ZBTB16	unknown	deletion	-	-	-	-	-	-	-	-	-	COSN23801453	-	ORCA-IN|1|178|0.00562	-	-	hematopoietic system phenotype	Skeletal defects and genital hypoplasia	COSMIC,ICGC,
chr7	62110631	62110631	C	T	intergenic	NONE,ZNF733P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	179995497	179995497	T	G	intergenic	PEX5L,TTC14	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17716962	-	ESAD-UK|1|301|0.00332	-	-	behavior/neurological phenotype,-	-,-	COSMIC,ICGC,
chr3	80325424	80325424	C	T	intergenic	ROBO1,GBE1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,mortality/aging	Developmental dyslexia ,Potential protein deficiency|Polyglucosan body disease, relapsing-remitting form|Polyglucosan body disease, adult|Lethal multiple pterygium syndrome|Glycogen storage disease 4, non-lethal neuromuscular|Glycogen storage disease 4, neonatal|Glycogen storage disease 4|Autism spectrum disorder|Adult polyglucosan body disease	ICGC,
chr10	55671967	55671967	C	T	intronic	PCDH15	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	vision/eye phenotype	Usher syndrome II|Usher syndrome 1f|Usher syndrome 1|Lipid levels in hyperlipidaemia, association with|Hearing loss, non-syndromic|Deafness, non-syndromic, autosomal recessive|Deafness, non-syndromic |Deafness  	ICGC,
chr3	163349759	163349759	A	T	intergenic	LINC01192,SI	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7830978	-	PACA-AU|1|391|0.00256	-	-	-,-	-,Sucrase isomaltase deficiency	COSMIC,ICGC,
chr6	21397862	21397862	G	A	intergenic	CDKAL1,LINC00581	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	cellular phenotype,-	Hyperinsulism,-	ICGC,
chr14	69878332	69878332	C	T	intronic	SLC39A9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr20	43252941	43252941	T	C	exonic	ADA	nonsynonymous	SNV	0.179	0.026	4.061e-05	3.233e-05	rs371134570	6.597e-05	-	7.7e-05	-	-	-	-	not_specified	-	mortality/aging	Inherited metabolic disease |Increased sleep depth and reduced vigilant attention, association with.|Immunodeficiency, severe combined, atypical|Immunodeficiency, severe combined|Immunodeficiency, primary  |Deep sleep, duration and intensity, association with|Coronary artery disease, protection against, association with.|Autism, association with.|Adenosine deaminase deficiency & combined immune deficiency |Adenosine deaminase deficiency / severe combined immunodeficiency|Adenosine deaminase deficiency	ClinVar,
chr7	145206587	145206587	T	G	intergenic	TPK1,CNTNAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	Thiamine pyrophosphokinase deficiency|Leigh-like disease|Colorectal cancer, increased risk, association with |Autism,Gilles de la Tourette syndrome|Intellectual disability  |Learning disability & speech problems|Mental retardation |Mental retardation, Pitt-Hopkins-like|Multiple congenital anomalies  |Seizures, neonatal |Speech delay  |Stuttering |Epileptic encephalopathy  |Epilepsy and schizophrenia|Autism|Autism spectrum disorder |Autism spectrum disorder, modifier of|Childhood apraxia of speech|Cortical dysplasia-focal epilepsy syndrome|Developmental and/or speech and/or behavioural problems|Developmental delay  |Developmental delay & dysmorphic features|Dyslexia 	ICGC,
chr2	144188751	144188751	A	C	intronic	ARHGAP15	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	hematopoietic system phenotype	-	ICGC,
chr4	56559000	56559000	G	A	intergenic	NMU,LOC644145	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	immune system phenotype,-	Obesity, childhood onset |Obesity, association with,-	ICGC,
chr14	30839205	30839205	A	C	intergenic	PRKD1,G2E3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,mortality/aging	Autism spectrum disorder|Mental retardation and microcephaly|Obesity ,-	ICGC,
chr6	130299771	130299771	G	A	intergenic	TMEM244,L3MBTL3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,mortality/aging	-,-	ICGC,
chr2	153703723	153703723	C	T	intergenic	ARL6IP6,RPRM	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24598696	-	GACA-CN|1|123|0.00813	-	-	-,-	Autism spectrum disorder|Bardet-Biedl like features,-	COSMIC,ICGC,
chrX	74802793	74802793	G	A	intergenic	ZDHHC15,TTC3P1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	embryogenesis phenotype,-	Mental retardation, X-linked,-	ICGC,
chr2	18176238	18176238	G	A	intergenic	KCNS3,NT5C1B-RDH14	unknown	SNV	-	-	-	0	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Airway hyperresponsiveness, association with ,-	ICGC,
chr11	27907629	27907629	G	A	intergenic	BDNF,KIF18A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype,-	Parkinson disease, association with|Obsessive-compulsive disorder, association with|Obesity, in WAGR|Obesity and neurobehavioural problems |Mood disorder, association with|Major depressive disorder, remission in older subjects|Major depressive disorder, in men, association with|Major depressive disorder, association with|Lower bone mineral density, association with|Lithium response in bipolar disorder, association with|Poor visuospatial/constructional performance, association with|Psychiatric disorders |Psychotic feature and suicidal behavior in major depression, association with|Visual sensory memory processes, association with |Spontaneous dyskinesia, in non-clinical psychosis, association with.|Severe asthma, association with|Rett syndrome disease modifier|Regular smoking, increased risk, association with|Reduced promoter activity|Reduced parahippocampal and amygdala volume, association with|Reduced hippocampal volumes, association with|Reduced grey matter content in brain structures, association with|Reduced BDNF protein levels in amniotic fluid, association with|Later age of onset of OCD in females, association|Increased BDNF serum concentration, association with|Hyperphagia and severe obesity|Autism, association with|Autism spectrum disorder|Attention deficit hyperactivity disorder, association with.|Anxiety-related personality traits, association with|Anxiety-related behavior, association with|Alzheimer's disease-related depression, association with|Alzheimer disease, sporadic late onset, association with|Alzheimer disease, association with|Alzheimer disease-related depression, association with|Alzheimer disease in APOE4 non-carriers, association|Bipolar disorder, association with|Bipolar disorder, susceptibility, association with|Blood pressure, association with|Geriatric depression, association with.|Epilepsy in Rett syndrome, earlier age of onset, association with|Endometriosis, stage III-IV, association with.|Depression, in Alzheimer disease, association with.|Depression, association with|Cognitive and motor function effects on chronic mercury exposure, association with|Childhood-onset mood disorder / EEG asymmetry|Central hypoventilation syndrome |Bulimia, association with|BMI in women, association with,Adult height, association with|Schizophrenia	ICGC,
chr22	22524468	22524471	TAAA	-	intergenic	TOP3B,VPREB1	unknown	deletion	-	-	-	0	rs782611154	-	-	-	-	-	-	LMS-FR|3|67|0.04478	-	-	integument phenotype,hematopoietic system phenotype	Short stature|Schizophrenia / cognitive impairment, association with|Mild mental retardation and generalised overgrowth,Rheumatoid arthritis, reduced risk, association with	ICGC,
chr1	228004514	228004514	G	A	intronic	PRSS38	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Schizophrenia	ICGC,
chr1	107064717	107064717	T	A	intergenic	NONE,PRMT6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	ICGC,
chr6	93912625	93912625	C	G	intergenic	CASC6,EPHA7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,nervous system phenotype	-,Development delay and dysmorphic features|Leukemia, risk, association with 	ICGC,
chr15	49501142	49501142	A	G	intronic	GALK2	unknown	SNV	-	-	-	0.0578	rs113140401	-	0.0788738	-	0.036	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr7	53291731	53291731	G	A	intergenic	POM121L12,LINC01446	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr12	34416527	34416527	G	C	intergenic	ALG10,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	ICGC,
chr3	2155573	2155573	C	T	ncRNA_intronic	CNTN4-AS2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr2	41801581	41801581	A	G	intergenic	SLC8A1,LOC388942	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	Colorectal cancer, increased risk, association with |Schizophrenia  ,-	ICGC,
chr1	233771034	233771034	G	A	intronic	KCNK1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	homeostasis/metabolism phenotype	-	ICGC,
chr3	114563398	114563398	-	AAAAAAA	intronic	ZBTB20	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	mortality/aging	Autism spectrum disorder|Hypotonia and language and motor delays	ICGC,
chr19	935480	935480	G	C	intronic	ARID3A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN14445968	-	PACA-AU|1|391|0.00256	-	-	integument phenotype	-	COSMIC,ICGC,
chrX	91554749	91554749	A	G	intronic	PCDH11X	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22004291	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	-	Absent speech, intellectual disability & behavioural problems|Attention deficit hyperactivity disorder & obsessive compulsive disorder|Developmental dyslexia |Language delay, nonsyndromic 	COSMIC,COSMIC,ICGC,
chr8	76820726	76820726	C	T	intergenic	HNF4G,LINC01111	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26785236	-	PRAD-FR|1|25|0.04000	-	-	respiratory system phenotype,-	-,-	COSMIC,ICGC,
chr2	185767264	185767264	G	A	intronic	ZNF804A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	EOPC-DE|1|202|0.00495,MELA-AU|1|183|0.00546	-	-	-	Neurodevelopmental disease|Reduced cortical gray matter thickness|Schizophrenia and bipolar disorder, association with|Schizophrenia, association with  	ICGC,
chr6	28973853	28973853	T	C	upstream	ZNF311	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	Autism	ICGC,
chr3	62103756	62103756	A	G	intronic	PTPRG	unknown	SNV	-	-	-	0.6175	rs17066105	-	0.562899	-	0.543	-	-	LAML-KR|1|205|0.00488	-	-	integument phenotype	Schizophrenia	ICGC,
chr8	128962364	128962364	C	T	ncRNA_intronic	PVT1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21778851	-	BRCA-EU|1|569|0.00176	-	-	no phenotypic analysis	Prostate cancer risk, association with	COSMIC,ICGC,
chrX	111438281	111438281	G	A	intronic	ZCCHC16	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Autism spectrum disorder	ICGC,
chr8	37880241	37880241	C	T	intergenic	ADRB3,EIF4EBP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,cellular phenotype	Hyperuricaemia, association with|Hyperuricemia, increased risk, association with|Idiopathic overactive bladder, association with|Metabolic syndrome in males, association with|Metabolic syndrome, in males, association with|Hypertensive cardiovascular disease, association with|Hyperinsulinaemia, association with|Higher body fat percentage, association with|Gout, increased risk, association with|Elite endurance performance, association with|Diabetes, type 2, increased risk|Decreased fat oxidation during rest and aerobic exercise, association with|Body mass index gain, with age, association with.,-	ICGC,
chr16	28918160	28918160	A	G	intronic	RABEP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr1	150470569	150470569	A	-	intronic	TARS2	unknown	deletion	-	-	-	0.0305	-	-	-	-	-	-	-	LICA-CN|2|402|0.00498	-	-	-	-	ICGC,
chr16	70488438	70488438	-	A	upstream	FUK	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN15500531	-	-	-	-	-	-	COSMIC,
chrX	93723073	93723073	C	T	intergenic	FAM133A,LOC643486	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	15291908	15291908	-	ATGTGT	intergenic	CPEB2,C1QTNF7	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr11	103438347	103438347	A	G	intergenic	DYNC2H1,MIR4693	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	mortality/aging,-	Short rib-polydactyly syndrome, type 3|Short rib-polydactyly syndrome, Majewski type|Short rib-polydactyly syndrome|Asphyxiating thoracic dystrophy,-	ICGC,
chr6	96738169	96738169	T	C	intergenic	FUT9,UFL1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2186830	-	LIRI-JP|1|258|0.00388	-	-	normal phenotype,mortality/aging	-,Schizophrenia	COSMIC,ICGC,
chr7	52432443	52432443	G	A	intergenic	COBL,POM121L12	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	nervous system phenotype,-	-,-	ICGC,
chr4	62060733	62060733	G	T	intergenic	NONE,LPHN3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5062409	-	LINC-JP|1|394|0.00254	-	-	-,behavior/neurological phenotype	-,-	COSMIC,ICGC,
chr15	37677175	37677175	T	A	intergenic	MEIS2,TMCO5A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	Cleft palate & cardiac septum ,-	ICGC,
chr20	41790177	41790177	A	C	intronic	PTPRT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	homeostasis/metabolism phenotype	Intellectual disability, behavioural problems, microcephaly & cardiac defect|Attention deficit hyperactivity disorder 	ICGC,
chr5	33044930	33044930	G	A	intergenic	LOC340113,TARS	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	ICGC,
chr18	59380588	59380588	C	T	intergenic	CDH20,LOC100996669	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,-	-,-	ICGC,
chr12	92303096	92303096	T	A	intergenic	DCN,C12orf79	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8123916	-	PACA-CA|1|268|0.00373	-	-	integument phenotype,-	Renal disease, slower progress in diabetes, association with|Congenital stromal dystrophy,-	COSMIC,COSMIC,ICGC,
chr14	23857479	23857479	G	T	exonic	MYH6	stopgain	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	mortality/aging	Sick sinus syndrome, increased risk, association with|Potential protein deficiency|Congenital heart defects|Cardiomyopathy, hypertrophic|Cardiomyopathy, dilated |Cardiac dysrhythmia|Atrial septal defect|Atrial fibrillation	ICGC,
chr21	33371416	33371416	G	T	exonic	HUNK	nonsynonymous	SNV	0.086	0.001	-	-	-	-	-	-	-	-	ESCA|1|185|0.00541	-	-	-	normal phenotype	-	TCGA,
chr4	159396951	159396951	C	T	intergenic	TMEM144,RXFP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,integument phenotype	-,-	ICGC,
chr22	50796266	50796266	G	A	intronic	PPP6R2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-	-	ICGC,
chr4	189633362	189633362	C	T	intergenic	LINC01060,LINC01262	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr19	6172595	6172595	A	G	intronic	ACSBG2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	other phenotype	-	ICGC,
chr7	151615931	151615931	G	C	intergenic	PRKAG2-AS1,GALNTL5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19060177	-	CLLE-ES|1|510|0.00196	-	-	-,-	-,Autism, non-complex|Asthenozoospermia 	COSMIC,ICGC,
chr12	14231215	14231215	G	T	intergenic	GRIN2B,ATF7IP	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	mortality/aging,-	Mental retardation, behavioural anomalies & abnormal EEG|Potential protein deficiency|Schizophrenia, association with|Schizophrenia, association with.|West syndrome|Mental retardation with behavioural anomalies|Intellectual disability  |Huntington disease, earlier onset in females, association with|Focal epilepsy & intellectual disability|Autism spectrum disorder|Autism|Alzheimer disease, increased risk, association with,-	ICGC,
chr6	84275562	84275562	A	G	intronic	SNAP91	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr18	63944774	63944774	A	C	intergenic	CDH7,CDH19	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,Tetralogy of Fallot	ICGC,
chr16	13028017	13028017	T	C	intronic	SHISA9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr16	17131509	17131509	C	T	intergenic	NPIPA7,XYLT1	unknown	SNV	-	-	-	0.4835	rs9923448	-	0.448882	-	0.428	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,Decreased serum glycosaminoglycan levels, association with|Desbuquois dysplasia type 2|Diabetes, type 1, protection, association |Diabetic nephropathy protection |Increased serum XT1 activity in pseudoxanthoma elasticum, association|Short stature & intellectual disability	ICGC,
chr5	117676351	117676351	C	T	intergenic	LOC100505811,LOC101927280	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26041106	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr8	96242655	96242655	C	A	intergenic	C8orf69,C8orf37	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,Cone-rod dystrophy|Retinitis pigmentosa	ICGC,
chr2	178944808	178944808	C	T	intronic	PDE11A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	Testicular germ cell tumour, association with|Prostate cancer, susceptibility to |Altered enzyme activity|Adrenocortical tumours|Adrenocortical hyperplasia|Adrenocortical adenoma.|Adrenocortical adenoma|ACTH-independent macronodular adrenocortical hyperplasia|ACTH-independent macronodular adrenal hyperplasia	ICGC,
chrX	143155751	143155751	C	T	intergenic	UBE2NL,SPANXN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|2|183|0.01093	-	-	-,-	Potential protein deficiency,-	ICGC,
chr18	32764188	32764188	C	T	intergenic	MAPRE2,ZNF397	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	161633563	161633563	G	A	intergenic	OTOL1,LINC01192	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr1	18748706	18748706	C	T	intergenic	IGSF21,KLHDC7A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr9	116150474	116150474	G	A	UTR3	ALAD	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	Porphyria, acute intermittent|Lead accumulation, association with|Amyotrophic lateral sclerosis, increased risk, association with|ALAD deficiency	ICGC,
chr8	113563048	113563048	C	G	exonic	CSMD3	nonsynonymous	SNV	0.001	1.0	-	-	-	-	-	-	-	COSM4947376	OV|1|469|0.00213	OV-US|1|118|0.00847	-	-	-	Schizophrenia  |Colorectal cancer 	COSMIC,COSMIC,TCGA,ICGC,
chr2	64476336	64476336	T	C	ncRNA_intronic	LOC100507006	unknown	SNV	-	-	-	0.2812	rs2698523	-	0.380591	-	0.391	-	-	LAML-KR|1|205|0.00488	-	-	-	-	ICGC,
chr22	17368933	17368933	C	A	intergenic	HSFY1P1,GAB4	unknown	SNV	-	-	-	0.0057	-	-	-	-	-	COSN14657873	-	LAML-KR|1|205|0.00488,PAEN-AU|2|52|0.03846,PBCA-US|2|186|0.01075	-	-	-,-	-,Potential protein deficiency	COSMIC,COSMIC,ICGC,
chr4	66011509	66011509	G	T	intergenic	LOC401134,EPHA5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,nervous system phenotype	-,Mental retardation|Dravet syndrome  |Attention deficit hyperactivity disorder & learning disabilities|Alzheimer disease  	ICGC,
chr7	8271786	8271786	C	T	intronic	ICA1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	-	ICGC,
chr3	95088579	95088579	A	T	intergenic	LINC00879,MTHFD2P1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr20	23690998	23690998	C	T	intergenic	CST4,CST1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	ICGC,
chr18	31369430	31369430	G	A	intergenic	ASXL3,NOL4	unknown	SNV	-	-	-	0.0001	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	Bohring-Opitz like syndrome|Developmental delay, microcephaly, and craniofacial anomalies|Potential protein deficiency,-	ICGC,
chr3	87172694	87172694	G	A	ncRNA_intronic	LINC00506	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-	-	ICGC,
chr15	24427346	24427346	A	T	intergenic	PWRN2,PWRN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr1	46905160	46905160	C	T	ncRNA_intronic	FAAHP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr3	197004644	197004644	C	T	intronic	DLG1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN4816034	-	MALY-DE|1|241|0.00415	-	-	mortality/aging	Schizophrenia|Mental retardation & facial dysmorphism	COSMIC,ICGC,
chr5	140480848	140480848	G	A	exonic	PCDHB3	synonymous	SNV	-	-	1.219e-05	3.229e-05	rs575727677	2.479e-05	0.000199681	-	-	COSM6102442	LUAD|1|543|0.00184	-	-	-	-	-	COSMIC,TCGA,
chr8	132554063	132554063	C	T	intergenic	ADCY8,EFR3A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Myocardial infarction  ,Autism|Potential protein deficiency	ICGC,
chr7	126559684	126559684	G	T	intronic	GRM8	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2200305	-	LIRI-JP|1|258|0.00388	-	-	behavior/neurological phenotype	Attention deficit hyperactivity disorder|Autism spectrum disorder  	COSMIC,ICGC,
chr4	15962464	15962464	C	T	intronic	FGFBP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr4	130514769	130514769	G	A	intergenic	C4orf33,LOC101927282	unknown	SNV	-	-	-	0.1301	rs148103155	-	0.106629	-	0.087	-	-	ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488	-	-	-,-	-,-	ICGC,
chr4	17289563	17289563	T	G	intergenic	LDB2,QDPR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	normal phenotype,skeleton phenotype	-,Dihydropteridine reductase deficiency|Phenylketonuria	ICGC,
chr2	51347688	51347688	T	C	intergenic	NRXN1,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	Hypotonia|Hypotonia & encephalopathy|Increased white matter volume, association with|Intellectual disability  |Intellectual disability & attention deficit hyperactivity disorder|Intellectual disability & hearing loss|Intellectual disability & pervasive developmental disorder|Intellectual disability and autism|Intellectual disability, nonsyndromic |Intellectual disability, seizures, dysmorphisms & language delay|Growth retardation  |Epilepsy, myoclonic seizures & speech delay|Developmental disorder|Developmental disorder & attention deficit hyperactivity disorder|Developmental disorder, seizures & attention deficit hyperactivity disorder|Developmental/intellectual disability, hypotonia & dysmorphic features|Disorder of muscle, ligament & fascia|Encephalopathy  |Epilepsy  |Epilepsy with cognitive impairment / autism spectrum disorder|Epilepsy with focal seizures|Epilepsy, generalised |Intellectual disability, seizures, language delay & hypotonia|Language delay|Learning difficulties|Respiratory distress & sepsis|Respiratory distress syndrome|Schizophrenia |Schizophrenia, childhood onset |Schizophrenia, disorganised type|Seizures, generalized tonic-clonic & attention deficit hyperactivity disorder|Sensory integration disorder & attention deficit hyperactivity disorder|Speech delay & social communication difficulties|Tourette syndrome|Pervasive developmental disorder / hypotonia|Pervasive developmental disorder|Pervasive developmental delay / mental retardation, lack of coordination & hearing loss|Learning difficulties, ADHD & autism|Mental retardation|Mental retardation, autism, vertebral malformations|Mental retardation, Pitt-Hopkins-like|Microcephaly & mental retardation|Multiple congenital anomalies  |Multiple disabilities|Myoclonic epilepsy   |Neurodevelopmental disorder  |Vertebral anomalies|Developmental delay, speech delay & social communication difficulties|Attention deficit hyperactivity disorder |Autism spectrum disorder, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability & language delay|Autism spectrum disorder, intellectual disability, dysmorphisms, developmental delay & language delay|Autism spectrum disorder, intellectual disability, seizures & developmental delay|Autism spectrum disorder, intellectual disability, seizures, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability, seizures, dysmorphisms & language delay|Autism spectrum disorder, seizures, developmental delay & language delay|Autism, intellectual disability & attention deficit hyperactivity disorder|Autistic disorder|Autism spectrum disorder with developmental & speech delay|Autism spectrum disorder & seizures|Autism spectrum disorder & language delay|Autism |Autism & learning difficulties|Autism & mental retardation|Autism & seizures|Autism spectrum disorder|Autism spectrum disorder & attention deficit hyperactivity disorder|Autism spectrum disorder & developmental delay|Autism spectrum disorder & dysmorphic features|Autism spectrum disorder & intellectual disability|Behavioural problems|Congenital heart defect  |Craniofacial dysmorphism|Developmental delay & speech/motor delay|Developmental delay with early-onset epilepsy|Developmental delay, dysmorphic features & short stature|Developmental delay, epilepsy, autism|Developmental delay, language delay & hypotonia|Developmental delay, learning difficulties, ADHD|Developmental delay, microcephaly & behavioural problems|Developmental delay, pulmonic stenosis & autism spectrum disorder|Developmental delay, short stature and diaphragmatic hernia|Developmental delay, speech delay & microcephaly|Developmental delay & seizures|Developmental delay & seizure disorder|Cystic hygroma, hydrops & micrognathia|Cystic hygroma, shortened upper limbs & fetal demise|Developmental & speech delay|Developmental delay|Developmental delay / autism|Developmental delay & autism|Developmental delay & dysmorphic features|Developmental delay & epilepsy|Developmental delay & hypotonia|Developmental delay & multiple congenital anomalies,-	ICGC,
chr12	20495082	20495082	A	G	intergenic	LOC100506393,PDE3A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,reproductive system phenotype	-,-	ICGC,
chrX	78010878	78010878	T	C	exonic	LPAR4	nonsynonymous	SNV	0.081	0.116	-	-	-	-	-	-	-	COSM4918002	LIHC|1|373|0.00268	LIHC-US|1|189|0.00529	-	-	integument phenotype	-	COSMIC,TCGA,ICGC,
chr2	123492622	123492622	C	T	intergenic	TSN,CNTNAP5	unknown	SNV	-	-	-	0.0135	rs78199972	-	0.0173722	-	0.029	-	-	LAML-KR|1|205|0.00488	-	-	hematopoietic system phenotype,-	-,Autism	ICGC,
chr13	87297850	87297850	C	A	intergenic	SLITRK6,MIR4500HG	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16348745	-	LIRI-JP|1|258|0.00388	-	-	behavior/neurological phenotype,-	High myopia and sensorineural deafness,-	COSMIC,ICGC,
chr7	54489937	54489937	T	A	intergenic	LINC01445,VSTM2A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr7	48511343	48511343	T	C	intronic	ABCA13	unknown	SNV	-	-	-	0.1874	rs10251517	-	0.230831	-	0.196	-	-	LUSC-KR|1|170|0.00588	-	-	-	Schizophrenia / depression|Schizophrenia / bipolar disorder / depression |Schizophrenia  |Bipolar disorder  |Autism|Anorectal malformation	ICGC,
chr5	156020512	156020512	A	T	intronic	SGCD	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	mortality/aging	Muscular dystrophy, limb girdle 2F|Muscular dystrophy, limb girdle 2 |Muscular dystrophy, limb girdle|Cardiomyopathy, dilated|Anorectal malformation	ICGC,
chr16	21151694	21151694	G	A	intronic	DNAH3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr1	223968642	223968642	G	A	intronic	TP53BP2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN18187319	-	-	-	-	mortality/aging	-	COSMIC,
chr14	83294829	83294829	C	A	intergenic	LOC101928559,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1662104	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr10	7670710	7670710	A	C	intronic	ITIH5	unknown	SNV	-	-	-	0.0005	rs376108933	-	-	-	-	COSN27336495	-	BTCA-SG|1|71|0.01408	-	-	-	-	COSMIC,ICGC,
chr2	83043500	83043500	G	C	intergenic	LOC100507201,LOC1720	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr19	16418469	16418469	G	A	intergenic	AP1M1,KLF2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging,mortality/aging	-,-	ICGC,
chr15	43894497	43894497	G	A	ncRNA_intronic	RNU6-28P	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23028094	-	PACA-CA|1|268|0.00373	-	-	-	-	COSMIC,ICGC,
chr17	31261542	31261542	G	T	intronic	TMEM98	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	mortality/aging	-	ICGC,
chr12	119602085	119602085	G	T	intergenic	SRRM4,HSPB8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,mortality/aging	-,Charcot-Marie-Tooth disease 2L|Neuropathy, distal hereditary motor, type II|Potential protein deficiency	ICGC,
chr4	43111040	43111040	G	A	intergenic	GRXCR1,KCTD8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|2|183|0.01093	-	-	behavior/neurological phenotype,-	Hearing impairment, nonsyndromic, autosomal recessive,-	ICGC,
chr12	26052469	26052469	C	T	intergenic	MIR4302,RASSF8-AS1	unknown	SNV	-	-	-	0.0001	-	-	-	-	-	COSN7324642	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	COSMIC,ICGC,
chr9	1069052	1069052	-	GCT	intergenic	DMRT2,SMARCA2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	mortality/aging,integument phenotype	-,Short stature|Schizophrenia, association with   |Nicholaides-Baraitser syndrome|Multiple congenital anomalies  |Lung cancer, association with|Intellectual disabilty, short stature and dysmorphisms|Hepatocellular carcinoma, in smokers, association with.|Hepatocellular carcinoma, association with.|Developmental delay & dysmorphic features|Developmental delay & autistic features|Developmental delay  |Coffin-Siris syndrome	ICGC,
chr4	94207364	94207364	C	G	intronic	GRID2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24142657	-	BRCA-FR|1|72|0.01389	-	-	mortality/aging	Cerebellar ataxia & tonic upgaze|Cerebellar ataxia and atrophy|Schizophrenia|Spastic paraplegia, complicated	COSMIC,ICGC,
chr4	62156421	62156421	G	A	intergenic	NONE,LPHN3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,behavior/neurological phenotype	-,-	ICGC,
chr3	79533640	79533640	G	T	intronic	ROBO1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging	Developmental dyslexia 	ICGC,
chr13	20990191	20990191	T	C	intronic	CRYL1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15081441	-	ESAD-UK|1|301|0.00332	-	-	-	Intellectual disability, short stature and hearing loss	COSMIC,ICGC,
chr7	12632970	12632970	G	C	intronic	SCIN	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-	-	ICGC,
chr3	15480273	15480273	C	T	intronic	EAF1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr19	37900364	37900364	-	T	intergenic	ZNF527,ZNF569	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	ICGC,
chr12	44207485	44207485	A	T	intergenic	TWF1,TMEM117	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype,-	-,-	ICGC,
chr9	15340596	15340596	C	T	intergenic	TTC39B,SNAPC3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr4	68456482	68456482	-	TTTT	intronic	STAP1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|2|67|0.02985	-	-	-	-	ICGC,
chr20	58852990	58852990	C	T	ncRNA_intronic	MIR646HG	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16681896	-	PACA-CA|1|268|0.00373	-	-	-	-	COSMIC,ICGC,
chr1	209478047	209478047	-	GTTGT	intergenic	PLXNA2,MIR205HG	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	vision/eye phenotype,-	Tetralogy of Fallot,-	ICGC,
chr14	20689435	20689435	T	-	intergenic	OR11G2,OR11H6	unknown	deletion	-	-	-	0.0808	rs201263184	-	0.0415335	-	-	COSN27072106	-	ESAD-UK|1|301|0.00332,PACA-CA|1|268|0.00373	-	-	-,-	-,-	COSMIC,ICGC,
chr4	146138578	146138578	G	A	intergenic	OTUD4,SMAD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,mortality/aging	Autism spectrum disorder|Hypogonadotropic hypogonadism, ataxia & dementia,Pulmonary arterial hypertension	ICGC,
chr3	71528530	71528530	G	A	intronic	FOXP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Speech delay, contractures, hypertonia & blepharophimosis|Mental retardation, speech and language deficits|Intellectual disability & autism|Intellectual disability|Delayed speech/motor development & Chiari I malformation|Congenital heart defects|Childhood apraxia of speech|Autism, speech delay and deficit of motor coordination|Autism spectrum disorder  	ICGC,
chr14	87301817	87301817	G	A	intergenic	LOC101928767,LOC283585	unknown	SNV	-	-	-	-	rs4435185	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chrX	48371826	48371826	G	A	intronic	PORCN	unknown	SNV	-	-	-	0.0811	rs112197195	-	0.095894	-	0.065	-	-	LAML-KR|1|205|0.00488	-	-	integument phenotype	Focal dermal hypoplasia with mammary hypoplasia & cleft hand|Focal dermal hypoplasia|Angioma serpiginosum	ICGC,
chr6	103045110	103045110	GG	AA	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chrX	138760597	138760597	A	G	intronic	MCF2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2345249	-	LIRI-JP|1|258|0.00388	-	-	reproductive system phenotype	Autism spectrum disorder	COSMIC,COSMIC,ICGC,
chr19	29899111	29899111	C	A	ncRNA_intronic	LOC284395	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15214749	-	ESAD-UK|1|301|0.00332	-	-	-	-	COSMIC,ICGC,
chr9	99559007	99559007	G	A	intergenic	ZNF510,ZNF782	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15930193	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	COSMIC,ICGC,
chr10	18693992	18693992	G	C	intronic	CACNB2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	mortality/aging	Schizophrenia  |Rapid ventricular tachycardia & intraventricular conduction delay|Early repolarization syndrome|Cardiac arrhythmia|Brugada syndrome (shorter-than-normal QT interval)|Brugada syndrome|Aortic regurgutation|Altered function|Ventricular fibrillation, idiopathic	ICGC,
chr5	18831743	18831743	G	A	intergenic	LOC401177,CDH18	unknown	SNV	-	-	-	6.471e-05	rs368589634	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Anorectal malformation	ICGC,
chr7	137933111	137933111	G	A	intergenic	MIR4468,TRIM24	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,cellular phenotype	-,-	ICGC,
chr17	54554920	54554920	C	A	exonic	ANKFN1	synonymous	SNV	-	-	-	-	-	-	-	-	-	-	PAAD|1|185|0.00541	-	-	-	-	-	TCGA,
chr4	182507250	182507250	G	A	intergenic	LINC00290,MGC45800	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr9	74248819	74248819	G	A	intergenic	TRPM3,TMEM2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Schizophrenia  |Mental retardation,Hepatitis B, chronic, association with	ICGC,
chr16	49243558	49243558	C	T	intergenic	N4BP1,CBLN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	no phenotypic analysis,behavior/neurological phenotype	-,-	ICGC,
chr12	16593267	16593267	C	T	intergenic	MGST1,LMO3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493,MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,-	ICGC,
chr11	115614623	115614623	G	A	intergenic	CADM1,LINC00900	unknown	SNV	-	-	-	3.232e-05	rs538621834	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	hematopoietic system phenotype,-	Autism spectrum disorder,-	ICGC,
chr5	103327000	103327000	C	T	intergenic	NUDT12,RAB9BP1	unknown	SNV	-	-	-	6.461e-05	rs554499103	-	0.000199681	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chrX	38385391	38385391	C	T	intergenic	OTC,TSPAN7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Alzheimer disease, association with|Hyperammonaemia|Ornithine transcarbamylase deficiency|Ornithine transcarbamylase deficiency & chronic granulomatous disease,Rolandic epilepsy |Oligozoospermia|Mental retardation, X-linked|Intellectual disability, nonsyndromic X-linked	ICGC,
chr5	90814148	90814148	G	A	intergenic	ARRDC3-AS1,NR2F1-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	ICGC,
chr3	16957837	16957837	T	G	intronic	PLCL2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	hematopoietic system phenotype	-	ICGC,
chr14	80486696	80486696	A	C	intergenic	NRXN3,DIO2	unknown	SNV	-	-	-	9.714e-05	-	-	-	-	-	COSN4759154	-	MALY-DE|1|241|0.00415	-	-	mortality/aging,digestive/alimentary phenotype	Alcohol dependence, association with|Autism spectrum disorder  ,Symptomatic osteoarthritis, susceptibility to|Reduced serum thyroxine|Insulin resistance, association with|Insulin resistance in type 2 diabetes, association with|Hypertension, increased risk|Graves' disease, association with.|Diabetes, type 2, association with|Diabetes mellitus, type 2, early-onset, association with.|Delayed triiodothyronine secretion, association with|Altered hypothalamus-pituitary-thyroid axis set point, association with|Acute lung injury, sepsis-associated, protection against	COSMIC,ICGC,
chr8	25650671	25650671	G	T	intergenic	CDCA2,EBF2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,mortality/aging	-,-	ICGC,
chr15	47067019	47067019	C	T	intergenic	SQRDL,SEMA6D	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21485175	-	BRCA-EU|1|569|0.00176	-	-	-,immune system phenotype	-,Developmental language disorder 	COSMIC,ICGC,
chr13	83580114	83580114	A	G	intergenic	NONE,SLITRK1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,mortality/aging	-,Trichotillomania|Tourette syndrome|Obsessive-compulsive disorder |Attention deficit hyperactivity disorder 	ICGC,
chr11	57659268	57659268	C	T	intergenic	TMX2-CTNND1,OR9Q1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	104895003	104895003	T	A	intergenic	LOC100129138,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9359227	-	RECA-EU|1|422|0.00237	-	-	-,-	-,-	COSMIC,ICGC,
chr1	179436511	179436511	C	T	intronic	AXDND1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr4	1753661	1753661	G	T	intergenic	TACC3,FGFR3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16687676	-	PACA-CA|1|268|0.00373	-	-	mortality/aging,integument phenotype	-,Muenke syndrome|Muencke syndrome with cleft lip and palate.|Lacrimo-auriculo-dento-digital syndrome|Keratinocytic epidermal naevus syndrome|Hypochondroplasia and acanthosis nigricans|Muenke syndrome with multiple osteochondromas|Muenke syndrome.|Phenotypic variability in identical twins|SADDAN syndrome|Skeletal dysplasia|Thanatophoric dwarfism|Thanatophoric dysplasia|Thanatophoric dysplasia.|Hypochondroplasia|Epidermal nevi syndrome with oral mucosa involvement|Acanthosis nigricans|Acanthosis nigricans, hypochondroplasia and hyperinsulinaemia|Achondroplasia|Achondroplasia / thanatophoric dysplasia overlap|Achondroplasia with developmental delay & acanthosis nigricans|Achondroplasia with multiple-suture craniosynostosis|Brachycephaly, nonsyndromic|Camptodactyly, tall stature and hearing loss syndrome|Cleft lip and palate|Craniosynostosis|Crouzon syndrome|Crouzon syndrome with acanthosis nigricans|Crouzon syndrome.	COSMIC,ICGC,
chr8	94581506	94581506	C	T	ncRNA_intronic	LINC00535	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr4	46498793	46498793	A	G	intergenic	GABRA2,COX7B2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	integument phenotype,-	-,-	ICGC,
chr14	33349502	33349502	-	CT	intergenic	AKAP6,NPAS3	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	mortality/aging,mortality/aging	-,Mental illness|Schizophrenia	ICGC,
chrX	50178857	50178857	C	T	intronic	DGKK	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr4	53898880	53898880	G	T	intronic	SCFD2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	UTCA-FR|1|20|0.05000	-	-	-	-	ICGC,
chr18	70697284	70697284	C	T	intergenic	NETO1,LOC400655	unknown	SNV	-	-	-	3.267e-05	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	behavior/neurological phenotype,-	-,-	ICGC,
chr5	144686880	144686880	C	T	intergenic	KCTD16,PRELID2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr8	104341955	104341955	A	G	exonic	FZD6	synonymous	SNV	-	-	-	-	-	-	-	-	-	-	HNSC|1|512|0.00195	-	-	-	integument phenotype	Neural tube defects|Nail dystrophy|Isolated nail dysplasia	TCGA,
chr8	33894408	33894408	A	G	intergenic	DUSP26,UNC5D	unknown	SNV	-	-	-	0	-	-	-	-	-	-	-	PBCA-US|3|186|0.01613	-	-	-,-	-,-	ICGC,
chr7	118114491	118114491	G	T	intergenic	ANKRD7,KCND2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7651815	-	PACA-CA|1|268|0.00373	-	-	-,integument phenotype	-,Epilepsy, temporal lobe	COSMIC,ICGC,
chr8	131563464	131563464	A	G	intergenic	ASAP1,ADCY8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	Schizophrenia,Myocardial infarction  	ICGC,
chr12	68847429	68847429	G	T	intergenic	LOC100507195,RAP1B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,mortality/aging	-,-	ICGC,
chr9	112600999	112600999	C	A	intronic	PALM2,PALM2-AKAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr13	31272687	31272687	C	T	intergenic	USPL1,ALOX5AP	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,skeleton phenotype	-,Atherosclerosis, association with|Intracerebral haemorrhage, association with|Ischaemic stroke, association with 	ICGC,
chr2	219729115	219729115	C	A	intronic	WNT6	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5497460	-	LIRI-JP|1|258|0.00388	-	-	normal phenotype	-	COSMIC,ICGC,
chr3	49463818	49463818	C	A	exonic	NICN1	nonsynonymous	SNV	0.006	0.02	-	-	-	-	-	-	-	-	PAAD|1|185|0.00541	-	-	-	-	-	TCGA,
chr6	31754430	31754430	G	A	intronic	VARS	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	-	-	ICGC,
chr5	125471535	125471535	A	T	intergenic	LOC101927460,LOC102546228	unknown	SNV	-	-	-	0.0003	rs201231506	-	0.000399361	-	-	COSN21611467	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr7	54594314	54594314	G	A	intergenic	LINC01445,VSTM2A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332,MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr11	5841791	5841791	T	A	exonic	OR52N2	nonsynonymous	SNV	1.0	0.318	-	-	-	-	-	-	-	COSM6133529	LUAD|2|543|0.00368	-	-	-	-	-	COSMIC,TCGA,
chr4	163648964	163648964	G	T	intergenic	FSTL5,NAF1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23207150	-	MALY-DE|1|241|0.00415	-	-	-,-	Schizophrenia  |Rolandic epilepsy ,-	COSMIC,ICGC,
chr17	45065996	45065996	G	A	intergenic	RPRML,ARL17A	unknown	SNV	-	-	-	-	rs568398319	-	0.000199681	-	-	-	-	PRAD-UK|1|140|0.00714	-	-	-,-	-,-	ICGC,
chr11	39286785	39286785	C	T	intergenic	LOC101928536,LRRC4C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	86628622	86628622	G	A	intergenic	RNU6-69P,VGLL3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	NKTL-SG|1|50|0.02000	-	-	-,-	-,-	ICGC,
chr3	10851177	10851177	A	T	intergenic	LINC00606,SLC6A11	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,Antiepileptic drug pharmacoresistance, association with 	ICGC,
chr16	59895378	59895378	G	C	ncRNA_intronic	LOC101927580	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr1	176615632	176615632	T	A	intronic	PAPPA2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype	-	ICGC,
chr17	9395636	9395636	T	A	intronic	STX8	unknown	SNV	-	-	-	0.7406	rs2125347	-	0.71885	-	0.551	-	-	LAML-KR|1|205|0.00488	-	-	-	-	ICGC,
chr8	76911342	76911342	G	T	intergenic	HNF4G,LINC01111	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	respiratory system phenotype,-	-,-	ICGC,
chr1	78600431	78600431	G	A	intronic	GIPC2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|3|183|0.01639	-	-	-	-	ICGC,
chr12	33302101	33302101	C	T	intergenic	PKP2,SYT10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,behavior/neurological phenotype	Sudden cardiac death  |Potential protein deficiency|Cardiomyopathy, dilated|Cardiomyopathy, arrhythmogenic, left-dominant|Cardiomyopathy, arrhythmogenic right ventricular|Brugada syndrome    |Arrhythmogenic right ventricular dysplasia/cardiomyopathy.|Arrhythmogenic right ventricular dysplasia/cardiomyopathy|Arrhythmogenic right ventricular dysplasia|Arrhythmogenic right ventricular cardiomyopathy.|Arrhythmogenic right ventricular cardiomyopathy, asymptomatic|Arrhythmogenic right ventricular cardiomyopathy|Sudden unexpected death with negative autopsy,-	ICGC,
chr1	190309492	190309492	C	A	intronic	BRINP3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-	-	ICGC,
chr4	157661800	157661800	G	A	intergenic	CTSO,PDGFC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,integument phenotype	-,Ovarian cancer, poor survival, association with|Cleft lip with or without cleft palate, association|Bilateral cleft lip & thumb polydactyly	ICGC,
chr10	135404063	135404063	C	A	intergenic	SPRNP1,FRG2B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25180627	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	COSMIC,ICGC,
chr2	215984210	215984210	G	C	intronic	ABCA12	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Ichthyosis, lamellar, type 2|Ichthyosis, harlequin|Ichthyosis, congenital, autosomal recessive|Ichthyosis|Ichthyosiform erythroderma, congenital, nonbullous|Ichthyosiform erythroderma, congenital|Autism	ICGC,
chr2	108422339	108422339	C	T	intergenic	ST6GAL2,RGPD4-AS1	unknown	SNV	-	-	-	0.0029	rs139385539	-	0.00219649	-	0.007	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	125677213	125677213	G	T	intergenic	CNTNAP5,GYPC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	-,-	Autism,Glycophorin C variant|Gerbich-negative blood group|Elliptocytosis|Duch blood group	ICGC,
chr11	131352378	131352378	C	T	intronic	NTM	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26526734	-	LICA-CN|1|402|0.00249	-	-	-	Aortic aneurysm, thoracic & intracranial|Potential protein deficiency	COSMIC,ICGC,
chr13	20730609	20730609	C	T	intronic	GJA3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	vision/eye phenotype	Nuclear punctate cataract|Coralliform cataract|Congenital cataract, Coppock-like|Congenital cataract|Cataract, zonular pulverulent|Cataract, nuclear pulverulent & posterior polar|Cataract, congenital  |Cataract 	ICGC,
chr13	107371535	107371535	C	T	intergenic	LINC00443,FAM155A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5189242	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr3	63144609	63144609	-	GTGTGC	intergenic	LINC00698,SYNPR	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,no phenotypic analysis	-,-	ICGC,
chr2	219320353	219320353	G	A	exonic	USP37	synonymous	SNV	-	-	2.031e-05	-	rs762286951	8.241e-06	-	-	-	COSM4739814	-	-	-	-	-	-	COSMIC,
chr1	79157655	79157655	G	A	intergenic	IFI44,ELTD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,normal phenotype	-,-	ICGC,
chr1	152347347	152347347	C	T	intergenic	FLG-AS1,CRNN	unknown	SNV	-	-	-	7.235e-05	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr18	26677633	26677633	A	G	intergenic	CDH2,MIR302F	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,-	Reduced expression|Potential protein deficiency|Alzheimer disease  ,-	ICGC,
chr7	116790081	116790081	C	G	intronic	ST7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	-	-	ICGC,
chr6	117448051	117448051	C	A	intergenic	RFX6,VGLL2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	Diabetes, neonatal, with intestinal atresia|Prostate cancer, susceptibility to ,-	ICGC,
chr9	86002884	86002884	G	C	intronic	FRMD3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25983069	-	ESAD-UK|1|301|0.00332	-	-	-	-	COSMIC,ICGC,
chr10	50447596	50447596	GG	AA	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr10	38936819	38936819	G	A	intergenic	LINC00999,ACTR3BP5	unknown	SNV	-	-	-	9.688e-05	rs377028808	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr20	36983800	36983800	G	A	exonic	LBP	synonymous	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	immune system phenotype	Sepsis, reduced survival, association with.|Sepsis, in males, association with|Sepsis and multiple organ dysfunction in major trauma, association with|Reduced binding capacity for LPS and lipopeptides	ICGC,
chr10	133600951	133600951	A	T	intergenic	TCERG1L,LINC01164	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN10062832	-	RECA-EU|1|422|0.00237	-	-	-,-	-,-	COSMIC,ICGC,
chr8	105686697	105686697	G	T	intergenic	LRP12,ZFPM2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16237606	-	PRAD-CA|1|308|0.00325	-	-	-,integument phenotype	-,Atrial septal defect & gonadal dysgenesis|Diaphragmatic hernia, congenital|Double outlet right ventricle |Gonadal dysgenesis |Reduced activity|Tetralogy of Fallot 	COSMIC,ICGC,
chr4	175865832	175865832	C	T	intronic	ADAM29	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr11	132452741	132452741	-	TTG	intronic	OPCML	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	no phenotypic analysis	Autism spectrum disorder  	ICGC,
chr12	46242699	46242699	G	T	exonic	ARID2	nonsynonymous	SNV	0.0	0.719	-	-	-	-	-	-	-	-	-	LICA-CN|2|402|0.00498	-	-	mortality/aging	Schizophrenia	ICGC,
chr6	93616677	93616677	T	G	intergenic	CASC6,EPHA7	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21956831	-	BRCA-EU|1|569|0.00176	-	-	-,nervous system phenotype	-,Development delay and dysmorphic features|Leukemia, risk, association with 	COSMIC,ICGC,
chr22	39884682	39884682	G	A	exonic	MGAT3	nonsynonymous	SNV	0.058	1.0	-	-	-	-	-	-	-	COSM6204942	-	MALY-DE|1|241|0.00415	-	-	cellular phenotype	-	COSMIC,ICGC,
chr1	20666924	20666924	C	T	intronic	VWA5B1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr12	130179331	130179331	C	G	intronic	TMEM132D	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2469539	-	-	-	-	-	Panic disorder  	COSMIC,
chr6	12192482	12192482	A	G	intergenic	HIVEP1,EDN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,mortality/aging	Schizophrenia  ,Variant angina, association with|Orthostatic intolerance protection|Obstructive sleep apnea|Not associated with hypertension or orthostatic hypotension|Isolated question-mark ears|Hypertension |Higher endothelin-1 levels, association with|Higher blood pressure in overweight people, association|Elevated mRNA levels|Auriculocondylar syndrome|Acute coronary syndrome, association with	ICGC,
chr11	95972664	95972664	T	A	intronic	MAML2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5312708	-	LIRI-JP|1|258|0.00388	-	-	-	Schizophrenia	COSMIC,ICGC,
chr20	29806625	29806625	G	A	intergenic	MLLT10P1,DEFB115	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr7	10277036	10277036	T	A	intergenic	PER4,NDUFA4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,Complex I deficiency|Cytochrome c oxidase deficiency	ICGC,
chr13	103046605	103046605	G	A	ncRNA_intronic	FGF14-IT1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27967027	-	PRAD-CA|1|308|0.00325	-	-	-	-	COSMIC,ICGC,
chrX	83759796	83759796	C	T	intergenic	HDX,UBE2DNL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	normal phenotype,-	Premature ovarian failure |Mental retardation, X-linked,-	ICGC,
chr1	163411964	163411964	C	T	intergenic	LOC100422212,PBX1	unknown	SNV	-	-	-	3.228e-05	-	-	-	-	-	COSN25360570	-	MALY-DE|1|241|0.00415	-	-	-,integument phenotype	-,Schizophrenia	COSMIC,ICGC,
chr3	100814871	100814871	A	T	intergenic	ABI3BP,IMPG2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6710989	-	LIRI-JP|1|258|0.00388	-	-	-,-	Autism|Potential protein deficiency,Retinitis pigmentosa|Retinitis pigmentosa, autosomal recessive	COSMIC,ICGC,
chr11	133407457	133407457	C	T	intergenic	OPCML,LOC646522	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	no phenotypic analysis,-	Autism spectrum disorder  ,-	ICGC,
chr22	24187321	24187321	G	A	intergenic	DERL3,SLC2A11	unknown	SNV	-	-	-	0.0017	rs549160087	-	0.00179712	-	-	-	-	MELA-AU|1|183|0.00546	-	-	normal phenotype,-	-,-	ICGC,
chr11	133297929	133297929	C	A	intronic	OPCML	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17417575	-	ESAD-UK|1|301|0.00332	-	-	no phenotypic analysis	Autism spectrum disorder  	COSMIC,ICGC,
chr9	75188085	75188085	G	C	intronic	TMC1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	integument phenotype	Nonsyndromic deafness, autosomal recessive|Hearing loss.|Hearing loss, nonsyndromic, autosomal recessive|Hearing loss|DFNB7/B11 deafness|DFNA36 hearing loss, association with|Deafness, non-syndromic, autosomal recessive|Deafness, non-syndromic, autosomal dominant|Deafness, non-syndromic |Deafness	ICGC,
chr11	128730509	128730509	C	T	intronic	KCNJ1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	integument phenotype	Salt-losing tubulopathy |Reduced blood pressure|Bartter syndrome, type II.|Bartter syndrome, type II|Bartter syndrome, antenatal, association with|Bartter syndrome, antenatal|Bartter syndrome	ICGC,
chr6	168168810	168168810	G	A	intergenic	LOC441178,C6orf123	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr3	68935413	68935413	G	A	intronic	FAM19A4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr17	36234136	36234136	A	T	ncRNA_intronic	YWHAEP7	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9668747	-	RECA-EU|1|422|0.00237	-	-	-	-	COSMIC,ICGC,
chr1	177172372	177172372	C	A	intronic	BRINP2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26652166	-	LICA-CN|1|402|0.00249	-	-	-	-	COSMIC,ICGC,
chr3	103383390	103383390	C	T	intergenic	ZPLD1,MIR548A3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	Cerebral cavernous malformations,-	ICGC,
chr22	35014681	35014681	T	A	intergenic	LARGE,ISX	unknown	SNV	-	-	-	0.0002	rs867275871	-	-	-	-	-	-	ESAD-UK|1|301|0.00332,MALY-DE|1|241|0.00415,LIRI-JP|1|258|0.00388	-	-	mortality/aging,no phenotypic analysis	Alpha-dystroglycanopathy |Autism, non-complex|Fukushima congenital muscular dystrophy|Muscular dystrophy, congenital 1D|Walker-Warburg syndrome|Walker-Warburg syndrome.,-	ICGC,
chr7	114942793	114942793	A	G	intergenic	LINC01393,TFEC	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15961060	-	PACA-CA|1|268|0.00373	-	-	-,integument phenotype	-,-	COSMIC,COSMIC,ICGC,
chr4	143719860	143719860	G	A	intronic	INPP4B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN18946990	-	-	-	-	hematopoietic system phenotype	-	COSMIC,
chr4	92493833	92493833	C	T	intronic	CCSER1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr20	35750585	35750585	C	T	intronic	MROH8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr9	80919661	80919661	G	T	exonic	PSAT1	nonsynonymous	SNV	0.001	0.981	-	-	-	-	-	-	-	-	LUAD|1|543|0.00184	-	-	-	mortality/aging	Schizophrenia |Phosphoserine aminotransferase deficiency	TCGA,
chr20	8069464	8069464	C	T	intergenic	TMX4,PLCB1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Wolff-Parkinson-White syndrome|Schizophrenia  |Malignant migrating partial seizures in infancy|Epileptic encephalopathy, severe infantile|Epileptic encephalopathy, early onset|Atrioventricular septal defects	ICGC,
chr11	82272953	82272953	C	T	intergenic	LOC101928989,FAM181B	unknown	SNV	-	-	-	3.229e-05	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr4	18444462	18444462	G	A	intergenic	LCORL,SLIT2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Schizophrenia  	ICGC,
chr14	78957062	78957062	G	A	intronic	NRXN3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging	Alcohol dependence, association with|Autism spectrum disorder  	ICGC,
chr11	104891982	104891982	A	T	intronic	CASP5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	Lung cancer, association with	ICGC,
chr6	168455545	168455545	A	G	downstream	FRMD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr7	85620469	85620469	T	C	intergenic	SEMA3D,GRM3	unknown	SNV	-	-	-	-	rs529171832	-	0.000399361	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,behavior/neurological phenotype	Total anomalous pulmonary venous connection|Tetralogy of Fallot|Hirschsprung disease   ,Schizophrenia, association with|Major depressive disorder, association with	ICGC,
chr13	102901283	102901283	A	C	intronic	FGF14	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	behavior/neurological phenotype	Cerebral ataxia, autosomal dominant	ICGC,
chr14	53775983	53775983	C	T	intergenic	LOC101927620,MIR5580	unknown	SNV	-	-	-	0.0002	rs188961391	-	0.000399361	-	-	COSN16801006	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	COSMIC,ICGC,
chr2	24427864	24427864	G	A	intronic	ITSN2	unknown	SNV	-	-	-	0.2129	rs3731626	-	0.18111	-	0.261	-	-	ESAD-UK|1|301|0.00332	-	-	-	Autism	ICGC,
chr3	189647767	189647767	C	T	intergenic	TP63,LEPREL1	unknown	SNV	-	-	-	0.3340	rs13325815	-	0.291933	-	0.239	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,-	EECUT plus syndrome|Limb-mammary syndrome|Lung adenocarcinoma, susceptibility to, association with|Rapp-Hodgkin syndrome|Rapp-Hodgkin/AEC/ADULT syndrome|Split hand-split foot malformation with amelogenesis imperfecta|Split-hand/split-foot and anorectal malformations.|Split-hand/split-foot malformation|EEC syndrome without clefting|EEC syndrome with linear and whorled naevoid hypermelanosis|ADULT syndrome|ADULT syndrome with cleft palate|AEC / Rapp-Hodgkin syndrome|AEC syndrome|Cleft lip, non-syndromic|Cleft palate, hypohidrosis and oligodontia|Ectrodactyly, ectodermal dysplasia, & clefting/Ectrodactyly-ectoderm. dyspl./Ectoderm. dyspl./Split hand-foot malf. type 4.|EEC syndrome,High myopia  	ICGC,
chr2	140881549	140881549	C	T	intergenic	YY1P2,LRP1B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Schizophrenia   	ICGC,
chr1	221477306	221477306	A	C	intergenic	HLX,C1orf140	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,-	Asthma, association with|Diaphragmatic hernia, congenital ,-	ICGC,
chr21	31629707	31629707	T	A	intergenic	CLDN8,KRTAP24-1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16725913	-	PAEN-IT|1|37|0.02703	-	-	-,-	-,-	COSMIC,COSMIC,ICGC,
chr18	39470013	39470013	C	T	intergenic	KC6,PIK3C3	unknown	SNV	-	-	-	3.229e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Intellectual disability  |Bipolar disorder/schizophrenia association with|Anti-Ro & anti-Sm antibodies, in lupus, in African-Americans, association	ICGC,
chr2	105995249	105995249	A	G	intronic	FHL2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17070898	-	-	-	-	skeleton phenotype	Hip bone size, association with 	COSMIC,
chr5	2335834	2335834	G	A	intergenic	LOC100506858,IRX2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,normal phenotype	-,-	ICGC,
chr5	12726428	12726428	A	G	ncRNA_intronic	LINC01194	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2068111	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,COSMIC,ICGC,
chr18	6700607	6700607	G	A	intergenic	C18orf64,ARHGAP28	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr1	223807070	223807070	G	T	exonic	CAPN8	unknown	SNV	0.282	0.028	-	-	-	-	-	-	-	COSM6344108	-	LICA-CN|2|402|0.00498	-	-	digestive/alimentary phenotype	-	COSMIC,ICGC,
chr5	109773861	109773861	T	C	intronic	TMEM232	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-	-	ICGC,
chr4	97843493	97843493	C	A	intergenic	PDHA2,STPG2-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr5	1854899	1854899	T	A	intergenic	NDUFS6,LOC101929034	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9945271	-	RECA-EU|1|422|0.00237	-	-	mortality/aging,-	Lactic acidemia, neonatal|Mitochondrial complex I deficiency,-	COSMIC,ICGC,
chr4	180082066	180082066	G	A	intergenic	LINC01098,LINC00290	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408,MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr8	74698235	74698235	G	T	intronic	UBE2W	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22924148	-	PAEN-IT|1|37|0.02703	-	-	-	-	COSMIC,ICGC,
chr7	106954334	106954334	G	A	intronic	COG5	unknown	SNV	-	-	-	3.23e-05	-	-	-	-	-	COSN2468182	-	-	-	-	-	Congenital disorders of glycosylation	COSMIC,
chr9	2557909	2557909	T	G	ncRNA_intronic	VLDLR-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr9	105705495	105705495	T	A	intergenic	LINC00587,CYLC2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,Potential protein deficiency	ICGC,
chr2	183316776	183316776	G	A	intronic	PDE1A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Cardiovascular malformations	ICGC,
chr10	50506348	50506348	A	G	ncRNA_intronic	C10orf71-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	-	ICGC,
chr1	195572993	195572993	C	T	intergenic	NONE,KCNT2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr19	36363481	36363481	A	G	exonic	APLP1	nonsynonymous	SNV	0.033	0.999	-	-	-	-	-	-	-	COSM4662464	-	-	-	-	mortality/aging	-	COSMIC,
chr5	154953871	154953871	C	T	intergenic	KIF4B,SGCD	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,mortality/aging	-,Muscular dystrophy, limb girdle 2F|Muscular dystrophy, limb girdle 2 |Muscular dystrophy, limb girdle|Cardiomyopathy, dilated|Anorectal malformation	ICGC,
chr5	121115358	121115358	A	C	intergenic	LOC102467226,FTMT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,normal phenotype	-,Macular degeneration, age related	ICGC,
chr14	28812975	28812975	C	T	intergenic	LINC00645,FOXG1	unknown	SNV	-	-	-	6.461e-05	-	-	-	-	-	COSN6245121	-	SKCA-BR|2|100|0.02000,LIRI-JP|1|258|0.00388	-	-	-,integument phenotype	-,West syndrome |Rett-like syndrome|Rett syndrome|Refractory epilepsy & intellectual impairment|Microcephaly, mental retardation & thin genu of corpus callosum|Mental retardation, speech impairment & epilepsy|Mental retardation & speech impairment|Mental retardation & postnatal microcephaly|Mental retardation & callosum abnormalities|Mental retardation|Infantile spasms|Hemifacial microsomia|Generalized dystonia, athetosis and parkinsonism|Developmental delay, microcephaly & hypoplasia of the corpus callosum|Developmental delay, hypotonia, microcephaly & infantile spasms|Developmental delay & slow head growth|Agenesis of corpus callosum	COSMIC,ICGC,
chr4	71433258	71433258	C	T	intergenic	AMTN,AMBN	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,skeleton phenotype	-,-	ICGC,
chr9	10877687	10877688	CA	-	intergenic	PTPRD-AS2,TYRP1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	-,Albinism, oculocutaneous  |Albinism, oculocutaneous 3|Melanesian blond hair	ICGC,
chr15	69365927	69365927	T	G	ncRNA_intronic	MIR548H4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN28082532	-	PRAD-CA|1|308|0.00325	-	-	-	-	COSMIC,ICGC,
chr5	35951483	35951483	C	T	intergenic	LOC100506406,UGT3A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr2	2760888	2760888	G	T	intergenic	MYT1L,LINC01250	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	Schizophrenia, childhood onset  |Schizophrenia  |Intellectual disability, obesity, hyperphagia & behavioural difficulties|Intellectual disability, obesity & hyperactivity|Intellectual disability  |Brain malformations |Autism ,-	ICGC,
chr2	238289612	238289612	C	A	exonic	COL6A3	nonsynonymous	SNV	0.011	0.986	-	-	-	-	-	-	-	COSM1201969	-	-	-	-	-	Ullrich congenital muscular dystrophy, intermediate|Ullrich congenital muscular dystrophy|Potential protein deficiency|Myopathy  |Muscular dystrophy  |Collagen VI myopathy|Collagen VI deficiency|Bethlem myopathy|Atrioventricular septal defect, Down-syndrome-associated|Atrioventricular septal defect, Down-syndrome associated	COSMIC,COSMIC,
chr18	64571674	64571674	G	T	intergenic	CDH19,MIR5011	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9842983	-	RECA-EU|1|422|0.00237	-	-	-,-	Tetralogy of Fallot,-	COSMIC,ICGC,
chr14	95669246	95669246	C	T	exonic	CLMN	nonsynonymous	SNV	0.279	0.123	0.0002	3.236e-05	rs748564835	0.0002	-	-	-	COSM1201421	-	-	-	-	-	-	COSMIC,
chr6	17826140	17826140	G	A	exonic	KIF13A	stopgain	SNV	-	-	-	-	-	-	-	-	-	COSM5515117	COAD|1|367|0.00272,COADREAD|1|489|0.00204	BTCA-JP|1|239|0.00418	-	-	-	-	COSMIC,COSMIC,COSMIC,TCGA,ICGC,
chr3	139120721	139120721	G	T	ncRNA_intronic	LOC100507291	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-	-	ICGC,
chr16	15939624	15939624	G	A	intronic	MYH11	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype	Schizophrenia|Tetralogy of Fallot|Thoracic aortic aneurysm  |Thoracic aortic aneurysm and patent ductus arteriosus|Thoracic aortic aneurysms and dissections|Thoracic aortic aneurysms and dissections and patent ductus arteriosus|Pulmonary atresia  |Potential protein deficiency|Altered myosin contractile function|Aortic aneurysm |Aortic aneurysm, familial thoracic 4|Aortic dissections, association with |Atrial septal defect |Hypoplastic left heart syndrome	ICGC,
chr13	93836346	93836346	C	T	intergenic	GPC5,GPC6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Spina bifida  ,Omodysplasia|Pancreatic cancer 	ICGC,
chr3	164907732	164907732	G	A	exonic	SLITRK3	nonsynonymous	SNV	0.04	1.0	4.062e-06	-	rs375205161	8.237e-06	-	7.7e-05	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr7	23694499	23694500	GC	-	intergenic	CCDC126,FAM221A	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|2|100|0.02000	-	-	-,-	-,-	ICGC,
chr4	138855629	138855629	G	A	intergenic	PCDH18,LINC00616	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-,-	Intellectual disability  ,-	ICGC,
chr3	163021852	163021852	T	C	upstream	LINC01192	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-	-	ICGC,
chr13	40861017	40861017	G	C	intergenic	LINC00548,LINC00598	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21766086	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr18	35928149	35928149	G	T	intergenic	MIR4318,LINC00669	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chrX	86684717	86684717	A	G	intergenic	DACH2,KLHL4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	normal phenotype,-	-,-	ICGC,
chr20	49861184	49861184	G	A	intergenic	KCNG1,NFATC2	unknown	SNV	-	-	-	0.0005	rs535883808	-	0.000998403	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,hematopoietic system phenotype	-,Developmental delay, facial dysmorphism & skeletal anomalies	ICGC,
chr18	50565967	50565967	G	A	intronic	DCC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Altered p53 transactivation|Colorectal cancer, risk, association with |Mirror movements, congenital	ICGC,
chr1	165948599	165948599	T	G	intergenic	UCK2,FAM78B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26867381	-	UTCA-FR|1|20|0.05000	-	-	-,-	-,-	COSMIC,COSMIC,ICGC,
chr7	15532532	15532532	G	A	intronic	AGMO	unknown	SNV	-	-	-	-	-	-	-	-	0.007	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr9	81833528	81833528	A	G	intergenic	LOC101927450,TLE4	unknown	SNV	-	-	-	0.1730	rs58284445	-	0.162141	-	0.210	-	-	LAML-KR|1|205|0.00488	-	-	-,-	-,-	ICGC,
chr16	26611184	26611184	C	T	intergenic	HS3ST4,C16orf82	unknown	SNV	-	-	-	0.0021	rs8050065	-	0.00579073	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	65101241	65101241	A	T	intronic	CACHD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-	Autism	ICGC,
chr16	80901448	80901449	CA	-	intergenic	CDYL2,CMC2	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr1	37248474	37248474	CC	TT	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr7	147646657	147646657	T	C	ncRNA_intronic	MIR548F3,MIR548T	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr12	128328311	128328311	G	A	intergenic	LOC101927637,FLJ37505	unknown	SNV	-	-	-	3.229e-05	-	-	-	-	-	COSN16797418	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	COSMIC,ICGC,
chr3	148535404	148535404	G	A	intergenic	AGTR1,CPB1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Hypertrophic cardiomyopathy, association with|Increased left ventricular mass, association with|Myocardial infarction, acute, association with|Potential protein deficiency|Preeclampsia, association with|Reduced function|Renal tubular dysgenesis|Right coronary artery in STEM1, association with|Severe chronic periodontitis, association with|Hypertension, association with.|Hypertension, association with|Friedreich ataxia, modifier of|Acromegaly, association with|Atrial fibrillation, association with|Benign prostatic hyperplasia, association with|Blood pressure variation in response to potassium, association with|Body mass index, association with|Breast cancer, reduced risk|Carotid intima-media thickness, association with|Chronic kidney disease, association with|Diastolic heart failure, increased risk, association with,-	ICGC,
chr17	74442648	74442663	ACGGAAACTGAAGGGA	-	intronic	UBE2O	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	-	-	ICGC,
chr3	11851143	11851143	G	T	exonic	TAMM41	nonsynonymous	SNV	0.011	1.0	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr14	103718687	103718687	T	A	intergenic	LINC00605,EIF5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr4	163914870	163914870	G	A	intergenic	FSTL5,NAF1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-,-	Schizophrenia  |Rolandic epilepsy ,-	ICGC,
chr19	56903075	56903075	A	T	intronic	ZNF582	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19668587	-	COCA-CN|1|321|0.00312	-	-	-	Intellectual disability & eye movement disorder	COSMIC,ICGC,
chr3	128602669	128602669	T	A	intronic	ACAD9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Acyl-Coenzyme dehydrogenase 9 deficiency|Complex I deficiency|Riboflavin responsive complex 1 deficiency	ICGC,
chr1	101543415	101543415	A	G	ncRNA_intronic	LOC102606465	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CN|1|65|0.01538	-	-	-	-	ICGC,
chr2	163743918	163743918	G	A	intergenic	KCNH7,FIGN	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,integument phenotype	-,-	ICGC,
chr8	65429218	65429218	T	A	intergenic	MIR124-2HG,LOC401463	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16228497	-	PRAD-CA|1|308|0.00325	-	-	-,-	-,-	COSMIC,ICGC,
chr1	103104539	103104539	T	A	intergenic	OLFM3,COL11A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,mortality/aging	-,Stickler syndrome, type 2|Stickler syndrome|Robin sequence |Osteoarthritis, early-onset|Marshall syndrome|Marshall / Stickler syndrome|Lumbar disc herniation, association with|Fibrochondrogenesis|Deafness  	ICGC,
chr10	24286136	24286136	G	A	intronic	KIAA1217	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Autism spectrum disorder	ICGC,
chr21	10640047	10640047	T	G	intergenic	TEKT4P2,TPTE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,Potential protein deficiency	ICGC,
chr3	82280166	82280166	C	T	intergenic	GBE1,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Potential protein deficiency|Polyglucosan body disease, relapsing-remitting form|Polyglucosan body disease, adult|Lethal multiple pterygium syndrome|Glycogen storage disease 4, non-lethal neuromuscular|Glycogen storage disease 4, neonatal|Glycogen storage disease 4|Autism spectrum disorder|Adult polyglucosan body disease,-	ICGC,
chr2	8160232	8160232	C	T	ncRNA_intronic	LINC00299	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Developmental delay  	ICGC,
chr18	59807680	59807680	A	T	exonic	PIGN	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM709181	LUSC|1|178|0.00562	LUSC-US|1|194|0.00515	-	-	vision/eye phenotype	Autism spectrum disorder|Congenital anomalies, developmenmt|Congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophy|Multiple congenital anomalies & seizures	COSMIC,TCGA,ICGC,
chr14	34113354	34113354	T	G	intronic	NPAS3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging	Mental illness|Schizophrenia	ICGC,
chrX	111466704	111466704	G	C	intronic	ZCCHC16	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	Autism spectrum disorder	ICGC,
chrX	46792206	46792206	A	G	intronic	JADE3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr3	168570696	168570696	A	-	intergenic	EGFEM1P,LOC100507661	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	182003434	182003434	G	A	intergenic	CACNA1E,ZNF648	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	behavior/neurological phenotype,-	Autism|Diabetes, type 2, association with,-	ICGC,
chr3	117709309	117709309	C	T	intergenic	LINC00901,IGSF11	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22715940	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr1	11140823	11140823	G	A	exonic	EXOSC10	synonymous	SNV	-	-	0.0161	0.0119	rs115629713	0.0159	0.00878594	0.0147	-	COSM3750224	-	COAD-US|1|254|0.00394	-	-	-	-	COSMIC,COSMIC,ICGC,
chr8	116691375	116691375	A	T	intergenic	TRPS1,LINC00536	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	integument phenotype,-	Tricho-rhino-phalangeal syndrome with supernumerary teeth|Tricho-rhino-phalangeal syndrome III|Tricho-rhino-phalangeal syndrome I|Tricho-rhino-phalangeal syndrome|Infantile scoliosis & developmental delay|Femoral neck width, association with|Ambras syndrome,-	ICGC,
chr2	121926853	121926853	A	T	intergenic	GLI2,TFCP2L1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6676503	-	LICA-FR|1|252|0.00397	-	-	integument phenotype,mortality/aging	Hypopituitarism  |Hypopituitarism & ectopic posterior pituitary lobe|Hypopituitarism and/or post-axial polydactyly|Multiple pituitary hormone deficiency|Reduced transcriptional activity|Schizophrenia|Holoprosencephaly, lobar|Holoprosencephaly-like phenotype|Cleft lip |Craniofacial anomalies |Holoprosencephaly |Holoprosencephaly spectrum phenotype|Holoprosencephaly with anophthalmia, branchial arch anomalies & CNS anomalies|Holoprosencephaly with heminasal aplasia & orbital anomalies,-	COSMIC,ICGC,
chr18	72615433	72615433	A	-	intronic	ZNF407	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	Intellectual disability and autism|Potential protein deficiency|Schizophrenia  	ICGC,
chr5	129138095	129138095	T	C	intergenic	KIAA1024L,CHSY3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr5	156570130	156570130	C	T	upstream	MED7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-	-	ICGC,
chr9	137736448	137736448	-	A	ncRNA_intronic	LOC101448202	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN19344640	-	-	-	-	-	-	COSMIC,
chr2	157688694	157688694	C	T	intergenic	GPD2,GALNT5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,normal phenotype	Intellectual disability  |Increased plasma FFA and glycerol levels|Diabetes mellitus, type 2,-	ICGC,
chr17	73900185	73900185	G	A	intronic	MRPL38	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9673975	-	RECA-EU|1|422|0.00237	-	-	no phenotypic analysis	-	COSMIC,ICGC,
chr10	38924517	38924517	C	T	intergenic	LINC00999,ACTR3BP5	unknown	SNV	-	-	-	0.0007	rs2310276	-	-	-	-	COSN20408884	-	COCA-CN|1|321|0.00312	-	-	-,-	-,-	COSMIC,ICGC,
chr5	170756507	170756507	T	C	intergenic	TLX3,MIR3912	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	integument phenotype,-	-,-	ICGC,
chr9	105625709	105625709	G	A	intergenic	LINC00587,CYLC2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Potential protein deficiency	ICGC,
chr1	81530753	81530753	A	C	intergenic	NONE,LPHN2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,mortality/aging	-,Schizophrenia	ICGC,
chr9	32104551	32104551	G	C	intergenic	LINC01242,ACO1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26912787	-	UTCA-FR|1|20|0.05000	-	-	-,mortality/aging	-,Schizophrenia	COSMIC,COSMIC,ICGC,
chr1	218560750	218560750	G	C	intronic	TGFB2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging	Breast cancer, progression, association with|Loeys-Dietz syndrome 4|Thoracic aortic aneurysms and dissections	ICGC,
chr6	146868529	146868529	-	T	intronic	RAB32	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	-	ICGC,
chr6	117144351	117144351	C	T	intronic	GPRC6A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype	Potential protein deficiency|Prostate cancer, reduced risk, association with	ICGC,
chr18	1814044	1814044	G	A	intergenic	LINC00470,METTL4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	ICGC,
chr7	134542839	134542839	-	TTT	intronic	CALD1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|2|67|0.02985	-	-	mortality/aging	-	ICGC,
chr4	152502843	152502843	-	A	intronic	FAM160A1	unknown	insertion	-	-	-	0.0002	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	-	ICGC,
chr8	58947281	58947281	C	G	intronic	FAM110B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25765497	-	EOPC-DE|1|202|0.00495	-	-	-	-	COSMIC,ICGC,
chr8	79449959	79449959	G	A	intronic	PKIA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	normal phenotype	-	ICGC,
chr12	106566398	106566398	T	G	intergenic	NUAK1,CKAP4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,-	Autism ,-	ICGC,
chr22	19839507	19839507	C	T	exonic	C22orf29	nonsynonymous	SNV	0.0	0.884	-	-	-	-	-	-	-	-	SKCM|1|368|0.00272	-	-	-	-	-	TCGA,
chr6	56695344	56695344	T	C	intronic	DST	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9798775	-	OV-AU|1|93|0.01075	-	-	integument phenotype	Epidermolysis bullosa simplex|Epidermolysis bullosa simplex, autosomal recessive|Oesophageal atresia and psychomotor retardation	COSMIC,ICGC,
chr1	40805457	40805457	A	C	intergenic	COL9A2,SMAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15542612	-	OV-AU|1|93|0.01075	-	-	-,-	Stickler syndrome|Multiple epiphyseal dysplasia|Lumbar stenosis|Intervertebral disc disease|Disc degeneration, association with,-	COSMIC,COSMIC,COSMIC,ICGC,
chr11	108121490	108121490	C	A	exonic	ATM	nonsynonymous	SNV	0.039	0.761	-	-	-	-	-	-	-	-	GBMLGG|1|820|0.00122,LGG|1|530|0.00189	-	-	-	mortality/aging	Tissue response in radiotherapy, association with|Multiple myelomas|Multiple cancers|Mantle cell lymphoma|Lung cancer, increased risk, association with|Longevity, association with|Longer telomere length, association with|Leukaemia risk|Increased risk of lung cancer in never smokers, association with |Hodgkin disease |Multiple sessile serrated adenoma|Non-obstructive azoospermia, increased risk|Stable coronary atherosclerotic lesions, association with |Radiotherapy tissue response|Prostate cancer  |Pancreatic cancer, association with|Pancreatic cancer|Ovarian cancer |Oral cancer susceptibility, association with|Ocular telangiectasia|Non-small-cell lung cancer, association with |Colorectal cancer?|Colorectal cancer, age of onset, association with.|Chronic lymphocytic leukaemia risk|Ataxia telangiectasia, variant|Ataxia telangiectasia, mild|Ataxia telangiectasia, late-onset variant|Ataxia telangiectasia, atypical|Ataxia telangiectasia|Ataxia telangiecstasia|Astrocytoma, association with|Acute lymphoblastic leukaemia||Breast cancer |Breast cancer risk in older women, association |Breast cancer susceptibility|Chronic lymphocytic leukaemia progression|Breast carcinoma, association with.|Breast cancer.|Breast cancer, susceptibility to |Breast cancer, susceptibility |Breast cancer, increased risk|Breast cancer, contralateral, reduced risk, association with|Breast cancer, bilateral, association with|Breast cancer, association with	TCGA,
chr9	121432221	121432221	G	A	intergenic	TLR4,BRINP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,-	Phenotypic variation in haemochromatosis, association with|Periodontitis, association with|Pancreatic necrotic infection, association with|Negative association with FMF|Nasopharyngeal cancer, increased risk, association with|Moraxella catarrhalis infection, increased risk, association with|Metabolic syndrome, association with|Meningococcal disease susceptibility|Meningococcal disease mortality|Lung function, association with|Lower left ventricular mass, in hypertensive women, association|Increased risk of cirrhosis in chronic hepatitis C ?|Increased liver and body fat, association with|Potential protein deficiency|Preterm birth and premature rupture of membranes, association with|Tuberculosis susceptibility, in HIV-infected patients, association|Serious infection, in HIV-1 patients, association with|Retinitis pigmentosa |Reduced LPS-induced IL-12 secretion, association with|Reduced expression|Pulmonary tuberculosis, susceptibility and severity, association|Pulmonary tuberculosis, severity, association with|Protection from urinary tract infection, association with|Protection against being overweight|Prostate cancer, increased risk|Prostate cancer risk, association with|Primary open-angle, normal-tension, and exfoliation glaucoma, association with.|Typhoid infection, increased risk, association with|Increased IL-4 secretion response to measles vaccination, association|Cutaneous leishmaniasis, association with|Crohn's disease, association with|Colorectal cancer, association with.|Colorectal cancer risk, association with|Cervical cancer, early stage, association with|Cancer, increased risk, association with|Bronchopulmonary Dysplasia, infant, association with|Breast cancer, association with.|Behcet disease, protection against, association with|Altered monocyte receptor levels|Acute pyelonephritis, reduced risk in adults, association with|Acute pyelonephritis, in children, association with|Diabetes, type 2, protection against, association with|Digestive system cancer, increased risk & prostate cancer, protection against, association with|Emphysema, association with|Increased expression|Helicobacter pylori-related gastric atrophy, association with|HBV recurrence after liver transplantation, association with|Guillain-Barré syndrome, association with|Guillain-Barré syndrome, AMAN sub-type, association with|Gastritis, association with|Gastric carcinoma, association with|Endometriosis, association with|Endotoxin hyporesponsiveness, association with|Extra-intestinal manifestations in Crohn's disease, association with.|Gastric adenocarcinoma, association with|Gastric cancer, association with,-	ICGC,
chr4	168869601	168869601	C	T	intergenic	SPOCK3,ANXA10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr12	10827472	10827473	CC	-	upstream	STYK1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|3|67|0.04478	-	-	-	-	ICGC,
chr5	121267373	121267373	T	C	intergenic	FTMT,SRFBP1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22580370	-	BRCA-EU|1|569|0.00176	-	-	normal phenotype,-	Macular degeneration, age related,-	COSMIC,ICGC,
chr1	220224734	220224734	A	T	ncRNA_intronic	RNU5F-1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr20	46908612	46908612	T	A	intergenic	LOC101927457,LINC00494	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1249852	-	LINC-JP|1|394|0.00254	-	-	-,-	-,-	COSMIC,ICGC,
chr7	108537951	108537951	C	G	intergenic	C7orf66,EIF3IP1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9918954	-	RECA-EU|1|422|0.00237	-	-	-,-	-,-	COSMIC,ICGC,
chr6	146333428	146333428	C	T	intergenic	SHPRH,GRM1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Schizophrenia / bipolar disorder |Schizophrenia  |Cerebellar ataxia, autosomal recessive congenital|Attention deficit hyperactivity disorder	ICGC,
chr6	57330555	57330555	G	A	intronic	PRIM2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-	Potential protein deficiency	ICGC,
chr4	22862953	22862953	A	T	intergenic	GBA3,MIR548AJ2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	Cytosolic beta-glucosidase deficiency, association,-	ICGC,
chr12	33979516	33979516	T	G	intergenic	SYT10,ALG10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	behavior/neurological phenotype,-	-,-	ICGC,
chr3	118070912	118070912	G	A	intergenic	LINC00901,IGSF11	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr12	7039586	7039586	T	C	intronic	ATN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CN|1|65|0.01538	-	-	mortality/aging	Hypoalbuminemia, in early-onset dentatorubral-pallidoluysian atrophy.|Dentatorubro-pallidoluysian atrophy (Haw river)	ICGC,
chr17	41792772	41792772	A	G	intergenic	MEOX1,SOST	unknown	SNV	-	-	-	0.5312	rs2342313	-	0.514776	-	0.464	-	-	ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488	-	-	integument phenotype,skeleton phenotype	Klippel-Feil syndrome,Sclerosteosis|Osteoporosis, association with  |Craniodiaphyseal dysplasia, autosomal dominant|Bone-mineral density, association with |van Buchem disease	ICGC,
chr2	208546390	208546390	A	C	intergenic	METTL21A,CCNYL1	unknown	SNV	-	-	-	0.3826	rs78192213	-	0.45627	-	0.275	-	-	LUSC-KR|1|170|0.00588	-	-	-,integument phenotype	-,-	ICGC,
chr18	40088757	40088757	G	A	ncRNA_intronic	LINC00907	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr18	38092008	38092008	C	T	intergenic	LOC101927900,KC6	unknown	SNV	-	-	-	3.235e-05	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chrX	142938466	142938466	G	A	intergenic	SPANXN2,UBE2NL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Potential protein deficiency	ICGC,
chr14	68485103	68485103	T	C	intronic	RAD51B	unknown	SNV	-	-	-	0.2147	rs10129355	-	0.233826	-	0.210	-	-	LAML-KR|1|205|0.00488	-	-	mortality/aging	Potential protein deficiency|Breast cancer, male, association with|Breast and/or ovarian cancer	ICGC,
chr6	53205025	53205025	G	A	intronic	ELOVL5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	reproductive system phenotype	-	ICGC,
chr12	103237543	103237543	C	T	exonic	PAH	synonymous	SNV	-	-	8.133e-06	-	-	-	-	-	-	COSM5962192	-	BRCA-FR|1|72|0.01389	-	-	integument phenotype	Schizophrenia, association with  |Schizophrenia|Schizoaffective disorder|Phenylketonuria.|Phenylketonuria|Increased activity |Hyperphenylalaninaemia, mild|Hyperphenylalaninaemia	COSMIC,ICGC,
chr4	29058013	29058013	C	T	intergenic	MIR4275,PCDH7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	114242842	114242842	C	G	intronic	CBWD2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-UK|1|140|0.00714	-	-	-	-	ICGC,
chr8	65776989	65776989	G	A	intergenic	CYP7B1,LINC00251	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Spastic paraplegia 5a.|Spastic paraplegia 5a|Spastic paraplegia 5 with sensory ataxia|Spastic paraplegia 5|Spastic paraplegia|Increased transcriptional activity|HIV 1 infection, reduced risk, association with|Cholestasis, severe,-	ICGC,
chr4	142850637	142850637	C	T	intergenic	IL15,INPP4B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7740290	-	PACA-AU|1|391|0.00256	-	-	mortality/aging,hematopoietic system phenotype	-,-	COSMIC,ICGC,
chr4	181176201	181176201	G	A	intergenic	NONE,LINC00290	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23288062	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	COSMIC,ICGC,
chr5	103392320	103392320	C	T	intergenic	NUDT12,RAB9BP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr8	15960348	15960348	A	G	intergenic	TUSC3,MSR1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16840681	-	PACA-CA|1|268|0.00373	-	-	-,mortality/aging	Mental retardation, non-syndromic, autosomal recessive|Intellectual disability, syndromic  |Intellectual disability, nonsyndromic, autosomal recessive|Intellectual disability & autism|Attention deficit hyperactivity disorder ,Prostate cancer, association with|Prostate cancer|Chronic obstructive pulmonary disease, in smokers, association with|Barrett oesophagus/oesophageal adenocarcinoma|Atherosclerosis, increased risk, association with	COSMIC,ICGC,
chr6	152156261	152156261	C	T	intronic	ESR1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	integument phenotype	Osteoporosis|Oestrogen resistance|Lower femoral neck BMD, association with|Left ventricular hypertrophy, association with |Ischaemic stroke, association with.|Osteoporosis, association with|Plasma lipid levels, association with|Precocious puberty|Prostate cancer, association with|Reduced plasma B-type natriuretic peptide levels, association|Reduced spermatogenesis in infertile men, association|Systemic lupus erythematosus, risk, association with |Thyroid cancer, tumour status, association with|Infertility, male, association with|Increased HDL cholesterol, association with|Altered endothelial fibrinolytic regulation|Altered gene expression|Altered splicing |Altered transcriptional regulation |Alzheimer disease in women, increased risk|Breast cancer  |Breast cancer in women of 50 years or younger, association with|Breast cancer, association with |Castration-resistant prostate cancer, association|Cleft lip and palate |Endometrial cancer risk, association with|Hepatitis  B virus-related liver cirrhosis, association with|Increased HDL cholesterol after HRT, association with	ICGC,
chr2	115209827	115209827	C	T	intronic	DPP10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Autism spectrum disorder	ICGC,
chr2	116360043	116360043	G	A	intronic	DPP10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	Autism spectrum disorder	ICGC,
chr6	19107276	19107276	-	A	ncRNA_intronic	LOC101928519	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr8	47212848	47212848	T	G	intergenic	NONE,LINC00293	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr16	19263780	19263780	C	T	intronic	SYT17	unknown	SNV	-	-	-	0	rs764086518	-	-	-	-	COSN17973541	-	SKCA-BR|1|100|0.01000	-	-	-	-	COSMIC,ICGC,
chr2	204487810	204487810	G	A	intergenic	RAPH1,CD28	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8344859	-	PRAD-UK|1|140|0.00714	-	-	-,hematopoietic system phenotype	-,-	COSMIC,ICGC,
chr2	77301172	77301172	A	T	intronic	LRRTM4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN4806869	-	MALY-DE|1|241|0.00415	-	-	-	-	COSMIC,ICGC,
chr4	70338054	70338054	C	T	intergenic	UGT2B28,UGT2B4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	Null allele|Circulating steroid levels, association with,-	ICGC,
chr5	12159179	12159179	T	G	intergenic	CTNND2,LINC01194	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	behavior/neurological phenotype,-	Schizophrenia  |Lennox-Gastaut syndrome |Autism spectrum disorder|Anorectal malformation|Altered localisation,-	ICGC,
chr1	24686134	24686134	A	T	intronic	GRHL3,STPG1	unknown	SNV	-	-	-	0.0004	-	-	-	-	-	-	-	LAML-KR|1|205|0.00488	-	-	integument phenotype,-	Van der Woude syndrome,-	ICGC,
chr3	8057728	8057728	T	G	ncRNA_exonic	LOC101927394	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-	-	ICGC,
chr8	52853849	52853849	G	C	intergenic	PCMTD1,ST18	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16708604	-	PAEN-IT|1|37|0.02703	-	-	-,homeostasis/metabolism phenotype	-,-	COSMIC,COSMIC,ICGC,
chr20	51879980	51879980	C	T	intronic	TSHZ2	unknown	SNV	-	-	-	3.229e-05	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Schizophrenia	ICGC,
chr1	145075763	145075763	C	T	exonic	PDE4DIP	nonsynonymous	SNV	-	-	0	0	-	-	-	-	-	-	-	GACA-JP|1|585|0.00171	-	-	-	Potential protein deficiency	ICGC,
chr4	62828889	62828889	T	C	intronic	LPHN3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	-	ICGC,
chr7	115294499	115294499	T	G	intergenic	LINC01393,TFEC	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN14890058	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	-,-	COSMIC,ICGC,
chr2	191177960	191177960	-	CCCT	intronic	HIBCH	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	Neurodegeneration, progressive infantile|Potential protein deficiency	ICGC,
chr11	48735839	48735839	C	T	intergenic	OR4A47,TRIM49B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr13	71259418	71259418	C	T	intergenic	ATXN8OS,LINC00348	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,-	Huntington disease  |Spinocerebellar ataxia 8,-	ICGC,
chr9	23955964	23955964	G	C	intergenic	ELAVL2,IZUMO3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BOCA-UK|1|130|0.00769	-	-	-,-	Schizophrenia, association with  ,-	ICGC,
chr12	17825164	17825164	C	A	intergenic	SKP1P2,MIR3974	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	ICGC,
chr7	157491580	157491580	C	T	intronic	PTPRN2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	homeostasis/metabolism phenotype	-	ICGC,
chr7	108501330	108501330	-	T	intergenic	DNAJB9,C7orf66	unknown	insertion	-	-	-	0.0002	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-,-	-,-	ICGC,
chr13	24220676	24220676	T	C	intronic	TNFRSF19	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	-	ICGC,
chr9	43859623	43859623	G	A	ncRNA_intronic	CNTNAP3P2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-	-	ICGC,
chr6	68413587	68413587	G	C	intergenic	SLC25A51P1,BAI3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr20	23982120	23982120	A	-	intergenic	GGTLC1,FLJ33581	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538,LIRI-JP|1|258|0.00388	-	-	-,-	-,-	ICGC,
chrX	103424587	103424587	T	G	intronic	FAM199X	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-	-	ICGC,
chr1	233275476	233275476	G	A	exonic	PCNXL2	nonsynonymous	SNV	0.052	0.397	5.192e-05	3.229e-05	rs372486460	0.0001	-	8.5e-05	-	COSM394716	-	BRCA-UK|1|141|0.00709,BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr11	117363973	117363973	A	T	intronic	DSCAML1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	mortality/aging	-	ICGC,
chr7	104872830	104872830	C	T	intronic	SRPK2	unknown	SNV	-	-	-	0.0128	rs141261452	-	0.00938498	-	0.007	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	-	ICGC,
chr8	60197239	60197239	C	T	intergenic	TOX,CA8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	hematopoietic system phenotype,behavior/neurological phenotype	Pulmonary tuberculosis, association  with,Ataxia, cerebellar hypoplasia|Cerebellar ataxia and quadrupedal locomotion|Cerebellar ataxia, mental retardation & dysequilibrium syndrome 3	ICGC,
chr5	2629675	2629675	C	T	intergenic	LOC100506858,IRX2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,normal phenotype	-,-	ICGC,
chr2	162816883	162816883	A	G	intronic	SLC4A10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Schizophrenia  |Partial epilepsy and mental retardation|Mental retardation & muscular hypotonia|Mental retardation & generalised hypotonia|Epilepsy & mental retardation|Autism	ICGC,
chr10	29637954	29637954	C	T	intergenic	LYZL1,LOC102724316	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr14	38574445	38574445	G	A	intergenic	FOXA1,SSTR1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,vision/eye phenotype	Impaired glucose homeostasis ,-	ICGC,
chr5	31199327	31199327	C	T	intronic	CDH6	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8223777	-	COCA-CN|1|321|0.00312,PACA-CA|1|268|0.00373,LIRI-JP|1|258|0.00388	-	-	renal/urinary system phenotype	-	COSMIC,ICGC,
chr8	8196974	8196974	G	A	intronic	SGK223	unknown	SNV	-	-	1.631e-05	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-	Potential protein deficiency	ICGC,
chr21	16994574	16994574	C	T	intergenic	NRIP1,USP25	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	reproductive system phenotype,hematopoietic system phenotype	Lung cancer, susceptibility to, association with,-	ICGC,
chr7	119001627	119001627	G	A	intergenic	ANKRD7,KCND2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17356361	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	-,Epilepsy, temporal lobe	COSMIC,ICGC,
chr18	54045368	54045368	G	A	intergenic	LOC100505474,TXNL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	2565711	2565711	C	T	intergenic	MYT1L,LINC01250	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	Schizophrenia, childhood onset  |Schizophrenia  |Intellectual disability, obesity, hyperphagia & behavioural difficulties|Intellectual disability, obesity & hyperactivity|Intellectual disability  |Brain malformations |Autism ,-	ICGC,
chr8	37702170	37702170	C	A	exonic	BRF2	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM1099484	UCEC|1|248|0.00403	UCEC-US|1|250|0.00400	-	-	-	-	COSMIC,TCGA,ICGC,
chr13	74676018	74676018	G	A	intronic	KLF12	unknown	SNV	-	-	-	3.23e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr5	164705495	164705495	G	T	intergenic	LOC102546299,CTB-7E3.1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2084452	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,COSMIC,ICGC,
chr3	191657847	191657847	A	C	intergenic	LINCR-0002,FGF12	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,behavior/neurological phenotype	-,-	ICGC,
chr1	56612800	56612800	A	T	intergenic	MIR4422,PPAP2B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,mortality/aging	-,-	ICGC,
chr1	217733581	217733581	G	A	intronic	GPATCH2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-	-	ICGC,
chr3	85065271	85065271	A	C	intronic	CADM2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr6	58053374	58053374	C	T	intergenic	PRIM2,GUSBP4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Potential protein deficiency,-	ICGC,
chr16	20107125	20107125	A	G	intergenic	GPR139,GP2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15014752	-	ESAD-UK|1|301|0.00332	-	-	-,endocrine/exocrine gland phenotype	Autism|Schizophrenia    ,Pancreatitis, reduced risk, association with  	COSMIC,ICGC,
chr5	27809516	27809516	G	A	intergenic	LINC01021,LSP1P3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr6	111223254	111223254	C	T	intergenic	AMD1,GTF3C6	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20852371	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging,-	Developmental delay   |Autism spectrum disorder,-	COSMIC,ICGC,
chr14	45203073	45203073	C	G	intergenic	FSCB,C14orf28	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	Tourette syndrome ,Schizophrenia	ICGC,
chr3	630467	630467	-	T	intergenic	CHL1,LINC01266	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN22816139	-	-	-	-	behavior/neurological phenotype,-	Tetralogy of Fallot|Schizophrenia, association with|Potential protein deficiency|Mental retardation & microcephaly |Mental retardation|Learning difficulties, microcephaly and growth retardation|Intellectual disability and epilepsy,-	COSMIC,
chr7	19697325	19697325	C	T	intergenic	FERD3L,TWISTNB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	cellular phenotype,-	-,-	ICGC,
chr7	142135962	142135962	C	T	intergenic	TRY2P,MTRNR2L6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	154161731	154161731	G	T	intergenic	ARL6IP6,RPRM	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25656885	-	MALY-DE|1|241|0.00415	-	-	-,-	Autism spectrum disorder|Bardet-Biedl like features,-	COSMIC,ICGC,
chr5	85657973	85657973	C	T	intergenic	NBPF22P,COX7C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	11254455	11254455	G	A	intergenic	CLNK,MIR572	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype,-	Immunodeficiency, common variable, association with,-	ICGC,
chr18	48556645	48556645	C	A	UTR5	SMAD4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	-	Osler_hemorrhagic_telangiectasia_syndrome|Myhre_syndrome|Juvenile_Polyposis	-	integument phenotype	Pulmonary arterial hypertension|Myhre syndrome|Laryngotracheal stenosis, arthropathy, prognathism & short stature|Juvenile polyposis syndrome/Ménétrier's disease.|Juvenile polyposis syndrome with thoracic aortic disease|Juvenile polyposis syndrome|Juvenile polyposis coli|Juvenile polyposis and haemorrhagic telangiectasia|Haemorrhagic telangiectasia|Gastrointestinal polyposis|Breast cancer 	ClinVar,
chr5	111950495	111950495	G	A	intergenic	EPB41L4A-AS2,LOC102467214	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr2	111656345	111656345	G	T	intronic	ACOXL	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15205434	-	ESAD-UK|1|301|0.00332	-	-	-	-	COSMIC,ICGC,
chr1	120538655	120538655	C	T	intronic	NOTCH2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	integument phenotype	Serpentine fibula-polycystic kidney syndrome|Ovarian cancer |Hyperinsulinism|Hajdu-Cheney syndrome and diabetes mellitus, type 1.|Hajdu-Cheney syndrome|Alagille syndrome	ICGC,
chr4	178011980	178011980	T	C	intergenic	VEGFC,NEIL3	unknown	SNV	-	-	-	0.1645	rs202247159	-	0.248003	-	-	-	-	LAML-KR|1|205|0.00488	-	-	mortality/aging,immune system phenotype	Lymphoedema, primary, Milroy-like,-	ICGC,
chr4	177751516	177751516	A	C	intergenic	VEGFC,NEIL3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,immune system phenotype	Lymphoedema, primary, Milroy-like,-	ICGC,
chr17	3227650	3227650	A	G	intergenic	OR3A4P,OR1E1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr4	136822473	136822473	G	A	ncRNA_intronic	LINC00613	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr5	151499888	151499888	G	T	ncRNA_intronic	CTB-12O2.1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CN|1|65|0.01538	-	-	-	-	ICGC,
chr15	20464240	20464240	G	T	intergenic	NONE,CHEK2P2	unknown	SNV	-	-	-	0.0132	rs370338304	-	-	-	-	-	-	LAML-KR|1|205|0.00488,PRAD-CA|1|308|0.00325	-	-	-,-	-,-	ICGC,
chr8	41686363	41686363	C	T	intronic	ANK1	unknown	SNV	-	-	-	0.1453	rs13265366	-	0.117212	-	0.167	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype	Schizophrenia|Spherocytosis|Spherocytosis, psychomotor developmental delay & facial features	ICGC,
chr14	50264353	50264353	-	CA	intronic	NEMF	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN24331593	-	-	-	-	-	-	COSMIC,
chr1	187148930	187148930	C	G	intergenic	PLA2G4A,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,-	Asthma, association with|Cryptogenic multifocal ulcerating stenosing enteritis|Increased enzyme activity|Prostanoid biosynthesis deficiency,-	ICGC,
chr4	11138968	11138968	T	A	intergenic	CLNK,MIR572	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	hematopoietic system phenotype,-	Immunodeficiency, common variable, association with,-	ICGC,
chr9	73421682	73421682	T	C	intronic	TRPM3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	integument phenotype	Schizophrenia  |Mental retardation	ICGC,
chr18	22358235	22358235	A	G	intergenic	LOC729950,ZNF521	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,skeleton phenotype	-,-	ICGC,
chr13	37314790	37314790	G	A	intergenic	SERTM1,RFXAP	unknown	SNV	-	-	-	3.234e-05	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	-,-	-,Immunodeficiency|Bare lymphocyte syndrome, complementation group D|Bare lymphocyte syndrome	ICGC,
chr11	119285441	119285441	G	A	ncRNA_intronic	USP2-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr12	130616234	130616234	G	T	intergenic	LOC100190940,FZD10-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26503931	-	LICA-CN|1|402|0.00249	-	-	-,-	-,-	COSMIC,ICGC,
chr1	154078730	154078730	C	G	intronic	NUP210L	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-UK|1|141|0.00709	-	-	reproductive system phenotype	-	ICGC,
chr1	104644636	104644636	G	A	intergenic	LOC100129138,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr8	124024363	124024363	A	G	intergenic	ZHX2,DERL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	homeostasis/metabolism phenotype,-	-,-	ICGC,
chr5	178549733	178549733	C	A	exonic	ADAMTS2	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM4889948	-	ORCA-IN|1|178|0.00562	-	-	integument phenotype	Ehlers-Danlos syndrome VIIc	COSMIC,ICGC,
chr9	78679685	78679685	G	A	intronic	PCSK5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging	Low HDL cholesterol	ICGC,
chr1	111865036	111865036	A	C	intergenic	CHIA,PIFO	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1401364	-	LIRI-JP|1|258|0.00388	-	-	-,mortality/aging	Reduced serum total IgE in atopic asthma, association with|Lower FEV(1) in asthma, association with|Increased rate of decline in lung function, association with|Increased enzyme activity |Asthma, protection against, association with|Asthma, bronchial, association with |Asthma, atopic, association with,-	COSMIC,ICGC,
chr13	23777859	23777859	C	G	exonic	SGCG	nonsynonymous	SNV	0.202	0.006	-	-	-	-	-	-	-	COSM3813564	BRCA|1|982|0.00102	BRCA-US|1|955|0.00105	-	-	mortality/aging	Muscular dystrophy, limb girdle 2D|Muscular dystrophy, limb girdle 2C|Muscular dystrophy, limb girdle|Muscular dystrophy|Cardiomyopathy and reduced dystrophin expression	COSMIC,TCGA,ICGC,
chr6	115183753	115183753	G	A	intergenic	HS3ST5,FRK	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,homeostasis/metabolism phenotype	-,Potential protein deficiency	ICGC,
chr15	92432249	92432249	-	AAA	intronic	SLCO3A1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|2|67|0.02985	-	-	-	-	ICGC,
chr13	22604777	22604777	G	A	intergenic	LINC00424,LINC00540	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr20	25236364	25236364	G	A	intronic	PYGB	unknown	SNV	-	-	-	0.0001	rs527966423	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-	-	ICGC,
chr8	125186044	125186044	A	C	intergenic	FER1L6-AS2,TMEM65	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	203648194	203648194	C	G	intronic	ATP2B4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7198711	-	BRCA-EU|1|569|0.00176,PACA-AU|1|391|0.00256	-	-	reproductive system phenotype	Schizophrenia  |Autism	COSMIC,ICGC,
chr8	127330039	127330039	C	T	intergenic	LINC00861,FAM84B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr18	37870330	37870333	ACAC	-	intergenic	LOC101927900,KC6	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr14	37131233	37131233	G	T	UTR5	PAX9	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26562855	-	LICA-CN|1|402|0.00249	-	-	mortality/aging	Tooth agenesis.|Tooth agenesis|Oligodontia/hypodontia|Oligodontia, molar|Oligodontia|Hypodontia|Dental agenesis|Cleft lip with or without cleft palate, nonsyndromic 	COSMIC,ICGC,
chr1	160106720	160106720	C	T	exonic	ATP1A2	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM6058705	LUAD|1|543|0.00184	-	-	-	integument phenotype	Hemiplegic migraine|Transient nonverbal learning disorder in hemiplegic migraine|Schizophrenia  |Psychotic aura symptoms, in familial hemiplegic migraine type 2.|Migraine|Hemiplegic migraine with cerebral vasoconstriction|Hemiplegic migraine and epilepsy|Hemiplegic migraine 2.|Hemiplegic migraine 2 with febrile seizures|Hemiplegic migraine 2	COSMIC,TCGA,
chr8	61017220	61017220	C	A	intergenic	TOX,CA8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	hematopoietic system phenotype,behavior/neurological phenotype	Pulmonary tuberculosis, association  with,Ataxia, cerebellar hypoplasia|Cerebellar ataxia and quadrupedal locomotion|Cerebellar ataxia, mental retardation & dysequilibrium syndrome 3	ICGC,
chr3	149535739	149535739	C	T	intronic	RNF13	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr1	55495996	55495996	C	T	intergenic	BSND,PCSK9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,homeostasis/metabolism phenotype	Schizophrenia  |Reduced function|Deafness, nonsyndromic  |Deafness  |Bartter syndrome, antenatal|Bartter syndrome with sensorineural deafness|Bartter syndrome  ,LDL-cholesterol levels, association with|Low LDL cholesterol|Low LDL cholesterol, association|Low LDL cholesterol, association with|Lower plasma LDL-C levels, association with|Plasma lipid levels|Reduced LDL cholesterol levels|Serum lipid parameters, association with|Increased IMT progression, association with|Hypocholesterolaemia|Hypobetalipoproteinaemia|Atherosclerosis, severity, association with|Coronary heart disease, reduced risk, association with|High LDL cholesterol |High LDL cholesterol, association with|Hypercholesterolaemia |Hypercholesterolaemia ?|Hypercholesterolaemia, autosomal dominant|Hyperlipidaemia	ICGC,
chr11	41342515	41342515	G	T	intronic	LRRC4C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-	-	ICGC,
chr8	109820439	109820439	G	A	intergenic	TMEM74,TRHR	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9522741	-	OV-AU|1|93|0.01075	-	-	-,reproductive system phenotype	-,Essential hypertension, association with|Isolated central hypothyroidism|Schizophrenia	COSMIC,ICGC,
chr21	10941544	10941544	CC	TT	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr15	26442222	26442222	G	A	intergenic	LINC00929,GABRB3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,Neurological deficits of Angelman syndrome|Mesial temporal lobe epilepsy with depression, association with|Increased promoter activity|Epilepsy, childhood absence, association with|Chronic insomnia |Autism, association with |Autism spectrum disorder|Anorectal malformation	ICGC,
chr7	15984519	15984519	G	C	intergenic	MEOX2-AS1,ISPD	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LAML-KR|1|205|0.00488	-	-	-,-	-,Walker-Warburg syndrome / muscle-eye-brain disease|Walker-Warburg syndrome|Muscular dystrophy, limb girdle with mental retardation|Muscular dystrophy, limb girdle with cerebellar involvement|Muscular dystrophy, limb girdle|Muscular dystrophy, congenital|Muscle-eye-brain disease|Cobblestone lissencephaly	ICGC,
chr11	25605076	25605076	A	T	intergenic	LUZP2,ANO3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5905235	-	LIRI-JP|1|258|0.00388	-	-	normal phenotype,-	Anorectal malformation,Craniocervical dystonia|Dystonia, primary torsion	COSMIC,ICGC,
chr7	88561729	88561729	G	A	intronic	ZNF804B	unknown	SNV	-	-	-	0.0002	rs749867002	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr13	112888582	112888582	A	G	intergenic	LINC01070,LOC101928730	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	ICGC,
chr7	135514134	135514134	-	T	intergenic	FAM180A,LUZP6	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	-,-	-,-	ICGC,
chr2	147918239	147918239	C	T	intergenic	PABPC1P2,ACVR2A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,-	ICGC,
chr12	119032643	119032643	-	T	intergenic	SUDS3,SRRM4	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging,-	-,-	ICGC,
chr1	45739201	45739201	-	AAAAAC	intergenic	ZSWIM5,LINC01144	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr5	160300954	160300954	C	G	intergenic	ATP10B,LOC285629	unknown	SNV	-	-	-	0.0152	rs564277658	-	0.0197684	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr7	129203719	129203719	C	T	intergenic	SMKR1,NRF1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,-	ICGC,
chrX	121508324	121508324	G	A	intergenic	GLUD2,GRIA3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	Parkinson disease, earlier onset, association with,Mental retardation, X-linked|Intellectual disability, X-linked with facial dysmorphism|Intellectual disability, X-linked|Autism spectrum disorder	ICGC,
chr7	98783973	98783973	G	A	intronic	KPNA7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Infantile spasms, intractable epilepsy & cerebellar malformation	ICGC,
chr8	127050945	127050945	C	A	intergenic	LINC00861,FAM84B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22480367	-	BRCA-UK|1|141|0.00709,BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr12	78853169	78853169	G	A	intergenic	NAV3,SYT1	unknown	SNV	-	-	-	-	rs534273769	-	0.000399361	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,-	ICGC,
chr2	48188314	48188314	G	A	intergenic	FBXO11,FOXN2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	-,-	ICGC,
chr8	51382879	51382879	G	C	intronic	SNTG1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20446225	-	COCA-CN|1|321|0.00312	-	-	-	Autism|Intellectual disability, cleft palate, hearing loss and dysmorphisms	COSMIC,ICGC,
chr5	154608772	154608772	G	A	intergenic	KIF4B,SGCD	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,Muscular dystrophy, limb girdle 2F|Muscular dystrophy, limb girdle 2 |Muscular dystrophy, limb girdle|Cardiomyopathy, dilated|Anorectal malformation	ICGC,
chr9	76340039	76340039	G	A	intergenic	ANXA1,MIR6130	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Autism spectrum disorder,-	ICGC,
chrX	143947278	143947278	-	T	intergenic	UBE2NL,SPANXN1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	Potential protein deficiency,-	ICGC,
chr2	131984541	131984541	C	T	intronic	POTEE	unknown	SNV	-	-	2.576e-05	0.0074	rs748526166	4.346e-05	-	-	-	COSN26665654	-	LICA-CN|3|402|0.00746	-	-	-	-	COSMIC,COSMIC,COSMIC,ICGC,
chr14	83685436	83685436	A	T	intergenic	LOC101928559,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	RECA-EU|1|422|0.00237	-	-	-,-	-,-	ICGC,
chr6	46032910	46032910	C	A	intronic	CLIC5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	respiratory system phenotype	-	ICGC,
chrX	126674922	126674922	G	A	intergenic	PRR32,ACTRT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr6	16982904	16982904	T	A	intergenic	ATXN1,STMND1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Spinocerebellar ataxia 1|Schizophrenia, association with |Maculopathy with spinocerebellar ataxia type 1.|Intellectual disability & behavioural abnormalities|Azoospermia, association with|Amyotrophic lateral sclerosis,-	ICGC,
chr1	151990079	151990079	G	C	upstream	NBPF18P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	-	ICGC,
chr19	3849044	3849044	C	T	intronic	ZFR2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-	Schizophrenia  	ICGC,
chr12	43921629	43921629	A	T	intronic	ADAMTS20	unknown	SNV	-	-	-	0.0230	rs117992065	-	0.0361422	-	0.022	-	-	LAML-KR|1|205|0.00488	-	-	integument phenotype	-	ICGC,
chr13	23910127	23910127	A	G	exonic	SACS	nonsynonymous	SNV	0.0	1.0	-	-	-	-	-	-	-	COSM1224535	-	-	-	-	-	Sacsin-related ataxia|Spastic ataxia|Spastic ataxia, Charlevoix-Saguenay|Spastic paraplegia, non-ataxic, and peripheral neuropathy|Neuropathy, prominent sensorimotor|Muscular dystrophy, limb girdle|Cerebellar ataxia  |Ataxia, early-onset|Ataxia|ARSACS without leg spasticity 	COSMIC,COSMIC,
chrX	106169937	106169937	A	G	intronic	CLDN2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	homeostasis/metabolism phenotype	Pancreatitis, chronic	ICGC,
chr8	59988331	59988331	G	A	intronic	TOX	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	hematopoietic system phenotype	Pulmonary tuberculosis, association  with	ICGC,
chr20	23691332	23691332	C	T	intergenic	CST4,CST1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr12	2589010	2589010	C	T	intronic	CACNA1C	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17888080	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype	Timothy syndrome|Schizophrenia / bipolar disorder, assoc with |Schizophrenia  |Long QT syndrome.|Long QT syndrome|Early repolarization syndrome|Cardiomyopathy, hypertrophic.|Cardiomyopathy, hypertrophic|Cardiac arrhythmia|Brugada syndrome (shorter-than-normal QT interval)|Autism spectrum disorder	COSMIC,ICGC,
