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EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES
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EXCLUDE ALL VARIANTS PRESENT IN DBSNP
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CADD

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MCAP

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Genes:
AASDH, ABAT, ABCA10, ABCC11, AC016757.3, AC024592.12, ACADS, ACAT2, ADH4, AKAP9, AKR1C4, AKR7L, ALDH7A1, ANKRD36C, APIP, APOBEC3H, APOL2, ARFGAP3, ARHGEF37, ARL2, ARSG, AXDND1, BRWD3, C10ORF68, C11orf52, C16orf71, C1orf204, C20orf96, C2orf76, C2orf80, C5AR1, C5orf45, C7orf25, C7orf63, CAPN14, CCDC60, CD109, CD68, CDK11A, CDRT15, CENPU, CEP63, CHAT, CHN2, CILP, CNTLN, CNTROB, COL5A3, COLEC12, CPOX, CPVL, CR1, CRTAM, CTC1, CYP20A1, CYP2D7P, DBNDD2, DHODH, DLL3, DMD, DNAH14, DNAH6, DNAH9, DNPEP, DPP10, DSCAML1, ECE1, ECI2, EFCAB4A, EFS, EMR1, EPHA1, EXD3, FAM114A1, FAM129C, FAT2, FER1L6, FMN1, FOCAD, GAGE12J, GALNTL5, GANC, GBP3, GCKR, GLYATL2, GRK7, HAP1, HEATR5A, HEG1, HERC6, HHLA1, HIF3A, HMGXB3, HNF4G, HOOK2, ICAM3, IFI35, IFT74, IGHA2, IGHD2-2, IGHV3-30, IGHV4-28, IRAK3, ITGA8, ITIH4, JUP, KCNK15, KIAA1211, KIAA1731, KRT15, LAMB3, LAMC3, LILRB3, LINC01118, LMBR1, LMF2, LPCAT1, LPIN3, LRCH4, LRP1, LRP8, LRRK2, LY75-CD302, MAP2K3, MINK1, MLXIPL, MRGPRF, MROH2B, MROH9, MSH3, MUC16, MUC19, MUC2, MUC3A, MYBPH, MYO3A, MYOM2, NAAA, NBPF1, NBPF20, NBPF3, NEURL4, NLE1, NME8, NOM1, NRCAM, OTOGL, PCK1, PDE4DIP, PGLYRP3, PKHD1, PLA2G4D, PLA2R1, PLXNA2, POMGNT1, PPAP2C, PPCDC, PRAME, PTF1A, PTK7, PXDNL, RBAK-RBAKDN, RHAG, RIF1, RPAP1, S100A7L2, SAA1, SEC14L6, SENP7, SERINC3, SETDB2, SFTPB, SLC12A1, SLC15A5, SLU7, SPTBN5, SRGAP2, STAB1, TAF1B, TBC1D2B, TCN2, TGM4, TMEM175, TMEM25, TMPRSS11F, TNK1, TPCN2, TPR, TRIM69, TRPA1, TTC16, TTN, ULK3, UVSSA, VCAN, VEZT, VPS54, VSTM1, VWA3B, YIPF1, ZBBX, ZBP1, ZDHHC13, ZFP91, ZNF177, ZNF695, ZNF705G,

