Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BOCA-FR 14 105265746 105265746 single base substitution T C upstream_gene_variant BRCA-EU 14 105262492 105262492 single base substitution G A upstream_gene_variant BRCA-EU 14 105264325 105264325 deletion of <=200bp G - upstream_gene_variant BRCA-EU 14 105264767 105264767 single base substitution G C upstream_gene_variant BRCA-EU 14 105266298 105266298 single base substitution G C upstream_gene_variant BRCA-EU 14 105266954 105266954 single base substitution G A 5_prime_UTR_variant BRCA-EU 14 105266954 105266954 single base substitution G A upstream_gene_variant BRCA-EU 14 105267143 105267143 single base substitution C T intron_variant BRCA-EU 14 105267143 105267143 single base substitution C T upstream_gene_variant BRCA-EU 14 105267902 105267902 single base substitution G T missense_variant R123L 368G>T BRCA-EU 14 105269409 105269409 single base substitution G T 3_prime_UTR_variant BRCA-EU 14 105269409 105269409 single base substitution G T downstream_gene_variant BRCA-EU 14 105269414 105269414 insertion of <=200bp - GT 3_prime_UTR_variant BRCA-EU 14 105269414 105269414 insertion of <=200bp - GT downstream_gene_variant BRCA-EU 14 105269669 105269669 single base substitution C T 3_prime_UTR_variant BRCA-EU 14 105269669 105269669 single base substitution C T downstream_gene_variant BRCA-EU 14 105272290 105272290 deletion of <=200bp G - downstream_gene_variant BRCA-EU 14 105275124 105275124 single base substitution G C downstream_gene_variant BRCA-UK 14 105262120 105262120 single base substitution C T upstream_gene_variant BRCA-UK 14 105269174 105269174 single base substitution C T 3_prime_UTR_variant BRCA-UK 14 105269174 105269174 single base substitution C T downstream_gene_variant BRCA-UK 14 105274976 105274976 single base substitution G A downstream_gene_variant BRCA-US 14 105268210 105268210 single base substitution G A missense_variant E226K 676G>A CESC-US 14 105268691 105268691 single base substitution G A missense_variant R386Q 1157G>A COAD-US 14 105267579 105267579 single base substitution A G synonymous_variant R15R 45A>G COAD-US 14 105267710 105267710 single base substitution G A missense_variant G59D 176G>A COAD-US 14 105267934 105267934 single base substitution G A missense_variant A134T 400G>A COAD-US 14 105268045 105268045 single base substitution C T stop_gained R171* 511C>T COAD-US 14 105268104 105268104 single base substitution G A synonymous_variant L190L 570G>A ESAD-UK 14 105262855 105262881 deletion of <=200bp CCGGGTATGGAATGAGTAAGTGGGACA - upstream_gene_variant ESAD-UK 14 105263986 105263986 single base substitution G T upstream_gene_variant ESAD-UK 14 105264958 105264958 single base substitution C A upstream_gene_variant ESAD-UK 14 105266157 105266157 single base substitution C G upstream_gene_variant ESAD-UK 14 105267113 105267113 single base substitution C T intron_variant ESAD-UK 14 105267113 105267113 single base substitution C T upstream_gene_variant ESAD-UK 14 105272132 105272132 single base substitution C A downstream_gene_variant ESCA-CN 14 105270485 105270485 single base substitution G T 3_prime_UTR_variant ESCA-CN 14 105270485 105270485 single base substitution G T downstream_gene_variant KIRP-US 14 105268528 105268528 single base substitution G A missense_variant V332M 994G>A LINC-JP 14 105269635 105269635 single base substitution G C 3_prime_UTR_variant LINC-JP 14 105269635 105269635 single base substitution G C downstream_gene_variant LINC-JP 14 105273045 105273045 single base substitution G C downstream_gene_variant LIRI-JP 14 105265813 105265813 single base substitution C T upstream_gene_variant LIRI-JP 14 105269243 105269243 single base substitution A G 3_prime_UTR_variant LIRI-JP 14 105269243 