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 ACC 12 117013775 117013775 + Missense_Mutation SNP C C T TCGA-OR-A5J5-01A-11D-A29I-10 TCGA-OR-A5J5-10A-01D-A29L-10 g.chr12:117013775C>T c.28C>T c.(28-30)Cgg>Tgg p.R10W ACC 12 117013934 117013934 + Missense_Mutation SNP C C A TCGA-OR-A5JA-01A-11D-A29I-10 TCGA-OR-A5JA-10A-01D-A29L-10 g.chr12:117013934C>A c.187C>A c.(187-189)Ctc>Atc p.L63I BRCA 12 117014080 117014080 + Missense_Mutation SNP G G T TCGA-D8-A1X9-01A-12D-A159-09 TCGA-D8-A1X9-10A-01D-A17G-09 g.chr12:117014080G>T c.333G>T c.(331-333)atG>atT p.M111I COAD 12 117013801 117013801 + Missense_Mutation SNP A A C TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr12:117013801A>C c.54A>C c.(52-54)gaA>gaC p.E18D COAD 12 117013857 117013857 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr12:117013857G>A c.110G>A c.(109-111)cGa>cAa p.R37Q COAD 12 117013860 117013860 + Missense_Mutation SNP A A G TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr12:117013860A>G c.113A>G c.(112-114)tAc>tGc p.Y38C COAD 12 117013966 117013966 + Silent SNP C C T TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr12:117013966C>T c.219C>T c.(217-219)ctC>ctT p.L73L COADREAD 12 117013801 117013801 + Missense_Mutation SNP A A C TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr12:117013801A>C c.54A>C c.(52-54)gaA>gaC p.E18D COADREAD 12 117013857 117013857 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr12:117013857G>A c.110G>A c.(109-111)cGa>cAa p.R37Q COADREAD 12 117013860 117013860 + Missense_Mutation SNP A A G TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr12:117013860A>G c.113A>G c.(112-114)tAc>tGc p.Y38C COADREAD 12 117013966 117013966 + Silent SNP C C T TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr12:117013966C>T c.219C>T c.(217-219)ctC>ctT p.L73L HNSC 12 117013751 117013751 + Missense_Mutation SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 g.chr12:117013751C>T c.4C>T c.(4-6)Ccg>Tcg p.P2S HNSC 12 117013807 117013807 + Silent SNP C C G TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 g.chr12:117013807C>G c.60C>G c.(58-60)gtC>gtG p.V20V KIPAN 12 117013990 117013990 + Frame_Shift_Del DEL G G - TCGA-B0-5095-01A-01D-1421-08 TCGA-B0-5095-11A-01D-1421-08 g.chr12:117013990delG c.243delG c.(241-243)ctgfs p.L82fs KIRC 12 117013990 117013990 + Frame_Shift_Del DEL G G - TCGA-B0-5095-01A-01D-1421-08 TCGA-B0-5095-11A-01D-1421-08 g.chr12:117013990delG c.243delG c.(241-243)ctgfs p.L82fs LUAD 12 117013775 117013775 + Missense_Mutation SNP C C G TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 g.chr12:117013775C>G c.28C>G c.(28-30)Cgg>Ggg p.R10G LUAD 12 117013999 117013999 + Missense_Mutation SNP C C G TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 g.chr12:117013999C>G c.252C>G c.(250-252)aaC>aaG p.N84K LUSC 12 117014012 117014012 + Missense_Mutation SNP G G T TCGA-60-2710-01A-01D-1522-08 TCGA-60-2710-11A-01D-1522-08 g.chr12:117014012G>T c.265G>T c.(265-267)Gtc>Ttc p.V89F PAAD 12 117013978 117013978 + Silent SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr12:117013978G>A c.231G>A c.(229-231)caG>caA p.Q77Q PAAD 12 117014104 117014104 + Missense_Mutation SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 g.chr12:117014104C>A c.357C>A c.(355-357)ttC>ttA p.F119L SKCM 12 117013751 117013751 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 g.chr12:117013751C>T c.4C>T c.(4-6)Ccg>Tcg p.P2S SKCM 12 117013787 117013787 + Missense_Mutation SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 g.chr12:117013787G>A c.40G>A c.(40-42)Gaa>Aaa p.E14K SKCM 12 117013840 117013840 + Silent SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr12:117013840C>T c.93C>T c.(91-93)atC>atT p.I31I SKCM 12 117013857 117013857 + Missense_Mutation SNP G G A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 g.chr12:117013857G>A c.110G>A c.(109-111)cGa>cAa p.R37Q

