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Genes:
ABCC5, AC096644.1, ACPT, ACSF2, ADAL, ADAMTSL4, ADCY8, AGAP1, AIM1L, ANAPC1, ANKRD36, ANKRD36C, ANO7, ANXA9, AQPEP, ARHGAP26, ARHGEF7, ARID4B, ARMC3, ASAP2, ASIC5, ATF1, ATP11A, ATP12A, ATP2A3, ATP6V0A2, ATP8B1, ATP8B3, B3GALTL, BECN1, BGN, BRWD1, C17orf49, C1orf192, C20orf96, CABP5, CAND2, CAPN2, CBWD1, CCDC144NL, CCDC68, CCND1, CCND2, CDC27, CELA3B, CEP290, CEP89, CHAF1A, CLEC2D, CNOT6, COG3, COL16A1, COL22A1, COL4A4, COL5A3, COL6A5, COPE, CPSF3L, CREB3L4, CREBRF, CSMD1, CSNK1G1, CYP11B1, DBH, DDR1, DGKA, DLG5, DNAJC16, DSP, DYSF, EHMT1, EHMT2, EIF4B, ELMSAN1, FAF1, FAM182B, FAM198A, FAM3B, FANCD2, FCRLB, FHAD1, FKBP2, FLNB, FLOT1, FMNL2, FRG1, FRG1B, GAB4, GALP, GAREML, GCOM1, GDPD2, GEMIN5, GIPC1, GLTPD2, GNG8, GPATCH1, GPD1, GRAMD1A, GRIK4, GRM6, HABP4, HAUS6, HCLS1, HEATR1, HEATR4, HEG1, HLA-A, HLA-B, HLA-C, HLA-DPA1, HLA-DRB1, HLA-F, HPS5, HTRA4, INPP4B, IRAK1BP1, IRAK3, IRGQ, ITGA1, ITGA11, ITGA5, ITPR1, KIAA1731, KRT75, LGI4, LHFPL3, LIG1, LPHN3, LRP1, LRP1B, LRP2, LRPAP1, LRRC16A, LTBP1, LTBP4, MALRD1, MASP2, MAST1, MAT2B, MBTPS2, MCOLN1, MCTP1, MEF2A, MGAM, MLF1, MMEL1, MROH2A, MRPL30, MS4A7, MTMR7, MUC12, MUC16, MUC2, MUC3A, MYH13, MYH7, MYO1B, NAAA, NAV1, NAV2, NAV3, NCAPD2, NCAPG, NCKAP1, NDNF, NEB, NECAB1, NEK10, NEURL4, NID2, NLRP13, NMS, NUP85, OBSL1, OC90, ODF2, OSER1, PARP4, PARVB, PDLIM3, PGS1, PI4KA, PIEZO1, PIH1D1, PITRM1, PIWIL4, PLCB1, PLCD3, PLXNA2, PLXNB2, POLR2A, PPIL2, PRKCG, PRRC1, PRSS3, PRSS55, PSG8, PTK2B, PTPRA, PXDN, RAB15, RAB44, RAP1GAP2, RCBTB2, REC8, RIC3, RNF212, RP11-105C20.2, RP11-80A15.1, RYR3, SDHA, SEC14L6, SFTA2, SH3YL1, SIRPA, SIRPB1, SLC12A2, SLC22A7, SLC34A3, SLC44A5, SLC7A11, SLC7A7, SLCO4C1, SMARCAD1, SPTB, SRGAP2, SUPT16H, TEC, TLE4, TMED4, TMEM184B, TNFRSF8, TNNI2, TOM1, TRBV5-6, TRPM5, TSC1, TSPAN5, TTC40, TTL, UBA6, USO1, USP33, VAV3, VCAN, VPS41, VPS8, WASH4P, WDR64, XPO5, ZAN, ZC3H11A, ZFAND5, ZNF131, ZNF419, ZNF609,

