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+ Genes 322

Genes:
ABCA6, AC106876.2, ACR, ACTR1B, ADAT3, ADCK2, AFMID, AGBL1, AHCTF1, AHNAK2, ALDH9A1, ALG9, ALMS1, ALPK1, AMIGO1, ANHX, ANKDD1A, ANKRA2, ANKRD36, ANKRD36C, ANKS3, ANPEP, APOBEC3H, AR, ARAP1, ARHGEF17, ARHGEF40, ARID1B, ARNT2, ASCL1, ASIC4, ASPN, ATP6V0D1, ATXN2, BAI1, BCAR3, BCL2L12, BSN, C11orf89, C16orf95, C21orf59, C2orf54, CACNA1B, CARS, CBX1, CCDC169-SOHLH2, CCDC88B, CD37, CD3EAP, CD99, CDC25B, CDH2, CERS1, CNN1, CNTROB, COL18A1, CREB3L4, CRTC2, CTBP2, CTSA, DAGLA, DBNDD2, DCHS1, DEK, DGKQ, DHRS7B, DHRSX, DNAH1, DNAH10OS, DNAJA3, DNHD1, DUSP16, DUSP27, EFCAB6, EIF2AK3, EML3, ERCC6L, ERVFRD-1, EXOSC4, FAM136A, FAM160A1, FAM171B, FAM208B, FAM46B, FAM83G, FAR2, FBF1, FBLN2, FBXO30, FBXO5, FEZF1, FHAD1, FKBP8, FLJ00104, FMN2, FRG2C, GCN1L1, GDI2, GGA3, GGNBP2, GGT6, GIGYF2, GIT2, GLB1, GLP2R, GMEB2, GNAO1, GNL1, GP5, GPC2, GPCPD1, GPR112, GPR113, GPT2, GRHL3, GSTM1, GSTM5, GTPBP1, GTPBP2, GUCA2B, HEATR6, HELZ2, HNRNPL, HTT, HYDIN, IGLON5, IGLV4-3, IGSF10, ILK, INADL, INO80D, IRGQ, IRS2, ITGA1, KIAA1551, KIAA2018, KIF1A, KIF2C, KIF4A, KLHL17, KMT2B, KNTC1, KRT10, LILRA6, LRRN3, LZTS3, MAGED2, MAGI1, MAML3, MAP3K11, MAP3K4, MCF2, MEGF8, MESP2, METTL5, MINOS1, MLXIP, MMP19, MOS, MPHOSPH9, MPRIP, MROH2A, MSGN1, MUC12, MUC16, MUC3A, MVP, MYH10, MYO15B, NBPF10, NBPF12, NCOA4, NEK6, NFE2, NFKB2, NOTCH4, NPTXR, NPY4R, NUMBL, NXPE1, NYNRIN, OGT, OPRL1, OR4C46, ORAI1, P2RX5, PAK4, PANX3, PCDHGA6, PCDHGC5, PDE4DIP, PDE5A, PHLDA1, PIEZO1, PIGQ, PIK3C2G, PKMYT1, PLB1, PLCXD1, PLCZ1, PLEKHG2, PLXNB3, PODN, POLR3E, PPFIA4, PPP1R12C, PRB3, PRKCDBP, PRKCE, PRSS3, PRSS55, PSIP1, PSMB7, PTCRA, PTH2, PTK2B, PTPRQ, PTPRS, PXMP2, QRICH2, RALY, RASGEF1C, RBAK-RBAKDN, RBFOX2, RBM33, RCOR3, RECQL4, RGL4, RGS3, RIC8A, RIPPLY1, RNF128, RNF214, RP11-1407O15.2, RP11-45H22.3, RP11-683L23.1, RPS14, RPS21, RPUSD1, SBF1, SCN5A, SCN7A, SEPT5, SESN1, SHC3, SHISA5, SLC35B4, SLC37A4, SLC39A1, SLC43A1, SLC46A1, SLC51A, SLC6A17, SMTN, SMTNL2, SOCS7, SOX18, SPATA31E1, SPATA7, SPEG, SPN, SPNS3, SPTY2D1, SRF, SRL, ST8SIA4, STK32C, STX18, STXBP5L, SZT2, TBL2, TBP, TCFL5, TDRD15, TEX11, TGIF1, TICRR, TIMM50, TINAGL1, TLE3, TMCO6, TMEM89, TMIE, TNNC2, TNRC18, TOE1, TOP3A, TRBV7-4, TRGV8, TSHZ3, TTC6, TUBA3D, VASN, VPS41, VRTN, VSTM1, VWA5B1, WDR6, WDR90, WNT8A, ZAN, ZBTB5, ZC3H12B, ZDHHC18, ZFP62, ZFPM1, ZIC5, ZNF10, ZNF259, ZNF384, ZNF408, ZNF480, ZNF516, ZNF541, ZNF571, ZNF622, ZNF655, ZNF697, ZNF717, ZNF850, ZNF91, ZYX,

