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 COAD 5 68868294 68868294 + Silent SNP G G A TCGA-AA-3833-01A-01W-0900-09 TCGA-AA-3833-10A-01W-0900-09 g.chr5:68868294G>A c.387G>A c.(385-387)acG>acA p.T129T COADREAD 5 68868294 68868294 + Silent SNP G G A TCGA-AA-3833-01A-01W-0900-09 TCGA-AA-3833-10A-01W-0900-09 g.chr5:68868294G>A c.387G>A c.(385-387)acG>acA p.T129T LUAD 5 68868340 68868340 + Missense_Mutation SNP C C G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 g.chr5:68868340C>G c.433C>G c.(433-435)Ctt>Gtt p.L145V LUAD 5 68875649 68875649 + Missense_Mutation SNP C C G TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 g.chr5:68875649C>G c.715C>G c.(715-717)Cct>Gct p.P239A PAAD 5 68875685 68875685 + Missense_Mutation SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 g.chr5:68875685C>A c.751C>A c.(751-753)Cgt>Agt p.R251S

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 5 68886219 68886219 single base substitution T A downstream_gene_variant BLCA-CN 5 68886219 68886219 single base substitution T A intron_variant BLCA-CN 5 68886219 68886219 single base substitution T A upstream_gene_variant BOCA-FR 5 68858504 68858504 single base substitution G T 5_prime_UTR_variant BOCA-FR 5 68858504 68858504 single base substitution G T exon_variant BOCA-FR 5 68858504 68858504 single base substitution G T intron_variant BOCA-FR 5 68858504 68858504 single base substitution G T upstream_gene_variant BRCA-EU 5 68854709 68854709 single base substitution A T upstream_gene_variant BRCA-EU 5 68855413 68855413 single base substitution G A upstream_gene_variant BRCA-EU 5 68855801 68855801 single base substitution C T upstream_gene_variant BRCA-EU 5 68855855 68855855 single base substitution G C upstream_gene_variant BRCA-EU 5 68856085 68856085 single base substitution G T 5_prime_UTR_variant BRCA-EU 5 68856085 68856085 single base substitution G T exon_variant BRCA-EU 5 68856085 68856085 single base substitution G T intron_variant BRCA-EU 5 68856085 68856085 single base substitution G T upstream_gene_variant BRCA-EU 5 68856912 68856912 single base substitution G C intron_variant BRCA-EU 5 68856912 68856912 single base substitution G C upstream_gene_variant BRCA-EU 5 68857770 68857770 single base substitution G C intron_variant BRCA-EU 5 68857770 68857770 single base substitution G C upstream_gene_variant BRCA-EU 5 68858148 68858148 single base substitution C G intron_variant BRCA-EU 5 68858148 68858148 single base substitution C G upstream_gene_variant BRCA-EU 5 68863478 68863478 single base substitution C T downstream_gene_variant BRCA-EU 5 68863478 68863478 single base substitution C T intron_variant BRCA-EU 5 68863901 68863901 single base substitution C T downstream_gene_variant BRCA-EU 5 68863901 68863901 single base substitution C T intron_variant BRCA-EU 5 68864177 68864177 single base substitution C A downstream_gene_variant BRCA-EU 5 68864177 68864177 single base substitution C A intron_variant BRCA-EU 5 68869023 68869023 single base substitution A T downstream_gene_variant BRCA-EU 5 68869023 68869023 single base substitution A T intron_variant BRCA-EU 5 68890559 68890559 single base substitution A G downstream_gene_variant BRCA-FR 5 68856418 68856418 single base substitution C A exon_variant BRCA-FR 5 68856418 68856418 single base substitution C A intron_variant BRCA-FR 5 68856418 68856418 single base substitution C A upstream_gene_variant BRCA-FR 5 68863478 68863478 single base substitution C T downstream_gene_variant BRCA-FR 5 68863478 68863478 single base substitution C T intron_variant BRCA-FR 5 68863901 68863901 single base substitution C T downstream_gene_variant BRCA-FR 5 68863901 68863901 single base substitution C T intron_variant BRCA-FR 5 68864177 68864177 