SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

EXCLUDE SNP LIST:
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EXCLUDE SAVED GENE LIST:

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OMIM:
CLINICAL GENOMICS DATABASE:
HGMD:
MUTATION TYPE:
CHR:

POS:
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
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Genes at Omim

ACTN1, CALM1, CCDC88C, CHD8, COCH, DYNC1H1, GALC, GPHN, INF2, MGAT2, NIN, POMT2, SYNE2, TRAC, TRAF3, XRCC3,
ACTN1 Bleeding disorder, platelet-type, 15, 615193 (3)
CALM1 Ventricular tachycardia, catecholaminergic polymorphic, 4, 614916 (3)
Long QT syndrome 14, 616247 (3)
CCDC88C Hydrocephalus, nonsyndromic, autosomal recessive, 236600 (3)
?Spinocerebellar ataxia 40, 616053 (3)
CHD8 {Autism, susceptibility to, 18}, 615032 (3)
COCH Deafness, autosomal dominant 9, 601369 (3)
DYNC1H1 Spinal muscular atrophy, lower extremity-predominant 1, AD, 158600 (3)
Mental retardation, autosomal dominant 13, 614563 (3)
Charcot-Marie-Tooth disease, axonal, type 20, 614228 (3)
GALC Krabbe disease, 245200 (3)
GPHN Molybdenum cofactor deficiency C, 615501 (3)
INF2 Glomerulosclerosis, focal segmental, 5, 613237 (3)
Charcot-Marie-Tooth disease, dominant intermediate E, 614455 (3)
MGAT2 Congenital disorder of glycosylation, type IIa, 212066 (3)
NIN ?Seckel syndrome 7, 614851 (3)
POMT2 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2, 613158 (3)
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2, 613156 (3)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150 (3)
SYNE2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant, 612999 (3)
TRAC Immunodeficiency 7, TCR-alpha/beta deficient, 615387 (3)
TRAF3 {?Herpes simplex encephalitis, susceptibility to, 3}, 614849 (3)
XRCC3 {Melanoma, cutaneous malignant, 6}, 613972 (3)
{Breast cancer, susceptibility to}, 114480 (3)

Genes at Clinical Genomics Database

ACTN1, CALM1, CCDC88C, CHD8, COCH, DYNC1H1, GALC, GPHN, INF2, MGAT2, NIN, POMT2, SYNE2, TRAC, TRAF3,
ACTN1 Bleeding disorder, platelet-type, 15
CALM1 Ventricular tachycardia, catecholaminergic polymorphic, 4
Recurrent cardiac arrest, infantile
Long QT syndrome 14
CCDC88C Spinocerebellar ataxia 40
CHD8 Autism, susceptibility to 18
COCH Deafness, autosomal dominant 9
DYNC1H1 Spinal muscular atrophy, lower extremity, autosomal dominant
Mental retardation, autosomal dominant 13
Charcot-Marie-Tooth disease, axonal, type 2O
GALC Krabbe disease
GPHN Molybdenum cofactor deficiency, type C
Hyperekplexia, autosomal dominant
INF2 Charcot-Marie-Tooth disease, dominant intermediate E
Focal segmental glomerulosclerosis 5
MGAT2 Congenital disorder of glycosylation, type IIa
NIN Seckel syndrome 7
POMT2 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C 2
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2
SYNE2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant
TRAC T-cell receptor-alpha/beta deficiency
TRAF3 Herpes simplex encephalitis, susceptibility to, 3

Genes at HGMD

Summary

Number of Variants: 4101
Number of Genes: 62

Export to: CSV

ACOT4

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 14 . 74060500 41906.4 G A PASS 1/1 3 SYNONYMOUS_CODING LOW SILENT None None None None None None None

ACTN1

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 14 . 69341671 993.63 C T PASS 0/1 88 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.14 0.63 None None None None None None None

AKAP5

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 14 . 64935443 834.19 A G PASS 0/1 79 SYNONYMOUS_CODING LOW None None None None None None None

AL049840.1

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 23 recalibrated filtered postcgp gqfiltered 14 . 104177810 3961.54 C T PASS 0/1 36 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 14 . 104177762 2396.39 T C PASS 0/1 54 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None

ANKRD9

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 14 . 102974136 61559.57 G C PASS 0/1 99 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.15 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 14 . 102973945 101130.2 G T PASS 1/1 112 SYNONYMOUS_CODING LOW SILENT None None None None None None None

AP1G2

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 14 . 24036513 14791.13 C G PASS 0/1 133 SYNONYMOUS_CODING LOW None None None None None None None

CALM1

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 14 . 90870805 14.03 CTT C PASS 0/1 6 FRAME_SHIFT HIGH None None None None None None None

CCDC176

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 14 . 74516788 985.11 GT G PASS 1/1 12 FRAME_SHIFT HIGH None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 14 . 74516792 980.35 C G PASS 1/1 13 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.26 0.28 None None None None None None None

