Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 11 75133737 75133737 + Missense_Mutation SNP C C G TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 g.chr11:75133737C>G c.1639G>C c.(1639-1641)Gat>Cat p.D547H BLCA 11 75139529 75139529 + Missense_Mutation SNP C C T TCGA-XF-A9T5-01A-11D-A42E-08 TCGA-XF-A9T5-10A-01D-A42H-08 g.chr11:75139529C>T c.1024G>A c.(1024-1026)Gaa>Aaa p.E342K BLCA 11 75139638 75139638 + Silent SNP G G A TCGA-DK-AA6U-01A-11D-A391-08 TCGA-DK-AA6U-10A-01D-A394-08 g.chr11:75139638G>A c.915C>T c.(913-915)atC>atT p.I305I BLCA 11 75139664 75139664 + Missense_Mutation SNP C C T TCGA-DK-AA6L-01A-11D-A391-08 TCGA-DK-AA6L-10A-01D-A394-08 g.chr11:75139664C>T c.889G>A c.(889-891)Gac>Aac p.D297N BLCA 11 75139672 75139672 + Splice_Site SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 g.chr11:75139672C>G c.e2-1 BRCA 11 75133746 75133746 + Missense_Mutation SNP C C T TCGA-BH-A18H-01A-11D-A12B-09 TCGA-BH-A18H-10A-01D-A12B-09 g.chr11:75133746C>T c.1630G>A c.(1630-1632)Gaa>Aaa p.E544K COAD 11 75134762 75134763 + Frame_Shift_Del DEL CC CC - TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr11:75134762_75134763delCC c.1536_1537delGG c.(1534-1539)ggggagfs p.E513fs COAD 11 75134812 75134812 + Frame_Shift_Del DEL C C - TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr11:75134812delC c.1487delG c.(1486-1488)ggtfs p.G496fs COADREAD 11 75134762 75134763 + Frame_Shift_Del DEL CC CC - TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr11:75134762_75134763delCC c.1536_1537delGG c.(1534-1539)ggggagfs p.E513fs COADREAD 11 75134812 75134812 + Frame_Shift_Del DEL C C - TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr11:75134812delC c.1487delG c.(1486-1488)ggtfs p.G496fs COADREAD 11 75137623 75137623 + Missense_Mutation SNP T T C TCGA-EF-5830-01A-01D-1657-10 TCGA-EF-5830-10A-01D-1657-10 g.chr11:75137623T>C c.1127A>G c.(1126-1128)aAg>aGg p.K376R DLBC 11 75134832 75134832 + Missense_Mutation SNP G G T TCGA-G8-6914-01A-11D-2210-10 TCGA-G8-6914-14A-01D-2210-10 g.chr11:75134832G>T c.1467C>A c.(1465-1467)gaC>gaA p.D489E GBMLGG 11 75133660 75133660 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr11:75133660G>A c.1716C>T c.(1714-1716)caC>caT p.H572H GBMLGG 11 75139543 75139543 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr11:75139543C>T c.1010G>A c.(1009-1011)gGc>gAc p.G337D HNSC 11 75139524 75139524 + Silent SNP G G A TCGA-CV-7446-01A-11D-2229-08 TCGA-CV-7446-10A-01D-2229-08 g.chr11:75139524G>A c.1029C>T c.(1027-1029)ttC>ttT p.F343F LGG 11 75133660 75133660 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr11:75133660G>A c.1716C>T c.(1714-1716)caC>caT p.H572H LGG 11 75139543 75139543 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr11:75139543C>T c.1010G>A c.(1009-1011)gGc>gAc p.G337D LIHC 11 75134789 75134789 + Missense_Mutation SNP A A T TCGA-ED-A7XO-01A-11D-A34Z-10 TCGA-ED-A7XO-10A-01D-A34Z-10 g.chr11:75134789A>T c.1510T>A c.(1510-1512)Tat>Aat p.Y504N LIHC 11 75139638 75139638 + Silent SNP G G T TCGA-CC-A8HU-01A-11D-A35Z-10 TCGA-CC-A8HU-10A-01D-A35Z-10 g.chr11:75139638G>T c.915C>A c.(913-915)atC>atA p.I305I LIHC 11 75139660 75139660 + Missense_Mutation SNP A A G TCGA-UB-A7MB-01A-11D-A33Q-10 TCGA-UB-A7MB-10A-01D-A33Q-10 g.chr11:75139660A>G c.893T>C c.(892-894)cTa>cCa p.L298P LIHC 11 75140869 75140869 + Missense_Mutation SNP C C T TCGA-WQ-A9G7-01A-11D-A36X-10 TCGA-WQ-A9G7-10A-01D-A370-10 g.chr11:75140869C>T c.806G>A c.(805-807)cGc>cAc p.R269H LUAD 11 75134888 75134888 + Missense_Mutation SNP G G T TCGA-80-5608-01A-31D-1945-08 TCGA-80-5608-10A-01D-1946-08 g.chr11:75134888G>T c.1411C>A c.(1411-1413)Ctg>Atg p.L471M LUAD 11 75136592 75136592 + Missense_Mutation SNP C C T TCGA-64-5779-01A-01D-1625-08 TCGA-64-5779-10A-01D-1625-08 g.chr11:75136592C>T c.1220G>A c.(1219-1221)cGc>cAc p.R407H LUAD 11 75139580 75139580 + Missense_Mutation SNP C C T TCGA-55-A48Y-01A-11D-A24D-08 TCGA-55-A48Y-10A-01D-A24F-08 g.chr11:75139580C>T c.973G>A c.(973-975)Gag>Aag p.E325K LUAD 11 75139628 75139628 + Missense_Mutation SNP C C G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 g.chr11:75139628C>G c.925G>C c.(925-927)Gac>Cac p.D309H LUSC 11 75139655 75139655 + Missense_Mutation SNP C C T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 g.chr11:75139655C>T c.898G>A c.(898-900)Gaa>Aaa p.E300K READ 11 75137623 75137623 + Missense_Mutation SNP T T C TCGA-EF-5830-01A-01D-1657-10 TCGA-EF-5830-10A-01D-1657-10 g.chr11:75137623T>C c.1127A>G c.(1126-1128)aAg>aGg p.K376R SKCM 11 75134884 75134884 + Missense_Mutation SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 g.chr11:75134884C>T c.1415G>A c.(1414-1416)cGg>cAg p.R472Q SKCM 11 75134908 75134908 + Missense_Mutation SNP G G A TCGA-EE-A29X-06A-11D-A196-08 TCGA-EE-A29X-10A-01D-A198-08 g.chr11:75134908G>A c.1391C>T c.(1390-1392)cCc>cTc p.P464L SKCM 11 75136525 75136525 + Silent SNP C C T TCGA-ER-A19W-06A-41D-A23B-08 TCGA-ER-A19W-10A-01D-A23B-08 g.chr11:75136525C>T c.1287G>A c.(1285-1287)gaG>gaA p.E429E

