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EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES
DBSNP FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN DBSNP
ESP6500 FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

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EXCLUDE VARIANTS WITHOUT SIFT SCORE
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CADD

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MCAP

EXCLUDE VARIANTS WITHOUT M-CAP SCORE
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Genes at Omim

AFG3L2, ASXL3, ATP8B1, BCL2, CCDC11, CTDP1, DCC, DSC3, DSG1, DSG2, DSG4, ELP2, EPG5, FECH, GREB1L, KDSR, LAMA1, LAMA3, LOXHD1, MC4R, MOCOS, MYO5B, NDUFV2, NEDD4L, PIEZO2, PIGN, RTTN, SERPINB8, SETBP1, SLC14A1, SMAD4, SMCHD1, TAF4B, TCF4, TNFRSF11A,
AFG3L2 Spastic ataxia 5, autosomal recessive, 614487 (3)
Spinocerebellar ataxia 28, 610246 (3)
ASXL3 Bainbridge-Ropers syndrome, 615485 (3)
ATP8B1 Cholestasis, benign recurrent intrahepatic, 243300 (3)
Cholestasis, intrahepatic, of pregnancy, 1, 147480 (3)
Cholestasis, progressive familial intrahepatic 1, 211600 (3)
BCL2 Leukemia/lymphoma, B-cell, 2 (3)
CCDC11 Heterotaxy, visceral, 6, autosomal recessive, 614779 (3)
CTDP1 Congenital cataracts, facial dysmorphism, and neuropathy, 604168 (3)
DCC Gaze palsy, familial horizontal, with progressive scoliosis, 2, 617542 (3)
Colorectal cancer, somatic, 114500 (3)
Esophageal carcinoma, somatic, 133239 (3)
Mirror movements 1 and/or agenesis of the corpus callosum, 157600 (3)
DSC3 ?Hypotrichosis and recurrent skin vesicles, 613102 (3)
DSG1 Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, 615508 (3)
Keratosis palmoplantaris striata I, AD, 148700 (3)
DSG2 Arrhythmogenic right ventricular dysplasia 10, 610193 (3)
Cardiomyopathy, dilated, 1BB, 612877 (3)
DSG4 Hypotrichosis 6, 607903 (3)
ELP2 Mental retardation, autosomal recessive 58, 617270 (3)
EPG5 Vici syndrome, 242840 (3)
FECH Protoporphyria, erythropoietic, 1, 177000 (3)
GREB1L Renal hypodysplasia/aplasia 3, 617805 (3)
KDSR Erythrokeratodermia variabilis et progressiva 4, 617526 (3)
LAMA1 Poretti-Boltshauser syndrome, 615960 (3)
LAMA3 Epidermolysis bullosa, generalized atrophic benign, 226650 (3)
Epidermolysis bullosa, junctional, Herlitz type, 226700 (3)
Laryngoonychocutaneous syndrome, 245660 (3)
LOXHD1 Deafness, autosomal recessive 77, 613079 (3)
MC4R Obesity, autosomal dominant, 601665 (3)
MOCOS Xanthinuria, type II, 603592 (3)
MYO5B Microvillus inclusion disease, 251850 (3)
NDUFV2 Mitochondrial complex I deficiency, nuclear type 7, 618229 (3)
NEDD4L Periventricular nodular heterotopia 7, 617201 (3)
PIEZO2 Arthrogryposis, distal, type 3, 114300 (3)
Arthrogryposis, distal, type 5, 108145 (3)
Arthrogryposis, distal, with impaired proprioception and touch, 617146 (3)
?Marden-Walker syndrome, 248700 (3)
PIGN Multiple congenital anomalies-hypotonia-seizures syndrome 1, 614080 (3)
RTTN Microcephaly, short stature, and polymicrogyria with seizures, 614833 (3)
SERPINB8 Peeling skin syndrome 5, 617115 (3)
SETBP1 Mental retardation, autosomal dominant 29, 616078 (3)
Schinzel-Giedion midface retraction syndrome, 269150 (3)
SLC14A1 [Blood group, Kidd], 111000 (3)
SMAD4 Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050 (3)
Myhre syndrome, 139210 (3)
Pancreatic cancer, somatic, 260350 (3)
Polyposis, juvenile intestinal, 174900 (3)
SMCHD1 Fascioscapulohumeral muscular dystrophy 2, digenic, 158901 (3)
Bosma arhinia microphthalmia syndrome, 603457 (3)
TAF4B ?Spermatogenic failure 13, 615841 (3)
TCF4 Corneal dystrophy, Fuchs endothelial, 3, 613267 (3)
Pitt-Hopkins syndrome, 610954 (3)
TNFRSF11A {Paget disease of bone 2, early-onset}, 602080 (3)
Osteolysis, familial expansile, 174810 (3)
Osteopetrosis, autosomal recessive 7, 612301 (3)