CCDC88C

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 14 . 91779821 1757.15 C A PASS 1/1 54 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.01 None None None None None None None

CHD8

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 14 . 21854192 20135.27 T C PASS 1/1 18 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 14 . 21854234 19578.58 G C PASS 1/1 11 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 14 . 21853991 25130.27 A G PASS 1/1 15 SYNONYMOUS_CODING LOW SILENT None None None None None None None

CKB

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 14 . 103986303 36383.86 G A PASS 0/1 43 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None

CLMN

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 14 . 95670457 36064.2 A G PASS 0/1 91 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 14 . 95669520 27783.6 C T PASS 0/1 33 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 14 . 95670438 14363.27 C A PASS 0/1 82 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.85 None None None None None None None

COCH

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 14 . 31349841 47662.78 C T PASS 1/1 45 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 6.76 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 14 . 31358870 129063.79 A C PASS 1/1 43 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None

DCAF5

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 14 . 69522237 3588.29 T G PASS 1/1 101 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.97 None None None None None None None

DHRS4

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 14 . 24429149 2054.61 C A PASS 0/1 21 SYNONYMOUS_CODING LOW SILENT None None None None None None None

DYNC1H1

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 14 . 102452349 14279.51 T C PASS 0/1 170 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.92 None None None None None None None

EAPP

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 14 . 35008579 22174.86 G A PASS 1/1 6 None None None None None None None None None None

EFCAB11

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 14 . 90398939 1343.22 T C PASS 1/1 25 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.35 0.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 14 rs754059853
dbSNP
90263640 71081.3 C T PASS 1/1 4 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.78 0.17 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 14 . 90263587 28495.73 T C PASS 1/1 9 SYNONYMOUS_STOP LOW SILENT None None None None None None None

EXOC3L4

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 14 . 103574077 15052.92 C A PASS 0/1 1 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 14 . 103574078 7781.06 CT... CT... PASS 1/1 1 FRAME_SHIFT HIGH None None None None None None None

FAM161B

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 14 . 74409252 608.65 AT A,ATT PASS 0/1 14 FRAME_SHIFT HIGH None None None None None None None

FOXN3

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 14 . 89629101 539.85 T C PASS 0/1 61 SYNONYMOUS_CODING LOW None None None None None None None

GALC

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 14 . 88417023 18897.43 A G PASS 1/1 56 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.08 0.30 None None None None None None None

GPHN

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 14 . 67648284 9572.0 A G PASS 0/1 11 None None None None None None None None None None

HEATR4

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 14 . 73974981 135166.53 G A PASS 0/1 36 SYNONYMOUS_CODING LOW None None None None None None None

HHIPL1

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 14 . 100141937 5414.99 T C PASS 0/1 8 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 14 . 100126622 44576.69 G A PASS 0/1 37 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.56 None None None None None None None

INF2

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 14 . 105177282 5658.8 G A PASS 1/1 52 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 14 . 105177315 3795.79 A C PASS 1/1 36 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.00 None None None None None None None

KCNH5

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 14 . 63269236 15518.69 T G PASS 0/1 63 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.33 0.25 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 14 . 63269144 5947.35 C T PASS 0/1 61 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None

KLHDC2

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 14 . 50246961 30140.9 T G PASS 1/1 11 SYNONYMOUS_CODING LOW SILENT None None None None None None None

LRP10

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 14 . 23346200 1405.18 G C PASS 0/1 19 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.67 0.00 None None None None None None None

LRRC9

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 14 . 60397690 1693.06 A T PASS 0/1 11 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 14 . 60485894 1825.68 A G PASS 0/1 37 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.15 0.16 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 14 . 60465851 27637.92 AA... A,... PASS 1/2 25 FRAME_SHIFT HIGH None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 14 . 60433395 876.16 C T PASS 1/1 33 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.41 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 14 . 60397688 3082.9 TA T PASS 0/1 11 FRAME_SHIFT HIGH None None None None None None None

MAP4K5

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 14 . 50886775 14985.13 T C PASS 1/1 95 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.18 0.99 None None None None None None None

MGAT2

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 14 . 50088946 756.81 G T PASS 0/1 11 SYNONYMOUS_CODING LOW None None None None None None None

NIN

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 14 . 51243790 20422.98 T TA PASS 1/1 32 FRAME_SHIFT HIGH None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 14 . 51243825 3287.3 C CT PASS 1/1 28 FRAME_SHIFT HIGH None None None None None None None

NRXN3

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 14 . 78709790 25070.77 G T PASS 0/1 23 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 14 . 78709811 18827.91 G C PASS 0/1 10 SYNONYMOUS_CODING LOW SILENT None None None None None None None

NYNRIN

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 14 . 24878671 501.18 C T PASS 0/1 38 SYNONYMOUS_CODING LOW None None None None None None None

OR4N2

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 14 . 20296426 147536.23 A C PASS 0/1 57 SYNONYMOUS_CODING LOW None None None None None None None

