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 57319864 57319864 + Silent SNP G G A TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 g.chr11:57319864G>A c.429C>T c.(427-429)ttC>ttT p.F143F BLCA 11 57321943 57321943 + Missense_Mutation SNP C C T TCGA-SY-A9G5-01A-11D-A38G-08 TCGA-SY-A9G5-10A-01D-A38J-08 g.chr11:57321943C>T c.277G>A c.(277-279)Gag>Aag p.E93K BLCA 11 57322055 57322055 + Silent SNP G G A TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 g.chr11:57322055G>A c.165C>T c.(163-165)atC>atT p.I55I BLCA 11 57327878 57327878 + Missense_Mutation SNP G G T TCGA-G2-A2EC-01A-11D-A17V-08 TCGA-G2-A2EC-10A-01D-A17V-08 g.chr11:57327878G>T c.55C>A c.(55-57)Ccc>Acc p.P19T BRCA 11 57321943 57321943 + Missense_Mutation SNP C C G TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr11:57321943C>G c.277G>C c.(277-279)Gag>Cag p.E93Q BRCA 11 57322087 57322087 + Missense_Mutation SNP G G C TCGA-E9-A22E-01A-11D-A159-09 TCGA-E9-A22E-10A-01D-A159-09 g.chr11:57322087G>C c.133C>G c.(133-135)Ccc>Gcc p.P45A BRCA 11 57327816 57327816 + Silent SNP G G A TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr11:57327816G>A c.117C>T c.(115-117)ctC>ctT p.L39L CESC 11 57321968 57321968 + Silent SNP C C T TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 g.chr11:57321968C>T c.252G>A c.(250-252)caG>caA p.Q84Q CHOL 11 57322034 57322034 + Silent SNP C C T TCGA-3X-AAVC-01A-21D-A417-09 TCGA-3X-AAVC-10A-01D-A41A-09 g.chr11:57322034C>T c.186G>A c.(184-186)ccG>ccA p.P62P COAD 11 57319948 57319948 + Silent SNP C C T TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr11:57319948C>T c.345G>A c.(343-345)ccG>ccA p.P115P COAD 11 57321980 57321980 + Silent SNP G G A TCGA-CM-6674-01A-11D-1835-10 TCGA-CM-6674-10A-01D-1835-10 g.chr11:57321980G>A c.240C>T c.(238-240)gaC>gaT p.D80D COADREAD 11 57319948 57319948 + Silent SNP C C T TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr11:57319948C>T c.345G>A c.(343-345)ccG>ccA p.P115P COADREAD 11 57321980 57321980 + Silent SNP G G A TCGA-CM-6674-01A-11D-1835-10 TCGA-CM-6674-10A-01D-1835-10 g.chr11:57321980G>A c.240C>T c.(238-240)gaC>gaT p.D80D ESCA 11 57322082 57322082 + Nonsense_Mutation SNP G G T TCGA-LN-A49R-01A-11D-A247-09 TCGA-LN-A49R-10A-01D-A247-09 g.chr11:57322082G>T c.138C>A c.(136-138)taC>taA p.Y46* GBMLGG 11 57322034 57322034 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr11:57322034C>T c.186G>A c.(184-186)ccG>ccA p.P62P GBMLGG 11 57322047 57322047 + Missense_Mutation SNP G G A TCGA-QH-A6CX-01A-11D-A32B-08 TCGA-QH-A6CX-10A-01D-A329-08 g.chr11:57322047G>A c.173C>T c.(172-174)cCg>cTg p.P58L HNSC 11 57319916 57319916 + Missense_Mutation SNP G G A TCGA-CQ-5334-01A-01D-1683-08 TCGA-CQ-5334-10A-01D-1683-08 g.chr11:57319916G>A c.377C>T c.(376-378)gCt>gTt p.A126V HNSC 11 57327824 57327824 + Missense_Mutation SNP C C T TCGA-BA-5559-01A-01D-1512-08 TCGA-BA-5559-10A-01D-1512-08 g.chr11:57327824C>T c.109G>A c.(109-111)Gct>Act p.A37T LGG 11 57322034 57322034 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr11:57322034C>T c.186G>A c.(184-186)ccG>ccA p.P62P LGG 11 57322047 57322047 + Missense_Mutation SNP G G A TCGA-QH-A6CX-01A-11D-A32B-08 TCGA-QH-A6CX-10A-01D-A329-08 g.chr11:57322047G>A c.173C>T c.(172-174)cCg>cTg p.P58L LIHC 11 57327822 57327822 + Silent SNP A A G TCGA-G3-A3CJ-01A-11D-A20W-10 TCGA-G3-A3CJ-10A-01D-A20W-10 g.chr11:57327822A>G c.111T>C c.(109-111)gcT>gcC p.A37A LUAD 11 57319895 57319895 + Missense_Mutation SNP G G A TCGA-05-4403-01A-01D-1265-08 TCGA-05-4403-10A-01D-1265-08 g.chr11:57319895G>A c.398C>T c.(397-399)cCg>cTg p.P133L LUAD 11 57319948 57319948 + Silent SNP C C T TCGA-69-7974-01A-11D-2184-08 TCGA-69-7974-10A-01D-2184-08 g.chr11:57319948C>T c.345G>A c.(343-345)ccG>ccA p.P115P LUSC 11 57319921 57319921 + Missense_Mutation SNP G G T TCGA-18-3417-01A-01D-1441-08 TCGA-18-3417-11A-01D-1441-08 g.chr11:57319921G>T c.372C>A c.(370-372)gaC>gaA p.D124E LUSC 11 57319960 57319960 + Silent SNP C C A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 g.chr11:57319960C>A c.333G>T c.(331-333)ctG>ctT p.L111L OV 11 57327836 57327836 + Silent SNP G G A TCGA-61-1728-01A-01W-0699-08 TCGA-61-1728-11A-01W-0700-08 g.chr11:57327836G>A c.97C>T c.(97-99)Ctg>Ttg p.L33L SARC 11 57327819 57327819 + Silent SNP G G A TCGA-DX-AB2E-01A-11D-A38Z-09 TCGA-DX-AB2E-10A-01D-A38Z-09 g.chr11:57327819G>A c.114C>T c.(112-114)ctC>ctT p.L38L SKCM 11 57319895 57319895 + Missense_Mutation SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 g.chr11:57319895G>A c.398C>T c.(397-399)cCg>cTg p.P133L SKCM 11 57321973 57321973 + Nonsense_Mutation SNP C C A TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr11:57321973C>A c.247G>T c.(247-249)Gga>Tga p.G83* SKCM 11 57322016 57322016 + Silent SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr11:57322016G>A c.204C>T c.(202-204)atC>atT p.I68I

