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EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD
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FREQUENCIES

1000 GENOMES FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES
DBSNP FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN DBSNP
ESP6500 FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

SCORES

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EXCLUDE VARIANTS WITHOUT SIFT SCORE
POLYPHEN2 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, APCDD1, ASXL3, ATP5A1, ATP8B1, CCBE1, CCDC11, CTDP1, DCC, DSC3, DSG1, DSG2, DSG4, EPG5, FECH, GNAL, GREB1L, KDSR, LAMA1, LAMA3, LOXHD1, MOCOS, MYO5B, NDUFV2, NPC1, NPC1, PIEZO2, PIGN, RAX, RTTN, SERPINB7, SERPINB8, SETBP1, SLC14A1, SMAD4, SMCHD1, TAF4B, TCF4, TGIF1, TNFRSF11A, TSHZ1,
AFG3L2 Spastic ataxia 5, autosomal recessive, 614487 (3)
Spinocerebellar ataxia 28, 610246 (3)
APCDD1 Hypotrichosis 1, 605389 (3)
ASXL3 Bainbridge-Ropers syndrome, 615485 (3)
ATP5A1 ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4, 615228 (3)
?Combined oxidative phosphorylation deficiency 22, 616045 (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)
GNAL Dystonia 25, 615073 (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)
MOCOS Xanthinuria, type II, 603592 (3)
MYO5B Microvillus inclusion disease, 251850 (3)
NDUFV2 Mitochondrial complex I deficiency, nuclear type 7, 618229 (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)
TSHZ1 Aural atresia, congenital, 607842 (3)

Genes at Clinical Genomics Database

AFG3L2, APCDD1, ASXL3, ATP5A1, ATP8B1, CCBE1, CTDP1, DCC, DSC3, DSG1, DSG2, DSG4, EPG5, FECH, GNAL, LAMA1, LAMA3, LOXHD1, MYO5B, NDUFV2, NPC1, PIEZO2, PIGN, RAX, RTTN, SERPINB7, SETBP1, SLC14A1, SMAD4, SMCHD1, TAF4B, TCF4, TGIF1, TNFRSF11A, TSHZ1,
AFG3L2 Spinocerebellar ataxia 28
Spastic ataxia 5, autosomal recessive
APCDD1 Hypotrichosis 1
ASXL3 Bainbridge-Ropers syndrome
ATP5A1 Combined oxidative phosphorylation deficiency 22
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4
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
GNAL Primary torsion dystonia
LAMA1 Poretti-Boltshauser syndrome
LAMA3 Laryngoonychocutaneous syndrome
Epidermolysis bullosa, junctional, Herlitz type
Epidermolysis bullosa, generalized atrophic benign
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
TSHZ1 Aural atresia, congenital

Genes at HGMD

Summary

Number of Variants: 1368
Number of Genes: 148

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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs8192597
dbSNP Clinvar
907675 1120.96 G A PASS 1/1 117 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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs3744877
dbSNP Clinvar
77894844 1595.57 G A PASS 1/1 168 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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs777264204
dbSNP Clinvar
12340314 785.051 C T PASS 0/1 525 SYNONYMOUS_CODING LOW None None None None None None None TUBB6|0.061114418|59.56%,AFG3L2|0.258891122|30.83%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs11553521
dbSNP Clinvar
12348285 201.322 T C PASS 0/1 112 SYNONYMOUS_CODING LOW None 0.70986 0.70990 0.22074 None None None None None None AFG3L2|0.258891122|30.83%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs11080572
dbSNP Clinvar
12351342 140.496 C T PASS 0/1 90 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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs10469212
dbSNP Clinvar
56202418 1553.62 T C PASS 1/1 171 SYNONYMOUS_CODING LOW None 0.93051 0.93050 0.06874 None None None None None None ALPK2|0.002935349|88.74%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs7240666
dbSNP Clinvar
56149099 1166.49 T C PASS 1/1 125 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%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs6566987
dbSNP Clinvar
56279025 31.3184 T G PASS 0/1 27 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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs3809975
dbSNP Clinvar
56204489 1481.93 C G PASS 1/1 155 NON_SYNONYMOUS_CODING MODERATE None 0.06030 0.06030 0.02245 0.18 0.01 2.12 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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs141484109
dbSNP Clinvar
9255081 132.092 A G PASS 0/1 73 NON_SYNONYMOUS_CODING MODERATE None 0.00280 0.00280 0.00062 0.00 0.05 1.21 None None None None None None ANKRD12|0.456435861|17.86%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs4798791
dbSNP Clinvar
9255982 480.113 A G PASS 1/1 54 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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs76927023
dbSNP Clinvar
14779986 52.7123 G A PASS 0/1 55 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 -0.19 None None None None None None ANKRD30B|0.000995671|95.47%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs9675365
dbSNP Clinvar
14779969 45.6106 C G PASS 0/1 56 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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs12386087
dbSNP Clinvar
14852335 714.418 C A PASS 1/1 69 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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs12457503
dbSNP Clinvar
14752957 281.623 G A PASS 0/1 145 SYNONYMOUS_CODING LOW None 0.51997 0.52000 0.48489 None None None None None None ANKRD30B|0.000995671|95.47%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs3126404
dbSNP Clinvar
14850375 56.8876 G A PASS 0/1 62 SYNONYMOUS_CODING LOW None 0.47244 0.47240 None None None None None None ANKRD30B|0.000995671|95.47%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs28555630
dbSNP Clinvar
14848821 57.8849 G A PASS 0/1 59 SYNONYMOUS_CODING LOW None 0.46965 0.46960 None None None None None None ANKRD30B|0.000995671|95.47%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs4090319
dbSNP Clinvar
14848820 239.583 C T PASS 0/1 61 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%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs72873710
dbSNP Clinvar
14780019 55.4697 G T PASS 0/1 48 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%

