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 4 184431485 184431485 + Missense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 g.chr4:184431485G>A c.223G>A c.(223-225)Gat>Aat p.D75N BLCA 4 184431500 184431500 + Missense_Mutation SNP A A G TCGA-4Z-AA7S-01A-11D-A391-08 TCGA-4Z-AA7S-10A-01D-A394-08 g.chr4:184431500A>G c.238A>G c.(238-240)Aaa>Gaa p.K80E BLCA 4 184431737 184431737 + Missense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 g.chr4:184431737G>A c.475G>A c.(475-477)Gaa>Aaa p.E159K BLCA 4 184431737 184431737 + Missense_Mutation SNP G G A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 g.chr4:184431737G>A c.475G>A c.(475-477)Gaa>Aaa p.E159K BRCA 4 184431864 184431864 + Missense_Mutation SNP C C T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 g.chr4:184431864C>T c.602C>T c.(601-603)tCa>tTa p.S201L COAD 4 184431707 184431707 + Missense_Mutation SNP T T C TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr4:184431707T>C c.445T>C c.(445-447)Tca>Cca p.S149P COAD 4 184431941 184431941 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr4:184431941G>A c.679G>A c.(679-681)Gga>Aga p.G227R COAD 4 184432020 184432020 + Nonsense_Mutation SNP G G A TCGA-F4-6703-01A-11D-1835-10 TCGA-F4-6703-10A-01D-1835-10 g.chr4:184432020G>A c.758G>A c.(757-759)tGg>tAg p.W253* COAD 4 184432020 184432020 + Nonsense_Mutation SNP G G A TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr4:184432020G>A c.758G>A c.(757-759)tGg>tAg p.W253* COAD 4 184432021 184432021 + Missense_Mutation SNP G G C TCGA-AZ-5407-01A-01D-1719-10 TCGA-AZ-5407-10A-01D-1719-10 g.chr4:184432021G>C c.759G>C c.(757-759)tgG>tgC p.W253C COAD 4 184432081 184432081 + Frame_Shift_Del DEL A A - TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr4:184432081delA c.819delA c.(817-819)acafs p.T273fs COADREAD 4 184431464 184431464 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr4:184431464G>A c.202G>A c.(202-204)Gaa>Aaa p.E68K COADREAD 4 184431707 184431707 + Missense_Mutation SNP T T C TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr4:184431707T>C c.445T>C c.(445-447)Tca>Cca p.S149P COADREAD 4 184431941 184431941 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr4:184431941G>A c.679G>A c.(679-681)Gga>Aga p.G227R COADREAD 4 184432020 184432020 + Nonsense_Mutation SNP G G A TCGA-F4-6703-01A-11D-1835-10 TCGA-F4-6703-10A-01D-1835-10 g.chr4:184432020G>A c.758G>A c.(757-759)tGg>tAg p.W253* COADREAD 4 184432020 184432020 + Nonsense_Mutation SNP G G A TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr4:184432020G>A c.758G>A c.(757-759)tGg>tAg p.W253* COADREAD 4 184432021 184432021 + Missense_Mutation SNP G G C TCGA-AZ-5407-01A-01D-1719-10 TCGA-AZ-5407-10A-01D-1719-10 g.chr4:184432021G>C c.759G>C c.(757-759)tgG>tgC p.W253C COADREAD 4 184432081 184432081 + Frame_Shift_Del DEL A A - TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr4:184432081delA c.819delA c.(817-819)acafs p.T273fs ESCA 4 184431438 184431438 + Missense_Mutation SNP C C T TCGA-L5-A43C-01A-11D-A247-09 TCGA-L5-A43C-11A-11D-A247-09 g.chr4:184431438C>T c.176C>T c.(175-177)aCg>aTg p.T59M GBM 4 184431464 184431464 + Missense_Mutation SNP G G A TCGA-32-2632-01A-01D-1495-08 TCGA-32-2632-10A-01D-1495-08 g.chr4:184431464G>A c.202G>A c.(202-204)Gaa>Aaa p.E68K GBMLGG 4 184431464 184431464 + Missense_Mutation SNP G G A TCGA-32-2632-01A-01D-1495-08 TCGA-32-2632-10A-01D-1495-08 g.chr4:184431464G>A c.202G>A c.(202-204)Gaa>Aaa p.E68K HNSC 4 184432021 184432021 + Missense_Mutation SNP G G C TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 g.chr4:184432021G>C c.759G>C c.(757-759)tgG>tgC p.W253C LIHC 4 184426478 184426478 + Missense_Mutation SNP A A G TCGA-DD-A39Z-01A-11D-A20W-10 TCGA-DD-A39Z-11A-21D-A20W-10 g.chr4:184426478A>G c.130A>G c.