Genes at Omim

ABAT, ABCC11, ACADS, ACAT2, AKAP9, AKR1C4, ALDH7A1, APOL2, ARSG, BRWD3, CEP63, CHAT, CILP, CPOX, CR1, CTC1, DHODH, DLL3, DMD, DNAH9, ECE1, FAT2, GCKR, IFT74, IRAK3, ITGA8, ITIH4, JUP, LAMB3, LAMC3, LMBR1, LRP1, LRP8, LRRK2, MSH3, MYO3A, NME8, OTOGL, PCK1, POMGNT1, PTF1A, RHAG, SFTPB, SLC12A1, TCN2, TPCN2, TRPA1, TTN, UVSSA, VCAN, VWA3B,
ABAT GABA-transaminase deficiency, 613163 (3)
ABCC11 [Axillary odor, variation in], 117800 (3)
[Colostrum secretion, variation in], 117800 (3)
[Earwax, wet/dry], 117800 (3)
ACADS Acyl-CoA dehydrogenase, short-chain, deficiency of, 201470 (3)
ACAT2 ?ACAT2 deficiency, 614055 (1)
AKAP9 ?Long QT syndrome-11, 611820 (3)
AKR1C4 {46XY sex reversal 8, modifier of}, 614279 (3)
ALDH7A1 Epilepsy, pyridoxine-dependent, 266100 (3)
APOL2 {Schizophrenia}, 181500 (1)
ARSG Usher syndrome, type IV, 618144 (3)
BRWD3 Mental retardation, X-linked 93, 300659 (3)
CEP63 ?Seckel syndrome 6, 614728 (3)
CHAT Myasthenic syndrome, congenital, 6, presynaptic, 254210 (3)
CILP {Lumbar disc disease, susceptibility to}, 603932 (3)
CPOX Harderoporphyria, 121300 (3)
Coproporphyria, 121300 (3)
CR1 CR1 deficiency (1)
{Malaria, severe, resistance to}, 611162 (3)
[Blood group, Knops system], 607486 (3)
{?SLE susceptibility} (1)
CTC1 Cerebroretinal microangiopathy with calcifications and cysts, 612199 (3)
DHODH Miller syndrome, 263750 (3)
DLL3 Spondylocostal dysostosis 1, autosomal recessive, 277300 (3)
DMD Becker muscular dystrophy, 300376 (3)
Cardiomyopathy, dilated, 3B, 302045 (3)
Duchenne muscular dystrophy, 310200 (3)
DNAH9 Ciliary dyskinesia, primary, 40, 618300 (3)
ECE1 {Hypertension, essential, susceptibility to}, 145500 (3)
?Hirschsprung disease, cardiac defects, and autonomic dysfunction, 613870 (3)
FAT2 Spinocerebellar ataxia 45, 617769 (3)
GCKR [Fasting plasma glucose level QTL 5], 613463 (3)
IFT74 ?Bardet-Biedl syndrome 20, 617119 (3)
IRAK3 {Asthma susceptibility 5}, 611064 (3)
ITGA8 Renal hypodysplasia/aplasia 1, 191830 (3)
ITIH4 {Hypercholesterolemia, susceptibility to}, 143890 (3)
JUP Arrhythmogenic right ventricular dysplasia 12, 611528 (3)
Naxos disease, 601214 (3)
LAMB3 Amelogenesis imperfecta, type IA, 104530 (3)
Epidermolysis bullosa, junctional, Herlitz type, 226700 (3)
Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3)
LAMC3 Cortical malformations, occipital, 614115 (3)
LMBR1 Acheiropody, 200500 (3)
Hypoplastic or aplastic tibia with polydactyly, 188740 (3)
Laurin-Sandrow syndrome, 135750 (3)
Polydactyly, preaxial type II, 174500 (3)
Syndactyly, type IV, 186200 (3)
Triphalangeal thumb, type I, 174500 (3)
Triphalangeal thumb-polysyndactyly syndrome, 174500 (3)
LRP1 ?Keratosis pilaris atrophicans, 604093 (3)
LRP8 {Myocardial infarction, susceptibility to}, 608446 (3)
LRRK2 {Parkinson disease 8}, 607060 (3)
MSH3 Familial adenomatous polyposis 4, 617100 (3)
Endometrial carcinoma, somatic, 608089 (3)
MYO3A Deafness, autosomal recessive 30, 607101 (3)
NME8 Ciliary dyskinesia, primary, 6, 610852 (3)
OTOGL Deafness, autosomal recessive 84B, 614944 (3)
PCK1 ?Phosphoenolpyruvate carboxykinase deficiency, cytosolic, 261680 (3)
POMGNT1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, 253280 (3)
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3, 613151 (3)
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3, 613157 (3)
Retinitis pigmentosa 76, 617123 (3)
PTF1A Pancreatic agenesis 2, 615935 (3)
Pancreatic and cerebellar agenesis, 609069 (3)
RHAG Anemia, hemolytic, Rh-null, regulator type, 268150 (3)
Overhydrated hereditary stomatocytosis, 185000 (3)
SFTPB Surfactant metabolism dysfunction, pulmonary, 1, 265120 (3)
SLC12A1 Bartter syndrome, type 1, 601678 (3)
TCN2 Transcobalamin II deficiency, 275350 (3)
TPCN2 [Skin/hair/eye pigmentation 10, blond/brown hair], 612267 (3)
TRPA1 ?Episodic pain syndrome, familial, 1, 615040 (3)
TTN Cardiomyopathy, dilated, 1G, 604145 (3)
Cardiomyopathy, familial hypertrophic, 9, 613765 (3)
Muscular dystrophy, limb-girdle, autosomal recessive 10, 608807 (3)
Myopathy, proximal, with early respiratory muscle involvement, 603689 (3)
Salih myopathy, 611705 (3)
Tibial muscular dystrophy, tardive, 600334 (3)
UVSSA UV-sensitive syndrome 3, 614640 (3)
VCAN Wagner syndrome 1, 143200 (3)
VWA3B ?Spinocerebellar ataxia, autosomal recessive 22, 616948 (3)

