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+ Genes 356

Genes:
AADACL3, ACACB, ACADS, ACSM2A, ACTN4, ACTR8, ADAMTS13, ADH1C, AHI1, ALDH3B1, ALDH4A1, ALG9, ALKBH3, ALOX15B, ANPEP, AOAH, APLF, APRT, AQP2, ARFIP1, ARHGAP22, ART5, ASMTL, ASS1, ATG9B, ATP6V1B1, AVL9, BARD1, BLVRB, C10ORF68, C10orf113, C11orf40, C2orf83, C4orf45, C5orf20, C9orf89, CA2, CA4, CACNA1F, CAD, CAPN8, CARHSP1, CASP12, CASP8, CBR3, CCDC105, CCDC144NL, CCDC169, CCDC36, CCDC67, CD180, CD207, CHD6, CHI3L1, CHI3L2, CHIA, CHIT1, CILP, CLDN5, CLRN2, CLTCL1, COL18A1, COL26A1, COMT, CREB3L1, CRYBA4, CRYBB1, CTD-3193O13.9, CTPS2, CYFIP2, CYP11B2, CYP2B6, CYP3A43, DAZAP1, DCAF7, DDI2, DDX60, DEFB126, DLG1, DNAH17, DNAH5, DNAJC28, DPP6, DPYSL2, DTX4, DUSP12, ECHDC3, EFHB, EI24, EML3, ENDOV, ENG, ENPP4, EP300, EPHX2, ERAP2, ESRRA, FAM187B, FAM188B, FAM228B, FAN1, FBRSL1, FDFT1, FOS, FOXD4, FREM2, FSCB, FSD2, FUT2, GAB4, GABRR3, GALK2, GALM, GALR2, GAPDH, GATM, GBA3, GIMAP2, GJB6, GLTPD2, GMPR, GPATCH4, GPR137B, H2BFM, HAAO, HAS1, HDGF, HIBCH, HLA-A, HPN, HSH2D, HSPA2, HSPA6, HSPB6, HYDIN, IDUA, IFNE, IFNL2, IL17RB, IL34, INMT, INPP5E, IQSEC1, ITIH5, JAK1, KDM2A, KIAA2013, KIF25, KIR2DS4, KPNA2, KPNB1, KRBA1, KRT24, KRT37, KRT38, KRTAP10-6, KRTAP10-7, LGR5, LHX6, LIMK1, LRP6, LRRK2, LRWD1, MAGEB16, MAP1LC3C, MAP2K3, MAP3K9, MAPK8IP2, MAPKAPK2, MDH1B, ME1, MEP1A, MEP1B, METTL21C, METTL8, MFSD4, MMP28, MOB3C, MRI1, MROH8, MRPL40, MS4A12, MTERFD2, MUC5B, MUS81, NAALAD2, NACA2, NAPSA, NCF2, NET1, NEU4, NHLRC1, NLRC3, NLRP8, NLRX1, NOP16, NPPA, NPSR1, NSUN7, NT5E, NUDT11, NUMBL, OAS2, ONECUT3, OPLAH, OR10X1, OR1S1, OR2B11, OR2G6, OR2L8, OR2M4, OR2T12, OR2T35, OR2T4, OR4C16, OR4C3, OR4L1, OR51I2, OR51Q1, OR52A1, OR52E4, OR52E8, OR5AR1, OR5K2, OR5M1, OR6C1, OR7G3, OR8K1, OXCT1, PADI2, PADI4, PARP15, PCDH10, PCDH9, PCSK9, PDCD6, PDE1B, PDE4B, PDE4DIP, PDE6G, PDK2, PFKP, PIK3R6, PKD1L2, PKN1, PLA2G2C, PLCB3, PLEKHA2, PLIN1, PLXNC1, PNCK, PNLIPRP2, PNPT1, PPP1R9B, PPP6R2, PPT1, PRDM16, PREP, PRIM2, PRKCQ, PRKDC, PRSS3, PRSS48, PSAT1, PTCHD3, PTGR2, PTPN6, PTPRO, PVRIG, QPRT, RAB8A, RAD52, RBBP4, RECQL4, RIBC2, RIN2, RIPK1, RNF31, RNF8, RP11-156E8.1, RPA1, SARDH, SARM1, SBK3, SCAPER, SCRN3, SCUBE1, SDR42E1, SEC14L4, SEMA4A, SENP3, SERPINB11, SERPINB9, SETX, SGPL1, SHARPIN, SIGLEC12, SIRT5, SLC22A10, SLC22A24, SLC41A3, SLC46A1, SLC4A3, SLC6A18, SND1, SNX9, SON, SPHK1, SPTA1, SPZ1, SRRM3, SRSF8, SYMPK, TAAR9, TAS2R46, TBP, TES, TGM4, TGOLN2, THEM5, TLR3, TMEM120A, TMPRSS11A, TNFRSF10B, TNFRSF6B, TNRC18, TP73, TPH2, TRADD, TSGA10IP, TSPAN10, TTC4, TYW1B, UBE2NL, UMPS, UNC50, URB1, UROS, USP29, USP36, VENTX, VPS13C, VSIG10L, WARS, WNK1, XYLB, ZAN, ZAP70, ZNF117, ZNF275, ZNF337, ZNF440, ZNF516, ZNF645, ZNF681, ZNF880,

