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 BRCA 1 110655404 110655404 + Missense_Mutation SNP A A C TCGA-E2-A15I-01A-21D-A135-09 TCGA-E2-A15I-11A-32D-A135-09 g.chr1:110655404A>C c.248A>C c.(247-249)cAc>cCc p.H83P CESC 1 110655268 110655268 + Missense_Mutation SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 g.chr1:110655268G>A c.112G>A c.(112-114)Gag>Aag p.E38K CESC 1 110655651 110655651 + Silent SNP G G A TCGA-FU-A2QG-01A-11D-A18J-09 TCGA-FU-A2QG-10A-01D-A18J-09 g.chr1:110655651G>A c.495G>A c.(493-495)gaG>gaA p.E165E COAD 1 110655191 110655191 + Missense_Mutation SNP G G T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:110655191G>T c.35G>T c.(34-36)aGa>aTa p.R12I COADREAD 1 110655191 110655191 + Missense_Mutation SNP G G T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:110655191G>T c.35G>T c.(34-36)aGa>aTa p.R12I COADREAD 1 110655384 110655384 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:110655384G>T c.228G>T c.(226-228)aaG>aaT p.K76N GBMLGG 1 110655424 110655424 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:110655424C>A c.268C>A c.(268-270)Ctg>Atg p.L90M HNSC 1 110655410 110655410 + Missense_Mutation SNP C C T TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 g.chr1:110655410C>T c.254C>T c.(253-255)cCg>cTg p.P85L KIPAN 1 110655193 110655193 + Missense_Mutation SNP T T A TCGA-BP-4982-01A-01D-1462-08 TCGA-BP-4982-11A-01D-1462-08 g.chr1:110655193T>A c.37T>A c.(37-39)Tgc>Agc p.C13S KIRC 1 110655193 110655193 + Missense_Mutation SNP T T A TCGA-BP-4982-01A-01D-1462-08 TCGA-BP-4982-11A-01D-1462-08 g.chr1:110655193T>A c.37T>A c.(37-39)Tgc>Agc p.C13S LGG 1 110655424 110655424 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:110655424C>A c.268C>A c.(268-270)Ctg>Atg p.L90M LIHC 1 110655547 110655547 + Nonsense_Mutation SNP G G T TCGA-CC-A7IH-01A-11D-A33K-10 TCGA-CC-A7IH-10A-01D-A33K-10 g.chr1:110655547G>T c.391G>T c.(391-393)Gag>Tag p.E131* LUAD 1 110655547 110655547 + Nonsense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 g.chr1:110655547G>T c.391G>T c.(391-393)Gag>Tag p.E131* LUAD 1 110655635 110655635 + Missense_Mutation SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 g.chr1:110655635G>T c.479G>T c.(478-480)aGc>aTc p.S160I OV 1 110655347 110655347 + Missense_Mutation SNP A A G TCGA-13-0887-01A-01W-0421-09 TCGA-13-0887-10A-01W-0421-09 g.chr1:110655347A>G c.191A>G c.(190-192)aAt>aGt p.N64S READ 1 110655384 110655384 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:110655384G>T c.228G>T c.(226-228)aaG>aaT p.K76N SKCM 1 110655204 110655204 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr1:110655204G>A c.48G>A c.(46-48)aaG>aaA p.K16K SKCM 1 110655414 110655414 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr1:110655414G>A c.258G>A c.(256-258)caG>caA p.Q86Q SKCM 1 110655500 110655500 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr1:110655500G>A c.344G>A c.(343-345)aGg>aAg p.R115K

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 1 110655545 110655545 single base substitution T A missense_variant L130Q 389T>A BRCA-EU 1 110650407 110650407 single base substitution A C upstream_gene_variant BRCA-EU 1 110650648 110650648 single base substitution G A upstream_gene_variant BRCA-EU 1 110651141 110651141 single base substitution C T upstream_gene_variant BRCA-EU 1 110652022 110652022 single base substitution C T upstream_gene_variant BRCA-EU 1 110654408 110654408 single base substitution C G upstream_gene_variant BRCA-EU 1 110654449 110654449 single base substitution C G upstream_gene_variant BRCA-EU 1 110655390 110655390 single base substitution G A