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Genes:
AATK, AC005609.1, ACAD10, ACAN, ADCY1, ADRA2A, AGAP2, AGBL5, ALMS1, ANKFN1, ANKRD28, ANKRD36, ANKRD36C, AP1M1, AQPEP, AR, ASB11, ASB12, ASB4, ASPN, ATN1, ATXN2, BAZ1B, BDH1, BHLHE40, BRD9, C16orf89, C16orf90, C19orf47, C1orf147, C2CD4B, CACNA1A, CAPG, CAPRIN1, CCDC23, CCDC33, CCDC74A, CCNA1, CDC27, CDH26, CENPL, CHCHD1, CIZ1, CLCN6, CLDN24, CLEC12A, CLIP1, CNTN2, CNTRL, COL18A1, CRB2, CRIP1, CROCC, CSGALNACT2, CTAGE1, CTBP2, CXXC1, CYP3A43, DCBLD1, DEFA6, DEGS2, DERL3, DNAH2, DNHD1, DQX1, EBF2, ECE2, EHBP1, EIF2AK3, ELAVL1, EML6, EPN1, EPN2, ERBB2IP, FAM102B, FAM131A, FAM155A, FAM160A1, FAM177B, FAM53C, FAM71B, FBF1, FBXO44, FBXO5, FFAR2, FLRT2, FMN2, FNDC1, FNDC3B, FOXE3, FRMPD1, GAB4, GCNT3, GOLGB1, GPR123, GPR133, GPR97, GPSM2, HAAO, HCN4, HECA, HECTD1, HECTD4, HEXDC, HIVEP3, HOXD3, HRNR, HTT, IFI35, IGSF3, ILK, IRF2BPL, ITGA10, ITIH1, KIAA1549, KIAA1549L, KIAA2018, KIF1A, KIF1C, KISS1, KRI1, KRT24, KRT27, KRT5, KRTAP10-2, KRTAP5-10, KTI12, LANCL3, LAT2, LCN9, LILRB1, LMAN1L, LONRF2, LRRC49, LRRN2, MAML2, MAP3K1, MAP3K4, MARK2, MBNL2, MCHR1, MESP2, MFGE8, MFSD7, MOBP, MOV10L1, MSL3, MTMR6, MUC16, MYF5, MYOM3, NFRKB, NID2, NLRP11, NOMO2, NOXA1, NPRL3, OR10H3, OR10S1, OR2A14, OR2F1, OR4C5, OR51I1, OR5H2, OR8U1, OR9G1, ORAI1, OTUD4, OVOL1, P2RX5, PDE5A, PEAK1, PHF20, PHLDA1, PIDD, PLEKHG3, POTED, PPAPDC1B, PRB3, PRDX3, PRKCSH, PROB1, PRSS3, PRUNE2, QRICH1, RAN, RARA, RBM14, RBM23, RBM48, RECK, RECQL4, RFPL3, RGL3, RP1-139D8.6, RP11-1220K2.2, SEC22C, SEC23IP, SEMA3G, SEMA5A, SEMA5B, SENP7, SETBP1, SHANK1, SHROOM3, SLC17A9, SLC22A25, SLC25A6, SLC37A4, SLC46A1, SLC5A4, SNTB1, SOGA1, SPATA7, SPEG, SPNS3, SSBP3-AS1, SUDS3, SZT2, TBC1D12, TCEAL3, TCF7, TECPR1, TENM3, TET2, TMEM120B, TMEM176B, TMIE, TNKS1BP1, TPRN, TRAF3IP1, TRAM1L1, TRAP1, TRBV11-1, TRIM36, TRMT2A, TRMT44, TSPEAR, TTYH2, TXNDC15, USP19, UXS1, VPS8, VRTN, WDR87, ZBTB22, ZBTB47, ZMAT3, ZNF384, ZNF407, ZNF432, ZNF44, ZNF462, ZNF484, ZNF536, ZNF546, ZNF567, ZNF594, ZNF623, ZNF709, ZNF717, ZNF862, ZSCAN25, ZSWIM8,