+ Genes associated with diseases 67

Genes at Omim

ACR, ADAT3, AGBL1, ALG9, ALMS1, AR, ARID1B, ARNT2, ASCL1, ASPN, ATXN2, C21orf59, CACNA1B, CERS1, COL18A1, CTSA, DCHS1, DEK, DNAH1, EIF2AK3, FEZF1, FMN2, GIGYF2, GLB1, GNAO1, GPT2, GRHL3, GTPBP2, HTT, HYDIN, IRS2, KIF1A, KIF4A, KMT2B, KRT10, MAGED2, MEGF8, MESP2, MMP19, NFKB2, OGT, ORAI1, PIEZO1, PLCZ1, PLEKHG2, PTPRQ, QRICH2, RECQL4, RPS14, SBF1, SCN5A, SLC37A4, SLC46A1, SLC6A17, SOX18, SPATA7, SPEG, SZT2, TBP, TEX11, TGIF1, TIMM50, TMIE, TOE1, TOP3A, TUBA3D, ZNF408,
ACR ?Male infertility due to acrosin deficiency (2)
ADAT3 Mental retardation, autosomal recessive 36, 615286 (3)
AGBL1 Corneal dystrophy, Fuchs endothelial, 8, 615523 (3)
ALG9 Gillessen-Kaesbach-Nishimura syndrome, 263210 (3)
Congenital disorder of glycosylation, type Il, 608776 (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)
ARID1B Coffin-Siris syndrome 1, 135900 (3)
ARNT2 ?Webb-Dattani syndrome, 615926 (3)
ASCL1 Haddad syndrome, 209880 (3)
Central hypoventilation syndrome, congenital, 209880 (3)
ASPN {Lumbar disc degeneration}, 603932 (3)
{Osteoarthritis susceptibility 3}, 607850 (3)
ATXN2 {Parkinson disease, late-onset, susceptibility to}, 168600 (3)
Spinocerebellar ataxia 2, 183090 (3)
{Amyotrophic lateral sclerosis, susceptibility to, 13}, 183090 (3)
C21orf59 Ciliary dyskinesia, primary, 26, 615500 (3)
CACNA1B ?Dystonia 23, 614860 (3)
CERS1 ?Epilepsy, progressive myoclonic, 8, 616230 (3)
COL18A1 Knobloch syndrome, type 1, 267750 (3)
CTSA Galactosialidosis, 256540 (3)
DCHS1 Mitral valve prolapse 2, 607829 (3)
Van Maldergem syndrome 1, 601390 (3)
DEK Leukemia, acute nonlymphocytic (2)
DNAH1 ?Ciliary dyskinesia, primary, 37, 617577 (3)
Spermatogenic failure 18, 617576 (3)
EIF2AK3 Wolcott-Rallison syndrome, 226980 (3)
FEZF1 Hypogonadotropic hypogonadism 22, with or without anosmia, 616030 (3)
FMN2 Mental retardation, autosomal recessive 47, 616193 (3)
GIGYF2 {Parkinson disease 11}, 607688 (3)
GLB1 GM1-gangliosidosis, type I, 230500 (3)
GM1-gangliosidosis, type II, 230600 (3)
GM1-gangliosidosis, type III, 230650 (3)
Mucopolysaccharidosis type IVB (Morquio), 253010 (3)
GNAO1 Epileptic encephalopathy, early infantile, 17, 615473 (3)
Neurodevelopmental disorder with involuntary movements, 617493 (3)
GPT2 Mental retardation, autosomal recessive 49, 616281 (3)
GRHL3 Van der Woude syndrome 2, 606713 (3)
GTPBP2 Jaberi-Elahi syndrome, 617988 (3)
HTT Huntington disease, 143100 (3)
Lopes-Maciel-Rodan syndrome, 617435 (3)
HYDIN Ciliary dyskinesia, primary, 5, 608647 (3)
IRS2 {Diabetes mellitus, noninsulin-dependent}, 125853 (3)
KIF1A Mental retardation, autosomal dominant 9, 614255 (3)
Neuropathy, hereditary sensory, type IIC, 614213 (3)