Genes at Clinical Genomics Database

ABAT, ABCC11, ACADS, AKAP9, ALDH7A1, BRWD3, CEP63, CHAT, CPOX, CR1, CTC1, DHODH, DLL3, DMD, ECE1, ITGA8, JUP, LAMB3, LAMC3, LMBR1, LRP1, LRRK2, MSH3, MYO3A, NME8, OTOGL, PKHD1, POMGNT1, PTF1A, RHAG, SFTPB, SLC12A1, TCN2, TPCN2, TRPA1, TTN, UVSSA, VCAN, VWA3B,
ABAT GABA-transaminase deficiency
ABCC11 Apocrine gland secretion, variation in
ACADS Acyl-CoA dehydrogenase, short-chain, deficiency of
AKAP9 Long QT syndrome 11
ALDH7A1 Epilepsy, pyridoxine-dependent
BRWD3 Mental retardation, X-linked 93
CEP63 Seckel syndrome 6
CHAT Myasthenic syndrome, congenital 6, presynaptic
CPOX Coproporphyria
Harderoporphyria
CR1 Blood group, Knops system
CTC1 Cerebroretinal microangiopathy with calcifications and cysts
DHODH Postaxial acrofacial dysostosis (Miller syndrome)
DLL3 Spondylocostal dysostosis 1, autosomal recessive
DMD Duchenne muscular dystrophy
Becker muscular dystrophy
Cardiomyopathy, dilated, 3B
ECE1 Hirschsprung disease, cardiac defects, and autonomic dysfunction
ITGA8 Renal agenesis, bilateral
JUP Arrhythmogenic right ventricular dysplasia, familial, 12
Naxos disease
LAMB3 Amelogenesis imperfecta, type IA
Epidermolysis bullosa, junctional, Herlitz type
Epidermolysis bullosa, junctional, non-Herlitz type
LAMC3 Cortical malformations, occipital
LMBR1 Acheiropody
Syndactyly, type IV
Laurin-Sandrow syndrome
Triphalangeal thumb, type I
Polydactyly, preaxial type II
Triphalangeal thumb-polysyndactyly syndrome
Tibial aplasia/hypoplasia
Hypoplastic or aplastic tibia with polydactyly
LRP1 Schizophrenia
LRRK2 Parkinson disease 8
Dementia, Lewy body
MSH3 Endometrial carcinoma
MYO3A Deafness, autosomal recessive 30
NME8 Ciliary dyskinesia, primary, 6
OTOGL Deafness, autosomal recessive 84B
PKHD1 Polycystic kidney disease, autosomal recessive
POMGNT1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3
PTF1A Pancreatic and cerebellar agenesis
Pancreatic agenesis 2
RHAG Overhydrated hereditary stomatocytosis
Anemia, hemolytic, Rh-null, regulator type
Anemia, hemolytic,Rh-Mod type
RHAG blood group
SFTPB Surfactant metabolism dysfunction, pulmonary 1
SLC12A1 Bartter syndrome, antenatal, type 1
TCN2 Transcobalamin II deficiency
TPCN2 Skin/hair/eye pigmentation, variation in, 10
TRPA1 Episodic pain syndrome, familial
TTN Cardiomyopathy, familial hypertrophic 9
Cardiomyopathy, dilated, 1G
UVSSA UV-sensitive syndrome 3
VCAN Wagner syndrome 1
VWA3B Spinocerebellar ataxia, autosomal recessive 22

Genes at HGMD

Summary

Number of Variants: 216
Number of Genes: 207

Export to: CSV

AASDH

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 1445140 4 rs3796543
dbSNP Clinvar
57221348 999.0 T C . 0/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.06470 0.06470 0.01815 0.71 0.03 None None None None None None AASDH|0.054593955|61.31%