chr3	185533495	185533495	A	G	intronic	IGF2BP2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6757866	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr6	161293794	161293794	A	C	intergenic	PLG,MAP3K4	unknown	SNV	-	-	-	0.0005	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,mortality/aging	Plasminogen deficiency, severe type I|Plasminogen deficiency|Invasive aspergillosis, susceptibility|Haemolytic uraemic syndrome, atypical.|Haemolytic uraemic syndrome, atypical,-	ICGC,
chr4	21376309	21376309	C	T	intronic	KCNIP4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Renal cell carcinoma 	ICGC,
chr10	69764950	69764950	T	A	intronic	HERC4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	reproductive system phenotype	-	ICGC,
chr9	104857038	104857038	A	G	intergenic	GRIN3A,LINC00587	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	vision/eye phenotype,-	Schizophrenia, increased risk |Schizophrenia |Potential protein deficiency,-	ICGC,
chr7	85255108	85255108	T	G	intergenic	SEMA3D,GRM3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,behavior/neurological phenotype	Total anomalous pulmonary venous connection|Tetralogy of Fallot|Hirschsprung disease   ,Schizophrenia, association with|Major depressive disorder, association with	ICGC,
chr4	71342946	71342946	G	A	intronic	MUC7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	Atopic asthma, association with	ICGC,
chr8	83472751	83472751	T	A	intergenic	SNX16,LINC01419	unknown	SNV	-	-	-	-	rs28470674	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	ICGC,
chr7	47812474	47812474	C	T	intergenic	LINC00525,PKD1L1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,mortality/aging	-,Subarachnoid haemorrhage, association with	ICGC,
chr11	63065180	63065180	G	A	exonic	SLC22A10	nonsynonymous	SNV	0.102	0.494	-	-	-	-	-	-	-	COSM6393354	-	THCA-CN|1|50|0.02000	-	-	-	-	COSMIC,ICGC,
chr4	138262864	138262864	C	T	intergenic	LINC00613,PCDH18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,Intellectual disability  	ICGC,
chr14	20928416	20928416	G	A	exonic	TMEM55B	synonymous	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr1	189995553	189995553	C	T	intergenic	NONE,BRINP3	unknown	SNV	-	-	-	0.0014	rs531813329	-	0.00159744	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chrX	38869596	38869596	C	T	intergenic	MID1IP1,LINC01281	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	45304094	45304094	C	T	intergenic	GNPDA2,GABRG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chrX	29959849	29959849	G	A	exonic	IL1RAPL1	nonsynonymous	SNV	0.001	0.999	2.239e-05	-	rs372426735	2.279e-05	-	9.5e-05	-	COSM6435173	-	THCA-CN|1|50|0.02000	-	-	nervous system phenotype	Mental retardation, X-linked|Mental retardation with dysmorphic features|Mental retardation and autism|Intellectual disability, X-linked with dysmorphism|Intellectual disability, X-linked|Intellectual disability, dysmorphic signs, deafness & behavioural problems|Intellectual disability & behavioural problems|Developmental delay, learning disability & microcephaly|Autism spectrum disorder  |Asperger syndrome	COSMIC,COSMIC,ICGC,
chr3	71895219	71895219	T	A	intergenic	PROK2,LINC00877	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	nervous system phenotype,-	Anosmia, isolated congenital|GnRH deficiency |Hypogonadotropic hypogonadism|Kallmann syndrome,-	ICGC,
chr14	106237511	106237511	G	A	intergenic	ELK2AP,KIAA0125	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20088898	-	-	-	-	-,-	-,-	COSMIC,
chr2	107215303	107215303	G	A	intergenic	RGPD3,ST6GAL2	unknown	SNV	-	-	-	0.0002	rs546105104	-	0.000599042	-	-	COSN24096993	-	BRCA-FR|1|72|0.01389	-	-	-,-	-,-	COSMIC,ICGC,
chr8	134488052	134488052	G	T	exonic	ST3GAL1	synonymous	SNV	-	-	2.032e-05	3.23e-05	rs773682943	1.654e-05	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	hematopoietic system phenotype	-	ICGC,
chr11	7149956	7149959	TTGT	-	intergenic	RBMXL2,SYT9	unknown	deletion	-	-	-	0.1742	rs540395669	-	0.0698882	-	-	-	-	ESAD-UK|1|301|0.00332,PBCA-US|2|186|0.01075	-	-	-,-	Impaired spermatogenesis ,-	ICGC,
chrX	10450529	10450529	A	G	exonic	MID1	nonsynonymous	SNV	0.008	0.004	-	-	-	-	-	-	-	COSM1112372	UCEC|1|248|0.00403	UCEC-US|1|250|0.00400	-	-	mortality/aging	Penoscrotal hypospadias & hypertelorism|Opitz G/BBB syndrome|Intellectual and developmental disabilities|Hypospadias & hypertelorism|Hypospadias|Cardiac malformations|Autism spectrum disorder	COSMIC,TCGA,ICGC,
chr7	72164832	72164832	C	T	intronic	TYW1B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr21	18480483	18480483	-	A	intergenic	LINC00478,C21orf37	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	-,-	-,-	ICGC,
chr11	101297258	101297258	G	A	intergenic	LOC101054525,TRPC6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,integument phenotype	-,Steroid resistant nephrotic syndrome, association with|Pyloric stenosis, infantile hypertrophic, association with|Pulmonary arterial hypertension, association with|Podocytopathy|Nephrotic syndrome, steroid resistant |Focal segmental glomerulosclerosis |Collapsing glomerulosclerosis	ICGC,
chr2	199040150	199040150	T	C	intergenic	PLCL1,LOC101927619	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,-	-,-	ICGC,
chr12	43767214	43767214	G	A	intronic	ADAMTS20	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype	-	ICGC,
chr3	21719283	21719283	G	T	intronic	ZNF385D	unknown	SNV	-	-	-	0.0509	rs73040090	-	0.0543131	-	0.087	-	-	LAML-KR|1|205|0.00488	-	-	-	-	ICGC,
chr4	32501899	32501899	G	T	intergenic	PCDH7,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr13	83972743	83972743	T	C	intergenic	NONE,SLITRK1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Trichotillomania|Tourette syndrome|Obsessive-compulsive disorder |Attention deficit hyperactivity disorder 	ICGC,
chr5	549189	549189	C	G	intergenic	MIR4456,LOC100996325	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	14849044	14849044	G	C	intergenic	LOC653602,NBAS	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,Short stature, optic atrophy & Pelger-Huet 	ICGC,
chr18	63287982	63287982	C	A	intergenic	LOC284294,CDH7	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21385159	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr15	100318437	100318437	-	T	intergenic	LYSMD4,DNM1P46	unknown	insertion	-	-	-	3.229e-05	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr15	92119206	92119206	C	A	intergenic	LOC101926928,SLCO3A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	-,-	ICGC,
chr4	110028564	110028564	C	A	intronic	COL25A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-	Potential protein deficiency	ICGC,
chr12	3495106	3495106	-	TCCC	intronic	PRMT8	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|3|67|0.04478	-	-	immune system phenotype	-	ICGC,
chr2	166133692	166133692	C	A	intronic	SCN2A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-	Neonatal-infantile seizures, benign familial|Neonatal-infantile seizures|Neonatal epilepsy, late-onset ataxia, myoclonus & pain|Myoclonic epilepsy, borderline.|Myoclonic epilepsy of infancy.|Migrating focal seizures of infancy|Mental retardation, anxiety disorders & seizures|Ohtahara syndrome|Partial seizures of infancy, malignant migrating|Potential protein deficiency|Seizures, benign infantile|Seizures, benign infantile.|Seizures, intellectual disability, optic atrophy, muscular hypotonia and brain abnormalities|Spasms, infantile, and bitemporal glucose hypometabolism|West syndrome|West syndrome with hypotonia|Lennox-Gastaut syndrome |Intractable epilepsy and mental decline|Acute encephalitis with refractory, repetitive partial seizures|Autism |Autism spectrum disorder|Autistic features, developmental delay, mental retardation, language impairment & dysmorphic features|Autistic features, psychomotor delay & microcephaly|Dravet syndrome  |Epilepsy, idiopathic  |Epilepsy, idiopathic generalised |Epilepsy, infantile|Epileptic encephalopathy |Epileptic encephalopathy, early onset|Febrile and afebrile seizures|Infantile seizures, benign|Intellectual disability  |Intellectual disability, developmental delay, seizures & hypotonia|Intellectual disability, nonsyndromic	ICGC,
chr18	65758726	65758726	C	T	intergenic	LOC643542,TMX3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21318501	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr22	32729850	32729851	GA	-	intergenic	SLC5A4,RFPL3	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr21	32947531	32947531	C	T	intergenic	TIAM1,SOD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	cellular phenotype,mortality/aging	-,Motor neuron disease|Paraneoplastic motor neuron disease with anti-Ri antibodies|Parkinsonism, early-onset.|Reduced expression |REM behaviour disorder in amyotrophic lateral sclerosis.|Keratoconus|Facial onset sensory motor neuronopathy syndrome.|Facial diplegia, in amyotrophic lateral sclerosis|Amyotrophic lateral sclerosis|Amyotrophic lateral sclerosis and spinal muscular atrophy|Amyotrophic lateral sclerosis, atypical.|Amyotrophic lateral sclerosis, late onset, association with|Amyotrophic lateral sclerosis.	ICGC,
chr15	93706481	93706481	C	T	intergenic	RGMA,LOC101927153	unknown	SNV	-	-	-	0.1989	rs12903952	-	0.15615	-	0.130	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	Autism,-	ICGC,
chr2	163541108	163541108	A	T	intronic	KCNH7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	-	-	ICGC,
chr3	122845583	122845583	T	C	intronic	PDIA5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7815201	-	PACA-AU|1|391|0.00256	-	-	-	-	COSMIC,ICGC,
chr19	3231249	3231249	G	A	intronic	CELF5	unknown	SNV	-	-	-	9.682e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr3	107860284	107860284	G	A	intergenic	LINC01215,IFT57	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,-	ICGC,
chrX	47474542	47474542	A	T	intronic	SYN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	Potential protein deficiency|Epilepsy|Autism spectrum disorder|Autism / epilepsy	ICGC,
chr6	62726298	62726298	C	T	intronic	KHDRBS2	unknown	SNV	-	-	-	3.273e-05	-	-	-	-	-	COSN20992507	-	ESAD-UK|1|301|0.00332,SKCA-BR|1|100|0.01000,BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr6	105138923	105138923	C	T	intergenic	NONE,HACE1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,tumorigenesis	-,Wilms tumour 	ICGC,
chr3	152940339	152940339	C	G	intergenic	RAP2B,C3orf79	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr3	26296606	26296606	T	C	intergenic	LINC00692,LRRC3B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,nervous system phenotype	-,-	ICGC,
chr19	20795782	20795782	C	G	intergenic	ZNF737,ZNF626	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22354434	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,Potential protein deficiency	COSMIC,ICGC,
chr6	82573790	82573820	TTATGAAGTTGAGACTATGATTCTAAAACAC	-	intergenic	FAM46A,IBTK	unknown	deletion	-	-	-	0.1175	rs142087558	-	0.149161	-	-	COSN27469382	-	BTCA-SG|1|71|0.01408	-	-	-,hematopoietic system phenotype	Tuberculosis, susceptibility to ,-	COSMIC,ICGC,
chrX	139846909	139846909	C	T	ncRNA_intronic	LINC00632	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6490516	-	BTCA-SG|1|71|0.01408,LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr13	68496994	68496994	G	A	intergenic	PCDH9,LINC00550	unknown	SNV	-	-	-	0.0028	rs577384462	-	0.00159744	-	-	COSN5193473	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr9	19476011	19476011	G	A	intergenic	ACER2,SLC24A2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,vision/eye phenotype	-,Retinal disease	ICGC,
chr6	45047844	45047844	A	T	intronic	SUPT3H	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8797569	-	ESAD-UK|1|301|0.00332	-	-	-	46,XY gonadal dysgenesis	COSMIC,ICGC,
chr3	79172194	79172194	T	G	intronic	ROBO1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8368130	-	MALY-DE|1|241|0.00415	-	-	mortality/aging	Developmental dyslexia 	COSMIC,ICGC,
chrX	15582261	15582272	CCAAGTGTTGGC	-	exonic	ACE2	nonframeshift	deletion	-	-	-	-	-	-	-	-	-	COSM5547552	-	-	-	-	mortality/aging	-	COSMIC,
chr2	163346721	163346721	G	A	intronic	KCNH7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chrX	50052359	50052359	G	A	exonic	CCNB3	nonsynonymous	SNV	1.0	0.0	3.938e-05	9.283e-05	rs372451442	3.432e-05	-	9.5e-05	-	COSM1122624	-	LICA-CN|1|402|0.00249	-	-	-	-	COSMIC,COSMIC,ICGC,
chr17	11521944	11521944	G	A	intronic	DNAH9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Autism|Colorectal cancer, increased risk, association with|Schizophrenia  	ICGC,
chr8	108041479	108041479	T	A	intergenic	ABRA,ANGPT1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN18878224	-	-	-	-	cardiovascular system phenotype,mortality/aging	-,Stroke, reduced risk, association with	COSMIC,
chr2	47818167	47818167	G	A	intergenic	KCNK12,MSH6	unknown	SNV	-	-	-	0.0001	rs746091594	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Muir-Torre syndrome.|Muir-Torre syndrome|MMR deficiency|Mismatch repair defect |Lynch syndrome-associated breast cancer.|Increased risk of urothelial cancer in HNPCC patients|Impaired DNA repair |Multiple colorectal adenoma |Neurofibromatosis, type 1|Ovarian / endometrial carcinoma|Ovarian cancer |Ovarian carcinoma|Potential protein deficiency|Prostate cancer  |T-cell acute lymphoblastic lymphoma|Turcot syndrome|Endometrial cancer.|Endometrial cancer ?|Endometrial cancer|Breast cancer predisposition |Breast cancer, predisposition |Breast carcinoma|Cafe-au-lait, oligodendroglioma, rectal cancer|Cancer, hereditary|Colon cancer|Colon cancer, breast cancer, leukaemia|Colorectal / endometrial cancer|Colorectal cancer|CpG island methylator phenotype in colon cancer, association with|Constitutional mismatch repair-deficiency syndrome|Colorectal cancer.|Colorectal cancer, non-polyposis.|Colorectal cancer, non-polyposis|Colorectal cancer, early onset|Colorectal cancer, association with 	ICGC,
chr3	82228227	82228227	T	C	intergenic	GBE1,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15771142	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging,-	Potential protein deficiency|Polyglucosan body disease, relapsing-remitting form|Polyglucosan body disease, adult|Lethal multiple pterygium syndrome|Glycogen storage disease 4, non-lethal neuromuscular|Glycogen storage disease 4, neonatal|Glycogen storage disease 4|Autism spectrum disorder|Adult polyglucosan body disease,-	COSMIC,ICGC,
chr9	138856274	138856274	G	A	intergenic	UBAC1,NACC2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr12	91137925	91137925	C	T	intergenic	LINC00936,LINC00615	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chrX	31820285	31820286	TC	-	intronic	DMD	unknown	deletion	-	-	-	-	-	-	-	-	-	COSN23705072	-	ORCA-IN|1|178|0.00562	-	-	mortality/aging	Muscular dystrophy, Duchenne & Charcot-Marie-Tooth disease|Muscular dystrophy, Duchenne & autism|Muscular dystrophy, Duchenne|Muscular dystrophy, Becker.|Muscular dystrophy, Becker with cognitive impairment|Muscular dystrophy, Becker|Muscular dystrophy, Duchenne-like|Muscular dystrophy, Duchenne, epilepsy, macroglossia and mental retardation|Muscular dystrophy, Duchenne.|Muscular dystrophy, Duchenne/Becker|Muscular dystrophy, intermediate|Myopathy  |Potential protein deficiency|Schizophrenia|Muscular dystrophy, atypical|Muscular dystrophy & intellectual disability|Muscular dystrophy|Autism & neuromotor delay|Autism spectrum disorder|Behavioural issues|Cardiomyopathy, dilated|Cardiomyopathy, dilated, X-linked|Cardiomyopathy, dilated.|Dystrophinopathy|Elevated creatine kinase level|Mild Becker muscular dystrophy|Mental retardation, X-linked|Isolated cardiomyopathy|Increased serum creatine kinase levels|Global developmental delay/intellectual disability|Exertional myalgia, muscle stiffness & myoglobinuria	COSMIC,ICGC,
chr7	152679447	152679447	G	A	intergenic	ACTR3B,DPP6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,nervous system phenotype	-,Autism spectrum disorder  |Schizophrenia  |Ventricular fibrillation, idiopathic 	ICGC,
chr14	28184432	28184432	G	A	intergenic	LINC00645,FOXG1	unknown	SNV	-	-	-	6.46e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,West syndrome |Rett-like syndrome|Rett syndrome|Refractory epilepsy & intellectual impairment|Microcephaly, mental retardation & thin genu of corpus callosum|Mental retardation, speech impairment & epilepsy|Mental retardation & speech impairment|Mental retardation & postnatal microcephaly|Mental retardation & callosum abnormalities|Mental retardation|Infantile spasms|Hemifacial microsomia|Generalized dystonia, athetosis and parkinsonism|Developmental delay, microcephaly & hypoplasia of the corpus callosum|Developmental delay, hypotonia, microcephaly & infantile spasms|Developmental delay & slow head growth|Agenesis of corpus callosum	ICGC,
chr10	65703530	65703530	T	G	intergenic	REEP3,ANXA2P3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5820640	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr16	83684805	83684805	G	T	intronic	CDH13	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging	Higher adiponectin levels|Amyotrophic lateral sclerosis 	ICGC,
chrX	153121077	153121077	G	A	intergenic	PDZD4,L1CAM	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27918316	-	PRAD-CA|1|308|0.00325	-	-	normal phenotype,integument phenotype	-,X-linked leukodystrophy |Spastic paraplegia|Mental retardation, X-linked|Mental retardation  |MASA syndrome|L1 syndrome & diabetes insipidus, nephrogenic|L1 syndrome  |Hydrocephalus, X-linked with diabetes insipidus, nephrogenic|Epilepsy with cognitive impairment / autism spectrum disorder|Hirschsprung disease|Hirschsprung disease & hydrocephalus, X-linked  |Hydrocephalus, developmental delay and intellectual disability|Hydrocephalus, MASA|Hydrocephalus, X-linked	COSMIC,ICGC,
chr20	32985155	32985155	A	G	intronic	ITCH	unknown	SNV	-	-	-	0.5193	rs6087579	-	0.593051	-	0.551	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype	Syndromic multisystem autoimmune disease	ICGC,
chr5	4875676	4875676	T	C	intergenic	LOC101929153,LINC01020	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr4	151504398	151504398	G	A	exonic	MAB21L2	nonsynonymous	SNV	0.008	0.907	-	-	-	-	-	-	-	COSM3600852	SKCM|1|368|0.00272	SKCM-US|1|335|0.00299	-	-	mortality/aging	-	COSMIC,TCGA,ICGC,
chr2	212495236	212495236	C	T	exonic	ERBB4	nonsynonymous	SNV	0.063	0.996	-	-	rs866307465	-	-	-	-	COSM6876750	-	-	-	-	integument phenotype	Schizophrenia |Oligohydramnios|Intellectual disability, hyperactivity & speech developmental delay|Increased promoter activity|Hepatocellular carcinoma, increased risk, association with|Epileptic encephalopathy, early infantile 3|Breast and colorectal cancer, association with|Bipolar disorder, association with |Bipolar disorder |Autism spectrum disorder  |Amyotrophic lateral sclerosis type 19	COSMIC,COSMIC,
chr16	30081469	30081469	C	A	exonic	ALDOA	nonsynonymous	SNV	0.361	0.0	-	-	-	-	-	-	-	COSM5431712	-	ESCA-CN|1|332|0.00301	-	-	-	Metabolic myopathy / haemolysis|Autism|Aldolase A deficiency	COSMIC,ICGC,
chr18	51923722	51923722	G	T	intergenic	C18orf54,DYNAP	unknown	SNV	-	-	-	3.237e-05	rs181895961	-	0.000199681	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr1	242504784	242504784	A	C	intronic	PLD5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	-	ICGC,
chr6	67389217	67389217	A	G	intergenic	SLC25A51P1,BAI3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9911642	-	RECA-EU|1|422|0.00237	-	-	-,-	-,-	COSMIC,ICGC,
chr17	39778117	39778117	C	T	intronic	KRT17	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Steatocystoma multiplex|Pachyonychia congenita 2|Pachyonychia congenita 1|Pachyonychia congenita  |Pachonychia congenita with alopecia|Keratitis-ichthyosis-deafness syndrome, modifier of|Diabetes, MODY	ICGC,
chr1	41371777	41371777	-	CTTTATTT	intergenic	CITED4,CTPS1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	no phenotypic analysis,-	-,-	ICGC,
chr15	37292406	37292406	G	A	intronic	MEIS2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23511494	-	ESAD-UK|1|301|0.00332	-	-	-	Cleft palate & cardiac septum 	COSMIC,ICGC,
chr1	223514848	223514848	T	C	intronic	SUSD4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	-	ICGC,
chr5	164157155	164157155	G	T	intergenic	LOC102546299,NONE	unknown	SNV	-	-	-	0.0823	rs34561798	-	0.0415335	-	0.094	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr14	99332999	99332999	G	C	intergenic	C14orf177,BCL11B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15230309	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	-,-	COSMIC,ICGC,
chr8	14258925	14258925	T	G	intronic	SGCZ	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-	Cervical artery dissection	ICGC,
chr5	83603091	83603091	A	C	intronic	EDIL3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	immune system phenotype	Schizophrenia  	ICGC,
chr5	120291756	120291756	C	T	intergenic	PRR16,LOC102467226	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr12	24939809	24939809	C	G	intergenic	LINC00477,BCAT1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8706808	-	OV-AU|1|93|0.01075	-	-	-,-	-,Schizophrenia  	COSMIC,ICGC,
chr19	48276420	48276420	G	C	intergenic	GLTSCR2,SEPW1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	RECA-EU|1|422|0.00237	-	-	-,-	-,-	ICGC,
chr1	75622328	75622328	C	T	intronic	LHX8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Cleft lip 	ICGC,
chr9	112880483	112880483	-	AT	intronic	AKAP2,PALM2-AKAP2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	Kallmann syndrome & bone anomalies ,-	ICGC,
chr4	33711483	33711483	G	A	intergenic	NONE,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	94106328	94106328	G	A	intronic	MCTP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr9	85128204	85128204	G	A	intergenic	SPATA31D1,RASEF	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	ICGC,
chr6	147873567	147873567	T	C	intronic	SAMD5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr5	174839273	174839273	G	A	intergenic	FLJ16171,DRD1	unknown	SNV	-	-	-	0.0005	rs572550250	-	0.000199681	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Schizophrenia, association with.|Schizophrenia, association with  |Renal traits, association with|Reduced basal signalling|Psychotic symptoms and Aggressive behaviour, in Alzheimer disease, association with.|Psychosis and Aggression, in Alzheimer disease, association with.|Prophylactic lithium response in bipolar disorder, association with|Nicotine dependence, association with|Essential hypertension, association with|Bipolar disorder, association with	ICGC,
chr3	84988632	84988632	T	C	intergenic	LINC00971,CADM2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr13	76372368	76372368	T	C	intronic	LMO7	unknown	SNV	-	-	-	-	rs754047088	-	-	-	-	COSN5727068	-	LINC-JP|1|394|0.00254	-	-	integument phenotype	-	COSMIC,ICGC,
chr4	53446514	53446514	A	C	intergenic	SPATA18,USP46	unknown	SNV	-	-	-	0.1826	rs67540465	-	0.201677	-	0.203	-	-	LAML-KR|1|205|0.00488	-	-	-,behavior/neurological phenotype	-,Autism 	ICGC,
chr8	38536094	38536094	C	A	intergenic	RNF5P1,TACC1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2275150	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr8	54182519	54182519	G	T	intergenic	OPRK1,ATP6V1H	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	integument phenotype,-	Alcohol dependence, association with|Opiate addiction, association with ,Schizophrenia  	ICGC,
chr6	65741140	65741140	C	A	intronic	EYS	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Cone-rod dystrophy, autosomal recessive.|Leber congenital amaurosis|Retinitis pigmentosa|Retinitis pigmentosa, autosomal recessive |Retinitis pigmentosa, autosomal recessive/Leber congenital amaurosis	ICGC,
chrY	4901136	4901136	G	A	intronic	PCDH11Y	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-	-	ICGC,
chr4	88496846	88496846	T	C	intergenic	SPARCL1,DSPP	unknown	SNV	-	-	-	0.8331	rs11724253	-	0.789137	-	0.775	-	-	LAML-KR|1|205|0.00488	-	-	vision/eye phenotype,craniofacial phenotype	-,Dentinogenesis imperfecta type III|Dentinogenesis imperfecta type II|Dentinogenesis imperfecta type I|Dentinogenesis imperfecta Shields type II|Dentin dysplasia type II|Dental disorder, non-syndromic	ICGC,
chrX	107708339	107708339	A	G	intronic	COL4A5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5457693	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging	Microhaematuria and thin basement membrane nephropathy.|Glomerulopathy, X-linked|Deafness  |Collagen IV nephropathy|Benign haematuria|Alport syndrome, X-linked|Alport syndrome, oesophageal leiomyomatosis|Alport syndrome, diffuse leiomyomatosis|Alport syndrome	COSMIC,ICGC,
chr19	22931123	22931123	G	A	intergenic	ZNF492,ZNF99	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Potential protein deficiency	ICGC,
chr10	135449758	135449758	C	-	intergenic	FRG2B,DUX4L3	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	PRAD-UK|1|140|0.00714	-	-	-,-	-,-	ICGC,
chr3	96116401	96116401	C	G	intergenic	MIR8060,EPHA6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,behavior/neurological phenotype	-,Alzheimer disease  	ICGC,
chr18	5405540	5405540	G	A	intronic	EPB41L3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging	Potential protein deficiency	ICGC,
chr9	95744550	95744550	T	C	intronic	FGD3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19290995	-	CLLE-ES|1|510|0.00196	-	-	-	Autism	COSMIC,ICGC,
chr1	237356101	237356101	A	G	intronic	RYR2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16337223	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging	Long QT syndrome|Sudden cardiac death|Sudden cardiac death.|Sudden infant death syndrome|Sudden unexplained death  |Ventricular arrhythmia, in chronic heart failure, association with.|Ventricular tachycardia, polymorphic|Left ventricular noncompaction  |Left ventricular non-compaction.|Catecholaminergic polymorphic ventricular tachycardia.|Catecholaminergic polymorphic ventricular tachycardia|Cardiac arrhythmia|Arrhythmogenic right ventricular dysplasia/cardiomyopathy|Arrhythmogenic right ventricular dysplasia type 2|Arrhythmogenic right ventricular cardiomyopathy, association with|Arrhythmogenic right ventricular cardiomyopathy|Altered channel function	COSMIC,ICGC,
chr22	21080491	21080491	C	A	intronic	PI4KA	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27822258	-	UTCA-FR|1|20|0.05000	-	-	integument phenotype	-	COSMIC,COSMIC,ICGC,
chr7	152566183	152566183	G	A	intergenic	ACTR3B,DPP6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,nervous system phenotype	-,Autism spectrum disorder  |Schizophrenia  |Ventricular fibrillation, idiopathic 	ICGC,
chr3	122052396	122052396	-	AGAAAGAA	intronic	CSTA	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	Psoriasis, association with|Exfoliative ichthyosis|Atopic dermatitis, reduced risk, association with|Acral peeling skin syndrome	ICGC,
chr15	20113297	20113297	C	T	intergenic	NONE,CHEK2P2	unknown	SNV	-	-	-	0.0878	rs74351262	-	-	-	-	-	-	LAML-KR|1|205|0.00488	-	-	-,-	-,-	ICGC,
chr21	20360105	20360105	G	A	intergenic	LOC101927797,LINC00320	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15950935	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	COSMIC,ICGC,
chr5	18200222	18200222	A	G	intergenic	LOC401177,CDH18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	-,Anorectal malformation	ICGC,
chr1	169600159	169600159	G	A	upstream	SELP	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	integument phenotype	Spontaneous abortion, recurrent, association with|Primary VF during acute MI, association|Potential protein deficiency|P-Selectin levels, association with|Myocardial infarction, lower risk, association|Low levels of P-selectin, association with|Incident coronary heart disease, increased risk in whites|Higher platelet SELP measures|Cell surface measures of SELP|Atopy, increased risk, association with	ICGC,
chr4	174451697	174451697	T	A	ncRNA_exonic	HAND2-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6578943	-	PBCA-DE|1|499|0.00200	-	-	-	-	COSMIC,ICGC,
chr8	111106970	111106970	-	T	intergenic	KCNV1,NONE	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN22774077	-	-	-	-	behavior/neurological phenotype,-	-,-	COSMIC,
chr5	8076827	8076827	C	T	intergenic	MTRR,LOC729506	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	growth/size phenotype,-	Increased serum methylmalonic acid levels, association with|Methionine synthase reductase deficiency|Pancreatic cancer, increased risk, association with|Spina bifida, increased risk in offspring, association|Temporomandibular disorder, association with|Homocystinuria.|Homocystinuria, cblE type|Altered activity|Colon cancer, sporadic, reduced risk|Coronary artery disease, association with|Coronary heart disease, increased risk, association with  |Homocystinuria,-	ICGC,
chr13	53427981	53427981	A	G	intergenic	PCDH8,OLFM4	unknown	SNV	-	-	-	3.229e-05	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	normal phenotype,hematopoietic system phenotype	-,Potential protein deficiency	ICGC,
chr3	95414993	95414993	G	A	intergenic	MTHFD2P1,MIR8060	unknown	SNV	-	-	-	0.0002	rs768703028	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-,-	-,-	ICGC,
chr2	181977391	181977391	T	-	intergenic	UBE2E3,MIR4437	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr15	71579706	71579706	C	T	intronic	THSD4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr20	7713966	7713966	A	G	intergenic	MIR8062,HAO1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr9	128657411	128657411	T	G	intronic	PBX3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype	Congenital heart defects	ICGC,
chr2	89974733	89974733	C	T	intergenic	MIR4436A,LOC654342	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr10	57820877	57820877	G	A	intergenic	MTRNR2L5,ZWINT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	35858652	35858652	A	-	intronic	ZMYM4	unknown	deletion	-	-	-	9.757e-05	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312,BRCA-EU|1|569|0.00176	-	-	-	-	ICGC,
chrX	63709716	63709716	T	G	intergenic	MTMR8,ZC4H2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	Autism spectrum disorder,Arthrogryposis multiplex congenita and intellectual disability	ICGC,
chr1	175710034	175710034	C	A	intronic	TNR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	nervous system phenotype	Schizophrenia, association with  |Intellectual disability  	ICGC,
chr9	11773409	11773409	C	T	intergenic	PTPRD-AS2,TYRP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,integument phenotype	-,Albinism, oculocutaneous  |Albinism, oculocutaneous 3|Melanesian blond hair	ICGC,
chr12	39246511	39246511	G	A	intronic	CPNE8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr12	6839854	6839854	C	T	exonic	COPS7A	nonsynonymous	SNV	0.013	0.793	-	-	-	-	-	-	-	-	COAD|1|367|0.00272,COADREAD|1|489|0.00204	-	-	-	-	-	TCGA,
chr8	49299170	49299170	C	T	intergenic	UBE2V2,LOC101929268	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr20	6802880	6802880	C	T	intergenic	BMP2,LINC01428	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Wolff-Parkinson-White syndrome|Wolff-Parkinson-White & Alagille syndrome|Thymoma and autoimmune disease |Reduced fat and increased muscle mass, association with|Orofacial cleft palate|Decreased mRNA stability|Colorectal cancer, increased risk, association with|Cleft palate  |Brachydactyly type A2|Bone mass, association with ,-	ICGC,
chr12	114111741	114111741	C	T	intergenic	LHX5,LINC01234	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	-,-	ICGC,
chr8	91716611	91716611	C	T	intergenic	TMEM64,NECAB1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr11	41590936	41590936	G	C	intergenic	LRRC4C,LOC102723644	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr12	81892256	81892256	T	C	intronic	PPFIA2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr5	98596680	98596680	G	A	intergenic	LOC100289230,CTD-2151A2.1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr10	1255216	1255216	C	G	intronic	ADARB2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-	-	ICGC,
chr4	78471905	78471905	T	C	intronic	CXCL13	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9242014	-	OV-AU|1|93|0.01075	-	-	hematopoietic system phenotype	-	COSMIC,ICGC,
chr8	110727674	110727674	G	A	intergenic	SYBU,KCNV1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,behavior/neurological phenotype	-,-	ICGC,
chr1	224762485	224762485	A	G	intergenic	WDR26,CNIH3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	ICGC,
chr11	123217668	123217668	T	C	intergenic	CLMP,MIR4493	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1517016	-	LIRI-JP|1|258|0.00388	-	-	-,-	Congenital short-bowel syndrome|Obesity ,-	COSMIC,ICGC,
chr10	110115360	110115360	C	G	intergenic	SORCS1,RNU6-53P	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25457039	-	MALY-DE|1|241|0.00415	-	-	other phenotype,-	Autism ,-	COSMIC,ICGC,
chr4	34975322	34975322	A	T	intergenic	NONE,ARAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr12	130901200	130901200	T	C	intronic	RIMBP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr2	177835091	177835091	C	T	intergenic	LOC102724224,HNRNPA3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr10	28173507	28173507	C	T	intronic	ARMC4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	Primary ciliary dyskinesia  	ICGC,
chr2	56389088	56389088	C	A	intergenic	MIR216B,CCDC85A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	RECA-EU|1|422|0.00237	-	-	-,-	-,-	ICGC,
chr10	128204470	128204470	A	T	intronic	C10orf90	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	-	ICGC,
chr6	22793410	22793410	-	A	intergenic	HDGFL1,NRSN1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	ICGC,
chr8	117792214	117792214	G	T	intergenic	UTP23,RAD21	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15213511	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,Cornelia de Lange-like syndrome	COSMIC,ICGC,
chr17	4314367	4314367	T	C	intergenic	UBE2G1,SPNS3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	UTCA-FR|1|20|0.05000	-	-	-,-	-,-	ICGC,
chr17	75310262	75310262	A	T	intronic	SEPT9	unknown	SNV	-	-	-	0.0006	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588,MELA-AU|1|183|0.00546	-	-	-	Amyotrophy, neuralgic|Neuritis with brachial predilection, NAPB	ICGC,
chr13	66309255	66309255	A	C	intergenic	OR7E156P,PCDH9	unknown	SNV	-	-	-	6.482e-05	rs184969628	-	0.000399361	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr4	187836681	187836681	G	C	intergenic	FAT1,LOC339975	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Autism,-	ICGC,
chrX	85784361	85784361	T	C	intronic	DACH2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16915528	-	PACA-CA|1|268|0.00373	-	-	normal phenotype	-	COSMIC,ICGC,
chr16	59633966	59633966	G	A	intergenic	GOT2,APOOP5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	198214901	198214901	G	A	intergenic	ANKRD44,SF3B1	unknown	SNV	-	-	-	0.0025	rs193108056	-	0.00199681	-	-	COSN21596640	-	BRCA-EU|1|569|0.00176	-	-	-,mortality/aging	Saccular intracranial aneurysm, association with,-	COSMIC,ICGC,
chr12	133801447	133801447	G	A	intronic	ANHX	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr10	131024963	131024963	-	GT	intergenic	LINC01163,MGMT	unknown	insertion	-	-	-	3.277e-05	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,mortality/aging	-,MGMT methylation in malignant pleural mesothelioma, association with|Non-Hodgkin lymphoma, increased risk|Pancreatic cancer, increased risk, association with|Promoter methylation and longer survival in glioblastoma patients, association with|Promoter methylation in colorectal cancer |MGMT methylation in lung cancer, increased risk, association with|MGMT methylation in colorectal cancer, association with|Lung cancer, risk, association with|Glioblastoma, reduced risk, association with |Endometrial cancer risk, association with|Cervical carcinoma, increased risk, association with|Cancer, increased risk|Altered enzyme activity	ICGC,
chr7	140031616	140031616	C	T	intergenic	JHDM1D-AS1,SLC37A3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22013163	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,Hyperinsulism	COSMIC,ICGC,
chr10	73423772	73423772	A	G	intronic	CDH23	unknown	SNV	-	-	-	0.2632	rs9415029	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,PBCA-DE|1|499|0.00200	-	-	integument phenotype	Usher syndrome 2|Usher syndrome 1d|Usher syndrome 1, modifier of|Usher syndrome 1|Usher syndrome  |Sensorineural hearing loss, nonsyndromic|Retinitis pigmentosa, autosomal recessive ?|Non-syndromic autosomal recessive deafness|Hearing loss, nonsyndromic|Hearing loss, non-syndromic|Deafness, nonsyndromic  |Deafness, non-syndromic |Deafness, autosomal recessive 12 |Deafness  	ICGC,
chr1	226363031	226363031	G	A	intronic	ACBD3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr17	13602700	13602700	C	G	intergenic	HS3ST3A1,CDRT15P1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17346394	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chrX	135379016	135379016	T	A	intergenic	MAP7D3,GPR112	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	Autism spectrum disorder|Potential protein deficiency,Autism spectrum disorder	ICGC,
chr10	130798137	130798137	A	T	intergenic	LINC01163,MGMT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,MGMT methylation in malignant pleural mesothelioma, association with|Non-Hodgkin lymphoma, increased risk|Pancreatic cancer, increased risk, association with|Promoter methylation and longer survival in glioblastoma patients, association with|Promoter methylation in colorectal cancer |MGMT methylation in lung cancer, increased risk, association with|MGMT methylation in colorectal cancer, association with|Lung cancer, risk, association with|Glioblastoma, reduced risk, association with |Endometrial cancer risk, association with|Cervical carcinoma, increased risk, association with|Cancer, increased risk|Altered enzyme activity	ICGC,
chr4	12557464	12557464	A	G	intergenic	HS3ST1,RAB28	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7729828	-	PACA-AU|1|391|0.00256	-	-	mortality/aging,-	-,Breast cancer risk, association with |Cone-rod dystrophy, autosomal recessive	COSMIC,ICGC,
chr1	149147158	149147158	C	T	intergenic	NBPF25P,LOC388692	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr11	112001522	112001522	G	A	intergenic	SDHD,IL18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	mortality/aging,hematopoietic system phenotype	Paraganglioma, sympathetic head & neck|Paraganglioma.|Paraganglioma/phaeochromocytoma|Phaeochromocytoma|Phaeochromocytoma.|Pheochromocytoma|Renal cell carcinoma.|Paraganglioma and phaeochromocytoma|Paraganglioma & adenoma|Carney Stratakis syndrome.|Cowden-like syndrome|Encephalomyopathy & isolated mitochondrial complex II deficiency|Gastrointestinal tumour, stromal|Head and neck tumours|Multiple endocrine neoplasia 2A, association with|Paraganglioma,Ischaemic stroke, association with|Ischaemic stroke, in large artery atherosclerosis patients, association with|Kawasaki disease susceptibility, association with|Lung cancer, association with|Natural rubber latex asthma, in health care workers, association with.|Not associated with pulmonary tuberculosis|Systemic lupus erythematosus, association with|Urticaria, aspirin-induced, association with|IL18 production, association with|IL18 levels and CAD risk|HIV infection, reduced risk, association with|Hepatocellular carcinoma, in hepatitis B infection, association with|Hepatitis C clearance, association with|Fistulas in CARD15 mutation negative individuals, association|Colonic disease in CARD15 mutation positive individuals, association|Chronic hepatitis B, association with|Bronchial asthma, severity, association with|Alzheimer disease risk	ICGC,
chr10	121832640	121832640	C	T	intergenic	MIR4682,PPAPDC1A	unknown	SNV	-	-	-	7.27e-05	rs369847459	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr15	85148867	85148867	G	C	intronic	ZSCAN2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26013242	-	ESAD-UK|1|301|0.00332	-	-	-	-	COSMIC,COSMIC,COSMIC,ICGC,
chr2	50113636	50113636	G	A	intergenic	FSHR,NRXN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,mortality/aging	Ovarian hyperstimulation syndrome|Ovarian hyperstimulation syndrome, association with|PCOS, association|PCOS, association with|Poor ovarian response to gonadotrophin stimulation, association|Premature ovarian failure|Premature ovarian failure, association with|Premature ovarian failure, early-onset|Primary amenorrhea|Reduced mRNA and protein expression, association with|Secondary amenorrhea|Serum FSH levels, association with|Sterility|Twinning, dizygotic|Ovarian hyperstimulation response, association with|Ovarian cancer, association with|Ovarian cancer susceptibility, association with|Decr. total testes volume and altered serum reproductive hormone levels, in men, association with.|Decreased promoter activity|Endometriosis risk, association with|Endometriosis, risk, association with|FSHR activation|FSHR inactivation|Hormone levels in PCOS, association with|Hypergonadotropic hypogonadism|Menstrual cycle, length, association with|Lower basal FSH level, association with|Increased serum FSH levels, association with|Increased promoter activity|Hypertension, female, association with|Hypergonadotropic ovarian failure,Hypotonia|Hypotonia & encephalopathy|Increased white matter volume, association with|Intellectual disability  |Intellectual disability & attention deficit hyperactivity disorder|Intellectual disability & hearing loss|Intellectual disability & pervasive developmental disorder|Intellectual disability and autism|Intellectual disability, nonsyndromic |Intellectual disability, seizures, dysmorphisms & language delay|Growth retardation  |Epilepsy, myoclonic seizures & speech delay|Developmental disorder|Developmental disorder & attention deficit hyperactivity disorder|Developmental disorder, seizures & attention deficit hyperactivity disorder|Developmental/intellectual disability, hypotonia & dysmorphic features|Disorder of muscle, ligament & fascia|Encephalopathy  |Epilepsy  |Epilepsy with cognitive impairment / autism spectrum disorder|Epilepsy with focal seizures|Epilepsy, generalised |Intellectual disability, seizures, language delay & hypotonia|Language delay|Learning difficulties|Respiratory distress & sepsis|Respiratory distress syndrome|Schizophrenia |Schizophrenia, childhood onset |Schizophrenia, disorganised type|Seizures, generalized tonic-clonic & attention deficit hyperactivity disorder|Sensory integration disorder & attention deficit hyperactivity disorder|Speech delay & social communication difficulties|Tourette syndrome|Pervasive developmental disorder / hypotonia|Pervasive developmental disorder|Pervasive developmental delay / mental retardation, lack of coordination & hearing loss|Learning difficulties, ADHD & autism|Mental retardation|Mental retardation, autism, vertebral malformations|Mental retardation, Pitt-Hopkins-like|Microcephaly & mental retardation|Multiple congenital anomalies  |Multiple disabilities|Myoclonic epilepsy   |Neurodevelopmental disorder  |Vertebral anomalies|Developmental delay, speech delay & social communication difficulties|Attention deficit hyperactivity disorder |Autism spectrum disorder, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability & language delay|Autism spectrum disorder, intellectual disability, dysmorphisms, developmental delay & language delay|Autism spectrum disorder, intellectual disability, seizures & developmental delay|Autism spectrum disorder, intellectual disability, seizures, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability, seizures, dysmorphisms & language delay|Autism spectrum disorder, seizures, developmental delay & language delay|Autism, intellectual disability & attention deficit hyperactivity disorder|Autistic disorder|Autism spectrum disorder with developmental & speech delay|Autism spectrum disorder & seizures|Autism spectrum disorder & language delay|Autism |Autism & learning difficulties|Autism & mental retardation|Autism & seizures|Autism spectrum disorder|Autism spectrum disorder & attention deficit hyperactivity disorder|Autism spectrum disorder & developmental delay|Autism spectrum disorder & dysmorphic features|Autism spectrum disorder & intellectual disability|Behavioural problems|Congenital heart defect  |Craniofacial dysmorphism|Developmental delay & speech/motor delay|Developmental delay with early-onset epilepsy|Developmental delay, dysmorphic features & short stature|Developmental delay, epilepsy, autism|Developmental delay, language delay & hypotonia|Developmental delay, learning difficulties, ADHD|Developmental delay, microcephaly & behavioural problems|Developmental delay, pulmonic stenosis & autism spectrum disorder|Developmental delay, short stature and diaphragmatic hernia|Developmental delay, speech delay & microcephaly|Developmental delay & seizures|Developmental delay & seizure disorder|Cystic hygroma, hydrops & micrognathia|Cystic hygroma, shortened upper limbs & fetal demise|Developmental & speech delay|Developmental delay|Developmental delay / autism|Developmental delay & autism|Developmental delay & dysmorphic features|Developmental delay & epilepsy|Developmental delay & hypotonia|Developmental delay & multiple congenital anomalies	ICGC,
chr20	606210	606210	G	A	intergenic	TCF15,SRXN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	-,-	ICGC,
chr14	43748040	43748040	C	T	intergenic	LRFN5,FSCB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	Short stature|Developmental delay, seizures & learning problems ,Tourette syndrome 	ICGC,
chr8	51382775	51382775	C	T	intronic	SNTG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Autism|Intellectual disability, cleft palate, hearing loss and dysmorphisms	ICGC,
chr5	86288507	86288507	C	T	intergenic	LOC100505878,MIR4280	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr7	24266346	24266346	G	A	intergenic	STK31,NPY	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|3|183|0.01639	-	-	-,skeleton phenotype	-,Major depressive disorder, association with|Metabolic syndrome in coronary artery disease, association with|Schizophrenia, association with|Serum leptin levels, and waist-hip ratio, in women, association with.|Hypertension, association with|Huntington disease, age at onset, association with|Elevated plasma LDL, association with|Diabetes, type II,  in middle-aged subjects, association with|Coronary artery disease, association with|Altered response to growth factors, association with|Alcohol dependence, association with|Stress response	ICGC,
chr3	148653871	148653871	C	G	intergenic	CPA3,GYG1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21954230	-	BRCA-UK|1|141|0.00709,BRCA-EU|1|569|0.00176	-	-	mortality/aging,-	-,Glycogenin 1 deficiency	COSMIC,ICGC,
chr7	154224979	154224979	A	C	intronic	DPP6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	nervous system phenotype	Autism spectrum disorder  |Schizophrenia  |Ventricular fibrillation, idiopathic 	ICGC,
chrX	133417351	133417351	A	C	intergenic	CCDC160,PHF6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	cardiovascular system phenotype,-	-,Borjeson-Forssman-Lehmann syndrome|Coffin-Siris syndrome|Intellectual disability & Coffin-Siris-like syndrome	ICGC,
chr11	62875185	62875185	C	G	intronic	SLC22A24	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5916269	-	LIRI-JP|1|258|0.00388	-	-	-	Potential protein deficiency	COSMIC,ICGC,
chr5	135731330	135731330	C	T	intergenic	TRPC7,SPOCK1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	vision/eye phenotype,normal phenotype	-,Developmental delay & microcephaly	ICGC,
chr16	86683314	86683314	C	T	intergenic	FOXL1,LOC101928708	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Hypoplastic left heart syndrome,-	ICGC,
chr2	172207413	172207413	T	C	intronic	METTL8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	Potential protein deficiency	ICGC,
chr10	39100484	39100484	T	A	intergenic	ACTR3BP5,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	-,-	ICGC,
chrX	146038885	146038885	G	A	intergenic	CXorf51A,MIR506	unknown	SNV	-	-	-	4.794e-05	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	ICGC,
chr5	151976373	151976373	G	A	intergenic	NMUR2,LOC101927134	unknown	SNV	-	-	-	3.234e-05	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	integument phenotype,-	-,-	ICGC,
chr14	62477586	62477586	C	T	intronic	SYT16	unknown	SNV	-	-	-	0.0002	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr1	219463484	219463484	G	A	intergenic	LYPLAL1,RNU5F-1	unknown	SNV	-	-	-	0.1319	rs17005229	-	0.164337	-	0.188	-	-	ESAD-UK|2|301|0.00664	-	-	-,-	Cirrhosis, nonalcoholic steatohepatitis-related,-	ICGC,
chr16	10730483	10730494	AATCTCTAAGCC	-	intronic	TEKT5	unknown	deletion	-	-	-	0.1262	rs144143836	-	0.167133	-	0.007	COSN27281769	-	BTCA-SG|1|71|0.01408	-	-	-	-	COSMIC,ICGC,
chr7	20527297	20527297	A	T	intergenic	ITGB8,ABCB5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20307888	-	PAEN-AU|1|52|0.01923	-	-	mortality/aging,-	-,Autism spectrum disorder	COSMIC,ICGC,
chr1	87695345	87695345	T	-	intronic	LOC101927844	unknown	deletion	-	-	-	-	-	-	-	-	0.442	-	-	LMS-FR|1|67|0.01493	-	-	-	-	ICGC,
chr11	102398334	102398334	C	A	exonic	MMP7	nonsynonymous	SNV	0.066	0.3	-	-	-	-	-	-	-	-	SARC|1|247|0.00405	-	-	-	mortality/aging	Vulnerable carotid plaque, association with|Smaller reference luminal diameter, association|Liver cirrhosis, association with|Cancer, increased risk, in East Asians, association with.|Cancer, increased risk|Breast cancer, reduced risk, association with|Astrocytoma, association with	TCGA,
chr4	111956626	111956626	G	A	intergenic	PITX2,C4orf32	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Ring dermoid of the cornea|Rieger syndrome|Peter anomaly|Omphalocele, association with |Omphalocele|Iris hypoplasia|Iridogoniodysgenesis syndrome|Craniofacial/acallosal CNS midline defects|Axenfeld-Rieger syndrome|Anterior segment dysgenesis,-	ICGC,
chr10	121474117	121474117	C	T	intergenic	BAG3,INPP5F	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	integument phenotype,cardiovascular system phenotype	Myofibrillar myopathy|Giant axonal neuropathy.|Cardiomyopathy, peripartum/dilated|Cardiomyopathy, dilated, reduced risk|Cardiomyopathy, dilated, increased risk|Cardiomyopathy, dilated,-	ICGC,
chr7	128490963	128490963	G	T	exonic	FLNC	nonsynonymous	SNV	0.208	0.0	-	-	-	-	-	-	-	COSM1085378	UCEC|1|248|0.00403	UCEC-US|1|250|0.00400	-	-	integument phenotype	Arrhythmia & myofibrillar myopathy, late-onset|Distal myopathy|Muscular dystrophy, limb-girdle|Myopathy, myofibrillar	COSMIC,TCGA,ICGC,
chr5	107759164	107759164	G	C	intergenic	FBXL17,LINC01023	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21194035	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chrX	62079068	62079068	G	A	intergenic	NONE,SPIN4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-,-	-,-	ICGC,
chr19	5873289	5873289	C	T	intergenic	FUT5,NDUFA11	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Mitochondrial complex I deficiency	ICGC,
chr17	79832875	79832875	C	T	intergenic	ARHGDIA,ALYREF	unknown	SNV	-	-	-	0.1297	rs112680942	-	0.0944489	-	0.116	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	Nephrotic syndrome,-	ICGC,
chr22	33253935	33253935	G	T	intronic	SYN3,TIMP3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	cellular phenotype,integument phenotype	Schizophrenia, association with ,Breast cancer, non-BRCA1/BRCA2 related|Fundus dystrophy, Sorsby	ICGC,
chr8	79893263	79893263	G	C	intergenic	IL7,STMN2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype,-	Increased expression,-	ICGC,
chr5	155695610	155695610	-	CCTT	intergenic	KIF4B,SGCD	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,mortality/aging	-,Muscular dystrophy, limb girdle 2F|Muscular dystrophy, limb girdle 2 |Muscular dystrophy, limb girdle|Cardiomyopathy, dilated|Anorectal malformation	ICGC,
chr6	91992205	91992205	T	G	intergenic	MAP3K7,MIR4643	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	-,-	ICGC,
chr15	73143686	73143686	T	G	intergenic	ADPGK-AS1,NEO1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,integument phenotype	-,-	ICGC,
chr1	188298941	188298941	T	C	intergenic	PLA2G4A,BRINP3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Asthma, association with|Cryptogenic multifocal ulcerating stenosing enteritis|Increased enzyme activity|Prostanoid biosynthesis deficiency,-	ICGC,
chr5	50555398	50555398	C	G	intergenic	LOC100287592,LOC642366	unknown	SNV	-	-	-	0.3282	rs7711230	-	0.301118	-	0.348	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr2	126473974	126473974	G	T	intergenic	CNTNAP5,GYPC	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24268794	-	BRCA-FR|1|72|0.01389	-	-	-,-	Autism,Glycophorin C variant|Gerbich-negative blood group|Elliptocytosis|Duch blood group	COSMIC,ICGC,
chr8	67281204	67281204	A	G	intergenic	LINC00967,RRS1-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr12	72849948	72849957	CACACACACA	-	intronic	TRHDE	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	no phenotypic analysis	-	ICGC,
chr14	53923884	53923884	A	G	intergenic	LOC101927620,MIR5580	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr6	83518227	83518227	C	T	intergenic	TPBG,UBE3D	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	mortality/aging,-	-,-	ICGC,
chr13	86515778	86515779	GA	-	intergenic	SLITRK6,MIR4500HG	unknown	deletion	-	-	-	0	-	-	-	-	0.007	-	-	ESAD-UK|1|301|0.00332	-	-	behavior/neurological phenotype,-	High myopia and sensorineural deafness,-	ICGC,
chr5	40594758	40594758	A	G	intergenic	LINC00603,PTGER4	unknown	SNV	-	-	-	0.8479	rs9292783	-	0.773363	-	0.833	-	-	ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488	-	-	-,integument phenotype	-,Crohn's disease, association with 	ICGC,
chr5	30205117	30205117	C	T	intergenic	LOC101929681,CDH6	unknown	SNV	-	-	-	3.229e-05	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,renal/urinary system phenotype	-,-	ICGC,
chr3	191945408	191945408	T	C	intronic	FGF12	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	-	ICGC,
chr18	71099511	71099511	A	C	intergenic	LOC100505817,FBXO15	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15119473	-	ESAD-UK|1|301|0.00332	-	-	-,normal phenotype	-,-	COSMIC,ICGC,
chrX	83754548	83754548	G	A	intronic	HDX	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	normal phenotype	Premature ovarian failure |Mental retardation, X-linked	ICGC,
chr18	45371652	45371652	G	C	intronic	SMAD2	unknown	SNV	-	0.0	-	-	-	-	-	-	-	-	BLCA|1|396|0.00253	-	-	-	integument phenotype	Congenital heart defects |Congenital heart disease 	TCGA,
chr12	110475968	110475968	A	T	UTR3	ANKRD13A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5930088	-	LIRI-JP|1|258|0.00388	-	-	skeleton phenotype	-	COSMIC,ICGC,
chr8	20824569	20824569	G	A	intergenic	LZTS1-AS1,LOC286114	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2269367	-	BRCA-EU|1|569|0.00176,LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr18	35755559	35755559	G	T	intergenic	MIR4318,LINC00669	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr6	41199521	41199521	G	A	intronic	TREML4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	immune system phenotype	-	ICGC,
chr3	19474638	19474638	C	G	intronic	KCNH8	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23549826	-	ESAD-UK|1|301|0.00332	-	-	-	-	COSMIC,ICGC,
chr11	112189308	112189308	T	G	intergenic	PLET1,LOC101928823	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1514036	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr5	130301104	130301104	G	A	intergenic	CHSY3,HINT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,cellular phenotype	-,Axonal neuropathy with neuromyotonia	ICGC,
chr4	100349293	100349293	C	A	exonic	ADH7	stopgain	SNV	-	-	4.069e-06	-	rs769616843	8.254e-06	-	-	-	COSM1594159	UCEC|1|248|0.00403	UCEC-US|1|250|0.00400	-	-	mortality/aging	Upper aerodigestive tract cancer, increased risk, association wit|Squamous cell carcinoma of the head and neck, reduced risk, assoc	COSMIC,COSMIC,TCGA,ICGC,
chr3	80333994	80333994	C	T	intergenic	ROBO1,GBE1	unknown	SNV	-	-	-	3.237e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,mortality/aging	Developmental dyslexia ,Potential protein deficiency|Polyglucosan body disease, relapsing-remitting form|Polyglucosan body disease, adult|Lethal multiple pterygium syndrome|Glycogen storage disease 4, non-lethal neuromuscular|Glycogen storage disease 4, neonatal|Glycogen storage disease 4|Autism spectrum disorder|Adult polyglucosan body disease	ICGC,
chr2	212359597	212359597	G	T	intronic	ERBB4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	integument phenotype	Schizophrenia |Oligohydramnios|Intellectual disability, hyperactivity & speech developmental delay|Increased promoter activity|Hepatocellular carcinoma, increased risk, association with|Epileptic encephalopathy, early infantile 3|Breast and colorectal cancer, association with|Bipolar disorder, association with |Bipolar disorder |Autism spectrum disorder  |Amyotrophic lateral sclerosis type 19	ICGC,
chr13	97299574	97299574	C	T	intronic	HS6ST3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr6	124661508	124661508	C	T	intronic	NKAIN2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-	Developmental delay and recurrent infection|Various neurological abnormalities	ICGC,
chrX	127675906	127675906	C	T	intergenic	ACTRT1,SMARCA1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,behavior/neurological phenotype	-,-	ICGC,
chr5	29486335	29486335	C	A	intergenic	LOC101929681,CDH6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,renal/urinary system phenotype	-,-	ICGC,
chr7	146268406	146268406	A	T	intronic	CNTNAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Gilles de la Tourette syndrome|Intellectual disability  |Learning disability & speech problems|Mental retardation |Mental retardation, Pitt-Hopkins-like|Multiple congenital anomalies  |Seizures, neonatal |Speech delay  |Stuttering |Epileptic encephalopathy  |Epilepsy and schizophrenia|Autism|Autism spectrum disorder |Autism spectrum disorder, modifier of|Childhood apraxia of speech|Cortical dysplasia-focal epilepsy syndrome|Developmental and/or speech and/or behavioural problems|Developmental delay  |Developmental delay & dysmorphic features|Dyslexia 	ICGC,
chr18	1033889	1033889	C	G	intergenic	ADCYAP1,LINC00470	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Sudden infant death syndrome, association with,-	ICGC,
chr6	31044985	31044985	C	T	intergenic	HCG22,C6orf15	unknown	SNV	-	-	-	0.4287	rs2249485	-	0.488818	-	0.428	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,Follicular lymphoma, association with 	ICGC,
chr21	28385589	28385589	A	C	intergenic	ADAMTS5,MIR5009	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,-	-,-	ICGC,
chr3	36858257	36858257	A	C	intergenic	DCLK3,TRANK1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16708712	-	PAEN-IT|1|37|0.02703	-	-	-,-	-,-	COSMIC,COSMIC,ICGC,
chr9	81876634	81876634	T	G	intergenic	LOC101927450,TLE4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr4	173794670	173794670	G	A	intronic	GALNTL6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr1	73074322	73074322	G	A	intergenic	NEGR1,LINC01360	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,-	Obesity, association with|Dyslexia |Body mass index, association with|Attention deficit hyperactivity disorder,-	ICGC,
chr12	83713427	83713427	T	A	intergenic	TMTC2,SLC6A15	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,reproductive system phenotype	-,Increased maximal 3H proline uptake	ICGC,
chr12	79624863	79624863	T	A	intronic	SYT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BOCA-UK|1|130|0.00769	-	-	mortality/aging	-	ICGC,
chr6	54212892	54212892	T	C	intronic	TINAG	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Chronic renal failure, childhood-onset	ICGC,
chr5	84891584	84891584	C	A	intergenic	EDIL3,NBPF22P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	immune system phenotype,-	Schizophrenia  ,-	ICGC,
chr3	118275831	118275831	C	T	intergenic	LINC00901,IGSF11	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr7	2411440	2411440	G	T	exonic	EIF3B	nonsynonymous	SNV	0.002	0.467	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr11	57808752	57808752	T	A	intronic	OR9Q1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-	-	ICGC,
chr12	67899230	67899230	G	T	intergenic	CAND1,LOC100507175	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15353895	-	OV-AU|1|93|0.01075	-	-	-,-	Potential protein deficiency,-	COSMIC,COSMIC,ICGC,
chr10	101903483	101903483	G	A	intergenic	CPN1,ERLIN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	immune system phenotype,-	Carboxypeptidase N deficiency,Spastic paraplegia 62	ICGC,
chr1	119427441	119427441	T	C	exonic	TBX15	nonsynonymous	SNV	0.153	0.962	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	integument phenotype	Cousin syndrome	ICGC,
chr20	58042570	58042570	C	T	intergenic	EDN3,PHACTR3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Waardenburg-Hirschsprung disease|Waardenburg syndrome 4B|Waardenburg syndrome 4|Shah-Waardenburg syndrome|Phenotype modification in HSCR|Hirschsprung disease|Deafness  |Central hypoventilation syndrome,-	ICGC,
chr19	43660670	43660670	G	A	intergenic	PSG2,PSG5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Potential protein deficiency,-	ICGC,
chr1	235839584	235839584	G	A	intronic	LYST	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Chediak-Higashi syndrome	ICGC,
chr14	70008143	70008143	-	T	intergenic	PLEKHD1,CCDC177	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	Schizophrenia  ,-	ICGC,
chr10	34437990	34437990	A	T	intronic	PARD3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6069413	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging	Neural tube defects	COSMIC,ICGC,
chr6	151046816	151046816	G	A	intronic	PLEKHG1	unknown	SNV	-	-	-	0.2921	rs6557091	-	0.350839	-	0.275	-	-	LAML-KR|1|205|0.00488	-	-	hematopoietic system phenotype	-	ICGC,
chr1	164063889	164063889	T	C	intergenic	LOC100422212,PBX1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16111160	-	PACA-CA|1|268|0.00373	-	-	-,integument phenotype	-,Schizophrenia	COSMIC,ICGC,
chr16	57083701	57083701	G	T	intronic	NLRC5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype	Schizophrenia	ICGC,
chr10	47392280	47392280	A	C	ncRNA_intronic	FAM35DP	unknown	SNV	-	-	-	0	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr7	100311217	100311217	C	T	intergenic	POP7,EPO	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Diabetic eye and kidney complications, association with|Myelodysplastic syndrome, association with	ICGC,
chr12	5161301	5161301	A	T	intergenic	KCNA5,LOC101929584	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	hematopoietic system phenotype,-	Pulmonary arterial hypertension|Postoperative atrial fibrillation, association with|Cardiac arrhythmia|Atrial fibrillation|Altered channel function,-	ICGC,
chr1	166829473	166829473	C	T	exonic	TADA1	synonymous	SNV	-	-	2.457e-05	-	rs139170315	3.339e-05	-	0.0002	-	COSM898983	UCEC|2|248|0.00806	UCEC-US|2|250|0.00800	-	-	-	-	COSMIC,TCGA,ICGC,
chr9	77927089	77927089	C	T	intergenic	OSTF1,MIR548H3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	161621724	161621724	G	A	intergenic	GABRG2,CCNG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,mortality/aging	Seizures, generalized tonic-clonic|Myoclonic epilepsy of infancy |Generalized epilepsy with febrile seizures plus|Febrile seizures|Epilepsy, susceptibility to|Epilepsy, idiopathic generalised  |Epilepsy, childhood absence with febrile seizures|Dravet syndrome,-	ICGC,
chr2	178601718	178601718	C	A	intronic	PDE11A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9118389	-	OV-AU|1|93|0.01075	-	-	behavior/neurological phenotype	Testicular germ cell tumour, association with|Prostate cancer, susceptibility to |Altered enzyme activity|Adrenocortical tumours|Adrenocortical hyperplasia|Adrenocortical adenoma.|Adrenocortical adenoma|ACTH-independent macronodular adrenocortical hyperplasia|ACTH-independent macronodular adrenal hyperplasia	COSMIC,ICGC,
chr9	99580758	99580758	T	C	exonic	ZNF782	nonsynonymous	SNV	0.603	0.288	-	-	-	-	-	-	-	COSM5014862	-	-	-	-	-	-	COSMIC,
chr6	6607117	6607117	G	T	ncRNA_intronic	LY86-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7892043	-	PACA-AU|1|391|0.00256	-	-	-	-	COSMIC,ICGC,
chrX	85440801	85440801	G	T	intronic	DACH2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	normal phenotype	-	ICGC,
chr6	168193898	168193898	C	T	ncRNA_intronic	C6orf123	unknown	SNV	-	-	-	0.0223	rs145419405	-	0.00599042	-	0.014	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr5	174712662	174712662	T	G	intergenic	FLJ16171,DRD1	unknown	SNV	-	-	-	0.1115	rs10043993	-	0.138778	-	0.109	-	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	-,Schizophrenia, association with.|Schizophrenia, association with  |Renal traits, association with|Reduced basal signalling|Psychotic symptoms and Aggressive behaviour, in Alzheimer disease, association with.|Psychosis and Aggression, in Alzheimer disease, association with.|Prophylactic lithium response in bipolar disorder, association with|Nicotine dependence, association with|Essential hypertension, association with|Bipolar disorder, association with	ICGC,
chr8	64744890	64744890	-	GAT	intergenic	LINC01289,MIR124-2HG	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr5	160241413	160241413	G	A	intronic	ATP10B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr3	95540764	95540764	G	A	intergenic	MTHFD2P1,MIR8060	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr21	17379200	17379200	C	A	intergenic	USP25,LINC00478	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype,-	-,-	ICGC,
chr12	92542614	92542614	G	A	intergenic	BTG1,CLLU1OS	unknown	SNV	-	-	-	0.0040	rs143363863	-	0.0061901	-	-	-	-	LAML-KR|1|205|0.00488	-	-	-,-	Keratosis pilaris,-	ICGC,
chr7	8401835	8401835	G	A	intergenic	ICA1,NXPH1	unknown	SNV	-	-	-	9.713e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,mortality/aging	-,Breast cancer, increased risk  	ICGC,
chr12	70862352	70862352	C	A	intergenic	KCNMB4,PTPRB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,integument phenotype	-,Drug addiction, association with	ICGC,
chr2	98213353	98213353	C	A	intergenic	ANKRD36B,COX5B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17243165	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	COSMIC,ICGC,
chr6	86958053	86958053	C	T	intergenic	SNHG5,HTR1E	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr2	141435089	141435089	G	T	intronic	LRP1B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8759318	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Schizophrenia   	COSMIC,ICGC,
chr16	20157906	20157906	-	ACACACACACACAG	intergenic	GPR139,GP2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,endocrine/exocrine gland phenotype	Autism|Schizophrenia    ,Pancreatitis, reduced risk, association with  	ICGC,
chr8	58910782	58910782	-	TA	intronic	FAM110B	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr3	21180350	21180350	A	C	intergenic	LOC101927829,VENTXP7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr8	97523649	97523649	A	C	intronic	SDC2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24914910	-	LICA-FR|1|252|0.00397	-	-	-	Systemic sclerosis, protection against, association with	COSMIC,ICGC,
chrX	20595656	20595656	T	C	intergenic	RPS6KA3,CNKSR2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	integument phenotype,-	Mental retardation, non-specific|Intellectual disability, X-linked & Coffin-Lowry syndrome|Intellectual disability, X-linked|Coffin-Lowry syndrome|Autism,Intellectual disability, X-linked non-syndromic	ICGC,
chr12	14662621	14662621	C	T	intronic	PLBD1	unknown	SNV	-	-	-	-	rs149249477	-	0.000199681	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr3	79668248	79668248	C	T	intronic	ROBO1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Developmental dyslexia 	ICGC,
chrX	88184548	88184548	A	G	intergenic	CPXCR1,TGIF2LX	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	ICGC,
chrX	141579878	141579878	T	C	intergenic	MAGEC2,SPANXN4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr7	79782233	79782233	G	T	intronic	GNAI1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	immune system phenotype	-	ICGC,
chr8	69565881	69565881	GG	AA	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr19	7747395	7747395	T	C	exonic	TRAPPC5	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM4627774	-	-	-	-	-	-	COSMIC,
chr1	183128784	183128784	G	A	intergenic	LAMC1,LAMC2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,integument phenotype	Dandy-Walker malformation and occipital cephaloceles|Pelvic organ prolapse, association with,Epidermolysis bullosa, Herlitz|Epidermolysis bullosa, junctional	ICGC,
chr3	138898045	138898045	G	A	intergenic	BPESC1,PISRT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	127956624	127956624	C	T	intergenic	FBN2,SLC27A6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Contractural arachnodactyly|Congenital heart disease ,-	ICGC,
chr18	63249237	63249237	G	A	intergenic	LOC284294,CDH7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr4	44724295	44724295	A	G	intronic	GNPDA2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24382549	-	-	-	-	-	-	COSMIC,
chr8	122607260	122607260	A	T	intergenic	SNTB1,HAS2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-AU|1|391|0.00256	-	-	-,mortality/aging	-,Ventricular septal defect	ICGC,
chr11	22264565	22264565	A	G	intronic	ANO5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25034052	-	LICA-FR|1|252|0.00397	-	-	-	Persistent asymptomatic hyperCKemia|Myopathy of posterior calf muscles, late-onset|Myopathy / muscular dystrophy|Myopathy  |Muscular dystrophy, limb girdle 2L.|Muscular dystrophy, limb girdle 2L|Muscular dystrophy  |Miyoshi-like distal myopathy|Miyoshi myopathy, non-dysferlin|Miyoshi distal myopathy.|Miyoshi distal myopathy|Gnathodiaphyseal dysplasia|Autism 	COSMIC,ICGC,
chr8	72662219	72662219	C	T	intergenic	EYA1,MSC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,mortality/aging	Oto-facio-cervical syndrome|Peters' anomaly with cataracts|Renal hypodysplasia|Renal malformation|Ureteropelvic junction obstruction and reduced renal function|Iris anomaly|Hearing loss?|Deafness  |Cayler's cardiofacial syndrome|Cataract, autosomal dominant|Branchio-oto-renal syndrome|Branchio-oto-renal / branchiootic syndrome|Branchio-otic syndrome,-	ICGC,
chr6	118777620	118777620	C	T	intergenic	SLC35F1,CEP85L	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr11	80825762	80825762	G	T	intergenic	LOC101928944,LOC101928989	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr10	129958069	129958069	G	A	intergenic	MKI67,LINC01163	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Schizophrenia  ,-	ICGC,
chr8	32094702	32094702	C	A	intronic	NRG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype	Sudden cardiac death, association with|Schizophrenia, association with  |Schizophrenia in African Americans, association with|Prepulse inhibition, association with|Perceptual aberration of schizotypal personality, association with|Increased lateral ventricle volume in schizophrenia|Hirschsprung disease|Developmental delay, hypotonia & microcephaly|Alzheimers disease, association with	ICGC,
chr6	13380646	13380646	G	A	intronic	GFOD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Schizophrenia	ICGC,
chr1	174958830	174958830	C	T	intronic	RABGAP1L	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17290492	-	ESAD-UK|1|301|0.00332	-	-	normal phenotype	-	COSMIC,ICGC,
chr2	45968606	45968606	-	AGA	intronic	PRKCE	unknown	insertion	-	-	-	0.4081	rs145692320	-	0.351238	-	0.022	COSN27510715	-	-	-	-	hematopoietic system phenotype	-	COSMIC,
chr8	120195035	120195035	A	-	intergenic	COLEC10,MAL2	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	ICGC,
chr3	181249056	181249056	C	T	ncRNA_intronic	SOX2-OT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr16	62966766	62966766	G	A	intergenic	CDH8,CDH11	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,integument phenotype	Learning disability  |Autism & learning disability ,-	ICGC,
chr4	73423569	73423569	A	G	intronic	ADAMTS3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26539768	-	LICA-CN|1|402|0.00249	-	-	-	Schizophrenia	COSMIC,ICGC,
chr5	62813438	62813438	C	T	intergenic	IPO11,HTR1A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,mortality/aging	-,Tourette syndrome |Reduced expression|Personality disorders, association with.|Menstrual cycle-dependent fever|Major depression and suicide, association with|Major depression|Impulsive behaviour, association with|Epileptic seizures |Comorbid depression and generalized anxiety, association with|Attenuated agonist-mediated receptor down-regulation and desensitization	ICGC,
chr3	96838480	96838480	G	T	intronic	EPHA6	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17056818	-	-	-	-	behavior/neurological phenotype	Alzheimer disease  	COSMIC,
chr5	92501830	92501830	C	A	intergenic	ARRDC3-AS1,NR2F1-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9310396	-	PAEN-AU|1|52|0.01923	-	-	-,-	-,-	COSMIC,ICGC,
chr3	177630083	177630083	T	C	intergenic	LOC102724550,LINC01014	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	ICGC,
chr4	141221697	141221697	T	C	ncRNA_intronic	SCOC-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	NKTL-SG|1|50|0.02000	-	-	-	-	ICGC,
chr22	48931170	48931170	C	G	intronic	FAM19A5	unknown	SNV	-	-	-	0.0909	rs5768714	-	0.188698	-	0.138	COSN6480057	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr14	87260757	87260757	G	A	intergenic	LOC101928767,LOC283585	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr16	51917140	51917140	C	A	intergenic	LOC101927364,C16orf97	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8501451	-	OV-AU|1|93|0.01075	-	-	-,-	-,-	COSMIC,COSMIC,ICGC,
chr4	6041892	6041892	C	T	intronic	JAKMIP1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17944383	-	SKCA-BR|1|100|0.01000	-	-	-	-	COSMIC,ICGC,
chr3	39759672	39759672	-	CTATCTATCTAT	intergenic	MOBP,MYRIP	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	behavior/neurological phenotype,-	-,-	ICGC,
chr8	88735704	88735704	A	C	intergenic	CNBD1,DCAF4L2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8289947	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	COSMIC,ICGC,
chr1	188165778	188165778	G	A	intergenic	PLA2G4A,BRINP3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7190113	-	PACA-AU|1|391|0.00256	-	-	mortality/aging,-	Asthma, association with|Cryptogenic multifocal ulcerating stenosing enteritis|Increased enzyme activity|Prostanoid biosynthesis deficiency,-	COSMIC,ICGC,
chr7	43562366	43562366	C	G	intronic	HECW1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN14440654	-	PACA-AU|1|391|0.00256	-	-	-	-	COSMIC,ICGC,
chr8	49969685	49969685	G	T	intronic	C8orf22	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23794152	-	ORCA-IN|1|178|0.00562	-	-	-	-	COSMIC,ICGC,
chr3	97129068	97129068	C	T	intronic	EPHA6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	behavior/neurological phenotype	Alzheimer disease  	ICGC,
chr1	162497921	162497921	C	G	UTR3	UHMK1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	cardiovascular system phenotype	-	ICGC,
chr7	145691929	145691929	C	T	intergenic	TPK1,CNTNAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	Thiamine pyrophosphokinase deficiency|Leigh-like disease|Colorectal cancer, increased risk, association with |Autism,Gilles de la Tourette syndrome|Intellectual disability  |Learning disability & speech problems|Mental retardation |Mental retardation, Pitt-Hopkins-like|Multiple congenital anomalies  |Seizures, neonatal |Speech delay  |Stuttering |Epileptic encephalopathy  |Epilepsy and schizophrenia|Autism|Autism spectrum disorder |Autism spectrum disorder, modifier of|Childhood apraxia of speech|Cortical dysplasia-focal epilepsy syndrome|Developmental and/or speech and/or behavioural problems|Developmental delay  |Developmental delay & dysmorphic features|Dyslexia 	ICGC,
chr8	138288054	138288054	T	A	intergenic	KHDRBS3,FAM135B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr1	214201282	214201282	G	A	intronic	PROX1	unknown	SNV	-	-	-	0.0030	rs192374100	-	0.00159744	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	-	ICGC,
chr5	20926370	20926370	A	G	intergenic	CDH18,GUSBP1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19452893	-	-	-	-	-,-	Anorectal malformation,-	COSMIC,
chr8	14547139	14547139	G	A	intronic	SGCZ	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Cervical artery dissection	ICGC,
chr4	125716553	125716553	C	T	intergenic	ANKRD50,FAT4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	Schizophrenia,Periventricular neuronal heterotopia|Schizophrenia	ICGC,
chr14	78819046	78819046	A	G	intergenic	NONE,NRXN3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,mortality/aging	-,Alcohol dependence, association with|Autism spectrum disorder  	ICGC,
chr1	209239142	209239142	C	T	intergenic	PLXNA2,MIR205HG	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|4|183|0.02186	-	-	vision/eye phenotype,-	Tetralogy of Fallot,-	ICGC,
chr6	78805853	78805853	T	G	intergenic	MEI4,IRAK1BP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,no phenotypic analysis	-,-	ICGC,
chr4	138102443	138102443	C	T	intergenic	LINC00613,PCDH18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Intellectual disability  	ICGC,
chr16	34226010	34226010	G	A	intergenic	LINC00273,UBE2MP1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8498902	-	OV-AU|1|93|0.01075	-	-	-,-	-,-	COSMIC,COSMIC,ICGC,
chr6	48798651	48798651	T	G	intergenic	PTCHD4,MUT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,mortality/aging	-,Methylmalonic aciduria	ICGC,
chr1	240117269	240117269	T	G	intergenic	CHRM3,RPS7P5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7211077	-	PACA-AU|1|391|0.00256	-	-	vision/eye phenotype,-	Autistic disorder|Bladder malformation|Diabetes, type 2, increased risk, association |Tetralogy of Fallot,-	COSMIC,ICGC,
chr11	120872094	120872094	G	A	intergenic	GRIK4,TBCEL	unknown	SNV	-	-	-	0.4528	rs4936571	-	0.416334	-	0.449	-	-	ESAD-UK|1|301|0.00332	-	-	behavior/neurological phenotype,-	Modulated hippocampal function, association with|Biopolar disorder, protection, association with,-	ICGC,
chr8	78284540	78284540	G	A	intergenic	PEX2,PKIA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging,normal phenotype	Zellweger syndrome|Refsum disease, infantile|Peroxisome biogenesis disorder|Cerebellar ataxia, autosomal recessive,-	ICGC,
chr12	74733128	74733128	G	A	intergenic	LOC100507377,ATXN7L3B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr3	3723425	3723425	A	G	intergenic	CRBN,LRRN1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6767207	-	LIRI-JP|1|258|0.00388	-	-	behavior/neurological phenotype,behavior/neurological phenotype	Mental retardation, non-syndromic, autosomal recessive,-	COSMIC,ICGC,
chr10	131645524	131645524	G	A	intronic	EBF3	unknown	SNV	-	-	-	0.0002	rs139053223	-	0.00339457	-	-	-	-	LAML-KR|1|205|0.00488	-	-	mortality/aging	-	ICGC,
chr2	228800128	228800128	T	A	intergenic	DAW1,SPHKAP	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	-,-	ICGC,
chr9	38122358	38122358	C	T	intergenic	SHB,ALDH1B1	unknown	SNV	-	-	-	9.69e-05	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	mortality/aging,-	-,-	ICGC,
chr7	115589665	115589665	A	G	intronic	TFEC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype	-	ICGC,
chr8	73334064	73334064	A	T	intergenic	LOC392232,KCNB2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2288438	-	LIRI-JP|1|258|0.00388	-	-	-,behavior/neurological phenotype	-,Tetralogy of Fallot	COSMIC,ICGC,
chr20	30365318	30365318	G	A	exonic	TPX2	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM5973987	-	-	-	-	mortality/aging	-	COSMIC,COSMIC,
chr7	116989641	116989641	T	G	intergenic	WNT2,ASZ1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	mortality/aging,reproductive system phenotype	-,-	ICGC,
chr3	77853670	77853670	T	C	intergenic	ROBO2,ROBO1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	mortality/aging,mortality/aging	Autism spectrum disorder  |Urinary tract anomalies|Vesicoureteral reflux,Developmental dyslexia 	ICGC,
chr1	194406532	194406532	T	C	intergenic	CDC73,KCNT2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Potential protein deficiency|Parathyroid carcinoma/adenoma|Parathyroid carcinoma.|Parathyroid carcinoma|Parathyroid cancer|Parathyroid adenoma.|Parathyroid adenoma |Hyperparathyroidism, primary.|Hyperparathyroidism, primary|Hyperparathyroidism, isolated|Hyperparathyroidism-jaw tumour syndrome.|Hyperparathyroidism-jaw tumour syndrome,-	ICGC,
chr15	20070290	20070290	G	A	intergenic	NONE,CHEK2P2	unknown	SNV	-	-	-	0.0078	rs137862631	-	-	-	0.029	COSN6640090	-	PAEN-AU|1|52|0.01923	-	-	-,-	-,-	COSMIC,COSMIC,ICGC,
chr16	31894809	31894809	C	T	intronic	ZNF267	unknown	SNV	-	-	-	6.462e-05	-	-	-	-	-	COSN22351323	-	BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr9	1951767	1951767	A	C	intergenic	DMRT2,SMARCA2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20673101	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging,integument phenotype	-,Short stature|Schizophrenia, association with   |Nicholaides-Baraitser syndrome|Multiple congenital anomalies  |Lung cancer, association with|Intellectual disabilty, short stature and dysmorphisms|Hepatocellular carcinoma, in smokers, association with.|Hepatocellular carcinoma, association with.|Developmental delay & dysmorphic features|Developmental delay & autistic features|Developmental delay  |Coffin-Siris syndrome	COSMIC,ICGC,
chr7	108590509	108590509	G	T	intergenic	C7orf66,EIF3IP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	125800402	125800402	C	T	intergenic	CNTNAP5,GYPC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|3|183|0.01639	-	-	-,-	Autism,Glycophorin C variant|Gerbich-negative blood group|Elliptocytosis|Duch blood group	ICGC,
chr9	28866301	28866301	T	-	intronic	LINGO2	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Autism spectrum disorder  |Developmental delay with absent speech	ICGC,
chr6	97677190	97677190	G	C	exonic	MMS22L	nonsynonymous	SNV	0.018	0.787	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	Potential protein deficiency	ICGC,
chr6	27668301	27668301	A	C	ncRNA_intronic	LINC01012	unknown	SNV	-	-	-	9.784e-05	-	-	-	-	-	-	-	PBCA-US|2|186|0.01075	-	-	-	-	ICGC,
chr20	31670501	31670501	C	T	intronic	BPIFB4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr4	163793567	163793567	A	G	intergenic	FSTL5,NAF1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	Schizophrenia  |Rolandic epilepsy ,-	ICGC,
chr5	86226380	86226380	G	A	intergenic	LOC100505878,MIR4280	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr15	37478091	37478091	G	A	intergenic	MEIS2,TMCO5A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	Cleft palate & cardiac septum ,-	ICGC,
chr12	93903226	93903227	CT	-	intergenic	MRPL42,SOCS2-AS1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176,PACA-AU|1|391|0.00256	-	-	-,-	-,-	ICGC,
chr2	153496517	153496517	C	T	exonic	FMNL2	nonsynonymous	SNV	0.06	0.839	6.118e-06	6.466e-05	-	-	-	-	-	COSM1482049	BRCA|1|982|0.00102	BRCA-US|1|955|0.00105	-	-	-	-	COSMIC,TCGA,ICGC,
chr1	179104860	179104860	G	A	intronic	ABL2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	-	ICGC,
chr12	38727218	38727218	T	G	intergenic	ALG10B,CPNE8	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21311794	-	BRCA-EU|1|569|0.00176	-	-	-,-	Acquired long QT syndrome, protection against, association|Acquired long QT syndrome,-	COSMIC,ICGC,
chr3	177674075	177674075	G	A	intergenic	LOC102724550,LINC01014	unknown	SNV	-	-	-	0.1339	rs59538402	-	0.149561	-	0.159	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr1	81221272	81221272	A	T	intergenic	ELTD1,LPHN2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27881007	-	PRAD-CA|1|308|0.00325	-	-	normal phenotype,mortality/aging	-,Schizophrenia	COSMIC,ICGC,
chr6	95057215	95057215	G	A	intergenic	TSG1,MANEA-AS1	unknown	SNV	-	-	-	0.3086	rs7764234	-	0.317292	-	0.304	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr2	179530119	179530119	T	A	exonic	TTN	nonsynonymous	SNV	-	0.008	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	mortality/aging	Muscular dystrophy, limb girdle 2J|Myopathy|Myopathy with cellular aggregates|Potential protein deficiency|Tibial muscular dystrophy|Titinopathy|Muscular dystrophy  |Limb girdle muscular dystrophy 2J|Arrhythmogenic right ventricular cardiomyopathy|Arthrogryposis multiplex congenita with axoglial defects|Cardiac dysrhythmia|Cardiomyopathy, dilated|Cardiomyopathy, hypertrophic|Centronuclear myopathy	ICGC,
chr6	39376946	39376946	G	A	intronic	KIF6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	Schizophrenia|Response to statin therapy, association with|Myocardial infarction, increased myocardial damage, association|Increased vulnerability to LDL cholesterol, association with|Coronary heart disease, association with	ICGC,
chr2	223917832	223917832	C	T	exonic	KCNE4	nonsynonymous	SNV	-	0.442	8.139e-06	-	-	-	-	-	-	COSM4694274	-	-	-	-	-	Periodic paralysis |Atrial fibrillation, association with|Atrial fibrillation ?	COSMIC,
chr2	40376784	40376784	G	A	ncRNA_intronic	SLC8A1-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr21	41318915	41318915	C	T	intergenic	PCP4,DSCAM	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,mortality/aging	-,Bipolar disorder, association with 	ICGC,
chr4	94074744	94074763	CATTCCAGGCCGGGACATAG	-	intronic	GRID2	unknown	deletion	-	-	-	-	-	-	-	-	-	COSN22830301	-	BRCA-UK|1|141|0.00709,BRCA-EU|1|569|0.00176	-	-	mortality/aging	Cerebellar ataxia & tonic upgaze|Cerebellar ataxia and atrophy|Schizophrenia|Spastic paraplegia, complicated	COSMIC,ICGC,
chr5	144292521	144292521	A	G	intergenic	KCTD16,PRELID2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr8	128512852	128512852	T	C	intergenic	CASC8,CASC11	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	ICGC,
chr14	48059077	48059077	C	T	intronic	MDGA2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	skeleton phenotype	-	ICGC,
chr17	52788598	52788598	G	C	intergenic	KIF2B,TOM1L1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8342995	-	PRAD-UK|1|140|0.00714	-	-	-,-	-,-	COSMIC,ICGC,
chr2	200539868	200539868	T	C	intergenic	LOC101927641,FTCDNL1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1818435	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr1	114405720	114405720	T	C	ncRNA_intronic	AP4B1-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr6	55109134	55109135	CT	-	intronic	HCRTR2	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	behavior/neurological phenotype	Tourette syndrome|Panic disorder, in females, association with|Excessive daytime sleepiness|Cluster headache, association with 	ICGC,
chr11	55965695	55965695	G	C	intergenic	OR5J2,OR5T2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22179844	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr16	85602388	85602388	C	T	intergenic	MIR5093,GSE1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN4767942	-	MALY-DE|1|241|0.00415	-	-	-,hematopoietic system phenotype	-,-	COSMIC,ICGC,
chr8	10743784	10743784	A	T	intergenic	PINX1,XKR6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	integument phenotype,-	-,Schizophrenia	ICGC,
chr10	32560784	32560784	T	C	exonic	EPC1	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM1603412	-	LINC-JP|1|394|0.00254	-	-	mortality/aging	Schizophrenia	COSMIC,ICGC,
chr5	11934516	11934516	G	A	intergenic	CTNND2,LINC01194	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	behavior/neurological phenotype,-	Schizophrenia  |Lennox-Gastaut syndrome |Autism spectrum disorder|Anorectal malformation|Altered localisation,-	ICGC,
chr3	5883767	5883767	T	C	intergenic	MIR4790,LOC101927347	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr4	168300087	168300087	G	A	intergenic	SPOCK3,ANXA10	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN4830548	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	COSMIC,ICGC,
chr3	135721893	135721893	C	A	exonic	PPP2R3A	nonsynonymous	SNV	0.068	0.779	8.211e-06	3.234e-05	rs201859100	-	0.000199681	-	-	COSM5355082	-	-	-	-	-	-	COSMIC,
chr5	93154990	93154990	C	T	intronic	FAM172A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr12	124961766	124961766	G	A	intronic	NCOR2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Schizophrenia  	ICGC,
chr6	50562770	50562770	C	T	intergenic	DEFB112,TFAP2D	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,cellular phenotype	-,Schizophrenia	ICGC,
chr6	57268147	57268147	C	T	intronic	PRIM2	unknown	SNV	-	-	-	0.2994	rs58334857	-	-	-	0.152	COSN27029488	-	ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488,SKCA-BR|1|100|0.01000	-	-	-	Potential protein deficiency	COSMIC,ICGC,
chr18	73096417	73096417	C	T	intergenic	TSHZ1,SMIM21	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Aural atresia, congenital,-	ICGC,
chr2	6030972	6030972	C	T	intergenic	SOX11,LINC01105	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	integument phenotype,-	-,-	ICGC,
chr3	110360501	110360501	G	A	intergenic	LINC01205,PVRL3-AS1	unknown	SNV	-	-	-	0.0002	-	-	-	-	-	COSN7552284	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	COSMIC,ICGC,
chr16	65375387	65375387	C	T	ncRNA_intronic	LINC00922	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chrX	136874052	136874052	G	A	intergenic	ZIC3,LINC00889	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Situs abnormality|Heterotaxy|Congenital heart disease |Cardiac malformation,-	ICGC,
chr7	18678596	18678596	A	C	intronic	HDAC9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Peters' anomaly |Immunodeficiency, common variable, association with  	ICGC,
chr13	104503424	104503424	C	T	intergenic	MIR548AS,DAOA-AS1	unknown	SNV	-	-	-	-	rs530837465	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr11	37183168	37183168	G	C	intergenic	C11orf74,LOC103312105	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	NKTL-SG|1|50|0.02000	-	-	-,-	-,-	ICGC,
chr1	241015515	241015515	G	A	intronic	RGS7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Intellectual disability  |Autism spectrum disorder  	ICGC,
chr6	143888728	143888728	G	A	ncRNA_intronic	LOC285740	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr12	61386674	61386674	T	C	intergenic	SLC16A7,FAM19A2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	Autism spectrum disorder,-	ICGC,
chr2	240962741	240962741	G	A	intronic	NDUFA10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	Complex I deficiency	ICGC,
chr7	64760448	64760448	A	G	ncRNA_intronic	LOC441242	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-	-	ICGC,
chr7	89203373	89203373	A	G	intergenic	ZNF804B,STEAP2-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	84526936	84526936	G	A	intergenic	EDIL3,NBPF22P	unknown	SNV	-	-	-	0.0003	rs144212942	-	0.000798722	-	0.007	-	-	SKCA-BR|1|100|0.01000	-	-	immune system phenotype,-	Schizophrenia  ,-	ICGC,
chr15	81851536	81851536	C	T	intergenic	LOC101929655,MEX3B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25458252	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	COSMIC,ICGC,
chr1	92646383	92646383	G	T	exonic	KIAA1107	nonsynonymous	SNV	0.015	0.002	-	-	-	-	-	-	-	COSM6340303	-	LICA-CN|1|402|0.00249	-	-	-	-	COSMIC,COSMIC,ICGC,
chr5	55480512	55480512	C	T	intronic	ANKRD55	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Potential protein deficiency	ICGC,
chr11	30984248	30984248	A	G	intronic	DCDC5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Dyslexia |Schizophrenia  	ICGC,
chr22	41929631	41929631	G	T	intronic	POLR3H	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26563072	-	LICA-CN|2|402|0.00498	-	-	-	-	COSMIC,ICGC,
chr2	59050772	59050772	G	A	ncRNA_intronic	LINC01122	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr2	196298339	196298339	C	T	intergenic	LOC101927431,SLC39A10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|2|100|0.02000	-	-	-,-	-,-	ICGC,
chr1	229380603	229380603	G	A	intergenic	RHOU,RAB4A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr11	51092205	51092205	A	T	intergenic	LOC646813,OR4A5	unknown	SNV	-	-	-	0.0002	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	ICGC,
chr2	57997918	57997918	-	T	intergenic	CCDC85A,VRK2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr1	27851014	27851017	TCTG	-	intergenic	WASF2,AHDC1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	mortality/aging,-	-,Syndromic expressive language delay, hypotonia & sleep apnoea	ICGC,
chr7	88512184	88512184	G	A	intronic	ZNF804B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr2	121421472	121421472	C	T	intergenic	LINC01101,GLI2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,integument phenotype	-,Hypopituitarism  |Hypopituitarism & ectopic posterior pituitary lobe|Hypopituitarism and/or post-axial polydactyly|Multiple pituitary hormone deficiency|Reduced transcriptional activity|Schizophrenia|Holoprosencephaly, lobar|Holoprosencephaly-like phenotype|Cleft lip |Craniofacial anomalies |Holoprosencephaly |Holoprosencephaly spectrum phenotype|Holoprosencephaly with anophthalmia, branchial arch anomalies & CNS anomalies|Holoprosencephaly with heminasal aplasia & orbital anomalies	ICGC,
chr1	232506775	232506775	G	A	intergenic	TSNAX-DISC1,SIPA1L2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr4	59258249	59258249	C	T	intergenic	IGFBP7-AS1,NONE	unknown	SNV	-	-	-	0.0024	rs149592475	-	0.00139776	-	-	COSN21496839	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr10	118749564	118749564	C	A	intronic	KIAA1598	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21628979	-	BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr9	128493423	128493423	G	A	intergenic	MAPKAP1,LOC51145	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Breast cancer, non-BRCA1/BRCA2 related,-	ICGC,
chr22	32808975	32808975	C	T	downstream	RTCB	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21599661	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	-	-	COSMIC,COSMIC,ICGC,
chr18	49295687	49295687	C	T	intergenic	LOC100287225,DCC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Altered p53 transactivation|Colorectal cancer, risk, association with |Mirror movements, congenital	ICGC,
chr2	47878588	47878588	A	C	intergenic	KCNK12,MSH6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,integument phenotype	-,Muir-Torre syndrome.|Muir-Torre syndrome|MMR deficiency|Mismatch repair defect |Lynch syndrome-associated breast cancer.|Increased risk of urothelial cancer in HNPCC patients|Impaired DNA repair |Multiple colorectal adenoma |Neurofibromatosis, type 1|Ovarian / endometrial carcinoma|Ovarian cancer |Ovarian carcinoma|Potential protein deficiency|Prostate cancer  |T-cell acute lymphoblastic lymphoma|Turcot syndrome|Endometrial cancer.|Endometrial cancer ?|Endometrial cancer|Breast cancer predisposition |Breast cancer, predisposition |Breast carcinoma|Cafe-au-lait, oligodendroglioma, rectal cancer|Cancer, hereditary|Colon cancer|Colon cancer, breast cancer, leukaemia|Colorectal / endometrial cancer|Colorectal cancer|CpG island methylator phenotype in colon cancer, association with|Constitutional mismatch repair-deficiency syndrome|Colorectal cancer.|Colorectal cancer, non-polyposis.|Colorectal cancer, non-polyposis|Colorectal cancer, early onset|Colorectal cancer, association with 	ICGC,
chr10	38815248	38815248	G	A	intergenic	LINC00999,ACTR3BP5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	188275769	188275769	C	T	ncRNA_intronic	LOC339975	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-	-	ICGC,
chr6	77843837	77843837	C	T	intergenic	IMPG1,HTR1B	unknown	SNV	-	-	-	0.8091	rs9341640	-	0.879992	-	0.797	-	-	ESAD-UK|1|301|0.00332	-	-	-,skeleton phenotype	Macular dystrophy, vitelliform,Suicidal ideation, in major depression, association with|Receptor variant|Alcohol dependence, association with|Alcohol and drug abuse, association with|Aggressive behaviour, association with	ICGC,
chr2	163370249	163370249	A	G	intronic	KCNH7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-	-	ICGC,
chr6	57262465	57262465	G	T	intronic	PRIM2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Potential protein deficiency	ICGC,
chr13	57249066	57249066	G	A	intergenic	MIR5007,PRR20A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|2|100|0.02000,MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr16	61818821	61818821	C	G	intronic	CDH8	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22122074	-	BRCA-EU|1|569|0.00176	-	-	integument phenotype	Learning disability  |Autism & learning disability 	COSMIC,ICGC,
chr9	19451384	19451384	G	A	UTR3	ACER2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26647458	-	LICA-CN|1|402|0.00249	-	-	-	-	COSMIC,ICGC,
chr1	47169186	47169186	A	C	intronic	EFCAB14	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1446844	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chrX	56128262	56128262	C	T	intergenic	RRAGB,KLF8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,embryogenesis phenotype	-,Intellectual disability, absent speech & behavioural problems|Mental retardation, non-syndromic |Potential protein deficiency	ICGC,
chr10	33324232	33324232	A	T	intergenic	ITGB1,NRP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	integument phenotype,mortality/aging	-,-	ICGC,
chr10	82968154	82968154	T	G	intergenic	SH2D4B,NRG3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15222199	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	-,Schizophrenia, association with |Increased ventrolateral PFC activation|Hirschsprung disease  	COSMIC,ICGC,
chr12	54844157	54844157	T	-	ncRNA_intronic	LOC102724050	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176,LIRI-JP|1|258|0.00388,MALY-DE|1|241|0.00415	-	-	-	-	ICGC,
chr19	643748	643748	G	-	downstream	FGF22	unknown	deletion	-	-	-	3.238e-05	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	integument phenotype	Autism	ICGC,
chr7	146217720	146217720	C	T	intronic	CNTNAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Gilles de la Tourette syndrome|Intellectual disability  |Learning disability & speech problems|Mental retardation |Mental retardation, Pitt-Hopkins-like|Multiple congenital anomalies  |Seizures, neonatal |Speech delay  |Stuttering |Epileptic encephalopathy  |Epilepsy and schizophrenia|Autism|Autism spectrum disorder |Autism spectrum disorder, modifier of|Childhood apraxia of speech|Cortical dysplasia-focal epilepsy syndrome|Developmental and/or speech and/or behavioural problems|Developmental delay  |Developmental delay & dysmorphic features|Dyslexia 	ICGC,
chr20	16888268	16888268	C	T	intergenic	OTOR,PCSK2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,integument phenotype	Non-syndromic hearing impairment, association with|Sensorineural hearing loss, nonsyndromic  ,Diabetes, type 2, association with	ICGC,
chr9	17322699	17322699	T	A	intronic	CNTLN	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr11	120989224	120989224	G	C	exonic	TECTA	nonsynonymous	SNV	0.0	1.0	-	-	-	-	-	-	-	COSM1297739	BLCA|1|396|0.00253	BLCA-US|1|133|0.00752	-	-	behavior/neurological phenotype	Hearing impairment |Hearing loss|Hearing loss, non-syndromic|Hearing loss, non-syndromic, autosomal dominant|Hearing loss, non-syndromic, autosomal recessive|Jacobsen syndrome |Glaucoma, primary congenital|Deafness, non-syndromic |Deafness, autosomal recessive 21|Deafness, autosomal dominant 8|Deafness, autosomal dominant 12|Deafness, autosomal dominant|Deafness|Autism	COSMIC,TCGA,ICGC,
chr8	114862105	114862105	A	G	intergenic	CSMD3,TRPS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17806134	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	Schizophrenia  |Colorectal cancer ,Tricho-rhino-phalangeal syndrome with supernumerary teeth|Tricho-rhino-phalangeal syndrome III|Tricho-rhino-phalangeal syndrome I|Tricho-rhino-phalangeal syndrome|Infantile scoliosis & developmental delay|Femoral neck width, association with|Ambras syndrome	COSMIC,ICGC,
chr3	9024146	9024146	C	A	UTR3	SRGAP3	unknown	SNV	-	-	-	0.6267	rs341790	-	0.63778	-	0.638	-	-	ESAD-UK|1|301|0.00332,LICA-CN|1|402|0.00249,LUSC-KR|1|170|0.00588	-	-	behavior/neurological phenotype	SLIT-ROBO gap 3 deficiency|Schizophrenia, childhood onset with psychotic illness|Schizophrenia, childhood onset |Mental retardation|Intellectual disability  |Autism	ICGC,
chr14	80012977	80012977	A	G	intronic	NRXN3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6638836	-	LICA-FR|1|252|0.00397	-	-	mortality/aging	Alcohol dependence, association with|Autism spectrum disorder  	COSMIC,ICGC,
chr3	3065370	3065370	A	C	intronic	CNTN4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	nervous system phenotype	Spinocerebellar ataxia 16 |Features of 3p deletion syndrome|Autism spectrum disorder |Autism	ICGC,
chr1	5421435	5421435	A	C	intergenic	AJAP1,MIR4417	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr11	558211	558211	C	T	exonic	LMNTD2	nonsynonymous	SNV	0.0	0.404	-	-	-	-	-	-	-	COSM4666606	-	-	-	-	-	-	COSMIC,
chr22	35492449	35492449	C	A	intergenic	ISX,HMGXB4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	no phenotypic analysis,-	-,-	ICGC,
chr7	33910790	33910790	A	G	intergenic	BBS9,BMPER	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21749575	-	BRCA-EU|1|569|0.00176	-	-	-,mortality/aging	Wilms tumour |Tetralogy of Fallot|Nephronophthisis-related ciliopathy|Bardet-Biedl syndrome,Diaphanospondylodysostosis	COSMIC,ICGC,
chr2	147890519	147890519	G	A	intergenic	PABPC1P2,ACVR2A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,-	ICGC,
chr13	79761552	79761552	C	T	intergenic	LINC00331,RBM26	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17012466	-	PRAD-CA|1|308|0.00325	-	-	-,-	-,-	COSMIC,ICGC,
chr20	44518264	44518264	-	GTCT	intronic	NEURL2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	growth/size phenotype	-	ICGC,
chr16	3155151	3155151	C	A	intergenic	ZSCAN10,ZNF205-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5406471	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,COSMIC,ICGC,
chr3	185789270	185789270	C	T	intronic	ETV5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Male infertility, association with	ICGC,
chr20	56547828	56547828	C	T	intergenic	MIR4532,C20orf85	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	ICGC,
chr16	33413799	33413799	G	A	intergenic	LOC390705,RNU6-76P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr13	31397518	31397518	C	T	intergenic	LINC00398,LINC00545	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	-,-	-,-	ICGC,
chr12	98253351	98253351	G	T	intergenic	LOC643711,MIR4303	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN14468183	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	COSMIC,ICGC,
chr2	225397277	225397277	T	C	intronic	CUL3	unknown	SNV	-	-	-	-	rs754776279	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Schizophrenia|Pseudohypoaldosteronism type II|Hyperkalaemic hypertension.|Hyperkalaemic hypertension|Congenital heart disease |Autism	ICGC,
chr10	55200951	55200951	G	A	intergenic	MBL2,PCDH15	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22463080	-	BRCA-EU|1|569|0.00176	-	-	hematopoietic system phenotype,vision/eye phenotype	Leprosy, association with|Lung cancer survival, association with|Mannose-binding protein deficiency, association|Placental malaria, susceptibility to, association with|Systemic lupus erythematosus, association with|Tuberculosis, protection against, association with|Type 2 diabetes, association with|Ulcerative colitis, association with.|Vulvovaginal candidiasis, recurrent, association with|Lepromatous leprosy, protection against, association with|Kawasaki disease, association with|Antiphospholipid syndrome, association with|Bacterial infection, increased risk, association with|Colon cancer, association with|Crohn's disease, in children, association with|Dental caries, association with.|HIV-1 infection, increased susceptibility, association with|HIV-1 infection, susceptibility, association|Increased serum MBL level |Infection, in children, association with.,Usher syndrome II|Usher syndrome 1f|Usher syndrome 1|Lipid levels in hyperlipidaemia, association with|Hearing loss, non-syndromic|Deafness, non-syndromic, autosomal recessive|Deafness, non-syndromic |Deafness  	COSMIC,ICGC,
chr4	66493817	66493817	-	A	intronic	EPHA5	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	nervous system phenotype	Mental retardation|Dravet syndrome  |Attention deficit hyperactivity disorder & learning disabilities|Alzheimer disease  	ICGC,
chr3	22487313	22487313	A	G	intergenic	ZNF385D-AS2,UBE2E2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	ICGC,
chr10	21971185	21971185	C	T	exonic	MLLT10	synonymous	SNV	-	-	9.102e-05	6.462e-05	rs778461159	4.992e-05	-	-	-	-	ACC|1|90|0.01111	-	-	-	-	-	TCGA,
chr4	70242416	70242416	A	G	intergenic	UGT2B28,UGT2B4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Null allele|Circulating steroid levels, association with,-	ICGC,
chr17	39552667	39552667	C	A	intronic	KRT31	unknown	SNV	-	-	-	-	-	-	-	-	-	COSM5342932	-	-	-	-	-	Autism spectrum disorder|Altered splicing	COSMIC,COSMIC,
chr4	30541426	30541426	C	T	intergenic	MIR4275,PCDH7	unknown	SNV	-	-	-	0.1672	rs6826881	-	0.217452	-	0.210	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr5	6547143	6547143	C	T	intergenic	UBE2QL1,LINC01018	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	Renal cell carcinoma,-	ICGC,
chr5	178554387	178554387	G	A	intronic	ADAMTS2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype	Ehlers-Danlos syndrome VIIc	ICGC,
chr8	63466347	63466347	T	G	intronic	NKAIN3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Dravet syndrome   	ICGC,
chr18	7052013	7052013	G	T	intronic	LAMA1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	mortality/aging	High myopia, increased risk, association with|Intellectual disability  |Pancreatic cancer 	ICGC,
chr20	2187715	2187715	G	T	UTR5	LOC388780	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-JP|1|585|0.00171	-	-	-	-	ICGC,
chrX	81635883	81635883	C	T	intergenic	SH3BGRL,POU3F4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN18846159	-	-	-	-	-,integument phenotype	-,X-linked mixed deafness|X-linked deafness|Sensorineural hearing loss  |Mixed hearing loss |Hearing loss, X-linked nonsyndromic|Hearing loss & mental retardation	COSMIC,
chr16	10270573	10270573	GG	AA	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr5	101494700	101494700	C	T	intergenic	ST8SIA4,SLCO4C1	unknown	SNV	-	-	-	-	rs180751411	-	0.000199681	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	-,-	ICGC,
chr13	61281086	61281086	C	T	intergenic	LINC00378,MIR3169	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr4	46419805	46419805	A	C	intergenic	GABRA2,COX7B2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17565190	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,-	-,-	COSMIC,ICGC,
chr1	90779720	90779720	C	T	intergenic	ZNF326,BARHL2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	Schizophrenia,-	ICGC,
chr10	67386782	67386782	T	C	ncRNA_intronic	LOC101928913	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23589793	-	ESAD-UK|1|301|0.00332	-	-	-	-	COSMIC,ICGC,
chr4	126173918	126173918	G	A	intergenic	ANKRD50,FAT4	unknown	SNV	-	-	-	0.0006	rs571285768	-	0.000399361	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,mortality/aging	Schizophrenia,Periventricular neuronal heterotopia|Schizophrenia	ICGC,
chr13	87584738	87584738	C	A	intergenic	SLITRK6,MIR4500HG	unknown	SNV	-	-	-	0.0657	rs9523884	-	0.0569089	-	0.051	-	-	ESAD-UK|1|301|0.00332	-	-	behavior/neurological phenotype,-	High myopia and sensorineural deafness,-	ICGC,
chr6	87445261	87445261	G	A	intergenic	SNHG5,HTR1E	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr20	34707406	34707406	C	T	intronic	EPB41L1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	nervous system phenotype	Autism spectrum disorder|Intellectual disability, nonsyndromic|Schizophrenia	ICGC,
chr6	166986294	166986294	A	G	intronic	RPS6KA2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	-	ICGC,
chr15	97327401	97327401	C	A	exonic	SPATA8	nonsynonymous	SNV	0.0	0.506	-	-	-	-	-	-	-	COSM4058063	STAD|1|395|0.00253,STES|1|395|0.00253	STAD-US|1|289|0.00346	-	-	-	Potential protein deficiency	COSMIC,TCGA,ICGC,
chr4	29660521	29660521	C	T	intergenic	MIR4275,PCDH7	unknown	SNV	-	-	-	3.234e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	110883791	110883791	A	C	exonic	RBM15	synonymous	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging	Acute megakaryocytic leukaemia	ICGC,
chr10	55887918	55887918	A	G	intronic	PCDH15	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	vision/eye phenotype	Usher syndrome II|Usher syndrome 1f|Usher syndrome 1|Lipid levels in hyperlipidaemia, association with|Hearing loss, non-syndromic|Deafness, non-syndromic, autosomal recessive|Deafness, non-syndromic |Deafness  	ICGC,
chrX	38423651	38423651	C	A	intronic	TSPAN7	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26721520	-	BRCA-FR|1|72|0.01389	-	-	-	Rolandic epilepsy |Oligozoospermia|Mental retardation, X-linked|Intellectual disability, nonsyndromic X-linked	COSMIC,ICGC,
chr11	120217088	120217088	T	C	intronic	ARHGEF12	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	hematopoietic system phenotype	Increased insulin sensitivity, association with	ICGC,
chr4	110772106	110772106	-	T	intronic	LRIT3	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	-	Stationary night blindness, complete congenital|Potential protein deficiency	ICGC,
chr8	116469357	116469357	G	T	intronic	TRPS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Tricho-rhino-phalangeal syndrome with supernumerary teeth|Tricho-rhino-phalangeal syndrome III|Tricho-rhino-phalangeal syndrome I|Tricho-rhino-phalangeal syndrome|Infantile scoliosis & developmental delay|Femoral neck width, association with|Ambras syndrome	ICGC,
chr16	12766360	12766360	C	T	intronic	CPPED1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	-	ICGC,
chr4	96317919	96317919	T	C	intronic	UNC5C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	mortality/aging	Colorectal cancer  |Reduced proapoptotic activity	ICGC,
chr13	42844973	42844973	T	C	intergenic	DGKH,AKAP11	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr6	64170927	64170927	C	T	intergenic	LGSN,PTP4A1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN4612738	-	-	-	-	-,-	-,-	COSMIC,COSMIC,
chr15	81283277	81283277	T	C	intergenic	MESDC2,MIR4514	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	embryogenesis phenotype,-	Germ cell tumour ,-	ICGC,
chr5	149537145	149537145	C	G	intergenic	PDGFRB,CDX1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	integument phenotype,hematopoietic system phenotype	Basal ganglia calcification, idiopathic|Myofibromatosis, infantile,Anorectal malformation	ICGC,
