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EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES
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EXCLUDE ALL VARIANTS PRESENT IN DBSNP
ESP6500 FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

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CADD

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MCAP

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Genes at Omim

AFG3L2, ASXL3, ATP8B1, CCBE1, CCDC11, CTDP1, DCC, DSC3, DSG1, DSG2, DSG4, EPG5, FECH, GREB1L, LAMA1, LAMA3, LMAN1, LOXHD1, MOCOS, MYO5B, NDUFV2, NEDD4L, NPC1, NPC1, PIEZO2, PIGN, RAX, RTTN, SERPINB7, SERPINB8, SETBP1, SLC14A1, SMAD4, SMCHD1, TAF4B, TCF4, TGIF1, TNFRSF11A, TUBB6,
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)
CCBE1 Hennekam lymphangiectasia-lymphedema syndrome 1, 235510 (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)
EPG5 Vici syndrome, 242840 (3)
FECH Protoporphyria, erythropoietic, 1, 177000 (3)
GREB1L Renal hypodysplasia/aplasia 3, 617805 (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)
LMAN1 Combined factor V and VIII deficiency, 227300 (3)
LOXHD1 Deafness, autosomal recessive 77, 613079 (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)
NPC1 {Nasopharyngeal carcinoma 1} (2)
NPC1 Niemann-Pick disease, type C1, 257220 (3)
Niemann-Pick disease, type D, 257220 (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)
RAX Microphthalmia, isolated 3, 611038 (3)
RTTN Microcephaly, short stature, and polymicrogyria with seizures, 614833 (3)
SERPINB7 Palmoplantar keratoderma, Nagashima type, 615598 (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)
TGIF1 Holoprosencephaly 4, 142946 (3)
TNFRSF11A {Paget disease of bone 2, early-onset}, 602080 (3)
Osteolysis, familial expansile, 174810 (3)
Osteopetrosis, autosomal recessive 7, 612301 (3)
TUBB6 ?Facial palsy, congenitla, with ptosis and velopharyngeal dysfunction, 617732 (3)

Genes at Clinical Genomics Database

AFG3L2, ASXL3, ATP8B1, CCBE1, CTDP1, DCC, DSC3, DSG1, DSG2, DSG4, EPG5, FECH, LAMA1, LAMA3, LMAN1, LOXHD1, MYO5B, NDUFV2, NPC1, PIEZO2, PIGN, RAX, RTTN, SERPINB7, SETBP1, SLC14A1, SMAD4, SMCHD1, TAF4B, TCF4, TGIF1, 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
CCBE1 Hennekam lymphangiectasia-lymphedema syndrome
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
LMAN1 Combined factor V and VIII deficiency
LOXHD1 Deafness, autosomal recessive 77
MYO5B Diarrhea 2, with microvillus atrophy
NDUFV2 Mitochondrial complex I deficiency
NPC1 Niemann-Pick disease, type C1
Niemann-Pick disease, type D
PIEZO2 Distal arthrogryposis type 3
Distal arthrogryposis type 5
Marden-Walker syndrome
PIGN Multiple congenital anomalies-hypotonia-seizures syndrome 1
RAX Microphthalmia, isolated 3
RTTN Microcephaly, short stature, and polymicrogyria with or without seizures
SERPINB7 Palmoplantar keratoderma, Nagashima type
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
TGIF1 Holoprosencephaly 4
TNFRSF11A Familial expansile osteolysis
Paget disease of bone 2, early-onset
Osteopetrosis, autosomal recessive 7