105269243 single base substitution A G downstream_gene_variant LIRI-JP 14 105270484 105270484 insertion of <=200bp - GT 3_prime_UTR_variant LIRI-JP 14 105270484 105270484 insertion of <=200bp - GT downstream_gene_variant LIRI-JP 14 105275426 105275426 single base substitution C T downstream_gene_variant LUSC-KR 14 105267472 105267472 single base substitution C A 5_prime_UTR_variant LUSC-KR 14 105267472 105267472 single base substitution C A intron_variant LUSC-KR 14 105267997 105267997 single base substitution C T stop_gained R155* 463C>T LUSC-KR 14 105272442 105272442 single base substitution C T downstream_gene_variant LUSC-KR 14 105273400 105273400 single base substitution G A downstream_gene_variant LUSC-KR 14 105275619 105275619 single base substitution C A downstream_gene_variant MALY-DE 14 105269420 105269420 deletion of <=200bp T - 3_prime_UTR_variant MALY-DE 14 105269420 105269420 deletion of <=200bp T - downstream_gene_variant MALY-DE 14 105269578 105269578 single base substitution G A 3_prime_UTR_variant MALY-DE 14 105269578 105269578 single base substitution G A downstream_gene_variant MELA-AU 14 105262327 105262328 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 14 105262567 105262567 single base substitution C A upstream_gene_variant MELA-AU 14 105262956 105262956 single base substitution C T upstream_gene_variant MELA-AU 14 105263279 105263280 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 14 105263315 105263315 single base substitution C A upstream_gene_variant MELA-AU 14 105263902 105263902 single base substitution C T upstream_gene_variant MELA-AU 14 105264754 105264754 single base substitution G A upstream_gene_variant MELA-AU 14 105264770 105264770 single base substitution G A upstream_gene_variant MELA-AU 14 105265060 105265060 single base substitution G A upstream_gene_variant MELA-AU 14 105265092 105265092 single base substitution G A upstream_gene_variant MELA-AU 14 105265242 105265242 single base substitution G A upstream_gene_variant MELA-AU 14 105266377 105266377 single base substitution G A upstream_gene_variant MELA-AU 14 105267102 105267102 single base substitution C T intron_variant MELA-AU 14 105267102 105267102 single base substitution C T upstream_gene_variant MELA-AU 14 105267935 105267935 single base substitution C A missense_variant A134E 401C>A MELA-AU 14 105269134 105269134 single base substitution C T 3_prime_UTR_variant MELA-AU 14 105269134 105269134 single base substitution C T downstream_gene_variant MELA-AU 14 105270327 105270327 single base substitution G A 3_prime_UTR_variant MELA-AU 14 105270327 105270327 single base substitution G A downstream_gene_variant MELA-AU 14 105270373 105270373 single base substitution G A 3_prime_UTR_variant MELA-AU 14 105270373 105270373 single base substitution G A downstream_gene_variant MELA-AU 14 105270512 105270512 single base substitution A G 3_prime_UTR_variant MELA-AU 14 105270512 105270512 single base substitution A G downstream_gene_variant MELA-AU 14 105270649 105270649 single base substitution C T 3_prime_UTR_variant MELA-AU 14 105270649 105270649 single base substitution C T downstream_gene_variant MELA-AU 14 105271001 105271001 single base substitution C T 3_prime_UTR_variant MELA-AU 14 105271001 105271001 single base substitution C T downstream_gene_variant MELA-AU 14 105271069 105271069 single base substitution G A downstream_gene_variant MELA-AU 14 105271462 105271462 single base substitution C T downstream_gene_variant MELA-AU 14 105272397 105272397 single base substitution C T downstream_gene_variant MELA-AU 14 105272672 105272673 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 14 105273281 105273281 single base substitution G A downstream_gene_variant MELA-AU 