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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs11873244
dbSNP Clinvar
12124152 25.8928 C G PASS 0/1 12 NON_SYNONYMOUS_CODING MODERATE None 0.23542 0.23540 1.00 0.00 -2.76 None None None None None None ANKRD62|0.00149963|92.78%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs11664969
dbSNP Clinvar
12094031 73.3994 G T PASS 0/1 23 SYNONYMOUS_CODING LOW None 0.29393 0.29390 None None None None None None ANKRD62|0.00149963|92.78%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs1986751
dbSNP Clinvar
12096249 196.213 G T PASS 0/1 114 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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs6505715
dbSNP Clinvar
12099654 186.058 T C PASS 0/1 85 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%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs7243248
dbSNP Clinvar
12125657 185.414 G A PASS 0/1 88 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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs4519391
dbSNP Clinvar
12115509 52.3077 G A PASS 0/1 15 NON_SYNONYMOUS_CODING MODERATE None 0.52736 0.52740 0.01 0.86 2.45 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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs1062235
dbSNP Clinvar
12658600 1394.95 A G PASS 1/1 148 SYNONYMOUS_CODING LOW None 0.29952 0.29950 None None None None None None None

APCDD1

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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs3748413
dbSNP Clinvar
10471773 159.768 C G PASS 0/1 143 SYNONYMOUS_CODING LOW None 0.10403 0.10400 0.09819 None None None None None None APCDD1|0.086159804|53.92%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs3185480
dbSNP Clinvar
10487918 844.536 C T PASS 1/1 88 SYNONYMOUS_CODING LOW None 0.40994 0.40990 0.35276 None None None None None None APCDD1|0.086159804|53.92%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs3748414
dbSNP Clinvar
10471764 163.425 C T PASS 0/1 138 SYNONYMOUS_CODING LOW None 0.10344 0.10340 0.09788 None None None None None None APCDD1|0.086159804|53.92%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs3748415
dbSNP Clinvar
10471732 166.184 G A PASS 0/1 135 NON_SYNONYMOUS_CODING MODERATE None 0.09665 0.09665 0.08781 0.09 0.12 1.41 None None None None None None APCDD1|0.086159804|53.92%

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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs1116757
dbSNP Clinvar
6890434 239.523 A G PASS 0/1 150 SYNONYMOUS_CODING LOW None 0.56310 0.56310 0.43395 None None None None None None ARHGAP28|0.058067092|60.37%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs1056408
dbSNP Clinvar
6912143 486.468 A C PASS 1/1 61 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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs4239328
dbSNP Clinvar
6889973 404.107 A G PASS 0/1 230 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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs2282632
dbSNP Clinvar
31320229 1618.4 A G PASS 1/1 177 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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs7232237
dbSNP Clinvar
31324934 968.647 A G PASS 1/1 102 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%