single base substitution C A downstream_gene_variant BRCA-FR 5 68864177 68864177 single base substitution C A intron_variant BRCA-UK 5 68854709 68854709 single base substitution A T upstream_gene_variant BRCA-UK 5 68857202 68857202 single base substitution G T intron_variant BRCA-UK 5 68857202 68857202 single base substitution G T upstream_gene_variant BTCA-JP 5 68862364 68862365 deletion of <=200bp GG - downstream_gene_variant BTCA-JP 5 68862364 68862365 deletion of <=200bp GG - intron_variant COAD-US 5 68862431 68862431 single base substitution T C downstream_gene_variant COAD-US 5 68862431 68862431 single base substitution T C exon_variant COAD-US 5 68862431 68862431 single base substitution T C intron_variant COAD-US 5 68862431 68862431 single base substitution T C synonymous_variant H50H 150T>C COCA-CN 5 68854040 68854040 single base substitution C A upstream_gene_variant COCA-CN 5 68859047 68859047 single base substitution T G intron_variant COCA-CN 5 68859047 68859047 single base substitution T G upstream_gene_variant COCA-CN 5 68862303 68862303 single base substitution A C downstream_gene_variant COCA-CN 5 68862303 68862303 single base substitution A C exon_variant COCA-CN 5 68862303 68862303 single base substitution A C intron_variant COCA-CN 5 68862365 68862365 single base substitution G T downstream_gene_variant COCA-CN 5 68862365 68862365 single base substitution G T intron_variant ESAD-UK 5 68855849 68855849 single base substitution C A upstream_gene_variant ESCA-CN 5 68868345 68868345 single base substitution T C 3_prime_UTR_variant ESCA-CN 5 68868345 68868345 single base substitution T C downstream_gene_variant ESCA-CN 5 68868345 68868345 single base substitution T C exon_variant ESCA-CN 5 68868345 68868345 single base substitution T C intron_variant ESCA-CN 5 68868345 68868345 single base substitution T C synonymous_variant Y129Y 387T>C ESCA-CN 5 68868345 68868345 single base substitution T C synonymous_variant Y146Y 438T>C ESCA-CN 5 68868345 68868345 single base substitution T C synonymous_variant Y89Y 267T>C LAML-KR 5 68851088 68851088 single base substitution A T upstream_gene_variant LAML-KR 5 68874621 68874621 single base substitution C T 3_prime_UTR_variant LAML-KR 5 68874621 68874621 single base substitution C T downstream_gene_variant LAML-KR 5 68874621 68874621 single base substitution C T exon_variant LAML-KR 5 68874621 68874621 single base substitution C T intron_variant LAML-KR 5 68874621 68874621 single base substitution C T synonymous_variant L128L 382C>T LAML-KR 5 68874621 68874621 single base substitution C T synonymous_variant L168L 502C>T LAML-KR 5 68874621 68874621 single base substitution C T synonymous_variant L185L 553C>T LAML-KR 5 68876280 68876280 single base substitution G T downstream_gene_variant LAML-KR 5 68876280 68876280 single base substitution G T intron_variant LAML-KR 5 68881315 68881315 single base substitution C T downstream_gene_variant LAML-KR 5 68881315 68881315 single base substitution C T intron_variant LAML-KR 5 68887144 68887144 single base substitution C T intron_variant LAML-KR 5 68887144 68887144 single base substitution C T upstream_gene_variant LICA-FR 5 68863414 68863414 single base substitution T C downstream_gene_variant LICA-FR 5 68863414 68863414 single base substitution T C intron_variant LICA-FR 5 68867925 68867925 single base substitution G A downstream_gene_variant LICA-FR 5 68867925 68867925 single base substitution G A intron_variant LICA-FR 5 68895131 68895131 single base substitution G A downstream_gene_variant LUSC-KR 5 68855890 68855890 single base substitution C G upstream_gene_variant LUSC-KR 5 68868255 68868255 single base substitution C T downstream_gene_variant LUSC-KR 5 68868255 68868255 