ABAT

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 1445140 16 rs1731017
dbSNP Clinvar
8839954 999.0 A G . 1/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.50080 0.50080 0.48599 0.61 0.00 None None None None None None ABAT|0.163825558|41.04%

ABCA10

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 1445140 17 rs11657804
dbSNP Clinvar
67210992 999.0 T C . 0/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.26158 0.26160 0.29885 0.30 0.16 None None None None None None ABCA10|0.002179826|90.49%

ABCC11

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 1445140 16 rs11863236
dbSNP Clinvar
48250026 999.0 G T . 0/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.12899 0.12900 0.14359 0.56 0.00 None None None None None None ABCC11|0.006558104|83.99%

AC016757.3

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 1445140 2 rs7572392
dbSNP Clinvar
239134138 999.0 A C . 1/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.16873 0.16870 0.24 0.00 None None None None None None None

AC024592.12

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 1445140 19 rs778971
dbSNP Clinvar
5867748 999.0 G T . 1/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.63878 0.63880 0.46529 0.09 0.62 None None None None None None FUT5|0.001156471|94.68%

ACADS

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 1445140 12 rs1799958
dbSNP Clinvar
121176083 999.0 G A . 0/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.18231 0.18230 0.19683 0.01 0.34 None None None None None None ACADS|0.070436549|57.39%

ACAT2

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 1445140 6 rs25683
dbSNP Clinvar
160196343 999.0 A G . 1/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.36522 0.36520 0.45433 0.04 0.02 None None None None None None ACAT2|0.090493467|53.12%

ADH4

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 1445140 4 rs1126673
dbSNP Clinvar
100045616 999.0 C T . 1/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.84724 0.84720 0.26992 1.00 0.00 None None None None None None ADH4|0.01057839|80.46%

AKAP9

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 1445140 7 . 91709465 999.0 A G . 0/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.02 None None None None None None AKAP9|0.267262044|30.07%

AKR1C4

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 1445140 10 rs17134592
dbSNP Clinvar
5260682 999.0 C G . 0/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.10244 0.10240 0.11426 0.25 0.00 None None None None None None AKR1C4|0.002829069|88.97%

AKR7L

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 1445140 1 rs75616155
dbSNP Clinvar
19595194 999.0 A G . 0/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.11502 0.11500 0.15562 0.69 None None None None None None AKR7L|0.018209366|75.16%

ALDH7A1

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 1445140 5 rs12514417
dbSNP Clinvar
125887715 999.0 T G . 0/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.09685 0.09685 0.07374 0.20 0.01 None None None None None None ALDH7A1|0.08379131|54.47%

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 1445140 2 rs62154594
dbSNP Clinvar
96610921 999.0 T G . 0/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.28 0.41 None None None None None None ANKRD36C|0.001406745|93.3%

APIP

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 1445140 11 rs61734605
dbSNP Clinvar
34916657 999.0 C T . 0/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.11462 0.11460 0.24946 0.07 0.05 None None None None None None APIP|0.209674362|35.61%

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 1445140 22 rs139300
dbSNP Clinvar
39497509 999.0 A G . 1/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 1.00000 1.00000 1.00 0.00 None None None None None None APOBEC3H|0.000715686|97.18%

APOL2

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 1445140 22 rs5995267
dbSNP Clinvar
36633107 999.0 C A . 0/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.07987 0.07987 0.00 0.23 None None None None None None APOL2|0.000262519|99.56%

ARFGAP3

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 1445140 22 rs1018448
dbSNP Clinvar
43206950 999.0 A C . 1/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.70188 0.70190 0.34669 0.79 0.00 None None None None None None ARFGAP3|0.023747491|72.32%

ARHGEF37

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 1445140 5 rs9324624
dbSNP Clinvar
149006640 999.0 C T . 0/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.37560 0.37560 0.47589 0.00 0.99 None None None None None None ARHGEF37|0.046932636|63.62%

ARL2

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 1445140 11 rs664226
dbSNP Clinvar
64789194 245.0 T C . 0/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.45767 0.45770 0.34562 1.00 0.00 None None None None None None ARL2|0.107780954|49.62%

ARSG

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 1445140 17 rs1558876
dbSNP Clinvar
66364691 999.0 C G . 0/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.27596 0.27600 0.36545 0.70 0.00 None None None None None None ARSG|0.038924858|66.13%