Genes at HGMD

Summary

Number of Variants: 1000
Number of Genes: 155

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 32 18 rs2231187
dbSNP Clinvar
909561 262.77 A G . 0/1 21 SYNONYMOUS_CODING LOW None 0.20248 0.20250 0.25727 None None None None None None ADCYAP1|0.147854671|43.32%
View 32 18 rs8192597
dbSNP Clinvar
907675 466.77 G A . 1/1 15 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 32 18 rs78503084
dbSNP Clinvar
77893552 350.77 A G . 0/1 21 NON_SYNONYMOUS_CODING MODERATE None 0.00419 0.00419 0.00738 0.14 0.01 None None None None None None ADNP2|0.014262869|77.65%
View 32 18 rs1064059
dbSNP Clinvar
77893683 1666.77 A G . 1/1 55 SYNONYMOUS_CODING LOW None 0.12480 0.12480 0.18192 None None None None None None ADNP2|0.014262869|77.65%
View 32 18 rs3744878
dbSNP Clinvar
77895192 1013.77 G A . 1/1 31 SYNONYMOUS_CODING LOW None 0.10963 0.10960 0.14793 None None None None None None ADNP2|0.014262869|77.65%
View 32 18 rs1064058
dbSNP Clinvar
77891039 593.77 T A . 1/1 21 SYNONYMOUS_CODING LOW None 0.12500 0.12500 0.18176 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 32 18 rs11553521
dbSNP Clinvar
12348285 1079.77 T C . 1/1 33 SYNONYMOUS_CODING LOW None 0.70986 0.70990 0.22074 None None None None None None AFG3L2|0.258891122|30.83%
View 32 18 rs11080572
dbSNP Clinvar
12351342 652.77 C T . 1/1 20 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 32 18 rs3809973
dbSNP Clinvar
56204932 836.77 T G . 0/1 70 NON_SYNONYMOUS_CODING MODERATE None 0.40435 0.40440 0.49470 0.02 0.52 None None None None None None ALPK2|0.002935349|88.74%
View 32 18 rs3826593
dbSNP Clinvar
56204747 1070.77 G A . 1/1 32 NON_SYNONYMOUS_CODING MODERATE None 0.79852 0.79850 0.15624 0.97 0.00 None None None None None None ALPK2|0.002935349|88.74%
View 32 18 rs4940404
dbSNP Clinvar
56204671 435.77 A T . 0/1 29 NON_SYNONYMOUS_CODING MODERATE None 0.40415 0.40420 0.49439 0.12 0.20 None None None None None None ALPK2|0.002935349|88.74%
View 32 18 rs12963422
dbSNP Clinvar
56204644 326.77 T G . 0/1 27 SYNONYMOUS_CODING LOW None 0.33746 0.33750 0.28741 None None None None None None ALPK2|0.002935349|88.74%
View 32 18 rs55910046
dbSNP Clinvar
56204410 684.77 C T . 0/1 43 SYNONYMOUS_CODING LOW None 0.40435 0.40440 0.43487 None None None None None None ALPK2|0.002935349|88.74%
View 32 18 rs67925233
dbSNP Clinvar
56204387 3110.73 AC... A . 0/1 47 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.40196 0.40200 None None None None None None ALPK2|0.002935349|88.74%
View 32 18 rs3809976
dbSNP Clinvar
56204250 1794.77 A C . 1/1 53 NON_SYNONYMOUS_CODING MODERATE None 0.67213 0.67210 0.31678 0.53 0.08 None None None None None None ALPK2|0.002935349|88.74%
View 32 18 rs7240666
dbSNP Clinvar
56149099 367.77 T C . 0/1 34 NON_SYNONYMOUS_CODING MODERATE None 0.92153 0.92150 0.16754 1.00 0.00 None None None None None None ALPK2|0.002935349|88.74%
View 32 18 rs6566987
dbSNP Clinvar
56279025 34.77 T G . 0/1 5 NON_SYNONYMOUS_CODING MODERATE None 0.94070 0.94070 0.15807 1.00 0.00 None None None None None None ALPK2|0.002935349|88.74%