Spastic paraplegia 30, autosomal recessive, 610357 (3)
KIF4A ?Mental retardation, X-linked 100, 300923 (3)
KMT2B Dystonia 28, childhood-onset, 617284 (3)
KRT10 Ichthyosis with confetti, 609165 (3)
Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602 (3)
Epidermolytic hyperkeratosis, 113800 (3)
MAGED2 Bartter syndrome, type 5, antenatal, transient, 300971 (3)
MEGF8 Carpenter syndrome 2, 614976 (3)
MESP2 Spondylocostal dysostosis 2, autosomal recessive, 608681 (3)
MMP19 Cavitary optic disc anomalies, 611543 (3)
NFKB2 Immunodeficiency, common variable, 10, 615577 (3)
OGT Mental retardation, X-linked 106, 300997 (3)
ORAI1 Immunodeficiency 9, 612782 (3)
Myopathy, tubular aggregate, 2, 615883 (3)
PIEZO1 Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380 (3)
Lymphatic malformation 6, 616843 (3)
PLCZ1 ?Spermatogenic failure 17, 617214 (3)
PLEKHG2 Leukodystrophy and acquired microcephaly with or without dystonia, 616763 (3)
PTPRQ Deafness, autosomal dominant 73, 617663 (3)
Deafness, autosomal recessive 84A, 613391 (3)
QRICH2 Spermatogenic failure 35, 618341 (3)
RECQL4 Baller-Gerold syndrome, 218600 (3)
RAPADILINO syndrome, 266280 (3)
Rothmund-Thomson syndrome, 268400 (3)
RPS14 Macrocytic anemia, refractory, due to 5q deletion, somatic, 153550 (3)
SBF1 Charcot-Marie-Tooth disease, type 4B3, 615284 (3)
SCN5A Atrial fibrillation, familial, 10, 614022 (3)
Brugada syndrome 1, 601144 (3)
Cardiomyopathy, dilated, 1E, 601154 (3)
Heart block, nonprogressive, 113900 (3)
Heart block, progressive, type IA, 113900 (3)
Long QT syndrome-3, 603830 (3)
{Sudden infant death syndrome, susceptibility to}, 272120 (3)
Sick sinus syndrome 1, 608567 (3)
Ventricular fibrillation, familial, 1, 603829 (3)
SLC37A4 Glycogen storage disease Ib, 232220 (3)
Glycogen storage disease Ic, 232240 (3)
SLC46A1 Folate malabsorption, hereditary, 229050 (3)
SLC6A17 Mental retardation, autosomal recessive 48, 616269 (3)
SOX18 Hypotrichosis-lymphedema-telangiectasia syndrome, 607823 (3)
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, 137940 (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)
TBP {Parkinson disease, susceptibility to}, 168600 (3)
Spinocerebellar ataxia 17, 607136 (3)
TEX11 Spermatogenic failure, X-linked, 2, 309120 (3)
TGIF1 Holoprosencephaly 4, 142946 (3)
TIMM50 3-methylglutaconic aciduria, type IX, 617698 (3)
TMIE Deafness, autosomal recessive 6, 600971 (3)
TOE1 Pontocerebellar hypoplasia, type 7, 614969 (3)
TOP3A Microcephaly, growth restriction, and increased sister chromatid exchange 2, 618097 (3)
?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098 (3)
TUBA3D Keratoconus 9, 617928 (3)
ZNF408 ?Exudative vitreoretinopathy 6, 616468 (3)
Retinitis pigmentosa 72, 616469 (3)