+ Genes associated with diseases 86

Genes at Omim

ACADS, ACTN4, ADAMTS13, ADH1C, AHI1, ALDH4A1, ALG9, APRT, AQP2, ASS1, BARD1, CA2, CA4, CACNA1F, CAD, CASP12, CASP8, CD207, CHI3L1, CILP, COL18A1, COMT, CREB3L1, CRYBA4, CRYBB1, CYFIP2, CYP11B2, CYP2B6, DNAH5, DPP6, ENG, EP300, EPHX2, FAN1, FDFT1, FREM2, FUT2, GATM, GJB6, HAAO, HIBCH, HLA-A, HYDIN, IDUA, INPP5E, LRP6, LRRK2, MUC5B, NCF2, NHLRC1, NPPA, NPSR1, NT5E, OPLAH, OXCT1, PADI4, PCSK9, PDE6G, PLIN1, PNPT1, PPT1, PRDM16, PRKDC, PSAT1, PTPRO, RECQL4, RIN2, RIPK1, SARDH, SCAPER, SEMA4A, SETX, SGPL1, SLC46A1, SON, SPTA1, TBP, TLR3, TNFRSF10B, TPH2, UMPS, UROS, VPS13C, WARS, WNK1, ZAP70,
ACADS Acyl-CoA dehydrogenase, short-chain, deficiency of, 201470 (3)
ACTN4 Glomerulosclerosis, focal segmental, 1, 603278 (3)
ADAMTS13 Thrombotic thrombocytopenic purpura, familial, 274150 (3)
ADH1C {Parkinson disease, susceptibility to}, 168600 (3)
{Alcohol dependence, protection against}, 103780 (3)
AHI1 Joubert syndrome 3, 608629 (3)
ALDH4A1 Hyperprolinemia, type II, 239510 (3)
ALG9 Gillessen-Kaesbach-Nishimura syndrome, 263210 (3)
Congenital disorder of glycosylation, type Il, 608776 (3)
APRT Adenine phosphoribosyltransferase deficiency, 614723 (3)
AQP2 Diabetes insipidus, nephrogenic, 125800 (3)
ASS1 Citrullinemia, 215700 (3)
BARD1 {Breast cancer, susceptibility to}, 114480 (3)
CA2 Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, 259730 (3)
CA4 Retinitis pigmentosa 17, 600852 (3)
CACNA1F Aland Island eye disease, 300600 (3)
Cone-rod dystrophy, X-linked, 3, 300476 (3)
Night blindness, congenital stationary (incomplete), 2A, X-linked, 300071 (3)
CAD Epileptic encephalopathy, early infantile, 50, 616457 (3)
CASP12 {Sepsis, susceptibility to} (3)
CASP8 Hepatocellular carcinoma, somatic, 114550 (3)
{Lung cancer, protection against}, 211980 (3)
?Autoimmune lymphoproliferative syndrome, type IIB, 607271 (3)
{Breast cancer, protection against}, 114480 (3)
CD207 [?Birbeck granule deficiency], 613393 (3)
CHI3L1 {Schizophrenia, susceptibility to}, 181500 (3)
{Asthma-related traits, susceptibility to, 7}, 611960 (3)
CILP {Lumbar disc disease, susceptibility to}, 603932 (3)
COL18A1 Knobloch syndrome, type 1, 267750 (3)
COMT {Panic disorder, susceptibility to}, 167870 (3)
{Schizophrenia, susceptibility to}, 181500 (3)
CREB3L1 Osteogenesis imperfecta, type XVI, 616229 (3)
CRYBA4 Cataract 23, 610425 (3)
CRYBB1 Cataract 17, multiple types, 611544 (3)
CYFIP2 Epileptic encephalopathy, early infantile, 65, 618008 (3)
CYP11B2 Aldosterone to renin ratio raised (3)
{Low renin hypertension, susceptibility to} (3)
Hypoaldosteronism, congenital, due to CMO I deficiency, 203400 (3)
Hypoaldosteronism, congenital, due to CMO II deficiency, 610600 (3)
CYP2B6 Efavirenz, poor metabolism of, 614546 (3)
{Efavirenz central nervous system toxicity, susceptibility to}, 614546 (3)
DNAH5 Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 (3)
DPP6 {Ventricular fibrillation, paroxysmal familial, 2}, 612956 (3)
Mental retardation, autosomal dominant 33, 616311 (3)
ENG Telangiectasia, hereditary hemorrhagic, type 1, 187300 (3)
EP300 Colorectal cancer, somatic, 114500 (3)
Menke-Hennekam syndrome 2, 618333 (3)
Rubinstein-Taybi syndrome 2, 613684 (3)
EPHX2 {Hypercholesterolemia, familial, due to LDLR defect, modifier of}, 143890 (3)
FAN1 Interstitial nephritis, karyomegalic, 614817 (3)
FDFT1 Squalene synthase deficiency, 618156 (3)
FREM2 Fraser syndrome 2, 617666 (3)
FUT2 {Norwalk virus infection, resistance to} (3)
{Vitamin B12 plasma level QTL1}, 612542 (3)
[Bombay phenotype, digenic], 616754 (3)
GATM Cerebral creatine deficiency syndrome 3, 612718 (3)
GJB6 Deafness, autosomal dominant 3B, 612643 (3)