Genes at Omim

ACPT, ADAMTSL4, ARHGAP26, ATP6V0A2, ATP8B1, BGN, CCND1, CCND2, CEP290, COL4A4, CYP11B1, DBH, DSP, DYSF, EHMT1, FANCD2, FLNB, GPD1, GRM6, HLA-A, HLA-B, HLA-C, HLA-DRB1, HPS5, IRAK3, ITPR1, KRT75, LGI4, LRP1, LRP2, LRPAP1, LTBP4, MASP2, MAST1, MBTPS2, MCOLN1, MEF2A, MLF1, MYH7, NCAPD2, NEB, NUP85, OBSL1, PI4KA, PIEZO1, PLCB1, PRKCG, PXDN, RNF212, SDHA, SLC34A3, SLC7A7, SMARCAD1, SPTB, TEC, TNNI2, TSC1, VCAN,
ACPT Amelogenesis imperfecta, type IJ, 617297 (3)
ADAMTSL4 Ectopia lentis et pupillae, 225200 (3)
Ectopia lentis, isolated, autosomal recessive, 225100 (3)
ARHGAP26 Leukemia, juvenile myelomonocytic, somatic, 607785 (3)
ATP6V0A2 Cutis laxa, autosomal recessive, type IIA, 219200 (3)
Wrinkly skin syndrome, 278250 (3)
ATP8B1 Cholestasis, benign recurrent intrahepatic, 243300 (3)
Cholestasis, intrahepatic, of pregnancy, 1, 147480 (3)
Cholestasis, progressive familial intrahepatic 1, 211600 (3)
BGN Meester-Loeys syndrome, 300989 (3)
Spondyloepimetaphyseal dysplasia, X-linked, 300106 (3)
CCND1 {Multiple myeloma, susceptibility to}, 254500 (3)
{von Hippel-Lindau syndrome, modifier of}, 193300 (3)
{Colorectal cancer, susceptibility to}, 114500 (3)
CCND2 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, 615938 (3)
CEP290 Joubert syndrome 5, 610188 (3)
Leber congenital amaurosis 10, 611755 (3)
Meckel syndrome 4, 611134 (3)
?Bardet-Biedl syndrome 14, 615991 (3)
Senior-Loken syndrome 6, 610189 (3)
COL4A4 Alport syndrome 2, autosomal recessive, 203780 (3)
Hematuria, familial benign, 141200 (3)
CYP11B1 Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, 202010 (3)
Aldosteronism, glucocorticoid-remediable, 103900 (3)
DBH Orthostatic hypotension 1, due to DBH deficiency, 223360 (3)
DSP Arrhythmogenic right ventricular dysplasia 8, 607450 (3)
Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676 (3)
Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, 615821 (3)
Epidermolysis bullosa, lethal acantholytic, 609638 (3)
Keratosis palmoplantaris striata II, 612908 (3)
Skin fragility-woolly hair syndrome, 607655 (3)
DYSF Miyoshi muscular dystrophy 1, 254130 (3)
Muscular dystrophy, limb-girdle, autosomal recessive 2, 253601 (3)
Myopathy, distal, with anterior tibial onset, 606768 (3)
EHMT1 Kleefstra syndrome 1, 610253 (3)
FANCD2 Fanconi anemia, complementation group D2, 227646 (3)
FLNB Atelosteogenesis, type I, 108720 (3)
Atelosteogenesis, type III, 108721 (3)
Boomerang dysplasia, 112310 (3)
Larsen syndrome, 150250 (3)
Spondylocarpotarsal synostosis syndrome, 272460 (3)
GPD1 Hypertriglyceridemia, transient infantile, 614480 (3)
GRM6 Night blindness, congenital stationary (complete), 1B, autosomal recessive, 257270 (3)
HLA-A {Hypersensitivity syndrome, carbamazepine-induced, susceptibility to}, 608579 (3)
HLA-B {Spondyloarthropathy, susceptibility to, 1}, 106300 (3)
{Stevens-Johnson syndrome, susceptibility to}, 608579 (3)
{Synovitis, chronic, susceptibility to} (3)
{Toxic epidermal necrolysis, susceptibility to}, 608579 (3)
{Abacavir hypersensitivity, susceptibility to} (3)
{Drug-induced liver injury due to flucloxacillin} (3)
HLA-C {HIV-1 viremia, susceptibility to}, 609423 (3)
{Psoriasis susceptibility 1}, 177900 (3)
HLA-DRB1 {Multiple sclerosis, susceptibility to, 1}, 126200 (3)
{Sarcoidosis, susceptibility to, 1}, 181000 (3)
HPS5 Hermansky-Pudlak syndrome 5, 614074 (3)
IRAK3 {Asthma susceptibility 5}, 611064 (3)
ITPR1 Gillespie syndrome, 206700 (3)
Spinocerebellar ataxia 15, 606658 (3)
Spinocerebellar ataxia 29, congenital nonprogressive, 117360 (3)
KRT75 {Pseudofolliculitis barbae, susceptibility to}, 612318 (3)
LGI4 Arthrogryposis multiplex congenita, neurogenic, with myelin defect, 617468 (3)
LRP1 ?Keratosis pilaris atrophicans, 604093 (3)
LRP2 Donnai-Barrow syndrome, 222448 (3)
LRPAP1 Myopia 23, autosomal recessive, 615431 (3)
LTBP4 Cutis laxa, autosomal recessive, type IC, 613177 (3)
MASP2 MASP2 deficiency, 613791 (3)
MAST1 Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, 618273 (3)
MBTPS2 IFAP syndrome with or without BRESHECK syndrome, 308205 (3)
Keratosis follicularis spinulosa decalvans, X-linked, 308800 (3)
Osteogenesis imperfecta, type XIX, 301014 (3)
?Olmsted syndrome, X-linked, 300918 (3)
MCOLN1 Mucolipidosis IV, 252650 (3)
MEF2A {Coronary artery disease, autosomal dominant, 1}, 608320 (3)
MLF1 Leukemia, acute myeloid, 601626 (1)
MYH7 Cardiomyopathy, dilated, 1S, 613426 (3)
Cardiomyopathy, hypertrophic, 1, 192600 (3)
Laing distal myopathy, 160500 (3)
Left ventricular noncompaction 5, 613426 (3)
Myopathy, myosin storage, autosomal dominant, 608358 (3)
Myopathy, myosin storage, autosomal recessive, 255160 (3)
Scapuloperoneal syndrome, myopathic type, 181430 (3)
NCAPD2 ?Microcephaly 21, primary, autosomal recessive, 617983 (3)
NEB Nemaline myopathy 2, autosomal recessive, 256030 (3)
NUP85 Nephrotic syndrome, type 17, 618176 (3)
OBSL1 3-M syndrome 2, 612921 (3)
PI4KA Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, 616531 (3)
PIEZO1 Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380 (3)
Lymphatic malformation 6, 616843 (3)
PLCB1 Epileptic encephalopathy, early infantile, 12, 613722 (3)
PRKCG Spinocerebellar ataxia 14, 605361 (3)
PXDN Anterior segment dysgenesis 7, with sclerocornea, 269400 (3)
RNF212 Recombination rate QTL 1, 612042 (3)
SDHA Cardiomyopathy, dilated, 1GG, 613642 (3)
Leigh syndrome, 256000 (3)
Mitochondrial respiratory chain complex II deficiency, 252011 (3)
Paragangliomas 5, 614165 (3)
SLC34A3 Hypophosphatemic rickets with hypercalciuria, 241530 (3)
SLC7A7 Lysinuric protein intolerance, 222700 (3)
SMARCAD1 Adermatoglyphia, 136000 (3)
Basan syndrome, 129200 (3)
Huriez syndrome, 181600 (3)
SPTB Anemia, neonatal hemolytic, fatal or near-fatal, 617948 (3)
Elliptocytosis-3, 617948 (3)
Spherocytosis, type 2, 616649 (3)
TEC Transient erythroblastopenia of childhood (2)
TNNI2 Arthrogryposis multiplex congenita, distal, type 2B, 601680 (3)
TSC1 Focal cortical dysplasia, type II, somatic, 607341 (3)
Lymphangioleiomyomatosis, 606690 (3)
Tuberous sclerosis-1, 191100 (3)
VCAN Wagner syndrome 1, 143200 (3)

