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 at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

Number of Variants: 9
Number of Genes: 1

Export to: CSV
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KRT32

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 fpd-aix-mes-312-12 17 rs2604953
dbSNP Clinvar
39616430 24544.0 G T PASS 0/1 102 NON_SYNONYMOUS_CODING MODERATE None 0.81949 0.81950 0.11144 0.09 0.06 None None None None None None KRT32|0.027899063|70.47%
View fpd-aix-mes-312-12 17 rs2604954
dbSNP Clinvar
39619093 15754.0 G A PASS 0/1 59 SYNONYMOUS_CODING LOW None 0.61542 0.61540 0.37198 None None None None None None KRT32|0.027899063|70.47%
View fpd-aix-mes-312-12 17 rs2604955
dbSNP Clinvar
39619094 15269.0 T C PASS 0/1 60 NON_SYNONYMOUS_CODING MODERATE None 0.61522 0.61520 0.37152 1.00 0.00 None None None None None None KRT32|0.027899063|70.47%
View fpd-aix-mes-312-12 17 rs2071563
dbSNP Clinvar
39619115 13688.0 G A PASS 0/1 68 NON_SYNONYMOUS_CODING MODERATE None 0.36881 0.36880 0.38713 0.01 1.00 None None None None None None KRT32|0.027899063|70.47%
View fpd-aix-mes-312-12 17 rs11078993
dbSNP Clinvar
39619193 461.0 C T PASS 0/1 80 NON_SYNONYMOUS_CODING MODERATE None 0.11921 0.11920 0.05290 0.01 1.00 None None None None None None KRT32|0.027899063|70.47%
View fpd-aix-mes-312-12 17 rs2857257
dbSNP Clinvar
39619219 9349.0 G A PASS 0/1 68 SYNONYMOUS_CODING LOW None 0.61522 0.61520 0.36383 None None None None None None KRT32|0.027899063|70.47%
View fpd-aix-mes-312-12 17 rs12948056
dbSNP Clinvar
39620399 4750.0 C T PASS 0/1 38 SYNONYMOUS_CODING LOW None 0.30411 0.30410 0.31632 None None None None None None KRT32|0.027899063|70.47%
View fpd-aix-mes-312-12 17 rs2071561
dbSNP Clinvar
39622068 3279.0 G T PASS 0/1 50 NON_SYNONYMOUS_CODING MODERATE None 0.49960 0.49960 0.42719 0.00 0.98 None None None None None None KRT32|0.027899063|70.47%
View fpd-aix-mes-312-12 17 rs3744786
dbSNP Clinvar
39623363 2852.0 T C PASS 0/1 31 NON_SYNONYMOUS_CODING MODERATE None 0.32548 0.32550 0.28195 0.55 0.00 None None None None None None KRT32|0.027899063|70.47%
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