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: 9
Number of Genes: 0

Export to: CSV
  • Page 1 of 1
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_97.variant42 1 rs1220395
dbSNP Clinvar
9908269 2203.24 C T PASS 0/1 139 MOTIF[MA0093.1:USF1] LOW None 0.15775 0.15770 None None None None None None None
View combined sample_97.variant42 1 rs61703293
dbSNP Clinvar
27339466 404.34 C T PASS 0/1 21 MOTIF[MA0093.1:USF1] LOW None 0.01857 0.01857 None None None None None None None
View combined sample_97.variant42 9 rs4443759
dbSNP Clinvar
132388716 3099.05 T C PASS 1/1 118 MOTIF[MA0093.1:USF1] MODIFIER None 0.95088 0.95090 None None None None None None NTMT1|0.139033566|44.54%
View combined sample_97.variant42 22 rs132847
dbSNP Clinvar
45559631 390.13 C G PASS 0/1 6 MOTIF[MA0093.1:USF1] LOW None 0.57588 0.57590 None None None None None None None
View combined sample_97.variant42 19 rs4808621
dbSNP Clinvar
17414267 1068.02 C T PASS 0/1 76 MOTIF[MA0093.1:USF1] LOW None 0.30531 0.30530 None None None None None None ABHD8|0.012085184|79.18%,MRPL34|0.007545903|83.01%
View combined sample_97.variant42 5 rs397720891
dbSNP Clinvar
171763533 2263.17 G GT PASS 1/1 90 MOTIF[MA0093.1:USF1] LOW None 0.56110 0.56110 None None None None None None SH3PXD2B|0.062507541|59.2%
View combined sample_97.variant42 19 rs12979308
dbSNP Clinvar
1275987 1764.34 C G PASS 1/1 32 MOTIF[MA0093.1:USF1] LOW None 0.79892 0.79890 None None None None None None C19orf24|0.0008779|96.15%
View combined sample_97.variant42 19 rs3093132
dbSNP Clinvar
16004482 1297.05 G A PASS 0/1 70 MOTIF[MA0093.1:USF1] LOW None 0.03794 0.03794 None None None None None None CYP4F2|0.005649881|85.05%
View combined sample_97.variant42 20 rs744590
dbSNP Clinvar
61870075 789.32 C T PASS 1/1 72 MOTIF[MA0093.1:USF1] LOW None 0.44469 0.44470 None None None None None None BIRC7|0.003576281|87.65%
  • Page 1 of 1