Genes at Clinical Genomics Database

ADAMTSL4, ATP6V0A2, ATP8B1, CCND2, CEP290, COL4A4, CYP11B1, DBH, DSP, DYSF, EHMT1, FANCD2, FLNB, GPD1, GRIK4, GRM6, HLA-A, HLA-B, HPS5, ITPR1, KRT75, LRP1, LRP2, LRPAP1, LTBP4, MASP2, MBTPS2, MCOLN1, MYH7, NEB, OBSL1, PI4KA, PIEZO1, PLCB1, PRKCG, PXDN, SDHA, SLC34A3, SLC7A7, SMARCAD1, SPTB, TNNI2, TSC1, VCAN,
ADAMTSL4 Ectopia lentis, isolated, autosomal recessive
ATP6V0A2 Cutis laxa, autosomal recessive, type IIA
Wrinkly skin syndrome
ATP8B1 Familial intrahepatic cholestasis, recurrent
Cholestasis, progressive familial intrahepatic 1
Intrahepatic cholestasis of pregnancy
CCND2 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
CEP290 Leber congenital amaurosis 10
Meckel syndrome 4
Senior-Loken syndrome 6
Joubert syndrome 5
Bardet-Biedl syndrome 14
COL4A4 Alport syndrome, autosomal recessive
CYP11B1 Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency
Glucocorticoid-remediable aldosteronism
DBH Dopamine beta-hydroxylase deficiency
DSP Arrhythmogenic right ventricular dysplasia, familial 8
Cardiomyopathy, dilated, with wooly hair and keratoderma
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
DYSF Miyoshi muscular dystrophy 1
Muscular dystrophy, limb-girdle, type 2B
Myopathy, distal, with anterior tibial onset
EHMT1 Kleefstra syndrome
FANCD2 Fanconi anemia, complementation group D2
FLNB Larsen syndrome
Spondylocarpotarsal synostosis syndrome
Boomerang dysplasia
Atelosteogenesis, type I
Atelosteogenesis, type III
GPD1 Hypertriglyceridemia, transient infantile
GRIK4 Response to antidepressant treatment with citalopram
GRM6 Night blindness, congenital stationary, type 1B
HLA-A Drug-induced toxicity, susceptibility to
HLA-B Drug-induced toxicity, susceptibility to
HPS5 Hermansky-Pudlak syndrome 5
ITPR1 Spinocerebellar ataxia 15
Spinocerebellar ataxia 29
KRT75 Pseudofolliculitis barbae
LRP1 Schizophrenia
LRP2 Donnai-Barrow syndrome
Faciooculoacousticorenal syndrome
LRPAP1 Myopia 23, autosomal recessive
LTBP4 Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities
MASP2 MASP2 deficiency
MBTPS2 Keratosis follicularis spinulosa decalvans, X-linked
IFAP syndrome with or without BRESHECK syndrome
Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked
MCOLN1 Mucolipidosis IV
MYH7 Cardiomyopathy, dilated, 1S
Cardiomyopathy, familial hypertrophic
Myopathy, distal
Myopathy, myosin storage, autosomal recessive
NEB Nemaline myopathy 2
OBSL1 Three M syndrome 2
PI4KA Perisylvian polymicrogyria, cerebellar hypoplasia, and arthrogryposis
PIEZO1 Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
PLCB1 Epileptic encephalopathy, early infantile, 12
PRKCG Spinocerebellar ataxia 14
PXDN Corneal opacification with other ocular anomalies
SDHA Paragangliomas 5
Gastrointestinal stromal tumors
Cardiomyopathy, dilated, 1GG
Leigh syndrome/Mitochondrial respiratory chain complex II deficiency
SLC34A3 Hypophosphatemic rickets with hypercalciuria, hereditary
SLC7A7 Lysinuric protein intolerance
SMARCAD1 Adermatoglyphia
SPTB Spherocytosis, type 2
Ellipsocytosis, type 3
Anemia, neonatal hemolytic
TNNI2 Arthrogryposis multiplex congenita, distal, type 2B
TSC1 Tuberous sclerosis
Lymphangioleiomyomatosis
VCAN Wagner syndrome 1