View 32 18 rs12103986
dbSNP Clinvar
56205262 1176.77 A C . 0/1 81 NON_SYNONYMOUS_CODING MODERATE None 0.00060 0.40440 0.49408 0.76 0.00 None None None None None None ALPK2|0.002935349|88.74%
View 32 18 rs3809970
dbSNP Clinvar
56204991 670.77 C T . 0/1 66 NON_SYNONYMOUS_CODING MODERATE None 0.40355 0.40360 0.49462 0.10 0.09 None None None None None None ALPK2|0.002935349|88.74%
View 32 18 rs3809971
dbSNP Clinvar
56204977 645.77 C T . 0/1 68 SYNONYMOUS_CODING LOW None 0.40415 0.40420 0.49470 None None None None None None ALPK2|0.002935349|88.74%
View 32 18 rs3809972
dbSNP Clinvar
56204945 804.77 C G . 0/1 73 NON_SYNONYMOUS_CODING MODERATE None 0.40415 0.40420 0.49462 0.34 0.00 None None None None None None ALPK2|0.002935349|88.74%
View 32 18 rs3809978
dbSNP Clinvar
56203891 799.77 G T . 1/1 23 SYNONYMOUS_CODING LOW None 0.67173 0.67170 0.31708 None None None None None None ALPK2|0.002935349|88.74%
View 32 18 rs3809979
dbSNP Clinvar
56203447 967.77 A G . 1/1 30 SYNONYMOUS_CODING LOW None 0.67173 0.67170 0.31678 None None None None None None ALPK2|0.002935349|88.74%
View 32 18 rs3809980
dbSNP Clinvar
56203411 910.77 G C . 1/1 27 SYNONYMOUS_CODING LOW None 0.67153 0.67150 0.31678 None None None None None None ALPK2|0.002935349|88.74%
View 32 18 rs3809981
dbSNP Clinvar
56203120 487.77 C T . 0/1 37 SYNONYMOUS_CODING LOW None 0.32987 0.32990 0.40866 None None None None None None ALPK2|0.002935349|88.74%
View 32 18 rs3809982
dbSNP Clinvar
56203074 278.77 G A . 0/1 31 NON_SYNONYMOUS_CODING MODERATE None 0.32927 0.32930 0.40855 0.05 0.91 None None None None None None ALPK2|0.002935349|88.74%
View 32 18 rs3826594
dbSNP Clinvar
56202982 745.77 A T . 1/1 21 SYNONYMOUS_CODING LOW None 0.67292 0.67290 0.31632 None None None None None None ALPK2|0.002935349|88.74%
View 32 18 rs3809983
dbSNP Clinvar
56202768 557.77 C A . 0/1 44 NON_SYNONYMOUS_CODING MODERATE None 0.33147 0.33150 0.41027 0.13 0.06 None None None None None None ALPK2|0.002935349|88.74%
View 32 18 rs10469212
dbSNP Clinvar
56202418 1708.77 T C . 1/1 52 SYNONYMOUS_CODING LOW None 0.93051 0.93050 0.06874 None None None None None None ALPK2|0.002935349|88.74%
View 32 18 rs7236563
dbSNP Clinvar
56196451 185.77 C T . 0/1 17 SYNONYMOUS_CODING LOW None 0.37300 0.37300 0.47617 None None None None None None ALPK2|0.002935349|88.74%
View 32 18 rs3809977
dbSNP Clinvar
56203898 831.77 T G . 1/1 24 NON_SYNONYMOUS_CODING MODERATE None 0.67173 0.67170 0.31747 0.05 0.40 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 32 18 rs141484109
dbSNP Clinvar
9255081 127.77 A G . 0/1 12 NON_SYNONYMOUS_CODING MODERATE None 0.00280 0.00280 0.00062 0.00 0.05 None None None None None None ANKRD12|0.456435861|17.86%
View 32 18 rs4798791
dbSNP Clinvar
9255982 243.8 A G . 1/1 8 NON_SYNONYMOUS_CODING MODERATE None 0.61342 0.61340 0.45472 0.07 0.22 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 32 18 rs9676225
dbSNP Clinvar
14851756 469.77 G A . 1/1 16 SYNONYMOUS_CODING LOW None 0.52855 0.52860 None None None None None None ANKRD30B|0.000995671|95.47%
View 32 18 rs3126404