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 11 57319864 57319864 single base substitution G A downstream_gene_variant BLCA-US 11 57319864 57319864 single base substitution G A exon_variant BLCA-US 11 57319864 57319864 single base substitution G A synonymous_variant F143F 429C>T BLCA-US 11 57319864 57319864 single base substitution G A synonymous_variant F77F 231C>T BLCA-US 11 57327878 57327878 single base substitution G T 5_prime_UTR_variant BLCA-US 11 57327878 57327878 single base substitution G T exon_variant BLCA-US 11 57327878 57327878 single base substitution G T missense_variant P19T 55C>A BLCA-US 11 57327878 57327878 single base substitution G T missense_variant P26T 76C>A BRCA-EU 11 57316317 57316317 single base substitution C T downstream_gene_variant BRCA-EU 11 57316562 57316562 single base substitution G A downstream_gene_variant BRCA-EU 11 57317889 57317889 single base substitution C G downstream_gene_variant BRCA-EU 11 57320862 57320862 single base substitution G T intron_variant BRCA-EU 11 57321246 57321246 single base substitution C G intron_variant BRCA-EU 11 57322055 57322055 single base substitution G A 5_prime_UTR_variant BRCA-EU 11 57322055 57322055 single base substitution G A exon_variant BRCA-EU 11 57322055 57322055 single base substitution G A synonymous_variant I55I 165C>T BRCA-EU 11 57322055 57322055 single base substitution G A synonymous_variant I62I 186C>T BRCA-EU 11 57323586 57323586 single base substitution T G intron_variant BRCA-EU 11 57324251 57324251 single base substitution C G intron_variant BRCA-EU 11 57325100 57325100 single base substitution C T intron_variant BRCA-EU 11 57325110 57325110 single base substitution G T intron_variant BRCA-EU 11 57325227 57325227 single base substitution T C intron_variant BRCA-EU 11 57325666 57325666 single base substitution C A intron_variant BRCA-EU 11 57325667 57325667 single base substitution T A intron_variant BRCA-EU 11 57328982 57328982 single base substitution G T intron_variant BRCA-EU 11 57328982 57328982 single base substitution G T upstream_gene_variant BRCA-EU 11 57329624 57329624 single base substitution G C intron_variant BRCA-EU 11 57329624 57329624 single base substitution G C upstream_gene_variant BRCA-EU 11 57333711 57333711 single base substitution C G intron_variant BRCA-EU 11 57335963 57335963 single base substitution C T upstream_gene_variant BRCA-EU 11 57336271 57336271 single base substitution T C upstream_gene_variant BRCA-EU 11 57336379 57336379 single base substitution G A upstream_gene_variant BRCA-EU 11 57336398 57336398 single base substitution C T upstream_gene_variant BRCA-EU 11 57338189 57338189 single base substitution G A upstream_gene_variant BRCA-EU 11 57338854 57338854 single base substitution A G upstream_gene_variant BRCA-EU 11 57339381 57339381 single base substitution A G upstream_gene_variant BRCA-EU 11 57339523 57339525 deletion of <=200bp AAC - upstream_gene_variant BRCA-FR 11 57329624 57329624 single base substitution G C intron_variant BRCA-FR 11 57329624 57329624 single base substitution G C upstream_gene_variant BRCA-FR 11 57339285 57339285 single base substitution C A upstream_gene_variant BRCA-FR 11 57339287 57339287 single base substitution C A upstream_gene_variant BRCA-UK 11 57335260 57335260 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant BRCA-UK 11 57335260 57335260 single base substitution G A intron_variant BRCA-UK 11 57335260 57335260 single base substitution G A upstream_gene_variant BRCA-US 11 57321943 57321943 single base substitution C G exon_variant BRCA-US 11 57321943 57321943 single base substitution C G missense_variant E100Q 298G>C BRCA-US 11 57321943 57321943 single base substitution C G missense_variant E27Q 79G>C BRCA-US 11 57321943 57321943 single base substitution C G missense_variant E93Q 277G>C BRCA-US 11 57322087 57322087 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant BRCA-US 11 57322087 57322087 single base substitution G C exon_variant BRCA-US 11 57322087 57322087 single base substitution G C missense_variant P45A 133C>G BRCA-US 11 57322087 57322087 single base substitution G C missense_variant P52A 154C>G BRCA-US 11 57327816 57327816 single base substitution G A 5_prime_UTR_variant BRCA-US 11 57327816 57327816 single base substitution G A exon_variant BRCA-US 11 57327816 57327816 single base substitution G A synonymous_variant L39L 117C>T BRCA-US 11 57327816 57327816 single base substitution G A synonymous_variant L46L 138C>T BTCA-JP 11 57322106 57322106 single base substitution G C intron_variant BTCA-JP 11 57334433 57334433 single base substitution T C intron_variant CESC-US 11 57321968 57321968 single base substitution C T exon_variant CESC-US 11 57321968 57321968 single base substitution C T synonymous_variant Q18Q 54G>A CESC-US 11 57321968 57321968 single base substitution C T synonymous_variant Q84Q 252G>A CESC-US 11 57321968 57321968 single base substitution C T synonymous_variant Q91Q 273G>A CESC-US 11 57335082 57335082 single base substitution C G intron_variant CESC-US 11 57335082 57335082 single base substitution C G start_lost M1I 3G>C CESC-US 11 57335082 57335082 single base substitution C G upstream_gene_variant COAD-US 11 57321980 57321980 single base substitution G A exon_variant COAD-US 11 57321980 57321980 