chr3	31282800	31282800	GG	AA	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr14	28679803	28679803	G	C	intergenic	LINC00645,FOXG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,integument phenotype	-,West syndrome |Rett-like syndrome|Rett syndrome|Refractory epilepsy & intellectual impairment|Microcephaly, mental retardation & thin genu of corpus callosum|Mental retardation, speech impairment & epilepsy|Mental retardation & speech impairment|Mental retardation & postnatal microcephaly|Mental retardation & callosum abnormalities|Mental retardation|Infantile spasms|Hemifacial microsomia|Generalized dystonia, athetosis and parkinsonism|Developmental delay, microcephaly & hypoplasia of the corpus callosum|Developmental delay, hypotonia, microcephaly & infantile spasms|Developmental delay & slow head growth|Agenesis of corpus callosum	ICGC,
chr1	70436331	70436331	A	C	intronic	LRRC7	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN4751709	-	MALY-DE|1|241|0.00415	-	-	mortality/aging	-	COSMIC,ICGC,
chr10	93390680	93390680	G	A	intronic	PPP1R3C	unknown	SNV	-	-	-	0.0948	rs3781228	-	0.107029	-	0.101	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Myoclonic epilepsy of Lafora, modifier of|Reduced expression	ICGC,
chr10	38185731	38185731	A	G	intergenic	ZNF248,ZNF25	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	ICGC,
chr7	64955431	64955431	T	C	ncRNA_intronic	LOC441242	unknown	SNV	-	-	-	0.0004	rs74894358	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr7	52446425	52446425	T	A	intergenic	COBL,POM121L12	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	nervous system phenotype,-	-,-	ICGC,
chr7	22037334	22037334	A	G	intergenic	CDCA7L,RAPGEF5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	Schizophrenia|Autism,-	ICGC,
chr4	23707266	23707266	C	T	intergenic	MIR548AJ2,PPARGC1A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Neovascularization in age-related macular degeneration, reduced risk|Left ventricular diastolic dysfunction in men, association with|Insulin resistance, association with|Increased risk for HCM|Hyperinsulinemia, HOMA-IR indices and abdominal obesity, association with|Huntington disease, age-at-onset in males, association with|Endurance-related phenotypes, association with|Diabetic nephropathy, association with|Diabetes, type 2, lower risk, association with|Diabetes, type 2, association with|Breast cancer|Body mass index, association with|Blood pressure, association with	ICGC,
chr6	154181342	154181342	C	T	intergenic	RGS17,OPRM1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,integument phenotype	-,Striatal dopamine response to alcohol|Post-operative pain response, association with|Pressure pain sensitivity in females, association with|Proinflammatory cytokine levels and health perception, association with|Reduced agonist potency|Reduced agonist potency, association with|Reduced expression|Reduced promoter activity|Smoking behaviour, increased susceptibility|Pain perception, association with|Increased promoter activity|Impaired receptor signalling|Addiction, association with|Altered beta-endorphin binding, association with|Altered reinforcement learning, association with|Altered trafficking and/or signalling|Decreased body mass index, association with|Decreased receptor expression|Drug intake, association with |Epilepsy|Epilepsy, association with 	ICGC,
chr3	107212231	107212231	A	G	intergenic	LOC101929607,BBX	unknown	SNV	-	-	-	3.23e-05	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,skeleton phenotype	-,-	ICGC,
chr6	73663814	73663814	C	A	intronic	KCNQ5	unknown	SNV	-	-	-	0.1910	rs13206405	-	0.179912	-	0.181	-	-	LAML-KR|1|205|0.00488	-	-	-	Schizophrenia	ICGC,
chr17	72170071	72170071	-	A	intergenic	LINC00469,RPL38	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	-,-	ICGC,
chr2	34929457	34929457	G	T	intergenic	MYADML,LOC100288911	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5502586	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr6	16389145	16389145	A	-	intronic	ATXN1	unknown	deletion	-	-	-	3.242e-05	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Spinocerebellar ataxia 1|Schizophrenia, association with |Maculopathy with spinocerebellar ataxia type 1.|Intellectual disability & behavioural abnormalities|Azoospermia, association with|Amyotrophic lateral sclerosis	ICGC,
chr1	114976275	114976277	TTC	-	exonic	TRIM33	nonframeshift	deletion	-	-	-	-	-	-	-	-	-	COSM258629	COADREAD|1|489|0.00204,READ|1|122|0.00820	STAD-US|1|289|0.00346	-	-	mortality/aging	-	COSMIC,ICGC,
chr5	101144664	101144664	C	T	intergenic	ST8SIA4,SLCO4C1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	mortality/aging,-	-,-	ICGC,
chr4	94026967	94026967	T	C	intronic	GRID2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging	Cerebellar ataxia & tonic upgaze|Cerebellar ataxia and atrophy|Schizophrenia|Spastic paraplegia, complicated	ICGC,
chr16	64424221	64424221	A	-	intergenic	NONE,CDH11	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,integument phenotype	-,-	ICGC,
chr1	161793257	161793257	A	G	intronic	ATF6	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6005413	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging	Diabetes, type 2, association with |Fasting plasma glucose level 	COSMIC,ICGC,
chr7	55078420	55078420	T	A	intergenic	LOC100996654,EGFR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,integument phenotype	-,Squamous cell carcinoma of head & neck |Reduced transcription|Lymph node metastasis and high-grade tumours in breast cancer, association with|Lung cancer, susceptibility to|Lung cancer, association with |Lung cancer prognosis, association with|Lung cancer|Glioblastoma, risk, association with|Gefitinib toxicity, association with|Acute coronary syndrome, association with|Altered transmembrane signaling|Bladder cancer, association with |Breast cancer, association with|Colorectal carcinoma prognosis, association with|Dilated cardiomyopathy, association with	ICGC,
chrX	111195456	111195456	A	G	exonic	TRPC5	nonsynonymous	SNV	0.0	1.0	-	-	-	-	-	-	-	COSM1113270	UCEC|1|248|0.00403	UCEC-US|1|250|0.00400	-	-	behavior/neurological phenotype	Hyperinsulinism|Intellectual disability  |Sertoli-cell-only syndrome	COSMIC,TCGA,ICGC,
chr17	49932014	49932014	C	T	intronic	CA10	unknown	SNV	-	-	-	0.0628	rs9902460	-	0.0626997	-	0.029	-	-	MELA-AU|1|183|0.00546	-	-	-	Schizophrenia	ICGC,
chr13	23608288	23608288	C	T	intergenic	BASP1P1,SGCG	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Muscular dystrophy, limb girdle 2D|Muscular dystrophy, limb girdle 2C|Muscular dystrophy, limb girdle|Muscular dystrophy|Cardiomyopathy and reduced dystrophin expression	ICGC,
chr3	158756407	158756407	G	A	intergenic	MFSD1,IQCJ	unknown	SNV	-	-	-	-	rs558743672	-	0.000199681	-	-	-	-	RECA-EU|1|422|0.00237	-	-	-,-	-,-	ICGC,
chr13	67351461	67351461	C	A	intronic	PCDH9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-	-	ICGC,
chr16	20043261	20043261	G	T	exonic	GPR139	stopgain	SNV	-	-	-	-	-	-	-	-	-	-	-	OV-US|1|118|0.00847	-	-	-	Autism|Schizophrenia    	ICGC,
chr13	60846858	60846858	C	T	intergenic	DIAPH3,TDRD3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	Autism  |Auditory neuropathy spectrum disorder|Auditory neuropathy,-	ICGC,
chr9	126749970	126749970	A	T	intergenic	DENND1A,LHX2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,integument phenotype	Polycystic ovary syndrome, increased risk,-	ICGC,
chr3	193250638	193250638	G	A	intronic	ATP13A4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Autism spectrum disorder  |Childhood apraxia of speech ?|Specific language impairment	ICGC,
chr4	106905928	106905928	C	T	intergenic	NPNT,TBCK	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	renal/urinary system phenotype,-	-,-	ICGC,
chr1	230828980	230828980	C	-	intronic	COG2	unknown	deletion	-	-	-	0.0008	rs772021326	-	-	-	-	-	-	GACA-JP|3|585|0.00513	-	-	mortality/aging	-	ICGC,
chr13	93722406	93722406	C	T	intergenic	GPC5,GPC6	unknown	SNV	-	-	-	0.0009	rs547712688	-	0.000399361	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Spina bifida  ,Omodysplasia|Pancreatic cancer 	ICGC,
chr20	31696010	31696010	A	G	intronic	BPIFB4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23151226	-	MALY-DE|1|241|0.00415	-	-	-	-	COSMIC,ICGC,
chr3	169688079	169688079	A	G	intronic	SEC62	unknown	SNV	-	-	-	0.0028	rs115832124	-	0.000998403	-	0.007	-	-	MALY-DE|1|241|0.00415	-	-	-	-	ICGC,
chr19	53628302	53628303	AT	-	intronic	ZNF415	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr6	134690745	134690745	G	A	intergenic	SGK1,LINC01010	unknown	SNV	-	-	-	0.2341	rs12199570	-	0.191693	-	0.138	-	-	LAML-KR|1|205|0.00488	-	-	growth/size phenotype,-	Reduced expression,-	ICGC,
chr21	10603374	10603374	G	A	intergenic	TEKT4P2,TPTE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Potential protein deficiency	ICGC,
chr3	58322573	58322573	C	T	intronic	PXK	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr3	82996404	82996404	C	T	intergenic	GBE1,LINC00971	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19042732	-	CLLE-ES|1|510|0.00196	-	-	mortality/aging,-	Potential protein deficiency|Polyglucosan body disease, relapsing-remitting form|Polyglucosan body disease, adult|Lethal multiple pterygium syndrome|Glycogen storage disease 4, non-lethal neuromuscular|Glycogen storage disease 4, neonatal|Glycogen storage disease 4|Autism spectrum disorder|Adult polyglucosan body disease,-	COSMIC,ICGC,
chr6	102693436	102693436	A	C	intergenic	GRIK2,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	behavior/neurological phenotype,-	Mental retardation, non-syndromic, autosomal recessive,-	ICGC,
chr4	41761135	41761135	T	G	intergenic	PHOX2B,LINC00682	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,-	Schizophrenia, association with|Neuroblastoma|Hirschsprung disease|Down syndrome, congenital central hypoventilation syndrome, and Hirschsprung disease.|Congenital central hypoventilation syndrome, late-onset|Central hypoventilation syndrome & Hirschsprung disease|Central hypoventilation syndrome,-	ICGC,
chrX	39393757	39393757	C	T	intergenic	LINC01282,BCOR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,Microphthalmia with associated anomalies|Oculofaciocardiodental syndrome|Potential protein deficiency	ICGC,
chr5	2995222	2995222	C	T	intergenic	C5orf38,LINC01377	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	58619903	58619903	G	A	intergenic	FANCL,LINC01122	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging,-	Oesophageal cancer|Fanconi anaemia,-	ICGC,
chr11	63919788	63919788	G	T	exonic	MACROD1	nonsynonymous	SNV	0.03	0.167	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr13	104726469	104726469	G	A	intergenic	MIR548AS,DAOA-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	ICGC,
chr10	58630805	58630805	T	A	intergenic	ZWINT,MIR3924	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	ICGC,
chr20	5478894	5478894	G	A	downstream	LINC00654	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23265146	-	MALY-DE|1|241|0.00415	-	-	-	-	COSMIC,ICGC,
chr7	138768692	138768692	G	A	exonic	ZC3HAV1	synonymous	SNV	-	-	4.061e-06	-	-	-	-	-	-	-	BLCA|1|396|0.00253	-	-	-	-	Multiple sclerosis, susceptibility, association with 	TCGA,
chr13	29889530	29889530	C	A	intronic	MTUS2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7397965	-	PACA-AU|1|391|0.00256	-	-	-	-	COSMIC,ICGC,
chr15	46859203	46859203	A	C	intergenic	SQRDL,SEMA6D	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,immune system phenotype	-,Developmental language disorder 	ICGC,
chr6	68452582	68452582	T	A	intergenic	SLC25A51P1,BAI3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16864559	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	COSMIC,ICGC,
chr2	117135730	117135730	A	G	intergenic	DPP10,DDX18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	Autism spectrum disorder,-	ICGC,
chr10	104936753	104936753	T	-	intronic	NT5C2	unknown	deletion	-	-	-	0.0021	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408,MALY-DE|1|241|0.00415	-	-	-	Spastic paraplegia 65	ICGC,
chr15	81133475	81133475	G	A	intronic	CEMIP	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr17	25472347	25472347	G	A	intergenic	NONE,MIR4522	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr7	80846377	80846377	C	T	intergenic	SEMA3C,HGF	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,mortality/aging	-,Systemic sclerosis with end-stage lung disease, assoc with|Lymphoedema |Hearing loss, non-syndromic|Breast cancer, earlier onset, association with	ICGC,
chr20	29505169	29505169	C	A	intergenic	NONE,FRG1B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LINC-JP|1|394|0.00254	-	-	-,-	-,-	ICGC,
chr8	124083111	124083111	G	A	intergenic	DERL1,TBC1D31	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	ICGC,
chr8	142681895	142681895	T	C	intergenic	MROH5,MIR4472-1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23773114	-	ORCA-IN|1|178|0.00562	-	-	-,-	-,-	COSMIC,ICGC,
chr7	119561266	119561266	T	A	intergenic	ANKRD7,KCND2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,integument phenotype	-,Epilepsy, temporal lobe	ICGC,
chr8	105957573	105957573	T	C	intergenic	LRP12,ZFPM2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16564575	-	PACA-CA|1|268|0.00373	-	-	-,integument phenotype	-,Atrial septal defect & gonadal dysgenesis|Diaphragmatic hernia, congenital|Double outlet right ventricle |Gonadal dysgenesis |Reduced activity|Tetralogy of Fallot 	COSMIC,ICGC,
chr11	68112017	68112017	G	T	intronic	LRP5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging	Osteoporosis|Osteoporosis & hyperlipidaemia |Osteoporosis-pseudoglioma syndrome|Osteoporosis, association with |Osteoporosis, primary|Osteosclerosis|Osteosclerosis.|Peak bone mass in non-sedentary men, association with|Polycystic liver disease|Reduced Norrin signalling activity|Retinopathy of prematurity |Osteopetrosis|Lumbar spine bone-mineral content, association with|Lumbar spine bone mineral density, association with|Endosteal hyperostosis|Exudative vitreoretinopathy|Fractures in men, association with|High bone mass|High bone mass trait|Higher femoral neck bone mineral density, association with|Hypercholesterolaemia, increased risk, association with|Increased LRP5 signalling|Lower BMD in Japanese male workers, association with|Lower femoral neck bone mineral density, association with|Lower volumetric bone mineral density in women, association with	ICGC,
chr7	64080340	64080340	-	A	intergenic	LOC100128885,ZNF107	unknown	insertion	-	-	-	3.358e-05	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	ICGC,
chr20	6951044	6951044	G	A	intergenic	BMP2,LINC01428	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,-	Wolff-Parkinson-White syndrome|Wolff-Parkinson-White & Alagille syndrome|Thymoma and autoimmune disease |Reduced fat and increased muscle mass, association with|Orofacial cleft palate|Decreased mRNA stability|Colorectal cancer, increased risk, association with|Cleft palate  |Brachydactyly type A2|Bone mass, association with ,-	ICGC,
chr4	181285961	181285961	G	T	intergenic	NONE,LINC00290	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7757126	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	COSMIC,ICGC,
chr1	75606661	75606661	C	T	intronic	LHX8	unknown	SNV	-	-	4.063e-06	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Cleft lip 	ICGC,
chr7	107963710	107963710	T	A	intronic	NRCAM	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	-	ICGC,
chr2	87467664	87467664	CC	TT	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr6	65078142	65078142	C	A	intronic	EYS	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	Cone-rod dystrophy, autosomal recessive.|Leber congenital amaurosis|Retinitis pigmentosa|Retinitis pigmentosa, autosomal recessive |Retinitis pigmentosa, autosomal recessive/Leber congenital amaurosis	ICGC,
chr19	54062476	54062477	AT	-	intronic	ZNF331	unknown	deletion	-	-	-	0.0008	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr12	48909428	48909428	C	T	intergenic	C12orf54,OR8S1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr6	73230020	73230020	T	A	intergenic	RIMS1,KCNQ5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,-	Autism|Cone-rod dystrophy|Retinitis pigmentosa, autosomal dominant,Schizophrenia	ICGC,
chr14	96484505	96484512	CGGATTGA	-	intergenic	TUNAR,C14orf132	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr5	164864961	164864961	-	AAAAAAAAAG	intergenic	LOC102546299,CTB-7E3.1	unknown	insertion	-	-	-	0.0004	-	-	-	-	-	-	-	SKCA-BR|2|100|0.02000	-	-	-,-	-,-	ICGC,
chr4	24337884	24337884	C	T	intergenic	PPARGC1A,MIR573	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	mortality/aging,-	Neovascularization in age-related macular degeneration, reduced risk|Left ventricular diastolic dysfunction in men, association with|Insulin resistance, association with|Increased risk for HCM|Hyperinsulinemia, HOMA-IR indices and abdominal obesity, association with|Huntington disease, age-at-onset in males, association with|Endurance-related phenotypes, association with|Diabetic nephropathy, association with|Diabetes, type 2, lower risk, association with|Diabetes, type 2, association with|Breast cancer|Body mass index, association with|Blood pressure, association with,-	ICGC,
chr3	84228019	84228019	G	A	intergenic	NONE,LINC00971	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr16	51269663	51269663	C	T	intergenic	SALL1,LOC101927364	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-UK|1|140|0.00714	-	-	mortality/aging,-	Townes-Brocks syndrome|Renal hypodysplasia|Multiple congenital anomalies, CNS defects, cortical blindness, and absence of psychomotor development|Lenz microphthalmia syndrome|Goldenhar syndrome ,-	ICGC,
chr11	21708946	21708946	C	T	intergenic	NELL1,ANO5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Crohn disease, association with,Persistent asymptomatic hyperCKemia|Myopathy of posterior calf muscles, late-onset|Myopathy / muscular dystrophy|Myopathy  |Muscular dystrophy, limb girdle 2L.|Muscular dystrophy, limb girdle 2L|Muscular dystrophy  |Miyoshi-like distal myopathy|Miyoshi myopathy, non-dysferlin|Miyoshi distal myopathy.|Miyoshi distal myopathy|Gnathodiaphyseal dysplasia|Autism 	ICGC,
chr14	29147070	29147070	T	C	intergenic	LINC00645,FOXG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,West syndrome |Rett-like syndrome|Rett syndrome|Refractory epilepsy & intellectual impairment|Microcephaly, mental retardation & thin genu of corpus callosum|Mental retardation, speech impairment & epilepsy|Mental retardation & speech impairment|Mental retardation & postnatal microcephaly|Mental retardation & callosum abnormalities|Mental retardation|Infantile spasms|Hemifacial microsomia|Generalized dystonia, athetosis and parkinsonism|Developmental delay, microcephaly & hypoplasia of the corpus callosum|Developmental delay, hypotonia, microcephaly & infantile spasms|Developmental delay & slow head growth|Agenesis of corpus callosum	ICGC,
chr14	61878233	61878233	A	G	intronic	PRKCH	unknown	SNV	-	-	-	0.0028	rs149326156	-	0.00579073	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype	Sudden sensorineural hearing loss, increased risk|Silent lacunar infarction, association with|Gastric atrophy, association with|Cerebral infarction, association with	ICGC,
chr8	77328076	77328076	T	G	ncRNA_intronic	LINC01111	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr13	47469796	47469796	G	T	exonic	HTR2A	synonymous	SNV	-	-	-	-	-	-	-	-	-	-	LUAD|1|543|0.00184	-	-	-	skeleton phenotype	Bipolar I disorder, association with|Consolidation of episodic memory, association|Diminished hippocampal novelty processing, association with|Reduced sensitivity to clozapine, association with|Schizophrenia|Schizophrenia, association with|Suicidal behavior, association with|Systemic sclerosis, association with|Autism, association with|Attention deficit hyperactivity disorder, association with.|Affinity for and potency of atypical antipsychotic drugs, association|Age of onset, in temporal lobe epilepsy, association with.|Alcohol dependence and addiction, association with|Altered affinity for atypical antipsychotic drugs|Altered mRNA expression|Altered potency of atypical antipsychotic drugs|Altered splicing  |Anorexia nervosa, association with	TCGA,
chr4	18440019	18440019	G	A	intergenic	LCORL,SLIT2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16906557	-	PACA-CA|1|268|0.00373	-	-	-,mortality/aging	-,Schizophrenia  	COSMIC,ICGC,
chr1	32323308	32323308	G	T	intergenic	SPOCD1,PTP4A2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,hematopoietic system phenotype	-,-	ICGC,
chr9	82365462	82365462	T	G	intergenic	TLE4,LOC101927477	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr6	115645417	115645417	C	T	intergenic	HS3ST5,FRK	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,homeostasis/metabolism phenotype	-,Potential protein deficiency	ICGC,
chr2	214318734	214318734	C	T	intronic	SPAG16	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	reproductive system phenotype	Instability of central apparatus proteins	ICGC,
chr1	183533152	183533152	T	-	exonic	NCF2	frameshift	deletion	-	-	-	-	-	-	-	-	-	-	STAD|1|395|0.00253,STES|1|395|0.00253	STAD-US|1|289|0.00346	-	-	-	Systemic lupus erythematosus, susceptibility to|Systemic lupus erythematosus, increased risk, association with|Inflammatory bowel disease, very early onset, association with|Chronic granulomatous disease	TCGA,ICGC,
chr19	1054619	1054619	C	T	exonic	ABCA7	synonymous	SNV	-	-	1.221e-05	3.236e-05	rs141515421	2.502e-05	-	7.7e-05	-	-	-	LINC-JP|1|394|0.00254	-	-	homeostasis/metabolism phenotype	Alzheimer disease, late-onset, association with |Autism	ICGC,
chr10	57060357	57060357	A	C	intergenic	PCDH15,MTRNR2L5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24777549	-	GACA-CN|1|123|0.00813	-	-	vision/eye phenotype,-	Usher syndrome II|Usher syndrome 1f|Usher syndrome 1|Lipid levels in hyperlipidaemia, association with|Hearing loss, non-syndromic|Deafness, non-syndromic, autosomal recessive|Deafness, non-syndromic |Deafness  ,-	COSMIC,ICGC,
chr7	128567383	128567383	G	A	intergenic	KCP,IRF5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,hematopoietic system phenotype	-,Systemic sclerosis, association with|Systemic lupus erythematosus, association with|Sjogren syndrome, association with|Shorter transcript, association with|Rheumatoid arthritis, seronegative, association with|Multiple sclerosis, association with |Multiple sclerosis|Acute coronary syndrome, association with|Altered function|Altered melanoma immune responsiveness, association with.|Haemophagocytic lymphohistiocytosis, secondary, association with.|Inflammatory bowel disease, association with 	ICGC,
chr4	173395561	173395561	C	T	intronic	GALNTL6	unknown	SNV	-	-	-	3.23e-05	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr10	39094859	39094859	C	T	intergenic	ACTR3BP5,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr7	96561398	96561398	C	A	intergenic	SHFM1,DLX6-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2245719	-	LIRI-JP|1|258|0.00388	-	-	-,-	Squamous cell carcinoma, increased risk, association|Split-hand/split-foot malformation,-	COSMIC,ICGC,
chr1	72062590	72062590	T	C	intronic	NEGR1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1454612	-	LIRI-JP|1|258|0.00388	-	-	behavior/neurological phenotype	Obesity, association with|Dyslexia |Body mass index, association with|Attention deficit hyperactivity disorder	COSMIC,ICGC,
chr7	35434644	35434644	A	C	intergenic	LOC401324,HERPUD2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr13	39866805	39866805	GG	AA	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr11	35799756	35799756	C	T	intronic	TRIM44	unknown	SNV	-	-	-	3.227e-05	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493,BRCA-EU|1|569|0.00176	-	-	-	-	ICGC,
chr11	107342786	107342786	C	G	intergenic	CWF19L2,ALKBH8	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN391611	-	PBCA-DE|1|499|0.00200	-	-	-,normal phenotype	-,Potential protein deficiency	COSMIC,ICGC,
chr4	92546374	92546374	C	T	intergenic	CCSER1,GRID2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,mortality/aging	-,Cerebellar ataxia & tonic upgaze|Cerebellar ataxia and atrophy|Schizophrenia|Spastic paraplegia, complicated	ICGC,
chr14	49733625	49733625	C	T	intergenic	LINC00648,RPS29	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr12	9399331	9399331	C	A	intergenic	LINC00987,LOC642846	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26165395	-	PRAD-UK|1|140|0.00714	-	-	-,-	-,-	COSMIC,ICGC,
chr9	85977046	85977046	A	G	intronic	FRMD3	unknown	SNV	-	-	-	0.0003	rs139731798	-	0.000399361	-	-	-	-	LAML-KR|1|205|0.00488	-	-	-	-	ICGC,
chr1	154209607	154209607	G	A	exonic	UBAP2L	unknown	SNV	0.101	0.997	-	-	-	-	-	-	-	COSM4221852	-	-	-	-	reproductive system phenotype	-	COSMIC,COSMIC,COSMIC,
chr8	72497065	72497065	G	A	intergenic	EYA1,MSC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,mortality/aging	Oto-facio-cervical syndrome|Peters' anomaly with cataracts|Renal hypodysplasia|Renal malformation|Ureteropelvic junction obstruction and reduced renal function|Iris anomaly|Hearing loss?|Deafness  |Cayler's cardiofacial syndrome|Cataract, autosomal dominant|Branchio-oto-renal syndrome|Branchio-oto-renal / branchiootic syndrome|Branchio-otic syndrome,-	ICGC,
chr5	153111536	153111536	A	G	intronic	GRIA1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype	Intellectual disability  	ICGC,
chr15	38186384	38186384	C	T	intergenic	MEIS2,TMCO5A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	Cleft palate & cardiac septum ,-	ICGC,
chr11	22059819	22059819	T	C	intergenic	NELL1,ANO5	unknown	SNV	-	-	-	0.5540	rs7109244	-	0.560304	-	0.514	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	Crohn disease, association with,Persistent asymptomatic hyperCKemia|Myopathy of posterior calf muscles, late-onset|Myopathy / muscular dystrophy|Myopathy  |Muscular dystrophy, limb girdle 2L.|Muscular dystrophy, limb girdle 2L|Muscular dystrophy  |Miyoshi-like distal myopathy|Miyoshi myopathy, non-dysferlin|Miyoshi distal myopathy.|Miyoshi distal myopathy|Gnathodiaphyseal dysplasia|Autism 	ICGC,
chr16	25638593	25638593	C	T	intergenic	ZKSCAN2,HS3ST4	unknown	SNV	-	-	-	-	rs772239049	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr18	62554132	62554132	G	C	intergenic	LOC284294,CDH7	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22471405	-	BRCA-UK|1|141|0.00709,BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr5	5949279	5949279	G	C	intergenic	ICE1,FLJ33360	unknown	SNV	-	-	-	0.1245	rs7737202	-	0.0728834	-	0.022	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr9	13070332	13070332	C	T	intergenic	LURAP1L,MPDZ	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	-,-	-,Retinitis pigmentosa |Leber congenital amaurosis  |Hydrocephalus|Autism	ICGC,
chr19	27866435	27866435	C	T	intergenic	NONE,LINC00662	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	28043071	28043071	A	C	intergenic	IFI6,FAM76A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26388039	-	PRAD-UK|1|140|0.00714	-	-	-,-	-,-	COSMIC,ICGC,
chr7	35517456	35517456	C	T	intergenic	LOC401324,HERPUD2	unknown	SNV	-	-	-	-	rs138433281	-	0.000199681	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	-,-	ICGC,
chr2	80981887	80981887	C	T	intergenic	CTNNA2,LOC100507201	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17786009	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	Schizophrenia,-	COSMIC,ICGC,
chr6	93343203	93343203	G	T	intergenic	CASC6,EPHA7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,nervous system phenotype	-,Development delay and dysmorphic features|Leukemia, risk, association with 	ICGC,
chr3	167659185	167659185	G	C	intergenic	LINC01330,GOLIM4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20756124	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr6	54060211	54060211	C	T	intronic	MLIP	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr12	50452116	50452116	G	A	intronic	ASIC1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	behavior/neurological phenotype	-	ICGC,
chr1	35347515	35347515	C	T	intronic	DLGAP3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Obsessive-compulsive disorder |Schizophrenia|Trichotillomania	ICGC,
chr8	130767038	130767038	T	G	intronic	GSDMC	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN14966010	-	ESAD-UK|1|301|0.00332	-	-	-	-	COSMIC,ICGC,
chr19	42364021	42364021	T	C	UTR5	RPS19	unknown	SNV	-	-	-	3.232e-05	-	-	-	-	-	-	-	-	Diamond-Blackfan_anemia	-	integument phenotype	Reduced expression, association with|Reduced expression|Hydrops fetalis, in Diamond-Blackfan anaemia.|Diamond-Blackfan anaemia	ClinVar,
chr1	211138735	211138735	T	G	intronic	KCNH1	unknown	SNV	-	-	-	3.229e-05	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	behavior/neurological phenotype	-	ICGC,
chrX	102856323	102856323	C	T	intergenic	TCEAL4,TCEAL3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	-,-	-,-	ICGC,
chrX	29715994	29715994	C	A	intronic	IL1RAPL1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6497903	-	LIRI-JP|1|258|0.00388	-	-	nervous system phenotype	Mental retardation, X-linked|Mental retardation with dysmorphic features|Mental retardation and autism|Intellectual disability, X-linked with dysmorphism|Intellectual disability, X-linked|Intellectual disability, dysmorphic signs, deafness & behavioural problems|Intellectual disability & behavioural problems|Developmental delay, learning disability & microcephaly|Autism spectrum disorder  |Asperger syndrome	COSMIC,ICGC,
chrX	42933908	42933908	C	T	intergenic	PPP1R2P9,LOC101927501	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr6	49730812	49730812	A	G	intergenic	CRISP3,PGK2	unknown	SNV	-	-	-	0.0900	rs1535289	-	0.413738	-	0.094	-	-	SKCA-BR|1|100|0.01000	-	-	reproductive system phenotype,reproductive system phenotype	-,-	ICGC,
chr4	168470017	168470017	T	C	intergenic	SPOCK3,ANXA10	unknown	SNV	-	-	-	-	rs570866671	-	0.000199681	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr12	108761764	108761764	C	T	intergenic	CMKLR1,LOC102723562	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype,-	-,-	ICGC,
chr4	148151075	148151075	C	T	intergenic	TTC29,EDNRA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Reduced pulmonary function, in cystic fibrosis, association with|Myocardial infarction|Migraine, association with|Intracranial aneurysm, increased risk, association with|Hypertension, protection against, association with |Hernia, diaphragmatic |Congenital absence of the vas deferens, association with|Breast cancer, susceptibility to, association with|Adrenal hyperplasia, macronodular, ACTH-independent	ICGC,
chr18	58451857	58451857	G	A	intergenic	MC4R,CDH20	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype,-	Obesity, severe|Reduced activity|Reduced function   |Reduced transcriptional activity|Weight loss after gastric bypass surgery, association with|Obesity, protection against, association with|Obesity, early onset|Obesity, autosomal dominant, association with|Obesity, autosomal dominant|Obesity, association with.|Obesity|Melanocortin-4 receptor variant|Decreased body mass, association with,-	ICGC,
chr3	12130389	12130391	AGG	-	intronic	SYN2	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	behavior/neurological phenotype	Autism spectrum disorder|Epilepsy  	ICGC,
chr12	9147152	9147152	C	T	intronic	KLRG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	normal phenotype	-	ICGC,
chr1	102328048	102328048	C	T	intronic	OLFM3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr2	207180850	207180850	G	T	intergenic	ZDBF2,ADAM23	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,mortality/aging	-,-	ICGC,
chr20	17618144	17618144	T	C	intronic	RRBP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr2	49623207	49623207	G	A	intergenic	FSHR,NRXN1	unknown	SNV	-	-	-	3.23e-05	rs538341154	-	0.000199681	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,mortality/aging	Ovarian hyperstimulation syndrome|Ovarian hyperstimulation syndrome, association with|PCOS, association|PCOS, association with|Poor ovarian response to gonadotrophin stimulation, association|Premature ovarian failure|Premature ovarian failure, association with|Premature ovarian failure, early-onset|Primary amenorrhea|Reduced mRNA and protein expression, association with|Secondary amenorrhea|Serum FSH levels, association with|Sterility|Twinning, dizygotic|Ovarian hyperstimulation response, association with|Ovarian cancer, association with|Ovarian cancer susceptibility, association with|Decr. total testes volume and altered serum reproductive hormone levels, in men, association with.|Decreased promoter activity|Endometriosis risk, association with|Endometriosis, risk, association with|FSHR activation|FSHR inactivation|Hormone levels in PCOS, association with|Hypergonadotropic hypogonadism|Menstrual cycle, length, association with|Lower basal FSH level, association with|Increased serum FSH levels, association with|Increased promoter activity|Hypertension, female, association with|Hypergonadotropic ovarian failure,Hypotonia|Hypotonia & encephalopathy|Increased white matter volume, association with|Intellectual disability  |Intellectual disability & attention deficit hyperactivity disorder|Intellectual disability & hearing loss|Intellectual disability & pervasive developmental disorder|Intellectual disability and autism|Intellectual disability, nonsyndromic |Intellectual disability, seizures, dysmorphisms & language delay|Growth retardation  |Epilepsy, myoclonic seizures & speech delay|Developmental disorder|Developmental disorder & attention deficit hyperactivity disorder|Developmental disorder, seizures & attention deficit hyperactivity disorder|Developmental/intellectual disability, hypotonia & dysmorphic features|Disorder of muscle, ligament & fascia|Encephalopathy  |Epilepsy  |Epilepsy with cognitive impairment / autism spectrum disorder|Epilepsy with focal seizures|Epilepsy, generalised |Intellectual disability, seizures, language delay & hypotonia|Language delay|Learning difficulties|Respiratory distress & sepsis|Respiratory distress syndrome|Schizophrenia |Schizophrenia, childhood onset |Schizophrenia, disorganised type|Seizures, generalized tonic-clonic & attention deficit hyperactivity disorder|Sensory integration disorder & attention deficit hyperactivity disorder|Speech delay & social communication difficulties|Tourette syndrome|Pervasive developmental disorder / hypotonia|Pervasive developmental disorder|Pervasive developmental delay / mental retardation, lack of coordination & hearing loss|Learning difficulties, ADHD & autism|Mental retardation|Mental retardation, autism, vertebral malformations|Mental retardation, Pitt-Hopkins-like|Microcephaly & mental retardation|Multiple congenital anomalies  |Multiple disabilities|Myoclonic epilepsy   |Neurodevelopmental disorder  |Vertebral anomalies|Developmental delay, speech delay & social communication difficulties|Attention deficit hyperactivity disorder |Autism spectrum disorder, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability & language delay|Autism spectrum disorder, intellectual disability, dysmorphisms, developmental delay & language delay|Autism spectrum disorder, intellectual disability, seizures & developmental delay|Autism spectrum disorder, intellectual disability, seizures, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability, seizures, dysmorphisms & language delay|Autism spectrum disorder, seizures, developmental delay & language delay|Autism, intellectual disability & attention deficit hyperactivity disorder|Autistic disorder|Autism spectrum disorder with developmental & speech delay|Autism spectrum disorder & seizures|Autism spectrum disorder & language delay|Autism |Autism & learning difficulties|Autism & mental retardation|Autism & seizures|Autism spectrum disorder|Autism spectrum disorder & attention deficit hyperactivity disorder|Autism spectrum disorder & developmental delay|Autism spectrum disorder & dysmorphic features|Autism spectrum disorder & intellectual disability|Behavioural problems|Congenital heart defect  |Craniofacial dysmorphism|Developmental delay & speech/motor delay|Developmental delay with early-onset epilepsy|Developmental delay, dysmorphic features & short stature|Developmental delay, epilepsy, autism|Developmental delay, language delay & hypotonia|Developmental delay, learning difficulties, ADHD|Developmental delay, microcephaly & behavioural problems|Developmental delay, pulmonic stenosis & autism spectrum disorder|Developmental delay, short stature and diaphragmatic hernia|Developmental delay, speech delay & microcephaly|Developmental delay & seizures|Developmental delay & seizure disorder|Cystic hygroma, hydrops & micrognathia|Cystic hygroma, shortened upper limbs & fetal demise|Developmental & speech delay|Developmental delay|Developmental delay / autism|Developmental delay & autism|Developmental delay & dysmorphic features|Developmental delay & epilepsy|Developmental delay & hypotonia|Developmental delay & multiple congenital anomalies	ICGC,
chrX	146106523	146106523	G	C	intergenic	CXorf51A,MIR506	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23308229	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	COSMIC,ICGC,
chr2	207906419	207906419	G	A	intergenic	CPO,KLF7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,integument phenotype	-,Diabetes, type 2, association with	ICGC,
chr8	60560999	60560999	G	A	intergenic	TOX,CA8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	hematopoietic system phenotype,behavior/neurological phenotype	Pulmonary tuberculosis, association  with,Ataxia, cerebellar hypoplasia|Cerebellar ataxia and quadrupedal locomotion|Cerebellar ataxia, mental retardation & dysequilibrium syndrome 3	ICGC,
chr2	154071723	154071723	C	T	intergenic	ARL6IP6,RPRM	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	Autism spectrum disorder|Bardet-Biedl like features,-	ICGC,
chr11	376565	376565	G	C	exonic	B4GALNT4	nonsynonymous	SNV	0.274	0.335	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr19	51849476	51849476	T	C	intronic	ETFB	unknown	SNV	-	-	-	0.0755	rs74176124	-	-	-	-	COSN17498427	-	SKCA-BR|1|100|0.01000	-	-	-	Glutaricaciduria 2b|Glutaricacidaemia 2b|Glutaricacidaemia 2 |Electron transfer flavoprotein deficiency	COSMIC,ICGC,
chr13	41282500	41282500	G	A	intergenic	FOXO1,MIR320D1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	-,-	ICGC,
chr11	91310100	91310100	C	T	intergenic	DISC1FP1,FAT3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,vision/eye phenotype	-,Autism spectrum disorder	ICGC,
chrX	124571351	124571351	G	A	intergenic	LOC100129520,LOC101928495	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	98408493	98408493	G	C	ncRNA_intronic	STPG2-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr6	122626384	122626384	G	A	intergenic	GJA1,HSF2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,mortality/aging	Sudden infant death syndrome |Oculodentodigital dysplasia with primary lymphoedema|Oculodentodigital dysplasia|Neurologic dysfunction|Heart malformations|Hallerman-Streiff/ODDD syndrome|Ectodermal & oculodentodigital dysplasia with skin hyperkeratosis|Attenuated phenotype in glaucoma |Cleft lip in oculodentodigital dysplasia.|Craniometaphyseal dysplasia|Deafness|Deafness, autosomal recessive,Idiopathic azoospermia	ICGC,
chr1	64384317	64384317	C	T	intronic	ROR1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	-	ICGC,
chr7	139735642	139735642	-	GAGGAAGAGGAGGAGGAGGGGGAAG	intronic	PARP12	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr6	123275832	123275832	G	A	intergenic	SMPDL3A,CLVS2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr10	107980833	107980833	T	C	intergenic	LOC101927549,SORCS1	unknown	SNV	-	-	-	0.0033	rs12217703	-	0.00838658	-	0.022	-	-	LAML-KR|1|205|0.00488	-	-	-,other phenotype	-,Autism 	ICGC,
chrX	121100083	121100083	G	A	intergenic	GLUD2,GRIA3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	Parkinson disease, earlier onset, association with,Mental retardation, X-linked|Intellectual disability, X-linked with facial dysmorphism|Intellectual disability, X-linked|Autism spectrum disorder	ICGC,
chr15	84208964	84208964	G	A	intronic	SH3GL3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-	-	ICGC,
chr9	125672470	125672470	G	A	UTR3	ZBTB6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr7	24086287	24086287	G	A	intergenic	STK31,NPY	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,skeleton phenotype	-,Major depressive disorder, association with|Metabolic syndrome in coronary artery disease, association with|Schizophrenia, association with|Serum leptin levels, and waist-hip ratio, in women, association with.|Hypertension, association with|Huntington disease, age at onset, association with|Elevated plasma LDL, association with|Diabetes, type II,  in middle-aged subjects, association with|Coronary artery disease, association with|Altered response to growth factors, association with|Alcohol dependence, association with|Stress response	ICGC,
chr8	13823232	13823232	T	G	intergenic	C8orf48,SGCZ	unknown	SNV	-	-	-	0.0004	rs376315400	-	-	-	0.022	-	-	LICA-CN|1|402|0.00249	-	-	-,-	-,Cervical artery dissection	ICGC,
chr11	9318867	9318867	C	A	intronic	TMEM41B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	-	ICGC,
chr15	46791270	46791270	A	G	intergenic	SQRDL,SEMA6D	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2493395	-	-	-	-	-,immune system phenotype	-,Developmental language disorder 	COSMIC,
chr16	16745634	16745634	G	A	intergenic	NPIPA7,XYLT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,Decreased serum glycosaminoglycan levels, association with|Desbuquois dysplasia type 2|Diabetes, type 1, protection, association |Diabetic nephropathy protection |Increased serum XT1 activity in pseudoxanthoma elasticum, association|Short stature & intellectual disability	ICGC,
chr1	242407225	242407225	A	-	intronic	PLD5	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	-	ICGC,
chr2	147437990	147437990	G	T	intergenic	PABPC1P2,ACVR2A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23881449	-	ORCA-IN|1|178|0.00562	-	-	-,mortality/aging	-,-	COSMIC,ICGC,
chr11	93971018	93971018	G	A	intergenic	PANX1,FOLR4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	respiratory system phenotype,-	-,-	ICGC,
chr6	157460497	157460497	C	T	intronic	ARID1B	unknown	SNV	-	-	-	3.229e-05	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	Schizophrenia|Nicolaides-Baraitser syndrome|Intellectual disability, plantar fat pads & facial dysmorphism|Intellectual disability, corpus callosum abnormalities, speech impairment & autism|Intellectual disability & speech impairment|Intellectual disability & agenesis of corpus callossum|Intellectual disability  |Developmental delay, dysmorphic features, dysgenesis of the corpus callosum, limb anomalies & genital hypoplasia|Coffin-Siris syndrome|Autism?|Autism spectrum disorder|Autism	ICGC,
chr5	115376145	115376145	C	T	intergenic	AQPEP,ARL14EPL	unknown	SNV	-	-	-	0.0008	rs186305650	-	0.00159744	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	180713803	180713803	-	TTTTTTTT	intronic	XPR1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	immune system phenotype	-	ICGC,
chr9	1923515	1923515	C	T	intergenic	DMRT2,SMARCA2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16294123	-	PRAD-CA|1|308|0.00325	-	-	mortality/aging,integument phenotype	-,Short stature|Schizophrenia, association with   |Nicholaides-Baraitser syndrome|Multiple congenital anomalies  |Lung cancer, association with|Intellectual disabilty, short stature and dysmorphisms|Hepatocellular carcinoma, in smokers, association with.|Hepatocellular carcinoma, association with.|Developmental delay & dysmorphic features|Developmental delay & autistic features|Developmental delay  |Coffin-Siris syndrome	COSMIC,ICGC,
chr15	35607462	35607462	G	T	intergenic	ANP32AP1,DPH6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	ICGC,
chr14	53780888	53780888	C	T	intergenic	LOC101927620,MIR5580	unknown	SNV	-	-	-	6.458e-05	-	-	-	-	-	COSN8660268	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr11	131688652	131688652	G	A	intronic	NTM	unknown	SNV	-	-	-	6.46e-05	rs553826542	-	0.000199681	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	Aortic aneurysm, thoracic & intracranial|Potential protein deficiency	ICGC,
chr11	55953734	55953734	T	G	intergenic	OR5J2,OR5T2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr5	73079005	73079005	G	T	intronic	ARHGEF28	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	Amyotrophic lateral sclerosis  	ICGC,
chr12	43021260	43021260	A	C	ncRNA_intronic	LOC101927058	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr4	166838376	166838376	C	T	intronic	TLL1	unknown	SNV	-	-	-	0.0004	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	integument phenotype	Hyperinsulinism|Atrial septal defect  	ICGC,
chr8	5786235	5786235	T	A	intergenic	CSMD1,LOC100287015	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	Schizophrenia, association with |Hyperinsulinism|Autism|Attention deficit hyperactivity disorder ,-	ICGC,
chr5	52792683	52792683	A	C	intergenic	FST,NDUFS4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20411547	-	COCA-CN|1|321|0.00312	-	-	integument phenotype,integument phenotype	-,Mitochondrial respiratory disease|Leigh syndrome|Complex I deficiency|Complex 1 deficiency|Complex 1 and 3 deficiency, combined	COSMIC,ICGC,
chr8	3862017	3862017	-	T	intronic	CSMD1	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN22833569	-	-	-	-	-	Schizophrenia, association with |Hyperinsulinism|Autism|Attention deficit hyperactivity disorder 	COSMIC,
chr3	180589193	180589193	C	T	intergenic	LOC101928882,FXR1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,-	ICGC,
chr15	72041468	72041468	G	A	intronic	THSD4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr5	87359498	87359498	C	T	intergenic	CCNH,TMEM161B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	137158681	137158681	A	T	intergenic	IL20RB,SOX14	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	hematopoietic system phenotype,no phenotypic analysis	Autism,-	ICGC,
chr8	50549962	50549962	A	C	intergenic	C8orf22,SNTG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,Autism|Intellectual disability, cleft palate, hearing loss and dysmorphisms	ICGC,
chrX	16507717	16507717	A	G	intergenic	MAGEB17,CTPS2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-,normal phenotype	-,-	ICGC,
chr2	79011264	79011264	G	A	intergenic	LOC101927967,REG3G	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr12	13190136	13190140	TTTGA	-	intergenic	HTR7P1,KIAA1467	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|6|67|0.08955	-	-	-,-	-,-	ICGC,
chr2	6447304	6447304	-	TTTTATTT	intergenic	LOC400940,LINC01247	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr8	108311119	108311119	C	T	intronic	ANGPT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Stroke, reduced risk, association with	ICGC,
chr6	168956482	168956482	C	T	intronic	SMOC2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Dental developmental defects|Oligodontia 	ICGC,
chr4	75987106	75987106	G	A	intergenic	PARM1,LOC441025	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Schizophrenia,-	ICGC,
chr2	105606381	105606381	C	T	ncRNA_intronic	LOC102724691	unknown	SNV	-	-	-	-	rs757741524	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr5	26072969	26072969	C	T	intergenic	LOC340107,CDH9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	5276295	5276295	A	C	intergenic	LINC01249,LINC01248	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr1	232400459	232400459	C	-	intergenic	TSNAX-DISC1,SIPA1L2	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	-,-	-,-	ICGC,
chr6	24026110	24026110	G	A	intergenic	HDGFL1,NRSN1	unknown	SNV	-	-	-	0.1650	rs10946656	-	0.169329	-	0.159	COSN20508315	-	COCA-CN|1|321|0.00312	-	-	-,-	-,-	COSMIC,ICGC,
chr12	56934876	56934876	C	T	intronic	RBMS2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	-	-	ICGC,
chr12	25034321	25034321	G	A	exonic	BCAT1	stopgain	SNV	-	-	8.133e-06	-	rs754324341	1.659e-05	-	-	-	COSM3459467	SKCM|1|368|0.00272	SKCM-US|1|335|0.00299	-	-	-	Schizophrenia  	COSMIC,TCGA,ICGC,
chr3	142948682	142948682	G	A	intergenic	CHST2,SLC9A9	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19610702	-	-	-	-	immune system phenotype,-	-,Attention deficit hyperactivity disorder|Autism |Autism spectrum disorder  	COSMIC,
chr12	106248974	106248974	G	A	intergenic	CASC18,NUAK1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Autism 	ICGC,
chr8	68308618	68308618	C	T	intergenic	ARFGEF1,CPA6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-,-	-,Temporal lobe epilepsy, association with|Temporal lobe epilepsy|Reduced protein expression|Reduced activity|Potential protein deficiency|Febrile seizures|Duane retraction syndrome 1	ICGC,
chr2	132890062	132890062	G	C	intergenic	C2orf27B,ANKRD30BL	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9080796	-	OV-AU|1|93|0.01075	-	-	-,-	-,-	COSMIC,ICGC,
chr1	104113005	104113005	C	T	ncRNA_exonic	ACTG1P4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	NBL-US|1|419|0.00239	-	-	-	-	ICGC,
chr7	98890783	98890783	T	C	ncRNA_intronic	MYH16	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17387790	-	ESAD-UK|1|301|0.00332	-	-	-	-	COSMIC,ICGC,
chr8	113954371	113954371	T	A	intronic	CSMD3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Schizophrenia  |Colorectal cancer 	ICGC,
chr9	103402730	103402730	C	A	intergenic	MURC,LPPR1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	Cardiomyopathy, dilated,-	ICGC,
chr5	63910080	63910080	A	G	intergenic	RGS7BP,FAM159B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	behavior/neurological phenotype,-	-,-	ICGC,
chr18	36815981	36815981	C	A	ncRNA_intronic	LINC00669	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6121786	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr16	13905285	13905285	G	C	intergenic	SHISA9,ERCC4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Xeroderma pigmentosum (F)|Progeroid syndrome|Potential protein deficiency|Lung cancer, susceptibility to|Fanconi anaemia|Combined xeroderma pigmentosum, cockayne syndrome and fanconi anaemia|Cockayne syndrome|Breast cancer  |Breast and/or ovarian cancer|Bladder cancer, increased risk, association with	ICGC,
chr2	196000762	196000762	C	T	intergenic	LOC101927431,SLC39A10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	91373353	91373353	G	-	intronic	CCSER1	unknown	deletion	-	-	-	3.233e-05	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr14	67619367	67619367	C	T	intronic	GPHN	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Seizures |Schizophrenia|Molybdenum cofactor deficiency|Hyperekplexia|Epilepsy with cognitive impairment / autism spectrum disorder|Autism spectrum disorder & seizures|Autism spectrum disorder	ICGC,
chr14	82908982	82908982	T	-	intergenic	LOC101928559,NONE	unknown	deletion	-	-	-	0.0002	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr14	21074465	21074465	C	T	ncRNA_exonic	LOC254028	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr19	9390693	9390693	C	A	intergenic	OR7E24,ZNF699	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1773564	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr18	29793144	29793144	G	A	exonic	MEP1B	nonsynonymous	SNV	0.016	0.999	-	-	-	-	-	-	-	COSM5591835	-	-	-	-	mortality/aging	Breast cancer, increased risk  |Colorectal cancer, increased risk, association with	COSMIC,
chr7	111546629	111546629	C	T	intronic	DOCK4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr1	76680293	76680293	T	C	intronic	ST6GALNAC3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-	-	ICGC,
chr6	77928179	77928179	G	T	intergenic	IMPG1,HTR1B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,skeleton phenotype	Macular dystrophy, vitelliform,Suicidal ideation, in major depression, association with|Receptor variant|Alcohol dependence, association with|Alcohol and drug abuse, association with|Aggressive behaviour, association with	ICGC,
chr13	71954265	71954265	C	A	intergenic	LINC00348,DACH1	unknown	SNV	-	-	-	0.0001	rs750503440	-	-	-	-	-	-	ESAD-UK|1|301|0.00332,MALY-DE|1|241|0.00415	-	-	-,mortality/aging	-,Renal hypodysplasia	ICGC,
chr6	27733543	27733543	T	A	intergenic	LOC100131289,HIST1H2BL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	-,-	ICGC,
chr10	37703569	37703569	C	A	intergenic	LINC00993,MTRNR2L7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr7	154097292	154097292	G	A	intronic	DPP6	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2211517	-	LIRI-JP|1|258|0.00388	-	-	nervous system phenotype	Autism spectrum disorder  |Schizophrenia  |Ventricular fibrillation, idiopathic 	COSMIC,ICGC,
chr10	8165300	8165300	-	ATCTATCTATCTATC	intergenic	GATA3,LINC00708	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|2|67|0.02985	-	-	integument phenotype,-	Sensorineural hearing loss, facial dysmorphism & delayed psychomotor development|Hypoparathyroidism, deafness and renal dysplasia|Hypoparathyroidism and deafness|Acute lymphoblastic leukaemia, association with ,-	ICGC,
chr7	154555335	154555335	C	T	intronic	DPP6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	nervous system phenotype	Autism spectrum disorder  |Schizophrenia  |Ventricular fibrillation, idiopathic 	ICGC,
chr14	101947670	101947670	C	T	intergenic	MEG9,DIO3OS	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr6	74588760	74588760	C	T	intergenic	CD109,LOC101928516	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Gov platelet antigen variation,-	ICGC,
chr4	59212108	59212108	G	A	intergenic	IGFBP7-AS1,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr6	106420180	106420180	T	G	intergenic	PREP,PRDM1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17376158	-	ESAD-UK|1|301|0.00332	-	-	hematopoietic system phenotype,mortality/aging	-,Crohn's disease, increased risk, association with|Ulcerative colitis, reduced risk, association with  	COSMIC,ICGC,
chr17	54098390	54098390	G	A	intergenic	PCTP,ANKFN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	immune system phenotype,-	-,-	ICGC,
chr10	121735760	121735760	G	A	intergenic	MIR4682,PPAPDC1A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr2	58233972	58233972	A	G	intronic	VRK2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr16	75415096	75415096	C	A	intronic	CFDP1	unknown	SNV	-	-	-	0.2132	rs11149817	-	0.188498	-	0.174	-	-	ESAD-UK|1|301|0.00332,LAML-KR|2|205|0.00976	-	-	-	-	ICGC,
chr5	20898107	20898107	T	C	intergenic	CDH18,GUSBP1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5599739	-	LIRI-JP|1|258|0.00388	-	-	-,-	Anorectal malformation,-	COSMIC,ICGC,
chr6	132721360	132721360	A	G	intronic	MOXD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-	-	ICGC,
chr17	48201659	48201659	G	A	intronic	SAMD14	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr18	69558569	69558569	C	T	intergenic	LOC100505776,CBLN2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-,behavior/neurological phenotype	-,-	ICGC,
chr10	75254485	75254485	G	A	intronic	PPP3CB	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25582097	-	MALY-DE|1|241|0.00415	-	-	hematopoietic system phenotype	-	COSMIC,ICGC,
chr6	9539966	9539968	CTG	-	intergenic	LOC100506207,TFAP2A	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,integument phenotype	-,Schizophrenia, episodic, association |Orofacial clefting |Developmental delay/intellectual disability and nasolacrimal duct obstruction|Cisplatin resistance|Branchio-oculo-facial syndrome with thyroglossal duct cyst|Branchio-oculo-facial syndrome	ICGC,
chr16	20334326	20334326	A	G	intronic	GP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-JP|1|585|0.00171	-	-	endocrine/exocrine gland phenotype	Pancreatitis, reduced risk, association with  	ICGC,
chr4	130697196	130697196	-	TA	intergenic	LOC101927282,NONE	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr12	59667870	59667870	T	C	intergenic	LRIG3,SLC16A7	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5947768	-	LIRI-JP|1|258|0.00388	-	-	behavior/neurological phenotype,-	-,Autism spectrum disorder	COSMIC,ICGC,
chr7	37859054	37859054	A	T	intergenic	GPR141,NME8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Ciliary dyskinesia, primary|Reduced expression of d7 isoform|Schizophrenia	ICGC,
chr6	97227879	97227879	A	G	intergenic	FHL5,GPR63	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	reproductive system phenotype,-	-,-	ICGC,
chr19	38239738	38239738	G	A	intronic	ZNF573	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr11	126671987	126671987	G	A	intronic	KIRREL3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-	Autism|Intellectual disability|Jacobsen syndrome	ICGC,
chr8	35277971	35277971	C	T	intronic	UNC5D	unknown	SNV	-	-	-	3.231e-05	rs781548979	-	-	-	-	-	-	PEME-CA|1|112|0.00893	-	-	-	-	ICGC,
chr6	145436983	145436983	T	A	intergenic	UTRN,EPM2A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,mortality/aging	Arthrogryposis |Schizophrenia,Myoclonic epilepsy of Lafora|Epilepsy, progressive myoclonus	ICGC,
chrX	99618894	99618894	G	A	intronic	PCDH19	unknown	SNV	-	-	-	0	-	-	-	-	-	COSN19084636	-	RECA-EU|1|422|0.00237,CLLE-ES|1|510|0.00196	-	-	-	Tonic seizures|Seizures|Generalized tonic-clonic seizures|Focal seizures with secondary generalization|Focal epilepsy|Epileptic encephalopathy|Epilepsy, early-onset|Epilepsy and mental retardation limited to females|Epilepsy & mental retardation|Dravet syndrome  |Asperger syndrome	COSMIC,ICGC,
chr3	181398436	181398436	G	A	ncRNA_intronic	SOX2-OT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr2	81913333	81913333	C	T	intergenic	LOC100507201,LOC1720	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	132197685	132197685	C	T	intergenic	LINC01120,LOC401010	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-,-	-,-	ICGC,
chr10	60424204	60424204	T	-	intronic	BICC1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Cystic renal dysplasia	ICGC,
chr3	190801452	190801452	A	C	intergenic	SNAR-I,OSTN	unknown	SNV	-	-	-	0.1970	rs9917736	-	0.223043	-	0.188	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr6	126842674	126842674	C	T	intergenic	NONE,RSPO3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,-	ICGC,
chr13	65309306	65309306	T	C	intergenic	OR7E156P,PCDH9	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15778144	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr2	204532878	204532878	C	T	intergenic	RAPH1,CD28	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,hematopoietic system phenotype	-,-	ICGC,
chr3	42251577	42251577	-	GAGGA	exonic	TRAK1	frameshift	insertion	-	-	-	-	-	-	-	-	-	-	SARC|1|247|0.00405,THYM|2|123|0.01626	-	-	-	mortality/aging	-	TCGA,
chr1	194991561	194991561	A	G	intergenic	CDC73,KCNT2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Potential protein deficiency|Parathyroid carcinoma/adenoma|Parathyroid carcinoma.|Parathyroid carcinoma|Parathyroid cancer|Parathyroid adenoma.|Parathyroid adenoma |Hyperparathyroidism, primary.|Hyperparathyroidism, primary|Hyperparathyroidism, isolated|Hyperparathyroidism-jaw tumour syndrome.|Hyperparathyroidism-jaw tumour syndrome,-	ICGC,
chrX	124700005	124700005	G	A	intergenic	LOC100129520,LOC101928495	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr16	10833788	10833788	G	C	intergenic	TEKT5,NUBP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,-	ICGC,
chr2	9706343	9706343	C	G	intergenic	ADAM17,YWHAQ	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19077660	-	CLLE-ES|1|510|0.00196	-	-	integument phenotype,mortality/aging	Inflammatory skin & bowel disease,-	COSMIC,ICGC,
chr2	75998697	75998697	G	A	intergenic	GCFC2,LRRTM4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	227469442	227469442	G	A	intronic	CDC42BPA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	-	ICGC,
chr7	88263063	88263063	A	C	intergenic	STEAP4,ZNF804B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,-	Obesity, association with|Metabolic syndrome, association with,-	ICGC,
chr13	56145644	56145644	C	T	intergenic	MIR5007,PRR20A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr7	1477171	1477171	C	A	exonic	MICALL2	stopgain	SNV	-	-	-	-	-	-	-	-	-	COSM6357291	-	-	-	-	-	-	COSMIC,
chr16	52287864	52287864	A	C	intergenic	LOC102467079,TOX3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21069750	-	BRCA-UK|1|141|0.00709,BRCA-EU|1|569|0.00176	-	-	-,-	-,Tumour subtype, in BRCA1 mutation carriers, association with.|Breast cancer, association with	COSMIC,ICGC,
chr8	136411700	136411700	C	A	intergenic	LOC286094,KHDRBS3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17326198	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr14	94687613	94687613	C	T	intronic	PPP4R4	unknown	SNV	-	-	-	-	rs562739912	-	0.000199681	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr8	57023411	57023411	C	T	intergenic	RPS20,MOS	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,reproductive system phenotype	-,-	ICGC,
chr4	144888879	144888879	C	T	intergenic	GYPE,GYPB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	Autism spectrum disorder, association with,Blood group variation|Ss blood group variation	ICGC,
chr7	89478946	89478946	G	A	intergenic	ZNF804B,STEAP2-AS1	unknown	SNV	-	-	-	3.239e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	156310322	156310322	G	T	intronic	TSACC	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6003804	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr16	49064196	49064196	C	T	intergenic	N4BP1,CBLN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	no phenotypic analysis,behavior/neurological phenotype	-,-	ICGC,
chrX	127162468	127162468	G	A	intergenic	PRR32,ACTRT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr8	31932970	31932970	A	T	ncRNA_intronic	NRG1-IT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr4	119203322	119203322	C	A	exonic	PRSS12	nonsynonymous	SNV	0.315	0.695	-	-	-	-	-	-	-	COSM6757142	-	-	-	-	behavior/neurological phenotype	Mental retardation, non-syndromic, autosomal recessive	COSMIC,
chrX	91918844	91918844	G	A	intergenic	PCDH11X,NAP1L3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15858353	-	PACA-CA|1|268|0.00373	-	-	-,-	Absent speech, intellectual disability & behavioural problems|Attention deficit hyperactivity disorder & obsessive compulsive disorder|Developmental dyslexia |Language delay, nonsyndromic ,-	COSMIC,ICGC,
chr2	11273691	11273691	G	A	exonic	C2orf50	synonymous	SNV	-	-	-	-	-	-	-	-	-	-	LUAD|1|543|0.00184	-	-	-	-	-	TCGA,
chr3	188758987	188758987	A	T	intergenic	TPRG1-AS1,TPRG1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19543962	-	-	-	-	-,-	-,-	COSMIC,
chr11	112952862	112952862	T	C	intronic	NCAM1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8533375	-	MALY-DE|1|241|0.00415	-	-	mortality/aging	Neural tube defects, risk, association with	COSMIC,ICGC,
chr4	137206804	137206804	G	T	intergenic	LINC00613,PCDH18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,Intellectual disability  	ICGC,
chr1	181240029	181240029	C	T	intergenic	GM140,CACNA1E	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,behavior/neurological phenotype	-,Autism|Diabetes, type 2, association with	ICGC,
chr3	38674551	38674551	A	G	exonic	SCN5A	nonsynonymous	SNV	0.086	0.799	-	-	-	-	-	-	-	-	ESCA|1|185|0.00541	-	-	-	mortality/aging	Rapid ventricular tachycardia & intraventricular conduction delay|QTc interval, association with|QRS interval, association with|Phenotype modifier, association with|Nodal rhythm|Negative shift activation|Multifocal ectopic Purkinje-related premature contractions.|LQT3, conduction disorder, dilated cardiomyopathy|Longer QT interval, association with |Long QT syndrome.|Long QT syndrome, malignant perinatal variant|Long QT syndrome, drug-associated|Long QT syndrome and idiopathic ventricular fibrillation|Long QT syndrome and dilated cardiomyopathy|Long QT syndrome and Brugada syndrome|Long QT syndrome 3.|Romano-Ward syndrome|Sick sinus syndrome   |Sick sinus syndrome, autosomal recessive |Ventricular fibrillation, idiopathic|Ventricular fibrillation in coronary artery disease|Ventricular fibrillation during acute myocardial infarction|Ventricular arrhythmia, association with|SUDEP / epilepsy|Sudden unexplained nocturnal death syndrome, association with|Sudden unexplained nocturnal death syndrome|Sudden unexplained death  |Sudden infant death syndrome, association with|Sudden infant death syndrome  |Sudden cardiac death|Sudden adult death syndrome|Slow inactivation and negative shft inactivation|Sick sinus syndrome/Brugada syndrome|Sick sinus syndrome, conduction disease and Brugada syndrome|Ventricular tachycardia  |Arrhythmia, lidocaine-induced|Cardiac conduction disease|Cardiac arrhythmia, increased risk, association|Brugada-like ST elevation.|Brugada-like ST elevation|Brugada syndrome.|Brugada syndrome, lidocaine-induced|Brugada syndrome, asymptomatic|Brugada syndrome and epilepsy|Brugada syndrome|Brugada and short QT syndrome|Atrioventricular conduction block|Atrioventricular block, idiopathic|Atrial standstill|Atrial fibrillation|Arrhythmogenic right ventricular dysplasia  |Cardiac conduction disease and long QT syndrome|Cardiac sinus node dysfunction|Cardiac sinus node dysfunction.|Long QT syndrome 3, with concealed Brugada syndrome..|Long QT syndrome 2|Long QT syndrome & atrial fibrillation|Long QT syndrome|Lone atrial fibrillation, early-onset|Lone atrial fibrillation, association with|Lenegre-Lev disease|Increase in QT dispersion, association with|Idiopathic ventricular arrhythmia.|Cardiac sodium channelopathies|Cardiomyopathy, dilated|Dilated cardiomyopathy|Early repolarization syndrome|Electrocardiographic Traits, association with|Fever-induced arrhythmia|Heart block type 1	TCGA,
chr11	42183753	42183753	C	T	intergenic	LOC102723644,LOC100507205	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chrX	107719440	107719440	T	G	intronic	COL4A5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23289177	-	MALY-DE|1|241|0.00415	-	-	mortality/aging	Microhaematuria and thin basement membrane nephropathy.|Glomerulopathy, X-linked|Deafness  |Collagen IV nephropathy|Benign haematuria|Alport syndrome, X-linked|Alport syndrome, oesophageal leiomyomatosis|Alport syndrome, diffuse leiomyomatosis|Alport syndrome	COSMIC,ICGC,
chr2	227130324	227130324	T	C	intergenic	LOC646736,MIR5702	unknown	SNV	-	-	-	0.1389	rs12986845	-	0.196885	-	0.094	-	-	LAML-KR|1|205|0.00488	-	-	-,-	-,-	ICGC,
chr2	17111066	17111066	G	A	intergenic	FAM49A,RAD51AP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr7	99075885	99075885	A	T	intronic	ZNF789	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6900933	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr18	5387821	5387821	T	G	intergenic	ZBTB14,EPB41L3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,Potential protein deficiency	ICGC,
chr3	194322479	194322479	G	A	intronic	TMEM44	unknown	SNV	-	-	-	0.0005	rs529572031	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr6	108772934	108772934	G	A	intronic	LACE1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr1	218410941	218410941	G	A	intergenic	LOC101929631,RRP15	unknown	SNV	-	-	-	6.461e-05	rs553732667	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	209953899	209953899	T	G	exonic	TRAF3IP3	nonsynonymous	SNV	0.001	0.835	-	-	-	-	-	-	-	-	LIHC|1|373|0.00268	-	-	-	hematopoietic system phenotype	-	TCGA,
chr5	45715495	45715495	C	G	intergenic	HCN1,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	integument phenotype,-	Idiopathic epilepsy, generalised ,-	ICGC,
chr7	5285356	5285356	-	TTTT	intergenic	WIPI2,SLC29A4	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,Autism spectrum disorder 	ICGC,
chr2	220338283	220338283	T	C	exonic	SPEG	nonsynonymous	SNV	0.06	0.994	-	-	-	-	-	-	-	-	-	GACA-JP|1|585|0.00171	-	-	mortality/aging	Potential protein deficiency|Schizophrenia	ICGC,
chr4	23392542	23392542	A	T	ncRNA_intronic	MIR548AJ2	unknown	SNV	-	-	-	-	rs748323797	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-	-	ICGC,
chr6	96669751	96669751	A	C	intergenic	FUT9,UFL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	normal phenotype,mortality/aging	-,Schizophrenia	ICGC,
chr11	131184776	131184776	C	T	intergenic	SNX19,NTM	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN10081002	-	RECA-EU|1|422|0.00237	-	-	-,-	Autism spectrum disorder|Coronary heart disease, association with,Aortic aneurysm, thoracic & intracranial|Potential protein deficiency	COSMIC,ICGC,
chr5	43055518	43055518	G	A	ncRNA_intronic	LOC648987	unknown	SNV	-	-	-	3.228e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr3	100532457	100532457	C	T	intronic	ABI3BP	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	Autism|Potential protein deficiency	ICGC,
chr19	48763222	48763222	T	G	intergenic	LOC100505812,ZNF114	unknown	SNV	-	-	-	0.1364	rs4003429	-	0.186302	-	0.246	-	-	LAML-KR|1|205|0.00488	-	-	-,-	-,-	ICGC,
chr11	104396408	104396408	A	G	intergenic	PDGFD,LOC102723895	unknown	SNV	-	-	-	0.1333	rs11226410	-	0.133586	-	0.101	-	-	ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488	-	-	-,-	Intracerebral hemorrhage, association with,-	ICGC,
chr19	55932242	55932242	G	A	intergenic	UBE2S,SHISA7	unknown	SNV	-	-	-	0.0001	rs185316379	-	-	-	-	COSN20995826	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr8	5264162	5264162	C	T	intergenic	CSMD1,LOC100287015	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|2|100|0.02000,MELA-AU|1|183|0.00546	-	-	-,-	Schizophrenia, association with |Hyperinsulinism|Autism|Attention deficit hyperactivity disorder ,-	ICGC,
chr14	40698857	40698857	G	A	intergenic	FBXO33,LOC644919	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr7	18963002	18963002	C	G	intronic	HDAC9	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7973209	-	PACA-AU|1|391|0.00256	-	-	mortality/aging	Peters' anomaly |Immunodeficiency, common variable, association with  	COSMIC,ICGC,
chr2	27473835	27473835	-	C	intergenic	CAD,SLC30A3	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN25593204	-	-	-	-	-,other phenotype	-,Alzheimer disease, early-onset 	COSMIC,
chr14	72328465	72328501	TATATATATATATATATATATATATATATATATATAC	-	intergenic	SIPA1L1,RGS6	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,cardiovascular system phenotype	-,Increased protein expression	ICGC,
chr3	144067857	144067857	A	T	intergenic	C3orf58,PLOD2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,Bruck syndrome	ICGC,
chr2	64743862	64743862	G	C	intergenic	LGALSL,AFTPH	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	ICGC,
chr2	204719539	204719539	C	T	intergenic	CD28,CTLA4	unknown	SNV	-	-	-	-	rs142652812	-	0.000199681	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype,integument phenotype	-,Oral carcinoma, association with.|Nasopharyngeal carcinoma susceptibility, association with|Myasthenia gravis, association with|Myasthenia gravis|Multiple sclerosis, susceptibility to, association with|Multiple sclerosis, association with|Multiple cancers, association with|Kidney transplant rejection, association with|Inflammatory bowel disease, reduced risk, association with|Osteosarcoma, association with|Osteosarcoma, increased risk|Ulcerative colitis, association with  |Systemic lupus erythematosus, association with|Squamous cell carcinoma, association with|Skin cancer, decreased risk|Serum IgE levels, association with|Rheumatoid arthritis susceptibility, association with|Reduced serum soluble CTLA-4 levels, association with|Pretibial myxedema, association with|Pancreatic cancer, association with.|Increased serum IgE levels, association with|Immunodeficiency, common variable, association with.|IDDM, association with|Cancer, association with|B-cell chronic lymphocytic leukaemia, association with|Autoimmune addison's disease, association with|Asthma, association with|Ankylosing spondylitis, association with|Alopecia areata, association with|Aggressive periodontitis, in chronic periodontitis, association with.|Acute rejection after renal transplantation, association with.|Acute graft versus host disease, association with|Cervical cancer, association with|Cervical squamous cell carcinoma, association with |Hepatocellular & cervical cancer, increased risk, association with|Hashimoto thyroiditis in rheumatoid arthritis, association with|Graves disease, susceptibility to, association|Graves disease, association with|Ewing's sarcoma, association with.|Dilated cardiomyopathy, association with|Diabetes, type 1, association with|Chronic periodontitis, association with.|Chronic obstructive pulmonary disease, association with	ICGC,
chr1	118484339	118484339	C	T	intronic	WDR3	unknown	SNV	-	-	0	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	-	ICGC,
chr19	53669240	53669240	T	G	exonic	ZNF665	nonsynonymous	SNV	0.026	0.274	-	-	-	-	-	-	-	COSM4081002	STAD|1|395|0.00253,STES|1|395|0.00253	STAD-US|1|289|0.00346	-	-	-	-	COSMIC,COSMIC,TCGA,ICGC,
chr6	77354118	77354118	G	T	intergenic	IMPG1,HTR1B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,skeleton phenotype	Macular dystrophy, vitelliform,Suicidal ideation, in major depression, association with|Receptor variant|Alcohol dependence, association with|Alcohol and drug abuse, association with|Aggressive behaviour, association with	ICGC,
chr4	134702841	134702841	G	A	intergenic	PCDH10,PABPC4L	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Schizophrenia|Potential protein deficiency,Autism spectrum disorder  	ICGC,
chr1	4514413	4514413	C	T	intergenic	LOC284661,AJAP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr2	140960402	140960402	T	G	intergenic	YY1P2,LRP1B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,Schizophrenia   	ICGC,
chr1	230653399	230653399	A	T	intergenic	PGBD5,COG2	unknown	SNV	-	-	-	0.1550	rs853008	-	0.191693	-	0.130	-	-	LAML-KR|1|205|0.00488	-	-	-,mortality/aging	-,-	ICGC,
chr3	155041340	155041340	G	T	intergenic	LOC100507537,PLCH1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr21	29395195	29395195	G	A	ncRNA_exonic	LINC00314	unknown	SNV	-	-	-	0.1564	rs2831368	-	0.186502	-	0.181	-	-	ESAD-UK|1|301|0.00332,LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr1	189907568	189907568	A	C	intergenic	NONE,BRINP3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr10	57994739	57994739	C	T	intergenic	MTRNR2L5,ZWINT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	61111926	61111926	A	T	intronic	REL	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7079017	-	PACA-AU|1|391|0.00256	-	-	integument phenotype	-	COSMIC,ICGC,
chr1	188830784	188830784	C	T	intergenic	PLA2G4A,BRINP3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Asthma, association with|Cryptogenic multifocal ulcerating stenosing enteritis|Increased enzyme activity|Prostanoid biosynthesis deficiency,-	ICGC,
chr7	72497260	72497260	A	C	ncRNA_exonic	SPDYE8P	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5273903	-	-	-	-	-	-	COSMIC,
chr19	30536122	30536122	A	G	intergenic	URI1,ZNF536	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1765128	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,Schizophrenia	COSMIC,ICGC,
chr2	43452561	43452562	CG	-	exonic	ZFP36L2	frameshift	deletion	-	-	-	-	-	-	-	-	-	COSM1665868	-	-	-	-	integument phenotype	-	COSMIC,
chr5	78907335	78907335	A	G	upstream	PAPD4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	cellular phenotype	-	ICGC,
chr14	78598187	78598187	GG	AA	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr8	132186453	132186453	A	C	intergenic	ADCY8,EFR3A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17559047	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,-	Myocardial infarction  ,Autism|Potential protein deficiency	COSMIC,ICGC,
chr3	9614675	9614675	G	T	intergenic	LHFPL4,MTMR14	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,behavior/neurological phenotype	-,Decreased enzyme activity|Myopathy, centronuclear	ICGC,
chr7	94681788	94681788	C	T	intronic	PPP1R9A	unknown	SNV	-	-	-	0.0001	rs149335254	-	0.000199681	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	-	ICGC,
chr6	100175738	100175738	G	A	intergenic	PRDM13,MCHR2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	ICGC,
chr4	61652267	61652267	A	G	intergenic	NONE,LPHN3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25646816	-	MALY-DE|1|241|0.00415	-	-	-,behavior/neurological phenotype	-,-	COSMIC,ICGC,
chr4	46289245	46289245	G	A	intronic	GABRA2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype	-	ICGC,
chr7	142385914	142385914	G	T	intergenic	MTRNR2L6,PRSS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22011585	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,Solid pseudopapillary tumours|Pancreatitis, protection against |Pancreatitis, idiopathic |Pancreatitis, hereditary|Pancreatitis, chronic, association with |Pancreatitis, chronic |Pancreatitis, autoimmune|Pancreatitis, association with |Pancreatitis, acute recurrent |Pancreatic cancer |Breast cancer.	COSMIC,ICGC,
chr4	86005701	86005703	CTT	-	intergenic	WDFY3-AS2,ARHGAP24	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,Autism spectrum disorder|Focal segmental glomerulosclerosis 	ICGC,
chr6	67136237	67136237	T	G	intergenic	SLC25A51P1,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8799762	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr13	57203320	57203320	C	T	intergenic	MIR5007,PRR20A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr13	63163083	63163083	G	A	intergenic	LINC00358,LINC00448	unknown	SNV	-	-	-	6.474e-05	-	-	-	-	-	COSN23593315	-	ESAD-UK|2|301|0.00664	-	-	-,-	-,-	COSMIC,ICGC,
chr5	140475597	140475597	G	A	exonic	PCDHB2	nonsynonymous	SNV	0.09	0.0	-	-	-	-	-	-	-	COSM4523624	-	-	-	-	-	-	COSMIC,
chr18	24972122	24972122	G	A	intergenic	CHST9,CDH2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,Reduced expression|Potential protein deficiency|Alzheimer disease  	ICGC,
chr2	194067114	194067114	C	T	intergenic	PCGEM1,LOC101927406	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr7	34296959	34296959	C	T	intergenic	BMPER,NPSR1-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Diaphanospondylodysostosis,-	ICGC,
chr2	130308594	130308594	G	A	intergenic	LOC151121,LOC389033	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	ICGC,
chr5	99974857	99974857	A	T	intergenic	FAM174A,ST8SIA4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,-	ICGC,
chr4	130927998	130927998	G	T	intergenic	LOC101927282,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21448082	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr8	58573293	58573293	-	TG	intergenic	LINC00588,FAM110B	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	-,-	-,-	ICGC,
chr19	34322097	34322097	A	G	intergenic	KCTD15,LSM14A	unknown	SNV	-	-	-	0.6431	rs435942	-	0.574681	-	0.630	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr16	74979800	74979800	C	G	intronic	WDR59	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-	-	ICGC,
chr3	82727766	82727766	C	T	intergenic	GBE1,LINC00971	unknown	SNV	-	-	-	6.469e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Potential protein deficiency|Polyglucosan body disease, relapsing-remitting form|Polyglucosan body disease, adult|Lethal multiple pterygium syndrome|Glycogen storage disease 4, non-lethal neuromuscular|Glycogen storage disease 4, neonatal|Glycogen storage disease 4|Autism spectrum disorder|Adult polyglucosan body disease,-	ICGC,
chr1	164674080	164674080	G	T	intronic	PBX1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype	Schizophrenia	ICGC,
chr2	105550160	105550160	G	T	intergenic	LINC01159,LOC102724691	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr12	1963172	1963172	C	T	exonic	CACNA2D4	nonsynonymous	SNV	0.121	0.984	-	-	-	-	-	-	-	COSM4535443	-	-	-	-	vision/eye phenotype	Schizophrenia  |Cone dystrophy|Bipolar disorder, late-onset|Atrial fibrillation	COSMIC,COSMIC,
chr8	77075037	77075037	G	T	intergenic	HNF4G,LINC01111	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN18974292	-	CLLE-ES|1|510|0.00196	-	-	respiratory system phenotype,-	-,-	COSMIC,ICGC,
chr1	221069392	221069392	G	A	intergenic	HLX,C1orf140	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Asthma, association with|Diaphragmatic hernia, congenital ,-	ICGC,
chr9	24159756	24159756	-	ACACACACA	intergenic	ELAVL2,IZUMO3	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	Schizophrenia, association with  ,-	ICGC,
chr18	43331188	43331188	C	T	UTR3	SLC14A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	JK-null variant|Kidd blood group variant|Urea transport defect	ICGC,
chr5	38796260	38796260	G	A	ncRNA_intronic	OSMR-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr1	18493615	18493615	C	T	intronic	IGSF21	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr7	97096817	97096817	A	G	intergenic	ACN9,TAC1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9775078	-	RECA-EU|1|422|0.00237	-	-	-,integument phenotype	Long QT syndrome, drug-induced, increased risk,-	COSMIC,ICGC,
chr5	140414926	140414926	G	A	intergenic	PCDHA1,LOC101926905	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	normal phenotype,-	-,-	ICGC,
chr16	6957739	6957739	T	-	intronic	RBFOX1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312,PACA-AU|1|391|0.00256	-	-	mortality/aging	Muscular and feet abnormalities|Mental retardation|Epilepsy, rolandic  |Epilepsy|Developmental delay, facial dysmorphism  |Developmental delay and transposition of the great arteries|Developmental delay and diplegia|Developmental delay and craniosynostosis|Developmental delay  |Cardiac defects|Cardiac abnormalities, micrognathia and scoliosis|Autism spectrum disorder|Autism|Attention deficit hyperactivity disorder 	ICGC,
chr5	164663638	164663638	G	A	intergenic	LOC102546299,CTB-7E3.1	unknown	SNV	-	-	-	0.0001	rs554713458	-	0.000599042	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,-	-,-	ICGC,
chr6	104479400	104479400	C	T	intergenic	GRIK2,HACE1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,tumorigenesis	Mental retardation, non-syndromic, autosomal recessive,Wilms tumour 	ICGC,
chrY	18788954	18788954	G	A	intergenic	NLGN4Y,FAM41AY1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	Autism  ,-	ICGC,
chr14	28329697	28329697	T	C	intergenic	LINC00645,FOXG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,West syndrome |Rett-like syndrome|Rett syndrome|Refractory epilepsy & intellectual impairment|Microcephaly, mental retardation & thin genu of corpus callosum|Mental retardation, speech impairment & epilepsy|Mental retardation & speech impairment|Mental retardation & postnatal microcephaly|Mental retardation & callosum abnormalities|Mental retardation|Infantile spasms|Hemifacial microsomia|Generalized dystonia, athetosis and parkinsonism|Developmental delay, microcephaly & hypoplasia of the corpus callosum|Developmental delay, hypotonia, microcephaly & infantile spasms|Developmental delay & slow head growth|Agenesis of corpus callosum	ICGC,
chr19	24072731	24072731	G	A	intergenic	RPSAP58,ZNF726	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	ICGC,
chr1	243972240	243972240	G	A	intronic	AKT3	unknown	SNV	-	-	-	0.9036	rs7542018	-	0.885982	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Microcephaly, abnormalities of the corpus callosum & seizures |Microcephaly & abnormalities of the corpus callosum |Microcephaly |Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome|Megalencephaly-capillary malformation syndrome|Megalencephaly-capillary malformation / megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome|Macrocephaly, megalencephaly & developmental delay	ICGC,
chr3	102087723	102087723	G	A	intergenic	LOC152225,ZPLD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Cerebral cavernous malformations	ICGC,
chr11	56972231	56972231	C	A	intergenic	LRRC55,APLNR	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6610498	-	LICA-FR|1|252|0.00397	-	-	-,mortality/aging	-,Brain infarction, association with	COSMIC,ICGC,
chr3	62909045	62909045	A	G	intergenic	CADPS,LINC00698	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	mortality/aging,-	-,-	ICGC,
chr4	142722901	142722904	AAAA	-	intergenic	IL15,INPP4B	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	mortality/aging,hematopoietic system phenotype	-,-	ICGC,
chr4	157572343	157572343	C	T	intergenic	CTSO,PDGFC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,integument phenotype	-,Ovarian cancer, poor survival, association with|Cleft lip with or without cleft palate, association|Bilateral cleft lip & thumb polydactyly	ICGC,
chr5	6138565	6138565	G	A	intergenic	ICE1,FLJ33360	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr12	118940034	118940034	C	G	intergenic	SUDS3,SRRM4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22101338	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging,-	-,-	COSMIC,ICGC,
chr6	52382539	52382539	T	C	intronic	TRAM2	unknown	SNV	-	-	-	6.456e-05	rs866562587	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr8	6468923	6468923	G	A	intronic	MCPH1	unknown	SNV	-	-	-	0.8717	rs2959805	-	0.810503	-	0.841	-	-	LAML-KR|1|205|0.00488	-	-	mortality/aging	Primary microcephaly|Premature chromosome condensation syndrome|Microcephaly & mental retardation|Craniosynostosis-microcephaly with chromosomal breakage|Cranial volume, association with|Autism spectrum disorder	ICGC,
chr11	99541981	99541981	A	G	intronic	CNTN5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	behavior/neurological phenotype	-	ICGC,
chr5	155314316	155314316	T	A	intergenic	KIF4B,SGCD	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25074748	-	MALY-DE|1|241|0.00415	-	-	-,mortality/aging	-,Muscular dystrophy, limb girdle 2F|Muscular dystrophy, limb girdle 2 |Muscular dystrophy, limb girdle|Cardiomyopathy, dilated|Anorectal malformation	COSMIC,ICGC,
chr20	48604490	48604490	C	G	exonic	SNAI1	stopgain	SNV	-	-	-	-	-	-	-	-	-	COSM4818447	CESC|1|194|0.00515	CESC-US|1|194|0.00515	-	-	mortality/aging	Lung cancer and COPD, decreased risk	COSMIC,TCGA,ICGC,
chr11	59577343	59577343	C	G	exonic	MRPL16	nonsynonymous	SNV	0.227	0.179	4.069e-06	-	-	-	-	-	-	-	STAD|1|395|0.00253,STES|1|395|0.00253	-	-	-	-	-	TCGA,
chr2	148456174	148456174	C	A	intergenic	PABPC1P2,ACVR2A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PEME-CA|1|112|0.00893	-	-	-,mortality/aging	-,-	ICGC,
chr4	188603773	188603773	-	T	intergenic	LOC100506272,ZFP42	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332,MALY-DE|1|241|0.00415	-	-	-,mortality/aging	-,-	ICGC,
chr2	137873665	137873665	C	T	intronic	THSD7B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Autism spectrum disorder	ICGC,
chr5	116043250	116043250	G	A	intergenic	SEMA6A,LOC102467223	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6857718	-	LIRI-JP|1|258|0.00388	-	-	vision/eye phenotype,-	-,-	COSMIC,ICGC,
chr17	73929168	73929168	C	A	exonic	FBF1	synonymous	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr10	102548625	102548625	-	C	intronic	PAX2	unknown	insertion	-	-	-	0.0097	rs139379058	-	-	-	-	COSN20241066	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Optic nerve defect, calc keratopathy & posterior lens luxation|Optic-renal malformation|Papillorenal syndrome|Renal hypodysplasia|Renal hypoplasia|Renal-coloboma syndrome|Multicystic dysplastic kidney|Mulleran duct anomaly|Macular abnormalities|Alport-like glomerular basement membrane changes with renal-coloboma syndrome|Bilateral optic nerve anomalies|Focal segmental glomerulosclerosis|Graves' disease and renal coloboma syndrome.|Kidney and urinary tract abnormalities (CAKUT)|Kidney and urinary tract abnormalities (CAKUT).	COSMIC,ICGC,
chr8	84648962	84648962	T	G	intergenic	LINC01419,RALYL	unknown	SNV	-	-	-	-	rs762388133	-	-	-	-	COSN15244869	-	ESAD-UK|2|301|0.00664	-	-	-,-	-,-	COSMIC,ICGC,
chr10	104416902	104416902	G	A	exonic	TRIM8	nonsynonymous	SNV	0.236	0.001	4.068e-06	-	rs767136521	8.284e-06	-	-	-	COSM4736245	-	-	-	-	-	-	COSMIC,
chr10	2016332	2016332	G	T	intergenic	ADARB2,LINC00700	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr1	15695985	15695985	C	T	exonic	FHAD1	nonsynonymous	SNV	0.355	0.919	-	-	-	-	-	-	-	COSM4488686	-	-	-	-	-	-	COSMIC,COSMIC,
chr11	40525181	40525181	C	T	intronic	LRRC4C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr1	73141122	73141122	C	T	intergenic	NEGR1,LINC01360	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	behavior/neurological phenotype,-	Obesity, association with|Dyslexia |Body mass index, association with|Attention deficit hyperactivity disorder,-	ICGC,
chr5	144390283	144390283	A	C	intergenic	KCTD16,PRELID2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|2|301|0.00664	-	-	-,-	-,-	ICGC,
chr4	165815301	165815301	C	A	intronic	APELA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-	-	ICGC,
chr2	37406692	37406692	T	G	exonic	SULT6B1	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM50986	-	-	-	-	-	-	COSMIC,
chr6	85382967	85382967	-	AT	intergenic	CEP162,TBX18	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,integument phenotype	-,Autism	ICGC,
chr1	37469346	37469346	G	A	intronic	GRIK3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	nervous system phenotype	Developmental delay  |Schizophrenia|Schizophrenia, association with	ICGC,
chr17	69233794	69233794	T	C	intergenic	CASC17,LOC102723505	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr7	47816271	47816271	A	C	intronic	PKD1L1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Subarachnoid haemorrhage, association with	ICGC,
chr13	105993070	105993070	C	T	intergenic	MIR548AS,DAOA-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr10	79347066	79347066	A	G	intronic	KCNMA1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging	Hypertension, association with |Generalized epilepsy and paroxysmal dyskinesia|Autism	ICGC,
chr1	102487577	102487577	G	A	intergenic	OLFM3,COL11A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,mortality/aging	-,Stickler syndrome, type 2|Stickler syndrome|Robin sequence |Osteoarthritis, early-onset|Marshall syndrome|Marshall / Stickler syndrome|Lumbar disc herniation, association with|Fibrochondrogenesis|Deafness  	ICGC,
chr19	38298331	38298331	G	C	intergenic	ZNF573,LOC644554	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7126202	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	COSMIC,ICGC,
chr1	159952648	159952648	G	A	intergenic	LINC01133,PIGM	unknown	SNV	-	-	-	0.0010	rs141079176	-	0.000798722	-	-	-	-	LAML-KR|1|205|0.00488	-	-	-,-	-,Glycosylphosphatidylinositol deficiency	ICGC,
chr1	232634875	232634875	G	A	intronic	SIPA1L2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr17	29653486	29653486	T	C	intronic	NF1	unknown	SNV	-	-	-	-	rs562696317	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	integument phenotype	Neurofibromatosis-Noonan syndrome.|Neurofibromatosis-Noonan syndrome|Neurofibromatosis without cutaneous neurofibromas|Neurofibromatosis 1.|Neurofibromatosis 1 with ocular anomalies|Neurofibromatosis, spinal|Noonan syndrome|Noonan syndrome & neurofibromatosis 1|Phaeochromocytoma|Phaeochromocytoma.|Pilocytic astrocytoma|Plexiform neurofibromas |Neurofibromatosis 1 optic pathway gliomas|Neurofibromatosis 1|Neurofibromatosis  |Astrocytoma, pilocytic|Autism|Bilateral polymicrogyria in NF1|Cafe-au-lait patches|Chronic myelogenous leukaemia, juvenile |Congenital heart disease |Developmental delay, autism, epilepsy & dysmorphic features|Myelomonocytic leukaemia, juvenile|Multiple spinal ganglioneuromas|Mental retardation, association with|Glomus tumours in neurofibromatosis 1|Glioma	ICGC,
chr5	24070055	24070055	C	T	intergenic	PRDM9,CDH10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	reproductive system phenotype,-	Altered meiotic recombination hotspot usage|Azoospermia by meiotic arrest, association with |Azoospermia, non-obstructive ,-	ICGC,
chr6	58606170	58606170	T	C	intergenic	GUSBP4,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr4	127288428	127288428	C	A	intergenic	MIR2054,INTU	unknown	SNV	-	-	-	3.23e-05	-	-	-	-	-	COSN19412374	-	-	-	-	-,mortality/aging	-,Anorectal malformation	COSMIC,
chr22	51159167	51159167	-	GGCCGTGGGCAGCCCC	exonic	SHANK3	frameshift	insertion	-	-	-	-	-	-	-	-	-	-	-	-	Intellectual_disability	-	integument phenotype	Schizophrenia |Phelan-McDermid syndrome|Intellectual disability, nonsyndromic|Intellectual disability  |Bipolar disorder and epilepsy|Bipolar affective disorder & early dementia|Autism spectrum disorder|Attention deficit hyperactivity disorder, combined|22q13 deletion syndrome	ClinVar,
chr2	172950369	172950369	G	T	UTR5	DLX1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	mortality/aging	-	ICGC,
chr1	204896970	204896970	C	T	intronic	NFASC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Schizophrenia	ICGC,
chr4	12157272	12157272	G	C	intergenic	HS3ST1,RAB28	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22994404	-	PAEN-IT|1|37|0.02703	-	-	mortality/aging,-	-,Breast cancer risk, association with |Cone-rod dystrophy, autosomal recessive	COSMIC,ICGC,
chrX	127922695	127922695	G	A	intergenic	ACTRT1,SMARCA1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,behavior/neurological phenotype	-,-	ICGC,
chrX	5411281	5411281	-	GTCT	intergenic	LOC101928201,NLGN4X	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,Potential protein deficiency|Mental retardation|Kallmann syndrome and ichthyosis|Intellectual disability, short stature & hydrocephaly|Intellectual disability, Kallmann syndrome & ichthyosis|Intellectual disability, behavioural difficulties, ichthyosis & hypogonadotrophic hypogonadism|Intellectual disability, autism spectrum disorder & short stature|Developmental delay, hypospadias & ichthyosis|Developmental delay, autism spectrum disorder, micropenis & ichthyosis|Developmental delay  |Autism, association with|Autism and mental retardation|Autism 	ICGC,
chr3	84409821	84409821	C	T	intergenic	NONE,LINC00971	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr8	92485764	92485764	C	A	intergenic	SLC26A7,RUNX1T1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20874324	-	BRCA-EU|1|569|0.00176	-	-	digestive/alimentary phenotype,integument phenotype	-,Intellectual disability  	COSMIC,ICGC,
chr12	9627660	9627660	C	T	intergenic	DDX12P,KLRB1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	ICGC,
chr13	72126702	72126702	A	T	intronic	DACH1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5344364	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging	Renal hypodysplasia	COSMIC,ICGC,
chr6	32701742	32701742	G	A	intergenic	HLA-DQB1,HLA-DQA2	unknown	SNV	-	-	-	3.232e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Systemic sclerosis, association with|Altered expression,-	ICGC,
chr7	93286304	93286304	T	G	intergenic	CALCR,MIR4652	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	Lower lumbar bone mineral density, association,-	ICGC,
chr7	125953541	125953541	A	C	intergenic	LOC101928283,GRM8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312,ESAD-UK|1|301|0.00332,PACA-AU|1|391|0.00256	-	-	-,behavior/neurological phenotype	-,Attention deficit hyperactivity disorder|Autism spectrum disorder  	ICGC,
chr2	137052228	137052228	T	C	intergenic	CXCR4,THSD7B	unknown	SNV	-	-	-	0.0002	rs192029357	-	0.000199681	-	-	-	-	MALY-DE|1|241|0.00415	-	-	mortality/aging,-	WHIM syndrome,Autism spectrum disorder	ICGC,
chrX	127167127	127167127	C	T	intergenic	PRR32,ACTRT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr13	85547521	85547521	G	A	intergenic	LINC00333,LINC00351	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	ICGC,
chr20	57734492	57734492	G	A	intergenic	SLMO2-ATP5E,ZNF831	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1878031	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr13	81213289	81213289	T	G	intergenic	SPRY2,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	Cleft lip ,-	ICGC,
chr7	155995448	155995448	G	A	intergenic	LOC389602,LOC285889	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr16	10165599	10165599	T	C	intronic	GRIN2A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype	Intellectual disability  |Landau-Kleffner syndrome|Landau-Kleffner syndrome, atypical rolandic epilepsy, dysphasia, CSWS syndrome|Landau-Kleffner syndrome, verbal dyspraxia|Landau-Kleffner syndrome/benign epilepsy with centrotemporal spikes/atypical benign partial epilepsy|Mental retardation with abnormal EEG|Partial epilepsy, atypical benign|Rolandic epilepsy |Schizophrenia|Schizophrenia, chronic outcome, association with|Seizure disorders of rolandic region & intellectual disability|Increased hippocampal and amygdala volumes, association with|Epileptic encephalopathy, verbal dyspraxia|Epileptic encephalopathy, benign childhood epilepsy|Alcohol dependence, association with|Atypical rolandic epilepsy, absence epilepsy|Atypical rolandic epilepsy, verbal dyspraxia|Benign epilepsy with centrotemporal spikes|Epilepsy with cognitive impairment|Epilepsy-aphasia syndrome|Epilepsy, childhood-onset|Epileptic encephalopathy|Epileptic encephalopathy, abnormal EEG & developmental delay|Epileptic encephalopathy, atypical rolandic epilepsy, dysphasia|Epileptic encephalopathy, atypical rolandic epilepsy, verbal dyspraxia	ICGC,
chr12	73489073	73489073	C	T	intergenic	TRHDE,LOC101928137	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	no phenotypic analysis,-	-,-	ICGC,
chr5	45824333	45824333	C	A	intergenic	HCN1,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	integument phenotype,-	Idiopathic epilepsy, generalised ,-	ICGC,
chr8	78791746	78791746	C	A	intergenic	PEX2,PKIA	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9269671	-	RECA-EU|1|422|0.00237	-	-	mortality/aging,normal phenotype	Zellweger syndrome|Refsum disease, infantile|Peroxisome biogenesis disorder|Cerebellar ataxia, autosomal recessive,-	COSMIC,ICGC,
chr4	6414893	6414893	C	A	intronic	PPP2R2C	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5575735	-	LIRI-JP|1|258|0.00388	-	-	-	Intellectual disability	COSMIC,ICGC,
chr8	12416972	12416972	T	C	ncRNA_intronic	LOC100506990,LOC729732	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr13	31433375	31433375	G	T	intergenic	LINC00398,LINC00545	unknown	SNV	-	-	-	0.0002	rs146020504	-	0.00219649	-	0.007	-	-	LAML-KR|1|205|0.00488	-	-	-,-	-,-	ICGC,
chr11	103399200	103399200	C	T	intergenic	DYNC2H1,MIR4693	unknown	SNV	-	-	-	0.2556	rs7129400	-	0.258586	-	0.268	-	-	LAML-KR|1|205|0.00488	-	-	mortality/aging,-	Short rib-polydactyly syndrome, type 3|Short rib-polydactyly syndrome, Majewski type|Short rib-polydactyly syndrome|Asphyxiating thoracic dystrophy,-	ICGC,
chrX	86504937	86504937	A	G	intergenic	DACH2,KLHL4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19438867	-	-	-	-	normal phenotype,-	-,-	COSMIC,
chr1	119214694	119214694	C	T	intergenic	SPAG17,TBX15	unknown	SNV	-	-	-	0.0002	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,integument phenotype	Autism,Cousin syndrome	ICGC,
chr22	18528975	18528975	A	G	intergenic	FLJ41941,PEX26	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,Peroxisome biogenesis disorder|Refsum disease, infantile|Zellweger syndrome	ICGC,
chr1	158439104	158439104	A	T	intergenic	OR10K1,OR10R2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	ICGC,
chr18	65363522	65363522	A	G	ncRNA_intronic	LOC643542	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20755303	-	BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr5	145457366	145457366	G	A	intergenic	SH3RF2,PLAC8L1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,-	-,-	ICGC,
chr7	22728583	22728583	C	T	intergenic	LOC401312,IL6	unknown	SNV	-	-	-	6.495e-05	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,integument phenotype	-,Febrile seizures, association with.|Graft-versus-host disease, association with|Impaired cognitive development, association with|Increased serum lipoprotein(a) concentrations, association|Irritable bowel syndrome, association with|Ischaemic stroke, in Han Chinese, association with|Juvenile arthritis, lower risk, association|Leprosy, association with|Longevity, association with|Lower bone mineral density, association with|Oral carcinoma, tobacco-related, protection against|Tuberculosis resistance, association with.|Systemic lupus erythematosus, association with|Sudden infant death syndrome, association with|Protection from late diabetic complications|Preterm birth, association with.|Postmenopausal osteoporosis, association with|Pemphigus, association with.|Paranoid schizophrenia, increased risk |Fat free mass in men, association with|Coronary heart disease, reduced risk, association with.|Alzheimer disease, reduced risk, association with.|Alzheimer disease, protection, association with|Alzheimer disease, increased risk when found with APOE e4|Alzheimer disease|Altered transcriptional activity|Altered gene expression|Acute coronary syndrome, protection against, association with|Acute coronary syndrome, association with.|Arterial stiffness, association with|Autoimmune thyroid diseases, association with|Bladder cancer, association with|Coeliac disease susceptibility in females, association with|Cervical cancer risk|Cerebral palsy, association with|Cerebral palsy, associated with|Cerebral palsy |Cardiovascular risk factors, association with|Cardiovascular disease risk, association with|Bone mineral density, association with	ICGC,
chr8	70871784	70871784	C	T	intergenic	SLCO5A1,PRDM14	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,reproductive system phenotype	-,-	ICGC,
chr4	72552267	72552267	C	A	intergenic	SLC4A4,GC	unknown	SNV	-	-	-	-	rs551612372	-	0.000399361	-	-	COSN9052216	-	OV-AU|1|93|0.01075	-	-	integument phenotype,skeleton phenotype	Reduced transport activity|Proximal renal tubular acidosis|Migraine ,Vitamin D-binding protein levels, association with|Vitamin D affinity, association with|Lower plasma 25(OH)D concentration, association with|Graves disease, susceptibility to, association|Circulating 25-hydroxyvitamin D levels, association with|Asthma, increased risk, association with |25-hydroxyvitamin D levels, association with|25-hydroxyvitamin D and 1,25-dihydroxyvitamin D levels, association	COSMIC,ICGC,
chr2	229850414	229850414	G	A	intergenic	SPHKAP,PID1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Anorectal malformation	ICGC,
chr11	133443101	133443101	C	A	intergenic	OPCML,LOC646522	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	no phenotypic analysis,-	Autism spectrum disorder  ,-	ICGC,
chr4	162036870	162036870	C	T	intergenic	RAPGEF2,FSTL5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype,-	-,Schizophrenia  |Rolandic epilepsy 	ICGC,
chr1	103583884	103583884	T	A	intergenic	COL11A1,LOC101928436	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1396809	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging,-	Stickler syndrome, type 2|Stickler syndrome|Robin sequence |Osteoarthritis, early-onset|Marshall syndrome|Marshall / Stickler syndrome|Lumbar disc herniation, association with|Fibrochondrogenesis|Deafness  ,-	COSMIC,ICGC,
chr2	212879665	212879665	C	T	intronic	ERBB4	unknown	SNV	-	-	-	-	rs201582228	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	integument phenotype	Schizophrenia |Oligohydramnios|Intellectual disability, hyperactivity & speech developmental delay|Increased promoter activity|Hepatocellular carcinoma, increased risk, association with|Epileptic encephalopathy, early infantile 3|Breast and colorectal cancer, association with|Bipolar disorder, association with |Bipolar disorder |Autism spectrum disorder  |Amyotrophic lateral sclerosis type 19	ICGC,
chr12	51912397	51912397	G	A	intergenic	SLC4A8,SCN8A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15933809	-	PACA-CA|1|268|0.00373	-	-	homeostasis/metabolism phenotype,mortality/aging	-,Intellectual disability, nonsyndromic|Hyperinsulinism|Epileptic encephalopathy, multiple congenital anomalies and movement disorders|Epileptic encephalopathy, infantile|Epileptic encephalopathy |Ataxia	COSMIC,ICGC,
chr7	57723816	57723816	A	G	intergenic	ZNF716,NONE	unknown	SNV	-	-	-	-	rs202231903	-	-	-	-	COSN20495575	-	COCA-CN|1|321|0.00312	-	-	-,-	-,-	COSMIC,ICGC,
chr2	146261760	146261760	T	A	intergenic	TEX41,PABPC1P2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26768373	-	PRAD-FR|1|25|0.04000	-	-	-,-	-,-	COSMIC,ICGC,
chr8	5181836	5181836	C	T	intergenic	CSMD1,LOC100287015	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-,-	Schizophrenia, association with |Hyperinsulinism|Autism|Attention deficit hyperactivity disorder ,-	ICGC,
chr1	244546601	244546601	G	A	intronic	C1orf100	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	Potential protein deficiency	ICGC,
chr2	197189517	197189517	G	A	intronic	HECW2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr6	82561153	82561153	C	T	intergenic	FAM46A,IBTK	unknown	SNV	-	-	-	0.0034	rs117552580	-	0.00998403	-	0.007	-	-	LAML-KR|1|205|0.00488	-	-	-,hematopoietic system phenotype	Tuberculosis, susceptibility to ,-	ICGC,
chr1	79866677	79866677	A	G	intergenic	ELTD1,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	normal phenotype,-	-,-	ICGC,
chr9	76513878	76513880	AAC	-	ncRNA_intronic	MIR6130	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	OV-AU|1|93|0.01075	-	-	-	-	ICGC,
chr5	149771711	149771711	CC	TA	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	COADREAD|1|489|0.00204,READ|1|122|0.00820	-	-	-	-	-	TCGA,
chr4	24254104	24254104	T	G	intergenic	PPARGC1A,MIR573	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16363948	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging,-	Neovascularization in age-related macular degeneration, reduced risk|Left ventricular diastolic dysfunction in men, association with|Insulin resistance, association with|Increased risk for HCM|Hyperinsulinemia, HOMA-IR indices and abdominal obesity, association with|Huntington disease, age-at-onset in males, association with|Endurance-related phenotypes, association with|Diabetic nephropathy, association with|Diabetes, type 2, lower risk, association with|Diabetes, type 2, association with|Breast cancer|Body mass index, association with|Blood pressure, association with,-	COSMIC,ICGC,
chr1	40538735	40538735	C	G	UTR3	PPT1	unknown	SNV	-	-	-	0.0003	-	-	-	-	-	-	-	-	Neuronal_Ceroid-Lipofuscinosis,_Recessive	-	mortality/aging	Neuronal ceroid lipofuscinosis, late infantile|Neuronal ceroid lipofuscinosis, juvenile|Neuronal ceroid lipofuscinosis, infantile.|Neuronal ceroid lipofuscinosis, infantile|Neuronal ceroid lipofuscinosis, adult	ClinVar,
chr18	9585713	9585713	A	T	intronic	PPP4R1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr2	76860778	76860778	C	T	intergenic	GCFC2,LRRTM4	unknown	SNV	-	-	-	3.235e-05	rs547015427	-	0.000199681	-	-	-	-	PEME-CA|1|112|0.00893	-	-	-,-	-,-	ICGC,
chr14	44858551	44858551	A	G	intergenic	NONE,FSCB	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16598052	-	PACA-CA|1|268|0.00373	-	-	-,-	-,Tourette syndrome 	COSMIC,ICGC,
chr3	129762632	129762632	G	A	intergenic	TRH,ALG1L2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	endocrine/exocrine gland phenotype,-	Schizophrenia,Potential protein deficiency	ICGC,
chr2	152859564	152859564	C	T	intronic	CACNB4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging	Idiopathic epilepsy, generalised|Myoclonic epilepsy, juvenile|Schizophrenia  |Seizures, increased risk	ICGC,
chr1	194768244	194768244	T	A	intergenic	CDC73,KCNT2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7467793	-	MALY-DE|1|241|0.00415	-	-	integument phenotype,-	Potential protein deficiency|Parathyroid carcinoma/adenoma|Parathyroid carcinoma.|Parathyroid carcinoma|Parathyroid cancer|Parathyroid adenoma.|Parathyroid adenoma |Hyperparathyroidism, primary.|Hyperparathyroidism, primary|Hyperparathyroidism, isolated|Hyperparathyroidism-jaw tumour syndrome.|Hyperparathyroidism-jaw tumour syndrome,-	COSMIC,ICGC,
chr14	29107103	29107103	G	A	intergenic	LINC00645,FOXG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,integument phenotype	-,West syndrome |Rett-like syndrome|Rett syndrome|Refractory epilepsy & intellectual impairment|Microcephaly, mental retardation & thin genu of corpus callosum|Mental retardation, speech impairment & epilepsy|Mental retardation & speech impairment|Mental retardation & postnatal microcephaly|Mental retardation & callosum abnormalities|Mental retardation|Infantile spasms|Hemifacial microsomia|Generalized dystonia, athetosis and parkinsonism|Developmental delay, microcephaly & hypoplasia of the corpus callosum|Developmental delay, hypotonia, microcephaly & infantile spasms|Developmental delay & slow head growth|Agenesis of corpus callosum	ICGC,
chr6	53872664	53872664	G	A	downstream	MLIP-IT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr4	174450186	174450186	C	G	exonic	HAND2	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM244859	-	-	-	-	mortality/aging	Congenital heart disease 	COSMIC,
chr5	104824952	104824952	C	G	intergenic	RAB9BP1,LOC102467213	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr12	39104156	39104156	G	C	intronic	CPNE8	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17686695	-	ESAD-UK|1|301|0.00332	-	-	-	-	COSMIC,ICGC,
chrX	145051163	145051163	A	G	intergenic	TMEM257,MIR892C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr1	11525644	11525644	C	T	intergenic	UBIAD1,PTCHD2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN18848807	-	-	-	-	-,-	Central discoid corneal dystrophy|Schnyder crystalline corneal dystrophy,-	COSMIC,
chr7	85562743	85562743	C	T	intergenic	SEMA3D,GRM3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,behavior/neurological phenotype	Total anomalous pulmonary venous connection|Tetralogy of Fallot|Hirschsprung disease   ,Schizophrenia, association with|Major depressive disorder, association with	ICGC,
chr18	37710331	37710331	-	ATAAATAC	intergenic	LOC101927900,KC6	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	ICGC,
chr3	124880454	124880454	C	T	intronic	SLC12A8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	normal phenotype	-	ICGC,
chr10	54113148	54113148	G	A	intergenic	DKK1,LOC101928687	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	High bone mass trait,-	ICGC,
chr18	45069468	45069468	G	T	intergenic	SKOR2,SMAD2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,integument phenotype	-,Congenital heart defects |Congenital heart disease 	ICGC,
chr6	91425714	91425714	A	T	intergenic	MAP3K7,MIR4643	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	-,-	ICGC,
chr19	49728186	49728186	C	T	intergenic	TRPM4,SLC6A16	unknown	SNV	-	-	-	0.5108	rs3843746	-	0.46226	-	0.507	-	-	LAML-KR|1|205|0.00488	-	-	hematopoietic system phenotype,-	Brugada syndrome    |Cardiac conduction disease, isolated|Heart block type 1,-	ICGC,
chr15	53521980	53521980	C	-	intergenic	ONECUT1,WDR72	unknown	deletion	-	-	-	0.0013	rs200330748	-	-	-	-	COSN19548498	-	PACA-CA|1|268|0.00373,PACA-AU|1|391|0.00256,PRAD-UK|1|140|0.00714,MELA-AU|1|183|0.00546	-	-	mortality/aging,-	-,Amelogenesis imperfecta|Hypomaturation amelogenesis imperfecta	COSMIC,COSMIC,ICGC,
