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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
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+ Genes

Genes:

+ Genes associated with diseases

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 8
Number of Genes: 0

Export to: CSV
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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 combined sample_60.variant22 5 rs397720891
dbSNP Clinvar 		171763533 2263.17 G GT PASS 0/1 70 MOTIF[MA0093.1:USF1] LOW None 0.56110 0.56110 None None None None None None SH3PXD2B|0.062507541|59.2%
View combined sample_60.variant22 15 rs59373601
dbSNP Clinvar 		20450376 7305.19 G A PASS 0/1 842 MOTIF[MA0093.1:USF1] LOW None None None None None None None None
View combined sample_60.variant22 10 rs11813595
dbSNP Clinvar 		73061344 715.61 G C PASS 0/1 67 MOTIF[MA0093.1:USF1] LOW None 0.09585 0.09585 None None None None None None UNC5B|0.295022463|28.03%
View combined sample_60.variant22 4 rs558296322
dbSNP Clinvar 		128651495 1727.91 T G PASS 0/1 113 MOTIF[MA0093.1:USF1] MODIFIER None 0.00040 0.00040 None None None None None None None
View combined sample_60.variant22 9 rs4443759
dbSNP Clinvar 		132388716 3099.05 T C PASS 1/1 112 MOTIF[MA0093.1:USF1] MODIFIER None 0.95088 0.95090 None None None None None None NTMT1|0.139033566|44.54%
View combined sample_60.variant22 12 rs2280615
dbSNP Clinvar 		103310979 1343.52 T G PASS 0/1 129 MOTIF[MA0093.1:USF1] MODIFIER None 0.12600 0.12600 0.15856 None None None None None None PAH|0.397123463|20.97%
View combined sample_60.variant22 20 rs744590
dbSNP Clinvar 		61870075 789.32 C T PASS 0/1 100 MOTIF[MA0093.1:USF1] LOW None 0.44469 0.44470 None None None None None None BIRC7|0.003576281|87.65%
View combined sample_60.variant22 22 rs132847
dbSNP Clinvar 		45559631 390.13 C G PASS 0/1 18 MOTIF[MA0093.1:USF1] LOW None 0.57588 0.57590 None None None None None None None
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