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 3 57312500 57312500 + Missense_Mutation SNP C C G TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 g.chr3:57312500C>G c.1336G>C c.(1336-1338)Gac>Cac p.D446H BLCA 3 57312522 57312522 + Silent SNP C C T TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 g.chr3:57312522C>T c.1314G>A c.(1312-1314)agG>agA p.R438R BRCA 3 57311899 57311899 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr3:57311899A>C c.1481T>G c.(1480-1482)gTt>gGt p.V494G BRCA 3 57321935 57321935 + Missense_Mutation SNP G G A TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr3:57321935G>A c.466C>T c.(466-468)Ctt>Ttt p.L156F COAD 3 57310648 57310648 + Missense_Mutation SNP C C T TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr3:57310648C>T c.1694G>A c.(1693-1695)cGt>cAt p.R565H COAD 3 57310726 57310726 + Missense_Mutation SNP C C T TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr3:57310726C>T c.1616G>A c.(1615-1617)cGc>cAc p.R539H COAD 3 57311795 57311795 + Splice_Site SNP T T C TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr3:57311795T>C c.1585A>G c.(1585-1587)Aca>Gca p.T529A COAD 3 57312503 57312503 + Missense_Mutation SNP A A G TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr3:57312503A>G c.1333T>C c.(1333-1335)Tat>Cat p.Y445H COAD 3 57312577 57312577 + Missense_Mutation SNP G G T TCGA-AD-6965-01A-11D-1924-10 TCGA-AD-6965-10A-01D-1924-10 g.chr3:57312577G>T c.1259C>A c.(1258-1260)cCt>cAt p.P420H COADREAD 3 57310648 57310648 + Missense_Mutation SNP C C T TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr3:57310648C>T c.1694G>A c.(1693-1695)cGt>cAt p.R565H COADREAD 3 57310726 57310726 + Missense_Mutation SNP C C T TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr3:57310726C>T c.1616G>A c.(1615-1617)cGc>cAc p.R539H COADREAD 3 57311795 57311795 + Splice_Site SNP T T C TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr3:57311795T>C c.1585A>G c.(1585-1587)Aca>Gca p.T529A COADREAD 3 57312503 57312503 + Missense_Mutation SNP A A G TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr3:57312503A>G c.1333T>C c.(1333-1335)Tat>Cat p.Y445H COADREAD 3 57312577 57312577 + Missense_Mutation SNP G G T TCGA-AD-6965-01A-11D-1924-10 TCGA-AD-6965-10A-01D-1924-10 g.chr3:57312577G>T c.1259C>A c.(1258-1260)cCt>cAt p.P420H COADREAD 3 57312659 57312659 + Missense_Mutation SNP C C A TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr3:57312659C>A c.1177G>T c.(1177-1179)Gcc>Tcc p.A393S ESCA 3 57317227 57317227 + Missense_Mutation SNP C C T TCGA-V5-A7RB-01A-11D-A351-09 TCGA-V5-A7RB-10A-01D-A351-09 g.chr3:57317227C>T c.713G>A c.(712-714)cGg>cAg p.R238Q LUAD 3 57310740 57310740 + Silent SNP T T A TCGA-55-8089-01A-11D-2238-08 TCGA-55-8089-10A-01D-2238-08 g.chr3:57310740T>A c.1602A>T c.(1600-1602)ctA>ctT p.L534L LUAD 3 57311911 57311911 + Missense_Mutation SNP A A T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 g.chr3:57311911A>T c.1469T>A c.(1468-1470)cTc>cAc p.L490H PRAD 3 57312473 57312473 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr3:57312473G>A c.1363C>T c.(1363-1365)Cat>Tat p.H455Y READ 3 57312659 57312659 + Missense_Mutation SNP C C A TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr3:57312659C>A c.1177G>T c.(1177-1179)Gcc>Tcc p.A393S SKCM 3 57312513 57312513 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr3:57312513C>T c.1323G>A c.(1321-1323)ctG>ctA p.L441L

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 3 57312522 57312522 single base substitution C T exon_variant BLCA-US 3 57312522 57312522 single base substitution C T synonymous_variant R438R 1314G>A BRCA-EU 3 57298779 57298779 single base substitution T G downstream_gene_variant BRCA-EU 3 57303450 57303450 single base substitution A G 3_prime_UTR_variant BRCA-EU 3 57304378 57304378 single base substitution G A intron_variant BRCA-EU 3 57305169 57305170 deletion of <=200bp TC - intron_variant BRCA-EU 3 57305662 57305662 single base substitution G A downstream_gene_variant BRCA-EU 3 57305662 57305662 single base substitution G A intron_variant BRCA-EU 3 57306223 57306223 single base substitution G C downstream_gene_variant BRCA-EU 3 57306223 57306223 single base substitution G C intron_variant BRCA-EU 3 57306293 57306293 single base substitution A T downstream_gene_variant BRCA-EU 3 57306293 57306293 single base substitution A T intron_variant BRCA-EU 3 57306294 57306294 single base substitution A T downstream_gene_variant BRCA-EU 3 57306294 57306294 single base substitution A T intron_variant BRCA-EU 3 57306627 57306627 deletion of <=200bp A - downstream_gene_variant BRCA-EU 3 57306627 57306627 deletion of <=200bp A - intron_variant BRCA-EU 3 57307149 57307149 single base substitution C T downstream_gene_variant BRCA-EU 3 57307149 57307149 single base substitution C T intron_variant BRCA-EU 3 57307378 57307378 deletion of <=200bp A - downstream_gene_variant BRCA-EU 3 57307378 57307378 deletion of <=200bp A - intron_variant BRCA-EU 3 57309530 57309530 single base substitution T G downstream_gene_variant BRCA-EU 3 57309530 57309530 single base substitution T G intron_variant BRCA-EU 3 57310796 57310796 deletion of <=200bp T - intron_variant BRCA-EU 3 57313580 57313580 single base substitution A G intron_variant BRCA-EU 3 57313580 57313580 single base substitution A