Genes at Clinical Genomics Database

AGBL1, ALG9, ALMS1, AR, ARID1B, ARNT2, ASCL1, ATXN2, CACNA1B, CERS1, COL18A1, CTSA, DCHS1, DNAH1, EIF2AK3, FEZF1, FMN2, GIGYF2, GLB1, GNAO1, GPT2, GRHL3, HTT, KIF1A, KIF4A, KRT10, MAGED2, MEGF8, MESP2, MMP19, NFKB2, ORAI1, PIEZO1, PLEKHG2, PTPRQ, RECQL4, SBF1, SCN5A, SLC37A4, SLC46A1, SLC6A17, SOX18, SPATA7, SPEG, SZT2, TBP, TEX11, TGIF1, TMIE, ZNF408, ZNF480,
AGBL1 Corneal dystrophy, Fuchs endothelial, 8
ALG9 Congenital disorder of glycosylation, type Il
ALMS1 Alstrom syndrome
AR Androgen insensitivity
Androgen insensitivity, partial
ARID1B Mental retardation, autosomal dominant, 12
Coffin-Siris syndrome 1
ARNT2 Webb-Datani syndrome
ASCL1 Central hypoventilation syndrome, congenital (Haddad syndrome)
ATXN2 Spinocerebellar ataxia 2
CACNA1B Dystonia 23
CERS1 Epilepsy, progressive myoclonic 8
COL18A1 Knobloch syndrome 1
CTSA Galactosialidosis
DCHS1 Mitral valve prolapse 2
DNAH1 Spermatogenic failure
EIF2AK3 Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus
Wolcott-Rallison syndrome
FEZF1 Hypogonadotropic hypogonadism 22 with or without anosmia
FMN2 Mental retardation, autosomal recessive, 47
GIGYF2 Parkinson disease, autosomal dominant, 11
GLB1 Mucopolysaccharidosis type IVB (Morquio syndrome B)
GM1-gangliosidosis, type I
GM1-gangliosidosis, type II
GM1-gangliosidosis, type III
GNAO1 Epileptic encephalopathy, early infantile, 17
GPT2 Mental retardation, autosomal recessive 49
GRHL3 van der Woude syndrome 2
HTT Huntington disease
KIF1A Mental retardation, autosomal dominant 9
Neuropathy, hereditary sensory, type IIC
Spastic paraplegia 30, autosomal recessive
KIF4A Mental retardation, X-linked 100
KRT10 Erythroderma, ichthyosiform, congenital reticular
Aaru disease
Ichthyosis, cyclic, with epidermolytic hyperkeratosis
Epidermolytic hyperkeratosis
Ichthyosis with confetti
MAGED2 Bartter syndrome type 5, antenatal transient
MEGF8 Carpenter syndrome 2
MESP2 Spondylocostal dysostosis 2, autosomal recessive
MMP19 Cavitary optic disc anomalies
NFKB2 Immunodeficiency, common variable, 10
ORAI1 Immunodeficiency 9
PIEZO1 Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
PLEKHG2 Leukodystrophy and acquired microcephaly with or without dystonia
PTPRQ Deafness, autosomal recessive 84
RECQL4 Baller-Gerold syndrome
RAPADILINO syndrome
Rothmund-Thomson syndrome
SBF1 Charcot-Marie-Tooth disease, type 4B3
SCN5A Atrial fibrillation, familial 10
Long QT syndrome 3
Idiopathic ventricular fibrillation
Heart block, progressive, type IA
Heart block, nonprogressive
Sick sinus syndrome 1, autosomal recessive
Cardiomyopathy, dilated, 1E
Brugada syndrome 1
Ventricular fibrillation, familial 1
SLC37A4 Glycogen storage disease Ib
Glycogen storage disease Ic
Glycogen storage disease Id
SLC46A1 Folate malabsorption, hereditary
SLC6A17 Mental retardation, autosomal recessive 48
SOX18 Hypotrichosis-lymphedema-telangiectasia syndrome
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
SPATA7 Leber congenital amaurosis 3
Retitinitis pigmentosa, juvenile, SPATA7-related
SPEG Centronuclear myopathy 5
SZT2 Epileptic encephalopathy, early infantile, 18
TBP Spinocerebellar ataxia 17
TEX11 Spermatogenic failure, X-linked 2
TGIF1 Holoprosencephaly 4
TMIE Deafness, autosomal recessive 6
ZNF408 Exudative vitreoretinopathy 6
Retinitis pigmentosa 72
ZNF480 Schizophrenia

Genes at HGMD

Summary

Number of Variants: 931
Number of Genes: 322

Export to: CSV

ABCA6
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 15ac02301_s1 genome 17 . 67085643 9.3 A T LowGQX 0/1 3 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None ABCA6|0.006278632|84.32%

AC106876.2
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 15ac02301_s1 genome 2 . 233877853 9.3 C A LowGQX 0/1 3 NON_SYNONYMOUS_CODING MODERATE None 0.62 None None None None None None NGEF|0.164939801|40.94%

ACR
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 15ac02301_s1 genome 22 . 51176706 9.3 G T LowGQX 0/1 4 NON_SYNONYMOUS_CODING MODERATE None 0.20 0.35 None None None None None None ACR|0.009551139|81.19%

ACTR1B
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 15ac02301_s1 genome 2 . 98275896 9.3 G T LowGQX 0/1 4 SYNONYMOUS_CODING LOW None None None None None None None ACTR1B|0.331988418|25.32%

ADAT3
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 15ac02301_s1 genome 19 . 1912359 9.3 G T LowGQX 0/1 4 NON_SYNONYMOUS_CODING MODERATE None 0.31 0.01 None None None None None None SCAMP4|0.018776981|74.82%,ADAT3|0.006291951|84.29%

ADCK2
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 15ac02301_s1 genome 7 . 140395899 9.3 G T LowGQX 0/1 4 None None None 0.00 0.58 None None None None None None ADCK2|0.011976482|79.27%,NDUFB2|0.044961792|64.23%

AFMID
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 15ac02301_s1 genome 17 rs756480174
dbSNP Clinvar 		76200919 9.3 C A LowGQX 0/1 4 NON_SYNONYMOUS_CODING MODERATE None 0.02 0.96 None None None None None None AFMID|0.002123671|90.66%

AGBL1
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 15ac02301_s1 genome 15 rs1566088
dbSNP Clinvar 		86806029 9.3 C T LowGQX 0/1 3 SYNONYMOUS_CODING LOW None 0.30818 None None None None None None AGBL1|0.082073978|54.74%
View 15ac02301_s1 genome 15 . 87089291 9.3 G T LowGQX 0/1 3 NON_SYNONYMOUS_CODING MODERATE None 0.00 1.00 None None None None None None AGBL1|0.082073978|54.74%

