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 9240634 9240634 single base substitution G T upstream_gene_variant BRCA-EU 4 9240635 9240635 single base substitution G T upstream_gene_variant BRCA-EU 4 9249652 9249652 single base substitution C T downstream_gene_variant BRCA-EU 4 9249705 9249705 single base substitution G T downstream_gene_variant BRCA-EU 4 9249724 9249724 single base substitution T G downstream_gene_variant BRCA-EU 4 9249958 9249958 single base substitution T A downstream_gene_variant BRCA-FR 4 9240857 9240857 single base substitution T G upstream_gene_variant BRCA-FR 4 9249518 9249518 single base substitution C T downstream_gene_variant BRCA-FR 4 9249619 9249619 single base substitution A G downstream_gene_variant BRCA-FR 4 9249682 9249682 single base substitution G T downstream_gene_variant BRCA-FR 4 9249733 9249733 single base substitution A T downstream_gene_variant BRCA-FR 4 9250050 9250050 single base substitution C T downstream_gene_variant BRCA-FR 4 9250095 9250095 single base substitution T C downstream_gene_variant BRCA-UK 4 9250386 9250386 single base substitution G T downstream_gene_variant COCA-CN 4 9245215 9245215 single base substitution G T upstream_gene_variant COCA-CN 4 9249568 9249568 single base substitution C G downstream_gene_variant COCA-CN 4 9249789 9249789 single base substitution C A downstream_gene_variant COCA-CN 4 9250376 9250376 single base substitution C G downstream_gene_variant KIRC-US 4 9241928 9241928 single base substitution G C upstream_gene_variant KIRC-US 4 9250368 9250368 single base substitution T C downstream_gene_variant LAML-KR 4 9240631 9240631 single base substitution C A upstream_gene_variant LAML-KR 4 9240649 9240649 single base substitution A C upstream_gene_variant LAML-KR 4 9240827 9240827 single base substitution C A upstream_gene_variant LAML-KR 4 9240876 9240876 single base substitution C G upstream_gene_variant LAML-KR 4 9240922 9240922 single base substitution T C upstream_gene_variant LAML-KR 4 9240930 9240930 single base substitution A C upstream_gene_variant LAML-KR 4 9241243 9241243 single base substitution G A upstream_gene_variant LAML-KR 4 9241299 9241299 single base substitution A T upstream_gene_variant LAML-KR 4 9241338 9241338 single base substitution C T upstream_gene_variant LAML-KR 4 9242089 9242089 single base substitution C G upstream_gene_variant LAML-KR 4 9242089 9242089 single base substitution C T upstream_gene_variant LAML-KR 4 9242109 9242109 single base substitution C A upstream_gene_variant LAML-KR 4 9242113 9242113 single base substitution T G upstream_gene_variant LAML-KR 4 9242334 9242334 single base substitution C A upstream_gene_variant LAML-KR 4 9242539 9242539 single base substitution C T upstream_gene_variant LAML-KR 4 9242811 9242811 single base substitution C A upstream_gene_variant LAML-KR 4 9242854 9242854 single base substitution C T upstream_gene_variant LAML-KR 4 9242867 9242867 single base substitution T C upstream_gene_variant LAML-KR 4 9243008 9243008 single base substitution T C upstream_gene_variant LAML-KR 4 9243095 9243095 single base substitution T A upstream_gene_variant LAML-KR 4 9243224 9243224 single base substitution T G upstream_gene_variant LAML-KR 4 9243795 9243795 single base substitution G T upstream_gene_variant LAML-KR 4 9243893 9243893 single base substitution A G upstream_gene_variant LAML-KR 4 9244216 9244216 single base substitution G C upstream_gene_variant LAML-KR 4 9244240 9244240 single base substitution T G upstream_gene_variant LAML-KR 4 9244630 9244630 single base substitution A C upstream_gene_variant LAML-KR 4 9244819 9244819 single base substitution C G upstream_gene_variant LAML-KR 4 9244879 9244879 single base substitution G C upstream_gene_variant LAML-KR 4 9245032 9245032 single base substitution T C upstream_gene_variant LAML-KR 4 9245147 9245147 single base substitution G A upstream_gene_variant LAML-KR 4 9245148 9245148 single base substitution C T upstream_gene_variant LAML-KR 4 9245149 9245149 single base substitution G A upstream_gene_variant LAML-KR 4 9245158 9245158 single base substitution A C upstream_gene_variant LAML-KR 4 9245193 9245193 single base