ATP5A1

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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs3753069
dbSNP Clinvar
43678035 49.5312 T C PASS 1/1 6 None None None 0.55052 0.55050 0.00 None None None None None None ATP5A1|0.559577689|13.38%

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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs319438
dbSNP Clinvar
55364852 267.064 A G PASS 1/1 28 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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs319443
dbSNP Clinvar
55362532 664.603 T G PASS 1/1 73 SYNONYMOUS_CODING LOW None 0.99261 0.99260 0.01031 None None None None None None ATP8B1|0.161108429|41.4%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs222581
dbSNP Clinvar
55317676 1358.67 C T PASS 1/1 145 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
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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs34331564
dbSNP Clinvar
76873288 94.2196 A G PASS 0/1 72 SYNONYMOUS_CODING LOW None 0.06749 0.06749 0.07087 None None None None None None ATP9B|0.095143963|52.07%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs4078115
dbSNP Clinvar
76829525 36.3179 A G PASS 0/1 19 NON_SYNONYMOUS_CODING MODERATE None 0.31430 0.31430 0.17122 0.23 0.00 0.43 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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs11151997
dbSNP Clinvar
54815025 365.051 G T PASS 1/1 39 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%

C18orf25

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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs34068795,rs397790301
dbSNP Clinvar
43833701 441.072 T TCTG PASS 1/1 79 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.69269 0.69270 None None None None None None C18orf25|0.503978181|15.65%

C18orf42

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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs1395063
dbSNP Clinvar
5145609 63.2575 G T PASS 0/1 35 NON_SYNONYMOUS_CODING MODERATE None 0.19169 0.19170 0.36 0.00 -0.82 None None None None None None C18orf42|0.044450613|64.35%

C18orf56

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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs2853533
dbSNP Clinvar
658064 435.25 G C PASS 0/1 246 NON_SYNONYMOUS_CODING MODERATE None 0.33906 0.33910 0.20262 0.68 None None None None None None TYMSOS|0.00080118|96.64%,TYMS|0.850689466|4.62%

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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs79548281
dbSNP Clinvar
72009544 70.5041 C T PASS 0/1 16 SYNONYMOUS_CODING LOW None 0.06869 0.06869 None None None None None None C18orf63|0.018173124|75.19%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs12606060
dbSNP Clinvar
72021717 916.232 T C PASS 1/1 96 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%

C18orf8

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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs1367083
dbSNP Clinvar
21100240 357.242 C T PASS 0/1 177 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%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs112277818
dbSNP Clinvar
21083647 440.179 C A PASS 0/1 247 NON_SYNONYMOUS_CODING MODERATE None 0.00060 0.00060 0.00223 0.11 0.15 3.17 0.15 0.83553 D None None None None C18orf8|0.098725998|51.41%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs1788825
dbSNP Clinvar
21109250 3022.49 T C PASS 1/1 321 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%

CABYR

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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs1049683
dbSNP Clinvar
21736933 201.649 T G PASS 1/1 22 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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs1049684
dbSNP Clinvar
21739725 760.765 T C PASS 1/1 79 None None None 0.47125 0.47120 0.41788 None None None None None None CABYR|0.10325602|50.56%

CBLN2

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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs7237888
dbSNP Clinvar
70209321 73.8996 C A PASS 0/1 25 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
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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs61745250
dbSNP Clinvar
57106987 194.521 G A PASS 0/1 94 SYNONYMOUS_CODING LOW None 0.00419 0.00419 0.01376 None None None None None None CCBE1|0.137723274|44.75%

CCDC102B

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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs637051
dbSNP Clinvar
66504351 818.433 G A PASS 1/1 88 SYNONYMOUS_CODING LOW None 0.20627 0.20630 0.34664 None None None None None None CCDC102B|0.006657119|83.88%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs2187094
dbSNP Clinvar
66513615 689.956 A G PASS 1/1 73 NON_SYNONYMOUS_CODING MODERATE None 0.36781 0.36780 0.29602 0.07 0.40 1.74 None None None None None None CCDC102B|0.006657119|83.88%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs485613
dbSNP Clinvar
66504093 1049.54 A C PASS 1/1 109 SYNONYMOUS_CODING LOW None 0.92093 0.92090 0.07538 None None None None None None CCDC102B|0.006657119|83.88%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs572020
dbSNP Clinvar
66504459 822.805 A T PASS 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%

