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 17 73871533 73871533 + Silent SNP G G C TCGA-OR-A5KB-01A-11D-A30A-10 TCGA-OR-A5KB-11A-11D-A30A-10 g.chr17:73871533G>C c.1224C>G c.(1222-1224)ctC>ctG p.L408L BLCA 17 73870740 73870740 + Missense_Mutation SNP G G A TCGA-XF-A9SL-01A-11D-A391-08 TCGA-XF-A9SL-10A-01D-A394-08 g.chr17:73870740G>A c.1741C>T c.(1741-1743)Cgc>Tgc p.R581C BLCA 17 73870748 73870748 + Missense_Mutation SNP G G A TCGA-DK-AA71-01A-31D-A391-08 TCGA-DK-AA71-10A-01D-A394-08 g.chr17:73870748G>A c.1733C>T c.(1732-1734)tCc>tTc p.S578F BLCA 17 73871046 73871046 + Missense_Mutation SNP G G C TCGA-XF-A9T0-01A-11D-A391-08 TCGA-XF-A9T0-10A-01D-A394-08 g.chr17:73871046G>C c.1435C>G c.(1435-1437)Cga>Gga p.R479G BLCA 17 73872347 73872359 + Frame_Shift_Del DEL AGGAAGCTGACTG AGGAAGCTGACTG - TCGA-E7-A7PW-01A-11D-A34U-08 TCGA-E7-A7PW-10A-01D-A34X-08 g.chr17:73872347_73872359delAGGAAGCTGACTG c.986_998delCAGTCAGCTTCCT c.(985-999)tcagtcagcttcctgfs p.SVSFL329fs BLCA 17 73872363 73872363 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 g.chr17:73872363C>T c.982G>A c.(982-984)Gac>Aac p.D328N BRCA 17 73872004 73872004 + Silent SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 g.chr17:73872004C>T c.1179G>A c.(1177-1179)ggG>ggA p.G393G BRCA 17 73872166 73872166 + Silent SNP T T G TCGA-A8-A08R-01A-11W-A050-09 TCGA-A8-A08R-10A-01W-A055-09 g.chr17:73872166T>G c.1017A>C c.(1015-1017)ctA>ctC p.L339L BRCA 17 73872388 73872388 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 g.chr17:73872388C>G c.957G>C c.(955-957)caG>caC p.Q319H CESC 17 73871532 73871532 + Missense_Mutation SNP C C G TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 g.chr17:73871532C>G c.1225G>C c.(1225-1227)Gag>Cag p.E409Q COAD 17 73870624 73870624 + Silent SNP G G A TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr17:73870624G>A c.1857C>T c.(1855-1857)gaC>gaT p.D619D COAD 17 73870812 73870812 + Missense_Mutation SNP G G A TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr17:73870812G>A c.1669C>T c.(1669-1671)Cgt>Tgt p.R557C COAD 17 73870957 73870957 + Silent SNP G G A TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr17:73870957G>A c.1524C>T c.(1522-1524)taC>taT p.Y508Y COAD 17 73871098 73871098 + Silent SNP C C T TCGA-AA-3833-01A-01W-0900-09 TCGA-AA-3833-10A-01W-0900-09 g.chr17:73871098C>T c.1383G>A c.(1381-1383)tcG>tcA p.S461S COAD 17 73871167 73871169 + In_Frame_Del DEL GTC GTC - TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr17:73871167_73871169delGTC c.1312_1314delGAC c.(1312-1314)gacdel p.D438del COADREAD 17 73870624 73870624 + Silent SNP G G A TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr17:73870624G>A c.1857C>T c.(1855-1857)gaC>gaT p.D619D COADREAD 17 73870812 73870812 + Missense_Mutation SNP G G A TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr17:73870812G>A c.1669C>T c.(1669-1671)Cgt>Tgt p.R557C COADREAD 17 73870957 73870957 + Silent SNP G G A TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr17:73870957G>A c.1524C>T c.(1522-1524)taC>taT p.Y508Y COADREAD 17 73871098 73871098 + Silent SNP C C T TCGA-AA-3833-01A-01W-0900-09 TCGA-AA-3833-10A-01W-0900-09 g.chr17:73871098C>T c.1383G>A c.(1381-1383)tcG>tcA p.S461S COADREAD 17 73871167 73871169 + In_Frame_Del DEL GTC GTC - TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr17:73871167_73871169delGTC c.1312_1314delGAC c.(1312-1314)gacdel p.D438del GBMLGG 17 73871043 73871043 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:73871043C>A c.1438G>T c.(1438-1440)Ggc>Tgc p.G480C HNSC 17 73871028 73871028 + Nonsense_Mutation SNP C C A TCGA-BA-4078-01A-01D-1434-08 TCGA-BA-4078-10A-01D-1434-08 g.chr17:73871028C>A c.1453G>T c.(1453-1455)Gag>Tag p.E485* HNSC 17 73872555 73872555 + Missense_Mutation SNP G G A TCGA-D6-A6EP-01A-11D-A31L-08 TCGA-D6-A6EP-10A-01D-A31J-08 g.chr17:73872555G>A c.790C>T c.