synonymous_variant A78A 234G>A BRCA-EU 1 110657693 110657693 single base substitution T C downstream_gene_variant BRCA-EU 1 110657923 110657923 single base substitution G A downstream_gene_variant BRCA-FR 1 110650648 110650648 single base substitution G A upstream_gene_variant BRCA-UK 1 110654449 110654449 single base substitution C G upstream_gene_variant BRCA-US 1 110655404 110655404 single base substitution A C missense_variant H83P 248A>C BTCA-JP 1 110655462 110655462 single base substitution T C synonymous_variant F102F 306T>C CESC-US 1 110655268 110655268 single base substitution G A missense_variant E38K 112G>A CESC-US 1 110655651 110655651 single base substitution G A synonymous_variant E165E 495G>A CLLE-ES 1 110653325 110653325 single base substitution A G upstream_gene_variant CLLE-ES 1 110661260 110661260 single base substitution A G downstream_gene_variant COCA-CN 1 110655296 110655296 single base substitution G T missense_variant G47V 140G>T ESAD-UK 1 110650448 110650448 single base substitution C T upstream_gene_variant ESAD-UK 1 110650912 110650912 single base substitution T G upstream_gene_variant ESAD-UK 1 110650943 110650943 single base substitution T G upstream_gene_variant ESAD-UK 1 110653707 110653707 single base substitution G A upstream_gene_variant ESAD-UK 1 110655803 110655803 single base substitution C T 3_prime_UTR_variant ESAD-UK 1 110655941 110655941 single base substitution A T 3_prime_UTR_variant ESAD-UK 1 110656441 110656441 single base substitution C T 3_prime_UTR_variant ESAD-UK 1 110657053 110657053 single base substitution G A downstream_gene_variant ESAD-UK 1 110657667 110657667 single base substitution C G downstream_gene_variant ESAD-UK 1 110658926 110658926 single base substitution G T downstream_gene_variant KIRC-US 1 110655193 110655193 single base substitution T A missense_variant C13S 37T>A LICA-FR 1 110650810 110650810 single base substitution T C upstream_gene_variant LICA-FR 1 110655621 110655621 single base substitution G C missense_variant K155N 465G>C LICA-FR 1 110655679 110655679 single base substitution T C stop_lost *175Q 523T>C LIHC-US 1 110655547 110655547 single base substitution G T stop_gained E131* 391G>T LINC-JP 1 110655092 110655092 single base substitution G T 5_prime_UTR_variant LINC-JP 1 110655094 110655094 single base substitution A C 5_prime_UTR_variant LINC-JP 1 110655466 110655466 single base substitution C T missense_variant P104S 310C>T LINC-JP 1 110655586 110655586 single base substitution G A missense_variant V144M 430G>A LIRI-JP 1 110651374 110651374 single base substitution C G upstream_gene_variant LIRI-JP 1 110653384 110653384 single base substitution G C upstream_gene_variant LIRI-JP 1 110653405 110653405 single base substitution G A upstream_gene_variant LIRI-JP 1 110654222 110654222 single base substitution T G upstream_gene_variant LIRI-JP 1 110655102 110655102 single base substitution C T 5_prime_UTR_variant LIRI-JP 1 110656435 110656435 single base substitution G A 3_prime_UTR_variant LIRI-JP 1 110656743 110656743 single base substitution G A downstream_gene_variant LIRI-JP 1 110656950 110656950 single base substitution T C downstream_gene_variant LIRI-JP 1 110657010 110657010 single base substitution A G downstream_gene_variant LIRI-JP 1 110658526 110658526 single base substitution T G downstream_gene_variant LIRI-JP 1 110658912 110658912 single base substitution A C downstream_gene_variant LIRI-JP 1 110659918 110659918 single base substitution T C downstream_gene_variant LUSC-KR 1 110650387 110650387 single base substitution T G upstream_gene_variant