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BRCA-EU 12 116981073 116981073 single base substitution G C upstream_gene_variant BRCA-EU 12 116981254 116981254 single base substitution G C upstream_gene_variant BRCA-EU 12 116984028 116984028 single base substitution G A upstream_gene_variant BRCA-EU 12 116985003 116985003 single base substitution G A upstream_gene_variant BRCA-EU 12 116985429 116985429 single base substitution G A upstream_gene_variant BRCA-EU 12 116985461 116985461 single base substitution G A upstream_gene_variant BRCA-EU 12 116985882 116985882 single base substitution C G upstream_gene_variant BRCA-EU 12 116986795 116986795 single base substitution C G intron_variant BRCA-EU 12 116987431 116987431 single base substitution C G intron_variant BRCA-EU 12 116987760 116987760 single base substitution C T intron_variant BRCA-EU 12 116988156 116988157 deletion of <=200bp CT - intron_variant BRCA-EU 12 116988172 116988172 single base substitution C T splice_region_variant BRCA-EU 12 116988609 116988609 single base substitution T A intron_variant BRCA-EU 12 116988724 116988724 single base substitution G C intron_variant BRCA-EU 12 116989970 116989970 single base substitution G A intron_variant BRCA-EU 12 116990585 116990585 single base substitution C G intron_variant BRCA-EU 12 116990662 116990662 single base substitution G T intron_variant BRCA-EU 12 116991064 116991064 single base substitution G A intron_variant BRCA-EU 12 116991620 116991620 single base substitution G A intron_variant BRCA-EU 12 116993041 116993041 single base substitution G C downstream_gene_variant BRCA-EU 12 116993050 116993050 single base substitution A G downstream_gene_variant BRCA-EU 12 116993973 116993973 single base substitution C T downstream_gene_variant BRCA-EU 12 116994376 116994376 single base substitution G C downstream_gene_variant BRCA-EU 12 116994748 116994748 single base substitution C A downstream_gene_variant BRCA-EU 12 116995019 116995019 deletion of <=200bp C - downstream_gene_variant BRCA-EU 12 116995050 116995050 single base substitution C G downstream_gene_variant BRCA-EU 12 116995728 116995728 single base substitution C G downstream_gene_variant BRCA-EU 12 116996274 116996274 single base substitution C T downstream_gene_variant BRCA-FR 12 116981073 116981073 single base substitution G C upstream_gene_variant BRCA-FR 12 116984028 116984028 single base substitution G A upstream_gene_variant BRCA-FR 12 116987920 116987920 single base substitution C T intron_variant BRCA-FR 12 116991064 116991064 single base substitution G A intron_variant BRCA-UK 12 116993050 116993050 single base substitution A G downstream_gene_variant ESAD-UK 12 116982438 116982438 single base substitution A C upstream_gene_variant ESAD-UK 12 116984741 116984741 insertion of <=200bp - AT upstream_gene_variant ESAD-UK 12 116985885 116985885 single base substitution G A upstream_gene_variant ESAD-UK 12 116987908 116987908 single base substitution C T intron_variant ESAD-UK 12 116988989 116988989 single base substitution G T intron_variant ESAD-UK 12 116989403 116989403 single base substitution G T intron_variant ESAD-UK 12 116989815 116989815 single base substitution C A intron_variant ESAD-UK 12 116989880 116989880 single base substitution G T intron_variant ESAD-UK 12 116989970 116989970 single base substitution G A intron_variant ESAD-UK 12 116990248 116990248 single base substitution G A intron_variant ESAD-UK 12 116990606 116990606 single base substitution G A intron_variant ESAD-UK 12 116990843 116990843 single base substitution C T intron_variant ESAD-UK 12 116992158 116992158 single base substitution T A exon_variant ESAD-UK 12 116992818 116992818 single base substitution G A downstream_gene_variant LICA-FR 12 116984772 116984772 single base substitution T C upstream_gene_variant LINC-JP 12 116984064 116984064 single base substitution C T upstream_gene_variant LINC-JP 12 116990629 116990629 single base substitution C T intron_variant LIRI-JP 12 116982700 116982700 single base substitution A G upstream_gene_variant LIRI-JP 12 116982945 