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

EGFR, MET, PMS2,
EGFR {Nonsmall cell lung cancer, susceptibility to}, 211980 (3)
Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, 211980 (3)
Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, 211980 (3)
?Inflammatory skin and bowel disease, neonatal, 2, 616069 (3)
MET {Osteofibrous dysplasia, susceptibility to}, 607278 (3)
Renal cell carcinoma, papillary, 1, familial and somatic, 605074 (3)
Hepatocellular carcinoma, childhood type, somatic, 114550 (3)
?Deafness, autosomal recessive 97, 616705 (3)
PMS2 Mismatch repair cancer syndrome, 276300 (3)
Colorectal cancer, hereditary nonpolyposis, type 4, 614337 (3)

Genes at Clinical Genomics Database

EGFR, MET, PMS2,
EGFR Inflammatory skin and bowel disease, neonatal, 2
Lung cancer, familial, susceptibilty to
Acute myeloid leukemia, familial
MET Deafness, autosomal recessive 97
Renal cell carcinoma, papillary
PMS2 Mismatch repair cancer syndrome
Colorectal cancer, hereditary nonpolyposis type 4

Genes at HGMD

Summary

Number of Variants: 17
Number of Genes: 3

Export to: CSV

EGFR

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 7 rs2227983
dbSNP
55229255 811.05 G A PASS 0/1 75 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.29213 0.29210 0.20268 0.44 0.00 None None None None None None None
View pc751_s1 7 rs1140475
dbSNP
55266417 2758.95 T C PASS 1/1 103 SYNONYMOUS_CODING LOW SILENT 0.91673 0.91670 0.11095 None None None None None None None
View pc751_s1 7 rs1050171
dbSNP
55249063 1043.31 G A PASS 0/1 94 SYNONYMOUS_CODING LOW SILENT 0.43271 0.43270 0.45756 None None None None None None None
View pc751_s1 7 rs2227984
dbSNP
55238874 1045.45 T A PASS 0/1 108 SYNONYMOUS_CODING LOW SILENT 0.39038 0.39040 0.32247 None None None None None None None
View pc751_s1 7 rs2072454
dbSNP
55214348 625.1 C T PASS 0/1 72 SYNONYMOUS_CODING LOW SILENT 0.47544 0.47540 0.48485 None None None None None None None

MET

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 7 rs41737
dbSNP
116436097 445.47 G A PASS 0/1 44 SYNONYMOUS_CODING LOW SILENT 0.35463 0.35460 0.32105 None None None None None None None
View pc751_s1 7 rs2023748
dbSNP
116436022 552.16 G A PASS 0/1 46 SYNONYMOUS_CODING LOW SILENT 0.35383 0.35380 0.32250 None None None None None None None
View pc751_s1 7 rs41736
dbSNP
116435768 1109.5 C T PASS 0/1 84 SYNONYMOUS_CODING LOW SILENT 0.35224 0.35220 0.32350 None None None None None None None
View pc751_s1 7 rs13223756
dbSNP
116397572 610.99 A G PASS 0/1 47 SYNONYMOUS_CODING LOW SILENT 0.18790 0.18790 0.16871 None None None None None None None

PMS2

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 7 rs1805319
dbSNP
6036980 2195.09 G C PASS 0/1 157 SYNONYMOUS_CODING LOW SILENT 0.83127 0.83130 0.17623 None None None None None None None
View pc751_s1 7 rs1805323
dbSNP
6026942 420.38 G T PASS 0/1 48 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.11202 0.11200 0.03352 0.92 0.01 None None None None None None None
View pc751_s1 7 rs2228006
dbSNP
6026775 2653.54 T C PASS 0/1 179 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.88319 0.88320 0.12962 1.00 0.00 None None None None None None None
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 7 rs11978267
dbSNP
50466304 1370.64 A G PASS 0/1 144 None None None 0.22664 0.22660 None None None None None None None
View pc751_s1 7 rs7808249
dbSNP
86983715 601.69 A G PASS 0/1 81 None None None 0.67452 0.67450 0.34479 None None None None None None None
View pc751_s1 7 rs4487645
dbSNP
21938240 1202.71 C A PASS 0/1 109 None None None 0.00919 0.19930 None None None None None None None
View pc751_s1 7 rs6465657
dbSNP
97816327 242.72 C T PASS 0/1 31 None None None 0.22284 0.22280 0.40328 None None None None None None None
View pc751_s1 7 rs4132601
dbSNP
50470604 615.68 T G PASS 0/1 67 None None None 0.22145 0.22140 None None None None None None None