Genes at HGMD

Summary

Number of Variants: 265
Number of Genes: 257

Export to: CSV

ABCC5

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 combined sample_94.variant39 3 rs7636910
dbSNP Clinvar
183699516 494.71 T C PASS 1/1 52 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.33427 0.33430 0.34194 None None None None None None ABCC5|0.264803016|30.31%

AC096644.1

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 combined sample_94.variant39 1 rs1361256
dbSNP Clinvar
220607685 1654.53 G A PASS 1/1 69 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.81010 0.81010 None None None None None None None

ACPT

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 19 rs2162784
dbSNP Clinvar
51293955 803.63 G A PASS 0/1 65 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.09964 0.09964 0.08964 None None None None None None ACPT|0.016239372|76.31%

ACSF2

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 combined sample_94.variant39 17 rs2305998
dbSNP Clinvar
48549791 739.41 C G PASS 0/1 66 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.18570 0.18570 0.24427 None None None None None None ACSF2|0.036236332|67.04%

ADAL

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 combined sample_94.variant39 15 rs2278857
dbSNP Clinvar
43632549 2321.83 T C PASS 1/1 83 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.53914 0.53910 0.48339 None None None None None None ADAL|0.343367733|24.61%

ADAMTSL4

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 combined sample_94.variant39 1 rs12095798
dbSNP Clinvar
150527109 443.83 T C PASS 0/1 75 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.04972 0.04972 None None None None None None ADAMTSL4|0.034322056|67.68%

ADCY8

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 combined sample_94.variant39 8 rs12547243
dbSNP Clinvar
131921956 4817.36 A G PASS 1/1 143 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.54473 0.54470 0.42642 None None None None None None ADCY8|0.569570608|13.01%

AGAP1

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 combined sample_94.variant39 2 rs2292708
dbSNP Clinvar
236708166 1684.66 C T PASS 0/1 165 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.19169 0.19170 0.21506 None None None None None None AGAP1|0.457547319|17.79%

AIM1L

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 combined sample_94.variant39 1 rs11247919
dbSNP Clinvar
26664968 1004.89 C T PASS 0/1 86 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.28614 0.28610 0.42081 None None None None None None AIM1L|0.109158012|49.38%

ANAPC1

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 combined sample_94.variant39 2 rs4848197
dbSNP Clinvar
112605302 270.87 C T PASS 0/1 11 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.56250 0.56250 None None None None None None ANAPC1|0.14646446|43.53%

ANKRD36

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 combined sample_94.variant39 2 rs5008284
dbSNP Clinvar
97833342 546.62 G A PASS 0/1 70 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None None None None None None None ANKRD36|0.001192347|94.46%

ANKRD36C

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 combined sample_94.variant39 2 rs62153754
dbSNP Clinvar
96601364 556.89 C T PASS 0/1 77 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.00 0.00 None None None None None None ANKRD36C|0.001406745|93.3%

ANO7

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 combined sample_94.variant39 2 rs2074840
dbSNP Clinvar
242141719 1932.98 C T PASS 1/1 65 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.41474 0.41470 0.36491 None None None None None None ANO7|0.004152604|86.8%

ANXA9

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 combined sample_94.variant39 1 rs7532008
dbSNP Clinvar
150960350 511.02 A C PASS 1/1 54 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.49181 0.49180 0.35315 None None None None None None ANXA9|0.051149554|62.29%

AQPEP

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 combined sample_94.variant39 5 rs10078748
dbSNP Clinvar
115341611 3480.76 G T PASS 1/1 83 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.77676 0.77680 0.18315 None None None None None None None