substitution C A upstream_gene_variant LAML-KR 4 9245354 9245354 single base substitution T A upstream_gene_variant LAML-KR 4 9245427 9245427 single base substitution G C upstream_gene_variant LAML-KR 4 9245763 9245763 single base substitution T C synonymous_variant D53D 159T>C LAML-KR 4 9245855 9245855 single base substitution A T missense_variant N84I 251A>T LAML-KR 4 9246838 9246838 single base substitution C T missense_variant H412Y 1234C>T LAML-KR 4 9246858 9246858 single base substitution C A synonymous_variant P418P 1254C>A LAML-KR 4 9246862 9246862 single base substitution T G missense_variant L420V 1258T>G LAML-KR 4 9247288 9247288 single base substitution C T downstream_gene_variant LAML-KR 4 9247688 9247688 single base substitution A G downstream_gene_variant LAML-KR 4 9248102 9248102 single base substitution G T downstream_gene_variant LAML-KR 4 9248599 9248599 single base substitution G T downstream_gene_variant LAML-KR 4 9249020 9249020 single base substitution G C downstream_gene_variant LAML-KR 4 9249142 9249142 single base substitution G A downstream_gene_variant LAML-KR 4 9249173 9249173 single base substitution G C downstream_gene_variant LAML-KR 4 9249241 9249241 single base substitution C T downstream_gene_variant LAML-KR 4 9249274 9249274 single base substitution A G downstream_gene_variant LAML-KR 4 9249298 9249298 single base substitution T C downstream_gene_variant LAML-KR 4 9249310 9249310 single base substitution C G downstream_gene_variant LAML-KR 4 9249568 9249568 single base substitution C G downstream_gene_variant LAML-KR 4 9249748 9249748 single base substitution A G downstream_gene_variant LAML-KR 4 9249789 9249789 single base substitution C A downstream_gene_variant LAML-KR 4 9249879 9249879 single base substitution A C downstream_gene_variant LAML-KR 4 9249898 9249898 single base substitution G A downstream_gene_variant LAML-KR 4 9249921 9249921 single base substitution G A downstream_gene_variant LAML-KR 4 9249986 9249986 single base substitution T A downstream_gene_variant LAML-KR 4 9250053 9250053 single base substitution A G downstream_gene_variant LAML-KR 4 9250077 9250077 single base substitution C G downstream_gene_variant LAML-KR 4 9250104 9250104 single base substitution C A downstream_gene_variant LAML-KR 4 9250181 9250181 single base substitution T C downstream_gene_variant LAML-KR 4 9250210 9250210 single base substitution T G downstream_gene_variant LAML-KR 4 9250238 9250238 single base substitution A T downstream_gene_variant LAML-KR 4 9250430 9250430 single base substitution C A downstream_gene_variant LAML-KR 4 9250606 9250606 single base substitution A T downstream_gene_variant LAML-KR 4 9250640 9250640 single base substitution G A downstream_gene_variant LAML-KR 4 9250903 9250903 single base substitution T C downstream_gene_variant LAML-KR 4 9251284 9251284 single base substitution C A downstream_gene_variant LAML-KR 4 9251589 9251589 single base substitution C T downstream_gene_variant LAML-KR 4 9252039 9252039 single base substitution C T downstream_gene_variant LAML-KR 4 9252111 9252111 single base substitution G A downstream_gene_variant LAML-KR 4 9252117 9252117 single base substitution A G downstream_gene_variant LICA-FR 4 9240643 9240643 single base substitution C A upstream_gene_variant LICA-FR 4 9245124 9245124 single base substitution C T upstream_gene_variant LICA-FR 4 9245209 9245209 single base substitution C G upstream_gene_variant LICA-FR 4 9245215 9245215 single base substitution G T upstream_gene_variant LICA-FR 4 9245400 9245400 single base substitution T C upstream_gene_variant LICA-FR 4 9249517 9249517 single base substitution A C downstream_gene_variant LICA-FR 4 9249581 9249581 single base substitution T A downstream_gene_variant LICA-FR 4 9249691 9249691 single base substitution T C downstream_gene_variant LICA-FR 4 9249750 9249750 single base substitution G A downstream_gene_variant LICA-FR 4 9249816 9249816 single base substitution T C downstream_gene_variant LICA-FR 4 9249824 9249824 single base substitution G T downstream_gene_variant LICA-FR 4 9250053 9250053 single base substitution A G downstream_gene_variant LICA-FR 4 9250102 9250102 single base