(790-792)Cgg>Tgg p.R264W KIPAN 17 73872839 73872839 + Missense_Mutation SNP G G A TCGA-HE-A5NI-01A-11D-A26P-10 TCGA-HE-A5NI-10A-01D-A26P-10 g.chr17:73872839G>A c.731C>T c.(730-732)gCt>gTt p.A244V KIRP 17 73872839 73872839 + Missense_Mutation SNP G G A TCGA-HE-A5NI-01A-11D-A26P-10 TCGA-HE-A5NI-10A-01D-A26P-10 g.chr17:73872839G>A c.731C>T c.(730-732)gCt>gTt p.A244V LGG 17 73871043 73871043 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:73871043C>A c.1438G>T c.(1438-1440)Ggc>Tgc p.G480C LIHC 17 73871178 73871178 + Missense_Mutation SNP C C T TCGA-DD-AADF-01A-11D-A40R-10 TCGA-DD-AADF-10A-01D-A40U-10 g.chr17:73871178C>T c.1303G>A c.(1303-1305)Gac>Aac p.D435N LUAD 17 73870695 73870695 + Missense_Mutation SNP G G A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 g.chr17:73870695G>A c.1786C>T c.(1786-1788)Cgc>Tgc p.R596C LUAD 17 73870763 73870763 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 g.chr17:73870763C>A c.1718G>T c.(1717-1719)cGg>cTg p.R573L LUAD 17 73872068 73872069 + Frame_Shift_Ins INS - - T TCGA-55-8514-01A-11D-2393-08 TCGA-55-8514-10A-01D-2393-08 g.chr17:73872068_73872069insT c.1114_1115insA c.(1114-1116)atgfs p.M372fs LUSC 17 73870746 73870746 + Missense_Mutation SNP G G A TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 g.chr17:73870746G>A c.1735C>T c.(1735-1737)Cgg>Tgg p.R579W LUSC 17 73870748 73870748 + Missense_Mutation SNP G G A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr17:73870748G>A c.1733C>T c.(1732-1734)tCc>tTc p.S578F LUSC 17 73870924 73870924 + Silent SNP G G A TCGA-66-2763-01A-01D-1522-08 TCGA-66-2763-11A-01D-1522-08 g.chr17:73870924G>A c.1557C>T c.(1555-1557)tcC>tcT p.S519S LUSC 17 73871553 73871553 + Missense_Mutation SNP C C T TCGA-22-5492-01A-01D-1632-08 TCGA-22-5492-11A-01D-1632-08 g.chr17:73871553C>T c.1204G>A c.(1204-1206)Gat>Aat p.D402N OV 17 73872052 73872052 + Silent SNP G G A TCGA-25-1326-01A-01W-0492-08 TCGA-25-1326-10A-01W-0492-08 g.chr17:73872052G>A c.1131C>T c.(1129-1131)tgC>tgT p.C377C PAAD 17 73870863 73870863 + Missense_Mutation SNP G G C TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 g.chr17:73870863G>C c.1618C>G c.(1618-1620)Ctg>Gtg p.L540V PAAD 17 73871062 73871062 + Silent SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr17:73871062G>A c.1419C>T c.(1417-1419)ggC>ggT p.G473G SKCM 17 73870972 73870972 + Silent SNP G G A TCGA-EE-A183-06A-11D-A196-08 TCGA-EE-A183-10A-01D-A198-08 g.chr17:73870972G>A c.1509C>T c.(1507-1509)tcC>tcT p.S503S SKCM 17 73872106 73872106 + Silent SNP G G A TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr17:73872106G>A c.1077C>T c.(1075-1077)ttC>ttT p.F359F SKCM 17 73872477 73872477 + Missense_Mutation SNP C C T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 g.chr17:73872477C>T c.868G>A c.(868-870)Gag>Aag p.E290K

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 17 73872363 73872363 single base substitution C T downstream_gene_variant BLCA-US 17 73872363 73872363 single base substitution C T exon_variant BLCA-US 17 73872363 73872363 single base substitution C T missense_variant D328N 982G>A BLCA-US 17 73872363 73872363 single base substitution C T missense_variant D90N 268G>A BLCA-US 17 73872363 73872363 single base substitution C T upstream_gene_variant BRCA-EU 17 73867812 73867812 insertion of <=200bp - T downstream_gene_variant BRCA-EU 17 73869195 73869195 single base substitution C G downstream_gene_variant BRCA-EU 17 73869724 73869724 single base substitution G A downstream_gene_variant BRCA-EU 17 73870303 73870303 single base substitution T C 3_prime_UTR_variant BRCA-EU 17 73870303 73870303 single base substitution T C downstream_gene_variant BRCA-EU 17 73870303 73870303 single base substitution T C missense_variant R179G 535A>G BRCA-EU 17 73871006 73871006 single base substitution