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 11 75129407 75129407 single base substitution T G downstream_gene_variant BRCA-EU 11 75130401 75130401 single base substitution T C downstream_gene_variant BRCA-EU 11 75130965 75130965 single base substitution T A downstream_gene_variant BRCA-EU 11 75131448 75131448 single base substitution C T downstream_gene_variant BRCA-EU 11 75133265 75133265 single base substitution C G downstream_gene_variant BRCA-EU 11 75133427 75133427 single base substitution G C downstream_gene_variant BRCA-EU 11 75134012 75134013 deletion of <=200bp TT - downstream_gene_variant BRCA-EU 11 75134012 75134013 deletion of <=200bp TT - intron_variant BRCA-EU 11 75135223 75135223 deletion of <=200bp C - downstream_gene_variant BRCA-EU 11 75135223 75135223 deletion of <=200bp C - intron_variant BRCA-EU 11 75135384 75135384 single base substitution G A downstream_gene_variant BRCA-EU 11 75135384 75135384 single base substitution G A intron_variant BRCA-EU 11 75135866 75135866 single base substitution C G downstream_gene_variant BRCA-EU 11 75135866 75135866 single base substitution C G intron_variant BRCA-EU 11 75136456 75136456 single base substitution G A downstream_gene_variant BRCA-EU 11 75136456 75136456 single base substitution G A exon_variant BRCA-EU 11 75136456 75136456 single base substitution G A synonymous_variant G232G 696C>T BRCA-EU 11 75136456 75136456 single base substitution G A synonymous_variant G452G 1356C>T BRCA-EU 11 75137454 75137454 deletion of <=200bp G - exon_variant BRCA-EU 11 75137454 75137454 deletion of <=200bp G - intron_variant BRCA-EU 11 75139521 75139521 single base substitution G A exon_variant BRCA-EU 11 75139521 75139521 single base substitution G A synonymous_variant A124A 372C>T BRCA-EU 11 75139521 75139521 single base substitution G A synonymous_variant A344A 1032C>T BRCA-EU 11 75139521 75139521 single base substitution G A upstream_gene_variant BRCA-EU 11 75139771 75139771 single base substitution G A intron_variant BRCA-EU 11 75139771 75139771 single base substitution G A upstream_gene_variant BRCA-EU 11 75140257 75140257 single base substitution C T intron_variant BRCA-EU 11 75140257 75140257 single base substitution C T upstream_gene_variant BRCA-EU 11 75140876 75140876 single base substitution C T exon_variant BRCA-EU 11 75140876 75140876 single base substitution C T missense_variant E267K 799G>A BRCA-EU 11 75140876 75140876 single base substitution C T missense_variant E47K 139G>A BRCA-EU 11 75140876 75140876 single base substitution C T upstream_gene_variant BRCA-EU 11 75142280 75142280 single base substitution C G upstream_gene_variant BRCA-EU 11 75143015 75143015 single base substitution G T upstream_gene_variant BRCA-EU 11 75144161 75144161 single base substitution C G upstream_gene_variant BRCA-EU 11 75145969 75145969 single base substitution C T upstream_gene_variant BRCA-FR 11 75133639 75133639 single base substitution C G downstream_gene_variant BRCA-FR 11 75133639 75133639 single base substitution C G exon_variant BRCA-FR 11 75133639 75133639 single base substitution C G missense_variant Q359H 1077G>C BRCA-FR 11 75133639 75133639 single base substitution C G missense_variant Q579H 1737G>C BRCA-FR 11 75140257 75140257 single base substitution C T intron_variant BRCA-FR 11 75140257 75140257 single base substitution C T upstream_gene_variant BRCA-FR 11 75144463 75144463 single base substitution G A upstream_gene_variant BRCA-FR 11 75145969 75145969 single base substitution C T upstream_gene_variant BRCA-UK 11 75129407 75129407 single base substitution T G downstream_gene_variant BRCA-UK 11 75135866 75135866 single base substitution C G downstream_gene_variant BRCA-UK 11 75135866 75135866 single base substitution C G intron_variant BRCA-UK 11 75141449 75141449 single base substitution C G missense_variant E76Q 226G>C BRCA-UK 11 75141449 75141449 single base substitution C G upstream_gene_variant BRCA-UK 11 75143953 75143953 single base substitution C G upstream_gene_variant BRCA-UK 11 75144045 75144045 single base substitution C T upstream_gene_variant BRCA-US 11 75133746 75133746 single base substitution C T downstream_gene_variant BRCA-US 11 75133746 75133746 single base substitution C T exon_variant BRCA-US 11 75133746 75133746 single base substitution C T missense_variant E324K 970G>A BRCA-US 11 75133746 75133746 single base substitution C T missense_variant E544K 1630G>A BTCA-JP 11 75139504 75139504 single base substitution T G exon_variant BTCA-JP 11 75139504 75139504 single base substitution T G missense_variant N130T 389A>C BTCA-JP 11 75139504 75139504 single base substitution T G missense_variant N350T 1049A>C BTCA-JP 11 75139504 75139504 