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INDIVIDUALS:

SNP LIST:
GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

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OMIM:
CLINICAL GENOMICS DATABASE:
HGMD:
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CHR:

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VARIANT EFFECT FUNCTIONAL CLASS IMPACT
DBSNP BUILD:


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
OPEN RESULT IN A NEW WINDOW
RESET FILTER | Save Config | Save Analysis

Genes at Omim

ABCA3, ARMC5, ATP2A1, CACNA1H, CCDC78, CES1, CLCN7, CNGB1, COG7, CYBA, EARS2, GAS8, GNAO1, HP, KIF22, LCAT, MLYCD, MVD, NPRL3, NQO1, NTHL1, PHKG2, PKD1, PLCG2, ROGDI, SLC12A3, SRCAP, TELO2, TSC2,
ABCA3 Surfactant metabolism dysfunction, pulmonary, 3, 610921 (3)
ARMC5 ACTH-independent macronodular adrenal hyperplasia 2, 615954 (3)
ATP2A1 Brody myopathy, 601003 (3)
CACNA1H Hyperaldosteronism, familial, type IV, 617027 (3)
{Epilepsy, childhood absence, susceptibility to, 6}, 611942 (3)
{Epilepsy, idiopathic generalized, susceptibility to, 6}, 611942 (3)
CCDC78 Myopathy, centronuclear, 4, 614807 (3)
CES1 Carboxylesterase 1 deficiency (3)
CLCN7 Osteopetrosis, autosomal dominant 2, 166600 (3)
Osteopetrosis, autosomal recessive 4, 611490 (3)
CNGB1 Retinitis pigmentosa 45, 613767 (3)
COG7 Congenital disorder of glycosylation, type IIe, 608779 (3)
CYBA Chronic granulomatous disease, autosomal, due to deficiency of CYBA, 233690 (3)
EARS2 Combined oxidative phosphorylation deficiency 12, 614924 (3)
GAS8 Ciliary dyskinesia, primary, 33, 616726 (3)
GNAO1 Epileptic encephalopathy, early infantile, 17, 615473 (3)
HP [Anhaptoglobinemia], 614081 (3)
[Hypohaptoglobinemia], 614081 (3)
KIF22 Spondyloepimetaphyseal dysplasia with joint laxity, type 2, 603546 (3)
LCAT Fish-eye disease, 136120 (3)
Norum disease, 245900 (3)
MLYCD Malonyl-CoA decarboxylase deficiency, 248360 (3)
MVD Porokeratosis 7, multiple types, 614714 (3)
NPRL3 Epilepsy, familial focal, with variable foci 3, 617118 (3)
NQO1 {Benzene toxicity, susceptibility to} (3)
{Breast cancer, poor survival after chemotherapy for} (3)
{Leukemia, post-chemotherapy, susceptibility to} (3)
NTHL1 Familial adenomatous polyposis 3, 616415 (3)
PHKG2 Cirrhosis due to liver phosphorylase kinase deficiency (3)
Glycogen storage disease IXc, 613027 (3)
PKD1 Polycystic kidney disease, adult type I, 173900 (3)
PLCG2 Autoinflammation, antibody deficiency, and immune dysregulation syndrome, 614878 (3)
Familial cold autoinflammatory syndrome 3, 614468 (3)
ROGDI Kohlschutter-Tonz syndrome, 226750 (3)
SLC12A3 Gitelman syndrome, 263800 (3)
SRCAP Floating-Harbor syndrome, 136140 (3)
TELO2 You-Hoover-Fong syndrome, 616954 (3)
TSC2 Lymphangioleiomyomatosis, somatic, 606690 (3)
Tuberous sclerosis-2, 613254 (3)