Deafness, autosomal recessive 1B, 612645 (3)
Deafness, digenic GJB2/GJB6, 220290 (3)
Ectodermal dysplasia 2, Clouston type, 129500 (3)
HAAO Vertebral, cardiac, renal, and limb defects syndrome 1, 617660 (3)
HIBCH 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620 (3)
HLA-A {Hypersensitivity syndrome, carbamazepine-induced, susceptibility to}, 608579 (3)
HYDIN Ciliary dyskinesia, primary, 5, 608647 (3)
IDUA Mucopolysaccharidosis Ih, 607014 (3)
Mucopolysaccharidosis Ih/s, 607015 (3)
Mucopolysaccharidosis Is, 607016 (3)
INPP5E Joubert syndrome 1, 213300 (3)
Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156 (3)
LRP6 Tooth agenesis, selective, 7, 616724 (3)
{Coronary artery disease, autosomal dominant, 2}, 610947 (3)
LRRK2 {Parkinson disease 8}, 607060 (3)
MUC5B {Pulmonary fibrosis, idiopathic, susceptibility to}, 178500 (3)
NCF2 Chronic granulomatous disease due to deficiency of NCF-2, 233710 (3)
NHLRC1 Epilepsy, progressive myoclonic 2B (Lafora), 254780 (3)
NPPA Atrial fibrillation, familial, 6, 612201 (3)
Atrial standstill 2, 615745 (3)
NPSR1 {Asthma, susceptibility to, 2}, 608584 (3)
NT5E Calcification of joints and arteries, 211800 (3)
OPLAH 5-oxoprolinase deficiency, 260005 (3)
OXCT1 Succinyl CoA:3-oxoacid CoA transferase deficiency, 245050 (3)
PADI4 {Rheumatoid arthritis, susceptibility to}, 180300 (3)
PCSK9 {Low density lipoprotein cholesterol level QTL 1}, 603776 (3)
Hypercholesterolemia, familial, 3, 603776 (3)
PDE6G Retinitis pigmentosa 57, 613582 (3)
PLIN1 Lipodystrophy, familial partial, type 4, 613877 (3)
PNPT1 Combined oxidative phosphorylation deficiency 13, 614932 (3)
Deafness, autosomal recessive 70, 614934 (3)
PPT1 Ceroid lipofuscinosis, neuronal, 1, 256730 (3)
PRDM16 Cardiomyopathy, dilated, 1LL, 615373 (3)
Left ventricular noncompaction 8, 615373 (3)
PRKDC Immunodeficiency 26, with or without neurologic abnormalities, 615966 (3)
PSAT1 Neu-Laxova syndrome 2, 616038 (3)
?Phosphoserine aminotransferase deficiency, 610992 (3)
PTPRO Nephrotic syndrome, type 6, 614196 (3)
RECQL4 Baller-Gerold syndrome, 218600 (3)
RAPADILINO syndrome, 266280 (3)
Rothmund-Thomson syndrome, 268400 (3)
RIN2 Macrocephaly, alopecia, cutis laxa, and scoliosis, 613075 (3)
RIPK1 Immunodeficiency 57, 618108 (3)
SARDH [Sarcosinemia], 268900 (3)
SCAPER Intellectual developmental disorder and retinitis pigmentosa, 618195 (3)
SEMA4A Cone-rod dystrophy 10, 610283 (3)
Retinitis pigmentosa 35, 610282 (3)
SETX Amyotrophic lateral sclerosis 4, juvenile, 602433 (3)
Spinocerebellar ataxia, autosomal recessive 1, 606002 (3)
SGPL1 Nephrotic syndrome, type 14, 617575 (3)
SLC46A1 Folate malabsorption, hereditary, 229050 (3)
SON ZTTK syndrome, 617140 (3)
SPTA1 Elliptocytosis-2, 130600 (3)
Pyropoikilocytosis, 266140 (3)
Spherocytosis, type 3, 270970 (3)
TBP {Parkinson disease, susceptibility to}, 168600 (3)
Spinocerebellar ataxia 17, 607136 (3)
TLR3 {HIV1 infection, resistance to}, 609423 (3)
{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 2}, 613002 (3)
TNFRSF10B Squamous cell carcinoma, head and neck, 275355 (3)
TPH2 {Unipolar depression, susceptibility to}, 608516 (3)
{Attention deficit-hyperactivity disorder, susceptibility to, 7}, 613003 (3)
UMPS Orotic aciduria, 258900 (3)
UROS Porphyria, congenital erythropoietic, 263700 (3)
VPS13C Parkinson disease 23, autosomal recessive, early onset, 616840 (3)
WARS Neuronopathy, distal hereditary motor, type IX, 617721 (3)
WNK1 Neuropathy, hereditary sensory and autonomic, type II, 201300 (3)
Pseudohypoaldosteronism, type IIC, 614492 (3)
ZAP70 Autoimmune disease, multisystem, infantile-onset, 2, 617006 (3)
Immunodeficiency 48, 269840 (3)