(130-132)Agg>Ggg p.R44G LIHC 4 184431731 184431731 + Missense_Mutation SNP A A G TCGA-DD-A1EB-01A-11D-A12Z-10 TCGA-DD-A1EB-10A-01D-A12Z-10 g.chr4:184431731A>G c.469A>G c.(469-471)Acc>Gcc p.T157A LUSC 4 184431872 184431872 + Missense_Mutation SNP G G C TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 g.chr4:184431872G>C c.610G>C c.(610-612)Gag>Cag p.E204Q OV 4 184432021 184432021 + Missense_Mutation SNP G G T TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 g.chr4:184432021G>T c.759G>T c.(757-759)tgG>tgT p.W253C PAAD 4 184431723 184431723 + Missense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr4:184431723G>T c.461G>T c.(460-462)aGg>aTg p.R154M READ 4 184431464 184431464 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr4:184431464G>A c.202G>A c.(202-204)Gaa>Aaa p.E68K SARC 4 184431445 184431445 + Silent SNP G G A TCGA-DX-A6YR-01A-33D-A351-09 TCGA-DX-A6YR-10B-01D-A351-09 g.chr4:184431445G>A c.183G>A c.(181-183)aaG>aaA p.K61K SARC 4 184431587 184431587 + Missense_Mutation SNP G G A TCGA-DX-A3UF-01A-11D-A307-09 TCGA-DX-A3UF-10A-01D-A307-09 g.chr4:184431587G>A c.325G>A c.(325-327)Gaa>Aaa p.E109K SARC 4 184432081 184432081 + Frame_Shift_Del DEL A A - TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 g.chr4:184432081delA c.819delA c.(817-819)acafs p.T273fs SKCM 4 184431571 184431571 + Silent SNP T T A TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 g.chr4:184431571T>A c.309T>A c.(307-309)atT>atA p.I103I SKCM 4 184431602 184431602 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chr4:184431602C>T c.340C>T c.(340-342)Cgg>Tgg p.R114W SKCM 4 184432007 184432007 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 g.chr4:184432007C>T c.745C>T c.(745-747)Cca>Tca p.P249S

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 4 184431737 184431737 single base substitution G A missense_variant E119K 355G>A BLCA-US 4 184431737 184431737 single base substitution G A missense_variant E159K 475G>A BOCA-FR 4 184436959 184436959 single base substitution T G downstream_gene_variant BRCA-EU 4 184422326 184422326 single base substitution C T upstream_gene_variant BRCA-EU 4 184423910 184423910 deletion of <=200bp T - upstream_gene_variant BRCA-EU 4 184423917 184423917 single base substitution T G upstream_gene_variant BRCA-EU 4 184425482 184425482 single base substitution C T upstream_gene_variant BRCA-EU 4 184428797 184428797 single base substitution C T intron_variant BRCA-EU 4 184429425 184429425 single base substitution A G intron_variant BRCA-EU 4 184429803 184429803 single base substitution G A intron_variant BRCA-EU 4 184432587 184432587 single base substitution C T downstream_gene_variant BRCA-EU 4 184433991 184433991 deletion of <=200bp C - downstream_gene_variant BRCA-EU 4 184434466 184434466 single base substitution G C downstream_gene_variant BRCA-EU 4 184434714 184434714 insertion of <=200bp - G downstream_gene_variant BRCA-EU 4 184435059 184435059 single base substitution C T downstream_gene_variant BRCA-FR 4 184423917 184423917 single base substitution T G upstream_gene_variant BRCA-FR 4 184432587 184432587 single base substitution C T downstream_gene_variant BRCA-FR 4 184435059 184435059 single base substitution C T downstream_gene_variant BRCA-US 4 184431864 184431864 single base substitution C T downstream_gene_variant BRCA-US 4 184431864 184431864 single base substitution C T missense_variant S161L 482C>T BRCA-US 4 184431864 184431864 single base substitution C T missense_variant S201L 602C>T CLLE-ES 4 184422525 184422525 single base substitution A G upstream_gene_variant CLLE-ES 4 184428534 184428534 single base substitution G A intron_variant CLLE-ES 4 184431033 184431033 single