single base substitution C T intron_variant LUSC-KR 5 68874621 68874621 single base substitution C T 3_prime_UTR_variant LUSC-KR 5 68874621 68874621 single base substitution C T downstream_gene_variant LUSC-KR 5 68874621 68874621 single base substitution C T exon_variant LUSC-KR 5 68874621 68874621 single base substitution C T intron_variant LUSC-KR 5 68874621 68874621 single base substitution C T synonymous_variant L128L 382C>T LUSC-KR 5 68874621 68874621 single base substitution C T synonymous_variant L168L 502C>T LUSC-KR 5 68874621 68874621 single base substitution C T synonymous_variant L185L 553C>T LUSC-KR 5 68876280 68876280 single base substitution G T downstream_gene_variant LUSC-KR 5 68876280 68876280 single base substitution G T intron_variant LUSC-KR 5 68878639 68878639 single base substitution C T downstream_gene_variant LUSC-KR 5 68878639 68878639 single base substitution C T intron_variant LUSC-KR 5 68881315 68881315 single base substitution C T downstream_gene_variant LUSC-KR 5 68881315 68881315 single base substitution C T intron_variant LUSC-KR 5 68887289 68887289 single base substitution T C intron_variant LUSC-KR 5 68887289 68887289 single base substitution T C upstream_gene_variant MELA-AU 5 68855997 68855997 single base substitution C T upstream_gene_variant MELA-AU 5 68855998 68855998 single base substitution C T upstream_gene_variant MELA-AU 5 68856603 68856603 single base substitution C T intron_variant MELA-AU 5 68856603 68856603 single base substitution C T upstream_gene_variant MELA-AU 5 68858549 68858549 single base substitution G A 5_prime_UTR_variant MELA-AU 5 68858549 68858549 single base substitution G A exon_variant MELA-AU 5 68858549 68858549 single base substitution G A intron_variant MELA-AU 5 68858549 68858549 single base substitution G A upstream_gene_variant MELA-AU 5 68859693 68859694 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 68859693 68859694 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 5 68860767 68860767 single base substitution T G intron_variant MELA-AU 5 68860767 68860767 single base substitution T G upstream_gene_variant MELA-AU 5 68861705 68861706 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 5 68861705 68861706 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 5 68861705 68861706 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 68862194 68862194 single base substitution C T downstream_gene_variant MELA-AU 5 68862194 68862194 single base substitution C T exon_variant MELA-AU 5 68862194 68862194 single base substitution C T intron_variant MELA-AU 5 68869030 68869030 single base substitution C T downstream_gene_variant MELA-AU 5 68869030 68869030 single base substitution C T intron_variant MELA-AU 5 68882841 68882841 single base substitution C T downstream_gene_variant MELA-AU 5 68882841 68882841 single base substitution C T intron_variant MELA-AU 5 68887372 68887372 single base substitution C T intron_variant MELA-AU 5 68887372 68887372 single base substitution C T upstream_gene_variant ORCA-IN 5 68860676 68860676 single base substitution C G intron_variant ORCA-IN 5 68860676 68860676 single base substitution C G upstream_gene_variant OV-AU 5 68859677 68859677 single base substitution G A intron_variant OV-AU 5 68859677 68859677 single base substitution G A upstream_gene_variant OV-AU 5 68867887 68867887 single base substitution G A downstream_gene_variant OV-AU 5 68867887 68867887 single base substitution G A intron_variant OV-AU 5 68876002 68876002 single base substitution T A downstream_gene_variant OV-AU 5 68876002 68876002 single base substitution T A intron_variant PACA-AU 5 68856068 68856068 single base substitution C G exon_variant PACA-AU 5 68856068 68856068 single base substitution