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

A4GALT, CECR1, DEPDC5, EP300, IL17RA, MORC2, TRIOBP,
A4GALT [Blood group, P1Pk system, p phenotype], 111400 (3)
[Blood group, P1Pk system, P(2) phenotype], 111400 (3)
NOR polyagglutination syndrome, 111400 (3)
CECR1 Polyarteritis nodosa, childhood-onset, 615688 (3)
?Sneddon syndrome, 182410 (3)
DEPDC5 Epilepsy, familial focal, with variable foci 1, 604364 (3)
EP300 Rubinstein-Taybi syndrome 2, 613684 (3)
Colorectal cancer, somatic, 114500 (3)
IL17RA ?Candidiasis, familial, 5, autosomal recessive, 613953 (3)
MORC2 Charcot-Marie-Tooth disease, axonal, type 2Z, 616688 (3)
TRIOBP Deafness, autosomal recessive 28, 609823 (3)

Genes at Clinical Genomics Database

A4GALT, CECR1, DEPDC5, EP300, IL17RA, MORC2, TRIOBP,
A4GALT Blood group, P system
CECR1 Sneddon syndrome
Polyarteritis nodosa, childhood-onset (ADA2 deficiency)
DEPDC5 Epilepsy, familial focal, with variable foci
EP300 Rubinstein-Taybi syndrome 2
IL17RA Candiasis, familial, 5
MORC2 Charcot-Marie-Tooth disease type, axonal, type 2Z
TRIOBP Deafness, autosomal recessive 28

Genes at HGMD

Summary

Number of Variants: 2951
Number of Genes: 42

Export to: CSV

A4GALT

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 22 . 43089379 686.51 T G PASS 0/1 10 SYNONYMOUS_CODING LOW SILENT None None None None None None None

APOBEC3B

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 22 . 39381817 50807.99 C CCAA PASS 0/1 100 CODON_CHANGE_PLUS_CODON_INSERTION+SPLICE_SITE_REGION MODERATE None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 22 . 39385580 1040.38 C T PASS 0/1 41 SYNONYMOUS_CODING LOW SILENT None None None None None None None

ARFGAP3

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 22 . 43227606 862.61 G A PASS 0/1 15 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.17 0.00 None None None None None None None

ARVCF

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 22 . 19968739 14958.26 G GC PASS 0/1 55 FRAME_SHIFT HIGH None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 22 . 19967324 1103.06 G A PASS 0/1 74 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 22 . 19967393 164.28 AT A,ATT PASS 0/2 30 FRAME_SHIFT HIGH None None None None None None None

BRD1

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 22 . 50217667 13744.81 A G PASS 1/1 99 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.14 0.84 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 22 . 50216669 5048.09 A G PASS 1/1 23 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.08 0.00 None None None None None None None

CARD10

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 22 . 37906323 39.7 A T PASS 0/1 8 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 22 . 37912041 36031.18 AT... AT... PASS 0/1 15 FRAME_SHIFT HIGH None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 22 . 37912284 28238.36 C T PASS 0/1 11 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None

CECR1

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 22 . 17684569 91.28 T G PASS 0/1 11 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.06 0.19 None None None None None None None

CECR5

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 22 rs776726039
dbSNP
17619195 357.71 G A PASS 0/1 6 STOP_GAINED HIGH NONSENSE None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 22 . 17618925 779.09 G A PASS 0/1 66 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 22 . 17619068 1133.73 C T PASS 0/1 38 SYNONYMOUS_CODING LOW -0.46 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 22 . 17619246 284.02 C G PASS 0/1 13 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.00 1.00 None None None None None None None

CECR6

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 22 . 17601267 29122.24 C T PASS 0/1 33 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.33 0.00 None None None None None None None

CLTCL1

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 22 . 19196584 17670.23 T C PASS 1/1 89 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.03 1.00 4.01 None None None None None None None