ARHGAP26

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 combined sample_94.variant39 5 rs258819
dbSNP Clinvar
142593652 586.73 C T PASS 1/1 32 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.99641 0.99640 0.00377 None None None None None None ARHGAP26|0.689373516|8.81%

ARHGEF7

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 combined sample_94.variant39 13 rs41275140
dbSNP Clinvar
111870226 702.64 C T PASS 0/1 76 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.00260 0.00260 0.00823 None None None None None None ARHGEF7|0.333638476|25.2%

ARID4B

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 combined sample_94.variant39 1 rs12731746
dbSNP Clinvar
235392546 1212.75 T C PASS 1/1 39 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.44868 0.44870 0.46463 None None None None None None ARID4B|0.332554915|25.29%

ARMC3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 10 rs11817610
dbSNP Clinvar
23297301 754.05 C T PASS 0/1 81 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.50000 0.50000 0.47916 None None None None None None ARMC3|0.037067211|66.75%

ASAP2

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 combined sample_94.variant39 2 rs6728908
dbSNP Clinvar
9533774 257.57 G A PASS 0/1 25 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.08646 0.08646 0.07536 None None None None None None ASAP2|0.13561317|45.03%

ASIC5

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 combined sample_94.variant39 4 rs6848883
dbSNP Clinvar
156787340 4583.3 G A PASS 1/1 101 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.84844 0.84840 0.16333 None None None None None None ASIC5|0.031479338|68.79%,TDO2|0.067292674|58.09%

ATF1

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 combined sample_94.variant39 12 rs1129406
dbSNP Clinvar
51203371 1867.15 C T PASS 0/1 111 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.39337 0.39340 0.44687 None None None None None None ATF1|0.419687385|19.6%

ATP11A

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 combined sample_94.variant39 13 rs1290177
dbSNP Clinvar
113536132 2197.72 T C PASS 0/1 102 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.56490 0.56490 0.46179 None None None None None None ATP11A|0.13314168|45.42%

ATP12A

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 combined sample_94.variant39 13 rs7981616
dbSNP Clinvar
25265103 1115.52 A G PASS 0/1 115 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.29533 0.29530 0.20437 None None None None None None ATP12A|0.195110246|37.26%

ATP2A3

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 combined sample_94.variant39 17 rs3179783
dbSNP Clinvar
3840928 1545.25 A G PASS 0/1 129 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.20747 0.20750 0.24189 None None None None None None ATP2A3|0.0615045|59.44%

ATP6V0A2

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 combined sample_94.variant39 12 rs7135542
dbSNP Clinvar
124229429 2448.64 T C PASS 1/1 245 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.79952 0.79950 0.30463 None None None None None None ATP6V0A2|0.124260234|46.77%

ATP8B1

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 combined sample_94.variant39 18 rs319438
dbSNP Clinvar
55364852 1298.94 A G PASS 1/1 34 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.99461 0.99460 0.00692 None None None None None None ATP8B1|0.161108429|41.4%

ATP8B3

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 combined sample_94.variant39 19 rs3764606
dbSNP Clinvar
1784944 604.02 A G PASS 0/1 59 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.42951 0.42950 0.47849 None None None None None None ATP8B3|0.003576519|87.64%

B3GALTL

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 combined sample_94.variant39 13 rs4943266
dbSNP Clinvar
31821992 1879.73 T C PASS 0/1 40 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.97544 0.97540 0.03601 None None None None None None B3GALTL|0.110722838|49.06%

BECN1

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 combined sample_94.variant39 17 rs77552925
dbSNP Clinvar
40970241 1758.56 A T PASS 0/1 141 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.00719 0.00719 0.00730 None None None None None None BECN1|0.872814445|4.14%

BGN

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 combined sample_94.variant39 X rs2070933
dbSNP Clinvar
152771533 2988.03 C T PASS 0/1 145 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.05722 0.05722 0.03844 None None None None None None BGN|0.555214937|13.51%

BRWD1

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 combined sample_94.variant39 21 rs60360876
dbSNP Clinvar
40650670 1199.97 A G PASS 0/1 119 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.06070 0.06070 0.05897 None None None None None None BRWD1|0.163713366|41.06%

C17orf49

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 combined sample_94.variant39 17 rs14309
dbSNP Clinvar
6919093 1020.16 T C PASS 1/1 136 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.75739 0.75740 0.22774 None None None None None None RNASEK-C17orf49|0.371919774|22.61%,C17orf49|0.341426499|24.73%

C1orf192

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 combined sample_94.variant39 1 rs78888650
dbSNP Clinvar
161336289 1632.64 A G PASS 0/1 100 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.00339 0.00340 0.00185 None None None None None None CFAP126|0.048785226|63.02%

C20orf96

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 combined sample_94.variant39 20 rs7271033
dbSNP Clinvar
259969 5472.4 G C PASS 0/1 250 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.66853 0.66850 0.36299 None None None None None None C20orf96|0.00266282|89.34%