single base substitution T G upstream_gene_variant COAD-US 11 75134762 75134763 deletion of <=200bp CC - downstream_gene_variant COAD-US 11 75134762 75134763 deletion of <=200bp CC - exon_variant COAD-US 11 75134762 75134763 deletion of <=200bp CC - frameshift_variant GE292 COAD-US 11 75134762 75134763 deletion of <=200bp CC - frameshift_variant GE512 COAD-US 11 75134812 75134812 deletion of <=200bp C - downstream_gene_variant COAD-US 11 75134812 75134812 deletion of <=200bp C - exon_variant COAD-US 11 75134812 75134812 deletion of <=200bp C - frameshift_variant G276 COAD-US 11 75134812 75134812 deletion of <=200bp C - frameshift_variant G496 COAD-US 11 75136452 75136452 single base substitution C T downstream_gene_variant COAD-US 11 75136452 75136452 single base substitution C T exon_variant COAD-US 11 75136452 75136452 single base substitution C T missense_variant V234I 700G>A COAD-US 11 75136452 75136452 single base substitution C T missense_variant V454I 1360G>A COCA-CN 11 75136468 75136468 single base substitution G A downstream_gene_variant COCA-CN 11 75136468 75136468 single base substitution G A exon_variant COCA-CN 11 75136468 75136468 single base substitution G A synonymous_variant G228G 684C>T COCA-CN 11 75136468 75136468 single base substitution G A synonymous_variant G448G 1344C>T COCA-CN 11 75141630 75141630 single base substitution T C synonymous_variant E15E 45A>G COCA-CN 11 75141630 75141630 single base substitution T C upstream_gene_variant EOPC-DE 11 75133604 75133604 single base substitution T A 3_prime_UTR_variant EOPC-DE 11 75133604 75133604 single base substitution T A downstream_gene_variant EOPC-DE 11 75133604 75133604 single base substitution T A exon_variant EOPC-DE 11 75133605 75133605 single base substitution C A 3_prime_UTR_variant EOPC-DE 11 75133605 75133605 single base substitution C A downstream_gene_variant EOPC-DE 11 75133605 75133605 single base substitution C A exon_variant ESAD-UK 11 75128598 75128598 single base substitution G A downstream_gene_variant ESAD-UK 11 75128636 75128636 single base substitution G A downstream_gene_variant ESAD-UK 11 75128638 75128639 deletion of <=200bp CA - downstream_gene_variant ESAD-UK 11 75129547 75129547 single base substitution T A downstream_gene_variant ESAD-UK 11 75132139 75132139 single base substitution G T downstream_gene_variant ESAD-UK 11 75132276 75132276 single base substitution G T downstream_gene_variant ESAD-UK 11 75138740 75138740 single base substitution C T intron_variant ESAD-UK 11 75138740 75138740 single base substitution C T upstream_gene_variant ESAD-UK 11 75139279 75139279 single base substitution C T intron_variant ESAD-UK 11 75139279 75139279 single base substitution C T upstream_gene_variant ESAD-UK 11 75142627 75142627 single base substitution C A upstream_gene_variant ESAD-UK 11 75142904 75142904 single base substitution G A upstream_gene_variant ESAD-UK 11 75143753 75143753 single base substitution C A upstream_gene_variant ESCA-CN 11 75136519 75136519 single base substitution C T downstream_gene_variant ESCA-CN 11 75136519 75136519 single base substitution C T exon_variant ESCA-CN 11 75136519 75136519 single base substitution C T synonymous_variant V211V 633G>A ESCA-CN 11 75136519 75136519 single base substitution C T synonymous_variant V431V 1293G>A ESCA-CN 11 75139535 75139535 single base substitution G A exon_variant ESCA-CN 11 75139535 75139535 single base substitution G A missense_variant R120C 358C>T ESCA-CN 11 75139535 75139535 single base substitution G A missense_variant R340C 1018C>T ESCA-CN 11 75139535 75139535 single base substitution G A upstream_gene_variant ESCA-CN 11 75139664 75139664 single base substitution C G exon_variant ESCA-CN 11 75139664 75139664 single base substitution C G missense_variant D297H 889G>C ESCA-CN 11 75139664 75139664 single base substitution C G missense_variant D77H 229G>C ESCA-CN 11 75139664 75139664 single base substitution C G upstream_gene_variant KIRP-US 11 75140917 75140917 deletion of <=200bp A - exon_variant KIRP-US 11 75140917 75140917 deletion of <=200bp A - frameshift_variant L253 KIRP-US 11 75140917 75140917 deletion of <=200bp A - frameshift_variant L33 KIRP-US 11 75140917 75140917 deletion of <=200bp A - upstream_gene_variant KIRP-US 11 75146590 75146590 insertion of <=200bp - G upstream_gene_variant LICA-CN 11 75139547 75139547 single base substitution G T exon_variant LICA-CN 11 75139547 75139547 single base substitution G T missense_variant P116T 346C>A LICA-CN 11 75139547 75139547 single base substitution G T missense_variant P336T 1006C>A LICA-CN 11 75139547 75139547 single base substitution G T upstream_gene_variant LICA-FR 11 75133698 75133698 single base substitution C T downstream_gene_variant LICA-FR 11 75133698 75133698 single base substitution C T exon_variant LICA-FR 11 