dbSNP Clinvar
14850375 572.77 G A . 1/1 21 SYNONYMOUS_CODING LOW None 0.47244 0.47240 None None None None None None ANKRD30B|0.000995671|95.47%
View 32 18 rs28555630
dbSNP Clinvar
14848821 315.78 G A . 1/1 11 SYNONYMOUS_CODING LOW None 0.46965 0.46960 None None None None None None ANKRD30B|0.000995671|95.47%
View 32 18 rs76927023
dbSNP Clinvar
14779986 78.77 G A . 0/1 10 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None ANKRD30B|0.000995671|95.47%
View 32 18 rs12386087
dbSNP Clinvar
14852335 1089.77 C A . 1/1 33 NON_SYNONYMOUS_CODING MODERATE None 0.96825 0.96830 0.37 0.00 None None None None None None ANKRD30B|0.000995671|95.47%
View 32 18 rs187017186
dbSNP Clinvar
14831448 468.77 T C . 0/1 36 SYNONYMOUS_CODING LOW None 0.00539 0.00539 None None None None None None ANKRD30B|0.000995671|95.47%
View 32 18 rs9675365
dbSNP Clinvar
14779969 42.77 C G . 0/1 6 NON_SYNONYMOUS_CODING MODERATE None 0.46566 0.46570 0.29 0.04 None None None None None None ANKRD30B|0.000995671|95.47%
View 32 18 rs72873710
dbSNP Clinvar
14780019 67.77 G T . 0/1 8 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.06 0.19 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 32 18 rs11873244
dbSNP Clinvar
12124152 290.77 C G . 0/1 19 NON_SYNONYMOUS_CODING MODERATE None 0.23542 0.23540 1.00 0.00 None None None None None None ANKRD62|0.00149963|92.78%
View 32 18 rs6505715
dbSNP Clinvar
12099654 434.77 T C . 1/1 15 NON_SYNONYMOUS_CODING MODERATE None 0.52436 0.52440 0.42 0.00 None None None None None None ANKRD62|0.00149963|92.78%
View 32 18 rs7243248
dbSNP Clinvar
12125657 1129.77 G A . 1/1 35 NON_SYNONYMOUS_CODING MODERATE None 0.54653 0.54650 1.00 0.00 None None None None None None ANKRD62|0.00149963|92.78%
View 32 18 rs1986751
dbSNP Clinvar
12096249 722.77 G T . 1/1 27 NON_SYNONYMOUS_CODING MODERATE None 0.52456 0.52460 0.08 0.00 None None None None None None ANKRD62|0.00149963|92.78%
View 32 18 rs4519391
dbSNP Clinvar
12115509 122.03 G A . 1/1 4 NON_SYNONYMOUS_CODING MODERATE None 0.52736 0.52740 0.01 0.86 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 32 18 rs1062235
dbSNP Clinvar
12658600 230.77 A G . 0/1 29 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 32 18 rs1116757
dbSNP Clinvar
6890434 365.77 A G . 0/1 31 SYNONYMOUS_CODING LOW None 0.56310 0.56310 0.43395 None None None None None None ARHGAP28|0.058067092|60.37%
View 32 18 rs1056408
dbSNP Clinvar
6912143 442.77 A C . 0/1 27 NON_SYNONYMOUS_CODING MODERATE None 0.72923 0.72920 0.16408 1.00 0.00 None None None None None None ARHGAP28|0.058067092|60.37%
View 32 18 rs4239328
dbSNP Clinvar
6889973 939.77 A G . 0/1 79 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 32 18 rs2282632
dbSNP Clinvar
31320229 489.77 A G . 0/1 36 NON_SYNONYMOUS_CODING MODERATE None 0.70328 0.70330 0.39929 0.17 0.00 None None None None None None ASXL3|0.548869749|13.78%
View 32 18 rs7232237
dbSNP Clinvar
31324934 589.77 A G . 0/1 50 NON_SYNONYMOUS_CODING MODERATE None 0.67911 0.67910 0.41347 1.00 0.00 None None None None None None ASXL3|0.548869749|13.78%