G upstream_gene_variant BRCA-EU 3 57315095 57315095 insertion of <=200bp - A intron_variant BRCA-EU 3 57315095 57315095 insertion of <=200bp - A upstream_gene_variant BRCA-EU 3 57316226 57316226 single base substitution G A intron_variant BRCA-EU 3 57316226 57316226 single base substitution G A upstream_gene_variant BRCA-EU 3 57322724 57322724 single base substitution A G intron_variant BRCA-EU 3 57326980 57326980 single base substitution G A upstream_gene_variant BRCA-EU 3 57330291 57330291 deletion of <=200bp T - upstream_gene_variant BRCA-EU 3 57330564 57330564 single base substitution A G upstream_gene_variant BRCA-FR 3 57298904 57298904 single base substitution T C downstream_gene_variant BRCA-FR 3 57304378 57304378 single base substitution G A intron_variant BRCA-FR 3 57306223 57306223 single base substitution G C downstream_gene_variant BRCA-FR 3 57306223 57306223 single base substitution G C intron_variant BRCA-FR 3 57306829 57306829 single base substitution G A downstream_gene_variant BRCA-FR 3 57306829 57306829 single base substitution G A intron_variant BRCA-FR 3 57331568 57331568 single base substitution G C upstream_gene_variant BRCA-UK 3 57313627 57313627 single base substitution G A intron_variant BRCA-UK 3 57313627 57313627 single base substitution G A upstream_gene_variant BRCA-US 3 57303610 57303610 single base substitution A T 3_prime_UTR_variant BRCA-US 3 57311899 57311899 single base substitution A C exon_variant BRCA-US 3 57311899 57311899 single base substitution A C missense_variant V494G 1481T>G BRCA-US 3 57321935 57321935 single base substitution G A missense_variant L155F 463C>T BRCA-US 3 57321935 57321935 single base substitution G A missense_variant L156F 466C>T BRCA-US 3 57327764 57327764 deletion of <=200bp T - upstream_gene_variant BRCA-US 3 57330424 57330424 single base substitution C G upstream_gene_variant BTCA-JP 3 57302429 57302429 single base substitution C T 3_prime_UTR_variant BTCA-JP 3 57310796 57310796 deletion of <=200bp T - intron_variant BTCA-JP 3 57312333 57312333 deletion of <=200bp T - intron_variant BTCA-JP 3 57317153 57317153 single base substitution T A intron_variant BTCA-JP 3 57317153 57317153 single base substitution T A upstream_gene_variant BTCA-JP 3 57317372 57317372 single base substitution C T missense_variant E189K 565G>A BTCA-JP 3 57317372 57317372 single base substitution C T missense_variant E190K 568G>A BTCA-JP 3 57317372 57317372 single base substitution C T upstream_gene_variant BTCA-JP 3 57330291 57330291 deletion of <=200bp T - upstream_gene_variant BTCA-JP 3 57330410 57330410 single base substitution G A upstream_gene_variant CLLE-ES 3 57313149 57313149 single base substitution A G intron_variant CLLE-ES 3 57313149 57313149 single base substitution A G upstream_gene_variant CLLE-ES 3 57313151 57313151 single base substitution A G intron_variant CLLE-ES 3 57313151 57313151 single base substitution A G upstream_gene_variant CLLE-ES 3 57313303 57313303 single base substitution T A intron_variant CLLE-ES 3 57313303 57313303 single base substitution T A upstream_gene_variant CLLE-ES 3 57328866 57328866 single base substitution C T upstream_gene_variant COAD-US 3 57303658 57303658 single base substitution C T intron_variant COAD-US 3 57310648 57310648 single base substitution C T exon_variant COAD-US 3 57310648 57310648 single base substitution C T missense_variant R565H 1694G>A COAD-US 3 57310726 57310726 single base substitution C T exon_variant COAD-US 3 57310726 57310726 single base substitution C T missense_variant R539H 1616G>A COAD-US 3 57311795 57311795 single base substitution T C missense_variant T529A 1585A>G COAD-US 3 57311795 57311795 single base substitution T C splice_region_variant COAD-US 3 57312577 57312577 single base substitution G T exon_variant COAD-US 3 57312577 57312577 single base substitution G T missense_variant P420H 1259C>A COAD-US 3 57327990 57327990 single base substitution G T upstream_gene_variant COAD-US 3 57329567 57329567 single base substitution A G upstream_gene_variant COAD-US 3 57329622 57329622 single base substitution T C upstream_gene_variant COAD-US 3 57330449 57330449 single base substitution A G upstream_gene_variant COCA-CN 3 57302403 57302403 single base substitution A C 3_prime_UTR_variant COCA-CN 3 57313004 57313004 single base substitution T C intron_variant COCA-CN 3 57313004 57313004 single base substitution T C upstream_gene_variant COCA-CN 3 57317295 57317295 single base substitution C T synonymous_variant T214T 642G>A COCA-CN 3 57317295 57317295 single base substitution C T synonymous_variant T215T 645G>A COCA-CN 3 57317295 57317295 single base substitution C T upstream_gene_variant COCA-CN 3 57322126 57322126 single base substitution G A intron_variant COCA-CN 3 57323168 57323168 single base substitution A G intron_variant COCA-CN 3 57326127 57326127 single base substitution G T 5_prime_UTR_variant COCA-CN 3 57329550 57329550 single base substitution T C upstream_gene_variant EOPC-DE 3 57315370 57315370 single base substitution G C intron_variant EOPC-DE 3 57315370 57315370 single base substitution G C upstream_gene_variant ESAD-UK 3 57297797 57297797 single base substitution T G downstream_gene_variant ESAD-UK 3 57299106 57299106 single base substitution G C downstream_gene_variant ESAD-UK 3 