single base substitution G A synonymous_variant D14D 42C>T COAD-US 11 57321980 57321980 single base substitution G A synonymous_variant D80D 240C>T COAD-US 11 57321980 57321980 single base substitution G A synonymous_variant D87D 261C>T COCA-CN 11 57319856 57319856 single base substitution C T downstream_gene_variant COCA-CN 11 57319856 57319856 single base substitution C T exon_variant COCA-CN 11 57319856 57319856 single base substitution C T missense_variant R146Q 437G>A COCA-CN 11 57319856 57319856 single base substitution C T missense_variant R80Q 239G>A COCA-CN 11 57319857 57319857 single base substitution G A downstream_gene_variant COCA-CN 11 57319857 57319857 single base substitution G A exon_variant COCA-CN 11 57319857 57319857 single base substitution G A stop_gained R146* 436C>T COCA-CN 11 57319857 57319857 single base substitution G A stop_gained R80* 238C>T COCA-CN 11 57334970 57334970 single base substitution C T intron_variant COCA-CN 11 57334970 57334970 single base substitution C T upstream_gene_variant COCA-CN 11 57335199 57335199 single base substitution T C 5_prime_UTR_variant COCA-CN 11 57335199 57335199 single base substitution T C intron_variant COCA-CN 11 57335199 57335199 single base substitution T C upstream_gene_variant COCA-CN 11 57337860 57337860 single base substitution C T upstream_gene_variant ESAD-UK 11 57316171 57316171 single base substitution T A downstream_gene_variant ESAD-UK 11 57316934 57316934 single base substitution A C downstream_gene_variant ESAD-UK 11 57321285 57321285 single base substitution C T intron_variant ESAD-UK 11 57325231 57325231 single base substitution C G intron_variant ESAD-UK 11 57327104 57327104 single base substitution T C intron_variant ESAD-UK 11 57328949 57328949 single base substitution C T intron_variant ESAD-UK 11 57328949 57328949 single base substitution C T upstream_gene_variant ESAD-UK 11 57330619 57330619 single base substitution A G intron_variant ESAD-UK 11 57330619 57330619 single base substitution A G upstream_gene_variant ESAD-UK 11 57330980 57330980 deletion of <=200bp A - intron_variant ESAD-UK 11 57330980 57330980 deletion of <=200bp A - upstream_gene_variant ESAD-UK 11 57331007 57331007 single base substitution G A intron_variant ESAD-UK 11 57331007 57331007 single base substitution G A upstream_gene_variant ESAD-UK 11 57332032 57332032 single base substitution G A intron_variant ESAD-UK 11 57332032 57332032 single base substitution G A upstream_gene_variant ESAD-UK 11 57338206 57338206 single base substitution G A upstream_gene_variant ESAD-UK 11 57338477 57338477 single base substitution G A upstream_gene_variant ESCA-CN 11 57317640 57317640 single base substitution C T downstream_gene_variant LAML-KR 11 57337461 57337461 single base substitution A G upstream_gene_variant LIHC-US 11 57317551 57317551 single base substitution T G downstream_gene_variant LINC-JP 11 57329354 57329354 single base substitution A C intron_variant LINC-JP 11 57329354 57329354 single base substitution A C upstream_gene_variant LIRI-JP 11 57314897 57314897 single base substitution T C downstream_gene_variant LIRI-JP 11 57315206 57315206 single base substitution G A downstream_gene_variant LIRI-JP 11 57316383 57316383 single base substitution C A downstream_gene_variant LIRI-JP 11 57320133 57320133 single base substitution C T intron_variant LIRI-JP 11 57321323 57321323 single base substitution T A intron_variant LIRI-JP 11 57325457 57325457 single base substitution C G intron_variant LIRI-JP 11 57325607 57325607 single base substitution G A intron_variant LIRI-JP 11 57327717 57327717 single base substitution A T intron_variant LIRI-JP 11 57330026 57330026 single base substitution C T intron_variant LIRI-JP 11 57330026 57330026 single base substitution C T upstream_gene_variant LIRI-JP 11 57331671 57331671 single base substitution C G intron_variant LIRI-JP 11 57331671 57331671 single base substitution C G upstream_gene_variant LIRI-JP 11 57332162 57332162 single base substitution G A intron_variant LIRI-JP 11 57332162 57332162 single base substitution G A upstream_gene_variant LIRI-JP 11 57333312 57333312 single base substitution A C intron_variant LIRI-JP 11 57340285 57340285 single base substitution G A upstream_gene_variant LUSC-KR 11 57315179 57315179 single base substitution G A downstream_gene_variant LUSC-KR 11 57317040 57317040 single base substitution G T downstream_gene_variant LUSC-KR 11 57319189 57319189 single base substitution G A 3_prime_UTR_variant LUSC-KR 11 57319189 57319189 single base substitution G A downstream_gene_variant LUSC-KR 11 57319289 57319289 single base substitution C T 3_prime_UTR_variant LUSC-KR 11 57319289 57319289 single base substitution C T downstream_gene_variant LUSC-KR 11 57322223 57322223 single base substitution T G intron_variant LUSC-KR 11 57326753 57326753 single base substitution G C intron_variant LUSC-KR 11 57326876 57326876 single base substitution G T intron_variant LUSC-KR 11 57338955 57338955 single base substitution G T upstream_gene_variant