AXDND1

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 1445140 1 rs11577579
dbSNP Clinvar
179414105 999.0 A C . 0/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.21286 0.21290 0.29785 0.19 0.00 None None None None None None AXDND1|0.018165173|75.2%

BRWD3

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 1445140 X rs3122407
dbSNP Clinvar
79943569 999.0 T C . 1/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.98967 0.98970 0.00975 1.00 0.00 None None None None None None BRWD3|0.286279937|28.63%

C10ORF68

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 1445140 10 rs4448627
dbSNP Clinvar
33123824 999.0 G C . 1/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.98363 0.98360 0.01772 1.00 0.00 None None None None None None None

C11orf52

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 1445140 11 rs7124407
dbSNP Clinvar
111795085 999.0 C G . 0/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.33646 0.33650 0.26985 0.29 0.02 None None None None None None C11orf52|0.012567923|78.85%

C16orf71

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 1445140 16 rs2075469
dbSNP Clinvar
4794873 999.0 C T . 0/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.55152 0.55150 0.40049 0.02 0.31 None None None None None None C16orf71|0.001288696|93.97%
View 1445140 16 rs859310
dbSNP Clinvar
4787987 999.0 G A . 0/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.52816 0.52820 0.44344 0.55 0.00 None None None None None None C16orf71|0.001288696|93.97%

C1orf204

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 1445140 1 rs2501340
dbSNP Clinvar
159824967 999.0 G C . 1/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.93111 0.93110 0.10075 1.00 0.00 None None None None None None C1orf204|0.004343057|86.55%,VSIG8|0.077707151|55.73%

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 1445140 20 rs3827147
dbSNP Clinvar
256727 999.0 T A . 1/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.63518 0.63520 0.34553 1.00 0.00 None None None None None None C20orf96|0.00266282|89.34%

C2orf76

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 1445140 2 rs1132267
dbSNP Clinvar
120078778 999.0 T C . 0/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.65555 0.65560 0.29676 0.72 0.01 None None None None None None C2orf76|0.21195474|35.37%

C2orf80

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 1445140 2 rs10804166
dbSNP Clinvar
209036712 999.0 T C . 0/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.85683 0.85680 0.10988 0.11 0.01 None None None None None None C2orf80|0.034135289|67.74%

C5AR1

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 1445140 19 rs4467185
dbSNP Clinvar
47823038 999.0 G A . 1/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.96945 0.96940 0.03260 0.24 0.50 None None None None None None C5AR1|0.017691217|75.49%

C5orf45

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 1445140 5 rs1650893
dbSNP Clinvar
179280379 999.0 T C . 0/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.34507 1.00 0.00 None None None None None None C5orf45|0.001770546|91.6%

C7orf25

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 1445140 7 rs647117
dbSNP Clinvar
42951515 999.0 G A . 1/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.63039 0.63040 0.07 0.00 None None None None None None C7orf25|0.170413051|40.26%

C7orf63

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 1445140 7 rs1134956
dbSNP Clinvar
89938680 999.0 C T . 1/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.38059 0.38060 0.49745 0.00 1.00 None None None None None None CFAP69|0.131174602|45.73%

CAPN14

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 1445140 2 rs1465972
dbSNP Clinvar
31411184 999.0 C A . 0/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.33027 0.33030 0.27289 0.02 0.41 None None None None None None CAPN14|0.013270833|78.32%

CCDC60

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 1445140 12 rs2519540
dbSNP Clinvar
119916900 999.0 A G . 0/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.05371 0.05371 0.11618 0.74 0.01 None None None None None None CCDC60|0.005804597|84.82%

CD109

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 1445140 6 rs10455097
dbSNP Clinvar
74493432 999.0 A C . 1/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.51558 0.51560 0.44364 1.00 0.00 None None None None None None CD109|0.035884994|67.17%

CD68

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 1445140 17 rs9901673
dbSNP Clinvar
7484101 999.0 C A . 1/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.15755 0.15750 0.17146 0.06 0.67 None None None None None None CD68|0.111896579|48.87%

CDK11A

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 1445140 1 rs1059830
dbSNP Clinvar
1650797 999.0 A G . 0/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 1.00 0.00 None None None None None None CDK11A|0.02662445|71.07%

CDRT15

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 1445140 17 rs4791565
dbSNP Clinvar
14139891 999.0 A C . 1/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.02157 0.96900 0.18 0.00 None None None None None None CDRT15|0.000811376|96.58%