75133698 75133698 single base substitution C T missense_variant E340K 1018G>A LICA-FR 11 75133698 75133698 single base substitution C T missense_variant E560K 1678G>A LICA-FR 11 75139604 75139606 deletion of <=200bp GCA - disruptive_inframe_deletion LP316P LICA-FR 11 75139604 75139606 deletion of <=200bp GCA - disruptive_inframe_deletion LP96P LICA-FR 11 75139604 75139606 deletion of <=200bp GCA - exon_variant LICA-FR 11 75139604 75139606 deletion of <=200bp GCA - upstream_gene_variant LICA-FR 11 75145053 75145053 single base substitution C A upstream_gene_variant LIHC-US 11 75134789 75134789 single base substitution A T downstream_gene_variant LIHC-US 11 75134789 75134789 single base substitution A T exon_variant LIHC-US 11 75134789 75134789 single base substitution A T missense_variant Y284N 850T>A LIHC-US 11 75134789 75134789 single base substitution A T missense_variant Y504N 1510T>A LIHC-US 11 75139660 75139660 single base substitution A G exon_variant LIHC-US 11 75139660 75139660 single base substitution A G missense_variant L298P 893T>C LIHC-US 11 75139660 75139660 single base substitution A G missense_variant L78P 233T>C LIHC-US 11 75139660 75139660 single base substitution A G upstream_gene_variant LINC-JP 11 75136580 75136580 single base substitution A T exon_variant LINC-JP 11 75136580 75136580 single base substitution A T missense_variant V191E 572T>A LINC-JP 11 75136580 75136580 single base substitution A T missense_variant V411E 1232T>A LINC-JP 11 75146642 75146642 single base substitution A G upstream_gene_variant LIRI-JP 11 75131956 75131956 single base substitution G T downstream_gene_variant LIRI-JP 11 75132139 75132139 single base substitution G A downstream_gene_variant LIRI-JP 11 75134675 75134675 single base substitution G A downstream_gene_variant LIRI-JP 11 75134675 75134675 single base substitution G A intron_variant LIRI-JP 11 75136409 75136409 single base substitution G A downstream_gene_variant LIRI-JP 11 75136409 75136409 single base substitution G A intron_variant LIRI-JP 11 75138093 75138093 single base substitution G A intron_variant LIRI-JP 11 75138093 75138093 single base substitution G A upstream_gene_variant LIRI-JP 11 75138891 75138891 single base substitution G A intron_variant LIRI-JP 11 75138891 75138891 single base substitution G A upstream_gene_variant LIRI-JP 11 75139916 75139916 single base substitution C G intron_variant LIRI-JP 11 75139916 75139916 single base substitution C G upstream_gene_variant LIRI-JP 11 75141856 75141856 single base substitution T C upstream_gene_variant LIRI-JP 11 75146367 75146367 single base substitution C T upstream_gene_variant LUSC-KR 11 75129568 75129568 single base substitution G T downstream_gene_variant LUSC-KR 11 75133775 75133775 single base substitution T C downstream_gene_variant LUSC-KR 11 75133775 75133775 single base substitution T C exon_variant LUSC-KR 11 75133775 75133775 single base substitution T C missense_variant H314R 941A>G LUSC-KR 11 75133775 75133775 single base substitution T C missense_variant H534R 1601A>G LUSC-KR 11 75136597 75136597 single base substitution C T exon_variant LUSC-KR 11 75136597 75136597 single base substitution C T synonymous_variant L185L 555G>A LUSC-KR 11 75136597 75136597 single base substitution C T synonymous_variant L405L 1215G>A LUSC-KR 11 75138864 75138864 single base substitution C G intron_variant LUSC-KR 11 75138864 75138864 single base substitution C G upstream_gene_variant LUSC-KR 11 75139775 75139775 single base substitution C G intron_variant LUSC-KR 11 75139775 75139775 single base substitution C G upstream_gene_variant LUSC-KR 11 75140615 75140615 single base substitution C G intron_variant LUSC-KR 11 75140615 75140615 single base substitution C G upstream_gene_variant LUSC-KR 11 75141157 75141157 single base substitution C T 5_prime_UTR_variant LUSC-KR 11 75141157 75141157 single base substitution C T missense_variant R173H 518G>A LUSC-KR 11 75141157 75141157 single base substitution C T upstream_gene_variant LUSC-KR 11 75146384 75146384 single base substitution A G upstream_gene_variant LUSC-US 11 75139655 75139655 single base substitution C T exon_variant LUSC-US 11 75139655 75139655 single base substitution C T missense_variant E300K 898G>A LUSC-US 11 75139655 75139655 single base substitution C T missense_variant E80K 238G>A LUSC-US 11 75139655 75139655 single base substitution C T upstream_gene_variant MALY-DE 11 75141484 75141492 deletion of <=200bp GCGCTGCCC - disruptive_inframe_deletion AGSA61A MALY-DE 11 75141484 75141492 deletion of <=200bp GCGCTGCCC - upstream_gene_variant MALY-DE 11 75146611 75146611 single base substitution C T upstream_gene_variant MELA-AU 11 75129088 75129088 single base substitution C T downstream_gene_variant MELA-AU 11 75129405 75129405 single base substitution C T