14 105273557 105273557 single base substitution G A downstream_gene_variant MELA-AU 14 105273755 105273755 single base substitution G A downstream_gene_variant MELA-AU 14 105273854 105273854 single base substitution G A downstream_gene_variant MELA-AU 14 105274811 105274811 single base substitution G A downstream_gene_variant MELA-AU 14 105275029 105275029 single base substitution G A downstream_gene_variant MELA-AU 14 105275779 105275779 single base substitution C T downstream_gene_variant MELA-AU 14 105275846 105275846 single base substitution C T downstream_gene_variant MELA-AU 14 105275931 105275931 single base substitution C T downstream_gene_variant MELA-AU 14 105275996 105275996 single base substitution G A downstream_gene_variant OV-AU 14 105276005 105276005 single base substitution G A downstream_gene_variant PACA-AU 14 105268878 105268878 single base substitution G A 3_prime_UTR_variant PACA-AU 14 105268878 105268878 single base substitution G A downstream_gene_variant PACA-AU 14 105270129 105270129 single base substitution C T 3_prime_UTR_variant PACA-AU 14 105270129 105270129 single base substitution C T downstream_gene_variant PACA-AU 14 105275986 105275986 single base substitution C T downstream_gene_variant PACA-CA 14 105264583 105264583 single base substitution C T upstream_gene_variant PACA-CA 14 105265297 105265297 single base substitution T C upstream_gene_variant PACA-CA 14 105265491 105265491 single base substitution C A upstream_gene_variant PACA-CA 14 105268272 105268272 single base substitution G A synonymous_variant P246P 738G>A PACA-CA 14 105271429 105271429 single base substitution G A downstream_gene_variant PACA-CA 14 105272351 105272351 single base substitution G A downstream_gene_variant PACA-CA 14 105275466 105275466 single base substitution C T downstream_gene_variant PACA-CA 14 105276026 105276026 single base substitution C A downstream_gene_variant PBCA-DE 14 105263672 105263672 single base substitution C T upstream_gene_variant PBCA-DE 14 105266016 105266017 deletion of <=200bp CT - upstream_gene_variant PRAD-CA 14 105265069 105265069 single base substitution A C upstream_gene_variant PRAD-UK 14 105267802 105267802 single base substitution C T synonymous_variant L90L 268C>T PRAD-UK 14 105271718 105271724 deletion of <=200bp CTCCTGC - downstream_gene_variant PRAD-UK 14 105271751 105271751 single base substitution C T downstream_gene_variant PRAD-UK 14 105274805 105274805 single base substitution C A downstream_gene_variant READ-US 14 105267579 105267579 single base substitution A G synonymous_variant R15R 45A>G RECA-EU 14 105272944 105272944 single base substitution C T downstream_gene_variant SKCA-BR 14 105270480 105270482 deletion of <=200bp TGG - 3_prime_UTR_variant SKCA-BR 14 105270480 105270482 deletion of <=200bp TGG - downstream_gene_variant SKCA-BR 14 105270483 105270483 insertion of <=200bp - GGT 3_prime_UTR_variant SKCA-BR 14 105270483 105270483 insertion of <=200bp - GGT downstream_gene_variant SKCA-BR 14 105273302 105273302 single base substitution C T downstream_gene_variant SKCA-BR 14 105275318 105275324 deletion of <=200bp CTTTCTT - downstream_gene_variant UCEC-US 14 105268545 105268545 single base substitution G A synonymous_variant P337P 1011G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand SNU-C2B COSM4651180 c.631C>A p.L211I Substitution - Missense 14:104801828-104801828 + TCGA-AF-6136-01 COSM3749267 c.45A>G p.R15R Substitution - coding silent 14:104801242-104801242 + TCGA-AZ-4615-01 COSM3753821 c.400G>A p.A134T Substitution - Missense 14:104801597-104801597 + TCGA-AF-6136-01 COSM3749266 c.45A>G p.R15R Substitution - coding silent 14:104801242-104801242 + YURISA COSM5381945 c.630C>T p.P210P Substitution - coding