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INDIVIDUALS:

SNP LIST:
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GENE LIST:
INDIVIDUALS:

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OMIM:
CLINICAL GENOMICS DATABASE:
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VARIANT EFFECT FUNCTIONAL CLASS IMPACT
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EXCLUDE VARIANTS AT VARISNP
READ DEPTH:

QUAL:
VARIANTS PER GENE:
SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
SHOW ONLY VARIANTS AT EXACTLY SAME POSITION BETWEEN ALL THE INDIVIDUALS SELECTED
EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD
SHOW ONLY VARIANTS PRESENT AT HGMD

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

SIFT SCORE

EXCLUDE VARIANTS WITHOUT SIFT SCORE
POLYPHEN2 SCORE

EXCLUDE VARIANTS WITHOUT POLYPHEN SCORE
CADD

EXCLUDE VARIANTS WITHOUT CADD SCORE
MCAP

EXCLUDE VARIANTS WITHOUT M-CAP SCORE
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Genes at Omim

AQP3, AQP7, ASS1, C9orf72, CEL, DBH, DNAI1, DOCK8, DPM2, EXOSC3, FREM1, GBA2, GFI1B, GLDC, GLIS3, GRHPR, IFNA1, IFT74, JAK2, KANK1, MTAP, PAX5, PIGO, POMT1, SLC1A1, SURF1, TEK, TOPORS, TPM2, TRPM6, TSC1, TYRP1, VCP,
AQP3 [Blood group GIL], 607457 (3)
AQP7 [Glycerol quantitative trait locus], 614411 (3)
ASS1 Citrullinemia, 215700 (3)
C9orf72 Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, 105550 (3)
CEL Maturity-onset diabetes of the young, type VIII, 609812 (3)
DBH Dopamine beta-hydroxylase deficiency, 223360 (3)
[Dopamine-beta-hydroxylase activity levels, plasma] (3)
DNAI1 Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400 (3)
DOCK8 Hyper-IgE recurrent infection syndrome, autosomal recessive, 243700 (3)
DPM2 Congenital disorder of glycosylation, type Iu, 615042 (3)
EXOSC3 Pontocerebellar hypoplasia, type 1B, 614678 (3)
FREM1 Bifid nose with or without anorectal and renal anomalies, 608980 (3)
Manitoba oculotrichoanal syndrome, 248450 (3)
Trigonocephaly 2, 614485 (3)
GBA2 Spastic paraplegia 46, autosomal recessive, 614409 (3)
GFI1B Bleeding disorder, platelet-type, 17, 187900 (3)
GLDC Glycine encephalopathy, 605899 (3)
GLIS3 Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 (3)
GRHPR Hyperoxaluria, primary, type II, 260000 (3)
IFNA1 Interferon, alpha, deficiency (1)
IFT74 ?Bardet-Biedl syndrome 20, 617119 (3)
JAK2 Erythrocytosis, somatic, 133100 (3)
Leukemia, acute myeloid, somatic, 601626 (3)
Myelofibrosis, somatic, 254450 (3)
Polycythemia vera, somatic, 263300 (3)
Thrombocythemia 3, 614521 (3)
{Budd-Chiari syndrome, somatic}, 600800 (3)
KANK1 Cerebral palsy, spastic quadriplegic, 2, 612900 (3)
MTAP Diaphyseal medullary stenosis with malignant fibrous histiocytoma, 112250 (3)
PAX5 {Leukemia, acute lymphoblastic, susceptibility to, 3}, 615545 (3)
PIGO Hyperphosphatasia with mental retardation syndrome 2, 614749 (3)
POMT1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670 (3)
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1, 613155 (3)
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1, 609308 (3)
SLC1A1 Dicarboxylic aminoaciduria, 222730 (3)
{?Schizophrenia susceptibility 18}, 615232 (3)
SURF1 Charcot-Marie-Tooth disease, type 4K, 616684 (3)
Leigh syndrome, due to COX IV deficiency, 256000 (3)
TEK Venous malformations, multiple cutaneous and mucosal, 600195 (3)
TOPORS Retinitis pigmentosa 31, 609923 (3)
TPM2 Arthrogryposis multiplex congenita, distal, type 1, 108120 (3)
Arthrogryposis, distal, type 2B, 601680 (3)
CAP myopathy 2, 609285 (3)
Nemaline myopathy 4, autosomal dominant, 609285 (3)
TRPM6 Hypomagnesemia 1, intestinal, 602014 (3)
TSC1 Lymphangioleiomyomatosis, 606690 (3)
Tuberous sclerosis-1, 191100 (3)
TYRP1 Albinism, oculocutaneous, type III, 203290 (3)
[Skin/hair/eye pigmentation, variation in, 11 (Melanesian blond hair)], 612271 (3)
VCP Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954 (3)
Charcot-Marie-Tooth disease, type 2Y, 616687 (3)
Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, 167320 (3)