LUSC-KR 1 110658736 110658736 single base substitution G C downstream_gene_variant MELA-AU 1 110650339 110650340 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 1 110650346 110650346 single base substitution G A upstream_gene_variant MELA-AU 1 110650764 110650764 single base substitution C T upstream_gene_variant MELA-AU 1 110650950 110650950 single base substitution C T upstream_gene_variant MELA-AU 1 110651053 110651053 single base substitution C T upstream_gene_variant MELA-AU 1 110651254 110651254 single base substitution A G upstream_gene_variant MELA-AU 1 110651362 110651362 single base substitution C T upstream_gene_variant MELA-AU 1 110651369 110651369 single base substitution G A upstream_gene_variant MELA-AU 1 110651631 110651631 single base substitution C T upstream_gene_variant MELA-AU 1 110651651 110651651 single base substitution G A upstream_gene_variant MELA-AU 1 110651724 110651724 single base substitution C T upstream_gene_variant MELA-AU 1 110652249 110652249 single base substitution C T upstream_gene_variant MELA-AU 1 110652642 110652642 single base substitution C T upstream_gene_variant MELA-AU 1 110652705 110652705 single base substitution G A upstream_gene_variant MELA-AU 1 110652777 110652777 single base substitution G A upstream_gene_variant MELA-AU 1 110653467 110653467 single base substitution G A upstream_gene_variant MELA-AU 1 110653660 110653660 single base substitution G A upstream_gene_variant MELA-AU 1 110653798 110653798 single base substitution T C upstream_gene_variant MELA-AU 1 110653849 110653849 single base substitution G A upstream_gene_variant MELA-AU 1 110654046 110654046 single base substitution C T upstream_gene_variant MELA-AU 1 110654125 110654125 single base substitution C T upstream_gene_variant MELA-AU 1 110654761 110654761 single base substitution G A upstream_gene_variant MELA-AU 1 110654833 110654834 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 1 110654975 110654976 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 1 110655156 110655156 single base substitution G A 5_prime_UTR_variant MELA-AU 1 110655511 110655511 single base substitution G A missense_variant E119K 355G>A MELA-AU 1 110655803 110655803 single base substitution C T 3_prime_UTR_variant MELA-AU 1 110656738 110656738 single base substitution G A downstream_gene_variant MELA-AU 1 110656930 110656930 single base substitution C T downstream_gene_variant MELA-AU 1 110657076 110657076 single base substitution G A downstream_gene_variant MELA-AU 1 110657288 110657288 single base substitution C T downstream_gene_variant MELA-AU 1 110657732 110657732 single base substitution G A downstream_gene_variant MELA-AU 1 110657864 110657864 single base substitution C T downstream_gene_variant MELA-AU 1 110658223 110658223 single base substitution C T downstream_gene_variant MELA-AU 1 110658457 110658457 single base substitution C T downstream_gene_variant MELA-AU 1 110658737 110658737 single base substitution G A downstream_gene_variant MELA-AU 1 110658775 110658775 single base substitution G A downstream_gene_variant MELA-AU 1 110659112 110659112 single base substitution G A downstream_gene_variant MELA-AU 1 110659550 110659550 single base substitution G A downstream_gene_variant MELA-AU 1 110660415 110660415 single base substitution G A downstream_gene_variant MELA-AU 1 110660428 110660428 single base substitution G A downstream_gene_variant MELA-AU 1 110660509 110660509 single base substitution C T downstream_gene_variant MELA-AU 1 110660534 110660534 single base substitution G A downstream_gene_variant