chr11	31996863	31996863	C	T	intergenic	DKFZp686K1684,LOC100506675	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15803806	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr7	119255714	119255714	C	T	intergenic	ANKRD7,KCND2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Epilepsy, temporal lobe	ICGC,
chr5	114292260	114292260	G	A	intergenic	KCNN2,TRIM36	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	-,-	ICGC,
chr21	31859903	31859903	A	C	upstream	KRTAP19-2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	-	ICGC,
chr6	87080265	87080265	C	T	intergenic	SNHG5,HTR1E	unknown	SNV	-	-	-	6.466e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr18	38064420	38064420	A	T	intergenic	LOC101927900,KC6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	83236176	83236176	T	C	downstream	EDIL3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	immune system phenotype	Schizophrenia  	ICGC,
chrX	137395844	137395844	G	A	intergenic	ZIC3,LINC00889	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Situs abnormality|Heterotaxy|Congenital heart disease |Cardiac malformation,-	ICGC,
chr22	26375806	26375806	C	T	intronic	MYO18B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	mortality/aging	Colorectal cancer, increased risk, association with|Leukemia, risk, association with |Schizophrenia	ICGC,
chr2	137937371	137937371	C	G	intronic	THSD7B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	Autism spectrum disorder	ICGC,
chr16	64487098	64487098	A	C	intergenic	NONE,CDH11	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17753877	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	-,-	COSMIC,ICGC,
chr6	104719922	104719922	C	T	intergenic	NONE,HACE1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,tumorigenesis	-,Wilms tumour 	ICGC,
chr8	59564602	59564602	G	C	intronic	NSMAF	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype	-	ICGC,
chr1	195439853	195439853	A	T	intergenic	NONE,KCNT2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr10	72593034	72593034	A	G	intronic	SGPL1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27861731	-	UTCA-FR|1|20|0.05000	-	-	mortality/aging	-	COSMIC,COSMIC,ICGC,
chr13	85105628	85105628	A	-	ncRNA_intronic	LINC00333	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr4	91350311	91350311	A	G	intronic	CCSER1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr5	15609805	15609805	G	T	ncRNA_intronic	CTD-2350J17.1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr17	52147924	52147924	C	T	intergenic	KIF2B,TOM1L1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|2|183|0.01093	-	-	-,-	-,-	ICGC,
chr9	93354253	93354253	G	A	intergenic	LOC340515,DIRAS2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	103203210	103203210	T	G	intergenic	ZPLD1,MIR548A3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	Cerebral cavernous malformations,-	ICGC,
chr15	87705699	87705699	A	G	intergenic	AGBL1,LINC00052	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	Fuchs corneal dystrophy, late-onset ,-	ICGC,
chr8	9563770	9563770	G	A	intronic	TNKS	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Autism|Schizophrenia	ICGC,
chr8	115112946	115112946	G	A	intergenic	CSMD3,TRPS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN14508318	-	PACA-AU|1|391|0.00256	-	-	-,integument phenotype	Schizophrenia  |Colorectal cancer ,Tricho-rhino-phalangeal syndrome with supernumerary teeth|Tricho-rhino-phalangeal syndrome III|Tricho-rhino-phalangeal syndrome I|Tricho-rhino-phalangeal syndrome|Infantile scoliosis & developmental delay|Femoral neck width, association with|Ambras syndrome	COSMIC,ICGC,
chr8	88781246	88781246	C	A	intergenic	CNBD1,DCAF4L2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24785716	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	COSMIC,ICGC,
chr18	51693515	51693515	T	G	intronic	MBD2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	mortality/aging	-	ICGC,
chr13	90117916	90117916	C	A	intergenic	LINC00433,LINC00353	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr7	9543521	9543521	A	C	intergenic	NXPH1,PER4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	Breast cancer, increased risk  ,-	ICGC,
chr3	69168371	69168371	G	T	exonic	LMOD3	nonsynonymous	SNV	0.01	0.979	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr12	3160427	3160427	T	C	intergenic	TEAD4,TSPAN9	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20923259	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging,-	-,-	COSMIC,ICGC,
chr4	9060735	9060735	G	A	intergenic	LOC650293,USP17L10	unknown	SNV	-	-	-	0.0005	-	-	-	-	-	COSN16629546	-	PACA-CA|1|268|0.00373,PBCA-US|1|186|0.00538	-	-	-,-	-,-	COSMIC,ICGC,
chrX	134990952	134990952	C	T	intronic	SAGE1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Potential protein deficiency	ICGC,
chr4	162283403	162283403	T	C	intergenic	RAPGEF2,FSTL5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	integument phenotype,-	-,Schizophrenia  |Rolandic epilepsy 	ICGC,
chr20	9315241	9315241	C	T	intronic	PLCB4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|2|100|0.02000,MELA-AU|2|183|0.01093	-	-	mortality/aging	Auriculocondylar syndrome	ICGC,
chr2	64959012	64959012	C	A	intergenic	SERTAD2,LOC101927438	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9383499	-	OV-AU|1|93|0.01075	-	-	-,-	-,-	COSMIC,ICGC,
chr6	145697912	145697912	C	T	intergenic	UTRN,EPM2A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,mortality/aging	Arthrogryposis |Schizophrenia,Myoclonic epilepsy of Lafora|Epilepsy, progressive myoclonus	ICGC,
chr4	105185418	105185418	C	A	intergenic	TACR3,CXXC4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	behavior/neurological phenotype,-	Kallmann syndrome|Hypogonadotropic hypogonadism,-	ICGC,
chr8	137647158	137647158	G	A	intergenic	KHDRBS3,FAM135B	unknown	SNV	-	-	-	3.231e-05	-	-	-	-	-	COSN7666911	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	COSMIC,ICGC,
chr4	35592851	35592851	C	T	intergenic	NONE,ARAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	ICGC,
chr7	99027400	99027400	G	A	exonic	ATP5J2-PTCD1,PTCD1	synonymous	SNV	-	-	3.251e-05	3.233e-05	rs554313112	1.654e-05	-	-	-	-	COAD|1|367|0.00272,COADREAD|1|489|0.00204	-	-	-	-,-	-,Complex I deficiency	TCGA,
chr2	147115465	147115465	C	T	intergenic	TEX41,PABPC1P2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	109514270	109514270	C	A	intergenic	LINC01205,PVRL3-AS1	unknown	SNV	-	-	-	0.2582	rs7626305	-	0.203874	-	0.225	-	-	LAML-KR|1|205|0.00488	-	-	-,-	-,-	ICGC,
chr10	54068366	54068366	C	T	ncRNA_intronic	PRKG1-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr4	28594878	28594878	G	A	intergenic	STIM2,MIR4275	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	-,-	ICGC,
chr1	24019406	24019406	T	-	intronic	RPL11	unknown	deletion	-	-	-	-	-	-	-	-	0.029	-	-	LMS-FR|2|67|0.02985	-	-	-	Diamond-Blackfan anaemia	ICGC,
chr3	87614752	87614752	-	T	intergenic	POU1F1,HTR1F	unknown	insertion	-	-	-	3.239e-05	-	-	-	-	-	-	-	LIRI-JP|2|258|0.00775	-	-	mortality/aging,integument phenotype	Mental retardation, in women, association with|Pituitary hormone deficiencies, multiple|Pituitary hormone deficiency,-	ICGC,
chr10	127286612	127286612	T	A	intergenic	TEX36-AS1,TEX36	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr6	16266186	16266186	G	C	intronic	GMPR	unknown	SNV	-	-	-	0.1462	rs75764890	-	0.142971	-	0.087	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr7	83954557	83954557	A	C	intergenic	SEMA3A,LOC101927378	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	Unexplained cardiac arrest, association with|Short stature & multiple congenital anomalies|Kallmann syndrome|Hirschsprung disease   |Crypt frequency in the iris, association with,-	ICGC,
chr1	246803790	246803790	-	A	intronic	CNST	unknown	insertion	-	-	-	0.0001	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332,BRCA-UK|1|141|0.00709,BRCA-EU|1|569|0.00176	-	-	-	-	ICGC,
chr12	78327514	78327514	A	T	intronic	NAV3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-	-	ICGC,
chr4	20885263	20885263	A	C	intronic	KCNIP4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	Renal cell carcinoma 	ICGC,
chrX	25710044	25710044	C	T	intergenic	ARX,MAGEB18	unknown	SNV	-	-	-	4.618e-05	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype,-	Infantile spasms & intellectual disability|Intellectual disability & dystonia|Intellectual disability, X-linked|Lissencephaly, X-linked, with abnormal genitalia|Mental retardation|Mental retardation and epilepsy|Neurodegeneration   |Neurodegeneration with Ohtahara syndrome and mov disord|Ohtahara syndrome|Ohtahara syndrome with developmental delay|Partington syndrome|Infantile spasm syndrome, X-linked|Generalized dystonia without infantile spasms|ACC, epilepsy, abnormal genitalia|ACC, infantile spasms & abnormal genitalia|ACC, lissencephaly, seizures & genital hypoplasia|ACC, mental retardation, epilepsy & dyskinetic quadriparesis|Asymmetric polymicrogyria & periventricular nodular heterotopia|Autism spectrum disorder|Developmental delay and early hand preference.|Epilepsy, early-onset|Epilepsy, early-onset.|Epileptic encephalopathy, early infantile|Epileptic encephalopathy, early onset,-	ICGC,
chr19	15354055	15354055	G	A	exonic	BRD4	nonsynonymous	SNV	0.008	0.744	7.539e-06	-	rs765227557	0	-	-	-	COSM4074970	STAD|1|395|0.00253,STES|1|395|0.00253	STAD-US|1|289|0.00346	-	-	integument phenotype	-	COSMIC,TCGA,ICGC,
chr3	172999975	172999975	C	T	intergenic	SPATA16,NLGN1	unknown	SNV	-	-	-	0.0003	rs10936747	-	0.00119808	-	0.007	COSN6753851	-	LIRI-JP|1|258|0.00388	-	-	-,mortality/aging	Globozoospermia,Microcephaly, seizure disorder & intellectual disability |Autism spectrum disorder  |Autism|Anorectal malformation	COSMIC,ICGC,
chrY	4389308	4389308	C	T	intergenic	TGIF2LY,PCDH11Y	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr22	29101958	29101958	-	CTAAACTAAACTAAG	intronic	CHEK2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	mortality/aging	Neuroblastoma|Multiple cancers|Multi-organ cancers|Malignant melanoma, increased risk|Lung cancer, reduced risk, association with|Lung cancer|Li-Fraumeni syndrome, increased risk|Ovarian cancer |Ovarian carcinoma|Papillary thyroid carcinoma, association with|Papillary thyroid carcinoma, increased risk|Prostate cancer|Reduced activity|Schizophrenia  |Thrombocythaemia |Thrombocythaemia, increased risk, association with |Uterine serous carcinoma.|Li-Fraumeni syndrome|Leukemia risk|Breast and colon cancer.|Breast and/or ovarian cancer|Breast cancer|Breast cancer in BRCA1 or BRCA2 noncarriers|Breast cancer, and colorectal cancer. association with.|Breast cancer, association with|Breast cancer, association with.|Breast cancer, increased risk in homozygotes|Breast cancer, male, association with|Breast cancer, non-BRCA1/BRCA2 related|HNPCC-related colorectal cancer, association with|Glioma|Gastric cancer, increased risk, association with|Early death, breast cancer-specific death, and increased recurrence of breast cancer, in women with breast cancer, associatio|Colorectal cancer, association with|Colorectal cancer |Breast carcinoma	ICGC,
chr7	57498558	57498558	C	T	intergenic	MIR3147,ZNF716	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr12	100369908	100369908	A	G	intronic	ANKS1B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	Sertoli-cell-only syndrome|Schizophrenia  	ICGC,
chr3	122001099	122001099	T	C	intronic	CASR	unknown	SNV	-	-	0.1290	0.1192	rs2270916	0.1300	0.143171	0.1128	0.130	COSN15316138	-	COCA-CN|3|321|0.00935	not_specified	-	integument phenotype	Hypocalcaemia with hypercalciuria|Hypoparathyroidism|Hypoparathyroidism, autosomal dominant|Increased blood ionised calcium level|Increased serum ionized calcium, association with|Lower iCa levels, association with|Lower serum PTH levels and higher urinary calcium excretion, assoc. with|Neonatal hyperparathyroidism|Nephrolithiasis, association with|Pancreatitis  |Primary hyperparathyroidism with familial hypocalciuric hypercalcaemia.|Recurrent calcium kidney stone disease, association with|Serum calcium levels, association with|Tropical chronic pancreatitis|Hypocalcaemia|Hypertriglyceridaemia, increased risk|Hyperparathyroidism, neonatal primary|Chronic pancreatitis, association with|Colorectal adenoma, risk, association with|Epilepsy, idiopathic generalised |Higher iCa levels, association with|Higher total and ionised calcium concentrations, association|Hypercalcaemia  |Hypercalcaemia and hypercalciuria|Hypercalcaemia, association with|Hyperparathyroidism|Hypercalciuria, hypocalcaemic|Hypercalcaemia, hypocalciuric & hypoparathyroidism|Hypercalcaemia, hypocalciuric & hyperparathyroidism.|Hypercalcaemia, hypocalciuric & hyperparathyroidism|Hypercalcaemia, hypocalciuric 	ClinVar,COSMIC,ICGC,
chr17	11060946	11060946	G	A	intergenic	PIRT,SHISA6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	-,-	ICGC,
chr7	11847042	11847042	G	A	intronic	THSD7A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Autism 	ICGC,
chr3	57688739	57688752	TATATGTATATATA	-	intergenic	DENND6A,SLMAP	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|3|67|0.04478	-	-	-,craniofacial phenotype	-,Brugada syndrome    	ICGC,
chr5	122581452	122581452	G	A	intergenic	PRDM6,CEP120	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr2	66664914	66664914	C	T	exonic	MEIS1	nonsynonymous	SNV	0.014	0.015	8.132e-06	-	rs758777353	8.357e-06	-	-	-	COSM221648	-	-	-	-	integument phenotype	Restless legs syndrome, increased risk|Restless legs syndrome |Congenital heart defects	COSMIC,
chr2	216440738	216440738	C	A	intergenic	LOC102724849,LINC00607	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25801752	-	EOPC-DE|1|202|0.00495	-	-	-,-	-,-	COSMIC,ICGC,
chr4	134463103	134463103	G	T	intergenic	PCDH10,PABPC4L	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,-	Schizophrenia|Potential protein deficiency,Autism spectrum disorder  	ICGC,
chr11	18005249	18005249	-	A	intronic	SERGEF	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	-	ICGC,
chr8	67381549	67381549	A	G	downstream	ADHFE1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr21	10561459	10561459	G	A	intergenic	TEKT4P2,TPTE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,Potential protein deficiency	ICGC,
chr20	42885300	42885300	A	-	intronic	GDAP1L1	unknown	deletion	-	-	-	3.31e-05	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr10	67560408	67560408	A	-	intergenic	LOC101928913,CTNNA3	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,Tourette syndrome |Sinus venosus atrial septal defect|Neural tube defects|Cervical artery dissection|Autism spectrum disorder |Attention deficit hyperactivity disorder |Arrhythmogenic right ventricular cardiomyopathy|Alzheimer disease, increased risk, association with |Adenocarcinoma	ICGC,
chr18	42531028	42531028	G	C	exonic	SETBP1	nonsynonymous	SNV	0.003	1.0	-	-	-	-	-	-	-	COSM6532651	-	-	-	-	-	Schinzel-Giedion-like syndrome|Schinzel-Giedion syndrome|Mental retardation & expressive speech impairment|Intellectual disability, nonsyndromic|Expressive speech delay|Expressive language delay, hypotonia, short stature & behavioural problems|Autism	COSMIC,
chr19	56756315	56756315	G	A	intergenic	ZSCAN5A,ZNF542P	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6147746	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr2	113730655	113730655	G	T	intergenic	IL37,IL36G	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	ICGC,
chr3	18209299	18209299	C	T	intronic	LOC339862	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr12	101992443	101992443	C	T	intronic	MYBPC1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Lethal congenital contractural syndrome 4|Distal arthrogryposis type I|Colorectal cancer, increased risk, association with	ICGC,
chr4	35427859	35427859	C	T	intergenic	NONE,ARAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr16	66145872	66145872	C	A	intergenic	LINC00922,CDH5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1189381	-	-	-	-	-,integument phenotype	-,Autism|Haemorrhagic fever with renal syndrome, reduced severity, association with|Schizophrenia	COSMIC,
chr9	72473156	72473156	C	T	intronic	C9orf135	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr4	96121988	96121988	A	G	intronic	UNC5C	unknown	SNV	-	-	-	0.6693	rs13116313	-	0.61242	-	0.696	-	-	LAML-KR|1|205|0.00488	-	-	mortality/aging	Colorectal cancer  |Reduced proapoptotic activity	ICGC,
chr4	21963453	21963453	A	G	intergenic	KCNIP4,LOC100505912	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6822988	-	LIRI-JP|1|258|0.00388	-	-	-,-	Renal cell carcinoma ,-	COSMIC,ICGC,
chr4	164112160	164112160	T	A	intergenic	NAF1,NPY1R	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,integument phenotype	-,Blood pressure variation, association with	ICGC,
chr6	16596283	16596283	A	G	intronic	ATXN1	unknown	SNV	-	-	-	3.23e-05	rs181143619	-	0.000199681	-	-	-	-	MALY-DE|1|241|0.00415	-	-	mortality/aging	Spinocerebellar ataxia 1|Schizophrenia, association with |Maculopathy with spinocerebellar ataxia type 1.|Intellectual disability & behavioural abnormalities|Azoospermia, association with|Amyotrophic lateral sclerosis	ICGC,
chr18	74371502	74371502	G	T	intergenic	LOC101927651,LOC400661	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	-,-	ICGC,
chr7	139914212	139914212	C	G	intergenic	JHDM1D-AS1,SLC37A3	unknown	SNV	-	-	-	0.0008	rs149278486	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,Hyperinsulism	ICGC,
chr12	78251122	78251122	G	T	intronic	NAV3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21790279	-	BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr7	153478375	153478375	G	A	intergenic	ACTR3B,DPP6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,nervous system phenotype	-,Autism spectrum disorder  |Schizophrenia  |Ventricular fibrillation, idiopathic 	ICGC,
chr1	198765333	198765333	G	A	intergenic	PTPRC,MIR181A1HG	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,-	Variant CD45 expression|Multiple sclerosis|Immunodeficiency, severe combined|Hepatitis C, protection against, association with.|Defective splicing|Altered immune function,-	ICGC,
chr13	71805860	71805860	A	G	intergenic	LINC00348,DACH1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,mortality/aging	-,Renal hypodysplasia	ICGC,
chr4	177873505	177873505	C	T	intergenic	VEGFC,NEIL3	unknown	SNV	-	-	-	0.0002	rs371728314	-	0.00878594	-	0.007	COSN18896292	-	MELA-AU|2|183|0.01093	-	-	mortality/aging,immune system phenotype	Lymphoedema, primary, Milroy-like,-	COSMIC,ICGC,
chr8	34251201	34251201	A	T	intergenic	DUSP26,UNC5D	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17798345	-	ESAD-UK|1|301|0.00332,MELA-AU|1|183|0.00546	-	-	-,-	-,-	COSMIC,ICGC,
chr3	87735952	87735952	T	C	intergenic	POU1F1,HTR1F	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN4822306	-	MALY-DE|1|241|0.00415	-	-	mortality/aging,integument phenotype	Mental retardation, in women, association with|Pituitary hormone deficiencies, multiple|Pituitary hormone deficiency,-	COSMIC,ICGC,
chr6	77847959	77847959	T	A	intergenic	IMPG1,HTR1B	unknown	SNV	-	-	-	0.0002	rs556145927	-	0.000199681	-	-	-	-	ESAD-UK|1|301|0.00332,PACA-CA|1|268|0.00373	-	-	-,skeleton phenotype	Macular dystrophy, vitelliform,Suicidal ideation, in major depression, association with|Receptor variant|Alcohol dependence, association with|Alcohol and drug abuse, association with|Aggressive behaviour, association with	ICGC,
chr5	130177250	130177250	A	C	intergenic	CHSY3,HINT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,cellular phenotype	-,Axonal neuropathy with neuromyotonia	ICGC,
chr3	5113788	5113788	A	T	intergenic	BHLHE40,ARL8B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype,-	-,-	ICGC,
chr13	57055779	57055779	C	T	intergenic	MIR5007,PRR20A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1614495	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr9	23416174	23416174	C	T	intergenic	LINC01239,LOC101929563	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27351677	-	BTCA-SG|1|71|0.01408	-	-	-,-	-,-	COSMIC,ICGC,
chr4	40199049	40199049	T	C	intronic	RHOH	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25615622	-	MALY-DE|1|241|0.00415	-	-	hematopoietic system phenotype	RHOH deficiency	COSMIC,ICGC,
chr6	101752774	101752774	G	A	intergenic	ASCC3,GRIK2	unknown	SNV	-	-	-	3.234e-05	-	-	-	-	-	COSN4950948	-	ESAD-UK|1|301|0.00332	-	-	other phenotype,behavior/neurological phenotype	Colorectal cancer, increased risk, association with|Intellectual disability  ,Mental retardation, non-syndromic, autosomal recessive	COSMIC,COSMIC,ICGC,
chr11	40366508	40366508	A	G	intronic	LRRC4C	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN149474	-	-	-	-	-	-	COSMIC,
chr8	68711532	68711532	G	T	intergenic	CPA6,PREX2	unknown	SNV	-	-	-	-	rs564861763	-	0.000199681	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,behavior/neurological phenotype	Temporal lobe epilepsy, association with|Temporal lobe epilepsy|Reduced protein expression|Reduced activity|Potential protein deficiency|Febrile seizures|Duane retraction syndrome 1,-	ICGC,
chr16	72759157	72759157	G	T	intergenic	PMFBP1,ZFHX3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN4767130	-	MALY-DE|1|241|0.00415	-	-	-,mortality/aging	Schizophrenia,Prostate cancer risk, association with	COSMIC,ICGC,
chr2	104270337	104270337	C	T	intergenic	TMEM182,LOC100287010	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	ICGC,
chr10	44644937	44644937	T	-	intergenic	LINC00841,LOC100130539	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr12	47811378	47811378	A	T	intergenic	PCED1B,RPAP3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21374582	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr7	155237096	155237096	C	A	intergenic	BLACE,EN2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9315338	-	PAEN-AU|1|52|0.01923	-	-	-,mortality/aging	-,Autism spectrum disorder, association with|Intellectual and developmental disabilities	COSMIC,ICGC,
chrX	137177529	137177529	G	A	intergenic	ZIC3,LINC00889	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Situs abnormality|Heterotaxy|Congenital heart disease |Cardiac malformation,-	ICGC,
chr1	21039098	21039098	-	TATATATATAATATAGATATTATC	intronic	KIF17	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	behavior/neurological phenotype	Schizophrenia   	ICGC,
chr20	5297090	5297090	C	-	intergenic	PROKR2,LINC00658	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	GACA-JP|1|585|0.00171	-	-	integument phenotype,-	Kallmann syndrome, reversible|Kallmann syndrome|Hypothalamic amenorrhea|Hypopituitarism with pituitary stalk interruption|Hypopituitarism and septo-optic dysplasia|Hypopituitarism|Hypogonadotropic hypogonadism|Hypogonadism|Hirschsprung disease |GnRH deficiency|Combined pituitary hormone deficiency / septic-optic dysplasia,-	ICGC,
chrX	113782578	113782578	A	C	intergenic	LOC101928437,HTR2C	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7683158	-	PACA-AU|1|391|0.00256	-	-	-,integument phenotype	-,Tourette syndrome, association with|Tardive dyskinesia, association with|Suicide, association with|Reduced promoter activity|Premature ejaculation, association with|Increased promoter activity, association with|Hallucinations, in Alzheimer disease, association|Greater dopamine release|Alcohol use disorder comorbidity, association with|Anxiety, and Appetite disturbances in females, in Alzheimer disease, association with.|Bipolar affective disorder, association with|BMI, association with|Depression, in Alzheimer disease, association with.|Diabetes, association with	COSMIC,ICGC,
chr7	130592635	130592635	A	G	ncRNA_intronic	LINC-PINT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr2	78307612	78307612	G	A	ncRNA_intronic	LOC101927967	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	-	ICGC,
chr12	41953999	41953999	A	T	intronic	PDZRN4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26592402	-	LICA-CN|1|402|0.00249	-	-	-	-	COSMIC,ICGC,
chr12	41508423	41508423	C	A	intergenic	CNTN1,PDZRN4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24709919	-	GACA-CN|1|123|0.00813	-	-	mortality/aging,-	Myopathy, lethal congenital|Pancreatic cancer ,-	COSMIC,ICGC,
chr17	44315544	44315544	C	T	intergenic	KANSL1,LOC644172	unknown	SNV	-	-	-	8.212e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	other phenotype,-	17q21.31 microdeletion syndrome|Red blood cell count, association with,-	ICGC,
chr22	32073734	32073734	C	G	intergenic	PISD,PRR14L	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	-,-	ICGC,
chrY	10009844	10009844	A	G	intergenic	TTTY23B,NONE	unknown	SNV	-	-	-	-	rs77946370	-	-	-	-	COSN6709560	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr8	21433199	21433199	G	A	intergenic	LOC101929172,GFRA2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,-	ICGC,
chr5	53369430	53369430	G	A	intronic	ARL15	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr13	24490626	24490626	A	G	ncRNA_intronic	ANKRD20A19P	unknown	SNV	-	-	-	0.3291	rs1325671	-	0.246406	-	0.283	-	-	ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488	-	-	-	-	ICGC,
chr18	5473953	5473953	G	A	intronic	EPB41L3	unknown	SNV	-	-	-	3.23e-05	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	mortality/aging	Potential protein deficiency	ICGC,
chr1	191238915	191238915	G	T	intergenic	LOC440704,RGS18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,no phenotypic analysis	-,Potential protein deficiency	ICGC,
chr2	50696959	50696959	G	A	intronic	NRXN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Hypotonia|Hypotonia & encephalopathy|Increased white matter volume, association with|Intellectual disability  |Intellectual disability & attention deficit hyperactivity disorder|Intellectual disability & hearing loss|Intellectual disability & pervasive developmental disorder|Intellectual disability and autism|Intellectual disability, nonsyndromic |Intellectual disability, seizures, dysmorphisms & language delay|Growth retardation  |Epilepsy, myoclonic seizures & speech delay|Developmental disorder|Developmental disorder & attention deficit hyperactivity disorder|Developmental disorder, seizures & attention deficit hyperactivity disorder|Developmental/intellectual disability, hypotonia & dysmorphic features|Disorder of muscle, ligament & fascia|Encephalopathy  |Epilepsy  |Epilepsy with cognitive impairment / autism spectrum disorder|Epilepsy with focal seizures|Epilepsy, generalised |Intellectual disability, seizures, language delay & hypotonia|Language delay|Learning difficulties|Respiratory distress & sepsis|Respiratory distress syndrome|Schizophrenia |Schizophrenia, childhood onset |Schizophrenia, disorganised type|Seizures, generalized tonic-clonic & attention deficit hyperactivity disorder|Sensory integration disorder & attention deficit hyperactivity disorder|Speech delay & social communication difficulties|Tourette syndrome|Pervasive developmental disorder / hypotonia|Pervasive developmental disorder|Pervasive developmental delay / mental retardation, lack of coordination & hearing loss|Learning difficulties, ADHD & autism|Mental retardation|Mental retardation, autism, vertebral malformations|Mental retardation, Pitt-Hopkins-like|Microcephaly & mental retardation|Multiple congenital anomalies  |Multiple disabilities|Myoclonic epilepsy   |Neurodevelopmental disorder  |Vertebral anomalies|Developmental delay, speech delay & social communication difficulties|Attention deficit hyperactivity disorder |Autism spectrum disorder, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability & language delay|Autism spectrum disorder, intellectual disability, dysmorphisms, developmental delay & language delay|Autism spectrum disorder, intellectual disability, seizures & developmental delay|Autism spectrum disorder, intellectual disability, seizures, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability, seizures, dysmorphisms & language delay|Autism spectrum disorder, seizures, developmental delay & language delay|Autism, intellectual disability & attention deficit hyperactivity disorder|Autistic disorder|Autism spectrum disorder with developmental & speech delay|Autism spectrum disorder & seizures|Autism spectrum disorder & language delay|Autism |Autism & learning difficulties|Autism & mental retardation|Autism & seizures|Autism spectrum disorder|Autism spectrum disorder & attention deficit hyperactivity disorder|Autism spectrum disorder & developmental delay|Autism spectrum disorder & dysmorphic features|Autism spectrum disorder & intellectual disability|Behavioural problems|Congenital heart defect  |Craniofacial dysmorphism|Developmental delay & speech/motor delay|Developmental delay with early-onset epilepsy|Developmental delay, dysmorphic features & short stature|Developmental delay, epilepsy, autism|Developmental delay, language delay & hypotonia|Developmental delay, learning difficulties, ADHD|Developmental delay, microcephaly & behavioural problems|Developmental delay, pulmonic stenosis & autism spectrum disorder|Developmental delay, short stature and diaphragmatic hernia|Developmental delay, speech delay & microcephaly|Developmental delay & seizures|Developmental delay & seizure disorder|Cystic hygroma, hydrops & micrognathia|Cystic hygroma, shortened upper limbs & fetal demise|Developmental & speech delay|Developmental delay|Developmental delay / autism|Developmental delay & autism|Developmental delay & dysmorphic features|Developmental delay & epilepsy|Developmental delay & hypotonia|Developmental delay & multiple congenital anomalies	ICGC,
chr7	111085448	111085448	-	A	intronic	IMMP2L	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	reproductive system phenotype	Gilles de la Tourette syndrome|Autism	ICGC,
chr3	166338903	166338903	A	C	intergenic	BCHE,ZBBX	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	mortality/aging,-	Serum cholinesterase deficiency|Potential protein deficiency|Obesity and triglyceride levels, association with|Hypocholinesterasaemia|Fronto-temporal dementia, association with|Cholinesterasaemia|Butyrylcholinesterase variant|Butyrylcholinesterase deficiency|Addiction to crack cocaine, association with|Acholinesterasaemia,-	ICGC,
chr3	131776081	131776081	C	A	intergenic	CPNE4,ACPP	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9756780	-	RECA-EU|1|422|0.00237	-	-	-,integument phenotype	-,Potential protein deficiency	COSMIC,ICGC,
chr13	87294948	87294948	C	G	intergenic	SLITRK6,MIR4500HG	unknown	SNV	-	-	-	-	rs867138393	-	-	-	-	COSN16909398	-	PACA-CA|1|268|0.00373	-	-	behavior/neurological phenotype,-	High myopia and sensorineural deafness,-	COSMIC,ICGC,
chr19	32311644	32311644	C	T	intergenic	THEG5,CTC-360P9.3	unknown	SNV	-	-	-	3.229e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	50076184	50076184	T	C	intronic	AGBL4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5741850	-	LINC-JP|1|394|0.00254	-	-	-	Autism spectrum disorder, association with	COSMIC,ICGC,
chr3	103545779	103545779	A	T	intergenic	ZPLD1,MIR548A3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Cerebral cavernous malformations,-	ICGC,
chr16	10858802	10858802	C	T	intronic	NUBP1	unknown	SNV	-	-	-	0.2849	rs62027826	-	0.271565	-	0.196	-	-	LAML-KR|1|205|0.00488	-	-	mortality/aging	-	ICGC,
chr12	100380488	100380488	T	A	intergenic	ANKS1B,UHRF1BP1L	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PEME-CA|1|112|0.00893	-	-	-,-	Sertoli-cell-only syndrome|Schizophrenia  ,-	ICGC,
chr3	84329181	84329181	C	T	intergenic	NONE,LINC00971	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7713318	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	COSMIC,ICGC,
chr2	43613460	43613460	-	T	intronic	THADA	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408,PRAD-CA|16|308|0.05195	-	-	-	Diabetes, type 2, association with 	ICGC,
chr8	18658346	18658346	A	G	intronic	PSD3	unknown	SNV	-	-	-	0.3707	rs13276530	-	0.253994	-	0.457	-	-	LAML-KR|1|205|0.00488	-	-	-	-	ICGC,
chr9	138415897	138415897	C	T	intronic	LCN1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20065320	-	BTCA-JP|1|239|0.00418	-	-	-	-	COSMIC,ICGC,
chr6	49260938	49260938	C	T	intergenic	PTCHD4,MUT	unknown	SNV	-	-	-	3.231e-05	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Methylmalonic aciduria	ICGC,
chr6	117738289	117738289	C	T	intronic	ROS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	reproductive system phenotype	Potential protein deficiency|Myocardial infarction, association with|Leukemia risk|Autism	ICGC,
chr10	80763394	80763394	G	T	ncRNA_intronic	ZMIZ1-AS1	unknown	SNV	-	-	0	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr4	16242342	16242342	A	T	ncRNA_intronic	TAPT1-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr7	48480975	48480975	C	T	intronic	ABCA13	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-	Schizophrenia / depression|Schizophrenia / bipolar disorder / depression |Schizophrenia  |Bipolar disorder  |Autism|Anorectal malformation	ICGC,
chr10	106866027	106866027	G	A	intronic	SORCS3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr4	40183461	40183461	A	C	intergenic	N4BP2,RHOH	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23360355	-	MALY-DE|1|241|0.00415	-	-	-,hematopoietic system phenotype	-,RHOH deficiency	COSMIC,ICGC,
chr10	116051010	116051010	C	T	UTR3	VWA2	unknown	SNV	-	-	4.208e-05	9.703e-05	-	-	-	-	-	COSN20041702	-	BTCA-JP|1|239|0.00418	-	-	-	-	COSMIC,ICGC,
chr1	179531343	179531343	C	A	intronic	NPHS2	unknown	SNV	-	-	-	0.0085	rs78343709	-	0.01877	-	0.029	-	-	LAML-KR|1|205|0.00488	-	-	mortality/aging	Nephrotic syndrome, steroid-resistant|Nondiabetic end-stage renal disease, association with|Proteinuria, asymptomatic |Reduced expression|Reduced expression, association with|Thin basement membrane disease |Nephrotic syndrome, steroid resistant?|Nephrotic syndrome, steroid resistant|Nephrotic syndrome|Microalbuminuria, association with|Focal segmental glomerulosclerosis.|Focal segmental glomerulosclerosis, association with|Focal segmental glomerulosclerosis|Familial hematuria, modifier of|Adult-onset of steroid-resistant nephrotic syndrome|Thin-basement-membrane nephropathy proteinuria	ICGC,
chr17	18051392	18051392	C	T	exonic	MYO15A	nonsynonymous	SNV	0.0	1.0	1.629e-05	-	rs770280616	2.498e-05	-	-	-	-	-	-	Nonsyndromic_Hearing_Loss,_Recessive	-	behavior/neurological phenotype	Sensorineural deafness in SMS|Retinitis pigmentosa?|Retinitis pigmentosa|Hearing loss, non-syndromic, autosomal recessive  |Hearing loss, non-syndromic sensorineural|Hearing loss, non-syndromic|Hearing loss|Deafness, non-syndromic, autosomal recessive|Deafness, non-syndromic|Deafness  	ClinVar,
chr21	10522056	10522056	A	C	intergenic	TEKT4P2,TPTE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,Potential protein deficiency	ICGC,
chr8	97973883	97973883	C	T	intronic	CPQ	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Mild mental retardation and generalised overgrowth	ICGC,
chr3	53397997	53397997	C	T	intergenic	DCP1A,CACNA1D	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Primary aldosteronism|Potential protein deficiency|Deafness and brachycardia|Autism	ICGC,
chr2	22462196	22462196	A	G	intergenic	LOC645949,LOC102723362	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8767028	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr7	149027010	149027010	C	A	intergenic	LOC155060,ZNF777	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr13	106338191	106338191	G	A	intergenic	DAOA-AS1,LINC00343	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr11	22141665	22141665	C	A	intergenic	NELL1,ANO5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	Crohn disease, association with,Persistent asymptomatic hyperCKemia|Myopathy of posterior calf muscles, late-onset|Myopathy / muscular dystrophy|Myopathy  |Muscular dystrophy, limb girdle 2L.|Muscular dystrophy, limb girdle 2L|Muscular dystrophy  |Miyoshi-like distal myopathy|Miyoshi myopathy, non-dysferlin|Miyoshi distal myopathy.|Miyoshi distal myopathy|Gnathodiaphyseal dysplasia|Autism 	ICGC,
chr8	88453105	88453105	A	G	intergenic	CNBD1,DCAF4L2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	-,-	ICGC,
chr19	4562160	4562160	C	T	intergenic	SEMA6B,TNFAIP8L1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	nervous system phenotype,-	-,-	ICGC,
chr10	117336174	117336174	T	C	intronic	ATRNL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	integument phenotype	Cognitive impairment, autism & dysmorphic features 	ICGC,
chr3	9079449	9079449	G	C	intronic	SRGAP3	unknown	SNV	-	-	-	0.2397	rs2271205	-	0.224441	-	0.239	-	-	ESAD-UK|1|301|0.00332	-	-	behavior/neurological phenotype	SLIT-ROBO gap 3 deficiency|Schizophrenia, childhood onset with psychotic illness|Schizophrenia, childhood onset |Mental retardation|Intellectual disability  |Autism	ICGC,
chr9	114996231	114996231	G	A	ncRNA_intronic	MIR3134	unknown	SNV	-	-	-	0.0008	rs77404729	-	-	-	-	COSN15591936	-	RECA-EU|1|422|0.00237	-	-	-	-	COSMIC,ICGC,
chr7	88919179	88919179	A	T	intronic	ZNF804B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-	-	ICGC,
chr1	22551161	22551161	G	A	intergenic	WNT4,ZBTB40	unknown	SNV	-	-	-	0.0002	-	-	-	-	0.007	-	-	PBCA-DE|1|499|0.00200	-	-	integument phenotype,-	SERKAL syndrome|Rokitansky-Kuster-Hauser syndrome|Renal hypodysplasia|Primary amenorrhea with Mullerian Duct abnormality|Mullerian duct abnormality and hyperandrogenism,Intellectual disability  	ICGC,
chr15	86891752	86891752	T	A	intronic	AGBL1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5757264	-	LINC-JP|1|394|0.00254	-	-	-	Fuchs corneal dystrophy, late-onset 	COSMIC,ICGC,
chr4	118083416	118083416	C	T	intergenic	TRAM1L1,NDST3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16560102	-	PACA-CA|1|268|0.00373	-	-	-,mortality/aging	-,-	COSMIC,ICGC,
chr7	157477522	157477522	G	A	intronic	PTPRN2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	homeostasis/metabolism phenotype	-	ICGC,
chr6	29340348	29340348	C	A	downstream	OR12D3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr4	183960120	183960120	C	T	ncRNA_exonic	FAM92A1P2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5029118	SKCM|1|368|0.00272	SKCM-US|1|335|0.00299,MELA-AU|1|183|0.00546	-	-	-	-	COSMIC,TCGA,ICGC,
chr4	108139662	108139662	G	A	intergenic	DKK2,PAPSS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype,-	Schizophrenia, association with  ,-	ICGC,
chr13	67080676	67080676	A	C	intronic	PCDH9	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19363270	-	LICA-FR|1|252|0.00397	-	-	-	-	COSMIC,ICGC,
chr16	70817129	70817129	A	T	intronic	VAC14	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LINC-JP|1|394|0.00254	-	-	integument phenotype	-	ICGC,
chr3	67835582	67835582	T	G	ncRNA_intronic	SUCLG2-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr11	61494072	61494072	CC	TT	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr20	40996699	40996699	A	T	intronic	PTPRT	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16427923	-	LIRI-JP|1|258|0.00388	-	-	homeostasis/metabolism phenotype	Intellectual disability, behavioural problems, microcephaly & cardiac defect|Attention deficit hyperactivity disorder 	COSMIC,ICGC,
chr17	18665860	18665860	C	A	intronic	FBXW10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr19	54923208	54923208	-	GTGTGTGTGTTT	intergenic	LAIR1,TTYH1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	hematopoietic system phenotype,mortality/aging	-,-	ICGC,
chr17	20952852	20952852	C	T	intergenic	USP22,HP08942	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	-,-	ICGC,
chr3	151842530	151842530	-	AA	intergenic	AADACL2-AS1,MBNL1-AS1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	-,-	ICGC,
chr14	85737650	85737650	A	C	intergenic	NONE,LINC00911	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8387814	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	COSMIC,ICGC,
chr3	169017665	169017665	C	T	intronic	MECOM	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25024561	-	LICA-FR|1|252|0.00397	-	-	mortality/aging	Decreased expression|Thrombocytopaenia with aplastic anaemia	COSMIC,ICGC,
chr5	16692787	16692787	T	C	intronic	MYO10	unknown	SNV	-	-	-	0.1835	rs31310	-	-	-	0.123	-	-	ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488	-	-	-	-	ICGC,
chr4	78370131	78370131	C	T	intergenic	CCNG2,CXCL13	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,hematopoietic system phenotype	-,-	ICGC,
chr1	81288524	81288524	C	T	intergenic	ELTD1,LPHN2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	normal phenotype,mortality/aging	-,Schizophrenia	ICGC,
chr4	121741370	121741370	G	T	intronic	PRDM5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25085075	-	MALY-DE|1|241|0.00415	-	-	skeleton phenotype	Brittle cornea syndrome	COSMIC,ICGC,
chr18	5891629	5891629	G	T	exonic	TMEM200C	nonsynonymous	SNV	0.002	0.971	-	-	-	-	-	-	-	-	BLCA|1|396|0.00253	-	-	-	-	-	TCGA,
chr19	22943326	22943326	C	T	intronic	ZNF99	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Potential protein deficiency	ICGC,
chr9	27021295	27021295	T	G	intronic	IFT74	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr15	23679807	23679807	C	T	intergenic	GOLGA8S,MIR4508	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr7	61904109	61904109	C	A	intergenic	NONE,ZNF733P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	EOPC-DE|1|202|0.00495	-	-	-,-	-,-	ICGC,
chr3	67225112	67225112	G	A	intergenic	KBTBD8,MIR4272	unknown	SNV	-	-	-	-	rs762779387	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	40777145	40777145	A	T	intronic	COL9A2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20345798	-	COCA-CN|1|321|0.00312	-	-	-	Stickler syndrome|Multiple epiphyseal dysplasia|Lumbar stenosis|Intervertebral disc disease|Disc degeneration, association with	COSMIC,ICGC,
chr7	87834184	87834184	C	T	downstream	SRI	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	UTCA-FR|1|20|0.05000	-	-	-	Cardiomyopathy, hypertropic|Potential protein deficiency	ICGC,
chr1	73586853	73586853	C	T	intergenic	NEGR1,LINC01360	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,-	Obesity, association with|Dyslexia |Body mass index, association with|Attention deficit hyperactivity disorder,-	ICGC,
chr7	33230401	33230401	G	A	intronic	BBS9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-	Wilms tumour |Tetralogy of Fallot|Nephronophthisis-related ciliopathy|Bardet-Biedl syndrome	ICGC,
chr19	53993930	53993930	G	T	exonic	ZNF813	synonymous	SNV	-	-	-	-	-	-	-	-	-	-	-	ORCA-IN|1|178|0.00562	-	-	-	Autism	ICGC,
chr21	45164832	45164832	C	T	intronic	PDXK	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging	Altered enzyme activity	ICGC,
chr14	87534533	87534533	C	G	intergenic	LOC283585,GALC	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6263304	-	LIRI-JP|1|258|0.00388	-	-	-,mortality/aging	-,Krabbe disease, association with|Krabbe disease|Glaucoma, primary open-angle|Glaucoma, primary open angle	COSMIC,ICGC,
chr17	49621740	49621740	G	A	intergenic	LOC440446,CA10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,Schizophrenia	ICGC,
chrX	109887977	109887977	C	G	intergenic	TDGF1P3,CHRDL1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21282985	-	BRCA-UK|1|141|0.00709,BRCA-EU|1|569|0.00176	-	-	-,-	-,Megalocornea, X-linked	COSMIC,COSMIC,ICGC,
chr6	73577094	73577094	T	C	intronic	KCNQ5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-	Schizophrenia	ICGC,
chr1	59629412	59629412	T	A	intergenic	HSD52,FGGY	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	45106435	45106435	G	T	intronic	RNF220	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr3	84195167	84195167	G	T	intergenic	NONE,LINC00971	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25706310	-	EOPC-DE|1|202|0.00495	-	-	-,-	-,-	COSMIC,ICGC,
chr7	113304372	113304372	A	G	intergenic	LINC00998,PPP1R3A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,growth/size phenotype	-,Insulin resistance, association with|Insulin resistance|Glycemia variation, association with	ICGC,
chr19	31939878	31939878	G	A	intergenic	TSHZ3,THEG5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	-,-	ICGC,
chr7	158341800	158341800	C	T	intronic	PTPRN2	unknown	SNV	-	-	-	0.0029	rs141402221	-	0.00399361	-	0.007	COSN22333828	-	BRCA-EU|1|569|0.00176	-	-	homeostasis/metabolism phenotype	-	COSMIC,ICGC,
chr2	77157465	77157466	CA	-	intronic	LRRTM4	unknown	deletion	-	-	-	0	rs145473862	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr12	34718662	34718662	C	T	intergenic	ALG10,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr17	57364472	57364472	A	G	intergenic	GDPD1,YPEL2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22476862	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr18	1837566	1837566	C	T	intergenic	LINC00470,METTL4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	88610158	88610158	A	T	intergenic	MEF2C-AS1,MIR3660	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9959527	-	RECA-EU|1|422|0.00237	-	-	-,-	-,-	COSMIC,ICGC,
chr4	181569900	181569900	G	A	intergenic	NONE,LINC00290	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9892369	-	RECA-EU|1|422|0.00237	-	-	-,-	-,-	COSMIC,ICGC,
chr10	91252771	91252771	G	A	intronic	SLC16A12	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-	Cataract, age related|Cataract, juvenile with microcornea and renal glucosuria	ICGC,
chrX	126003700	126003700	-	T	intergenic	PRR32,ACTRT1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr21	26392946	26392946	G	A	ncRNA_intronic	LOC339622	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr4	177605128	177605128	T	G	exonic	VEGFC	nonsynonymous	SNV	-	0.999	-	-	-	-	-	-	-	COSM6099861	LUAD|1|543|0.00184	LUAD-US|1|38|0.02632	-	-	mortality/aging	Lymphoedema, primary, Milroy-like	COSMIC,TCGA,ICGC,
chrX	89768547	89768547	G	A	intergenic	TGIF2LX,PABPC5-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr4	137607336	137607336	C	T	intergenic	LINC00613,PCDH18	unknown	SNV	-	-	-	6.459e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Intellectual disability  	ICGC,
chr7	52699847	52699847	G	A	intergenic	COBL,POM121L12	unknown	SNV	-	-	-	0.0001	rs868842863	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	nervous system phenotype,-	-,-	ICGC,
chr3	122642090	122642090	T	C	intronic	SEMA5B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	hematopoietic system phenotype	-	ICGC,
chr7	127353703	127353703	C	T	intronic	SND1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	Schizophrenia	ICGC,
chr7	118874720	118874720	G	T	intergenic	ANKRD7,KCND2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,integument phenotype	-,Epilepsy, temporal lobe	ICGC,
chr18	76303928	76303928	A	T	intergenic	LINC01029,SALL3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,-	ICGC,
chr1	238505035	238505035	A	G	intergenic	LOC100130331,LINC01139	unknown	SNV	-	-	-	0.2774	rs12756798	-	0.229832	-	0.239	-	-	ESAD-UK|2|301|0.00664	-	-	-,-	-,-	ICGC,
chr18	12962848	12962848	-	T	intronic	SEH1L	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|2|71|0.02817,PRAD-CA|2|308|0.00649	-	-	mortality/aging	-	ICGC,
chr11	31994870	31994870	C	T	intergenic	DKFZp686K1684,LOC100506675	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr3	175728309	175728309	C	T	intergenic	NAALADL2,LINC01208	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1932572	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,COSMIC,ICGC,
chrX	38359681	38359681	T	G	intergenic	OTC,TSPAN7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	integument phenotype,-	Alzheimer disease, association with|Hyperammonaemia|Ornithine transcarbamylase deficiency|Ornithine transcarbamylase deficiency & chronic granulomatous disease,Rolandic epilepsy |Oligozoospermia|Mental retardation, X-linked|Intellectual disability, nonsyndromic X-linked	ICGC,
chr22	23546929	23546929	C	T	intronic	BCR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Bipolar disorder, association with |Lithium prophylaxis, association with	ICGC,
chr6	93596564	93596565	AC	-	intergenic	CASC6,EPHA7	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,nervous system phenotype	-,Development delay and dysmorphic features|Leukemia, risk, association with 	ICGC,
chr5	52254485	52254485	-	C	intergenic	ITGA1,ITGA2	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN14687328	-	-	-	-	immune system phenotype,integument phenotype	-,Unstable angina pectoris, association with|Reduced transcription|Reduced platelet count nadir, association with.|Reduced colorectal cancer risk|Reduced collagen-induced aggregation|Oral cancer, association with|Myocardial infarction, association with|Glanzmann thrombasthenia, milder phenotype, association with|Fetal/neonatal alloimmune thrombocytopenia|Coronary artery disease, protection, association with|Alloimmune thrombocytopenia, neonatal, association with	COSMIC,
chr11	84376101	84376101	C	A	intronic	DLG2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	integument phenotype	Schizophrenia and epilepsy|Myopathy  |Intellectual disability, autism and epilepsy|Hypochondriasis|Dysmorphic features & speech delay|Developmental delay and dysmorphic features|Developmental delay  	ICGC,
chrX	78937713	78937713	T	G	intergenic	ITM2A,TBX22	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8194864	-	PACA-CA|1|268|0.00373	-	-	-,mortality/aging	-,Cleft palate, non-syndromic|Cleft palate and ankyloglossia, association with|Cleft palate and ankyloglossia|Cleft palate|Cleft lip and palate|Ankyloglossia |Abruzzo-Erickson syndrome	COSMIC,ICGC,
chr10	113816404	113816404	G	A	intergenic	ADRA2A,GPAM	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN10059943	-	RECA-EU|1|422|0.00237	-	-	mortality/aging,growth/size phenotype	Diabetes, type 2, increased risk, association with|Increased fasting glucose levels, association with|Increased receptor activity|Increased trunk to extremity skinfold ratio in women, association,Complex I deficiency|Lung cancer, susceptibility to, association with	COSMIC,ICGC,
chr3	19550040	19550040	A	T	intronic	KCNH8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr7	25800885	25800885	A	G	intergenic	NPVF,RNU6-16P	unknown	SNV	-	-	-	0.4318	rs58389681	-	0.598642	-	0.399	COSN24321059	-	ESAD-UK|1|301|0.00332,SKCA-BR|1|100|0.01000	-	-	-,-	-,-	COSMIC,ICGC,
chrX	121448902	121448902	T	G	intergenic	GLUD2,GRIA3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,integument phenotype	Parkinson disease, earlier onset, association with,Mental retardation, X-linked|Intellectual disability, X-linked with facial dysmorphism|Intellectual disability, X-linked|Autism spectrum disorder	ICGC,
chr3	136118506	136118506	C	T	intronic	STAG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	integument phenotype	Intellectual disability, nonsyndromic	ICGC,
chr9	73441999	73441999	G	C	intronic	TRPM3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26120168	-	PRAD-UK|1|140|0.00714	-	-	integument phenotype	Schizophrenia  |Mental retardation	COSMIC,ICGC,
chr7	146369104	146369104	C	T	intronic	CNTNAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176,SKCA-BR|1|100|0.01000	-	-	integument phenotype	Gilles de la Tourette syndrome|Intellectual disability  |Learning disability & speech problems|Mental retardation |Mental retardation, Pitt-Hopkins-like|Multiple congenital anomalies  |Seizures, neonatal |Speech delay  |Stuttering |Epileptic encephalopathy  |Epilepsy and schizophrenia|Autism|Autism spectrum disorder |Autism spectrum disorder, modifier of|Childhood apraxia of speech|Cortical dysplasia-focal epilepsy syndrome|Developmental and/or speech and/or behavioural problems|Developmental delay  |Developmental delay & dysmorphic features|Dyslexia 	ICGC,
chr18	1687605	1687605	A	-	intergenic	LINC00470,METTL4	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	RECA-EU|1|422|0.00237	-	-	-,-	-,-	ICGC,
chr13	71172698	71172698	T	C	intergenic	ATXN8OS,LINC00348	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26164402	-	PRAD-UK|1|140|0.00714	-	-	behavior/neurological phenotype,-	Huntington disease  |Spinocerebellar ataxia 8,-	COSMIC,ICGC,
chr2	91719423	91719423	G	A	intergenic	NONE,LOC654342	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr5	73763663	73763663	G	C	intergenic	LINC01333,ENC1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr13	65394131	65394131	G	A	intergenic	OR7E156P,PCDH9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,-	-,-	ICGC,
chr11	21674358	21674358	G	A	intergenic	NELL1,ANO5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Crohn disease, association with,Persistent asymptomatic hyperCKemia|Myopathy of posterior calf muscles, late-onset|Myopathy / muscular dystrophy|Myopathy  |Muscular dystrophy, limb girdle 2L.|Muscular dystrophy, limb girdle 2L|Muscular dystrophy  |Miyoshi-like distal myopathy|Miyoshi myopathy, non-dysferlin|Miyoshi distal myopathy.|Miyoshi distal myopathy|Gnathodiaphyseal dysplasia|Autism 	ICGC,
chr8	86288975	86288975	G	A	intronic	CA1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|3|183|0.01639	-	-	-	Carbonic anhydrase deficiency	ICGC,
chr6	88135793	88135793	T	G	intronic	C6orf165	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21074978	-	BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr17	2044738	2044738	G	A	intronic	SMG6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	no phenotypic analysis	-	ICGC,
chr10	33198650	33198650	A	G	intronic	ITGB1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	integument phenotype	-	ICGC,
chr4	101048996	101048996	C	T	intergenic	LOC256880,DDIT4L	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Potential protein deficiency	ICGC,
chr4	146576496	146576496	T	G	exonic	MMAA	nonsynonymous	SNV	0.008	0.967	-	-	-	-	-	-	-	COSM1485714	BRCA|1|982|0.00102	BRCA-US|1|955|0.00105	-	-	-	Methylmalonic acidaemia	COSMIC,TCGA,ICGC,
chr11	293881	293881	G	T	exonic	ATHL1	nonsynonymous	SNV	0.066	0.015	-	-	-	-	-	-	-	-	-	COAD-US|1|254|0.00394	-	-	-	-	ICGC,
chr1	194623696	194623696	T	C	intergenic	CDC73,KCNT2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	integument phenotype,-	Potential protein deficiency|Parathyroid carcinoma/adenoma|Parathyroid carcinoma.|Parathyroid carcinoma|Parathyroid cancer|Parathyroid adenoma.|Parathyroid adenoma |Hyperparathyroidism, primary.|Hyperparathyroidism, primary|Hyperparathyroidism, isolated|Hyperparathyroidism-jaw tumour syndrome.|Hyperparathyroidism-jaw tumour syndrome,-	ICGC,
chr4	84913639	84913639	A	C	intergenic	AGPAT9,NKX6-1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,-	ICGC,
chr3	176850905	176850905	C	A	intronic	TBL1XR1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26461545	-	LIAD-FR|1|32|0.03125	-	-	-	Autism	COSMIC,ICGC,
chr3	94869829	94869829	G	A	intergenic	LINC00879,MTHFD2P1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr6	126927270	126927270	T	A	intergenic	NONE,RSPO3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21194085	-	BRCA-EU|1|569|0.00176	-	-	-,mortality/aging	-,-	COSMIC,ICGC,
chr8	136269424	136269424	C	T	ncRNA_intronic	LOC286094	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr10	8297082	8297082	G	A	intergenic	GATA3,LINC00708	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype,-	Sensorineural hearing loss, facial dysmorphism & delayed psychomotor development|Hypoparathyroidism, deafness and renal dysplasia|Hypoparathyroidism and deafness|Acute lymphoblastic leukaemia, association with ,-	ICGC,
chr2	70251649	70251649	T	G	ncRNA_intronic	PCBP1-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr1	53370417	53370417	G	A	exonic	ECHDC2	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM4680070	-	-	-	-	-	-	COSMIC,COSMIC,
chr2	179064318	179064318	T	A	intronic	OSBPL6	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23228760	-	MALY-DE|1|241|0.00415	-	-	-	-	COSMIC,ICGC,
chr7	70917530	70917530	-	A	intronic	WBSCR17	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-	-	ICGC,
chr17	15128420	15128420	G	T	intergenic	CDRT8,PMP22	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16644237	-	PACA-CA|1|268|0.00373	-	-	-,mortality/aging	-,Roussy-Levy syndrome|Neuropathy, liability to pressure palsies|Hereditary motor & sensory neuropathy|Dejerine-Sottas syndrome.|Dejerine-Sottas syndrome with gastroesophageal reflux syndrome|Dejerine-Sottas syndrome|Charcot-Marie-Tooth type 1 with transient deficits|Charcot-Marie-Tooth disease with slow nerve conduction velocity|Charcot-Marie-Tooth disease with deafness|Charcot-Marie-Tooth disease 1e.|Charcot-Marie-Tooth disease 1E with Dandy-Walker malformation|Charcot-Marie-Tooth disease 1e|Charcot-Marie-Tooth disease 1a|Charcot-Marie-Tooth disease 1|Charcot-Marie-Tooth disease|Axonal neuropathy	COSMIC,ICGC,
chr7	1505176	1505176	G	A	intergenic	MICALL2,INTS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,mortality/aging	-,Schizophrenia  |Potential protein deficiency	ICGC,
chrX	65635555	65635555	G	A	intergenic	HEPH,EDA2R	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9094006	-	OV-AU|1|93|0.01075	-	-	hematopoietic system phenotype,normal phenotype	-,Hypohidrotic ectodermal dysplasia|Mental retardation, X-linked 	COSMIC,ICGC,
chr4	34956016	34956016	-	AT	intergenic	NONE,ARAP2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr6	100723736	100723736	-	CAGTAAGT	intergenic	MCHR2-AS1,SIM1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,mortality/aging	-,Reduced transcriptional activity|Obesity, profound|Obesity, early onset  |Obesity with Prader-Willi syndrome|Obesity	ICGC,
chrX	99529715	99529715	G	A	intergenic	XRCC6P5,PCDH19	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Tonic seizures|Seizures|Generalized tonic-clonic seizures|Focal seizures with secondary generalization|Focal epilepsy|Epileptic encephalopathy|Epilepsy, early-onset|Epilepsy and mental retardation limited to females|Epilepsy & mental retardation|Dravet syndrome  |Asperger syndrome	ICGC,
chr5	117400519	117400519	A	G	ncRNA_intronic	LOC102467224	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr17	2335147	2335147	G	A	intronic	METTL16	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr8	33609061	33609061	G	T	intergenic	DUSP26,UNC5D	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25993597	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr3	118487590	118487590	T	G	intergenic	LINC00901,IGSF11	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16163712	-	PRAD-CA|1|308|0.00325	-	-	-,-	-,-	COSMIC,ICGC,
chr18	7221849	7221849	T	C	intergenic	LAMA1,LRRC30	unknown	SNV	-	-	-	0.6589	rs2007815	-	0.4998	-	0.551	-	-	ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488	-	-	mortality/aging,-	High myopia, increased risk, association with|Intellectual disability  |Pancreatic cancer ,-	ICGC,
chr1	105392149	105392149	G	A	intergenic	LOC100129138,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr15	20616953	20616953	-	T	ncRNA_intronic	HERC2P3	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN14673387	-	-	-	-	-	-	COSMIC,
chr13	87813519	87813519	C	T	intergenic	SLITRK6,MIR4500HG	unknown	SNV	-	-	-	3.231e-05	rs543128422	-	0.000998403	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,-	High myopia and sensorineural deafness,-	ICGC,
chr13	78393215	78393215	C	A	ncRNA_intronic	EDNRB-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr10	2100115	2100115	G	A	intergenic	LINC00700,MIR6072	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr6	122920511	122920511	C	T	intronic	PKIB	unknown	SNV	-	-	-	3.228e-05	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	normal phenotype	-	ICGC,
chr19	37214703	37214703	G	A	intergenic	ZNF567,ZNF850	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr18	38541690	38541690	C	T	intergenic	LOC101927900,KC6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,-	-,-	ICGC,
chr7	157882736	157882736	A	G	intronic	PTPRN2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	homeostasis/metabolism phenotype	-	ICGC,
chr5	122101507	122101507	-	ACAG	intergenic	LOC101927379,SNX2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,mortality/aging	-,-	ICGC,
chr1	99870726	99870726	C	T	intergenic	LPPR4,PALMD	unknown	SNV	-	-	-	9.961e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	-,-	ICGC,
chr2	138956917	138956917	A	C	intergenic	HNMT,SPOPL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	Urticaria, chronic, aspirin intolerant, reduced risk, association with|Parkinson disease, association with|Non-atopic dermatitis, association with|Lower HNMT level, association with|Essential tremor, association with|Atopic dermatitis, reduced risk|Atopic dermatitis, association with|Asthma, association with,-	ICGC,
chrX	141661394	141661394	G	A	intergenic	MAGEC2,SPANXN4	unknown	SNV	-	-	-	0.0001	rs749469395	-	-	-	-	COSN2346212	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr5	12069837	12069837	G	A	intergenic	CTNND2,LINC01194	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,-	Schizophrenia  |Lennox-Gastaut syndrome |Autism spectrum disorder|Anorectal malformation|Altered localisation,-	ICGC,
chr22	34854624	34854624	C	A	intergenic	LARGE,ISX	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16106410	-	PACA-CA|1|268|0.00373	-	-	mortality/aging,no phenotypic analysis	Alpha-dystroglycanopathy |Autism, non-complex|Fukushima congenital muscular dystrophy|Muscular dystrophy, congenital 1D|Walker-Warburg syndrome|Walker-Warburg syndrome.,-	COSMIC,ICGC,
chr2	171155838	171155838	T	G	intronic	MYO3B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	OV-AU|1|93|0.01075	-	-	-	-	ICGC,
chr2	105597833	105597833	C	A	ncRNA_intronic	LOC102724691	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-	-	ICGC,
chr1	196313690	196313690	C	T	intronic	KCNT2	unknown	SNV	-	-	-	-	rs574933477	-	0.000199681	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr12	71102467	71102467	C	T	intronic	PTPRR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	-	ICGC,
chr6	126883315	126883315	C	T	intergenic	NONE,RSPO3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,-	ICGC,
chr2	228069173	228069173	C	T	intronic	COL4A3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-UK|1|141|0.00709	-	-	mortality/aging	Thin basement membrane nephropathy.|Potential protein deficiency|Nephritis.|Microhaematuria and proteinuria|Haematuria|Focal segmental glomerulosclerosis|Deafness  |Chronic obstructive pulmonary disease, association with|Benign haematuria|Alport syndrome.|Alport syndrome	ICGC,
chr1	166353112	166353112	C	T	intergenic	FAM78B,FMO9P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,-	-,-	ICGC,
chr4	79309521	79309521	A	T	intronic	FRAS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6844310	-	LIRI-JP|1|258|0.00388	-	-	integument phenotype	Renal agenesis |Fraser syndrome/Ablepharon macrostomia syndrome|Fraser syndrome	COSMIC,ICGC,
chr2	228771831	228771831	G	T	intronic	DAW1	unknown	SNV	-	-	0.0117	0.0152	rs201191187	0.0026	-	-	-	COSN19665652	-	COCA-CN|1|321|0.00312,ESCA-CN|1|332|0.00301,BTCA-JP|1|239|0.00418	-	-	-	-	COSMIC,COSMIC,COSMIC,ICGC,
chr6	124517576	124517576	A	C	intronic	NKAIN2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5810469	-	EOPC-DE|1|202|0.00495	-	-	-	Developmental delay and recurrent infection|Various neurological abnormalities	COSMIC,ICGC,
chr15	24923060	24923060	G	A	exonic	NPAP1	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM3886785	SKCM|2|368|0.00543	SKCM-US|1|335|0.00299	-	-	-	-	COSMIC,TCGA,ICGC,
chr10	107384963	107384963	C	T	intergenic	SORCS3,LOC101927549	unknown	SNV	-	-	-	0.0023	rs192504689	-	0.00159744	-	-	-	-	UTCA-FR|1|20|0.05000	-	-	-,-	-,-	ICGC,
chr21	29696841	29696841	-	CCACAC	intergenic	LINC00314,LINC00161	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr13	63160103	63160103	T	G	intergenic	LINC00358,LINC00448	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr7	64776731	64776731	G	T	ncRNA_intronic	LOC441242	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22740239	-	BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr3	17457246	17457246	G	T	intronic	TBC1D5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	EOPC-DE|1|202|0.00495	-	-	-	-	ICGC,
chr18	39018901	39018901	G	A	intergenic	LOC101927900,KC6	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20998938	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr2	126601079	126601079	C	T	intergenic	CNTNAP5,GYPC	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22340779	-	BRCA-EU|1|569|0.00176	-	-	-,-	Autism,Glycophorin C variant|Gerbich-negative blood group|Elliptocytosis|Duch blood group	COSMIC,ICGC,
chr11	63681956	63681956	G	A	exonic	RCOR2	nonsynonymous	SNV	0.0	1.0	-	-	-	-	-	-	-	COSM6764546	-	-	-	-	cellular phenotype	-	COSMIC,
chr5	156841893	156841893	-	A	intergenic	CYFIP2,NIPAL4	unknown	insertion	-	-	-	3.31e-05	-	-	-	-	-	-	-	OV-AU|1|93|0.01075	-	-	mortality/aging,-	Potential protein deficiency,Ichthyosis, autosomal recessive|Ichthyosis, harlequin	ICGC,
chr8	143987597	143987597	A	C	intergenic	CYP11B1,CYP11B2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17793998	-	ESAD-UK|1|301|0.00332	-	-	hematopoietic system phenotype,mortality/aging	Steroid-11 beta-hydroxylase deficiency, non-classic|Steroid-11 beta-hydroxylase deficiency|Reduced expression|Hypoaldosteronism|Decreased transcription|Altered enzyme function|Adrenal hyperplasia|,Increased 18-hydroxycortisol production|Increased fasting glucose levels, association with|Ischaemic stroke, association with.|Low renin hypertension, association with|Normotensive pregnancy, association with|Primary hypoaldosteronism and moderate bilateral deafness|Raised aldosterone to renin ratio, association|Hypoaldosteronism, primary selective|Hypoaldosteronism|Hypertensive pregnancy, association with|Aldosterone synthase deficiency|Aldosterone synthase deficiency, type 1|Aldosterone synthase deficiency, type 2|Altered steroid production|Corticosterone methyl oxidase deficiency|Higher systolic blood pressure, association with|Hypertension & stroke, increased risk 	COSMIC,ICGC,
chr9	95007304	95007304	G	T	exonic	IARS	synonymous	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	Potential protein deficiency	ICGC,
chr6	118320731	118320731	-	AA	intronic	SLC35F1	unknown	insertion	-	-	-	0.5756	rs141032945	-	0.523762	-	-	COSN27474954	-	-	-	-	-	-	COSMIC,
chr11	10358188	10358188	T	C	ncRNA_intronic	CAND1.11	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5891871	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr2	166401443	166401443	G	C	intronic	CSRNP3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging	-	ICGC,
chr13	86157294	86157294	G	A	intergenic	LINC00351,SLITRK6	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1631391	-	LIRI-JP|1|258|0.00388	-	-	-,behavior/neurological phenotype	-,High myopia and sensorineural deafness	COSMIC,ICGC,
chr8	34532134	34532134	C	A	intergenic	DUSP26,UNC5D	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5235026	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr4	32477715	32477715	G	A	intergenic	PCDH7,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9037398	-	OV-AU|1|93|0.01075	-	-	-,-	-,-	COSMIC,ICGC,
chr9	71477740	71477740	-	AA	intronic	PIP5K1B	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	hematopoietic system phenotype	-	ICGC,
chr20	17392432	17392432	G	A	intronic	PCSK2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Diabetes, type 2, association with	ICGC,
chr2	208572841	208572841	G	A	intergenic	METTL21A,CCNYL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,-	ICGC,
chr8	84934178	84934178	A	G	intergenic	LINC01419,RALYL	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2294187	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr7	41823006	41823006	G	A	intergenic	INHBA-AS1,GLI3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	UTCA-FR|1|20|0.05000	-	-	-,integument phenotype	-,Postaxial polydactyly A/B|Postaxial polydactyly B|Preaxial polydactyly|Preaxial polydactyly IV|Preaxial polydactyly IV.|Schizophrenia|Sub-Greig cephalopolysyndactyly syndrome|Sub-Pallister-Hall syndrome|Talipes equinovarus, congential idiopathic, association with |Tooth agenesis, association with|Postaxial polydactyly A |Pallister-Hall syndrome with genital abnormalities|Acrocallosal syndrome|Broad thumbs, postaxial polydactyly & variable syndactyly of hands/feet|Digital anomalies|Greig cephalopolysyndactyly syndrome|Greig cephalopolysyndactyly syndrome & cerebral cavernous malformations|Greig cephalopolysyndactyly syndrome with MODY2|Hypodontia, non-syndromic, association with.|Metopic craniosynostosis|Oral-facial-digital syndrome|Pallister-Hall syndrome	ICGC,
chr11	9333751	9333751	C	T	intronic	TMEM41B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr15	39652598	39652598	A	-	intergenic	C15orf54,THBS1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Small for gestational age, increased risk, association with|Pulmonary hypertension|Heart attack, association with|Coronary artery disease, association with	ICGC,
chr5	15983089	15983089	G	A	intergenic	FBXL7,MARCH11	unknown	SNV	-	-	-	0.0347	rs114845341	-	0.0177716	-	0.007	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr3	162693190	162693190	A	C	intergenic	OTOL1,LINC01192	unknown	SNV	-	-	-	0.4351	rs2114021	-	0.461661	-	0.478	-	-	ESAD-UK|2|301|0.00664	-	-	-,-	-,-	ICGC,
chr8	59926636	59926636	G	A	intronic	TOX	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype	Pulmonary tuberculosis, association  with	ICGC,
chr6	27298657	27298657	G	C	intergenic	VN1R10P,ZNF204P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr16	16606502	16606502	G	T	intergenic	NPIPA7,XYLT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	-,Decreased serum glycosaminoglycan levels, association with|Desbuquois dysplasia type 2|Diabetes, type 1, protection, association |Diabetic nephropathy protection |Increased serum XT1 activity in pseudoxanthoma elasticum, association|Short stature & intellectual disability	ICGC,
chr19	22071102	22071102	G	T	intergenic	ZNF43,ZNF208	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17895524	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	COSMIC,ICGC,
chr4	81772750	81772750	G	A	intronic	C4orf22	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr1	113379145	113379145	C	T	ncRNA_intronic	LINC01356	unknown	SNV	-	-	-	-	rs769793242	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-	-	ICGC,
chr5	136396622	136396622	G	A	intronic	SPOCK1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	normal phenotype	Developmental delay & microcephaly	ICGC,
chr14	81526758	81526758	A	G	intronic	TSHR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging	Hypothyroidism, association with|Hypothyroidism.|Insulin resistance, association with|Subclinical hypothyroidism|Thyroid hyperplasia|Thyroid hypoplasia|Thyroid hypoplasia.|Thyroid-stimulating hormone resistance|Thyroid-stimulating hormone resistance, nonclassic|Thyrotoxicosis|Toxic multinodular goitre, association with|Hypothyroidism|Hyperthyrotropinemia|Hyperthyrotropinaemia, nonautoimmune isolated |Athyreosis.|Graves' ophthalmopathy|Graves’ disease and Hashimoto’s disease, association with.|Hyperfunctioning thyroid nodules|Hyperthyroidism|Hyperthyroidism, autoimmune, association with |Hyperthyroidism, gestational|Hyperthyroidism, nonautoimmune|Hyperthyroidism, nongoitrous & nonautoimmune|Hyperthyrotropinaemia  |Hyperthyrotropinaemia, in infants, association with.	ICGC,
chr6	48738781	48738781	T	G	intergenic	PTCHD4,MUT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,mortality/aging	-,Methylmalonic aciduria	ICGC,
chr2	116551460	116551460	A	G	intronic	DPP10	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2466933	-	-	-	-	-	Autism spectrum disorder	COSMIC,
chr13	65575470	65575470	T	C	intergenic	OR7E156P,PCDH9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr17	72672812	72672812	C	T	intronic	RAB37	unknown	SNV	-	-	-	6.456e-05	-	-	-	-	-	COSN8675937	-	ESAD-UK|1|301|0.00332,EOPC-DE|1|202|0.00495	-	-	-	-	COSMIC,ICGC,
chr4	148795185	148795187	AAC	-	intronic	ARHGAP10	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	-	-	ICGC,
chr2	122708303	122708303	G	C	intergenic	TSN,CNTNAP5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	hematopoietic system phenotype,-	-,Autism	ICGC,
chr7	125937050	125937050	C	T	intergenic	LOC101928283,GRM8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,behavior/neurological phenotype	-,Attention deficit hyperactivity disorder|Autism spectrum disorder  	ICGC,
chr13	102107111	102107111	C	T	intronic	ITGBL1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20621963	-	BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr5	5277618	5277618	C	A	intronic	ADAMTS16	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7946629	-	PACA-AU|1|391|0.00256	-	-	-	Increased systolic blood pressure, association with	COSMIC,ICGC,
chr3	23304833	23304833	G	A	intronic	UBE2E2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr1	91224804	91224804	G	A	intergenic	BARHL2,ZNF644	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	mortality/aging,-	-,High myopia |Myopia	ICGC,
chr4	138876742	138876742	C	A	intergenic	PCDH18,LINC00616	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	Intellectual disability  ,-	ICGC,
chr18	10827758	10827758	A	T	intronic	PIEZO2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19239797	-	CLLE-ES|1|510|0.00196	-	-	-	Marden-Walker syndrome|Lung cancer, susceptibility to in never smokers, association with |Gordon syndrome / arthrogryposis, distal, type 5|Gordon syndrome|Arthrogryposis, distal, type 5	COSMIC,ICGC,
chr16	8089442	8089442	T	C	intergenic	RBFOX1,TMEM114	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,-	Muscular and feet abnormalities|Mental retardation|Epilepsy, rolandic  |Epilepsy|Developmental delay, facial dysmorphism  |Developmental delay and transposition of the great arteries|Developmental delay and diplegia|Developmental delay and craniosynostosis|Developmental delay  |Cardiac defects|Cardiac abnormalities, micrognathia and scoliosis|Autism spectrum disorder|Autism|Attention deficit hyperactivity disorder ,Developmental delay|Cataract, congenital	ICGC,
chr11	57693701	57693701	A	G	intergenic	TMX2-CTNND1,OR9Q1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16663749	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	COSMIC,ICGC,
chr15	81097007	81097007	T	C	intronic	CEMIP	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5401423	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr9	24537254	24537254	C	T	intergenic	ELAVL2,IZUMO3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Schizophrenia, association with  ,-	ICGC,
chr15	21349666	21349666	C	T	intergenic	LINC01193,LOC646214	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr3	19861810	19861810	C	T	intergenic	KCNH8,EFHB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr4	95831665	95831665	G	A	intronic	BMPR1B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7849136	-	PACA-AU|1|391|0.00256	-	-	mortality/aging	Pulmonary arterial hypertension|Prostate cancer, localised, association with|Breast cancer, increased risk, association with|Brachydactyly type A2|Acromesomelic chondrodysplasia, genital anomalies	COSMIC,ICGC,
chr14	47504448	47504448	T	C	exonic	MDGA2	nonsynonymous	SNV	0.133	0.767	-	-	-	-	-	-	-	COSM698507	LUSC|1|178|0.00562	LUSC-US|1|194|0.00515	-	-	skeleton phenotype	-	COSMIC,COSMIC,COSMIC,TCGA,ICGC,
chr5	152135693	152135693	C	T	ncRNA_intronic	LOC101927134	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr1	225000679	225000679	T	C	intergenic	CNIH3,DNAH14	unknown	SNV	-	-	-	0.0407	rs77103508	-	0.0257588	-	0.014	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,Potential protein deficiency	ICGC,
chr7	49516348	49516348	C	A	intergenic	CDC14C,VWC2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	ICGC,
chr18	27060210	27060210	A	G	intergenic	CDH2,MIR302F	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16445105	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging,-	Reduced expression|Potential protein deficiency|Alzheimer disease  ,-	COSMIC,ICGC,
chr16	50410957	50410957	T	-	intergenic	BRD7,NKD1	unknown	deletion	-	-	-	-	-	-	-	-	-	COSN27884209	-	ESAD-UK|1|301|0.00332,MALY-DE|2|241|0.00830	-	-	integument phenotype,skeleton phenotype	-,-	COSMIC,COSMIC,ICGC,
chr3	95903025	95903025	C	T	intergenic	MTHFD2P1,MIR8060	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr3	160025173	160025173	G	A	intronic	IFT80	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging	Short rib-polydactyly syndrome, type 3|Potential protein deficiency|Asphyxiating thoracic dystrophy 2	ICGC,
chr8	18902877	18902877	G	A	intergenic	PSD3,LOC100128993	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr6	108794697	108794697	A	G	intronic	LACE1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5617414	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr2	84366363	84366363	G	A	intergenic	LOC1720,FUNDC2P2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN14486040	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	COSMIC,ICGC,
chr9	111745538	111745538	C	G	exonic	CTNNAL1	nonsynonymous	SNV	0.602	0.0	-	-	-	-	-	-	-	-	HNSC|1|512|0.00195	-	-	-	-	-	TCGA,
chrX	70150123	70150123	G	T	intronic	SLC7A3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-	-	ICGC,
chr6	108811289	108811289	C	T	intronic	LACE1	unknown	SNV	-	-	-	6.457e-05	-	-	-	-	-	COSN20437012	-	COCA-CN|1|321|0.00312	-	-	-	-	COSMIC,ICGC,
chr2	39126042	39126042	C	T	intergenic	MORN2,ARHGEF33	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr22	23227740	23227740	A	T	intergenic	MIR650,IGLL5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|2|241|0.00830	-	-	-,-	-,-	ICGC,
chr13	86995466	86995466	A	T	intergenic	SLITRK6,MIR4500HG	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19256819	-	CLLE-ES|1|510|0.00196	-	-	behavior/neurological phenotype,-	High myopia and sensorineural deafness,-	COSMIC,ICGC,
chr2	158471905	158471905	G	C	intronic	ACVR1C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging	Glaucoma, primary congenital	ICGC,
chr13	82944483	82944483	A	G	intergenic	SPRY2,SLITRK1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17690533	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,mortality/aging	Cleft lip ,Trichotillomania|Tourette syndrome|Obsessive-compulsive disorder |Attention deficit hyperactivity disorder 	COSMIC,ICGC,
chr12	76506369	76506369	G	A	intergenic	NAP1L1,BBS10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,Bardet-Biedl syndrome |Null allele	ICGC,
chr12	20016129	20016129	C	T	intergenic	AEBP2,LOC100506393	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	-,-	ICGC,
chr11	83282175	83282175	T	G	intronic	DLG2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype	Schizophrenia and epilepsy|Myopathy  |Intellectual disability, autism and epilepsy|Hypochondriasis|Dysmorphic features & speech delay|Developmental delay and dysmorphic features|Developmental delay  	ICGC,
chr6	74179395	74179395	A	G	intronic	MTO1	unknown	SNV	-	-	-	0.2047	rs7453831	-	0.207468	-	0.152	-	-	ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488	-	-	-	Hypertrophic cardiomyopathy & lactic acidosis|Hypertrophic cardiomyopathy, lactic acidosis and respiratory chain deficiency	ICGC,
chr13	72789625	72789625	A	C	intergenic	DACH1,MZT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	Renal hypodysplasia,-	ICGC,
chr8	60124748	60124748	A	T	intergenic	TOX,CA8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PEME-CA|1|112|0.00893	-	-	hematopoietic system phenotype,behavior/neurological phenotype	Pulmonary tuberculosis, association  with,Ataxia, cerebellar hypoplasia|Cerebellar ataxia and quadrupedal locomotion|Cerebellar ataxia, mental retardation & dysequilibrium syndrome 3	ICGC,
chr4	94615721	94615721	T	G	intronic	GRID2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging	Cerebellar ataxia & tonic upgaze|Cerebellar ataxia and atrophy|Schizophrenia|Spastic paraplegia, complicated	ICGC,
chr8	12881583	12881583	C	T	UTR3	KIAA1456	unknown	SNV	-	-	-	4.114e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr15	97046090	97046090	C	T	intergenic	NR2F2,SPATA8-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Whole body insulin sensitivity, association with|Hypoplastic left heart syndrome|Cardiac abnormalities|Atrioventricular septum defects,-	ICGC,
chr10	73266221	73266221	T	G	intronic	CDH23	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	integument phenotype	Usher syndrome 2|Usher syndrome 1d|Usher syndrome 1, modifier of|Usher syndrome 1|Usher syndrome  |Sensorineural hearing loss, nonsyndromic|Retinitis pigmentosa, autosomal recessive ?|Non-syndromic autosomal recessive deafness|Hearing loss, nonsyndromic|Hearing loss, non-syndromic|Deafness, nonsyndromic  |Deafness, non-syndromic |Deafness, autosomal recessive 12 |Deafness  	ICGC,
chr6	50400556	50400563	CCTGTAGT	-	intergenic	DEFB112,TFAP2D	unknown	deletion	-	-	-	-	-	-	-	-	-	COSN22885273	-	BRCA-EU|1|569|0.00176	-	-	-,cellular phenotype	-,Schizophrenia	COSMIC,ICGC,
chr21	42112690	42112690	G	A	intronic	DSCAM	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Bipolar disorder, association with 	ICGC,
chr3	68487784	68487784	C	A	intronic	FAM19A1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1958637	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr12	128671458	128671458	T	C	intergenic	LOC101927694,TMEM132C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr4	80847395	80847395	G	A	intronic	ANTXR2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Hyaline fibromatosis syndrome|Fibromatosis, hyaline & hyalinosis, systemic|Anthrax toxin sensitivity, association with	ICGC,
chr2	190175061	190175061	C	T	intergenic	COL5A2,WDR75	unknown	SNV	-	-	-	0.0332	rs114872263	-	0.0357428	-	0.007	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,-	Spontaneous cervical artery dissections|Ehlers-Danlos syndrome II|Ehlers-Danlos syndrome I|Ehlers-Danlos syndrome|Cervical artery dissection, increased risk ,-	ICGC,
chr1	235624979	235624979	C	T	intronic	B3GALNT2	unknown	SNV	-	-	-	3.243e-05	rs547045794	-	0.000199681	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	Muscular dystrophy with brain malformations|Dystroglycanopathy	ICGC,
chr2	33787987	33787987	-	ATG	UTR3	RASGRP3	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN15665175	-	GACA-JP|2|585|0.00342	-	-	hematopoietic system phenotype	Systemic lupus erythematosus, association with	COSMIC,COSMIC,ICGC,
chr4	7922686	7922686	A	C	intronic	AFAP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr19	22518308	22518308	G	A	intergenic	ZNF729,ZNF98	unknown	SNV	-	-	-	-	rs527757676	-	0.000199681	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr1	192302085	192302085	A	T	intronic	RGS21	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr8	106755992	106755992	T	G	intronic	ZFPM2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9250792	-	RECA-EU|1|422|0.00237	-	-	integument phenotype	Atrial septal defect & gonadal dysgenesis|Diaphragmatic hernia, congenital|Double outlet right ventricle |Gonadal dysgenesis |Reduced activity|Tetralogy of Fallot 	COSMIC,ICGC,
chrX	86704862	86704862	T	C	intergenic	DACH2,KLHL4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	normal phenotype,-	-,-	ICGC,
chr2	183396603	183396603	G	A	intergenic	PDE1A,DNAJC10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,reproductive system phenotype	Cardiovascular malformations,-	ICGC,
chr18	19551486	19551486	G	A	intergenic	MIB1,GATA6-AS1	unknown	SNV	-	-	-	0.0003	rs548776853	-	0.000199681	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype,-	Cardiomyopathy, left ventricular noncompaction|Intellectual disability  ,-	ICGC,
chr7	6426752	6426752	T	-	intronic	RAC1	unknown	deletion	-	-	-	-	-	-	-	-	-	COSN1352334	-	-	-	-	integument phenotype	Azathioprine haematotoxicity in TPMT carriers, association with|Radial ray defect|Reduced promoter activity|Ulcerative colitis, increased risk, association with	COSMIC,
chr20	9292256	9292256	A	G	intronic	PLCB4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging	Auriculocondylar syndrome	ICGC,
chr2	135078920	135078920	T	C	intronic	MGAT5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	immune system phenotype	-	ICGC,
chr7	29866132	29866132	G	A	intronic	WIPF3	unknown	SNV	-	-	-	0.5786	rs6957373	-	0.548722	-	0.536	-	-	ESAD-UK|1|301|0.00332	-	-	reproductive system phenotype	-	ICGC,
chr7	51128300	51128300	G	A	intronic	COBL	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN18855153	-	-	-	-	nervous system phenotype	-	COSMIC,
chr5	11583903	11583903	G	A	intronic	CTNND2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	Schizophrenia  |Lennox-Gastaut syndrome |Autism spectrum disorder|Anorectal malformation|Altered localisation	ICGC,
chr6	48379097	48379097	A	G	intergenic	PTCHD4,MUT	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26672232	-	LICA-CN|1|402|0.00249	-	-	-,mortality/aging	-,Methylmalonic aciduria	COSMIC,ICGC,
chr1	198928429	198928429	A	C	intergenic	MIR181A1HG,LINC01222	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	-,-	ICGC,
chr3	85984922	85984922	C	T	exonic	CADM2	nonsynonymous	SNV	0.001	0.985	-	-	-	-	-	-	-	COSM3597771	SKCM|1|368|0.00272	SKCM-US|1|335|0.00299	-	-	-	-	COSMIC,COSMIC,TCGA,ICGC,
chr7	110408529	110408529	C	T	intronic	IMMP2L	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	reproductive system phenotype	Gilles de la Tourette syndrome|Autism	ICGC,
chr10	91706971	91706971	G	A	ncRNA_intronic	LINC01375	unknown	SNV	-	-	-	-	rs189537071	-	0.000199681	-	-	-	-	MELA-AU|1|183|0.00546,MALY-DE|1|241|0.00415	-	-	-	-	ICGC,
chr1	60789086	60789086	CC	TT	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chrX	75916572	75916572	G	A	ncRNA_intronic	LOC101928469	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr5	39703121	39703121	C	T	intergenic	LOC101926940,LINC00603	unknown	SNV	-	-	-	0.1499	rs7716130	-	0.143171	-	0.138	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr17	60802552	60802552	G	A	ncRNA_intronic	MIR548W	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr16	32439354	32439354	C	T	intergenic	LOC390705,TP53TG3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	ICGC,
chr3	146745045	146745045	C	T	intergenic	PLSCR5,ZIC4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,mortality/aging	-,-	ICGC,
chr16	87790034	87790034	A	G	exonic	KLHDC4	nonsynonymous	SNV	0.09	0.88	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr4	181995676	181995676	G	T	ncRNA_intronic	LINC00290	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-	-	ICGC,
chr1	33133907	33133907	G	T	exonic	RBBP4	nonsynonymous	SNV	0.0	0.714	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr14	29366083	29366083	A	-	intergenic	C14orf23,MIR548AI	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr13	112607588	112607588	G	T	intergenic	LINC00354,LINC00403	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr5	71238932	71238932	G	A	intergenic	CARTPT,MAP1B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype,integument phenotype	Obesity, association with |Obesity, severe,-	ICGC,
chr19	44915019	44915019	C	T	intergenic	ZNF285,ZNF229	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr14	37284785	37284785	G	A	intronic	SLC25A21	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	hematopoietic system phenotype	Synpolydactyly	ICGC,
chr4	36631669	36631669	G	A	intergenic	DTHD1,MIR4801	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|3|183|0.01639	-	-	-,-	Leber congenital amaurosis with myopathy,-	ICGC,
chr5	139177747	139177747	C	A	intronic	PSD2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9408137	-	OV-AU|1|93|0.01075	-	-	-	-	COSMIC,ICGC,
chr20	19915634	19915634	A	-	intronic	RIN2	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	GACA-JP|1|585|0.00171	-	-	-	RIN2 syndrome|Macrocephaly, alopecia, cutis laxa & scoliosis	ICGC,
chr2	153269321	153269321	A	-	intronic	FMNL2	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|3|321|0.00935,LIRI-JP|1|258|0.00388,MALY-DE|2|241|0.00830	-	-	-	-	ICGC,
chr3	89162423	89162423	G	A	intronic	EPHA3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20701834	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging	Oligozoospermia|Schizophrenia    |Sertoli-cell-only syndrome	COSMIC,ICGC,
chr14	42882468	42882468	C	T	intergenic	LRFN5,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CN|1|65|0.01538	-	-	-,-	Short stature|Developmental delay, seizures & learning problems ,-	ICGC,
chr5	108349470	108349470	-	C	intronic	FER	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN22777300	-	-	-	-	normal phenotype	-	COSMIC,
chr3	153264429	153264429	G	C	intergenic	C3orf79,ARHGEF26-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16854354	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	COSMIC,ICGC,
chr4	5071645	5071645	T	C	intronic	STK32B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8377095	-	MALY-DE|1|241|0.00415	-	-	-	-	COSMIC,ICGC,
chr7	100908541	100908541	C	A	intergenic	FIS1,LOC101927746	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9817185	-	OV-AU|1|93|0.01075	-	-	-,-	-,-	COSMIC,ICGC,
chr6	9702194	9702194	C	T	intergenic	LOC100506207,TFAP2A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15328367	-	PRAD-UK|1|140|0.00714	-	-	-,integument phenotype	-,Schizophrenia, episodic, association |Orofacial clefting |Developmental delay/intellectual disability and nasolacrimal duct obstruction|Cisplatin resistance|Branchio-oculo-facial syndrome with thyroglossal duct cyst|Branchio-oculo-facial syndrome	COSMIC,ICGC,
chr3	171387651	171387651	A	G	intronic	PLD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-	-	ICGC,
chr2	40157087	40157087	G	A	ncRNA_intronic	SLC8A1-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr5	141588279	141588279	C	T	intergenic	NDFIP1,SPRY4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,mortality/aging	-,Hypogonadotropic hypogonadism, idiopathic|Kallmann syndrome	ICGC,
chr12	18277903	18277903	G	A	intergenic	RERGL,PIK3C2G	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Colorectal cancer ,Diabetes, type 2, association with	ICGC,
chr9	4286007	4286007	T	-	intronic	GLIS3	unknown	deletion	-	-	-	-	-	-	-	-	-	-	ESCA|1|185|0.00541	-	-	-	mortality/aging	Diabetes, permanent neonatal|Diabetes, type 1, resistance to|Neonatal diabetes & congenital hypothyroidism|Neural tube defects	TCGA,
chr8	87910675	87910675	A	C	intronic	CNBD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr9	120095874	120095874	A	T	intronic	ASTN2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Autism spectrum disorder |Intellectual disability  |Schizophrenia  	ICGC,
chr5	166943106	166943106	G	A	intronic	TENM2	unknown	SNV	-	-	-	0.0001	rs189503108	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr5	24333346	24333346	T	A	intergenic	PRDM9,CDH10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	reproductive system phenotype,-	Altered meiotic recombination hotspot usage|Azoospermia by meiotic arrest, association with |Azoospermia, non-obstructive ,-	ICGC,
chr1	62806774	62806774	G	T	intergenic	KANK4,USP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,mortality/aging	-,-	ICGC,
chr1	160860959	160860959	C	T	intergenic	ITLN1,LOC101928372	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	normal phenotype,-	-,-	ICGC,
chr16	4763863	4763863	A	G	intronic	ANKS3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1187148	-	-	-	-	-	Autism spectrum disorder	COSMIC,
chr2	193453093	193453093	G	A	intergenic	TMEFF2,PCGEM1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,-	-,-	ICGC,
chr13	54754568	54754568	G	A	intergenic	LINC00458,MIR1297	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr12	39881825	39881825	A	G	intergenic	KIF21A,ABCD2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25018275	-	LICA-FR|1|252|0.00397	-	-	-,hematopoietic system phenotype	CFEOM1 & Marcus Gunn jaw-winking syndrome|Congenital fibrosis of the extraocular muscles 1|Congenital fibrosis of the extraocular muscles 1 & Möbius syndrome,-	COSMIC,ICGC,
chr10	65642287	65642288	CT	-	intergenic	REEP3,ANXA2P3	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr8	97210415	97210415	T	G	intergenic	GDF6,UQCRB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	mortality/aging,-	Ocular & skeletal abnormalities|Leri's pleonosteosis|Leber congenital amaurosis.|Leber congenital amaurosis|Klippel-Feil syndrome|Chiari type I malformation?|Anophthalmia, bilateral ,Complex III deficiency	ICGC,
chr8	128719244	128719244	C	A	ncRNA_intronic	CASC11	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr1	239441783	239441783	G	A	intergenic	LINC01139,CHRM3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,vision/eye phenotype	-,Autistic disorder|Bladder malformation|Diabetes, type 2, increased risk, association |Tetralogy of Fallot	ICGC,
chrY	9944146	9944146	C	A	intergenic	TTTY23B,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19713014	-	COCA-CN|1|321|0.00312	-	-	-,-	-,-	COSMIC,ICGC,
chr2	114777407	114777407	C	T	intergenic	LINC01191,DPP10	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19382041	-	-	-	-	-,-	-,Autism spectrum disorder	COSMIC,
chr5	61516942	61516942	A	G	intergenic	LOC100506526,KIF2A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26826606	-	PRAD-FR|1|25|0.04000	-	-	-,mortality/aging	-,Malformation of cortical development	COSMIC,ICGC,
chr9	24366460	24366460	T	C	intergenic	ELAVL2,IZUMO3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	Schizophrenia, association with  ,-	ICGC,
chr4	77438772	77438772	-	TTATAT	intronic	SHROOM3	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	mortality/aging	Heterotaxy |Leukemia, risk, association with 	ICGC,
chr1	52540883	52540883	A	G	intronic	BTF3L4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16345929	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr11	93030534	93030534	T	A	intergenic	SLC36A4,CCDC67	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr10	31217695	31217695	A	T	intronic	ZNF438	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN10065951	-	RECA-EU|1|422|0.00237	-	-	-	-	COSMIC,ICGC,
chr6	43088801	43088801	T	G	intronic	PTK7	unknown	SNV	-	-	-	3.524e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Autism	ICGC,
chr19	56160355	56160355	C	T	intronic	CCDC106	unknown	SNV	-	-	-	3.232e-05	-	-	-	-	-	COSN26969376	-	-	-	-	-	-	COSMIC,
chr11	95420387	95420387	C	T	intergenic	LOC100129203,FAM76B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr1	34739098	34739098	T	A	intergenic	C1orf94,GJB5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,-	ICGC,
chr10	134659105	134659105	C	T	intronic	TTC40	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr10	83171621	83171621	A	G	intergenic	SH2D4B,NRG3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Schizophrenia, association with |Increased ventrolateral PFC activation|Hirschsprung disease  	ICGC,
chr20	16588223	16588223	G	A	intergenic	KIF16B,SNRPB2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	-,-	ICGC,
chr2	130156005	130156005	A	C	intergenic	LOC151121,LOC389033	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr14	60036865	60036865	T	A	intronic	CCDC175	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8846425	-	OV-AU|1|93|0.01075	-	-	-	-	COSMIC,ICGC,
chr13	59878684	59878684	G	A	intergenic	LOC101926897,DIAPH3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,Autism  |Auditory neuropathy spectrum disorder|Auditory neuropathy	ICGC,
chr13	74266233	74266233	T	C	UTR3	KLF12	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr7	141780681	141780681	G	A	intronic	MGAM	unknown	SNV	-	-	0	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	homeostasis/metabolism phenotype	-	ICGC,
chr5	49547360	49547360	C	T	intergenic	NONE,EMB	unknown	SNV	-	-	-	0.0003	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	ICGC,
chr8	17486122	17486122	T	C	exonic	PDGFRL	nonsynonymous	SNV	0.003	0.987	-	-	-	-	-	-	-	COSM299400	COAD|1|367|0.00272,COADREAD|1|489|0.00204	-	-	-	-	Behcet disease, association with	COSMIC,TCGA,
chr14	102496269	102496269	G	C	exonic	DYNC1H1	nonsynonymous	SNV	0.089	0.009	-	-	-	-	-	-	-	COSM432682	BRCA|1|982|0.00102	BRCA-US|1|955|0.00105	-	-	mortality/aging	Spinal muscular atrophy.|Spinal muscular atrophy  |Mental retardation  |Malformations of cortical development|Malformation of cortical development|Intellectual disability with neuronal migration defects|Charcot-Marie-Tooth disease, axonal 	COSMIC,TCGA,ICGC,
chr13	64971977	64971977	A	C	intergenic	OR7E156P,PCDH9	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17667691	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr20	16203814	16203814	A	C	intergenic	MACROD2,KIF16B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	Kabuki syndrome|Attention deficit hyperactivity disorder ,-	ICGC,
chr4	178844955	178844955	G	A	ncRNA_intronic	LINC01098	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|2|100|0.02000	-	-	-	-	ICGC,
chr7	78679030	78679030	C	T	intronic	MAGI2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21417959	-	ESAD-UK|1|301|0.00332,BRCA-EU|1|569|0.00176	-	-	mortality/aging	Seizures|Schizophrenia|Myoclonic epilepsy |Infantile spasms in Williams-Beuren syndrome|Infantile spasms|Developmental delay & microcephaly|Developmental delay  |Developmental and/or speech and/or behavioural problems	COSMIC,ICGC,
chr9	111078664	111078664	C	T	intergenic	KLF4,ACTL7B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	integument phenotype,-	-,Schizophrenia	ICGC,
chr10	117499706	117499706	T	G	intronic	ATRNL1	unknown	SNV	-	-	-	0.1490	rs2490719	-	0.126398	-	0.130	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype	Cognitive impairment, autism & dysmorphic features 	ICGC,
chr4	66330072	66330072	A	C	intronic	EPHA5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	nervous system phenotype	Mental retardation|Dravet syndrome  |Attention deficit hyperactivity disorder & learning disabilities|Alzheimer disease  	ICGC,
chr2	228835524	228835524	G	A	intergenic	DAW1,SPHKAP	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	115168266	115168268	TTC	-	intronic	ATG12	unknown	deletion	-	-	6.542e-05	0.0017	-	-	-	-	-	-	-	GACA-JP|1|585|0.00171	-	-	-	Schizophrenia  	ICGC,
chr6	112495988	112495988	-	T	intronic	LAMA4	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN14739738	-	-	-	-	integument phenotype	Cardiomyopathy, dilated|Schizophrenia	COSMIC,
chr10	53604787	53604787	G	T	intronic	PRKG1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21431597	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging	Thoracic aortic aneurysms and dissections	COSMIC,ICGC,
chr8	108813787	108813787	G	A	intergenic	ANGPT1,RSPO2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,integument phenotype	Stroke, reduced risk, association with,Pancreatic cancer 	ICGC,
chr3	54846826	54846826	G	A	intronic	CACNA2D3	unknown	SNV	-	-	-	0.0002	rs562641273	-	0.000599042	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype	Autism 	ICGC,
chr5	163977414	163977414	C	T	intergenic	LOC102546299,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	182724406	182724406	A	G	intergenic	DCUN1D1,MCCC1	unknown	SNV	-	-	-	0.4980	rs6791884	-	0.639577	-	0.674	-	-	ESAD-UK|2|301|0.00664	-	-	-,-	-,Methylcrotonylglycinuria |Elevated 3-hydroxyisovalerylcarnitine / 3-methylcrotonylglycine levels|3-methylcrotonylglycinuria.|3-methylcrotonylglycinuria|3-methylcrotonyl-CoA carboxylase deficiency	ICGC,
chr2	76652939	76652939	C	T	intergenic	GCFC2,LRRTM4	unknown	SNV	-	-	-	0.0012	rs572443981	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr13	55341237	55341237	G	T	intergenic	MIR1297,MIR5007	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CN|1|65|0.01538	-	-	-,-	-,-	ICGC,
chr6	95057233	95057233	C	T	intergenic	TSG1,MANEA-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr2	134160288	134160288	T	G	ncRNA_intronic	MIR7853	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20632435	-	BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr16	21636281	21636281	C	T	exonic	METTL9	nonsynonymous	SNV	0.052	0.998	8.122e-06	-	rs776600015	1.648e-05	-	-	-	COSM3277965	-	-	-	-	-	-	COSMIC,
chr2	40296659	40296659	G	A	ncRNA_intronic	SLC8A1-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chrX	80688440	80688440	C	T	intergenic	SH3BGRL,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	186071024	186071024	G	A	intronic	DGKG	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr6	154185711	154185711	A	-	intergenic	RGS17,OPRM1	unknown	deletion	-	-	-	0.0001	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332,PRAD-CA|1|308|0.00325	-	-	-,integument phenotype	-,Striatal dopamine response to alcohol|Post-operative pain response, association with|Pressure pain sensitivity in females, association with|Proinflammatory cytokine levels and health perception, association with|Reduced agonist potency|Reduced agonist potency, association with|Reduced expression|Reduced promoter activity|Smoking behaviour, increased susceptibility|Pain perception, association with|Increased promoter activity|Impaired receptor signalling|Addiction, association with|Altered beta-endorphin binding, association with|Altered reinforcement learning, association with|Altered trafficking and/or signalling|Decreased body mass index, association with|Decreased receptor expression|Drug intake, association with |Epilepsy|Epilepsy, association with 	ICGC,
chr16	59535597	59535597	G	A	intergenic	GOT2,APOOP5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr14	70396580	70396580	C	T	intronic	SMOC1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Microphthalmia with limb anomalies|Waardenburg anophthalmia syndrome	ICGC,
chr5	134979850	134979850	G	A	intergenic	CXCL14,LOC340074	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,-	-,-	ICGC,
chr13	72636673	72636673	CC	TT	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr7	7802314	7802314	A	T	ncRNA_intronic	RPA3OS	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	OV-AU|1|93|0.01075	-	-	-	-	ICGC,
chr3	68341807	68341807	G	A	intronic	FAM19A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	-	ICGC,
chr18	68226239	68226239	T	A	intergenic	LOC101060542,GTSCR1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BOCA-UK|1|130|0.00769	-	-	-,-	-,-	ICGC,
chr12	79256944	79256944	A	G	upstream	SYT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging	-	ICGC,
chr1	119344666	119344666	C	T	intergenic	SPAG17,TBX15	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	Autism,Cousin syndrome	ICGC,
chr9	34346744	34346744	G	A	intergenic	NUDT2,KIAA1161	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	ICGC,
chr3	75968967	75968967	A	G	intergenic	ZNF717,ROBO2	unknown	SNV	-	-	-	3.232e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	Potential protein deficiency,Autism spectrum disorder  |Urinary tract anomalies|Vesicoureteral reflux	ICGC,
chr5	51457171	51457171	C	T	intergenic	ISL1,PELO	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,mortality/aging	Cardiomyopathy, dilated|Diabetes, type 2|Intellectual and developmental disabilities,-	ICGC,
chr14	38552899	38552899	A	G	intergenic	FOXA1,SSTR1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	integument phenotype,vision/eye phenotype	Impaired glucose homeostasis ,-	ICGC,
chr21	21231174	21231174	A	C	intergenic	LOC101927797,LINC00320	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5767670	-	LINC-JP|1|394|0.00254	-	-	-,-	-,-	COSMIC,ICGC,
chr9	106377925	106377925	A	C	intergenic	LOC101928496,LOC101928523	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20691942	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr14	26546310	26546310	A	T	intergenic	STXBP6,NOVA1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23840926	-	ORCA-IN|1|178|0.00562	-	-	-,mortality/aging	-,-	COSMIC,ICGC,
chr8	101535306	101535306	G	C	intronic	ANKRD46	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr14	73603081	73603081	G	T	upstream	PSEN1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26554274	-	LICA-CN|1|402|0.00249	-	-	integument phenotype	Dementia, with lysosomal inclusions|Dementia, pyramidal system involvement, and leukoencephalopathy |Dementia with Lewy bodies.|Dementia with Lewy bodies and Alzheimer disease|Dementia with Lewy bodies|Dementia  |Frontotemporal dementia|Frontotemporal dementia, early-onset.|Language impairment|Posterior cortical atrophy|Presenile dementia and parkinsonism|Primary progressive aphasia.|Progressive nonfluent aphasia|Spastic paraparesis and atypical dementia|Subcortical dementia and parkinsonism|Cardiomyopathy, dilated, and heart failure|Cardiomyopathy, dilated|Autism|Acne inversa, familial|Alzheimer disease|Alzheimer disease with epilepsy and frontotemporal atrophy|Alzheimer disease with frontotemporal dementia.|Alzheimer disease, association with|Alzheimer disease, ataxic variant|Alzheimer disease, early onset|Alzheimer disease, early onset & presenile dementia|Alzheimer disease, early onset & spastic paraparesis|Alzheimer's disease, early-onset|Alzheimer disease, late-onset, protection, association |Alzheimer disease, early-onset, with cerebellar ataxia|Alzheimer disease, early-onset, atypical.|Alzheimer disease, early-onset |Alzheimer disease, early onset.	COSMIC,ICGC,
chr2	105340877	105340877	A	T	intergenic	LINC01102,LINC01114	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22034456	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr1	207817382	207817382	C	T	intergenic	CR1,CR1L	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21260060	-	BRCA-EU|1|569|0.00176	-	-	-,-	Idiopathic pulmonary fibrosis, association with |Knops blood group variation|Resistance to Mtb infection, association with |Spontaneous idiopathic preterm birth, association with|Haemolytic uraemic syndrome, atypical|Erythrocyte sedimentation rate, association with|Episodic memory decline, association with|Depression, association with |Dense deposit disease |Alzheimer disease, association with|Alzheimer disease ,Schizophrenia	COSMIC,ICGC,
chr3	35080241	35080241	T	G	ncRNA_intronic	LOC101928135	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23105022	-	MALY-DE|1|241|0.00415	-	-	-	-	COSMIC,ICGC,
chr4	154594878	154594878	T	C	intergenic	KIAA0922,TLR2	unknown	SNV	-	-	-	0.2117	rs4696187	-	0.236022	-	0.275	-	-	ESAD-UK|2|301|0.00664	-	-	-,integument phenotype	-,Gastric cancer, decreased risk|Hepatocellular carcinoma, in chronic hepatitis C, association with.|Leprosy, susceptibility, association with|Meningococcal disease, reduced risk, association with|Paediatric pulmonary tuberculosis, association with|Pancreatitis, acute, association with|Reduced activity|Spontaneous bacterial peritonitis in liver cirrhosis|Staphylococcus aureus infection, increased risk, association with|Tuberculosis, increased risk, association with|Tuberculosis, pulmonary, association with|Gastric cancer, association with|Familial mediterranean fever, modifier of|Acne vulgaris, severe, association with|Altered promoter activity|Alzheimers disease, late onset, association with|Asthma, association with|Atopic dermatitis, severe, association with|Bacterial infection, association with|Bancroftian filariasis, asumptomatic, association with|Bladder cancer, association with.|Cerebral malaria, protection against, association with.|Cervical cancer susceptibility, association with|Cytomegalovirus disease after liver transplantation, increased risk, association with	ICGC,
chr9	10916081	10916081	T	-	intergenic	PTPRD-AS2,TYRP1	unknown	deletion	-	-	-	0.0244	-	-	-	-	-	-	-	BTCA-SG|3|71|0.04225,MALY-DE|1|241|0.00415	-	-	-,integument phenotype	-,Albinism, oculocutaneous  |Albinism, oculocutaneous 3|Melanesian blond hair	ICGC,
chr7	24321719	24321719	C	T	intergenic	STK31,NPY	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,skeleton phenotype	-,Major depressive disorder, association with|Metabolic syndrome in coronary artery disease, association with|Schizophrenia, association with|Serum leptin levels, and waist-hip ratio, in women, association with.|Hypertension, association with|Huntington disease, age at onset, association with|Elevated plasma LDL, association with|Diabetes, type II,  in middle-aged subjects, association with|Coronary artery disease, association with|Altered response to growth factors, association with|Alcohol dependence, association with|Stress response	ICGC,
chr10	15993962	15993962	T	A	intergenic	FAM188A,PTER	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	Non-small-cell lung cancer, increased risk, association with,-	ICGC,
chrX	51722907	51722907	G	A	intergenic	MAGED1,MAGED4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	-,-	ICGC,
chr8	3658335	3658335	C	A	intronic	CSMD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	Schizophrenia, association with |Hyperinsulinism|Autism|Attention deficit hyperactivity disorder 	ICGC,
chr2	166967478	166967478	G	A	ncRNA_intronic	LOC101929680	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr16	89712326	89712326	G	A	exonic	CHMP1A	nonsynonymous	SNV	-	-	0	3.232e-05	rs757300622	0	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Pontocerebellar hypoplasia & microcephaly	ICGC,
chr11	30065393	30065393	C	T	intergenic	KCNA4,FSHB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,reproductive system phenotype	-,Altered gonadotropin secretion, association with|Follicle-stimulating hormone deficiency|Reduced reproductive potential, association with|Reduced serum FSH	ICGC,
chr9	86839076	86839076	G	T	intergenic	LOC101927575,SLC28A3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,Reduced sodium-binding capacity	ICGC,
chr14	88887343	88887343	C	T	intronic	SPATA7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Leber congenital amaurosis|Leber congenital amaurosis ?|Leber congenital amaurosis & early-onset retinal dystrophy|Leber congenital amaurosis IV|Retiniitis pigmentosa, juvenile|Retinitis pigmentosa	ICGC,
chr2	100797574	100797574	A	G	intergenic	AFF3,LINC01104	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	skeleton phenotype,-	Developmental delay  |Mesomelic dysplasia,-	ICGC,
chr12	79140082	79140082	C	T	intergenic	NAV3,SYT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,-	ICGC,
chr2	137833710	137833710	G	A	intronic	THSD7B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25020067	-	LICA-FR|1|252|0.00397	-	-	-	Autism spectrum disorder	COSMIC,ICGC,
chr1	111119573	111119573	-	CACT	intergenic	KCNA10,KCNA2	unknown	insertion	-	-	-	0.2187	rs397779306	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-,mortality/aging	-,-	ICGC,
chr5	83122350	83122350	T	C	intergenic	HAPLN1,EDIL3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging,immune system phenotype	-,Schizophrenia  	ICGC,
chr10	125156764	125156764	C	T	intergenic	BUB3,GPR26	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,behavior/neurological phenotype	Variegated aneuploidy,-	ICGC,
chr11	99286226	99286226	T	G	intronic	CNTN5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23208737	-	MALY-DE|1|241|0.00415	-	-	behavior/neurological phenotype	-	COSMIC,ICGC,
chr13	64555105	64555105	C	T	intergenic	OR7E156P,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7411266	-	PACA-CA|1|268|0.00373,PACA-AU|1|391|0.00256,MELA-AU|1|183|0.00546	-	-	-,-	-,-	COSMIC,COSMIC,ICGC,