Genes at Clinical Genomics Database

AQP3, ASS1, CEL, DBH, DNAI1, DOCK8, DPM2, EXOSC3, FREM1, GBA2, GFI1B, GLDC, GLIS3, GRHPR, JAK2, KANK1, MTAP, PAX5, PIGO, POMT1, SLC1A1, SURF1, TEK, TOPORS, TPM2, TRPM6, TSC1, TYRP1, VCP,
AQP3 Blood group, GIL
ASS1 Citrullinemia
CEL Maturity-onset diabetes of the young, type 8
DBH Dopamine beta-hydroxylase deficiency
DNAI1 Ciliary dyskinesia, primary, 1
DOCK8 Hyper-IgE recurrent infection syndrome, autosomal recessive
DPM2 Congenital disorder of glycosylation, type Iu
EXOSC3 Pontocerebellar hypoplasia type 1B
FREM1 Congenital diaphragmatic hernia, autosomal recessive
Manitoba oculotrichoanal syndrome
Trigonocephaly 2
Bifid nose with or without anorectal and renal anomalies
GBA2 Cerebellar ataxia with spasticity, autosomal recessive
GFI1B Bleeding disorder, platelet-type, 17
GLDC Glycine encephalopathy
GLIS3 Diabetes mellitus, neonatal, with congenital hypothyroidism
GRHPR Hyperoxaluria, primary, type II
JAK2 Thrombocythemia 3
KANK1 Cerebral palsy, spastic quadriplegic, 2
MTAP Diaphyseal medullary stenosis with malignant fibrous histiocytoma
PAX5 Pre-B cell acute lymphoblastic leukemia
PIGO Hyperphosphatasia with mental retardation syndrome 2
POMT1 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1
SLC1A1 Dicarboxylic aminoaciduria
SURF1 Leigh syndrome
Charcot-Marie-Tooth disease type 4K
TEK Venous malformations, multiple cutaneous and mucosal
TOPORS Retitinis pigmentosa 31
TPM2 Arthrogryposis, distal, type 2B
Arthrogryposis, distal, type 1A
CAP myopathy
Nemaline myopathy 4
TRPM6 Hypomagnesemia 1, intestinal
TSC1 Lymphangioleiomyomatosis
Tuberous sclerosis
TYRP1 Albinism, oculocutaneous, type III
VCP Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1
Charcot-Marie-Tooth disease type, axonal type, 2Y
Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia

Genes at HGMD

Summary

Number of Variants: 5168
Number of Genes: 143

Export to: CSV

ACER2

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 23 recalibrated filtered postcgp gqfiltered 9 . 19450600 14215.35 G C PASS 0/1 124 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.28 0.02 None None None None None None None

ACO1

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 23 recalibrated filtered postcgp gqfiltered 9 . 32450045 5591.57 T C PASS 0/1 87 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.04 0.45 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 9 . 32448961 16076.36 T G PASS 0/1 45 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.99 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 9 . 32448907 434.63 C T PASS 0/1 50 SYNONYMOUS_CODING LOW None None None None None None None

ADAMTSL1

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 23 recalibrated filtered postcgp gqfiltered 9 . 18639302 2325.57 G A PASS 0/1 48 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.30 0.00 2.09 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 9 . 18776842 29665.76 A C PASS 1/1 58 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.29 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 9 . 18906749 794.64 C T PASS 0/1 80 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 9 . 18504918 40164.55 T A PASS 0/1 48 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 9 . 18777370 20558.1 T C PASS 1/1 231 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 9 rs552133431,rs75054093
dbSNP
18826263 13964.09 GTT GT,G PASS 1/1 32 None None None 0.00619 0.00619 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 9 . 18775812 13361.48 C A PASS 1/1 84 SYNONYMOUS_CODING LOW SILENT -0.18 None None None None None None None

AK8

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 23 recalibrated filtered postcgp gqfiltered 9 . 135702420 25393.63 A AC PASS 0/1 15 FRAME_SHIFT HIGH None None None None None None None