C G splice_region_variant PACA-AU 5 68856068 68856068 single base substitution C G upstream_gene_variant PACA-AU 5 68856121 68856121 single base substitution G T 5_prime_UTR_variant PACA-AU 5 68856121 68856121 single base substitution G T exon_variant PACA-AU 5 68856121 68856121 single base substitution G T intron_variant PACA-AU 5 68856121 68856121 single base substitution G T upstream_gene_variant PACA-AU 5 68862312 68862312 single base substitution A C downstream_gene_variant PACA-AU 5 68862312 68862312 single base substitution A C exon_variant PACA-AU 5 68862312 68862312 single base substitution A C intron_variant PACA-AU 5 68868970 68868970 single base substitution T C downstream_gene_variant PACA-AU 5 68868970 68868970 single base substitution T C intron_variant PACA-AU 5 68875997 68875997 single base substitution G A downstream_gene_variant PACA-AU 5 68875997 68875997 single base substitution G A intron_variant PACA-AU 5 68877332 68877332 single base substitution A G downstream_gene_variant PACA-AU 5 68877332 68877332 single base substitution A G intron_variant PACA-CA 5 68860725 68860725 single base substitution G A intron_variant PACA-CA 5 68860725 68860725 single base substitution G A upstream_gene_variant PBCA-DE 5 68864231 68864233 deletion of <=200bp CAT - downstream_gene_variant PBCA-DE 5 68864231 68864233 deletion of <=200bp CAT - intron_variant PRAD-UK 5 68855387 68855387 single base substitution A T upstream_gene_variant PRAD-UK 5 68864231 68864233 deletion of <=200bp CAT - downstream_gene_variant PRAD-UK 5 68864231 68864233 deletion of <=200bp CAT - intron_variant PRAD-UK 5 68875586 68875586 single base substitution A G downstream_gene_variant PRAD-UK 5 68875586 68875586 single base substitution A G intron_variant PRAD-UK 5 68875586 68875586 single base substitution A G missense_variant T161A 481A>G PRAD-UK 5 68875586 68875586 single base substitution A G missense_variant T201A 601A>G PRAD-UK 5 68875586 68875586 single base substitution A G missense_variant T218A 652A>G PRAD-UK 5 68875586 68875586 single base substitution A G splice_region_variant PRAD-UK 5 68887298 68887298 single base substitution T A intron_variant PRAD-UK 5 68887298 68887298 single base substitution T A upstream_gene_variant RECA-EU 5 68859677 68859677 single base substitution G A intron_variant RECA-EU 5 68859677 68859677 single base substitution G A upstream_gene_variant SKCA-BR 5 68851085 68851088 deletion of <=200bp TGTA - upstream_gene_variant SKCA-BR 5 68855938 68855938 single base substitution C T upstream_gene_variant SKCA-BR 5 68864632 68864632 single base substitution G A 3_prime_UTR_variant SKCA-BR 5 68864632 68864632 single base substitution G A downstream_gene_variant SKCA-BR 5 68864632 68864632 single base substitution G A intron_variant SKCA-BR 5 68868096 68868096 single base substitution T C downstream_gene_variant SKCA-BR 5 68868096 68868096 single base substitution T C intron_variant SKCA-BR 5 68868714 68868714 single base substitution T A downstream_gene_variant SKCA-BR 5 68868714 68868714 single base substitution T A intron_variant SKCA-BR 5 68876910 68876910 single base substitution G A downstream_gene_variant SKCA-BR 5 68876910 68876910 single base substitution G A intron_variant SKCA-BR 5 68882559 68882560 deletion of <=200bp AC - downstream_gene_variant SKCA-BR 5 68882559 68882560 deletion of <=200bp AC - intron_variant SKCA-BR 5 68887285 68887285 insertion of <=200bp - CT intron_variant SKCA-BR 5 68887285 68887285 insertion of <=200bp - CT upstream_gene_variant SKCA-BR 5 68895425 68895425 insertion of <=200bp - TG downstream_gene_variant STAD-US 5 68875669 68875669 single base substitution T C 3_prime_UTR_variant STAD-US 5 68875669 68875669 single base substitution