chr8	116738677	116738677	C	G	intergenic	TRPS1,LINC00536	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415,MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Tricho-rhino-phalangeal syndrome with supernumerary teeth|Tricho-rhino-phalangeal syndrome III|Tricho-rhino-phalangeal syndrome I|Tricho-rhino-phalangeal syndrome|Infantile scoliosis & developmental delay|Femoral neck width, association with|Ambras syndrome,-	ICGC,
chr2	408027	408027	G	A	intergenic	FAM150B,TMEM18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,Obesity  	ICGC,
chr14	88382071	88382071	C	T	intergenic	LOC283585,GALC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Krabbe disease, association with|Krabbe disease|Glaucoma, primary open-angle|Glaucoma, primary open angle	ICGC,
chr9	105428396	105428396	T	C	intergenic	LINC00587,CYLC2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6373115	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,Potential protein deficiency	COSMIC,ICGC,
chr2	156625911	156625911	C	T	intergenic	KCNJ3,AC093375.1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	cardiovascular system phenotype,-	Schizophrenia, association with  ,-	ICGC,
chr7	108846852	108846852	-	TTTT	intergenic	C7orf66,EIF3IP1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chrX	84773123	84773123	T	G	intergenic	POF1B,CHM	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	normal phenotype,mortality/aging	Premature ovarian failure, association with,Choroideraemia|Potential protein deficiency	ICGC,
chr15	46693505	46693505	A	C	intergenic	SQRDL,SEMA6D	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,immune system phenotype	-,Developmental language disorder 	ICGC,
chr7	18184234	18184234	T	C	intronic	HDAC9	unknown	SNV	-	-	-	3.229e-05	rs370540681	-	-	-	-	COSN7658215	-	ESAD-UK|1|301|0.00332,PRAD-CA|1|308|0.00325,PACA-CA|1|268|0.00373	-	-	mortality/aging	Peters' anomaly |Immunodeficiency, common variable, association with  	COSMIC,ICGC,
chr16	57617754	57617754	C	T	intergenic	GPR114,GPR56	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-,integument phenotype	-,Polymicrogyria, bilateral frontoparietal|Gyral abnormality	ICGC,
chr3	151046320	151046320	G	A	exonic	P2RY13	nonsynonymous	SNV	0.001	0.999	-	-	-	-	-	-	-	-	COAD|1|367|0.00272,COADREAD|1|489|0.00204	COAD-US|1|254|0.00394	-	-	skeleton phenotype	-	TCGA,ICGC,
chr8	134707605	134707605	G	A	intergenic	ST3GAL1,ZFAT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype,mortality/aging	-,Autoimmune thyroid disease, association with	ICGC,
chr21	15468006	15468006	A	C	intergenic	ANKRD20A11P,LIPI	unknown	SNV	-	-	-	0.8424	rs8132949	-	0.864617	-	0.855	-	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	-,Plasma HDL cholesterol, association with|Plasma HDL cholesterol|Hypertriglyceridaemia	ICGC,
chr21	25532925	25532925	G	A	intergenic	D21S2088E,LOC101927869	unknown	SNV	-	-	-	3.235e-05	rs748349461	-	-	-	-	COSN10024300	-	RECA-EU|1|422|0.00237	-	-	-,-	-,-	COSMIC,ICGC,
chr2	152214205	152214205	C	T	exonic	TNFAIP6	nonsynonymous	SNV	0.051	0.036	-	-	-	-	-	-	-	COSM1007333	UCEC|1|248|0.00403	UCEC-US|1|250|0.00400	-	-	reproductive system phenotype	-	COSMIC,TCGA,ICGC,
chr9	103848541	103848541	T	G	intronic	LPPR1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr8	5821268	5821268	G	A	intergenic	CSMD1,LOC100287015	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Schizophrenia, association with |Hyperinsulinism|Autism|Attention deficit hyperactivity disorder ,-	ICGC,
chr10	8121135	8121135	C	T	intergenic	GATA3,LINC00708	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8721913	-	OV-AU|1|93|0.01075	-	-	integument phenotype,-	Sensorineural hearing loss, facial dysmorphism & delayed psychomotor development|Hypoparathyroidism, deafness and renal dysplasia|Hypoparathyroidism and deafness|Acute lymphoblastic leukaemia, association with ,-	COSMIC,ICGC,
chr10	125537037	125537037	G	A	intronic	CPXM2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Potential protein deficiency	ICGC,
chr18	9163546	9163546	T	-	intronic	ANKRD12	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	other phenotype	-	ICGC,
chr1	88383920	88383920	C	T	intergenic	LINC01364,PKN2-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr8	90100046	90100046	G	T	intergenic	MMP16,RIPK2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	mortality/aging,hematopoietic system phenotype	-,Autism spectrum disorder	ICGC,
chr13	58444146	58444146	A	G	intergenic	PCDH17,LOC101926897	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr6	55809879	55809879	C	T	intergenic	BMP5,COL21A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493,MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Microtia |Osteoarthritis, susceptibility, association with,-	ICGC,
chr1	78006602	78006602	T	C	intronic	AK5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-	-	ICGC,
chr5	29583272	29583272	C	T	intergenic	LOC101929681,CDH6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,renal/urinary system phenotype	-,-	ICGC,
chr7	61838742	61838742	C	T	intergenic	NONE,ZNF733P	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9504584	-	OV-AU|1|93|0.01075	-	-	-,-	-,-	COSMIC,ICGC,
chrX	29165308	29165308	C	A	intronic	IL1RAPL1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20883947	-	BRCA-EU|1|569|0.00176	-	-	nervous system phenotype	Mental retardation, X-linked|Mental retardation with dysmorphic features|Mental retardation and autism|Intellectual disability, X-linked with dysmorphism|Intellectual disability, X-linked|Intellectual disability, dysmorphic signs, deafness & behavioural problems|Intellectual disability & behavioural problems|Developmental delay, learning disability & microcephaly|Autism spectrum disorder  |Asperger syndrome	COSMIC,ICGC,
chr5	23515117	23515117	G	A	intronic	PRDM9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	reproductive system phenotype	Altered meiotic recombination hotspot usage|Azoospermia by meiotic arrest, association with |Azoospermia, non-obstructive 	ICGC,
chr5	94246616	94246616	G	T	intronic	MCTP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-	-	ICGC,
chr18	40363782	40363782	G	T	intronic	RIT2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-	-	ICGC,
chr2	209885947	209885947	C	T	intergenic	PTH2R,MAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	no phenotypic analysis,mortality/aging	Autism spectrum disorder,Autism spectrum disorder  	ICGC,
chr11	131673809	131673809	C	T	intronic	NTM	unknown	SNV	-	-	-	3.229e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Aortic aneurysm, thoracic & intracranial|Potential protein deficiency	ICGC,
chrX	82994912	82994912	G	T	intergenic	POU3F4,CYLC1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PEME-CA|1|112|0.00893	-	-	integument phenotype,-	X-linked mixed deafness|X-linked deafness|Sensorineural hearing loss  |Mixed hearing loss |Hearing loss, X-linked nonsyndromic|Hearing loss & mental retardation,-	ICGC,
chr7	38632350	38632350	C	T	intronic	AMPH	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	-	ICGC,
chr8	142161746	142161746	G	A	exonic	DENND3	nonsynonymous	SNV	0.205	1.0	2.031e-05	-	rs773734634	1.648e-05	-	-	-	-	COADREAD|1|489|0.00204,READ|1|122|0.00820	-	-	-	-	-	TCGA,
chrX	120773906	120773906	G	A	intergenic	GLUD2,GRIA3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	Parkinson disease, earlier onset, association with,Mental retardation, X-linked|Intellectual disability, X-linked with facial dysmorphism|Intellectual disability, X-linked|Autism spectrum disorder	ICGC,
chr3	165833388	165833388	C	T	intergenic	BCHE,ZBBX	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|2|183|0.01093	-	-	mortality/aging,-	Serum cholinesterase deficiency|Potential protein deficiency|Obesity and triglyceride levels, association with|Hypocholinesterasaemia|Fronto-temporal dementia, association with|Cholinesterasaemia|Butyrylcholinesterase variant|Butyrylcholinesterase deficiency|Addiction to crack cocaine, association with|Acholinesterasaemia,-	ICGC,
chr19	22099900	22099900	T	C	intergenic	ZNF43,ZNF208	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr7	30918704	30918704	G	A	ncRNA_intronic	INMT-FAM188B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-	-	ICGC,
chr5	12709520	12709520	G	A	ncRNA_intronic	LINC01194	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr8	63003333	63003333	C	T	intergenic	MIR4470,NKAIN3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Dravet syndrome   	ICGC,
chr8	2530973	2530973	T	A	intergenic	MYOM2,CSMD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	-,-	-,Schizophrenia, association with |Hyperinsulinism|Autism|Attention deficit hyperactivity disorder 	ICGC,
chr14	33702179	33702179	C	T	intronic	NPAS3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15439179	-	OV-AU|1|93|0.01075	-	-	mortality/aging	Mental illness|Schizophrenia	COSMIC,COSMIC,ICGC,
chr4	62973319	62973319	T	A	ncRNA_intronic	LPHN3-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25494013	-	MALY-DE|1|241|0.00415	-	-	-	-	COSMIC,ICGC,
chr12	13905041	13905041	A	G	intronic	GRIN2B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Mental retardation, behavioural anomalies & abnormal EEG|Potential protein deficiency|Schizophrenia, association with|Schizophrenia, association with.|West syndrome|Mental retardation with behavioural anomalies|Intellectual disability  |Huntington disease, earlier onset in females, association with|Focal epilepsy & intellectual disability|Autism spectrum disorder|Autism|Alzheimer disease, increased risk, association with	ICGC,
chr14	106732926	106732926	C	T	intergenic	ADAM6,LINC00226	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr11	3829475	3829475	G	A	intronic	PGAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	Intellectual disability, autosomal recessive|Hyperphosphatasia with mental retardation syndrome 	ICGC,
chr6	9905703	9905704	AT	-	intergenic	LOC100506207,TFAP2A	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|2|67|0.02985	-	-	-,integument phenotype	-,Schizophrenia, episodic, association |Orofacial clefting |Developmental delay/intellectual disability and nasolacrimal duct obstruction|Cisplatin resistance|Branchio-oculo-facial syndrome with thyroglossal duct cyst|Branchio-oculo-facial syndrome	ICGC,
chr20	22630883	22630883	T	G	intergenic	LINC01384,SSTR4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,integument phenotype	-,-	ICGC,
chr10	1982068	1982068	A	T	intergenic	ADARB2,LINC00700	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22386413	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr16	7143879	7143879	C	G	intronic	RBFOX1	unknown	SNV	-	-	-	0.2151	rs12103323	-	0.259585	-	0.196	-	-	LAML-KR|1|205|0.00488	-	-	mortality/aging	Muscular and feet abnormalities|Mental retardation|Epilepsy, rolandic  |Epilepsy|Developmental delay, facial dysmorphism  |Developmental delay and transposition of the great arteries|Developmental delay and diplegia|Developmental delay and craniosynostosis|Developmental delay  |Cardiac defects|Cardiac abnormalities, micrognathia and scoliosis|Autism spectrum disorder|Autism|Attention deficit hyperactivity disorder 	ICGC,
chr19	2478369	2478369	C	G	downstream	GADD45B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17795160	-	ESAD-UK|1|301|0.00332	-	-	hematopoietic system phenotype	Inter-ventricular septum hypertrophy, assoc	COSMIC,ICGC,
chr9	69000612	69000612	C	T	intergenic	LOC100132352,PGM5P2	unknown	SNV	-	-	-	-	rs1831619	-	-	-	0.116	COSN16161632	-	PRAD-CA|2|308|0.00649,SKCA-BR|2|100|0.02000,LUSC-KR|1|170|0.00588	-	-	-,-	-,-	COSMIC,ICGC,
chr5	125823736	125823736	T	C	intronic	GRAMD3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-	-	ICGC,
chr5	18540364	18540364	G	T	intergenic	LOC401177,CDH18	unknown	SNV	-	-	-	0.0005	rs199670422	-	-	-	-	COSN17005508	-	-	-	-	-,-	-,Anorectal malformation	COSMIC,COSMIC,
chr6	165793643	165793643	A	-	intronic	PDE10A	unknown	deletion	-	-	-	3.264e-05	-	-	-	-	-	-	-	PACA-AU|1|391|0.00256	-	-	behavior/neurological phenotype	-	ICGC,
chr21	22312789	22312789	T	A	intergenic	LINC00320,NCAM2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23946755	-	LAML-KR|2|205|0.00976	-	-	-,taste/olfaction phenotype	-,-	COSMIC,ICGC,
chrX	118541602	118541602	G	A	intronic	SLC25A43	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	Autism spectrum disorder|Potential protein deficiency	ICGC,
chr6	2697309	2697309	G	A	intronic	MYLK4	unknown	SNV	-	-	-	0.0004	rs529357479	-	0.000399361	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr13	57316537	57316537	T	A	intergenic	MIR5007,PRR20A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr10	30497036	30497036	G	A	intergenic	KIAA1462,LOC101929279	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493,SKCA-BR|1|100|0.01000	-	-	-,-	Autism|Coronary artery disease, association with,-	ICGC,
chr4	9943702	9943702	G	T	intronic	SLC2A9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	mortality/aging	Gout, association with|Renal hypouricaemia|Renal hypouricaemia with exercise-induced acute renal failure	ICGC,
chrX	100169342	100169342	C	T	exonic	XKRX	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM4105297	STAD|1|395|0.00253,STES|1|395|0.00253	STAD-US|1|289|0.00346	-	-	-	Potential protein deficiency	COSMIC,TCGA,ICGC,
chr6	66677081	66677081	G	A	intergenic	SLC25A51P1,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	ICGC,
chr2	83563676	83563676	C	T	intergenic	LOC1720,FUNDC2P2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr17	39799311	39799311	-	A	intergenic	KRT42P,EIF1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	ICGC,
chr10	96671172	96671172	A	G	intergenic	CYP2C19,CYP2C9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Platelet reactivity in coronary stenting, association with|Poor metaboliser|Potential protein deficiency|Reduced expression|Reduced holoprotein levels|Reduced promoter activity|Ultrarapid metaboliser|Peptic ulcer disease, association with.|Increased promoter activity|Endometriosis, association with|Adverse vascular events in coronary artery disease, association with|Altered catalytic activity|Aspirin-exacerbated respiratory disease, association with|Biliary tract cancer, association with|Bleeding after coronary stenting, association with|Bleeding in clopidogrel-treated patients, association with|Bronchial asthma, association with,Warfarin sensitivity, association with|Warfarin sensitivity |Warfarin dosage|Reduced promoter activity|Reduced activity of the renin-angiotensin-aldosterone system|Potential protein deficiency|Poor metaboliser|Impaired diclofenac metabolism|Coumarin hypersensitivity|Acenocoumarol and phenytoin toxicity	ICGC,
chr7	51095705	51095705	G	C	exonic	COBL	nonsynonymous	SNV	0.123	0.021	4.238e-06	-	-	-	-	-	-	-	HNSC|1|512|0.00195	-	-	-	nervous system phenotype	-	TCGA,
chr7	119093019	119093019	A	G	intergenic	ANKRD7,KCND2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Epilepsy, temporal lobe	ICGC,
chr7	39657446	39657446	A	C	intergenic	YAE1D1,RALA	unknown	SNV	-	-	-	0.0250	rs3213655	-	0.0541134	-	0.022	-	-	LAML-KR|1|205|0.00488	-	-	-,-	Schizophrenia,-	ICGC,
chr3	87784241	87784241	G	C	intergenic	POU1F1,HTR1F	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging,integument phenotype	Mental retardation, in women, association with|Pituitary hormone deficiencies, multiple|Pituitary hormone deficiency,-	ICGC,
chr22	22368198	22368198	G	A	intergenic	TOP3B,VPREB1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype,hematopoietic system phenotype	Short stature|Schizophrenia / cognitive impairment, association with|Mild mental retardation and generalised overgrowth,Rheumatoid arthritis, reduced risk, association with	ICGC,
chr8	31642427	31642427	T	G	intronic	NRG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype	Sudden cardiac death, association with|Schizophrenia, association with  |Schizophrenia in African Americans, association with|Prepulse inhibition, association with|Perceptual aberration of schizotypal personality, association with|Increased lateral ventricle volume in schizophrenia|Hirschsprung disease|Developmental delay, hypotonia & microcephaly|Alzheimers disease, association with	ICGC,
chr4	162716616	162716616	G	A	intronic	FSTL5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23848881	-	ORCA-IN|1|178|0.00562	-	-	-	Schizophrenia  |Rolandic epilepsy 	COSMIC,ICGC,
chr2	59088951	59088951	T	A	ncRNA_intronic	LINC01122	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17719943	-	ESAD-UK|1|301|0.00332	-	-	-	-	COSMIC,ICGC,
chr17	71429908	71429908	G	A	exonic	SDK2	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM5416306	-	CLLE-ES|1|510|0.00196	-	-	-	-	COSMIC,COSMIC,ICGC,
chr8	62206580	62206580	G	A	intronic	CLVS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr6	149257576	149257576	T	C	intronic	UST	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2146968	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr13	105514584	105514584	T	A	intergenic	MIR548AS,DAOA-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr8	84107378	84107378	C	A	intergenic	SNX16,LINC01419	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	ICGC,
chr19	53799021	53799021	G	A	intergenic	BIRC8,ZNF845	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	48428374	48428374	-	T	downstream	SLAIN2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408,LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr11	11331473	11331473	C	T	intronic	GALNT18	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15784267	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr14	55700179	55700179	T	G	intergenic	DLGAP5,FBXO34	unknown	SNV	-	-	-	3.228e-05	-	-	-	-	-	-	-	PACA-AU|1|391|0.00256	-	-	reproductive system phenotype,-	-,-	ICGC,
chr4	167637522	167637522	C	T	intergenic	TLL1,SPOCK3	unknown	SNV	-	-	-	0.3627	rs112247047	-	0.422125	-	0.428	-	-	LAML-KR|2|205|0.00976,MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Hyperinsulinism|Atrial septal defect  ,-	ICGC,
chr10	110805688	110805688	C	A	intergenic	SORCS1,RNU6-53P	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17517419	-	ESAD-UK|1|301|0.00332	-	-	other phenotype,-	Autism ,-	COSMIC,ICGC,
chr7	156697694	156697694	C	T	intergenic	LMBR1,NOM1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,-	Preaxial polydactyly|Acheiropodia,-	ICGC,
chr1	227947672	227947672	-	T	intronic	SNAP47	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PACA-AU|1|391|0.00256	-	-	hematopoietic system phenotype	-	ICGC,
chr1	235523282	235523282	G	A	intergenic	GGPS1,TBCE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	no phenotypic analysis,mortality/aging	-,Sanjad-Sakati syndrome|Hypoparathyroidism-retardation-dysmorphic syndrome	ICGC,
chr3	35827832	35827832	G	A	intronic	ARPP21	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	nervous system phenotype	-	ICGC,
chr6	20041836	20041836	G	T	intergenic	ID4,MBOAT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging,-	-,-	ICGC,
chr6	144758855	144758855	G	T	exonic	UTRN	nonsynonymous	SNV	0.001	1.0	-	-	-	-	-	-	-	COSM6275249	-	LICA-CN|1|402|0.00249	-	-	mortality/aging	Arthrogryposis |Schizophrenia	COSMIC,ICGC,
chr11	2149160	2149160	C	T	intergenic	H19,IGF2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,integument phenotype	Silver-Russell syndrome|Growth retardation  |Birthweight, association with |Beckwith-Wiedemann syndrome ,Hypertension, increased risk, association with|Intrauterine growth retardation and atypical diabetes|Invasive epithelial ovarian cancer, reduced risk|Reduced BMI, in adult males, association with	ICGC,
chr4	188284996	188284996	C	T	ncRNA_intronic	LOC339975	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr19	45116654	45116654	A	G	upstream	IGSF23	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8260970	-	PACA-CA|1|268|0.00373	-	-	-	-	COSMIC,ICGC,
chr7	152827418	152827418	C	T	intergenic	ACTR3B,DPP6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-,nervous system phenotype	-,Autism spectrum disorder  |Schizophrenia  |Ventricular fibrillation, idiopathic 	ICGC,
chr6	49404956	49404956	C	T	intronic	MUT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Methylmalonic aciduria	ICGC,
chr2	181453135	181453135	T	C	intergenic	CWC22,SCHLAP1	unknown	SNV	-	-	-	3.236e-05	rs539621039	-	0.00339457	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	-,-	ICGC,
chr19	2403141	2403141	G	T	exonic	TMPRSS9	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM6317603	-	LICA-CN|1|402|0.00249	-	-	-	-	COSMIC,ICGC,
chr7	35333257	35333257	T	C	intergenic	TBX20,LOC401324	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20556051	-	COCA-CN|1|321|0.00312	-	-	mortality/aging,-	Ventricular septal defect|Tetralogy of Fallot|Congenital heart disease|Atrial septal defects, patent foramen ovale & cardiac valve defec,-	COSMIC,ICGC,
chr3	185256609	185256642	ACATATACATATATACATATATACACATATATAT	-	intronic	LIPH	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	integument phenotype	Woolly hair, hypotrichosis, hearing difficulty, cleft palate and amblyopia.|Woolly hair, autosomal recessive.|Woolly hair|Hypotrichosis / woolly hair|Hypotrichosis|Hair growth deficiency	ICGC,
chr12	94578342	94578342	A	G	intronic	PLXNC1	unknown	SNV	-	-	-	0.4855	rs3847808	-	0.482628	-	0.514	-	-	LAML-KR|1|205|0.00488	-	-	vision/eye phenotype	-	ICGC,
chr5	41199015	41199015	C	T	intronic	C6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	cardiovascular system phenotype	Complement C6 deficiency, subtotal|Complement C6 deficiency	ICGC,
chr11	98649929	98649929	G	A	intergenic	MIR7976,CNTN5	unknown	SNV	-	-	-	3.326e-05	-	-	-	-	-	COSN17867788	-	ESAD-UK|1|301|0.00332,PACA-AU|1|391|0.00256	-	-	-,behavior/neurological phenotype	-,-	COSMIC,COSMIC,ICGC,
chr2	14319959	14319959	G	T	intergenic	LOC100506474,LINC00276	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BOCA-FR|1|98|0.01020	-	-	-,-	-,-	ICGC,
chr20	7706799	7706799	G	C	intergenic	MIR8062,HAO1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1880493	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr1	163428205	163428205	T	G	intergenic	LOC100422212,PBX1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Schizophrenia	ICGC,
chr1	164375300	164375300	C	T	intergenic	LOC100422212,PBX1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Schizophrenia	ICGC,
chr9	122671675	122671675	-	GGATGGATCGATAGATAGATAGATA	intergenic	BRINP1,MIR147A	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr2	203002860	203002860	T	C	intronic	LOC100652824	unknown	SNV	-	-	-	0.3413	rs16838877	-	0.405351	-	0.377	-	-	LAML-KR|1|205|0.00488	-	-	-	-	ICGC,
chr3	134401570	134401570	C	T	intergenic	KY,EPHB1	unknown	SNV	-	-	-	3.229e-05	rs539535226	-	0.000199681	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	skeleton phenotype,vision/eye phenotype	-,-	ICGC,
chr1	69565821	69565821	G	A	intergenic	DEPDC1-AS1,LRRC7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397,MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,-	ICGC,
chr4	123151416	123151418	AAC	-	intronic	KIAA1109	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	GACA-JP|1|585|0.00171	-	-	-	Schizophrenia  	ICGC,
chr11	96232408	96232408	G	T	ncRNA_intronic	JRKL-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr4	118000900	118000900	G	A	intergenic	MIR1973,TRAM1L1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	OV-AU|1|93|0.01075	-	-	-,-	-,-	ICGC,
chr19	50458571	50458571	-	AA	intronic	SIGLEC11	unknown	insertion	-	-	-	0.2366	rs748761217	-	-	-	-	COSN27352221	-	-	-	-	-	-	COSMIC,
chr3	86746507	86746507	A	G	intergenic	RNU6-69P,VGLL3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1969592	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr1	216608877	216608877	C	T	intergenic	USH2A,ESRRG	unknown	SNV	-	-	-	0.4146	rs11589613	-	0.427117	-	0.341	-	-	LAML-KR|1|205|0.00488	-	-	vision/eye phenotype,mortality/aging	Retinitis pigmentosa?|Retinitis pigmentosa.|Sensorineural hearing loss, nonsyndromic  |Usher syndrome  |Usher syndrome 1  |Usher syndrome 2|Usher syndrome 2a|Usher syndrome 3 |Retinitis pigmentosa, recessive, no hearing loss|Retinitis pigmentosa, autosomal recessive.|Retinitis pigmentosa, autosomal recessive |Retinitis pigmentosa|Retinal degeneration|Hearing loss, early-childhood|Deafness, non-syndromic |Deafness  |Autism spectrum disorder|Autism,Breast cancer, association with 	ICGC,
chr9	73363654	73363654	G	T	intronic	TRPM3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	integument phenotype	Schizophrenia  |Mental retardation	ICGC,
chr11	55011190	55011190	T	G	intergenic	NONE,TRIM48	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15294756	-	ESAD-UK|4|301|0.01329	-	-	-,-	-,-	COSMIC,COSMIC,ICGC,
chr11	11761937	11761937	C	T	intergenic	MIR4299,MIR8070	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr11	46278767	46278767	-	TCTTTTGTATTTA	intergenic	LOC101928894,CREB3L1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,hematopoietic system phenotype	-,Osteogenesis imperfecta, autosomal recessive	ICGC,
chr7	33699365	33699365	G	A	intergenic	BBS9,BMPER	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	Wilms tumour |Tetralogy of Fallot|Nephronophthisis-related ciliopathy|Bardet-Biedl syndrome,Diaphanospondylodysostosis	ICGC,
chr19	21540715	21540715	-	TTT	intergenic	ZNF708,ZNF738	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr19	58850175	58850175	G	T	exonic	ZSCAN22	nonsynonymous	SNV	0.002	1.0	-	-	-	-	-	-	-	-	LUAD|1|543|0.00184	-	-	-	-	-	TCGA,
chr2	147747491	147747491	C	T	intergenic	PABPC1P2,ACVR2A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588,MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,-	ICGC,
chr7	151915030	151915030	T	G	intronic	KMT2C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	-	ICGC,
chr2	216226301	216226301	C	T	exonic	FN1	nonsynonymous	SNV	0.0	0.082	4.062e-06	-	-	-	-	-	-	COSM32200	-	-	-	-	integument phenotype	Autism|Glomerulopathy with fibronectin deposits|Schizophrenia	COSMIC,
chrX	140350351	140350351	T	-	intergenic	LDOC1,SPANXA2-OT1	unknown	deletion	-	-	-	0.0001	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr7	113396808	113396808	C	T	intergenic	LINC00998,PPP1R3A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,growth/size phenotype	-,Insulin resistance, association with|Insulin resistance|Glycemia variation, association with	ICGC,
chr8	5194991	5194991	C	A	intergenic	CSMD1,LOC100287015	unknown	SNV	-	-	-	0.2232	rs17352339	-	0.252596	-	0.254	-	-	ESAD-UK|2|301|0.00664	-	-	-,-	Schizophrenia, association with |Hyperinsulinism|Autism|Attention deficit hyperactivity disorder ,-	ICGC,
chr3	74125828	74125828	-	ACACACACA	intergenic	PDZRN3-AS1,CNTN3	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr5	130234129	130234129	C	T	intergenic	CHSY3,HINT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,cellular phenotype	-,Axonal neuropathy with neuromyotonia	ICGC,
chr2	47636481	47636481	-	ATTT	intronic	MSH2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	integument phenotype	Metachronous colorectal carcinoma |Malignant fibrous histiocytoma|Lynch syndrome-associated breast cancer.|Lynch syndrome-associated breast cancer|Increased risk of urothelial cancer in HNPCC patients|HNPCC, anticipation effects, association with|High-grade dysplasia/cancer in ulcerative colitis, association|Head and neck cancer, reduced risk, association with|Mismatch repair defect|Muir-Torre syndrome|Ovarian cancer |Turcot syndrome |Signs of neurofibromatosis type I|Renal cell carcinoma|Renal and ureteric cancer|Reduced expression|Radiosensitivity in breast cancer patients, association with|Prostate cancer|Pancreatic cancer|Glioma|Gastrointestinal cancer.|Colorectal cancer|Colorectal / endometrial cancer|Colon cancer|CNS tumour and lymphoma|Breast carcinoma|Breast cancer.|Breast and colorectal cancer|Acute lymphocytic leukaemia and cafe-au-lait spots|Colorectal cancer, early onset |Colorectal cancer, non-polyposis|Colorectal cancer, non-polyposis with increased risk of urothelial cancer|Gastrointestinal cancer  |Gastric cancer |Endometrial cancer.|Endometrial cancer   |Colorectal cancer, young-onset|Colorectal cancer, non-polyposis, with leiomyosarcoma.|Colorectal cancer, non-polyposis, early-onset|Colorectal cancer, non-polyposis, association	ICGC,
chrX	95166789	95166789	C	A	intergenic	NONE,LOC643486	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr9	31529284	31529284	T	C	intergenic	LINC01242,ACO1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,mortality/aging	-,Schizophrenia	ICGC,
chr19	50280478	50280478	C	T	intronic	AP2A1	unknown	SNV	-	-	-	3.261e-05	rs764863647	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	no phenotypic analysis	-	ICGC,
chr2	37973124	37973124	C	T	intergenic	CDC42EP3,LINC00211	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20784701	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr8	58528268	58528268	C	A	intergenic	LINC00588,FAM110B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr7	61991375	61991375	C	G	intergenic	NONE,ZNF733P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr3	28172186	28172186	A	T	intergenic	EOMES,CMC1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Altered p53 binding|Microcephaly with polymicrogyria,-	ICGC,
chr2	211459926	211459926	A	T	intronic	CPS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5495970	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging	VACTERL |Neonatal pulmonary hypertension, association with|Necrotizing enterocolitis, in preterm infants, association with|Hyperammonaemia, association with|Carbamoyl phosphate synthetase I deficiency|Altered Nitric oxide production and vascular smooth muscle reactivity|Altered glycine metabolism	COSMIC,ICGC,
chr1	157454813	157454813	T	C	intergenic	ETV3,FCRL5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6004059	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr6	71411518	71411518	C	T	intronic	SMAP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BOCA-UK|1|130|0.00769	-	-	-	-	ICGC,
chr6	99134478	99134478	G	T	intergenic	MIR2113,POU3F2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,integument phenotype	-,-	ICGC,
chr13	28650442	28650442	A	C	intronic	FLT3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Myeloid leukaemia, increased risk, association with	ICGC,
chr5	110650401	110650401	A	G	intronic	CAMK4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	integument phenotype	Azoospermia|Longevity, association with 	ICGC,
chr2	33253466	33253466	G	A	intronic	LTBP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Increased expression |Autism	ICGC,
chr14	85457047	85457047	-	TG	intergenic	NONE,LINC00911	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|2|67|0.02985	-	-	-,-	-,-	ICGC,
chr12	47852619	47852619	C	T	intergenic	PCED1B,RPAP3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr9	43755657	43755657	C	T	ncRNA_intronic	CNTNAP3P2	unknown	SNV	-	-	-	0.0050	rs760365554	-	-	-	-	COSN23905369	-	LAML-KR|2|205|0.00976	-	-	-	-	COSMIC,COSMIC,ICGC,
chr5	97543633	97543633	G	A	intergenic	LINC01340,RGMB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,-	ICGC,
chr5	85565007	85565007	C	T	intergenic	EDIL3,NBPF22P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	immune system phenotype,-	Schizophrenia  ,-	ICGC,
chr4	98560662	98560662	A	T	intronic	STPG2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	-	ICGC,
chr4	128293417	128293417	T	C	intergenic	MIR2054,INTU	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Anorectal malformation	ICGC,
chrX	73984660	73984660	G	A	intronic	KIAA2022	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	Autism spectrum disorder|Intellectual disability with autism spectrum disorder|Intellectual disability, nonsyndromic|Mental retardation, X-linked	ICGC,
chr10	21051794	21051809	GAGAAAAAGAAAACAT	-	intergenic	MIR4675,NEBL	unknown	deletion	-	-	-	0.4706	rs11267892	-	0.512181	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,Cardiomyopathy, dilated|Cardiomyopathy, dilated & endocardial fibroelastosis	ICGC,
chrX	5644421	5644421	A	T	intergenic	LOC101928201,NLGN4X	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	-,Potential protein deficiency|Mental retardation|Kallmann syndrome and ichthyosis|Intellectual disability, short stature & hydrocephaly|Intellectual disability, Kallmann syndrome & ichthyosis|Intellectual disability, behavioural difficulties, ichthyosis & hypogonadotrophic hypogonadism|Intellectual disability, autism spectrum disorder & short stature|Developmental delay, hypospadias & ichthyosis|Developmental delay, autism spectrum disorder, micropenis & ichthyosis|Developmental delay  |Autism, association with|Autism and mental retardation|Autism 	ICGC,
chr19	27792181	27792181	C	T	intergenic	NONE,LINC00662	unknown	SNV	-	-	-	3.324e-05	-	-	-	-	-	COSN23767751	-	ORCA-IN|1|178|0.00562	-	-	-,-	-,-	COSMIC,ICGC,
chr5	44110318	44110318	G	A	intergenic	NNT,FGF10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	cellular phenotype,integument phenotype	Glucocorticoid deficiency ,Tetralogy of Fallot|Orofacial clefting |Lacrimo-auriculo-dento-digital syndrome|Extreme myopia, increased risk|Chronic obstructive pulmonary disease|Aplasia of lacrimal and salivary glands	ICGC,
chr4	181361780	181361780	T	C	intergenic	NONE,LINC00290	unknown	SNV	-	-	-	0.0078	-	-	-	-	-	COSN23889045	-	ESAD-UK|1|301|0.00332,LAML-KR|2|205|0.00976,PBCA-US|1|186|0.00538	-	-	-,-	-,-	COSMIC,ICGC,
chr10	61428788	61428788	G	A	intronic	SLC16A9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr5	23422093	23422093	C	T	intergenic	CDH12,PRDM9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,reproductive system phenotype	Lung cancer, susceptibility to, association with,Altered meiotic recombination hotspot usage|Azoospermia by meiotic arrest, association with |Azoospermia, non-obstructive 	ICGC,
chrX	67565072	67565072	A	G	intronic	OPHN1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23309660	-	MALY-DE|1|241|0.00415	-	-	mortality/aging	Mental retardation, motor impairment & seizures |Mental retardation, seizures and tall stature|Mental retardation, seizures, ataxia, hypotonia|Mental retardation, seizures, hypoplasia & facial dysmorphism|Mental retardation, X-linked|Schizophrenia, childhood onset |Mental retardation syndrome, X-linked|Mental retardation and epilepsy|Mental retardation and cerebellar hypoplasia|Autism spectrum disorder |Cerebellar hypoplasia|Developmental delay  |Intellectual disability & dysmorphic features|Intellectual disability & hippocampal alterations|Intellectual disability, autism & myopathy	COSMIC,ICGC,
chr4	49150554	49150554	T	C	intergenic	CWH43,NONE	unknown	SNV	-	-	-	-	rs547987653	-	0.000199681	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr8	114348187	114348187	G	A	intronic	CSMD3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-	Schizophrenia  |Colorectal cancer 	ICGC,
chr2	225169150	225169150	T	A	intergenic	SERPINE2,FAM124B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25849874	-	EOPC-DE|1|202|0.00495	-	-	reproductive system phenotype,-	-,-	COSMIC,ICGC,
chr5	100459623	100459623	-	T	intergenic	ST8SIA4,SLCO4C1	unknown	insertion	-	-	-	0.0020	-	-	-	-	-	COSN27201790	-	-	-	-	mortality/aging,-	-,-	COSMIC,
chr12	63396672	63396672	C	T	intergenic	PPM1H,AVPR1A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,hematopoietic system phenotype	-,Pair-bonding behaviour, association with|Lower altruistic behaviour in children, association with|Increased blood pressure, association with|Drug use disorder diagnosis, association with|Autism, association with	ICGC,
chr19	32314979	32314979	G	A	intergenic	THEG5,CTC-360P9.3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	96611718	96611718	G	A	intergenic	LOC100996635,LOC101928241	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr8	63472325	63472325	C	T	intronic	NKAIN3	unknown	SNV	-	-	-	0.6759	rs7843547	-	0.645966	-	0.681	COSN25698249	-	EOPC-DE|1|202|0.00495	-	-	-	Dravet syndrome   	COSMIC,ICGC,
chr1	188745219	188745219	G	A	intergenic	PLA2G4A,BRINP3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20860873	-	BRCA-UK|1|141|0.00709,BRCA-EU|1|569|0.00176	-	-	mortality/aging,-	Asthma, association with|Cryptogenic multifocal ulcerating stenosing enteritis|Increased enzyme activity|Prostanoid biosynthesis deficiency,-	COSMIC,ICGC,
chr5	35769050	35769050	T	C	intronic	SPEF2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	-	ICGC,
chr9	139410506	139410506	A	C	exonic	NOTCH1	nonsynonymous	SNV	0.0	1.0	-	-	-	-	-	-	-	COSM4993276	-	-	-	-	integument phenotype	Tetralogy of Fallot |Hypoplastic left heart syndrome|Calcified aortic valve with ascending aortic aneurysm|Bicuspid aortic valve |Aortic valve stenosis, tricuspid, calcific.|Aortic valve stenosis, tricuspid, calcific|Aortic valve disease|Aortic coarctation	COSMIC,COSMIC,
chr2	199163502	199163502	G	A	downstream	LOC101927619	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr1	191734896	191734896	G	C	intergenic	LOC440704,RGS18	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22544423	-	BRCA-EU|1|569|0.00176	-	-	-,no phenotypic analysis	-,Potential protein deficiency	COSMIC,ICGC,
chr4	38538176	38538176	G	A	intergenic	LINC01258,KLF3-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24014264	-	BRCA-FR|1|72|0.01389	-	-	-,-	-,-	COSMIC,ICGC,
chr12	60910165	60910165	A	-	intergenic	SLC16A7,FAM19A2	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	Autism spectrum disorder,-	ICGC,
chr21	23305403	23305403	C	T	intergenic	LINC01425,LOC101927843	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr4	21670549	21670549	G	A	intronic	KCNIP4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9033566	-	OV-AU|1|93|0.01075	-	-	-	Renal cell carcinoma 	COSMIC,ICGC,
chr5	141170218	141170218	G	A	intergenic	ARAP3,PCDH1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype,-	-,-	ICGC,
chr5	149946366	149946366	T	C	intergenic	NDST1,SYNPO	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6867642	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging,behavior/neurological phenotype	Intellectual disability  ,Glomerulosclerosis, focal and segmental	COSMIC,ICGC,
chr8	78098448	78098448	A	T	intergenic	PEX2,PKIA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,normal phenotype	Zellweger syndrome|Refsum disease, infantile|Peroxisome biogenesis disorder|Cerebellar ataxia, autosomal recessive,-	ICGC,
chr11	90863258	90863258	T	G	intergenic	DISC1FP1,FAT3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,vision/eye phenotype	-,Autism spectrum disorder	ICGC,
chr3	194919742	194919742	T	G	intronic	XXYLT1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16374865	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr10	101175792	101175792	A	T	intronic	GOT1	unknown	SNV	-	-	-	0.4621	rs9731375	-	0.404353	-	0.029	-	-	LAML-KR|1|205|0.00488	-	-	-	Aspartate aminotransferase deficiency	ICGC,
chr6	127921084	127921084	C	G	intergenic	C6orf58,THEMIS	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,hematopoietic system phenotype	-,-	ICGC,
chr4	125409623	125409623	G	A	intergenic	LINC01091,LOC101927087	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	78661766	78661766	C	T	intergenic	GIPC2,MGC27382	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr13	77327891	77327892	TA	-	intergenic	LMO7DN,KCTD12	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr21	27942259	27942259	G	A	intronic	CYYR1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr7	1480266	1480266	G	A	exonic	MICALL2	nonsynonymous	SNV	0.032	0.989	2.852e-05	-	rs754921572	1.668e-05	-	-	-	COSM4442228	-	-	-	-	-	-	COSMIC,
chr7	31561341	31561341	T	C	intronic	CCDC129	unknown	SNV	-	-	-	0.0048	rs9918690	-	-	-	0.014	COSN18855068	-	COCA-CN|2|321|0.00623	-	-	-	-	COSMIC,COSMIC,COSMIC,ICGC,
chr3	21359728	21359728	C	T	intergenic	LOC101927829,VENTXP7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,-	-,-	ICGC,
chr6	86586279	86586279	T	C	intergenic	SNHG5,HTR1E	unknown	SNV	-	-	-	0.0081	rs147348604	-	0.0367412	-	0.014	-	-	LAML-KR|1|205|0.00488	-	-	-,-	-,-	ICGC,
chr15	29261147	29261147	-	T	intronic	APBA2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|5|308|0.01623	-	-	mortality/aging	Autism |Schizophrenia	ICGC,
chr4	44941198	44941198	A	G	intergenic	GNPDA2,GABRG1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5060926	-	LINC-JP|1|394|0.00254	-	-	-,-	-,-	COSMIC,ICGC,
chr1	190378705	190378705	T	G	intronic	BRINP3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr16	7400662	7400662	C	T	intronic	RBFOX1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	mortality/aging	Muscular and feet abnormalities|Mental retardation|Epilepsy, rolandic  |Epilepsy|Developmental delay, facial dysmorphism  |Developmental delay and transposition of the great arteries|Developmental delay and diplegia|Developmental delay and craniosynostosis|Developmental delay  |Cardiac defects|Cardiac abnormalities, micrognathia and scoliosis|Autism spectrum disorder|Autism|Attention deficit hyperactivity disorder 	ICGC,
chr5	94512021	94512021	G	A	intronic	MCTP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr3	180998645	180998645	G	T	ncRNA_intronic	SOX2-OT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr18	29290785	29290785	-	CCAC	intergenic	B4GALT6,SLC25A52	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	normal phenotype,-	-,-	ICGC,
chr21	34482736	34482736	A	T	intergenic	OLIG1,LOC101928107	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BOCA-UK|1|130|0.00769	-	-	mortality/aging,-	-,-	ICGC,
chr18	5671903	5671903	T	C	intergenic	EPB41L3,LOC645355	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	mortality/aging,-	Potential protein deficiency,-	ICGC,
chr18	44732162	44732162	C	T	intergenic	IER3IP1,SKOR2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	Microcephaly with simplified gyration, epilepsy & diabetes,-	ICGC,
chr7	100364265	100364265	G	A	exonic	ZAN	unknown	SNV	-	1.0	5.742e-06	3.231e-05	-	-	-	-	-	COSM227041	-	-	-	-	reproductive system phenotype	Autism spectrum disorder|Potential protein deficiency	COSMIC,
chr6	86096306	86096306	A	C	intergenic	TBX18,NT5E	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9915081	-	RECA-EU|1|422|0.00237	-	-	integument phenotype,hematopoietic system phenotype	Autism,Arterial & joint calcifications, symptomatic	COSMIC,ICGC,
chr10	84403872	84403872	T	A	intronic	NRG3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Schizophrenia, association with |Increased ventrolateral PFC activation|Hirschsprung disease  	ICGC,
chr5	86033559	86033559	T	G	intergenic	COX7C,LOC100505878	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25312619	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	COSMIC,ICGC,
chr8	194010	194010	C	T	intronic	ZNF596	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr18	36003525	36003525	C	A	intergenic	MIR4318,LINC00669	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	ICGC,
chr11	9534053	9534053	G	T	exonic	ZNF143	synonymous	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|2|402|0.00498	-	-	reproductive system phenotype	-	ICGC,
chr8	134545277	134545277	C	T	intronic	ST3GAL1	unknown	SNV	-	-	-	6.465e-05	-	-	-	-	-	COSN7666360	-	PACA-CA|1|268|0.00373	-	-	hematopoietic system phenotype	-	COSMIC,ICGC,
chr14	104743575	104743575	A	C	intergenic	KIF26A,C14orf180	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17449360	-	LICA-CN|1|402|0.00249,SKCA-BR|2|100|0.02000	-	-	mortality/aging,-	-,-	COSMIC,ICGC,
chr12	114423799	114423799	G	A	intergenic	RBM19,TBX5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,mortality/aging	-,Atrial septal defects & postaxial hexodactyly|Congenital heart disease |Congenital heart disease.|Holt-Oram syndrome|Holt-Oram syndrome & ulnar-mammary syndrome	ICGC,
chr9	105223765	105223765	C	T	intergenic	GRIN3A,LINC00587	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	vision/eye phenotype,-	Schizophrenia, increased risk |Schizophrenia |Potential protein deficiency,-	ICGC,
chr5	99515402	99515402	G	C	intergenic	CTD-2151A2.1,LOC100133050	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2129079	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr6	100436886	100436886	C	A	intronic	MCHR2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-	-	ICGC,
chr17	80575085	80575085	GG	AA	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr1	22769522	22769522	G	A	intergenic	WNT4,ZBTB40	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	SERKAL syndrome|Rokitansky-Kuster-Hauser syndrome|Renal hypodysplasia|Primary amenorrhea with Mullerian Duct abnormality|Mullerian duct abnormality and hyperandrogenism,Intellectual disability  	ICGC,
chr1	116612327	116612327	C	A	UTR3	SLC22A15	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8888358	-	OV-AU|1|93|0.01075	-	-	-	-	COSMIC,ICGC,
chr8	76052742	76052742	A	G	intergenic	CRISPLD1,CASC9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr8	118519981	118519981	C	T	intergenic	SLC30A8,MED30	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	vision/eye phenotype,mortality/aging	Reduced enhancer activity|Potential protein deficiency|Increased insulin clearance|Higher proinsulin levels, association with|Diabetes, type 2, protection against |Diabetes, type 2, association with|Autoantibody specificity in T1D, association with|Autoantibody specificity in T1D,-	ICGC,
chr7	83737664	83737664	A	-	intronic	SEMA3A	unknown	deletion	-	-	-	0.0005	-	-	-	-	-	COSN27523409	-	BTCA-SG|2|71|0.02817	-	-	mortality/aging	Unexplained cardiac arrest, association with|Short stature & multiple congenital anomalies|Kallmann syndrome|Hirschsprung disease   |Crypt frequency in the iris, association with	COSMIC,ICGC,
chr4	19103156	19103156	T	C	intergenic	LCORL,SLIT2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25657059	-	MALY-DE|1|241|0.00415	-	-	-,mortality/aging	-,Schizophrenia  	COSMIC,ICGC,
chr12	116659747	116659747	T	A	intronic	MED13L	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Intellectual disability, nonsyndromic, no cardiac involvement|Hypotonia, learning difficulties & perimembranous ventricular septal defect|Hypotonia, intellectual disability, conotruncal heart defect & facial anomalies|Congenital heart defect|Colorectal cancer, increased risk, association with |Autism	ICGC,
chr7	92134096	92134096	G	A	exonic	PEX1	nonsynonymous	SNV	0.007	1.0	4.881e-05	-	rs141509344	7.415e-05	-	0.0002	-	COSM4475872	-	-	not_specified	-	-	Zellweger syndrome|Schizophrenia|Refsum disease, infantile|Peroxisome biogenesis disorder|Neonatal adrenoleukodystrophy|Altered gene expression	ClinVar,COSMIC,
chr14	34920361	34920361	T	C	intronic	SPTSSA	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15716440	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr6	141818190	141818190	G	T	intergenic	MIR4465,NMBR	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27822392	-	UTCA-FR|1|20|0.05000	-	-	-,behavior/neurological phenotype	-,-	COSMIC,ICGC,
chr1	32280898	32280898	C	A	exonic	SPOCD1	stopgain	SNV	-	-	-	-	-	-	-	-	-	COSM4752254	-	-	-	-	-	-	COSMIC,
chr6	144335327	144335327	G	A	intronic	PLAGL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Ventricular septal defect, isolated	ICGC,
chr15	66305001	66305001	G	A	intronic	MEGF11	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	vision/eye phenotype	Autism	ICGC,
chr17	40459574	40459574	T	G	intronic	STAT5A	unknown	SNV	-	-	0.0055	-	rs117021530	0.0117	-	-	-	COSM4606541	-	-	-	-	integument phenotype	-	COSMIC,
chr8	111274789	111274789	G	A	intergenic	KCNV1,CSMD3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	behavior/neurological phenotype,-	-,Schizophrenia  |Colorectal cancer 	ICGC,
chr5	150347361	150347361	A	G	intergenic	ZNF300P1,GPX3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15404366	-	OV-AU|1|93|0.01075	-	-	-,mortality/aging	-,-	COSMIC,COSMIC,ICGC,
chr9	113920987	113920987	A	T	intergenic	LPAR1,MIR7702	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Knee osteoarthritis, susceptibility to, association|Increased peripheral blood monocyte counts, association with,-	ICGC,
chr7	137764170	137764170	C	T	intronic	AKR1D1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	3-oxo-Delta(4)-steroid 5beta-reductase deficiency|Cholestatic liver disease in infancy	ICGC,
chr21	29763931	29763931	C	T	intergenic	LINC00314,LINC00161	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr2	156730043	156730043	G	A	intergenic	KCNJ3,AC093375.1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	cardiovascular system phenotype,-	Schizophrenia, association with  ,-	ICGC,
chr11	75971754	75971754	C	T	intergenic	WNT11,PRKRIR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	-,-	ICGC,
chr5	94443474	94443474	G	A	intronic	MCTP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr6	96807216	96807216	C	T	intergenic	FUT9,UFL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	normal phenotype,mortality/aging	-,Schizophrenia	ICGC,
chr14	83654861	83654861	C	T	intergenic	LOC101928559,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr11	31883249	31883249	A	T	ncRNA_intronic	DKFZp686K1684	unknown	SNV	-	-	-	0.3632	rs12363571	-	0.288938	-	0.297	-	-	LAML-KR|1|205|0.00488	-	-	-	-	ICGC,
chr12	66441600	66441600	C	T	intergenic	MIR6074,LLPH	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr4	35414734	35414734	G	A	intergenic	NONE,ARAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr19	24342198	24342198	T	G	intergenic	ZNF254,HAVCR1P1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr8	146259151	146259151	G	A	intergenic	ZNF252P-AS1,C8orf33	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr7	86440516	86440516	C	T	intronic	GRM3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	Schizophrenia, association with|Major depressive disorder, association with	ICGC,
chr6	75335535	75335535	T	G	ncRNA_intronic	LOC101928516	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr20	18175089	18175089	C	T	intergenic	CSRP2BP,ZNF133	unknown	SNV	-	-	-	3.268e-05	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,-	-,Schizophrenia	ICGC,
chr14	26060621	26060621	A	G	intergenic	STXBP6,NOVA1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,mortality/aging	-,-	ICGC,
chr1	57173601	57173601	C	T	UTR3	PRKAA2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype	LDL-cholesterol & total cholesterol levels, association|Potential protein deficiency	ICGC,
chr2	81161438	81161438	G	A	intergenic	CTNNA2,LOC100507201	unknown	SNV	-	-	-	-	rs183709898	-	0.000199681	-	-	-	-	EOPC-DE|1|202|0.00495	-	-	mortality/aging,-	Schizophrenia,-	ICGC,
chr4	92668772	92668772	A	G	intergenic	CCSER1,GRID2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26039554	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,Cerebellar ataxia & tonic upgaze|Cerebellar ataxia and atrophy|Schizophrenia|Spastic paraplegia, complicated	COSMIC,ICGC,
chr1	103546060	103546060	A	G	intronic	COL11A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	mortality/aging	Stickler syndrome, type 2|Stickler syndrome|Robin sequence |Osteoarthritis, early-onset|Marshall syndrome|Marshall / Stickler syndrome|Lumbar disc herniation, association with|Fibrochondrogenesis|Deafness  	ICGC,
chr9	138570378	138570378	G	T	intergenic	LCN9,SOHLH1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,reproductive system phenotype	-,Azoospermia, non-obstructive	ICGC,
chr10	14392530	14392530	C	T	intergenic	FRMD4A,MIR1265	unknown	SNV	-	-	-	0.0010	rs192950249	-	0.000399361	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	159699112	159699112	A	G	intronic	CCNJL	unknown	SNV	-	-	-	0.3070	rs12658758	-	0.380192	-	0.268	-	-	ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488	-	-	-	-	ICGC,
chr8	32068002	32068002	C	A	intronic	NRG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	integument phenotype	Sudden cardiac death, association with|Schizophrenia, association with  |Schizophrenia in African Americans, association with|Prepulse inhibition, association with|Perceptual aberration of schizotypal personality, association with|Increased lateral ventricle volume in schizophrenia|Hirschsprung disease|Developmental delay, hypotonia & microcephaly|Alzheimers disease, association with	ICGC,
chr2	13165653	13165653	A	C	intergenic	LOC100506474,LINC00276	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr3	10184801	10184801	-	TT	intronic	VHL	unknown	insertion	-	-	-	0.1866	rs35658375	-	-	-	-	COSN27507257	-	-	-	-	integument phenotype	Polycythaemia|Polycythaemia & pulmonary hypertension|Polycythaemia, with high epo concentration|Polycythaemia.|Protection against anaemia |VHL syndrome with reduced risk of renal cell carcinoma|Von Hippel-Lindau syndrome|Von Hippel-Lindau syndrome & phaeochromocytoma|Von Hippel-Lindau syndrome, type 2A|Von Hippel-Lindau syndrome, type 2B.|Von Hippel-Lindau syndrome, type I|Von Hippel-Lindau syndrome.|Pheochromocytoma|Phaeochromocytoma.|Phaeochromocytoma and paraganglioma|Bilateral renal tumours |Carotid body paraganglioma/haemangioblastoma of the spinal cord|Chuvash polycythemia|Erythrocytosis|Erythrocytosis & pulmonary arterial hypertension|Haemangioblastoma|Head and neck paragangliomas in von-Hippel-Lindau disease|Increased expression  |Pancreatic cancer|Paraganglioma|Paraganglioma/phaeochromocytoma.|Phaeochromocytoma	COSMIC,
chrX	151092757	151092757	G	T	exonic	MAGEA4	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM5160390	-	-	-	-	-	-	COSMIC,
chr4	145312435	145312435	C	A	intergenic	GYPA,HHIP-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5556361	-	LIRI-JP|1|258|0.00388	-	-	-,-	MNS antigen, absence|M blood type variant|Haemolytic disease of the newborn|Blood group variation|Blood group Erik variant,-	COSMIC,COSMIC,ICGC,
chr8	39666232	39666232	C	T	intronic	ADAM2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	reproductive system phenotype	-	ICGC,
chr7	78496962	78496962	T	A	intronic	MAGI2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN4922342	-	-	-	-	mortality/aging	Seizures|Schizophrenia|Myoclonic epilepsy |Infantile spasms in Williams-Beuren syndrome|Infantile spasms|Developmental delay & microcephaly|Developmental delay  |Developmental and/or speech and/or behavioural problems	COSMIC,
chr7	57464542	57464542	T	-	intergenic	GUSBP10,MIR3147	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr4	35544745	35544745	C	T	intergenic	NONE,ARAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	192695008	192695008	C	T	intergenic	NABP1,SDPR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr10	66162246	66162246	G	A	intergenic	REEP3,ANXA2P3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,-	-,-	ICGC,
chr8	13867638	13867638	C	T	intergenic	C8orf48,SGCZ	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Cervical artery dissection	ICGC,
chr2	221222227	221222227	G	A	intergenic	MIR4268,EPHA4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6170199	-	LIRI-JP|1|258|0.00388	-	-	-,reproductive system phenotype	-,Amyotrophic lateral sclerosis, reduced disease severity	COSMIC,ICGC,
chr3	129294623	129294623	A	G	exonic	PLXND1	nonsynonymous	SNV	0.001	0.997	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Diabetic nephropathy, association with |Truncus arteriosus	ICGC,
chr1	192174440	192174440	T	G	intergenic	RGS18,RGS21	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	no phenotypic analysis,-	Potential protein deficiency,-	ICGC,
chr17	480130	480130	G	A	intronic	VPS53	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23439742	-	EOPC-DE|1|202|0.00495	-	-	mortality/aging	Cerebello-cerebral atrophy, progressive type 2	COSMIC,ICGC,
chr2	130676943	130676943	-	GAA	intergenic	LOC151121,LOC389033	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr5	134910272	134910272	C	T	exonic	CXCL14	nonsynonymous	SNV	0.016	0.995	1.221e-05	-	rs754024461	2.574e-05	-	-	-	COSM228989	-	-	-	-	mortality/aging	-	COSMIC,
chr20	38877951	38877951	T	A	intergenic	LINC01370,MAFB	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15879783	-	PACA-CA|1|268|0.00373	-	-	-,mortality/aging	-,Multicentric carpotarsal osteolysis|Intellectual and developmental disabilities|Cleft lip  	COSMIC,ICGC,
chr3	28236284	28236286	ATT	-	intergenic	EOMES,CMC1	unknown	deletion	-	-	-	0.0021	rs566224686	-	0.00259585	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging,-	Altered p53 binding|Microcephaly with polymicrogyria,-	ICGC,
chr4	112676219	112676219	G	C	intergenic	PITX2,C4orf32	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging,-	Ring dermoid of the cornea|Rieger syndrome|Peter anomaly|Omphalocele, association with |Omphalocele|Iris hypoplasia|Iridogoniodysgenesis syndrome|Craniofacial/acallosal CNS midline defects|Axenfeld-Rieger syndrome|Anterior segment dysgenesis,-	ICGC,
chr10	133370143	133370143	G	A	intergenic	TCERG1L,LINC01164	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN28090906	-	PRAD-CA|1|308|0.00325	-	-	-,-	-,-	COSMIC,ICGC,
chr16	49168050	49168050	C	A	intergenic	N4BP1,CBLN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	no phenotypic analysis,behavior/neurological phenotype	-,-	ICGC,
chr7	11547230	11547230	T	G	intronic	THSD7A	unknown	SNV	-	-	-	0.0003	rs201734776	-	-	-	0.036	COSN20511794	-	COCA-CN|1|321|0.00312,ESAD-UK|1|301|0.00332,MALY-DE|1|241|0.00415	-	-	-	Autism 	COSMIC,ICGC,
chr2	141353829	141353829	A	T	intronic	LRP1B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19607970	-	-	-	-	mortality/aging	Schizophrenia   	COSMIC,
chr19	51828750	51828750	G	A	intronic	IGLON5	unknown	SNV	-	-	0.0004	0.0009	rs199623253	0.0006	0.00299521	0.0012	0.007	COSN16183378	-	PRAD-CA|1|308|0.00325,GACA-JP|1|585|0.00171,BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr4	20578552	20578552	G	A	intronic	SLIT2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging	Schizophrenia  	ICGC,
chr6	69097087	69097087	T	C	intergenic	NONE,BAI3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	-,-	ICGC,
chr15	47606588	47606588	G	T	intronic	SEMA6D	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-AU|1|391|0.00256	-	-	immune system phenotype	Developmental language disorder 	ICGC,
chr6	93789534	93789534	G	A	intergenic	CASC6,EPHA7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,nervous system phenotype	-,Development delay and dysmorphic features|Leukemia, risk, association with 	ICGC,
chrX	147744025	147744025	A	G	exonic	AFF2	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM3558906	SKCM|1|368|0.00272	SKCM-US|1|335|0.00299	-	-	integument phenotype	Premature ovarian failure|Mental retardation  |Intellectual disability, X-linked|Intellectual disability, hypotonia & dysmorphic features|Intellectual disability, ataxia & bilateral inguinal hernia|Intellectual disability & autism|Fragile site, FRAXE|Developmental delay  |Autism spectrum disorder|Autism|Altered expression	COSMIC,COSMIC,TCGA,ICGC,
chr1	176869431	176869431	A	G	intronic	ASTN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	behavior/neurological phenotype	-	ICGC,
chr10	81460574	81460574	A	G	ncRNA_intronic	LOC101060691	unknown	SNV	-	-	-	0.0215	rs452721	-	-	-	-	COSN20419253	-	COCA-CN|1|321|0.00312,SKCA-BR|1|100|0.01000	-	-	-	-	COSMIC,ICGC,
chr2	103048467	103048467	T	G	intronic	IL18RAP	unknown	SNV	-	-	-	0.7910	rs6716784	-	0.69389	-	0.819	COSN6671419	-	ESAD-UK|1|301|0.00332	-	-	immune system phenotype	Celiac disease, association with	COSMIC,ICGC,
chr12	34342774	34342774	C	T	intergenic	ALG10,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr10	125036941	125036941	G	A	intergenic	BUB3,GPR26	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype,behavior/neurological phenotype	Variegated aneuploidy,-	ICGC,
chr1	237828946	237828946	A	T	intronic	RYR2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8449970	-	OV-AU|1|93|0.01075	-	-	mortality/aging	Long QT syndrome|Sudden cardiac death|Sudden cardiac death.|Sudden infant death syndrome|Sudden unexplained death  |Ventricular arrhythmia, in chronic heart failure, association with.|Ventricular tachycardia, polymorphic|Left ventricular noncompaction  |Left ventricular non-compaction.|Catecholaminergic polymorphic ventricular tachycardia.|Catecholaminergic polymorphic ventricular tachycardia|Cardiac arrhythmia|Arrhythmogenic right ventricular dysplasia/cardiomyopathy|Arrhythmogenic right ventricular dysplasia type 2|Arrhythmogenic right ventricular cardiomyopathy, association with|Arrhythmogenic right ventricular cardiomyopathy|Altered channel function	COSMIC,ICGC,
chr8	100600709	100600709	C	T	intronic	VPS13B	unknown	SNV	-	-	-	0.0062	rs183607506	-	0.00139776	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Neutropaenia with retinopathy|Intellectual disability  |Cohen syndrome, cutis verticis gyrata & sensorineural deafness|Cohen syndrome|Autism spectrum disorder|Autism	ICGC,
chr2	1252596	1252596	C	T	intronic	SNTG2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Autism spectrum disorder  |Schizophrenia  	ICGC,
chr2	213432630	213432630	T	C	intergenic	ERBB4,MIR4776-2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22361331	-	BRCA-EU|1|569|0.00176	-	-	integument phenotype,-	Schizophrenia |Oligohydramnios|Intellectual disability, hyperactivity & speech developmental delay|Increased promoter activity|Hepatocellular carcinoma, increased risk, association with|Epileptic encephalopathy, early infantile 3|Breast and colorectal cancer, association with|Bipolar disorder, association with |Bipolar disorder |Autism spectrum disorder  |Amyotrophic lateral sclerosis type 19,-	COSMIC,ICGC,
chr1	96008426	96008426	C	T	intergenic	LOC100996635,LOC101928241	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN10056695	-	RECA-EU|1|422|0.00237	-	-	-,-	-,-	COSMIC,ICGC,
chr2	227691734	227691734	G	A	intergenic	IRS1,RHBDD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Insulin resistance |Insulin resistance, salt sensitivity and non-dipper hypertension|Liver damage in NAFLD|Mammographic breast density, association with|Ovarian cancer, modifier of|Pancreatic cancer, clinical outcome, association with|Polycystic ovary syndrome, association with|Type 2 diabetes, association with|Increased insulin sensitivity, association with|Diabetes, type 2, association with|Birth weight, association with|Breast and/or ovarian cancer, modifier of|Decreased glomerular filtration rate|Diabetes mellitus 2, association with|Diabetes mellitus, type 2|Diabetes, NIDDM |Diabetes, NIDDM, association with|Diabetes, NIDDM, susceptibility to,-	ICGC,
chr10	73630935	73630935	C	T	intergenic	PSAP,CHST3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	mortality/aging,hematopoietic system phenotype	Schizophrenia|Saposin C deficiency|Saposin B deficiency ?|Saposin B deficiency|Saposin A deficiency|Prosaposin deficiency|Metachromatic leukodystrophy|Gaucher disease, atypical,Spondyloepiphyseal dysplasia, Omani type with cardiac involvement|Spondyloepiphyseal dysplasia, Omani type|Lumbar disc degeneration, association with|Larsen syndrome, autosomal recessive|Desbuquois dysplasia, type 2|Chondrodysplasia, CHST3-related|Carbohydrate sulfotransferase 3 deficiency 	ICGC,
chr19	17911590	17911590	A	G	intronic	B3GNT3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype	Non-Hodgkin lymphoma, reduced risk, association with	ICGC,
chr8	32800643	32800643	T	A	intergenic	NRG1,FUT10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Sudden cardiac death, association with|Schizophrenia, association with  |Schizophrenia in African Americans, association with|Prepulse inhibition, association with|Perceptual aberration of schizotypal personality, association with|Increased lateral ventricle volume in schizophrenia|Hirschsprung disease|Developmental delay, hypotonia & microcephaly|Alzheimers disease, association with,-	ICGC,
chr7	136758554	136758554	C	T	ncRNA_intronic	LOC349160	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9831410	-	OV-AU|1|93|0.01075	-	-	-	-	COSMIC,ICGC,
chr13	91965369	91965369	A	T	intergenic	LINC00379,MIR17HG	unknown	SNV	-	-	-	0.0417	rs77674865	-	0.01877	-	0.022	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,Feingold syndrome|Feingold syndrome 2|Post-axial polydactyly type A, overgrowth, facial dysmorphisms & autism	ICGC,
chr7	147868043	147868051	ATCTATGAG	-	ncRNA_intronic	MIR548T	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	-	-	ICGC,
chr17	21751836	21751836	-	AAAAG	intergenic	C17orf51,FAM27L	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,Glaucoma, primary open angle 	ICGC,
chr10	103195743	103195743	C	T	intronic	BTRC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Split hand/foot malformation 3|Hepatocellular carcinoma, reduced risk, association with	ICGC,
chr7	57486136	57486136	C	T	intergenic	MIR3147,ZNF716	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr7	45462639	45462639	C	T	intergenic	RAMP3,ADCY1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	growth/size phenotype,integument phenotype	-,-	ICGC,
chr12	88309405	88309405	G	A	intergenic	MKRN9P,C12orf50	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	92171544	92171544	A	G	intergenic	ACTR3BP2,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN18982729	-	CLLE-ES|1|510|0.00196	-	-	-,-	-,-	COSMIC,ICGC,
chr20	54388351	54388351	G	C	intergenic	LINC01441,CBLN4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-UK|1|141|0.00709	-	-	-,normal phenotype	-,-	ICGC,
chr19	1514530	1514530	G	A	intergenic	ADAMTSL5,PLK5	unknown	SNV	-	-	-	0.0001	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr11	17663297	17663297	C	T	intronic	OTOG	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	reproductive system phenotype	Hearing impairment, nonsyndromic	ICGC,
chr6	166291176	166291176	T	C	intergenic	PDE10A,LINC00473	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2152991	-	LIRI-JP|1|258|0.00388	-	-	behavior/neurological phenotype,-	-,-	COSMIC,ICGC,
chr3	36849886	36849886	G	A	intergenic	DCLK3,TRANK1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr1	191489438	191489438	G	A	intergenic	LOC440704,RGS18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,no phenotypic analysis	-,Potential protein deficiency	ICGC,
chr19	39234372	39234372	-	CC	intronic	CAPN12	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN23111124	-	-	-	-	-	Focal segmental glomerulosclerosis 	COSMIC,
chr3	150378858	150378858	T	C	intronic	ERICH6	unknown	SNV	-	-	-	0.4214	rs6773558	-	0.476238	-	0.536	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr21	16774398	16774398	C	T	intergenic	NRIP1,USP25	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	reproductive system phenotype,hematopoietic system phenotype	Lung cancer, susceptibility to, association with,-	ICGC,
chr4	21530720	21530720	G	A	intronic	KCNIP4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-	Renal cell carcinoma 	ICGC,
chr20	19285180	19285180	C	T	intronic	SLC24A3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr9	137092593	137092593	C	T	intergenic	RNU6ATAC,RXRA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,integument phenotype	-,-	ICGC,
chr2	123655656	123655656	C	T	intergenic	TSN,CNTNAP5	unknown	SNV	-	-	-	0.0002	rs564295633	-	0.000199681	-	-	-	-	BOCA-UK|1|130|0.00769	-	-	hematopoietic system phenotype,-	-,Autism	ICGC,
chr12	16737125	16737125	G	A	intronic	LMO3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|2|183|0.01093	-	-	mortality/aging	-	ICGC,
chr4	26324001	26324001	G	A	intronic	RBPJ	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	integument phenotype	Adams-Oliver syndrome|Proximal 4p deletion syndrome and epilepsy	ICGC,
chr17	65058269	65058269	-	CTA	intergenic	CACNG1,HELZ	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	muscle phenotype,normal phenotype	-,-	ICGC,
chr15	100618425	100618425	T	C	intronic	ADAMTS17	unknown	SNV	-	-	-	-	rs28874978	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Weill-Marchesani-like syndrome|Spherophakia with short stature|Short stature|Schizophrenia  	ICGC,
chr12	79376869	79376869	T	-	intronic	SYT1	unknown	deletion	-	-	-	0.0771	rs202237863	-	0.108826	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	mortality/aging	-	ICGC,
chr15	98995102	98995102	C	A	exonic	FAM169B	stopgain	SNV	-	-	-	-	-	-	-	-	-	COSM6522406	-	-	-	-	-	-	COSMIC,
chr7	86892010	86892010	T	G	intergenic	TMEM243,TP53TG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr5	86668152	86668152	C	T	intronic	RASA1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	mortality/aging	Pial fistulae & intracranial AV fistula|Parkes-Weber syndrome with lymphatic abnormalities|Capillary malformations, multifocal|Capillary malformations|Capillary malformation-arteriovenous malformation|Capillary malformation - arteriovenous malformation|Arteriovenous malformation |Arteriovenous fistula|5q14.3 neurocutaneous syndrome|Sturge-Weber syndrome	ICGC,
chr12	1868037	1868037	A	G	intronic	ADIPOR2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7320780	-	PACA-AU|1|391|0.00256	-	-	reproductive system phenotype	-	COSMIC,ICGC,
chr8	129457902	129457902	G	A	ncRNA_intronic	LINC00824	unknown	SNV	-	-	-	0.6560	rs12547662	-	0.507188	-	0.493	-	-	LAML-KR|2|205|0.00976	-	-	-	-	ICGC,
chr18	43016897	43016897	G	A	intronic	SLC14A2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	reproductive system phenotype	Lower blood pressure in males, association with|Higher blood pressure in males, association with	ICGC,
chr11	27776111	27776111	C	T	intergenic	BDNF,KIF18A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Parkinson disease, association with|Obsessive-compulsive disorder, association with|Obesity, in WAGR|Obesity and neurobehavioural problems |Mood disorder, association with|Major depressive disorder, remission in older subjects|Major depressive disorder, in men, association with|Major depressive disorder, association with|Lower bone mineral density, association with|Lithium response in bipolar disorder, association with|Poor visuospatial/constructional performance, association with|Psychiatric disorders |Psychotic feature and suicidal behavior in major depression, association with|Visual sensory memory processes, association with |Spontaneous dyskinesia, in non-clinical psychosis, association with.|Severe asthma, association with|Rett syndrome disease modifier|Regular smoking, increased risk, association with|Reduced promoter activity|Reduced parahippocampal and amygdala volume, association with|Reduced hippocampal volumes, association with|Reduced grey matter content in brain structures, association with|Reduced BDNF protein levels in amniotic fluid, association with|Later age of onset of OCD in females, association|Increased BDNF serum concentration, association with|Hyperphagia and severe obesity|Autism, association with|Autism spectrum disorder|Attention deficit hyperactivity disorder, association with.|Anxiety-related personality traits, association with|Anxiety-related behavior, association with|Alzheimer's disease-related depression, association with|Alzheimer disease, sporadic late onset, association with|Alzheimer disease, association with|Alzheimer disease-related depression, association with|Alzheimer disease in APOE4 non-carriers, association|Bipolar disorder, association with|Bipolar disorder, susceptibility, association with|Blood pressure, association with|Geriatric depression, association with.|Epilepsy in Rett syndrome, earlier age of onset, association with|Endometriosis, stage III-IV, association with.|Depression, in Alzheimer disease, association with.|Depression, association with|Cognitive and motor function effects on chronic mercury exposure, association with|Childhood-onset mood disorder / EEG asymmetry|Central hypoventilation syndrome |Bulimia, association with|BMI in women, association with,Adult height, association with|Schizophrenia	ICGC,
chr1	218532058	218532058	T	-	intronic	TGFB2	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging	Breast cancer, progression, association with|Loeys-Dietz syndrome 4|Thoracic aortic aneurysms and dissections	ICGC,
chr18	46105100	46105100	C	T	intronic	CTIF	unknown	SNV	-	-	-	3.229e-05	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr14	23858429	23858429	C	T	intronic	MYH6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Sick sinus syndrome, increased risk, association with|Potential protein deficiency|Congenital heart defects|Cardiomyopathy, hypertrophic|Cardiomyopathy, dilated |Cardiac dysrhythmia|Atrial septal defect|Atrial fibrillation	ICGC,
chr9	138384925	138384925	C	T	intergenic	PPP1R26,C9orf116	unknown	SNV	-	-	-	3.229e-05	-	-	-	-	-	COSN1375202	-	LINC-JP|1|394|0.00254	-	-	-,-	-,-	COSMIC,COSMIC,ICGC,
chr13	81584812	81584812	C	T	intergenic	SPRY2,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493,MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Cleft lip ,-	ICGC,
chr7	130104185	130104185	C	G	intergenic	CEP41,MEST	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9829059	-	OV-AU|1|93|0.01075	-	-	integument phenotype,mortality/aging	Joubert syndrome|Autism spectrum disorder ,Silver-Russell syndrome features	COSMIC,ICGC,
chr3	96827914	96827914	G	A	intronic	EPHA6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	Alzheimer disease  	ICGC,
chr19	3963595	3963595	T	G	intronic	DAPK3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	-	Congenital heart disease 	ICGC,
chr12	58123533	58123533	C	A	exonic	AGAP2	nonsynonymous	SNV	0.027	0.951	-	-	-	-	-	-	-	COSM33433	-	-	-	-	integument phenotype	-	COSMIC,
chr4	16891418	16891418	A	C	intronic	LDB2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	normal phenotype	-	ICGC,
chr3	78061635	78061635	T	C	intergenic	ROBO2,ROBO1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,mortality/aging	Autism spectrum disorder  |Urinary tract anomalies|Vesicoureteral reflux,Developmental dyslexia 	ICGC,
chr16	23223951	23223951	G	T	intronic	SCNN1G	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8495111	-	OV-AU|1|93|0.01075	-	-	integument phenotype	Pseudohypoaldosteronism 1|Potential protein deficiency|Liddle syndrome.|Liddle syndrome|Hypertension|Gain of function|Decreased systolic and pulse pressure, association|Bronchiectasis	COSMIC,ICGC,
chr2	16126615	16126615	G	A	intergenic	MYCN,FAM49A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21126823	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging,-	Neuroblastoma|Feingold syndrome, hearing impairment, microcephaly & digit abnormalities|Feingold syndrome|Bilateral nephroblastomatosis,-	COSMIC,ICGC,
chr8	58585893	58585893	C	A	intergenic	LINC00588,FAM110B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr14	98922298	98922298	C	T	intergenic	C14orf64,C14orf177	unknown	SNV	-	-	-	3.229e-05	rs750824692	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr9	121669514	121669514	C	A	intergenic	TLR4,BRINP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	integument phenotype,-	Phenotypic variation in haemochromatosis, association with|Periodontitis, association with|Pancreatic necrotic infection, association with|Negative association with FMF|Nasopharyngeal cancer, increased risk, association with|Moraxella catarrhalis infection, increased risk, association with|Metabolic syndrome, association with|Meningococcal disease susceptibility|Meningococcal disease mortality|Lung function, association with|Lower left ventricular mass, in hypertensive women, association|Increased risk of cirrhosis in chronic hepatitis C ?|Increased liver and body fat, association with|Potential protein deficiency|Preterm birth and premature rupture of membranes, association with|Tuberculosis susceptibility, in HIV-infected patients, association|Serious infection, in HIV-1 patients, association with|Retinitis pigmentosa |Reduced LPS-induced IL-12 secretion, association with|Reduced expression|Pulmonary tuberculosis, susceptibility and severity, association|Pulmonary tuberculosis, severity, association with|Protection from urinary tract infection, association with|Protection against being overweight|Prostate cancer, increased risk|Prostate cancer risk, association with|Primary open-angle, normal-tension, and exfoliation glaucoma, association with.|Typhoid infection, increased risk, association with|Increased IL-4 secretion response to measles vaccination, association|Cutaneous leishmaniasis, association with|Crohn's disease, association with|Colorectal cancer, association with.|Colorectal cancer risk, association with|Cervical cancer, early stage, association with|Cancer, increased risk, association with|Bronchopulmonary Dysplasia, infant, association with|Breast cancer, association with.|Behcet disease, protection against, association with|Altered monocyte receptor levels|Acute pyelonephritis, reduced risk in adults, association with|Acute pyelonephritis, in children, association with|Diabetes, type 2, protection against, association with|Digestive system cancer, increased risk & prostate cancer, protection against, association with|Emphysema, association with|Increased expression|Helicobacter pylori-related gastric atrophy, association with|HBV recurrence after liver transplantation, association with|Guillain-Barré syndrome, association with|Guillain-Barré syndrome, AMAN sub-type, association with|Gastritis, association with|Gastric carcinoma, association with|Endometriosis, association with|Endotoxin hyporesponsiveness, association with|Extra-intestinal manifestations in Crohn's disease, association with.|Gastric adenocarcinoma, association with|Gastric cancer, association with,-	ICGC,
chrX	121908758	121908758	C	T	intergenic	GLUD2,GRIA3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CN|1|65|0.01538	-	-	-,integument phenotype	Parkinson disease, earlier onset, association with,Mental retardation, X-linked|Intellectual disability, X-linked with facial dysmorphism|Intellectual disability, X-linked|Autism spectrum disorder	ICGC,
chr11	112552601	112552601	C	A	intergenic	LOC387810,LOC101928847	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chrX	37649368	37649368	A	G	intronic	CYBB	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25472083	-	MALY-DE|1|241|0.00415	-	-	mortality/aging	Primary immunodeficiency disease|Mycobacteriosis, atypical|Malaria, severe, protection against, association with|Chronic granulomatous disease and McLeod phenotype|Chronic granulomatous disease	COSMIC,ICGC,
chr1	57614427	57614427	A	G	intronic	DAB1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25469567	-	MALY-DE|1|241|0.00415	-	-	mortality/aging	Syndromic cleft lip & palate	COSMIC,ICGC,
chr1	11774333	11774333	C	T	intronic	DRAXIN	unknown	SNV	-	-	-	9.691e-05	rs537531895	-	0.000199681	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	nervous system phenotype	-	ICGC,
chrX	85204983	85204983	-	AT	intronic	CHM	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN27341375	-	-	-	-	mortality/aging	Choroideraemia|Potential protein deficiency	COSMIC,
chr8	116486513	116486513	C	T	intronic	TRPS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	integument phenotype	Tricho-rhino-phalangeal syndrome with supernumerary teeth|Tricho-rhino-phalangeal syndrome III|Tricho-rhino-phalangeal syndrome I|Tricho-rhino-phalangeal syndrome|Infantile scoliosis & developmental delay|Femoral neck width, association with|Ambras syndrome	ICGC,
chr13	65383758	65383758	G	A	intergenic	OR7E156P,PCDH9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	30641246	30641246	A	G	intergenic	LOC101929406,MATN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,skeleton phenotype	-,-	ICGC,
chrX	61957467	61957467	T	C	intergenic	NONE,SPIN4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17470496	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	COSMIC,ICGC,
chr1	4252994	4252994	A	T	intergenic	LINC01346,LOC284661	unknown	SNV	-	-	-	0.3165	rs10915467	-	0.32528	-	0.341	COSN6456589	-	LAML-KR|1|205|0.00488	-	-	-,-	-,-	COSMIC,ICGC,
chr4	136748440	136748440	C	T	intergenic	PABPC4L,LINC00613	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Autism spectrum disorder  ,-	ICGC,
chr3	9580102	9580102	C	T	intronic	LHFPL4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr3	51240240	51240240	G	A	intronic	DOCK3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	immune system phenotype	Attention deficit hyperactivity disorder	ICGC,
chr4	89719379	89719379	T	C	intronic	FAM13A	unknown	SNV	-	-	-	0.3316	rs1377289	-	0.335064	-	0.377	-	-	ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488	-	-	-	-	ICGC,
chr18	37389725	37389725	T	G	intergenic	LINC00669,LOC101927900	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr5	112179721	112179721	T	C	exonic	APC	synonymous	SNV	-	-	4.262e-06	-	-	-	-	-	-	-	-	-	not_specified	-	integument phenotype	Desmoid tumour|Desmoid tumours|Extra nuchal-type fibroma, association with|Gardner syndrome.|Hepatoblastoma|Increased bone mineral density|Juvenile polyposis coli|Leukaemia risk|Multiple adenomas|Neoplasia, multifocal hepatic.|Pilomatrixoma|Potential protein deficiency|Thyroid cancer|Colorectal cancer?|Colorectal cancer, severe phenotype, association with |Adenomatous polyposis coli|Adenomatous polyposis coli and CHRPE|Adenomatous polyposis coli, association with |Adenomatous polyposis coli, attenuated|Adenomatous polyposis coli, attenuated.|Adenomatous polyposis coli.|Adenomatous polyposis with epiretinal membrane|Advanced distal adenoma, in a high-fat diet, association with|APC with desmoid tumour|Colorectal adenoma|Colorectal cancer|Colorectal cancer, non-polyposis|Colorectal cancer, predisposition to, association|Turcot syndrome.	ClinVar,
chr4	114360811	114360811	G	A	intergenic	ANK2,CAMK2D	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,cardiovascular system phenotype	Long QT syndrome, drug-associated|Long QT syndrome|Cardiac arrhythmia|Autism ,Hyperinsulism	ICGC,
chr6	48834607	48834607	G	A	intergenic	PTCHD4,MUT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,mortality/aging	-,Methylmalonic aciduria	ICGC,
chrX	142207154	142207154	A	G	intergenic	SPANXN4,SPANXN3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr6	69911237	69911237	C	T	intronic	BAI3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr8	70715836	70715836	T	G	intronic	SLCO5A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	-	ICGC,
chr18	14930346	14930346	G	A	intergenic	ANKRD30B,LINC01443	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr12	84896267	84896267	T	G	intergenic	TMTC2,SLC6A15	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,reproductive system phenotype	-,Increased maximal 3H proline uptake	ICGC,
chr8	5627292	5627292	T	A	intergenic	CSMD1,LOC100287015	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Schizophrenia, association with |Hyperinsulinism|Autism|Attention deficit hyperactivity disorder ,-	ICGC,
chr7	158578159	158578159	-	CAAA	intronic	ESYT2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	-	ICGC,
chr4	39678042	39678042	C	T	intergenic	SMIM14,UBE2K	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,cellular phenotype	-,-	ICGC,
chr2	3582180	3582180	G	A	intergenic	ADI1,RNASEH1	unknown	SNV	-	-	-	0.0850	rs75135474	-	0.0644968	-	0.152	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,-	ICGC,
chr8	111210468	111210469	AG	-	intergenic	KCNV1,CSMD3	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	behavior/neurological phenotype,-	-,Schizophrenia  |Colorectal cancer 	ICGC,
chr8	134733407	134733407	-	C	intergenic	ST3GAL1,ZFAT	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	hematopoietic system phenotype,mortality/aging	-,Autoimmune thyroid disease, association with	ICGC,
chr7	28610045	28610045	C	A	exonic	CREB5	nonsynonymous	SNV	0.441	0.079	0	-	-	-	-	-	-	-	LUAD|1|543|0.00184	-	-	-	integument phenotype	-	TCGA,
chr9	120759401	120759403	CCT	-	intergenic	TLR4,BRINP1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	integument phenotype,-	Phenotypic variation in haemochromatosis, association with|Periodontitis, association with|Pancreatic necrotic infection, association with|Negative association with FMF|Nasopharyngeal cancer, increased risk, association with|Moraxella catarrhalis infection, increased risk, association with|Metabolic syndrome, association with|Meningococcal disease susceptibility|Meningococcal disease mortality|Lung function, association with|Lower left ventricular mass, in hypertensive women, association|Increased risk of cirrhosis in chronic hepatitis C ?|Increased liver and body fat, association with|Potential protein deficiency|Preterm birth and premature rupture of membranes, association with|Tuberculosis susceptibility, in HIV-infected patients, association|Serious infection, in HIV-1 patients, association with|Retinitis pigmentosa |Reduced LPS-induced IL-12 secretion, association with|Reduced expression|Pulmonary tuberculosis, susceptibility and severity, association|Pulmonary tuberculosis, severity, association with|Protection from urinary tract infection, association with|Protection against being overweight|Prostate cancer, increased risk|Prostate cancer risk, association with|Primary open-angle, normal-tension, and exfoliation glaucoma, association with.|Typhoid infection, increased risk, association with|Increased IL-4 secretion response to measles vaccination, association|Cutaneous leishmaniasis, association with|Crohn's disease, association with|Colorectal cancer, association with.|Colorectal cancer risk, association with|Cervical cancer, early stage, association with|Cancer, increased risk, association with|Bronchopulmonary Dysplasia, infant, association with|Breast cancer, association with.|Behcet disease, protection against, association with|Altered monocyte receptor levels|Acute pyelonephritis, reduced risk in adults, association with|Acute pyelonephritis, in children, association with|Diabetes, type 2, protection against, association with|Digestive system cancer, increased risk & prostate cancer, protection against, association with|Emphysema, association with|Increased expression|Helicobacter pylori-related gastric atrophy, association with|HBV recurrence after liver transplantation, association with|Guillain-Barré syndrome, association with|Guillain-Barré syndrome, AMAN sub-type, association with|Gastritis, association with|Gastric carcinoma, association with|Endometriosis, association with|Endotoxin hyporesponsiveness, association with|Extra-intestinal manifestations in Crohn's disease, association with.|Gastric adenocarcinoma, association with|Gastric cancer, association with,-	ICGC,
chr7	57480744	57480744	A	T	intergenic	MIR3147,ZNF716	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr3	17929853	17929853	G	A	intergenic	TBC1D5,LOC339862	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	72608985	72608985	TT	CC	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr3	131830912	131830912	A	G	intergenic	CPNE4,ACPP	unknown	SNV	-	-	-	0.3951	rs11922031	-	0.354633	-	0.420	COSN14834653	-	-	-	-	-,integument phenotype	-,Potential protein deficiency	COSMIC,
chr14	21498863	21498863	T	A	exonic	TPPP2	nonsynonymous	SNV	0.002	0.966	-	-	-	-	-	-	-	-	LIHC|1|373|0.00268	-	-	-	-	-	TCGA,
chr4	101436369	101436369	T	C	intronic	EMCN	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-	-	ICGC,
chr10	37228771	37228771	G	T	intergenic	LINC01452,ANKRD30A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	-,-	ICGC,
chr1	121137933	121137933	C	T	ncRNA_intronic	SRGAP2-AS1	unknown	SNV	-	-	-	0.0008	-	-	-	-	-	COSN18871901	-	-	-	-	-	-	COSMIC,
chr2	228540144	228540144	G	A	intergenic	C2orf83,SLC19A3	unknown	SNV	-	-	-	0.1073	rs73088853	-	0.121605	-	0.123	COSN25198437	-	MALY-DE|1|241|0.00415	-	-	-,mortality/aging	-,Wernicke's-like encephalopathy|Thiamine transporter-2 deficiency.|Leigh syndrome, early-childhood fatal|Epileptic spasms, psychomotor retardation & brain MRI findings|Encephalopathy, early-infantile, lethal|Basal ganglia disease, biotin-responsive|Alcohol dependence, susceptibility to	COSMIC,ICGC,
chr1	191032518	191032518	T	C	intergenic	LOC440704,RGS18	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21157045	-	BRCA-EU|1|569|0.00176	-	-	-,no phenotypic analysis	-,Potential protein deficiency	COSMIC,ICGC,
chr3	126752858	126752858	T	C	exonic	PLXNA1	stoploss	SNV	-	-	-	-	-	-	-	-	-	COSM6379464	-	THCA-CN|2|50|0.04000	-	-	hematopoietic system phenotype	Atrial septal defect |Schizophrenia	COSMIC,ICGC,
chr8	70092967	70092967	A	G	intergenic	LOC100505718,LOC100505739	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	ICGC,
chr17	13559397	13559397	C	T	intergenic	HS3ST3A1,CDRT15P1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	ICGC,
chr17	31659374	31659374	T	C	intronic	ASIC2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	taste/olfaction phenotype	Dyslexia 	ICGC,
chr4	39829860	39829860	T	A	intronic	PDS5A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25581699	-	MALY-DE|1|241|0.00415	-	-	mortality/aging	-	COSMIC,ICGC,
chr7	67228624	67228624	C	G	intergenic	LINC01372,LOC102723427	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr3	55290413	55290413	T	G	intergenic	CACNA2D3,WNT5A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,mortality/aging	Autism ,Robinow syndrome, autosomal dominant	ICGC,
chr17	68633779	68633779	C	T	intergenic	KCNJ2,CASC17	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538,MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Long QT syndrome|Long QT syndrome.|Periodic paralysis|Short QT syndrome|Short QT syndrome 3|Sudden cardiac death  |Ventricular tachycardia|Catecholaminergic polymorphic ventricular tachycardia.|Atrial fibrillation.|Andersen syndrome|Andersen syndrome & catecholaminergic polymorphic ventricular tachycardia mimickry|Andersen-Tawil syndrome|Andersen-Tawil syndrome, without cardiac involvement|Andersen-Tawil syndrome.|Arrhythmia|Atrial fibrillation,-	ICGC,
chrX	90194901	90194901	-	T	intergenic	TGIF2LX,PABPC5-AS1	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN25211458	-	-	-	-	-,-	-,-	COSMIC,
chr21	24972867	24972867	T	A	intergenic	D21S2088E,LOC101927869	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17210206	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	COSMIC,ICGC,
chr5	25059728	25059728	G	A	intergenic	LOC340107,CDH9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chrX	5404533	5404533	G	T	intergenic	LOC101928201,NLGN4X	unknown	SNV	-	-	-	0	-	-	-	-	-	COSN25492012	-	MALY-DE|1|241|0.00415	-	-	-,-	-,Potential protein deficiency|Mental retardation|Kallmann syndrome and ichthyosis|Intellectual disability, short stature & hydrocephaly|Intellectual disability, Kallmann syndrome & ichthyosis|Intellectual disability, behavioural difficulties, ichthyosis & hypogonadotrophic hypogonadism|Intellectual disability, autism spectrum disorder & short stature|Developmental delay, hypospadias & ichthyosis|Developmental delay, autism spectrum disorder, micropenis & ichthyosis|Developmental delay  |Autism, association with|Autism and mental retardation|Autism 	COSMIC,ICGC,
chr4	143809977	143809977	C	A	intergenic	INPP4B,USP38	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26523445	-	LICA-CN|1|402|0.00249	-	-	hematopoietic system phenotype,-	-,-	COSMIC,ICGC,
chr5	135972189	135972189	G	A	intergenic	TRPC7,SPOCK1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	vision/eye phenotype,normal phenotype	-,Developmental delay & microcephaly	ICGC,
chr10	70227376	70227376	C	G	intronic	DNA2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	Seckel syndrome|Mitochondrial DNA instability	ICGC,
chr3	75722591	75722591	A	C	ncRNA_intronic	LINC00960	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr6	34188905	34188905	T	C	intergenic	GRM4,HMGA1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	behavior/neurological phenotype,hematopoietic system phenotype	-,Metabolic syndrome, increased risk|Diabetes mellitus, type 2, association with|Diabetes mellitus, type 2	ICGC,
chr5	64504171	64504171	G	A	intronic	ADAMTS6	unknown	SNV	-	-	-	0.0010	rs79863513	-	0.00319489	-	-	-	-	LAML-KR|1|205|0.00488	-	-	-	Schizophrenia	ICGC,
chrX	66238956	66238956	C	T	intergenic	EDA2R,AR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	normal phenotype,integument phenotype	Hypohidrotic ectodermal dysplasia|Mental retardation, X-linked ,Infertility, idiopathic|Infertility, male|Premature ovarian failure |Primary amenorrhea|Prostate cancer |Prostate cancer, increased risk, association|Pseudohermaphroditism, male|Reifenstein syndrome|Spino-bulbar muscular atrophy (Kennedy disease)|Testicular dysgenesis syndrome|Urothelial carcinoma, association with|Uterine leiomyomas, association with|Very late onset of muscle weakness|Visceral adiposity and hypertension|Hypospadias.|Hypospadias, increased risk|Hypospadias|46,XY complete androgen insensitivity|Alzheimer disease, association with|Androgen insensitivity syndrome|Androgen insensitivity syndrome & Leydig cell hyperplasia|Androgen insensitivity syndrome, partial|Androgen insensitivity syndrome, partial.|Androgenetic alopecia, reduced risk, association with|Autism spectrum disorder, in females, association with|Autism spectrum disorder, protection against, in males, association with|Azoospermia, hypergonadotropic |Breast cancer, male|Defective spermatogenesis|Disorder of sex development  |Endometriosis, association with   	ICGC,
chr16	64137395	64137395	A	C	intergenic	NONE,CDH11	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7266849	-	ESAD-UK|2|301|0.00664	-	-	-,integument phenotype	-,-	COSMIC,ICGC,
chr4	114989910	114989910	A	C	intergenic	ARSJ,UGT8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,mortality/aging	-,Musical ability, association with	ICGC,
chr5	12067124	12067124	T	C	intergenic	CTNND2,LINC01194	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,-	Schizophrenia  |Lennox-Gastaut syndrome |Autism spectrum disorder|Anorectal malformation|Altered localisation,-	ICGC,
chr1	245301019	245301019	C	T	intergenic	EFCAB2,KIF26B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26788419	-	PRAD-FR|1|25|0.04000	-	-	-,mortality/aging	-,-	COSMIC,ICGC,
chr1	164473479	164473479	C	T	intergenic	LOC100422212,PBX1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Schizophrenia	ICGC,
chr12	55688074	55688074	A	C	exonic	OR6C6	stoploss	SNV	-	-	-	-	-	-	-	-	-	COSM4573034	-	-	-	-	-	-	COSMIC,
chr7	15735403	15735403	G	A	ncRNA_exonic	MEOX2-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-	-	ICGC,
chr6	95995696	95995696	A	C	intergenic	TSG1,MANEA-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr1	190278498	190278498	T	C	intronic	BRINP3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9054205	-	RECA-EU|1|422|0.00237	-	-	-	-	COSMIC,ICGC,
chr1	106807592	106807592	C	T	intergenic	NONE,PRMT6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr9	69820776	69820776	A	G	intergenic	LOC101928381,FOXD4L5	unknown	SNV	-	-	-	0.0274	rs36186669	-	-	-	-	COSN14559430	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	COSMIC,ICGC,
chr1	101001274	101001274	-	A	intergenic	CDC14A,GPR88	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,no phenotypic analysis	-,-	ICGC,
chr7	54646105	54646105	C	T	intergenic	VSTM2A-OT1,SEC61G	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	176144347	176144347	G	A	intergenic	ADAM29,GPM6A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|3|183|0.01639	-	-	-,reproductive system phenotype	-,Claustrophobia, association with	ICGC,
chr10	18659449	18659449	G	A	intronic	CACNB2	unknown	SNV	-	-	-	6.458e-05	rs534735658	-	0.000199681	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Schizophrenia  |Rapid ventricular tachycardia & intraventricular conduction delay|Early repolarization syndrome|Cardiac arrhythmia|Brugada syndrome (shorter-than-normal QT interval)|Brugada syndrome|Aortic regurgutation|Altered function|Ventricular fibrillation, idiopathic	ICGC,
chr3	106240668	106240668	G	A	intergenic	CBLB,LINC00882	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27132206	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,-	Diabetes, type 1,-	COSMIC,ICGC,
chr16	20453129	20453129	C	T	downstream	ACSM5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr13	73555390	73555390	A	-	intronic	PIBF1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-	Short stature	ICGC,
chr8	115159449	115159449	G	T	intergenic	CSMD3,TRPS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17303164	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	Schizophrenia  |Colorectal cancer ,Tricho-rhino-phalangeal syndrome with supernumerary teeth|Tricho-rhino-phalangeal syndrome III|Tricho-rhino-phalangeal syndrome I|Tricho-rhino-phalangeal syndrome|Infantile scoliosis & developmental delay|Femoral neck width, association with|Ambras syndrome	COSMIC,ICGC,
chr3	35534578	35534578	G	A	intergenic	LOC101928135,ARPP21	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-,nervous system phenotype	-,-	ICGC,
chr15	23053725	23053725	G	A	intronic	NIPA1	unknown	SNV	-	-	-	0.2822	rs11638565	-	0.260783	-	0.268	-	-	LAML-KR|1|205|0.00488	-	-	-	Spastic paraplegia, autosomal dominant|Spastic paraplegia with peripheral neuropathy|Autism spectrum disorder|Angelman syndrome|Amyotrophic lateral sclerosis, susceptibility to, association with|Amyotrophic lateral sclerosis  	ICGC,
chr4	168777242	168777242	T	G	intergenic	SPOCK3,ANXA10	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN14891553	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	COSMIC,ICGC,
chr4	28095369	28095369	-	TCTA	intergenic	STIM2,MIR4275	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	integument phenotype,-	-,-	ICGC,
chr22	37198637	37198637	C	A	intronic	PVALB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	-	ICGC,
chr1	209280313	209280313	C	-	intergenic	PLXNA2,MIR205HG	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	vision/eye phenotype,-	Tetralogy of Fallot,-	ICGC,
chr18	69395079	69395079	A	T	intergenic	LOC100505776,CBLN2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,behavior/neurological phenotype	-,-	ICGC,
chr13	78857501	78857501	C	T	ncRNA_intronic	RNF219-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr6	138409587	138409587	C	T	downstream	PERP	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	-	ICGC,
chr3	79689476	79689477	CT	-	intronic	ROBO1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	mortality/aging	Developmental dyslexia 	ICGC,
chr16	87027195	87027195	C	T	intergenic	FOXL1,LOC101928708	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,-	Hypoplastic left heart syndrome,-	ICGC,
chr3	117457666	117457666	T	G	intergenic	LINC00901,IGSF11	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr13	49132856	49132856	T	C	intergenic	RCBTB2,LINC00462	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7403462	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	COSMIC,ICGC,
chr7	30857718	30857718	C	T	ncRNA_intronic	INMT-FAM188B	unknown	SNV	-	-	-	-	rs566440520	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr9	1325557	1325557	G	A	intergenic	DMRT2,SMARCA2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	mortality/aging,integument phenotype	-,Short stature|Schizophrenia, association with   |Nicholaides-Baraitser syndrome|Multiple congenital anomalies  |Lung cancer, association with|Intellectual disabilty, short stature and dysmorphisms|Hepatocellular carcinoma, in smokers, association with.|Hepatocellular carcinoma, association with.|Developmental delay & dysmorphic features|Developmental delay & autistic features|Developmental delay  |Coffin-Siris syndrome	ICGC,
chr18	18762140	18762140	T	C	intergenic	ROCK1,GREB1L	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9223773	-	PAEN-AU|1|52|0.01923	-	-	integument phenotype,-	Potential protein deficiency|Tetralogy of Fallot, predisposition to,Potential protein deficiency	COSMIC,ICGC,
chr6	53549099	53549099	A	C	intergenic	KLHL31,LRRC1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9909058	-	RECA-EU|1|422|0.00237	-	-	-,-	-,-	COSMIC,ICGC,
chr5	130315416	130315416	C	A	intergenic	CHSY3,HINT1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5589228	-	LIRI-JP|1|258|0.00388	-	-	-,cellular phenotype	-,Axonal neuropathy with neuromyotonia	COSMIC,ICGC,
chr4	172625547	172625547	T	G	intergenic	MIR6082,GALNTL6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr18	30205112	30205112	C	T	intergenic	WBP11P1,KLHL14	unknown	SNV	-	-	-	0.0038	rs117014322	-	0.00778754	-	-	-	-	LAML-KR|1|205|0.00488	-	-	-,-	-,-	ICGC,
chr7	89302123	89302123	C	T	intergenic	ZNF804B,STEAP2-AS1	unknown	SNV	-	-	-	3.229e-05	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,-	-,-	ICGC,
chr3	94935712	94935712	C	T	intergenic	LINC00879,MTHFD2P1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr3	73301263	73301263	-	T	intergenic	PPP4R2,PDZRN3	unknown	insertion	-	-	-	0.0009	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	168013792	168013792	C	T	intronic	XIRP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Schizophrenia	ICGC,
chr7	126740169	126740169	A	T	intronic	GRM8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	behavior/neurological phenotype	Attention deficit hyperactivity disorder|Autism spectrum disorder  	ICGC,
chr7	22769273	22769273	G	A	exonic	IL6	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM4549146	-	-	-	-	integument phenotype	Febrile seizures, association with.|Graft-versus-host disease, association with|Impaired cognitive development, association with|Increased serum lipoprotein(a) concentrations, association|Irritable bowel syndrome, association with|Ischaemic stroke, in Han Chinese, association with|Juvenile arthritis, lower risk, association|Leprosy, association with|Longevity, association with|Lower bone mineral density, association with|Oral carcinoma, tobacco-related, protection against|Tuberculosis resistance, association with.|Systemic lupus erythematosus, association with|Sudden infant death syndrome, association with|Protection from late diabetic complications|Preterm birth, association with.|Postmenopausal osteoporosis, association with|Pemphigus, association with.|Paranoid schizophrenia, increased risk |Fat free mass in men, association with|Coronary heart disease, reduced risk, association with.|Alzheimer disease, reduced risk, association with.|Alzheimer disease, protection, association with|Alzheimer disease, increased risk when found with APOE e4|Alzheimer disease|Altered transcriptional activity|Altered gene expression|Acute coronary syndrome, protection against, association with|Acute coronary syndrome, association with.|Arterial stiffness, association with|Autoimmune thyroid diseases, association with|Bladder cancer, association with|Coeliac disease susceptibility in females, association with|Cervical cancer risk|Cerebral palsy, association with|Cerebral palsy, associated with|Cerebral palsy |Cardiovascular risk factors, association with|Cardiovascular disease risk, association with|Bone mineral density, association with	COSMIC,COSMIC,
chr7	141903209	141903209	T	C	intronic	LOC93432	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21944778	-	BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr2	147134701	147134701	G	A	intergenic	TEX41,PABPC1P2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr6	75109986	75109986	C	A	ncRNA_intronic	LOC101928516	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN28058133	-	PRAD-CA|1|308|0.00325	-	-	-	-	COSMIC,ICGC,
chr4	98737864	98737864	C	T	intronic	STPG2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr3	79221047	79221047	T	C	intronic	ROBO1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	mortality/aging	Developmental dyslexia 	ICGC,
chr14	55291749	55291749	-	GGTGTG	intergenic	SAMD4A,GCH1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	Potential protein deficiency,Ischemic stroke, increased risk|Lower attention performance, association with|Pain modulation, association with|Parkinson disease  |Reduced novelty seeking in males, association with |Spastic paraplegia, progressive|Tetrahydrobiopterin deficiency|Type 2 diabetic macrovascular disease, association with|Hyperphenylalaninaemia|GTPCH I deficiency without hyperphenylalaninemia|GTP-cyclohydrolase I deficiency.|Decreased expression|Dystonia|Dystonia, dopa-responsive|Dystonia, paroxysmal exercise-induced|Dystonia, progressive|Dystonic encephalopathy without hyperphenylalaninemia |GTP-cyclohydrolase I deficiency  |GTP-cyclohydrolase I deficiency without hyperphenylalaninemia	ICGC,
chr2	211591366	211591366	T	C	intergenic	CPS1,ERBB4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27887458	-	PRAD-CA|1|308|0.00325	-	-	mortality/aging,integument phenotype	VACTERL |Neonatal pulmonary hypertension, association with|Necrotizing enterocolitis, in preterm infants, association with|Hyperammonaemia, association with|Carbamoyl phosphate synthetase I deficiency|Altered Nitric oxide production and vascular smooth muscle reactivity|Altered glycine metabolism,Schizophrenia |Oligohydramnios|Intellectual disability, hyperactivity & speech developmental delay|Increased promoter activity|Hepatocellular carcinoma, increased risk, association with|Epileptic encephalopathy, early infantile 3|Breast and colorectal cancer, association with|Bipolar disorder, association with |Bipolar disorder |Autism spectrum disorder  |Amyotrophic lateral sclerosis type 19	COSMIC,ICGC,
chr13	85230744	85230744	C	T	intergenic	LINC00333,LINC00351	unknown	SNV	-	-	-	3.242e-05	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332,PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr14	46727239	46727239	G	A	ncRNA_intronic	LINC00871	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr6	64126037	64126037	T	A	intergenic	LGSN,PTP4A1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9801423	-	OV-AU|1|93|0.01075	-	-	-,-	-,-	COSMIC,COSMIC,COSMIC,ICGC,
chr11	97069508	97069508	A	T	intergenic	JRKL-AS1,MIR7976	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	-,-	ICGC,
chr3	52208797	52208797	C	A	intergenic	POC1A,ALAS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,mortality/aging	Short stature, onychodysplasia, facial dysmorphism & hypotrichosis syndrome|Primordial dwarfism,Schizophrenia	ICGC,
chr19	51713053	51713053	A	T	intergenic	MIR8074,CD33	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1770728	-	LIRI-JP|1|258|0.00388	-	-	-,hematopoietic system phenotype	-,Alzheimer disease, increased risk, association with|Alzheimer disease risk, association with|Altered expression levels|Acute myeloid leukaemia, relapse, increased risk	COSMIC,ICGC,
chr4	130909198	130909198	-	C	intergenic	LOC101927282,NONE	unknown	insertion	-	-	-	-	-	-	-	-	0.014	COSN19323547	-	-	-	-	-,-	-,-	COSMIC,
chr18	47399501	47399501	C	T	intronic	MYO5B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493,MELA-AU|1|183|0.00546	-	-	-	Microvillus inclusion disease	ICGC,
chrX	44692800	44692800	G	T	intergenic	FUNDC1,DUSP21	unknown	SNV	-	-	-	0.1585	rs7062835	-	0.174834	-	0.123	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,Potential protein deficiency	ICGC,
chr1	214970167	214970167	G	A	intergenic	CENPF,KCNK2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,-	ICGC,
chr3	81349352	81349352	C	T	intergenic	ROBO1,GBE1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,mortality/aging	Developmental dyslexia ,Potential protein deficiency|Polyglucosan body disease, relapsing-remitting form|Polyglucosan body disease, adult|Lethal multiple pterygium syndrome|Glycogen storage disease 4, non-lethal neuromuscular|Glycogen storage disease 4, neonatal|Glycogen storage disease 4|Autism spectrum disorder|Adult polyglucosan body disease	ICGC,
chr4	161441667	161441667	C	T	intergenic	RAPGEF2,FSTL5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	-,Schizophrenia  |Rolandic epilepsy 	ICGC,
chr2	116709	116709	G	A	intergenic	FAM110C,SH3YL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr11	110613841	110613841	C	T	intergenic	ARHGAP20,C11orf53	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	ICGC,
chr3	65999533	65999533	G	A	intronic	MAGI1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-	Schizophrenia  |Bipolar affective disorder  	ICGC,
chr3	167518280	167518280	T	G	intronic	SERPINI1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	behavior/neurological phenotype	Schizophrenia  |Myoclonus epilepsy with declining mental status|Myoclonus epilepsy|Epilepticus of slow-wave sleep|Dementia, familial	ICGC,
chr2	57010351	57010351	A	C	intergenic	CCDC85A,VRK2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr10	47112129	47112129	T	C	ncRNA_intronic	LINC00842	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr4	72025574	72025574	T	G	intergenic	DCK,SLC4A4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22217208	-	BRCA-EU|1|569|0.00176	-	-	hematopoietic system phenotype,integument phenotype	Reduced activity,Reduced transport activity|Proximal renal tubular acidosis|Migraine 	COSMIC,ICGC,
chr11	36790766	36790766	C	G	intergenic	C11orf74,LOC103312105	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr12	123682961	123682961	T	A	intronic	MPHOSPH9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-JP|1|585|0.00171	-	-	-	-	ICGC,
chr10	106250859	106250859	T	A	intergenic	LOC101927523,SORCS3	unknown	SNV	-	-	-	6.461e-05	-	-	-	-	-	COSN17530762	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr14	91573485	91573485	T	G	intergenic	RPS6KA5,C14orf159	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	integument phenotype,-	-,-	ICGC,
chr9	88943918	88943918	T	C	intronic	ZCCHC6	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2331847	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr3	151975594	151975594	A	T	intergenic	AADACL2-AS1,MBNL1-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200,MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr1	153904164	153904164	G	A	intronic	DENND4B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr11	79496869	79496869	C	T	intergenic	TENM4,LOC101928944	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22606728	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging,-	-,-	COSMIC,ICGC,
chrX	83263741	83263741	C	T	intergenic	CYLC1,RPS6KA6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,cardiovascular system phenotype	-,-	ICGC,
chr5	99630180	99630180	A	G	intergenic	CTD-2151A2.1,LOC100133050	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20146059	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	COSMIC,ICGC,
chr15	60734510	60734518	AAACGAAAG	-	intronic	ICE2	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr15	92111712	92111712	C	A	intergenic	LOC101926928,SLCO3A1	unknown	SNV	-	-	-	0.1738	rs62025548	-	0.312899	-	0.181	-	-	LAML-KR|2|205|0.00976	-	-	-,-	-,-	ICGC,
chrX	42610504	42610504	C	T	intergenic	CASK,PPP1R2P9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Autism |Pontocerebellar hypoplasia 3 with early myoclonic epilepsy and tetralogy of Fallot|Pontocerebellar hypoplasia 2|Opitz-Kaveggia syndrome|Ohtahara syndrome & cerebellar hypoplasia|Nystagmus  |Microcephaly, mental retardation, brainstem & cerebellar hypoplasia|Mental retardation, X-linked |Mental retardation, nystagmus & microcephaly|Mental retardation, microcephaly & pontocerebellar hypoplasia|Autism spectrum disorder|Epilepsy & pontocerebellar hypoplasia|Intellectual disability & microcephaly with pontine & cerebellar hypoplasia|Intellectual disability, microcephaly, pontocerebellar hypoplasia|Mental retardation & microcephaly with pontine & cerebellar hypoplasia|Mental retardation & nystagmus,-	ICGC,