116982945 single base substitution A G upstream_gene_variant LIRI-JP 12 116983274 116983274 single base substitution T A upstream_gene_variant LIRI-JP 12 116983986 116983986 single base substitution A C upstream_gene_variant LIRI-JP 12 116984402 116984402 single base substitution G A upstream_gene_variant LIRI-JP 12 116986367 116986367 single base substitution T C intron_variant LIRI-JP 12 116987447 116987447 single base substitution C A intron_variant LIRI-JP 12 116988281 116988281 single base substitution C T exon_variant LIRI-JP 12 116988774 116988774 single base substitution T C intron_variant LIRI-JP 12 116989447 116989447 single base substitution G C intron_variant LIRI-JP 12 116990402 116990402 single base substitution G T intron_variant LIRI-JP 12 116990419 116990419 single base substitution A G intron_variant LIRI-JP 12 116991092 116991092 single base substitution T G intron_variant LIRI-JP 12 116991783 116991783 single base substitution T G intron_variant LIRI-JP 12 116992817 116992817 single base substitution C T downstream_gene_variant LIRI-JP 12 116993038 116993038 single base substitution C T downstream_gene_variant LIRI-JP 12 116993730 116993730 single base substitution G C downstream_gene_variant LIRI-JP 12 116994471 116994471 single base substitution A G downstream_gene_variant LIRI-JP 12 116994863 116994863 single base substitution G A downstream_gene_variant LIRI-JP 12 116996939 116996939 single base substitution G C downstream_gene_variant LIRI-JP 12 116997006 116997006 single base substitution G T downstream_gene_variant LIRI-JP 12 116997007 116997007 single base substitution C T downstream_gene_variant LUSC-KR 12 116982970 116982970 single base substitution T G upstream_gene_variant LUSC-KR 12 116987519 116987519 single base substitution C T intron_variant LUSC-KR 12 116989073 116989073 single base substitution G A intron_variant LUSC-KR 12 116991101 116991101 single base substitution T C intron_variant LUSC-KR 12 116995956 116995956 single base substitution A C downstream_gene_variant LUSC-KR 12 116996235 116996235 single base substitution C T downstream_gene_variant LUSC-KR 12 116997060 116997060 single base substitution C T downstream_gene_variant MALY-DE 12 116993152 116993152 single base substitution T C downstream_gene_variant MELA-AU 12 116980973 116980973 single base substitution G C upstream_gene_variant MELA-AU 12 116981199 116981199 single base substitution G A upstream_gene_variant MELA-AU 12 116981425 116981425 single base substitution G A upstream_gene_variant MELA-AU 12 116981851 116981851 single base substitution G A upstream_gene_variant MELA-AU 12 116981960 116981960 single base substitution G A upstream_gene_variant MELA-AU 12 116982400 116982400 single base substitution C T upstream_gene_variant MELA-AU 12 116982609 116982609 single base substitution C T upstream_gene_variant MELA-AU 12 116982849 116982849 single base substitution C T upstream_gene_variant MELA-AU 12 116982935 116982935 single base substitution C T upstream_gene_variant MELA-AU 12 116983653 116983653 single base substitution G A upstream_gene_variant MELA-AU 12 116983956 116983956 single base substitution C T upstream_gene_variant MELA-AU 12 116984102 116984102 single base substitution C T upstream_gene_variant MELA-AU 12 116985452 116985453 multiple base substitution (>=2bp and <=200bp) CT AC upstream_gene_variant MELA-AU 12 116986492 116986492 single base substitution G A intron_variant MELA-AU 12 116986667 116986667 single base substitution C T intron_variant MELA-AU 12 116986992 116986992 single base substitution G A intron_variant MELA-AU 12 116987326 116987326 single base substitution G A intron_variant MELA-AU 12 116987523 116987523 single base substitution C T intron_variant MELA-AU 12 116987675 116987675 single base substitution C T intron_variant MELA-AU 12 116987796 116987796 single base substitution C T intron_variant MELA-AU 12 116987812 116987812 single base substitution G A