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 tsvc_variants_ionxpress_001 1 rs2251098
dbSNP Clinvar
3566706 512.41 G A PASS 1/1 58 MOTIF[MA0062.2:Gabp] MODIFIER None 0.70727 0.70730 None None None None None None WRAP73|0.036942374|66.8%
View tsvc_variants_ionxpress_001 1 rs12759775
dbSNP Clinvar
3713077 92.3834 G T PASS 0/1 31 MOTIF[MA0062.2:Gabp] MODIFIER None 0.04353 0.04353 0.05045 None None None None None None None
View tsvc_variants_ionxpress_001 17 rs6502330
dbSNP Clinvar
13972811 332.487 G A PASS 1/1 39 MOTIF[MA0062.2:Gabp] MODIFIER None 0.99561 0.99560 None None None None None None None
View tsvc_variants_ionxpress_001 14 rs17552038
dbSNP Clinvar
74416945 30.4393 G C PASS 0/1 31 MOTIF[MA0062.2:Gabp] LOW None 0.09764 0.09764 None None None None None None FAM161B|0.032647327|68.31%,COQ6|0.155475963|42.22%
View tsvc_variants_ionxpress_001 20 rs3746792
dbSNP Clinvar
389456 79.7552 C T PASS 0/1 49 MOTIF[MA0062.2:Gabp] LOW None 0.40415 0.40420 0.45403 None None None None None None RBCK1|0.095045325|52.09%
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