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 2 68691345 68691345 + Missense_Mutation SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 g.chr2:68691345C>G c.464G>C c.(463-465)aGa>aCa p.R155T BLCA 2 68692015 68692015 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 g.chr2:68692015C>G c.263G>C c.(262-264)cGa>cCa p.R88P BLCA 2 68692016 68692016 + Missense_Mutation SNP G G C TCGA-FD-A3NA-01A-11D-A21A-08 TCGA-FD-A3NA-10A-01D-A21A-08 g.chr2:68692016G>C c.262C>G c.(262-264)Cga>Gga p.R88G COAD 2 68692131 68692131 + Silent SNP C C T TCGA-CK-5913-01A-11D-1650-10 TCGA-CK-5913-10A-01D-1650-10 g.chr2:68692131C>T c.147G>A c.(145-147)caG>caA p.Q49Q COAD 2 68692174 68692174 + Missense_Mutation SNP A A C TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr2:68692174A>C c.104T>G c.(103-105)tTt>tGt p.F35C COAD 2 68692187 68692187 + Nonsense_Mutation SNP G G A TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr2:68692187G>A c.91C>T c.(91-93)Caa>Taa p.Q31* COAD 2 68692231 68692231 + Missense_Mutation SNP G G C TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr2:68692231G>C c.47C>G c.(46-48)aCa>aGa p.T16R COADREAD 2 68691402 68691403 + Frame_Shift_Ins INS - - T TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr2:68691402_68691403insT c.406_407insA c.(406-408)atcfs p.I136fs COADREAD 2 68692121 68692121 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:68692121G>A c.157C>T c.(157-159)Cgg>Tgg p.R53W COADREAD 2 68692131 68692131 + Silent SNP C C T TCGA-CK-5913-01A-11D-1650-10 TCGA-CK-5913-10A-01D-1650-10 g.chr2:68692131C>T c.147G>A c.(145-147)caG>caA p.Q49Q COADREAD 2 68692174 68692174 + Missense_Mutation SNP A A C TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr2:68692174A>C c.104T>G c.(103-105)tTt>tGt p.F35C COADREAD 2 68692187 68692187 + Nonsense_Mutation SNP G G A TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr2:68692187G>A c.91C>T c.(91-93)Caa>Taa p.Q31* COADREAD 2 68692231 68692231 + Missense_Mutation SNP G G C TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr2:68692231G>C c.47C>G c.(46-48)aCa>aGa p.T16R HNSC 2 68691399 68691400 + Frame_Shift_Del DEL AT AT - TCGA-CV-7177-01A-11D-2012-08 TCGA-CV-7177-10A-01D-2013-08 g.chr2:68691399_68691400delAT c.409_410delAT c.(409-411)atgfs p.M137fs HNSC 2 68691491 68691491 + Silent SNP C C T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 g.chr2:68691491C>T c.318G>A c.(316-318)ctG>ctA p.L106L HNSC 2 68691500 68691500 + Silent SNP C C T TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 g.chr2:68691500C>T c.309G>A c.(307-309)gtG>gtA p.V103V LUAD 2 68692136 68692136 + Missense_Mutation SNP T T C TCGA-86-7711-01A-11D-2063-08 TCGA-86-7711-10A-01D-2063-08 g.chr2:68692136T>C c.142A>G c.(142-144)Agt>Ggt p.S48G PAAD 2 68691350 68691350 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr2:68691350C>T c.459G>A c.(457-459)ctG>ctA p.L153L READ 2 68691402 68691403 + Frame_Shift_Ins INS - - T TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr2:68691402_68691403insT c.406_407insA c.(406-408)atcfs p.I136fs READ 2 68692121 68692121 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:68692121G>A c.157C>T c.(157-159)Cgg>Tgg p.R53W SARC 2 68691360 68691360 + Missense_Mutation SNP T T A TCGA-IW-A3M4-01A-11D-A21Q-09 TCGA-IW-A3M4-10B-01D-A21Q-09 g.chr2:68691360T>A c.449A>T c.(448-450)gAa>gTa p.E150V SKCM 2 68691401 68691401 + Silent SNP G G A TCGA-RP-A695-06A-11D-A30X-08 TCGA-RP-A695-10A-01D-A30X-08 g.chr2:68691401G>A c.408C>T c.(406-408)atC>atT p.I136I SKCM 2 68692015 68692015 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 g.chr2:68692015C>T c.263G>A c.(262-264)cGa>cAa p.R88Q