ATP8B1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 32 18 rs222581
dbSNP Clinvar
55317676 1227.77 C T . 1/1 39 NON_SYNONYMOUS_CODING MODERATE None 0.99980 0.99980 0.00123 1.00 0.00 None None None None None None ATP8B1|0.161108429|41.4%
View 32 18 rs319443
dbSNP Clinvar
55362532 331.77 T G . 1/1 10 SYNONYMOUS_CODING LOW None 0.99261 0.99260 0.01031 None None None None None None ATP8B1|0.161108429|41.4%
View 32 18 rs319438
dbSNP Clinvar
55364852 554.77 A G . 1/1 17 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.99461 0.99460 0.00692 None None None None None None ATP8B1|0.161108429|41.4%

ATP9B

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 32 18 rs3760541
dbSNP Clinvar
77067000 692.77 T G . 0/1 45 SYNONYMOUS_CODING LOW None 0.40336 0.40340 0.42219 None None None None None None ATP9B|0.095143963|52.07%

BOD1L2

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 32 18 rs11151997
dbSNP Clinvar
54815025 122.77 G T . 0/1 16 NON_SYNONYMOUS_CODING MODERATE None 0.56809 0.56810 0.17 0.01 None None None None None None BOD1L2|0.00341202|87.92%

C18orf63

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 32 18 rs12606060
dbSNP Clinvar
72021717 919.77 T C . 1/1 29 NON_SYNONYMOUS_CODING MODERATE None 0.99820 0.99820 1.00 0.00 None None None None None None C18orf63|0.018173124|75.19%

C18orf64

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 32 18 rs12326052
dbSNP Clinvar
6588865 418.77 T C . 0/1 34 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.20088 0.20090 0.77 None None None None None None None

C18orf8

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 32 18 rs1788825
dbSNP Clinvar
21109250 761.77 T C . 0/1 62 SYNONYMOUS_CODING LOW None 0.83047 0.83050 0.26372 None None None None None None C18orf8|0.098725998|51.41%,NPC1|0.141724211|44.18%
View 32 18 rs1367083
dbSNP Clinvar
21100240 754.77 C T . 0/1 68 SYNONYMOUS_CODING LOW None 0.61941 0.61940 0.49785 None None None None None None C18orf8|0.098725998|51.41%,NPC1|0.141724211|44.18%

CABYR

Omim - GeneCards - NCBI
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RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 32 18 rs1049683
dbSNP Clinvar
21736933 374.77 T G . 1/1 12 NON_SYNONYMOUS_CODING MODERATE None 0.85324 0.85320 0.15538 1.00 0.00 None None None None None None CABYR|0.10325602|50.56%
View 32 18 rs1049684
dbSNP Clinvar
21739725 485.77 T C . 0/1 27 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 32 18 rs7237888
dbSNP Clinvar
70209321 3.98 C A LowQual 0/1 3 SYNONYMOUS_CODING LOW None 0.56310 0.56310 0.24141 None None None None None None CBLN2|0.157579656|41.93%

CCBE1

Omim - GeneCards - NCBI
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RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 32 18 rs766239392
dbSNP Clinvar
57106971 559.77 T C . 0/1 36 NON_SYNONYMOUS_CODING MODERATE None 0.03 0.20 None None None None None None CCBE1|0.137723274|44.75%

CCDC102B

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 32 18 rs572020
dbSNP Clinvar
66504459 1058.77 A T . 1/1 33 NON_SYNONYMOUS_CODING MODERATE None 0.92093 0.92090 0.07229 0.55 0.01 None None None None None None CCDC102B|0.006657119|83.88%
View 32 18 rs745894
dbSNP Clinvar
66542006 208.77 G T . 0/1 12 NON_SYNONYMOUS_CODING MODERATE None 0.19569 0.19570 0.20421 0.63 0.00 None None None None None None CCDC102B|0.006657119|83.88%
View 32 18 rs2187094
dbSNP Clinvar
66513615 644.77 A G . 0/1 35 NON_SYNONYMOUS_CODING MODERATE None 0.36781 0.36780 0.29602 0.07 0.40 None None None None None None CCDC102B|0.006657119|83.88%
View 32 18 rs485613
dbSNP Clinvar
66504093 1443.77 A C . 1/1 46 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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RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 32 18 rs35193847
dbSNP Clinvar
47777244 1147.77 C T . 0/1 92 NON_SYNONYMOUS_CODING MODERATE None 0.19349 0.19350 0.30506 0.04 0.25 None None None None None None CFAP53|0.02234551|72.99%