Genes at Clinical Genomics Database

AFG3L2, ASXL3, ATP8B1, CTDP1, DCC, DSC3, DSG1, DSG2, DSG4, EPG5, FECH, LAMA1, LAMA3, LOXHD1, MC4R, MYO5B, NDUFV2, PIEZO2, PIGN, RTTN, SETBP1, SLC14A1, SMAD4, SMCHD1, TAF4B, TCF4, TNFRSF11A,
AFG3L2 Spinocerebellar ataxia 28
Spastic ataxia 5, autosomal recessive
ASXL3 Bainbridge-Ropers syndrome
ATP8B1 Familial intrahepatic cholestasis, recurrent
Cholestasis, progressive familial intrahepatic 1
Intrahepatic cholestasis of pregnancy
CTDP1 Congenital cataracts, facial dysmorphism, and neuropathy
DCC Mirror movements 1
DSC3 Hypotrichosis and recurrent skin vesicles
DSG1 Severe dermatitis, multiple allergies, and metabolic wasting syndrome (SAM syndrome)
DSG2 Cardiomyopathy, dilated, 1BB
Arrhythmogenic right ventricular dysplasia, familial, 10
DSG4 Hypotrichosis 6
EPG5 Vici syndrome
FECH Protoporphyria, erythropoietic
LAMA1 Poretti-Boltshauser syndrome
LAMA3 Laryngoonychocutaneous syndrome
Epidermolysis bullosa, junctional, Herlitz type
Epidermolysis bullosa, generalized atrophic benign
LOXHD1 Deafness, autosomal recessive 77
MC4R Obesity, autosomal dominant
MYO5B Diarrhea 2, with microvillus atrophy
NDUFV2 Mitochondrial complex I deficiency
PIEZO2 Distal arthrogryposis type 3
Distal arthrogryposis type 5
Marden-Walker syndrome
PIGN Multiple congenital anomalies-hypotonia-seizures syndrome 1
RTTN Microcephaly, short stature, and polymicrogyria with or without seizures
SETBP1 Mental retardation, autosomal dominant 29
Schinzel-Giedion midface retraction syndrome
SLC14A1 Blood group, Kidd
SMAD4 Hereditary hemorrhagic telangiectasia, type 1
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Polyposis, juvenile intestinal
Myhre syndrome
SMCHD1 Facioscapulohumeral muscular dystrophy, type 2
TAF4B Spermatogenic failure 13
TCF4 Corneal dystrophy, Fuchs endothelial, 3
Pitt-Hopkins syndrome
TNFRSF11A Familial expansile osteolysis
Paget disease of bone 2, early-onset
Osteopetrosis, autosomal recessive 7

Genes at HGMD

Summary

Number of Variants: 939
Number of Genes: 151

Export to: CSV

ADCYAP1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pdb336 vep 18 rs2856966
dbSNP Clinvar
907710 1026.77 A G . 0/1 71 NON_SYNONYMOUS_CODING MODERATE None 0.14397 0.14400 0.17116 0.27 0.00 1.18 None None None None None None ADCYAP1|0.147854671|43.32%
View pdb336 vep 18 rs8192597
dbSNP Clinvar
907675 1113.77 G A . 0/1 111 SYNONYMOUS_CODING LOW None 0.70208 0.70210 0.34802 None None None None None None ADCYAP1|0.147854671|43.32%

ADNP2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pdb336 vep 18 rs3744877
dbSNP Clinvar
77894844 7697.77 G A . 1/1 230 SYNONYMOUS_CODING LOW None 0.41873 0.41870 0.38413 None None None None None None ADNP2|0.014262869|77.65%

AFG3L2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pdb336 vep 18 rs11553521
dbSNP Clinvar
12348285 4761.77 T C . 1/1 145 SYNONYMOUS_CODING LOW None 0.70986 0.70990 0.22074 None None None None None None AFG3L2|0.258891122|30.83%
View pdb336 vep 18 rs11080572
dbSNP Clinvar
12351342 2982.77 C T . 1/1 92 SYNONYMOUS_CODING LOW None 0.62320 0.62320 0.31386 None None None None None None AFG3L2|0.258891122|30.83%