downstream_gene_variant MELA-AU 11 75129553 75129553 single base substitution A T downstream_gene_variant MELA-AU 11 75129639 75129639 single base substitution T C downstream_gene_variant MELA-AU 11 75130043 75130043 single base substitution A T downstream_gene_variant MELA-AU 11 75130656 75130656 single base substitution G A downstream_gene_variant MELA-AU 11 75130873 75130873 single base substitution T A downstream_gene_variant MELA-AU 11 75131448 75131448 single base substitution C T downstream_gene_variant MELA-AU 11 75131898 75131898 deletion of <=200bp T - downstream_gene_variant MELA-AU 11 75132013 75132013 single base substitution C T downstream_gene_variant MELA-AU 11 75132039 75132040 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 11 75134472 75134472 deletion of <=200bp C - downstream_gene_variant MELA-AU 11 75134472 75134472 deletion of <=200bp C - intron_variant MELA-AU 11 75134506 75134506 single base substitution G A downstream_gene_variant MELA-AU 11 75134506 75134506 single base substitution G A intron_variant MELA-AU 11 75134581 75134581 single base substitution C T downstream_gene_variant MELA-AU 11 75134581 75134581 single base substitution C T intron_variant MELA-AU 11 75134908 75134908 single base substitution G A downstream_gene_variant MELA-AU 11 75134908 75134908 single base substitution G A exon_variant MELA-AU 11 75134908 75134908 single base substitution G A missense_variant P244L 731C>T MELA-AU 11 75134908 75134908 single base substitution G A missense_variant P464L 1391C>T MELA-AU 11 75135000 75135000 single base substitution C T downstream_gene_variant MELA-AU 11 75135000 75135000 single base substitution C T intron_variant MELA-AU 11 75135388 75135388 single base substitution G A downstream_gene_variant MELA-AU 11 75135388 75135388 single base substitution G A intron_variant MELA-AU 11 75135810 75135810 single base substitution A G downstream_gene_variant MELA-AU 11 75135810 75135810 single base substitution A G intron_variant MELA-AU 11 75137085 75137086 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 11 75137085 75137086 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 11 75137200 75137201 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 11 75137200 75137201 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 11 75138833 75138833 single base substitution C T intron_variant MELA-AU 11 75138833 75138833 single base substitution C T upstream_gene_variant MELA-AU 11 75138843 75138843 single base substitution G A intron_variant MELA-AU 11 75138843 75138843 single base substitution G A upstream_gene_variant MELA-AU 11 75139456 75139456 single base substitution G A intron_variant MELA-AU 11 75139456 75139456 single base substitution G A upstream_gene_variant MELA-AU 11 75139706 75139706 deletion of <=200bp G - intron_variant MELA-AU 11 75139706 75139706 deletion of <=200bp G - upstream_gene_variant MELA-AU 11 75139749 75139749 single base substitution C T intron_variant MELA-AU 11 75139749 75139749 single base substitution C T upstream_gene_variant MELA-AU 11 75140114 75140114 single base substitution T C intron_variant MELA-AU 11 75140114 75140114 single base substitution T C upstream_gene_variant MELA-AU 11 75140405 75140405 single base substitution C T intron_variant MELA-AU 11 75140405 75140405 single base substitution C T upstream_gene_variant MELA-AU 11 75140787 75140787 single base substitution G C intron_variant MELA-AU 11 75140787 75140787 single base substitution G C upstream_gene_variant MELA-AU 11 75141707 75141707 single base substitution G T upstream_gene_variant MELA-AU 11 75142451 75142451 single base substitution G A upstream_gene_variant MELA-AU 11 75142996 75142996 single base substitution C A upstream_gene_variant MELA-AU 11 75143038 75143038 single base substitution C T upstream_gene_variant MELA-AU 11 75143073 75143073 single base substitution G A upstream_gene_variant MELA-AU 11 75143186 75143186 single base substitution C T upstream_gene_variant MELA-AU 11 75143282 75143283 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 11 75143384 75143384 single base substitution G A upstream_gene_variant MELA-AU 11 75143419 75143419 single base substitution G A upstream_gene_variant MELA-AU 11 75143506 75143507 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 11 75144011 75144012 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 11 75144704 75144704 single base substitution G A upstream_gene_variant MELA-AU 11 75145692 75145692 single base substitution G A upstream_gene_variant MELA-AU 11 75145901 75145901 single base substitution G A upstream_gene_variant MELA-AU 11 75145973 75145974 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 11 75146047 75146047 single base substitution C G upstream_gene_variant MELA-AU 11 75146125 75146125 single base substitution C T