intron_variant MELA-AU 12 116987939 116987939 single base substitution C T intron_variant MELA-AU 12 116988045 116988045 single base substitution C T intron_variant MELA-AU 12 116988184 116988184 single base substitution G A exon_variant MELA-AU 12 116988336 116988336 single base substitution G A exon_variant MELA-AU 12 116988730 116988730 single base substitution T C intron_variant MELA-AU 12 116989460 116989460 single base substitution C T intron_variant MELA-AU 12 116989582 116989582 single base substitution C T intron_variant MELA-AU 12 116989937 116989937 single base substitution G A intron_variant MELA-AU 12 116990230 116990230 single base substitution G A intron_variant MELA-AU 12 116990706 116990706 single base substitution G A intron_variant MELA-AU 12 116990752 116990752 single base substitution A C intron_variant MELA-AU 12 116991173 116991173 single base substitution G A intron_variant MELA-AU 12 116991181 116991181 single base substitution G A intron_variant MELA-AU 12 116991787 116991787 single base substitution C T intron_variant MELA-AU 12 116991915 116991915 single base substitution C T intron_variant MELA-AU 12 116992687 116992687 single base substitution G A downstream_gene_variant MELA-AU 12 116993387 116993387 single base substitution T A downstream_gene_variant MELA-AU 12 116993733 116993733 single base substitution T C downstream_gene_variant MELA-AU 12 116994083 116994083 single base substitution C T downstream_gene_variant MELA-AU 12 116994433 116994433 single base substitution G A downstream_gene_variant MELA-AU 12 116994466 116994466 single base substitution C T downstream_gene_variant MELA-AU 12 116994531 116994531 single base substitution G A downstream_gene_variant MELA-AU 12 116994735 116994735 single base substitution C T downstream_gene_variant MELA-AU 12 116994930 116994930 single base substitution C T downstream_gene_variant MELA-AU 12 116995839 116995839 single base substitution G A downstream_gene_variant MELA-AU 12 116996138 116996138 single base substitution C T downstream_gene_variant OV-AU 12 116984766 116984766 single base substitution T C upstream_gene_variant OV-AU 12 116984935 116984935 single base substitution C G upstream_gene_variant OV-AU 12 116989971 116989971 single base substitution A G intron_variant OV-AU 12 116992776 116992776 single base substitution T G downstream_gene_variant PACA-AU 12 116987060 116987060 single base substitution C T intron_variant PACA-AU 12 116990592 116990592 single base substitution G C intron_variant PACA-AU 12 116992979 116992979 single base substitution A G downstream_gene_variant PACA-AU 12 116994637 116994637 deletion of <=200bp T - downstream_gene_variant PACA-AU 12 116995187 116995187 single base substitution T A downstream_gene_variant PACA-CA 12 116982991 116982991 insertion of <=200bp - AAG upstream_gene_variant PACA-CA 12 116984126 116984126 single base substitution G A upstream_gene_variant PACA-CA 12 116988027 116988027 single base substitution C G intron_variant PACA-CA 12 116988028 116988028 single base substitution T C intron_variant PACA-CA 12 116992203 116992203 single base substitution T C downstream_gene_variant PACA-CA 12 116992833 116992833 single base substitution C T downstream_gene_variant PACA-CA 12 116996262 116996262 single base substitution G C downstream_gene_variant PAEN-AU 12 116986955 116986955 single base substitution G A intron_variant PAEN-IT 12 116982233 116982233 single base substitution G T upstream_gene_variant PBCA-DE 12 116988156 116988157 deletion of <=200bp CT - intron_variant PRAD-UK 12 116981601 116981601 single base substitution C A upstream_gene_variant PRAD-UK 12 116986850 116986850 single base substitution G A intron_variant PRAD-UK 12 116987209 116987209 single base substitution C G intron_variant PRAD-UK 12 116987251 116987251 deletion of <=200bp T - intron_variant PRAD-UK 12 116993919 116993919 single base substitution A C downstream_gene_variant RECA-EU 12 116981310 116981310 