chr4	99404600	99404600	G	A	intronic	TSPAN5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr10	63236338	63236338	A	C	ncRNA_intronic	LOC101928781	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5880242	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr18	58745369	58745369	A	G	intergenic	MC4R,CDH20	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	hematopoietic system phenotype,-	Obesity, severe|Reduced activity|Reduced function   |Reduced transcriptional activity|Weight loss after gastric bypass surgery, association with|Obesity, protection against, association with|Obesity, early onset|Obesity, autosomal dominant, association with|Obesity, autosomal dominant|Obesity, association with.|Obesity|Melanocortin-4 receptor variant|Decreased body mass, association with,-	ICGC,
chr12	460560	460560	C	T	intronic	KDM5A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging	Intellectual disability  |Congenital heart disease 	ICGC,
chr4	22750555	22750555	C	T	exonic	GBA3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSM4446102	-	-	-	-	-	Cytosolic beta-glucosidase deficiency, association	COSMIC,COSMIC,
chr2	132347421	132347421	A	C	ncRNA_intronic	RNU6-81P	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24879122	-	PBCA-DE|1|499|0.00200	-	-	-	-	COSMIC,ICGC,
chr20	53605072	53605072	C	T	intergenic	DOK5,LINC01441	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	174399500	174399500	C	T	ncRNA_intronic	FLJ16171	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr19	12045106	12045106	C	T	intronic	ZNF700	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-	-	ICGC,
chr21	26835998	26835998	G	A	intergenic	LINC00158,MIR155HG	unknown	SNV	-	-	-	0.1273	rs11087960	-	0.189696	-	0.217	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr4	124419343	124419343	-	ACA	intergenic	SPRY1,LINC01091	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|4|67|0.05970	-	-	mortality/aging,-	-,-	ICGC,
chr12	80036900	80036900	A	G	intronic	PAWR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	hematopoietic system phenotype	Schizophrenia in females, association with	ICGC,
chr4	173584913	173584913	C	T	intronic	GALNTL6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr22	41718846	41718846	G	A	intronic	ZC3H7B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-	-	ICGC,
chr10	17045623	17045623	T	A	intronic	CUBN	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9028110	-	PAEN-AU|1|52|0.01923	-	-	mortality/aging	Pulmonary atresia  |Proteinuria  |Potential protein deficiency|Megaloblastic anaemia|Imerslund-Gräsbeck syndrome|High HDL cholesterol|Albuminuria, association with	COSMIC,ICGC,
chr1	72417793	72417793	A	T	intronic	NEGR1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22434658	-	BRCA-EU|1|569|0.00176	-	-	behavior/neurological phenotype	Obesity, association with|Dyslexia |Body mass index, association with|Attention deficit hyperactivity disorder	COSMIC,ICGC,
chr2	77428495	77428495	C	T	intronic	LRRTM4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr1	186229888	186229888	T	C	ncRNA_intronic	MIR548F1,RNU6-72P	unknown	SNV	-	-	-	0.1721	rs1070511	-	0.129393	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr2	220135957	220135957	G	A	ncRNA_exonic	TUBA4B	unknown	SNV	-	-	4.086e-06	-	rs530906082	8.97e-06	0.000199681	-	-	COSN2382264	-	-	-	-	-	-	COSMIC,
chr2	215429052	215429052	C	T	intronic	VWC2L	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|2|100|0.02000,MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr2	135308182	135308182	G	A	exonic	TMEM163	synonymous	SNV	-	-	1.219e-05	-	rs576374684	8.238e-06	0.000199681	-	-	-	LIHC|1|373|0.00268	-	-	-	-	-	TCGA,
chr11	83594848	83594848	A	-	intronic	DLG2	unknown	deletion	-	-	-	0.0199	-	-	-	-	-	COSN27243556	-	BTCA-SG|5|71|0.07042	-	-	integument phenotype	Schizophrenia and epilepsy|Myopathy  |Intellectual disability, autism and epilepsy|Hypochondriasis|Dysmorphic features & speech delay|Developmental delay and dysmorphic features|Developmental delay  	COSMIC,COSMIC,COSMIC,COSMIC,ICGC,
chr10	110760480	110760480	T	-	intergenic	SORCS1,RNU6-53P	unknown	deletion	-	-	-	3.232e-05	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332,PACA-CA|2|268|0.00746,PACA-AU|1|391|0.00256,PBCA-US|1|186|0.00538	-	-	other phenotype,-	Autism ,-	ICGC,
chr1	205636863	205636863	C	T	intronic	SLC45A3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr5	1347789	1347789	G	T	intergenic	CLPTM1L,SLC6A3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,integument phenotype	Cleft lip and palate, syndromic & neuro-psychomotor developmental delay,Dystonia-parkinsonism, infantile|Idiopathic epilepsy, generalised, association with|Idiopathic intellectual disability, association with|Mood instability in bipolar disorder patients, association with|Parkinson disease, neuroprotection in East Asians, association with|Parkinson disease, protection against, association |Parkinson disease, susceptibility to|Posttraumatic stress disorder, association with.|Schizophrenia, association with|Short-term response to smoking cessation, association|Dorsal anterior cingulate function in ADHD, association with|Dopamine transporter deficiency syndrome|Alcoholism, association with|Attention deficit hyperactivity disorder, association with|Attention deficit hyperactivity disorder, association with.|Attention-deficit hyperactivity disorder, association|Attention-deficit hyperactivity disorder, association with|Attention-deficit hyperactivity disorder, in adults, association with.|Attention-deficit/hyperactivity disorder|Autism|Bipolar affective disorder|Cocaine dependence, association with	ICGC,
chr18	67266883	67266883	G	A	intronic	DOK6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-	-	ICGC,
chr16	13207695	13207695	C	T	intronic	SHISA9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr8	116147401	116147401	G	A	intergenic	CSMD3,TRPS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	Schizophrenia  |Colorectal cancer ,Tricho-rhino-phalangeal syndrome with supernumerary teeth|Tricho-rhino-phalangeal syndrome III|Tricho-rhino-phalangeal syndrome I|Tricho-rhino-phalangeal syndrome|Infantile scoliosis & developmental delay|Femoral neck width, association with|Ambras syndrome	ICGC,
chr1	180823962	180823976	TTTCTGTTTGCCACA	-	intronic	XPR1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	immune system phenotype	-	ICGC,
chr2	207015957	207015957	G	C	intronic	NDUFS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6556506	-	PBCA-DE|1|499|0.00200	-	-	-	Complex 1 deficiency|Mitochondrial complex 1 deficiency |Mitochondrial complex I deficiency	COSMIC,ICGC,
chr6	93860591	93860591	C	A	intergenic	CASC6,EPHA7	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24770743	-	GACA-CN|1|123|0.00813	-	-	-,nervous system phenotype	-,Development delay and dysmorphic features|Leukemia, risk, association with 	COSMIC,ICGC,
chr1	177247891	177247891	G	A	exonic	BRINP2	nonsynonymous	SNV	0.306	0.145	0.0002	-	rs578056833	0.0002	0.000199681	-	-	COSM5052825	-	-	-	-	-	-	COSMIC,
chr2	126011266	126011266	T	A	intergenic	CNTNAP5,GYPC	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17533785	-	ESAD-UK|1|301|0.00332	-	-	-,-	Autism,Glycophorin C variant|Gerbich-negative blood group|Elliptocytosis|Duch blood group	COSMIC,ICGC,
chr8	48127058	48127058	C	T	intergenic	LOC100287846,SPIDR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-UK|1|140|0.00714	-	-	-,-	-,-	ICGC,
chr3	94958575	94958575	C	T	intergenic	LINC00879,MTHFD2P1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr13	69027477	69027477	A	C	intergenic	PCDH9,LINC00550	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr7	100129272	100129272	G	C	intergenic	NYAP1,AGFG2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr8	119282177	119282177	C	T	intronic	SAMD12	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr11	70322869	70322869	C	G	intronic	SHANK2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1541922	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging	Autism|Autism spectrum disorder |Intellectual disability and language impairment|Mental retardation |Mental retardation, speech / developmental delay & facial features	COSMIC,ICGC,
chr8	120975020	120975020	A	C	intronic	DEPTOR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr18	58651502	58651502	C	A	intergenic	MC4R,CDH20	unknown	SNV	-	-	-	-	rs758141034	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype,-	Obesity, severe|Reduced activity|Reduced function   |Reduced transcriptional activity|Weight loss after gastric bypass surgery, association with|Obesity, protection against, association with|Obesity, early onset|Obesity, autosomal dominant, association with|Obesity, autosomal dominant|Obesity, association with.|Obesity|Melanocortin-4 receptor variant|Decreased body mass, association with,-	ICGC,
chr14	23589286	23589286	C	G	upstream	CEBPE	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21821782	-	BRCA-EU|1|569|0.00176	-	-	integument phenotype	Neutrophil-specific granule deficiency	COSMIC,ICGC,
chrX	49863414	49863414	G	A	UTR3	CLCN5	unknown	SNV	-	-	-	0.0003	rs781863818	-	0.00503311	-	-	-	-	-	Dent_Disease	-	skeleton phenotype	Dent (Japan) disease|Rickets, hypophosphataemic|Nephrolithiasis, hypercalciuric|Low molecular weight proteinuria|Dent disease 2|Dent disease	ClinVar,
chrX	130075838	130075838	-	T	intergenic	ENOX2,ARHGAP36	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	normal phenotype,-	-,-	ICGC,
chr18	61374378	61374378	G	A	intronic	SERPINB11	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23600040	-	ESAD-UK|1|301|0.00332	-	-	-	Non-inhibitory variant	COSMIC,ICGC,
chr12	39973353	39973353	G	A	exonic	ABCD2	nonsynonymous	SNV	0.0	1.0	-	-	-	-	-	-	-	COSM1705392	SKCM|1|368|0.00272	SKCM-US|1|335|0.00299,MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype	-	COSMIC,TCGA,ICGC,
chr1	80340463	80340463	CC	TT	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr10	118888586	118888586	C	T	UTR3	VAX1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Microphthalmia	ICGC,
chr1	189583928	189583928	G	A	intergenic	NONE,BRINP3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	22348792	22348792	T	C	intronic	CDH12	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22763402	-	BRCA-EU|1|569|0.00176	-	-	-	Lung cancer, susceptibility to, association with	COSMIC,ICGC,
chr1	240386123	240386123	G	A	intronic	FMN2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|2|100|0.02000	-	-	reproductive system phenotype	Intellectual disability, non-syndromic|Mental retardation & short stature	ICGC,
chr10	96796803	96796818	GAAGACATAATAGTGG	-	UTR3	CYP2C8	unknown	deletion	-	-	-	-	-	-	-	-	-	COSN1124746	-	-	-	-	-	Rhabdomyolysis after cerivastatin treatment|Reduced expression|Potential protein deficiency|Poor paclitaxel metabolism|Poor metaboliser|Increased cerivastatin metabolism|Diabetes, type II, association with|CYP2C8 deficiency|Coronary heart disease, increased risk in smokers, association	COSMIC,
chr5	164540199	164540199	T	G	intergenic	LOC102546299,CTB-7E3.1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr8	132069351	132069351	G	T	intergenic	ADCY8,EFR3A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	integument phenotype,-	Myocardial infarction  ,Autism|Potential protein deficiency	ICGC,
chrX	42851479	42851479	C	T	intergenic	PPP1R2P9,LOC101927501	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr5	119933535	119933535	A	C	intronic	PRR16	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr14	107191061	107191061	-	TC	intergenic	LINC00221,NONE	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr6	83483743	83483743	G	T	intergenic	TPBG,UBE3D	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	-,-	ICGC,
chr15	97711045	97711045	C	T	intergenic	SPATA8,LOC101927286	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Potential protein deficiency,-	ICGC,
chr7	14373550	14373550	C	T	intronic	DGKB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ORCA-IN|1|178|0.00562	-	-	behavior/neurological phenotype	-	ICGC,
chr17	51740090	51740090	A	T	intergenic	C17orf112,KIF2B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr13	99053062	99053062	C	A	intronic	FARP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-	-	ICGC,
chr5	81883536	81883536	C	G	intergenic	ATP6AP1L,MIR3977	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23447064	-	EOPC-DE|1|202|0.00495	-	-	-,-	-,-	COSMIC,ICGC,
chr12	126409016	126409016	C	T	intergenic	TMEM132B,LINC00939	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	53553683	53553684	AG	-	exonic	SLC1A7	frameshift	deletion	-	-	-	-	-	-	-	-	-	-	-	LGG-US|1|283|0.00353	-	-	behavior/neurological phenotype	-	ICGC,
chr10	45756896	45756896	C	A	intergenic	ANKRD30BP3,OR13A1	unknown	SNV	-	-	-	0.4473	rs7910028	-	0.335064	-	0.413	-	-	ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488	-	-	-,-	-,-	ICGC,
chr9	5326715	5326715	C	T	intergenic	RLN2,RLN1	unknown	SNV	-	-	-	0.0076	rs111285678	-	0.00958466	-	0.007	-	-	LICA-FR|1|252|0.00397	-	-	-,integument phenotype	-,-	ICGC,
chr1	201524412	201524412	G	A	intergenic	RPS10P7,NAV1	unknown	SNV	-	-	-	0.2032	rs12030585	-	0.358826	-	0.275	COSN6437763	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,Autism spectrum disorder	COSMIC,ICGC,
chr11	6911375	6911375	G	A	intergenic	OR10A4,OR2D2	unknown	SNV	-	-	-	0.1987	rs721119	-	0.158746	-	0.174	-	-	ESAD-UK|1|301|0.00332	-	-	cellular phenotype,-	-,-	ICGC,
chr8	43656829	43656829	C	G	intergenic	POTEA,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr4	80186497	80186497	G	A	ncRNA_intronic	LINC01088	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	-	ICGC,
chr2	1812219	1812219	C	T	intronic	MYT1L	unknown	SNV	-	-	-	6.459e-05	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332,MELA-AU|1|183|0.00546	-	-	-	Schizophrenia, childhood onset  |Schizophrenia  |Intellectual disability, obesity, hyperphagia & behavioural difficulties|Intellectual disability, obesity & hyperactivity|Intellectual disability  |Brain malformations |Autism 	ICGC,
chr18	65669954	65669954	G	A	intergenic	LOC643542,TMX3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9843215	-	RECA-EU|1|422|0.00237	-	-	-,-	-,-	COSMIC,ICGC,
chr5	153152666	153152666	-	C	intronic	GRIA1	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN14757745	-	-	-	-	integument phenotype	Intellectual disability  	COSMIC,
chr19	53809897	53809897	C	T	intergenic	BIRC8,ZNF845	unknown	SNV	-	-	-	9.682e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr13	82547813	82547813	G	T	intergenic	SPRY2,SLITRK1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,mortality/aging	Cleft lip ,Trichotillomania|Tourette syndrome|Obsessive-compulsive disorder |Attention deficit hyperactivity disorder 	ICGC,
chr7	132722295	132722295	C	T	intronic	CHCHD3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15557365	-	OV-AU|1|93|0.01075	-	-	mortality/aging	-	COSMIC,COSMIC,ICGC,
chrX	41310787	41310787	G	A	intronic	NYX	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	vision/eye phenotype	Nightblindness-associated transient tonic downgaze|Night blindness, congenital stationary 1|Night blindness, congenital stationary|Myopia	ICGC,
chr17	11019638	11019638	G	T	intergenic	PIRT,SHISA6	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20893553	-	BRCA-EU|1|569|0.00176	-	-	integument phenotype,-	-,-	COSMIC,ICGC,
chr20	41649221	41649221	G	A	intronic	PTPRT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	homeostasis/metabolism phenotype	Intellectual disability, behavioural problems, microcephaly & cardiac defect|Attention deficit hyperactivity disorder 	ICGC,
chr12	128616298	128616298	G	A	intergenic	LOC101927694,TMEM132C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr11	117602436	117602436	A	G	intronic	DSCAML1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	mortality/aging	-	ICGC,
chr19	51372638	51372638	C	G	intergenic	KLK3,KLK2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24206942	-	BRCA-FR|1|72|0.01389	-	-	-,-	Prostate cancer, increased risk, association with|Low PSA concentration|Breast cancer, association with|Altered PSA level ,-	COSMIC,ICGC,
chr5	3849739	3849739	A	C	intergenic	IRX1,LOC101929153	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	ICGC,
chr12	45877933	45877933	T	A	intergenic	ANO6,LINC00938	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype,-	Scott syndrome,-	ICGC,
chr1	85341415	85341415	A	C	intronic	LPAR3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21454983	-	BRCA-EU|1|569|0.00176	-	-	reproductive system phenotype	Schizophrenia	COSMIC,ICGC,
chr6	35987313	35987313	G	T	exonic	SLC26A8	nonsynonymous	SNV	0.31	0.993	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	reproductive system phenotype	Asthenozoospermia 	ICGC,
chr2	145562733	145562733	C	T	ncRNA_intronic	TEX41	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr10	55752007	55752007	G	A	intronic	PCDH15	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	vision/eye phenotype	Usher syndrome II|Usher syndrome 1f|Usher syndrome 1|Lipid levels in hyperlipidaemia, association with|Hearing loss, non-syndromic|Deafness, non-syndromic, autosomal recessive|Deafness, non-syndromic |Deafness  	ICGC,
chr12	81691975	81691975	G	A	ncRNA_intronic	LOC102724663	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr8	143438180	143438180	G	A	intronic	TSNARE1	unknown	SNV	-	-	-	0.0276	rs59948197	-	0.04373	-	0.036	-	-	ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488	-	-	-	-	ICGC,
chr7	118806328	118806328	G	T	intergenic	ANKRD7,KCND2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	-,Epilepsy, temporal lobe	ICGC,
chr10	56680028	56680028	A	G	intergenic	PCDH15,MTRNR2L5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8933991	-	ESAD-UK|1|301|0.00332	-	-	vision/eye phenotype,-	Usher syndrome II|Usher syndrome 1f|Usher syndrome 1|Lipid levels in hyperlipidaemia, association with|Hearing loss, non-syndromic|Deafness, non-syndromic, autosomal recessive|Deafness, non-syndromic |Deafness  ,-	COSMIC,ICGC,
chr10	119801576	119801599	CAGTTAACTCAAAGTTTTGGAAAA	-	intronic	RAB11FIP2	unknown	deletion	-	-	-	-	-	-	-	-	-	COSN22901135	-	BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr8	116312784	116312784	C	G	intergenic	CSMD3,TRPS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,integument phenotype	Schizophrenia  |Colorectal cancer ,Tricho-rhino-phalangeal syndrome with supernumerary teeth|Tricho-rhino-phalangeal syndrome III|Tricho-rhino-phalangeal syndrome I|Tricho-rhino-phalangeal syndrome|Infantile scoliosis & developmental delay|Femoral neck width, association with|Ambras syndrome	ICGC,
chrX	149681182	149681182	G	T	exonic	MAMLD1	nonsynonymous	SNV	0.0	1.0	-	-	-	-	-	-	-	COSM5965907	-	BRCA-KR|1|50|0.02000	-	-	-	46,XY disorder of sex development |Hypospadias|Potential protein deficiency	COSMIC,ICGC,
chr2	167305868	167305868	C	A	intronic	SCN7A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	taste/olfaction phenotype	-	ICGC,
chr4	34981087	34981087	A	G	intergenic	NONE,ARAP2	unknown	SNV	-	-	-	0.1791	rs56324022	-	0.223243	-	0.326	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr1	97498146	97498146	A	G	intergenic	PTBP2,DPYD	unknown	SNV	-	-	-	9.698e-05	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging,-	-,Schizophrenia  |Reduced enzyme activity|Intellectual disability and autism|Intellectual disability  |Increased enzyme activity|Fluoropyrimidine-related toxicity, association with|Dihydropyrimidine dehydrogenase deficiency, partial|Dihydropyrimidine dehydrogenase deficiency|Autism spectrum disorder  	ICGC,
chr2	188427768	188427768	G	A	intergenic	TFPI,GULP1	unknown	SNV	-	-	-	3.331e-05	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,-	Increased plasma TFPI|Lower plasma TFPI|Reduced expression|Thrombophilia, association with,-	ICGC,
chr15	57875384	57875384	G	A	intergenic	CGNL1,GCOM1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,-	-,-	ICGC,
chr12	93088058	93088058	C	T	intergenic	CLLU1,C12orf74	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,Potential protein deficiency|Cervical artery dissection	ICGC,
chr4	65115629	65115629	G	A	intergenic	NONE,TECRL	unknown	SNV	-	-	-	-	rs768492838	-	-	-	-	COSN7500962	-	-	-	-	-,-	-,-	COSMIC,
chr15	74882253	74882253	G	T	exonic	ARID3B	stopgain	SNV	-	-	-	-	-	-	-	-	-	COSM5012912	-	-	-	-	mortality/aging	-	COSMIC,
chr18	35879751	35879751	T	C	intergenic	MIR4318,LINC00669	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	91096059	91096059	T	A	intronic	CCSER1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6848043	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr9	126174714	126174714	C	T	intronic	DENND1A	unknown	SNV	-	-	-	3.23e-05	-	-	-	-	-	-	-	LAML-KR|1|205|0.00488	-	-	-	Polycystic ovary syndrome, increased risk	ICGC,
chr7	82207976	82207976	C	A	intergenic	CACNA2D1,PCLO	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6893977	-	LIRI-JP|1|258|0.00388	-	-	behavior/neurological phenotype,mortality/aging	Short QT syndrome|Schizophrenia  |Histiocytoid cardiomyopathy|Epileptic encephalopathy  |Brugada syndrome    ,Bipolar disorder, association with 	COSMIC,ICGC,
chr19	48402420	48402420	A	G	intergenic	SULT2A1,SNAR-A12	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Decreased protein stability,-	ICGC,
chr15	20322966	20322966	G	T	intergenic	NONE,CHEK2P2	unknown	SNV	-	-	-	0.2968	rs28849083	-	-	-	-	-	-	LAML-KR|1|205|0.00488,PRAD-CA|1|308|0.00325	-	-	-,-	-,-	ICGC,
chr11	129212993	129212993	A	G	intergenic	ARHGAP32,BARX2	unknown	SNV	-	-	-	0.1736	rs545048521	-	0.0267572	-	-	-	-	PBCA-US|1|186|0.00538	-	-	reproductive system phenotype,integument phenotype	-,-	ICGC,
chr7	97740558	97740558	G	A	intronic	LMTK2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging	-	ICGC,
chr12	74482057	74482057	C	-	intergenic	LOC101928137,LOC100507377	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	ICGC,
chr15	61586177	61586177	-	AAGAGAGAGAGAGATAGA	intergenic	RORA,VPS13C	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	integument phenotype,-	Obesity,Schizophrenia  	ICGC,
chr9	81314955	81314955	A	C	intergenic	PSAT1,LOC101927450	unknown	SNV	-	-	-	0.0007	rs117521183	-	0.000798722	-	0.007	-	-	LAML-KR|1|205|0.00488	-	-	mortality/aging,-	Schizophrenia |Phosphoserine aminotransferase deficiency,-	ICGC,
chr8	14820149	14820149	G	C	intronic	SGCZ	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	Cervical artery dissection	ICGC,
chr20	47743123	47743123	-	AAAACAAAAAAAAAA	intronic	STAU1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	behavior/neurological phenotype	-	ICGC,
chr2	230955067	230955067	G	A	intergenic	SLC16A14,SP110	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Tuberculosis, susceptibility to, association with|Tuberculosis, reduced susceptibility, association with|Pulmonary tuberculosis, association with|Hepatic veno-occlusive disease with immunodeficiency	ICGC,
chr8	83690726	83690726	G	A	intergenic	SNX16,LINC01419	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr11	30565914	30565914	C	T	intronic	MPPED2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr1	97360231	97360231	C	T	intergenic	PTBP2,DPYD	unknown	SNV	-	-	-	3.261e-05	-	-	-	-	-	-	-	UTCA-FR|1|20|0.05000	-	-	mortality/aging,-	-,Schizophrenia  |Reduced enzyme activity|Intellectual disability and autism|Intellectual disability  |Increased enzyme activity|Fluoropyrimidine-related toxicity, association with|Dihydropyrimidine dehydrogenase deficiency, partial|Dihydropyrimidine dehydrogenase deficiency|Autism spectrum disorder  	ICGC,
chr1	71171155	71171155	G	A	intergenic	CTH,PTGER3	unknown	SNV	-	-	-	6.462e-05	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,integument phenotype	Hyperhomocysteinemia|Cystathioninuria|Cystathionine elevations |Altered homocysteine levels,-	ICGC,
chr5	150320187	150320187	A	G	ncRNA_intronic	ZNF300P1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	NKTL-SG|1|50|0.02000	-	-	-	-	ICGC,
chr4	15932291	15932291	CT	TA	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr11	35126054	35126054	C	T	intergenic	PDHX,LOC100507144	unknown	SNV	-	-	-	0.0002	rs376057117	-	0.0081869	-	0.007	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Pyruvate dehydrogenase defect|Pyruvate dehydrogenase complex deficiency,-	ICGC,
chr13	82639055	82639055	C	A	intergenic	SPRY2,SLITRK1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	mortality/aging,mortality/aging	Cleft lip ,Trichotillomania|Tourette syndrome|Obsessive-compulsive disorder |Attention deficit hyperactivity disorder 	ICGC,
chr3	83993424	83993424	T	C	intergenic	NONE,LINC00971	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	ICGC,
chr3	100637173	100637173	C	G	intronic	ABI3BP	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	Autism|Potential protein deficiency	ICGC,
chr1	57165435	57165435	C	T	intronic	PRKAA2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	hematopoietic system phenotype	LDL-cholesterol & total cholesterol levels, association|Potential protein deficiency	ICGC,
chr12	7405471	7405471	G	A	intergenic	PEX5,ACSM4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,taste/olfaction phenotype	Adrenoleukodystrophy|Peroxisome biogenesis disorder|Refsum disease, infantile,-	ICGC,
chr2	118809412	118809412	C	T	intergenic	CCDC93,INSIG2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Reduced BMI, association with|Obesity, association with	ICGC,
chrX	44419352	44419352	T	C	intergenic	FUNDC1,DUSP21	unknown	SNV	-	-	-	0.0313	rs17146946	-	0.0439735	-	0.029	-	-	LAML-KR|1|205|0.00488	-	-	-,-	-,Potential protein deficiency	ICGC,
chr7	155153395	155153395	C	T	ncRNA_intronic	BLACE	unknown	SNV	-	-	-	6.46e-05	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr13	81531289	81531289	C	T	intergenic	SPRY2,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	mortality/aging,-	Cleft lip ,-	ICGC,
chr2	24494810	24494810	C	T	exonic	ITSN2	synonymous	SNV	-	-	2.745e-05	9.735e-05	rs774551081	4.335e-05	-	-	-	COSM720806	LUSC|1|178|0.00562	LUSC-US|1|194|0.00515	-	-	-	Autism	COSMIC,COSMIC,TCGA,ICGC,
chr7	64981688	64981688	G	C	ncRNA_intronic	LOC441242	unknown	SNV	-	-	-	-	rs75919901	-	-	-	-	COSN20458373	-	COCA-CN|1|321|0.00312	-	-	-	-	COSMIC,ICGC,
chr6	37258605	37258605	A	-	intronic	TBC1D22B	unknown	deletion	-	-	-	0.0672	rs564332169	-	-	-	-	COSN27208778	-	BTCA-SG|4|71|0.05634	-	-	-	-	COSMIC,ICGC,
chr6	34281203	34281203	G	A	intronic	NUDT3,RPS10-NUDT3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chrX	63967749	63967749	C	T	intergenic	MTMR8,ZC4H2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Autism spectrum disorder,Arthrogryposis multiplex congenita and intellectual disability	ICGC,
chr4	73278952	73278952	A	C	intronic	ADAMTS3	unknown	SNV	-	-	-	0.6627	rs10938018	-	0.662141	-	0.667	COSN17598269	-	ESAD-UK|1|301|0.00332	-	-	-	Schizophrenia	COSMIC,ICGC,
chr10	31936298	31936298	G	A	intergenic	ZEB1,ARHGAP12	unknown	SNV	-	-	-	9.697e-05	rs541583127	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	integument phenotype,normal phenotype	Schizophrenia|Posterior polymorphous corneal dystrophy|Keratoconus & Fuchs endothelial corneal dystrophy|Keratoconus |Corneal dystrophy, Fuchs late-onset,-	ICGC,
chr6	4667249	4667249	C	T	intergenic	KU-MEL-3,CDYL	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27827884	-	UTCA-FR|1|20|0.05000	-	-	-,-	-,-	COSMIC,COSMIC,ICGC,
chr2	43737819	43737819	-	A	intronic	THADA	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	Diabetes, type 2, association with 	ICGC,
chr18	4987342	4987342	C	T	intergenic	DLGAP1,C18orf42	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Schizophrenia  ,-	ICGC,
chr1	109660082	109660082	C	T	intronic	KIAA1324	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr3	169975915	169975915	T	C	intronic	PRKCI	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6572767	-	PBCA-DE|1|499|0.00200	-	-	mortality/aging	-	COSMIC,ICGC,
chr2	189295595	189295595	C	A	intronic	GULP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr16	10388927	10388927	C	T	intergenic	GRIN2A,ATF7IP2	unknown	SNV	-	-	-	0.0002	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Intellectual disability  |Landau-Kleffner syndrome|Landau-Kleffner syndrome, atypical rolandic epilepsy, dysphasia, CSWS syndrome|Landau-Kleffner syndrome, verbal dyspraxia|Landau-Kleffner syndrome/benign epilepsy with centrotemporal spikes/atypical benign partial epilepsy|Mental retardation with abnormal EEG|Partial epilepsy, atypical benign|Rolandic epilepsy |Schizophrenia|Schizophrenia, chronic outcome, association with|Seizure disorders of rolandic region & intellectual disability|Increased hippocampal and amygdala volumes, association with|Epileptic encephalopathy, verbal dyspraxia|Epileptic encephalopathy, benign childhood epilepsy|Alcohol dependence, association with|Atypical rolandic epilepsy, absence epilepsy|Atypical rolandic epilepsy, verbal dyspraxia|Benign epilepsy with centrotemporal spikes|Epilepsy with cognitive impairment|Epilepsy-aphasia syndrome|Epilepsy, childhood-onset|Epileptic encephalopathy|Epileptic encephalopathy, abnormal EEG & developmental delay|Epileptic encephalopathy, atypical rolandic epilepsy, dysphasia|Epileptic encephalopathy, atypical rolandic epilepsy, verbal dyspraxia,-	ICGC,
chr12	88825914	88825914	A	G	intergenic	TMTC3,KITLG	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging,integument phenotype	-,Progressive hyperpigmentation|Progressive hyper- and hypopigmentation|Cancer, susceptibility to	ICGC,
chrX	86521720	86521720	C	A	intergenic	DACH2,KLHL4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24518410	-	GACA-CN|1|123|0.00813	-	-	normal phenotype,-	-,-	COSMIC,ICGC,
chr4	27605801	27605801	C	T	intergenic	STIM2,MIR4275	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	integument phenotype,-	-,-	ICGC,
chr2	152132485	152132485	T	C	intronic	NMI	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21010723	-	BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr1	42719300	42719300	G	A	intronic	FOXJ3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	cellular phenotype	-	ICGC,
chr1	189115518	189115518	A	C	intergenic	NONE,BRINP3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	5905485	5905485	C	T	intergenic	ICE1,FLJ33360	unknown	SNV	-	-	-	0.1190	rs35011518	-	0.0930511	-	0.138	-	-	ESAD-UK|2|301|0.00664,LAML-KR|1|205|0.00488	-	-	-,-	-,-	ICGC,
chr1	192450779	192450779	C	A	intergenic	RGS21,RGS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,hematopoietic system phenotype	-,-	ICGC,
chr10	18456002	18456002	C	G	intronic	CACNB2	unknown	SNV	-	-	-	3.229e-05	-	-	-	-	-	COSN6064026	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging	Schizophrenia  |Rapid ventricular tachycardia & intraventricular conduction delay|Early repolarization syndrome|Cardiac arrhythmia|Brugada syndrome (shorter-than-normal QT interval)|Brugada syndrome|Aortic regurgutation|Altered function|Ventricular fibrillation, idiopathic	COSMIC,ICGC,
chr6	162016494	162016494	C	T	intronic	PARK2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	EOPC-DE|1|202|0.00495	-	-	integument phenotype	Parkinson disease, decreased risk|Parkinson disease, early-onset|Parkinson disease, early-onset.|Parkinson disease, familial|Parkinson disease, familial, association with |Parkinson disease, idiopathic|Parkinson disease, in heterozygosity, association|Parkinson disease, late-onset|Parkinson disease, sporadic, reduced risk|Parkinson disease.|Parkinsonism, juvenile, autosomal recessive|Parkinsonism, late-onset, association with|Rolandic epilepsy |Parkinson disease, autosomal recessive|Parkinson disease, association with|Parkinson disease with resting leg tremor|Attention deficit hyperactivity disorder |Autism spectrum disorder|Cervical artery dissection|Dementia with Lewy bodies|Developmental delay  |Dystonia, dopa-responsive|Leprosy, association with|Lewy bodies|Lung adenocarcinoma   |Multiple system atrophy, cerebellar subtype|Parkinson disease|Parkinson disease with dementia.|Parkinson disease with Lewy bodies	ICGC,
chr8	90460065	90460065	C	T	intergenic	MMP16,RIPK2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,hematopoietic system phenotype	-,Autism spectrum disorder	ICGC,
chr16	66943275	66943275	-	C	exonic	CDH16	frameshift	insertion	-	-	-	-	-	-	-	-	-	-	-	UCEC-US|1|250|0.00400	-	-	-	-	ICGC,
chr9	104622127	104622127	G	A	intergenic	GRIN3A,LINC00587	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	vision/eye phenotype,-	Schizophrenia, increased risk |Schizophrenia |Potential protein deficiency,-	ICGC,
chr13	92688516	92688516	C	T	intronic	GPC5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-	Spina bifida  	ICGC,
chr11	30974086	30974086	T	C	UTR5	DCDC5	unknown	SNV	-	1.0	-	-	-	-	-	-	-	COSM1269987	-	-	-	-	-	Dyslexia |Schizophrenia  	COSMIC,
chr18	35176125	35176125	G	A	intergenic	CELF4,MIR4318	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Developmental & behavioural disorders, seizures, eye manifestations & obesity,-	ICGC,
chr14	20408358	20408358	A	G	intergenic	OR4K1,OR4K15	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-UK|1|141|0.00709	-	-	-,-	-,-	ICGC,
chr14	26739091	26739091	C	T	intergenic	STXBP6,NOVA1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,-	ICGC,
chr4	154637294	154637294	A	C	intronic	RNF175	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr1	233862045	233862045	C	T	intergenic	KCNK1,SLC35F3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	homeostasis/metabolism phenotype,-	-,-	ICGC,
chr5	136240418	136240421	TTTG	-	intergenic	TRPC7,SPOCK1	unknown	deletion	-	-	-	0.0005	rs777399534	-	-	-	-	COSN26050883	-	ESAD-UK|1|301|0.00332	-	-	vision/eye phenotype,normal phenotype	-,Developmental delay & microcephaly	COSMIC,ICGC,
chr10	113263362	113263362	G	A	intergenic	ADRA2A,GPAM	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	mortality/aging,growth/size phenotype	Diabetes, type 2, increased risk, association with|Increased fasting glucose levels, association with|Increased receptor activity|Increased trunk to extremity skinfold ratio in women, association,Complex I deficiency|Lung cancer, susceptibility to, association with	ICGC,
chrX	4292248	4292248	T	G	intergenic	LOC389906,LOC101928201	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16156979	-	PRAD-CA|1|308|0.00325	-	-	-,-	-,-	COSMIC,ICGC,
chr5	131457681	131457681	G	A	intergenic	CSF2,P4HA2-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype,-	Chronic obstructive pulmonary disease, association with|Pulmonary alveolar proteinosis|Reduced severity in atopic dermatitis, association with,-	ICGC,
chr22	50718922	50718922	G	C	exonic	PLXNB2	nonsynonymous	SNV	0.0	0.968	-	-	-	-	-	-	-	-	-	LUSC-US|1|194|0.00515	-	-	integument phenotype	-	ICGC,
chr1	239432110	239432110	A	G	intergenic	LINC01139,CHRM3	unknown	SNV	-	-	-	0.2231	rs2790626	-	0.226637	-	0.304	-	-	ESAD-UK|2|301|0.00664	-	-	-,vision/eye phenotype	-,Autistic disorder|Bladder malformation|Diabetes, type 2, increased risk, association |Tetralogy of Fallot	ICGC,
chr4	12215565	12215565	C	T	intergenic	HS3ST1,RAB28	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	-,Breast cancer risk, association with |Cone-rod dystrophy, autosomal recessive	ICGC,
chr12	18094736	18094736	T	C	intergenic	MIR3974,RERGL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,Colorectal cancer 	ICGC,
chr2	192040664	192040664	T	C	intergenic	STAT4,MYO1B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	RECA-EU|1|422|0.00237	-	-	mortality/aging,-	Systemic sclerosis, association with|Systemic lupus erythematosus, association with|Polymyositis/dermatomyositis, increased risk,-	ICGC,
chr8	72199193	72199193	C	T	intronic	EYA1	unknown	SNV	-	-	-	6.486e-05	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	mortality/aging	Oto-facio-cervical syndrome|Peters' anomaly with cataracts|Renal hypodysplasia|Renal malformation|Ureteropelvic junction obstruction and reduced renal function|Iris anomaly|Hearing loss?|Deafness  |Cayler's cardiofacial syndrome|Cataract, autosomal dominant|Branchio-oto-renal syndrome|Branchio-oto-renal / branchiootic syndrome|Branchio-otic syndrome	ICGC,
chr6	18919315	18919315	G	A	intergenic	MIR548A1,LOC101928519	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr12	110552534	110552534	G	A	intergenic	C12orf76,IFT81	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr15	65553306	65553306	G	A	exonic	PARP16	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM5536481	-	-	-	-	-	-	COSMIC,
chr4	66857950	66857950	A	C	intergenic	EPHA5-AS1,LOC101927237	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr17	79667862	79667862	C	A	intronic	HGS	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26577068	-	LICA-CN|1|402|0.00249	-	-	mortality/aging	-	COSMIC,ICGC,
chr11	84660116	84660116	C	T	intronic	DLG2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|2|183|0.01093	-	-	integument phenotype	Schizophrenia and epilepsy|Myopathy  |Intellectual disability, autism and epilepsy|Hypochondriasis|Dysmorphic features & speech delay|Developmental delay and dysmorphic features|Developmental delay  	ICGC,
chr6	165773579	165773579	A	C	intronic	PDE10A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16562900	-	PACA-CA|1|268|0.00373	-	-	behavior/neurological phenotype	-	COSMIC,ICGC,
chr4	130357090	130357090	T	A	intergenic	C4orf33,LOC101927282	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr17	70408858	70408858	C	A	ncRNA_intronic	LINC00673	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-	-	ICGC,
chr1	202797315	202797315	G	T	downstream	LOC641515	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr1	199472342	199472342	G	A	intergenic	LINC01222,NR5A2	unknown	SNV	-	-	-	6.459e-05	rs752301699	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,-	ICGC,
chr6	87358808	87358808	G	A	intergenic	SNHG5,HTR1E	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	ICGC,
chr12	63878677	63878677	A	G	intergenic	AVPR1A,DPY19L2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9753596	-	RECA-EU|1|422|0.00237	-	-	hematopoietic system phenotype,reproductive system phenotype	Pair-bonding behaviour, association with|Lower altruistic behaviour in children, association with|Increased blood pressure, association with|Drug use disorder diagnosis, association with|Autism, association with,Globozoospermia	COSMIC,ICGC,
chr5	44472241	44472241	C	T	intergenic	FGF10-AS1,LOC100506674	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr3	35232251	35232251	A	C	ncRNA_intronic	LOC101928135	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr2	173064321	173064321	G	A	intergenic	DLX2,ITGA6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,integument phenotype	-,Epidermolysis bullosa with pyloric atresia|Epidermolysis bullosa, junctional	ICGC,
chr10	86445404	86445404	G	A	intergenic	CCSER2,LOC101929624	unknown	SNV	-	-	-	0.0003	rs554185799	-	0.000199681	-	-	COSN16178211	-	PRAD-CA|1|308|0.00325	-	-	-,-	-,-	COSMIC,ICGC,
chr7	95985170	95985170	T	C	intergenic	SLC25A13,C7orf76	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24490028	-	GACA-CN|1|123|0.00813	-	-	mortality/aging,-	Potential protein deficiency|Neonatal intrahepatic cholestasis with multiple ovarian antral follicles|Neonatal intrahepatic cholestasis|Intrahepatic cholestasis, neonatal with multiple ovarian antral follicles|Intrahepatic cholestasis, neonatal|Hepatitis, idiopathic neonatal|Failure to thrive and dyslipidemia|Citrullinaemia, neonatal onset, type II|Citrullinaemia, infantile|Citrullinaemia, adult onset, type II|Citrin deficiency.|Citrin deficiency,-	COSMIC,ICGC,
chr18	53530050	53530072	TTAAAAAAACAACAACAAAAGTA	-	intergenic	TCF4,LOC101927273	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	OV-AU|1|93|0.01075	-	-	mortality/aging,-	Rett syndrome, variant / Pitt-Hopkins syndrome|Pitt-Hopkins syndrome|Mental retardation and microcephaly|Mental retardation & facial anomalies|Intellectual disability, nonsyndromic|Intellectual disability and dysmorphisms|Intellectual disability|Fuchs endothelial corneal dystrophy, susceptibility to |Angelman syndrome,-	ICGC,
chr7	88845463	88845463	-	A	intronic	ZNF804B	unknown	insertion	-	-	-	0.0010	rs551727605	-	0.00279553	-	-	COSN28065436	-	-	-	-	-	-	COSMIC,
chr10	63679225	63679225	C	T	intronic	ARID5B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging	-	ICGC,
chr10	11615943	11615943	A	G	intronic	USP6NL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-	Colorectal cancer 	ICGC,
chr13	81996270	81996270	C	T	intergenic	SPRY2,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,-	Cleft lip ,-	ICGC,
chr5	124274800	124274803	AAAA	-	intergenic	ZNF608,LOC101927421	unknown	deletion	-	-	-	0.0008	-	-	-	-	-	COSN19337058	-	-	-	-	-,-	-,-	COSMIC,
chr14	97515335	97515335	C	G	intergenic	LINC00618,LOC101929241	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5393568	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr3	86578261	86578261	C	T	intergenic	RNU6-69P,VGLL3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chrX	149804666	149804666	G	C	intronic	MTM1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	mortality/aging	Myotubular myopathy with subdural haemorrhage.|Myotubular myopathy with peliosis hepatis|Myotubular myopathy |Centronuclear myopathy	ICGC,
chr4	77483152	77483152	G	A	intronic	SHROOM3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging	Heterotaxy |Leukemia, risk, association with 	ICGC,
chr3	94174900	94174900	A	G	intergenic	NSUN3,LINC00879	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	EOPC-DE|1|202|0.00495	-	-	-,-	-,-	ICGC,
chr2	211579004	211579004	G	T	intergenic	CPS1,ERBB4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BOCA-UK|1|130|0.00769	-	-	mortality/aging,integument phenotype	VACTERL |Neonatal pulmonary hypertension, association with|Necrotizing enterocolitis, in preterm infants, association with|Hyperammonaemia, association with|Carbamoyl phosphate synthetase I deficiency|Altered Nitric oxide production and vascular smooth muscle reactivity|Altered glycine metabolism,Schizophrenia |Oligohydramnios|Intellectual disability, hyperactivity & speech developmental delay|Increased promoter activity|Hepatocellular carcinoma, increased risk, association with|Epileptic encephalopathy, early infantile 3|Breast and colorectal cancer, association with|Bipolar disorder, association with |Bipolar disorder |Autism spectrum disorder  |Amyotrophic lateral sclerosis type 19	ICGC,
chr19	41545236	41545265	AAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	-	intergenic	CYP2B6,CYP2A13	unknown	deletion	-	-	-	0.0005	-	-	-	-	-	-	-	SKCA-BR|2|100|0.02000	-	-	-,-	CYP2B6 expression|Decreased expression|Impaired efavirenz metabolism|Potential protein deficiency|Reduced expression|Complete loss of function|Altered enzyme activity|Acute myeloid leukaemia, increased risk|Almost complete loss of function|Altered (S)-methadone metabolism|Altered CYP2B6 expression|Altered efavirenz and nevirapine metabolism,Reduced promoter activity|Null allele|Lung adenocarcinoma, reduced risk|Decreased catalytic efficiency	ICGC,
chr14	45186707	45186707	A	C	intergenic	FSCB,C14orf28	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26018888	-	ESAD-UK|1|301|0.00332	-	-	-,-	Tourette syndrome ,Schizophrenia	COSMIC,ICGC,
chr18	22348811	22348811	C	A	intergenic	LOC729950,ZNF521	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21012152	-	BRCA-EU|1|569|0.00176	-	-	-,skeleton phenotype	-,-	COSMIC,ICGC,
chr8	87007922	87007922	C	A	intergenic	REXO1L2P,PSKH2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	ICGC,
chr7	153165439	153165439	A	C	intergenic	ACTR3B,DPP6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,nervous system phenotype	-,Autism spectrum disorder  |Schizophrenia  |Ventricular fibrillation, idiopathic 	ICGC,
chr18	68439029	68439029	C	A	intergenic	GTSCR1,LOC100505776	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	-,-	-,-	ICGC,
chrX	107991358	107991358	G	A	intergenic	LOC101928358,GUCY2F	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,vision/eye phenotype	-,-	ICGC,
chr13	95009103	95009103	C	T	intronic	GPC6	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8138793	-	PACA-CA|1|268|0.00373	-	-	-	Omodysplasia|Pancreatic cancer 	COSMIC,ICGC,
chr6	92152940	92152940	G	A	intergenic	MAP3K7,MIR4643	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging,-	-,-	ICGC,
chr2	177401024	177401024	C	T	intergenic	MTX2,MIR1246	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	ICGC,
chr4	2707317	2707317	C	T	intronic	FAM193A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr10	66323261	66323261	A	T	intergenic	REEP3,ANXA2P3	unknown	SNV	-	-	-	0.0014	rs562967155	-	0.000199681	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr19	53753778	53753778	G	A	intronic	ZNF677	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr19	43248933	43248933	C	A	intergenic	PSG3,PSG8	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22168401	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr15	95935261	95935261	G	T	intergenic	LINC01197,LINC00924	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	ICGC,
chr2	163350901	163350901	C	A	intronic	KCNH7	unknown	SNV	-	-	-	-	rs542089193	-	0.000199681	-	-	COSN8555853	-	MALY-DE|1|241|0.00415	-	-	-	-	COSMIC,ICGC,
chr3	111018044	111018044	G	A	intergenic	PVRL3,CD96	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	integument phenotype,-	Cataract, bilateral congenital  ,C syndrome	ICGC,
chr8	114183112	114183112	G	C	intronic	CSMD3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21485030	-	BRCA-EU|1|569|0.00176	-	-	-	Schizophrenia  |Colorectal cancer 	COSMIC,ICGC,
chr5	72973392	72973392	T	G	intronic	ARHGEF28	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-	Amyotrophic lateral sclerosis  	ICGC,
chr11	37881439	37881439	G	T	intergenic	C11orf74,LOC103312105	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr8	76796203	76796203	G	A	intergenic	HNF4G,LINC01111	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	respiratory system phenotype,-	-,-	ICGC,
chr3	36706943	36706943	G	A	intergenic	STAC,DCLK3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr14	46393839	46393839	C	T	intergenic	MIS18BP1,LINC00871	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	ICGC,
chr7	85777936	85777936	C	T	intergenic	SEMA3D,GRM3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	RECA-EU|1|422|0.00237	-	-	-,behavior/neurological phenotype	Total anomalous pulmonary venous connection|Tetralogy of Fallot|Hirschsprung disease   ,Schizophrenia, association with|Major depressive disorder, association with	ICGC,
chr20	11930375	11930375	C	-	intergenic	BTBD3,LOC101929486	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	OV-AU|1|93|0.01075	-	-	-,-	-,-	ICGC,
chr13	92818642	92818642	C	T	intronic	GPC5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Spina bifida  	ICGC,
chr2	51831971	51831971	T	G	intergenic	NRXN1,ASB3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8892954	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	Hypotonia|Hypotonia & encephalopathy|Increased white matter volume, association with|Intellectual disability  |Intellectual disability & attention deficit hyperactivity disorder|Intellectual disability & hearing loss|Intellectual disability & pervasive developmental disorder|Intellectual disability and autism|Intellectual disability, nonsyndromic |Intellectual disability, seizures, dysmorphisms & language delay|Growth retardation  |Epilepsy, myoclonic seizures & speech delay|Developmental disorder|Developmental disorder & attention deficit hyperactivity disorder|Developmental disorder, seizures & attention deficit hyperactivity disorder|Developmental/intellectual disability, hypotonia & dysmorphic features|Disorder of muscle, ligament & fascia|Encephalopathy  |Epilepsy  |Epilepsy with cognitive impairment / autism spectrum disorder|Epilepsy with focal seizures|Epilepsy, generalised |Intellectual disability, seizures, language delay & hypotonia|Language delay|Learning difficulties|Respiratory distress & sepsis|Respiratory distress syndrome|Schizophrenia |Schizophrenia, childhood onset |Schizophrenia, disorganised type|Seizures, generalized tonic-clonic & attention deficit hyperactivity disorder|Sensory integration disorder & attention deficit hyperactivity disorder|Speech delay & social communication difficulties|Tourette syndrome|Pervasive developmental disorder / hypotonia|Pervasive developmental disorder|Pervasive developmental delay / mental retardation, lack of coordination & hearing loss|Learning difficulties, ADHD & autism|Mental retardation|Mental retardation, autism, vertebral malformations|Mental retardation, Pitt-Hopkins-like|Microcephaly & mental retardation|Multiple congenital anomalies  |Multiple disabilities|Myoclonic epilepsy   |Neurodevelopmental disorder  |Vertebral anomalies|Developmental delay, speech delay & social communication difficulties|Attention deficit hyperactivity disorder |Autism spectrum disorder, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability & language delay|Autism spectrum disorder, intellectual disability, dysmorphisms, developmental delay & language delay|Autism spectrum disorder, intellectual disability, seizures & developmental delay|Autism spectrum disorder, intellectual disability, seizures, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability, seizures, dysmorphisms & language delay|Autism spectrum disorder, seizures, developmental delay & language delay|Autism, intellectual disability & attention deficit hyperactivity disorder|Autistic disorder|Autism spectrum disorder with developmental & speech delay|Autism spectrum disorder & seizures|Autism spectrum disorder & language delay|Autism |Autism & learning difficulties|Autism & mental retardation|Autism & seizures|Autism spectrum disorder|Autism spectrum disorder & attention deficit hyperactivity disorder|Autism spectrum disorder & developmental delay|Autism spectrum disorder & dysmorphic features|Autism spectrum disorder & intellectual disability|Behavioural problems|Congenital heart defect  |Craniofacial dysmorphism|Developmental delay & speech/motor delay|Developmental delay with early-onset epilepsy|Developmental delay, dysmorphic features & short stature|Developmental delay, epilepsy, autism|Developmental delay, language delay & hypotonia|Developmental delay, learning difficulties, ADHD|Developmental delay, microcephaly & behavioural problems|Developmental delay, pulmonic stenosis & autism spectrum disorder|Developmental delay, short stature and diaphragmatic hernia|Developmental delay, speech delay & microcephaly|Developmental delay & seizures|Developmental delay & seizure disorder|Cystic hygroma, hydrops & micrognathia|Cystic hygroma, shortened upper limbs & fetal demise|Developmental & speech delay|Developmental delay|Developmental delay / autism|Developmental delay & autism|Developmental delay & dysmorphic features|Developmental delay & epilepsy|Developmental delay & hypotonia|Developmental delay & multiple congenital anomalies,-	COSMIC,ICGC,
chr9	7532919	7532919	T	C	intergenic	KDM4C,TMEM261	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	integument phenotype,-	Upper aerodigestive tract cancer, association with,-	ICGC,
chr21	27907984	27907984	C	T	intronic	CYYR1	unknown	SNV	-	-	-	0.0003	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr5	44770231	44770231	G	A	ncRNA_intronic	LOC100506674	unknown	SNV	-	-	-	-	rs772116786	-	-	-	-	COSN6586098	-	PBCA-DE|1|499|0.00200	-	-	-	-	COSMIC,ICGC,
chr13	58524870	58524870	C	T	intergenic	PCDH17,LOC101926897	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr10	133974672	133974672	T	A	intronic	JAKMIP3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27435998	-	BTCA-SG|1|71|0.01408	-	-	-	-	COSMIC,ICGC,
chr4	20890121	20890121	G	A	intronic	KCNIP4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	Renal cell carcinoma 	ICGC,
chr5	67285939	67285939	C	G	intergenic	CD180,LOC102467655	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,-	-,-	ICGC,
chr15	95592784	95592784	C	T	intergenic	LOC440311,LINC01197	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	143916754	143916754	C	T	intergenic	C3orf58,PLOD2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Bruck syndrome	ICGC,
chr6	161950189	161950189	C	T	intronic	PARK2	unknown	SNV	-	-	-	0.1273	rs17650323	-	0.118211	-	0.087	COSN26000717	-	ESAD-UK|3|301|0.00997,LAML-KR|1|205|0.00488	-	-	integument phenotype	Parkinson disease, decreased risk|Parkinson disease, early-onset|Parkinson disease, early-onset.|Parkinson disease, familial|Parkinson disease, familial, association with |Parkinson disease, idiopathic|Parkinson disease, in heterozygosity, association|Parkinson disease, late-onset|Parkinson disease, sporadic, reduced risk|Parkinson disease.|Parkinsonism, juvenile, autosomal recessive|Parkinsonism, late-onset, association with|Rolandic epilepsy |Parkinson disease, autosomal recessive|Parkinson disease, association with|Parkinson disease with resting leg tremor|Attention deficit hyperactivity disorder |Autism spectrum disorder|Cervical artery dissection|Dementia with Lewy bodies|Developmental delay  |Dystonia, dopa-responsive|Leprosy, association with|Lewy bodies|Lung adenocarcinoma   |Multiple system atrophy, cerebellar subtype|Parkinson disease|Parkinson disease with dementia.|Parkinson disease with Lewy bodies	COSMIC,ICGC,
chr17	54647493	54647493	A	C	intergenic	ANKFN1,NOG	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,integument phenotype	-,Teunissen-Cremers syndrome|Tarsal/carpal coalition syndrome|Symphalangism, proximal & conductive hearing loss|Symphalangism, proximal|Symphalangism, joint contractures, hyperopia, hearing loss & tracheo-oesophageal fistula|Symphalangism, facial dysmorphology, intellectual disability, ADHD & hearing loss|Stapes ankylosis with broad thumb and toes|Premature ovarian failure and proximal symphalangism|Multiple synostosis syndrome 1, facial dysmorphism & mental retardation|Multiple synostoses syndrome|Fibrodysplasia ossificans progressiva|Facioaudiosymphalangism syndrome|Brachydactyly, type B	ICGC,
chr7	57881690	57881690	C	T	intergenic	ZNF716,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr5	63952086	63952086	T	C	intergenic	RGS7BP,FAM159B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	behavior/neurological phenotype,-	-,-	ICGC,
chr3	169000829	169000829	G	A	intronic	MECOM	unknown	SNV	-	-	-	6.478e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Decreased expression|Thrombocytopaenia with aplastic anaemia	ICGC,
chr11	29977532	29977532	C	T	intergenic	MIR8068,KCNA4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25563868	-	MALY-DE|1|241|0.00415	-	-	-,behavior/neurological phenotype	-,-	COSMIC,ICGC,
chr2	149104699	149104699	G	A	intronic	MBD5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22049469	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	-	Seizures, developmental delay & dysmorphic features|Psychological and neurodevelopmental abnormalities|Mental retardation |Lennox-Gastaut syndrome |Kleefstra syndrome|Intellectual disability and epilepsy|Intellectual disability & autistic features|Intellectual disability  |2q23.1 microdeletion syndrome|Autism|Autism spectrum disorder  |Autism spectrum disorder, association with|Developmental delay and obesity|Developmental delay, postnatal microcephaly & facial anomalies	COSMIC,COSMIC,ICGC,
chr12	113405545	113405545	C	T	intronic	OAS3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	Autism spectrum disorder	ICGC,
chr7	52086894	52086894	G	A	intergenic	COBL,POM121L12	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	nervous system phenotype,-	-,-	ICGC,
chr3	157618505	157618505	C	G	intergenic	C3orf55,SHOX2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24517629	-	GACA-CN|1|123|0.00813	-	-	-,mortality/aging	-,Schizophrenia	COSMIC,ICGC,
chr1	221436225	221436225	G	A	intergenic	HLX,C1orf140	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Asthma, association with|Diaphragmatic hernia, congenital ,-	ICGC,
chr21	34313218	34313218	G	C	intergenic	C21orf62,OLIG2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	skeleton phenotype,mortality/aging	-,-	ICGC,
chr2	124721517	124721517	G	A	intergenic	NONE,CNTNAP5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Autism	ICGC,
chr4	65931361	65931361	A	G	intergenic	LOC401134,EPHA5	unknown	SNV	-	-	-	0.0687	rs28634732	-	0.0537141	-	0.109	-	-	ESAD-UK|1|301|0.00332	-	-	-,nervous system phenotype	-,Mental retardation|Dravet syndrome  |Attention deficit hyperactivity disorder & learning disabilities|Alzheimer disease  	ICGC,
chr17	68804009	68804009	T	C	intergenic	KCNJ2,CASC17	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Long QT syndrome|Long QT syndrome.|Periodic paralysis|Short QT syndrome|Short QT syndrome 3|Sudden cardiac death  |Ventricular tachycardia|Catecholaminergic polymorphic ventricular tachycardia.|Atrial fibrillation.|Andersen syndrome|Andersen syndrome & catecholaminergic polymorphic ventricular tachycardia mimickry|Andersen-Tawil syndrome|Andersen-Tawil syndrome, without cardiac involvement|Andersen-Tawil syndrome.|Arrhythmia|Atrial fibrillation,-	ICGC,
chr3	133387227	133387227	A	G	intergenic	TOPBP1,TF	unknown	SNV	-	-	-	0.0006	rs151031009	-	0.000599042	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	mortality/aging,mortality/aging	Breast and/or ovarian cancer, increased risk, association with|Pulmonary arterial hypertension|Pulmonary arterial hypertension ?,Iron deficiency anaemia, susceptibility association with|Macular degeneration in smokers, age related, increased risk|Transferrin levels|Transferrin variant|Hypotransferrinemia|Hypochromic microcytic anaemia & haemosiderosis|Congenital disorder of glycosylation 1  |Carbohydrate-deficient transferrin levels, association with|Atransferrinaemia|Alzheimer disease, association with|Altered promoter activity	ICGC,
chr18	65189469	65189469	C	T	ncRNA_intronic	LOC643542	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN14451465	-	PACA-AU|1|391|0.00256	-	-	-	-	COSMIC,ICGC,
chr2	88738042	88738042	C	T	intergenic	THNSL2,FOXI3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr1	78999191	78999191	C	T	intronic	PTGFR	unknown	SNV	-	-	-	3.23e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	reproductive system phenotype	-	ICGC,
chr6	107518738	107518738	C	T	intronic	PDSS2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	mortality/aging	Leigh syndrome with nephropathy and COQ10 deficiency	ICGC,
chr18	62441417	62441417	G	A	intergenic	LOC284294,CDH7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr12	49304156	49304156	G	A	intronic	CCDC65	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	Primary ciliary dyskinesia  	ICGC,
chr9	65504682	65504682	C	T	exonic	SPATA31A5,SPATA31A7	nonsynonymous	SNV	-	-	-	-	-	-	-	-	-	COSM4007238	-	BLCA-CN|1|103|0.00971	-	-	-,-	-,-	COSMIC,ICGC,
chr10	26211337	26211337	C	T	intergenic	LINC00836,LOC101929073	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21581246	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr3	117818593	117818593	A	C	intergenic	LINC00901,IGSF11	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr5	11611354	11611354	G	A	intronic	CTNND2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	behavior/neurological phenotype	Schizophrenia  |Lennox-Gastaut syndrome |Autism spectrum disorder|Anorectal malformation|Altered localisation	ICGC,
chr3	50596024	50596024	-	A	UTR3	C3orf18	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN15419168	-	-	-	-	-	-	COSMIC,
chr16	60580156	60580156	A	-	intergenic	LOC729159,CDH8	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,integument phenotype	-,Learning disability  |Autism & learning disability 	ICGC,
chrX	85449256	85449256	C	T	intronic	DACH2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	normal phenotype	-	ICGC,
chr12	129484421	129484421	A	-	intergenic	GLT1D1,TMEM132D	unknown	deletion	-	-	-	-	rs148242392	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,Panic disorder  	ICGC,
chr7	81512779	81512779	T	A	intergenic	HGF,CACNA2D1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	mortality/aging,behavior/neurological phenotype	Systemic sclerosis with end-stage lung disease, assoc with|Lymphoedema |Hearing loss, non-syndromic|Breast cancer, earlier onset, association with,Short QT syndrome|Schizophrenia  |Histiocytoid cardiomyopathy|Epileptic encephalopathy  |Brugada syndrome    	ICGC,
chr5	63956141	63956141	A	G	intergenic	RGS7BP,FAM159B	unknown	SNV	-	-	-	0.4021	rs74512450	-	0.316693	-	0.304	-	-	ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488	-	-	behavior/neurological phenotype,-	-,-	ICGC,
chr19	17329076	17329076	A	C	intronic	USE1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	mortality/aging	-	ICGC,
chrX	141025398	141025398	C	T	intergenic	MAGEC1,MAGEC2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	Prostate cancer, predisposition to,-	ICGC,
chr3	88738039	88738039	G	A	intergenic	C3orf38,EPHA3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	-,mortality/aging	-,Oligozoospermia|Schizophrenia    |Sertoli-cell-only syndrome	ICGC,
chr2	19903917	19903917	G	A	intergenic	OSR1,LINC00954	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,-	Reduced newborn kidney size and function, association,-	ICGC,
chr11	48238917	48238917	G	T	exonic	OR4B1	nonsynonymous	SNV	0.034	0.254	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr1	231250419	231250419	C	T	intergenic	FAM89A,TRIM67	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr1	249061098	249061098	T	C	intergenic	LYPD8,SH3BP5L	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27637868	-	NKTL-SG|1|50|0.02000	-	-	-,-	-,-	COSMIC,ICGC,
chr1	78936052	78936052	G	T	intergenic	MGC27382,PTGFR	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24447278	-	GACA-CN|1|123|0.00813	-	-	-,reproductive system phenotype	-,-	COSMIC,ICGC,
chr1	160783670	160783670	C	T	exonic	LY9	synonymous	SNV	-	-	-	-	rs576735362	1.652e-05	0.000399361	-	-	COSM6009576	-	-	-	-	hematopoietic system phenotype	-	COSMIC,
chr17	18767544	18767544	C	T	intronic	PRPSAP2	unknown	SNV	-	-	-	0.0326	rs117164639	-	0.0145767	-	0.014	COSN6654505	-	-	-	-	hematopoietic system phenotype	-	COSMIC,
chr13	19479864	19479864	G	C	ncRNA_intronic	LINC00408	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19521059	-	-	-	-	-	-	COSMIC,
chr4	59024104	59024104	A	C	intergenic	IGFBP7-AS1,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16856433	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	COSMIC,ICGC,
chr20	48537122	48537122	-	T	intergenic	SPATA2,RNF114	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,Psoriasis, susceptibility to 	ICGC,
chrX	9711685	9711685	G	T	exonic	GPR143	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM388749	-	-	-	-	vision/eye phenotype	Ocular albinism|Nystagmus, X-linked|Albinism, ocular, X-linked|Albinism, ocular|Albinism 	COSMIC,
chr4	53306746	53306746	C	T	intergenic	SPATA18,USP46	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,behavior/neurological phenotype	-,Autism 	ICGC,
chr17	65850855	65850855	G	T	exonic	BPTF	nonsynonymous	SNV	0.014	1.0	-	-	-	-	-	-	-	-	LUAD|1|543|0.00184	-	-	-	mortality/aging	-	TCGA,
chr8	105056740	105056740	G	T	intronic	RIMS2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging	-	ICGC,
chr5	156141285	156141285	C	T	intronic	SGCD	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Muscular dystrophy, limb girdle 2F|Muscular dystrophy, limb girdle 2 |Muscular dystrophy, limb girdle|Cardiomyopathy, dilated|Anorectal malformation	ICGC,
chr11	40177453	40177453	G	A	intronic	LRRC4C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr5	26998925	26998925	T	A	intronic	CDH9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-AU|1|391|0.00256	-	-	-	-	ICGC,
chr6	33494858	33494858	-	T	intergenic	ZBTB9,BAK1	unknown	insertion	-	-	-	0.0044	-	-	-	-	-	COSN27541758	-	-	-	-	-,mortality/aging	-,-	COSMIC,COSMIC,
chr7	83108592	83108592	T	C	intronic	SEMA3E	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	vision/eye phenotype	CHARGE syndrome|Tetralogy of Fallot	ICGC,
chr1	192593158	192593158	T	C	intergenic	RGS1,RGS13	unknown	SNV	-	-	-	0.9135	rs7413087	-	0.892173	-	0.406	-	-	SKCA-BR|1|100|0.01000	-	-	hematopoietic system phenotype,immune system phenotype	-,-	ICGC,
chr3	112668606	112668606	A	T	intronic	CD200R1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	immune system phenotype	-	ICGC,
chr11	134043043	134043043	G	A	intronic	NCAPD3	unknown	SNV	-	-	-	-	rs536545240	-	0.000399361	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr20	38802080	38802080	T	A	intergenic	LINC01370,MAFB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-,mortality/aging	-,Multicentric carpotarsal osteolysis|Intellectual and developmental disabilities|Cleft lip  	ICGC,
chr4	45178948	45178948	C	A	intergenic	GNPDA2,GABRG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	ICGC,
chr13	23977054	23977054	C	T	intronic	SACS	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16680474	-	PACA-CA|1|268|0.00373	-	-	-	Sacsin-related ataxia|Spastic ataxia|Spastic ataxia, Charlevoix-Saguenay|Spastic paraplegia, non-ataxic, and peripheral neuropathy|Neuropathy, prominent sensorimotor|Muscular dystrophy, limb girdle|Cerebellar ataxia  |Ataxia, early-onset|Ataxia|ARSACS without leg spasticity 	COSMIC,ICGC,
chr20	7236308	7236308	A	G	intergenic	LINC01428,LOC101929312	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr17	77404447	77404447	G	A	intronic	RBFOX3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	integument phenotype	Developmental delay  |Epilepsy, rolandic  	ICGC,
chr12	103324148	103324148	C	T	intergenic	PAH,ASCL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,integument phenotype	Schizophrenia, association with  |Schizophrenia|Schizoaffective disorder|Phenylketonuria.|Phenylketonuria|Increased activity |Hyperphenylalaninaemia, mild|Hyperphenylalaninaemia,Central hypoventilation syndrome|Intellectual disability  |Parkinson disease, protection against 	ICGC,
chr10	111314135	111314135	T	-	intergenic	RNU6-53P,XPNPEP1	unknown	deletion	-	-	-	3.238e-05	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	ICGC,
chr5	3969298	3969298	A	G	intergenic	IRX1,LOC101929153	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr20	4171983	4171983	C	A	intergenic	SMOX,LINC01433	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22309357	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	-,-	-,-	COSMIC,COSMIC,ICGC,
chr1	56510167	56510167	-	CAGATAGAT	intergenic	MIR4422,PPAP2B	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|2|100|0.02000	-	-	-,mortality/aging	-,-	ICGC,
chr21	42053415	42053417	CTT	-	intronic	DSCAM	unknown	deletion	-	-	-	-	rs760358773	-	-	-	-	-	-	LMS-FR|4|67|0.05970	-	-	mortality/aging	Bipolar disorder, association with 	ICGC,
chr17	62186070	62186070	A	G	intronic	ERN1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20593266	-	BRCA-EU|1|569|0.00176	-	-	integument phenotype	-	COSMIC,ICGC,
chr9	139221745	139221745	C	G	ncRNA_exonic	DKFZP434A062	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15451177	-	OV-AU|1|93|0.01075	-	-	-	-	COSMIC,ICGC,
chr7	18280310	18280310	T	G	intronic	HDAC9	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19070018	-	CLLE-ES|1|510|0.00196	-	-	mortality/aging	Peters' anomaly |Immunodeficiency, common variable, association with  	COSMIC,ICGC,
chr10	127946127	127946127	T	G	intronic	ADAM12	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Osteoarthritis in males, association with	ICGC,
chr2	207908179	207908179	T	A	intergenic	CPO,KLF7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,integument phenotype	-,Diabetes, type 2, association with	ICGC,
chr4	130294055	130294055	T	A	intergenic	C4orf33,LOC101927282	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-,-	-,-	ICGC,
chr21	25226005	25226005	A	C	intergenic	D21S2088E,LOC101927869	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8902447	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr12	119332483	119332483	T	A	intergenic	SUDS3,SRRM4	unknown	SNV	-	-	-	0.0002	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	mortality/aging,-	-,-	ICGC,
chr13	65402003	65402003	G	C	intergenic	OR7E156P,PCDH9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr6	98309945	98309945	C	T	intergenic	LOC101927314,MIR2113	unknown	SNV	-	-	-	3.239e-05	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	ICGC,
chr1	205384226	205384226	G	A	intronic	LEMD1	unknown	SNV	-	-	-	3.231e-05	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr10	135194825	135194828	ACCT	-	intronic	PAOX	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr4	102803111	102803111	G	T	intronic	BANK1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype	Systemic sclerosis, susceptibility to, association with|Systemic lupus erythematosus, protection against, association|Rheumatoid arthritis|Psoriasis, early disease onset, association with.|Diffuse systemic sclerosis, susceptibility to, association with	ICGC,
chr11	20252346	20252346	A	T	intergenic	DBX1,HTATIP2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN10082746	-	RECA-EU|1|422|0.00237	-	-	mortality/aging,integument phenotype	-,-	COSMIC,ICGC,
chrX	34206843	34206843	G	A	intergenic	FAM47A,TMEM47	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|2|183|0.01093	-	-	-,-	-,Intellectual disability & language delay	ICGC,
chr1	73960752	73960752	T	G	intergenic	LINC01360,LRRIQ3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	-,-	ICGC,
chr13	19860124	19860124	A	T	ncRNA_intronic	ANKRD26P3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr19	59059687	59059687	C	T	exonic	TRIM28	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM3540826	SKCM|1|368|0.00272	SKCM-US|1|335|0.00299,MELA-AU|1|183|0.00546	-	-	mortality/aging	-	COSMIC,TCGA,ICGC,
chr11	105916801	105916801	T	A	intergenic	MSANTD4,KBTBD3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	ICGC,
chr5	130061229	130061229	C	T	intergenic	CHSY3,HINT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,cellular phenotype	-,Axonal neuropathy with neuromyotonia	ICGC,
chr3	190280165	190280165	T	G	intronic	IL1RAP	unknown	SNV	-	-	-	0.2294	rs3773981	-	0.238019	-	0.268	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype	-	ICGC,
chr4	174650134	174650134	C	T	intergenic	HAND2-AS1,FBXO8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	48033710	48033710	-	CTCCCAGAGGAAGTTATTC	exonic	MSH6	frameshift	insertion	-	-	-	-	-	-	-	-	-	-	-	-	Lynch_syndrome	-	integument phenotype	Muir-Torre syndrome.|Muir-Torre syndrome|MMR deficiency|Mismatch repair defect |Lynch syndrome-associated breast cancer.|Increased risk of urothelial cancer in HNPCC patients|Impaired DNA repair |Multiple colorectal adenoma |Neurofibromatosis, type 1|Ovarian / endometrial carcinoma|Ovarian cancer |Ovarian carcinoma|Potential protein deficiency|Prostate cancer  |T-cell acute lymphoblastic lymphoma|Turcot syndrome|Endometrial cancer.|Endometrial cancer ?|Endometrial cancer|Breast cancer predisposition |Breast cancer, predisposition |Breast carcinoma|Cafe-au-lait, oligodendroglioma, rectal cancer|Cancer, hereditary|Colon cancer|Colon cancer, breast cancer, leukaemia|Colorectal / endometrial cancer|Colorectal cancer|CpG island methylator phenotype in colon cancer, association with|Constitutional mismatch repair-deficiency syndrome|Colorectal cancer.|Colorectal cancer, non-polyposis.|Colorectal cancer, non-polyposis|Colorectal cancer, early onset|Colorectal cancer, association with 	ClinVar,
chr2	220431652	220431652	C	T	exonic	OBSL1	synonymous	SNV	-	-	4.07e-06	-	rs781573499	8.327e-06	-	-	-	COSM5812020	-	LICA-CN|1|402|0.00249	-	-	-	3-M syndrome|Autism	COSMIC,COSMIC,COSMIC,ICGC,
chr17	40016171	40016194	ACTAAGTCCCCAGAACCGAGAAGA	-	intronic	KLHL11	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-	-	ICGC,
chr12	81050919	81050919	G	A	intronic	PTPRQ	unknown	SNV	-	-	-	-	rs777850796	-	-	-	-	COSN19555693	-	-	-	-	behavior/neurological phenotype	Deafness, non-syndromic |Hearing loss  |Nonsyndromic hearing impairment DFNB84	COSMIC,
chr2	193719020	193719020	T	G	intergenic	PCGEM1,LOC101927406	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8276268	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	COSMIC,ICGC,
chr10	37035757	37035757	-	TGTTCT	intergenic	LINC01452,ANKRD30A	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr13	32885904	32885904	C	T	exonic	ZAR1L	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM946754	UCEC|1|248|0.00403	ESAD-UK|1|301|0.00332,GACA-CN|1|123|0.00813,UCEC-US|1|250|0.00400	-	-	-	-	COSMIC,TCGA,ICGC,
chr8	34085398	34085398	-	AT	intergenic	DUSP26,UNC5D	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr9	82714832	82714832	T	A	intergenic	LOC101927477,TLE1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr14	94770276	94770276	G	A	downstream	SERPINA6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|4|183|0.02186	-	-	immune system phenotype	Reduced cortisol binding capacity|Higher CBG levels|Corticosteroid-binding globulin deficiency|Chronic pain, increased propensity	ICGC,
chr3	164847891	164847891	T	A	intergenic	SI,SLITRK3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-,-	Sucrase isomaltase deficiency,-	ICGC,
chr12	7154458	7154458	C	T	intergenic	LPCAT3,C1S	unknown	SNV	-	-	-	0.0002	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,Complement C1S abnormality|Complement C1S deficiency|Haemolytic uraemic syndrome, atypical	ICGC,
chr6	95835084	95835084	C	T	intergenic	TSG1,MANEA-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr8	17410232	17410232	G	T	intronic	SLC7A2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1362068	-	LINC-JP|1|394|0.00254	-	-	immune system phenotype	Infantile encephalopathy with anorexia	COSMIC,ICGC,
chr5	33937272	33937272	G	A	exonic	RXFP3	nonsynonymous	SNV	0.006	1.0	-	-	-	-	-	-	-	COSM6770837	-	-	-	-	-	-	COSMIC,
chr12	21097720	21097720	T	C	intergenic	SLCO1B3,SLCO1B7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Rotor syndrome|Decreased protein expression|Altered substrate specificity,Schizophrenia	ICGC,
chr3	146886256	146886256	T	A	intergenic	PLSCR5,ZIC4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,mortality/aging	-,-	ICGC,
chr9	11042215	11042215	C	G	intergenic	PTPRD-AS2,TYRP1	unknown	SNV	-	-	-	0.3759	rs1556579	-	0.539537	-	0.478	COSN14848244	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	-,Albinism, oculocutaneous  |Albinism, oculocutaneous 3|Melanesian blond hair	COSMIC,ICGC,
chr11	131659167	131659167	C	T	intronic	NTM	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Aortic aneurysm, thoracic & intracranial|Potential protein deficiency	ICGC,
chr3	163567857	163567857	T	A	intergenic	LINC01192,SI	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PAEN-IT|1|37|0.02703	-	-	-,-	-,Sucrase isomaltase deficiency	ICGC,
chr12	75085569	75085569	A	T	intergenic	ATXN7L3B,KCNC2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,behavior/neurological phenotype	-,Neurodevelopmental delay and ataxia	ICGC,
chr12	13669178	13669178	C	T	intergenic	C12orf36,GRIN2B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Mental retardation, behavioural anomalies & abnormal EEG|Potential protein deficiency|Schizophrenia, association with|Schizophrenia, association with.|West syndrome|Mental retardation with behavioural anomalies|Intellectual disability  |Huntington disease, earlier onset in females, association with|Focal epilepsy & intellectual disability|Autism spectrum disorder|Autism|Alzheimer disease, increased risk, association with	ICGC,
chr10	31441885	31441885	G	A	intergenic	ZNF438,ZEB1-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr15	53938428	53938428	G	A	intronic	WDR72	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Amelogenesis imperfecta|Hypomaturation amelogenesis imperfecta	ICGC,
chr7	147876117	147876117	G	A	ncRNA_intronic	MIR548T	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	-	ICGC,
chr13	84143252	84143252	G	T	intergenic	NONE,SLITRK1	unknown	SNV	-	-	-	0.0011	rs562448364	-	0.000199681	-	0.007	-	-	MALY-DE|1|241|0.00415	-	-	-,mortality/aging	-,Trichotillomania|Tourette syndrome|Obsessive-compulsive disorder |Attention deficit hyperactivity disorder 	ICGC,
chr18	15153396	15153396	C	T	intergenic	LINC01443,LOC644669	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr1	112842356	112842356	G	T	intergenic	LOC643355,CTTNBP2NL	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7172377	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	COSMIC,ICGC,
chr5	11461665	11461665	C	T	intronic	CTNND2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	Schizophrenia  |Lennox-Gastaut syndrome |Autism spectrum disorder|Anorectal malformation|Altered localisation	ICGC,
chr1	88081159	88081159	C	T	intergenic	LINC01364,PKN2-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr8	106522129	106522129	G	C	intronic	ZFPM2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	integument phenotype	Atrial septal defect & gonadal dysgenesis|Diaphragmatic hernia, congenital|Double outlet right ventricle |Gonadal dysgenesis |Reduced activity|Tetralogy of Fallot 	ICGC,
chr20	53887467	53887467	C	T	intergenic	DOK5,LINC01441	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	14981398	14981398	G	A	intergenic	LOC653602,NBAS	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Short stature, optic atrophy & Pelger-Huet 	ICGC,
chrX	137071306	137071306	A	T	intergenic	ZIC3,LINC00889	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	mortality/aging,-	Situs abnormality|Heterotaxy|Congenital heart disease |Cardiac malformation,-	ICGC,
chr2	234629367	234629367	C	T	intronic	UGT1A10,UGT1A4,UGT1A5,UGT1A6,UGT1A7,UGT1A8,UGT1A9	unknown	SNV	-	-	-	0.0461	rs79687488	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-,-,-,-,-,-	Reduced activity|Orolaryngeal carcinoma, risk, association with,Reduced expression|Potential protein deficiency|Null allele |Increased promoter activity|Decreased activity|Crigler-Najjar syndrome 2,UDP glucuronosyltransferase deficiency,UDP glycosyltransferase deficiency|Reduced activity|Lung cancer, reduced risk  |Lung cancer, increased risk|Bladder cancer, protection against, association with|Altered enzyme activity|Altered deferiprone response|Adverse deferiprone response,UDP glycosyltransferase deficiency|Reduced promoter activity|Reduced catalytic activity, association with|Reduced catalytic activity|Gastrointestinal cancer, association with,Reduced activity,Increased expression|Orofacial clefting |Reduced activity|UDP glycosyltransferase deficiency	ICGC,
chr7	46580193	46580193	C	A	intergenic	IGFBP3,TNS3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19039246	-	CLLE-ES|1|510|0.00196	-	-	behavior/neurological phenotype,mortality/aging	Prostate cancer, increased risk|Plasma IGFBP-3 levels, association with|Pancreatic cancer, clinical outcome, association with|Lung cancer, increased risk, association with|Increased IGFBP-3 levels, association with|IGFBP-3 levels|Higher promoter activity, association with|Drug response, association with|Decreased IGFBP-3 levels, association with|Colorectal cancer, association with,Renal agenesis, pulmonary infections & growth/developmental delay	COSMIC,ICGC,
chr4	91143281	91143281	C	T	intronic	CCSER1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22585026	-	BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr13	38208666	38208666	A	C	intergenic	POSTN,TRPC4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,cardiovascular system phenotype	Bone mineral density and vertebral fracture, association with,Myocardial infarction, reduced risk, association with	ICGC,
chr7	142099915	142099915	C	T	intergenic	TRY2P,MTRNR2L6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	LUAD|1|543|0.00184	-	-	-	-,-	-,-	TCGA,
chr5	20362735	20362735	-	GAATTCC	intronic	CDH18	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-	Anorectal malformation	ICGC,
chrX	100767868	100767868	G	A	intergenic	ARMCX4,ARMCX1	unknown	SNV	-	-	-	0.0001	rs868951709	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr2	64795277	64795277	A	T	intronic	AFTPH	unknown	SNV	-	-	-	0.3560	rs7575214	-	0.326478	-	0.333	-	-	LAML-KR|1|205|0.00488	-	-	-	-	ICGC,
chr11	51379168	51379168	A	C	intergenic	LOC646813,OR4A5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr3	45123832	45123832	G	A	UTR3	CDCP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	normal phenotype	-	ICGC,
chr21	44462714	44462714	T	C	intergenic	PKNOX1,CBS	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	integument phenotype,integument phenotype	Congenital heart defects,Stroke, association with.|Schizophrenia, protection against, association with|Reduced plasma homocysteine levels, association with|Myelomeningocele|Homocystinuria, association with|Homocystinuria|High methylation in males, association with|Coronary artery disease, decreased risk|CBS deficiency|Altered one-carbon metabolism|Altered enzyme activity	ICGC,
chr3	105728828	105728828	A	T	intergenic	CBLB,LINC00882	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Diabetes, type 1,-	ICGC,
chr14	47622622	47622622	T	G	intronic	MDGA2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	skeleton phenotype	-	ICGC,
chr3	96652600	96652600	GT	AA	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr18	15040780	15040780	G	A	intergenic	LINC01443,LOC644669	unknown	SNV	-	-	-	0.0002	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr15	55249899	55249899	G	A	intergenic	UNC13C,RSL24D1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	behavior/neurological phenotype,-	Developmental delay  ,-	ICGC,
chr12	41973016	41973016	G	A	intergenic	PDZRN4,GXYLT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr7	151167382	151167382	A	C	intronic	RHEB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	mortality/aging	-	ICGC,
chr4	69945870	69945870	C	T	intergenic	UGT2B10,UGT2B7	unknown	SNV	-	-	-	9.714e-05	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	Autism|Lower nicotine consumption in smokers|Potential protein deficiency|Reduced enzyme activity,Altered mRNA expression|Altered promoter activity|Bladder cancer in benzidine-exposed workers, association with|Reduced binding capacity	ICGC,
chr3	75972241	75972241	C	T	intergenic	ZNF717,ROBO2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,mortality/aging	Potential protein deficiency,Autism spectrum disorder  |Urinary tract anomalies|Vesicoureteral reflux	ICGC,
chr14	43053347	43053349	ATG	-	intergenic	LRFN5,FSCB	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|2|100|0.02000	-	-	-,-	Short stature|Developmental delay, seizures & learning problems ,Tourette syndrome 	ICGC,
chr6	161360856	161360856	C	A	intergenic	PLG,MAP3K4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	integument phenotype,mortality/aging	Plasminogen deficiency, severe type I|Plasminogen deficiency|Invasive aspergillosis, susceptibility|Haemolytic uraemic syndrome, atypical.|Haemolytic uraemic syndrome, atypical,-	ICGC,
chr2	53762199	53762199	C	T	intergenic	NONE,ASB3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr12	73057338	73057338	-	T	UTR3	TRHDE	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN17076106	-	-	-	-	no phenotypic analysis	-	COSMIC,
chr8	89611015	89611015	G	A	intergenic	MMP16,RIPK2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,hematopoietic system phenotype	-,Autism spectrum disorder	ICGC,
chr3	135460122	135460122	C	T	intergenic	EPHB1,PPP2R3A	unknown	SNV	-	-	-	6.467e-05	rs548735497	-	0.000199681	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	vision/eye phenotype,-	-,-	ICGC,
chr18	57051805	57051805	C	T	intergenic	LMAN1,CCBE1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,mortality/aging	Factor V and factor VIII deficiency, combined,Lymph vessel dysplasia|Lymphoedema-cholestasis syndrome|Lymphoedema, primary.	ICGC,
chr19	1199937	1199937	C	T	intergenic	SBNO2,STK11	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Sotos-like syndrome|Peutz-Jeghers syndrome with pancreatic cancer|Peutz-Jeghers syndrome with distal bile duct / ampullary cancer|Peutz-Jeghers syndrome with developmental delay, cleft palate & seizures|Peutz-Jeghers syndrome with congenital heart defect, high myopia, learning difficulties & dysmorphic features|Peutz-Jeghers syndrome |Juvenile polyposis coli|Gonadotrophin-independent precocious puberty|Gastrointestinal polyposis|Breast and/or ovarian cancer 	ICGC,
chr10	55802813	55802813	T	G	intronic	PCDH15	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	vision/eye phenotype	Usher syndrome II|Usher syndrome 1f|Usher syndrome 1|Lipid levels in hyperlipidaemia, association with|Hearing loss, non-syndromic|Deafness, non-syndromic, autosomal recessive|Deafness, non-syndromic |Deafness  	ICGC,
chr10	123419914	123419914	T	G	intergenic	FGFR2,ATE1	unknown	SNV	-	-	-	0.0170	rs561615289	-	0.0163738	-	-	COSN26083404	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,integument phenotype	Crouzon syndrome with ventricular septal defect.|Crouzon syndrome, atypical|Crouzon syndrome.|Hypospadias |Jackson-Weiss syndrome|Lacrimo-auriculo-dento-digital syndrome|Pfeiffer syndrome|Pfeiffer syndrome, Crouzon syndrome.|Pfeiffer syndrome.|Reduced transcription|Saethre-Chotzen syndrome|Saethre-Chotzen-like|Crouzon syndrome with atrial septal defect.|Crouzon syndrome|Antley-Bixler syndrome|Antley-Bixler, Beare-Stevenson & Pfeiffer syndromes|Apert syndrome|Beare-Stevenson cutis gyrata syndrome|Bent bone dysplasia |Breast cancer, association with.|Breast cancer, increased risk, association with|Breast cancer, reduced risk, association with|Cleft lip and palate|Cleft lip, non-syndromic |Craniosynostosis|Craniosynostosis, predisposition to ,Hearing impairment and tinnitus	COSMIC,ICGC,
chr4	71215623	71215623	C	T	intergenic	CABS1,SMR3A	unknown	SNV	-	-	-	9.735e-05	-	-	-	-	-	COSN16275477	-	PRAD-CA|1|308|0.00325	-	-	-,-	-,-	COSMIC,ICGC,
chr5	17789882	17789882	G	A	intergenic	LOC401177,CDH18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Anorectal malformation	ICGC,
chr1	53193775	53193798	TAAGTTCTAGGTAGCAACCGTTCC	-	intronic	ZYG11B	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr3	142595380	142595380	G	A	intronic	PCOLCE2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	immune system phenotype	Potential protein deficiency	ICGC,
chr8	35383251	35383251	C	T	intronic	UNC5D	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-	-	ICGC,
chr4	138366770	138366770	C	T	intergenic	LINC00613,PCDH18	unknown	SNV	-	-	-	6.474e-05	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,Intellectual disability  	ICGC,
chr2	209190148	209190148	C	T	exonic	PIKFYVE	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM4395938	SKCM|1|368|0.00272	SKCM-US|1|335|0.00299	-	-	mortality/aging	Fleck corneal dystrophy	COSMIC,TCGA,ICGC,
chr12	92652154	92652154	G	A	intergenic	BTG1,CLLU1OS	unknown	SNV	-	-	-	3.231e-05	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	Keratosis pilaris,-	ICGC,
chrX	146177455	146177455	C	A	intergenic	CXorf51A,MIR506	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr5	20076922	20076922	C	T	intronic	CDH18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	Anorectal malformation	ICGC,
chr6	41969003	41969003	C	T	intronic	CCND3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	-	ICGC,
chr9	123754670	123754670	C	T	intronic	C5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	skeleton phenotype	Poor eculizumab response|Macular degeneration, age-related, association with|Ischemic stroke, association with |Complement C5 deficiency	ICGC,
chrX	112892191	112892191	C	T	intergenic	LOC101928437,HTR2C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,integument phenotype	-,Tourette syndrome, association with|Tardive dyskinesia, association with|Suicide, association with|Reduced promoter activity|Premature ejaculation, association with|Increased promoter activity, association with|Hallucinations, in Alzheimer disease, association|Greater dopamine release|Alcohol use disorder comorbidity, association with|Anxiety, and Appetite disturbances in females, in Alzheimer disease, association with.|Bipolar affective disorder, association with|BMI, association with|Depression, in Alzheimer disease, association with.|Diabetes, association with	ICGC,
chr2	217437363	217437363	T	G	intergenic	RPL37A,LINC01280	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	ICGC,
chr14	43723851	43723851	G	A	intergenic	LRFN5,FSCB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	Short stature|Developmental delay, seizures & learning problems ,Tourette syndrome 	ICGC,
chr10	12460747	12460747	G	A	intronic	CAMK1D	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chrX	145011318	145011318	-	GCT	intergenic	TMEM257,MIR892C	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PAEN-AU|1|52|0.01923	-	-	-,-	-,-	ICGC,
chr2	238887742	238887742	G	A	ncRNA_intronic	UBE2F-SCLY	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr13	84881372	84881372	C	T	ncRNA_intronic	LINC00333	unknown	SNV	-	-	-	3.232e-05	rs781130376	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr20	23316509	23316509	-	TA	intergenic	LINC00656,NXT1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr8	55596157	55596157	C	T	intergenic	RP1,XKR4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	vision/eye phenotype,-	Retinitis pigmentosa, early-onset|Retinitis pigmentosa, autosomal recessive.|Retinitis pigmentosa, autosomal recessive|Retinitis pigmentosa, autosomal dominant|Retinitis pigmentosa|Potential protein deficiency|Leber congenital amaurosis|Hypertriglyceridaemia, association with|,Glaucoma, primary congenital	ICGC,
chr7	46408182	46408182	A	T	intergenic	IGFBP3,TNS3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2224776	-	LIRI-JP|1|258|0.00388	-	-	behavior/neurological phenotype,mortality/aging	Prostate cancer, increased risk|Plasma IGFBP-3 levels, association with|Pancreatic cancer, clinical outcome, association with|Lung cancer, increased risk, association with|Increased IGFBP-3 levels, association with|IGFBP-3 levels|Higher promoter activity, association with|Drug response, association with|Decreased IGFBP-3 levels, association with|Colorectal cancer, association with,Renal agenesis, pulmonary infections & growth/developmental delay	COSMIC,ICGC,
chr17	69995123	69995123	C	T	intergenic	CASC17,LOC102723505	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	96994184	96994184	G	A	intronic	EPHA6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	Alzheimer disease  	ICGC,
chr6	162446581	162446581	A	G	intronic	PARK2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25313514	-	MALY-DE|1|241|0.00415	-	-	integument phenotype	Parkinson disease, decreased risk|Parkinson disease, early-onset|Parkinson disease, early-onset.|Parkinson disease, familial|Parkinson disease, familial, association with |Parkinson disease, idiopathic|Parkinson disease, in heterozygosity, association|Parkinson disease, late-onset|Parkinson disease, sporadic, reduced risk|Parkinson disease.|Parkinsonism, juvenile, autosomal recessive|Parkinsonism, late-onset, association with|Rolandic epilepsy |Parkinson disease, autosomal recessive|Parkinson disease, association with|Parkinson disease with resting leg tremor|Attention deficit hyperactivity disorder |Autism spectrum disorder|Cervical artery dissection|Dementia with Lewy bodies|Developmental delay  |Dystonia, dopa-responsive|Leprosy, association with|Lewy bodies|Lung adenocarcinoma   |Multiple system atrophy, cerebellar subtype|Parkinson disease|Parkinson disease with dementia.|Parkinson disease with Lewy bodies	COSMIC,ICGC,
chr18	39221664	39221664	A	G	intergenic	KC6,PIK3C3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,Intellectual disability  |Bipolar disorder/schizophrenia association with|Anti-Ro & anti-Sm antibodies, in lupus, in African-Americans, association	ICGC,
chr2	52798537	52798537	C	T	intergenic	NRXN1,ASB3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15328668	-	PRAD-UK|1|140|0.00714	-	-	mortality/aging,-	Hypotonia|Hypotonia & encephalopathy|Increased white matter volume, association with|Intellectual disability  |Intellectual disability & attention deficit hyperactivity disorder|Intellectual disability & hearing loss|Intellectual disability & pervasive developmental disorder|Intellectual disability and autism|Intellectual disability, nonsyndromic |Intellectual disability, seizures, dysmorphisms & language delay|Growth retardation  |Epilepsy, myoclonic seizures & speech delay|Developmental disorder|Developmental disorder & attention deficit hyperactivity disorder|Developmental disorder, seizures & attention deficit hyperactivity disorder|Developmental/intellectual disability, hypotonia & dysmorphic features|Disorder of muscle, ligament & fascia|Encephalopathy  |Epilepsy  |Epilepsy with cognitive impairment / autism spectrum disorder|Epilepsy with focal seizures|Epilepsy, generalised |Intellectual disability, seizures, language delay & hypotonia|Language delay|Learning difficulties|Respiratory distress & sepsis|Respiratory distress syndrome|Schizophrenia |Schizophrenia, childhood onset |Schizophrenia, disorganised type|Seizures, generalized tonic-clonic & attention deficit hyperactivity disorder|Sensory integration disorder & attention deficit hyperactivity disorder|Speech delay & social communication difficulties|Tourette syndrome|Pervasive developmental disorder / hypotonia|Pervasive developmental disorder|Pervasive developmental delay / mental retardation, lack of coordination & hearing loss|Learning difficulties, ADHD & autism|Mental retardation|Mental retardation, autism, vertebral malformations|Mental retardation, Pitt-Hopkins-like|Microcephaly & mental retardation|Multiple congenital anomalies  |Multiple disabilities|Myoclonic epilepsy   |Neurodevelopmental disorder  |Vertebral anomalies|Developmental delay, speech delay & social communication difficulties|Attention deficit hyperactivity disorder |Autism spectrum disorder, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability & language delay|Autism spectrum disorder, intellectual disability, dysmorphisms, developmental delay & language delay|Autism spectrum disorder, intellectual disability, seizures & developmental delay|Autism spectrum disorder, intellectual disability, seizures, developmental delay, language delay & hypotonia|Autism spectrum disorder, intellectual disability, seizures, dysmorphisms & language delay|Autism spectrum disorder, seizures, developmental delay & language delay|Autism, intellectual disability & attention deficit hyperactivity disorder|Autistic disorder|Autism spectrum disorder with developmental & speech delay|Autism spectrum disorder & seizures|Autism spectrum disorder & language delay|Autism |Autism & learning difficulties|Autism & mental retardation|Autism & seizures|Autism spectrum disorder|Autism spectrum disorder & attention deficit hyperactivity disorder|Autism spectrum disorder & developmental delay|Autism spectrum disorder & dysmorphic features|Autism spectrum disorder & intellectual disability|Behavioural problems|Congenital heart defect  |Craniofacial dysmorphism|Developmental delay & speech/motor delay|Developmental delay with early-onset epilepsy|Developmental delay, dysmorphic features & short stature|Developmental delay, epilepsy, autism|Developmental delay, language delay & hypotonia|Developmental delay, learning difficulties, ADHD|Developmental delay, microcephaly & behavioural problems|Developmental delay, pulmonic stenosis & autism spectrum disorder|Developmental delay, short stature and diaphragmatic hernia|Developmental delay, speech delay & microcephaly|Developmental delay & seizures|Developmental delay & seizure disorder|Cystic hygroma, hydrops & micrognathia|Cystic hygroma, shortened upper limbs & fetal demise|Developmental & speech delay|Developmental delay|Developmental delay / autism|Developmental delay & autism|Developmental delay & dysmorphic features|Developmental delay & epilepsy|Developmental delay & hypotonia|Developmental delay & multiple congenital anomalies,-	COSMIC,ICGC,
chr14	70765758	70765758	G	A	intergenic	ADAM21P1,SYNJ2BP-COX16	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr10	21192574	21192574	A	G	intronic	NEBL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Cardiomyopathy, dilated|Cardiomyopathy, dilated & endocardial fibroelastosis	ICGC,
chrX	74911111	74911111	G	A	intergenic	ZDHHC15,TTC3P1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	embryogenesis phenotype,-	Mental retardation, X-linked,-	ICGC,
chrX	145524737	145524737	T	A	intergenic	MIR891A,CXorf51A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr2	125877927	125877927	A	G	intergenic	CNTNAP5,GYPC	unknown	SNV	-	-	-	0.4161	rs4624389	-	0.516174	-	0.522	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	Autism,Glycophorin C variant|Gerbich-negative blood group|Elliptocytosis|Duch blood group	ICGC,
chr4	178759079	178759079	C	T	ncRNA_intronic	LINC01098,LINC01099	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	77334525	77334525	C	A	intronic	ROBO2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16408332	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging	Autism spectrum disorder  |Urinary tract anomalies|Vesicoureteral reflux	COSMIC,ICGC,
chr2	155982092	155982092	C	T	intergenic	KCNJ3,AC093375.1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	cardiovascular system phenotype,-	Schizophrenia, association with  ,-	ICGC,
chr15	69043462	69043462	C	A	intergenic	CORO2B,ANP32A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6278822	-	LIRI-JP|1|258|0.00388	-	-	-,mortality/aging	-,-	COSMIC,ICGC,
chr4	9434300	9434300	T	C	intergenic	USP17L6P,DEFB131	unknown	SNV	-	-	-	0.0244	rs75092264	-	0.033147	-	-	-	-	LAML-KR|1|205|0.00488	-	-	-,-	-,-	ICGC,
chr22	47747236	47747236	C	T	intergenic	TBC1D22A,LOC101927722	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr3	90452070	90452070	C	G	intergenic	EPHA3,NONE	unknown	SNV	-	-	-	-	rs9714267	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,-	Oligozoospermia|Schizophrenia    |Sertoli-cell-only syndrome,-	ICGC,
chr7	129104646	129104646	G	T	intronic	STRIP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr18	6507677	6507678	TT	-	intergenic	L3MBTL4,C18orf64	unknown	deletion	-	-	-	-	-	-	-	-	-	COSN20237697	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	COSMIC,ICGC,
chr15	39130825	39130825	T	C	intergenic	C15orf53,C15orf54	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23972716	-	LAML-KR|1|205|0.00488	-	-	-,-	-,-	COSMIC,ICGC,
chr15	20493278	20493278	C	A	ncRNA_intronic	CHEK2P2	unknown	SNV	-	-	-	0.1537	rs4983822	-	-	-	0.101	COSN27989780	-	SKCA-BR|1|100|0.01000,LUSC-KR|1|170|0.00588	-	-	-	-	COSMIC,COSMIC,COSMIC,ICGC,
chr2	14422503	14422503	G	A	ncRNA_intronic	LINC00276	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr3	39356473	39356473	GG	AA	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr3	49066263	49066263	G	T	intronic	IMPDH2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN18136113	-	-	-	-	mortality/aging	Autism spectrum disorder|Decreased expression|Diminished enzyme activity	COSMIC,
chr3	80198220	80198220	A	C	intergenic	ROBO1,GBE1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19225845	-	CLLE-ES|1|510|0.00196	-	-	mortality/aging,mortality/aging	Developmental dyslexia ,Potential protein deficiency|Polyglucosan body disease, relapsing-remitting form|Polyglucosan body disease, adult|Lethal multiple pterygium syndrome|Glycogen storage disease 4, non-lethal neuromuscular|Glycogen storage disease 4, neonatal|Glycogen storage disease 4|Autism spectrum disorder|Adult polyglucosan body disease	COSMIC,ICGC,
chr14	28958714	28958714	C	T	intergenic	LINC00645,FOXG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|2|100|0.02000	-	-	-,integument phenotype	-,West syndrome |Rett-like syndrome|Rett syndrome|Refractory epilepsy & intellectual impairment|Microcephaly, mental retardation & thin genu of corpus callosum|Mental retardation, speech impairment & epilepsy|Mental retardation & speech impairment|Mental retardation & postnatal microcephaly|Mental retardation & callosum abnormalities|Mental retardation|Infantile spasms|Hemifacial microsomia|Generalized dystonia, athetosis and parkinsonism|Developmental delay, microcephaly & hypoplasia of the corpus callosum|Developmental delay, hypotonia, microcephaly & infantile spasms|Developmental delay & slow head growth|Agenesis of corpus callosum	ICGC,
chr6	103891432	103891432	C	A	intergenic	GRIK2,HACE1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2464173	-	-	-	-	behavior/neurological phenotype,tumorigenesis	Mental retardation, non-syndromic, autosomal recessive,Wilms tumour 	COSMIC,
chr5	16204421	16204421	T	C	intergenic	MARCH11,LOC101929505	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr8	101174641	101174641	G	A	exonic	SPAG1	nonsynonymous	SNV	0.005	1.0	2.847e-05	6.46e-05	rs764448315	3.495e-05	-	-	-	-	BLCA|1|396|0.00253	-	-	-	-	Primary ciliary dyskinesia  	TCGA,
chr4	94763835	94763835	T	C	intergenic	ATOH1,SMARCAD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,mortality/aging	-,Capecitabine sensitivity, association with	ICGC,
chr15	46239730	46239730	G	A	intergenic	SQRDL,SEMA6D	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,immune system phenotype	-,Developmental language disorder 	ICGC,
chr6	114904759	114904759	C	-	intergenic	HS3ST5,FRK	unknown	deletion	-	-	-	-	-	-	-	-	-	COSN20188537	-	PACA-CA|1|268|0.00373	-	-	-,homeostasis/metabolism phenotype	-,Potential protein deficiency	COSMIC,ICGC,
chr8	83259288	83259288	C	T	intergenic	SNX16,LINC01419	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr6	5196284	5196284	G	A	intronic	LYRM4	unknown	SNV	-	-	-	6.462e-05	-	-	-	-	-	COSN7886430	-	PACA-AU|1|391|0.00256	-	-	-	Cognitive deficit in schizophrenia, association with|Gyral pattern anomaly with speech and language disorder|OXPHOS deficiency, combined	COSMIC,ICGC,
chr1	27939584	27939584	C	T	exonic	FGR	nonsynonymous	SNV	0.0	0.991	-	-	-	-	-	-	-	-	-	GBM-US|1|276|0.00362	-	-	hematopoietic system phenotype	-	ICGC,
chr9	24248359	24248359	G	A	intergenic	ELAVL2,IZUMO3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	Schizophrenia, association with  ,-	ICGC,
chr8	124203048	124203048	G	A	intronic	FAM83A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-	-	ICGC,
chr7	30228486	30228486	G	-	intergenic	MTURN,ZNRF2	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	-,-	-,-	ICGC,
chr1	234947928	234947928	C	T	intergenic	LINC01132,TOMM20	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	63530550	63530550	C	T	intronic	RNF180	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr4	107615162	107615162	G	A	intergenic	GIMD1,DKK2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,hematopoietic system phenotype	-,Schizophrenia, association with  	ICGC,
chr18	11479725	11479725	C	T	intergenic	PIEZO2,LINC01255	unknown	SNV	-	-	-	0.0003	rs559738836	-	0.000199681	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	Marden-Walker syndrome|Lung cancer, susceptibility to in never smokers, association with |Gordon syndrome / arthrogryposis, distal, type 5|Gordon syndrome|Arthrogryposis, distal, type 5,-	ICGC,
chr6	7529097	7529097	T	C	intergenic	RIOK1,DSP	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-,integument phenotype	-,Epidermolysis bullosa, lethal acantholytic|Epidermolytic bullous dermatosis with cardiomyopathy|Naxos-Carvajal syndrome|Potential protein deficiency|Skin fragility and woolly hair|Skin fragility, alopecia and cardiomyopathy|Striate palmoplantar keratoderma|Woolly hair/ PPK/cardiomyopathy/mucocutaneous blistering|Ectodermal dysplasia/skin fragility syndrome|Dysplasia, arrhythmogenic right ventricular|Dilated cardiomyopathy, woolly hair, keratoderma|Arrhythmogenic right ventricular dysplasia/cardiomyopathy|Cardiomyopathy, arrhythmogenic left ventricular|Cardiomyopathy, arrhythmogenic right ventricular |Cardiomyopathy, arrhythmogenic, left-dominant|Cardiomyopathy, dilated|Carvajal syndrome|Carvajal/Naxos syndrome|Carvajal/Naxos syndrome with leukonychia and oligodontia	ICGC,
chr5	17724304	17724304	A	G	intergenic	LOC401177,CDH18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,Anorectal malformation	ICGC,
chr5	25039570	25039570	G	A	intergenic	LOC340107,CDH9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr6	80720491	80720491	-	GA	intronic	TTK	unknown	insertion	-	-	-	-	rs199573945	-	-	0.5361	-	COSN18746190	-	-	-	-	reproductive system phenotype	Schizophrenia	COSMIC,COSMIC,
chr17	72428192	72428192	C	T	exonic	GPRC5C	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM4069338	STAD|1|395|0.00253,STES|1|395|0.00253	STAD-US|1|289|0.00346	-	-	hematopoietic system phenotype	-	COSMIC,TCGA,ICGC,
chr3	152251234	152251234	AA	TT	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr8	5668091	5668091	T	G	intergenic	CSMD1,LOC100287015	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23552140	-	ESAD-UK|1|301|0.00332	-	-	-,-	Schizophrenia, association with |Hyperinsulinism|Autism|Attention deficit hyperactivity disorder ,-	COSMIC,ICGC,
chr8	114636797	114636797	C	T	intergenic	CSMD3,TRPS1	unknown	SNV	-	-	-	-	rs763710842	-	-	-	-	COSN23442198	-	EOPC-DE|1|202|0.00495	-	-	-,integument phenotype	Schizophrenia  |Colorectal cancer ,Tricho-rhino-phalangeal syndrome with supernumerary teeth|Tricho-rhino-phalangeal syndrome III|Tricho-rhino-phalangeal syndrome I|Tricho-rhino-phalangeal syndrome|Infantile scoliosis & developmental delay|Femoral neck width, association with|Ambras syndrome	COSMIC,ICGC,
chr13	20142162	20142162	G	A	intergenic	TPTE2,MPHOSPH8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Autism	ICGC,
chr1	232039051	232039051	T	G	ncRNA_intronic	TSNAX-DISC1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr2	230895395	230895395	T	G	intergenic	FBXO36,SLC16A14	unknown	SNV	-	-	-	0.3093	rs11897369	-	0.27516	-	0.246	-	-	ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488	-	-	-,-	-,-	ICGC,
chr5	4789451	4789451	T	G	intergenic	LOC101929153,LINC01020	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr7	158900503	158900503	G	A	intronic	VIPR2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	reproductive system phenotype	Schizophrenia, increased risk |Agenesis of corpus callosum 	ICGC,
chr6	55610706	55610706	A	G	intergenic	HMGCLL1,BMP5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,Microtia |Osteoarthritis, susceptibility, association with	ICGC,
chr20	13473465	13473465	T	C	intronic	TASP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging	-	ICGC,
chr2	84708576	84708577	TA	-	intergenic	SUCLG1,DNAH6	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	Succinyl-coenzyme A synthetase deficiency|Neonatal lactic acidosis with methylmalonic aciduria|Lactic acidosis with mitochondrial DNA depletion,-	ICGC,
chr2	228869858	228869858	T	C	intronic	SPHKAP	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr9	40763052	40763052	A	T	intergenic	FAM74A3,ZNF658	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9712355	-	OV-AU|1|93|0.01075	-	-	-,-	-,-	COSMIC,ICGC,
chr13	87373126	87373126	G	A	intergenic	SLITRK6,MIR4500HG	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	behavior/neurological phenotype,-	High myopia and sensorineural deafness,-	ICGC,
chr20	45350514	45350514	C	A	intronic	SLC2A10	unknown	SNV	-	-	-	0.2752	rs2425901	-	0.313498	-	0.312	-	-	ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488	-	-	hematopoietic system phenotype	Thoracic aortic aneurysms and dissections|Lower serum insulin level|Arterial tortuosity syndrome|Aortic aneurysm 	ICGC,
chr3	21672885	21672885	C	T	intronic	ZNF385D	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr13	68806406	68806406	G	T	intergenic	PCDH9,LINC00550	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23484408	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr6	3209154	3209154	A	T	intergenic	LOC100507194,TUBB2B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22448821	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,Polymicrogyria, diffuse|Polymicrogyria, asymmetrical|Polymicrogyria-like, perisylvian|Polymicrogyria-like, diffuse|Polymicrogyria with dysmorphic basal ganglia|Pachygyria, bilateral regional|Microcephaly, intellectual disability, spastic tetraparesis and scoliosis|Microcephaly, corpus callosum agenesis, schizencephaly, polymicrogyria, and vermis & right third nerve hypoplasia|Congenital fibrosis of the extraocular muscles with polymicrogyria|Agyria 	COSMIC,ICGC,
chr21	22628530	22628530	G	A	intronic	NCAM2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	taste/olfaction phenotype	-	ICGC,
chr6	159121881	159121881	C	T	intronic	SYTL3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-	Potential protein deficiency	ICGC,
chr16	35249813	35249813	C	T	intergenic	FLJ26245,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	118072452	118072452	C	T	intergenic	TRAM1L1,NDST3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,mortality/aging	-,-	ICGC,
chr13	62036405	62036405	G	A	intergenic	PCDH20,LINC00358	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,-	-,-	ICGC,
chr2	222807758	222807758	C	T	intergenic	EPHA4,PAX3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	reproductive system phenotype,integument phenotype	Amyotrophic lateral sclerosis, reduced disease severity,Waardenburg syndrome type I|Waardenburg syndrome III|Waardenburg syndrome I.|Waardenburg syndrome I|Waardenburg syndrome|Spina bifida  |Reduced transcription|Hearing loss, syndromic|Craniofacial-deafness-hand syndrome	ICGC,
chr14	43400825	43400825	C	A	intergenic	LRFN5,FSCB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Short stature|Developmental delay, seizures & learning problems ,Tourette syndrome 	ICGC,
chr10	111902550	111902550	A	G	intergenic	ADD3,MXI1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24288798	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	hematopoietic system phenotype,mortality/aging	Cerebral palsy  ,-	COSMIC,COSMIC,ICGC,
chr2	135032416	135032416	C	T	intronic	MGAT5	unknown	SNV	-	-	-	3.23e-05	rs545308813	-	0.000199681	-	-	COSN6210108	-	LIRI-JP|1|258|0.00388	-	-	immune system phenotype	-	COSMIC,ICGC,
chr2	138998595	138998595	C	G	intergenic	HNMT,SPOPL	unknown	SNV	-	-	-	0.4337	rs28687011	-	0.354233	-	0.384	-	-	LAML-KR|1|205|0.00488	-	-	-,-	Urticaria, chronic, aspirin intolerant, reduced risk, association with|Parkinson disease, association with|Non-atopic dermatitis, association with|Lower HNMT level, association with|Essential tremor, association with|Atopic dermatitis, reduced risk|Atopic dermatitis, association with|Asthma, association with,-	ICGC,
chr9	35225918	35225918	C	T	intronic	UNC13B	unknown	SNV	-	-	-	3.235e-05	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Autism spectrum disorder	ICGC,