C G downstream_gene_variant BRCA-EU 17 73871006 73871006 single base substitution C G exon_variant BRCA-EU 17 73871006 73871006 single base substitution C G missense_variant W254S 761G>C BRCA-EU 17 73871006 73871006 single base substitution C G missense_variant W492S 1475G>C BRCA-EU 17 73871006 73871006 single base substitution C G upstream_gene_variant BRCA-EU 17 73871415 73871415 single base substitution C T downstream_gene_variant BRCA-EU 17 73871415 73871415 single base substitution C T intron_variant BRCA-EU 17 73871415 73871415 single base substitution C T upstream_gene_variant BRCA-EU 17 73871698 73871701 deletion of <=200bp CACA - downstream_gene_variant BRCA-EU 17 73871698 73871701 deletion of <=200bp CACA - intron_variant BRCA-EU 17 73871698 73871701 deletion of <=200bp CACA - upstream_gene_variant BRCA-EU 17 73874484 73874484 single base substitution C G missense_variant G49A 146G>C BRCA-EU 17 73874484 73874484 single base substitution C G upstream_gene_variant BRCA-EU 17 73875289 73875289 single base substitution G A upstream_gene_variant BRCA-EU 17 73876047 73876047 single base substitution C G upstream_gene_variant BRCA-EU 17 73876933 73876933 deletion of <=200bp G - upstream_gene_variant BRCA-EU 17 73878243 73878243 single base substitution A G upstream_gene_variant BRCA-EU 17 73878355 73878355 single base substitution C G upstream_gene_variant BRCA-EU 17 73878523 73878523 single base substitution C G upstream_gene_variant BRCA-EU 17 73879071 73879071 single base substitution A C upstream_gene_variant BRCA-FR 17 73869195 73869195 single base substitution C G downstream_gene_variant BRCA-FR 17 73874484 73874484 single base substitution C G missense_variant G49A 146G>C BRCA-FR 17 73874484 73874484 single base substitution C G upstream_gene_variant BRCA-FR 17 73878355 73878355 single base substitution C G upstream_gene_variant BRCA-UK 17 73871525 73871525 single base substitution G C downstream_gene_variant BRCA-UK 17 73871525 73871525 single base substitution G C exon_variant BRCA-UK 17 73871525 73871525 single base substitution G C missense_variant T173R 518C>G BRCA-UK 17 73871525 73871525 single base substitution G C missense_variant T411R 1232C>G BRCA-UK 17 73871525 73871525 single base substitution G C upstream_gene_variant BRCA-UK 17 73872156 73872156 single base substitution G T downstream_gene_variant BRCA-UK 17 73872156 73872156 single base substitution G T exon_variant BRCA-UK 17 73872156 73872156 single base substitution G T missense_variant L105M 313C>A BRCA-UK 17 73872156 73872156 single base substitution G T missense_variant L343M 1027C>A BRCA-UK 17 73872156 73872156 single base substitution G T upstream_gene_variant BRCA-UK 17 73874968 73874968 single base substitution C T upstream_gene_variant BRCA-US 17 73872004 73872004 single base substitution C T downstream_gene_variant BRCA-US 17 73872004 73872004 single base substitution C T exon_variant BRCA-US 17 73872004 73872004 single base substitution C T synonymous_variant G155G 465G>A BRCA-US 17 73872004 73872004 single base substitution C T synonymous_variant G393G 1179G>A BRCA-US 17 73872004 73872004 single base substitution C T upstream_gene_variant BRCA-US 17 73872166 73872166 single base substitution T G downstream_gene_variant BRCA-US 17 73872166 73872166 single base substitution T G exon_variant BRCA-US 17 73872166 73872166 single base substitution T G synonymous_variant L101L 303A>C BRCA-US 17 73872166 73872166 single base substitution T G synonymous_variant L339L 1017A>C BRCA-US 17 73872166 73872166 single base substitution T G upstream_gene_variant BRCA-US 17 73872388 73872388 single base substitution C G downstream_gene_variant BRCA-US 17 73872388 73872388 single base substitution C G exon_variant BRCA-US 17 73872388 73872388 single base substitution