Genes at Clinical Genomics Database

ACADS, ACTN4, ADAMTS13, AHI1, ALDH4A1, ALG9, APRT, AQP2, ASS1, ATP6V1B1, BARD1, CA2, CA4, CACNA1F, CAD, CASP8, CD207, CHIT1, COL18A1, COMT, CREB3L1, CRYBA4, CRYBB1, CYP11B2, CYP2B6, DNAH5, DPP6, ENG, EP300, FAN1, FREM2, GATM, GJB6, HIBCH, HLA-A, IDUA, INPP5E, LRP6, LRRK2, NCF2, NHLRC1, NPPA, NT5E, OPLAH, OXCT1, PCSK9, PDE6G, PLIN1, PNPT1, PPT1, PRDM16, PRKDC, PSAT1, PTPRO, RECQL4, RIN2, SEMA4A, SETX, SLC46A1, SPTA1, TBP, TLR3, TNFRSF10B, UMPS, UROS, VPS13C, WNK1, ZAP70,
ACADS Acyl-CoA dehydrogenase, short-chain, deficiency of
ACTN4 Focal segmental glomerulosclerosis 1
ADAMTS13 Thrombotic thrombocytopenic purpura, familial
Schulman-Upshaw syndrome
AHI1 Joubert syndrome 3
ALDH4A1 Hyperprolinemia, type II
ALG9 Congenital disorder of glycosylation, type Il
APRT Adenine phosphoribosyltransferase deficiency
AQP2 Diabetes insipidus, nephrogenic, autosomal
ASS1 Citrullinemia
ATP6V1B1 Renal tubular acidosis with deafness
BARD1 Breast cancer, susceptibility to
CA2 Osteopetrosis, autosomal recessive 3, with renal tubular acidosis
CA4 Retinitis pigmentosa 17
CACNA1F Aland Island eye disease
Cone-rod dystrophy, X-linked, 3
Night blindness, congenital stationary, X-linked, type 2A
CAD Congenital disorder of glycosylation, type Iz
CASP8 Caspase 8 defiency
CD207 Birbeck granule deficiency
CHIT1 Chitotriosidase deficiency
COL18A1 Knobloch syndrome 1
COMT Medication response, association with
CREB3L1 Osteogenesis imperfecta, type XVI
CRYBA4 Cataract 23
CRYBB1 Cataract, congenital nuclear, autosomal recessive 3
Cataract, pulvurent
CYP11B2 Corticosterone methyloxidase type I deficiency
Corticosterone methyloxidase type II deficiency
Glucocorticoid-remediable aldosteronism
CYP2B6 Efavirenz, poor metabolism of
DNAH5 Ciliary dyskinesia, primary, 3, with or without situs inversus
DPP6 Ventricular fibrillation, paroxysmal familial, 2
ENG Hereditary hemorrhagic telangiectasia, type 1
Juvenile polyposis syndrome
EP300 Rubinstein-Taybi syndrome 2
FAN1 Interstitial nephritis, karyomegalic
FREM2 Fraser syndrome
GATM Cerebral creatine deficiency syndrome 3
GJB6 Deafness, autosomal recessive 1B
Deafness, digenic
HIBCH 3-hydroxyisobutryl-CoA hydrolase deficiency
HLA-A Drug-induced toxicity, susceptibility to
IDUA Mucopolysaccharidosis type I
INPP5E Joubert syndrome 1
Mental retardation, truncal obesity, retinal dystrophy, and micropenis (MORM syndrome)
LRP6 Coronary artery disease, autosomal dominant 2
LRRK2 Parkinson disease 8
Dementia, Lewy body
NCF2 Chronic granulomatous disease, autosomal recessive, cytochrome b-positive, type II
NHLRC1 Epilepsy, progressive myoclonic 2B (Lafora)
NPPA Atrial fibrillation, familial, 6
Atrial standstill 2
NT5E Calcification of joints and arteries
OPLAH 5-oxoprolinase deficiency
OXCT1 Succinyl CoA:3-oxoacid CoA transferase deficiency
PCSK9 Hypercholesterolemia, familial, 3
PDE6G Retinitis pigmentosa 57
PLIN1 Lipodystrophy, familial partial, type 4
PNPT1 Deafness, autosomal recessive 70
PPT1 Ceroid lipofuscinosis, neuronal, 1
PRDM16 Cardiomyopathy, dilated, ILL
Left ventricular noncompaction 8
PRKDC Immunodeficiency 26 with or without neurologic abnormalities
PSAT1 Phosphoserine aminotransferase deficiency
PTPRO Nephrotic syndrome, type 6
RECQL4 Baller-Gerold syndrome
RAPADILINO syndrome
Rothmund-Thomson syndrome
RIN2 Macrocephaly, alopecia, cutis laxa, and scoliosis
SEMA4A Cone-rod dystrophy 10
Retinitis pigmentosa 35
SETX Spinocerebellar ataxia, autosomal recessive 1
Amyotrophic lateral sclerosis 4, juvenile
Ataxia with oculomotor apraxia, type 2
SLC46A1 Folate malabsorption, hereditary
SPTA1 Spherocytosis, type 3
Pyropoikilocytosis , hereditary
Ellipsocytosis 2
TBP Spinocerebellar ataxia 17
TLR3 Herpes simplex encephalitis, susceptibility to, 2
TNFRSF10B Squamous cell carcinoma, head and neck
UMPS Orotic aciduria
UROS Porphyria, congenital erythropoietic
VPS13C Parkinson disease 23, autosomal recessive, early onset
WNK1 Pseudohypoaldosteronism, type IIC
Neuropathy, hereditary sensory and autonomic, type IIA
ZAP70 Selective T-cell defect

Genes at HGMD

Summary

Number of Variants: 388
Number of Genes: 356

Export to: CSV

AADACL3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_820 1 rs770467308
dbSNP Clinvar 		12785493 1122.47 TG T,TT PASS 0/1 197 FRAME_SHIFT HIGH None None None None None None None AADACL3|0.001467435|92.94%

ACACB
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_820 12 rs2300455
dbSNP Clinvar 		109623516 265.98 G A PASS 0/1 105 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.15955 0.15950 0.14624 0.04 0.48 None None None None None None ACACB|0.108212697|49.54%
View sp16_multisample SP16_820 12 rs11065772
dbSNP Clinvar 		109617865 379.04 T C PASS 1/1 44 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.67732 0.67730 0.25996 None None None None None None ACACB|0.108212697|49.54%

