SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

EXCLUDE SNP LIST:
EXCLUDE GROUPS:

EXCLUDE SAVED GENE LIST:

EXCLUDE GENE LIST:
SELECT YOUR DISEASES:
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
RESET FILTER | Save Config | Save Analysis

Genes at Omim

ANK1, ESCO2, FAM83H, SLC39A14, TG, VPS13B, WHSC1L1,
ANK1 Spherocytosis, type 1, 182900 (3)
ESCO2 SC phocomelia syndrome, 269000 (3)
Roberts syndrome, 268300 (3)
FAM83H Amelogenesis imperfecta, type III, 130900 (3)
SLC39A14 Hypermanganesemia with dystonia 2, 617013 (3)
TG {Autoimmune thyroid disease, susceptibility to, 3}, 608175 (3)
Thyroid dyshormonogenesis 3, 274700 (3)
VPS13B Cohen syndrome, 216550 (3)
WHSC1L1 Leukemia, acute myeloid, 601626 (3)

Genes at Clinical Genomics Database

ANK1, ESCO2, FAM83H, PLEC, TG, VPS13B,
ANK1 Spherocytosis, hereditary 1
ESCO2 Roberts syndrome
SC phocomelia syndrome
FAM83H Amelogenesis imperfecta, type 3
PLEC Epidermolysis bullosa simplex with nail dystrophy
Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex with muscular dystrophy
Epidermolysis bullosa simplex with pyloric atresia
Muscular dystrophy, limb-girdle, type 2Q
TG Thyroid dyshormonogenesis 3
VPS13B Cohen syndrome

Genes at HGMD

Summary

Number of Variants: 4636
Number of Genes: 41

Export to: CSV

ANK1

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 8 . 41530402 11042.59 C T PASS 1/1 30 SYNONYMOUS_CODING LOW SILENT None None None None None None None

ARC

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 8 . 143695351 2175.11 G A PASS 1/1 61 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 8 . 143694543 15920.63 A C PASS 1/1 101 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 8 . 143695196 680.94 T C PASS 1/1 5 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00 0.00 None None None None None None None

BAI1

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 8 . 143562617 21164.72 T A PASS 1/1 107 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.29 0.69 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 8 . 143560684 2345.54 G A PASS 0/1 116 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.04 0.40 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 8 . 143560816 4137.23 T C PASS 1/1 49 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.62 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 8 . 143559583 66162.79 A C PASS 0/1 109 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.06 0.64 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 8 . 143561151 21918.53 A G PASS 1/1 77 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 8 . 143566023 488.91 A G PASS 0/1 19 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.07 0.82 None None None None None None None

CDCA2

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 8 . 25323840 39665.87 C T PASS 1/1 27 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE None None None None None None None

CSMD1

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 8 . 3000143 20316.96 A C PASS 0/1 56 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 8 . 3000188 5148.26 A G PASS 0/1 18 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.04 None None None None None None None

DEFA1

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 8 . 6835387 1141.18 G C PASS 1/1 12 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.21 0.00 None None None None None None None

DLGAP2

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 8 . 1626682 2284.94 C T PASS 0/1 95 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.70 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 8 . 1626670 1843.0 T C PASS 0/1 72 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02 0.99 None None None None None None None

ENTPD4

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 8 rs753880920
dbSNP
23290490 2928.23 G A PASS 0/1 8 SYNONYMOUS_CODING LOW SILENT None None None None None None None

EPPK1

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 8 . 144945899 6354.82 G A PASS 1/1 43 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 8 . 144946051 27312.82 A G PASS 1/1 106 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 8 . 144946362 5708.86 G A PASS 1/1 84 STOP_GAINED HIGH NONSENSE None None None None None None None

ESCO2

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 8 . 27634137 1736.27 C G PASS 0/1 73 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 8 . 27634024 80.25 T A PASS 0/1 7 SYNONYMOUS_CODING LOW None None None None None None None

FAM83H

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 8 . 144810849 1542.66 A G PASS 1/1 13 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.96 None None None None None None None

FER1L6

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 8 . 125078704 10554.36 TG... T PASS 0/1 22 FRAME_SHIFT HIGH None None None None None None None

GLI4

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 8 . 144357324 8726.71 G A PASS 0/1 28 None None None None None None None None None None

LY6D

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 8 . 143867013 57936.68 G C PASS 0/1 156 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.10 0.00 -1.83 None None None None None None None

MAFA

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 8 . 144512253 76008.45 A G PASS 1/1 188 SYNONYMOUS_CODING LOW SILENT None None None None None None None

MYOM2

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 8 . 2057296 25320.75 C T PASS 1/1 5 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None

OC90

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 8 . 133036930 565.17 A G PASS 0/1 21 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.85 None None None None None None None

OPRK1

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 8 . 54147367 21427.96 T G PASS 0/1 62 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.06 0.88 None None None None None None None

PIWIL2

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 8 . 22163524 14971.8 C A PASS 1/1 65 SYNONYMOUS_CODING LOW 3.78 None None rs4715 2 not_specified 1 None

PLEC

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 8 . 145003654 517.27 T G PASS 0/1 32 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 8 . 144996736 466.93 C T PASS 0/1 20 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 8 . 144994708 859.98 C T PASS 0/1 29 SYNONYMOUS_CODING LOW None None None None None None None

POLB

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 8 . 42207580 698.93 T G PASS 0/1 60 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None

REXO1L1P

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 8 . 86573923 3314.13 A G PASS 1/1 90 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None

RHPN1

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 8 . 144464728 28837.25 CCTCT C PASS 1/1 39 FRAME_SHIFT HIGH None None None None None None None