LUSC-KR 11 57339421 57339421 single base substitution G A upstream_gene_variant LUSC-US 11 57319921 57319921 single base substitution G T downstream_gene_variant LUSC-US 11 57319921 57319921 single base substitution G T exon_variant LUSC-US 11 57319921 57319921 single base substitution G T missense_variant D124E 372C>A LUSC-US 11 57319921 57319921 single base substitution G T missense_variant D58E 174C>A LUSC-US 11 57319960 57319960 single base substitution C A exon_variant LUSC-US 11 57319960 57319960 single base substitution C A synonymous_variant L111L 333G>T LUSC-US 11 57319960 57319960 single base substitution C A synonymous_variant L118L 354G>T LUSC-US 11 57319960 57319960 single base substitution C A synonymous_variant L45L 135G>T MALY-DE 11 57327150 57327150 single base substitution T A intron_variant MALY-DE 11 57335829 57335829 single base substitution T C upstream_gene_variant MELA-AU 11 57314277 57314277 single base substitution G A downstream_gene_variant MELA-AU 11 57314365 57314365 single base substitution G A downstream_gene_variant MELA-AU 11 57314392 57314392 single base substitution G A downstream_gene_variant MELA-AU 11 57314655 57314655 single base substitution G A downstream_gene_variant MELA-AU 11 57314683 57314684 multiple base substitution (>=2bp and <=200bp) GG TA downstream_gene_variant MELA-AU 11 57315098 57315098 single base substitution G A downstream_gene_variant MELA-AU 11 57315111 57315111 single base substitution G A downstream_gene_variant MELA-AU 11 57315609 57315609 single base substitution G A downstream_gene_variant MELA-AU 11 57315909 57315909 single base substitution G A downstream_gene_variant MELA-AU 11 57316192 57316192 single base substitution C T downstream_gene_variant MELA-AU 11 57316634 57316634 single base substitution G A downstream_gene_variant MELA-AU 11 57316689 57316689 single base substitution G A downstream_gene_variant MELA-AU 11 57317086 57317086 single base substitution G A downstream_gene_variant MELA-AU 11 57317222 57317222 single base substitution G A downstream_gene_variant MELA-AU 11 57317296 57317296 single base substitution G A downstream_gene_variant MELA-AU 11 57317337 57317338 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 11 57317389 57317389 single base substitution C T downstream_gene_variant MELA-AU 11 57317653 57317653 single base substitution C T downstream_gene_variant MELA-AU 11 57318500 57318500 single base substitution C T downstream_gene_variant MELA-AU 11 57318600 57318600 single base substitution G A downstream_gene_variant MELA-AU 11 57318890 57318890 insertion of <=200bp - TAAA downstream_gene_variant MELA-AU 11 57318890 57318893 deletion of <=200bp TAAA - downstream_gene_variant MELA-AU 11 57318981 57318981 single base substitution G A downstream_gene_variant MELA-AU 11 57319037 57319037 single base substitution G A downstream_gene_variant MELA-AU 11 57319474 57319474 single base substitution C T 3_prime_UTR_variant MELA-AU 11 57319474 57319474 single base substitution C T downstream_gene_variant MELA-AU 11 57319727 57319727 single base substitution G A 3_prime_UTR_variant MELA-AU 11 57319727 57319727 single base substitution G A downstream_gene_variant MELA-AU 11 57319739 57319739 single base substitution G A 3_prime_UTR_variant MELA-AU 11 57319739 57319739 single base substitution G A downstream_gene_variant MELA-AU 11 57319846 57319846 single base substitution C T downstream_gene_variant MELA-AU 11 57319846 57319846 single base substitution C T exon_variant MELA-AU 11 57319846 57319846 single base substitution C T synonymous_variant V149V 447G>A MELA-AU 11 57319846 57319846 single base substitution C T synonymous_variant V83V 249G>A MELA-AU 11 57320893 57320893 single base substitution G A intron_variant MELA-AU 11 57321451 57321451 single base substitution C T intron_variant MELA-AU 11 57321454 57321454 single base substitution G A intron_variant MELA-AU 11 57321466 57321466 single base substitution G A intron_variant MELA-AU 11 57322049 57322049 single base substitution G A 5_prime_UTR_variant MELA-AU 11 57322049 57322049 single base substitution G A exon_variant MELA-AU 11 57322049 57322049 single base substitution G A synonymous_variant F57F 171C>T MELA-AU 11 57322049 57322049 single base substitution G A synonymous_variant F64F 192C>T MELA-AU 11 57322138 57322138 single base substitution C T intron_variant MELA-AU 11 57322412 57322412 single base substitution C T intron_variant MELA-AU 11 57322427 57322427 single base substitution G A intron_variant MELA-AU 11 57322493 57322493 single base substitution G A intron_variant MELA-AU 11 57322724 57322724 single base substitution G A intron_variant MELA-AU 11 57322725 57322725 single base substitution G A intron_variant MELA-AU 11 57322728 57322728 single base substitution C A intron_variant MELA-AU 11 57322781 57322781 single base substitution G A intron_variant MELA-AU 11 57322960 57322960 single base substitution G A intron_variant MELA-AU 11 57323633 57323634 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 