ACADS
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_820 12 rs76543640
dbSNP Clinvar 		121174938 211.45 C T PASS 0/1 49 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.07608 0.07608 0.00694 None None None None None None ACADS|0.070436549|57.39%
View sp16_multisample SP16_820 12 rs3914
dbSNP Clinvar 		121174899 309.4 T C PASS 1/1 45 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.59066 0.59070 0.49323 None None None None None None ACADS|0.070436549|57.39%

ACSM2A
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_820 16 rs1700805
dbSNP Clinvar 		20488696 41.73 A G PASS 0/1 34 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.48482 0.48480 0.35969 None None None None None None ACSM2A|0.005190474|85.6%

ACTN4
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_820 19 rs3745859
dbSNP Clinvar 		39196745 219.1 C T PASS 0/1 109 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.33926 0.33930 0.39236 None None None None None None ACTN4|0.387377198|21.58%

ACTR8
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_820 3 rs3733082
dbSNP Clinvar 		53914093 217.52 G A PASS 0/1 128 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.10743 0.10740 0.05621 0.40 0.05 None None None None None None ACTR8|0.331819735|25.35%

ADAMTS13
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_820 9 rs3124768
dbSNP Clinvar 		136304497 768.65 A G PASS 1/1 76 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.51597 0.51600 0.41542 None None None None None None ADAMTS13|0.009367264|81.4%

ADH1C
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_820 4 rs283413
dbSNP Clinvar 		100268190 1180.15 A C PASS 1/1 129 STOP_LOST HIGH None 0.99281 0.99280 0.00839 None None None None None None None

AHI1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_820 6 rs755246809
dbSNP Clinvar 		135726088 47.31 CT C PASS 0/1 65 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None None None None None None None AHI1|0.23811055|32.57%

ALDH3B1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_820 11 rs11436139,rs58238184
dbSNP Clinvar 		67795378 161.59 G GC PASS 1/1 33 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 0.99980 0.99980 0.00424 None None None None None None ALDH3B1|0.033093329|68.12%
View sp16_multisample SP16_820 11 rs58160034,rs397695802
dbSNP Clinvar 		67789293 634.04 G GC PASS 1/1 122 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 0.00280 0.99720 0.00024 None None None None None None ALDH3B1|0.033093329|68.12%

ALDH4A1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_820 1 rs2230709
dbSNP Clinvar 		19201928 133.55 C T PASS 0/1 45 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.04792 0.04792 0.11203 0.56 0.01 None None None None None None ALDH4A1|0.121498662|47.22%

ALG9
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_820 11 rs10708475
dbSNP Clinvar 		111742145 376.17 CG C PASS 1/1 72 FRAME_SHIFT HIGH None 1.00000 1.00000 0.00040 None None None None None None ALG9|0.352156163|23.94%

ALKBH3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_820 11 rs1048928
dbSNP Clinvar 		43940644 759.67 G T PASS 1/1 72 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.61621 0.61620 0.46456 None None None None None None ALKBH3|0.085956572|53.95%

ALOX15B
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_820 17 rs6503070
dbSNP Clinvar 		7948175 54.05 C T PASS 0/1 11 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.59724 0.59720 0.44572 6.72 0.02 0.40915 T None None None None ALOX15B|0.008183706|82.49%
View sp16_multisample SP16_820 17 rs76589243
dbSNP Clinvar 		7942901 141.64 C G PASS 0/1 56 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.26358 0.26360 0.22180 None None None None None None ALOX15B|0.008183706|82.49%

ANPEP
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_820 15 rs25653
dbSNP Clinvar 		90349558 328.96 C T PASS 0/1 125 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.57907 0.57910 0.36598 0.53 0.00 None None None None None None ANPEP|0.009750059|81.03%

AOAH
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_820 7 rs59476355
dbSNP Clinvar 		36552729 224.21 A AT PASS 1/1 67 FRAME_SHIFT HIGH None 0.99980 0.99980 None None None None None None AOAH|0.05743156|60.58%

APLF
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_820 2 rs139666972
dbSNP Clinvar 		68765134 441.67 AAAG A,AA PASS 1/1 123 FRAME_SHIFT HIGH None 0.04593 0.04593 0.05240 None None None None None None APLF|0.028550039|70.16%

APRT
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_820 16 rs565636938
dbSNP Clinvar 		88876120 70.91 G A PASS 0/1 57 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.00040 0.00040 None None None None None None APRT|0.174836512|39.66%

AQP2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_820 12 rs426496
dbSNP Clinvar 		50348078 459.59 T C PASS 0/1 149 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.66713 0.66710 0.30671 None None None None None None AQP2|0.155383896|42.24%

ARFIP1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_820 4 . 153802193 299.35 A AT,T PASS 1/2 33 FRAME_SHIFT HIGH None None None None None None None ARFIP1|0.56323648|13.24%

ARHGAP22
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_820 10 . 49659083 1152.6 GC G,GG PASS 1/2 194 FRAME_SHIFT HIGH None 0.01567 None None None None None None ARHGAP22|0.033591165|67.92%

ART5
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_820 11 . 3661588 150.73 G GT... PASS 1/1 33 FRAME_SHIFT HIGH None None None None None None None ART5|0.101580058|50.85%

ASMTL
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_820 X . 1522163 125.74 CAG CG,C PASS 1/1 48 FRAME_SHIFT+STOP_LOST HIGH None None None None None None None ASMTL|0.001996891|91.03%

ASS1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_820 9 rs10901072
dbSNP Clinvar 		133346226 98.13 C T PASS 0/1 51 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.10723 0.10720 0.12402 None None None None None None ASS1|0.463790404|17.47%

