Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BRCA-EU 4 9216954 9216954 single base substitution G C upstream_gene_variant ESCA-CN 4 9221454 9221454 insertion of <=200bp - CA upstream_gene_variant LAML-KR 4 9216954 9216954 single base substitution G C upstream_gene_variant LAML-KR 4 9217150 9217150 single base substitution A T upstream_gene_variant LAML-KR 4 9217151 9217151 single base substitution C G upstream_gene_variant LAML-KR 4 9217567 9217567 single base substitution C A upstream_gene_variant LAML-KR 4 9218059 9218059 single base substitution C A upstream_gene_variant LAML-KR 4 9218392 9218392 single base substitution A G upstream_gene_variant LAML-KR 4 9218814 9218814 single base substitution C T upstream_gene_variant LAML-KR 4 9218849 9218849 single base substitution T C upstream_gene_variant LAML-KR 4 9219022 9219022 single base substitution T C upstream_gene_variant LAML-KR 4 9219287 9219287 single base substitution T A upstream_gene_variant LAML-KR 4 9219512 9219512 single base substitution C A upstream_gene_variant LAML-KR 4 9220227 9220227 single base substitution T C upstream_gene_variant LAML-KR 4 9220675 9220675 single base substitution T C upstream_gene_variant LAML-KR 4 9220678 9220678 single base substitution G A upstream_gene_variant LAML-KR 4 9221093 9221093 single base substitution C G upstream_gene_variant LAML-KR 4 9221153 9221153 single base substitution G C upstream_gene_variant LAML-KR 4 9221287 9221287 single base substitution A G upstream_gene_variant LAML-KR 4 9221306 9221306 single base substitution T C upstream_gene_variant LAML-KR 4 9221349 9221349 single base substitution G T upstream_gene_variant LAML-KR 4 9221404 9221404 single base substitution C A upstream_gene_variant LAML-KR 4 9221421 9221421 single base substitution G A upstream_gene_variant LAML-KR 4 9221426 9221426 single base substitution C A upstream_gene_variant LAML-KR 4 9221432 9221432 single base substitution A C upstream_gene_variant LAML-KR 4 9221433 9221433 single base substitution C A upstream_gene_variant LAML-KR 4 9221446 9221446 single base substitution G A upstream_gene_variant LAML-KR 4 9221453 9221453 single base substitution A C upstream_gene_variant LAML-KR 4 9221600 9221600 single base substitution C G upstream_gene_variant LAML-KR 4 9221627 9221627 single base substitution C A upstream_gene_variant LAML-KR 4 9221665 9221665 single base substitution C G upstream_gene_variant LAML-KR 4 9221701 9221701 single base substitution G C upstream_gene_variant LAML-KR 4 9222036 9222036 single base substitution T C synonymous_variant D53D 159T>C LAML-KR 4 9222968 9222968 single base substitution G A missense_variant S364N 1091G>A LAML-KR 4 9223053 9223053 single base substitution A T missense_variant R392S 1176A>T LAML-KR 4 9223167 9223167 single base substitution G C missense_variant Q430H 1290G>C LAML-KR 4 9223342 9223342 single base substitution C A missense_variant L489I 1465C>A LAML-KR 4 9223561 9223561 single base substitution C T downstream_gene_variant LAML-KR 4 9224975 9224975 single base substitution T C downstream_gene_variant LAML-KR 4 9225015 9225015 single base substitution T C downstream_gene_variant LAML-KR 4 9225112 9225112 single base substitution T C downstream_gene_variant LAML-KR 4 9225248 9225248 single base substitution A G downstream_gene_variant LAML-KR 4 9225622 9225622 single base substitution T C downstream_gene_variant LAML-KR 4 9225930 9225930 single base substitution C T downstream_gene_variant LAML-KR 4 9226006 9226006 single base substitution C T downstream_gene_variant LAML-KR 4 9226271 9226271 single base substitution C T downstream_gene_variant LAML-KR 4 9226343 9226343 single base substitution C G