AHCTF1
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 15ac02301_s1 genome 1 rs2642990
dbSNP Clinvar 		247048834 9.1 T C LowGQX 0/1 3 NON_SYNONYMOUS_CODING MODERATE None 0.68171 0.68170 0.36973 1.00 0.00 None None None None None None AHCTF1|0.093190661|52.56%

AHNAK2
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 15ac02301_s1 genome 14 . 105422958 9.3 G A LowGQX 0/1 3 SYNONYMOUS_CODING LOW None None None None None None None AHNAK2|0.000253171|99.62%

ALDH9A1
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 15ac02301_s1 genome 1 . 165649800 9.3 G T LowGQX 0/1 3 NON_SYNONYMOUS_CODING MODERATE None 0.41 0.01 None None None None None None ALDH9A1|0.055569137|61.04%

ALG9
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 15ac02301_s1 genome 11 . 111742146 0.0 G . LowGQX . 0 FRAME_SHIFT HIGH None 1.00000 1.00000 0.00040 None None None None None None ALG9|0.352156163|23.94%

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 15ac02301_s1 genome 2 . 73613032 0.0 G . LowGQX . 23 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.76597 0.76600 None None None None None None ALMS1|0.012791041|78.65%
View 15ac02301_s1 genome 2 . 73613033 0.0 G . LowGQX . 23 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.76597 0.76600 None None None None None None ALMS1|0.012791041|78.65%
View 15ac02301_s1 genome 2 . 73613034 0.0 A . LowGQX . 23 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.76597 0.76600 None None None None None None ALMS1|0.012791041|78.65%
View 15ac02301_s1 genome 2 . 73613037 0.0 A . LowGQX . 23 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.76597 0.76600 None None None None None None ALMS1|0.012791041|78.65%
View 15ac02301_s1 genome 2 . 73613036 0.0 G . LowGQX . 22 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.76597 0.76600 None None None None None None ALMS1|0.012791041|78.65%
View 15ac02301_s1 genome 2 . 73613035 0.0 G . LowGQX . 23 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.76597 0.76600 None None None None None None ALMS1|0.012791041|78.65%

ALPK1
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 15ac02301_s1 genome 4 . 113351736 9.3 G T LowGQX 0/1 4 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.93 None None None None None None ALPK1|0.013394495|78.25%

AMIGO1
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 15ac02301_s1 genome 1 . 110051488 9.3 G T LowGQX 0/1 3 NON_SYNONYMOUS_CODING MODERATE None 0.23 0.09 None None None None None None AMIGO1|0.280280899|29.08%

ANHX
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 15ac02301_s1 genome 12 . 133808173 9.3 A G LowGQX 0/1 3 NON_SYNONYMOUS_CODING MODERATE None 0.00 1.00 None None None None None None ANHX|0.002701855|89.23%

ANKDD1A
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 15ac02301_s1 genome 15 . 65208041 9.3 A T LowGQX 0/1 3 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.70 None None None None None None ANKDD1A|0.020521915|73.92%

ANKRA2
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 15ac02301_s1 genome 5 . 72851364 9.3 C A LowGQX 0/1 4 NON_SYNONYMOUS_CODING MODERATE None 0.43 0.98 None None None None None None ANKRA2|0.296051688|27.95%

ANKRD36
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 15ac02301_s1 genome 2 rs59466168
dbSNP Clinvar 		97860487 9.1 T C LowGQX 0/1 4 NON_SYNONYMOUS_CODING MODERATE None 0.08 1.00 None None None None None None ANKRD36|0.001192347|94.46%

ANKRD36C
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 15ac02301_s1 genome 2 rs112058478
dbSNP Clinvar 		96521548 9.3 G A LowGQX 0/1 4 SYNONYMOUS_CODING LOW None None None None None None None ANKRD36C|0.001406745|93.3%
View 15ac02301_s1 genome 2 rs78536198
dbSNP Clinvar 		96521512 9.3 A C LowGQX 0/1 4 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None ANKRD36C|0.001406745|93.3%

ANKS3
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 15ac02301_s1 genome 16 . 4764102 9.3 A G LowGQX 0/1 4 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.63 None None None None None None ANKS3|0.043782759|64.58%
View 15ac02301_s1 genome 16 rs78384770
dbSNP Clinvar 		4764117 9.3 A C LowGQX 0/1 4 NON_SYNONYMOUS_CODING MODERATE None 0.01458 0.01458 0.02347 0.38 0.00 None None None None None None ANKS3|0.043782759|64.58%

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 15ac02301_s1 genome 15 . 90349272 9.29 C A LowGQX 0/1 3 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.17 0.01 None None None None None None ANPEP|0.009750059|81.03%