OR6J1

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 14 . 23103567 1167.98 T TA... PASS 1/1 12 FRAME_SHIFT HIGH None None None None None None None

OSGEP

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 14 . 20920143 134939.49 G A PASS 0/1 138 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None

POLE2

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 14 . 50117047 472.11 T TTG,G PASS 0/1 49 FRAME_SHIFT HIGH None None None None None None None

POMT2

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 14 . 77755161 8491.69 C CAAGA PASS 1/1 17 FRAME_SHIFT HIGH None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 14 . 77755158 8489.65 ACT A PASS 1/1 17 FRAME_SHIFT HIGH None None None None None None None

POTEM

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 14 . 20002240 2617.18 G A PASS 1/1 79 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None

PPP2R5C

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 14 . 102348608 9977.47 G A PASS 0/1 33 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 14 . 102349853 494.63 A G PASS 0/1 45 SYNONYMOUS_CODING LOW None None None None None None None

RBM23

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 14 . 23373530 5900.45 G T PASS 0/1 8 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.83 0.01 None None None None None None None

RBM25

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 14 . 73569909 2929.8 G T PASS 0/1 100 STOP_GAINED HIGH NONSENSE None None None None None None None

RNASE9

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 14 . 21024949 217.03 G A PASS 0/1 6 SYNONYMOUS_CODING LOW None None None None None None None

RP11-998D10.1

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 23 recalibrated filtered postcgp gqfiltered 14 . 21501949 99581.16 T C PASS 1/1 29 SYNONYMOUS_CODING LOW SILENT None None None None None None None

SMEK1

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 14 . 91937316 16166.58 T C PASS 0/1 8 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.95 None None None None None None None

SYNE2

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 14 . 64565508 61432.74 C T PASS 1/1 86 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.87 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 14 . 64468693 22119.36 C T PASS 0/1 43 SYNONYMOUS_CODING LOW -0.61 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 14 . 64542816 9245.04 C CT PASS 0/1 30 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None None None None None None None

TMEM253

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 14 . 21570079 29370.3 G T PASS 0/1 91 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None

TMEM30B

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 14 . 61747211 34047.83 A AT PASS 1/1 5 FRAME_SHIFT HIGH None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 14 . 61747130 115609.72 T C PASS 1/1 30 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.87 0.00 None None None None None None None

TMEM63C

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 14 . 77718223 393753.41 C A PASS 1/1 53 SYNONYMOUS_CODING LOW SILENT 1.39 None None None None None None None

TPPP2

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 14 rs764570838
dbSNP
21499294 38202.67 G A PASS 1/1 25 SYNONYMOUS_CODING LOW SILENT None None None None None None None

TRAC

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 14 . 23016553 624.69 G T PASS 0/1 24 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.06 0.02 None None None None None None None

TRAF3

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 14 . 103336581 2399.46 CAA C,... PASS 1/2 8 FRAME_SHIFT HIGH None None None None None None None

TRAV8-1

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 23 recalibrated filtered postcgp gqfiltered 14 . 22265772 1005.5 G C PASS 0/1 27 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 14 . 22265607 105.18 A G PASS 0/1 15 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.85 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 14 . 22265774 1008.32 T C PASS 0/1 28 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 14 . 22265875 379.6 G T PASS 0/1 16 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 14 . 22265811 430.19 C G PASS 0/1 14 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00 0.00 None None None None None None None

TRDJ1

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 14 . 22919117 2007.4 A C PASS 1/1 68 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 None None None None None None None

TTC6

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 14 . 38208330 1275.66 G A PASS 0/1 65 SYNONYMOUS_CODING LOW None None None None None None None

UNC79

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 14 . 93934085 613.59 T C PASS 1/1 11 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02 0.99 None None None None None None None

VASH1

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 14 . 77242461 38235.94 C T PASS 0/1 42 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 14 . 77242584 15.63 A G PASS 0/1 6 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02 0.99 None None None None None None None

XRCC3

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 14 . 104177384 6411.21 C A PASS 1/1 148 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.72 None None None None None None None

ZFHX2

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 14 . 23995305 2579.43 T A PASS 0/1 22 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 14 . 24000929 6791.36 C T PASS 0/1 127 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.99 11.59 None None None None None None None

ZFYVE1

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 14 . 73490977 6194.23 C G PASS 1/1 12 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 14 . 73491067 16940.34 A G PASS 1/1 88 SYNONYMOUS_CODING LOW SILENT 1.03 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 14 . 73491111 1208.63 C A PASS 0/1 129 STOP_GAINED HIGH NONSENSE 0.70 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 14 . 73490963 214.85 C G PASS 0/1 10 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.25 None None None None None None None
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 14 . 104593687 1296.29 A G PASS 1/1 27 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 14 . 104593236 321.23 C T PASS 0/1 13 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 14 . 104591611 470.94 C T PASS 0/1 19 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 14 . 104589910 682.75 T C PASS 0/1 38 None None None None None None None None None None