base substitution C T intron_variant COAD-US 4 184431707 184431707 single base substitution T C missense_variant S109P 325T>C COAD-US 4 184431707 184431707 single base substitution T C missense_variant S149P 445T>C COAD-US 4 184431941 184431941 single base substitution G A downstream_gene_variant COAD-US 4 184431941 184431941 single base substitution G A missense_variant G187R 559G>A COAD-US 4 184431941 184431941 single base substitution G A missense_variant G227R 679G>A COAD-US 4 184432081 184432081 deletion of <=200bp A - downstream_gene_variant COAD-US 4 184432081 184432081 deletion of <=200bp A - frameshift_variant T233 COAD-US 4 184432081 184432081 deletion of <=200bp A - frameshift_variant T273 COCA-CN 4 184431545 184431545 single base substitution G T stop_gained E55* 163G>T COCA-CN 4 184431545 184431545 single base substitution G T stop_gained E95* 283G>T COCA-CN 4 184432051 184432051 single base substitution G T downstream_gene_variant COCA-CN 4 184432051 184432051 single base substitution G T missense_variant E223D 669G>T COCA-CN 4 184432051 184432051 single base substitution G T missense_variant E263D 789G>T COCA-CN 4 184432068 184432068 single base substitution G T downstream_gene_variant COCA-CN 4 184432068 184432068 single base substitution G T missense_variant S229I 686G>T COCA-CN 4 184432068 184432068 single base substitution G T missense_variant S269I 806G>T ESAD-UK 4 184433014 184433014 single base substitution G C downstream_gene_variant ESAD-UK 4 184436433 184436433 single base substitution C G downstream_gene_variant ESCA-CN 4 184431660 184431660 single base substitution G A missense_variant R133Q 398G>A ESCA-CN 4 184431660 184431660 single base substitution G A missense_variant R93Q 278G>A GBM-US 4 184431464 184431464 single base substitution G A missense_variant E28K 82G>A GBM-US 4 184431464 184431464 single base substitution G A missense_variant E68K 202G>A LAML-KR 4 184430915 184430915 single base substitution T C intron_variant LIHC-US 4 184431731 184431731 single base substitution A G missense_variant T117A 349A>G LIHC-US 4 184431731 184431731 single base substitution A G missense_variant T157A 469A>G LIRI-JP 4 184425157 184425157 single base substitution C T upstream_gene_variant LIRI-JP 4 184428397 184428397 single base substitution G A intron_variant LIRI-JP 4 184429782 184429782 single base substitution C T intron_variant LIRI-JP 4 184432362 184432362 single base substitution A T downstream_gene_variant LIRI-JP 4 184433394 184433394 single base substitution G A downstream_gene_variant LIRI-JP 4 184435310 184435310 single base substitution G T downstream_gene_variant LUSC-KR 4 184421585 184421585 single base substitution G T upstream_gene_variant LUSC-KR 4 184431410 184431410 single base substitution C T intron_variant LUSC-KR 4 184436334 184436334 single base substitution C G downstream_gene_variant LUSC-US 4 184431872 184431872 single base substitution G C downstream_gene_variant LUSC-US 4 184431872 184431872 single base substitution G C missense_variant E164Q 490G>C LUSC-US 4 184431872 184431872 single base substitution G C missense_variant E204Q 610G>C MALY-DE 4 184422588 184422588 single base substitution G A upstream_gene_variant MALY-DE 4 184424606 184424606 single base substitution C T upstream_gene_variant MALY-DE 4 184430972 184430972 single base substitution C A intron_variant MALY-DE 4 184433613 184433613 single base substitution G C downstream_gene_variant MELA-AU 4 184421167 184421167 single base substitution G A upstream_gene_variant MELA-AU 4 184422291 184422291 single base substitution G A upstream_gene_variant MELA-AU 4 184422350 184422350 single base substitution C T upstream_gene_variant MELA-AU 