11 57323877 57323877 single base substitution G A intron_variant MELA-AU 11 57323889 57323889 single base substitution C A intron_variant MELA-AU 11 57324272 57324272 single base substitution C T intron_variant MELA-AU 11 57324482 57324482 single base substitution C T intron_variant MELA-AU 11 57324576 57324576 single base substitution G A intron_variant MELA-AU 11 57324662 57324662 single base substitution C T intron_variant MELA-AU 11 57324727 57324727 single base substitution G A intron_variant MELA-AU 11 57325264 57325264 single base substitution G A intron_variant MELA-AU 11 57325436 57325436 single base substitution C T intron_variant MELA-AU 11 57325661 57325661 single base substitution C T intron_variant MELA-AU 11 57326358 57326358 single base substitution C T intron_variant MELA-AU 11 57326407 57326407 single base substitution G A intron_variant MELA-AU 11 57326502 57326502 single base substitution G A intron_variant MELA-AU 11 57326515 57326515 single base substitution G A intron_variant MELA-AU 11 57326563 57326563 single base substitution G A intron_variant MELA-AU 11 57326657 57326657 single base substitution C T intron_variant MELA-AU 11 57326857 57326857 single base substitution G A intron_variant MELA-AU 11 57326876 57326876 single base substitution G A intron_variant MELA-AU 11 57327243 57327243 single base substitution G A intron_variant MELA-AU 11 57327473 57327473 single base substitution C T intron_variant MELA-AU 11 57328274 57328274 single base substitution T C intron_variant MELA-AU 11 57328274 57328274 single base substitution T C upstream_gene_variant MELA-AU 11 57328468 57328468 single base substitution G A intron_variant MELA-AU 11 57328468 57328468 single base substitution G A upstream_gene_variant MELA-AU 11 57328533 57328533 single base substitution C A intron_variant MELA-AU 11 57328533 57328533 single base substitution C A upstream_gene_variant MELA-AU 11 57328599 57328599 single base substitution C T intron_variant MELA-AU 11 57328599 57328599 single base substitution C T upstream_gene_variant MELA-AU 11 57328753 57328753 single base substitution G A intron_variant MELA-AU 11 57328753 57328753 single base substitution G A upstream_gene_variant MELA-AU 11 57329327 57329327 single base substitution G A intron_variant MELA-AU 11 57329327 57329327 single base substitution G A upstream_gene_variant MELA-AU 11 57329381 57329382 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 11 57329381 57329382 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 11 57330896 57330896 single base substitution G A intron_variant MELA-AU 11 57330896 57330896 single base substitution G A upstream_gene_variant MELA-AU 11 57331857 57331857 single base substitution G A intron_variant MELA-AU 11 57331857 57331857 single base substitution G A upstream_gene_variant MELA-AU 11 57331939 57331939 single base substitution G A intron_variant MELA-AU 11 57331939 57331939 single base substitution G A upstream_gene_variant MELA-AU 11 57332727 57332727 single base substitution G A intron_variant MELA-AU 11 57332727 57332727 single base substitution G A upstream_gene_variant MELA-AU 11 57332841 57332841 single base substitution T G intron_variant MELA-AU 11 57332841 57332841 single base substitution T G upstream_gene_variant MELA-AU 11 57332992 57332992 single base substitution C T intron_variant MELA-AU 11 57333134 57333134 single base substitution G A intron_variant MELA-AU 11 57333179 57333179 single base substitution G T intron_variant MELA-AU 11 57333648 57333648 single base substitution G A intron_variant MELA-AU 11 57334187 57334187 single base substitution C T intron_variant MELA-AU 11 57335383 57335383 single base substitution C T 5_prime_UTR_variant MELA-AU 11 57335383 57335383 single base substitution C T upstream_gene_variant MELA-AU 11 57335949 57335949 single base substitution C T upstream_gene_variant MELA-AU 11 57336072 57336072 single base substitution A G upstream_gene_variant MELA-AU 11 57336159 57336159 single base substitution C T upstream_gene_variant MELA-AU 11 57336636 57336636 single base substitution G A upstream_gene_variant MELA-AU 11 57336809 57336809 single base substitution C T upstream_gene_variant MELA-AU 11 57336914 57336914 single base substitution C T upstream_gene_variant MELA-AU 11 57337046 57337046 single base substitution G A upstream_gene_variant MELA-AU 11 57337254 57337254 single base substitution G A upstream_gene_variant MELA-AU 11 57337255 57337255 single base substitution G A upstream_gene_variant MELA-AU 11 57337313 57337313 single base substitution G C upstream_gene_variant MELA-AU 11 57337328 57337328 single base substitution C T upstream_gene_variant MELA-AU 11 57337558 57337558 single base substitution C T upstream_gene_variant MELA-AU 11 57337786 57337786 single base substitution G A upstream_gene_variant MELA-AU 11 57337870 57337870 single base substitution C T upstream_gene_variant MELA-AU 11 57337976 57337976 single base substitution G C upstream_gene_variant MELA-AU 11 57338303 57338303 single base