CENPU

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 1445140 4 rs902174
dbSNP Clinvar
185655171 999.0 C T . 0/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.33726 0.33730 0.19143 0.28 0.00 None None None None None None CENPU|0.009477958|81.29%

CEP63

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 1445140 3 rs1127826
dbSNP Clinvar
134278270 999.0 C T . 0/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.32708 0.32710 0.26734 0.71 0.00 None None None None None None CEP63|0.16402888|41.02%

CHAT

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 1445140 10 rs4838544
dbSNP Clinvar
50856652 999.0 G A . 1/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.96645 0.96650 0.03898 1.00 0.01 None None None None None None CHAT|0.652613184|10%

CHN2

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 1445140 7 rs245881
dbSNP Clinvar
29186576 999.0 A G . 1/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.83227 0.83230 0.68 0.00 None None None None None None CPVL|0.069415572|57.61%,CHN2|0.513485273|15.21%

CILP

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 1445140 15 rs2073711
dbSNP Clinvar
65494212 999.0 A G . 1/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.49661 0.49660 0.36379 0.10 0.00 None None None None None None CILP|0.25593882|31.04%

CNTLN

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 1445140 9 rs3808795
dbSNP Clinvar
17273731 999.0 A G . 0/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.33427 0.33430 0.28424 1.00 0.00 4.28 None None None None None None CNTLN|0.534626587|14.4%

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 1445140 17 rs11650083
dbSNP Clinvar
7847955 999.0 C A . 1/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.60463 0.60460 0.46394 0.37 0.28 None None None None None None CNTROB|0.086163509|53.91%

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 1445140 19 rs2161468
dbSNP Clinvar
10088271 999.0 C G . 1/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.35024 0.35020 0.38990 0.05 None None None None None None COL5A3|0.039580114|65.88%
View 1445140 19 rs2287803
dbSNP Clinvar
10112346 999.0 T C . 1/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.92971 0.92970 0.02391 0.00 None None None None None None COL5A3|0.039580114|65.88%

COLEC12

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 1445140 18 rs2305027
dbSNP Clinvar
334742 999.0 C T . 1/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.36761 0.36760 0.42588 0.06 0.00 2.09 None None None None None None COLEC12|0.362523137|23.25%

CPOX

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 1445140 3 rs1131857
dbSNP Clinvar
98307696 138.0 T G . 0/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.24581 0.24580 0.23835 0.07 0.44 None None None None None None CPOX|0.108402411|49.49%

CPVL

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 1445140 7 . 29035498 999.0 C T . 0/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.22 0.95 None None None None None None CPVL|0.069415572|57.61%

CR1

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 1445140 1 rs2296160
dbSNP Clinvar
207795320 999.0 A G . 1/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.82808 0.82810 0.18299 0.87 0.00 None None None None None None CR1|0.004291335|86.61%

CRTAM

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 1445140 11 rs2272094
dbSNP Clinvar
122738261 999.0 A G . 0/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.55032 0.55030 0.37848 1.00 0.06 None None None None None None CRTAM|0.009908361|80.92%

CTC1

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 1445140 17 rs3826543
dbSNP Clinvar
8132763 999.0 T C . 1/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.66354 0.66350 0.19913 1.00 0.00 None None None None None None CTC1|0.030020163|69.4%

CYP20A1

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 1445140 2 rs2043449
dbSNP Clinvar
204116690 999.0 C T . 1/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.86941 0.86940 0.11187 0.38 0.01 None None None None None None CYP20A1|0.211713855|35.4%

CYP2D7P

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 1445140 22 rs2854741
dbSNP Clinvar
42537404 999.0 G C . 1/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.82768 0.82770 0.00 None None None None None None None

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 1445140 20 rs1127497
dbSNP Clinvar
44038574 999.0 A G . 0/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.76118 0.76120 0.16398 1.00 0.00 None None None None None None DBNDD2|0.078431837|55.57%

DHODH

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 1445140 16 rs3213422
dbSNP Clinvar
72042682 999.0 A C . 0/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.56410 0.56410 0.45535 0.19 0.01 None None None None None None DHODH|0.325470662|25.78%

DLL3

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 1445140 19 rs1110627
dbSNP Clinvar
39994711 999.0 T C . 0/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.62999 0.63000 0.40989 1.00 0.00 None None None None None None DLL3|0.048875309|62.99%