Genes at Omim

ACAN, ADCY1, AGBL5, ALMS1, AR, ASPN, ATN1, ATXN2, CACNA1A, CNTN2, COL18A1, CRB2, EHBP1, EIF2AK3, FMN2, FOXE3, GPSM2, HAAO, HCN4, HTT, IGSF3, IRF2BPL, KIF1A, KIF1C, KISS1, KRT5, MAML2, MAP3K1, MESP2, MYF5, NPRL3, ORAI1, PRKCSH, QRICH1, RARA, RECQL4, SETBP1, SLC17A9, SLC37A4, SLC46A1, SPATA7, SPEG, SZT2, TENM3, TET2, TMIE, TPRN, TRAF3IP1, TRIM36, TSPEAR,
ACAN ?Spondyloepiphyseal dysplasia, Kimberley type, 608361 (3)
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, 165800 (3)
Spondyloepimetaphyseal dysplasia, aggrecan type, 612813 (3)
ADCY1 ?Deafness, autosomal recessive 44, 610154 (3)
AGBL5 Retinitis pigmentosa 75, 617023 (3)
ALMS1 Alstrom syndrome, 203800 (3)
AR Androgen insensitivity, 300068 (3)
Androgen insensitivity, partial, with or without breast cancer, 312300 (3)
Hypospadias 1, X-linked, 300633 (3)
{Prostate cancer, susceptibility to}, 176807 (3)
Spinal and bulbar muscular atrophy of Kennedy, 313200 (3)
ASPN {Lumbar disc degeneration}, 603932 (3)
{Osteoarthritis susceptibility 3}, 607850 (3)
ATN1 Dentatorubro-pallidoluysian atrophy, 125370 (3)
ATXN2 {Parkinson disease, late-onset, susceptibility to}, 168600 (3)
Spinocerebellar ataxia 2, 183090 (3)
{Amyotrophic lateral sclerosis, susceptibility to, 13}, 183090 (3)
CACNA1A Epileptic encephalopathy, early infantile, 42, 617106 (3)
Episodic ataxia, type 2, 108500 (3)
Migraine, familial hemiplegic, 1, 141500 (3)
Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500 (3)
Spinocerebellar ataxia 6, 183086 (3)
CNTN2 ?Epilepsy, myoclonic, familial adult, 5, 615400 (3)
COL18A1 Knobloch syndrome, type 1, 267750 (3)
CRB2 Focal segmental glomerulosclerosis 9, 616220 (3)
Ventriculomegaly with cystic kidney disease, 219730 (3)
EHBP1 {Prostate cancer, hereditary, 12}, 611868 (3)
EIF2AK3 Wolcott-Rallison syndrome, 226980 (3)
FMN2 Mental retardation, autosomal recessive 47, 616193 (3)
FOXE3 Anterior segment dysgenesis 2, multiple subtypes, 610256 (3)
Cataract 34, multiple types, 612968 (3)
{Aortic aneurysm, familial thoracic 11, susceptibility to}, 617349 (3)
GPSM2 Chudley-McCullough syndrome, 604213 (3)
HAAO Vertebral, cardiac, renal, and limb defects syndrome 1, 617660 (3)
HCN4 Brugada syndrome 8, 613123 (3)
Sick sinus syndrome 2, 163800 (3)
HTT Huntington disease, 143100 (3)
Lopes-Maciel-Rodan syndrome, 617435 (3)
IGSF3 ?Lacrimal duct defect, 149700 (3)
IRF2BPL Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, 618088 (3)
KIF1A Mental retardation, autosomal dominant 9, 614255 (3)
Neuropathy, hereditary sensory, type IIC, 614213 (3)
Spastic paraplegia 30, autosomal recessive, 610357 (3)
KIF1C Spastic ataxia 2, autosomal recessive, 611302 (3)
KISS1 ?Hypogonadotropic hypogonadism 13 with or without anosmia, 614842 (3)
KRT5 Dowling-Degos disease 1, 179850 (3)
Epidermolysis bullosa simplex, Dowling-Meara type, 131760 (3)
Epidermolysis bullosa simplex, Koebner type, 131900 (3)
Epidermolysis bullosa simplex, Weber-Cockayne type, 131800 (3)
Epidermolysis bullosa simplex, recessive 1, 601001 (3)
Epidermolysis bullosa simplex-MCR, 609352 (3)
Epidermolysis bullosa simplex-MP, 131960 (3)
MAML2 Mucoepidermoid salivary gland carcinoma (3)
MAP3K1 46XY sex reversal 6, 613762 (3)
MESP2 Spondylocostal dysostosis 2, autosomal recessive, 608681 (3)
MYF5 Ophthalmoplegia, external, with rib and vertebral anomalies, 618155 (3)
NPRL3 Epilepsy, familial focal, with variable foci 3, 617118 (3)
ORAI1 Immunodeficiency 9, 612782 (3)
Myopathy, tubular aggregate, 2, 615883 (3)
PRKCSH Polycystic liver disease 1, 174050 (3)
QRICH1 Ververi-Brady syndrome, 617982 (3)
RARA Leukemia, acute promyelocytic, 612376 (1)
RECQL4 Baller-Gerold syndrome, 218600 (3)
RAPADILINO syndrome, 266280 (3)
Rothmund-Thomson syndrome, 268400 (3)
SETBP1 Mental retardation, autosomal dominant 29, 616078 (3)
Schinzel-Giedion midface retraction syndrome, 269150 (3)
SLC17A9 Porokeratosis 8, disseminated superficial actinic type, 616063 (3)
SLC37A4 Glycogen storage disease Ib, 232220 (3)
Glycogen storage disease Ic, 232240 (3)
SLC46A1 Folate malabsorption, hereditary, 229050 (3)
SPATA7 Leber congenital amaurosis 3, 604232 (3)
Retinitis pigmentosa, juvenile, autosomal recessive, 604232 (3)
SPEG Centronuclear myopathy 5, 615959 (3)
SZT2 Epileptic encephalopathy, early infantile, 18, 615476 (3)
TENM3 Microphthalmia, isolated, with coloboma 9, 615145 (3)
TET2 Myelodysplastic syndrome, somatic, 614286 (3)
TMIE Deafness, autosomal recessive 6, 600971 (3)
TPRN Deafness, autosomal recessive 79, 613307 (3)
TRAF3IP1 Senior-Loken syndrome 9, 616629 (3)
TRIM36 ?Anencephaly, 206500 (3)
TSPEAR Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis, 618180 (3)
?Deafness, autosomal recessive 98, 614861 (3)