C G missense_variant Q319H 957G>C BRCA-US 17 73872388 73872388 single base substitution C G missense_variant Q81H 243G>C BRCA-US 17 73872388 73872388 single base substitution C G upstream_gene_variant BTCA-JP 17 73871911 73871911 single base substitution G A downstream_gene_variant BTCA-JP 17 73871911 73871911 single base substitution G A intron_variant BTCA-JP 17 73871911 73871911 single base substitution G A upstream_gene_variant BTCA-JP 17 73874587 73874587 single base substitution G A missense_variant P15S 43C>T BTCA-JP 17 73874587 73874587 single base substitution G A upstream_gene_variant CESC-US 17 73871532 73871532 single base substitution C G downstream_gene_variant CESC-US 17 73871532 73871532 single base substitution C G exon_variant CESC-US 17 73871532 73871532 single base substitution C G missense_variant E171Q 511G>C CESC-US 17 73871532 73871532 single base substitution C G missense_variant E409Q 1225G>C CESC-US 17 73871532 73871532 single base substitution C G upstream_gene_variant COAD-US 17 73870624 73870624 single base substitution G A downstream_gene_variant COAD-US 17 73870624 73870624 single base substitution G A exon_variant COAD-US 17 73870624 73870624 single base substitution G A missense_variant R72C 214C>T COAD-US 17 73870624 73870624 single base substitution G A synonymous_variant D381D 1143C>T COAD-US 17 73870624 73870624 single base substitution G A synonymous_variant D619D 1857C>T COAD-US 17 73870812 73870812 single base substitution G A downstream_gene_variant COAD-US 17 73870812 73870812 single base substitution G A exon_variant COAD-US 17 73870812 73870812 single base substitution G A missense_variant R319C 955C>T COAD-US 17 73870812 73870812 single base substitution G A missense_variant R54C 160C>T COAD-US 17 73870812 73870812 single base substitution G A missense_variant R557C 1669C>T COCA-CN 17 73870624 73870624 single base substitution G A downstream_gene_variant COCA-CN 17 73870624 73870624 single base substitution G A exon_variant COCA-CN 17 73870624 73870624 single base substitution G A missense_variant R72C 214C>T COCA-CN 17 73870624 73870624 single base substitution G A synonymous_variant D381D 1143C>T COCA-CN 17 73870624 73870624 single base substitution G A synonymous_variant D619D 1857C>T ESAD-UK 17 73867966 73867966 deletion of <=200bp T - downstream_gene_variant ESAD-UK 17 73869884 73869884 single base substitution C G downstream_gene_variant ESAD-UK 17 73869888 73869888 single base substitution C T downstream_gene_variant ESAD-UK 17 73870763 73870763 single base substitution C T downstream_gene_variant ESAD-UK 17 73870763 73870763 single base substitution C T exon_variant ESAD-UK 17 73870763 73870763 single base substitution C T intron_variant ESAD-UK 17 73870763 73870763 single base substitution C T missense_variant R335Q 1004G>A ESAD-UK 17 73870763 73870763 single base substitution C T missense_variant R573Q 1718G>A ESAD-UK 17 73872592 73872592 single base substitution G A exon_variant ESAD-UK 17 73872592 73872592 single base substitution G A intron_variant ESAD-UK 17 73872592 73872592 single base substitution G A upstream_gene_variant ESAD-UK 17 73874949 73874949 single base substitution G A upstream_gene_variant ESAD-UK 17 73876754 73876754 single base substitution G A upstream_gene_variant ESAD-UK 17 73876806 73876806 single base substitution G A upstream_gene_variant ESAD-UK 17 73878476 73878476 single base substitution G A upstream_gene_variant ESAD-UK 17 73878664 73878664 single base substitution G T upstream_gene_variant KIRP-US 17 73872839 73872839 single base substitution G A exon_variant KIRP-US 17 73872839 73872839 single base substitution G A missense_variant A244V 731C>T KIRP-US 17 73872839 73872839 single base substitution G A missense_variant A6V 17C>T KIRP-US 17 73872839 