CCDC178

Omim - GeneCards - NCBI
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RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 32 18 rs466113
dbSNP Clinvar
30804756 388.77 C T . 1/1 12 NON_SYNONYMOUS_CODING MODERATE None 0.99541 0.99540 0.00477 0.01 0.00 None None None None None None CCDC178|0.012849829|78.59%
View 32 18 rs9965081
dbSNP Clinvar
30846895 127.03 A T . 1/1 5 NON_SYNONYMOUS_CODING MODERATE None 0.93251 0.93250 0.09595 0.98 0.00 None None None None None None CCDC178|0.012849829|78.59%
View 32 18 . 30969516 6.02 T A LowQual 0/1 5 NON_SYNONYMOUS_CODING MODERATE None 0.10 0.94 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 32 18 rs1344011
dbSNP Clinvar
52605188 103.77 C T . 0/1 7 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.17792 0.17790 0.16800 None None None None None None CCDC68|0.06035994|59.77%

CD226

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 32 18 rs763361
dbSNP Clinvar
67531642 792.77 T C . 0/1 67 NON_SYNONYMOUS_CODING MODERATE None 0.46945 0.46940 0.45210 0.40 0.00 None None None None None None CD226|0.|85.1%

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 32 18 rs116708360
dbSNP Clinvar
64239387 572.77 A T . 0/1 38 NON_SYNONYMOUS_CODING MODERATE None 0.00779 0.00779 0.00738 0.09 0.05 None None None None None None CDH19|0.03445316|67.64%

CDH2

Omim - GeneCards - NCBI
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RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 32 18 rs1628684
dbSNP Clinvar
25570228 1848.77 G C . 1/1 58 SYNONYMOUS_CODING LOW None 0.99361 0.99360 0.00638 None None None None None None CDH2|0.998144482|0.55%
View 32 18 rs1220144
dbSNP Clinvar
25565082 1887.77 A G . 1/1 59 SYNONYMOUS_CODING LOW None 0.99002 0.99000 0.01000 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 32 18 rs12964819
dbSNP Clinvar
59166541 131.77 C T . 0/1 12 SYNONYMOUS_CODING LOW None 0.62220 0.62220 0.34100 None None None None None None CDH20|0.521854874|14.91%
View 32 18 rs595093
dbSNP Clinvar
59170304 302.78 C G . 1/1 12 SYNONYMOUS_CODING LOW None 0.99581 0.99580 0.00461 None None None None None None CDH20|0.521854874|14.91%