upstream_gene_variant MELA-AU 11 75146324 75146324 single base substitution G A upstream_gene_variant MELA-AU 11 75146424 75146424 single base substitution G A upstream_gene_variant MELA-AU 11 75146491 75146492 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant ORCA-IN 11 75134898 75134898 single base substitution G T downstream_gene_variant ORCA-IN 11 75134898 75134898 single base substitution G T exon_variant ORCA-IN 11 75134898 75134898 single base substitution G T missense_variant D247E 741C>A ORCA-IN 11 75134898 75134898 single base substitution G T missense_variant D467E 1401C>A ORCA-IN 11 75139545 75139545 single base substitution G T exon_variant ORCA-IN 11 75139545 75139545 single base substitution G T synonymous_variant P116P 348C>A ORCA-IN 11 75139545 75139545 single base substitution G T synonymous_variant P336P 1008C>A ORCA-IN 11 75139545 75139545 single base substitution G T upstream_gene_variant OV-AU 11 75128455 75128455 single base substitution C T downstream_gene_variant OV-AU 11 75128567 75128567 single base substitution G A downstream_gene_variant OV-AU 11 75130677 75130677 single base substitution A G downstream_gene_variant OV-AU 11 75133799 75133799 single base substitution A C downstream_gene_variant OV-AU 11 75133799 75133799 single base substitution A C exon_variant OV-AU 11 75133799 75133799 single base substitution A C missense_variant V306G 917T>G OV-AU 11 75133799 75133799 single base substitution A C missense_variant V526G 1577T>G OV-AU 11 75135994 75135994 single base substitution T A downstream_gene_variant OV-AU 11 75135994 75135994 single base substitution T A intron_variant OV-AU 11 75137809 75137809 single base substitution G A exon_variant OV-AU 11 75137809 75137809 single base substitution G A intron_variant OV-AU 11 75138785 75138785 single base substitution C G intron_variant OV-AU 11 75138785 75138785 single base substitution C G upstream_gene_variant PACA-AU 11 75132982 75132982 single base substitution T C downstream_gene_variant PACA-AU 11 75133749 75133749 single base substitution C G downstream_gene_variant PACA-AU 11 75133749 75133749 single base substitution C G exon_variant PACA-AU 11 75133749 75133749 single base substitution C G missense_variant G323R 967G>C PACA-AU 11 75133749 75133749 single base substitution C G missense_variant G543R 1627G>C PACA-AU 11 75138792 75138792 single base substitution G T intron_variant PACA-AU 11 75138792 75138792 single base substitution G T upstream_gene_variant PACA-AU 11 75139435 75139435 single base substitution C T intron_variant PACA-AU 11 75139435 75139435 single base substitution C T upstream_gene_variant PACA-AU 11 75139731 75139731 single base substitution C G intron_variant PACA-AU 11 75139731 75139731 single base substitution C G upstream_gene_variant PACA-CA 11 75129565 75129565 single base substitution A G downstream_gene_variant PACA-CA 11 75133714 75133714 single base substitution G T downstream_gene_variant PACA-CA 11 75133714 75133714 single base substitution G T exon_variant PACA-CA 11 75133714 75133714 single base substitution G T synonymous_variant P334P 1002C>A PACA-CA 11 75133714 75133714 single base substitution G T synonymous_variant P554P 1662C>A PACA-CA 11 75135197 75135197 single base substitution C T downstream_gene_variant PACA-CA 11 75135197 75135197 single base substitution C T intron_variant PACA-CA 11 75137995 75137995 single base substitution C T intron_variant PACA-CA 11 75137995 75137995 single base substitution C T upstream_gene_variant PACA-CA 11 75142668 75142668 single base substitution A T upstream_gene_variant PACA-CA 11 75143333 75143333 single base substitution G A upstream_gene_variant PACA-CA 11 75145075 75145075 single base substitution G A upstream_gene_variant PAEN-AU 11 75140878 75140878 single base substitution C G exon_variant PAEN-AU 11 75140878 75140878 single base substitution C G missense_variant G266A 797G>C PAEN-AU 11 75140878 75140878 single base substitution C G missense_variant G46A 137G>C PAEN-AU 11 75140878 75140878 single base substitution C G upstream_gene_variant PBCA-DE 11 75132677 75132677 single base substitution T G downstream_gene_variant PRAD-CA 11 75129169 75129169 single base substitution C T downstream_gene_variant PRAD-US 11 75146556 75146556 single base substitution C T upstream_gene_variant RECA-EU 11 75134796 75134796 single base substitution G A downstream_gene_variant RECA-EU 11 75134796 75134796 single base substitution G A exon_variant RECA-EU 11 75134796 75134796 single base substitution G A synonymous_variant I281I 843C>T RECA-EU 11 75134796 75134796 single base substitution G A synonymous_variant I501I 1503C>T SKCA-BR 11 75130965 75130965 single base substitution T A downstream_gene_variant SKCA-BR 11 75134820 75134820 single base substitution G A downstream_gene_variant SKCA-BR 