T C downstream_gene_variant STAD-US 5 68875669 68875669 single base substitution T C intron_variant STAD-US 5 68875669 68875669 single base substitution T C synonymous_variant S188S 564T>C STAD-US 5 68875669 68875669 single base substitution T C synonymous_variant S228S 684T>C STAD-US 5 68875669 68875669 single base substitution T C synonymous_variant S245S 735T>C UCEC-US 5 68868311 68868311 single base substitution T C 3_prime_UTR_variant UCEC-US 5 68868311 68868311 single base substitution T C downstream_gene_variant UCEC-US 5 68868311 68868311 single base substitution T C exon_variant UCEC-US 5 68868311 68868311 single base substitution T C intron_variant UCEC-US 5 68868311 68868311 single base substitution T C missense_variant V118A 353T>C UCEC-US 5 68868311 68868311 single base substitution T C missense_variant V135A 404T>C UCEC-US 5 68868311 68868311 single base substitution T C missense_variant V78A 233T>C UCEC-US 5 68874889 68874889 single base substitution G A 3_prime_UTR_variant UCEC-US 5 68874889 68874889 single base substitution G A downstream_gene_variant UCEC-US 5 68874889 68874889 single base substitution G A exon_variant UCEC-US 5 68874889 68874889 single base substitution G A intron_variant UCEC-US 5 68874889 68874889 single base substitution G A synonymous_variant L144L 432G>A UCEC-US 5 68874889 68874889 single base substitution G A synonymous_variant L184L 552G>A UCEC-US 5 68874889 68874889 single base substitution G A synonymous_variant L201L 603G>A UCEC-US 5 68875589 68875589 single base substitution T C 3_prime_UTR_variant UCEC-US 5 68875589 68875589 single base substitution T C downstream_gene_variant UCEC-US 5 68875589 68875589 single base substitution T C exon_variant UCEC-US 5 68875589 68875589 single base substitution T C intron_variant UCEC-US 5 68875589 68875589 single base substitution T C missense_variant Y162H 484T>C UCEC-US 5 68875589 68875589 single base substitution T C missense_variant Y202H 604T>C UCEC-US 5 68875589 68875589 single base substitution T C missense_variant Y219H 655T>C

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-AP-A054-01 COSM1069756 c.404T>C p.V135A Substitution - Missense 5:69572484-69572484 + 0091_CRUK_PC_0091_T1_DNA COSM4420119 c.652A>G p.T218A Substitution - Missense 5:69579759-69579759 + TCGA-CK-5913-01 COSM3072313 c.150T>C p.H50H Substitution - coding silent 5:69566604-69566604 + Pat_41_B COSM5868762 c.751C>T p.R251C Substitution - Missense 5:69579858-69579858 + TCGA-BR-4368-01 COSM3856128 c.735T>C p.S245S Substitution - coding silent 5:69579842-69579842 + TCGA-AA-3833-01 COSM271291 c.387G>A p.T129T Substitution - coding silent 5:69572467-69572467 + CN-AML-CR-27-Dx COSM5424491 c.553C>T p.L185L Substitution - coding silent 5:69578794-69578794 + TCGA-AP-A051-01 COSM1069758 c.655T>C p.Y219H Substitution - Missense 5:69579762-69579762 + CSCC-16-T COSM4589815 c.649+1_649+2insTA p.? Unknown 5:69579109-69579110 + 422_T COSM3947685 c.462G>A p.Q154Q Substitution - coding silent 5:69572542-69572542 + 587342 COSM1209162 c.370C>T p.P124S Substitution - Missense 5:69572450-69572450 + ZZUFHECRKL-G011T COSM5445260 c.438T>C p.Y146Y Substitution - coding silent 5:69572518-69572518 + LUAD-F00089 COSM339862 c.117C>G p.F39L Substitution - Missense 5:69566191-69566191 + TCGA-AP-A059-01 COSM1069757 c.603G>A p.L201L Substitution - coding silent 5:69579062-69579062 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.191356 5q13.2 Hs.422901 5q13.2

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer C T IntronicSNV . c.134+83C>T 5 68862118 CM G A Missense p.S242N c.725G>A 5 68875659 CM G T Nonsense p.E225* c.673G>T 5 68875607 CM T C Missense p.V135A c.404T>C 5 68868311 UCEC T C Synonymous p.S245S c.735T>C 5 68875669 STAD