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:

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 7
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_38.variant2 3 rs138334091,rs772363070,rs377470719
dbSNP Clinvar
171528283 1269.83 GGA G PASS 0/1 89 TRANSCRIPT MODIFIER None 0.14097 0.14100 None None None None None None PLD1|0.2478769|31.74%
View combined sample_38.variant2 5 rs765129917
dbSNP Clinvar
179780382 1202.63 AG... AG... PASS 1/1 33 TRANSCRIPT MODIFIER None None None None None None None GFPT2|0.124871701|46.65%
View combined sample_38.variant2 13 rs552034804,rs60533993
dbSNP Clinvar
92050925 668.65 CG... C PASS 1/1 86 TRANSCRIPT MODIFIER None 0.61941 0.61940 None None None None None None None
View combined sample_38.variant2 14 rs4007475
dbSNP Clinvar
35515606 7862.81 TGG T PASS 0/1 190 TRANSCRIPT MODIFIER None None None None None None None FAM177A1|0.149130642|43.12%
View combined sample_38.variant2 10 rs764357164
dbSNP Clinvar
6622236 279.57 AC... AC... PASS 1/1 6 TRANSCRIPT MODIFIER None None None None None None None PRKCQ|0.198764391|36.85%
View combined sample_38.variant2 10 rs200928741,rs61029493
dbSNP Clinvar
129924642 179.15 TC... T PASS 1/1 2 TRANSCRIPT MODIFIER None 0.56609 0.56610 None None None None None None MKI67|0.001491806|92.81%
View combined sample_38.variant2 13 rs201040149,rs71099859
dbSNP Clinvar
44453945 392.77 GG... GG... PASS 2/2 43 TRANSCRIPT MODIFIER None 0.12879 0.12880 None None None None None None LACC1|0.150502517|42.93%
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