substitution C T upstream_gene_variant MELA-AU 11 57338384 57338384 single base substitution C T upstream_gene_variant MELA-AU 11 57338445 57338445 single base substitution G A upstream_gene_variant MELA-AU 11 57339362 57339362 single base substitution G A upstream_gene_variant MELA-AU 11 57339473 57339473 single base substitution C T upstream_gene_variant MELA-AU 11 57339835 57339835 single base substitution C T upstream_gene_variant MELA-AU 11 57340568 57340568 single base substitution C T upstream_gene_variant MELA-AU 11 57340613 57340613 single base substitution G A upstream_gene_variant MELA-AU 11 57340750 57340750 single base substitution G A upstream_gene_variant ORCA-IN 11 57315822 57315822 deletion of <=200bp T - downstream_gene_variant ORCA-IN 11 57317555 57317555 single base substitution G A downstream_gene_variant ORCA-IN 11 57322443 57322443 single base substitution G C intron_variant ORCA-IN 11 57331323 57331323 single base substitution C T intron_variant ORCA-IN 11 57331323 57331323 single base substitution C T upstream_gene_variant OV-AU 11 57316077 57316077 single base substitution A T downstream_gene_variant OV-AU 11 57316483 57316483 single base substitution T A downstream_gene_variant OV-AU 11 57316484 57316484 single base substitution C A downstream_gene_variant OV-AU 11 57317509 57317509 single base substitution A C downstream_gene_variant OV-AU 11 57318103 57318103 single base substitution A G downstream_gene_variant OV-AU 11 57319303 57319303 single base substitution G C 3_prime_UTR_variant OV-AU 11 57319303 57319303 single base substitution G C downstream_gene_variant OV-AU 11 57323550 57323550 single base substitution C A intron_variant OV-AU 11 57331790 57331790 single base substitution C T intron_variant OV-AU 11 57331790 57331790 single base substitution C T upstream_gene_variant OV-AU 11 57332208 57332208 single base substitution G A intron_variant OV-AU 11 57332208 57332208 single base substitution G A upstream_gene_variant OV-AU 11 57336942 57336942 single base substitution G A upstream_gene_variant OV-AU 11 57337548 57337548 single base substitution C A upstream_gene_variant OV-AU 11 57337549 57337549 single base substitution C G upstream_gene_variant OV-AU 11 57338441 57338441 single base substitution C A upstream_gene_variant OV-AU 11 57338782 57338782 single base substitution G C upstream_gene_variant OV-AU 11 57338893 57338893 single base substitution G T upstream_gene_variant PACA-AU 11 57315502 57315502 single base substitution C T downstream_gene_variant PACA-AU 11 57318890 57318893 deletion of <=200bp TAAA - downstream_gene_variant PACA-AU 11 57324871 57324871 single base substitution T C intron_variant PACA-AU 11 57324929 57324929 single base substitution G A intron_variant PACA-AU 11 57328433 57328433 single base substitution C T intron_variant PACA-AU 11 57328433 57328433 single base substitution C T upstream_gene_variant PACA-AU 11 57328958 57328958 single base substitution A G intron_variant PACA-AU 11 57328958 57328958 single base substitution A G upstream_gene_variant PACA-AU 11 57329813 57329813 single base substitution C T intron_variant PACA-AU 11 57329813 57329813 single base substitution C T upstream_gene_variant PACA-CA 11 57318141 57318141 single base substitution C T downstream_gene_variant PACA-CA 11 57320238 57320238 single base substitution G A intron_variant PACA-CA 11 57321214 57321214 single base substitution G A intron_variant PACA-CA 11 57321629 57321629 deletion of <=200bp C - intron_variant PACA-CA 11 57323226 57323226 single base substitution T A intron_variant PACA-CA 11 57323741 57323741 single base substitution C T intron_variant PACA-CA 11 57331515 57331515 single base substitution G A intron_variant PACA-CA 11 57331515 57331515 single base substitution G A upstream_gene_variant PACA-CA 11 57338097 57338097 single base substitution G A upstream_gene_variant PAEN-AU 11 57318890 57318897 deletion of <=200bp TAAATAAA - downstream_gene_variant PAEN-IT 11 57317552 57317552 single base substitution G A downstream_gene_variant PBCA-DE 11 57337223 57337223 single base substitution G A upstream_gene_variant PBCA-DE 11 57339277 57339278 deletion of <=200bp CA - upstream_gene_variant PBCA-DE 11 57339353 57339353 single base substitution G C upstream_gene_variant PRAD-CA 11 57321999 57321999 single base substitution A T exon_variant PRAD-CA 11 57321999 57321999 single base substitution A T missense_variant I74N 221T>A PRAD-CA 11 57321999 57321999 single base substitution A T missense_variant I81N 242T>A PRAD-CA 11 57321999 57321999 single base substitution A T missense_variant I8N 23T>A PRAD-CA 11 57330225 57330225 single base substitution G A intron_variant PRAD-CA 11 57330225 57330225 single base substitution G A upstream_gene_variant PRAD-UK 11 57322846 57322846 single base substitution A T intron_variant PRAD-UK 11 57331642 57331642 single base substitution G A intron_variant PRAD-UK 11 57331642 57331642 single base substitution G A upstream_gene_variant PRAD-UK 11 57337411 57337411 single base