substitution G A downstream_gene_variant LICA-FR 4 9250257 9250257 single base substitution C A downstream_gene_variant LICA-FR 4 9250386 9250386 single base substitution G T downstream_gene_variant LICA-FR 4 9250437 9250437 single base substitution G T downstream_gene_variant LIRI-JP 4 9250257 9250257 single base substitution C A downstream_gene_variant LIRI-JP 4 9250274 9250274 single base substitution G A downstream_gene_variant LUSC-KR 4 9240649 9240649 single base substitution A C upstream_gene_variant LUSC-KR 4 9240827 9240827 single base substitution C A upstream_gene_variant LUSC-KR 4 9240882 9240882 single base substitution A T upstream_gene_variant LUSC-KR 4 9241014 9241014 single base substitution T C upstream_gene_variant LUSC-KR 4 9241668 9241668 single base substitution C T upstream_gene_variant LUSC-KR 4 9241824 9241824 single base substitution G T upstream_gene_variant LUSC-KR 4 9242089 9242089 single base substitution C T upstream_gene_variant LUSC-KR 4 9242091 9242091 single base substitution C T upstream_gene_variant LUSC-KR 4 9242109 9242109 single base substitution C A upstream_gene_variant LUSC-KR 4 9242113 9242113 single base substitution T G upstream_gene_variant LUSC-KR 4 9242213 9242213 single base substitution G A upstream_gene_variant LUSC-KR 4 9242539 9242539 single base substitution C T upstream_gene_variant LUSC-KR 4 9242574 9242574 single base substitution T C upstream_gene_variant LUSC-KR 4 9242655 9242655 single base substitution G C upstream_gene_variant LUSC-KR 4 9245013 9245013 single base substitution A G upstream_gene_variant LUSC-KR 4 9245067 9245067 single base substitution T C upstream_gene_variant LUSC-KR 4 9245149 9245149 single base substitution G A upstream_gene_variant LUSC-KR 4 9245215 9245215 single base substitution G T upstream_gene_variant LUSC-KR 4 9245256 9245256 single base substitution G C upstream_gene_variant LUSC-KR 4 9245326 9245326 single base substitution C G upstream_gene_variant LUSC-KR 4 9245353 9245353 single base substitution C A upstream_gene_variant LUSC-KR 4 9245354 9245354 single base substitution T A upstream_gene_variant LUSC-KR 4 9245361 9245361 single base substitution G C upstream_gene_variant LUSC-KR 4 9245370 9245370 single base substitution C T upstream_gene_variant LUSC-KR 4 9245380 9245380 single base substitution A C upstream_gene_variant LUSC-KR 4 9245427 9245427 single base substitution G C upstream_gene_variant LUSC-KR 4 9245550 9245550 single base substitution T C upstream_gene_variant LUSC-KR 4 9245568 9245568 single base substitution C A upstream_gene_variant LUSC-KR 4 9245631 9245631 single base substitution A T synonymous_variant G9G 27A>T LUSC-KR 4 9245671 9245671 single base substitution T G missense_variant S23A 67T>G LUSC-KR 4 9245743 9245743 single base substitution A T missense_variant T47S 139A>T LUSC-KR 4 9245763 9245763 single base substitution T C synonymous_variant D53D 159T>C LUSC-KR 4 9246222 9246222 single base substitution G C missense_variant K206N 618G>C LUSC-KR 4 9246554 9246554 single base substitution A G missense_variant Y317C 950A>G LUSC-KR 4 9246573 9246573 single base substitution G T synonymous_variant L323L 969G>T LUSC-KR 4 9246595 9246595 single base substitution C T missense_variant H331Y 991C>T LUSC-KR 4 9246838 9246838 single base substitution C T missense_variant H412Y 1234C>T LUSC-KR 4 9246840 9246840 single base substitution C T synonymous_variant H412H 1236C>T LUSC-KR 4 9247083 9247083 single base substitution C A synonymous_variant T493T 1479C>A LUSC-KR 4 9247404 9247404 single base substitution G C downstream_gene_variant LUSC-KR 4 9249142 9249142 single base substitution G A downstream_gene_variant LUSC-KR 4 9249233 9249233 single base substitution C T downstream_gene_variant LUSC-KR 4 9249290 9249290 single base substitution T A downstream_gene_variant LUSC-KR 4 9249397 9249397 single base substitution C T downstream_gene_variant LUSC-KR 4 9249427 9249427 single base substitution G A downstream_gene_variant LUSC-KR 4 9249554 9249554 single base substitution T G downstream_gene_variant LUSC-KR 4 9249581 9249581 single base substitution T A downstream_gene_variant LUSC-KR 4 9249610 9249610 single