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 2 68692012 68692012 single base substitution C G missense_variant R89T 266G>C BLCA-US 2 68691345 68691345 single base substitution C G missense_variant R155T 464G>C BLCA-US 2 68692016 68692016 single base substitution G C missense_variant R88G 262C>G BRCA-EU 2 68682447 68682447 single base substitution C T downstream_gene_variant BRCA-EU 2 68682998 68682998 single base substitution C T downstream_gene_variant BRCA-EU 2 68683170 68683170 single base substitution C A downstream_gene_variant BRCA-EU 2 68683623 68683623 single base substitution G T downstream_gene_variant BRCA-EU 2 68685958 68685958 single base substitution C T downstream_gene_variant BRCA-EU 2 68688212 68688212 single base substitution C G 3_prime_UTR_variant BRCA-EU 2 68688832 68688832 single base substitution C G 3_prime_UTR_variant BRCA-EU 2 68689341 68689341 deletion of <=200bp A - 3_prime_UTR_variant BRCA-EU 2 68689498 68689498 deletion of <=200bp T - 3_prime_UTR_variant BRCA-EU 2 68689550 68689550 single base substitution C T 3_prime_UTR_variant BRCA-EU 2 68689977 68689977 single base substitution A T 3_prime_UTR_variant BRCA-EU 2 68690325 68690325 single base substitution A G 3_prime_UTR_variant BRCA-EU 2 68690598 68690598 single base substitution G C 3_prime_UTR_variant BRCA-EU 2 68691329 68691329 deletion of <=200bp T - 3_prime_UTR_variant BRCA-EU 2 68691367 68691367 single base substitution T A missense_variant I148F 442A>T BRCA-EU 2 68691594 68691594 deletion of <=200bp A - intron_variant BRCA-EU 2 68692843 68692843 single base substitution G A intron_variant BRCA-EU 2 68693228 68693228 single base substitution T A intron_variant BRCA-EU 2 68694715 68694715 single base substitution C T upstream_gene_variant BRCA-EU 2 68696752 68696752 single base substitution G A upstream_gene_variant BRCA-EU 2 68697587 68697587 single base substitution T A upstream_gene_variant BRCA-EU 2 68699009 68699009 single base substitution C T upstream_gene_variant BRCA-FR 2 68693228 68693228 single base substitution T A intron_variant BRCA-UK 2 68694754 68694754 single base substitution C T upstream_gene_variant BTCA-JP 2 68691329 68691329 deletion of <=200bp T - 3_prime_UTR_variant BTCA-JP 2 68692225 68692225 single base substitution G A missense_variant A18V 53C>T CLLE-ES 2 68686001 68686001 single base substitution A C downstream_gene_variant COAD-US 2 68692131 68692131 single base substitution C T synonymous_variant Q49Q 147G>A COAD-US 2 68692174 68692174 single base substitution A C missense_variant F35C 104T>G COAD-US 2 68692187 68692187 single base substitution G A stop_gained Q31* 91C>T COAD-US 2 68692231 68692231 single base substitution G C missense_variant T16R 47C>G COCA-CN 2 68691336 68691336 single base substitution T C 3_prime_UTR_variant COCA-CN 2 68692093 68692093 single base substitution C T missense_variant C62Y 185G>A COCA-CN 2 68694918 68694918 single base substitution G A upstream_gene_variant ESAD-UK 2 68682313 68682313 single base substitution G A downstream_gene_variant ESAD-UK 2 68683183 