11 75134820 75134820 single base substitution G A exon_variant SKCA-BR 11 75134820 75134820 single base substitution G A synonymous_variant V273V 819C>T SKCA-BR 11 75134820 75134820 single base substitution G A synonymous_variant V493V 1479C>T SKCA-BR 11 75137995 75137995 single base substitution C T intron_variant SKCA-BR 11 75137995 75137995 single base substitution C T upstream_gene_variant SKCA-BR 11 75138777 75138777 single base substitution C T intron_variant SKCA-BR 11 75138777 75138777 single base substitution C T upstream_gene_variant SKCA-BR 11 75141825 75141825 single base substitution G C upstream_gene_variant SKCA-BR 11 75142455 75142455 single base substitution T G upstream_gene_variant SKCA-BR 11 75142465 75142465 single base substitution A G upstream_gene_variant SKCA-BR 11 75142475 75142475 single base substitution T G upstream_gene_variant SKCM-US 11 75134884 75134884 single base substitution C T downstream_gene_variant SKCM-US 11 75134884 75134884 single base substitution C T exon_variant SKCM-US 11 75134884 75134884 single base substitution C T missense_variant R252Q 755G>A SKCM-US 11 75134884 75134884 single base substitution C T missense_variant R472Q 1415G>A SKCM-US 11 75134908 75134908 single base substitution G A downstream_gene_variant SKCM-US 11 75134908 75134908 single base substitution G A exon_variant SKCM-US 11 75134908 75134908 single base substitution G A missense_variant P244L 731C>T SKCM-US 11 75134908 75134908 single base substitution G A missense_variant P464L 1391C>T SKCM-US 11 75136525 75136525 single base substitution C T downstream_gene_variant SKCM-US 11 75136525 75136525 single base substitution C T exon_variant SKCM-US 11 75136525 75136525 single base substitution C T synonymous_variant E209E 627G>A SKCM-US 11 75136525 75136525 single base substitution C T synonymous_variant E429E 1287G>A SKCM-US 11 75146615 75146615 single base substitution G A upstream_gene_variant STAD-US 11 75134734 75134734 single base substitution A G downstream_gene_variant STAD-US 11 75134734 75134734 single base substitution A G splice_donor_variant STAD-US 11 75139513 75139513 single base substitution G A exon_variant STAD-US 11 75139513 75139513 single base substitution G A missense_variant A127V 380C>T STAD-US 11 75139513 75139513 single base substitution G A missense_variant A347V 1040C>T STAD-US 11 75139513 75139513 single base substitution G A upstream_gene_variant STAD-US 11 75146602 75146602 single base substitution G A upstream_gene_variant THCA-US 11 75134897 75134897 single base substitution G A downstream_gene_variant THCA-US 11 75134897 75134897 single base substitution G A exon_variant THCA-US 11 75134897 75134897 single base substitution G A missense_variant R248W 742C>T THCA-US 11 75134897 75134897 single base substitution G A missense_variant R468W 1402C>T UCEC-US 11 75139545 75139553 deletion of <=200bp GGGCAGGCT - exon_variant UCEC-US 11 75139545 75139553 deletion of <=200bp GGGCAGGCT - inframe_deletion SLP114 UCEC-US 11 75139545 75139553 deletion of <=200bp GGGCAGGCT - inframe_deletion SLP334 UCEC-US 11 75139545 75139553 deletion of <=200bp GGGCAGGCT - upstream_gene_variant UCEC-US 11 75146607 75146607 single base substitution C T upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand CHC1603T COSM5347719 c.947_949delTGC p.L316delL Deletion - In frame 11:75428559-75428561 - C84 COSM4619972 c.1263G>A p.W421* Substitution - Nonsense 11:75425504-75425504 - CHEWS026 COSM4574803 c.1393A>G p.K465E Substitution - Missense 11:75423862-75423862 - C0008T COSM4165952 c.1503C>T p.I501I Substitution - coding silent 11:75423752-75423752 - CCK81 COSM4620650 c.1273G>A p.A425T Substitution - Missense 11:75425494-75425494 - PD9597a COSM5789574 c.799G>A p.E267K Substitution - Missense 11:75429831-75429831 - 3N54-VS-3T54 COSM4983639 c.1674G>A p.Q558Q Substitution - coding silent 11:75422658-75422658 - TCGA-ER-A19W-06 COSM4398765 c.1287G>A p.E429E Substitution - coding silent 11:75425480-75425480 - TCGA-BH-A18H-01 COSM429859 c.1630G>A p.E544K Substitution - Missense 11:75422702-75422702 - TCGA-ED-A7XO-01 COSM4929168 c.1510T>A p.Y504N Substitution - Missense 11:75423745-75423745 - OSCC-GB_00620111 COSM4881328 c.1401C>A p.D467E Substitution - Missense 11:75423854-75423854 - TCGA-60-2698-01 COSM690665 c.898G>A p.E300K Substitution - Missense 11:75428610-75428610 - OSCC-GB_00660111 COSM4888821 c.1008C>A p.P336P Substitution - coding silent 11:75428500-75428500 - 8051712 COSM3769450 c.797G>C p.G266A Substitution - Missense 11:75429833-75429833 - 587346 COSM1212656 c.998C>T p.P333L Substitution - Missense 11:75428510-75428510 - Pat_76_A COSM5839606 c.1613G>A p.G538E Substitution - Missense 11:75422719-75422719 - ESCC_83 COSM5636240 c.1628G>A p.G543E Substitution - Missense 11:75422704-75422704 - CHC314T COSM4950299 c.1678G>A