Genes at Clinical Genomics Database

ACAN, ADCY1, ALMS1, AR, ATN1, ATXN2, CACNA1A, CIZ1, CNTN2, COL18A1, CRB2, EIF2AK3, FMN2, FOXE3, GPSM2, HCN4, HTT, IGSF3, KIF1A, KIF1C, KISS1, KRT5, MAP3K1, MESP2, ORAI1, PRKCSH, RECQL4, SETBP1, SLC17A9, SLC37A4, SLC46A1, SPATA7, SPEG, SZT2, TENM3, TMIE, TPRN, TRAF3IP1, TRAP1, TSPEAR,
ACAN Spondyloepimetaphyseal dysplasia, aggrecan type
Spondyloepiphyseal dysplasia, Kimberley type
Osteochondritis dissecans, short stature, and early-onset osteoarthritis
ADCY1 Deafness, autosomal dominant 44
ALMS1 Alstrom syndrome
AR Androgen insensitivity
Androgen insensitivity, partial
ATN1 Dentatorubro-pallidoluysian atrophy
ATXN2 Spinocerebellar ataxia 2
CACNA1A Episodic ataxia, type 2
Migraine, familial hemiplegic 1
CIZ1 Primary cervical dystonia, adult-onset
CNTN2 Epilepsy, familial adult myoclonic 5
COL18A1 Knobloch syndrome 1
CRB2 Focal segmental glomerulosclerosis 9
Ventriculomegaly with cystic kidney disease
EIF2AK3 Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus
Wolcott-Rallison syndrome
FMN2 Mental retardation, autosomal recessive, 47
FOXE3 Aphakia, congenital primary
Anterior segment mesenchymal dysgenesis
GPSM2 Chudley-McCullough syndrome
Deafness, autosomal recessive 82
HCN4 Brugada syndrome 8
Sick sinus syndrome 2
HTT Huntington disease
IGSF3 Lacrimal duct defect
KIF1A Mental retardation, autosomal dominant 9
Neuropathy, hereditary sensory, type IIC
Spastic paraplegia 30, autosomal recessive
KIF1C Spastic ataxia 2, autosomal recessive
KISS1 Hypogonadotropic hypogonadism 13 with or without anosmia
KRT5 Epidermolysis bullosa simplex with migratory circinate erythema
Epidermolysis bullosa simplex with mottled pigmentation
Dowling-Degos disease 1
Epidermolysis bullosa simplex, Koebner type
Epidermolysis bullosa simplex, Weber-Cockayne type
Epidermolysis bullosa simplex, Dowling-Meara type
MAP3K1 46,XY sex reversal 6
MESP2 Spondylocostal dysostosis 2, autosomal recessive
ORAI1 Immunodeficiency 9
PRKCSH Polycystic liver disease
RECQL4 Baller-Gerold syndrome
RAPADILINO syndrome
Rothmund-Thomson syndrome
SETBP1 Mental retardation, autosomal dominant 29
Schinzel-Giedion midface retraction syndrome
SLC17A9 Porokeratosis, disseminated superficial actinic, 8
SLC37A4 Glycogen storage disease Ib
Glycogen storage disease Ic
Glycogen storage disease Id
SLC46A1 Folate malabsorption, hereditary
SPATA7 Leber congenital amaurosis 3
Retitinitis pigmentosa, juvenile, SPATA7-related
SPEG Centronuclear myopathy 5
SZT2 Epileptic encephalopathy, early infantile, 18
TENM3 Microphthalmia, isolated, with coloboma 9
TMIE Deafness, autosomal recessive 6
TPRN Deafness, autosomal recessive 79
TRAF3IP1 Senior-Loken syndrome 9
TRAP1 Congenital abnormalities of the kidney and urinary tract
VACTERL association
TSPEAR Deafness, autosomal recessive 98