chr1	27942661	27942661	G	A	intronic	FGR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	hematopoietic system phenotype	-	ICGC,
chr4	153556792	153556792	C	T	intronic	TMEM154	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr2	100131965	100131965	G	-	intergenic	REV1,AFF3	unknown	deletion	-	-	-	3.23e-05	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	mortality/aging,skeleton phenotype	-,Developmental delay  |Mesomelic dysplasia	ICGC,
chr20	53716360	53716360	G	C	intergenic	DOK5,LINC01441	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	ICGC,
chr20	14348026	14348026	C	T	intronic	MACROD2	unknown	SNV	-	-	-	0.2677	rs204637	-	0.292332	-	0.268	-	-	ESAD-UK|1|301|0.00332	-	-	-	Kabuki syndrome|Attention deficit hyperactivity disorder 	ICGC,
chr8	80787182	80787182	G	C	intergenic	LOC101927040,MRPS28	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21603708	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr7	70249673	70249673	G	C	intronic	AUTS2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23159279	-	MALY-DE|1|241|0.00415	-	-	-	Speech & language disorder, tonic-clonic movements & pes planus|Myoclonic epilepsy, juvenile |Mental retardation|Intellectual disability, syndromic  |Epilepsy, nonlesional |Developmental delay, intellectual disability, short stature, ptosis & dysmorphism|Developmental delay  |Autism spectrum disorder  |Autism	COSMIC,ICGC,
chr7	73932488	73932488	C	G	exonic	GTF2IRD1	synonymous	SNV	-	-	0.0009	0.0031	rs112098981	0.0017	0.00299521	0.0032	-	COSM4933488	-	LIHC-US|1|189|0.00529	-	-	integument phenotype	Autism |Williams-Beuren syndrome features	COSMIC,ICGC,
chrX	107033060	107033060	C	T	intergenic	TSC22D3,MID2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	reproductive system phenotype,-	-,Intellectual disability, X-linked	ICGC,
chr13	91026508	91026508	T	C	intergenic	MIR622,LINC01049	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23869905	-	ORCA-IN|1|178|0.00562	-	-	-,-	-,-	COSMIC,ICGC,
chr15	71240231	71240231	C	T	intronic	LRRC49	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr8	69293081	69293081	C	T	intronic	C8orf34	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr2	187649288	187649288	C	T	intergenic	FAM171B,ZSWIM2	unknown	SNV	-	-	-	3.283e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chrX	78211779	78211779	G	A	intronic	P2RY10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr2	126029866	126029866	-	TATT	intergenic	CNTNAP5,GYPC	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|2|67|0.02985	-	-	-,-	Autism,Glycophorin C variant|Gerbich-negative blood group|Elliptocytosis|Duch blood group	ICGC,
chr12	7531609	7531609	C	A	exonic	CD163L1	nonsynonymous	SNV	0.017	1.0	-	-	-	-	-	-	-	COSM3782765	PRAD|1|499|0.00200	PRAD-US|1|256|0.00391	-	-	-	Schizophrenia	COSMIC,TCGA,ICGC,
chr13	43462075	43462075	G	A	UTR3	EPSTI1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	Potential protein deficiency	ICGC,
chr13	70396950	70396950	A	G	intronic	KLHL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	behavior/neurological phenotype	Breast cancer, increased risk  	ICGC,
chr2	218910667	218910667	A	G	intergenic	TNS1,CXCR2P1	unknown	SNV	-	-	-	3.234e-05	-	-	-	-	-	COSN22469784	-	BRCA-EU|1|569|0.00176	-	-	reproductive system phenotype,-	-,-	COSMIC,ICGC,
chr8	104630400	104630400	C	T	intronic	RIMS2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	-	ICGC,
chr6	164634718	164634718	C	T	intergenic	QKI,C6orf118	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging,-	6q terminal deletion syndrome,-	ICGC,
chr2	145739220	145739220	-	TAGAACAGAA	ncRNA_intronic	TEX41	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|3|67|0.04478	-	-	-	-	ICGC,
chr5	168290034	168290034	G	A	intronic	SLIT3	unknown	SNV	-	-	-	3.233e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Schizophrenia  |Major depressive disorder |Autism spectrum disorder	ICGC,
chr1	219452031	219452031	-	CACAAC	intergenic	LYPLAL1,RNU5F-1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	Cirrhosis, nonalcoholic steatohepatitis-related,-	ICGC,
chr1	230837437	230837437	G	A	downstream	AGT	unknown	SNV	-	-	-	0.0813	rs10864770	-	0.132188	-	0.087	-	-	LAML-KR|1|205|0.00488	-	-	mortality/aging	Preeclampsia/eclampsia, increased risk|Preeclampsia|Pre-eclampsia, association with|Power sports performance, association with|Potential protein deficiency|Posttransplant anemia, association with|Reduced angiotensinogen levels|Reduced pulse pressure, association with|Reduced risk of diabetic nephropathy, association with|Renal complications, association with|Renal tubular dysgenesis|Sick sinus syndrome, reduced risk, association with|Sporadic hypertrophic cardiomyopathy, association with|Steatohepatitis, non-alcoholic, association with|Plasma AGT levels|Multiple sclerosis, association with|Breast cancer, association with|Cardiomyopathy, hypertrophic, modifier of|Coronary artery calcium levels, association with|Coronary artery disease, association with|Diastolic heart failure, increased risk, association with|Glomerular filtration rate, association with|Henoch-Schonlein purpura, susceptibility to, association with|Hypertension|Mountian sickness, association with|Mortality in heart failure, association with|Low birth weight, association with|Ischemic stroke, association with|Increased angiotensinogen levels, association with |Hypertension, association with	ICGC,
chr20	24629794	24629794	G	A	intronic	SYNDIG1	unknown	SNV	-	-	-	0.1947	rs11087473	-	0.208866	-	0.203	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr17	19651321	19651321	G	C	intronic	ALDH3A1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21513765	-	BRCA-EU|1|569|0.00176	-	-	normal phenotype	-	COSMIC,ICGC,
chr2	206781797	206781797	G	A	intergenic	NRP2,INO80D	unknown	SNV	-	-	-	3.245e-05	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	integument phenotype,-	Osteoarthritis, early-onset |Autism, association with ,-	ICGC,
chr5	97163065	97163065	A	T	intergenic	LINC01340,RGMB	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9961104	-	RECA-EU|1|422|0.00237	-	-	-,mortality/aging	-,-	COSMIC,ICGC,
chr2	202222661	202222661	A	T	upstream	ALS2CR12	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-	-	ICGC,
chr5	81222935	81222935	G	A	intergenic	SSBP2,ATG10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	-,Breast cancer, reduced risk, association with	ICGC,
chr2	199016513	199016513	G	A	intergenic	PLCL1,LOC101927619	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	-,-	ICGC,
chr7	144658438	144658438	G	A	intergenic	TPK1,CNTNAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	Thiamine pyrophosphokinase deficiency|Leigh-like disease|Colorectal cancer, increased risk, association with |Autism,Gilles de la Tourette syndrome|Intellectual disability  |Learning disability & speech problems|Mental retardation |Mental retardation, Pitt-Hopkins-like|Multiple congenital anomalies  |Seizures, neonatal |Speech delay  |Stuttering |Epileptic encephalopathy  |Epilepsy and schizophrenia|Autism|Autism spectrum disorder |Autism spectrum disorder, modifier of|Childhood apraxia of speech|Cortical dysplasia-focal epilepsy syndrome|Developmental and/or speech and/or behavioural problems|Developmental delay  |Developmental delay & dysmorphic features|Dyslexia 	ICGC,
chr7	99123719	99123719	C	T	exonic	ZKSCAN5	synonymous	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-	Autism	ICGC,
chr4	66001099	66001099	C	G	intergenic	LOC401134,EPHA5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16526879	-	PACA-CA|1|268|0.00373	-	-	-,nervous system phenotype	-,Mental retardation|Dravet syndrome  |Attention deficit hyperactivity disorder & learning disabilities|Alzheimer disease  	COSMIC,ICGC,
chr2	86697506	86697506	T	G	exonic	KDM3A	nonsynonymous	SNV	0.004	0.941	-	-	-	-	-	-	-	COSM4096126	STAD|1|395|0.00253,STES|1|395|0.00253	STAD-US|1|289|0.00346	-	-	reproductive system phenotype	-	COSMIC,COSMIC,TCGA,ICGC,
chr10	90975698	90975698	G	T	exonic	LIPA	nonsynonymous	SNV	0.007	0.888	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	integument phenotype	Wolman syndrome / cholesterol ester storage disease|Wolman syndrome|Hypercholesterolaemia|Coronary artery disease, increased risk, association with|Cholesterol ester storage disease	ICGC,
chr6	41674885	41674885	C	A	intronic	TFEB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	integument phenotype	-	ICGC,
chrX	129641596	129641596	A	G	intergenic	FAM45B,ENOX2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,normal phenotype	-,-	ICGC,
chr20	35739501	35739501	C	T	intronic	MROH8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chrX	134292494	134292494	G	A	intronic	CT55	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr7	126159196	126159196	G	A	intronic	GRM8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	behavior/neurological phenotype	Attention deficit hyperactivity disorder|Autism spectrum disorder  	ICGC,
chr2	134832330	134832330	C	G	intergenic	NCKAP5,MIR3679	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Epilepsy  |Cervical artery dissection|Autism,-	ICGC,
chr13	106036866	106036866	A	-	intergenic	NONE,DAOA-AS1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	ICGC,
chr14	90599740	90599740	G	A	intronic	KCNK13	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr5	39342173	39342173	G	T	intronic	C9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	Macular degeneration, age related, increased risk|Haemolytic uraemic syndrome, atypical.|Complement C9 deficiency|Age-related macular degeneration, neovascular, reduced risk	ICGC,
chr2	121762093	121762093	C	T	intergenic	GLI2,TFCP2L1	unknown	SNV	-	-	-	0.3184	rs735370	-	0.285144	-	0.341	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,mortality/aging	Hypopituitarism  |Hypopituitarism & ectopic posterior pituitary lobe|Hypopituitarism and/or post-axial polydactyly|Multiple pituitary hormone deficiency|Reduced transcriptional activity|Schizophrenia|Holoprosencephaly, lobar|Holoprosencephaly-like phenotype|Cleft lip |Craniofacial anomalies |Holoprosencephaly |Holoprosencephaly spectrum phenotype|Holoprosencephaly with anophthalmia, branchial arch anomalies & CNS anomalies|Holoprosencephaly with heminasal aplasia & orbital anomalies,-	ICGC,
chr9	129702735	129702735	-	TT	intronic	RALGPS1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|2|67|0.02985	-	-	-	-	ICGC,
chr7	135395497	135395497	G	A	intronic	SLC13A4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	RECA-EU|1|422|0.00237	-	-	-	-	ICGC,
chr14	61656324	61656324	C	T	intergenic	SLC38A6,TMEM30B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25744905	-	EOPC-DE|1|202|0.00495	-	-	-,-	-,-	COSMIC,ICGC,
chr12	114195044	114195044	G	A	ncRNA_intronic	LINC01234	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-	-	ICGC,
chr10	105635797	105635797	T	C	intergenic	SH3PXD2A,OBFC1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BOCA-UK|1|130|0.00769	-	-	-,-	-,-	ICGC,
chr18	45125326	45125326	C	T	intergenic	SKOR2,SMAD2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,integument phenotype	-,Congenital heart defects |Congenital heart disease 	ICGC,
chr17	42095827	42095827	T	G	intergenic	TMEM101,LSM12	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	ICGC,
chr16	995583	995583	G	T	intronic	LMF1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6414736	-	LINC-JP|1|394|0.00254,MELA-AU|1|183|0.00546	-	-	integument phenotype	Hypercholesterolaemia ?|Hypertriglyceridaemia |Hypertriglyceridemia & lipase deficiency	COSMIC,ICGC,
chr4	162007463	162007463	A	G	intergenic	RAPGEF2,FSTL5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17825977	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,-	-,Schizophrenia  |Rolandic epilepsy 	COSMIC,ICGC,
chr4	20527022	20527025	TTAC	-	intronic	SLIT2	unknown	deletion	-	-	-	-	-	-	-	-	-	COSN2017756	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging	Schizophrenia  	COSMIC,ICGC,
chr3	50509004	50509004	C	T	intronic	CACNA2D2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	mortality/aging	Epileptic encephalopathy, early infantile|Schizophrenia  	ICGC,
chr3	61785419	61785419	C	T	intronic	PTPRG	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	integument phenotype	Schizophrenia	ICGC,
chr5	116858486	116858486	T	C	ncRNA_intronic	LINC00992	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2062740	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr5	42769356	42769356	A	T	intronic	CCDC152	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr18	35583716	35583716	G	A	intergenic	MIR4318,LINC00669	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr7	54043793	54043793	A	C	intergenic	LINC01446,HPVC1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20548476	-	COCA-CN|1|321|0.00312,ESAD-UK|2|301|0.00664	-	-	-,-	-,-	COSMIC,ICGC,
chr15	34130943	34130943	G	C	exonic	RYR3	nonsynonymous	SNV	0.656	0.011	-	-	-	-	-	-	-	COSM5811729	-	LICA-CN|1|402|0.00249	-	-	behavior/neurological phenotype	Schizophrenia|Hyperinsulinism|Breast cancer, increased risk, association with  	COSMIC,ICGC,
chr8	144368346	144368346	G	A	intergenic	LOC100507316,ZNF696	unknown	SNV	-	-	-	3.234e-05	-	-	-	-	-	COSN27753347	-	NKTL-SG|1|50|0.02000	-	-	-,-	-,-	COSMIC,ICGC,
chr9	78170246	78170246	C	T	ncRNA_intronic	MIR548H3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr7	91243106	91243106	C	T	intergenic	FZD1,MTERF1	unknown	SNV	-	-	-	0.5895	rs11972440	-	0.496805	-	0.174	COSN20546669	-	COCA-CN|1|321|0.00312	-	-	integument phenotype,-	Bone mineral density, association with  |Altered transcription factor binding,-	COSMIC,ICGC,
chr21	36373468	36373468	A	T	intronic	RUNX1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	integument phenotype	Platelet disorder, familial|Platelet disorder, familial & myeloid leukaemia|Platelet disorder, familial with associated myeloid malignancy|Rheumatoid arthritis, susceptibility, association|Thrombocytopaenia |Thrombocytopaenia and acute myeloid leukaemia|Thrombocytopaenia, association with|Thrombocytopaenia, non-syndromic with myelodysplasia|Platelet dense granule secretion defect, excessive bleeding|Myelodysplastic/myeloproliferative disease|Mental retardation, syndromic, with thrombocytopaenia|Acute myeloid leukaemia |Acute myeloid leukaemia, myelodysplastic syndrome-related|Delta-storage-pool platelet disease|Developmental delay, congenital anomalies & thrombocytopenia|Growth retardation & thrombocytopaenia|Leukaemia, chronic myelomonocytic|Lymphoblastic leukaemia, T-cell acute|Mental retardation, short stature & thrombocytopaenia	ICGC,
chr10	60997437	60997437	G	A	intronic	PHYHIPL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	-	ICGC,
chr19	30152634	30152634	G	C	intergenic	POP4,PLEKHF1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9353433	-	OV-AU|1|93|0.01075	-	-	-,-	-,-	COSMIC,ICGC,
chrX	94379379	94379379	C	T	intergenic	FAM133A,LOC643486	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr6	123285382	123285382	G	A	intergenic	SMPDL3A,CLVS2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr18	72999126	72999126	C	T	exonic	TSHZ1	synonymous	SNV	-	-	4.093e-06	3.231e-05	rs753557748	8.403e-06	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	mortality/aging	Aural atresia, congenital	ICGC,
chr3	95668904	95668904	C	T	intergenic	MTHFD2P1,MIR8060	unknown	SNV	-	-	-	3.232e-05	rs539829383	-	-	-	-	COSN26201776	-	EOPC-DE|1|202|0.00495,PRAD-UK|1|140|0.00714	-	-	-,-	-,-	COSMIC,COSMIC,ICGC,
chr8	125868553	125868553	G	A	intergenic	MTSS1,LINC00964	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	-,-	ICGC,
chr3	9394138	9394138	A	G	intergenic	SRGAP3,THUMPD3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	behavior/neurological phenotype,-	SLIT-ROBO gap 3 deficiency|Schizophrenia, childhood onset with psychotic illness|Schizophrenia, childhood onset |Mental retardation|Intellectual disability  |Autism,-	ICGC,
chr8	64319210	64319210	C	G	intergenic	YTHDF3,LINC01289	unknown	SNV	-	-	-	0.3604	rs12545091	-	0.329872	-	0.348	-	-	LAML-KR|1|205|0.00488	-	-	-,-	-,-	ICGC,
chr10	71699054	71699054	T	G	intronic	COL13A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	other phenotype	-	ICGC,
chr9	76892815	76892815	G	C	ncRNA_intronic	MIR6130	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-	-	ICGC,
chr3	109386067	109386067	G	A	intergenic	LINC01205,PVRL3-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr11	62889728	62889728	C	T	intronic	SLC22A24	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Potential protein deficiency	ICGC,
chr3	146352140	146352140	G	A	intergenic	PLSCR5,ZIC4	unknown	SNV	-	-	-	0.1550	rs17368986	-	0.103634	-	0.072	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,-	ICGC,
chrX	99532075	99532075	G	A	intergenic	XRCC6P5,PCDH19	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21342791	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,Tonic seizures|Seizures|Generalized tonic-clonic seizures|Focal seizures with secondary generalization|Focal epilepsy|Epileptic encephalopathy|Epilepsy, early-onset|Epilepsy and mental retardation limited to females|Epilepsy & mental retardation|Dravet syndrome  |Asperger syndrome	COSMIC,ICGC,
chrX	142180174	142180174	G	T	intergenic	SPANXN4,SPANXN3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr1	2421346	2421346	G	A	intronic	PLCH2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN18302229	-	-	-	-	normal phenotype	-	COSMIC,
chr19	33828810	33828810	C	T	intergenic	CEBPA-AS1,CEBPG	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,-	ICGC,
chr15	41031881	41031881	G	A	intronic	RMDN3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	normal phenotype	-	ICGC,
chr8	39495019	39495019	T	G	intronic	ADAM18	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5112004	-	LINC-JP|1|394|0.00254	-	-	behavior/neurological phenotype	-	COSMIC,COSMIC,ICGC,
chr2	29154741	29154741	T	C	intronic	WDR43	unknown	SNV	-	-	-	0.0002	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr6	73193718	73193718	T	A	intergenic	RIMS1,KCNQ5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,-	Autism|Cone-rod dystrophy|Retinitis pigmentosa, autosomal dominant,Schizophrenia	ICGC,
chr4	38247277	38247277	G	A	intergenic	TBC1D1,LINC01258	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	normal phenotype,-	Obesity, association with,-	ICGC,
chr8	70433790	70433790	A	C	intronic	SULF1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Hyperinsulinism|Mesomelia-synostoses syndrome	ICGC,
chr10	84945796	84945796	G	A	intergenic	NRG3,GHITM	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype,-	Schizophrenia, association with |Increased ventrolateral PFC activation|Hirschsprung disease  ,-	ICGC,
chr5	2827339	2827339	A	C	intergenic	C5orf38,LINC01377	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17780096	-	ESAD-UK|1|301|0.00332,MALY-DE|1|241|0.00415	-	-	-,-	-,-	COSMIC,COSMIC,ICGC,
chr2	176550395	176550395	C	T	intergenic	ATP5G3,KIAA1715	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,mortality/aging	-,-	ICGC,
chr8	89157134	89157134	T	G	intronic	MMP16	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20423719	-	COCA-CN|1|321|0.00312	-	-	mortality/aging	-	COSMIC,ICGC,
chr19	40949861	40949861	T	A	intronic	SERTAD3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	SARC|1|247|0.00405	-	-	-	-	-	TCGA,
chr15	34416570	34416570	G	T	intergenic	PGBD4,KATNBL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Autism spectrum disorder,-	ICGC,
chrX	144416044	144416044	T	C	intergenic	SPANXN1,SLITRK2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	145149663	145149663	A	T	intronic	ZEB2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-AU|1|391|0.00256	-	-	mortality/aging	Mowat-Wilson syndrome with cholestasis and biliary atresia|Mowat-Wilson syndrome with asplenia|Mowat-Wilson syndrome|Hirschsprung disease, modifier of|Hirschsprung disease-structural eye anomalies|Hirschsprung disease-mental retardation syndrome|Brain malformations 	ICGC,
chr3	158607002	158607002	G	A	intergenic	MFSD1,IQCJ	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|2|183|0.01093	-	-	-,-	-,-	ICGC,
chr6	38750864	38750864	G	A	exonic	DNAH8	unknown	SNV	0.022	1.0	2.845e-05	-	rs760698318	1.649e-05	-	-	-	COSM4600760	-	-	-	-	-	Primary ciliary dyskinesia  	COSMIC,COSMIC,COSMIC,
chr18	19112936	19112936	C	T	intronic	ESCO1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	skeleton phenotype	-	ICGC,
chr2	167486518	167486518	T	C	intergenic	SCN7A,XIRP2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6152897	-	LIRI-JP|1|258|0.00388	-	-	taste/olfaction phenotype,integument phenotype	-,Schizophrenia	COSMIC,ICGC,
chr7	113067942	113067942	T	C	intergenic	LINC00998,PPP1R3A	unknown	SNV	-	-	-	6.465e-05	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,growth/size phenotype	-,Insulin resistance, association with|Insulin resistance|Glycemia variation, association with	ICGC,
chr5	13694719	13694719	C	T	intronic	DNAH5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	mortality/aging	Asthenozoospermia |Autism |Chronic rhinosinusitis and primary ciliary dyskinesia|Potential protein deficiency|Primary ciliary dyskinesia	ICGC,
chr5	111750345	111750345	G	C	intronic	EPB41L4A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr4	72434894	72434894	C	T	UTR3	SLC4A4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	integument phenotype	Reduced transport activity|Proximal renal tubular acidosis|Migraine 	ICGC,
chr15	43579329	43579329	G	A	intronic	TGM7	unknown	SNV	-	-	-	6.463e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chrX	91620905	91620905	C	T	intronic	PCDH11X	unknown	SNV	-	-	-	-	rs759780664	-	0.000264901	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	Absent speech, intellectual disability & behavioural problems|Attention deficit hyperactivity disorder & obsessive compulsive disorder|Developmental dyslexia |Language delay, nonsyndromic 	ICGC,
chr9	9247952	9247952	T	C	intronic	PTPRD	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Restless legs syndrome, association with|Ewing sarcoma	ICGC,
chr15	75222814	75222814	-	C	intronic	COX5A	unknown	insertion	-	-	-	0.0009	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr10	111892598	111892598	T	C	intronic	ADD3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	hematopoietic system phenotype	Cerebral palsy  	ICGC,
chr9	31973188	31973188	A	T	intergenic	LINC01242,ACO1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24977290	-	LICA-FR|1|252|0.00397	-	-	-,mortality/aging	-,Schizophrenia	COSMIC,ICGC,
chr11	37458647	37458647	T	-	intergenic	C11orf74,LOC103312105	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr13	28611413	28611413	A	G	exonic	FLT3	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM3968590	GBMLGG|1|820|0.00122,LGG|1|530|0.00189	LGG-US|1|283|0.00353	-	-	mortality/aging	Myeloid leukaemia, increased risk, association with	COSMIC,TCGA,ICGC,
chr4	70736195	70736195	A	T	intergenic	SULT1E1,CSN1S1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	hematopoietic system phenotype,integument phenotype	Lung cancer, susceptibility to, association with,-	ICGC,
chr9	81533698	81533698	G	A	intergenic	PSAT1,LOC101927450	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	mortality/aging,-	Schizophrenia |Phosphoserine aminotransferase deficiency,-	ICGC,
chr21	25966720	25966720	G	A	intergenic	LOC101927869,LOC339622	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chrX	50219239	50219239	C	A	intergenic	DGKK,SHROOM4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21789275	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,Developmental delay, choanal atresia, ventricle septum defect & camptodactyly|Mental retardation, X-linked|Potential protein deficiency	COSMIC,ICGC,
chr1	180226356	180226356	C	T	intronic	LHX4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	mortality/aging	Short stature|Pituitary hormone deficiency, severe combined|Pituitary hormone deficiency, combined|Pituitary hormone deficiency |Hypopituitarism	ICGC,
chrX	66286262	66286262	G	A	intergenic	EDA2R,AR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	normal phenotype,integument phenotype	Hypohidrotic ectodermal dysplasia|Mental retardation, X-linked ,Infertility, idiopathic|Infertility, male|Premature ovarian failure |Primary amenorrhea|Prostate cancer |Prostate cancer, increased risk, association|Pseudohermaphroditism, male|Reifenstein syndrome|Spino-bulbar muscular atrophy (Kennedy disease)|Testicular dysgenesis syndrome|Urothelial carcinoma, association with|Uterine leiomyomas, association with|Very late onset of muscle weakness|Visceral adiposity and hypertension|Hypospadias.|Hypospadias, increased risk|Hypospadias|46,XY complete androgen insensitivity|Alzheimer disease, association with|Androgen insensitivity syndrome|Androgen insensitivity syndrome & Leydig cell hyperplasia|Androgen insensitivity syndrome, partial|Androgen insensitivity syndrome, partial.|Androgenetic alopecia, reduced risk, association with|Autism spectrum disorder, in females, association with|Autism spectrum disorder, protection against, in males, association with|Azoospermia, hypergonadotropic |Breast cancer, male|Defective spermatogenesis|Disorder of sex development  |Endometriosis, association with   	ICGC,
chr2	83321962	83321962	A	-	intergenic	LOC1720,FUNDC2P2	unknown	deletion	-	-	-	0.0449	-	-	-	-	-	-	-	BTCA-SG|3|71|0.04225	-	-	-,-	-,-	ICGC,
chr6	116344490	116344490	G	A	intronic	FRK	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	homeostasis/metabolism phenotype	Potential protein deficiency	ICGC,
chr18	65050927	65050927	T	C	intergenic	MIR5011,DSEL	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8551169	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	COSMIC,ICGC,
chrX	125318546	125318546	G	A	intergenic	DCAF12L2,DCAF12L1	unknown	SNV	-	-	-	4.63e-05	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr7	109894320	109894320	C	T	intergenic	EIF3IP1,IMMP2L	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,reproductive system phenotype	-,Gilles de la Tourette syndrome|Autism	ICGC,
chr8	56283131	56283131	A	C	intronic	XKR4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5236814	-	ESAD-UK|1|301|0.00332	-	-	-	Glaucoma, primary congenital	COSMIC,COSMIC,ICGC,
chr2	154786612	154786612	C	T	intronic	GALNT13	unknown	SNV	-	-	-	0.0789	rs73009836	-	0.105232	-	0.130	COSN17035302	-	-	-	-	normal phenotype	-	COSMIC,
chr9	140130839	140130839	C	T	exonic	SLC34A3	nonsynonymous	SNV	0.025	1.0	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	skeleton phenotype	Hypercalciuria, idiopathic|Hereditary hypophosphataemic rickets with hypercalciuria, modifier of|Hereditary hypophosphataemic rickets with hypercalciuria	ICGC,
chr14	37476827	37476827	-	GAA	intronic	SLC25A21	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	hematopoietic system phenotype	Synpolydactyly	ICGC,
chr4	14408698	14408698	G	C	intergenic	LINC01085,CPEB2-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17829520	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr2	1159400	1159400	G	A	intronic	SNTG2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Autism spectrum disorder  |Schizophrenia  	ICGC,
chr4	59374996	59374996	A	G	intergenic	IGFBP7-AS1,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr8	138276825	138276825	-	T	intergenic	KHDRBS3,FAM135B	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	NKTL-SG|1|50|0.02000	-	-	-,-	-,-	ICGC,
chr4	137297657	137297657	G	A	intergenic	LINC00613,PCDH18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Intellectual disability  	ICGC,
chr7	9382790	9382790	T	C	intergenic	NXPH1,PER4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Breast cancer, increased risk  ,-	ICGC,
chr5	154494264	154494264	G	A	intergenic	KIF4B,SGCD	unknown	SNV	-	-	-	-	rs368204140	-	-	-	-	COSN20842224	-	BRCA-EU|1|569|0.00176	-	-	-,mortality/aging	-,Muscular dystrophy, limb girdle 2F|Muscular dystrophy, limb girdle 2 |Muscular dystrophy, limb girdle|Cardiomyopathy, dilated|Anorectal malformation	COSMIC,ICGC,
chr1	57657394	57657394	G	A	intronic	DAB1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Syndromic cleft lip & palate	ICGC,
chr1	230281618	230281618	G	A	intronic	GALNT2	unknown	SNV	-	-	-	0.8364	rs4846838	-	0.847045	-	0.768	-	-	ESAD-UK|2|301|0.00664	-	-	-	Higher plasma HDL cholesterol  |Improved plasma triglyceride clearance	ICGC,
chr3	177675313	177675313	G	A	intergenic	LOC102724550,LINC01014	unknown	SNV	-	-	-	0.0001	rs773289487	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr2	235625796	235625813	GAATCTTCACATGAAAAG	-	intergenic	ARL4C,SH3BP4	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	OV-AU|1|93|0.01075	-	-	-,-	-,Peripheral neuropathy  	ICGC,
chr1	109017052	109017052	C	T	intergenic	NBPF6,FAM102B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	ICGC,
chr13	111093351	111093351	G	A	intronic	COL4A2	unknown	SNV	-	-	-	6.457e-05	-	-	-	-	0.007	-	-	GACA-CN|1|123|0.00813	-	-	mortality/aging	Porencephaly & small-vessel disease|Porencephaly|Macular degeneration, age related, protection against |Intracerebral haemorrhage & leukoencephalopathy|Haemorrhagic stroke	ICGC,
chr21	38257288	38257288	G	A	intronic	HLCS	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-	Reduced biotin affinity|Multiple carboxylase deficiency|Increased activity|Holocarboxylase synthetase deficiency.|Holocarboxylase synthetase deficiency	ICGC,
chr16	52235786	52235786	A	C	intergenic	LOC102467079,TOX3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,Tumour subtype, in BRCA1 mutation carriers, association with.|Breast cancer, association with	ICGC,
chr4	114654884	114654884	C	T	intronic	CAMK2D	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1980933	-	LIRI-JP|1|258|0.00388	-	-	cardiovascular system phenotype	Hyperinsulism	COSMIC,ICGC,
chr10	81697715	81697715	C	-	exonic	SFTPD	frameshift	deletion	-	-	-	-	-	-	-	-	-	COSM5027253	-	-	-	-	mortality/aging	Spontaneous preterm birth, increased risk|SP-D serum levels, association with|Severe RSV infection, association with|Lung cancer, susceptibility to, association with|Interstitial pneumonia / lung cancer, association with|Diabetes, type 2, association with|Crohn's disease, association with|Chronic obstructive pulmonary disease / emphysema, association with|Autism spectrum disorder	COSMIC,
chr9	79931188	79931188	T	C	exonic	VPS13A	synonymous	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-JP|1|585|0.00171	-	-	hematopoietic system phenotype	Schizophrenia|Chorea-acanthocytosis with upper motor neuron degeneration|Chorea-acanthocytosis with dilated cardiomyopathy & myopathy|Chorea-acanthocytosis	ICGC,
chr9	107858413	107858413	T	C	intergenic	ABCA1,SLC44A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Increased triglyceride levels|Increased total cholesterol|Increased serum TC levels & decreased serum HDL-C and ApoAI|Increased risk of ischemic heart disease|Increased risk of coronary artery disease, association with|Increased risk of CAD, association |Increased plasma LDLc levels, association with|Increased plasma HDL cholesterol|Increased HDL-C|Ischemic heart disease, increased risk|Low HDL cholesterol levels, association with|Tangier disease.|Tangier disease|Susceptibility to radiation dermatitis|Smith-Lemli-Opitz syndrome, modifier of|Scott syndrome|Reduced total cholesterol|Reduced risk of coronary artery disease, association with|Reduced plasma HDL cholesterol|Reduced HDL cholesterol|Increased fenofibrate cholesterol efflux, association with|Improved long-term clinical outcome in coronary artery disease, association with.|Impaired insulin secretion|Coronary artery disease, protection against, association with|Autism spectrum disorder|Atrial fibrillation, protection, association with|Atherothrombotic cerebral infarction, protection, association|Atherosclerosis, association with|APOE e4 dependent alzheimer disease risk|Alzheimer's disease, association with |Altered HDL cholesterol levels|Altered HDL cholesterol|Coronary artery disease, reduced risk|Coronary heart disease, association with|Hypercholesterolaemia / hypertriglyceridaemia ?|Hypercholesterolaemia|HDL-C and TG levels, association with|HDL deficiency, dietary treatment response, association with|HDL deficiency|Coronary heart disease, protection against, association with.|Coronary heart disease, premature, association with|Coronary heart disease, increased risk, association with |Coronary heart disease, decreased risk, association with,-	ICGC,
chr1	239799060	239799060	G	A	intronic	CHRM3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	vision/eye phenotype	Autistic disorder|Bladder malformation|Diabetes, type 2, increased risk, association |Tetralogy of Fallot	ICGC,
chr6	19049776	19049776	A	T	intergenic	MIR548A1,LOC101928519	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25172459	-	ESAD-UK|1|301|0.00332,MALY-DE|1|241|0.00415	-	-	-,-	-,-	COSMIC,ICGC,
chr18	37922926	37922926	G	C	intergenic	LOC101927900,KC6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	-,-	ICGC,
chr9	4655158	4655158	G	A	intronic	SPATA6L	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr16	7537683	7537683	-	CA	intronic	RBFOX1	unknown	insertion	-	-	-	0	-	-	-	-	-	-	-	OV-AU|1|93|0.01075	-	-	mortality/aging	Muscular and feet abnormalities|Mental retardation|Epilepsy, rolandic  |Epilepsy|Developmental delay, facial dysmorphism  |Developmental delay and transposition of the great arteries|Developmental delay and diplegia|Developmental delay and craniosynostosis|Developmental delay  |Cardiac defects|Cardiac abnormalities, micrognathia and scoliosis|Autism spectrum disorder|Autism|Attention deficit hyperactivity disorder 	ICGC,
chr7	92166572	92166572	T	-	UTR3	RBM48	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-	-	ICGC,
chr14	69631189	69631189	-	A	intergenic	DCAF5,EXD2	unknown	insertion	-	-	-	3.32e-05	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr4	53039162	53039162	C	T	intergenic	SPATA18,USP46	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,behavior/neurological phenotype	-,Autism 	ICGC,
chr11	111247872	111247872	G	A	intronic	POU2AF1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	mortality/aging	-	ICGC,
chr5	164810262	164810262	C	A	intergenic	LOC102546299,CTB-7E3.1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-,-	-,-	ICGC,
chr19	54842581	54842581	G	A	intergenic	LILRA5,LILRA4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	225205967	225205967	G	A	intergenic	SERPINE2,FAM124B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	reproductive system phenotype,-	-,-	ICGC,
chr18	40684439	40684439	C	T	intronic	RIT2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr13	56950645	56950645	T	C	intergenic	MIR5007,PRR20A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	5317155	5317155	G	A	intergenic	AJAP1,MIR4417	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr10	108922076	108922076	C	A	intronic	SORCS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5815576	-	ESAD-UK|1|301|0.00332	-	-	other phenotype	Autism 	COSMIC,ICGC,
chr5	40357240	40357240	C	T	intergenic	LINC00603,PTGER4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,integument phenotype	-,Crohn's disease, association with 	ICGC,
chr3	127187580	127187580	G	A	intergenic	LOC101927123,TPRA1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr3	95087720	95087720	C	T	intergenic	LINC00879,MTHFD2P1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr11	91280057	91280057	G	T	intergenic	DISC1FP1,FAT3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,vision/eye phenotype	-,Autism spectrum disorder	ICGC,
chr14	59516755	59516755	T	A	intergenic	LOC102723742,DAAM1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,mortality/aging	-,Congenital heart defect  	ICGC,
chr8	67273514	67273514	C	T	intergenic	LINC00967,RRS1-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr22	26406826	26406826	C	T	intronic	MYO18B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging	Colorectal cancer, increased risk, association with|Leukemia, risk, association with |Schizophrenia	ICGC,
chr1	105477858	105477858	-	G	intergenic	LOC100129138,NONE	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	-,-	-,-	ICGC,
chr20	10338044	10338044	G	A	intergenic	SNAP25,MKKS	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,mortality/aging	Attention deficit hyperactivity disorder,Phenotype modifier |Obesity, association with|McKusick-Kaufman syndrome|Bardet-Biedl syndrome	ICGC,
chr14	95748758	95748758	A	G	intronic	CLMN	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-	-	ICGC,
chr22	37287037	37287037	T	C	intergenic	NCF4,CSF2RB	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5455746	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging,hematopoietic system phenotype	Crohn's disease, ileal, association with|Crohn's disease, association with.|Crohn's disease, association with|Chronic granulomatous disease,Pulmonary alveolar proteinosis	COSMIC,ICGC,
chr11	75156219	75156219	C	A	intronic	GDPD5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	cellular phenotype	Schizophrenia	ICGC,
chr4	116705953	116705953	G	A	intergenic	NDST4,MIR1973	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	76078328	76078328	A	T	intergenic	ZNF717,ROBO2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,mortality/aging	Potential protein deficiency,Autism spectrum disorder  |Urinary tract anomalies|Vesicoureteral reflux	ICGC,
chr18	4448533	4448533	T	C	intronic	DLGAP1	unknown	SNV	-	-	-	0.1245	rs16946838	-	0.161542	-	0.174	-	-	ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488	-	-	-	Schizophrenia  	ICGC,
chr9	29796205	29796205	G	A	intergenic	LINGO2,LINC01242	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Autism spectrum disorder  |Developmental delay with absent speech,-	ICGC,
chr14	37170549	37170549	A	G	intronic	SLC25A21	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	hematopoietic system phenotype	Synpolydactyly	ICGC,
chr7	112342054	112342054	C	T	ncRNA_intronic	LOC101928012	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr1	94374607	94374607	G	A	exonic	GCLM	nonsynonymous	SNV	0.005	0.923	-	-	-	-	-	-	-	-	-	ORCA-IN|1|178|0.00562	-	-	mortality/aging	Myocardial infarction, association with	ICGC,
chr20	5089674	5089676	AAA	-	intronic	TMEM230	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	-	ICGC,
chr11	122106202	122106202	C	T	intergenic	MIR100HG,UBASH3B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr9	21275020	21275020	T	A	intergenic	IFNA14,IFNA22P	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2315737	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,COSMIC,ICGC,
chr17	52909736	52909736	C	T	intergenic	KIF2B,TOM1L1	unknown	SNV	-	-	-	-	rs556084341	-	0.000199681	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	117615067	117615067	C	A	intergenic	DPP10,DDX18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	Autism spectrum disorder,-	ICGC,
chr1	55749353	55749353	T	C	intergenic	MIR4422,PPAP2B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,mortality/aging	-,-	ICGC,
chr10	42814088	42814088	-	GCATT	intergenic	NONE,LOC441666	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr11	98605528	98605528	C	A	intergenic	MIR7976,CNTN5	unknown	SNV	-	-	-	0.0333	rs1108420	-	0.0662939	-	0.043	-	-	LAML-KR|1|205|0.00488	-	-	-,behavior/neurological phenotype	-,-	ICGC,
chr6	150791700	150791700	A	C	intergenic	IYD,PLEKHG1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26357438	-	PRAD-UK|1|140|0.00714	-	-	-,hematopoietic system phenotype	Hypothyroidism,-	COSMIC,ICGC,
chr3	182771663	182771663	-	A	intronic	MCCC1	unknown	insertion	-	-	-	0.1745	rs201406019	-	0.46845	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	Methylcrotonylglycinuria |Elevated 3-hydroxyisovalerylcarnitine / 3-methylcrotonylglycine levels|3-methylcrotonylglycinuria.|3-methylcrotonylglycinuria|3-methylcrotonyl-CoA carboxylase deficiency	ICGC,
chr16	19871856	19871856	G	T	exonic	GPRC5B	nonsynonymous	SNV	0.0	0.999	-	-	-	-	-	-	-	-	TGCT|1|155|0.00645	-	-	-	mortality/aging	-	TCGA,
chr21	16790338	16790338	C	T	intergenic	NRIP1,USP25	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	reproductive system phenotype,hematopoietic system phenotype	Lung cancer, susceptibility to, association with,-	ICGC,
chr1	78299391	78299391	A	G	intronic	FAM73A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr10	95537108	95537108	-	T	intronic	LGI1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	STAD|1|395|0.00253,STES|1|395|0.00253	-	-	-	integument phenotype	Partial epilepsy with auditory features|Hyperactive behavior in lateral temporal lobe epilepsy, association with.|Epilepsy, partial, with telephone-induced seizures|Epilepsy, partial, with auditory features|Epilepsy, lateral temporal lobe, with migraine-like episodes|Epilepsy, lateral temporal lobe, autosomal dominant|Epilepsy, focal idiopathic	TCGA,
chr5	16913681	16913681	G	A	intronic	MYO10	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7910863	-	PACA-AU|1|391|0.00256	-	-	-	-	COSMIC,ICGC,
chr12	53798547	53798547	G	A	intronic	SP1	unknown	SNV	-	-	-	0.0785	rs75261027	-	0.04373	-	0.007	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype	-	ICGC,
chr11	4728101	4728101	C	T	intergenic	OR51E2,OR51F1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	nervous system phenotype,-	-,Potential protein deficiency	ICGC,
chr6	96451193	96451193	C	T	intergenic	MANEA,FUT9	unknown	SNV	-	-	-	0.0016	-	-	-	-	-	COSN19104839	-	CLLE-ES|1|510|0.00196	-	-	-,normal phenotype	-,-	COSMIC,ICGC,
chr2	135273124	135273124	-	T	intronic	TMEM163	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	-	ICGC,
chr17	9067509	9067509	A	G	intronic	NTN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype	-	ICGC,
chr9	85720721	85720721	G	T	intergenic	RASEF,FRMD3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr1	193930779	193930781	TTG	-	intergenic	CDC73,NONE	unknown	deletion	-	-	-	0	-	-	-	-	-	-	-	PRAD-CA|2|308|0.00649	-	-	integument phenotype,-	Potential protein deficiency|Parathyroid carcinoma/adenoma|Parathyroid carcinoma.|Parathyroid carcinoma|Parathyroid cancer|Parathyroid adenoma.|Parathyroid adenoma |Hyperparathyroidism, primary.|Hyperparathyroidism, primary|Hyperparathyroidism, isolated|Hyperparathyroidism-jaw tumour syndrome.|Hyperparathyroidism-jaw tumour syndrome,-	ICGC,
chr11	17809838	17809838	A	C	exonic	SERGEF	nonsynonymous	SNV	0.051	1.0	-	-	-	-	-	-	-	COSM5739189	-	-	-	-	-	-	COSMIC,
chr2	125359769	125359769	A	C	intronic	CNTNAP5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|3|301|0.00997	-	-	-	Autism	ICGC,
chr22	45077486	45077486	-	A	intronic	PRR5	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	-	ICGC,
chr13	66526640	66526640	C	T	intergenic	NONE,PCDH9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr6	41932019	41932020	TG	-	intronic	CCND3	unknown	deletion	-	-	-	0.0635	rs34167767	-	0.0377396	-	0.036	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	-	ICGC,
chr8	27740759	27740759	G	A	intronic	SCARA5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr15	42168482	42168482	C	T	exonic	SPTBN5	nonsynonymous	SNV	0.079	0.543	5.01e-06	-	-	-	-	-	-	COSM4545710	-	-	-	-	-	Schizophrenia|Potential protein deficiency|Autism spectrum disorder	COSMIC,
chr7	92993721	92993721	-	CACA	intergenic	CCDC132,CALCR	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	-,mortality/aging	-,Lower lumbar bone mineral density, association	ICGC,
chr5	3897672	3897679	TACACACA	-	intergenic	IRX1,LOC101929153	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr3	102362470	102362470	G	A	intergenic	ZPLD1,MIR548A3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-,-	Cerebral cavernous malformations,-	ICGC,
chr14	27325960	27325960	G	A	intergenic	LOC101927062,LOC101927081	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr9	130513441	130513441	G	T	intronic	SH2D3C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	mortality/aging	-	ICGC,
chr14	97483090	97483090	C	T	intergenic	LINC00618,LOC101929241	unknown	SNV	-	-	-	6.459e-05	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr2	214553013	214553013	C	T	intronic	SPAG16	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	reproductive system phenotype	Instability of central apparatus proteins	ICGC,
chr1	68855192	68855192	A	G	intergenic	WLS,RPE65	unknown	SNV	-	-	-	0.1171	rs9436826	-	0.202077	-	-	-	-	LAML-KR|1|205|0.00488	-	-	integument phenotype,other phenotype	-,Retinitis pigmentosa|Retinitis pigmentosa / choroideremia|Retinitis pigmentosa, autosomal dominant ?|Retinitis pigmentosa, juvenile-onset|Retinitis pigmentosa?|RPE65 deficiency|Retinal dystrophy, severe, childhood onset|Retinal dystrophy, childhood onset|Retinal dystrophy, autosomal recessive|Retinal dystrophy |Leber congenital amaurosis.|Leber congenital amaurosis ?|Leber congenital amaurosis|Fundus albipunctatus|Cone-rod dystrophy, early-onset, severe	ICGC,
chr12	124044690	124044690	-	TTTATTTATTTT	intergenic	MIR3908,LOC101927415	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chrX	8649175	8649175	T	C	intronic	KAL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	Septo-optic dysplasia  |Kallmann syndrome, reversible|Kallmann syndrome and ichthyosis|Kallmann syndrome|Hypothalamic amenorrhea |Hypogonadotropic hypogonadism, idiopathic|Hypogonadotrophic hypogonadism, idiopathic|GnRH deficiency |Chondrodysplasia punctata|Autism spectrum disorder	ICGC,
chr12	13460550	13460550	G	A	intergenic	EMP1,C12orf36	unknown	SNV	-	-	-	-	rs557472470	-	0.000399361	-	-	-	-	SKCA-BR|2|100|0.02000	-	-	normal phenotype,-	-,-	ICGC,
chr9	21360037	21360037	A	C	intergenic	IFNA6,IFNA13	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	ICGC,
chr17	59944672	59944672	-	A	UTR3	INTS2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	mortality/aging	-	ICGC,
chr13	98199692	98199692	C	T	intergenic	RAP2A,IPO5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr8	74715216	74715216	G	A	intronic	UBE2W	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8100221	-	PACA-AU|1|391|0.00256	-	-	-	-	COSMIC,ICGC,
chr8	67819233	67819233	C	A	intronic	MCMDC2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9666437	-	OV-AU|1|93|0.01075	-	-	-	-	COSMIC,ICGC,
chr7	83781955	83781955	G	A	intronic	SEMA3A	unknown	SNV	-	-	-	0.1185	rs10253803	-	0.172524	-	-	COSN20506766	-	COCA-CN|1|321|0.00312	-	-	mortality/aging	Unexplained cardiac arrest, association with|Short stature & multiple congenital anomalies|Kallmann syndrome|Hirschsprung disease   |Crypt frequency in the iris, association with	COSMIC,ICGC,
chr17	6330273	6330273	C	T	exonic	AIPL1	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM5600995	-	-	-	-	vision/eye phenotype	Retinitis pigmentosa, autosomal recessive ?|Retinal degeneration, late-onset |Retinal degeneration, autosomal recessive|Leber congenital amaurosis IV|Leber congenital amaurosis|Cone-rod dystrophy	COSMIC,
chr6	86404101	86404101	C	T	intergenic	SNHG5,HTR1E	unknown	SNV	-	-	-	0.0001	rs145054038	-	0.000199681	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr15	39189349	39189349	G	A	intergenic	C15orf53,C15orf54	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr13	43822261	43822261	T	A	intronic	ENOX1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-	Myasthenia gravis, adult-onset autoimmune	ICGC,
chr22	44876452	44876452	A	G	intergenic	LOC101927526,LDOC1L	unknown	SNV	-	-	-	0.0195	rs7286616	-	0.0295527	-	0.007	COSN4785483	-	-	-	-	-,-	-,-	COSMIC,
chr15	38129670	38129670	C	T	intergenic	MEIS2,TMCO5A	unknown	SNV	-	-	-	0.2115	rs10152256	-	0.227636	-	0.275	-	-	ESAD-UK|1|301|0.00332,LAML-KR|2|205|0.00976	-	-	-,-	Cleft palate & cardiac septum ,-	ICGC,
chr13	104318906	104318906	C	T	intergenic	MIR548AS,DAOA-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	-,-	-,-	ICGC,
chr11	48252763	48252763	G	A	intergenic	OR4B1,OR4X2	unknown	SNV	-	-	-	0.0005	rs535132164	-	0.000199681	-	-	COSN5261746	-	LINC-JP|1|394|0.00254	-	-	-,-	-,Potential protein deficiency	COSMIC,ICGC,
chr6	15282063	15282063	T	G	intronic	JARID2	unknown	SNV	-	-	-	3.228e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Cognitive impairment, gait disturbance & characteristic facial appearance|Cognitive impairment, gait disturbance, characteristic facial appearance, intellectual disability & behavioural abnormalities|Schizophrenia	ICGC,
chr10	79065746	79065746	G	T	intronic	KCNMA1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN10072991	-	RECA-EU|1|422|0.00237	-	-	mortality/aging	Hypertension, association with |Generalized epilepsy and paroxysmal dyskinesia|Autism	COSMIC,ICGC,
chr18	19425353	19425353	C	T	intronic	MIB1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Cardiomyopathy, left ventricular noncompaction|Intellectual disability  	ICGC,
chr5	119668889	119668889	-	AC	intergenic	FAM170A,PRR16	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|2|67|0.02985	-	-	-,-	-,-	ICGC,
chr11	25695492	25695492	A	T	intergenic	LUZP2,ANO3	unknown	SNV	-	-	-	3.254e-05	rs554777374	-	0.000399361	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	normal phenotype,-	Anorectal malformation,Craniocervical dystonia|Dystonia, primary torsion	ICGC,
chr8	1222625	1222625	G	T	intergenic	ERICH1-AS1,LOC286083	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	ICGC,
chr8	110503904	110503904	C	T	intronic	PKHD1L1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Autism spectrum disorder|Potential protein deficiency	ICGC,
chr19	58758986	58758986	T	A	intronic	ZNF544	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	Potential protein deficiency	ICGC,
chr10	97008487	97008487	C	T	intronic	PDLIM1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN28006173	-	PRAD-CA|1|308|0.00325	-	-	-	-	COSMIC,ICGC,
chr11	92154255	92154255	A	T	intronic	FAT3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	vision/eye phenotype	Autism spectrum disorder	ICGC,
chr6	16526355	16526355	-	T	intronic	ATXN1	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN27415596	-	-	-	-	mortality/aging	Spinocerebellar ataxia 1|Schizophrenia, association with |Maculopathy with spinocerebellar ataxia type 1.|Intellectual disability & behavioural abnormalities|Azoospermia, association with|Amyotrophic lateral sclerosis	COSMIC,
chr17	71856350	71856350	G	A	intergenic	LINC00469,RPL38	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,-	ICGC,
chr6	139717632	139717632	T	C	intergenic	CITED2,LOC645434	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	Congenital heart defects|Low HDL cholesterol|Premature ovarian failure ,-	ICGC,
chr3	3906702	3906702	C	G	intergenic	LRRN1,SETMAR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	behavior/neurological phenotype,-	-,-	ICGC,
chr3	170714565	170714565	T	C	UTR3	SLC2A2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1930549	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging	Fanconi-Bickel syndrome|Diabetes, type 2, association with|Diabetes, permanent neonatal|Diabetes, NIDDM, susceptibility, association |Diabetes, NIDDM, association with|Diabetes, NIDDM|Diabetes mellitus, transient neonatal|Diabetes mellitus, permanent neonatal	COSMIC,ICGC,
chr3	9506315	9506315	C	T	exonic	SETD5	nonsynonymous	SNV	0.002	1.0	1.218e-05	3.228e-05	rs754049785	8.281e-06	-	-	-	COSM6325736	-	LICA-CN|1|402|0.00249	-	-	-	Intellectual disability, nonsyndromic|Intellectual disability  |Autism	COSMIC,COSMIC,ICGC,
chr3	164807670	164807670	-	A	intergenic	SI,SLITRK3	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Sucrase isomaltase deficiency,-	ICGC,
chr2	36438865	36438865	G	A	intergenic	NONE,LOC100288911	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,-	-,-	ICGC,
chr1	191103322	191103322	G	C	intergenic	LOC440704,RGS18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,no phenotypic analysis	-,Potential protein deficiency	ICGC,
chr8	138787135	138787135	G	C	intergenic	NONE,FAM135B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6915504	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr17	61189186	61189186	A	C	ncRNA_intronic	MIR548W	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21775398	-	BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr7	17975660	17975660	G	A	intronic	SNX13	unknown	SNV	-	-	-	0.0005	rs147727056	-	0.000798722	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	-	ICGC,
chr5	7978424	7978424	G	A	intergenic	MTRR,LOC729506	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	growth/size phenotype,-	Increased serum methylmalonic acid levels, association with|Methionine synthase reductase deficiency|Pancreatic cancer, increased risk, association with|Spina bifida, increased risk in offspring, association|Temporomandibular disorder, association with|Homocystinuria.|Homocystinuria, cblE type|Altered activity|Colon cancer, sporadic, reduced risk|Coronary artery disease, association with|Coronary heart disease, increased risk, association with  |Homocystinuria,-	ICGC,
chr7	30742410	30742410	T	C	intergenic	CRHR2,INMT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	vision/eye phenotype,-	-,Decreased protein stability	ICGC,
chr13	104612958	104612958	G	T	intergenic	MIR548AS,DAOA-AS1	unknown	SNV	-	-	-	3.232e-05	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr18	54057147	54057147	A	C	intergenic	LOC100505474,TXNL1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8252737	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	COSMIC,ICGC,
chr6	158541585	158541585	T	C	exonic	SERAC1	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM483617	KIPAN|1|799|0.00125,KIRC|1|451|0.00222	KIRC-US|1|408|0.00245	-	-	-	3-methylglutaconic aciduria, sensorineural deafness, hepatopathy, encephalopathy & Leigh syndrome|3-methylglutaconic aciduria, impaired OXPHOS, deafness, encephalopathy, dystonia & Leigh-like syndrome|3-methylglutaconic aciduria & Leigh syndrome	COSMIC,COSMIC,TCGA,ICGC,
chr21	42083418	42083418	A	C	intronic	DSCAM	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	RECA-EU|1|422|0.00237	-	-	mortality/aging	Bipolar disorder, association with 	ICGC,
chr20	40954954	40954954	T	G	intronic	PTPRT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	homeostasis/metabolism phenotype	Intellectual disability, behavioural problems, microcephaly & cardiac defect|Attention deficit hyperactivity disorder 	ICGC,
chr12	50374056	50374056	G	A	intergenic	AQP6,RACGAP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,-	ICGC,
chr5	116285573	116285584	AAATAAATAAAT	-	intergenic	LOC102467223,LINC00992	unknown	deletion	-	-	-	0.2681	rs138972630	-	0.302316	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-,-	-,-	ICGC,
chr9	132783408	132783408	A	C	intronic	FNBP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-	Anorectal malformation	ICGC,
chr5	143605598	143605598	G	C	intronic	KCTD16	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	-	ICGC,
chr9	90789796	90789796	G	A	intergenic	SPATA31C2,SPIN1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20735426	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr7	55192366	55192366	C	T	intronic	EGFR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Squamous cell carcinoma of head & neck |Reduced transcription|Lymph node metastasis and high-grade tumours in breast cancer, association with|Lung cancer, susceptibility to|Lung cancer, association with |Lung cancer prognosis, association with|Lung cancer|Glioblastoma, risk, association with|Gefitinib toxicity, association with|Acute coronary syndrome, association with|Altered transmembrane signaling|Bladder cancer, association with |Breast cancer, association with|Colorectal carcinoma prognosis, association with|Dilated cardiomyopathy, association with	ICGC,
chr7	131874975	131874975	T	C	intronic	PLXNA4	unknown	SNV	-	-	-	0.4988	rs6467424	-	0.636182	-	0.623	-	-	ESAD-UK|1|301|0.00332	-	-	-	Autism|Parkinson disease  	ICGC,
chr4	37524264	37524264	G	T	intronic	C4orf19	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20954549	-	BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr4	40398350	40398350	G	A	intergenic	CHRNA9,RBM47	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype,-	Increased bronchial cell proliferation and transformation,-	ICGC,
chr2	176838758	176838758	G	A	intronic	KIAA1715	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	-	ICGC,
chr16	56031072	56031072	G	A	intergenic	CES5A,LOC283856	unknown	SNV	-	-	-	0.3648	rs1510196	-	0.291334	-	0.341	-	-	LAML-KR|1|205|0.00488	-	-	-,-	-,-	ICGC,
chr2	222028628	222028628	C	T	intergenic	MIR4268,EPHA4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-,reproductive system phenotype	-,Amyotrophic lateral sclerosis, reduced disease severity	ICGC,
chr11	48259558	48259558	C	T	intergenic	OR4B1,OR4X2	unknown	SNV	-	-	-	3.228e-05	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-,-	-,Potential protein deficiency	ICGC,
chr6	66219800	66219800	T	C	intronic	EYS	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Cone-rod dystrophy, autosomal recessive.|Leber congenital amaurosis|Retinitis pigmentosa|Retinitis pigmentosa, autosomal recessive |Retinitis pigmentosa, autosomal recessive/Leber congenital amaurosis	ICGC,
chr16	24487715	24487715	T	G	intergenic	CACNG3,RBBP6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,mortality/aging	-,-	ICGC,
chr19	55162744	55162744	C	T	intergenic	MIR8061,LILRB4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr13	71445085	71445085	A	T	intergenic	ATXN8OS,LINC00348	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1623613	-	LIRI-JP|1|258|0.00388	-	-	behavior/neurological phenotype,-	Huntington disease  |Spinocerebellar ataxia 8,-	COSMIC,ICGC,
chr8	6280367	6280367	G	A	intronic	MCPH1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16550430	-	PACA-CA|1|268|0.00373	-	-	mortality/aging	Primary microcephaly|Premature chromosome condensation syndrome|Microcephaly & mental retardation|Craniosynostosis-microcephaly with chromosomal breakage|Cranial volume, association with|Autism spectrum disorder	COSMIC,ICGC,
chr6	72269285	72269285	C	A	intergenic	LOC102724000,RIMS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,mortality/aging	-,Autism|Cone-rod dystrophy|Retinitis pigmentosa, autosomal dominant	ICGC,
chr6	127338158	127338158	-	CTGT	intergenic	NONE,RSPO3	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|2|67|0.02985	-	-	-,mortality/aging	-,-	ICGC,
chr1	109203972	109203972	A	C	UTR5	HENMT1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8886001	-	OV-AU|1|93|0.01075	-	-	-	-	COSMIC,ICGC,
chr3	59884192	59884203	GTGTGTGTGTAT	-	intronic	FHIT	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	integument phenotype	-	ICGC,
chr10	63196058	63196058	A	-	intronic	TMEM26	unknown	deletion	-	-	0.0610	0.0015	rs777262351	0.0362	-	0.0406	-	COSN20070783	-	BTCA-JP|2|239|0.00837	-	-	-	-	COSMIC,COSMIC,COSMIC,ICGC,
chr12	86574080	86574080	G	A	intronic	MGAT4C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-	Prostate cancer, increased risk |Mental retardation	ICGC,
chr12	97750310	97750310	C	T	intergenic	NEDD1,RMST	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr3	64899994	64899994	C	T	ncRNA_intronic	ADAMTS9-AS2,MIR548A2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1957424	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr15	63658991	63658991	A	T	intronic	CA12	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Hyponatremia due to isolated salt wasting in sweat|Hyperchlorhidrosis	ICGC,
chr1	241794314	241794314	C	G	UTR3	CHML	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7212067	-	PACA-AU|1|391|0.00256	-	-	-	-	COSMIC,ICGC,
chr7	112647341	112647341	C	T	intergenic	LOC101928036,GPR85	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,behavior/neurological phenotype	-,-	ICGC,
chr15	71363162	71363162	A	T	intergenic	LRRC49,CT62	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	ICGC,
chrX	128852484	128852484	C	T	intergenic	APLN,XPNPEP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	vision/eye phenotype,-	-,Aminopeptidase P, reduced activity|Altered aminopeptidase P activity	ICGC,
chr8	48059481	48059481	A	G	intergenic	LINC00293,LOC100287846	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21990097	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr9	81853260	81853260	C	T	intergenic	LOC101927450,TLE4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chrX	91948861	91948861	C	T	intergenic	PCDH11X,NAP1L3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Absent speech, intellectual disability & behavioural problems|Attention deficit hyperactivity disorder & obsessive compulsive disorder|Developmental dyslexia |Language delay, nonsyndromic ,-	ICGC,
chrX	110340519	110340519	T	G	intronic	PAK3	unknown	SNV	-	-	-	0.0007	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	behavior/neurological phenotype	Mental retardation syndrome, X-linked|Mental retardation with neuropsychiatric features	ICGC,
chr4	172774475	172774475	C	T	intronic	GALNTL6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr11	96482557	96482557	G	A	intergenic	JRKL-AS1,MIR7976	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,-	-,-	ICGC,
chr2	87591905	87591905	G	A	intergenic	LOC285074,LINC00152	unknown	SNV	-	-	-	3.228e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr9	104549921	104549921	T	A	intergenic	GRIN3A,LINC00587	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9274082	-	RECA-EU|1|422|0.00237	-	-	vision/eye phenotype,-	Schizophrenia, increased risk |Schizophrenia |Potential protein deficiency,-	COSMIC,ICGC,
chr3	72680584	72680584	T	C	intergenic	RYBP,SHQ1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	-,-	ICGC,
chr12	7709098	7709098	A	G	intergenic	CD163,APOBEC1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,mortality/aging	Schizophrenia,-	ICGC,
chr6	151940689	151940689	-	T	UTR3	CCDC170	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN15126239	-	-	-	-	-	-	COSMIC,
chr4	186189551	186189551	A	T	intronic	SNX25	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr2	56588159	56588159	C	T	intronic	CCDC85A	unknown	SNV	-	-	-	0.0072	rs190562183	-	0.00419329	-	0.007	-	-	MALY-DE|1|241|0.00415	-	-	-	-	ICGC,
chr5	24901226	24901226	C	T	intergenic	LOC340107,CDH9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	ICGC,
chr4	134456995	134456995	G	A	intergenic	PCDH10,PABPC4L	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Schizophrenia|Potential protein deficiency,Autism spectrum disorder  	ICGC,
chr5	111710137	111710137	G	A	intronic	EPB41L4A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr2	140772611	140772611	C	T	intergenic	YY1P2,LRP1B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,Schizophrenia   	ICGC,
chr2	185321405	185321405	C	G	intergenic	NUP35,ZNF804A	unknown	SNV	-	-	-	0.0002	-	-	-	-	-	COSN26945306	-	UTCA-FR|1|20|0.05000,PBCA-US|1|186|0.00538	-	-	-,-	-,Neurodevelopmental disease|Reduced cortical gray matter thickness|Schizophrenia and bipolar disorder, association with|Schizophrenia, association with  	COSMIC,ICGC,
chr15	83223290	83223290	C	A	intronic	CPEB1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6545148	-	PBCA-DE|1|499|0.00200	-	-	reproductive system phenotype	-	COSMIC,ICGC,
chr10	67793952	67793952	T	A	intronic	CTNNA3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	Tourette syndrome |Sinus venosus atrial septal defect|Neural tube defects|Cervical artery dissection|Autism spectrum disorder |Attention deficit hyperactivity disorder |Arrhythmogenic right ventricular cardiomyopathy|Alzheimer disease, increased risk, association with |Adenocarcinoma	ICGC,
chr6	31552782	31552782	C	T	intergenic	LTB,LST1	unknown	SNV	-	-	-	3.232e-05	-	-	-	-	-	COSN7870478	-	PACA-AU|1|391|0.00256	-	-	mortality/aging,-	-,-	COSMIC,ICGC,
chr4	136895807	136895807	C	T	intergenic	LINC00613,PCDH18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Intellectual disability  	ICGC,
chr13	58908403	58908403	A	C	intergenic	LOC101926897,DIAPH3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,Autism  |Auditory neuropathy spectrum disorder|Auditory neuropathy	ICGC,
chr8	76989531	76989531	T	C	intergenic	HNF4G,LINC01111	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8101377	-	PACA-AU|1|391|0.00256	-	-	respiratory system phenotype,-	-,-	COSMIC,ICGC,
chr6	129445470	129445470	C	T	intronic	LAMA2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Muscular dystrophy, merosin deficient|Myopathy with sarcotubular proliferation|Schizophrenia  |Tuberculoid leprosy, association with |Muscular dystrophy, limb girdle|Muscular dystrophy, congenital 1A.|Muscular dystrophy, congenital 1A, atypical|Muscular dystrophy, congenital 1A|Laminin alpha 2 chain deficiency, partial|Cardiomyopathy, dilated, type 1A	ICGC,
chr13	86681994	86681994	A	C	intergenic	SLITRK6,MIR4500HG	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	behavior/neurological phenotype,-	High myopia and sensorineural deafness,-	ICGC,
chr6	35147085	35147085	C	T	intergenic	TCP11,SCUBE3	unknown	SNV	-	-	-	-	rs778269135	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,normal phenotype	-,-	ICGC,
chr7	102113689	102113689	G	A	UTR3	POLR2J	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24385055	-	-	-	-	-	-	COSMIC,
chr11	133232647	133232647	A	T	intronic	OPCML	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	no phenotypic analysis	Autism spectrum disorder  	ICGC,
chr12	104844223	104844223	T	C	intergenic	TXNRD1,CHST11	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging,mortality/aging	-,-	ICGC,
chr14	28836444	28836444	T	-	intergenic	LINC00645,FOXG1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	-,West syndrome |Rett-like syndrome|Rett syndrome|Refractory epilepsy & intellectual impairment|Microcephaly, mental retardation & thin genu of corpus callosum|Mental retardation, speech impairment & epilepsy|Mental retardation & speech impairment|Mental retardation & postnatal microcephaly|Mental retardation & callosum abnormalities|Mental retardation|Infantile spasms|Hemifacial microsomia|Generalized dystonia, athetosis and parkinsonism|Developmental delay, microcephaly & hypoplasia of the corpus callosum|Developmental delay, hypotonia, microcephaly & infantile spasms|Developmental delay & slow head growth|Agenesis of corpus callosum	ICGC,
chr14	63527065	63527065	G	A	intergenic	KCNH5,RHOJ	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype,vision/eye phenotype	Epileptic encephalopathy ,-	ICGC,
chr5	84575163	84575163	A	T	intergenic	EDIL3,NBPF22P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	immune system phenotype,-	Schizophrenia  ,-	ICGC,
chr2	218183119	218183119	A	G	ncRNA_intronic	DIRC3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Renal cell cancer	ICGC,
chr18	63137727	63137727	C	T	intergenic	LOC284294,CDH7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|2|100|0.02000	-	-	-,-	-,-	ICGC,
chr12	85716713	85716713	G	A	intergenic	ALX1,RASSF9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging,integument phenotype	Microphthalmia with facial clefting|Mental retardation, language delay & microcephaly |Autism spectrum disorder,-	ICGC,
chr2	168457071	168457071	C	T	intergenic	XIRP2,B3GALT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Schizophrenia,-	ICGC,
chrX	104700892	104700892	T	A	intronic	IL1RAPL2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7680099	-	PACA-AU|1|391|0.00256	-	-	-	-	COSMIC,ICGC,
chr8	3058534	3058534	C	G	intronic	CSMD1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22205570	-	BRCA-EU|1|569|0.00176	-	-	-	Schizophrenia, association with |Hyperinsulinism|Autism|Attention deficit hyperactivity disorder 	COSMIC,ICGC,
chr7	70201833	70201833	G	A	intronic	AUTS2	unknown	SNV	-	-	-	6.457e-05	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	-	Speech & language disorder, tonic-clonic movements & pes planus|Myoclonic epilepsy, juvenile |Mental retardation|Intellectual disability, syndromic  |Epilepsy, nonlesional |Developmental delay, intellectual disability, short stature, ptosis & dysmorphism|Developmental delay  |Autism spectrum disorder  |Autism	ICGC,
chr1	5780071	5780071	C	T	intergenic	MIR4417,MIR4689	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	ICGC,
chr4	130892789	130892789	G	T	intergenic	LOC101927282,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7773828	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	COSMIC,ICGC,
chr7	155908742	155908742	A	G	intergenic	LOC389602,LOC285889	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	140917839	140917839	-	ATGTGTGT	intronic	MAML3	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|3|67|0.04478	-	-	mortality/aging	-	ICGC,
chr4	17694069	17694069	A	T	intronic	FAM184B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	normal phenotype	-	ICGC,
chr4	158041767	158041767	A	G	exonic	GLRB	nonsynonymous	SNV	0.004	0.992	-	-	-	-	-	-	-	COSM4893247	SKCM|1|368|0.00272	SKCM-US|1|335|0.00299,MELA-AU|1|183|0.00546	-	-	mortality/aging	Hyperekplexia|Intellectual and developmental disabilities	COSMIC,TCGA,ICGC,
chr4	50574	50574	C	G	intergenic	NONE,ZNF595	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr3	109195926	109195926	C	T	ncRNA_intronic	LINC01205	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chrX	127216387	127216387	C	T	intergenic	ACTRT1,SMARCA1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,behavior/neurological phenotype	-,-	ICGC,
chr2	145836648	145836648	T	C	intergenic	TEX41,PABPC1P2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	ICGC,
chr4	13432279	13432279	C	A	intronic	RAB28	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24432381	-	GACA-CN|1|123|0.00813	-	-	-	Breast cancer risk, association with |Cone-rod dystrophy, autosomal recessive	COSMIC,ICGC,
chr8	76001151	76001151	A	G	intergenic	CRISPLD1,CASC9	unknown	SNV	-	-	-	6.46e-05	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr2	239924698	239924698	T	C	intergenic	FLJ43879,HDAC4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,integument phenotype	-,Anorexia nervosa/bulimia nervosa|Autism spectrum disorder|Brachydactyly mental retardation syndrome|Brachydactyly mental retardation syndrome & hyperoxaluria, type 1	ICGC,
chr16	20947683	20947683	G	A	intronic	DNAH3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	-	ICGC,
chr11	20345393	20345393	G	-	intergenic	DBX1,HTATIP2	unknown	deletion	-	-	-	0.0006	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging,integument phenotype	-,-	ICGC,
chr5	96306031	96306031	A	G	intronic	LNPEP	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22971933	-	PAEN-IT|1|37|0.02703	-	-	behavior/neurological phenotype	Psoriasis, increased risk, association with	COSMIC,COSMIC,ICGC,
chr16	70877164	70877164	C	T	intronic	HYDIN	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging	Primary ciliary dyskinesia|Autism spectrum disorder	ICGC,
chr15	45210646	45210646	T	C	intergenic	TRIM69,C15orf43	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|2|301|0.00664	-	-	-,-	-,-	ICGC,
chr19	5093849	5093849	G	A	intronic	KDM4B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17864377	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype	-	COSMIC,ICGC,
chr4	78500128	78500128	A	T	intronic	CXCL13	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9242025	-	OV-AU|1|93|0.01075	-	-	hematopoietic system phenotype	-	COSMIC,ICGC,
chr5	72638257	72638257	C	T	intergenic	TMEM174,FOXD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Branchio-oculo-facial-like syndrome	ICGC,
chr4	58922584	58922584	G	C	intergenic	IGFBP7-AS1,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23440550	-	EOPC-DE|1|202|0.00495	-	-	-,-	-,-	COSMIC,ICGC,
chr8	64531665	64531665	T	G	intergenic	YTHDF3,LINC01289	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr4	158627069	158627069	G	A	intergenic	LOC340017,FAM198B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	14369818	14369818	T	C	intergenic	LINC01085,CPEB2-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr8	125498605	125498605	C	T	exonic	RNF139	stopgain	SNV	-	-	4.09e-06	-	rs775022851	8.253e-06	-	-	-	COSM6767309	-	-	-	-	-	Dysgerminoma|Renal cell carcinoma, hereditary	COSMIC,
chr22	24656985	24656985	G	A	ncRNA_exonic	POM121L9P	unknown	SNV	-	-	-	0.0667	rs199940747	-	-	-	-	-	-	LICA-CN|4|402|0.00995,SKCA-BR|1|100|0.01000,LUSC-KR|1|170|0.00588	-	-	-	-	ICGC,
chr16	64358669	64358669	G	T	intergenic	NONE,CDH11	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CN|1|65|0.01538	-	-	-,integument phenotype	-,-	ICGC,
chr4	80598349	80598349	C	T	intergenic	LINC00989,PCAT4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr7	67203466	67203466	C	T	intergenic	LINC01372,LOC102723427	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr7	39386617	39386617	C	T	intronic	POU6F2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	normal phenotype	Wilms tumour 	ICGC,
chr8	3147881	3147881	T	C	intronic	CSMD1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16515435	-	PACA-AU|1|391|0.00256	-	-	-	Schizophrenia, association with |Hyperinsulinism|Autism|Attention deficit hyperactivity disorder 	COSMIC,COSMIC,ICGC,
chr7	68116356	68116356	T	A	intergenic	LOC102723427,LOC100507468	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr7	62199644	62199644	T	C	intergenic	NONE,ZNF733P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr5	160474419	160474419	C	T	intergenic	LOC285629,GABRB2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16025804	-	PACA-CA|1|268|0.00373	-	-	-,skeleton phenotype	-,-	COSMIC,ICGC,
chr15	95506489	95506489	G	A	intergenic	LOC440311,LINC01197	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr7	118342644	118342644	T	G	intergenic	ANKRD7,KCND2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-AU|1|391|0.00256	-	-	-,integument phenotype	-,Epilepsy, temporal lobe	ICGC,
chr21	28843507	28843507	-	A	ncRNA_intronic	MIR5009	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr18	6797113	6797113	G	A	intergenic	C18orf64,ARHGAP28	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LAML-KR|1|205|0.00488	-	-	-,-	-,-	ICGC,
chr7	21775274	21775274	C	A	exonic	DNAH11	nonsynonymous	SNV	0.001	0.998	-	-	-	-	-	-	-	COSM746460	LUSC|1|178|0.00562	LUSC-US|1|194|0.00515	-	-	hematopoietic system phenotype	Tetralogy of Fallot|Primary ciliary dyskinesia and situs inversus|Primary ciliary dyskinesia|Autism|Asthenozoospermia 	COSMIC,TCGA,ICGC,
chr9	72717816	72717816	A	G	intronic	MAMDC2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr8	132874893	132874893	C	T	intergenic	ADCY8,EFR3A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Myocardial infarction  ,Autism|Potential protein deficiency	ICGC,
chr15	100809241	100809241	G	A	intronic	ADAMTS17	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	Weill-Marchesani-like syndrome|Spherophakia with short stature|Short stature|Schizophrenia  	ICGC,
chr5	84531579	84531579	T	A	intergenic	EDIL3,NBPF22P	unknown	SNV	-	-	-	0.0340	rs76695869	-	0.0638978	-	0.058	-	-	ESAD-UK|2|301|0.00664	-	-	immune system phenotype,-	Schizophrenia  ,-	ICGC,
chr13	101050930	101050930	G	A	intronic	PCCA	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22100771	-	BRCA-EU|1|569|0.00176	-	-	integument phenotype	Propionic acidaemia	COSMIC,ICGC,
chr17	211849	211849	C	G	intergenic	RPH3AL,C17orf97	unknown	SNV	-	-	-	0.2674	rs143208778	-	0.00698882	-	0.007	COSN144688	-	-	-	-	digestive/alimentary phenotype,-	Colorectal cancer, reduced risk of recurrence, association with,-	COSMIC,
chr18	41859421	41859421	A	G	intergenic	SYT4,LOC101927921	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	behavior/neurological phenotype,-	-,-	ICGC,
chr9	110878642	110878642	G	C	intergenic	KLF4,ACTL7B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15975875	-	PACA-CA|1|268|0.00373	-	-	integument phenotype,-	-,Schizophrenia	COSMIC,ICGC,
chr2	154060892	154060892	C	A	intergenic	ARL6IP6,RPRM	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	Autism spectrum disorder|Bardet-Biedl like features,-	ICGC,
chr22	19801898	19801898	C	T	intronic	GNB1L	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Autism spectrum disorder  |Increased expression	ICGC,
chr12	93093784	93093784	T	C	intergenic	CLLU1,C12orf74	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,Potential protein deficiency|Cervical artery dissection	ICGC,
chr3	33998445	33998445	C	T	intergenic	PDCD6IP,LOC101928135	unknown	SNV	-	-	-	6.461e-05	-	-	-	-	-	COSN9548640	-	OV-AU|1|93|0.01075	-	-	-,-	Hepatocellular carcinoma, increased risk, association with,-	COSMIC,ICGC,
chr3	391197	391197	C	T	exonic	CHL1	nonsynonymous	SNV	0.661	0.148	-	-	-	-	-	-	-	COSM35687	-	-	-	-	behavior/neurological phenotype	Tetralogy of Fallot|Schizophrenia, association with|Potential protein deficiency|Mental retardation & microcephaly |Mental retardation|Learning difficulties, microcephaly and growth retardation|Intellectual disability and epilepsy	COSMIC,
chr1	98251970	98251970	-	T	intronic	DPYD	unknown	insertion	-	-	-	3.233e-05	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176,MALY-DE|1|241|0.00415	-	-	-	Schizophrenia  |Reduced enzyme activity|Intellectual disability and autism|Intellectual disability  |Increased enzyme activity|Fluoropyrimidine-related toxicity, association with|Dihydropyrimidine dehydrogenase deficiency, partial|Dihydropyrimidine dehydrogenase deficiency|Autism spectrum disorder  	ICGC,
chr21	23194295	23194295	G	A	intergenic	LINC01425,LOC101927843	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr13	28425954	28425954	G	A	ncRNA_intronic	PDX1-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	-	ICGC,
chr8	4881028	4881028	C	T	intergenic	CSMD1,LOC100287015	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Schizophrenia, association with |Hyperinsulinism|Autism|Attention deficit hyperactivity disorder ,-	ICGC,
chr14	48928709	48928709	A	T	intergenic	LINC00648,RPS29	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr2	8595889	8595889	A	G	intergenic	LINC00299,LOC101929567	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Developmental delay  ,-	ICGC,
chr5	75705456	75705456	G	A	intronic	IQGAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	mortality/aging	Potential protein deficiency	ICGC,
chr10	15537684	15537684	-	A	intergenic	FAM171A1,ITGA8	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	-,mortality/aging	-,Renal hypodysplasia|Schizophrenia, in females, association with	ICGC,
chr2	118600448	118600448	GG	AA	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr10	53005836	53005836	A	G	intronic	PRKG1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21758098	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging	Thoracic aortic aneurysms and dissections	COSMIC,ICGC,
chr20	31906462	31906462	G	T	intergenic	BPIFB1,CDK5RAP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	ICGC,
chr19	29836890	29836890	A	G	ncRNA_intronic	LOC284395	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5436595	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr16	74358156	74358156	G	A	intergenic	PSMD7,LOC283922	unknown	SNV	-	-	-	0.4486	rs7205406	-	0.54353	-	0.471	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	Ankylosing spondylitis, association with,-	ICGC,
chr18	35670567	35670567	G	A	intergenic	MIR4318,LINC00669	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr17	44049329	44049329	C	T	intronic	MAPT	unknown	SNV	-	-	0.1453	0.1239	rs75242405	0.1475	0.0872604	0.1657	0.123	COSN15666043	-	GACA-JP|1|585|0.00171	not_specified	-	integument phenotype	Parkinson disease, increased risk, association with|Parkinson disease|Pallidonigroluysian atrophy|Neurodegeneration    |Mental retardation and hypotonia|Mental retardation  |Intellectual disability, facial dysmorphism & heart defect|Phenotype modifier  |Progressive supranuclear palsy|Progressive supranuclear palsy, association with |Progressive supranuclear palsy, atypical|Respiratory failure|Semantic dementia|Supranuclear palsy, progressive|Supranuclear palsy, progressive, association with|Supranuclear palsy, progressive.|Hypotonia, developmental delay & facial dysmorphism |Frontotemporal lobar degeneration|Alzheimer disease|Alzheimer disease, association with|Alzheimer disease, increased risk, association|Alzheimer disease.|Angelman syndrome |Aphasia, progressive nonfluent|Argyrophilic grain disease|Ataxia with cognitive impairment|Corticobasal degeneration|Frontotemporal dementia/corticobasal degeneration|Frontotemporal dementia, with parkinsonism|Frontotemporal dementia, juvenile.|Frontotemporal dementia, association with|Frontotemporal dementia|Dementia, association with |Dementia with Lewy bodies	ClinVar,COSMIC,ICGC,
chr8	115909751	115909751	C	T	intergenic	CSMD3,TRPS1	unknown	SNV	-	-	-	3.229e-05	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,integument phenotype	Schizophrenia  |Colorectal cancer ,Tricho-rhino-phalangeal syndrome with supernumerary teeth|Tricho-rhino-phalangeal syndrome III|Tricho-rhino-phalangeal syndrome I|Tricho-rhino-phalangeal syndrome|Infantile scoliosis & developmental delay|Femoral neck width, association with|Ambras syndrome	ICGC,
chr6	66500792	66500792	T	A	intergenic	SLC25A51P1,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN14508608	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	COSMIC,ICGC,
chr5	43772019	43772019	A	C	intergenic	NNT,FGF10	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17779017	-	ESAD-UK|1|301|0.00332	-	-	cellular phenotype,integument phenotype	Glucocorticoid deficiency ,Tetralogy of Fallot|Orofacial clefting |Lacrimo-auriculo-dento-digital syndrome|Extreme myopia, increased risk|Chronic obstructive pulmonary disease|Aplasia of lacrimal and salivary glands	COSMIC,ICGC,
chr2	166644605	166644605	G	A	intronic	GALNT3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	integument phenotype	Tumoural calcinosis, hyperphosphataemic, familial|Tumoural calcinosis|Hyperostosis-hyperphosphatemia syndrome|Hyperostosis-hyperphosphataemia syndrome	ICGC,
chr4	84368901	84368901	G	A	intronic	HELQ	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LINC-JP|1|394|0.00254	-	-	-	Upper aerodigestive tract cancer, increased risk|Esophageal squamous cell carcinoma, increased risk|Colorectal cancer 	ICGC,
chr8	91792133	91792133	C	T	intergenic	TMEM64,NECAB1	unknown	SNV	-	-	-	8.122e-05	-	-	-	-	-	COSN2297770	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr1	188004577	188004577	C	T	intergenic	PLA2G4A,BRINP3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	mortality/aging,-	Asthma, association with|Cryptogenic multifocal ulcerating stenosing enteritis|Increased enzyme activity|Prostanoid biosynthesis deficiency,-	ICGC,
chr2	157957190	157957190	G	T	intergenic	GPD2,GALNT5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16421573	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging,normal phenotype	Intellectual disability  |Increased plasma FFA and glycerol levels|Diabetes mellitus, type 2,-	COSMIC,ICGC,
chr3	34971039	34971039	T	A	ncRNA_intronic	LOC101928135	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	-	ICGC,
chr13	78580660	78580660	T	C	intergenic	LINC01069,LINC00446	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	ICGC,
chr5	57599453	57599453	C	A	intergenic	LOC101928569,PLK2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,integument phenotype	-,-	ICGC,
chr11	49269146	49269146	C	T	intergenic	FOLH1,LOC440040	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	behavior/neurological phenotype,-	Reduced serum folate|Prostate cancer, protection against, association|Prostate cancer, association with |Increased risk of CAD & miscarriage and reduced risk of autism & cancer, association with|Increased plasma folate levels, association with|Altered plasma folate concentration, association with,-	ICGC,
chr12	123927371	123927371	C	T	intergenic	RILPL2,SNRNP35	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr6	94992934	94992934	G	A	intergenic	TSG1,MANEA-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr4	146914155	146914155	C	T	intergenic	ZNF827,LINC01095	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	204969279	204969279	G	A	intronic	NFASC	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	mortality/aging	Schizophrenia	ICGC,
chr10	115972381	115972381	C	T	intronic	TDRD1	unknown	SNV	-	-	-	0.0003	rs185129500	-	0.000599042	-	-	-	-	MELA-AU|1|183|0.00546	-	-	reproductive system phenotype	-	ICGC,
chr4	98934940	98934943	GTAT	-	intronic	STPG2	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	-	ICGC,
chr7	79592182	79592182	C	T	intergenic	MIR548M,GNAI1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,immune system phenotype	-,-	ICGC,
chr4	189502604	189502604	A	G	ncRNA_intronic	LINC01060	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr3	84589853	84589853	T	G	intergenic	NONE,LINC00971	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr12	89862895	89862895	C	A	intronic	POC1B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CN|1|65|0.01538	-	-	-	-	ICGC,
chr1	185120139	185120139	G	A	intronic	TRMT1L	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6522958	-	PBCA-DE|1|499|0.00200	-	-	reproductive system phenotype	-	COSMIC,ICGC,
chr10	130417042	130417042	T	G	intergenic	LINC01163,MGMT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,MGMT methylation in malignant pleural mesothelioma, association with|Non-Hodgkin lymphoma, increased risk|Pancreatic cancer, increased risk, association with|Promoter methylation and longer survival in glioblastoma patients, association with|Promoter methylation in colorectal cancer |MGMT methylation in lung cancer, increased risk, association with|MGMT methylation in colorectal cancer, association with|Lung cancer, risk, association with|Glioblastoma, reduced risk, association with |Endometrial cancer risk, association with|Cervical carcinoma, increased risk, association with|Cancer, increased risk|Altered enzyme activity	ICGC,
chr2	143492452	143492459	GGAGTTAC	-	intergenic	LRP1B,KYNU	unknown	deletion	-	-	-	-	-	-	-	-	-	COSN22788083	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging,-	Schizophrenia   ,Xanthurenic aciduria|Schizophrenia  |Essential hypertension, association with	COSMIC,ICGC,
chr14	90921032	90921032	A	C	upstream	LINC00642	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr12	74417064	74417064	A	G	intergenic	LOC101928137,LOC100507377	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr11	9452167	9452167	C	G	intronic	IPO7	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21657156	-	BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr21	33796692	33796692	T	C	intronic	EVA1C	unknown	SNV	-	-	-	0.1589	rs2833807	-	0.216254	-	0.109	-	-	LAML-KR|1|205|0.00488	-	-	-	-	ICGC,
chr15	59871378	59871378	T	C	intergenic	FAM81A,GCNT3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,immune system phenotype	-,-	ICGC,
chr6	65037274	65037274	T	G	intronic	EYS	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	NKTL-SG|1|50|0.02000	-	-	-	Cone-rod dystrophy, autosomal recessive.|Leber congenital amaurosis|Retinitis pigmentosa|Retinitis pigmentosa, autosomal recessive |Retinitis pigmentosa, autosomal recessive/Leber congenital amaurosis	ICGC,
chr5	23761819	23761819	A	G	intergenic	PRDM9,CDH10	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	reproductive system phenotype,-	Altered meiotic recombination hotspot usage|Azoospermia by meiotic arrest, association with |Azoospermia, non-obstructive ,-	ICGC,
chr9	68384830	68384830	A	G	intergenic	ANKRD20A3,LOC642236	unknown	SNV	-	-	-	-	rs62545649	-	-	-	-	COSN17442360	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	COSMIC,ICGC,
chr14	75201525	75201525	G	T	intronic	FCF1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr2	130100284	130100284	G	A	intergenic	LOC151121,LOC389033	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr18	45888542	45888542	GG	AA	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr6	123364953	123364953	C	T	intronic	CLVS2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr3	169823442	169823442	A	T	intronic	PHC3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-	-	ICGC,
chr6	125030956	125030956	T	G	intronic	NKAIN2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Developmental delay and recurrent infection|Various neurological abnormalities	ICGC,
chr10	17023201	17023201	-	CACACACACATACACA	intronic	CUBN	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	mortality/aging	Pulmonary atresia  |Proteinuria  |Potential protein deficiency|Megaloblastic anaemia|Imerslund-Gräsbeck syndrome|High HDL cholesterol|Albuminuria, association with	ICGC,
chr13	87147156	87147156	G	T	intergenic	SLITRK6,MIR4500HG	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	behavior/neurological phenotype,-	High myopia and sensorineural deafness,-	ICGC,
chrX	68459039	68459039	G	A	intergenic	LINC00269,FAM155B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	ICGC,
chr18	35457327	35457327	C	T	intergenic	MIR4318,LINC00669	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6121074	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,ICGC,
chr16	18937506	18937508	AGG	-	UTR5	SMG1	unknown	deletion	-	-	-	-	rs34182810	-	-	-	-	COSN20112706	-	-	-	-	-	Potential protein deficiency	COSMIC,
chr3	138078345	138078345	T	C	intronic	MRAS	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	hematopoietic system phenotype	-	ICGC,
chr1	238356521	238356521	T	-	intergenic	LOC100130331,LINC01139	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-,-	-,-	ICGC,
chr13	50214074	50214074	T	C	intergenic	ARL11,EBPL	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1611504	-	LIRI-JP|1|258|0.00388	-	-	-,-	Cancer, association with|Ovarian cancer risk|Prostate cancer, increased risk, association with,-	COSMIC,ICGC,
chr2	172314846	172314846	G	T	intronic	DCAF17	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	Woodhouse-Sakati syndrome	ICGC,
chr21	37732306	37732306	A	C	exonic	MORC3	nonsynonymous	SNV	0.151	0.871	-	-	-	-	-	-	-	-	KIPAN|1|799|0.00125,KIRP|1|282|0.00355	-	-	-	mortality/aging	-	TCGA,
chr10	98449848	98449848	C	T	intronic	PIK3AP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype	-	ICGC,
chr5	28542151	28542151	G	A	intergenic	LINC01021,LSP1P3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr1	7117947	7117947	C	T	intronic	CAMTA1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	Ataxia, non-progressive congenital|Developmental delay & learning disability|Impaired episodic memory performance, association with	ICGC,
chr2	56388693	56388693	G	A	intergenic	MIR216B,CCDC85A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	ICGC,
chr8	51843616	51843616	A	C	intergenic	SNTG1,PXDNL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	Autism|Intellectual disability, cleft palate, hearing loss and dysmorphisms,-	ICGC,
chr2	83053030	83053030	G	A	intergenic	LOC100507201,LOC1720	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr15	70047850	70047850	-	A	intergenic	LOC145837,LINC00593	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	RECA-EU|1|422|0.00237	-	-	-,-	-,-	ICGC,
chr17	10852729	10852729	G	A	intergenic	PIRT,SHISA6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	integument phenotype,-	-,-	ICGC,
chr1	207033212	207033212	C	T	intergenic	IL19,IL20	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	homeostasis/metabolism phenotype,-	Vitiligo, association with,Arthritis, systemic juvenile idiopathic, association with	ICGC,
chr8	86053398	86053407	TATATTATCC	-	intronic	LRRCC1	unknown	deletion	-	-	-	-	-	-	-	-	-	COSN22800157	-	BRCA-UK|1|141|0.00709,BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr6	164341555	164341555	G	A	intergenic	QKI,C6orf118	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21238074	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging,-	6q terminal deletion syndrome,-	COSMIC,ICGC,
chr5	81991301	81991301	G	A	intergenic	ATP6AP1L,MIR3977	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chrX	57795727	57795727	C	T	intergenic	ZXDB,ZXDA	unknown	SNV	-	-	-	0.0001	rs753656928	-	0.000264901	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr6	133739533	133739533	C	T	intronic	EYA4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Sensorineural hearing loss, nonsyndromic  |Sensorineural hearing loss, cardiac malformation & mental retardation|Sensorineural deafness|Late-onset deafness|Holoprosencephaly, middle interhemispheric variant|Hearing loss  |Dilated cardiomyopathy and sensorineural deafness	ICGC,
chr12	121420722	121420722	G	A	intronic	HNF1A	unknown	SNV	-	-	-	-	rs551851504	-	0.000199681	-	-	-	-	PBCA-US|1|186|0.00538	-	-	integument phenotype	Diabetes, type 2, early-onset |Diabetes, type 2, increased risk|Earlier manifestation of diabetes, association with|Hypercholesterolaemia ?|Hyperinsulinism|Hyperinsulism ?|Hypoglycaemia, hyperinsulinaemic|Insulin resistance, association with|Insulin sensitivity and beta-cell function, association with|Lower CRP levels in non-diabetic subjects|MODY3 and Hepatic Adenomatosis.|Serum C-peptide and insulin response|Diabetes, type 2, association with|Diabetes, renal dysplasia and hypopituitarism|Cadiovascular disease, increased risk, association with|Cardiovascular disease, increased risk|Diabetes  |Diabetes mellitus, juvenile onset, non-obese|Diabetes mellitus, type 1|Diabetes mellitus, type 2|Diabetes, association with|Diabetes, MODY3.|Diabetes, MODY3|Diabetes, MODY|Diabetes, hydronephrosis & renal stone|Diabetes, childhood-onset.	ICGC,
chr4	7675378	7675378	C	T	intronic	SORCS2	unknown	SNV	-	-	-	6.456e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr1	232383921	232383921	T	-	intergenic	TSNAX-DISC1,SIPA1L2	unknown	deletion	-	-	-	0.0002	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr6	17465623	17465623	C	T	intronic	CAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr6	127925267	127925267	-	CTTTTTT	intergenic	C6orf58,THEMIS	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,hematopoietic system phenotype	-,-	ICGC,
chr11	116142651	116142651	C	T	intergenic	LINC00900,BUD13	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	57111651	57111651	G	A	intronic	KIAA1211	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr5	130273349	130273349	A	G	intergenic	CHSY3,HINT1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16327915	-	LIRI-JP|1|258|0.00388	-	-	-,cellular phenotype	-,Axonal neuropathy with neuromyotonia	COSMIC,ICGC,
chr6	55490494	55490494	C	A	intergenic	HMGCLL1,BMP5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7887412	-	PACA-AU|1|391|0.00256	-	-	-,mortality/aging	-,Microtia |Osteoarthritis, susceptibility, association with	COSMIC,ICGC,
chr21	37802826	37802826	-	T	intergenic	CHAF1B,CLDN14	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	-,behavior/neurological phenotype	-,Deafness, autosomal recessive|Hearing loss, non-syndromic, autosomal recessive	ICGC,
chr12	89583592	89583592	G	A	intergenic	LOC728084,DUSP6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Kallmann syndrome|Hypogonadotropic hypogonadism, idiopathic|Class III Malocclusion.	ICGC,
chr1	161518284	161518284	G	T	exonic	FCGR3A	nonsynonymous	SNV	0.329	0.0	-	-	-	-	-	-	-	COSM1206933	-	-	-	-	skeleton phenotype	Wegeners granulomatosis relapse, association with|Systemic lupus erythematosus, association with|Systemic lupus erytematosus, association with|Sarcoidosis, modifer of|Resistance to anti-EGFR therapy and unfavourable prognosis, in advanced colorectal cancer, association with.|Recurrent respiratory tract infection, association|Increased risk of HIV, association with|Increased phagocytosis, association with|Higher binding capacities|Colorectal cancer progression, association with|Chronic graft-versus-host disease, association with|Anti-glomerular basement membrane antibody disease, association with	COSMIC,
chr21	47562663	47562663	G	A	intronic	FTCD	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9160612	-	OV-AU|1|93|0.01075	-	-	-	Glutamate formiminotransferase deficiency	COSMIC,ICGC,
chr1	173069747	173069747	T	C	intergenic	TNFSF18,TNFSF4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19515723	-	-	-	-	-,hematopoietic system phenotype	Autism spectrum disorder,Venous thromboembolism, association with|Systemic sclerosis, susceptibility to, association with|Systemic sclerosis, protection against, association with|Systemic sclerosis, association with|Systemic lupus erythematosus, association with|Reduced serum high-density lipoprotein cholesterol and apo AI levels, in hypertriglyceridaemia patients, association with.|Myocardial infarction, increased risk, association with|Atherosclerosis, susceptibility, association with	COSMIC,
chr3	116576883	116576883	G	A	intergenic	TUSC7,LINC00901	unknown	SNV	-	-	-	0.0001	rs190717525	-	0.000399361	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr21	45481166	45481166	C	T	intronic	TRAPPC10	unknown	SNV	-	-	-	3.236e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr9	44751228	44751228	C	T	intergenic	LOC101927827,FAM27C	unknown	SNV	-	-	-	3.288e-05	rs556979593	-	0.000199681	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr15	100366555	100366555	T	G	intergenic	DNM1P46,ADAMTS17	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,Weill-Marchesani-like syndrome|Spherophakia with short stature|Short stature|Schizophrenia  	ICGC,
chr1	225092915	225092915	T	A	intergenic	CNIH3,DNAH14	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7205997	-	PACA-AU|1|391|0.00256	-	-	-,-	-,Potential protein deficiency	COSMIC,ICGC,
chr2	231607182	231607182	G	T	intronic	CAB39	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr12	5180797	5180797	G	A	intergenic	KCNA5,LOC101929584	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	hematopoietic system phenotype,-	Pulmonary arterial hypertension|Postoperative atrial fibrillation, association with|Cardiac arrhythmia|Atrial fibrillation|Altered channel function,-	ICGC,
chr1	195354662	195354662	G	T	intergenic	NONE,KCNT2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr17	1336906	1336906	G	A	intronic	CRK	unknown	SNV	-	-	-	3.326e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Cardiovascular malformations|Mental retardation, postnatal growth retardation, facial & limb abnormalities 	ICGC,
chr11	92540986	92540986	G	T	intronic	FAT3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1550152	-	LIRI-JP|1|258|0.00388	-	-	vision/eye phenotype	Autism spectrum disorder	COSMIC,ICGC,
chr15	24154175	24154175	C	A	intergenic	NDN,PWRN2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	integument phenotype,-	-,-	ICGC,
chr12	9121988	9121988	C	T	intergenic	M6PR,KLRG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,normal phenotype	-,-	ICGC,
chr2	178956807	178956807	T	G	intronic	PDE11A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	Testicular germ cell tumour, association with|Prostate cancer, susceptibility to |Altered enzyme activity|Adrenocortical tumours|Adrenocortical hyperplasia|Adrenocortical adenoma.|Adrenocortical adenoma|ACTH-independent macronodular adrenocortical hyperplasia|ACTH-independent macronodular adrenal hyperplasia	ICGC,
chr1	22353836	22353836	T	C	ncRNA_intronic	LINC00339	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr3	76884285	76884285	T	A	intergenic	ZNF717,ROBO2	unknown	SNV	-	-	-	3.255e-05	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	Potential protein deficiency,Autism spectrum disorder  |Urinary tract anomalies|Vesicoureteral reflux	ICGC,
chr2	60040620	60040620	A	C	intergenic	LOC101927285,MIR4432	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr14	37430661	37430661	C	T	intronic	SLC25A21	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	hematopoietic system phenotype	Synpolydactyly	ICGC,
chr15	63611726	63611726	G	A	intergenic	APH1B,CA12	unknown	SNV	-	-	-	6.461e-05	-	-	-	-	-	COSN25512934	-	MALY-DE|1|241|0.00415	-	-	normal phenotype,mortality/aging	Alzheimer interaction with APOE e4|Atherosclerosis, in males, association with,Hyponatremia due to isolated salt wasting in sweat|Hyperchlorhidrosis	COSMIC,ICGC,
chr21	22294516	22294518	TTG	-	intergenic	LINC00320,NCAM2	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,taste/olfaction phenotype	-,-	ICGC,
chr6	126425682	126425682	C	T	intergenic	TRMT11,MIR5695	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	10745417	10745417	A	G	intergenic	CLNK,MIR572	unknown	SNV	-	-	-	0.3042	rs12644098	-	0.320288	-	0.355	-	-	LAML-KR|1|205|0.00488	-	-	hematopoietic system phenotype,-	Immunodeficiency, common variable, association with,-	ICGC,
chr13	24449201	24449201	-	ACATACACAC	intronic	MIPEP	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	-	ICGC,
chr2	197895545	197895545	G	T	intronic	ANKRD44	unknown	SNV	-	-	-	0.0095	rs148567022	-	0.0107827	-	-	COSN16568748	-	ESAD-UK|1|301|0.00332,PACA-CA|1|268|0.00373,PACA-AU|1|391|0.00256	-	-	-	Saccular intracranial aneurysm, association with	COSMIC,COSMIC,ICGC,
chr4	167551986	167551986	-	TGATAGATGATAGAT	intergenic	TLL1,SPOCK3	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	integument phenotype,-	Hyperinsulinism|Atrial septal defect  ,-	ICGC,
chr3	134315437	134315439	TGC	-	intergenic	CEP63,KY	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,skeleton phenotype	Microcephaly, primary, autosomal recessive  ,-	ICGC,
chr4	174764595	174764595	G	A	intergenic	HAND2-AS1,FBXO8	unknown	SNV	-	-	-	3.23e-05	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr1	224830588	224830588	C	T	intronic	CNIH3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PEME-CA|1|112|0.00893	-	-	-	-	ICGC,
chrX	141429547	141429547	T	C	intergenic	MAGEC2,SPANXN4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr2	145157326	145157326	-	T	exonic	ZEB2	frameshift	insertion	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	mortality/aging	Mowat-Wilson syndrome with cholestasis and biliary atresia|Mowat-Wilson syndrome with asplenia|Mowat-Wilson syndrome|Hirschsprung disease, modifier of|Hirschsprung disease-structural eye anomalies|Hirschsprung disease-mental retardation syndrome|Brain malformations 	ICGC,
chr2	164887376	164887376	G	C	intergenic	FIGN,GRB14	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21777490	-	BRCA-EU|1|569|0.00176	-	-	integument phenotype,hematopoietic system phenotype	-,-	COSMIC,ICGC,
chr19	56756325	56756325	G	C	intergenic	ZSCAN5A,ZNF542P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr6	41876636	41876636	G	T	intronic	MED20	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7883143	-	PACA-AU|1|391|0.00256	-	-	-	Congenital heart disease 	COSMIC,ICGC,
chr1	118505031	118505031	G	A	intronic	SPAG17	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5731114	-	LINC-JP|1|394|0.00254	-	-	-	Autism	COSMIC,ICGC,
chr7	48650929	48650929	C	T	intronic	ABCA13	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	Schizophrenia / depression|Schizophrenia / bipolar disorder / depression |Schizophrenia  |Bipolar disorder  |Autism|Anorectal malformation	ICGC,
chr7	147319182	147319182	G	C	intronic	CNTNAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7967375	-	PACA-AU|1|391|0.00256	-	-	integument phenotype	Gilles de la Tourette syndrome|Intellectual disability  |Learning disability & speech problems|Mental retardation |Mental retardation, Pitt-Hopkins-like|Multiple congenital anomalies  |Seizures, neonatal |Speech delay  |Stuttering |Epileptic encephalopathy  |Epilepsy and schizophrenia|Autism|Autism spectrum disorder |Autism spectrum disorder, modifier of|Childhood apraxia of speech|Cortical dysplasia-focal epilepsy syndrome|Developmental and/or speech and/or behavioural problems|Developmental delay  |Developmental delay & dysmorphic features|Dyslexia 	COSMIC,ICGC,
chr5	4086497	4086497	T	A	intergenic	IRX1,LOC101929153	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9951061	-	RECA-EU|1|422|0.00237	-	-	-,-	-,-	COSMIC,ICGC,
chr6	37645673	37645673	G	A	intronic	MDGA1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	cellular phenotype	-	ICGC,
chr16	77855202	77855202	T	C	intronic	VAT1L	unknown	SNV	-	-	-	3.365e-05	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	other phenotype	-	ICGC,
chr16	51735584	51735584	G	T	intergenic	SALL1,LOC101927364	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	Townes-Brocks syndrome|Renal hypodysplasia|Multiple congenital anomalies, CNS defects, cortical blindness, and absence of psychomotor development|Lenz microphthalmia syndrome|Goldenhar syndrome ,-	ICGC,
chr1	159524314	159524314	T	G	intergenic	OR10J5,APCS	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	nervous system phenotype,mortality/aging	Altered receptor function,-	ICGC,
chr4	181260288	181260288	C	G	intergenic	NONE,LINC00290	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	-,-	ICGC,
chr8	72638444	72638444	C	A	intergenic	EYA1,MSC	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19514630	-	-	-	-	mortality/aging,mortality/aging	Oto-facio-cervical syndrome|Peters' anomaly with cataracts|Renal hypodysplasia|Renal malformation|Ureteropelvic junction obstruction and reduced renal function|Iris anomaly|Hearing loss?|Deafness  |Cayler's cardiofacial syndrome|Cataract, autosomal dominant|Branchio-oto-renal syndrome|Branchio-oto-renal / branchiootic syndrome|Branchio-otic syndrome,-	COSMIC,
chr7	109266604	109266604	A	C	intergenic	C7orf66,EIF3IP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	-,-	ICGC,
chr22	47420501	47420501	G	T	intronic	TBC1D22A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr3	97439123	97439123	A	C	exonic	EPHA6	synonymous	SNV	-	-	4.284e-06	-	-	-	-	-	-	COSM5759046	-	-	-	-	behavior/neurological phenotype	Alzheimer disease  	COSMIC,COSMIC,
chr6	97998287	97998287	G	A	ncRNA_intronic	LOC101927314	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr19	58911347	58911347	C	T	intergenic	LOC646862,ZNF584	unknown	SNV	-	-	-	0.0050	rs141162403	-	0.00499201	-	-	COSN8262773	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	COSMIC,ICGC,
chr10	9288509	9288509	A	G	ncRNA_intronic	LOC101928272	unknown	SNV	-	-	-	0.0011	rs183609855	-	0.0091853	-	-	-	-	LAML-KR|1|205|0.00488	-	-	-	-	ICGC,
chr16	14616313	14616313	C	T	intronic	PARN	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN4764587	-	MALY-DE|1|241|0.00415	-	-	-	-	COSMIC,ICGC,
chr13	57783853	57783853	G	A	intergenic	PRR20A,PCDH17	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr7	81667468	81667468	C	T	exonic	CACNA2D1	synonymous	SNV	-	-	0.0378	0.0443	rs2229952	0.0385	0.019369	0.0326	0.065	-	-	ESAD-UK|2|301|0.00664	Brugada_syndrome|not_specified|Cardiovascular_phenotype	-	behavior/neurological phenotype	Short QT syndrome|Schizophrenia  |Histiocytoid cardiomyopathy|Epileptic encephalopathy  |Brugada syndrome    	ClinVar,ICGC,
chr8	9780861	9780861	G	A	intergenic	MIR124-1,MSRA	unknown	SNV	-	-	-	0.0956	rs10503396	-	0.0972444	-	0.051	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	Increased expression  ,-	ICGC,
chr1	153153627	153153627	C	T	ncRNA_intronic	LOC101928009	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|2|183|0.01093	-	-	-	-	ICGC,
chr5	35601936	35601936	G	A	intergenic	PRLR,SPEF2	unknown	SNV	-	-	-	-	rs755250052	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype,mortality/aging	Benign breast tumours, association with|Hyperprolactinaemia,-	ICGC,
chr6	92345750	92345750	C	T	ncRNA_intronic	CASC6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-	-	ICGC,
chrX	52682340	52682340	C	T	intronic	SSX7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Oligozoospermia	ICGC,
chr14	44647396	44647396	A	G	intergenic	NONE,FSCB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,Tourette syndrome 	ICGC,
chr7	75299596	75299596	G	A	intronic	HIP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Epilepsy & learning difficulties|Ovarian cancer 	ICGC,
chr18	52279973	52279973	C	T	intergenic	DYNAP,RAB27B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,-	ICGC,
chr8	143608257	143608257	A	C	intronic	BAI1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9605461	-	OV-AU|1|93|0.01075	-	-	-	-	COSMIC,ICGC,
chr8	78684012	78684012	A	G	intergenic	PEX2,PKIA	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6363981	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging,normal phenotype	Zellweger syndrome|Refsum disease, infantile|Peroxisome biogenesis disorder|Cerebellar ataxia, autosomal recessive,-	COSMIC,ICGC,
chr5	178140214	178140214	-	T	exonic	ZNF354A	frameshift	insertion	-	-	-	-	-	-	-	-	-	COSM6829606	-	GACA-JP|1|585|0.00171	-	-	-	-	COSMIC,ICGC,
chr6	50011040	50011040	T	G	downstream	DEFB112	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr17	69234538	69234538	T	C	intergenic	CASC17,LOC102723505	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25125383	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	COSMIC,ICGC,
chr21	31814026	31814026	A	T	downstream	KRTAP15-1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	OV-AU|1|93|0.01075	-	-	-	-	ICGC,
chr13	47445202	47445202	C	T	intronic	HTR2A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	skeleton phenotype	Bipolar I disorder, association with|Consolidation of episodic memory, association|Diminished hippocampal novelty processing, association with|Reduced sensitivity to clozapine, association with|Schizophrenia|Schizophrenia, association with|Suicidal behavior, association with|Systemic sclerosis, association with|Autism, association with|Attention deficit hyperactivity disorder, association with.|Affinity for and potency of atypical antipsychotic drugs, association|Age of onset, in temporal lobe epilepsy, association with.|Alcohol dependence and addiction, association with|Altered affinity for atypical antipsychotic drugs|Altered mRNA expression|Altered potency of atypical antipsychotic drugs|Altered splicing  |Anorexia nervosa, association with	ICGC,
chr22	23780285	23780285	C	T	intergenic	LOC101929374,LOC388882	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr17	54015707	54015707	G	A	intergenic	PCTP,ANKFN1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	immune system phenotype,-	-,-	ICGC,
chr7	96114964	96114964	C	T	intronic	C7orf76	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr7	114834925	114834925	-	GTGTGTGTATGT	intergenic	LINC01393,TFEC	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,integument phenotype	-,-	ICGC,
chr5	25931058	25931058	G	A	intergenic	LOC340107,CDH9	unknown	SNV	-	-	-	3.23e-05	rs745746603	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	26675007	26675007	G	A	intronic	TBC1D19	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	-	-	ICGC,
chr7	125124193	125124193	A	C	intergenic	LOC101928283,GRM8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,behavior/neurological phenotype	-,Attention deficit hyperactivity disorder|Autism spectrum disorder  	ICGC,
chr9	107267472	107267472	T	G	exonic	OR13F1	nonsynonymous	SNV	0.001	0.997	-	-	-	-	-	-	-	COSM1103465	UCEC|1|248|0.00403	UCEC-US|1|250|0.00400	-	-	-	-	COSMIC,TCGA,ICGC,
chr8	15185617	15185617	G	A	intergenic	SGCZ,TUSC3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,-	Cervical artery dissection,Mental retardation, non-syndromic, autosomal recessive|Intellectual disability, syndromic  |Intellectual disability, nonsyndromic, autosomal recessive|Intellectual disability & autism|Attention deficit hyperactivity disorder 	ICGC,