substitution C T upstream_gene_variant RECA-EU 11 57317392 57317392 single base substitution A G downstream_gene_variant RECA-EU 11 57332189 57332189 single base substitution T G intron_variant RECA-EU 11 57332189 57332189 single base substitution T G upstream_gene_variant RECA-EU 11 57332839 57332839 single base substitution T G intron_variant RECA-EU 11 57332839 57332839 single base substitution T G upstream_gene_variant RECA-EU 11 57339408 57339408 single base substitution A T upstream_gene_variant SKCA-BR 11 57318496 57318496 single base substitution A C downstream_gene_variant SKCA-BR 11 57318818 57318818 single base substitution G A downstream_gene_variant SKCA-BR 11 57318955 57318955 single base substitution G A downstream_gene_variant SKCA-BR 11 57320616 57320616 single base substitution G A intron_variant SKCA-BR 11 57320878 57320878 single base substitution G A intron_variant SKCA-BR 11 57323858 57323858 single base substitution G A intron_variant SKCA-BR 11 57324848 57324848 single base substitution G A intron_variant SKCA-BR 11 57325537 57325537 single base substitution G A intron_variant SKCA-BR 11 57326873 57326873 single base substitution C A intron_variant SKCA-BR 11 57327567 57327567 single base substitution C T intron_variant SKCA-BR 11 57328096 57328097 deletion of <=200bp CT - intron_variant SKCA-BR 11 57328096 57328097 deletion of <=200bp CT - upstream_gene_variant SKCA-BR 11 57330767 57330767 single base substitution A G intron_variant SKCA-BR 11 57330767 57330767 single base substitution A G upstream_gene_variant SKCA-BR 11 57330954 57330955 deletion of <=200bp CA - intron_variant SKCA-BR 11 57330954 57330955 deletion of <=200bp CA - upstream_gene_variant SKCA-BR 11 57331208 57331209 deletion of <=200bp CA - intron_variant SKCA-BR 11 57331208 57331209 deletion of <=200bp CA - upstream_gene_variant SKCA-BR 11 57331872 57331872 single base substitution T C intron_variant SKCA-BR 11 57331872 57331872 single base substitution T C upstream_gene_variant SKCA-BR 11 57332829 57332829 insertion of <=200bp - GT intron_variant SKCA-BR 11 57332829 57332829 insertion of <=200bp - GT upstream_gene_variant SKCA-BR 11 57333265 57333265 single base substitution G A intron_variant SKCA-BR 11 57335175 57335175 single base substitution A C 5_prime_UTR_variant SKCA-BR 11 57335175 57335175 single base substitution A C intron_variant SKCA-BR 11 57335175 57335175 single base substitution A C upstream_gene_variant SKCA-BR 11 57336416 57336416 single base substitution A T upstream_gene_variant SKCA-BR 11 57337785 57337785 single base substitution C T upstream_gene_variant SKCM-US 11 57317475 57317475 single base substitution G A downstream_gene_variant SKCM-US 11 57317531 57317531 single base substitution G A downstream_gene_variant SKCM-US 11 57317578 57317578 single base substitution A T downstream_gene_variant SKCM-US 11 57319895 57319895 single base substitution G A downstream_gene_variant SKCM-US 11 57319895 57319895 single base substitution G A exon_variant SKCM-US 11 57319895 57319895 single base substitution G A missense_variant P133L 398C>T SKCM-US 11 57319895 57319895 single base substitution G A missense_variant P67L 200C>T SKCM-US 11 57322016 57322016 single base substitution G A exon_variant SKCM-US 11 57322016 57322016 single base substitution G A synonymous_variant I2I 6C>T SKCM-US 11 57322016 57322016 single base substitution G A synonymous_variant I68I 204C>T SKCM-US 11 57322016 57322016 single base substitution G A synonymous_variant I75I 225C>T STAD-US 11 57319863 57319863 single base substitution T C downstream_gene_variant STAD-US 11 57319863 57319863 single base substitution T C exon_variant STAD-US 11 57319863 57319863 single base substitution T C missense_variant T144A 430A>G STAD-US 11 57319863 57319863 single base substitution T C missense_variant T78A 232A>G UCEC-US 11 57319963 57319963 single base substitution C A exon_variant UCEC-US 11 57319963 57319963 single base substitution C A synonymous_variant V110V 330G>T UCEC-US 11 57319963 57319963 single base substitution C A synonymous_variant V117V 351G>T UCEC-US 11 57319963 57319963 single base substitution C A synonymous_variant V44V 132G>T UCEC-US 11 57321910 57321910 single base substitution C A missense_variant V104F 310G>T UCEC-US 11 57321910 57321910 single base substitution C A missense_variant V111F 331G>T UCEC-US 11 57321910 57321910 single base substitution C A missense_variant V38F 112G>T UCEC-US 11 57321910 57321910 single base substitution C A splice_region_variant UCEC-US 11 57322066 57322066 single base substitution T C 5_prime_UTR_variant UCEC-US 11 57322066 57322066 single base substitution T C exon_variant UCEC-US 11 57322066 57322066 single base substitution T C missense_variant N52D 154A>G UCEC-US 11 57322066 57322066 single base substitution T C missense_variant N59D 175A>G UCEC-US 11 57327885 57327885 single base substitution C A 5_prime_UTR_variant UCEC-US 11 57327885 57327885 single base substitution C A exon_variant UCEC-US 11 57327885 57327885 single base