CDH7

Omim - GeneCards - NCBI
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RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 32 18 rs2291343
dbSNP Clinvar
63530016 379.77 A G . 0/1 41 NON_SYNONYMOUS_CODING MODERATE None 0.62959 0.62960 0.41050 0.58 0.03 None None None None None None CDH7|0.157743367|41.9%
View 32 18 rs8097752
dbSNP Clinvar
63489378 720.77 C T . 0/1 54 SYNONYMOUS_CODING LOW None 0.85284 0.85280 0.13917 None None None None None None CDH7|0.157743367|41.9%
View 32 18 rs2306675
dbSNP Clinvar
63511176 269.77 T C . 0/1 34 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 32 18 rs1443638
dbSNP Clinvar
34850846 284.77 G A . 0/1 16 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
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RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 32 18 rs11080618
dbSNP Clinvar
13001523 181.77 G A . 0/1 11 NON_SYNONYMOUS_CODING MODERATE None 0.27416 0.27420 0.03 0.01 None None None None None None CEP192|0.030811627|69.03%
View 32 18 rs4499304
dbSNP Clinvar
13001512 253.8 G C . 1/1 9 NON_SYNONYMOUS_CODING MODERATE None 0.43071 0.43070 0.61 0.00 None None None None None None CEP192|0.030811627|69.03%
View 32 18 rs1786263
dbSNP Clinvar
13116432 984.77 G T . 1/1 27 NON_SYNONYMOUS_CODING MODERATE None 0.77556 0.77560 0.28087 1.00 0.00 None None None None None None CEP192|0.030811627|69.03%
View 32 18 rs474337
dbSNP Clinvar
13095609 992.77 T C . 1/1 28 NON_SYNONYMOUS_CODING MODERATE None 0.76997 0.77000 0.29133 0.07 0.00 None None None None None None CEP192|0.030811627|69.03%
View 32 18 rs6505780
dbSNP Clinvar
13069782 1049.77 C T . 1/1 32 NON_SYNONYMOUS_CODING MODERATE None 0.77017 0.77020 0.29148 1.00 0.00 None None None None None None CEP192|0.030811627|69.03%
View 32 18 rs578208
dbSNP Clinvar
13068132 630.77 T C . 1/1 20 NON_SYNONYMOUS_CODING MODERATE None 0.74720 0.74720 0.31624 1.00 0.00 None None None None None None CEP192|0.030811627|69.03%
View 32 18 rs2282541
dbSNP Clinvar
13056333 667.77 C T . 0/1 56 SYNONYMOUS_CODING LOW None 0.24621 0.24620 0.29386 None None None None None None CEP192|0.030811627|69.03%

CETN1

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 32 18 rs61734344
dbSNP Clinvar
580623 991.77 T C . 0/1 60 NON_SYNONYMOUS_CODING MODERATE None 0.17971 0.17970 0.16639 0.00 1.00 None None None None None None CETN1|0.043345543|64.71%

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 32 18 rs71369912
dbSNP Clinvar
12254562 1032.73 C CC... . 0/1 32 None None None 0.38459 0.38460 None None None None None None CIDEA|0.01791692|75.33%
View 32 18 rs60132277
dbSNP Clinvar
12254539 474.77 C G . 0/1 40 None None None 0.13379 0.13380 0.00 None None None None None None CIDEA|0.01791692|75.33%
View 32 18 rs7505615
dbSNP Clinvar
12254816 8.44 A G LowQual 0/1 5 None None None 0.27955 0.27960 0.21437 0.00 None None None None None None CIDEA|0.01791692|75.33%

CNDP1

Omim - GeneCards - NCBI
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RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 32 18 rs12960862
dbSNP Clinvar
72234635 428.77 C T . 0/1 29 SYNONYMOUS_CODING LOW None 0.45447 0.45450 0.43449 None None None None None None CNDP1|0.024865105|71.86%
View 32 18 rs73973908
dbSNP Clinvar
72238472 612.77 C A . 0/1 48 NON_SYNONYMOUS_CODING MODERATE None 0.16154 0.16150 0.15577 0.24 0.03 None None None None None None CNDP1|0.024865105|71.86%
View 32 18 rs4263028
dbSNP Clinvar
72228124 1105.77 A G . 1/1 35 NON_SYNONYMOUS_CODING MODERATE None 0.98163 0.98160 0.01745 1.00 0.00 None None None None None None CNDP1|0.024865105|71.86%

COLEC12

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 32 18 rs2305026
dbSNP Clinvar
334758 128.03 T C . 1/1 5 SYNONYMOUS_CODING LOW None 0.88498 0.88500 0.14363 None None None None None None COLEC12|0.362523137|23.25%
View 32 18 rs34573899
dbSNP Clinvar
331733 454.77 G A . 0/1 40 SYNONYMOUS_CODING LOW None 0.00839 0.00839 0.01592 None None None None None None COLEC12|0.362523137|23.25%