Genes at HGMD

Summary

Number of Variants: 867
Number of Genes: 264

Export to: CSV

AATK

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 13ac00301-2_s1 genome 17 . 79096994 9.3 C T LowGQX 0/1 4 STOP_GAINED+SPLICE_SITE_REGION HIGH None None None None None None None AATK|0.00450864|86.39%
View 13ac00301-2_s1 genome 17 . 79096284 9.3 G T LowGQX 0/1 4 SYNONYMOUS_CODING LOW None None None None None None None AATK|0.00450864|86.39%

AC005609.1

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 13ac00301-2_s1 genome 5 . 140242452 0.0 C . LowGQX . 0 FRAME_SHIFT HIGH None 0.63079 0.63080 None None None None None None PCDHA1|0.053770874|61.55%,PCDHA2|0.022057729|73.14%,PCDHA3|0.065561586|58.47%,PCDHA4|0.052208094|62.01%,PCDHA5|0.043866789|64.55%,PCDHA6|0.050872533|62.4%,PCDHA7|0.028518768|70.18%,PCDHA8|0.015875262|76.54%,PCDHA9|0.018630148|74.91%,PCDHA10|0.087661567|53.69%

ACAD10

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 13ac00301-2_s1 genome 12 . 112182513 9.3 G C LowGQX 0/1 4 NON_SYNONYMOUS_CODING MODERATE None 0.02 0.08 None None None None None None ACAD10|0.026374196|71.16%

ACAN

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 13ac00301-2_s1 genome 15 . 89402496 21.59 A G LowGQX 0/1 10 NON_SYNONYMOUS_CODING MODERATE None 0.98 0.19 None None None None None None ACAN|0.017538305|75.58%

ADCY1

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 13ac00301-2_s1 genome 7 . 45744123 9.3 G T LowGQX 0/1 4 STOP_GAINED HIGH None None None None None None None ADCY1|0.149696441|43.08%

ADRA2A

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 13ac00301-2_s1 genome 10 rs1022355353
dbSNP Clinvar
112838810 9.3 G A LowGQX 0/1 3 SYNONYMOUS_CODING LOW None None None None None None None ADRA2A|0.119282208|47.55%

AGAP2

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 13ac00301-2_s1 genome 12 . 58124683 9.3 G T LowGQX 0/1 4 SYNONYMOUS_CODING LOW None None None None None None None AGAP2|0.196777896|37.07%

AGBL5

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 13ac00301-2_s1 genome 2 rs11681145
dbSNP Clinvar
27290525 9.24 A G LowGQX 0/1 3 None None None 0.64177 0.64180 0.41027 None None None None None None AGBL5|0.277996777|29.26%

ALMS1

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 13ac00301-2_s1 genome 2 . 73613034 0.0 A . LowGQX . 22 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.76597 0.76600 None None None None None None ALMS1|0.012791041|78.65%
View 13ac00301-2_s1 genome 2 . 73613033 0.0 G . LowGQX . 23 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.76597 0.76600 None None None None None None ALMS1|0.012791041|78.65%
View 13ac00301-2_s1 genome 2 . 73613032 0.0 G . LowGQX . 23 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.76597 0.76600 None None None None None None ALMS1|0.012791041|78.65%
View 13ac00301-2_s1 genome 2 . 73613036 0.0 G . LowGQX . 22 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.76597 0.76600 None None None None None None ALMS1|0.012791041|78.65%
View 13ac00301-2_s1 genome 2 . 73613037 0.0 A . LowGQX . 22 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.76597 0.76600 None None None None None None ALMS1|0.012791041|78.65%
View 13ac00301-2_s1 genome 2 . 73613035 0.0 G . LowGQX . 22 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.76597 0.76600 None None None None None None ALMS1|0.012791041|78.65%

