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

MSH6,
MSH6 Colorectal cancer, hereditary nonpolyposis, type 5, 614350 (3)
Endometrial cancer, familial, 608089 (3)
Mismatch repair cancer syndrome, 276300 (3)

Genes at Clinical Genomics Database

MSH6,
MSH6 Mismatch repair cancer syndrome
Endometrial cancer
Colorectal cancer, hereditary nonpolyposis type 5

Genes at HGMD

Summary

Number of Variants: 3
Number of Genes: 1

Export to: CSV

MSH6

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 pc751_s1 2 rs1800935
dbSNP
48023115 1067.08 T C PASS 0/1 93 SYNONYMOUS_CODING LOW SILENT 0.13518 0.13520 0.25065 None None None None None None None
View pc751_s1 2 rs1800932
dbSNP
48018081 2134.25 A G PASS 0/1 158 SYNONYMOUS_CODING LOW SILENT 0.08666 0.08666 0.16523 None None None None None None None
View pc751_s1 2 rs1042820
dbSNP
48010558 84.6 C A SB 0/1 18 SYNONYMOUS_CODING LOW SILENT 0.06909 0.06909 0.11665 None None None None None None None