57301415 57301415 single base substitution G A downstream_gene_variant ESAD-UK 3 57301651 57301651 single base substitution T A downstream_gene_variant ESAD-UK 3 57303144 57303144 single base substitution G A 3_prime_UTR_variant ESAD-UK 3 57303851 57303851 single base substitution A G intron_variant ESAD-UK 3 57304748 57304748 single base substitution C A intron_variant ESAD-UK 3 57306058 57306058 single base substitution C T downstream_gene_variant ESAD-UK 3 57306058 57306058 single base substitution C T intron_variant ESAD-UK 3 57307751 57307751 single base substitution T C downstream_gene_variant ESAD-UK 3 57307751 57307751 single base substitution T C intron_variant ESAD-UK 3 57308772 57308772 single base substitution G A downstream_gene_variant ESAD-UK 3 57308772 57308772 single base substitution G A intron_variant ESAD-UK 3 57315504 57315504 single base substitution A T intron_variant ESAD-UK 3 57315504 57315504 single base substitution A T upstream_gene_variant ESAD-UK 3 57318093 57318093 single base substitution T C intron_variant ESAD-UK 3 57318151 57318151 insertion of <=200bp - TA intron_variant ESAD-UK 3 57318913 57318914 deletion of <=200bp CC - intron_variant ESAD-UK 3 57319314 57319314 single base substitution T G intron_variant ESAD-UK 3 57322462 57322462 single base substitution G A intron_variant ESAD-UK 3 57326298 57326298 single base substitution G A intron_variant ESAD-UK 3 57326429 57326429 single base substitution T G intron_variant ESAD-UK 3 57328423 57328423 single base substitution T C upstream_gene_variant ESAD-UK 3 57331528 57331528 single base substitution C T upstream_gene_variant ESCA-CN 3 57328003 57328003 single base substitution G A upstream_gene_variant GBM-US 3 57302493 57302493 single base substitution A G 3_prime_UTR_variant LAML-KR 3 57321795 57321795 single base substitution T A intron_variant LAML-KR 3 57322049 57322049 single base substitution C A missense_variant G117C 349G>T LAML-KR 3 57322049 57322049 single base substitution C A missense_variant G118C 352G>T LAML-KR 3 57331402 57331402 single base substitution G T upstream_gene_variant LGG-US 3 57302495 57302498 deletion of <=200bp AAAC - 3_prime_UTR_variant LICA-CN 3 57330373 57330373 single base substitution T G upstream_gene_variant LICA-FR 3 57298830 57298830 deletion of <=200bp T - downstream_gene_variant LICA-FR 3 57307548 57307548 single base substitution A G downstream_gene_variant LICA-FR 3 57307548 57307548 single base substitution A G intron_variant LICA-FR 3 57312513 57312513 deletion of <=200bp C - exon_variant LICA-FR 3 57312513 57312513 deletion of <=200bp C - frameshift_variant L441 LICA-FR 3 57313378 57313378 single base substitution C A intron_variant LICA-FR 3 57313378 57313378 single base substitution C A upstream_gene_variant LICA-FR 3 57317106 57317106 single base substitution A C intron_variant LICA-FR 3 57317106 57317106 single base substitution A C upstream_gene_variant LICA-FR 3 57331012 57331012 single base substitution C A upstream_gene_variant LINC-JP 3 57302838 57302838 insertion of <=200bp - G 3_prime_UTR_variant LINC-JP 3 57317295 57317295 single base substitution C T synonymous_variant T214T 642G>A LINC-JP 3 57317295 57317295 single base substitution C T synonymous_variant T215T 645G>A LINC-JP 3 57317295 57317295 single base substitution C T upstream_gene_variant LINC-JP 3 57319491 57319491 single base substitution A G intron_variant LINC-JP 3 57322073 57322073 single base substitution G T missense_variant L109M 325C>A LINC-JP 3 57322073 57322073 single base substitution G T missense_variant L110M 328C>A LIRI-JP 3 57300106 57300106 single base substitution G A downstream_gene_variant LIRI-JP 3 57303057 57303057 single base substitution G A 3_prime_UTR_variant LIRI-JP 3 57310378 57310378 single base substitution A G downstream_gene_variant LIRI-JP 3 57310378 57310378 single base substitution A G intron_variant LIRI-JP 3 57310829 57310829 single base substitution A C intron_variant LIRI-JP 3 57311904 57311904 single base substitution T G exon_variant LIRI-JP 3 57311904 57311904 single base substitution T G synonymous_variant G492G 1476A>C LIRI-JP 3 57312227 57312227 single base substitution C A intron_variant LIRI-JP 3 57313455 57313455 single base substitution G A intron_variant LIRI-JP 3 57313455 57313455 single base substitution G A upstream_gene_variant LIRI-JP 3 57314959 57314959 single base substitution G T intron_variant LIRI-JP 3 57314959 57314959 single base substitution G T upstream_gene_variant LIRI-JP 3 57314961 57314961 single base substitution A T intron_variant LIRI-JP 3 57314961 57314961 single base substitution A T upstream_gene_variant LIRI-JP 3 57321914 57321914 insertion of <=200bp - A intron_variant LIRI-JP 3 57323391 57323391 single base substitution T C intron_variant LIRI-JP 3 57327951 57327951 single base substitution T C upstream_gene_variant LUSC-KR 3 57300242 57300242 single base substitution G C downstream_gene_variant LUSC-KR 3 57313304 57313304 single base substitution T A intron_variant LUSC-KR 3 57313304 57313304 single base substitution T A upstream_gene_variant LUSC-KR 3 57313308 57313308 single base substitution T A intron_variant LUSC-KR 3 57313308 57313308 single base substitution T A upstream_gene_variant LUSC-KR 3 57327644 57327644 single base