CRELD2

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 22 . 50319112 1307.85 T C PASS 0/1 25 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 22 . 50316037 33880.5 C T PASS 0/1 63 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00 0.01 None None None None None None None

CYTH4

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 22 . 37696998 309.22 C T PASS 0/1 14 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.95 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 22 . 37696956 16.25 G T PASS 0/1 8 SYNONYMOUS_CODING LOW None None None None None None None

DEPDC5

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 22 . 32150959 32324.64 C T PASS 0/1 86 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.99 None None None None None None None

DESI1

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 22 . 41997137 12.95 C A PASS 0/1 7 SYNONYMOUS_CODING LOW SILENT None None None None None None None

EFCAB6

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 22 . 43933317 4065.88 G A PASS 1/1 12 STOP_GAINED HIGH NONSENSE None None None None None None None

ELFN2

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 22 . 37769216 7217.72 CG C PASS 0/1 51 FRAME_SHIFT HIGH None None None None None None None

ENTHD1

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 22 . 40217032 2035.67 A G PASS 1/1 36 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 22 . 40217069 1748.22 A G PASS 1/1 32 SYNONYMOUS_CODING LOW None None None None None None None

EP300

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 22 . 41574905 1825.65 T C PASS 0/1 73 SYNONYMOUS_CODING LOW None None None None None None None

FAM230A

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 22 . 20710068 11110.59 A C PASS 0/1 87 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 22 . 20695324 1068.93 C G PASS 0/1 74 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 None None None None None None None

GALR3

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 22 . 38221326 5967.98 T C PASS 0/1 15 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 22 . 38219529 1126.81 A T PASS 1/1 2 SYNONYMOUS_CODING LOW None None None None None None None

GGT5

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 22 . 24627357 152.16 A G PASS 0/1 8 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None

GGTLC3

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 22 . 20366862 64.63 C G PASS 0/1 13 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.01 None None None None None None None

HSCB

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 22 . 29141901 123.63 C T PASS 0/1 15 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.92 None None None None None None None

IL17RA

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 22 . 17589567 7181.42 A ACTT PASS 0/1 37 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None

IL17REL

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 22 . 50437928 20859.68 C G PASS 0/1 92 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.14 0.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 22 . 50436464 3263.98 C T PASS 0/1 86 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None

KLHL22

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 22 . 20819583 192.65 G A PASS 1/1 7 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.77 None None None None None None None

LIMK2

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 22 . 31661978 1550.35 C T PASS 0/1 12 STOP_GAINED HIGH NONSENSE None None None None None None None

MEI1

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 22 . 42141057 54.82 C T PASS 0/1 6 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 22 . 42142019 27846.71 G A PASS 1/1 208 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.97 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 22 rs756264026
dbSNP
42141012 943.73 T C PASS 1/1 4 SYNONYMOUS_CODING LOW SILENT None None None None None None None

MORC2

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 22 . 31328986 24203.03 CA C PASS 0/1 46 FRAME_SHIFT HIGH None None None None None None None

OSBP2

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 22 . 31090305 2264.01 G C PASS 0/1 2 None None None 0.02 0.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 22 . 31090925 41980.63 C G PASS 0/1 109 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 22 . 31289472 30692.02 G A PASS 0/1 140 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 22 . 31289143 4302.31 C T PASS 0/1 55 SYNONYMOUS_CODING LOW None None None None None None None

PLXNB2

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 22 . 50720071 689.16 T G PASS 0/1 5 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.94 None None None None None None None

PNPLA5

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 22 . 44285732 145404.75 A G PASS 0/1 41 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 0.93 None None None None None None None

PRR14L

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 22 . 32113102 586.17 G T PASS 0/1 20 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02 0.37 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 22 . 32110054 1560.4 A G PASS 0/1 54 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 22 . 32110063 1597.4 C G PASS 0/1 57 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.22 0.00 0.18 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 22 . 32110156 1683.4 C T PASS 0/1 62 SYNONYMOUS_CODING LOW SILENT None None None None None None None