DMD

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 1445140 X rs1800275
dbSNP Clinvar
31893307 999.0 T G . 0/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.18331 0.18330 0.20464 0.00 None None None None None None DMD|0.999751041|0.27%

DNAH14

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 1445140 1 rs3128658
dbSNP Clinvar
225273248 999.0 G T . 1/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.70208 0.70210 0.17487 0.01 None None None None None None DNAH14|0.006049116|84.53%

DNAH6

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 1445140 2 rs28375417
dbSNP Clinvar
84880445 999.0 G C . 0/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.09924 0.09924 0.11569 0.41 0.09 None None None None None None DNAH6|0.093927386|52.39%

DNAH9

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 1445140 17 rs17612861
dbSNP Clinvar
11835331 999.0 G A . 0/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.21006 0.21010 0.24958 0.18 None None None None None None DNAH9|0.176098085|39.51%

DNPEP

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 1445140 2 rs907679
dbSNP Clinvar
220250147 999.0 A G . 1/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 1.00000 1.00000 0.00008 0.71 0.00 None None None None None None DNPEP|0.133178118|45.42%

DPP10

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 1445140 2 rs146482002
dbSNP Clinvar
116598397 999.0 C A . 0/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.00280 0.00280 0.00361 0.03 0.95 None None None None None None DPP10|0.841965077|4.84%

DSCAML1

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 1445140 11 rs3741280
dbSNP Clinvar
117403235 999.0 G T . 0/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.45268 0.45270 0.32269 1.00 0.00 None None None None None None DSCAML1|0.442947255|18.51%

ECE1

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 1445140 1 rs1076669
dbSNP Clinvar
21573855 999.0 G A . 0/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.02855 0.02855 0.05498 0.15 0.09 None None None None None None ECE1|0.516649738|15.12%

ECI2

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 1445140 6 rs7166
dbSNP Clinvar
4116262 999.0 G A . 0/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.30811 0.30810 0.29756 0.05 0.01 None None None None None None C6orf201|0.002009293|90.99%,ECI2|0.043978171|64.53%

EFCAB4A

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 1445140 11 rs28558789
dbSNP Clinvar
829539 999.0 A G . 0/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.66554 0.66550 0.33928 1.00 0.00 1.75 None None None None None None CRACR2B|0.008716499|81.94%

EFS

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 1445140 14 rs2231798
dbSNP Clinvar
23830042 999.0 T C . 0/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.45567 0.45570 0.45788 1.00 0.00 None None None None None None EFS|0.076247181|56.02%

EMR1

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 1445140 19 rs2228539
dbSNP Clinvar
6926378 999.0 T C . 0/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.31969 0.31970 0.37929 0.79 0.00 None None None None None None ADGRE1|0.00211453|90.69%

EPHA1

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 1445140 7 rs6967117
dbSNP Clinvar
143088867 999.0 T C . 1/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.96026 0.96030 0.07712 1.00 0.00 None None None None None None EPHA1|0.09868361|51.45%

EXD3

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 1445140 9 rs7389423
dbSNP Clinvar
140250818 999.0 C T . 1/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.92073 0.92070 0.10805 1.00 0.00 None None None None None None EXD3|0.002541663|89.59%

FAM114A1

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 1445140 4 rs11555334
dbSNP Clinvar
38880046 999.0 T C . 1/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.20288 0.20290 0.28199 0.32 0.00 None None None None None None FAM114A1|0.052850511|61.81%

FAM129C

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 1445140 19 rs8107859
dbSNP Clinvar
17648350 999.0 T C . 1/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.90096 0.90100 0.02124 1.00 0.00 None None None None None None FAM129C|0.003613266|87.58%

FAT2

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 1445140 5 rs200279292
dbSNP Clinvar
150907694 999.0 C A . 0/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.00008 0.67 None None None None None None FAT2|0.05883628|60.19%

FER1L6

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 1445140 8 rs7012186
dbSNP Clinvar
125076589 999.0 T G . 1/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.77336 0.77340 0.15575 1.00 0.00 None None None None None None FER1L6|0.120888602|47.29%

FMN1

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 1445140 15 rs2291065
dbSNP Clinvar
33381000 999.0 A T . 0/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.23343 0.23340 0.00 None None None None None None FMN1|0.549093904|13.77%