APOBEC3H
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 15ac02301_s1 genome 22 . 39496324 0.0 A . LowGQX . 7 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.31749 0.31750 0.32481 None None None None None None APOBEC3H|0.000715686|97.18%
View 15ac02301_s1 genome 22 . 39496323 0.0 A . LowGQX . 7 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.31749 0.31750 0.32481 None None None None None None APOBEC3H|0.000715686|97.18%
View 15ac02301_s1 genome 22 . 39496325 0.0 C . LowGQX . 7 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.31749 0.31750 0.32481 None None None None None None APOBEC3H|0.000715686|97.18%

AR
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 15ac02301_s1 genome X . 66765161 0.0 A . LowGQX . 135 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None AR|0.999436019|0.35%
View 15ac02301_s1 genome X . 66765162 0.0 G . LowGQX . 209 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None AR|0.999436019|0.35%
View 15ac02301_s1 genome X . 66765160 0.0 C . LowGQX . 137 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None AR|0.999436019|0.35%
View 15ac02301_s1 genome X . 66765159 0.0 G . LowGQX . 135 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None AR|0.999436019|0.35%

ARAP1
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 15ac02301_s1 genome 11 rs777581670
dbSNP Clinvar 		72412726 9.3 C T LowGQX 0/1 3 NON_SYNONYMOUS_CODING MODERATE None 0.01 0.19 None None None None None None ARAP1|0.193135923|37.51%

ARHGEF17
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 15ac02301_s1 genome 11 . 73073214 9.3 T C LowGQX 0/1 3 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.99 None None None None None None ARHGEF17|0.03247462|68.39%
View 15ac02301_s1 genome 11 . 73057930 9.3 C A LowGQX 0/1 4 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.04 0.89 None None None None None None ARHGEF17|0.03247462|68.39%

ARHGEF40
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 15ac02301_s1 genome 14 . 21541278 9.29 C A LowGQX 0/1 3 SYNONYMOUS_CODING LOW None None None None None None None ARHGEF40|0.101019692|50.98%

ARID1B
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 15ac02301_s1 genome 6 . 157100119 0.0 C . LowGQX . 1 CODON_DELETION MODERATE None None None None None None None ARID1B|0.540737445|14.17%
View 15ac02301_s1 genome 6 . 157100117 0.0 G . LowGQX . 1 CODON_DELETION MODERATE None None None None None None None ARID1B|0.540737445|14.17%
View 15ac02301_s1 genome 6 . 157100120 0.0 G . LowGQX . 0 CODON_DELETION MODERATE None None None None None None None ARID1B|0.540737445|14.17%
View 15ac02301_s1 genome 6 . 157100118 0.0 G . LowGQX . 1 CODON_DELETION MODERATE None None None None None None None ARID1B|0.540737445|14.17%

ARNT2
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 15ac02301_s1 genome 15 . 80872774 9.3 G T LowGQX 0/1 3 STOP_GAINED HIGH None None None None None None None ARNT2|0.112367144|48.8%

ASCL1
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 15ac02301_s1 genome 12 . 103352174 36.0 A . LowGQX 0 17 CODON_DELETION MODERATE None None None None None None None PAH|0.397123463|20.97%,ASCL1|0.898371145|3.46%

ASIC4
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 15ac02301_s1 genome 2 . 220396780 9.3 C A LowGQX 0/1 3 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.99 None None None None None None ASIC4|0.158324569|41.82%

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 15ac02301_s1 genome 9 . 95237026 0.0 C . LowGQX . 62 CODON_DELETION MODERATE None None None None None None None CENPP|0.015429847|76.86%,ASPN|0.415784887|19.83%
View 15ac02301_s1 genome 9 . 95237027 0.0 A . LowGQX . 61 CODON_DELETION MODERATE None None None None None None None CENPP|0.015429847|76.86%,ASPN|0.415784887|19.83%
View 15ac02301_s1 genome 9 . 95237025 0.0 T . LowGQX . 62 CODON_DELETION MODERATE None None None None None None None CENPP|0.015429847|76.86%,ASPN|0.415784887|19.83%
View 15ac02301_s1 genome 9 . 95237028 0.0 T . LowGQX . 128 CODON_DELETION MODERATE None None None None None None None CENPP|0.015429847|76.86%,ASPN|0.415784887|19.83%

ATP6V0D1
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 15ac02301_s1 genome 16 . 67473032 9.3 C A LowGQX 0/1 4 NON_SYNONYMOUS_CODING MODERATE None 0.17 0.40 None None None None None None ATP6V0D1|0.384752989|21.73%

ATXN2
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 15ac02301_s1 genome 12 . 112036756 0.0 T . LowGQX . 7 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 15ac02301_s1 genome 12 . 112036755 0.0 C . LowGQX . 7 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 15ac02301_s1 genome 12 . 112036754 0.0 G . LowGQX . 7 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.95108 0.95110 0.09190 None None None None None None ATXN2|0.872313714|4.16%