RANBP1

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 22 . 20114567 81957.82 T C PASS 1/1 75 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 22 . 20113911 1272.22 G A PASS 0/1 6 SYNONYMOUS_CODING LOW SILENT None None None None None None None

RIMBP3

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 22 . 20457643 2126.0 C A PASS 1/1 16 SYNONYMOUS_CODING LOW None None None None None None None

TOM1

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 22 . 35718007 41431.11 C T PASS 0/1 33 PROTEIN_INTERACTION_LOCUS HIGH 0.00 0.85 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 22 . 35718000 43828.1 C T PASS 0/1 37 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None

TRIOBP

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 22 . 38109340 7490.55 G A PASS 0/1 53 STOP_GAINED HIGH NONSENSE None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 22 . 38109349 6660.43 A G PASS 0/1 48 NON_SYNONYMOUS_CODING MODERATE MISSENSE None None None None None None None

TTC38

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 22 . 46668267 5975.29 C A PASS 0/1 12 SYNONYMOUS_CODING LOW SILENT None None None None None None None

TTLL12

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 22 . 43570271 287.94 G T PASS 0/1 17 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 0.96 None None None None None None None

TXNRD2

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 22 . 19898920 1827.56 G A PASS 0/1 14 SYNONYMOUS_CODING LOW SILENT None None None None None None None

ZBED4

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 22 . 50277544 21014.3 G T PASS 1/1 21 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.61 0.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 22 . 50277738 72929.53 G A PASS 1/1 109 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 1.00 -0.01 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 22 . 50280822 18346.71 A G PASS 1/1 115 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 22 . 50279118 4815.2 T C PASS 0/1 23 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01 1.00 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 22 . 50279968 33500.69 A G PASS 1/1 82 SYNONYMOUS_CODING LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 22 . 50280736 10389.08 T C PASS 0/1 26 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 22 . 50278700 10008.47 T G PASS 1/1 52 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02 1.00 None None None None None None None

ZC3H7B

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 22 . 41752463 5473.7 G A PASS 1/1 55 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00 1.00 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 22 . 50000765 7436.86 C T PASS 0/1 22 None None None -0.22 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 22 . 49999547 3940.08 G T PASS 0/1 11 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 22 . 49998417 25464.99 G GTCC PASS 1/1 20 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 22 . 49997051 9199.89 A G PASS 0/1 68 None None None -0.65 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 22 . 49963202 6918.32 C T PASS 1/1 23 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 22 . 49963045 25662.75 T C PASS 1/1 64 None None None -1.87 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 22 . 49962907 44609.76 T C PASS 1/1 51 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 22 . 49962654 38152.28 C T PASS 0/1 34 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 22 . 49962626 25995.71 C T PASS 0/1 18 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 22 . 49961171 2627.69 C A PASS 0/1 78 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 22 . 49886488 39384.02 T C PASS 1/1 181 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 22 . 49884994 110778.02 C T PASS 1/1 105 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 22 . 49884920 89315.1 A G PASS 1/1 89 None None None -2.81 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 22 . 49884790 137119.81 A G PASS 1/1 75 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 22 . 49884235 92222.81 A G PASS 1/1 85 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 22 . 49884187 86822.81 T C PASS 1/1 81 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 22 . 49883261 1880.61 G A PASS 1/1 30 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 22 . 49774004 13398.92 T C PASS 0/1 9 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 22 . 49657359 2053.66 A G PASS 1/1 35 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 22 . 49657211 777.01 G A PASS 1/1 15 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 22 rs190181773
dbSNP
49657199 907.25 G A PASS 1/1 16 None None None 0.00020 0.00020 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 22 . 49626940 1635.09 G A PASS 0/1 143 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 22 . 49625006 1947.63 T A PASS 1/1 29 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 22 . 49625003 2001.55 C T PASS 1/1 31 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 22 . 49624991 2320.13 G A PASS 1/1 43 None None None None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 22 . 49624849 4514.67 G A PASS 1/1 138 None None None None None None None None None None