CABP5

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 combined sample_94.variant39 19 rs8105198
dbSNP Clinvar
48543862 2557.34 G A PASS 0/1 81 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.78674 0.78670 0.22897 None None None None None None CABP5|0.074903985|56.31%

CAND2

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 combined sample_94.variant39 3 rs4684883
dbSNP Clinvar
12861586 708.39 T C PASS 0/1 84 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.14836 0.14840 0.13982 None None None None None None CAND2|0.05381052|61.53%

CAPN2

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 combined sample_94.variant39 1 rs17596
dbSNP Clinvar
223905532 2095.33 G A PASS 0/1 89 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.59545 0.59540 0.33746 None None None None None None CAPN2|0.174674652|39.7%

CBWD1

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 combined sample_94.variant39 9 . 154795 2395.91 T C PASS 1/1 81 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.78694 0.23615 None None None None None None CBWD1|0.029140848|69.81%

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 combined sample_94.variant39 17 rs8073465
dbSNP Clinvar
20798992 3464.43 C T PASS 0/1 311 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.09924 0.09924 0.11110 None None None None None None CCDC144NL|0.000779475|96.79%

CCDC68

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 combined sample_94.variant39 18 rs1344011
dbSNP Clinvar
52605188 927.02 C T PASS 1/1 19 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.17792 0.17790 0.16800 None None None None None None CCDC68|0.06035994|59.77%

CCND1

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 combined sample_94.variant39 11 rs9344
dbSNP Clinvar
69462910 27299.3 G A PASS 0/1 898 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.41354 0.41350 0.38674 None None None None None None CCND1|0.99996103|0.13%

CCND2

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 combined sample_94.variant39 12 rs3217805
dbSNP Clinvar
4388084 949.42 C G PASS 0/1 149 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.21985 0.21980 0.32631 None None None None None None CCND2|0.94794487|2.32%

CDC27

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 combined sample_94.variant39 17 rs148497428
dbSNP Clinvar
45234749 428.09 A C PASS 0/1 62 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None None None None None None None CDC27|0.658499283|9.78%

CELA3B

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 combined sample_94.variant39 1 rs1803531
dbSNP Clinvar
22310824 982.03 T C PASS 1/1 46 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.89317 0.89320 0.05368 None None None None None None CELA3B|0.015617411|76.71%

CEP290

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 combined sample_94.variant39 12 rs45465996
dbSNP Clinvar
88505633 800.05 A G PASS 0/1 96 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.06889 0.06889 0.13844 None None None None None None CEP290|0.560411435|13.34%

CEP89

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 combined sample_94.variant39 19 rs10411735
dbSNP Clinvar
33444707 2180.75 C T PASS 1/1 83 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.39836 0.39840 0.35007 None None None None None None CEP89|0.007695004|82.86%

CHAF1A

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 combined sample_94.variant39 19 rs2230636
dbSNP Clinvar
4409756 869.99 A G PASS 0/1 106 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.13818 0.13820 0.19391 None None None None None None CHAF1A|0.043730551|64.6%

CLEC2D

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 combined sample_94.variant39 12 rs3764021
dbSNP Clinvar
9833628 1048.02 C T PASS 1/1 72 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.46466 0.46470 0.49831 None None None None None None CLEC2D|0.000737719|97.09%

CNOT6

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 combined sample_94.variant39 5 rs6877400
dbSNP Clinvar
179996111 3765.88 C T PASS 1/1 101 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.14647 None None None None None None CNOT6|0.652785136|9.99%

COG3

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 combined sample_94.variant39 13 rs3014960
dbSNP Clinvar
46077381 1061.95 G A PASS 1/1 34 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.90336 0.90340 0.09573 None None None None None None COG3|0.283875936|28.81%

COL16A1

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 combined sample_94.variant39 1 rs2228550
dbSNP Clinvar
32164206 2865.37 T G PASS 0/1 78 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.62580 0.62580 0.30447 None None None None None None COL16A1|0.160017905|41.54%

COL22A1

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 combined sample_94.variant39 8 rs77613350
dbSNP Clinvar
139712355 1794.26 G A PASS 0/1 124 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.03355 0.03355 0.03122 None None None None None None COL22A1|0.06710202|58.12%

COL4A4

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 combined sample_94.variant39 2 rs2228556
dbSNP Clinvar
227892619 843.12 C T PASS 0/1 71 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.49181 0.49180 0.45464 None None None None None None COL4A4|0.099677436|51.24%

COL5A3

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 combined sample_94.variant39 19 rs1559186
dbSNP Clinvar
10106936 176.69 G C PASS 0/1 22 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.39497 0.39500 0.41921 None None None None None None COL5A3|0.039580114|65.88%

COL6A5

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 combined sample_94.variant39 3 rs10212372
dbSNP Clinvar
130104206 273.57 A G PASS 0/1 26 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.40176 0.40180 None None None None None None COL6A5|0.015397469|76.88%

COPE

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 combined sample_94.variant39 19 rs3177137
dbSNP Clinvar
19023853 2843.0 T C PASS 1/1 109 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.35004 0.35000 0.44303 None None None None None None COPE|0.199133085|36.81%