ALPK2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pdb336 vep 18 rs3809971
dbSNP Clinvar
56204977 2926.77 C T . 0/1 208 SYNONYMOUS_CODING LOW None 0.40415 0.40420 0.49470 None None None None None None ALPK2|0.002935349|88.74%
View pdb336 vep 18 rs3809976
dbSNP Clinvar
56204250 7666.77 A C . 1/1 229 NON_SYNONYMOUS_CODING MODERATE None 0.67213 0.67210 0.31678 0.53 0.08 0.05 None None None None None None ALPK2|0.002935349|88.74%
View pdb336 vep 18 rs7236563
dbSNP Clinvar
56196451 1883.77 C T . 0/1 144 SYNONYMOUS_CODING LOW None 0.37300 0.37300 0.47617 None None None None None None ALPK2|0.002935349|88.74%
View pdb336 vep 18 rs10469212
dbSNP Clinvar
56202418 7458.77 T C . 1/1 222 SYNONYMOUS_CODING LOW None 0.93051 0.93050 0.06874 None None None None None None ALPK2|0.002935349|88.74%
View pdb336 vep 18 rs3809983
dbSNP Clinvar
56202768 2618.77 C A . 0/1 223 NON_SYNONYMOUS_CODING MODERATE None 0.33147 0.33150 0.41027 0.13 0.06 2.30 None None None None None None ALPK2|0.002935349|88.74%
View pdb336 vep 18 rs3826594
dbSNP Clinvar
56202982 6122.77 A T . 1/1 173 SYNONYMOUS_CODING LOW None 0.67292 0.67290 0.31632 None None None None None None ALPK2|0.002935349|88.74%
View pdb336 vep 18 rs3809981
dbSNP Clinvar
56203120 2183.77 C T . 0/1 170 SYNONYMOUS_CODING LOW None 0.32987 0.32990 0.40866 None None None None None None ALPK2|0.002935349|88.74%
View pdb336 vep 18 rs3809980
dbSNP Clinvar
56203411 5760.77 G C . 1/1 173 SYNONYMOUS_CODING LOW None 0.67153 0.67150 0.31678 None None None None None None ALPK2|0.002935349|88.74%
View pdb336 vep 18 rs3809979
dbSNP Clinvar
56203447 5995.77 A G . 1/1 170 SYNONYMOUS_CODING LOW None 0.67173 0.67170 0.31678 None None None None None None ALPK2|0.002935349|88.74%
View pdb336 vep 18 rs3809978
dbSNP Clinvar
56203891 7082.77 G T . 1/1 161 SYNONYMOUS_CODING LOW None 0.67173 0.67170 0.31708 None None None None None None ALPK2|0.002935349|88.74%
View pdb336 vep 18 rs3809982
dbSNP Clinvar
56203074 1971.77 G A . 0/1 158 NON_SYNONYMOUS_CODING MODERATE None 0.32927 0.32930 0.40855 0.05 0.91 3.85 None None None None None None ALPK2|0.002935349|88.74%
View pdb336 vep 18 rs3809977
dbSNP Clinvar
56203898 6954.77 T G . 1/1 155 NON_SYNONYMOUS_CODING MODERATE None 0.67173 0.67170 0.31747 0.05 0.40 1.16 None None None None None None ALPK2|0.002935349|88.74%
View pdb336 vep 18 rs67925233
dbSNP Clinvar
56204387 1949.73 AC... A . 0/1 163 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.40196 0.40200 None None None None None None ALPK2|0.002935349|88.74%
View pdb336 vep 18 rs55910046
dbSNP Clinvar
56204410 2142.77 C T . 0/1 158 SYNONYMOUS_CODING LOW None 0.40435 0.40440 0.43487 None None None None None None ALPK2|0.002935349|88.74%
View pdb336 vep 18 rs12963422
dbSNP Clinvar