MELA-AU 1 110661319 110661319 single base substitution C T downstream_gene_variant MELA-AU 1 110661371 110661371 single base substitution G A downstream_gene_variant ORCA-IN 1 110655617 110655617 single base substitution C A missense_variant A154E 461C>A OV-AU 1 110651233 110651233 single base substitution C A upstream_gene_variant OV-AU 1 110653904 110653904 single base substitution G T upstream_gene_variant OV-AU 1 110654815 110654815 single base substitution C A upstream_gene_variant OV-AU 1 110661174 110661174 single base substitution A T downstream_gene_variant OV-US 1 110655347 110655347 single base substitution A G missense_variant N64S 191A>G PACA-AU 1 110655085 110655085 single base substitution A G 5_prime_UTR_variant PACA-AU 1 110656598 110656598 single base substitution G A downstream_gene_variant PACA-CA 1 110650391 110650391 single base substitution T C upstream_gene_variant PACA-CA 1 110650449 110650449 single base substitution G A upstream_gene_variant PACA-CA 1 110650471 110650471 single base substitution G A upstream_gene_variant PACA-CA 1 110657609 110657609 single base substitution T C downstream_gene_variant PACA-CA 1 110659313 110659313 single base substitution C A downstream_gene_variant PACA-CA 1 110659720 110659720 single base substitution G A downstream_gene_variant PACA-CA 1 110660186 110660186 single base substitution C T downstream_gene_variant PAEN-AU 1 110657493 110657493 single base substitution T C downstream_gene_variant PBCA-DE 1 110659980 110659980 insertion of <=200bp - T downstream_gene_variant PRAD-CA 1 110653495 110653495 single base substitution G A upstream_gene_variant RECA-EU 1 110654099 110654099 single base substitution G A upstream_gene_variant RECA-EU 1 110654509 110654509 single base substitution C A upstream_gene_variant SKCA-BR 1 110653227 110653227 single base substitution C T upstream_gene_variant SKCA-BR 1 110654967 110654967 single base substitution G A upstream_gene_variant SKCA-BR 1 110658720 110658720 insertion of <=200bp - CT downstream_gene_variant SKCM-US 1 110655204 110655204 single base substitution G A synonymous_variant K16K 48G>A SKCM-US 1 110655414 110655414 single base substitution G A synonymous_variant Q86Q 258G>A SKCM-US 1 110655500 110655500 single base substitution G A missense_variant R115K 344G>A STAD-US 1 110655253 110655253 single base substitution C T missense_variant R33W 97C>T UCEC-US 1 110655237 110655237 single base substitution G T missense_variant K27N 81G>T UCEC-US 1 110655439 110655439 single base substitution G A missense_variant G95R 283G>A UCEC-US 1 110655663 110655663 single base substitution G A synonymous_variant E169E 507G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-EE-A2MS-06 COSM3471025 c.48G>A p.K16K Substitution - coding silent 1:110112582-110112582 + TCGA-C5-A1BQ-01 COSM4842150 c.112G>A p.E38K Substitution - Missense 1:110112646-110112646 + MO_1221 COSM5563019 c.267C>T p.P89P Substitution - coding silent 1:110112801-110112801 + B89-12-Tumor COSM3930254 c.389T>A p.L130Q Substitution - Missense 1:110112923-110112923 + CHC2052T COSM4790003 c.523T>C p.