CCDC11

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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs35193847
dbSNP Clinvar
47777244 499.367 C T PASS 0/1 299 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
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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs9965081
dbSNP Clinvar
30846895 470.585 A T PASS 1/1 49 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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs147462915
dbSNP Clinvar
30950014 237.624 C T PASS 0/1 146 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.00339 0.00340 0.00500 None None None None None None CCDC178|0.012849829|78.59%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs466113
dbSNP Clinvar
30804756 639.743 C T PASS 1/1 67 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
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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs1344011
dbSNP Clinvar
52605188 254.959 C T PASS 1/1 27 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
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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs72481819
dbSNP Clinvar
67534632 151.184 C T PASS 0/1 74 SYNONYMOUS_CODING LOW None 0.02196 0.02196 0.04905 None None None None None None CD226|0.|85.1%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs763361
dbSNP Clinvar
67531642 3000.39 T C PASS 1/1 310 NON_SYNONYMOUS_CODING MODERATE None 0.46945 0.46940 0.45210 0.40 0.00 -1.45 None None None None None None CD226|0.|85.1%

CDH19

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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs1055335
dbSNP Clinvar
64176365 1442.2 G T PASS 1/1 151 SYNONYMOUS_CODING LOW None 0.25240 0.25240 0.29140 None None None None None None CDH19|0.03445316|67.64%

CDH2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs1944294
dbSNP Clinvar
25616451 160.989 A T PASS 0/1 95 None None None 0.20587 0.20590 0.15242 1.57 None None None None None None CDH2|0.998144482|0.55%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs1220144
dbSNP Clinvar
25565082 1170.85 A G PASS 1/1 123 SYNONYMOUS_CODING LOW None 0.99002 0.99000 0.01000 None None None None None None CDH2|0.998144482|0.55%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs1628684
dbSNP Clinvar
25570228 1978.11 G C PASS 1/1 216 SYNONYMOUS_CODING LOW None 0.99361 0.99360 0.00638 None None None None None None CDH2|0.998144482|0.55%

CDH20

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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs595093
dbSNP Clinvar
59170304 481.193 C G PASS 1/1 51 SYNONYMOUS_CODING LOW None 0.99581 0.99580 0.00461 None None None None None None CDH20|0.521854874|14.91%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs12964819
dbSNP Clinvar
59166541 677.133 C T PASS 1/1 70 SYNONYMOUS_CODING LOW None 0.62220 0.62220 0.34100 None None None None None None CDH20|0.521854874|14.91%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs1943330
dbSNP Clinvar
59174759 375.707 C A PASS 1/1 39 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%

CDH7

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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs2291343
dbSNP Clinvar
63530016 173.554 A G PASS 0/1 110 NON_SYNONYMOUS_CODING MODERATE None 0.62959 0.62960 0.41050 0.58 0.03 1.61 None None None None None None CDH7|0.157743367|41.9%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs2306675
dbSNP Clinvar
63511176 268.494 T C PASS 0/1 124 SYNONYMOUS_CODING LOW None 0.18610 0.18610 0.28987 None None None None None None CDH7|0.157743367|41.9%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs8097752
dbSNP Clinvar
63489378 1281.72 C T PASS 1/1 135 SYNONYMOUS_CODING LOW None 0.85284 0.85280 0.13917 None None None None None None CDH7|0.157743367|41.9%

CELF4

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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs1443638
dbSNP Clinvar
34850846 46.5043 G A PASS 0/1 45 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
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs16940057
dbSNP Clinvar
13038431 423.924 A G PASS 0/1 204 SYNONYMOUS_CODING LOW None 0.06310 0.06310 0.03942 None None None None None None CEP192|0.030811627|69.03%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs74340616
dbSNP Clinvar
13100326 197.384 G A PASS 0/1 91 NON_SYNONYMOUS_CODING MODERATE None 0.02137 0.02137 0.01100 0.32 0.08 4.57 None None None None None None CEP192|0.030811627|69.03%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs474337
dbSNP Clinvar
13095609 363.299 T C PASS 0/1 169 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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs1786263
dbSNP Clinvar
13116432 429.685 G T PASS 0/1 211 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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs4499304
dbSNP Clinvar
13001512 121.895 G C PASS 0/1 54 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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs6505780
dbSNP Clinvar
13069782 455.829 C T PASS 0/1 195 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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs578208
dbSNP Clinvar
13068132 143.994 T C PASS 0/1 117 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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs149216711
dbSNP Clinvar
13008497 124.951 G C PASS 0/1 94 NON_SYNONYMOUS_CODING MODERATE None 0.01617 0.01617 0.07 0.88 1.93 None None None None None None CEP192|0.030811627|69.03%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs2027698
dbSNP Clinvar
13092424 99.7638 G A PASS 0/1 64 NON_SYNONYMOUS_CODING MODERATE None 0.06310 0.06310 0.04206 1.00 0.00 -0.03 None None None None None None CEP192|0.030811627|69.03%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs3737379
dbSNP Clinvar
13100451 314.114 A G PASS 0/1 132 NON_SYNONYMOUS_CODING MODERATE None 0.06330 0.06330 0.04221 0.08 0.19 4.71 None None None None None None CEP192|0.030811627|69.03%