4 184422435 184422435 single base substitution G A upstream_gene_variant MELA-AU 4 184422450 184422450 single base substitution T C upstream_gene_variant MELA-AU 4 184424167 184424167 single base substitution C T upstream_gene_variant MELA-AU 4 184424655 184424655 single base substitution G A upstream_gene_variant MELA-AU 4 184425566 184425566 single base substitution A T upstream_gene_variant MELA-AU 4 184425761 184425761 single base substitution C T upstream_gene_variant MELA-AU 4 184427031 184427031 single base substitution C T intron_variant MELA-AU 4 184427031 184427031 single base substitution C T upstream_gene_variant MELA-AU 4 184427351 184427351 single base substitution C T 5_prime_UTR_variant MELA-AU 4 184427351 184427351 single base substitution C T intron_variant MELA-AU 4 184427351 184427351 single base substitution C T upstream_gene_variant MELA-AU 4 184427412 184427412 single base substitution C T 5_prime_UTR_variant MELA-AU 4 184427412 184427412 single base substitution C T intron_variant MELA-AU 4 184428512 184428512 single base substitution C T intron_variant MELA-AU 4 184428737 184428737 single base substitution T C intron_variant MELA-AU 4 184429087 184429087 single base substitution T C intron_variant MELA-AU 4 184429543 184429543 single base substitution G A intron_variant MELA-AU 4 184430577 184430577 single base substitution T A intron_variant MELA-AU 4 184432555 184432555 single base substitution C T downstream_gene_variant MELA-AU 4 184433485 184433485 single base substitution G C downstream_gene_variant MELA-AU 4 184433511 184433511 single base substitution C T downstream_gene_variant MELA-AU 4 184433520 184433520 single base substitution T C downstream_gene_variant MELA-AU 4 184433522 184433522 single base substitution G T downstream_gene_variant MELA-AU 4 184434259 184434259 single base substitution G A downstream_gene_variant MELA-AU 4 184434357 184434357 single base substitution C T downstream_gene_variant MELA-AU 4 184434389 184434389 single base substitution C T downstream_gene_variant MELA-AU 4 184434518 184434518 single base substitution C T downstream_gene_variant MELA-AU 4 184434609 184434609 single base substitution C T downstream_gene_variant MELA-AU 4 184435522 184435523 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 4 184435631 184435632 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 4 184436201 184436201 single base substitution T C downstream_gene_variant MELA-AU 4 184436451 184436451 single base substitution C T downstream_gene_variant MELA-AU 4 184436601 184436601 single base substitution C T downstream_gene_variant MELA-AU 4 184436958 184436959 multiple base substitution (>=2bp and <=200bp) CT TC downstream_gene_variant OV-AU 4 184431067 184431067 single base substitution T C intron_variant OV-AU 4 184432259 184432259 single base substitution T A downstream_gene_variant OV-US 4 184432021 184432021 single base substitution G T downstream_gene_variant OV-US 4 184432021 184432021 single base substitution G T missense_variant W213C 639G>T OV-US 4 184432021 184432021 single base substitution G T missense_variant W253C 759G>T PACA-AU 4 184424050 184424050 single base substitution A G upstream_gene_variant PACA-AU 4 184426338 184426338 single base substitution G A 5_prime_UTR_variant PACA-AU 4 184426338 184426338 single base substitution G A upstream_gene_variant PACA-AU 4 184436743 184436743 single base substitution C T downstream_gene_variant PACA-CA 4 184421300 184421300 single base substitution G A upstream_gene_variant PACA-CA 4 184422114 184422114 single base substitution C T upstream_gene_variant PACA-CA 4 184425210 184425210 single base substitution C G upstream_gene_variant PACA-CA 4 