Genes at Clinical Genomics Database

ABCA3, ARMC5, ATP2A1, CES1, CLCN7, CNGB1, COG7, CYBA, EARS2, GAS8, GNAO1, HP, KIAA0556, KIF22, LCAT, MLYCD, MVD, NTHL1, PHKG2, PKD1, PLCG2, ROGDI, SLC12A3, SRCAP, TSC2,
ABCA3 Interstitial lung disease
Surfactant metabolism dysfunction, pulmonary, 3
ARMC5 ACTH-independent macronodular adrenal hyperplasia 2
ATP2A1 Brody myopathy
CES1 Carboxylesterase 1 deficiency
CLCN7 Osteopetrosis, autosomal recessive 4
Osteopetrosis, autosomal dominant 2
CNGB1 Retinitis pigmentosa 45
COG7 Congenital disorder of glycosylation, type IIe
CYBA Chronic granulomatous disease, autosomal, due to deficiency of CYBA
EARS2 Combined oxidative phosphorylation deficiency 12
GAS8 Ciliary dyskinesia, primary, 33
GNAO1 Epileptic encephalopathy, early infantile, 17
HP Hypohaptoglobinemia
Anhaptoglobinemia
KIAA0556 Joubert syndrome 26
KIF22 Spondyloepimetaphyseal dysplasia with joint laxity, type 2
LCAT Fish-eye disease
Lecithin:cholesterol acyltransferase deficiency (Norum disease)
MLYCD Malonyl-CoA decarboxylase deficiency
MVD Porokeratosis 7
NTHL1 Familial adenomatous polyposis 3
PHKG2 Glycogen storage disease IXc
PKD1 Polycystic kidney disease, adult type I
PLCG2 Autoinflammation, antibody deficiency, and immune dysregulation syndrome (APLAID)
Familial cold autoinflammatory syndrome 3 (PLAID)
ROGDI Kohlschutter-Tonz syndrome
SLC12A3 Gitelman syndrome
SRCAP Floating-Harbor syndrome
TSC2 Lymphangioleiomyomatosis
Tuberous sclerosis 2

Genes at HGMD

Summary

Number of Variants: 5608
Number of Genes: 138

Export to: CSV

ABCA3

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 16 . 2328295 751.35 C T PASS 0/1 4 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None

ABCC1

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 16 . 16173222 87529.26 A G PASS 1/1 6 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00 0.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 16 . 16138344 14960.56 GT G PASS 1/1 85 FRAME_SHIFT HIGH None None None None None None None

ACSM2A

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 16 . 20486757 142596.06 T G PASS 0/1 57 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 16 . 20480985 25007.76 G A PASS 1/1 27 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 16 . 20480994 20811.76 C T PASS 1/1 20 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 16 . 20480982 25138.76 A T PASS 1/1 26 SYNONYMOUS_CODING LOW None None None None None None None

ACSM2B

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 16 . 20554263 2525.33 G A PASS 1/1 47 SYNONYMOUS_CODING LOW SILENT None None None None None None None

ACSM5

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 16 . 20441019 2347.52 T C PASS 1/1 84 SYNONYMOUS_CODING LOW SILENT None None None None None None None

ANKS4B

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 16 . 21261270 46469.55 G C PASS 0/1 27 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.74 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 16 . 21261965 34394.84 A G PASS 0/1 14 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02 0.06 None None None None None None None

ARMC5

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 16 . 31477595 3726.29 C G PASS 0/1 29 SYNONYMOUS_CODING LOW SILENT None None None None None None None

ATF7IP2

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 16 . 10532030 1696.18 C T PASS 0/1 105 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.05 0.77 None None None None None None None

ATMIN

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 16 . 81077298 165.57 A G PASS 0/1 18 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.05 0.02 None None None None None None None

ATP2A1

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 16 . 28914657 136626.6 T C PASS 0/1 53 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None

ATP2C2

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 16 . 84486790 94846.4 A G PASS 1/1 83 SYNONYMOUS_CODING LOW -0.22 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 16 . 84486931 135964.4 T C PASS 1/1 63 SYNONYMOUS_CODING LOW -2.40 None None None None None None None

ATXN2L

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 16 . 28844201 49412.48 G C PASS 0/1 126 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.03 0.50 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 16 . 28844406 43483.48 A G PASS 0/1 161 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 16 . 28835828 23185.48 G C PASS 0/1 37 None None None None None None None None None None