BAI1
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 15ac02301_s1 genome 8 . 143563048 9.3 C A LowGQX 0/1 3 STOP_GAINED HIGH None None None None None None None ADGRB1|0.079978463|55.17%

BCAR3
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 15ac02301_s1 genome 1 . 94047998 9.3 T A LowGQX 0/1 4 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.71 None None None None None None BCAR3|0.150957792|42.84%

BCL2L12
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 15ac02301_s1 genome 19 rs768916751
dbSNP Clinvar 		50173695 9.3 G A LowGQX 0/1 3 NON_SYNONYMOUS_CODING MODERATE None 0.10 0.96 None None None None None None BCL2L12|0.018682932|74.86%

BSN
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 15ac02301_s1 genome 3 . 49694135 9.3 G A LowGQX 0/1 4 SYNONYMOUS_CODING LOW None None None None None None None BSN|0.190182415|37.78%
View 15ac02301_s1 genome 3 . 49694126 9.29 G A LowGQX 0/1 4 SYNONYMOUS_CODING LOW None None None None None None None BSN|0.190182415|37.78%

C11orf89
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 15ac02301_s1 genome 11 . 1910994 9.3 C A LowGQX 0/1 3 NON_SYNONYMOUS_CODING MODERATE None 0.68 0.04 None None None None None None LSP1|0.003433512|87.89%,PRR33|0.001382985|93.45%

C16orf95
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 15ac02301_s1 genome 16 . 87344773 9.3 G A LowGQX 0/1 4 SYNONYMOUS_CODING LOW None None None None None None None C16orf95|0.001242793|94.21%

C21orf59
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 15ac02301_s1 genome 21 . 33976464 9.3 C A LowGQX 0/1 4 STOP_GAINED HIGH None None None None None None None C21orf59|0.034467568|67.63%

C2orf54
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 15ac02301_s1 genome 2 . 241831161 9.3 G A LowGQX 0/1 3 SYNONYMOUS_CODING LOW None None None None None None None C2orf54|0.010178626|80.73%

CACNA1B
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 15ac02301_s1 genome 9 . 140953043 9.3 T C LowGQX 0/1 3 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.52 None None None None None None CACNA1B|0.168604934|40.5%

CARS
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 15ac02301_s1 genome 11 . 3033460 9.3 C A LowGQX 0/1 3 NON_SYNONYMOUS_CODING MODERATE None 0.00 1.00 None None None None None None CARS|0.024590526|72%

CBX1
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 15ac02301_s1 genome 17 . 46154349 9.3 G T LowGQX 0/1 3 NON_SYNONYMOUS_CODING MODERATE None 0.06 0.00 None None None None None None CBX1|0.869221255|4.23%

CCDC169-SOHLH2
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 15ac02301_s1 genome 13 . 36801494 9.3 G T LowGQX 0/1 4 NON_SYNONYMOUS_CODING MODERATE None 0.89 0.03 None None None None None None SOHLH2|0.025487064|71.56%,CCDC169-SOHLH2|0.024786398|71.88%,CCDC169|0.01125788|79.84%

CCDC88B
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 15ac02301_s1 genome 11 . 64112616 9.3 A G LowGQX 0/1 4 NON_SYNONYMOUS_CODING MODERATE None 0.23 0.08 None None None None None None CCDC88B|0.013893169|77.95%

CD37
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 15ac02301_s1 genome 19 . 49840963 9.29 G T LowGQX 0/1 4 None None None 0.30 0.41 None None None None None None CD37|0.016678647|76.09%

CD3EAP
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 15ac02301_s1 genome 19 . 45912490 0.0 A . LowGQX . 28 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.21855 None None None None None None CD3EAP|0.001466541|92.96%,ERCC1|0.17437384|39.74%
View 15ac02301_s1 genome 19 . 45912491 0.0 A . LowGQX . 28 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.21855 None None None None None None CD3EAP|0.001466541|92.96%,ERCC1|0.17437384|39.74%
View 15ac02301_s1 genome 19 . 45912492 0.0 G . LowGQX . 28 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.21855 None None None None None None CD3EAP|0.001466541|92.96%,ERCC1|0.17437384|39.74%
View 15ac02301_s1 genome 19 . 45912493 0.0 A . LowGQX . 172 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.21855 None None None None None None CD3EAP|0.001466541|92.96%,ERCC1|0.17437384|39.74%

CD99
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 15ac02301_s1 genome X rs311083
dbSNP Clinvar 		2645366 9.3 G C LowGQX 0/1 4 None None None 0.61641 0.61640 0.29351 0.54 None None None None None None CD99|0.003192915|88.33%