56204644 1241.77 T G . 0/1 101 SYNONYMOUS_CODING LOW None 0.33746 0.33750 0.28741 None None None None None None ALPK2|0.002935349|88.74%
View pdb336 vep 18 rs4940404
dbSNP Clinvar
56204671 1532.77 A T . 0/1 85 NON_SYNONYMOUS_CODING MODERATE None 0.40415 0.40420 0.49439 0.12 0.20 2.06 None None None None None None ALPK2|0.002935349|88.74%
View pdb336 vep 18 rs3826593
dbSNP Clinvar
56204747 3158.77 G A . 1/1 98 NON_SYNONYMOUS_CODING MODERATE None 0.79852 0.79850 0.15624 0.97 0.00 0.32 None None None None None None ALPK2|0.002935349|88.74%
View pdb336 vep 18 rs3809973
dbSNP Clinvar
56204932 2503.77 T G . 0/1 170 NON_SYNONYMOUS_CODING MODERATE None 0.40435 0.40440 0.49470 0.02 0.52 4.17 None None None None None None ALPK2|0.002935349|88.74%
View pdb336 vep 18 rs3809972
dbSNP Clinvar
56204945 2774.77 C G . 0/1 187 NON_SYNONYMOUS_CODING MODERATE None 0.40415 0.40420 0.49462 0.34 0.00 0.21 None None None None None None ALPK2|0.002935349|88.74%
View pdb336 vep 18 rs3809970
dbSNP Clinvar
56204991 2811.77 C T . 0/1 209 NON_SYNONYMOUS_CODING MODERATE None 0.40355 0.40360 0.49462 0.10 0.09 1.12 None None None None None None ALPK2|0.002935349|88.74%
View pdb336 vep 18 rs12103986
dbSNP Clinvar
56205262 2637.77 A C . 0/1 219 NON_SYNONYMOUS_CODING MODERATE None 0.00060 0.40440 0.49408 0.76 0.00 -0.08 None None None None None None ALPK2|0.002935349|88.74%
View pdb336 vep 18 rs12606191
dbSNP Clinvar
56246442 4377.77 T C . 0/1 316 SYNONYMOUS_CODING LOW None 0.37340 0.37340 0.29586 None None None None None None ALPK2|0.002935349|88.74%
View pdb336 vep 18 rs9958735
dbSNP Clinvar
56247180 2227.77 T C . 0/1 187 SYNONYMOUS_CODING LOW None 0.51018 0.51020 0.47932 None None None None None None ALPK2|0.002935349|88.74%
View pdb336 vep 18 rs9956630
dbSNP Clinvar
56247567 1981.77 A G . 0/1 160 SYNONYMOUS_CODING LOW None 0.48283 0.48280 0.45052 None None None None None None ALPK2|0.002935349|88.74%
View pdb336 vep 18 rs9944810
dbSNP Clinvar
56247600 1536.77 C A . 0/1 145 NON_SYNONYMOUS_CODING MODERATE None 0.48283 0.48280 0.44919 1.00 0.00 -1.12 None None None None None None ALPK2|0.002935349|88.74%
View pdb336 vep 18 rs6566987
dbSNP Clinvar
56279025 2708.77 T G . 1/1 92 NON_SYNONYMOUS_CODING MODERATE None 0.94070 0.94070 0.15807 1.00 0.00 0.15 None None None None None None ALPK2|0.002935349|88.74%
View pdb336 vep 18 rs55647142
dbSNP Clinvar
56184297 1902.77 C T . 0/1 155 NON_SYNONYMOUS_CODING MODERATE None 0.00020 0.00020 0.00069 0.00 1.00 5.51 0.13 0.81641 D None None None None ALPK2|0.002935349|88.74%
View pdb336 vep 18 rs7240666
dbSNP Clinvar
56149099 2806.77 T C . 0/1 213 NON_SYNONYMOUS_CODING MODERATE None 0.92153 0.92150 0.16754 1.00 0.00 -2.28 None None None None None None ALPK2|0.002935349|88.74%