p.E560K Substitution - Missense 11:75422654-75422654 - TCGA-D3-A51T-06 COSM3453348 c.1415G>A p.R472Q Substitution - Missense 11:75423840-75423840 - TCGA-E3-A3DZ-01 COSM3368568 c.1402C>T p.R468W Substitution - Missense 11:75423853-75423853 - Pat_63_B COSM5839607 c.1483G>A p.G495R Substitution - Missense 11:75423772-75423772 - CHC314T COSM4950299 c.1678G>A p.E560K Substitution - Missense 11:75422654-75422654 - TCGA-D5-6540-01 COSM1356992 c.1536_1537delGG p.E513fs*17 Deletion - Frameshift 11:75423718-75423719 - T1154 COSM4696545 c.1537_1538insG p.E513fs*18 Insertion - Frameshift 11:75423717-75423718 - HCC149T COSM3703691 c.1232T>A p.V411E Substitution - Missense 11:75425535-75425535 - Pat_76_B COSM5839606 c.1613G>A p.G538E Substitution - Missense 11:75422719-75422719 - TCGA-AM-5820-01 COSM3687643 c.1360G>A p.V454I Substitution - Missense 11:75425407-75425407 - YUTUR COSM5373603 c.1106C>A p.S369Y Substitution - Missense 11:75426599-75426599 - ESCC_BICR_012T COSM5432999 c.889G>C p.D297H Substitution - Missense 11:75428619-75428619 - TCGA-AZ-6598-01 COSM1356993 c.1487delG p.G496fs*3 Deletion - Frameshift 11:75423768-75423768 - RMS2110 COSM5881044 c.1304C>T p.A435V Substitution - Missense 11:75425463-75425463 - RD COSM4989737 c.634C>T p.R212C Substitution - Missense 11:75429996-75429996 - ESCC_BICR_054T COSM5444181 c.1018C>T p.R340C Substitution - Missense 11:75428490-75428490 - 35M COSM5581494 c.151G>A p.D51N Substitution - Missense 11:75430479-75430479 - sysucc-1397T COSM5473240 c.1344C>T p.G448G Substitution - coding silent 11:75425423-75425423 - T2197 COSM4696544 c.1562T>G p.V521G Substitution - Missense 11:75423693-75423693 - 8012211 COSM3383831 c.1627G>C p.G543R Substitution - Missense 11:75422705-75422705 - KM12 COSM4638855 c.1194G>A p.A398A Substitution - coding silent 11:75425573-75425573 - ESCC_BICR_040T COSM5429784 c.1293G>A p.V431V Substitution - coding silent 11:75425474-75425474 - TCGA-EE-A29X-06 COSM3453349 c.1391C>T p.P464L Substitution - Missense 11:75423864-75423864 - AOCS-143-1-0 COSM3980676 c.1577T>G p.V526G Substitution - Missense 11:75422755-75422755 - GC8_T COSM147290 c.1611C>T p.G537G Substitution - coding silent 11:75422721-75422721 - ESO-187 COSM1255988 c.1624C>A p.R542S Substitution - Missense 11:75422708-75422708 - ICC013T COSM5814096 c.1006C>A p.P336T Substitution - Missense 11:75428502-75428502 - 2171662 COSM4423048 c.1487_1488insG p.L497fs*9 Insertion - Frameshift 11:75423767-75423768 - TCGA-HU-A4GX-01 COSM4036734 c.1040C>T p.A347V Substitution - Missense 11:75428468-75428468 - HCC149 COSM3703691 c.1232T>A p.V411E Substitution - Missense 11:75425535-75425535 - 8051712 COSM3769450 c.797G>C p.G266A Substitution - Missense 11:75429833-75429833 - pfg127T COSM4757613 c.1375-2A>C p.? Unknown 11:75423882-75423882 - T1154 COSM4696546 c.884T>A p.F295Y Substitution - Missense 11:75428624-75428624 - BD235T COSM5501644 c.1049A>C p.N350T Substitution - Missense 11:75428459-75428459 - Pat_73_A COSM2018013 c.1537delG p.E513fs*>71 Deletion - Frameshift 11:75423718-75423718 - TCGA-B5-A11N-01 COSM931987 c.1000_1008delAGCCTGCCC p.S334_P336delSLP Deletion - In frame 11:75428500-75428508 - S01864 COSM5671586 c.762G>T p.E254D Substitution - Missense 11:75429868-75429868 - TCGA-UB-A7MB-01 COSM4932454 c.893T>C p.L298P Substitution - Missense 11:75428615-75428615 - 10-P083 COSM4574802 c.1403G>A p.R468Q Substitution - Missense 11:75423852-75423852 - ESO-859 COSM1239282 c.1284G>A p.P428P Substitution - coding silent 11:75425483-75425483 - PD13298a COSM2018015 c.1032C>T p.A344A Substitution - coding silent 11:75428476-75428476 - sysucc-1163T COSM5458289 c.45A>G p.E15E Substitution - coding silent 11:75430585-75430585 - LC_C23 COSM1188353 c.541G>C p.A181P Substitution - Missense 11:75430089-75430089 - J33_T COSM3953807 c.1215G>A p.L405L Substitution - coding silent 11:75425552-75425552 - TCGA-D7-A4YU-01 COSM4036733 c.1563+2T>C p.? Unknown 11:75423690-75423690 - DN1401F COSM5961157 c.1737G>C p.Q579H Substitution - Missense 11:75422595-75422595 - CPCG0103-P8 COSM3396046 c.1571G>A p.C524Y Substitution - Missense 11:75422761-75422761 - ESO-137 COSM1255987 c.1686G>C p.Q562H Substitution - Missense 11:75422646-75422646 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.292451 11q13.4

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G IntronicSNV . c.1563+65T>C 11 75134671 CM C G Missense p.Q562H c.1686G>C 11 75133690 ESCA C T Missense p.E544K c.1630G>A 11 75133746 BRCA C T Missense p.R407H c.1220G>A 11 75136592 LUAD C T Missense p.V411M c.1231G>A 11 75136581 BRCA C T Synonymous p.P428P c.1284G>A 11 75136528 ESCA G A Missense p.A484V c.1451C>T 11 75134848 CM G A Missense p.P464L c.1391C>T 11 75134908 CM G A Missense p.R468W c.1402C>T 11 75134897 THCA G T Missense p.R542S c.1624C>A 11 75133752 ESCA T G Synonymous p.L298L c.894A>C 11 75139659 HNSC