RP11-386G21.2

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 8 . 56074199 2430.4 T C PASS 0/1 80 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.90 None None None None None None None

RUNX1T1

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 8 . 93029586 921.02 A C PASS 1/1 3 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.23 0.07 None None None None None None None

SCARA3

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 8 . 27516406 59517.82 T C PASS 0/1 48 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.15 0.98 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 8 . 27516348 76094.88 G A PASS 0/1 63 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.56 0.00 6.38 None None None None None None None

SLC39A14

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 8 . 22275324 2204.01 C T PASS 1/1 76 SYNONYMOUS_CODING LOW SILENT None None None None None None None

SLCO5A1

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 8 . 70594455 34.49 CA C PASS 0/1 12 FRAME_SHIFT HIGH None None None None None None None

SORBS3

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 8 . 22422826 497.2 T TTTG PASS 0/1 27 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None

STC1

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 8 . 23702404 635.91 A AG PASS 0/1 32 FRAME_SHIFT HIGH None None None None None None None

TBC1D31

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 8 . 124094960 183194.46 G A PASS 1/1 50 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 8 . 124094966 184882.08 C T PASS 1/1 52 SYNONYMOUS_CODING LOW SILENT None None None None None None None

TEX15

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 8 . 30703370 19450.69 C T PASS 1/1 4 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 1.00 None None None None None None None

TG

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 8 . 133894146 507.94 A G PASS 0/1 27 SYNONYMOUS_CODING LOW None None None None None None None

THEM6

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 8 . 143808783 642.63 A G PASS 0/1 75 SYNONYMOUS_CODING LOW None None None None None None None

TOP1MT

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 8 rs200729884
dbSNP
144399893 5006.62 C T PASS 0/1 56 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.00100 0.00100 0.23 0.06 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 8 . 144398231 12782.27 C G,A,* PASS 0/1 0 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.76 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 8 . 144392334 1916.5 T TG... PASS 0/1 21 CODON_INSERTION MODERATE None None None None None None None

UBR5

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 8 . 103324444 15656.12 G A PASS 1/1 9 SYNONYMOUS_CODING LOW None None None None None None None

USP17L2

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 8 . 11996087 78946.27 A G PASS 0/1 20 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None

VPS13B

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 8 . 100533227 1035.06 T C PASS 0/1 109 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None

WHSC1L1

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 8 . 38172178 11264.12 C A,... PASS 0/1 8 FRAME_SHIFT HIGH None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 8 . 38172190 14092.57 G C PASS 1/1 6 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 8 . 38146269 157254.9 T C PASS 1/1 110 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None

ZC3H3

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 8 . 144522244 962.5 T C PASS 0/1 68 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.05 0.41 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 8 . 144522213 1207.36 G A PASS 1/1 37 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.00 0.97 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 8 . 144522234 894.05 A AC PASS 0/1 55 FRAME_SHIFT HIGH None None None None None None None

ZMAT4

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 8 . 40532323 45504.0 T C PASS 1/1 9 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 8 . 40532414 15840.61 TAA T PASS 1/1 5 FRAME_SHIFT HIGH 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 8 . 144408988 85961.9 C G PASS 1/1 94 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 8 . 144400134 77.93 G GC PASS 1/1 2 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 8 . 144399250 11504.7 C T PASS 0/1 115 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 8 . 144398573 102194.72 G A PASS 0/1 154 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 8 . 144398491 68955.76 C CC... PASS 0/1 105 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 8 . 144397883 44530.23 C T PASS 0/1 133 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 8 . 144397708 30074.27 C T PASS 0/1 85 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 8 . 144395081 32293.28 C G PASS 0/1 100 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 8 . 144393647 5270.48 G C PASS 0/1 51 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 8 . 144393382 696.77 G A PASS 0/1 11 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 8 . 144393097 6371.15 G A PASS 0/1 74 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 8 . 144393094 6427.66 G A PASS 0/1 69 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 8 . 144392053 66665.33 A G PASS 1/1 53 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 8 . 144390576 4267.21 G A PASS 0/1 8 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 8 . 144379425 21811.35 C A PASS 0/1 103 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 8 . 144360538 163279.9 A G PASS 1/1 62 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 8 . 144359179 22141.55 T C PASS 0/1 28 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 8 . 144356294 66076.71 G GG... PASS 0/1 64 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 8 . 144356291 41440.1 A ACC,* PASS 0/1 64 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 8 . 144356289 37916.57 G GG... PASS 0/1 63 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 8 . 144355665 60361.9 C T PASS 1/1 51 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 8 . 144354636 976.9 G A PASS 0/1 70 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 8 . 144354339 1272.15 T A PASS 0/1 62 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 8 . 144354169 4432.63 A C PASS 0/1 99 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 8 . 144354164 4531.93 C G PASS 0/1 103 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 8 . 144330413 2258.15 C T PASS 1/1 26 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 8 . 144312370 787.47 A G PASS 0/1 7 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 8 . 144289233 104524.2 T C PASS 1/1 113 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 8 . 144276329 71861.4 C T PASS 1/1 66 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 8 . 144261378 12.75 C A PASS 0/1 8 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 8 . 144261253 440.76 G A PASS 0/1 24 None None None -0.01 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 8 . 144261243 988.56 C T PASS 0/1 31 None None None 0.59 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 8 . 144255604 1121.67 C T PASS 0/1 50 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 8 . 144254985 3248.57 C T PASS 0/1 20 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 8 . 144254922 594.71 C T PASS 0/1 64 None None None 6.90 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 8 . 144245301 21705.68 T G PASS 0/1 124 None None None None None None None None None None