ANKRD12

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pdb336 vep 18 rs59633812
dbSNP Clinvar
9275542 1226.77 C T . 0/1 148 SYNONYMOUS_CODING LOW None 0.04613 0.04613 0.06597 None None None None None None ANKRD12|0.456435861|17.86%
View pdb336 vep 18 rs3744822
dbSNP Clinvar
9258537 2340.77 T C . 0/1 139 NON_SYNONYMOUS_CODING MODERATE None 0.06210 0.06210 0.08404 0.32 0.00 0.16 None None None None None None ANKRD12|0.456435861|17.86%
View pdb336 vep 18 rs3744823
dbSNP Clinvar
9258531 2406.77 C T . 0/1 149 SYNONYMOUS_CODING LOW None 0.06210 0.06210 0.08412 None None None None None None ANKRD12|0.456435861|17.86%
View pdb336 vep 18 rs17499116
dbSNP Clinvar
9275563 1454.77 T G . 0/1 177 SYNONYMOUS_CODING LOW None 0.04613 0.04613 0.06589 None None None None None None ANKRD12|0.456435861|17.86%
View pdb336 vep 18 rs72939232
dbSNP Clinvar
9255784 1769.77 C A . 0/1 140 NON_SYNONYMOUS_CODING MODERATE None 0.05950 0.05950 0.07591 1.00 0.00 -2.19 None None None None None None ANKRD12|0.456435861|17.86%
View pdb336 vep 18 rs17498752
dbSNP Clinvar
9254785 1465.77 C T . 0/1 139 NON_SYNONYMOUS_CODING MODERATE None 0.04613 0.04613 0.06509 0.01 0.12 3.20 None None None None None None ANKRD12|0.456435861|17.86%
View pdb336 vep 18 rs2298548
dbSNP Clinvar
9221883 1563.77 C G . 0/1 164 NON_SYNONYMOUS_CODING MODERATE None 0.04633 0.04633 0.06697 0.31 0.03 1.75 None None None None None None ANKRD12|0.456435861|17.86%
View pdb336 vep 18 rs4798791
dbSNP Clinvar
9255982 1488.77 A G . 0/1 112 NON_SYNONYMOUS_CODING MODERATE None 0.61342 0.61340 0.45472 0.07 0.22 3.34 None None None None None None ANKRD12|0.456435861|17.86%

ANKRD30B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pdb336 vep 18 rs28555630
dbSNP Clinvar
14848821 1082.77 G A . 0/1 88 SYNONYMOUS_CODING LOW None 0.46965 0.46960 None None None None None None ANKRD30B|0.000995671|95.47%
View pdb336 vep 18 rs12386087
dbSNP Clinvar
14852335 1807.77 C A . 1/1 54 NON_SYNONYMOUS_CODING MODERATE None 0.96825 0.96830 0.37 0.00 0.44 None None None None None None ANKRD30B|0.000995671|95.47%
View pdb336 vep 18 rs12457503
dbSNP Clinvar
14752957 2563.77 G A . 1/1 78 SYNONYMOUS_CODING LOW None 0.51997 0.52000 0.48489 None None None None None None ANKRD30B|0.000995671|95.47%
View pdb336 vep 18 rs9675365
dbSNP Clinvar
14779969 1557.77 C G . 0/1 174 NON_SYNONYMOUS_CODING MODERATE None 0.46566 0.46570 0.29 0.04 1.21 None None None None None None ANKRD30B|0.000995671|95.47%
View pdb336 vep 18 rs76927023
dbSNP Clinvar
14779986 159.77 G A . 0/1 187 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 -0.19 None None None None None None ANKRD30B|0.000995671|95.47%
View pdb336 vep 18 rs72873710
dbSNP Clinvar
14780019 1065.77 G T . 0/1 144 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.06 0.19 -0.18 None None None None None None ANKRD30B|0.000995671|95.47%
View pdb336 vep 18 rs9676225
dbSNP Clinvar
14851756 211.77 G A . 0/1 109 SYNONYMOUS_CODING LOW None 0.52855 0.52860 None None None None None None ANKRD30B|0.000995671|95.47%
View pdb336 vep 18 rs4090319
dbSNP Clinvar
14848820 1300.77 C T . 0/1 90 NON_SYNONYMOUS_CODING MODERATE None 0.40076 0.40080 1.00 0.00 -0.97 None None None None None None ANKRD30B|0.000995671|95.47%

ANKRD62

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pdb336 vep 18 rs189328462
dbSNP Clinvar
12126055 2000.77 G A . 0/1 221 SYNONYMOUS_CODING LOW None 0.00020 0.00020 None None None None None None ANKRD62|0.00149963|92.78%
View pdb336 vep 18 rs7243248
dbSNP Clinvar
12125657 1823.77 G A . 0/1 111 NON_SYNONYMOUS_CODING MODERATE None 0.54653 0.54650 1.00 0.00 -0.19 None None None None None None ANKRD62|0.00149963|92.78%
View pdb336 vep 18 rs1986751
dbSNP Clinvar
12096249 2451.77 G T . 0/1 270 NON_SYNONYMOUS_CODING MODERATE None 0.52456 0.52460 0.08 0.00 0.38 None None None None None None ANKRD62|0.00149963|92.78%
View pdb336 vep 18 rs6505715
dbSNP Clinvar
12099654 1611.77 T C . 0/1 145 NON_SYNONYMOUS_CODING MODERATE None 0.52436 0.52440 0.42 0.00 -1.68 None None None None None None ANKRD62|0.00149963|92.78%