73872839 single base substitution G A upstream_gene_variant LICA-CN 17 73870606 73870606 single base substitution C A downstream_gene_variant LICA-CN 17 73870606 73870606 single base substitution C A exon_variant LICA-CN 17 73870606 73870606 single base substitution C A missense_variant A78S 232G>T LICA-CN 17 73870606 73870606 single base substitution C A synonymous_variant G387G 1161G>T LICA-CN 17 73870606 73870606 single base substitution C A synonymous_variant G625G 1875G>T LINC-JP 17 73870365 73870365 single base substitution G T 3_prime_UTR_variant LINC-JP 17 73870365 73870365 single base substitution G T downstream_gene_variant LINC-JP 17 73870365 73870365 single base substitution G T stop_gained S158* 473C>A LINC-JP 17 73871958 73871958 single base substitution G A downstream_gene_variant LINC-JP 17 73871958 73871958 single base substitution G A exon_variant LINC-JP 17 73871958 73871958 single base substitution G A intron_variant LINC-JP 17 73871958 73871958 single base substitution G A upstream_gene_variant LINC-JP 17 73874303 73874303 single base substitution C T synonymous_variant P109P 327G>A LINC-JP 17 73874303 73874303 single base substitution C T upstream_gene_variant LIRI-JP 17 73867350 73867350 single base substitution T C downstream_gene_variant LIRI-JP 17 73869839 73869839 single base substitution C T downstream_gene_variant LIRI-JP 17 73872353 73872356 deletion of <=200bp CTGA - downstream_gene_variant LIRI-JP 17 73872353 73872356 deletion of <=200bp CTGA - exon_variant LIRI-JP 17 73872353 73872356 deletion of <=200bp CTGA - frameshift_variant VS330 LIRI-JP 17 73872353 73872356 deletion of <=200bp CTGA - frameshift_variant VS92 LIRI-JP 17 73872353 73872356 deletion of <=200bp CTGA - upstream_gene_variant LIRI-JP 17 73875520 73875520 single base substitution C T upstream_gene_variant LIRI-JP 17 73875643 73875643 single base substitution G A upstream_gene_variant LIRI-JP 17 73877033 73877033 single base substitution A C upstream_gene_variant LIRI-JP 17 73877035 73877035 single base substitution A G upstream_gene_variant LIRI-JP 17 73879027 73879027 single base substitution C G upstream_gene_variant LUSC-KR 17 73868945 73868945 single base substitution G T downstream_gene_variant LUSC-KR 17 73871235 73871235 single base substitution G A downstream_gene_variant LUSC-KR 17 73871235 73871235 single base substitution G A intron_variant LUSC-KR 17 73871235 73871235 single base substitution G A upstream_gene_variant LUSC-KR 17 73872948 73872948 single base substitution A G 5_prime_UTR_variant LUSC-KR 17 73872948 73872948 single base substitution A G intron_variant LUSC-KR 17 73872948 73872948 single base substitution A G upstream_gene_variant LUSC-KR 17 73875466 73875466 single base substitution G C upstream_gene_variant LUSC-US 17 73870746 73870746 single base substitution G A downstream_gene_variant LUSC-US 17 73870746 73870746 single base substitution G A exon_variant LUSC-US 17 73870746 73870746 single base substitution G A intron_variant LUSC-US 17 73870746 73870746 single base substitution G A missense_variant R341W 1021C>T LUSC-US 17 73870746 73870746 single base substitution G A missense_variant R579W 1735C>T LUSC-US 17 73870748 73870748 single base substitution G A downstream_gene_variant LUSC-US 17 73870748 73870748 single base substitution G A exon_variant LUSC-US 17 73870748 73870748 single base substitution G A intron_variant LUSC-US 17 73870748 73870748 single base substitution G A missense_variant S340F 1019C>T LUSC-US 17 73870748 73870748 single base substitution G A missense_variant S578F 1733C>T LUSC-US 17 73870924 73870924 single base substitution G A downstream_gene_variant LUSC-US 17 73870924 73870924 single base substitution G A exon_variant LUSC-US 17 73870924 73870924 single base substitution G A synonymous_variant