BAIAP3

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 16 . 1397263 517.17 TC... T PASS 0/1 75 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 16 . 1397277 788.53 A G,* PASS 0/2 75 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 16 . 1397340 342.87 CCG C,* PASS 0/1 40 FRAME_SHIFT HIGH None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 16 . 1397346 347.4 C A,* PASS 0/1 38 SYNONYMOUS_CODING LOW SILENT None None None None None None None

BRD7

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 16 . 50368658 2780.26 C T PASS 0/1 11 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.88 0.14 None None None None None None None

C16orf3

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 16 . 90095697 23.63 G A PASS 0/1 43 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 16 . 90095494 3665.07 A G PASS 1/1 19 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.19 0.01 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 16 . 90095518 5575.24 T C PASS 1/1 8 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.88 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 16 . 90095557 19095.66 GT G PASS 1/1 13 FRAME_SHIFT HIGH None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 16 . 90095695 29.63 C T PASS 0/1 45 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.90 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 16 . 90095702 29.63 G A PASS 0/1 43 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.80 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 16 . 90095704 26.63 G T PASS 0/1 44 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 16 . 90095707 23.63 T C PASS 0/1 47 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.90 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 16 . 90095484 239.34 A G PASS 0/1 36 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 16 . 90095444 40069.39 A G PASS 0/1 102 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 16 . 90095456 499.63 C T PASS 0/1 91 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.09 None None None None None None None

C16orf62

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 16 . 19716546 1174.48 A AAT PASS 0/1 39 None None None None None None None None None None

C16orf71

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 16 . 4797589 1505.4 G A PASS 0/1 61 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None

C16orf96

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 16 . 4650317 7124.55 CAAA CA... PASS 1/1 1 STOP_LOST+CODON_DELETION HIGH None None None None None None None

C16orf98

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 16 . 31214084 1633.29 G A PASS 1/1 19 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 None None None None None None None

CACNA1H

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 16 . 1258153 896.4 G A PASS 0/1 76 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 16 . 1204005 672.78 C T PASS 0/1 52 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.79 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 16 . 1261512 3602.67 G GGGCA PASS 0/1 94 FRAME_SHIFT HIGH None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 16 . 1203907 875.85 G T PASS 0/1 12 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.09 0.10 None None None None None None None

CASKIN1

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 16 . 2237214 2642.95 G A PASS 0/1 107 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 16 . 2235356 25686.8 C T PASS 0/1 121 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 None None None None None None None

CCDC102A

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 16 . 57562640 1793.43 C T PASS 1/1 6 STOP_GAINED HIGH NONSENSE None None None None None None None

CCDC135

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 16 . 57741625 16146.25 C T PASS 1/1 79 None None None 0.00 0.71 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 16 . 57757008 2311.96 T C PASS 1/1 32 SYNONYMOUS_CODING LOW None None None None None None None

CCDC154

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 16 . 1486046 3964.55 T C PASS 0/1 88 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.99 -0.70 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 16 . 1493567 69.84 C G PASS 0/1 3 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 16 . 1486505 3010.4 C T PASS 0/1 142 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 None None None None None None None

CCDC78

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 16 . 773153 4163.4 A G PASS 0/1 114 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.69 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 16 . 775255 3264.85 G A PASS 0/1 88 NON_SYNONYMOUS_CODING MODERATE MISSENSE 3.89 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 16 . 774141 2590.17 T C PASS 1/1 44 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.46 0.21 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 16 . 774371 648.58 C T PASS 0/1 55 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 16 . 774390 339.96 G A PASS 0/1 52 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 16 . 774426 907.2 C T PASS 0/1 55 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 16 . 774473 244.71 G A PASS 0/1 37 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.38 0.04 8.09 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 16 . 774480 2215.48 C T PASS 0/1 36 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 16 . 774940 1894.41 G C PASS 0/1 120 SYNONYMOUS_CODING LOW None None None None None None None

CD2BP2

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 16 . 30365638 18366.63 T C PASS 0/1 59 SYNONYMOUS_CODING LOW None None None None None None None

CDH16

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 16 . 66943191 10829.83 G A PASS 0/1 11 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None