AP005482.1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pdb336 vep 18 rs1062235
dbSNP Clinvar
12658600 1300.77 A G . 0/1 114 SYNONYMOUS_CODING LOW None 0.29952 0.29950 None None None None None None None

ARHGAP28

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pdb336 vep 18 rs1116757
dbSNP Clinvar
6890434 4815.77 A G . 1/1 143 SYNONYMOUS_CODING LOW None 0.56310 0.56310 0.43395 None None None None None None ARHGAP28|0.058067092|60.37%
View pdb336 vep 18 rs1056408
dbSNP Clinvar
6912143 2248.77 A C . 1/1 64 NON_SYNONYMOUS_CODING MODERATE None 0.72923 0.72920 0.16408 1.00 0.00 -1.60 None None None None None None ARHGAP28|0.058067092|60.37%
View pdb336 vep 18 rs4239328
dbSNP Clinvar
6889973 7485.77 A G . 1/1 233 SYNONYMOUS_CODING LOW None 0.56090 0.56090 0.42934 None None None None None None ARHGAP28|0.058067092|60.37%

ASXL3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pdb336 vep 18 rs7232237
dbSNP Clinvar
31324934 5640.77 A G . 1/1 174 NON_SYNONYMOUS_CODING MODERATE None 0.67911 0.67910 0.41347 1.00 0.00 -3.98 None None None None None None ASXL3|0.548869749|13.78%
View pdb336 vep 18 rs2282632
dbSNP Clinvar
31320229 3628.77 A G . 1/1 105 NON_SYNONYMOUS_CODING MODERATE None 0.70328 0.70330 0.39929 0.17 0.00 -0.13 None None None None None None ASXL3|0.548869749|13.78%
View pdb336 vep 18 rs61995734
dbSNP Clinvar
31323848 2139.77 A G . 0/1 185 NON_SYNONYMOUS_CODING MODERATE None 0.02456 0.02456 0.02898 0.21 0.00 0.62 None None None None None None ASXL3|0.548869749|13.78%

ATP8B1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pdb336 vep 18 rs319443
dbSNP Clinvar
55362532 6507.77 T G . 1/1 192 SYNONYMOUS_CODING LOW None 0.99261 0.99260 0.01031 None None None None None None ATP8B1|0.161108429|41.4%
View pdb336 vep 18 rs319438
dbSNP Clinvar
55364852 2329.77 A G . 1/1 71 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.99461 0.99460 0.00692 None None None None None None ATP8B1|0.161108429|41.4%
View pdb336 vep 18 rs222581
dbSNP Clinvar
55317676 7105.77 C T . 1/1 216 NON_SYNONYMOUS_CODING MODERATE None 0.99980 0.99980 0.00123 1.00 0.00 0.63 None None None None None None ATP8B1|0.161108429|41.4%

ATP9B

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pdb336 vep 18 rs3760541
dbSNP Clinvar
77067000 5077.77 T G . 1/1 159 SYNONYMOUS_CODING LOW None 0.40336 0.40340 0.42219 None None None None None None ATP9B|0.095143963|52.07%

BCL2

Omim - GeneCards - NCBI
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View pdb336 vep 18 rs1801018
dbSNP Clinvar
60985879 8626.77 T C . 1/1 267 SYNONYMOUS_CODING LOW None 0.24321 0.24320 0.31045 None None None None None None BCL2|0.938364507|2.54%

BOD1L2

Omim - GeneCards - NCBI
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View pdb336 vep 18 rs58215084
dbSNP Clinvar
54814730 2273.77 G A . 0/1 157 NON_SYNONYMOUS_CODING MODERATE None 0.05471 0.05471 0.05 0.10 2.62 None None None None None None BOD1L2|0.00341202|87.92%
View pdb336 vep 18 rs11151997
dbSNP Clinvar
54815025 1242.77 G T . 0/1 92 NON_SYNONYMOUS_CODING MODERATE None 0.56809 0.56810 0.17 0.01 -0.07 None None None None None None BOD1L2|0.00341202|87.92%
View pdb336 vep 18 rs79220676
dbSNP Clinvar
54814771 2991.77 G A . 0/1 193 SYNONYMOUS_CODING LOW None 0.03494 0.03494 None None None None None None BOD1L2|0.00341202|87.92%

C18orf25

Omim - GeneCards - NCBI
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View pdb336 vep 18 rs34068795,rs397790301
dbSNP Clinvar
43833701 5926.73 T TCTG . 1/1 130 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.69269 0.69270 None None None None None None C18orf25|0.503978181|15.65%