ALDH1B1

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 23 recalibrated filtered postcgp gqfiltered 9 . 38395943 200087.2 T C PASS 1/1 120 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 9 . 38396068 81154.55 G T PASS 0/1 143 SYNONYMOUS_CODING LOW 3.85 None None rs2073478 2 not_specified 1 None
View 23 recalibrated filtered postcgp gqfiltered 9 . 38396505 186342.21 G A PASS 1/1 81 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.07 0.04 -1.22 None None rs4878199 2 not_specified 1 None

ANKRD18A

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 23 recalibrated filtered postcgp gqfiltered 9 . 38588605 660.5 T C PASS 0/1 39 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.00 1.48 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 9 . 38595889 2392.89 T C PASS 0/1 157 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.43 -0.48 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 9 . 38615701 26878.84 C T PASS 0/1 69 SYNONYMOUS_CODING LOW -0.61 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 9 . 38571133 1014.92 C A PASS 0/1 89 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.14 1.18 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 9 . 38575640 847.26 T C PASS 0/1 72 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.66 0.07 1.20 None None None None None None None

ANKRD18B

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 23 recalibrated filtered postcgp gqfiltered 9 . 33567130 51.84 G A PASS 0/1 4 SYNONYMOUS_CODING LOW SILENT 5.18 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 9 . 33541218 58.49 G C PASS 0/1 35 SYNONYMOUS_CODING LOW SILENT -0.70 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 9 . 33524686 2716.7 G A PASS 0/1 121 SYNONYMOUS_CODING LOW 1.19 None None None None None None None

AQP3

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 23 recalibrated filtered postcgp gqfiltered 9 . 33442954 111693.51 G A PASS 1/1 59 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 9 . 33447426 8864.57 C G PASS 1/1 70 SYNONYMOUS_CODING LOW None None None None None None None

AQP7

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 23 recalibrated filtered postcgp gqfiltered 9 . 33395198 56419.4 A G PASS 1/1 42 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 9 . 33385585 11.64 A C PASS 0/1 10 None None None None None None None None None None

ARHGEF39

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 23 recalibrated filtered postcgp gqfiltered 9 . 35665156 586.35 C A PASS 0/1 20 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.23 0.02 -0.17 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 9 . 35662254 25808.84 T C PASS 0/1 103 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 1.00 0.09 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 9 . 35662613 553.63 G A PASS 0/1 45 SYNONYMOUS_CODING LOW SILENT 5.30 None None None None None None None

ARID3C

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 23 recalibrated filtered postcgp gqfiltered 9 . 34622392 54342.29 A C PASS 0/1 46 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.52 0.08 -1.00 None None None None None None None

ASS1

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 23 recalibrated filtered postcgp gqfiltered 9 . 133333974 3694.84 A G PASS 1/1 3 PROTEIN_INTERACTION_LOCUS HIGH 0.00 0.95 None None None None None None None

BAG1

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 23 recalibrated filtered postcgp gqfiltered 9 . 33264542 19752.52 C G PASS 0/1 43 SYNONYMOUS_CODING LOW 2.01 None None None None None None None

C9orf131

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 23 recalibrated filtered postcgp gqfiltered 9 . 35043294 237311.64 G T PASS 1/1 68 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 1.00 -0.36 None None None None None None None

C9orf24

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 23 recalibrated filtered postcgp gqfiltered 9 . 34379694 11801.26 C T PASS 0/1 151 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.30 0.00 2.53 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 9 . 34382728 53825.27 A G PASS 0/1 49 None None None None None None None None None None

C9orf38

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 23 recalibrated filtered postcgp gqfiltered 9 rs3739654
dbSNP
6468447 684.04 A G PASS 0/1 36 SYNONYMOUS_CODING LOW SILENT 0.33826 0.33830 None None None None None None None

C9orf66

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 23 recalibrated filtered postcgp gqfiltered 9 rs2236547
dbSNP
214864 8679.13 C T PASS 0/1 208 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.32548 0.32550 0.21597 1.00 0.00 2.42 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 9 rs481905
dbSNP
215057 4138.54 T C PASS 0/1 73 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.64157 0.64160 0.42916 0.93 0.00 0.12 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 9 rs540473
dbSNP
214706 7000.12 G C PASS 0/1 49 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.54393 0.54390 0.38912 1.00 0.00 1.88 None None None None None None None