downstream_gene_variant LAML-KR 4 9226630 9226630 single base substitution G C downstream_gene_variant LAML-KR 4 9226696 9226696 single base substitution C A downstream_gene_variant LAML-KR 4 9227065 9227065 single base substitution A T downstream_gene_variant LAML-KR 4 9228305 9228305 single base substitution C T downstream_gene_variant LICA-FR 4 9217106 9217106 single base substitution C G upstream_gene_variant LICA-FR 4 9217161 9217161 single base substitution G T upstream_gene_variant LUSC-KR 4 9216954 9216954 single base substitution G C upstream_gene_variant LUSC-KR 4 9217119 9217119 single base substitution G T upstream_gene_variant LUSC-KR 4 9217151 9217151 single base substitution C G upstream_gene_variant LUSC-KR 4 9217197 9217197 single base substitution T C upstream_gene_variant LUSC-KR 4 9217205 9217205 single base substitution C A upstream_gene_variant LUSC-KR 4 9217289 9217289 single base substitution T C upstream_gene_variant LUSC-KR 4 9217685 9217685 single base substitution T G upstream_gene_variant LUSC-KR 4 9218364 9218364 single base substitution C T upstream_gene_variant LUSC-KR 4 9218366 9218366 single base substitution C T upstream_gene_variant LUSC-KR 4 9218590 9218590 single base substitution T A upstream_gene_variant LUSC-KR 4 9218686 9218686 single base substitution A G upstream_gene_variant LUSC-KR 4 9219086 9219086 single base substitution C A upstream_gene_variant LUSC-KR 4 9219129 9219129 single base substitution C T upstream_gene_variant LUSC-KR 4 9221106 9221106 single base substitution T A upstream_gene_variant LUSC-KR 4 9221421 9221421 single base substitution G A upstream_gene_variant LUSC-KR 4 9221423 9221423 single base substitution G A upstream_gene_variant LUSC-KR 4 9221509 9221509 single base substitution T A upstream_gene_variant LUSC-KR 4 9221565 9221565 single base substitution T C upstream_gene_variant LUSC-KR 4 9221600 9221600 single base substitution C G upstream_gene_variant LUSC-KR 4 9222036 9222036 single base substitution T C synonymous_variant D53D 159T>C LUSC-KR 4 9222822 9222822 single base substitution C T synonymous_variant L315L 945C>T LUSC-KR 4 9222956 9222956 single base substitution C T missense_variant T360I 1079C>T LUSC-KR 4 9223596 9223596 single base substitution T C downstream_gene_variant LUSC-KR 4 9226067 9226067 single base substitution G C downstream_gene_variant LUSC-KR 4 9226082 9226082 single base substitution C G downstream_gene_variant LUSC-KR 4 9226211 9226211 single base substitution G T downstream_gene_variant LUSC-KR 4 9226232 9226232 single base substitution G A downstream_gene_variant LUSC-KR 4 9226271 9226271 single base substitution C T downstream_gene_variant LUSC-KR 4 9226370 9226370 single base substitution C A downstream_gene_variant LUSC-KR 4 9226567 9226567 single base substitution T C downstream_gene_variant LUSC-KR 4 9226593 9226593 single base substitution C A downstream_gene_variant LUSC-KR 4 9227612 9227612 single base substitution C T downstream_gene_variant LUSC-KR 4 9227637 9227637 single base substitution T C downstream_gene_variant LUSC-KR 4 9227712 9227712 single base substitution G C downstream_gene_variant LUSC-KR 4 9227855 9227855 single base substitution C T downstream_gene_variant LUSC-KR 4 9227911 9227911 single base substitution G C downstream_gene_variant LUSC-KR 4 9228081 9228081 single base substitution T A downstream_gene_variant LUSC-KR 4 9228305 9228305 single base substitution C T downstream_gene_variant MELA-AU 4 9225456 9225456 single base substitution C T downstream_gene_variant SKCA-BR 4 9218121 9218121 single base substitution C T upstream_gene_variant

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.741128 4p16.1 Hs.741136 4p16.1