S16S 48C>T LUSC-US 17 73870924 73870924 single base substitution G A synonymous_variant S281S 843C>T LUSC-US 17 73870924 73870924 single base substitution G A synonymous_variant S519S 1557C>T LUSC-US 17 73871553 73871553 single base substitution C T downstream_gene_variant LUSC-US 17 73871553 73871553 single base substitution C T exon_variant LUSC-US 17 73871553 73871553 single base substitution C T missense_variant D164N 490G>A LUSC-US 17 73871553 73871553 single base substitution C T missense_variant D402N 1204G>A LUSC-US 17 73871553 73871553 single base substitution C T upstream_gene_variant MALY-DE 17 73866747 73866747 single base substitution C A downstream_gene_variant MALY-DE 17 73872538 73872538 single base substitution C T exon_variant MALY-DE 17 73872538 73872538 single base substitution C T synonymous_variant R269R 807G>A MALY-DE 17 73872538 73872538 single base substitution C T synonymous_variant R31R 93G>A MALY-DE 17 73872538 73872538 single base substitution C T upstream_gene_variant MALY-DE 17 73878373 73878373 single base substitution C T upstream_gene_variant MELA-AU 17 73865617 73865617 single base substitution T A downstream_gene_variant MELA-AU 17 73865764 73865764 single base substitution C A downstream_gene_variant MELA-AU 17 73865866 73865866 single base substitution G A downstream_gene_variant MELA-AU 17 73867309 73867309 single base substitution A T downstream_gene_variant MELA-AU 17 73867427 73867427 single base substitution A G downstream_gene_variant MELA-AU 17 73868082 73868082 single base substitution G A downstream_gene_variant MELA-AU 17 73868121 73868122 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 17 73868367 73868367 single base substitution G A downstream_gene_variant MELA-AU 17 73870026 73870026 single base substitution G A downstream_gene_variant MELA-AU 17 73870081 73870082 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 17 73870097 73870097 single base substitution C T downstream_gene_variant MELA-AU 17 73870144 73870144 single base substitution G A downstream_gene_variant MELA-AU 17 73870375 73870375 single base substitution G A 3_prime_UTR_variant MELA-AU 17 73870375 73870375 single base substitution G A downstream_gene_variant MELA-AU 17 73870375 73870375 single base substitution G A synonymous_variant L155L 463C>T MELA-AU 17 73870406 73870407 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 17 73870406 73870407 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 17 73870406 73870407 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant S144F 431CC>TT MELA-AU 17 73870582 73870582 single base substitution G A downstream_gene_variant MELA-AU 17 73870582 73870582 single base substitution G A missense_variant R86C 256C>T MELA-AU 17 73870582 73870582 single base substitution G A synonymous_variant S395S 1185C>T MELA-AU 17 73870582 73870582 single base substitution G A synonymous_variant S633S 1899C>T MELA-AU 17 73870720 73870741 deletion of <=200bp GGCCGGGATGCCACCCCGGCGG - downstream_gene_variant MELA-AU 17 73870720 73870741 deletion of <=200bp GGCCGGGATGCCACCCCGGCGG - exon_variant MELA-AU 17 73870720 73870741 deletion of <=200bp GGCCGGGATGCCACCCCGGCGG - frameshift_variant PRRGGIPA342 MELA-AU 17 73870720 73870741 deletion of <=200bp GGCCGGGATGCCACCCCGGCGG - frameshift_variant PRRGGIPA580 MELA-AU 17 73870720 73870741 deletion of <=200bp GGCCGGGATGCCACCCCGGCGG - intron_variant MELA-AU 17 73870942 73870942 single base substitution C A downstream_gene_variant MELA-AU 17 73870942 73870942 single base substitution C A exon_variant MELA-AU 17 73870942 73870942 single base substitution C A synonymous_variant L10L 30G>T MELA-AU 17 73870942 73870942 single base substitution C A synonymous_variant L275L 825G>T MELA-AU 17 73870942 73870942 single base substitution C A synonymous_variant