ATG9B
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_820 7 rs11393607,rs77573754
dbSNP Clinvar 		150713902 123.61 G GC PASS 1/1 17 FRAME_SHIFT HIGH None 1.00000 1.00000 0.00099 None None None None None None ATG9B|0.090467592|53.12%

ATP6V1B1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_820 2 rs11681642
dbSNP Clinvar 		71163086 37.79 T C PASS 0/1 10 START_LOST HIGH None 0.36881 0.36880 0.41504 0.00 0.60 None None None None None None ATP6V1B1|0.123167959|46.96%

AVL9
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_820 7 . 32535357 802.95 CCG C,... PASS 1/1 130 FRAME_SHIFT HIGH None None None None None None None AVL9|0.207787031|35.83%

BARD1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_820 2 rs876660006
dbSNP Clinvar 		215634029 16.28 A G PASS 0/1 38 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.04 0.05 None None None None None None BARD1|0.230178617|33.35%

BLVRB
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_820 19 rs1061197
dbSNP Clinvar 		40964312 16.46 G A PASS 0/1 5 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.10723 0.10720 0.11854 None None None None None None BLVRB|0.146006015|43.58%

C10orf113
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_820 10 rs72102767,rs45546236
dbSNP Clinvar 		21435340 236.36 ACACT A PASS 1/1 40 FRAME_SHIFT HIGH None 0.25160 0.25160 0.19292 None None None None None None NEBL|0.384110937|21.79%,C10orf113|0.004367738|86.51%

C10ORF68
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_820 10 rs528676800,rs371466318
dbSNP Clinvar 		33136818 253.36 TAA T PASS 1/1 70 FRAME_SHIFT HIGH None 0.01577 0.01577 0.03340 None None None None None None None

C11orf40
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_820 11 rs141600462
dbSNP Clinvar 		4592706 47.51 T TAC PASS 0/1 124 FRAME_SHIFT HIGH None 0.42640 None None None None None None C11orf40|0.000863852|96.27%

C2orf83
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_820 2 rs2176186
dbSNP Clinvar 		228476140 285.44 C T PASS 0/1 115 STOP_GAINED HIGH None 0.31390 0.31390 0.28079 None None None None None None C2orf83|0.001157033|94.67%

C4orf45
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_820 4 . 159894304 978.39 CT C,CC PASS 1/2 115 FRAME_SHIFT HIGH None None None None None None None C4orf45|0.003496909|87.79%

C5orf20
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_820 5 rs12520799
dbSNP Clinvar 		134782450 489.19 T A PASS 0/1 67 STOP_GAINED HIGH None 0.64517 0.64520 0.40151 None None None None None None DCANP1|0.000625841|97.73%,TIFAB|0.012847206|78.59%

C9orf89
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_820 9 rs17593496
dbSNP Clinvar 		95872885 97.99 C T PASS 0/1 35 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.05950 0.05950 0.11333 None None None None None None C9orf89|0.045771213|63.96%

CA2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_820 8 rs703
dbSNP Clinvar 		86389403 412.92 T C PASS 0/1 86 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.57768 0.57770 0.35691 None None None None None None CA2|0.889108016|3.7%

CA4
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_820 17 . 58236706 114.03 CG CC,C PASS 1/2 15 FRAME_SHIFT HIGH None None None None None None None CA4|0.007648087|82.9%

CACNA1F
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_820 X . 49063265 20.93 CAAAA CA... PASS 0/1 14 FRAME_SHIFT HIGH None None None None None None None CACNA1F|0.172930076|39.96%

CAD
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_820 2 rs1141313
dbSNP Clinvar 		27460968 143.99 A G PASS 0/1 78 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.45467 0.45470 0.44987 None None None None None None CAD|0.237806166|32.61%
View sp16_multisample SP16_820 2 rs3739092
dbSNP Clinvar 		27462076 124.98 C T PASS 0/1 95 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.26558 0.26560 0.23405 None None None None None None CAD|0.237806166|32.61%

CAPN8
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_820 1 rs34606532
dbSNP Clinvar 		223722780 318.63 G A PASS 1/1 76 STOP_GAINED HIGH None 0.44349 0.44350 0.45642 None None None None None None CAPN8|0.042652474|64.89%

CARHSP1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_820 16 . 8953078 149.81 GCCC GC... PASS 1/2 21 FRAME_SHIFT HIGH None None None None None None None CARHSP1|0.085125444|54.13%

CASP12
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_820 11 rs497116
dbSNP Clinvar 		104763117 556.39 G A PASS 1/1 71 STOP_GAINED HIGH None 0.94848 0.94850 None None None None None None CASP12|0.001761043|91.65%

CASP8
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_820 2 rs3769824
dbSNP Clinvar 		202122956 138.3 T C PASS 0/1 49 START_LOST HIGH None 0.03454 0.03454 0.03279 0.00 None None None None None None CASP8|0.814767746|5.46%

CBR3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_820 21 rs881712
dbSNP Clinvar 		37507769 46.88 C T PASS 0/1 25 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.30851 0.30850 0.33905 None None None None None None CBR3|0.052541759|61.89%
View sp16_multisample SP16_820 21 rs881711
dbSNP Clinvar 		37507745 289.77 C T PASS 0/1 106 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.82029 0.82030 0.15339 None None None None None None CBR3|0.052541759|61.89%

CCDC105
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_820 19 . 15121685 20.49 TG... TG... PASS 0/1 11 FRAME_SHIFT HIGH None None None None None None None SLC1A6|0.083889024|54.45%,CCDC105|0.006191504|84.39%

