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: 13
Number of Genes: 0

Export to: CSV
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 X . 153744813 1089.34 G A PASS 1/1 9 MOTIF[MA0062.2:Gabp] MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 22 . 37374317 71719.77 A G PASS 1/1 134 MOTIF[MA0062.2:Gabp] LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 19 . 5720319 89.71 T C PASS 0/1 8 MOTIF[MA0062.2:Gabp] MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 16 . 1662385 4434.36 T G PASS 0/1 35 MOTIF[MA0062.2:Gabp] LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 15 . 90234211 1240.96 A G PASS 1/1 27 MOTIF[MA0062.2:Gabp] LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 12 . 21654753 63512.08 C G PASS 1/1 18 MOTIF[MA0062.2:Gabp] MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 11 rs71487219
dbSNP
207400 2600.79 A G PASS 1/1 12 MOTIF[MA0062.2:Gabp] MODIFIER 0.59265 0.59270 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 9 . 137030054 614.22 AC A PASS 1/1 15 MOTIF[MA0062.2:Gabp] LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 9 . 19380241 11644.36 A T PASS 0/1 142 MOTIF[MA0062.2:Gabp] LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 92077883 39069.88 C T PASS 0/1 214 MOTIF[MA0062.2:Gabp] MODIFIER None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 4 . 185458745 92891.77 G C PASS 0/1 58 MOTIF[MA0062.2:Gabp] LOW -1.93 None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 1 . 226891254 24407.22 T C,G PASS 1/1 25 MOTIF[MA0062.2:Gabp] LOW None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 1 . 154946604 49766.34 C T PASS 1/1 76 MOTIF[MA0062.2:Gabp] LOW 0.66 None None None None None None None