L513L 1539G>T MELA-AU 17 73871038 73871038 single base substitution G C downstream_gene_variant MELA-AU 17 73871038 73871038 single base substitution G C exon_variant MELA-AU 17 73871038 73871038 single base substitution G C synonymous_variant T243T 729C>G MELA-AU 17 73871038 73871038 single base substitution G C synonymous_variant T481T 1443C>G MELA-AU 17 73871038 73871038 single base substitution G C upstream_gene_variant MELA-AU 17 73871046 73871046 single base substitution G A downstream_gene_variant MELA-AU 17 73871046 73871046 single base substitution G A exon_variant MELA-AU 17 73871046 73871046 single base substitution G A stop_gained R241* 721C>T MELA-AU 17 73871046 73871046 single base substitution G A stop_gained R479* 1435C>T MELA-AU 17 73871046 73871046 single base substitution G A upstream_gene_variant MELA-AU 17 73872858 73872858 single base substitution G C 5_prime_UTR_variant MELA-AU 17 73872858 73872858 single base substitution G C exon_variant MELA-AU 17 73872858 73872858 single base substitution G C missense_variant R238G 712C>G MELA-AU 17 73872858 73872858 single base substitution G C upstream_gene_variant MELA-AU 17 73873406 73873406 single base substitution C A intron_variant MELA-AU 17 73873406 73873406 single base substitution C A upstream_gene_variant MELA-AU 17 73873458 73873458 single base substitution G A intron_variant MELA-AU 17 73873458 73873458 single base substitution G A upstream_gene_variant MELA-AU 17 73874809 73874809 single base substitution C T upstream_gene_variant MELA-AU 17 73875379 73875379 single base substitution C T upstream_gene_variant MELA-AU 17 73875465 73875465 single base substitution G A upstream_gene_variant MELA-AU 17 73875466 73875466 single base substitution G T upstream_gene_variant MELA-AU 17 73875815 73875815 single base substitution G A upstream_gene_variant MELA-AU 17 73877148 73877148 single base substitution G A upstream_gene_variant MELA-AU 17 73877332 73877332 single base substitution A G upstream_gene_variant MELA-AU 17 73877335 73877335 single base substitution A G upstream_gene_variant MELA-AU 17 73877397 73877397 single base substitution C T upstream_gene_variant MELA-AU 17 73877416 73877416 single base substitution C T upstream_gene_variant MELA-AU 17 73877480 73877480 single base substitution G A upstream_gene_variant MELA-AU 17 73877636 73877636 single base substitution G A upstream_gene_variant MELA-AU 17 73877679 73877679 single base substitution G A upstream_gene_variant MELA-AU 17 73877792 73877792 single base substitution C T upstream_gene_variant MELA-AU 17 73878567 73878567 single base substitution G A upstream_gene_variant MELA-AU 17 73878700 73878700 single base substitution C T upstream_gene_variant ORCA-IN 17 73867507 73867507 single base substitution A G downstream_gene_variant ORCA-IN 17 73868199 73868199 single base substitution G A downstream_gene_variant ORCA-IN 17 73868968 73868968 single base substitution G A downstream_gene_variant ORCA-IN 17 73870654 73870654 single base substitution G A downstream_gene_variant ORCA-IN 17 73870654 73870654 single base substitution G A exon_variant ORCA-IN 17 73870654 73870654 single base substitution G A stop_gained Q62* 184C>T ORCA-IN 17 73870654 73870654 single base substitution G A synonymous_variant L371L 1113C>T ORCA-IN 17 73870654 73870654 single base substitution G A synonymous_variant L609L 1827C>T ORCA-IN 17 73871871 73871871 single base substitution T G downstream_gene_variant ORCA-IN 17 73871871 73871871 single base substitution T G intron_variant ORCA-IN 17 73871871 73871871 single base substitution T G upstream_gene_variant OV-AU 17 73866649 73866649 single base substitution T A downstream_gene_variant OV-AU 17 73876786 73876786 single base substitution C T upstream_gene_variant PACA-AU 17 73867195 