CCDC144NL
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_820 17 rs79930314
dbSNP Clinvar 		20769899 46.78 G T PASS 0/1 84 STOP_GAINED HIGH None None None None None None None CCDC144NL|0.000779475|96.79%

CCDC169
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_820 13 rs9546785
dbSNP Clinvar 		36801415 963.21 C CT,T PASS 0/2 214 FRAME_SHIFT HIGH None 0.37760 0.37760 0.41196 None None None None None None SOHLH2|0.025487064|71.56%,CCDC169-SOHLH2|0.024786398|71.88%,CCDC169|0.01125788|79.84%

CCDC36
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_820 3 rs12631989
dbSNP Clinvar 		49273996 846.93 C CT,T PASS 1/2 105 FRAME_SHIFT+STOP_GAINED HIGH None 0.70547 0.70550 0.43980 None None None None None None CCDC36|0.007535564|83.03%

CCDC67
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_820 11 rs754307711
dbSNP Clinvar 		93141579 368.48 AC A,AA PASS 1/2 39 FRAME_SHIFT HIGH None None None None None None None CCDC67|0.162925952|41.17%

CD180
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_820 5 rs1697144
dbSNP Clinvar 		66480004 544.25 T C PASS 1/1 49 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.99501 0.99500 0.00008 0.57 0.00 None None None None None None CD180|0.02755401|70.63%

CD207
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_820 2 rs13383830
dbSNP Clinvar 		71058306 260.11 T C PASS 0/1 121 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.12959 0.12960 0.08711 0.04 0.73 None None None None None None CD207|0.004253024|86.68%
View sp16_multisample SP16_820 2 rs11450450,rs397692276
dbSNP Clinvar 		71062833 270.88 G GC PASS 1/1 52 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 0.00025 None None None None None None CD207|0.004253024|86.68%

CHD6
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_820 20 . 40162016 440.32 AT A,... PASS 1/1 59 FRAME_SHIFT HIGH None None None None None None None CHD6|0.425022636|19.36%

CHI3L1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_820 1 rs880633
dbSNP Clinvar 		203152801 654.15 T C PASS 0/1 99 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.37300 0.37300 0.41442 0.00 0.46 None None None None None None CHI3L1|0.048433283|63.15%

CHI3L2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_820 1 rs2494007
dbSNP Clinvar 		111783996 1497.77 A G PASS 1/1 157 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.99940 0.99940 0.00062 None None None None None None CHI3L2|0.012602272|78.81%

CHIA
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_820 1 rs2275253
dbSNP Clinvar 		111861841 161.32 A G PASS 0/1 67 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.65915 0.65910 0.27764 0.99 0.00 None None None None None None CHIA|0.03435619|67.66%

CHIT1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_820 1 rs150192398
dbSNP Clinvar 		203186950 50.0 C CA... PASS 0/1 200 STOP_GAINED+CODON_INSERTION HIGH None 0.28914 0.28910 None None None None None None CHIT1|0.011029404|80.05%

CILP
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_820 15 rs745516539
dbSNP Clinvar 		65494245 202.47 GC G PASS 1/1 84 FRAME_SHIFT HIGH None None None None None None None CILP|0.25593882|31.04%

CLDN5
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_820 22 rs885985
dbSNP Clinvar 		19511925 816.6 G A PASS 1/1 89 STOP_GAINED HIGH None 0.49681 0.49680 None None None None None None CLDN5|0.101200006|50.93%

CLRN2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_820 4 rs1551091
dbSNP Clinvar 		17517099 417.12 A G,AG PASS 2/1 68 FRAME_SHIFT HIGH None 0.98203 0.98200 0.02056 None None None None None None CLRN2|0.168605066|40.5%

CLTCL1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_820 22 rs11386977
dbSNP Clinvar 		19189003 362.65 A AC PASS 1/1 63 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 0.99980 0.99980 0.00051 None None None None None None CLTCL1|0.022666116|72.86%

COL18A1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_820 21 . 46924424 114.94 CC... CC... PASS 2/2 28 FRAME_SHIFT HIGH None None None None None None None COL18A1|0.045578537|64.02%,SLC19A1|0.006805855|83.69%

COL26A1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_820 7 rs36008849,rs398095266
dbSNP Clinvar 		101200669 437.82 A AG PASS 1/1 106 FRAME_SHIFT HIGH None 1.00000 1.00000 0.00137 None None None None None None COL26A1|0.059520302|60.03%

COMT
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_820 22 rs4818
dbSNP Clinvar 		19951207 43.16 C G PASS 0/1 14 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.29693 0.29690 0.32754 None None None None None None COMT|0.166055932|40.8%

CREB3L1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_820 11 rs79068197,rs386373762
dbSNP Clinvar 		46342259 443.22 A AG PASS 1/1 84 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 0.99980 0.99980 0.00042 None None None None None None CREB3L1|0.229770101|33.39%

CRYBA4
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_820 22 rs5761637
dbSNP Clinvar 		27021457 894.85 T C PASS 1/1 118 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.92372 0.92370 0.12663 None None None None None None CRYBA4|0.095204311|52.06%

CRYBB1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_820 22 . 27012206 295.51 GGCC GC... PASS 1/2 57 FRAME_SHIFT HIGH None None None None None None None CRYBB1|0.059157132|60.11%

CTD-3193O13.9
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_820 19 rs58971992
dbSNP Clinvar 		7938306 173.66 A AG PASS 1/1 32 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 0.99960 0.99960 None None None None None None None

CTPS2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_820 X . 16720916 462.36 ATG AT... PASS 1/2 54 FRAME_SHIFT HIGH None None None None None None None CTPS2|0.247337379|31.79%