FOCAD

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 1445140 9 rs4977881
dbSNP Clinvar
20988426 999.0 A G . 1/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.76857 0.76860 0.25704 1.00 0.00 None None None None None None FOCAD|0.402062048|20.62%
View 1445140 9 rs10511687
dbSNP Clinvar
20764870 999.0 T C . 0/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.28095 0.28100 0.35084 0.98 0.00 None None None None None None FOCAD|0.402062048|20.62%

GAGE12J

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 1445140 X rs7064530
dbSNP Clinvar
49179755 54.0 G A . 0/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.36689 0.36690 0.35475 0.12 0.37 None None None None None None GAGE12J|0.000833405|96.48%

GALNTL5

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 1445140 7 rs6960270
dbSNP Clinvar
151680072 999.0 T C . 1/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.80112 0.80110 0.18069 0.00 1.00 None None None None None None GALNTL5|0.001268389|94.06%

GANC

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 1445140 15 rs8043515
dbSNP Clinvar
42568547 999.0 C G . 1/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.95447 0.95450 0.02061 0.00 None None None None None None GANC|0.071251222|57.16%

GBP3

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 1445140 1 rs113490655
dbSNP Clinvar
89478868 141.0 G A . 0/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.13498 0.13500 0.14193 0.04 0.18 None None None None None None GBP3|0.004390085|86.5%

GCKR

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 1445140 2 rs1260326
dbSNP Clinvar
27730940 999.0 T C . 1/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.70667 0.70670 0.32408 1.00 0.00 None None None None None None GCKR|0.083855811|54.46%

GLYATL2

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 1445140 11 rs11229651
dbSNP Clinvar
58602309 999.0 C T . 0/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.33347 0.33350 0.20998 0.84 0.00 None None None None None None GLYATL2|0.000328807|99.31%

GRK7

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 1445140 3 rs36009541
dbSNP Clinvar
141535558 999.0 A G . 0/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.05611 0.05611 0.10526 0.56 0.00 None None None None None None GRK7|0.041751981|65.2%

HAP1

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 1445140 17 rs4796693
dbSNP Clinvar
39884583 999.0 G A . 0/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.77316 0.77320 0.28341 0.04 0.00 None None None None None None JUP|0.822839641|5.24%,HAP1|0.012770935|78.67%

HEATR5A

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 1445140 14 rs7157977
dbSNP Clinvar
31858209 999.0 C T . 1/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.31090 0.31090 0.24 0.01 None None None None None None HEATR5A|0.279604078|29.11%

HEG1

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 1445140 3 rs2981546
dbSNP Clinvar
124746049 999.0 A G . 0/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.48882 0.48880 0.45841 0.19 0.01 None None None None None None HEG1|0.04030264|65.66%

HERC6

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 1445140 4 rs17014118
dbSNP Clinvar
89319296 999.0 T C . 0/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.55511 0.55510 0.32232 1.00 0.00 None None None None None None HERC6|0.009446474|81.34%

HHLA1

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 1445140 8 rs2280851
dbSNP Clinvar
133089975 999.0 A G . 1/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.74541 0.74540 0.23960 1.00 0.00 None None None None None None HHLA1|0.007496766|83.08%

HIF3A

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 1445140 19 rs3764609
dbSNP Clinvar
46823702 999.0 A G . 0/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.22584 0.22580 0.14762 0.92 0.00 None None None None None None HIF3A|0.050459352|62.51%

HMGXB3

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 1445140 5 rs6579767
dbSNP Clinvar
149406271 999.0 C T . 0/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.80112 0.80110 0.15090 1.00 0.00 None None None None None None HMGXB3|0.367643315|22.89%

HNF4G

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 1445140 8 rs2943549
dbSNP Clinvar
76452313 999.0 G A . 0/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.61182 0.61180 0.32837 1.00 0.00 None None None None None None HNF4G|0.305567429|27.17%

HOOK2

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 1445140 19 rs978482764
dbSNP Clinvar
12875630 999.0 T C . 0/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.03 0.00 None None None None None None HOOK2|0.048125387|63.28%

ICAM3

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 1445140 19 rs7258015
dbSNP Clinvar
10449358 999.0 T C . 0/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.17891 0.17890 0.20852 0.35 0.01 None None None None None None ICAM3|0.000828486|96.5%

IFI35

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 1445140 17 rs588703
dbSNP Clinvar
41165493 999.0 A G . 1/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.97544 0.97540 0.02414 0.14 0.00 None None None None None None IFI35|0.010107368|80.77%