C9orf72

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 23 recalibrated filtered postcgp gqfiltered 9 . 27561630 5120.39 T C PASS 0/1 34 SYNONYMOUS_CODING LOW SILENT 1.61 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 9 . 27556782 40728.48 G A PASS 1/1 58 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02 0.96 None None None None None None None

CA9

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 23 recalibrated filtered postcgp gqfiltered 9 . 35674104 25037.67 T C PASS 0/1 104 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None

CBWD1

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 23 recalibrated filtered postcgp gqfiltered 9 . 154795 112022.06 T C PASS 1/1 56 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.78694 0.23615 None None None None None None None

CCBL1

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 23 recalibrated filtered postcgp gqfiltered 9 . 131598130 11144.66 T C PASS 0/1 82 SYNONYMOUS_CODING LOW SILENT None None None None None None None

CCDC107

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 23 recalibrated filtered postcgp gqfiltered 9 . 35660993 214446.64 A G PASS 1/1 124 SYNONYMOUS_CODING LOW -1.31 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 9 . 35660904 56317.29 C T PASS 0/1 68 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.03 2.84 None None None None None None None

CCDC171

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 23 recalibrated filtered postcgp gqfiltered 9 . 15591374 28190.4 T A PASS 1/1 53 SYNONYMOUS_CODING LOW 1.40 None None None None None None None

CCIN

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 23 recalibrated filtered postcgp gqfiltered 9 . 36169601 76449.86 T C PASS 0/1 55 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 9 . 36169726 12661.35 G A PASS 0/1 61 SYNONYMOUS_CODING LOW -1.41 None None None None None None None

CEL

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 23 recalibrated filtered postcgp gqfiltered 9 . 135939794 3369.4 C T PASS 0/1 99 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None

CER1

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 23 recalibrated filtered postcgp gqfiltered 9 . 14720363 12559.94 T C PASS 0/1 58 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 9 . 14722479 87179.59 G C PASS 1/1 72 SYNONYMOUS_CODING LOW SILENT -1.54 None None None None None None None

CERCAM

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 23 recalibrated filtered postcgp gqfiltered 9 . 131198180 771.63 A C PASS 0/1 86 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None

CNTLN

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 9 . 17394538 62447.53 C T PASS 1/1 6 STOP_GAINED HIGH NONSENSE 0.55 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 9 . 17342385 154311.41 C T PASS 1/1 73 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.07 0.99 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 9 . 17394998 167009.81 T C PASS 1/1 54 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 9 . 17409368 245268.81 G A PASS 1/1 66 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 9 . 17273733 26716.67 A G PASS 1/1 23 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.21 None None None None None None None

CNTNAP3

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 23 recalibrated filtered postcgp gqfiltered 9 . 39078828 23.49 G A PASS 0/1 10 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.96 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 9 . 39078817 146.68 C A PASS 0/1 12 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 9 . 39078753 444.65 C T PASS 0/1 23 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.29 0.88 1.69 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 9 . 39078751 801.69 T C PASS 0/1 23 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 9 . 39078736 1253.21 G A PASS 0/1 42 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 9 . 39078724 2104.93 C A PASS 0/1 51 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 9 . 39078723 2109.7 G A PASS 0/1 52 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.73 0.00 2.41 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 9 . 39078846 403.96 A G PASS 0/1 7 SYNONYMOUS_CODING LOW 0.92 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 9 . 39118210 182825.13 A G PASS 0/1 31 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 9 . 39118208 187904.72 G T PASS 0/1 31 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.11 0.84 0.54 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 9 . 39118199 161468.02 C A PASS 0/1 30 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.89 6.32 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 9 . 39118111 47167.19 C T PASS 0/1 11 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 9 . 39088492 58454.83 T A VQSRTrancheSNP99.90to100.00 0/1 68 STOP_GAINED HIGH NONSENSE 0.25 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 9 . 39088549 60159.83 G A PASS 0/1 125 SYNONYMOUS_CODING LOW -0.22 None None None None None None None

CTNNAL1

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 23 recalibrated filtered postcgp gqfiltered 9 . 111775698 28270.78 A T PASS 1/1 2 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.24 0.00 None None None None None None None

DBH

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 23 recalibrated filtered postcgp gqfiltered 9 . 136513000 12808.45 C T PASS 1/1 12 SYNONYMOUS_CODING LOW None None None None None None None

DCAF12

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 23 recalibrated filtered postcgp gqfiltered 9 . 34107507 14344.28 C T PASS 0/1 71 NON_SYNONYMOUS_CODING MODERATE MISSENSE 5.74 None None None None None None None