ANKFN1

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 13ac00301-2_s1 genome 17 . 54431379 9.3 G T LowGQX 0/1 4 SYNONYMOUS_CODING LOW None None None None None None None ANKFN1|0.698610051|8.53%

ANKRD28

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 13ac00301-2_s1 genome 3 . 15726814 9.3 G A LowGQX 0/1 4 STOP_GAINED HIGH None None None None None None None ANKRD28|0.433008795|19.04%

ANKRD36

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 13ac00301-2_s1 genome 2 rs146414302
dbSNP Clinvar
97909739 9.18 G A LowGQX 0/1 3 SYNONYMOUS_CODING LOW None None None None None None None ANKRD36|0.001192347|94.46%

ANKRD36C

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 13ac00301-2_s1 genome 2 rs62156872
dbSNP Clinvar
96517885 9.18 G A LowGQX 0/1 3 SYNONYMOUS_CODING LOW None 0.00639 0.00639 None None None None None None ANKRD36C|0.001406745|93.3%
View 13ac00301-2_s1 genome 2 rs76943414
dbSNP Clinvar
96617106 9.3 A C LowGQX 0/1 3 SYNONYMOUS_CODING LOW None None None None None None None ANKRD36C|0.001406745|93.3%
View 13ac00301-2_s1 genome 2 rs5005870
dbSNP Clinvar
96521220 9.29 G A LowGQX 0/1 3 SYNONYMOUS_CODING LOW None None None None None None None ANKRD36C|0.001406745|93.3%

AP1M1

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 13ac00301-2_s1 genome 19 . 16338959 9.3 G T LowGQX 0/1 3 NON_SYNONYMOUS_CODING MODERATE None 0.02 0.96 None None None None None None AP1M1|0.058029862|60.39%

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 13ac00301-2_s1 genome 5 rs10078759
dbSNP Clinvar
115341638 9.3 G C LowGQX 0/1 3 NON_SYNONYMOUS_CODING MODERATE None 0.18292 0.02 0.59 None None None None None None None

AR

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 13ac00301-2_s1 genome X . 66765160 0.0 C . LowGQX . 110 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None AR|0.999436019|0.35%
View 13ac00301-2_s1 genome X . 66765159 0.0 G . LowGQX . 110 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None AR|0.999436019|0.35%
View 13ac00301-2_s1 genome X . 66765164 0.0 A . LowGQX . 147 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None AR|0.999436019|0.35%
View 13ac00301-2_s1 genome X . 66765163 0.0 C . LowGQX . 146 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None AR|0.999436019|0.35%
View 13ac00301-2_s1 genome X . 66765162 0.0 G . LowGQX . 144 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None AR|0.999436019|0.35%
View 13ac00301-2_s1 genome X . 66765161 0.0 A . LowGQX . 107 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None AR|0.999436019|0.35%

ASB11

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 13ac00301-2_s1 genome X . 15320891 9.3 C A LowGQX 0/1 3 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.45 0.03 None None None None None None ASB11|0.151540693|42.75%

ASB12

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 13ac00301-2_s1 genome X . 63444817 9.3 C A LowGQX 0/1 3 NON_SYNONYMOUS_CODING MODERATE None 0.25 0.99 None None None None None None ASB12|0.05455441|61.32%,MTMR8|0.017673392|75.49%

ASB4

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 13ac00301-2_s1 genome 7 . 95167058 9.29 G T LowGQX 0/1 4 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.99 None None None None None None ASB4|0.113591299|48.56%

ASPN

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 13ac00301-2_s1 genome 9 . 95237026 0.0 C . LowGQX . 74 CODON_INSERTION MODERATE None None None None None None None CENPP|0.015429847|76.86%,ASPN|0.415784887|19.83%
View 13ac00301-2_s1 genome 9 . 95237027 0.0 A . LowGQX . 74 CODON_INSERTION MODERATE None None None None None None None CENPP|0.015429847|76.86%,ASPN|0.415784887|19.83%
View 13ac00301-2_s1 genome 9 . 95237025 0.0 T . LowGQX . 75 CODON_INSERTION MODERATE None None None None None None None CENPP|0.015429847|76.86%,ASPN|0.415784887|19.83%