68683183 single base substitution C T downstream_gene_variant ESAD-UK 2 68685228 68685228 single base substitution T G downstream_gene_variant ESAD-UK 2 68685723 68685723 single base substitution T C downstream_gene_variant ESAD-UK 2 68686981 68686981 single base substitution A G 3_prime_UTR_variant ESAD-UK 2 68688868 68688868 single base substitution A C 3_prime_UTR_variant ESAD-UK 2 68689551 68689551 single base substitution G A 3_prime_UTR_variant ESAD-UK 2 68690597 68690597 single base substitution A G 3_prime_UTR_variant ESAD-UK 2 68690743 68690743 single base substitution G A 3_prime_UTR_variant ESAD-UK 2 68694499 68694499 single base substitution T G upstream_gene_variant ESAD-UK 2 68694569 68694569 single base substitution A C upstream_gene_variant ESAD-UK 2 68694569 68694569 single base substitution A T upstream_gene_variant ESAD-UK 2 68695066 68695066 single base substitution C T upstream_gene_variant ESAD-UK 2 68696939 68696939 single base substitution G A upstream_gene_variant ESAD-UK 2 68698065 68698065 single base substitution A C upstream_gene_variant LINC-JP 2 68689276 68689276 single base substitution T C 3_prime_UTR_variant LINC-JP 2 68690257 68690257 single base substitution T C 3_prime_UTR_variant LINC-JP 2 68690956 68690956 single base substitution C A 3_prime_UTR_variant LINC-JP 2 68691329 68691329 deletion of <=200bp T - 3_prime_UTR_variant LINC-JP 2 68691479 68691479 single base substitution C A missense_variant Q110H 330G>T LINC-JP 2 68691914 68691914 single base substitution G A intron_variant LINC-JP 2 68692241 68692241 single base substitution C T missense_variant V13I 37G>A LIRI-JP 2 68682104 68682104 single base substitution T A downstream_gene_variant LIRI-JP 2 68682332 68682332 single base substitution C T downstream_gene_variant LIRI-JP 2 68683604 68683604 single base substitution G A downstream_gene_variant LIRI-JP 2 68685904 68685904 single base substitution T G downstream_gene_variant LIRI-JP 2 68686498 68686498 single base substitution C T downstream_gene_variant LIRI-JP 2 68688405 68688405 single base substitution T C 3_prime_UTR_variant LIRI-JP 2 68690352 68690352 single base substitution T C 3_prime_UTR_variant LIRI-JP 2 68691262 68691262 single base substitution A G 3_prime_UTR_variant LIRI-JP 2 68691667 68691667 single base substitution A C intron_variant LIRI-JP 2 68691671 68691671 single base substitution G A intron_variant LIRI-JP 2 68692007 68692007 single base substitution T C missense_variant I91V 271A>G LIRI-JP 2 68692527 68692527 single base substitution G T intron_variant LIRI-JP 2 68693328 68693328 single base substitution A C 5_prime_UTR_variant LUSC-KR 2 68688583 68688583 single base substitution C G 3_prime_UTR_variant LUSC-KR 2 68689650 68689650 single base substitution C A 3_prime_UTR_variant LUSC-KR 2 68690037 68690037 single base substitution T A 3_prime_UTR_variant LUSC-KR 2 68692004 68692004 single base substitution C G missense_variant D92H 274G>C MALY-DE 2 68684466 68684466 single base substitution C T downstream_gene_variant MALY-DE 2 68691262 68691262 single base substitution A C 3_prime_UTR_variant MALY-DE 2 68696122 68696123 deletion of <=200bp GT - upstream_gene_variant MELA-AU 2 68681562 68681562 single base substitution C T downstream_gene_variant MELA-AU 2 68681808 68681808 single base substitution G A downstream_gene_variant