single base substitution T C upstream_gene_variant RECA-EU 12 116991534 116991534 single base substitution C T intron_variant SKCA-BR 12 116984718 116984722 deletion of <=200bp TATAC - upstream_gene_variant SKCA-BR 12 116987726 116987726 single base substitution C T intron_variant SKCA-BR 12 116988045 116988045 single base substitution C T intron_variant SKCA-BR 12 116989157 116989157 single base substitution A G intron_variant SKCA-BR 12 116989158 116989158 single base substitution G A intron_variant SKCA-BR 12 116991181 116991181 single base substitution G A intron_variant SKCA-BR 12 116991954 116991954 single base substitution C T intron_variant SKCA-BR 12 116993337 116993337 single base substitution G C downstream_gene_variant SKCA-BR 12 116993862 116993862 single base substitution G A downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand MO_1232 COSM5552348 c.166G>T p.D56Y Substitution - Missense 12:116576108-116576108 + EWS502 COSM2173337 c.51_53delAGA p.E18delE Deletion - In frame 12:116575993-116575995 + TCGA-D3-A3MR-06 COSM3456621 c.40G>A p.E14K Substitution - Missense 12:116575982-116575982 + YUMOBER COSM282639 c.110G>A p.R37Q Substitution - Missense 12:116576052-116576052 + TCGA-D8-A1X9-01 COSM1476171 c.333G>T p.M111I Substitution - Missense 12:116576275-116576275 + S01542 COSM5669522 c.312T>C p.D104D Substitution - coding silent 12:116576254-116576254 + 0028_CRUK_PC_0028_T1_DNA COSM5421053 c.246G>A p.L82L Substitution - coding silent 12:116576188-116576188 + ZZUFHECRKL-G016T COSM2173335 c.31C>T p.R11C Substitution - Missense 12:116575973-116575973 + TCGA-AA-A010-01 COSM282639 c.110G>A p.R37Q Substitution - Missense 12:116576052-116576052 + 61 COSM5016421 c.261_280del20 p.M88fs*6 Deletion - Frameshift 12:116576203-116576222 + TCGA-F4-6856-01 COSM1359084 c.113A>G p.Y38C Substitution - Missense 12:116576055-116576055 + TCGA-60-2710-01 COSM691906 c.265G>T p.V89F Substitution - Missense 12:116576207-116576207 + TCGA-D5-6928-01 COSM1359085 c.219C>T p.L73L Substitution - coding silent 12:116576161-116576161 + TCGA-ER-A193-06 COSM3456620 c.4C>T p.P2S Substitution - Missense 12:116575946-116575946 + GCT27 COSM5749525 c.26A>G p.Q9R Substitution - Missense 12:116575968-116575968 + TCGA-EE-A2GR-06 COSM282639 c.110G>A p.R37Q Substitution - Missense 12:116576052-116576052 + TCGA-EE-A2GC-06 COSM3456622 c.93C>T p.I31I Substitution - coding silent 12:116576035-116576035 + PD4119a COSM162352 c.316G>A p.D106N Substitution - Missense 12:116576258-116576258 + T2269 COSM4700198 c.370T>C p.S124P Substitution - Missense 12:116576312-116576312 + TCGA-BR-A4QL-01 COSM2173335 c.31C>T p.R11C Substitution - Missense 12:116575973-116575973 + TCGA-AA-3966-01 COSM272919 c.54A>C p.E18D Substitution - Missense 12:116575996-116575996 + T3024 COSM4700197 c.218T>C p.L73P Substitution - Missense 12:116576160-116576160 + Case5c COSM1717266 c.59T>C p.V20A Substitution - Missense 12:116576001-116576001 + AOCS-060-1-5 COSM3980796 c.29G>A p.R10Q Substitution - Missense 12:116575971-116575971 + TCGA-CK-6746-01 COSM5155265 c.102A>G p.I34M Substitution - Missense 12:116576044-116576044 + KPOPBR-13-T COSM5963583 c.360G>T p.G120G Substitution - coding silent 12:116576302-116576302 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.506947 12q24.22

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer C A 5-UTRSNV . c.1-39C>A 12 117013709 ESCA C G Missense p.R10G c.28C>G 12 117013775 LUAD C G Synonymous p.V20V c.60C>G 12 117013807 HNSC C T 3-UTRSNV . c.375+43C>T 12 117014165 CM C T 5-UTRSNV . c.1-19C>T 12 117013729 ESCA C T Missense p.P2S c.4C>T 12 117013751 CM C T Missense p.P2S c.4C>T 12 117013751 HNSC C T Synonymous p.I31I c.93C>T 12 117013840 CM G A 5-UTRSNV . c.1-42G>A 12 117013706 CM G A Missense p.D106N c.316G>A 12 117014063 BRCA G A Missense p.R37Q c.110G>A 12 117013857 CM G - Frameshift p.L82Wfs*2 c.243delG 12 117013990 RCCC G T Missense p.M111I c.333G>T 12 117014080 BRCA G T Missense p.V89F c.265G>T 12 117014012 LUSC