ATN1

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 13ac00301-2_s1 genome 12 . 7045895 0.0 C . LowGQX . 31 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None ATN1|0.702926343|8.41%
View 13ac00301-2_s1 genome 12 . 7045892 0.0 C . LowGQX . 35 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None ATN1|0.702926343|8.41%
View 13ac00301-2_s1 genome 12 . 7045912 0.0 G . LowGQX . 79 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None ATN1|0.702926343|8.41%
View 13ac00301-2_s1 genome 12 . 7045893 0.0 A . LowGQX . 34 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None ATN1|0.702926343|8.41%
View 13ac00301-2_s1 genome 12 . 7045911 0.0 A . LowGQX . 79 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None ATN1|0.702926343|8.41%
View 13ac00301-2_s1 genome 12 . 7045910 0.0 C . LowGQX . 78 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None ATN1|0.702926343|8.41%
View 13ac00301-2_s1 genome 12 . 7045909 0.0 G . LowGQX . 72 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None ATN1|0.702926343|8.41%
View 13ac00301-2_s1 genome 12 . 7045908 0.0 A . LowGQX . 72 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None ATN1|0.702926343|8.41%
View 13ac00301-2_s1 genome 12 . 7045894 0.0 G . LowGQX . 33 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None ATN1|0.702926343|8.41%
View 13ac00301-2_s1 genome 12 . 7045907 0.0 C . LowGQX . 73 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None ATN1|0.702926343|8.41%
View 13ac00301-2_s1 genome 12 . 7045906 0.0 G . LowGQX . 27 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None ATN1|0.702926343|8.41%
View 13ac00301-2_s1 genome 12 . 7045905 0.0 A . LowGQX . 28 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None ATN1|0.702926343|8.41%
View 13ac00301-2_s1 genome 12 . 7045904 0.0 C . LowGQX . 28 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None ATN1|0.702926343|8.41%
View 13ac00301-2_s1 genome 12 . 7045903 0.0 G . LowGQX . 31 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None ATN1|0.702926343|8.41%
View 13ac00301-2_s1 genome 12 . 7045902 0.0 A . LowGQX . 31 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None ATN1|0.702926343|8.41%
View 13ac00301-2_s1 genome 12 . 7045901 0.0 C . LowGQX . 31 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None ATN1|0.702926343|8.41%
View 13ac00301-2_s1 genome 12 . 7045900 0.0 G . LowGQX . 31 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None ATN1|0.702926343|8.41%
View 13ac00301-2_s1 genome 12 . 7045899 0.0 A . LowGQX . 31 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None ATN1|0.702926343|8.41%
View 13ac00301-2_s1 genome 12 . 7045898 0.0 C . LowGQX . 31 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None ATN1|0.702926343|8.41%
View 13ac00301-2_s1 genome 12 . 7045897 0.0 G . LowGQX . 31 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None ATN1|0.702926343|8.41%
View 13ac00301-2_s1 genome 12 . 7045896 0.0 A . LowGQX . 31 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None ATN1|0.702926343|8.41%

ATXN2

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 13ac00301-2_s1 genome 12 . 112036756 0.0 T . LowGQX . 5 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.95108 0.95110 0.09190 None None None None None None ATXN2|0.872313714|4.16%
View 13ac00301-2_s1 genome 12 . 112036754 0.0 G . LowGQX . 6 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.95108 0.95110 0.09190 None None None None None None ATXN2|0.872313714|4.16%
View 13ac00301-2_s1 genome 12 . 112036755 0.0 C . LowGQX . 5 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.95108 0.95110 0.09190 None None None None None None ATXN2|0.872313714|4.16%

BAZ1B

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 13ac00301-2_s1 genome 7 . 72861690 9.29 C A LowGQX 0/1 3 NON_SYNONYMOUS_CODING MODERATE None 0.70 0.02 None None None None None None BAZ1B|0.356018071|23.74%

BDH1

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 13ac00301-2_s1 genome 3 . 197238991 9.3 G T LowGQX 0/1 4 SYNONYMOUS_CODING LOW None None None None None None None BDH1|0.126065757|46.47%

BHLHE40

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 13ac00301-2_s1 genome 3 rs908078
dbSNP Clinvar
5024771 9.3 T C LowGQX 0/1 4 SYNONYMOUS_CODING LOW None 0.15795 0.15790 0.13240 None None None None None None BHLHE40|0.430176201|19.13%

BRD9

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 13ac00301-2_s1 genome 5 rs508016
dbSNP Clinvar
878525 9.3 T A LowGQX 0/1 3 NON_SYNONYMOUS_CODING MODERATE None 0.14 0.00 None None None None None None BRD9|0.030893639|69.01%