CPSF3L

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 combined sample_94.variant39 1 . 1257289 1012.93 T C DRAGENHardSNP 0/1 247 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None None None None None None None CPSF3L|0.282030759|28.96%

CREB3L4

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 combined sample_94.variant39 1 rs757798554
dbSNP Clinvar
153946191 1177.75 A T PASS 0/1 74 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None None None None None None None CREB3L4|0.068445481|57.85%

CREBRF

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 combined sample_94.variant39 5 rs1129146
dbSNP Clinvar
172550204 1157.95 C T PASS 0/1 133 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.15336 0.15340 0.14386 None None None None None None CREBRF|0.460655673|17.64%

CSMD1

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 combined sample_94.variant39 8 rs667859
dbSNP Clinvar
2820745 951.68 G C PASS 0/1 108 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.43470 0.43470 0.36771 None None None None None None CSMD1|0.119480951|47.53%

CSNK1G1

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 combined sample_94.variant39 15 rs6494466
dbSNP Clinvar
64508763 1150.24 G A PASS 0/1 85 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.48542 0.48540 0.46202 None None None None None None CSNK1G1|0.679298986|9.11%

CYP11B1

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 combined sample_94.variant39 8 rs7818826
dbSNP Clinvar
143959250 482.87 T C PASS 1/1 113 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.59105 0.59110 None None None None None None GML|0.000127964|99.9%,CYP11B1|0.016882471|75.94%

DBH

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 combined sample_94.variant39 9 rs1108580
dbSNP Clinvar
136505114 1091.31 A G PASS 0/1 108 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.42991 0.42990 0.42680 None None None None None None DBH|0.089974085|53.24%

DDR1

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 combined sample_94.variant39 6 rs147091812
dbSNP Clinvar
30865372 895.71 C T PASS 0/1 104 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.00339 0.00340 0.00493 None None None None None None DDR1|0.244168042|32.07%

DGKA

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 combined sample_94.variant39 12 rs1136082
dbSNP Clinvar
56335107 2091.5 A G PASS 1/1 153 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.84764 0.84760 0.14663 None None None None None None DGKA|0.088457304|53.54%

DLG5

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 combined sample_94.variant39 10 rs1248634
dbSNP Clinvar
79579222 1455.14 G A PASS 0/1 49 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.25539 0.25540 0.22690 None None None None None None DLG5|0.1770919|39.42%

DNAJC16

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 combined sample_94.variant39 1 rs2236215
dbSNP Clinvar
15892415 570.15 A C PASS 1/1 34 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.28814 0.28810 0.35876 None None None None None None DNAJC16|0.148396459|43.23%

DSP

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 6 rs1016835
dbSNP Clinvar
7576527 1940.96 G A PASS 1/1 65 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.73542 0.73540 0.25188 None None None None None None DSP|0.573194355|12.87%

DYSF

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 2 rs2303606
dbSNP Clinvar
71838597 1397.38 C A PASS 0/1 119 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.44948 0.44950 0.47155 None None None None None None DYSF|0.429167677|19.17%

EHMT1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 9 rs45450992
dbSNP Clinvar
140648742 229.96 C T PASS 1/1 31 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.05651 0.05651 0.07820 None None None None None None EHMT1|0.048999784|62.96%

EHMT2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 6 rs535586
dbSNP Clinvar
31860337 1891.17 T C PASS 1/1 167 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.83327 0.83330 0.25190 None None None None None None EHMT2|0.178387468|39.23%

EIF4B

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 12 rs8916
dbSNP Clinvar
53433486 989.79 C T PASS 1/1 17 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.75379 0.75380 0.19484 None None None None None None EIF4B|0.258261547|30.89%

ELMSAN1

Omim - GeneCards - NCBI
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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 combined sample_94.variant39 14 rs2075025
dbSNP Clinvar
74196686 2213.61 T C PASS 1/1 192 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.60403 0.60400 0.44585 None None None None None None ELMSAN1|0.126163876|46.42%

FAF1

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 combined sample_94.variant39 1 rs11205753
dbSNP Clinvar
51121198 655.01 T C PASS 0/1 69 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.09225 0.09225 0.09826 None None None None None None FAF1|0.957930886|2.02%

FAM182B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 20 rs75063166
dbSNP Clinvar
25829342 5706.97 T C PASS 0/1 549 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None None None None None None None FAM182B|0.001507273|92.73%

FAM198A

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 combined sample_94.variant39 3 rs658958
dbSNP Clinvar
43073761 3580.06 G A PASS 1/1 206 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.43830 0.43830 0.38371 None None None None None None FAM198A|0.022008467|73.15%

FAM3B

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 combined sample_94.variant39 21 rs417708
dbSNP Clinvar
42717662 1073.83 T C PASS 1/1 25 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.91154 0.91150 0.11256 None None None None None None FAM3B|0.008580766|82.07%

FANCD2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 3 rs72492997
dbSNP Clinvar
10088266 747.45 G T PASS 0/1 86 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None None None None None None None FANCD2|0.244996414|32.01%