substitution C T upstream_gene_variant MALY-DE 3 57298201 57298201 single base substitution G T downstream_gene_variant MALY-DE 3 57303120 57303120 single base substitution A C 3_prime_UTR_variant MALY-DE 3 57316317 57316317 single base substitution T G intron_variant MALY-DE 3 57316317 57316317 single base substitution T G upstream_gene_variant MALY-DE 3 57325806 57325806 single base substitution T G intron_variant MALY-DE 3 57326627 57326627 single base substitution G T intron_variant MALY-DE 3 57327417 57327417 single base substitution A C upstream_gene_variant MALY-DE 3 57331482 57331482 single base substitution C T upstream_gene_variant MELA-AU 3 57297463 57297463 single base substitution A C downstream_gene_variant MELA-AU 3 57297465 57297465 single base substitution C T downstream_gene_variant MELA-AU 3 57297599 57297599 single base substitution T C downstream_gene_variant MELA-AU 3 57297678 57297678 single base substitution C T downstream_gene_variant MELA-AU 3 57297990 57297990 single base substitution C T downstream_gene_variant MELA-AU 3 57298268 57298268 single base substitution C T downstream_gene_variant MELA-AU 3 57298845 57298845 single base substitution T G downstream_gene_variant MELA-AU 3 57298897 57298897 single base substitution A C downstream_gene_variant MELA-AU 3 57299419 57299419 single base substitution C T downstream_gene_variant MELA-AU 3 57299487 57299487 single base substitution C T downstream_gene_variant MELA-AU 3 57299771 57299771 single base substitution C T downstream_gene_variant MELA-AU 3 57301241 57301241 single base substitution A G downstream_gene_variant MELA-AU 3 57301502 57301502 single base substitution C T downstream_gene_variant MELA-AU 3 57301750 57301750 single base substitution C T downstream_gene_variant MELA-AU 3 57301915 57301915 single base substitution T C downstream_gene_variant MELA-AU 3 57301917 57301917 single base substitution C T downstream_gene_variant MELA-AU 3 57302179 57302179 single base substitution T C downstream_gene_variant MELA-AU 3 57303999 57303999 single base substitution C T intron_variant MELA-AU 3 57306096 57306096 single base substitution C T downstream_gene_variant MELA-AU 3 57306096 57306096 single base substitution C T intron_variant MELA-AU 3 57306401 57306401 single base substitution G A downstream_gene_variant MELA-AU 3 57306401 57306401 single base substitution G A intron_variant MELA-AU 3 57306761 57306761 single base substitution G C downstream_gene_variant MELA-AU 3 57306761 57306761 single base substitution G C intron_variant MELA-AU 3 57306787 57306787 single base substitution C T downstream_gene_variant MELA-AU 3 57306787 57306787 single base substitution C T intron_variant MELA-AU 3 57307145 57307145 single base substitution C T downstream_gene_variant MELA-AU 3 57307145 57307145 single base substitution C T intron_variant MELA-AU 3 57307620 57307620 single base substitution C T downstream_gene_variant MELA-AU 3 57307620 57307620 single base substitution C T intron_variant MELA-AU 3 57307683 57307683 single base substitution C T downstream_gene_variant MELA-AU 3 57307683 57307683 single base substitution C T intron_variant MELA-AU 3 57307831 57307831 single base substitution C T downstream_gene_variant MELA-AU 3 57307831 57307831 single base substitution C T intron_variant MELA-AU 3 57308125 57308125 single base substitution T C downstream_gene_variant MELA-AU 3 57308125 57308125 single base substitution T C intron_variant MELA-AU 3 57308215 57308215 single base substitution C T downstream_gene_variant MELA-AU 3 57308215 57308215 single base substitution C T intron_variant MELA-AU 3 57308329 57308329 single base substitution C T downstream_gene_variant MELA-AU 3 57308329 57308329 single base substitution C T intron_variant MELA-AU 3 57308684 57308684 single base substitution C T downstream_gene_variant MELA-AU 3 57308684 57308684 single base substitution C T intron_variant MELA-AU 3 57309152 57309152 single base substitution C T downstream_gene_variant MELA-AU 3 57309152 57309152 single base substitution C T intron_variant MELA-AU 3 57309722 57309722 single base substitution G T downstream_gene_variant MELA-AU 3 57309722 57309722 single base substitution G T intron_variant MELA-AU 3 57310588 57310588 single base substitution C T exon_variant MELA-AU 3 57310588 57310588 single base substitution C T missense_variant G585E 1754G>A MELA-AU 3 57310616 57310616 single base substitution C T exon_variant MELA-AU 3 57310616 57310616 single base substitution C T missense_variant D576N 1726G>A MELA-AU 3 57310622 57310622 single base substitution C T exon_variant MELA-AU 3 57310622 57310622 single base substitution C T missense_variant E574K 1720G>A MELA-AU 3 57310800 57310800 single base substitution T A intron_variant MELA-AU 3 57311190 57311190 single base substitution G A intron_variant MELA-AU 3 57311228 57311228 single base substitution G A intron_variant MELA-AU 3 57311329 57311329 single base substitution C T intron_variant MELA-AU 3 57311513 57311513 single base substitution C T intron_variant MELA-AU 3 57313477 57313477 single base substitution C T intron_variant MELA-AU 3 57313477 57313477 single base substitution C T upstream_gene_variant MELA-AU 3 57313599 57313599 single base substitution A T intron_variant MELA-AU 3 57313599 