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

CD209, KMT2C, MSH2,
CD209 {Dengue fever, protection against}, 614371 (3)
{HIV type 1, susceptibility to}, 609423 (3)
{Mycobacterium tuberculosis, susceptibility to}, 607948 (3)
KMT2C Kleefstra syndrome 2, 617768 (3)
MSH2 Colorectal cancer, hereditary nonpolyposis, type 1, 120435 (3)
Mismatch repair cancer syndrome, 276300 (3)
Muir-Torre syndrome, 158320 (3)

Genes at Clinical Genomics Database

MSH2,
MSH2 Mismatch repair cancer syndrome
Endometrial cancer
Muir-Torre syndrome
Colorectal cancer, hereditary nonpolyposis, type 1

Genes at HGMD

Summary

Number of Variants: 5
Number of Genes: 5

Export to: CSV
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CD209

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 allfamilies AWK 19 . 7810436 15.73 T TC PASS 0/1 26 FRAME_SHIFT+STOP_GAINED HIGH None None None None None None None CD209|0.001091025|94.97%

KMT2C

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 allfamilies AWK 7 rs150073007
dbSNP Clinvar
151945071 246.736 G GT PASS 0/1 197 FRAME_SHIFT+STOP_GAINED HIGH None None None None None None None KMT2C|0.088346598|53.58%

MROH8

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 allfamilies AWK 20 . 35807790 509.996 G GC... PASS 0/1 66 FRAME_SHIFT+STOP_GAINED HIGH None 0.32368 None None None None None None MROH8|0.030021625|69.39%,RPN2|0.272886189|29.64%

MSH2

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 allfamilies AWK 2 . 47630526 33.73 T TG PASS 0/1 110 FRAME_SHIFT+STOP_GAINED HIGH None None None None None None None MSH2|0.976967025|1.57%

WWTR1

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 allfamilies AWK 3 rs112399999
dbSNP Clinvar
149238595 568.291 C CTTAA PASS 0/1 164 FRAME_SHIFT+STOP_GAINED HIGH None 0.11442 0.11440 0.10719 None None None None None None WWTR1|0.656667266|9.85%
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