184425781 184425781 single base substitution A C upstream_gene_variant PACA-CA 4 184426334 184426334 insertion of <=200bp - TGGTGGT 5_prime_UTR_variant PACA-CA 4 184426334 184426334 insertion of <=200bp - TGGTGGT upstream_gene_variant PACA-CA 4 184426335 184426335 insertion of <=200bp - G 5_prime_UTR_variant PACA-CA 4 184426335 184426335 insertion of <=200bp - G upstream_gene_variant PACA-CA 4 184426340 184426341 deletion of <=200bp AT - 5_prime_UTR_variant PACA-CA 4 184426340 184426341 deletion of <=200bp AT - upstream_gene_variant PACA-CA 4 184426344 184426345 deletion of <=200bp GC - 5_prime_UTR_variant PACA-CA 4 184426344 184426345 deletion of <=200bp GC - upstream_gene_variant PACA-CA 4 184426350 184426356 deletion of <=200bp TGTTAGG - frameshift_variant MLG1 PACA-CA 4 184426350 184426356 deletion of <=200bp TGTTAGG - upstream_gene_variant PACA-CA 4 184426372 184426372 insertion of <=200bp - G frameshift_variant Q8Q? PACA-CA 4 184426372 184426372 insertion of <=200bp - G upstream_gene_variant PACA-CA 4 184426402 184426402 single base substitution G A synonymous_variant G18G 54G>A PACA-CA 4 184426402 184426402 single base substitution G A upstream_gene_variant PACA-CA 4 184426835 184426845 deletion of <=200bp CGCAGACCCTG - intron_variant PACA-CA 4 184426835 184426845 deletion of <=200bp CGCAGACCCTG - upstream_gene_variant PACA-CA 4 184432763 184432763 single base substitution G C downstream_gene_variant PACA-CA 4 184434772 184434772 single base substitution T C downstream_gene_variant PACA-CA 4 184435032 184435032 single base substitution C T downstream_gene_variant PACA-CA 4 184436156 184436156 single base substitution G A downstream_gene_variant PACA-CA 4 184436609 184436609 single base substitution C T downstream_gene_variant PAEN-AU 4 184427950 184427950 single base substitution T G intron_variant PAEN-IT 4 184431958 184431958 single base substitution G T downstream_gene_variant PAEN-IT 4 184431958 184431958 single base substitution G T missense_variant Q192H 576G>T PAEN-IT 4 184431958 184431958 single base substitution G T missense_variant Q232H 696G>T PBCA-DE 4 184424429 184424429 single base substitution G T upstream_gene_variant PBCA-DE 4 184426246 184426246 deletion of <=200bp C - 5_prime_UTR_variant PBCA-DE 4 184426246 184426246 deletion of <=200bp C - upstream_gene_variant PBCA-DE 4 184428608 184428608 single base substitution A C intron_variant PBCA-DE 4 184428833 184428833 single base substitution T A intron_variant PBCA-DE 4 184429533 184429533 single base substitution G A intron_variant PRAD-CA 4 184424278 184424278 single base substitution A G upstream_gene_variant PRAD-CA 4 184433516 184433516 single base substitution T G downstream_gene_variant PRAD-UK 4 184425117 184425117 single base substitution C T upstream_gene_variant PRAD-UK 4 184435249 184435249 single base substitution T C downstream_gene_variant RECA-EU 4 184425126 184425126 single base substitution C G upstream_gene_variant RECA-EU 4 184428546 184428546 single base substitution G A intron_variant SKCA-BR 4 184421863 184421863 single base substitution C T upstream_gene_variant SKCA-BR 4 184424420 184424420 insertion of <=200bp - CG upstream_gene_variant SKCA-BR 4 184424422 184424422 insertion of <=200bp - GGT upstream_gene_variant SKCA-BR 4 184426564 184426564 single base substitution A G intron_variant SKCA-BR 4 184426564 184426564 single base substitution A G upstream_gene_variant SKCA-BR 4 184427939 184427939 single base substitution T G intron_variant SKCA-BR 4 184427944 184427944 single base substitution A G intron_variant SKCA-BR 4 184430765 184430765 single base substitution A T intron_variant SKCA-BR 4 184431679 184431679 single base substitution G A synonymous_variant