silent 14:104801827-104801827 + TCGA-CM-6171-01 COSM3749267 c.45A>G p.R15R Substitution - coding silent 14:104801242-104801242 + 2318491 COSM4776746 c.286G>A p.E96K Substitution - Missense 14:104801483-104801483 + TCGA-AA-3663-01 COSM1368563 c.511C>T p.R171* Substitution - Nonsense 14:104801708-104801708 + SNU-C2B COSM4651182 c.1056C>T p.H352H Substitution - coding silent 14:104802253-104802253 + TCGA-AH-6644-01 COSM3749267 c.45A>G p.R15R Substitution - coding silent 14:104801242-104801242 + TCGA-CI-6620-01 COSM3749267 c.45A>G p.R15R Substitution - coding silent 14:104801242-104801242 + YUSMI COSM5381946 c.983C>T p.S328L Substitution - Missense 14:104802180-104802180 + PCSI_0083_Pa_P_526 COSM3786216 c.738G>A p.P246P Substitution - coding silent 14:104801935-104801935 + TCGA-CM-6164-01 COSM3749266 c.45A>G p.R15R Substitution - coding silent 14:104801242-104801242 + TCGA-AY-6197-01 COSM3749267 c.45A>G p.R15R Substitution - coding silent 14:104801242-104801242 + PD6404a COSM5768884 c.368G>T p.R123L Substitution - Missense 14:104801565-104801565 + TCGA-AA-3663-01 COSM3749267 c.45A>G p.R15R Substitution - coding silent 14:104801242-104801242 + HCT15 COSM4622901 c.672G>T p.K224N Substitution - Missense 14:104801869-104801869 + C086 COSM5541924 c.748C>T p.P250S Substitution - Missense 14:104801945-104801945 + HCT15 COSM4622900 c.672G>T p.K224N Substitution - Missense 14:104801869-104801869 + DLD1 COSM4622903 c.729C>T p.H243H Substitution - coding silent 14:104801926-104801926 + SNU-C2B COSM4651181 c.631C>A p.L211I Substitution - Missense 14:104801828-104801828 + YURISA COSM5381944 c.630C>T p.P210P Substitution - coding silent 14:104801827-104801827 + TCGA-AU-6004-01 COSM3749267 c.45A>G p.R15R Substitution - coding silent 14:104801242-104801242 + 2318491 COSM4776747 c.286G>A p.E96K Substitution - Missense 14:104801483-104801483 + RH30SJ_ COSM4985546 c.611C>T p.P204L Substitution - Missense 14:104801808-104801808 + SW48 COSM4656174 c.415C>T p.P139S Substitution - Missense 14:104801612-104801612 + TCGA-AP-A059-01 COSM1587247 c.1011G>A p.P337P Substitution - coding silent 14:104802208-104802208 + TCGA-AH-6644-01 COSM3749266 c.45A>G p.R15R Substitution - coding silent 14:104801242-104801242 + TCGA-CM-6164-01 COSM3749267 c.45A>G p.R15R Substitution - coding silent 14:104801242-104801242 + TCGA-AM-5821-01 COSM1477391 c.570G>A p.L190L Substitution - coding silent 14:104801767-104801767 + DLD1 COSM4622900 c.672G>T p.K224N Substitution - Missense 14:104801869-104801869 + TCGA-AZ-4615-01 COSM3753822 c.400G>A p.A134T Substitution - Missense 14:104801597-104801597 + TP_2032 COSM5548316 c.298G>C p.A100P Substitution - Missense 14:104801495-104801495 + TCGA-CA-6717-01 COSM3689976 c.176G>A p.G59D Substitution - Missense 14:104801373-104801373 + TCGA-AA-3662-01 COSM3749266 c.45A>G p.R15R Substitution - coding silent 14:104801242-104801242 + TCGA-AF-6655-01 COSM3749266 c.45A>G p.R15R Substitution - coding silent 14:104801242-104801242 + TCGA-CA-6717-01 COSM3689975 c.176G>A p.G59D Substitution - Missense 14:104801373-104801373 + TCGA-AG-4022-01 COSM3749267 c.45A>G p.R15R Substitution - coding silent 14:104801242-104801242 + DLD1 COSM4622901 c.672G>T p.K224N Substitution - Missense 14:104801869-104801869 + 2318491 COSM4776743 c.3G>A p.M1I Substitution - Missense 14:104801200-104801200 + C086 COSM5541925 c.749C>T p.P250L Substitution - Missense 14:104801946-104801946 + HCT15 COSM4622903 c.729C>T p.H243H Substitution - coding silent 14:104801926-104801926 + TCGA-AF-6655-01 COSM3749267 c.45A>G p.R15R Substitution - coding silent 14:104801242-104801242 + C086 COSM5541926 c.749C>T p.P250L Substitution - Missense 14:104801946-104801946 + TP_2032 COSM5548317 c.298G>C p.A100P Substitution - Missense 14:104801495-104801495 + SW48 COSM4656175 c.415C>T p.P139S Substitution - Missense 14:104801612-104801612 + TCGA-AZ-6598-01 COSM3749267 c.45A>G p.R15R Substitution - coding silent 14:104801242-104801242 + TCGA-AY-6197-01 COSM3749266 c.45A>G p.R15R Substitution - coding silent 14:104801242-104801242 + 2318491 COSM4776744 c.4G>A p.E2K Substitution - Missense 14:104801201-104801201 + TCGA-CM-6171-01 COSM3749266 c.45A>G p.R15R Substitution - coding silent 14:104801242-104801242 + RH30SJ_ COSM4985547 c.611C>T p.P204L Substitution - Missense 14:104801808-104801808 + TCGA-AP-A059-01 COSM1587246 c.1011G>A p.P337P Substitution - coding silent 14:104802208-104802208 + TCGA-AM-5821-01 COSM432722 c.570G>A p.L190L Substitution - coding silent 14:104801767-104801767 + TCGA-JW-A5VL-01 COSM4847787 c.1157G>A p.R386Q Substitution - Missense 14:104802354-104802354 + TCGA-AF-2693-01 COSM3749266 c.45A>G p.R15R Substitution - coding silent 14:104801242-104801242 + TCGA-AA-3663-01 COSM1368564 c.511C>T p.R171* Substitution - Nonsense 14:104801708-104801708 + TCGA-MH-A55Z-01 COSM3987529 c.994G>A p.V332M Substitution - Missense 14:104802191-104802191 + TCGA-E2-A14T-01 COSM432723 c.676G>A p.E226K Substitution - Missense 14:104801873-104801873 + TCGA-JW-A5VL-01 COSM4847788 c.1157G>A p.R386Q Substitution - Missense 14:104802354-104802354 + TCGA-AU-6004-01 COSM3749266 c.45A>G p.R15R Substitution - coding silent 14:104801242-104801242 + TCGA-CI-6624-01 COSM3749267 c.45A>G p.R15R Substitution - coding silent 14:104801242-104801242 + TCGA-AG-4022-01 COSM3749266 c.45A>G p.R15R Substitution - coding silent 14:104801242-104801242 + CCK81 COSM4620677 c.271C>T p.R91C Substitution - Missense 14:104801468-104801468 + SNU-C2B COSM4651183 c.1056C>T p.H352H Substitution - coding silent 14:104802253-104802253 + TCGA-CI-6620-01 COSM3749266 c.45A>G p.R15R Substitution - coding silent 14:104801242-104801242 + ESCC_76 COSM5635090 c.864G>T p.G288G Substitution - coding silent 14:104802061-104802061 + TCGA-AF-2693-01 COSM3749267 c.45A>G p.R15R Substitution - coding silent 14:104801242-104801242 + TCGA-AA-3662-01 COSM3749267 c.45A>G p.R15R Substitution - coding silent 14:104801242-104801242 + 2318491 COSM4776745 c.4G>A p.E2K Substitution - Missense 14:104801201-104801201 + TCGA-AZ-6598-01 COSM3749266 c.45A>G p.R15R Substitution - coding silent 14:104801242-104801242 + YUSMI COSM5381947 c.983C>T p.S328L Substitution - Missense 14:104802180-104802180 + ESCC_76 COSM5635089 c.864G>T p.G288G Substitution - coding silent 14:104802061-104802061 + TCGA-MH-A55Z-01 COSM3987528 c.994G>A p.V332M Substitution - Missense 14:104802191-104802191 + HCT15 COSM4622902 c.729C>T p.H243H Substitution - coding silent 14:104801926-104801926 + PD6404a COSM5768885 c.368G>T p.R123L Substitution - Missense 14:104801565-104801565 + C086 COSM5541923 c.748C>T p.P250S Substitution - Missense 14:104801945-104801945 + PCSI_0083_Pa_P_526 COSM3786217 c.738G>A p.P246P Substitution - coding silent 14:104801935-104801935 + CCK81 COSM4620676 c.271C>T p.R91C Substitution - Missense 14:104801468-104801468 + TCGA-E2-A14T-01 COSM1477392 c.676G>A p.E226K Substitution - Missense 14:104801873-104801873 + 2318491 COSM4776742 c.3G>A p.M1I Substitution - Missense 14:104801200-104801200 + DLD1 COSM4622902 c.729C>T p.H243H Substitution - coding silent 14:104801926-104801926 + TCGA-AA-3663-01 COSM3749266 c.45A>G p.R15R Substitution - coding silent 14:104801242-104801242 + TCGA-CI-6624-01 COSM3749266 c.45A>G p.R15R Substitution - coding silent 14:104801242-104801242 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.170853 14q32.33 613915

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer G A 3-UTRSNV . c.1266+778G>A 14 105269578 DLBCL G A Missense p.E226K c.676G>A 14 105268210 BRCA