57313599 single base substitution A T upstream_gene_variant MELA-AU 3 57313673 57313674 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 57313673 57313674 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 3 57314441 57314441 single base substitution C T missense_variant G259E 776G>A MELA-AU 3 57314441 57314441 single base substitution C T upstream_gene_variant MELA-AU 3 57314684 57314684 single base substitution G T intron_variant MELA-AU 3 57314684 57314684 single base substitution G T upstream_gene_variant MELA-AU 3 57314718 57314718 single base substitution G A intron_variant MELA-AU 3 57314718 57314718 single base substitution G A upstream_gene_variant MELA-AU 3 57315159 57315159 single base substitution C T intron_variant MELA-AU 3 57315159 57315159 single base substitution C T upstream_gene_variant MELA-AU 3 57315420 57315420 single base substitution G A intron_variant MELA-AU 3 57315420 57315420 single base substitution G A upstream_gene_variant MELA-AU 3 57316509 57316509 single base substitution C A intron_variant MELA-AU 3 57316509 57316509 single base substitution C A upstream_gene_variant MELA-AU 3 57316610 57316610 single base substitution C T intron_variant MELA-AU 3 57316610 57316610 single base substitution C T upstream_gene_variant MELA-AU 3 57316627 57316627 single base substitution T C intron_variant MELA-AU 3 57316627 57316627 single base substitution T C upstream_gene_variant MELA-AU 3 57317419 57317419 single base substitution C T missense_variant G173E 518G>A MELA-AU 3 57317419 57317419 single base substitution C T missense_variant G174E 521G>A MELA-AU 3 57317419 57317419 single base substitution C T upstream_gene_variant MELA-AU 3 57317711 57317711 single base substitution T C intron_variant MELA-AU 3 57317711 57317711 single base substitution T C upstream_gene_variant MELA-AU 3 57318292 57318292 single base substitution C A intron_variant MELA-AU 3 57318365 57318365 single base substitution C T intron_variant MELA-AU 3 57318402 57318402 single base substitution C T intron_variant MELA-AU 3 57318566 57318566 single base substitution C T intron_variant MELA-AU 3 57318599 57318599 single base substitution T G intron_variant MELA-AU 3 57319092 57319092 single base substitution C T intron_variant MELA-AU 3 57319104 57319104 single base substitution G A intron_variant MELA-AU 3 57319365 57319365 single base substitution C T intron_variant MELA-AU 3 57319384 57319384 single base substitution T C intron_variant MELA-AU 3 57319454 57319455 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 57319727 57319727 single base substitution C T intron_variant MELA-AU 3 57319869 57319869 single base substitution C T intron_variant MELA-AU 3 57319909 57319909 single base substitution C A intron_variant MELA-AU 3 57319965 57319965 single base substitution G A intron_variant MELA-AU 3 57320391 57320391 single base substitution C T intron_variant MELA-AU 3 57320470 57320470 single base substitution C T intron_variant MELA-AU 3 57320534 57320534 single base substitution C T intron_variant MELA-AU 3 57320606 57320606 single base substitution G A intron_variant MELA-AU 3 57320885 57320885 single base substitution T C intron_variant MELA-AU 3 57320971 57320971 single base substitution C T intron_variant MELA-AU 3 57321492 57321492 single base substitution C T intron_variant MELA-AU 3 57321573 57321573 single base substitution G T intron_variant MELA-AU 3 57322150 57322150 single base substitution C T intron_variant MELA-AU 3 57322208 57322208 single base substitution C T synonymous_variant R95R 285G>A MELA-AU 3 57322208 57322208 single base substitution C T synonymous_variant R96R 288G>A MELA-AU 3 57322540 57322540 single base substitution C T intron_variant MELA-AU 3 57322688 57322688 single base substitution C T intron_variant MELA-AU 3 57323024 57323024 single base substitution G A intron_variant MELA-AU 3 57323251 57323251 single base substitution C T intron_variant MELA-AU 3 57323399 57323399 single base substitution G A intron_variant MELA-AU 3 57323399 57323400 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 57323661 57323661 single base substitution C T intron_variant MELA-AU 3 57323989 57323989 single base substitution T A intron_variant MELA-AU 3 57324232 57324232 single base substitution G A intron_variant MELA-AU 3 57324260 57324260 single base substitution C T intron_variant MELA-AU 3 57324267 57324267 single base substitution G T intron_variant MELA-AU 3 57324269 57324269 single base substitution G A intron_variant MELA-AU 3 57324279 57324279 single base substitution G A intron_variant MELA-AU 3 57324349 57324350 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 57324523 57324523 single base substitution C T intron_variant MELA-AU 3 57324531 57324531 single base substitution G A intron_variant MELA-AU 3 57324694 57324694 single base substitution C T intron_variant MELA-AU 3 57325828 57325828 single base substitution C T intron_variant MELA-AU 3 57325923 57325923 single base substitution G A intron_variant MELA-AU 3 57325986 57325986 single base substitution C T missense_variant D26N 76G>A MELA-AU 3 57326125 57326125 single base substitution G A 5_prime_UTR_variant MELA-AU 3 57326684 57326684 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 3 57327328 57327329 