C18orf63

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pdb336 vep 18 rs12606060
dbSNP Clinvar
72021717 3668.77 T C . 1/1 114 NON_SYNONYMOUS_CODING MODERATE None 0.99820 0.99820 1.00 0.00 -0.19 None None None None None None C18orf63|0.018173124|75.19%

CABYR

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pdb336 vep 18 rs1049683
dbSNP Clinvar
21736933 3357.77 T G . 1/1 104 NON_SYNONYMOUS_CODING MODERATE None 0.85324 0.85320 0.15538 1.00 0.00 1.63 None None None None None None CABYR|0.10325602|50.56%
View pdb336 vep 18 rs1049684
dbSNP Clinvar
21739725 2036.77 T C . 0/1 148 None None None 0.47125 0.47120 0.41788 None None None None None None CABYR|0.10325602|50.56%

CBLN2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pdb336 vep 18 rs7237888
dbSNP Clinvar
70209321 1732.77 C A . 1/1 53 SYNONYMOUS_CODING LOW None 0.56310 0.56310 0.24141 None None None None None None CBLN2|0.157579656|41.93%

CCDC102B

Omim - GeneCards - NCBI
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View pdb336 vep 18 rs745894
dbSNP Clinvar
66542006 3808.77 G T . 1/1 124 NON_SYNONYMOUS_CODING MODERATE None 0.19569 0.19570 0.20421 0.63 0.00 -1.49 None None None None None None CCDC102B|0.006657119|83.88%
View pdb336 vep 18 rs572020
dbSNP Clinvar
66504459 3059.77 A T . 1/1 87 NON_SYNONYMOUS_CODING MODERATE None 0.92093 0.92090 0.07229 0.55 0.01 -0.46 None None None None None None CCDC102B|0.006657119|83.88%
View pdb336 vep 18 rs485613
dbSNP Clinvar
66504093 6576.77 A C . 1/1 196 SYNONYMOUS_CODING LOW None 0.92093 0.92090 0.07538 None None None None None None CCDC102B|0.006657119|83.88%

CCDC11

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pdb336 vep 18 rs35193847
dbSNP Clinvar
47777244 2149.77 C T . 0/1 156 NON_SYNONYMOUS_CODING MODERATE None 0.19349 0.19350 0.30506 0.04 0.25 2.37 None None None None None None CFAP53|0.02234551|72.99%

CCDC178

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pdb336 vep 18 rs9965081
dbSNP Clinvar
30846895 3233.77 A T . 1/1 96 NON_SYNONYMOUS_CODING MODERATE None 0.93251 0.93250 0.09595 0.98 0.00 -0.93 None None None None None None CCDC178|0.012849829|78.59%
View pdb336 vep 18 rs466113
dbSNP Clinvar
30804756 2861.77 C T . 1/1 91 NON_SYNONYMOUS_CODING MODERATE None 0.99541 0.99540 0.00477 0.01 0.00 1.12 None None None None None None CCDC178|0.012849829|78.59%

CCDC68

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pdb336 vep 18 rs72928889
dbSNP Clinvar
52605279 1411.77 C T . 0/1 152 NON_SYNONYMOUS_CODING MODERATE None 0.01298 0.01298 0.02614 1.00 0.35 -0.39 None None None None None None CCDC68|0.06035994|59.77%

CDH19

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pdb336 vep 18 rs72954429
dbSNP Clinvar
64211251 877.77 C T . 0/1 68 NON_SYNONYMOUS_CODING MODERATE None 0.08247 0.08247 0.10449 0.15 0.01 1.57 None None None None None None CDH19|0.03445316|67.64%

CDH2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pdb336 vep 18 rs41274322
dbSNP Clinvar
25593713 2071.77 G C . 0/1 159 SYNONYMOUS_CODING LOW None 0.04633 0.04633 0.04529 None None None None None None CDH2|0.998144482|0.55%
View pdb336 vep 18 rs1220144
dbSNP Clinvar
25565082 7901.77 A G . 1/1 247 SYNONYMOUS_CODING LOW None 0.99002 0.99000 0.01000 None None None None None None CDH2|0.998144482|0.55%
View pdb336 vep 18 rs1628684
dbSNP Clinvar
25570228 7476.77 G C . 1/1 232 SYNONYMOUS_CODING LOW None 0.99361 0.99360 0.00638 None None None None None None CDH2|0.998144482|0.55%
View pdb336 vep 18 rs17445840
dbSNP Clinvar
25593694 1715.77 C T . 0/1 150 NON_SYNONYMOUS_CODING MODERATE None 0.04633 0.04633 0.04498 0.87 0.01 1.62 None None None None None None CDH2|0.998144482|0.55%