CETN1

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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs61734344
dbSNP Clinvar
580623 745.446 T C PASS 0/1 322 NON_SYNONYMOUS_CODING MODERATE None 0.17971 0.17970 0.16639 0.00 1.00 3.92 None None None None None None CETN1|0.043345543|64.71%

CIDEA

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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs11545881
dbSNP Clinvar
12274104 626.447 G T PASS 1/1 65 NON_SYNONYMOUS_CODING MODERATE None 0.36422 0.36420 0.30594 0.29 0.08 -0.39 None None None None None None CIDEA|0.01791692|75.33%

CNDP1

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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs4263028
dbSNP Clinvar
72228124 1550.92 A G PASS 1/1 164 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%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs10663835,rs60017744
dbSNP Clinvar
72223591 66.9119 G GTGC PASS 0/1 94 CODON_INSERTION MODERATE None None None None None None None CNDP1|0.024865105|71.86%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs12960862
dbSNP Clinvar
72234635 519.794 C T PASS 1/1 55 SYNONYMOUS_CODING LOW None 0.45447 0.45450 0.43449 None None None None None None CNDP1|0.024865105|71.86%

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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs2305026
dbSNP Clinvar
334758 43.0425 T C PASS 0/1 20 SYNONYMOUS_CODING LOW None 0.88498 0.88500 0.14363 None None None None None None COLEC12|0.362523137|23.25%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs3826628
dbSNP Clinvar
346821 155.464 C T PASS 0/1 71 SYNONYMOUS_CODING LOW None 0.23323 0.23320 0.22697 None None None None None None COLEC12|0.362523137|23.25%

CTAGE1

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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs9946136
dbSNP Clinvar
19995731 56.7242 T C PASS 0/1 47 NON_SYNONYMOUS_CODING MODERATE None 0.18710 0.18710 0.23979 0.07 0.00 0.29 None None None None None None CTAGE1|0.001673826|91.99%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs9946145
dbSNP Clinvar
19995753 580.861 T C PASS 1/1 60 SYNONYMOUS_CODING LOW None 0.68550 0.68550 0.26563 None None None None None None CTAGE1|0.001673826|91.99%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs7227477
dbSNP Clinvar
19996011 385.434 G A PASS 1/1 41 SYNONYMOUS_CODING LOW None 0.49421 0.49420 0.45710 None None None None None None CTAGE1|0.001673826|91.99%

CTDP1

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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs17855830
dbSNP Clinvar
77440128 99.2668 T G PASS 1/1 10 NON_SYNONYMOUS_CODING MODERATE None 0.65535 0.65540 0.91 0.00 -2.45 None None None None None None CTDP1|0.016641517|76.13%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs626169
dbSNP Clinvar
77513721 1653.4 T C PASS 1/1 174 SYNONYMOUS_CODING LOW None 0.89517 0.89520 0.10357 None None None None None None CTDP1|0.016641517|76.13%

CTIF

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 r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs2277712
dbSNP Clinvar
46163049 188.489 C T PASS 0/1 89 NON_SYNONYMOUS_CODING MODERATE None 0.06050 0.06050 0.03322 0.37 0.00 2.67 None None None None None None CTIF|0.243907719|32.11%
View r_2016_06_15_14_03_10_user_mx-267-exomess_pool37_5b552 570 872 18 rs1038308
dbSNP Clinvar
46284587 680.279 T C PASS 1/1 72 SYNONYMOUS_CODING LOW None 0.85903 0.85900 0.16408 None None None None None None CTIF|0.243907719|32.11%