CES1

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 16 . 55846913 42335.63 T G PASS 0/1 15 SYNONYMOUS_CODING LOW None None None None None None None

CES2

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 16 . 66975100 448.46 C T PASS 0/1 43 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.25 None None None None None None None

CLCN7

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 16 . 1505197 299.6 G A PASS 0/1 10 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.06 0.08 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 16 . 1510885 4555.52 A G PASS 0/1 24 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.98 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 16 . 1502875 7332.39 C G PASS 0/1 56 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 16 . 1497476 1234.93 T C PASS 0/1 71 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.08 0.34 None None None None None None None

CLDN6

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 16 . 3065627 69074.0 A C PASS 1/1 346 SYNONYMOUS_CODING LOW None None None None None None None

CLEC16A

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 16 . 11268038 11674.41 C G PASS 1/1 53 None None None None None None None None None None

CNGB1

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 16 . 57996497 8409.91 T C PASS 1/1 45 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.89 0.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 16 . 57957219 23737.74 GC G PASS 1/1 26 FRAME_SHIFT HIGH None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 16 . 57931778 2567.57 C T PASS 0/1 117 SYNONYMOUS_CODING LOW None None None None None None None

COG7

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 16 . 23445969 4756.32 TAA T,TA PASS 0/1 2 FRAME_SHIFT HIGH None None None None None None None

CYBA

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 16 . 88711725 38679.27 C A PASS 0/1 50 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 16 . 88713544 78400.1 C CCT PASS 0/1 24 FRAME_SHIFT HIGH None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 16 . 88711587 23309.75 C T PASS 0/1 113 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 16 . 88709889 169940.08 T C PASS 0/1 157 None None None 0.06 0.02 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 16 . 88716692 1198.61 T C PASS 0/1 113 None None None 0.00 1.65 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 16 . 88714515 88663.06 C G PASS 0/1 114 SYNONYMOUS_CODING LOW None None None None None None None

DNAH3

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 16 . 21136678 7716.47 A G PASS 0/1 21 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.60 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 16 . 21136564 25371.22 T C PASS 0/1 27 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.04 0.16 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 16 . 20975184 123774.27 C T PASS 0/1 16 SYNONYMOUS_CODING LOW None None None None None None None

DPEP1

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 16 . 89696855 3248.15 T C PASS 1/1 90 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.39 0.00 -0.02 None None None None None None None

EARS2

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 16 . 23546397 1609.85 T C PASS 1/1 31 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.99 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 16 . 23546469 1272.93 T C,G PASS 1/1 14 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None

ERN2

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 16 . 23712317 201.4 T A PASS 0/1 8 SYNONYMOUS_CODING LOW None None None None None None None

FHOD1

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 16 . 67281220 13987.82 CT C,... PASS 0/1 23 FRAME_SHIFT HIGH None None None None None None None

FUK

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 16 . 70512331 30872.21 G A PASS 1/1 98 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None

GAS8

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 16 . 90094124 285.25 G A PASS 0/1 7 SYNONYMOUS_CODING LOW SILENT None None None None None None None

GGA2

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 16 . 23521687 1385.62 G A PASS 1/1 25 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.38 0.00 None None None None None None None

GLYR1

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 16 . 4861194 11547.13 T C PASS 0/1 14 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.39 None None None None None None None

GNAO1

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 16 . 56362574 65548.16 C T PASS 0/1 177 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.11 0.05 None None None None None None None

GPR56

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 16 . 57689840 754.63 A G PASS 0/1 44 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.17 0.14 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 16 . 57689327 4346.16 A G PASS 0/1 229 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.14 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 16 . 57689337 4336.96 T C PASS 0/1 243 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 16 . 57690166 495.23 C T PASS 0/1 20 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.99 None None None None None None None

GSE1

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 16 . 85690919 1886.88 T C PASS 1/1 10 SYNONYMOUS_CODING LOW None None None None None None None

HAGHL

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 16 . 778844 2960.11 A G PASS 1/1 7 SYNONYMOUS_CODING LOW None None None None None None None