C16orf89

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 13ac00301-2_s1 genome 16 . 5108558 9.3 G T LowGQX 0/1 3 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.95 None None None None None None ALG1|0.0336465|67.9%,C16orf89|0.005419562|85.31%

C16orf90

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 13ac00301-2_s1 genome 16 . 3543959 9.3 C A LowGQX 0/1 4 NON_SYNONYMOUS_CODING MODERATE None 0.01 0.90 None None None None None None C16orf90|0.093266814|52.54%

C19orf47

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 13ac00301-2_s1 genome 19 . 40828228 9.3 G T LowGQX 0/1 3 NON_SYNONYMOUS_CODING MODERATE None 0.21 0.11 None None None None None None C19orf47|0.105883404|50.02%

C1orf147

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 13ac00301-2_s1 genome 1 rs781862896
dbSNP Clinvar
206665849 9.3 G T LowGQX 0/1 4 NON_SYNONYMOUS_CODING MODERATE None 0.83 None None None None None None IKBKE|0.163093757|41.13%,C1orf147|0.000333634|99.28%

C2CD4B

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 13ac00301-2_s1 genome 15 rs929135339
dbSNP Clinvar
62457121 9.3 G T LowGQX 0/1 3 NON_SYNONYMOUS_CODING MODERATE None 0.03 0.95 None None None None None None C2CD4B|0.005504333|85.2%

CACNA1A

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 13ac00301-2_s1 genome 19 . 13409400 9.3 T C LowGQX 0/1 3 NON_SYNONYMOUS_CODING MODERATE None 0.91 None None None None None None CACNA1A|0.210424701|35.52%

CAPG

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 13ac00301-2_s1 genome 2 rs375419436
dbSNP Clinvar
85628397 9.25 A G LowGQX 0/1 4 NON_SYNONYMOUS_CODING MODERATE None 0.06 0.00 None None None None None None CAPG|0.167090325|40.65%

CAPRIN1

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 13ac00301-2_s1 genome 11 . 34118199 9.3 G T LowGQX 0/1 4 NON_SYNONYMOUS_CODING MODERATE None 0.00 1.00 None None None None None None CAPRIN1|0.636562416|10.57%

CCDC23

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 13ac00301-2_s1 genome 1 . 43282123 9.3 C T LowGQX 0/1 3 SYNONYMOUS_CODING LOW None None None None None None None CCDC23|0.268369432|30%

CCDC33

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 13ac00301-2_s1 genome 15 rs199782040
dbSNP Clinvar
74536404 9.28 A G LowGQX 0/1 4 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.80 None None None None None None CCDC33|0.011870787|79.31%

CCDC74A

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 13ac00301-2_s1 genome 2 rs569398337
dbSNP Clinvar
132290240 9.3 G A LowGQX 0/1 4 SYNONYMOUS_CODING LOW None 0.00020 0.00020 None None None None None None CCDC74A|0.002342397|90.07%

CCNA1

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 13ac00301-2_s1 genome 13 . 37007299 9.3 C A LowGQX 0/1 3 NON_SYNONYMOUS_CODING MODERATE None 0.24 0.09 None None None None None None CCNA1|0.232786992|33.13%

CDC27

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 13ac00301-2_s1 genome 17 rs77440865
dbSNP Clinvar
45221286 9.3 C T LowGQX 0/1 4 NON_SYNONYMOUS_CODING MODERATE None 0.01 0.92 None None None None None None CDC27|0.658499283|9.78%
View 13ac00301-2_s1 genome 17 rs77739281
dbSNP Clinvar
45221318 9.3 A C LowGQX 0/1 4 NON_SYNONYMOUS_CODING MODERATE None 0.23 0.02 None None None None None None CDC27|0.658499283|9.78%
View 13ac00301-2_s1 genome 17 rs76836956
dbSNP Clinvar
45221303 9.28 G A LowGQX 0/1 4 SYNONYMOUS_CODING LOW None 0.00020 0.00020 None None None None None None CDC27|0.658499283|9.78%
View 13ac00301-2_s1 genome 17 rs80120716
dbSNP Clinvar
45221298 9.3 A G LowGQX 0/1 4 NON_SYNONYMOUS_CODING MODERATE None 0.32 0.00 None None None None None None CDC27|0.658499283|9.78%
View 13ac00301-2_s1 genome 17 rs1141701
dbSNP Clinvar
45221273 9.3 A C LowGQX 0/1 4 NON_SYNONYMOUS_CODING MODERATE None 0.13 0.86 None None None None None None CDC27|0.658499283|9.78%