K139K 417G>A SKCA-BR 4 184431679 184431679 single base substitution G A synonymous_variant K99K 297G>A SKCA-BR 4 184432152 184432152 single base substitution C T 3_prime_UTR_variant SKCA-BR 4 184432152 184432152 single base substitution C T downstream_gene_variant SKCM-US 4 184431571 184431571 single base substitution T A synonymous_variant I103I 309T>A SKCM-US 4 184431571 184431571 single base substitution T A synonymous_variant I63I 189T>A SKCM-US 4 184431602 184431602 single base substitution C T missense_variant R114W 340C>T SKCM-US 4 184431602 184431602 single base substitution C T missense_variant R74W 220C>T SKCM-US 4 184432007 184432007 single base substitution C T downstream_gene_variant SKCM-US 4 184432007 184432007 single base substitution C T missense_variant P209S 625C>T SKCM-US 4 184432007 184432007 single base substitution C T missense_variant P249S 745C>T SKCM-US 4 184432048 184432048 single base substitution T A downstream_gene_variant SKCM-US 4 184432048 184432048 single base substitution T A missense_variant N222K 666T>A SKCM-US 4 184432048 184432048 single base substitution T A missense_variant N262K 786T>A STAD-US 4 184431507 184431507 single base substitution T C missense_variant L42P 125T>C STAD-US 4 184431507 184431507 single base substitution T C missense_variant L82P 245T>C STAD-US 4 184432040 184432040 single base substitution G T downstream_gene_variant STAD-US 4 184432040 184432040 single base substitution G T stop_gained G220* 658G>T STAD-US 4 184432040 184432040 single base substitution G T stop_gained G260* 778G>T UCEC-US 4 184431528 184431528 single base substitution C T missense_variant A49V 146C>T UCEC-US 4 184431528 184431528 single base substitution C T missense_variant A89V 266C>T UCEC-US 4 184431587 184431587 single base substitution G T stop_gained E109* 325G>T UCEC-US 4 184431587 184431587 single base substitution G T stop_gained E69* 205G>T UCEC-US 4 184431867 184431867 single base substitution C T downstream_gene_variant UCEC-US 4 184431867 184431867 single base substitution C T missense_variant P162L 485C>T UCEC-US 4 184431867 184431867 single base substitution C T missense_variant P202L 605C>T UCEC-US 4 184432022 184432022 single base substitution T C downstream_gene_variant UCEC-US 4 184432022 184432022 single base substitution T C missense_variant Y214H 640T>C UCEC-US 4 184432022 184432022 single base substitution T C missense_variant Y254H 760T>C

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand ESCC-183T COSM3940821 c.398G>A p.R133Q Substitution - Missense 4:183510507-183510507 + TCGA-BR-8080-01 COSM4123656 c.245T>C p.L82P Substitution - Missense 4:183510354-183510354 + 2173_T COSM3946220 c.749A>G p.K250R Substitution - Missense 4:183510858-183510858 + TCGA-13-0760-01 COSM75012 c.759G>T p.W253C Substitution - Missense 4:183510868-183510868 + TCGA-DD-A1EB-01 COSM4928865 c.469A>G p.T157A Substitution - Missense 4:183510578-183510578 + HCT-116 COSM1671449 c.457C>A p.R153S Substitution - Missense 4:183510566-183510566 + PDA_031 COSM4999509 c.232C>A p.Q78K Substitution - Missense 4:183510341-183510341 + PT09_1 COSM4331132 c.173-1G>A p.? Unknown 4:183510281-183510281 + NB-0478 COSM1285541 c.412G>C p.A138P Substitution - Missense 4:183510521-183510521 + TCGA-B5-A0JR-01 COSM1053621 c.605C>T p.P202L Substitution - Missense 4:183510714-183510714 + TCGA-EE-A29M-06 COSM3602381 c.340C>T p.R114W Substitution - Missense 4:183510449-183510449 + TCGA-AA-3663-01 COSM1428809 c.445T>C p.S149P Substitution - Missense 4:183510554-183510554 + EW8 COSM3338189 c.514G>T p.D172Y Substitution - Missense 4:183510623-183510623 + TCGA-FS-A1ZW-06 COSM3602380 c.309T>A p.I103I Substitution - coding silent 