*175Q Nonstop extension 1:110113057-110113057 + PD24332a COSM5771400 c.234G>A p.A78A Substitution - coding silent 1:110112768-110112768 + CHC1746T COSM4787954 c.465G>C p.K155N Substitution - Missense 1:110112999-110112999 + HX27T COSM3704820 c.310C>T p.P104S Substitution - Missense 1:110112844-110112844 + TCGA-24-1551-01 COSM111483 c.507delG p.A170fs*>5 Deletion - Frameshift 1:110113041-110113041 + IGROV-1 COSM1667794 c.105G>T p.K35N Substitution - Missense 1:110112639-110112639 + TCGA-FW-A3R5-06 COSM3862155 c.258G>A p.Q86Q Substitution - coding silent 1:110112792-110112792 + HN_62739 COSM128428 c.75G>C p.T25T Substitution - coding silent 1:110112609-110112609 + HCC72 COSM1600519 c.430G>A p.V144M Substitution - Missense 1:110112964-110112964 + TCGA-GN-A266-06 COSM3471026 c.344G>A p.R115K Substitution - Missense 1:110112878-110112878 + HCC72T COSM1600519 c.430G>A p.V144M Substitution - Missense 1:110112964-110112964 + 53M COSM5595529 c.24C>T p.L8L Substitution - coding silent 1:110112558-110112558 + WA33 COSM238394 c.204T>C p.N68N Substitution - coding silent 1:110112738-110112738 + TCGA-CC-A7IH-01 COSM1497816 c.391G>T p.E131* Substitution - Nonsense 1:110112925-110112925 + TCGA-13-0887-01 COSM76931 c.191A>G p.N64S Substitution - Missense 1:110112725-110112725 + 1N25-VS-1T25 COSM4973323 c.208A>G p.I70V Substitution - Missense 1:110112742-110112742 + ESO-021 COSM1269643 c.255G>A p.P85P Substitution - coding silent 1:110112789-110112789 + 9210_T COSM5042476 c.385C>T p.H129Y Substitution - Missense 1:110112919-110112919 + NB-0462 COSM1288801 c.331C>A p.L111M Substitution - Missense 1:110112865-110112865 + TCGA-BR-8382-01 COSM4020463 c.97C>T p.R33W Substitution - Missense 1:110112631-110112631 + RKO COSM2118372 c.315G>T p.Q105H Substitution - Missense 1:110112849-110112849 + CHC2052T COSM4790003 c.523T>C p.*175Q Nonstop extension 1:110113057-110113057 + OSCC-GB_00180111 COSM3711118 c.461C>A p.A154E Substitution - Missense 1:110112995-110112995 + TCGA-FU-A2QG-01 COSM4849117 c.495G>A p.E165E Substitution - coding silent 1:110113029-110113029 + Case2a COSM1717214 c.243G>A p.E81E Substitution - coding silent 1:110112777-110112777 + TCGA-BP-4982-01 COSM462561 c.37T>A p.C13S Substitution - Missense 1:110112571-110112571 + TCGA-AP-A056-01 COSM893618 c.81G>T p.K27N Substitution - Missense 1:110112615-110112615 + CSCC-62-T COSM4528217 c.151G>A p.E51K Substitution - Missense 1:110112685-110112685 + CSCC-31-T COSM4467292 c.147C>T p.L49L Substitution - coding silent 1:110112681-110112681 + 18T COSM3711118 c.461C>A p.A154E Substitution - Missense 1:110112995-110112995 + TCGA-AG-A002-01 COSM264523 c.228G>T p.K76N Substitution - Missense 1:110112762-110112762 + TCGA-E2-A15I-01 COSM423417 c.248A>C p.H83P Substitution - Missense 1:110112782-110112782 + Case2c COSM1717214 c.243G>A p.E81E Substitution - coding silent 1:110112777-110112777 + TCGA-AP-A059-01 COSM893619 c.283G>A p.G95R Substitution - Missense 1:110112817-110112817 + Case2d COSM1717214 c.243G>A p.E81E Substitution - coding silent 1:110112777-110112777 + LUAD-CHTN-MAD06-00668 COSM358183 c.31C>A p.Q11K Substitution - Missense 1:110112565-110112565 + Case2b COSM1717214 c.243G>A p.E81E Substitution - coding silent 1:110112777-110112777 + TCGA-D1-A163-01 COSM893620 c.507G>A p.E169E Substitution - coding silent 1:110113041-110113041 + BD173T COSM5505685 c.306T>C p.F102F Substitution - coding silent 1:110112840-110112840 + CHC1746T COSM4787954 c.465G>C p.K155N Substitution - Missense 1:110112999-110112999 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.374027 1p13.3 611127

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.N64S c.191A>G 1 110655347 OV C A Missense p.L111M c.331C>A 1 110655487 NB C A Missense p.P37H c.110C>A 1 110655266 COREAD C T Missense p.P85L c.254C>T 1 110655410 HNSC G A Missense p.E165K c.493G>A 1 110655649 CM G A Synonymous p.E169E c.507G>A 1 110655663 UCEC G A Synonymous p.K16K c.48G>A 1 110655204 CM G C Synonymous p.T25T c.75G>C 1 110655231 HNSC G - Frameshift p.A170Qfs*80 c.508delG 1 110655663 OV T A Missense p.C13S c.37T>A 1 110655193 RCCC