substitution C A missense_variant K16N 48G>T UCEC-US 11 57327885 57327885 single base substitution C A missense_variant K23N 69G>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand 345954 COSM3726298 c.67C>A p.R23R Substitution - coding silent 11:57560393-57560393 - SWE-20 COSM1179049 c.94G>A p.V32I Substitution - Missense 11:57560366-57560366 - TCGA-Q1-A73O-01 COSM4834448 c.3G>C p.M1I Substitution - Missense 11:57567609-57567609 - CCK81 COSM4197518 c.235G>A p.V79M Substitution - Missense 11:57554512-57554512 - TCGA-AC-A23H-01 COSM3809583 c.117C>T p.L39L Substitution - coding silent 11:57560343-57560343 - sysucc-1317T COSM4989341 c.437G>A p.R146Q Substitution - Missense 11:57552383-57552383 - TCGA-AX-A0J0-01 COSM928653 c.154A>G p.N52D Substitution - Missense 11:57554593-57554593 - T3152 COSM4334146 c.59delC p.P20fs*29 Deletion - Frameshift 11:57560401-57560401 - 18195 COSM1298210 c.429C>T p.F143F Substitution - coding silent 11:57552391-57552391 - TCGA-BS-A0UF-01 COSM928654 c.48G>T p.K16N Substitution - Missense 11:57560412-57560412 - SJHGG066_A COSM4971282 c.77_80delCCAG p.S27fs*21 Deletion - Frameshift 11:57560380-57560383 - YULAN COSM1704020 c.397C>T p.P133S Substitution - Missense 11:57552423-57552423 - ESO-164 COSM1269623 c.441C>T p.F147F Substitution - coding silent 11:57552379-57552379 - TCGA-CM-6674-01 COSM1354790 c.240C>T p.D80D Substitution - coding silent 11:57554507-57554507 - S00050 COSM5657039 c.421G>T p.E141* Substitution - Nonsense 11:57552399-57552399 - C086 COSM5541262 c.248G>A p.G83E Substitution - Missense 11:57554499-57554499 - TCGA-E5-A2PC-01 COSM1298210 c.429C>T p.F143F Substitution - coding silent 11:57552391-57552391 - TCGA-CG-5721-01 COSM4034075 c.430A>G p.T144A Substitution - Missense 11:57552390-57552390 - T3446 COSM4738687 c.272G>A p.S91N Substitution - Missense 11:57554475-57554475 - T3091 COSM4738686 c.419C>T p.A140V Substitution - Missense 11:57552401-57552401 - T25 COSM5618218 c.124G>A p.D42N Substitution - Missense 11:57554623-57554623 - CPCG0094-F1 COSM4879811 c.221T>A p.I74N Substitution - Missense 11:57554526-57554526 - TCGA-B5-A0JY-01 COSM928651 c.330G>T p.V110V Substitution - coding silent 11:57552490-57552490 - Pat_45_B COSM5541262 c.248G>A p.G83E Substitution - Missense 11:57554499-57554499 - SCMC_RM2_ COSM4989341 c.437G>A p.R146Q Substitution - Missense 11:57552383-57552383 - TCGA-61-1728-01 COSM80717 c.97C>T p.L33L Substitution - coding silent 11:57560363-57560363 - TCGA-JX-A3Q0-01 COSM4824680 c.252G>A p.Q84Q Substitution - coding silent 11:57554495-57554495 - Pat_41_B COSM5838836 c.200T>C p.M67T Substitution - Missense 11:57554547-57554547 - LUAD-S01331 COSM396387 c.344C>T p.P115L Substitution - Missense 11:57552476-57552476 - U2940 COSM5622097 c.131C>T p.P44L Substitution - Missense 11:57554616-57554616 - BD220T COSM5495622 c.124-10C>G p.? Unknown 11:57554633-57554633 - CSCC-6-T COSM4197511 c.436C>T p.R146* Substitution - Nonsense 11:57552384-57552384 - TCGA-G2-A2EC-01 COSM1298211 c.55C>A p.P19T Substitution - Missense 11:57560405-57560405 - TCGA-18-3417-01 COSM688388 c.372C>A p.D124E Substitution - Missense 11:57552448-57552448 - TCGA-E9-A22E-01 COSM1475567 c.133C>G p.P45A Substitution - Missense 11:57554614-57554614 - sysucc-1370T COSM4197511 c.436C>T p.R146* Substitution - Nonsense 11:57552384-57552384 - TCGA-D3-A2J8-06 COSM543889 c.398C>T p.P133L Substitution - Missense 11:57552422-57552422 - ESCC_11 COSM5624196 c.123+1G>T p.? Unknown 11:57560336-57560336 - TCGA-AC-A23H-01 COSM3809582 c.277G>C p.E93Q Substitution - Missense 11:57554470-57554470 - TCGA-46-3765-01 COSM688387 c.333G>T p.L111L Substitution - coding silent 11:57552487-57552487 - 2_PRE-TREATMENT COSM1722900 c.69G>A p.R23R Substitution - coding silent 11:57560391-57560391 - 2_RESISTANT COSM1722900 c.69G>A p.R23R Substitution - coding silent 11:57560391-57560391 - T3225 COSM4738688 c.67C>T p.R23W Substitution - Missense 11:57560393-57560393 - TCGA-EE-A2MR-06 COSM3449750 c.204C>T p.I68I Substitution - coding silent 11:57554543-57554543 - TCGA-AP-A051-01 COSM928652 c.310G>T p.V104F Substitution - Missense 11:57554437-57554437 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.425777 11q12 603890 2412958|CGAP|BC032491|A/T|non-coding||1050|Candidate; 2412960|CGAP|BC032491|A/G|non-coding||1049|Validated; 2412963|CGAP|BC032491|C/T|non-coding||1244|Candidate; 2422566|dbSNP|BC032491|C/T|coding|Gln43end|222|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer C A Nonsense p.G83* c.247G>T 11 57321973 CM C A Synonymous p.L111L c.333G>T 11 57319960 LUSC C T IntronicSNV . c.28-41G>A 11 57327946 CM G A IntronicSNV . c.28-9C>T 11 57327914 CM G A Missense p.A126V c.377C>T 11 57319916 HNSC G A Missense p.P133L c.398C>T 11 57319895 CM G A Missense p.P133L c.398C>T 11 57319895 LUAD G A Synonymous p.F143F c.429C>T 11 57319864 BLCA G A Synonymous p.F147F c.441C>T 11 57319852 ESCA G A Synonymous p.L33L c.97C>T 11 57327836 OV G C Missense p.P45A c.133C>G 11 57322087 BRCA G T Missense p.D124E c.372C>A 11 57319921 LUSC G T Missense p.P19T c.55C>A 11 57327878 BLCA