MELA-AU 2 68681843 68681843 single base substitution C T downstream_gene_variant MELA-AU 2 68682086 68682086 single base substitution C T downstream_gene_variant MELA-AU 2 68682310 68682310 single base substitution C T downstream_gene_variant MELA-AU 2 68682988 68682988 single base substitution G A downstream_gene_variant MELA-AU 2 68683027 68683027 single base substitution G A downstream_gene_variant MELA-AU 2 68683105 68683105 single base substitution C T downstream_gene_variant MELA-AU 2 68683177 68683177 single base substitution C T downstream_gene_variant MELA-AU 2 68683199 68683199 single base substitution G A downstream_gene_variant MELA-AU 2 68683402 68683402 single base substitution G A downstream_gene_variant MELA-AU 2 68683440 68683440 single base substitution G A downstream_gene_variant MELA-AU 2 68683507 68683507 single base substitution G A downstream_gene_variant MELA-AU 2 68683794 68683794 single base substitution C T downstream_gene_variant MELA-AU 2 68683885 68683885 single base substitution C T downstream_gene_variant MELA-AU 2 68683891 68683891 single base substitution G A downstream_gene_variant MELA-AU 2 68684362 68684362 single base substitution C T downstream_gene_variant MELA-AU 2 68684429 68684429 single base substitution C T downstream_gene_variant MELA-AU 2 68684554 68684554 single base substitution G A downstream_gene_variant MELA-AU 2 68684998 68684998 single base substitution G A downstream_gene_variant MELA-AU 2 68685380 68685380 single base substitution T A downstream_gene_variant MELA-AU 2 68685838 68685838 single base substitution G A downstream_gene_variant MELA-AU 2 68686460 68686460 single base substitution C A downstream_gene_variant MELA-AU 2 68686552 68686552 single base substitution G A 3_prime_UTR_variant MELA-AU 2 68687358 68687358 single base substitution G A 3_prime_UTR_variant MELA-AU 2 68687416 68687416 single base substitution G A 3_prime_UTR_variant MELA-AU 2 68687446 68687446 single base substitution A G 3_prime_UTR_variant MELA-AU 2 68687527 68687527 single base substitution G A 3_prime_UTR_variant MELA-AU 2 68687669 68687669 insertion of <=200bp - TA 3_prime_UTR_variant MELA-AU 2 68687871 68687871 single base substitution G A 3_prime_UTR_variant MELA-AU 2 68687928 68687928 single base substitution G T 3_prime_UTR_variant MELA-AU 2 68688242 68688242 single base substitution G A 3_prime_UTR_variant MELA-AU 2 68688259 68688259 single base substitution G A 3_prime_UTR_variant MELA-AU 2 68688776 68688776 single base substitution G A 3_prime_UTR_variant MELA-AU 2 68689452 68689452 single base substitution C T 3_prime_UTR_variant MELA-AU 2 68689485 68689485 single base substitution C T 3_prime_UTR_variant MELA-AU 2 68689512 68689512 single base substitution G A 3_prime_UTR_variant MELA-AU 2 68690150 68690150 single base substitution G A 3_prime_UTR_variant MELA-AU 2 68690614 68690614 single base substitution G A 3_prime_UTR_variant MELA-AU 2 68691086 68691086 single base substitution T C 3_prime_UTR_variant MELA-AU 2 68691235 68691235 single base substitution A T 3_prime_UTR_variant MELA-AU 2 68691258 68691258 single base substitution G A 3_prime_UTR_variant MELA-AU 2 68691339 68691339 single base substitution C T 3_prime_UTR_variant MELA-AU 2 68691774 68691774 single base substitution G A intron_variant MELA-AU 2 68692069 68692069 