CDH20

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pdb336 vep 18 rs1943330
dbSNP Clinvar
59174759 797.77 C A . 0/1 66 NON_SYNONYMOUS_CODING MODERATE None 0.05931 0.05931 0.10334 0.09 0.98 4.93 None None None None None None CDH20|0.521854874|14.91%
View pdb336 vep 18 rs595093
dbSNP Clinvar
59170304 3882.77 C G . 1/1 111 SYNONYMOUS_CODING LOW None 0.99581 0.99580 0.00461 None None None None None None CDH20|0.521854874|14.91%
View pdb336 vep 18 rs12964819
dbSNP Clinvar
59166541 1352.77 C T . 0/1 114 SYNONYMOUS_CODING LOW None 0.62220 0.62220 0.34100 None None None None None None CDH20|0.521854874|14.91%

CDH7

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pdb336 vep 18 rs8097752
dbSNP Clinvar
63489378 4165.77 C T . 1/1 124 SYNONYMOUS_CODING LOW None 0.85284 0.85280 0.13917 None None None None None None CDH7|0.157743367|41.9%
View pdb336 vep 18 rs2306675
dbSNP Clinvar
63511176 7784.77 T C . 1/1 245 SYNONYMOUS_CODING LOW None 0.18610 0.18610 0.28987 None None None None None None CDH7|0.157743367|41.9%

CELF4

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pdb336 vep 18 rs1443638
dbSNP Clinvar
34850846 2815.77 G A . 1/1 84 SYNONYMOUS_CODING LOW None 0.21546 0.21550 0.30524 None None None None None None CELF4|0.8655122|4.37%

CEP192

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 pdb336 vep 18 rs2282541
dbSNP Clinvar
13056333 6767.77 C T . 1/1 200 SYNONYMOUS_CODING LOW None 0.24621 0.24620 0.29386 None None None None None None CEP192|0.030811627|69.03%
View pdb336 vep 18 rs11080623
dbSNP Clinvar
13055915 1775.77 A C . 0/1 143 NON_SYNONYMOUS_CODING MODERATE None 0.00779 0.00779 0.02291 0.04 0.01 -0.28 None None None None None None CEP192|0.030811627|69.03%
View pdb336 vep 18 rs1786263
dbSNP Clinvar
13116432 5203.77 G T . 1/1 159 NON_SYNONYMOUS_CODING MODERATE None 0.77556 0.77560 0.28087 1.00 0.00 2.98 None None None None None None CEP192|0.030811627|69.03%
View pdb336 vep 18 rs578208
dbSNP Clinvar
13068132 5619.77 T C . 1/1 159 NON_SYNONYMOUS_CODING MODERATE None 0.74720 0.74720 0.31624 1.00 0.00 1.07 None None None None None None CEP192|0.030811627|69.03%
View pdb336 vep 18 rs6505780
dbSNP Clinvar
13069782 4241.77 C T . 1/1 140 NON_SYNONYMOUS_CODING MODERATE None 0.77017 0.77020 0.29148 1.00 0.00 1.12 None None None None None None CEP192|0.030811627|69.03%
View pdb336 vep 18 rs474337
dbSNP Clinvar
13095609 4035.77 T C . 1/1 120 NON_SYNONYMOUS_CODING MODERATE None 0.76997 0.77000 0.29133 0.07 0.00 0.21 None None None None None None CEP192|0.030811627|69.03%
View pdb336 vep 18 rs4499304
dbSNP Clinvar
13001512 2414.77 G C . 1/1 74 NON_SYNONYMOUS_CODING MODERATE None 0.43071 0.43070 0.61 0.00 -1.90 None None None None None None CEP192|0.030811627|69.03%
View pdb336 vep 18 rs11080618
dbSNP Clinvar
13001523 2939.77 G A . 1/1 93 NON_SYNONYMOUS_CODING MODERATE None 0.27416 0.27420 0.03 0.01 0.34 None None None None None None CEP192|0.030811627|69.03%

CIDEA

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View pdb336 vep 18 rs11873135
dbSNP Clinvar
12254785 987.77 G C . 0/1 101 None None None 0.17572 0.17570 0.15355 0.00 None None None None None None CIDEA|0.01791692|75.33%