CDC25B
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 15ac02301_s1 genome 20 rs760737511
dbSNP Clinvar 		3785592 9.3 G A LowGQX 0/1 3 NON_SYNONYMOUS_CODING MODERATE None 0.00 1.00 3.84 0.04 0.58819 D None None None None CDC25B|0.242518934|32.24%

CDH2
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 15ac02301_s1 genome 18 . 25543347 9.3 C A LowGQX 0/1 3 STOP_GAINED HIGH None None None None None None None CDH2|0.998144482|0.55%

CERS1
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 15ac02301_s1 genome 19 . 18994903 9.3 C A LowGQX 0/1 3 NON_SYNONYMOUS_CODING MODERATE None 0.14 0.73 None None None None None None GDF1|0.029730232|69.53%,CERS1|0.021976835|73.17%

CNN1
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 15ac02301_s1 genome 19 . 11651980 9.3 G T LowGQX 0/1 4 NON_SYNONYMOUS_CODING MODERATE None 0.06 0.56 None None None None None None CNN1|0.154924611|42.31%

CNTROB
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 15ac02301_s1 genome 17 rs11078719
dbSNP Clinvar 		7843053 9.3 C T LowGQX 0/1 3 SYNONYMOUS_CODING LOW None 0.59485 0.59480 0.44517 None None None None None None CNTROB|0.086163509|53.91%

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 15ac02301_s1 genome 21 . 46924429 0.0 C . LowGQX . 84 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None COL18A1|0.045578537|64.02%,SLC19A1|0.006805855|83.69%
View 15ac02301_s1 genome 21 . 46924433 0.0 C . LowGQX . 80 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None COL18A1|0.045578537|64.02%,SLC19A1|0.006805855|83.69%
View 15ac02301_s1 genome 21 . 46924432 0.0 C . LowGQX . 81 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None COL18A1|0.045578537|64.02%,SLC19A1|0.006805855|83.69%
View 15ac02301_s1 genome 21 . 46924431 0.0 C . LowGQX . 77 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None COL18A1|0.045578537|64.02%,SLC19A1|0.006805855|83.69%
View 15ac02301_s1 genome 21 . 46924430 0.0 C . LowGQX . 82 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None COL18A1|0.045578537|64.02%,SLC19A1|0.006805855|83.69%
View 15ac02301_s1 genome 21 . 46924428 0.0 C . LowGQX . 85 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None COL18A1|0.045578537|64.02%,SLC19A1|0.006805855|83.69%
View 15ac02301_s1 genome 21 . 46924426 0.0 G . 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%
View 15ac02301_s1 genome 21 . 46924427 0.0 G . LowGQX . 84 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None COL18A1|0.045578537|64.02%,SLC19A1|0.006805855|83.69%

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 15ac02301_s1 genome 1 . 153946351 9.3 C A LowGQX 0/1 3 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.08 None None None None None None CREB3L4|0.068445481|57.85%

CRTC2
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 15ac02301_s1 genome 1 . 153925772 9.3 G T LowGQX 0/1 3 NON_SYNONYMOUS_CODING MODERATE None 0.03 0.02 None None None None None None CRTC2|0.646909944|10.2%

CTBP2
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 15ac02301_s1 genome 10 . 126678134 33.01 G . LowGQX 0 2 FRAME_SHIFT HIGH None None None None None None None CTBP2|0.585435328|12.33%

CTSA
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 15ac02301_s1 genome 20 . 44520238 0.0 C . LowGQX . 8 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None CTSA|0.152533286|42.59%
View 15ac02301_s1 genome 20 . 44520239 0.0 T . LowGQX . 8 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None CTSA|0.152533286|42.59%
View 15ac02301_s1 genome 20 . 44520240 0.0 G . LowGQX . 8 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None CTSA|0.152533286|42.59%
View 15ac02301_s1 genome 20 . 44520241 0.0 C . LowGQX . 70 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None CTSA|0.152533286|42.59%

DAGLA
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 15ac02301_s1 genome 11 . 61495685 9.3 C A LowGQX 0/1 3 NON_SYNONYMOUS_CODING MODERATE None 0.00 1.00 None None None None None None DAGLA|0.092939562|52.63%

DBNDD2
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 15ac02301_s1 genome 20 . 44037063 9.3 C A LowGQX 0/1 3 NON_SYNONYMOUS_CODING MODERATE None 0.08 0.06 None None None None None None DBNDD2|0.078431837|55.57%

DCHS1
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 15ac02301_s1 genome 11 . 6643396 9.3 G T LowGQX 0/1 4 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.99 None None None None None None DCHS1|0.137678382|44.76%

DEK
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 15ac02301_s1 genome 6 . 18264099 9.3 G A LowGQX 0/1 3 SYNONYMOUS_CODING LOW None None None None None None None DEK|0.839668154|4.89%