single base substitution C T missense_variant R70K 209G>A MELA-AU 2 68692582 68692582 single base substitution C T intron_variant MELA-AU 2 68693175 68693175 single base substitution G C intron_variant MELA-AU 2 68693904 68693904 single base substitution C T intron_variant MELA-AU 2 68694132 68694132 single base substitution C T intron_variant MELA-AU 2 68694269 68694269 single base substitution G A intron_variant MELA-AU 2 68694455 68694455 single base substitution G A upstream_gene_variant MELA-AU 2 68694463 68694463 single base substitution G A upstream_gene_variant MELA-AU 2 68694501 68694501 single base substitution C T upstream_gene_variant MELA-AU 2 68694502 68694502 single base substitution C T upstream_gene_variant MELA-AU 2 68694520 68694520 single base substitution G A upstream_gene_variant MELA-AU 2 68694525 68694525 single base substitution G A upstream_gene_variant MELA-AU 2 68694573 68694573 single base substitution G A upstream_gene_variant MELA-AU 2 68694653 68694653 single base substitution C T upstream_gene_variant MELA-AU 2 68694697 68694697 single base substitution C T upstream_gene_variant MELA-AU 2 68694780 68694780 single base substitution T C upstream_gene_variant MELA-AU 2 68694845 68694845 single base substitution G A upstream_gene_variant MELA-AU 2 68696288 68696288 single base substitution C T upstream_gene_variant MELA-AU 2 68696920 68696920 deletion of <=200bp A - upstream_gene_variant MELA-AU 2 68697336 68697336 single base substitution C T upstream_gene_variant MELA-AU 2 68697344 68697344 single base substitution T A upstream_gene_variant MELA-AU 2 68697875 68697875 single base substitution G A upstream_gene_variant MELA-AU 2 68697903 68697903 single base substitution C T upstream_gene_variant MELA-AU 2 68697937 68697937 single base substitution T A upstream_gene_variant MELA-AU 2 68698016 68698016 single base substitution C A upstream_gene_variant MELA-AU 2 68698391 68698391 single base substitution C T upstream_gene_variant MELA-AU 2 68698942 68698942 single base substitution C T upstream_gene_variant MELA-AU 2 68699214 68699214 single base substitution G A upstream_gene_variant MELA-AU 2 68699239 68699239 single base substitution G A upstream_gene_variant ORCA-IN 2 68690723 68690723 single base substitution G C 3_prime_UTR_variant ORCA-IN 2 68692098 68692098 single base substitution C G missense_variant L60F 180G>C OV-AU 2 68684642 68684642 single base substitution G A downstream_gene_variant OV-AU 2 68686886 68686886 single base substitution G A 3_prime_UTR_variant OV-AU 2 68691470 68691470 single base substitution T A missense_variant K113N 339A>T OV-AU 2 68691931 68691931 single base substitution A T intron_variant OV-AU 2 68693192 68693192 single base substitution C T intron_variant OV-AU 2 68694463 68694463 single base substitution G C upstream_gene_variant PACA-AU 2 68689791 68689791 single base substitution C T 3_prime_UTR_variant PACA-AU 2 68694346 68694346 single base substitution G T 5_prime_UTR_variant PACA-AU 2 68696890 68696890 single base substitution G T upstream_gene_variant PACA-AU 2 68696891 68696891 single base substitution T C upstream_gene_variant PACA-AU 2 68698945 68698945 single base substitution T C upstream_gene_variant PACA-CA 2 68686769 68686769 single base substitution T C 3_prime_UTR_variant PACA-CA 2 68687942 68687942 