FCRLB

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 combined sample_94.variant39 1 rs11585450
dbSNP Clinvar
161696782 1298.61 G C PASS 0/1 72 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.31450 0.31450 0.36719 None None None None None None FCRLB|0.028697664|70.08%

FHAD1

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 combined sample_94.variant39 1 rs75432354
dbSNP Clinvar
15599025 519.07 G A PASS 0/1 21 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.12760 0.12760 0.12352 None None None None None None FHAD1|0.011540707|79.54%

FKBP2

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 combined sample_94.variant39 11 rs654573
dbSNP Clinvar
64011441 2058.91 T C PASS 1/1 83 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.97684 0.97680 0.02039 None None None None None None FKBP2|0.081255498|54.93%

FLNB

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 combined sample_94.variant39 3 rs2362904
dbSNP Clinvar
58112488 894.76 C T PASS 0/1 53 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.64856 0.64860 0.40243 None None None None None None FLNB|0.587014407|12.25%

FLOT1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 6 rs1136719
dbSNP Clinvar
30695920 2503.47 C T PASS 0/1 140 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.09465 0.09465 0.07773 None None None None None None FLOT1|0.24612893|31.91%

FMNL2

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 combined sample_94.variant39 2 rs4664114
dbSNP Clinvar
153378459 967.03 T C PASS 1/1 91 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.69070 0.69070 0.34572 None None None None None None FMNL2|0.571016453|12.93%

FRG1

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 combined sample_94.variant39 4 rs75112782
dbSNP Clinvar
190881992 115.64 T C PASS 0/1 28 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None None None None None None None FRG1|0.098149242|51.5%

FRG1B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 20 rs80066412
dbSNP Clinvar
29625984 190.78 T C PASS 0/1 117 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None None None None None None None FRG1B|0.009509512|81.26%

GAB4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_94.variant39 22 rs4819925
dbSNP Clinvar
17446991 124.45 C T PASS 1/1 27 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.82528 0.82530 0.18408 None None None None None None GAB4|0.003932508|87.14%

GALP

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 combined sample_94.variant39 19 rs575756
dbSNP Clinvar
56694505 1724.75 C T PASS 0/1 144 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.31450 0.31450 0.31509 None None None None None None GALP|0.001865738|91.36%

GAREML

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 combined sample_94.variant39 2 rs4665830
dbSNP Clinvar
26399214 472.82 G A PASS 0/1 119 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.81170 0.81170 0.26456 None None None None None None GAREML|0.097511197|51.62%

GCOM1

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 combined sample_94.variant39 15 rs2958059
dbSNP Clinvar
57918090 2394.88 A G PASS 1/1 73 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 1.00000 1.00000 None None None None None None GCOM1|0.172662114|39.98%,MYZAP|0.150722079|42.86%,POLR2M|0.038007903|66.46%

GDPD2

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 combined sample_94.variant39 X rs2296542
dbSNP Clinvar
69652762 1806.85 A G PASS 1/1 113 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.85192 0.85190 0.17012 None None None None None None GDPD2|0.107206407|49.75%

GEMIN5

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 combined sample_94.variant39 5 rs816736
dbSNP Clinvar
154271948 4731.57 G A PASS 1/1 209 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.95148 0.95150 0.04767 None None None None None None GEMIN5|0.180064442|39.04%

GIPC1

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 combined sample_94.variant39 19 rs1127307
dbSNP Clinvar
14589378 1933.51 C T PASS 0/1 188 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.24820 0.24820 0.22851 None None None None None None GIPC1|0.183215507|38.63%

GLTPD2

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 combined sample_94.variant39 17 rs12951761
dbSNP Clinvar
4693054 3416.63 G A PASS 0/1 263 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.51258 0.51260 0.44769 None None None None None None GLTPD2|0.006085441|84.48%

GNG8

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 combined sample_94.variant39 19 rs12974613
dbSNP Clinvar
47137459 3843.35 C T PASS 0/1 125 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.21106 0.21110 0.32257 None None None None None None GNG8|0.153964917|42.42%

GPATCH1

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 combined sample_94.variant39 19 rs2287681
dbSNP Clinvar
33608733 1192.12 C A PASS 0/1 95 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.36142 0.36140 0.25050 None None None None None None GPATCH1|0.063745069|58.94%

GPD1

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 combined sample_94.variant39 12 . 50501809 188.36 C A PASS 0/1 49 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None None None None None None None GPD1|0.247841281|31.74%

GRAMD1A

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 combined sample_94.variant39 19 rs2290647
dbSNP Clinvar
35506729 3711.6 G A PASS 0/1 116 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.25539 0.25540 0.30418 None None None None None None GRAMD1A|0.103950782|50.42%

GRIK4

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 combined sample_94.variant39 11 rs2156634
dbSNP Clinvar
120776001 2998.21 G A PASS 1/1 141 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.87800 0.87800 0.11927 None None None None None None GRIK4|0.59773792|11.84%