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 3 57327479 57327479 single base substitution T C upstream_gene_variant MELA-AU 3 57328057 57328057 single base substitution G A upstream_gene_variant MELA-AU 3 57328155 57328155 single base substitution T A upstream_gene_variant MELA-AU 3 57328496 57328496 single base substitution C T upstream_gene_variant MELA-AU 3 57328517 57328517 single base substitution C T upstream_gene_variant MELA-AU 3 57328536 57328536 single base substitution G A upstream_gene_variant MELA-AU 3 57329075 57329075 single base substitution C T upstream_gene_variant MELA-AU 3 57329193 57329193 single base substitution G A upstream_gene_variant MELA-AU 3 57329340 57329340 single base substitution G A upstream_gene_variant MELA-AU 3 57329541 57329541 single base substitution G A upstream_gene_variant MELA-AU 3 57330134 57330134 single base substitution G A upstream_gene_variant MELA-AU 3 57330354 57330354 single base substitution G A upstream_gene_variant MELA-AU 3 57330364 57330364 single base substitution C T upstream_gene_variant MELA-AU 3 57330667 57330667 single base substitution C T upstream_gene_variant MELA-AU 3 57330883 57330883 single base substitution C T upstream_gene_variant MELA-AU 3 57331021 57331021 single base substitution G A upstream_gene_variant MELA-AU 3 57331345 57331346 multiple base substitution (>=2bp and <=200bp) CT TC upstream_gene_variant MELA-AU 3 57331407 57331407 single base substitution G A upstream_gene_variant MELA-AU 3 57331412 57331412 single base substitution C T upstream_gene_variant MELA-AU 3 57331432 57331432 single base substitution G A upstream_gene_variant MELA-AU 3 57331487 57331487 single base substitution G A upstream_gene_variant MELA-AU 3 57331657 57331657 single base substitution C T upstream_gene_variant ORCA-IN 3 57314450 57314450 single base substitution G T missense_variant A256D 767C>A ORCA-IN 3 57314450 57314450 single base substitution G T upstream_gene_variant ORCA-IN 3 57327606 57327606 single base substitution T C upstream_gene_variant OV-AU 3 57303113 57303113 single base substitution A G 3_prime_UTR_variant OV-AU 3 57303506 57303506 single base substitution C A 3_prime_UTR_variant OV-AU 3 57307461 57307461 single base substitution A G downstream_gene_variant OV-AU 3 57307461 57307461 single base substitution A G intron_variant OV-AU 3 57309325 57309325 single base substitution C A downstream_gene_variant OV-AU 3 57309325 57309325 single base substitution C A intron_variant OV-AU 3 57312243 57312243 single base substitution A T intron_variant OV-AU 3 57313387 57313387 single base substitution C A intron_variant OV-AU 3 57313387 57313387 single base substitution C A upstream_gene_variant OV-AU 3 57318323 57318323 single base substitution T G intron_variant OV-AU 3 57328918 57328918 single base substitution T A upstream_gene_variant PACA-AU 3 57302373 57302373 single base substitution A C downstream_gene_variant PACA-AU 3 57310229 57310229 single base substitution C A downstream_gene_variant PACA-AU 3 57310229 57310229 single base substitution C A intron_variant PACA-AU 3 57313306 57313306 single base substitution T A intron_variant PACA-AU 3 57313306 57313306 single base substitution T A upstream_gene_variant PACA-AU 3 57313306 57313306 single base substitution T C intron_variant PACA-AU 3 57313306 57313306 single base substitution T C upstream_gene_variant PACA-AU 3 57317421 57317421 single base substitution A G synonymous_variant Y172Y 516T>C PACA-AU 3 57317421 57317421 single base substitution A G synonymous_variant Y173Y 519T>C PACA-AU 3 57317421 57317421 single base substitution A G upstream_gene_variant PACA-AU 3 57327227 57327227 deletion of <=200bp A - upstream_gene_variant PACA-CA 3 57298416 57298416 single base substitution A G downstream_gene_variant PACA-CA 3 57300091 57300091 single base substitution T C downstream_gene_variant PACA-CA 3 57307087 57307087 single base substitution A C downstream_gene_variant PACA-CA 3 57307087 57307087 single base substitution A C intron_variant PACA-CA 3 57309206 57309206 single base substitution C T downstream_gene_variant PACA-CA 3 57309206 57309206 single base substitution C T intron_variant PACA-CA 3 57326044 57326044 single base substitution G A synonymous_variant S6S 18C>T PACA-CA 3 57327227 57327227 deletion of <=200bp A - upstream_gene_variant PACA-CA 3 57329013 57329013 deletion of <=200bp T - upstream_gene_variant PACA-CA 3 57329578 57329578 single base substitution C T upstream_gene_variant PAEN-AU 3 57302424 57302424 single base substitution A T 3_prime_UTR_variant PAEN-AU 3 57313496 57313496 single base substitution A T intron_variant PAEN-AU 3 57313496 57313496 single base substitution A T upstream_gene_variant PBCA-DE 3 57312607 57312607 single base substitution G A exon_variant PBCA-DE 3 57312607 57312607 single base substitution G A missense_variant A410V 1229C>T PBCA-DE 3 57321716 57321716 single base substitution G A intron_variant PBCA-DE 3 57328600 57328600 single base substitution G A upstream_gene_variant PBCA-DE 3 57329907 57329907 single base substitution C G upstream_gene_variant PRAD-CA 3 57304451 57304451 single base substitution T G intron_variant PRAD-CA 3 57326466 57326466 single base substitution G A intron_variant PRAD-UK 3 57300459 57300459 single base substitution