CYFIP2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_820 5 rs5872508,rs397781034,rs397712438
dbSNP Clinvar 		156721863 829.63 T TC PASS 1/1 189 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 1.00000 1.00000 0.00203 None None None None None None CYFIP2|0.509393402|15.41%

CYP11B2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_820 8 rs4539
dbSNP Clinvar 		143996539 418.68 T C PASS 1/1 82 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.34645 0.34640 0.37660 0.58 0.03 None None None None None None GML|0.000127964|99.9%,CYP11B2|0.013075672|78.46%
View sp16_multisample SP16_820 8 rs4538
dbSNP Clinvar 		143994702 474.96 G T PASS 1/1 70 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.60763 0.60760 0.46585 None None None None None None GML|0.000127964|99.9%,CYP11B2|0.013075672|78.46%

CYP2B6
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_820 19 rs3745274
dbSNP Clinvar 		41512841 236.2 G T PASS 0/1 111 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.31570 0.31570 0.29040 0.37 0.01 None None None None None None CYP2B6|0.387124666|21.59%

CYP3A43
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_820 7 rs61469810
dbSNP Clinvar 		99434077 35.6 TA T PASS 0/1 64 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 0.10543 0.10540 0.10912 None None None None None None CYP3A43|0.206279007|35.98%

DAZAP1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_820 19 . 1434834 146.56 GGC G,GG PASS 1/1 32 FRAME_SHIFT HIGH None None None None None None None DAZAP1|0.105859696|50.04%

DCAF7
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_820 17 rs66502552,rs398031306
dbSNP Clinvar 		61660889 633.64 CG C PASS 1/1 167 FRAME_SHIFT HIGH None 1.00000 1.00000 0.00026 None None None None None None DCAF7|0.572121444|12.88%

DDI2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_820 1 . 15959970 35.0 AC A PASS 0/1 90 FRAME_SHIFT HIGH None None None None None None None DDI2|0.414934435|19.87%

DDX60
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_820 4 . 169227710 552.93 GA AG,G PASS 1/2 61 FRAME_SHIFT HIGH None None None None None None None DDX60|0.008612712|82.02%

DEFB126
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_820 20 rs11467417,rs386393058
dbSNP Clinvar 		126310 97.96 ACC A PASS 0/1 71 FRAME_SHIFT HIGH None 0.43378 None None None None None None DEFB126|0.000084056|99.96%

DLG1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_820 3 rs1134986
dbSNP Clinvar 		196865242 315.33 C T PASS 0/1 82 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.12800 0.12800 0.10597 0.18 0.02 None None None None None None DLG1|0.817144992|5.37%

DNAH17
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_820 17 . 76435291 110.73 GT G PASS 1/1 30 FRAME_SHIFT HIGH None None None None None None None DNAH17|0.043900967|64.55%

DNAH5
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_820 5 . 13885331 218.12 CT C PASS 1/1 52 FRAME_SHIFT HIGH None None None None None None None DNAH5|0.235040337|32.91%

DNAJC28
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_820 21 rs139852262,rs3834674
dbSNP Clinvar 		34860749 67.84 CA... C PASS 0/1 88 FRAME_SHIFT HIGH None 0.15176 0.15180 0.16323 None None None None None None DNAJC28|0.046400837|63.77%

DPP6
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_820 7 rs3807218
dbSNP Clinvar 		154461112 1011.71 A G PASS 1/1 110 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.79732 0.79730 0.16409 None None None None None None DPP6|0.155216903|42.27%

DPYSL2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_820 8 rs327222
dbSNP Clinvar 		26481771 786.05 T C PASS 1/1 106 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.93670 0.93670 0.04006 None None None None None None DPYSL2|0.481859756|16.66%

DTX4
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_820 11 . 58940187 304.13 CG... CG... PASS 1/1 44 FRAME_SHIFT HIGH None None None None None None None DTX4|0.13409479|45.25%

DUSP12
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_820 1 rs1063178
dbSNP Clinvar 		161721707 470.08 C T PASS 0/1 82 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.36002 0.36000 0.35399 None None None None None None DUSP12|0.090238655|53.19%

ECHDC3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_820 10 rs7899215
dbSNP Clinvar 		11797436 429.25 T C PASS 1/1 42 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.93131 0.93130 0.06366 None None None None None None ECHDC3|0.029496468|69.61%
View sp16_multisample SP16_820 10 rs10906011
dbSNP Clinvar 		11805357 170.91 G A PASS 0/1 42 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.51578 0.51580 0.45548 None None None None None None ECHDC3|0.029496468|69.61%

EFHB
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_820 3 rs2929366
dbSNP Clinvar 		19959756 1002.8 G A,GA PASS 1/2 113 FRAME_SHIFT HIGH None 0.61302 0.61300 0.28718 None None None None None None EFHB|0.023037599|72.7%

EI24
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_820 11 rs55912941,rs397812741
dbSNP Clinvar 		125452300 428.17 A AC PASS 1/1 93 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 0.99980 0.99980 0.00194 None None None None None None EI24|0.31494271|26.44%

EML3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_820 11 rs35156678
dbSNP Clinvar 		62369881 70.24 G A PASS 0/1 20 STOP_GAINED HIGH None 0.16554 0.16550 0.00153 None None None None None None EML3|0.147500051|43.38%

ENDOV
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sp16_multisample SP16_820 17 rs370977155
dbSNP Clinvar 		78395695 258.04 G A PASS 0/1 79 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.00879 0.00879 0.00008 0.00 1.00 None None None None None None ENDOV|0.017164071|75.74%