chr16	34205685	34205685	G	T	intergenic	LINC00273,UBE2MP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	NKTL-SG|1|50|0.02000	-	-	-,-	-,-	ICGC,
chr15	65378157	65378157	G	A	intergenic	KBTBD13,UBAP1L	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	Nemaline myopathy  type 6,-	ICGC,
chr6	124139278	124139278	G	A	intronic	NKAIN2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Developmental delay and recurrent infection|Various neurological abnormalities	ICGC,
chr5	156346004	156346004	G	A	downstream	TIMD4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	hematopoietic system phenotype	-	ICGC,
chr2	219638139	219638139	C	T	intergenic	TTLL4,CYP27A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	other phenotype,homeostasis/metabolism phenotype	-,Cerebrotendinous xanthomatosis|Cerebrotendinous xanthomatosis, with parkinsonism|Coronary artery disease  |Peripheral neuropathy	ICGC,
chr12	128805679	128805679	-	AAA	intronic	TMEM132C	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|7|71|0.09859	-	-	-	-	ICGC,
chr10	38578024	38578024	G	T	intergenic	LOC100129055,HSD17B7P2	unknown	SNV	-	-	-	-	rs2997800	-	-	-	-	COSN19338846	-	LAML-KR|1|205|0.00488,SKCA-BR|2|100|0.02000	-	-	-,-	-,-	COSMIC,COSMIC,ICGC,
chr17	70096061	70096061	A	G	ncRNA_intronic	SOX9-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1728057	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr18	70678675	70678675	T	C	intergenic	NETO1,LOC400655	unknown	SNV	-	-	-	0.0703	rs72958562	-	0.0573083	-	0.043	-	-	LAML-KR|1|205|0.00488	-	-	behavior/neurological phenotype,-	-,-	ICGC,
chr4	94294469	94294469	T	A	intronic	GRID2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Cerebellar ataxia & tonic upgaze|Cerebellar ataxia and atrophy|Schizophrenia|Spastic paraplegia, complicated	ICGC,
chr8	3822302	3822302	C	T	intronic	CSMD1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9262046	-	RECA-EU|1|422|0.00237	-	-	-	Schizophrenia, association with |Hyperinsulinism|Autism|Attention deficit hyperactivity disorder 	COSMIC,ICGC,
chr11	42915697	42915697	G	C	intergenic	LOC100507205,HNRNPKP3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr10	82488227	82488227	C	T	intergenic	SH2D4B,NRG3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Schizophrenia, association with |Increased ventrolateral PFC activation|Hirschsprung disease  	ICGC,
chr10	79191280	79191280	C	T	intronic	KCNMA1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Hypertension, association with |Generalized epilepsy and paroxysmal dyskinesia|Autism	ICGC,
chr16	33353082	33353082	C	T	intergenic	LOC390705,RNU6-76P	unknown	SNV	-	-	-	0.0003	rs200870215	-	-	-	-	COSN14473986	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	COSMIC,ICGC,
chr6	68711266	68711266	C	A	intergenic	NONE,BAI3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5090365	-	LINC-JP|1|394|0.00254	-	-	-,-	-,-	COSMIC,ICGC,
chrX	136513248	136513248	C	G	intergenic	GPR101,ZIC3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,mortality/aging	-,Situs abnormality|Heterotaxy|Congenital heart disease |Cardiac malformation	ICGC,
chr1	99038080	99038080	C	T	intergenic	LOC729987,SNX7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	209304386	209304386	G	T	intergenic	PLXNA2,MIR205HG	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26140016	-	PRAD-UK|1|140|0.00714	-	-	vision/eye phenotype,-	Tetralogy of Fallot,-	COSMIC,ICGC,
chr9	13697809	13697809	G	C	intergenic	FLJ41200,LINC00583	unknown	SNV	-	-	-	0.0659	rs490549	-	0.0625	-	0.072	-	-	ESAD-UK|2|301|0.00664	-	-	-,-	-,-	ICGC,
chr3	116049738	116049738	G	T	intronic	LSAMP	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	behavior/neurological phenotype	-	ICGC,
chr12	130025898	130025898	G	A	intronic	TMEM132D	unknown	SNV	-	-	-	0.0123	rs116656594	-	0.0139776	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Panic disorder  	ICGC,
chr6	103389752	103389752	A	T	intergenic	GRIK2,HACE1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23891500	-	LAML-KR|1|205|0.00488	-	-	behavior/neurological phenotype,tumorigenesis	Mental retardation, non-syndromic, autosomal recessive,Wilms tumour 	COSMIC,ICGC,
chr19	11019883	11019883	G	T	exonic	CARM1	nonsynonymous	SNV	0.0	1.0	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	mortality/aging	-	ICGC,
chr7	109599988	109599988	A	T	ncRNA_exonic	EIF3IP1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr7	119803335	119803335	C	T	intergenic	ANKRD7,KCND2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,integument phenotype	-,Epilepsy, temporal lobe	ICGC,
chr20	11856834	11856834	G	A	intergenic	LINC00687,BTBD3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	EOPC-DE|1|202|0.00495	-	-	-,-	-,-	ICGC,
chr9	14891600	14891600	T	C	intronic	FREM1	unknown	SNV	-	-	-	0.1414	rs17222108	-	0.10004	-	0.072	COSN14769856	-	-	-	-	integument phenotype	Bifid nose, renal agenesis & anorectal malformations syndrome|Craniosynostosis, isolated metopic|Diaphragmatic hernia, congenital|Manitoba-oculo-tricho-anal syndrome |Manitoba-oculo-tricho-anal syndrome with renal agenesis|Manitoba-oculo-tricho-anal syndrome with renal dysplasia	COSMIC,
chr19	21445099	21445099	G	A	intergenic	ZNF431,ZNF708	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr2	41884708	41884708	G	C	intergenic	SLC8A1,LOC388942	unknown	SNV	-	-	-	-	rs766269104	-	-	-	-	COSN25447665	-	MALY-DE|1|241|0.00415	-	-	mortality/aging,-	Colorectal cancer, increased risk, association with |Schizophrenia  ,-	COSMIC,ICGC,
chr1	163862957	163862957	C	T	intergenic	LOC100422212,PBX1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,integument phenotype	-,Schizophrenia	ICGC,
chr7	45019978	45019978	T	G	intergenic	MYO1G,SNHG15	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21236209	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr22	23412532	23412538	TGGCGGC	-	intronic	RTDR1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|3|67|0.04478	-	-	-	-	ICGC,
chr7	48709282	48709282	G	A	intergenic	ABCA13,CDC14C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	Schizophrenia / depression|Schizophrenia / bipolar disorder / depression |Schizophrenia  |Bipolar disorder  |Autism|Anorectal malformation,-	ICGC,
chr7	137726381	137726381	G	T	intergenic	CREB3L2,AKR1D1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19538298	-	-	-	-	mortality/aging,-	-,3-oxo-Delta(4)-steroid 5beta-reductase deficiency|Cholestatic liver disease in infancy	COSMIC,
chr5	85453653	85453653	T	G	intergenic	EDIL3,NBPF22P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	immune system phenotype,-	Schizophrenia  ,-	ICGC,
chr2	6919350	6919350	A	T	intergenic	LINC00487,CMPK2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Schizophrenia	ICGC,
chr5	98968161	98968161	C	T	intergenic	CTD-2151A2.1,LOC100133050	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr18	65666497	65666497	C	T	intergenic	LOC643542,TMX3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr7	128477264	128477264	G	A	exonic	FLNC	nonsynonymous	SNV	0.02	1.0	0	3.236e-05	-	-	-	-	-	COSM4823508	CESC|1|194|0.00515	CESC-US|1|194|0.00515	-	-	integument phenotype	Arrhythmia & myofibrillar myopathy, late-onset|Distal myopathy|Muscular dystrophy, limb-girdle|Myopathy, myofibrillar	COSMIC,TCGA,ICGC,
chr1	216062415	216062415	C	G	intronic	USH2A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	vision/eye phenotype	Retinitis pigmentosa?|Retinitis pigmentosa.|Sensorineural hearing loss, nonsyndromic  |Usher syndrome  |Usher syndrome 1  |Usher syndrome 2|Usher syndrome 2a|Usher syndrome 3 |Retinitis pigmentosa, recessive, no hearing loss|Retinitis pigmentosa, autosomal recessive.|Retinitis pigmentosa, autosomal recessive |Retinitis pigmentosa|Retinal degeneration|Hearing loss, early-childhood|Deafness, non-syndromic |Deafness  |Autism spectrum disorder|Autism	ICGC,
chr22	26246286	26246286	G	A	intronic	MYO18B	unknown	SNV	-	-	-	0.0003	-	-	-	-	-	-	-	EOPC-DE|1|202|0.00495	-	-	mortality/aging	Colorectal cancer, increased risk, association with|Leukemia, risk, association with |Schizophrenia	ICGC,
chr19	43026616	43026616	G	A	ncRNA_intronic	LIPE-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1768763	-	LIRI-JP|1|258|0.00388	-	-	-	-	COSMIC,ICGC,
chr17	75682216	75682216	C	A	intergenic	LOC100507351,LOC100132174	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9323294	-	OV-AU|1|93|0.01075	-	-	-,-	-,-	COSMIC,ICGC,
chr11	119760570	119760570	C	T	intergenic	LOC102724301,TRIM29	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr8	86507543	86507543	A	G	intergenic	CA2,REXO1L2P	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8579086	-	MALY-DE|1|241|0.00415	-	-	mortality/aging,-	Carbonic anhydrase deficiency,-	COSMIC,ICGC,
chr2	140895752	140895752	G	A	intergenic	YY1P2,LRP1B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Schizophrenia   	ICGC,
chr10	54573900	54573900	G	A	intergenic	MBL2,PCDH15	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	hematopoietic system phenotype,vision/eye phenotype	Leprosy, association with|Lung cancer survival, association with|Mannose-binding protein deficiency, association|Placental malaria, susceptibility to, association with|Systemic lupus erythematosus, association with|Tuberculosis, protection against, association with|Type 2 diabetes, association with|Ulcerative colitis, association with.|Vulvovaginal candidiasis, recurrent, association with|Lepromatous leprosy, protection against, association with|Kawasaki disease, association with|Antiphospholipid syndrome, association with|Bacterial infection, increased risk, association with|Colon cancer, association with|Crohn's disease, in children, association with|Dental caries, association with.|HIV-1 infection, increased susceptibility, association with|HIV-1 infection, susceptibility, association|Increased serum MBL level |Infection, in children, association with.,Usher syndrome II|Usher syndrome 1f|Usher syndrome 1|Lipid levels in hyperlipidaemia, association with|Hearing loss, non-syndromic|Deafness, non-syndromic, autosomal recessive|Deafness, non-syndromic |Deafness  	ICGC,
chr21	10861277	10861277	G	A	intergenic	TEKT4P2,TPTE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Potential protein deficiency	ICGC,
chr16	12567560	12567560	T	C	intronic	SNX29	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr8	109572617	109572617	C	T	intergenic	EMC2,TMEM74	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	22788159	22788159	G	T	intergenic	LOC102723362,KLHL29	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21684889	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chrX	153839055	153839055	G	A	intergenic	CTAG1B,CTAG1B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN18848678	-	-	-	-	-,-	-,-	COSMIC,
chr6	8379685	8379685	C	T	intergenic	EEF1E1-BLOC1S5,SLC35B3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr2	237696919	237696919	G	A	intergenic	ACKR3,COPS8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,-	ICGC,
chr5	39228183	39228183	G	A	intronic	FYB	unknown	SNV	-	-	-	6.461e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype	-	ICGC,
chr5	119435955	119435955	C	T	intergenic	FAM170A,PRR16	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr6	102466064	102466064	C	A	intronic	GRIK2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	behavior/neurological phenotype	Mental retardation, non-syndromic, autosomal recessive	ICGC,
chr15	36069560	36069560	G	A	ncRNA_intronic	DPH6-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27814613	-	UTCA-FR|1|20|0.05000	-	-	-	-	COSMIC,COSMIC,ICGC,
chr16	17701506	17701506	T	C	intergenic	XYLT1,NPIPA7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	Decreased serum glycosaminoglycan levels, association with|Desbuquois dysplasia type 2|Diabetes, type 1, protection, association |Diabetic nephropathy protection |Increased serum XT1 activity in pseudoxanthoma elasticum, association|Short stature & intellectual disability,-	ICGC,
chr12	128132218	128132218	C	T	intergenic	LOC101927637,FLJ37505	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr14	20669465	20669465	G	A	intergenic	OR11G2,OR11H6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr18	66316283	66316283	A	G	intergenic	LOC643542,TMX3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22924857	-	PAEN-IT|1|37|0.02703	-	-	-,-	-,-	COSMIC,ICGC,
chr4	35226486	35226486	G	A	intergenic	NONE,ARAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-FR|1|72|0.01389	-	-	-,-	-,-	ICGC,
chr21	16797415	16797415	G	T	intergenic	NRIP1,USP25	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21916453	-	BRCA-EU|1|569|0.00176	-	-	reproductive system phenotype,hematopoietic system phenotype	Lung cancer, susceptibility to, association with,-	COSMIC,ICGC,
chr3	36249756	36249756	CC	TT	-	-	unknown	block substitution	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr20	5345642	5345642	A	G	intergenic	PROKR2,LINC00658	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	integument phenotype,-	Kallmann syndrome, reversible|Kallmann syndrome|Hypothalamic amenorrhea|Hypopituitarism with pituitary stalk interruption|Hypopituitarism and septo-optic dysplasia|Hypopituitarism|Hypogonadotropic hypogonadism|Hypogonadism|Hirschsprung disease |GnRH deficiency|Combined pituitary hormone deficiency / septic-optic dysplasia,-	ICGC,
chr5	111203093	111203093	C	T	intronic	NREP	unknown	SNV	-	-	-	6.464e-05	rs140988478	-	0.000399361	-	-	-	-	CLLE-ES|1|510|0.00196	-	-	behavior/neurological phenotype	-	ICGC,
chr14	27573128	27573128	A	T	intergenic	LOC101927081,LINC00645	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	ICGC,
chr8	26638490	26638490	A	T	intronic	ADRA1A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23445684	-	EOPC-DE|1|202|0.00495	-	-	mortality/aging	Increased receptor signalling|Hypertension, association with |Decreased binding affinity|Complex regional pain syndrome, association with|Altered antagonist binding	COSMIC,ICGC,
chr9	38831414	38831414	G	A	intergenic	FAM201A,CNTNAP3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr4	56191571	56191571	-	AGAA	intergenic	KDR,SRD5A3	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|2|67|0.02985	-	-	integument phenotype,mortality/aging	Intracerebral haemorrhage, association with|Increased transcriptional activity|Increased mRNA levels |Increased mRNA expression  |Higher KDR mRNA levels in NSCLC, association|Haemangioma, infantile, association with|Coronary heart disease, association with|Coronary artery lesions of Kawasaki disease, association|Atherothrombotic stroke, association with,Kahrizi syndrome|Congenital disorder of glycosylation  |Cerebellar ataxia & congenital eye malformations	ICGC,
chr2	25523110	25523110	G	C	exonic	DNMT3A	nonsynonymous	SNV	1.0	0.0	-	-	-	-	-	-	-	COSM4583406	-	-	-	-	mortality/aging	Overgrowth syndrome with intellectual disability|Gastric cancer, susceptibility to |Gastric cancer, association with  |Autism spectrum disorder|Autism	COSMIC,COSMIC,
chr5	24987301	24987301	G	A	intergenic	LOC340107,CDH9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr15	94108913	94108913	C	T	intergenic	RGMA,LOC101927153	unknown	SNV	-	-	-	3.228e-05	rs530798407	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Autism,-	ICGC,
chr15	70612750	70612750	G	A	intergenic	TLE3,UACA	unknown	SNV	-	-	-	0.0007	rs539723785	-	0.000998403	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging,integument phenotype	-,Colorectal cancer |Schizophrenia	ICGC,
chr2	239628678	239628678	A	T	intergenic	LINC01107,TWIST2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Setleis syndrome	ICGC,
chr15	82120700	82120700	T	C	intergenic	LOC101929655,MEX3B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr7	108569302	108569302	A	T	intergenic	C7orf66,EIF3IP1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2191263	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,COSMIC,ICGC,
chr13	22305853	22305853	G	A	intergenic	FGF9,LINC00424	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Multiple synostoses syndrome|Gonadal dysgenesis, association with,-	ICGC,
chr6	115197517	115197517	T	C	intergenic	HS3ST5,FRK	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,homeostasis/metabolism phenotype	-,Potential protein deficiency	ICGC,
chr2	15999680	15999680	C	T	intergenic	LOC101926966,MYCNOS	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LAML-KR|1|205|0.00488	-	-	-,-	-,-	ICGC,
chr21	42105772	42105772	G	A	intronic	DSCAM	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging	Bipolar disorder, association with 	ICGC,
chr2	76983178	76983178	G	C	intronic	LRRTM4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-	-	ICGC,
chr11	25566873	25566873	G	T	intergenic	LUZP2,ANO3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	normal phenotype,-	Anorectal malformation,Craniocervical dystonia|Dystonia, primary torsion	ICGC,
chr1	70072772	70072772	G	A	intergenic	DEPDC1-AS1,LRRC7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,-	ICGC,
chr7	119776177	119776177	A	C	intergenic	ANKRD7,KCND2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	-,Epilepsy, temporal lobe	ICGC,
chr1	119332256	119332256	C	T	intergenic	SPAG17,TBX15	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	Autism,Cousin syndrome	ICGC,
chr21	10766961	10766961	G	T	intergenic	TEKT4P2,TPTE	unknown	SNV	-	-	-	-	rs180716211	-	-	-	-	-	-	LAML-KR|2|205|0.00976	-	-	-,-	-,Potential protein deficiency	ICGC,
chr3	174599449	174599449	G	A	intronic	NAALADL2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr21	10482949	10482949	G	A	intergenic	TEKT4P2,TPTE	unknown	SNV	-	-	-	0.4382	rs77236540	-	0.401358	-	-	COSN10020715	-	RECA-EU|1|422|0.00237	-	-	-,-	-,Potential protein deficiency	COSMIC,ICGC,
chr9	101199448	101199448	G	A	intronic	GABBR2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	-	ICGC,
chr4	34120047	34120047	G	A	intergenic	NONE,ARAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,-	-,-	ICGC,
chr9	107104909	107104909	T	C	intergenic	SMC2,OR13F1	unknown	SNV	-	-	-	0.1364	rs10991225	-	0.172724	-	0.138	-	-	LAML-KR|1|205|0.00488	-	-	-,-	-,-	ICGC,
chr16	77788278	77788278	G	A	intergenic	NUDT7,VAT1L	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,other phenotype	Autism spectrum disorder|Colorectal cancer ,-	ICGC,
chr8	83111002	83111002	T	A	intergenic	SNX16,LINC01419	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN20739623	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr3	188983324	188983324	G	A	intronic	TPRG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr22	39842163	39842163	C	T	intergenic	LOC100506472,MGAT3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BOCA-UK|1|130|0.00769	-	-	-,cellular phenotype	-,-	ICGC,
chr11	130414532	130414532	G	A	intergenic	ADAMTS15,MIR8052	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	-,-	ICGC,
chr14	78932547	78932547	C	G	intronic	NRXN3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	mortality/aging	Alcohol dependence, association with|Autism spectrum disorder  	ICGC,
chr12	107908879	107908879	G	A	intronic	BTBD11	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr4	169598998	169598998	C	T	intronic	PALLD	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Myocardial infarction, association with |Pancreatic cancer	ICGC,
chr12	72965895	72965895	C	T	intronic	TRHDE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	no phenotypic analysis	-	ICGC,
chr10	129680057	129680057	C	T	intronic	CLRN3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PAEN-IT|1|37|0.02703	-	-	-	-	ICGC,
chr8	65770577	65770577	C	T	intergenic	CYP7B1,LINC00251	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Spastic paraplegia 5a.|Spastic paraplegia 5a|Spastic paraplegia 5 with sensory ataxia|Spastic paraplegia 5|Spastic paraplegia|Increased transcriptional activity|HIV 1 infection, reduced risk, association with|Cholestasis, severe,-	ICGC,
chr1	163682267	163682267	G	A	intergenic	LOC100422212,PBX1	unknown	SNV	-	-	-	3.229e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Schizophrenia	ICGC,
chr11	69010309	69010309	G	C	intergenic	LOC338694,MYEOV	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17202400	-	PACA-CA|1|268|0.00373	-	-	-,-	-,Potential protein deficiency	COSMIC,ICGC,
chr12	11556901	11556901	G	A	intergenic	PRB2,LINC01252	unknown	SNV	-	-	-	6.983e-05	rs750655206	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr8	105471164	105471164	C	A	intronic	DPYS	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	Dihydropyramidinase deficiency	ICGC,
chr18	54227605	54227605	C	T	intergenic	LOC100505474,TXNL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr6	973889	973889	C	T	ncRNA_intronic	LOC285768	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr15	94074637	94074637	C	T	intergenic	RGMA,LOC101927153	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN18835077	-	-	-	-	mortality/aging,-	Autism,-	COSMIC,
chr14	47025385	47025385	T	C	intergenic	LINC00871,RPL10L	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1168198	-	LINC-JP|1|394|0.00254	-	-	-,-	-,-	COSMIC,ICGC,
chr5	58767891	58767891	G	T	intronic	PDE4D	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Psychomotor retardation, coarse facies & ocular anomalies|Intellectual disability syndrome with low body mass index & facial features|Acrodysostosis	ICGC,
chr14	82284752	82284752	G	T	intergenic	LOC101928559,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr6	31468622	31468622	C	T	intronic	MICB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	Reduced transcriptional activity|Reduced promoter activity|Null allele|Autism spectrum disorder	ICGC,
chr2	169182939	169182939	G	A	intergenic	STK39,CERS6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	reproductive system phenotype,-	Hypertension, association with,-	ICGC,
chr6	17249523	17249523	C	T	intergenic	STMND1,RBM24	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	213779504	213779504	C	G	intergenic	RPS6KC1,LINC00538	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	ICGC,
chr3	168441019	168441019	G	A	ncRNA_intronic	EGFEM1P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr4	80590889	80590889	A	T	intergenic	LINC00989,PCAT4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	-,-	ICGC,
chr12	91553174	91553174	G	C	intronic	DCN	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype	Renal disease, slower progress in diabetes, association with|Congenital stromal dystrophy	ICGC,
chr7	146592184	146592184	G	A	intronic	CNTNAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	Gilles de la Tourette syndrome|Intellectual disability  |Learning disability & speech problems|Mental retardation |Mental retardation, Pitt-Hopkins-like|Multiple congenital anomalies  |Seizures, neonatal |Speech delay  |Stuttering |Epileptic encephalopathy  |Epilepsy and schizophrenia|Autism|Autism spectrum disorder |Autism spectrum disorder, modifier of|Childhood apraxia of speech|Cortical dysplasia-focal epilepsy syndrome|Developmental and/or speech and/or behavioural problems|Developmental delay  |Developmental delay & dysmorphic features|Dyslexia 	ICGC,
chr9	126496306	126496306	-	CATAGTT	intronic	DENND1A	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LINC-JP|1|394|0.00254	-	-	-	Polycystic ovary syndrome, increased risk	ICGC,
chrX	58573131	58573131	G	C	intergenic	ZXDA,NONE	unknown	SNV	-	-	-	-	rs4249582	-	-	-	-	COSN19627798	-	LAML-KR|1|205|0.00488,LUSC-KR|1|170|0.00588	-	-	-,-	-,-	COSMIC,ICGC,
chrX	57097324	57097324	G	A	intergenic	SPIN3,SPIN2B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17069914	-	-	-	-	-,-	-,-	COSMIC,
chr5	173846895	173846895	C	A	intergenic	HMP19,MSX2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	-,Parietal foramina with cleidocranial dysplasia|Neural tube defect, increased risk, association with|Foramina parietalia permagna|Enlarged parietal foramina|Craniosynostosis, Boston-type|Craniosynostosis|Cleidocranial dysplasia|Cleft lip 	ICGC,
chr5	114133966	114133966	A	C	intergenic	KCNN2,TRIM36	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|2|301|0.00664	-	-	integument phenotype,-	-,-	ICGC,
chr6	84443040	84443040	A	G	intergenic	SNAP91,RIPPLY2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9810292	-	OV-AU|1|93|0.01075	-	-	-,mortality/aging	-,-	COSMIC,ICGC,
chr7	125945326	125945326	C	T	intergenic	LOC101928283,GRM8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,behavior/neurological phenotype	-,Attention deficit hyperactivity disorder|Autism spectrum disorder  	ICGC,
chr1	195391500	195391500	G	A	intergenic	NONE,KCNT2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	132455777	132455777	G	A	intergenic	LOC101927282,PCDH10	unknown	SNV	-	-	-	-	rs773451680	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Schizophrenia|Potential protein deficiency	ICGC,
chr13	27962145	27962145	G	A	intergenic	RASL11A,GTF3A	unknown	SNV	-	-	-	3.251e-05	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr8	145579205	145579205	G	T	exonic	FBXL6	nonsynonymous	SNV	0.0	0.001	-	-	-	-	-	-	-	COSM6321363	-	LICA-CN|1|402|0.00249	-	-	-	Autism	COSMIC,ICGC,
chr4	5315526	5315526	G	A	intronic	STK32B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr4	124271490	124271490	-	TTCT	intergenic	SPATA5,SPRY1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	-,mortality/aging	-,-	ICGC,
chrX	1562506	1562506	G	T	intronic	ASMTL	unknown	SNV	-	-	-	0.0002	rs868857735	-	-	-	0.014	COSN23888484	-	LAML-KR|1|205|0.00488,SKCA-BR|1|100|0.01000,MALY-DE|1|241|0.00415	-	-	-	Potential protein deficiency	COSMIC,COSMIC,ICGC,
chr13	61693087	61693087	C	T	intergenic	LINC00378,MIR3169	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr11	115683968	115683968	G	A	intergenic	LINC00900,BUD13	unknown	SNV	-	-	-	3.228e-05	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr10	23883241	23883241	C	T	intergenic	OTUD1,KIAA1217	unknown	SNV	-	-	-	-	rs577002910	-	0.000199681	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Autism spectrum disorder	ICGC,
chr7	48328716	48328716	C	T	intronic	ABCA13	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Schizophrenia / depression|Schizophrenia / bipolar disorder / depression |Schizophrenia  |Bipolar disorder  |Autism|Anorectal malformation	ICGC,
chr16	73698299	73698299	C	T	intergenic	LOC100506172,LOC101928035	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,-	-,-	ICGC,
chr6	51255308	51255312	AACTT	-	intergenic	TFAP2B,PKHD1	unknown	deletion	-	-	-	0.0921	rs150051212	-	0.0800719	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,mortality/aging	Patent ductus arteriosus|Nonsyndromic patent ductus arteriosus|Neonatal temperament, association with|Increased expression, association with|Female alcoholism, severe, association with|Endocardial cushion defect|Diabetes, type 2, asssociation with|Char syndrome|Cardiac defects,Renal cystic disease and hepatic fibrosis.|Protection against colorectal cancer|Polycystic kidney disease |Caroli disease	ICGC,
chr5	121439380	121439380	G	A	intergenic	LOX,ZNF474	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,-	Breast cancer, increased risk, in African American women, association with|Increased risk of breast cancer in Chinese females, association with|Osteosarcoma, assocation with|Osteosarcoma, susceptibility to,-	ICGC,
chr2	125667125	125667125	G	A	intronic	CNTNAP5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	Autism	ICGC,
chr10	109092817	109092817	C	T	intergenic	SORCS1,RNU6-53P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	other phenotype,-	Autism ,-	ICGC,
chr9	12121662	12121662	C	T	intergenic	PTPRD-AS2,TYRP1	unknown	SNV	-	-	-	3.239e-05	-	-	-	-	-	COSN5241822	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	-,Albinism, oculocutaneous  |Albinism, oculocutaneous 3|Melanesian blond hair	COSMIC,ICGC,
chr15	71589316	71589316	C	A	intronic	THSD4	unknown	SNV	-	-	-	0.0007	rs80266923	-	0.00139776	-	-	-	-	LAML-KR|1|205|0.00488	-	-	-	-	ICGC,
chr15	58275899	58275899	G	A	intronic	ALDH1A2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Pentalogy of Cantrell|Tetralogy of Fallot	ICGC,
chr1	151991161	151991161	A	G	ncRNA_exonic	NBPF18P	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26464805	-	LICA-CN|1|402|0.00249	-	-	-	-	COSMIC,ICGC,
chrX	119861182	119861182	G	A	intergenic	C1GALT1C1,CT47B1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	mortality/aging,-	-,-	ICGC,
chr8	134171568	134171568	-	A	intergenic	TG,WISP1	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN25574552	-	-	-	-	hematopoietic system phenotype,behavior/neurological phenotype	Thyroid dyshormonogenesis|Thyroid cancer, increased risk, association with|Thyroglobulin retention & hypothyroidism|Potential protein deficiency|Hypothyroidism|Goitre, simple|Goitre, dyshormonogenetic|Autoimmune thyroid disease, association with|Goitre with hypothyroidism|Goitre with hypothyroidism.|Goitre, adenomatous|Goitre, congenital,Potential protein deficiency	COSMIC,
chr7	19099179	19099179	C	T	intergenic	HDAC9,TWIST1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,mortality/aging	Peters' anomaly |Immunodeficiency, common variable, association with  ,Synostotic frontal plagiocephaly|Saethre-Chotzen-like syndrome, intellectual disability & autism|Saethre-Chotzen-like syndrome|Saethre-Chotzen syndrome & hyper IgE syndrome|Saethre-Chotzen syndrome & hand-foot-uterus syndrome|Saethre-Chotzen syndrome|Robinow-Sorauf syndrome|Plagiocephaly |Microcephaly, facial dysmorphism and short stature|Craniosynostosis.|Craniosynostosis|Brachicephaly |Baller-Gerold syndrome	ICGC,
chr8	119548524	119548524	A	C	intronic	SAMD12	unknown	SNV	-	-	-	0.0383	rs62531913	-	0.0303514	-	0.007	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr18	32992658	32992658	T	-	intergenic	ZNF396,INO80C	unknown	deletion	-	-	-	0.0010	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-,-	-,-	ICGC,
chr4	85271999	85271999	C	T	intergenic	AGPAT9,NKX6-1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,-	ICGC,
chr11	123479106	123479106	C	T	intronic	GRAMD1B	unknown	SNV	-	-	-	-	rs548040575	-	0.000199681	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	no phenotypic analysis	-	ICGC,
chr18	64141243	64141243	T	C	intergenic	CDH7,CDH19	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22578547	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,Tetralogy of Fallot	COSMIC,ICGC,
chr2	148300196	148300196	G	A	intergenic	PABPC1P2,ACVR2A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,-	ICGC,
chr9	17010499	17010499	C	T	intergenic	BNC2,CNTLN	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	CLLE-ES|1|510|0.00196	-	-	mortality/aging,-	Total anomalous pulmonary venous return |Partial anomalous pulmonary venous return |Hypospadias & partial anomalous pulmonary venous return |Hypospadias ,-	ICGC,
chr18	40507440	40507440	A	G	intronic	RIT2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr19	22539023	22539023	T	A	intergenic	ZNF729,ZNF98	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr6	13119604	13119604	G	C	intronic	PHACTR1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	-	Intellectual disability  	ICGC,
chr4	163411709	163411709	G	A	intergenic	FSTL5,NAF1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,-	Schizophrenia  |Rolandic epilepsy ,-	ICGC,
chr3	169121426	169121426	G	A	intronic	MECOM	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|1|183|0.00546	-	-	mortality/aging	Decreased expression|Thrombocytopaenia with aplastic anaemia	ICGC,
chr15	62592321	62592321	G	C	intergenic	C2CD4B,MIR8067	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr2	87045557	87045557	C	T	intronic	CD8B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype	-	ICGC,
chr9	120296856	120296856	-	TATATG	intergenic	ASTN2,LOC101928797	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	Autism spectrum disorder |Intellectual disability  |Schizophrenia  ,-	ICGC,
chrX	101318863	101318863	C	A	intergenic	ZMAT1,TCEAL2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-,-	-,-	ICGC,
chr20	31745348	31745348	C	A	intergenic	BPIFB4,BPIFA2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9126043	-	OV-AU|1|93|0.01075	-	-	-,-	-,-	COSMIC,ICGC,
chr13	84327596	84327596	C	T	intergenic	NONE,SLITRK1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Trichotillomania|Tourette syndrome|Obsessive-compulsive disorder |Attention deficit hyperactivity disorder 	ICGC,
chr7	62710349	62710349	C	T	intergenic	NONE,ZNF733P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr4	166706577	166706577	T	A	intergenic	LINC01179,TLL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,integument phenotype	-,Hyperinsulinism|Atrial septal defect  	ICGC,
chr3	22128583	22128583	G	A	intergenic	ZNF385D-AS2,UBE2E2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	36076929	36076929	T	C	intronic	ARAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr13	92878426	92878426	C	T	intronic	GPC5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Spina bifida  	ICGC,
chr14	23418267	23418267	G	A	ncRNA_intronic	LOC101926933	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-UK|1|141|0.00709	-	-	-	-	ICGC,
chr19	50010246	50010246	G	C	intergenic	MIR150,FCGRT	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	-,immune system phenotype	-,Increased transcription	ICGC,
chr18	58269359	58269359	C	T	intergenic	MC4R,CDH20	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	hematopoietic system phenotype,-	Obesity, severe|Reduced activity|Reduced function   |Reduced transcriptional activity|Weight loss after gastric bypass surgery, association with|Obesity, protection against, association with|Obesity, early onset|Obesity, autosomal dominant, association with|Obesity, autosomal dominant|Obesity, association with.|Obesity|Melanocortin-4 receptor variant|Decreased body mass, association with,-	ICGC,
chr11	106560390	106560390	A	T	intronic	GUCY1A2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24931420	-	LICA-FR|1|252|0.00397	-	-	hematopoietic system phenotype	-	COSMIC,ICGC,
chr18	24194054	24194054	C	A	intronic	KCTD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-	Scalp-ear-nipple syndrome	ICGC,
chr5	115782951	115782951	G	T	exonic	SEMA6A	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM5834909	-	BRCA-US|1|955|0.00105	-	-	vision/eye phenotype	-	COSMIC,COSMIC,ICGC,
chrY	58975265	58975265	C	A	intergenic	NONE,SPRY3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	-,Altered meiotic recombination hotspot usage	ICGC,
chr5	25021003	25021003	G	T	intergenic	LOC340107,CDH9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr20	55565604	55565604	-	A	intergenic	TFAP2C,BMP7	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373,PBCA-US|1|186|0.00538	-	-	mortality/aging,integument phenotype	-,Hypospadias|Eye / skeletal anomalies	ICGC,
chr18	37978467	37978467	G	A	intergenic	LOC101927900,KC6	unknown	SNV	-	-	-	6.465e-05	-	-	-	-	-	COSN14548609	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	COSMIC,ICGC,
chrX	121929401	121929401	G	A	intergenic	GLUD2,GRIA3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	Parkinson disease, earlier onset, association with,Mental retardation, X-linked|Intellectual disability, X-linked with facial dysmorphism|Intellectual disability, X-linked|Autism spectrum disorder	ICGC,
chr15	78602069	78602069	G	T	intergenic	WDR61,CRABP1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7249369	-	PACA-AU|1|391|0.00256	-	-	-,mortality/aging	-,-	COSMIC,ICGC,
chr3	47303540	47303540	G	A	intronic	KIF9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr1	153535980	153535980	G	A	intronic	S100A2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr7	102907995	102907995	G	C	ncRNA_intronic	DPY19L2P2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr11	46680137	46680137	G	T	intronic	ATG13	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21549403	-	BRCA-UK|1|141|0.00709,BRCA-EU|1|569|0.00176	-	-	-	-	COSMIC,ICGC,
chr8	131072886	131072886	G	A	exonic	ASAP1	nonsynonymous	SNV	0.353	0.93	-	-	-	-	-	-	-	COSM3924627	SKCM|2|368|0.00543	SKCM-US|1|335|0.00299	-	-	-	Schizophrenia	COSMIC,TCGA,ICGC,
chr16	427219	427219	G	T	intronic	TMEM8A	unknown	SNV	-	-	-	0.0008	rs192073589	-	0.00399361	-	-	-	-	LAML-KR|1|205|0.00488	-	-	-	Autism	ICGC,
chr15	102170358	102170358	A	G	intergenic	PCSK6,TM2D3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	mortality/aging,-	Handedness, association with,-	ICGC,
chr3	10964125	10964125	G	T	intronic	SLC6A11	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7552022	-	PACA-AU|1|391|0.00256	-	-	mortality/aging	Antiepileptic drug pharmacoresistance, association with 	COSMIC,ICGC,
chr14	106329114	106329114	C	T	intergenic	ELK2AP,KIAA0125	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25635859	-	CLLE-ES|1|510|0.00196,MALY-DE|2|241|0.00830	-	-	-,-	-,-	COSMIC,COSMIC,ICGC,
chr15	50288970	50288970	G	A	intronic	ATP8B4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr11	22367242	22367242	G	T	intronic	SLC17A6	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8217831	-	PACA-CA|1|268|0.00373	-	-	integument phenotype	-	COSMIC,ICGC,
chr9	106783149	106783150	CT	-	intergenic	LOC101928523,SMC2-AS1	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|2|67|0.02985	-	-	-,-	-,-	ICGC,
chr2	37459260	37459260	A	T	exonic	NDUFAF7	nonsynonymous	SNV	0.094	0.0	-	-	-	-	-	-	-	COSM6467225	-	-	-	-	-	-	COSMIC,
chr6	165700908	165700908	-	A	intronic	C6orf118	unknown	insertion	-	-	-	0	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr9	137703221	137703221	G	A	exonic	COL5A1	nonsynonymous	SNV	0.0	1.0	-	-	-	-	-	-	-	-	-	GACA-JP|1|585|0.00171	-	-	integument phenotype	Ehlers-Danlos syndrome with superior mesenteric artery aneurism|Ehlers-Danlos syndrome II|Ehlers-Danlos syndrome I|Ehlers-Danlos syndrome|Disease-modifying in heterozygosity|Decreased mRNA stability|Chronic achilles tendinopathy, association with|Cervical artery dissection, increased risk 	ICGC,
chr4	140678672	140678672	C	T	intronic	MAML3	unknown	SNV	-	-	-	0.0008	rs570799472	-	0.000599042	-	-	-	-	MALY-DE|1|241|0.00415	-	-	mortality/aging	-	ICGC,
chr13	65233332	65233332	C	T	intergenic	OR7E156P,PCDH9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr22	35302591	35302591	A	G	intergenic	LARGE,ISX	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN10030037	-	RECA-EU|1|422|0.00237	-	-	mortality/aging,no phenotypic analysis	Alpha-dystroglycanopathy |Autism, non-complex|Fukushima congenital muscular dystrophy|Muscular dystrophy, congenital 1D|Walker-Warburg syndrome|Walker-Warburg syndrome.,-	COSMIC,ICGC,
chr4	64917991	64917991	T	C	intergenic	LPHN3-AS1,TECRL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-UK|1|140|0.00714	-	-	-,-	-,-	ICGC,
chr6	87052570	87052570	G	A	intergenic	SNHG5,HTR1E	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21192512	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr19	19623928	19623928	T	C	intergenic	GATAD2A,TSSK6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging,reproductive system phenotype	-,-	ICGC,
chr15	68069630	68069630	C	T	intronic	MAP2K5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	COCA-CN|1|321|0.00312	-	-	mortality/aging	Anxiety and depressive disorder, association with	ICGC,
chr18	52534918	52534918	C	T	intronic	RAB27B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	integument phenotype	-	ICGC,
chr13	75161634	75161634	T	A	intergenic	LINC00347,CTAGE11P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	-,-	ICGC,
chr20	7251887	7251887	T	G	intergenic	LINC01428,LOC101929312	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332,GACA-CN|1|123|0.00813	-	-	-,-	-,-	ICGC,
chr3	55107583	55107583	G	A	exonic	CACNA2D3	synonymous	SNV	-	-	4.065e-06	-	rs761665324	8.302e-06	-	-	-	COSM6871216	-	-	-	-	integument phenotype	Autism 	COSMIC,
chr15	23723010	23723010	T	C	intergenic	GOLGA8S,MIR4508	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9622328	-	RECA-EU|1|422|0.00237	-	-	-,-	-,-	COSMIC,ICGC,
chr9	35458126	35458126	G	A	ncRNA_intronic	ATP8B5P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr9	111965436	111965436	A	G	intronic	EPB41L4B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8117593	-	PACA-AU|1|391|0.00256	-	-	-	-	COSMIC,ICGC,
chr11	31398572	31398572	C	T	intronic	DNAJC24	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	-	ICGC,
chr4	35277077	35277077	T	G	intergenic	NONE,ARAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23686579	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr5	4838735	4838735	G	A	intergenic	LOC101929153,LINC01020	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	192326121	192326121	C	T	intronic	RGS21	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr2	156085692	156085692	A	T	intergenic	KCNJ3,AC093375.1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1800168	-	LIRI-JP|1|258|0.00388	-	-	cardiovascular system phenotype,-	Schizophrenia, association with  ,-	COSMIC,ICGC,
chr5	41067528	41067528	G	A	intronic	MROH2B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr10	132075955	132075955	G	A	intergenic	GLRX3,MIR378C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	-,-	ICGC,
chr17	71956107	71956107	G	A	intergenic	LINC00469,RPL38	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,-	ICGC,
chr8	112634482	112634482	-	TA	intergenic	KCNV1,CSMD3	unknown	insertion	-	-	-	0.0860	rs55729122	-	0.0599042	-	-	COSN27929866	-	-	-	-	behavior/neurological phenotype,-	-,Schizophrenia  |Colorectal cancer 	COSMIC,
chr20	54365475	54365475	G	T	intergenic	LINC01441,CBLN4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27915793	-	PRAD-CA|1|308|0.00325	-	-	-,normal phenotype	-,-	COSMIC,ICGC,
chr7	46290026	46290026	C	T	intergenic	IGFBP3,TNS3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	behavior/neurological phenotype,mortality/aging	Prostate cancer, increased risk|Plasma IGFBP-3 levels, association with|Pancreatic cancer, clinical outcome, association with|Lung cancer, increased risk, association with|Increased IGFBP-3 levels, association with|IGFBP-3 levels|Higher promoter activity, association with|Drug response, association with|Decreased IGFBP-3 levels, association with|Colorectal cancer, association with,Renal agenesis, pulmonary infections & growth/developmental delay	ICGC,
chr4	136816502	136816502	C	T	ncRNA_intronic	LINC00613	unknown	SNV	-	-	-	9.693e-05	rs555984554	-	0.000199681	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr13	49416482	49416482	G	A	intergenic	CYSLTR2,FNDC3A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,reproductive system phenotype	Increased expression|Atopy, association with,-	ICGC,
chr8	95066057	95066057	G	A	intergenic	PDP1,CDH17	unknown	SNV	-	-	-	0.1156	rs12541637	-	0.109824	-	0.080	-	-	ESAD-UK|1|301|0.00332	-	-	-,hematopoietic system phenotype	Pyruvate dehydrogenase phosphatase deficiency,-	ICGC,
chr11	14225471	14225471	G	C	intronic	SPON1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chrX	14983910	14983910	T	-	intergenic	MOSPD2,ASB9	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr14	42956208	42956208	A	-	intergenic	LRFN5,FSCB	unknown	deletion	-	-	-	3.267e-05	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813,OV-AU|1|93|0.01075	-	-	-,-	Short stature|Developmental delay, seizures & learning problems ,Tourette syndrome 	ICGC,
chr5	177564048	177564048	C	T	intronic	RMND5B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-	-	ICGC,
chr4	165109491	165109491	C	T	intronic	MARCH1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype	-	ICGC,
chr8	129746747	129746747	G	C	intergenic	LINC00824,LINC00977	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	ICGC,
chr8	145616263	145616263	G	T	intronic	ADCK5	unknown	SNV	-	-	5.74e-05	-	rs782435769	8.391e-05	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr6	42153544	42153544	G	C	intronic	GUCA1B	unknown	SNV	-	-	-	-	-	-	-	-	-	COSM3784684	-	PACA-AU|1|391|0.00256	-	-	vision/eye phenotype	Usher syndrome |Retinitis pigmentosa, atypical |Retinitis pigmentosa |Retinal dystrophy, autosomal dominant	COSMIC,ICGC,
chr3	127921061	127921061	-	A	intronic	EEFSEC	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN22868686	-	-	-	-	-	-	COSMIC,
chr8	94935248	94935248	G	T	exonic	PDP1	stopgain	SNV	-	-	-	-	-	-	-	-	-	COSM3432625	-	LICA-CN|1|402|0.00249,READ-US|1|94|0.01064	-	-	-	Pyruvate dehydrogenase phosphatase deficiency	COSMIC,COSMIC,ICGC,
chr2	13642847	13642847	C	T	intergenic	LOC100506474,LINC00276	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr7	26272822	26272822	G	A	intergenic	CBX3,SNX10	unknown	SNV	-	-	-	3.233e-05	-	-	-	-	-	COSN23060879	-	MALY-DE|1|241|0.00415	-	-	mortality/aging,-	-,Osteopetrosis  |Osteopetrosis & corpus callosum hypoplasia|Osteopetrosis, infantile, autosomal recessive	COSMIC,ICGC,
chr5	86550383	86550383	T	C	intergenic	LOC101929380,RASA1	unknown	SNV	-	-	-	-	rs139472103	-	0.000199681	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,mortality/aging	-,Pial fistulae & intracranial AV fistula|Parkes-Weber syndrome with lymphatic abnormalities|Capillary malformations, multifocal|Capillary malformations|Capillary malformation-arteriovenous malformation|Capillary malformation - arteriovenous malformation|Arteriovenous malformation |Arteriovenous fistula|5q14.3 neurocutaneous syndrome|Sturge-Weber syndrome	ICGC,
chr7	125064355	125064355	A	T	intergenic	LOC101928283,GRM8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,behavior/neurological phenotype	-,Attention deficit hyperactivity disorder|Autism spectrum disorder  	ICGC,
chr4	122421486	122421486	G	A	intergenic	QRFPR,ANXA5	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27643347	-	NKTL-SG|1|50|0.02000	-	-	skeleton phenotype,immune system phenotype	-,Myocardial infarction, reduced risk, association	COSMIC,ICGC,
chr3	110728039	110728039	G	A	intergenic	LINC01205,PVRL3-AS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr13	69150815	69150815	C	T	intergenic	PCDH9,LINC00550	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr10	61143523	61143523	C	T	intergenic	FAM13C,SLC16A9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	24810598	24810598	T	C	intergenic	CDH10,LOC340107	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr21	35169684	35169684	C	T	exonic	ITSN1	stopgain	SNV	-	-	-	-	-	-	-	-	-	COSM6689006	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Developmental delay  |Schizophrenia	COSMIC,COSMIC,COSMIC,ICGC,
chr7	105296499	105296499	G	A	intronic	ATXN7L1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr14	26573947	26573947	A	C	intergenic	STXBP6,NOVA1	unknown	SNV	-	-	-	0.3519	rs59778850	-	0.246406	-	0.341	-	-	LAML-KR|1|205|0.00488	-	-	-,mortality/aging	-,-	ICGC,
chr1	214709712	214709712	C	T	intronic	PTPN14	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	vision/eye phenotype	Choanal atresia/lymphedema syndrome	ICGC,
chr8	10667498	10667498	G	A	intronic	PINX1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype	-	ICGC,
chr1	37480477	37480477	-	GTTCT	intronic	GRIK3	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	nervous system phenotype	Developmental delay  |Schizophrenia|Schizophrenia, association with	ICGC,
chr5	157967819	157967819	G	A	intergenic	LOC101927697,EBF1	unknown	SNV	-	-	-	9.718e-05	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,integument phenotype	-,-	ICGC,
chr1	173798694	173798694	G	A	intronic	DARS2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	mortality/aging	Episodic ataxia, exercise-induced|Leukoencephalopathy with brainstem & spinal cord involvement|Leukoencephalopathy, brain & spinal cord, lactate elevation, asymptomatic|Leukoencephalopathy, brain & spine involvement, lactate elevation	ICGC,
chr1	52272445	52272445	A	G	intronic	NRD1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26465928	-	LICA-CN|1|402|0.00249	-	-	mortality/aging	-	COSMIC,ICGC,
chr18	28662386	28662386	C	T	exonic	DSC2	nonsynonymous	SNV	0.226	0.916	2.447e-05	-	rs751810874	2.52e-05	-	-	-	-	-	-	not_specified	-	-	Potential protein deficiency|Cardiomyopathy, dilated |Atrial fibrillation without significant ventricular arrhythmias.|Arrhythmogenic right ventricular dysplasia/cardiomyopathy.|Arrhythmogenic right ventricular dysplasia/cardiomyopathy|Arrhythmogenic right ventricular cardiomyopathy	ClinVar,
chr12	104634132	104634132	A	G	intronic	TXNRD1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN217520	-	-	-	-	mortality/aging	-	COSMIC,
chr15	65219165	65219165	G	T	exonic	ANKDD1A	synonymous	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr21	28009494	28009494	-	TTA	intergenic	CYYR1,ADAMTS1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,Schizophrenia	ICGC,
chr4	74315136	74315136	G	T	exonic	AFP	nonsynonymous	SNV	0.003	0.978	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	mortality/aging	Alpha-fetoprotein deficiency|Cirrhosis, association with|Hepatocellular carcinoma, increased risk, association with|Hepatocellular carcinoma, reduced risk, association with|Hereditary persistence of alpha-fetoprotein	ICGC,
chr11	30591872	30591872	C	T	intronic	MPPED2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-	-	ICGC,
chr8	17345579	17345579	C	G	intergenic	MTMR7,SLC7A2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN4878521	-	MALY-DE|1|241|0.00415	-	-	-,immune system phenotype	-,Infantile encephalopathy with anorexia	COSMIC,ICGC,
chr1	207546942	207546942	-	A	intergenic	CD55,CR2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	BTCA-SG|2|71|0.02817	-	-	mortality/aging,mortality/aging	Cromer blood group|Event-free survival, in follicular lymphoma, association with.|Extraocular muscle pareses in myasthenia gravis|H1N1 influenza A virus infection, 2009 pandemic, increased severity, association with,Lupus development, association with|Increased transcriptional activity|Hypogammaglobulinaemia  |Haemolytic uraemic syndrome, atypical	ICGC,
chr20	42826177	42826177	C	T	exonic	OSER1	nonsynonymous	SNV	0.115	0.015	4.065e-06	-	rs759416435	8.241e-06	-	-	-	COSM3405104	GBM|1|290|0.00345,GBMLGG|1|820|0.00122	GBM-US|1|276|0.00362	-	-	-	-	COSMIC,TCGA,ICGC,
chr1	194120125	194120153	TTGCCTGCTTTGTGGTCCAATTCCAAAGC	-	intergenic	CDC73,KCNT2	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	integument phenotype,-	Potential protein deficiency|Parathyroid carcinoma/adenoma|Parathyroid carcinoma.|Parathyroid carcinoma|Parathyroid cancer|Parathyroid adenoma.|Parathyroid adenoma |Hyperparathyroidism, primary.|Hyperparathyroidism, primary|Hyperparathyroidism, isolated|Hyperparathyroidism-jaw tumour syndrome.|Hyperparathyroidism-jaw tumour syndrome,-	ICGC,
chr5	180586598	180586598	T	C	intergenic	OR2V2,LOC102577426	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25837832	-	EOPC-DE|1|202|0.00495	-	-	-,-	Potential protein deficiency,-	COSMIC,ICGC,
chr16	4834324	4834324	G	A	intronic	SEPT12	unknown	SNV	-	-	-	0.2236	rs12446267	-	0.297125	-	0.181	-	-	ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488	-	-	reproductive system phenotype	Male infertility|Male infertility, association with	ICGC,
chr16	21574794	21574794	A	G	intergenic	SLC7A5P2,LOC101927814	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21741376	-	BRCA-UK|1|141|0.00709,BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr12	21219134	21219134	C	T	intronic	SLCO1B7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Schizophrenia	ICGC,
chr7	149199794	149199794	A	T	intergenic	ZNF746,ZNF767P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr19	43217909	43217909	C	T	intergenic	LIPE-AS1,PSG3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr13	82937583	82937583	G	A	intergenic	SPRY2,SLITRK1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,mortality/aging	Cleft lip ,Trichotillomania|Tourette syndrome|Obsessive-compulsive disorder |Attention deficit hyperactivity disorder 	ICGC,
chr16	30995174	30995174	A	G	exonic	SETD1A	nonsynonymous	SNV	0.002	1.0	-	-	-	-	-	-	-	COSM5635340	-	-	-	-	mortality/aging	-	COSMIC,
chr5	39066990	39066990	A	G	intronic	RICTOR	unknown	SNV	-	-	-	-	rs555363660	-	0.000199681	-	-	COSN26265259	-	PRAD-UK|1|140|0.00714	-	-	mortality/aging	-	COSMIC,ICGC,
chr7	145664064	145664064	G	A	intergenic	TPK1,CNTNAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	Thiamine pyrophosphokinase deficiency|Leigh-like disease|Colorectal cancer, increased risk, association with |Autism,Gilles de la Tourette syndrome|Intellectual disability  |Learning disability & speech problems|Mental retardation |Mental retardation, Pitt-Hopkins-like|Multiple congenital anomalies  |Seizures, neonatal |Speech delay  |Stuttering |Epileptic encephalopathy  |Epilepsy and schizophrenia|Autism|Autism spectrum disorder |Autism spectrum disorder, modifier of|Childhood apraxia of speech|Cortical dysplasia-focal epilepsy syndrome|Developmental and/or speech and/or behavioural problems|Developmental delay  |Developmental delay & dysmorphic features|Dyslexia 	ICGC,
chrX	39758346	39758346	G	A	intergenic	LINC01282,BCOR	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,mortality/aging	-,Microphthalmia with associated anomalies|Oculofaciocardiodental syndrome|Potential protein deficiency	ICGC,
chr5	30081691	30081691	C	A	intergenic	LOC101929681,CDH6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,renal/urinary system phenotype	-,-	ICGC,
chr11	39829198	39829198	C	A	intergenic	LOC101928536,LRRC4C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr2	368350	368350	C	T	intergenic	FAM150B,TMEM18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Obesity  	ICGC,
chrX	67906091	67906091	G	A	intronic	STARD8	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	-	ICGC,
chr10	109928447	109928447	T	A	intergenic	SORCS1,RNU6-53P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	other phenotype,-	Autism ,-	ICGC,
chr11	128423471	128423471	C	G	intronic	ETS1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	mortality/aging	Systemic lupus erythematosus, association with	ICGC,
chr6	133620886	133620896	ATAAAATAAAA	-	intronic	EYA4	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|2|67|0.02985	-	-	mortality/aging	Sensorineural hearing loss, nonsyndromic  |Sensorineural hearing loss, cardiac malformation & mental retardation|Sensorineural deafness|Late-onset deafness|Holoprosencephaly, middle interhemispheric variant|Hearing loss  |Dilated cardiomyopathy and sensorineural deafness	ICGC,
chr13	84444861	84444861	A	T	intergenic	NONE,SLITRK1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,Trichotillomania|Tourette syndrome|Obsessive-compulsive disorder |Attention deficit hyperactivity disorder 	ICGC,
chr18	67945524	67945524	A	-	intergenic	RTTN,SOCS6	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	PACA-AU|1|391|0.00256	-	-	mortality/aging,hematopoietic system phenotype	Polymicrogyria  ,-	ICGC,
chr18	40509011	40509011	-	GATATATA	intronic	RIT2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	-	ICGC,
chr4	46719321	46719321	A	T	intergenic	GABRA2,COX7B2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	integument phenotype,-	-,-	ICGC,
chr22	18877433	18877433	A	C	intergenic	GGT3P,DGCR6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Anxiety disorders, in 22q11.2 deletion syndrome	ICGC,
chr20	52952163	52952163	T	C	intergenic	PFDN4,DOK5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr4	118755212	118755212	T	G	intergenic	TRAM1L1,NDST3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,mortality/aging	-,-	ICGC,
chr5	56850743	56850743	T	G	intergenic	ACTBL2,LINCR-0003	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15103307	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chrX	87251432	87251432	A	T	intergenic	KLHL4,CPXCR1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	105507007	105507007	C	T	intergenic	RAB9BP1,LOC102467213	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr18	1732533	1732533	T	G	intergenic	LINC00470,METTL4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr15	46112235	46112235	A	G	intergenic	SQRDL,SEMA6D	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,immune system phenotype	-,Developmental language disorder 	ICGC,
chr2	162715052	162715052	C	T	intronic	SLC4A10	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1802669	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging	Schizophrenia  |Partial epilepsy and mental retardation|Mental retardation & muscular hypotonia|Mental retardation & generalised hypotonia|Epilepsy & mental retardation|Autism	COSMIC,COSMIC,ICGC,
chr8	113576479	113576479	C	T	intronic	CSMD3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	Schizophrenia  |Colorectal cancer 	ICGC,
chr13	63395256	63395256	A	T	intergenic	LINC00448,LINC00395	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17421974	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr16	364607	364607	T	A	exonic	AXIN1	nonsynonymous	SNV	0.0	1.0	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Breast cancer, non-BRCA1/BRCA2 related|Colorectal adenoma	ICGC,
chr12	128535120	128535120	A	G	intergenic	LINC00507,LOC100996679	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	ICGC,
chr8	23545406	23545406	C	T	intergenic	NKX3-1,NKX2-6	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2269977	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging,mortality/aging	Prostate cancer, association with,DiGeorge syndrome|Common arterial trunk	COSMIC,ICGC,
chr5	172110463	172110463	C	T	exonic	NEURL1B	stopgain	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-JP|1|585|0.00171	-	-	-	-	ICGC,
chr10	20163542	20163542	C	T	intronic	PLXDC2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	nervous system phenotype	Pancreatic cancer 	ICGC,
chr1	170810353	170810353	A	T	intergenic	PRRX1,MROH9	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8649737	-	OV-AU|1|93|0.01075	-	-	mortality/aging,-	Atrial fibrillation, increased susceptibility|Agnathia-otocephaly,-	COSMIC,COSMIC,ICGC,
chr13	52069377	52069377	C	T	intergenic	INTS6-AS1,MIR4703	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr4	74466227	74466227	C	T	intronic	RASSF6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr4	173928532	173928532	A	-	intronic	GALNTL6	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-	-	ICGC,
chr21	20709552	20709552	G	A	intergenic	LOC101927797,LINC00320	unknown	SNV	-	-	-	3.235e-05	-	-	-	-	-	COSN23326503	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	COSMIC,ICGC,
chr6	119168584	119168584	-	CA	intronic	MCM9	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging	Autism spectrum disorder	ICGC,
chr3	28111138	28111138	T	G	intergenic	EOMES,CMC1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Altered p53 binding|Microcephaly with polymicrogyria,-	ICGC,
chr5	40530278	40530278	G	A	intergenic	LINC00603,PTGER4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,integument phenotype	-,Crohn's disease, association with 	ICGC,
chr7	10431294	10431294	T	C	intergenic	PER4,NDUFA4	unknown	SNV	-	-	-	3.231e-05	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-,-	-,Complex I deficiency|Cytochrome c oxidase deficiency	ICGC,
chr16	26753015	26753015	C	T	intergenic	HS3ST4,C16orf82	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	132737171	132737171	-	T	intergenic	NONE,PCDH10	unknown	insertion	-	-	-	-	-	-	-	-	-	COSN14694598	-	-	-	-	-,mortality/aging	-,Schizophrenia|Potential protein deficiency	COSMIC,
chr12	84960156	84960156	A	T	intergenic	TMTC2,SLC6A15	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|2|301|0.00664	-	-	-,reproductive system phenotype	-,Increased maximal 3H proline uptake	ICGC,
chr19	43631545	43631545	-	A	intergenic	PSG2,PSG5	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	OV-AU|1|93|0.01075,MALY-DE|1|241|0.00415	-	-	-,-	Potential protein deficiency,-	ICGC,
chr16	23722653	23722653	T	A	intronic	ERN2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	immune system phenotype	-	ICGC,
chr16	52204850	52204850	G	A	intergenic	LOC102467079,TOX3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Tumour subtype, in BRCA1 mutation carriers, association with.|Breast cancer, association with	ICGC,
chr4	68109039	68109039	C	T	intergenic	EPHA5-AS1,LOC101927237	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	222602932	222602932	-	TATATATATATATATATAT	intergenic	DUSP10,HHIPL2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	hematopoietic system phenotype,-	-,Potential protein deficiency	ICGC,
chr3	76504411	76504411	G	A	intergenic	ZNF717,ROBO2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN14788926	-	LICA-FR|1|252|0.00397	-	-	-,mortality/aging	Potential protein deficiency,Autism spectrum disorder  |Urinary tract anomalies|Vesicoureteral reflux	COSMIC,ICGC,
chr12	42886986	42886986	T	C	intronic	PRICKLE1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5943560	-	LIRI-JP|1|258|0.00388	-	-	mortality/aging	Progressive myoclonus epilepsy-ataxia syndrome|Neural tube defects|Myoclonus epilepsy |Cleft palate	COSMIC,ICGC,
chr4	105411872	105411872	C	T	intronic	CXXC4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19671926	-	COCA-CN|1|321|0.00312	-	-	-	-	COSMIC,ICGC,
chr12	18780329	18780329	T	C	intronic	PIK3C2G	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	Diabetes, type 2, association with	ICGC,
chr11	99113206	99113206	-	T	intronic	CNTN5	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	behavior/neurological phenotype	-	ICGC,
chrX	95183670	95183670	G	A	intergenic	NONE,LOC643486	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2370917	-	LIRI-JP|3|258|0.01163	-	-	-,-	-,-	COSMIC,COSMIC,ICGC,
chr6	56074960	56074960	G	A	intronic	COL21A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|2|183|0.01093	-	-	-	-	ICGC,
chr9	76730135	76730135	C	G	ncRNA_intronic	MIR6130	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	-	ICGC,
chr20	53275172	53275172	C	T	intergenic	DOK5,LINC01441	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr14	40141760	40141760	C	T	intergenic	FBXO33,LOC644919	unknown	SNV	-	-	-	3.233e-05	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|2|183|0.01093	-	-	-,-	-,-	ICGC,
chr11	7158698	7158698	C	T	intergenic	RBMXL2,SYT9	unknown	SNV	-	-	-	0.0001	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	Impaired spermatogenesis ,-	ICGC,
chr11	118949520	118949520	G	T	exonic	VPS11	unknown	SNV	-	0.02	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	Schizophrenia  	ICGC,
chr4	64917292	64917292	T	C	intergenic	LPHN3-AS1,TECRL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	ICGC,
chr5	137489369	137489369	T	C	intronic	BRD8	unknown	SNV	-	-	-	0.0017	-	-	-	-	-	COSN7876844	-	PACA-AU|1|391|0.00256	-	-	mortality/aging	-	COSMIC,ICGC,
chr6	36973077	36973077	G	A	upstream	FGD2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	reproductive system phenotype	-	ICGC,
chrX	79945521	79945521	T	A	exonic	BRWD3	nonsynonymous	SNV	0.0	1.0	-	-	-	-	-	-	-	COSM5673888	-	-	-	-	craniofacial phenotype	Rolandic epilepsy |Potential protein deficiency|Mental retardation, X-linked|Intellectual disability & macrocephaly	COSMIC,
chr1	236581811	236581811	T	C	intronic	EDARADD	unknown	SNV	-	-	-	0.0002	-	-	-	-	-	COSN23976863	-	EOPC-DE|1|202|0.00495,LAML-KR|1|205|0.00488	-	-	integument phenotype	Tooth agenesis  |Oligodontia |Ectodermal dysplasia, hypohidrotic|Ectodermal dysplasia|Anhidrosis, partial	COSMIC,COSMIC,ICGC,
chr10	57846322	57846322	G	T	intergenic	MTRNR2L5,ZWINT	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15854097	-	PACA-CA|1|268|0.00373	-	-	-,-	-,-	COSMIC,ICGC,
chr2	228924611	228924611	C	T	intronic	SPHKAP	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr18	61607932	61607932	G	A	intergenic	SERPINB10,HMSD	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Splice variant	ICGC,
chr6	8269184	8269184	G	A	intergenic	EEF1E1-BLOC1S5,SLC35B3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr14	30606629	30606629	A	G	intergenic	PRKD1,G2E3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21051570	-	BRCA-UK|1|141|0.00709,BRCA-EU|1|569|0.00176	-	-	mortality/aging,mortality/aging	Autism spectrum disorder|Mental retardation and microcephaly|Obesity ,-	COSMIC,ICGC,
chrX	23027844	23027844	G	A	ncRNA_intronic	PTCHD1-AS	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr7	131499704	131499704	A	G	intergenic	PODXL,LOC101928782	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging,-	Focal and segmental glomerulosclerosis,-	ICGC,
chr1	191840116	191840116	A	C	intergenic	LOC440704,RGS18	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,no phenotypic analysis	-,Potential protein deficiency	ICGC,
chr22	26859565	26859565	G	A	intronic	HPS4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN40317	-	-	-	-	integument phenotype	Schizophrenia, susceptibility to ?|Potential protein deficiency|Hermansky-Pudlak syndrome	COSMIC,
chr11	5137061	5137061	G	A	intergenic	OR52E2,OR52A5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	-,-	ICGC,
chr3	103128309	103128309	T	C	intergenic	ZPLD1,MIR548A3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16007346	-	PACA-CA|1|268|0.00373	-	-	-,-	Cerebral cavernous malformations,-	COSMIC,ICGC,
chr2	229184892	229184892	G	A	intergenic	SPHKAP,PID1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Anorectal malformation	ICGC,
chr5	98211789	98211789	G	A	intronic	CHD1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Autism	ICGC,
chr10	78509876	78509876	G	A	intergenic	C10orf11,KCNMA1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,mortality/aging	Albinism, autosomal recessive|Mental retardation ,Hypertension, association with |Generalized epilepsy and paroxysmal dyskinesia|Autism	ICGC,
chr8	89956894	89956894	C	G	intergenic	MMP16,RIPK2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging,hematopoietic system phenotype	-,Autism spectrum disorder	ICGC,
chr12	128055068	128055068	A	G	intergenic	LOC101927616,LOC101927637	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN7315682	-	PACA-AU|1|391|0.00256	-	-	-,-	-,-	COSMIC,ICGC,
chr6	43143462	43143462	T	C	exonic	SRF	nonsynonymous	SNV	0.001	0.951	-	-	-	-	-	-	-	COSM6790176	-	-	-	-	mortality/aging	-	COSMIC,
chr8	50446598	50446598	C	T	intergenic	C8orf22,SNTG1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Autism|Intellectual disability, cleft palate, hearing loss and dysmorphisms	ICGC,
chr20	41032598	41032598	C	A	intronic	PTPRT	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN1248981	-	LINC-JP|1|394|0.00254	-	-	homeostasis/metabolism phenotype	Intellectual disability, behavioural problems, microcephaly & cardiac defect|Attention deficit hyperactivity disorder 	COSMIC,ICGC,
chr16	25828295	25828295	A	T	intronic	HS3ST4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN22956890	-	PAEN-IT|1|37|0.02703	-	-	-	-	COSMIC,COSMIC,ICGC,
chrX	54956215	54956215	G	T	exonic	TRO	nonsynonymous	SNV	0.001	1.0	-	-	-	-	-	-	-	COSM4949911	-	LICA-FR|1|252|0.00397	-	-	mortality/aging	-	COSMIC,ICGC,
chr10	56235999	56235999	A	G	intronic	PCDH15	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8712788	-	OV-AU|1|93|0.01075	-	-	vision/eye phenotype	Usher syndrome II|Usher syndrome 1f|Usher syndrome 1|Lipid levels in hyperlipidaemia, association with|Hearing loss, non-syndromic|Deafness, non-syndromic, autosomal recessive|Deafness, non-syndromic |Deafness  	COSMIC,ICGC,
chr16	86860528	86860528	G	A	intergenic	FOXL1,LOC101928708	unknown	SNV	-	-	-	6.456e-05	-	-	-	-	-	COSN7157791	-	PACA-AU|1|391|0.00256	-	-	mortality/aging,-	Hypoplastic left heart syndrome,-	COSMIC,ICGC,
chr10	17379431	17379431	T	C	intronic	ST8SIA6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|2|301|0.00664	-	-	-	-	ICGC,
chr22	18609701	18609701	A	G	exonic	TUBA8	nonsynonymous	SNV	0.0	0.928	-	-	-	-	-	-	-	COSM6358201	-	PRAD-FR|1|25|0.04000	-	-	-	Polymicrogyria with optic nerve hypoplasia	COSMIC,ICGC,
chr11	78261632	78261632	G	A	ncRNA_intronic	LOC101928896	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr3	21860007	21860007	T	A	intergenic	ZNF385D,ZNF385D-AS2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr2	136972414	136972415	CT	-	intergenic	CXCR4,THSD7B	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	WHIM syndrome,Autism spectrum disorder	ICGC,
chr11	91519661	91519661	C	T	intergenic	DISC1FP1,FAT3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,vision/eye phenotype	-,Autism spectrum disorder	ICGC,
chr6	107451988	107451988	G	A	intergenic	BEND3,PDSS2	unknown	SNV	-	-	-	6.557e-05	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538,MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Leigh syndrome with nephropathy and COQ10 deficiency	ICGC,
chr2	127951372	127951372	G	A	exonic	CYP27C1	nonsynonymous	SNV	0.0	1.0	4.066e-06	-	rs775249425	8.25e-06	-	-	-	-	SKCM|1|368|0.00272	-	-	-	-	-	TCGA,
chr6	169013185	169013185	G	A	intronic	SMOC2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Dental developmental defects|Oligodontia 	ICGC,
chr10	134447005	134447005	G	A	intronic	INPP5A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	-	ICGC,
chr15	41406262	41406262	C	T	intronic	INO80	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-	Schizophrenia	ICGC,
chr20	41953321	41953321	G	A	intergenic	PTPRT,SRSF6	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	homeostasis/metabolism phenotype,-	Intellectual disability, behavioural problems, microcephaly & cardiac defect|Attention deficit hyperactivity disorder ,-	ICGC,
chr20	11652924	11652924	T	C	intergenic	LOC339593,LINC00687	unknown	SNV	-	-	-	0.1612	rs1513595	-	0.198283	-	0.210	-	-	LAML-KR|1|205|0.00488	-	-	-,-	-,-	ICGC,
chr8	18718658	18718658	G	A	intronic	PSD3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	CMDI-UK|1|136|0.00735	-	-	-	-	ICGC,
chr6	129082029	129082029	C	T	intergenic	PTPRK,LAMA2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	Autism,Muscular dystrophy, merosin deficient|Myopathy with sarcotubular proliferation|Schizophrenia  |Tuberculoid leprosy, association with |Muscular dystrophy, limb girdle|Muscular dystrophy, congenital 1A.|Muscular dystrophy, congenital 1A, atypical|Muscular dystrophy, congenital 1A|Laminin alpha 2 chain deficiency, partial|Cardiomyopathy, dilated, type 1A	ICGC,
chr2	15811120	15811120	C	T	intergenic	DDX1,LOC101926966	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr1	215799264	215799264	T	C	intronic	USH2A	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8637459	-	LUSC-KR|2|170|0.01176	-	-	vision/eye phenotype	Retinitis pigmentosa?|Retinitis pigmentosa.|Sensorineural hearing loss, nonsyndromic  |Usher syndrome  |Usher syndrome 1  |Usher syndrome 2|Usher syndrome 2a|Usher syndrome 3 |Retinitis pigmentosa, recessive, no hearing loss|Retinitis pigmentosa, autosomal recessive.|Retinitis pigmentosa, autosomal recessive |Retinitis pigmentosa|Retinal degeneration|Hearing loss, early-childhood|Deafness, non-syndromic |Deafness  |Autism spectrum disorder|Autism	COSMIC,ICGC,
chr7	118199664	118199664	G	A	intergenic	ANKRD7,KCND2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,integument phenotype	-,Epilepsy, temporal lobe	ICGC,
chr5	45837466	45837466	G	T	intergenic	HCN1,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	integument phenotype,-	Idiopathic epilepsy, generalised ,-	ICGC,
chr7	46488508	46488508	C	T	intergenic	IGFBP3,TNS3	unknown	SNV	-	-	-	0.1858	rs35227453	-	0.292931	-	0.333	-	-	SKCA-BR|1|100|0.01000	-	-	behavior/neurological phenotype,mortality/aging	Prostate cancer, increased risk|Plasma IGFBP-3 levels, association with|Pancreatic cancer, clinical outcome, association with|Lung cancer, increased risk, association with|Increased IGFBP-3 levels, association with|IGFBP-3 levels|Higher promoter activity, association with|Drug response, association with|Decreased IGFBP-3 levels, association with|Colorectal cancer, association with,Renal agenesis, pulmonary infections & growth/developmental delay	ICGC,
chr13	57059430	57059430	G	A	intergenic	MIR5007,PRR20A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr2	119617541	119617541	C	T	intergenic	EN1,MARCO	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,mortality/aging	-,-	ICGC,
chr1	181546868	181546868	G	T	intronic	CACNA1E	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19053755	-	CLLE-ES|1|510|0.00196	-	-	behavior/neurological phenotype	Autism|Diabetes, type 2, association with	COSMIC,ICGC,
chr11	64418966	64418966	C	T	exonic	NRXN2	nonsynonymous	SNV	1.0	0.001	-	-	-	-	-	-	-	COSM3869853	SKCM|2|368|0.00543	SKCM-US|1|335|0.00299	-	-	mortality/aging	Autism spectrum disorder  	COSMIC,TCGA,ICGC,
chr18	49964284	49964284	G	A	intronic	DCC	unknown	SNV	-	-	-	0.3221	rs6508143	-	0.380791	-	0.290	-	-	ESAD-UK|1|301|0.00332	-	-	mortality/aging	Altered p53 transactivation|Colorectal cancer, risk, association with |Mirror movements, congenital	ICGC,
chr16	51139870	51139870	C	T	intergenic	LOC101927334,SALL1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21966471	-	BRCA-UK|1|141|0.00709,BRCA-EU|1|569|0.00176	-	-	-,mortality/aging	-,Townes-Brocks syndrome|Renal hypodysplasia|Multiple congenital anomalies, CNS defects, cortical blindness, and absence of psychomotor development|Lenz microphthalmia syndrome|Goldenhar syndrome 	COSMIC,ICGC,
chr3	64580399	64580399	A	C	intronic	ADAMTS9	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26072461	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype	-	COSMIC,ICGC,
chr2	139781736	139781736	G	A	intergenic	YY1P2,LRP1B	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Schizophrenia   	ICGC,
chr8	121356760	121356760	A	C	intronic	COL14A1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	integument phenotype	Keratoderma, palmoplantar, punctate	ICGC,
chr16	27547347	27547347	C	T	intronic	GTF3C1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging	-	ICGC,
chr9	35062342	35062342	C	G	exonic	VCP	nonsynonymous	SNV	0.001	1.0	-	-	-	-	-	-	-	-	HNSC|1|512|0.00195	-	-	-	mortality/aging	Spastic paraplegia|Parkinson disease in IBMPFD|Myopathy, rimmed vacuolar|Myopathy and dementia.|IBMPFD.|IBMPFD / Amyotrophic lateral sclerosis|IBMPFD |Hereditary spastic paraplegia|Alzheimer disease |Amyotrophic lateral sclerosis|Autism|Distal myopathy|Facioscapulohumeral muscular dystrophy-like phenotype	TCGA,
chr16	7095508	7095508	G	A	intronic	RBFOX1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Muscular and feet abnormalities|Mental retardation|Epilepsy, rolandic  |Epilepsy|Developmental delay, facial dysmorphism  |Developmental delay and transposition of the great arteries|Developmental delay and diplegia|Developmental delay and craniosynostosis|Developmental delay  |Cardiac defects|Cardiac abnormalities, micrognathia and scoliosis|Autism spectrum disorder|Autism|Attention deficit hyperactivity disorder 	ICGC,
chr12	98734015	98734015	G	A	intergenic	MIR4303,SLC9A7P1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,-	-,-	ICGC,
chr12	6017800	6017800	C	T	intronic	ANO2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	taste/olfaction phenotype	-	ICGC,
chr10	16446505	16446505	A	T	intergenic	FAM188A,PTER	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	Non-small-cell lung cancer, increased risk, association with,-	ICGC,
chr6	72613015	72613015	C	T	intronic	RIMS1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23802449	-	ORCA-IN|1|178|0.00562	-	-	mortality/aging	Autism|Cone-rod dystrophy|Retinitis pigmentosa, autosomal dominant	COSMIC,ICGC,
chr10	54221503	54221503	C	A	ncRNA_intronic	LOC101928687	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19119749	-	CLLE-ES|1|510|0.00196	-	-	-	-	COSMIC,ICGC,
chr10	42764070	42764070	C	G	intergenic	NONE,LOC441666	unknown	SNV	-	-	-	-	rs4258326	-	-	-	-	-	-	LAML-KR|3|205|0.01463	-	-	-,-	-,-	ICGC,
chr3	39121227	39121227	C	T	exonic	WDR48	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM4630861	-	-	-	-	-	Spastic paraplegia 60	COSMIC,
chr12	115448023	115448023	A	T	intergenic	TBX3,MED13L	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16716937	-	PAEN-IT|1|37|0.02703	-	-	integument phenotype,-	Ulnar-mammary syndrome,Intellectual disability, nonsyndromic, no cardiac involvement|Hypotonia, learning difficulties & perimembranous ventricular septal defect|Hypotonia, intellectual disability, conotruncal heart defect & facial anomalies|Congenital heart defect|Colorectal cancer, increased risk, association with |Autism	COSMIC,COSMIC,ICGC,
chr9	40646727	40646727	G	A	intergenic	FAM74A1,SPATA31A3	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5244193	-	-	-	-	-,-	-,-	COSMIC,
chr13	57811553	57811553	A	G	intergenic	PRR20A,PCDH17	unknown	SNV	-	-	-	6.485e-05	rs560870943	-	0.00119808	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr16	30964778	30964778	C	T	exonic	ORAI3	synonymous	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr11	84260695	84260695	T	C	intronic	DLG2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype	Schizophrenia and epilepsy|Myopathy  |Intellectual disability, autism and epilepsy|Hypochondriasis|Dysmorphic features & speech delay|Developmental delay and dysmorphic features|Developmental delay  	ICGC,
chr8	47047710	47047710	C	A	intergenic	NONE,LINC00293	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-,-	-,-	ICGC,
chr7	14353582	14353582	C	G	intronic	DGKB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176,BRCA-FR|1|72|0.01389	-	-	behavior/neurological phenotype	-	ICGC,
chr13	111264512	111264512	A	G	intergenic	RAB20,CARKD	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	-,-	ICGC,
chr2	86380522	86380522	C	A	intronic	IMMT	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN2476271	-	-	-	-	-	Glaucoma, primary open angle 	COSMIC,
chr1	194015123	194015123	A	T	intergenic	CDC73,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	integument phenotype,-	Potential protein deficiency|Parathyroid carcinoma/adenoma|Parathyroid carcinoma.|Parathyroid carcinoma|Parathyroid cancer|Parathyroid adenoma.|Parathyroid adenoma |Hyperparathyroidism, primary.|Hyperparathyroidism, primary|Hyperparathyroidism, isolated|Hyperparathyroidism-jaw tumour syndrome.|Hyperparathyroidism-jaw tumour syndrome,-	ICGC,
chr2	154079340	154079340	G	A	intergenic	ARL6IP6,RPRM	unknown	SNV	-	-	-	3.228e-05	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	Autism spectrum disorder|Bardet-Biedl like features,-	ICGC,
chr4	8837031	8837031	G	A	intergenic	CPZ,HMX1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	Autism,Oculo-auricular syndrome	ICGC,
chr14	93356845	93356845	C	A	intergenic	GOLGA5,CHGA	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5393187	-	LIRI-JP|1|258|0.00388	-	-	-,mortality/aging	Colorectal cancer, increased risk, association with,Reduced diastolic blood pressure, association with|Increased plasma glucose levels|Increased glucose uptake inhibition|Increased functional potency|Hypertension, association with|Cardiometabolic risk traits, association with|Altered processing by plasmin	COSMIC,ICGC,
chr3	89432915	89432915	C	T	intronic	EPHA3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Oligozoospermia|Schizophrenia    |Sertoli-cell-only syndrome	ICGC,
chr11	32316318	32316318	C	T	intergenic	RCN1,WT1	unknown	SNV	-	-	-	3.232e-05	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,mortality/aging	-,Nephrotic syndrome, steroid-resistant|Nephrotic syndrome, steroid resistant|Nephrotic syndrome|Nephrotic proteinuria|Nephrotic syndrome.|Renal dysfunction & renal blastema|Ureteropelvic junction obstruction      |Wilms tumour|Wilms tumour and nephropathy|Wilms tumour, adult|Wilms tumour.|Membranoproliferative glomerulonephritis|Hypospadias|46, XY disorder of sex development|46,XY disorder of sex development |46,XY disorder of sex development with bilateral gonadoblastoma|Denys-Drash syndrome|Denys-Drash syndrome, incomplete|Denys-Drash syndrome, incomplete.|Diffuse mesangial sclerosis|Early-onset nephrotic syndrome|Focal segmental glomerulosclerosis|Focal segmental glomerulosclerosis in WAGR syndrome.|Frasier syndrome	ICGC,
chr3	153114425	153114425	G	T	intergenic	RAP2B,C3orf79	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr2	79227360	79227360	C	T	intergenic	LOC101927967,REG3G	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	UTCA-FR|1|20|0.05000	-	-	-,-	-,-	ICGC,
chr6	35800297	35800297	A	G	downstream	SRPK1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	-	-	ICGC,
chr18	55269699	55269699	T	C	exonic	NARS	nonsynonymous	SNV	0.01	0.763	0.0002	0.0003	rs182629969	0.0002	0.000199681	-	-	COSM5751027	-	-	-	-	-	-	COSMIC,
chr15	26373742	26373742	C	T	ncRNA_intronic	LINC00929	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr5	160376634	160376634	T	-	intergenic	LOC285629,GABRB2	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,skeleton phenotype	-,-	ICGC,
chr3	62518605	62518605	G	C	exonic	CADPS	nonsynonymous	SNV	0.0	1.0	-	-	-	-	-	-	-	-	BLCA|1|396|0.00253	-	-	-	mortality/aging	-	TCGA,
chr13	49783923	49783923	G	C	downstream	FNDC3A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	RECA-EU|1|422|0.00237	-	-	reproductive system phenotype	-	ICGC,
chr1	28662328	28662328	C	T	UTR3	MED18	unknown	SNV	-	-	-	9.942e-05	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	hematopoietic system phenotype	-	ICGC,
chr5	136019039	136019039	C	T	intergenic	TRPC7,SPOCK1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	vision/eye phenotype,normal phenotype	-,Developmental delay & microcephaly	ICGC,
chr8	73077104	73077104	C	T	intergenic	TRPA1,LOC392232	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN19554305	-	-	-	-	integument phenotype,-	Paradoxical heat sensation, association with |Episodic pain syndrome,-	COSMIC,
chr4	28210768	28210768	G	A	intergenic	STIM2,MIR4275	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PACA-CA|1|268|0.00373	-	-	integument phenotype,-	-,-	ICGC,
chr2	83690112	83690112	T	G	intergenic	LOC1720,FUNDC2P2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr2	81819663	81819663	T	C	intergenic	LOC100507201,LOC1720	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23636414	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr7	25015703	25015703	A	G	intronic	OSBPL3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-	High HDL cholesterol	ICGC,
chr2	168236039	168236039	C	T	intergenic	XIRP2,B3GALT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	integument phenotype,-	Schizophrenia,-	ICGC,
chr15	38853882	38853882	C	T	intronic	RASGRP1	unknown	SNV	-	-	-	6.46e-05	-	-	-	-	-	COSN27033626	-	ESAD-UK|1|301|0.00332	-	-	hematopoietic system phenotype	-	COSMIC,ICGC,
chr15	61164494	61164494	A	G	intronic	RORA	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-UK|1|140|0.00714	-	-	integument phenotype	Obesity	ICGC,
chr5	23403028	23403028	A	G	intergenic	CDH12,PRDM9	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,reproductive system phenotype	Lung cancer, susceptibility to, association with,Altered meiotic recombination hotspot usage|Azoospermia by meiotic arrest, association with |Azoospermia, non-obstructive 	ICGC,
chr3	99135213	99135213	T	C	intergenic	DCBLD2,MIR548G	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	Anorectal malformation,-	ICGC,
chr3	67772	67772	C	T	intergenic	LOC102723448,CHL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,behavior/neurological phenotype	-,Tetralogy of Fallot|Schizophrenia, association with|Potential protein deficiency|Mental retardation & microcephaly |Mental retardation|Learning difficulties, microcephaly and growth retardation|Intellectual disability and epilepsy	ICGC,
chr13	112751508	112751508	C	T	ncRNA_intronic	LINC00403	unknown	SNV	-	-	-	6.459e-05	-	-	-	-	-	COSN8126373	-	PACA-CA|1|268|0.00373	-	-	-	-	COSMIC,ICGC,
chr4	93430633	93430633	G	A	intronic	GRID2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Cerebellar ataxia & tonic upgaze|Cerebellar ataxia and atrophy|Schizophrenia|Spastic paraplegia, complicated	ICGC,
chr6	55245322	55245322	C	T	intronic	GFRAL	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr6	78276207	78276207	C	T	intergenic	HTR1B,MEI4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	skeleton phenotype,-	Suicidal ideation, in major depression, association with|Receptor variant|Alcohol dependence, association with|Alcohol and drug abuse, association with|Aggressive behaviour, association with,-	ICGC,
chr14	28635929	28635929	G	A	intergenic	LINC00645,FOXG1	unknown	SNV	-	-	-	0.0043	rs149202160	-	0.00359425	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,integument phenotype	-,West syndrome |Rett-like syndrome|Rett syndrome|Refractory epilepsy & intellectual impairment|Microcephaly, mental retardation & thin genu of corpus callosum|Mental retardation, speech impairment & epilepsy|Mental retardation & speech impairment|Mental retardation & postnatal microcephaly|Mental retardation & callosum abnormalities|Mental retardation|Infantile spasms|Hemifacial microsomia|Generalized dystonia, athetosis and parkinsonism|Developmental delay, microcephaly & hypoplasia of the corpus callosum|Developmental delay, hypotonia, microcephaly & infantile spasms|Developmental delay & slow head growth|Agenesis of corpus callosum	ICGC,
chr7	151926924	151926924	T	G	intronic	KMT2C	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN8516017	-	LUSC-KR|2|170|0.01176	-	-	-	-	COSMIC,ICGC,
chr10	109444320	109444320	G	T	intergenic	SORCS1,RNU6-53P	unknown	SNV	-	-	-	0.0703	rs6584822	-	0.0810703	-	0.109	-	-	ESAD-UK|1|301|0.00332	-	-	other phenotype,-	Autism ,-	ICGC,
chr2	61105522	61105522	C	A	ncRNA_intronic	LINC01185	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	-	ICGC,
chrX	31640851	31640851	A	T	intronic	DMD	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging	Muscular dystrophy, Duchenne & Charcot-Marie-Tooth disease|Muscular dystrophy, Duchenne & autism|Muscular dystrophy, Duchenne|Muscular dystrophy, Becker.|Muscular dystrophy, Becker with cognitive impairment|Muscular dystrophy, Becker|Muscular dystrophy, Duchenne-like|Muscular dystrophy, Duchenne, epilepsy, macroglossia and mental retardation|Muscular dystrophy, Duchenne.|Muscular dystrophy, Duchenne/Becker|Muscular dystrophy, intermediate|Myopathy  |Potential protein deficiency|Schizophrenia|Muscular dystrophy, atypical|Muscular dystrophy & intellectual disability|Muscular dystrophy|Autism & neuromotor delay|Autism spectrum disorder|Behavioural issues|Cardiomyopathy, dilated|Cardiomyopathy, dilated, X-linked|Cardiomyopathy, dilated.|Dystrophinopathy|Elevated creatine kinase level|Mild Becker muscular dystrophy|Mental retardation, X-linked|Isolated cardiomyopathy|Increased serum creatine kinase levels|Global developmental delay/intellectual disability|Exertional myalgia, muscle stiffness & myoglobinuria	ICGC,
chr12	129360597	129360597	G	A	exonic	GLT1D1	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM4930015	-	LIHC-US|1|189|0.00529	-	-	-	-	COSMIC,COSMIC,ICGC,
chr19	13779399	13779399	G	A	intergenic	CACNA1A,CCDC130	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	integument phenotype,-	Hemiplegic migraine with cerebellar signs|Hemiplegic migraine, cerebellar dysfunction & cognitive decline|Hemiplegic migraine, coma, cerebellar atrophy|Hemiplegic migraine, coma, cerebellar atrophy.|Hemiplegic migraine, progressive cerebellar ataxia|Hemiplegic migraine/alternating hemiplegia of childhood|Hyperinsulism ?|Ischemic stroke|Mental retardation & epilepsy with infantile spasms|Migraine.|Nystagmus and late-onset ataxia|Paroxysmal head tremor, adult-onset|Progressive cerebellar ataxia|Reduced function   |Spinocerebellar ataxia 6|Hemiplegic migraine with acute striatal necrosis.|Hemiplegic migraine type 1|Altered function|Ataxia, mental retardation and dyskinesia|Benign paroxysmal torticollis of infancy.|Cerebellar ataxia  |Cerebellar ataxia.|Cerebellar atrophy, early-onset|Epilepsy, idiopathic|Episodic ataxia|Episodic ataxia 2|Episodic seizures, ataxia, and migraine with motor regression|Head tremor|Hemiconvulsion-hemiplegia-epilepsy syndrome|Hemiplegic migraine|Hemiplegic migraine and ataxia|Hemiplegic migraine and episodic ataxia 2,-	ICGC,
chrX	80699456	80699456	G	A	intergenic	SH3BGRL,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21135224	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr4	179747556	179747556	G	A	intergenic	LINC01098,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr16	52572905	52572905	C	T	intronic	TOX3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Tumour subtype, in BRCA1 mutation carriers, association with.|Breast cancer, association with	ICGC,
chr5	15356227	15356227	G	A	intergenic	LOC101929454,FBXL7	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-,-	-,-	ICGC,
chr3	95767438	95767438	C	T	intergenic	MTHFD2P1,MIR8060	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493,MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chrX	141157910	141157910	G	A	intergenic	MAGEC1,MAGEC2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	Prostate cancer, predisposition to,-	ICGC,
chr12	11366535	11366535	G	T	intergenic	TAS2R42,PRB3	unknown	SNV	-	-	-	0.9001	rs1097968	-	-	-	-	-	-	LAML-KR|1|205|0.00488	-	-	-,-	-,Proline-rich protein PRB3 deficiency	ICGC,
chr10	67833699	67833699	C	T	intronic	CTNNA3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	Tourette syndrome |Sinus venosus atrial septal defect|Neural tube defects|Cervical artery dissection|Autism spectrum disorder |Attention deficit hyperactivity disorder |Arrhythmogenic right ventricular cardiomyopathy|Alzheimer disease, increased risk, association with |Adenocarcinoma	ICGC,
chr11	28428584	28428584	C	T	intergenic	METTL15,MIR8068	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chr9	10444944	10444944	G	T	intronic	PTPRD	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6372776	-	LIRI-JP|1|258|0.00388	-	-	integument phenotype	Restless legs syndrome, association with|Ewing sarcoma	COSMIC,ICGC,
chr10	9935583	9935583	T	G	intergenic	LOC101928272,LOC101928298	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24889006	-	PBCA-DE|1|499|0.00200	-	-	-,-	-,-	COSMIC,ICGC,
chr3	195225632	195225632	G	T	intergenic	MIR5692C1,PPP1R2	unknown	SNV	-	-	-	0.0001	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr11	94256661	94256661	T	A	intronic	C11orf97	unknown	SNV	-	-	-	0.2906	rs560190	-	0.251997	-	0.181	-	-	ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488	-	-	-	-	ICGC,
chrX	120495400	120495400	C	T	intergenic	GLUD2,GRIA3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,integument phenotype	Parkinson disease, earlier onset, association with,Mental retardation, X-linked|Intellectual disability, X-linked with facial dysmorphism|Intellectual disability, X-linked|Autism spectrum disorder	ICGC,
chrX	33754882	33754882	T	C	intergenic	DMD,FAM47A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Muscular dystrophy, Duchenne & Charcot-Marie-Tooth disease|Muscular dystrophy, Duchenne & autism|Muscular dystrophy, Duchenne|Muscular dystrophy, Becker.|Muscular dystrophy, Becker with cognitive impairment|Muscular dystrophy, Becker|Muscular dystrophy, Duchenne-like|Muscular dystrophy, Duchenne, epilepsy, macroglossia and mental retardation|Muscular dystrophy, Duchenne.|Muscular dystrophy, Duchenne/Becker|Muscular dystrophy, intermediate|Myopathy  |Potential protein deficiency|Schizophrenia|Muscular dystrophy, atypical|Muscular dystrophy & intellectual disability|Muscular dystrophy|Autism & neuromotor delay|Autism spectrum disorder|Behavioural issues|Cardiomyopathy, dilated|Cardiomyopathy, dilated, X-linked|Cardiomyopathy, dilated.|Dystrophinopathy|Elevated creatine kinase level|Mild Becker muscular dystrophy|Mental retardation, X-linked|Isolated cardiomyopathy|Increased serum creatine kinase levels|Global developmental delay/intellectual disability|Exertional myalgia, muscle stiffness & myoglobinuria,-	ICGC,
chr8	8369248	8369248	C	T	intergenic	SGK223,CLDN23	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN16107545	-	PACA-CA|1|268|0.00373	-	-	-,-	Potential protein deficiency,-	COSMIC,ICGC,
chr2	124438353	124438353	T	-	intergenic	TSN,CNTNAP5	unknown	deletion	-	-	-	3.245e-05	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	hematopoietic system phenotype,-	-,Autism	ICGC,
chr9	76066769	76066769	C	T	intergenic	ANXA1,MIR6130	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	mortality/aging,-	Autism spectrum disorder,-	ICGC,
chr8	143200345	143200345	T	A	intergenic	MROH5,MIR4472-1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr7	67946416	67946416	G	A	intergenic	LOC102723427,LOC100507468	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr7	53281451	53281451	T	G	intergenic	POM121L12,LINC01446	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	117818746	117818746	A	G	ncRNA_intronic	LOC101927280	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr2	77414701	77414701	G	T	intronic	LRRTM4	unknown	SNV	-	-	-	-	rs560188284	-	0.000199681	-	-	-	-	LUSC-KR|1|170|0.00588	-	-	-	-	ICGC,
chr12	11274668	11274668	T	C	ncRNA_intronic	PRH1-PRR4	unknown	SNV	-	-	-	3.562e-05	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-	-	ICGC,
chr6	83075031	83075031	C	A	exonic	TPBG	nonsynonymous	SNV	0.696	0.007	-	-	-	-	-	-	-	COSM1559757	-	-	-	-	mortality/aging	-	COSMIC,
chr6	110077878	110077878	T	G	intronic	FIG4	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26092356	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype	Amyotrophic lateral sclerosis |Charcot-Marie-Tooth disease 4J|Epilepsy with polymicrogyria|Primary lateral sclerosis, adult, 1|Yunis-Varon syndrome	COSMIC,ICGC,
chr8	105720807	105720807	G	A	intergenic	LRP12,ZFPM2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,integument phenotype	-,Atrial septal defect & gonadal dysgenesis|Diaphragmatic hernia, congenital|Double outlet right ventricle |Gonadal dysgenesis |Reduced activity|Tetralogy of Fallot 	ICGC,
chr13	43829143	43829143	G	A	intronic	ENOX1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	Myasthenia gravis, adult-onset autoimmune	ICGC,
chr11	37700245	37700245	T	A	intergenic	C11orf74,LOC103312105	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,-	-,-	ICGC,
chr7	63506717	63506717	G	T	intronic	ZNF727P	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LIRI-JP|1|258|0.00388	-	-	-	-	ICGC,
chr15	24929708	24929708	T	G	intergenic	NPAP1,SNRPN	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Prader-Willi syndrome|Asperger syndrome|Angelman syndrome	ICGC,
chrX	143369612	143369612	-	ATCTCTCTC	intergenic	UBE2NL,SPANXN1	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	Potential protein deficiency,-	ICGC,
chr7	56689641	56689641	T	A	intergenic	LOC101928401,LOC100130849	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr11	92950159	92950159	C	T	intergenic	SLC36A4,CCDC67	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-,-	-,-	ICGC,
chr3	109905239	109905239	A	T	intergenic	LINC01205,PVRL3-AS1	unknown	SNV	-	-	-	0	-	-	-	-	-	COSN24224405	-	PACA-CA|1|268|0.00373,BRCA-FR|1|72|0.01389	-	-	-,-	-,-	COSMIC,ICGC,
chr1	14783596	14783596	G	A	intergenic	PRDM2,KAZN	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	mortality/aging,hematopoietic system phenotype	Bone mineral density, association with ,-	ICGC,
chr8	34738275	34738275	C	A	intergenic	DUSP26,UNC5D	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN5111587	-	LINC-JP|1|394|0.00254	-	-	-,-	-,-	COSMIC,ICGC,
chr9	114867966	114867966	A	T	ncRNA_intronic	MIR3134	unknown	SNV	-	-	-	0.1227	rs12684264	-	0.0840655	-	0.188	-	-	LAML-KR|1|205|0.00488	-	-	-	-	ICGC,
chr11	61703904	61703904	C	T	intergenic	RAB3IL1,BEST1	unknown	SNV	-	-	-	0.2498	rs7939370	-	0.303914	-	0.203	-	-	ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488,SKCA-BR|1|100|0.01000	-	-	-,vision/eye phenotype	-,Macular degeneration, age related|Macular dystrophy, vitelliform|Multifocal best vitelliform macular dystrophy|Multifocal vitelliform dystrophy|Nanophthalmos and retinal dystrophy|Retinal dystrophy |Retinitis pigmentosa|Vitreoretinochoroidopathy|Vitreoretinochoroidopathy, autosomal dominant|Leber congenital amaurosis|Juvenile vitelliform macular dystrophy|Bestrophinopathy.|"Bulls eye" maculopathy|Adult vitelliform macular dystrophy|Adult vitelliform maculopathy|Age-related macular degeneration |Best macular dystrophy|Best vitelliform macular dystrophy|Best vitelliform macular dystrophy, subclinical|Bestrophinopathy|Bestrophinopathy, angle-closure glaucoma, hyperopia & cataracts	ICGC,
chr19	8055222	8055222	-	T	intronic	ELAVL1	unknown	insertion	-	-	-	0.0222	-	-	-	-	-	COSN27444768	-	-	-	-	mortality/aging	-	COSMIC,
chr14	48894544	48894547	AAGA	-	intergenic	LINC00648,RPS29	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	ICGC,
chr9	930060	930060	C	A	intronic	DMRT1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	reproductive system phenotype	46,XY disorder of sex development |46,XY ovotesticular disorder of sexual development|Azoospermia  |XY gonadal dysgenesis|XY sex reversal 	ICGC,
chr16	64981847	64981847	G	A	exonic	CDH11	nonsynonymous	SNV	0.1	0.999	-	-	-	-	-	-	-	COSM30438	-	-	-	-	integument phenotype	-	COSMIC,
chr2	184082834	184082834	T	C	intergenic	NUP35,ZNF804A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,Neurodevelopmental disease|Reduced cortical gray matter thickness|Schizophrenia and bipolar disorder, association with|Schizophrenia, association with  	ICGC,
chr18	64030055	64030055	T	C	intergenic	CDH7,CDH19	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,Tetralogy of Fallot	ICGC,
chr4	175950628	175950628	G	C	intergenic	ADAM29,GPM6A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,reproductive system phenotype	-,Claustrophobia, association with	ICGC,
chr7	41639109	41639109	G	A	intergenic	LINC01449,INHBA	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17873406	-	ESAD-UK|1|301|0.00332	-	-	-,integument phenotype	-,Ovarian epithelial tumours, early onset	COSMIC,ICGC,
chr5	117969352	117969352	-	ATATATATATATATATATAT	intergenic	LOC102467225,DTWD2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,-	ICGC,
chrX	96108671	96108671	A	T	intronic	DIAPH2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	cardiovascular system phenotype	Premature ovarian failure	ICGC,
chr16	82366877	82366877	A	T	intergenic	MPHOSPH6,CDH13	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PRAD-CA|1|308|0.00325	-	-	-,mortality/aging	-,Higher adiponectin levels|Amyotrophic lateral sclerosis 	ICGC,
chr4	80688107	80688107	G	A	intergenic	LINC00989,PCAT4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr4	42281587	42281587	C	T	intergenic	BEND4,SHISA3	unknown	SNV	-	-	-	6.457e-05	rs370965321	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,normal phenotype	-,-	ICGC,
chr21	23716775	23716775	C	T	intergenic	LINC00308,D21S2088E	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr10	125385804	125385804	T	C	intergenic	BUB3,GPR26	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	integument phenotype,behavior/neurological phenotype	Variegated aneuploidy,-	ICGC,
chr10	3975927	3975927	C	T	intergenic	KLF6,MIR6078	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN9028614	-	PAEN-AU|1|52|0.01923	-	-	integument phenotype,-	Decreased promoter activity|Lung adenocarcinoma, reduced risk, association with.|Nonalcoholic fatty liver disease fibrosis, association with|Prostate cancer |Prostate cancer, risk, association with|Reduced hepatic insulin resistance,-	COSMIC,ICGC,
chr3	18945102	18945102	G	A	intergenic	SATB1,KCNH8	unknown	SNV	-	-	-	0.1746	rs62279690	-	0.129792	-	0.188	-	-	LAML-KR|1|205|0.00488	-	-	mortality/aging,-	-,-	ICGC,
chr5	28505485	28505485	C	T	intergenic	LINC01021,LSP1P3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr15	55933369	55933369	G	T	exonic	PRTG	stopgain	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-	Autism spectrum disorder	ICGC,
chr4	165230108	165230108	T	A	intronic	MARCH1	unknown	SNV	-	-	-	0.0026	rs372359098	-	-	-	-	COSN19016868	-	CLLE-ES|1|510|0.00196	-	-	hematopoietic system phenotype	-	COSMIC,ICGC,
chr16	25835378	25835378	C	G	intronic	HS3ST4	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr8	107140445	107140445	T	G	intergenic	ZFPM2,OXR1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	ESAD-UK|1|301|0.00332	-	-	integument phenotype,mortality/aging	Atrial septal defect & gonadal dysgenesis|Diaphragmatic hernia, congenital|Double outlet right ventricle |Gonadal dysgenesis |Reduced activity|Tetralogy of Fallot ,-	ICGC,
chr19	44660856	44660856	G	T	exonic	ZNF234	nonsynonymous	SNV	0.013	0.387	-	-	-	-	-	-	-	-	COAD|1|367|0.00272,COADREAD|1|489|0.00204	-	-	-	-	-	TCGA,
chr2	200732962	200732962	C	A	intergenic	FTCDNL1,C2orf69	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN27166092	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr2	200083891	200083891	C	T	intergenic	LOC101927619,SATB2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,Toriello-Carey syndrome|Pierre Robin sequence  |Intellectual disability, nonsyndromic|Dentofacial abnormalities|Cleft palate, osteoporosis and cognitive defects|Cleft palate|Autism spectrum disorder	ICGC,
chr9	37740553	37740553	G	A	exonic	FRMPD1	synonymous	SNV	-	-	-	-	-	-	-	-	-	COSM3657421	SKCM|1|368|0.00272	SKCM-US|1|335|0.00299	-	-	-	-	COSMIC,COSMIC,TCGA,ICGC,
chr6	102417504	102417504	T	A	intronic	GRIK2	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN23242753	-	MALY-DE|1|241|0.00415	-	-	behavior/neurological phenotype	Mental retardation, non-syndromic, autosomal recessive	COSMIC,ICGC,
chr1	234460578	234460578	C	T	downstream	SLC35F3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr7	145837598	145837598	A	T	intronic	CNTNAP2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	integument phenotype	Gilles de la Tourette syndrome|Intellectual disability  |Learning disability & speech problems|Mental retardation |Mental retardation, Pitt-Hopkins-like|Multiple congenital anomalies  |Seizures, neonatal |Speech delay  |Stuttering |Epileptic encephalopathy  |Epilepsy and schizophrenia|Autism|Autism spectrum disorder |Autism spectrum disorder, modifier of|Childhood apraxia of speech|Cortical dysplasia-focal epilepsy syndrome|Developmental and/or speech and/or behavioural problems|Developmental delay  |Developmental delay & dysmorphic features|Dyslexia 	ICGC,
chr14	66897425	66897425	G	A	intergenic	FUT8,LINC00238	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Pulmonary emphysema, association with,-	ICGC,
chr5	97348120	97348120	A	T	intergenic	LINC01340,RGMB	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-CN|1|402|0.00249	-	-	-,mortality/aging	-,-	ICGC,
chr9	34043591	34043591	-	CCTCCTGGACTCAC	intronic	UBAP2	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|3|67|0.04478	-	-	-	Hypoxia tolerance, association with|Colorectal cancer 	ICGC,
chr14	86362192	86362192	T	C	intergenic	FLRT2,LOC101928767	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26333335	-	PRAD-UK|1|140|0.00714	-	-	mortality/aging,-	-,-	COSMIC,ICGC,
chr7	67386201	67386201	G	T	intergenic	LINC01372,LOC102723427	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	ICGC,
chr10	73767417	73767417	C	T	exonic	CHST3	synonymous	SNV	-	-	4.264e-06	-	rs754380752	9.403e-06	-	-	-	COSM6628944	-	-	-	-	hematopoietic system phenotype	Spondyloepiphyseal dysplasia, Omani type with cardiac involvement|Spondyloepiphyseal dysplasia, Omani type|Lumbar disc degeneration, association with|Larsen syndrome, autosomal recessive|Desbuquois dysplasia, type 2|Chondrodysplasia, CHST3-related|Carbohydrate sulfotransferase 3 deficiency 	COSMIC,
chr16	1150044	1150044	G	A	intergenic	C1QTNF8,CACNA1H	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,cardiovascular system phenotype	-,Schizophrenia  |Idiopathic epilepsy, generalised|Epilepsy, childhood absence, association with|Epilepsy, childhood absence|Autism spectrum disorder |Altered channel function	ICGC,
chr1	157248721	157248721	G	A	intergenic	ETV3,FCRL5	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,-	-,-	ICGC,
chr16	65534946	65534946	C	T	ncRNA_intronic	LINC00922	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr17	3095288	3095288	G	A	intergenic	OR1G1,OR1A2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr1	238130829	238130829	G	T	intergenic	LOC100130331,LINC01139	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-DE|1|499|0.00200	-	-	-,-	-,-	ICGC,
chr21	20828514	20828514	G	-	intergenic	LOC101927797,LINC00320	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	ICGC,
chr9	1152594	1152594	T	C	intergenic	DMRT2,SMARCA2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	mortality/aging,integument phenotype	-,Short stature|Schizophrenia, association with   |Nicholaides-Baraitser syndrome|Multiple congenital anomalies  |Lung cancer, association with|Intellectual disabilty, short stature and dysmorphisms|Hepatocellular carcinoma, in smokers, association with.|Hepatocellular carcinoma, association with.|Developmental delay & dysmorphic features|Developmental delay & autistic features|Developmental delay  |Coffin-Siris syndrome	ICGC,
chr6	148121351	148121351	C	G	intergenic	SAMD5,SASH1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN26193014	-	PRAD-UK|1|140|0.00714	-	-	-,-	-,-	COSMIC,ICGC,
chr4	136804531	136804531	C	T	ncRNA_intronic	LINC00613	unknown	SNV	-	-	-	0.5482	rs34047302	-	0.438498	-	0.486	-	-	LAML-KR|1|205|0.00488	-	-	-	-	ICGC,
chr8	13258940	13258940	G	A	intronic	DLC1	unknown	SNV	-	-	0.0013	0.0012	rs201527331	0.0013	0.000599042	0.0015	-	COSN17141222	-	-	-	-	mortality/aging	Congenital heart disease 	COSMIC,
chr1	187504814	187504814	T	C	intergenic	PLA2G4A,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	mortality/aging,-	Asthma, association with|Cryptogenic multifocal ulcerating stenosing enteritis|Increased enzyme activity|Prostanoid biosynthesis deficiency,-	ICGC,
chr3	95144328	95144328	C	A	intergenic	LINC00879,MTHFD2P1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN17306428	-	ESAD-UK|1|301|0.00332	-	-	-,-	-,-	COSMIC,ICGC,
chr8	73480124	73480124	C	T	exonic	KCNB2	nonsynonymous	SNV	0.007	1.0	4.066e-06	-	-	-	-	-	-	COSM6690547	-	GACA-JP|1|585|0.00171	-	-	behavior/neurological phenotype	Tetralogy of Fallot	COSMIC,ICGC,
chr2	83623863	83623863	C	T	intergenic	LOC1720,FUNDC2P2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,-	-,-	ICGC,
chr12	87065652	87065652	G	T	intronic	MGAT4C	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN15379380	-	PRAD-UK|1|140|0.00714	-	-	-	Prostate cancer, increased risk |Mental retardation	COSMIC,COSMIC,ICGC,
chr2	30628388	30628388	G	C	intergenic	LOC285043,LCLAT1	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN24961952	-	LICA-FR|1|252|0.00397	-	-	-,behavior/neurological phenotype	-,-	COSMIC,ICGC,
chr8	68159968	68159968	G	A	intronic	ARFGEF1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-	-	ICGC,
chr5	163289925	163289925	T	G	intergenic	MAT2B,LOC101927835	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,-	ICGC,
chr18	30770669	30770669	C	T	intronic	CCDC178	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|2|183|0.01093	-	-	-	-	ICGC,
chr18	35905412	35905412	A	G	intergenic	MIR4318,LINC00669	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN21816267	-	BRCA-EU|1|569|0.00176	-	-	-,-	-,-	COSMIC,ICGC,
chr9	36882176	36882176	C	T	intronic	PAX5	unknown	SNV	-	-	-	3.233e-05	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	mortality/aging	Acute lymphoblastic leukaemia|Autism|Schizophrenia	ICGC,
chr1	105244532	105244532	C	G	intergenic	LOC100129138,NONE	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN25613601	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	COSMIC,ICGC,
chr5	143761603	143761603	-	GTAC	intronic	KCTD16	unknown	insertion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-	-	ICGC,
chr6	148413086	148413086	G	C	intergenic	SAMD5,SASH1	unknown	SNV	-	-	-	0.1885	rs9377104	-	0.319888	-	0.130	-	-	ESAD-UK|1|301|0.00332,LAML-KR|1|205|0.00488	-	-	-,-	-,-	ICGC,
chrX	120932290	120932290	T	C	intergenic	GLUD2,GRIA3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176	-	-	-,integument phenotype	Parkinson disease, earlier onset, association with,Mental retardation, X-linked|Intellectual disability, X-linked with facial dysmorphism|Intellectual disability, X-linked|Autism spectrum disorder	ICGC,
chr4	108051251	108051251	T	-	intergenic	DKK2,PAPSS1	unknown	deletion	-	-	-	0.0040	rs567504122	-	-	-	-	-	-	BTCA-SG|1|71|0.01408	-	-	hematopoietic system phenotype,-	Schizophrenia, association with  ,-	ICGC,
chr4	47882755	47882755	T	C	intronic	NFXL1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	skeleton phenotype	-	ICGC,
chr2	181673601	181673601	C	T	ncRNA_intronic	SCHLAP1	unknown	SNV	-	-	-	0.0001	rs182759557	-	0.000199681	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-	-	ICGC,
chr17	65745273	65745273	A	G	intergenic	NOL11,BPTF	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,mortality/aging	-,-	ICGC,
chr11	38953945	38953945	T	G	intergenic	LOC101928536,LRRC4C	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-,-	-,-	ICGC,
chr9	25387231	25387231	C	T	intergenic	IZUMO3,TUSC1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr5	125038829	125038829	C	T	intergenic	LOC101927460,LOC102546228	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MELA-AU|1|183|0.00546	-	-	-,-	-,-	ICGC,
chr14	55166187	55166187	G	A	intronic	SAMD4A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	LICA-FR|1|252|0.00397	-	-	-	Potential protein deficiency	ICGC,
chr12	78553255	78553255	C	G	intronic	NAV3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	MALY-DE|1|241|0.00415	-	-	-	-	ICGC,
chr10	11941549	11941549	G	A	intergenic	PROSER2-AS1,UPF2	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000	-	-	-,mortality/aging	-,Intellectual disability  |Schizophrenia  	ICGC,
chr13	41353834	41353835	AC	-	intergenic	MRPS31,SLC25A15	unknown	deletion	-	-	-	-	-	-	-	-	-	-	-	LMS-FR|1|67|0.01493	-	-	-,-	-,HHH syndrome	ICGC,
chr2	239876927	239876927	C	T	intergenic	FLJ43879,HDAC4	unknown	SNV	-	-	-	3.232e-05	-	-	-	-	-	COSN7241640	-	PACA-AU|1|391|0.00256	-	-	-,integument phenotype	-,Anorexia nervosa/bulimia nervosa|Autism spectrum disorder|Brachydactyly mental retardation syndrome|Brachydactyly mental retardation syndrome & hyperoxaluria, type 1	COSMIC,ICGC,
chr2	184295137	184295137	G	A	intergenic	NUP35,ZNF804A	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	GACA-CN|1|123|0.00813	-	-	-,-	-,Neurodevelopmental disease|Reduced cortical gray matter thickness|Schizophrenia and bipolar disorder, association with|Schizophrenia, association with  	ICGC,
chr18	54901795	54901795	G	A	intergenic	BOD1L2,ST8SIA3	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	SKCA-BR|1|100|0.01000,MELA-AU|2|183|0.01093	-	-	-,-	-,-	ICGC,
chr9	14101961	14101961	T	-	intronic	NFIB	unknown	deletion	-	-	-	0.0002	-	-	-	-	-	-	-	BRCA-EU|1|569|0.00176,LIRI-JP|1|258|0.00388	-	-	mortality/aging	Agenesis of corpus callosum 	ICGC,
chr8	6230222	6230222	T	A	intergenic	CSMD1,LOC100287015	unknown	SNV	-	-	-	-	rs57849944	-	-	-	-	COSN17480050	-	SKCA-BR|1|100|0.01000	-	-	-,-	Schizophrenia, association with |Hyperinsulinism|Autism|Attention deficit hyperactivity disorder ,-	COSMIC,ICGC,
chr4	101517203	101517203	G	A	intergenic	EMCN,LINC01216	unknown	SNV	-	-	-	-	-	-	-	-	-	COSN6787559	-	LIRI-JP|1|258|0.00388	-	-	-,-	-,-	COSMIC,COSMIC,ICGC,
chr5	151096150	151096150	G	A	intergenic	CTB-113P19.1,ATOX1	unknown	SNV	-	-	-	-	-	-	-	-	-	-	-	PBCA-US|1|186|0.00538	-	-	-,integument phenotype	-,-	ICGC,
chr1	64091308	6409