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

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 5
Number of Genes: 1

Export to: CSV
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TSPY1

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 h06400082-ib-ex-60-1795_s23 soft_filtered Y rs777840135
dbSNP Clinvar
9304866 1272.6 G A basic_snp_filter 0/1 118 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.60 0.10 None None None None None None TSPY3|0.002096214|90.74%,TSPY1|0.0011843|94.53%
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 h06400082-ib-ex-60-1795_s23 soft_filtered Y rs763978365
dbSNP Clinvar
21894633 103.02 CA C PASS 0/1 8 None None None None None None None None None KDM5D|0.002449528|89.81%
View h06400082-ib-ex-60-1795_s23 soft_filtered Y rs79788321
dbSNP Clinvar
21154603 1744.6 A C PASS 0/1 149 None None None None None None None None None None
View h06400082-ib-ex-60-1795_s23 soft_filtered Y rs17855271
dbSNP Clinvar
21154569 1275.6 A G PASS 0/1 150 None None None None None None None None None None
View h06400082-ib-ex-60-1795_s23 soft_filtered Y rs10465460
dbSNP Clinvar
21154466 767.6 T A PASS 0/1 127 None None None None None None None None None None
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