base substitution C G downstream_gene_variant LUSC-KR 4 9249800 9249800 single base substitution C A downstream_gene_variant LUSC-KR 4 9249879 9249879 single base substitution A C downstream_gene_variant LUSC-KR 4 9249906 9249906 single base substitution C A downstream_gene_variant LUSC-KR 4 9249921 9249921 single base substitution G A downstream_gene_variant LUSC-KR 4 9250053 9250053 single base substitution A G downstream_gene_variant LUSC-KR 4 9250077 9250077 single base substitution C G downstream_gene_variant LUSC-KR 4 9250112 9250112 single base substitution G C downstream_gene_variant LUSC-KR 4 9250119 9250119 single base substitution T A downstream_gene_variant LUSC-KR 4 9250151 9250151 single base substitution T C downstream_gene_variant LUSC-KR 4 9250178 9250178 single base substitution G C downstream_gene_variant LUSC-KR 4 9250182 9250182 single base substitution G T downstream_gene_variant LUSC-KR 4 9250430 9250430 single base substitution C A downstream_gene_variant LUSC-KR 4 9250478 9250478 single base substitution A G downstream_gene_variant LUSC-KR 4 9250514 9250514 single base substitution T C downstream_gene_variant LUSC-KR 4 9250606 9250606 single base substitution A T downstream_gene_variant LUSC-KR 4 9250662 9250662 single base substitution C T downstream_gene_variant LUSC-KR 4 9250736 9250736 single base substitution G T downstream_gene_variant LUSC-KR 4 9250799 9250799 single base substitution A T downstream_gene_variant LUSC-KR 4 9251589 9251589 single base substitution C T downstream_gene_variant LUSC-KR 4 9251815 9251815 single base substitution T A downstream_gene_variant MELA-AU 4 9240761 9240761 single base substitution G A upstream_gene_variant MELA-AU 4 9241350 9241350 single base substitution C T upstream_gene_variant MELA-AU 4 9241812 9241812 single base substitution C T upstream_gene_variant MELA-AU 4 9249956 9249956 single base substitution C T downstream_gene_variant MELA-AU 4 9249960 9249960 single base substitution C T downstream_gene_variant MELA-AU 4 9250189 9250189 single base substitution C T downstream_gene_variant MELA-AU 4 9250224 9250224 single base substitution G A downstream_gene_variant MELA-AU 4 9250287 9250287 single base substitution G A downstream_gene_variant OV-AU 4 9249897 9249897 single base substitution C G downstream_gene_variant PACA-AU 4 9249765 9249765 single base substitution A G downstream_gene_variant PACA-AU 4 9249789 9249789 single base substitution C A downstream_gene_variant PACA-AU 4 9249908 9249908 single base substitution C T downstream_gene_variant PACA-AU 4 9250276 9250276 single base substitution A G downstream_gene_variant PACA-CA 4 9249898 9249898 single base substitution G A downstream_gene_variant PAEN-AU 4 9249813 9249813 single base substitution G C downstream_gene_variant PAEN-AU 4 9250013 9250013 single base substitution C T downstream_gene_variant PRAD-UK 4 9240634 9240634 single base substitution G T upstream_gene_variant PRAD-UK 4 9250152 9250152 single base substitution C T downstream_gene_variant PRAD-US 4 9245880 9245880 deletion of <=200bp C - frameshift_variant N92 SKCA-BR 4 9240919 9240919 single base substitution T C upstream_gene_variant SKCA-BR 4 9245156 9245156 single base substitution C A upstream_gene_variant SKCA-BR 4 9245215 9245215 single base substitution G T upstream_gene_variant SKCA-BR 4 9248155 9248155 single base substitution T G downstream_gene_variant SKCA-BR 4 9249576 9249576 single base substitution C A downstream_gene_variant SKCA-BR 4 9249781 9249781 single base substitution T C downstream_gene_variant SKCA-BR 4 9249789 9249789 single base substitution C A downstream_gene_variant SKCA-BR 4 9249879 9249879 single base substitution A C downstream_gene_variant SKCA-BR 4 9249921 9249921 single base substitution G A downstream_gene_variant SKCA-BR 4 9250178 9250178 single base substitution G C downstream_gene_variant SKCA-BR 4 9250226 9250226 single base substitution A T downstream_gene_variant SKCA-BR 4 9250376 9250376 single base substitution C G downstream_gene_variant SKCA-BR 4 9250430 9250430 single base substitution C A downstream_gene_variant

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.741129 4p16.1