A G downstream_gene_variant PRAD-UK 3 57305161 57305161 insertion of <=200bp - T intron_variant PRAD-UK 3 57322484 57322484 single base substitution C T intron_variant PRAD-UK 3 57326667 57326667 single base substitution T C 5_prime_UTR_variant PRAD-US 3 57303570 57303570 single base substitution A T 3_prime_UTR_variant READ-US 3 57312659 57312659 single base substitution C A exon_variant READ-US 3 57312659 57312659 single base substitution C A missense_variant A393S 1177G>T RECA-EU 3 57316218 57316218 single base substitution C A intron_variant RECA-EU 3 57316218 57316218 single base substitution C A upstream_gene_variant RECA-EU 3 57321825 57321825 single base substitution G A intron_variant SKCA-BR 3 57304800 57304800 single base substitution C T intron_variant SKCA-BR 3 57305732 57305732 single base substitution T A downstream_gene_variant SKCA-BR 3 57305732 57305732 single base substitution T A intron_variant SKCA-BR 3 57307275 57307275 single base substitution C T downstream_gene_variant SKCA-BR 3 57307275 57307275 single base substitution C T intron_variant SKCA-BR 3 57307291 57307291 single base substitution C T downstream_gene_variant SKCA-BR 3 57307291 57307291 single base substitution C T intron_variant SKCA-BR 3 57311290 57311291 deletion of <=200bp CA - intron_variant SKCA-BR 3 57313291 57313292 deletion of <=200bp TC - intron_variant SKCA-BR 3 57313291 57313292 deletion of <=200bp TC - upstream_gene_variant SKCA-BR 3 57313299 57313299 single base substitution T C intron_variant SKCA-BR 3 57313299 57313299 single base substitution T C upstream_gene_variant SKCA-BR 3 57313303 57313303 single base substitution T A intron_variant SKCA-BR 3 57313303 57313303 single base substitution T A upstream_gene_variant SKCA-BR 3 57314098 57314098 single base substitution C T intron_variant SKCA-BR 3 57314098 57314098 single base substitution C T upstream_gene_variant SKCA-BR 3 57316518 57316518 single base substitution C T intron_variant SKCA-BR 3 57316518 57316518 single base substitution C T upstream_gene_variant SKCA-BR 3 57318969 57318970 deletion of <=200bp GT - intron_variant SKCA-BR 3 57327060 57327060 single base substitution C T upstream_gene_variant SKCA-BR 3 57327878 57327878 single base substitution T C upstream_gene_variant SKCA-BR 3 57328204 57328204 insertion of <=200bp - CT upstream_gene_variant SKCA-BR 3 57329340 57329340 single base substitution G A upstream_gene_variant SKCA-BR 3 57330457 57330457 single base substitution G A upstream_gene_variant SKCA-BR 3 57331387 57331387 insertion of <=200bp - AT upstream_gene_variant SKCM-US 3 57302486 57302486 single base substitution G A 3_prime_UTR_variant SKCM-US 3 57310699 57310699 single base substitution C T exon_variant SKCM-US 3 57310699 57310699 single base substitution C T missense_variant R548Q 1643G>A SKCM-US 3 57312513 57312513 single base substitution C T exon_variant SKCM-US 3 57312513 57312513 single base substitution C T synonymous_variant L441L 1323G>A STAD-US 3 57312659 57312659 single base substitution C T exon_variant STAD-US 3 57312659 57312659 single base substitution C T missense_variant A393T 1177G>A STAD-US 3 57312678 57312678 single base substitution C T exon_variant STAD-US 3 57312678 57312678 single base substitution C T synonymous_variant P386P 1158G>A STAD-US 3 57312815 57312815 single base substitution T G exon_variant STAD-US 3 57312815 57312815 single base substitution T G missense_variant N341H 1021A>C UCEC-US 3 57310733 57310733 single base substitution A C exon_variant UCEC-US 3 57310733 57310733 single base substitution A C missense_variant L537V 1609T>G UCEC-US 3 57311864 57311864 single base substitution G A exon_variant UCEC-US 3 57311864 57311864 single base substitution G A missense_variant R506W 1516C>T UCEC-US 3 57312486 57312486 single base substitution A C exon_variant UCEC-US 3 57312486 57312486 single base substitution A C missense_variant C450W 1350T>G UCEC-US 3 57312748 57312748 single base substitution G A exon_variant UCEC-US 3 57312748 57312748 single base substitution G A missense_variant A363V 1088C>T UCEC-US 3 57317240 57317240 single base substitution C A stop_gained E233* 697G>T UCEC-US 3 57317240 57317240 single base substitution C A stop_gained E234* 700G>T UCEC-US 3 57317240 57317240 single base substitution C A upstream_gene_variant UCEC-US 3 57317356 57317356 single base substitution C G missense_variant G194A 581G>C UCEC-US 3 57317356 57317356 single base substitution C G missense_variant G195A 584G>C UCEC-US 3 57317356 57317356 single base substitution C G upstream_gene_variant UCEC-US 3 57321943 57321943 single base substitution G T missense_variant S152Y 455C>A UCEC-US 3 57321943 57321943 single base substitution G T missense_variant S153Y 458C>A UCEC-US 3 57322249 57322249 single base substitution C T missense_variant G82S 244G>A UCEC-US 3 57322249 57322249 single base substitution C T missense_variant G83S 247G>A UCEC-US 3 57325992 57325992 single base substitution A C missense_variant L24V 70T>G UCEC-US 3 57326125 57326125 single base substitution G T 5_prime_UTR_variant UCEC-US 3 57326127 57326127 single base substitution G T 5_prime_UTR_variant UCEC-US 3 57327968 57327968 single base substitution G T upstream_gene_variant UCEC-US 3 57327988 57327988 single base substitution G A