single base substitution C T 3_prime_UTR_variant PACA-CA 2 68692521 68692521 single base substitution G A intron_variant PACA-CA 2 68695471 68695471 single base substitution G T upstream_gene_variant PACA-CA 2 68697357 68697357 single base substitution A G upstream_gene_variant PAEN-AU 2 68689648 68689648 single base substitution C T 3_prime_UTR_variant PAEN-IT 2 68682027 68682027 single base substitution T A downstream_gene_variant PAEN-IT 2 68687129 68687129 single base substitution A C 3_prime_UTR_variant PBCA-DE 2 68684767 68684767 insertion of <=200bp - A downstream_gene_variant PRAD-CA 2 68692669 68692669 single base substitution G A intron_variant PRAD-UK 2 68692382 68692382 single base substitution T G intron_variant PRAD-UK 2 68697986 68697986 single base substitution T C upstream_gene_variant READ-US 2 68691402 68691402 insertion of <=200bp - T frameshift_variant I136I? RECA-EU 2 68683551 68683551 single base substitution G A downstream_gene_variant RECA-EU 2 68689749 68689749 single base substitution C T 3_prime_UTR_variant SKCA-BR 2 68681680 68681680 single base substitution G A downstream_gene_variant SKCA-BR 2 68687446 68687446 single base substitution A T 3_prime_UTR_variant SKCA-BR 2 68687668 68687668 insertion of <=200bp - TTA 3_prime_UTR_variant SKCA-BR 2 68687702 68687702 single base substitution G T 3_prime_UTR_variant SKCA-BR 2 68687989 68687989 single base substitution C A 3_prime_UTR_variant SKCA-BR 2 68688242 68688242 single base substitution G A 3_prime_UTR_variant SKCA-BR 2 68691652 68691652 single base substitution C G intron_variant SKCA-BR 2 68691701 68691701 single base substitution G A intron_variant SKCA-BR 2 68694465 68694465 single base substitution G A upstream_gene_variant SKCA-BR 2 68694501 68694501 single base substitution C T upstream_gene_variant SKCA-BR 2 68694573 68694573 single base substitution G A upstream_gene_variant SKCA-BR 2 68695389 68695389 single base substitution A T upstream_gene_variant SKCM-US 2 68691401 68691401 single base substitution G A synonymous_variant I136I 408C>T SKCM-US 2 68692015 68692015 single base substitution C T missense_variant R88Q 263G>A STAD-US 2 68691370 68691370 deletion of <=200bp C - frameshift_variant E147 STAD-US 2 68692195 68692195 deletion of <=200bp T - frameshift_variant N28 THCA-SA 2 68690710 68690710 single base substitution G A 3_prime_UTR_variant UCEC-US 2 68691493 68691493 single base substitution G A synonymous_variant L106L 316C>T UCEC-US 2 68692206 68692206 single base substitution C A missense_variant E24D 72G>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand B104-0 COSM1752613 c.266G>C p.R89T Substitution - Missense 2:68464880-68464880 - LUAD_E00522 COSM353139 c.280G>T p.D94Y Substitution - Missense 2:68464866-68464866 - TCGA-RP-A695-06 COSM4897048 c.408C>T p.I136I Substitution - coding silent 2:68464269-68464269 - OSCC-GB_01170111 COSM5954056 c.180G>C p.L60F Substitution - Missense 2:68464966-68464966 - TCGA-D1-A17U-01 COSM1022350 c.197A>G p.N66S Substitution - Missense 2:68464949-68464949 - CSCC-37-T COSM4558502 c.76G>A p.E26K Substitution - Missense 2:68465070-68465070 - YUKAT COSM3055652 c.397C>T p.P133S Substitution - Missense 2:68464280-68464280 - SW48 COSM3055652 c.397C>T p.P133S Substitution - Missense 2:68464280-68464280 - RK308_C01 COSM3739885 c.271A>G p.I91V Substitution - Missense 2:68464875-68464875 - AOCS-063-1-3 COSM4141197 c.339A>T p.K113N Substitution - Missense 2:68464338-68464338 - HCC3 COSM1615037 c.330G>T p.Q110H Substitution - Missense 2:68464347-68464347 - SW1417 COSM3055661 c.238T>A p.C80S Substitution - Missense 2:68464908-68464908 - TCGA-FD-A3NA-01 COSM1306941 c.262C>G p.R88G Substitution - Missense 2:68464884-68464884 - Gp5D COSM3055658 c.291T>G p.S97R Substitution - Missense 2:68464855-68464855 - Pat_76_A COSM5862727 c.420G>A p.M140I Substitution - Missense 2:68464257-68464257 - YUGATOR COSM5397229 c.262C>T p.R88* Substitution - Nonsense 2:68464884-68464884 - ESCC_93 COSM5637240 c.30_34delTTTAA p.N10fs*13 Deletion - Frameshift 2:68465112-68465116 - 587376 COSM1206862 c.138T>G p.I46M Substitution - Missense 2:68465008-68465008 - TCGA-FS-A1ZS-06 COSM3055660 c.263G>A p.R88Q Substitution - Missense 2:68464883-68464883 - HX12T COSM1615038 c.37G>A p.V13I Substitution - Missense 2:68465109-68465109 - T3152 COSM4684026 c.312A>G p.I104M Substitution - Missense 2:68464365-68464365 - TCGA-AX-A0J1-01 COSM1022349 c.316C>T p.L106L Substitution - coding silent 2:68464361-68464361 - TCGA-EI-6507-01 COSM1565508 c.406_407insA p.I136fs*>21 Insertion - Frameshift 2:68464270-68464271 - Pat_76_B COSM5862727 c.420G>A p.M140I Substitution - Missense 2:68464257-68464257 - 587342 COSM1206861 c.67G>A p.A23T Substitution - Missense 2:68465079-68465079 - TCGA-G4-6588-01 COSM1409060 c.91C>T p.Q31* Substitution - Nonsense 2:68465055-68465055 - sysucc-1397T COSM5474501 c.185G>A p.C62Y Substitution - Missense 2:68464961-68464961 - ccRCC-30 COSM1661824 c.216T>G p.S72R Substitution - Missense 2:68464930-68464930 - EGC3 COSM5059014 c.204A>G p.T68T Substitution - coding silent 2:68464942-68464942 - TCGA-BT-A20J-01 COSM419123 c.464G>C p.R155T Substitution - Missense 2:68464213-68464213 - HCC3T COSM1615037 c.330G>T p.Q110H Substitution - Missense 2:68464347-68464347 - YUVEME COSM5397230 c.107A>G p.E36G Substitution - Missense 2:68465039-68465039 - BD130T COSM5515938 c.53C>T p.A18V Substitution - Missense 2:68465093-68465093 - ATL041 COSM5708289 c.344A>G p.K115R Substitution - Missense 2:68464333-68464333 - TCGA-B5-A11E-01 COSM1022351 c.72G>T p.E24D Substitution - Missense 2:68465074-68465074 - TCGA-CK-5913-01 COSM1409058 c.147G>A p.Q49Q Substitution - coding silent 2:68464999-68464999 - TCGA-G4-6628-01 COSM1409061 c.47C>G p.T16R Substitution - Missense 2:68465099-68465099 - A549 COSM1683852 c.129_130delTT p.F44fs*1 Deletion - Frameshift 2:68465016-68465017 - B104-0-Tumor COSM1752613 c.266G>C p.R89T Substitution - Missense 2:68464880-68464880 - TCGA-AA-3510-01 COSM1409059 c.104T>G p.F35C Substitution - Missense 2:68465042-68465042 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.164076;Hs.164084;Hs.164091;Hs.164117 2p13.3

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C 5-UTRSNV . c.1-1051T>G 2 68693328 HC A G 3-UTRSNV . c.465+82T>C 2 68691262 HC AT - Frameshift p.M137Vfs*29 c.409_410delAT 2 68691399 HNSC C - Frameshift p.E147Kfs*3 c.439delG 2 68691370 STAD C G Missense p.R155T c.464G>C 2 68691345 BLCA C T Missense p.R88Q c.263G>A 2 68692015 CM G A Missense p.S100F c.299C>T 2 68691979 BRCA G C Missense p.R88G c.262C>G 2 68692016 BLCA G T 3-UTRSNV . c.465+79C>A 2 68691265 ESCA T - 3-UTRDeletion . c.465+15delA 2 68691329 STAD T C Missense p.N125S c.374A>G 2 68691435 CM