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: 5
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_93.variant38 12 rs9165,rs568533359
dbSNP Clinvar
122219787 3693.6 T C,TG PASS 1/1 113 MOTIF[MA0154.1:EBF] LOW None 0.02236 0.02236 None None None None None None TMEM120B|0.205561221|36.06%,RHOF|0.097580213|51.6%
View combined sample_93.variant38 16 rs9936468
dbSNP Clinvar
29705854 359.74 C T PASS 1/1 10 MOTIF[MA0154.1:EBF] MODIFIER None 1.00000 1.00000 None None None None None None QPRT|0.028149843|70.35%
View combined sample_93.variant38 7 rs71020521
dbSNP Clinvar
887835 175.39 G GA PASS 0/1 9 MOTIF[MA0154.1:EBF] LOW None 0.41274 0.41270 None None None None None None SUN1|0.007269788|83.24%
View combined sample_93.variant38 6 rs9273443
dbSNP Clinvar
32627600 1845.51 G T PASS 0/1 69 MOTIF[MA0154.1:EBF] LOW None 0.54253 0.54250 None None None None None None HLA-DQB1|0.132406558|45.55%
View combined sample_93.variant38 7 rs200258005,rs369975126
dbSNP Clinvar
100661013 270.79 CG... CG... PASS 0/1 16 MOTIF[MA0154.1:EBF] LOW None None None None None None None MUC12|0.000890812|96.07%
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