CDH26

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 13ac00301-2_s1 genome 20 rs141771925
dbSNP Clinvar
58570995 9.29 G A LowGQX 0/1 3 NON_SYNONYMOUS_CODING MODERATE None 0.00180 0.00180 0.00169 0.20 0.60 None None None None None None CDH26|0.000365756|99.16%

CENPL

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 13ac00301-2_s1 genome 1 . 173775705 8.82 A G LowGQX 0/1 3 SYNONYMOUS_CODING LOW None None None None None None None CENPL|0.267598592|30.06%

CHCHD1

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 13ac00301-2_s1 genome 10 . 75542927 9.3 C A LowGQX 0/1 4 NON_SYNONYMOUS_CODING MODERATE None 0.01 0.91 None None None None None None CHCHD1|0.156245317|42.12%

CIZ1

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 13ac00301-2_s1 genome 9 . 130942721 9.3 G T LowGQX 0/1 3 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.80 None None None None None None CIZ1|0.021318339|73.52%
View 13ac00301-2_s1 genome 9 . 130942740 9.3 G T LowGQX 0/1 4 NON_SYNONYMOUS_CODING MODERATE None 0.01 1.00 None None None None None None CIZ1|0.021318339|73.52%

CLCN6

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 13ac00301-2_s1 genome 1 . 11896202 9.29 A G LowGQX 0/1 4 NON_SYNONYMOUS_CODING MODERATE None 0.30 0.00 None None None None None None CLCN6|0.226395258|33.73%

CLDN24

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 13ac00301-2_s1 genome 4 . 184242934 9.29 C A LowGQX 0/1 3 NON_SYNONYMOUS_CODING MODERATE None 0.14 0.02 None None None None None None CLDN24|0.012623495|78.8%

CLEC12A

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 13ac00301-2_s1 genome 12 . 10137500 9.3 A T LowGQX 0/1 4 NON_SYNONYMOUS_CODING MODERATE None 0.27 0.01 None None None None None None CLEC12A|0.000649991|97.54%

CLIP1

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 13ac00301-2_s1 genome 12 . 122773053 9.3 C A LowGQX 0/1 4 NON_SYNONYMOUS_CODING MODERATE None 0.06 0.99 None None None None None None CLIP1|0.65719402|9.83%
View 13ac00301-2_s1 genome 12 . 122845511 9.3 C A LowGQX 0/1 4 STOP_GAINED HIGH None None None None None None None CLIP1|0.65719402|9.83%

CNTN2

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 13ac00301-2_s1 genome 1 . 205028726 9.29 C A LowGQX 0/1 3 NON_SYNONYMOUS_CODING MODERATE None 0.25 0.13 None None None None None None CNTN2|0.410798215|20.14%

CNTRL

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 13ac00301-2_s1 genome 9 . 123929805 9.3 C A LowGQX 0/1 4 SYNONYMOUS_CODING LOW None None None None None None None CNTRL|0.185268471|38.32%

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 13ac00301-2_s1 genome 21 . 46924430 0.0 C . LowGQX . 96 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None COL18A1|0.045578537|64.02%,SLC19A1|0.006805855|83.69%
View 13ac00301-2_s1 genome 21 . 46924426 0.0 G . LowGQX . 100 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None COL18A1|0.045578537|64.02%,SLC19A1|0.006805855|83.69%
View 13ac00301-2_s1 genome 21 . 46924427 0.0 G . LowGQX . 99 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None COL18A1|0.045578537|64.02%,SLC19A1|0.006805855|83.69%
View 13ac00301-2_s1 genome 21 . 46924428 0.0 C . LowGQX . 101 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None COL18A1|0.045578537|64.02%,SLC19A1|0.006805855|83.69%
View 13ac00301-2_s1 genome 21 . 46924429 0.0 C . LowGQX . 100 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None COL18A1|0.045578537|64.02%,SLC19A1|0.006805855|83.69%
View 13ac00301-2_s1 genome 21 . 46924431 0.0 C . LowGQX . 91 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None COL18A1|0.045578537|64.02%,SLC19A1|0.006805855|83.69%
View 13ac00301-2_s1 genome 21 . 46924432 0.0 C . LowGQX . 90 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None COL18A1|0.045578537|64.02%,SLC19A1|0.006805855|83.69%
View 13ac00301-2_s1 genome 21 . 46924433 0.0 C . LowGQX . 89 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None COL18A1|0.045578537|64.02%,SLC19A1|0.006805855|83.69%