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 CHR:

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SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
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SHOW ONLY VARIANTS PRESENT AT HGMD

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EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES 		DBSNP FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN DBSNP 		ESP6500 FREQUENCY

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EXCLUDE VARIANTS WITHOUT SIFT SCORE 		POLYPHEN2 SCORE

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CADD

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EXCLUDE VARIANTS WITHOUT M-CAP SCORE
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+ Genes 3

Genes:
EGFR, KMT2C, PMS2,

+ Genes associated with diseases 3

Genes at Omim

EGFR, KMT2C, PMS2,
EGFR Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, 211980 (3)
{Nonsmall cell lung cancer, susceptibility to}, 211980 (3)
Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, 211980 (3)
?Inflammatory skin and bowel disease, neonatal, 2, 616069 (3)
KMT2C Kleefstra syndrome 2, 617768 (3)
PMS2 Colorectal cancer, hereditary nonpolyposis, type 4, 614337 (3)
Mismatch repair cancer syndrome, 276300 (3)

Genes at Clinical Genomics Database

EGFR, PMS2,
EGFR Acute myeloid leukemia, familial
Lung cancer, familial, susceptibilty to
Inflammatory skin and bowel disease, neonatal, 2
PMS2 Mismatch repair cancer syndrome
Colorectal cancer, hereditary nonpolyposis type 4

Genes at HGMD

Summary

Number of Variants: 20
Number of Genes: 3

Export to: CSV
  • Page 1 of 1

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 breast1 1 7 rs1140475
dbSNP Clinvar 		55266417 200.0 T C . 1/1 114 SYNONYMOUS_CODING LOW None 0.91673 0.91670 0.11095 None None None None None None EGFR|0.999639222|0.3%
View breast1 1 7 rs1050171
dbSNP Clinvar 		55249063 200.0 G A . 0/1 100 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.43271 0.43270 0.45756 None None None None None None EGFR|0.999639222|0.3%
View breast1 1 7 rs2227984
dbSNP Clinvar 		55238874 200.0 T A . 0/1 56 SYNONYMOUS_CODING LOW None 0.39038 0.39040 0.32247 None None None None None None EGFR|0.999639222|0.3%
View breast1 1 7 rs2227983
dbSNP Clinvar 		55229255 200.0 G A . 0/1 188 NON_SYNONYMOUS_CODING MODERATE None 0.29213 0.29210 0.20268 0.44 0.00 None None None None None None EGFR|0.999639222|0.3%
View breast1 1 7 rs2072454
dbSNP Clinvar 		55214348 200.0 C T . 0/1 156 SYNONYMOUS_CODING LOW None 0.47544 0.47540 0.48485 None None None None None None EGFR|0.999639222|0.3%

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 breast1 1 7 rs111493987
dbSNP Clinvar 		151935871 200.0 C A . 0/1 512 NON_SYNONYMOUS_CODING MODERATE None 0.28 1.00 None None None None None None KMT2C|0.088346598|53.58%
View breast1 1 7 rs112515611
dbSNP Clinvar 		151935866 200.0 G A . 0/1 519 NON_SYNONYMOUS_CODING MODERATE None 0.12 0.13 None None None None None None KMT2C|0.088346598|53.58%
View breast1 1 7 . 151935798 200.0 GA TG . 0/1 299 NON_SYNONYMOUS_CODING MODERATE None 0.01 0.80 None None None None None None KMT2C|0.088346598|53.58%
View breast1 1 7 rs60244562
dbSNP Clinvar 		151927067 200.0 T C . 0/1 414 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.99 None None None None None None KMT2C|0.088346598|53.58%
View breast1 1 7 rs77735469
dbSNP Clinvar 		151927025 200.0 A G . 0/1 299 NON_SYNONYMOUS_CODING MODERATE None 0.00 1.00 None None None None None None KMT2C|0.088346598|53.58%
View breast1 1 7 rs28522267
dbSNP Clinvar 		151927021 200.0 C A . 0/1 287 NON_SYNONYMOUS_CODING MODERATE None 0.00 1.00 None None None None None None KMT2C|0.088346598|53.58%
View breast1 1 7 rs13231116
dbSNP Clinvar 		151877127 200.0 G T . 0/1 163 NON_SYNONYMOUS_CODING MODERATE None 0.00779 0.00779 0.02030 0.32 0.00 None None None None None None KMT2C|0.088346598|53.58%
View breast1 1 7 rs10454320
dbSNP Clinvar 		151970856 200.0 T A . 0/1 1474 NON_SYNONYMOUS_CODING MODERATE None 0.12 0.47 None None None None None None KMT2C|0.088346598|53.58%
View breast1 1 7 rs4024453
dbSNP Clinvar 		151945204 200.0 G A . 0/1 229 NON_SYNONYMOUS_CODING MODERATE None 0.03 0.26 None None None None None None KMT2C|0.088346598|53.58%
View breast1 1 7 rs2537263
dbSNP Clinvar 		151945140 200.0 C T . 0/1 498 SYNONYMOUS_CODING LOW None None None None None None None KMT2C|0.088346598|53.58%
View breast1 1 7 rs150073007
dbSNP Clinvar 		151945071 200.0 G GT . 0/1 1090 FRAME_SHIFT+STOP_GAINED HIGH None None None None None None None KMT2C|0.088346598|53.58%
View breast1 1 7 rs2479172
dbSNP Clinvar 		151945007 200.0 C T . 0/1 321 NON_SYNONYMOUS_CODING MODERATE None 0.00 1.00 None None None None None None KMT2C|0.088346598|53.58%

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 breast1 1 7 rs1805319
dbSNP Clinvar 		6036980 200.0 G C . 1/1 202 SYNONYMOUS_CODING LOW None 0.83127 0.83130 0.17623 None None None None None None PMS2|0.061509857|59.43%
View breast1 1 7 rs1805321
dbSNP Clinvar 		6026988 200.0 G A . 0/1 285 NON_SYNONYMOUS_CODING MODERATE None 0.35823 0.35820 0.37383 0.43 0.00 None None None None None None PMS2|0.061509857|59.43%
View breast1 1 7 rs2228006
dbSNP Clinvar 		6026775 200.0 T C . 0/1 160 NON_SYNONYMOUS_CODING MODERATE None 0.88319 0.88320 0.12962 1.00 0.00 None None None None None None PMS2|0.061509857|59.43%
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