4:183510418-183510418 + PTC-28C COSM447656 c.39C>T p.A13A Substitution - coding silent 4:183505234-183505234 + M003-PB_Prog COSM1738957 c.120C>G p.H40Q Substitution - Missense 4:183505315-183505315 + TCGA-BS-A0UV-01 COSM1053620 c.325G>T p.E109* Substitution - Nonsense 4:183510434-183510434 + TCGA-32-2632-01 COSM261422 c.202G>A p.E68K Substitution - Missense 4:183510311-183510311 + HCT116 COSM1671449 c.457C>A p.R153S Substitution - Missense 4:183510566-183510566 + TCGA-EI-6507-01 COSM5078277 c.521A>G p.D174G Substitution - Missense 4:183510630-183510630 + TCGA-46-3769-01 COSM732954 c.610G>C p.E204Q Substitution - Missense 4:183510719-183510719 + TCGA-AD-5900-01 COSM1428813 c.819delA p.K275fs*>6 Deletion - Frameshift 4:183510928-183510928 + EW8 COSM3338190 c.515A>C p.D172A Substitution - Missense 4:183510624-183510624 + M003-PB COSM1738957 c.120C>G p.H40Q Substitution - Missense 4:183505315-183505315 + S00943 COSM311997 c.200A>G p.Y67C Substitution - Missense 4:183510309-183510309 + TCGA-BT-A42C-01 COSM4390133 c.475G>A p.E159K Substitution - Missense 4:183510584-183510584 + ITNET_0026_T COSM4963845 c.696G>T p.Q232H Substitution - Missense 4:183510805-183510805 + ESCC_112 COSM5639504 c.1A>G p.M1V Substitution - Missense 4:183505196-183505196 + TCGA-CD-A4MG-01 COSM4123657 c.778G>T p.G260* Substitution - Nonsense 4:183510887-183510887 + CSCC-4-T COSM4549231 c.467G>C p.R156P Substitution - Missense 4:183510576-183510576 + P124 COSM1736770 c.642C>G p.Y214* Substitution - Nonsense 4:183510751-183510751 + SA228 COSM214077 c.278G>C p.S93T Substitution - Missense 4:183510387-183510387 + N-Thy015 COSM5095311 c.833G>A p.R278K Substitution - Missense 4:183510942-183510942 + PCSI_0181_Pa_X COSM3380880 c.54G>A p.G18G Substitution - coding silent 4:183505249-183505249 + PT09_2 COSM4331132 c.173-1G>A p.? Unknown 4:183510281-183510281 + TCGA-C8-A26Y-01 COSM3825584 c.602C>T p.S201L Substitution - Missense 4:183510711-183510711 + QC2-20-T2 COSM5652793 c.624T>G p.D208E Substitution - Missense 4:183510733-183510733 + TCGA-EE-A3J7-06 COSM3917516 c.745C>T p.P249S Substitution - Missense 4:183510854-183510854 + PET026T COSM4963845 c.696G>T p.Q232H Substitution - Missense 4:183510805-183510805 + 1517_PT COSM5756461 c.613T>C p.F205L Substitution - Missense 4:183510722-183510722 + 585208 COSM325550 c.469A>T p.T157S Substitution - Missense 4:183510578-183510578 + YUKLAB COSM1695293 c.116_117CC>TT p.P39L Substitution - Missense 4:183505311-183505312 + TCGA-D1-A103-01 COSM1053619 c.266C>T p.A89V Substitution - Missense 4:183510375-183510375 + TCGA-AZ-4315-01 COSM1428810 c.679G>A p.G227R Substitution - Missense 4:183510788-183510788 + TCGA-B5-A11E-01 COSM1053622 c.760T>C p.Y254H Substitution - Missense 4:183510869-183510869 + TCGA-AG-A002-01 COSM261422 c.202G>A p.E68K Substitution - Missense 4:183510311-183510311 + TCGA-EB-A24D-01 COSM3602382 c.786T>A p.N262K Substitution - Missense 4:183510895-183510895 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.107153 4q35.1 604215 2437390|CGAP|BC030128|C/T|coding|Ala13Ala|164|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.Y67C c.200A>G 4 184431462 SCLC A T Missense p.T157S c.469A>T 4 184431731 SCLC C A Missense p.R153S c.457C>A 4 184431719 CM C T Missense p.P202L c.605C>T 4 184431867 UCEC C T Missense p.P249S c.745C>T 4 184432007 CM C T Missense p.R114W c.340C>T 4 184431602 CM G A Missense p.E68K c.202G>A 4 184431464 GBM G C Missense p.A138P c.412G>C 4 184431674 NB G C Missense p.E204Q c.610G>C 4 184431872 LUSC G C Missense p.S93T c.278G>C 4 184431540 BRCA G C Missense p.W253C c.759G>C 4 184432021 HNSC G T Missense p.W253C c.759G>T 4 184432021 OV T A Missense p.N262K c.786T>A 4 184432048 CM T A Synonymous p.I103I c.309T>A 4 184431571 CM