upstream_gene_variant UCEC-US 3 57330426 57330426 single base substitution T C upstream_gene_variant UCEC-US 3 57330965 57330965 single base substitution G T upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-AP-A056-01 COSM1047624 c.754T>G p.L252V Substitution - Missense 3:57276705-57276705 - Pat_31_A COSM5865132 c.491G>A p.R164Q Substitution - Missense 3:57278462-57278462 - A1 COSM1424837 c.839G>A p.R280H Substitution - Missense 3:57276620-57276620 - TCGA-AP-A056-01 COSM1047625 c.661C>T p.R221W Substitution - Missense 3:57277836-57277836 - TCGA-AA-3672-01 COSM266047 c.478T>C p.Y160H Substitution - Missense 3:57278475-57278475 - LUAD-CHTN-MAD06-00668 COSM359803 c.234T>A p.A78A Substitution - coding silent 3:57278719-57278719 - TCGA-EB-A3Y6-01 COSM3596684 c.788G>A p.R263Q Substitution - Missense 3:57276671-57276671 - TCGA-B7-5818-01 COSM4119540 c.166A>C p.N56H Substitution - Missense 3:57278787-57278787 - cSCCP4 COSM143547 c.212_213GG>AA p.R71K Substitution - Missense 3:57278740-57278741 - CSCC-40-T COSM4519416 c.154G>A p.G52R Substitution - Missense 3:57278799-57278799 - TCGA-AA-3510-01 COSM1424841 c.730A>G p.T244A Substitution - Missense 3:57277767-57277767 - 234 COSM3730887 c.278C>T p.A93V Substitution - Missense 3:57278675-57278675 - CSCC-31-T COSM4519454 c.155G>A p.G52E Substitution - Missense 3:57278798-57278798 - C135 COSM4618369 c.112G>A p.A38T Substitution - Missense 3:57278841-57278841 - TCGA-EI-6507-01 COSM1566658 c.322G>T p.A108S Substitution - Missense 3:57278631-57278631 - MD-317 COSM301712 c.374C>T p.A125V Substitution - Missense 3:57278579-57278579 - CSCC-31-T COSM4528683 c.701G>A p.G234E Substitution - Missense 3:57277796-57277796 - ME009T COSM222812 c.793C>T p.H265Y Substitution - Missense 3:57276666-57276666 - TCGA-FW-A3R5-06 COSM3916502 c.468G>A p.L156L Substitution - coding silent 3:57278485-57278485 - ICGC_MB125 COSM301712 c.374C>T p.A125V Substitution - Missense 3:57278579-57278579 - 8 COSM4166897 c.870C>T p.Y290Y Substitution - coding silent 3:57276589-57276589 - SJBALL020649_D1 COSM4993823 c.730+1G>A p.? Unknown 3:57277766-57277766 - CHC912T COSM4951317 c.468delG p.N157fs*40 Deletion - Frameshift 3:57278485-57278485 - TCGA-A8-A0A6-01 COSM3824446 c.626T>G p.V209G Substitution - Missense 3:57277871-57277871 - TCGA-BR-6452-01 COSM4119536 c.322G>A p.A108T Substitution - Missense 3:57278631-57278631 - TCGA-AD-6965-01 COSM1424843 c.404C>A p.P135H Substitution - Missense 3:57278549-57278549 - C086 COSM5527004 c.887G>A p.G296E Substitution - Missense 3:57276572-57276572 - LIM2551 COSM4614005 c.696delA p.K232fs*12 Deletion - Frameshift 3:57277801-57277801 - TCGA-G4-6304-01 COSM1424837 c.839G>A p.R280H Substitution - Missense 3:57276620-57276620 - PT33 COSM5908251 c.202G>A p.D68N Substitution - Missense 3:57278751-57278751 - HCC2998 COSM1670287 c.445G>T p.E149* Substitution - Nonsense 3:57278508-57278508 - TCGA-G2-A3IE-01 COSM1309397 c.459G>A p.R153R Substitution - coding silent 3:57278494-57278494 - MEL-JWCI-WGS-37 COSM1167826 c.227_228insA p.Y76fs*1 Insertion - Frameshift 3:57278725-57278726 - HCC2998 COSM1670287 c.445G>T p.E149* Substitution - Nonsense 3:57278508-57278508 - TCGA-BR-A4QL-01 COSM4119538 c.303G>A p.P101P Substitution - coding silent 3:57278650-57278650 - HCT8 COSM1047627 c.233C>T p.A78V Substitution - Missense 3:57278720-57278720 - RK030_C01 COSM3702463 c.621A>C p.G207G Substitution - coding silent 3:57277876-57277876 - CoCM-1 COSM4621163 c.780C>G p.C260W Substitution - Missense 3:57276679-57276679 - TCGA-BS-A0UV-01 COSM1047627 c.233C>T p.A78V Substitution - Missense 3:57278720-57278720 - CHC912T COSM4951317 c.468delG p.N157fs*40 Deletion - Frameshift 3:57278485-57278485 - MINO COSM1740933 c.698_699delAG p.Q233fs*>70 Deletion - Frameshift 3:57277798-57277799 - Pat_31_B COSM5865132 c.491G>A p.R164Q Substitution - Missense 3:57278462-57278462 - TCGA-CM-5861-01 COSM1424839 c.761G>A p.R254H Substitution - Missense 3:57276698-57276698 - TCGA-AP-A059-01 COSM1047626 c.495T>G p.C165W Substitution - Missense 3:57278458-57278458 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.665093;Hs.665094;Hs.665095;Hs.665096;Hs.665097;Hs.665098;Hs.665099;Hs.665100;Hs.665101;Hs.665102;Hs.665104;Hs.665105;Hs.665106;Hs.665107;Hs.665108;Hs.665109;Hs.665110;Hs.665111;Hs.665112;Hs.665113;Hs.665114;Hs.665115;Hs.665116;Hs.665117;Hs.665118;Hs.665120;Hs.665121;Hs.665122;Hs.665123;Hs.665124;Hs.665125;Hs.665126;Hs.665127;Hs.665128;Hs.665129;Hs.665130;Hs.665131;Hs.665133;Hs.665134;Hs.665135;Hs.665136;Hs.665138;Hs.665139;Hs.665140;Hs.665142;Hs.665143;Hs.665145;Hs.665146;Hs.665147;Hs.665148;Hs.665149;Hs.665150;Hs.665151;Hs.665153;Hs.665154 3p21.1 Hs.740739;Hs.740741;Hs.740742;Hs.740745;Hs.740746;Hs.740750;Hs.740753;Hs.740755 3p21.1

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.L24V c.70T>G 3 57325992 UCEC A T Missense p.L490H c.1469T>A 3 57311911 LUAD C A IntronicSNV . c.1431+178G>T 3 57312227 HC C T Synonymous p.R438R c.1314G>A 3 57312522 BLCA G A IntronicSNV . c.1432-57C>T 3 57312005 CM G A Missense p.A410V c.1229C>T 3 57312607 MB G A Missense p.H550Y c.1648C>T 3 57310694 CM G A Missense p.R539C c.1615C>T 3 57310727 STAD G T Missense p.A190E c.569C>A 3 57317368 MM T A Missense p.N144I c.431A>T 3 57321967 PAAD T G Missense p.N341H c.1021A>C 3 57312815 STAD - T Nonsense p.Y361*fs*1 c.1082dupA 3 57312754 CM