DENND4C

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 23 recalibrated filtered postcgp gqfiltered 9 . 19326093 360.63 A G PASS 0/1 45 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 9 . 19341047 26783.02 A G PASS 0/1 78 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.23 0.02 None None None None None None None

DMRT1

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 23 recalibrated filtered postcgp gqfiltered 9 rs3739583
dbSNP
841971 2467.55 T A PASS 0/1 73 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.22464 0.22460 0.11479 0.12 0.02 -0.94 None None None None None None None

DMRT2

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 23 recalibrated filtered postcgp gqfiltered 9 rs17641078
dbSNP
1056959 19886.28 G C PASS 0/1 90 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.12161 0.12160 0.09526 0.00 0.82 4.94 None None None None None None None

DMRT3

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 23 recalibrated filtered postcgp gqfiltered 9 rs148355218
dbSNP
977312 781.39 T C PASS 0/1 41 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.27217 0.27220 0.09230 0.60 0.00 -1.69 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 9 rs10978001
dbSNP
990076 7167.57 G A PASS 0/1 53 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.03075 0.03075 0.00323 0.23 0.00 -1.22 None None None None None None None

DMRTA1

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 23 recalibrated filtered postcgp gqfiltered 9 . 22447656 10061.44 T A PASS 0/1 61 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.12 0.01 None None None None None None None

DNAI1

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 23 recalibrated filtered postcgp gqfiltered 9 . 34500823 6936.28 G A PASS 0/1 81 SYNONYMOUS_CODING LOW SILENT 4.82 None None rs11793196 2 not_specified 1 None

DNAJA1

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 23 recalibrated filtered postcgp gqfiltered 9 . 33026574 100862.57 T C PASS 0/1 55 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.99 None None None None None None None

DOCK8

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 23 recalibrated filtered postcgp gqfiltered 9 rs1887957
dbSNP
441952 217590.06 G A PASS 1/1 63 SYNONYMOUS_CODING LOW SILENT 0.80391 0.80390 0.25711 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 9 rs2039045
dbSNP
312124 45646.82 T C PASS 0/1 97 SYNONYMOUS_CODING LOW SILENT 0.16434 0.16430 0.21675 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 9 rs10970979
dbSNP
334337 54854.8 A G PASS 0/1 215 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.19968 0.19970 0.28202 0.65 0.00 0.53 None None rs10970979 2 not_specified 1 None
View 23 recalibrated filtered postcgp gqfiltered 9 rs17673268
dbSNP
368128 8478.36 C T PASS 0/1 97 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02935 0.02935 0.07589 0.02 0.61 6.47 None None rs17673268 2|2 not_provided|not_specified 1|1 None
View 23 recalibrated filtered postcgp gqfiltered 9 rs913703
dbSNP
370244 36454.84 A G PASS 0/1 62 SYNONYMOUS_CODING LOW SILENT 0.21586 0.21590 0.25181 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 9 rs10814431
dbSNP
377111 14115.61 G C PASS 0/1 47 SYNONYMOUS_CODING LOW SILENT 0.22863 0.22860 0.26657 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 9 rs2297075
dbSNP
390512 39074.19 C T PASS 0/1 55 SYNONYMOUS_CODING LOW SILENT 0.25499 0.25500 0.28502 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 9 rs2297079
dbSNP
421032 95824.14 C G PASS 1/1 82 SYNONYMOUS_CODING LOW SILENT 0.39177 0.39180 0.46263 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 9 rs7854035
dbSNP
429719 162236.9 T C PASS 1/1 102 SYNONYMOUS_CODING LOW SILENT 0.99940 0.99940 0.00323 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 9 rs529208
dbSNP
286593 49547.88 C A PASS 0/1 74 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.52975 0.52980 0.46425 0.01 0.56 4.03 None None rs529208 2 not_specified 1 None
View 23 recalibrated filtered postcgp gqfiltered 9 rs3209441
dbSNP
286491 18328.27 G A PASS 0/1 36 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.07009 0.07009 0.12702 0.00 1.00 6.75 None None rs3209441 2|2 not_provided|not_specified 1|1 None

DPM2

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 23 recalibrated filtered postcgp gqfiltered 9 . 130698016 50.67 A T PASS 0/1 8 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 9 . 130698043 38.65 T C PASS 0/1 12 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 9 . 130698002 50.93 C T PASS 0/1 7 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 9 . 130698040 38.64 A T PASS 0/1 12 None None None None None None None None None None