73867195 single base substitution C A downstream_gene_variant PACA-AU 17 73867334 73867334 single base substitution A T downstream_gene_variant PACA-AU 17 73867416 73867416 single base substitution A G downstream_gene_variant PACA-AU 17 73868418 73868418 insertion of <=200bp - T downstream_gene_variant PACA-AU 17 73868747 73868747 single base substitution G C downstream_gene_variant PACA-AU 17 73868763 73868763 single base substitution G A downstream_gene_variant PACA-AU 17 73868968 73868968 single base substitution G A downstream_gene_variant PACA-AU 17 73868999 73868999 single base substitution G T downstream_gene_variant PACA-AU 17 73869410 73869410 single base substitution G T downstream_gene_variant PACA-AU 17 73869573 73869573 single base substitution G A downstream_gene_variant PACA-AU 17 73869574 73869574 single base substitution G T downstream_gene_variant PACA-AU 17 73869934 73869934 single base substitution G T downstream_gene_variant PACA-AU 17 73870101 73870101 insertion of <=200bp - C downstream_gene_variant PACA-AU 17 73870147 73870147 single base substitution C T downstream_gene_variant PACA-AU 17 73870226 73870226 single base substitution G C downstream_gene_variant PACA-AU 17 73871820 73871820 single base substitution G C downstream_gene_variant PACA-AU 17 73871820 73871820 single base substitution G C intron_variant PACA-AU 17 73871820 73871820 single base substitution G C upstream_gene_variant PACA-AU 17 73875325 73875325 single base substitution G A upstream_gene_variant PACA-AU 17 73875925 73875925 single base substitution C T upstream_gene_variant PACA-CA 17 73866748 73866748 deletion of <=200bp T - downstream_gene_variant PACA-CA 17 73867965 73867965 insertion of <=200bp - T downstream_gene_variant PACA-CA 17 73868766 73868766 single base substitution G A downstream_gene_variant PACA-CA 17 73870115 73870115 single base substitution G T downstream_gene_variant PACA-CA 17 73870582 73870582 single base substitution G C downstream_gene_variant PACA-CA 17 73870582 73870582 single base substitution G C missense_variant R86G 256C>G PACA-CA 17 73870582 73870582 single base substitution G C synonymous_variant S395S 1185C>G PACA-CA 17 73870582 73870582 single base substitution G C synonymous_variant S633S 1899C>G PACA-CA 17 73870933 73870933 single base substitution G A downstream_gene_variant PACA-CA 17 73870933 73870933 single base substitution G A exon_variant PACA-CA 17 73870933 73870933 single base substitution G A synonymous_variant N13N 39C>T PACA-CA 17 73870933 73870933 single base substitution G A synonymous_variant N278N 834C>T PACA-CA 17 73870933 73870933 single base substitution G A synonymous_variant N516N 1548C>T PACA-CA 17 73878118 73878118 single base substitution G A upstream_gene_variant PACA-CA 17 73879552 73879552 insertion of <=200bp - T upstream_gene_variant PBCA-DE 17 73872870 73872870 single base substitution C T 5_prime_UTR_variant PBCA-DE 17 73872870 73872870 single base substitution C T exon_variant PBCA-DE 17 73872870 73872870 single base substitution C T missense_variant A234T 700G>A PBCA-DE 17 73872870 73872870 single base substitution C T upstream_gene_variant PRAD-UK 17 73868102 73868102 single base substitution T C downstream_gene_variant PRAD-UK 17 73871336 73871336 single base substitution G A downstream_gene_variant PRAD-UK 17 73871336 73871336 single base substitution G A intron_variant PRAD-UK 17 73871336 73871336 single base substitution G A upstream_gene_variant RECA-EU 17 73878631 73878631 single base substitution T C upstream_gene_variant SKCA-BR 17 73865699 73865699 single base substitution G A downstream_gene_variant SKCA-BR 17 73868830 73868830 single base substitution G A downstream_gene_variant SKCA-BR 17 73868831 73868831 single base substitution G A downstream_gene_variant SKCA-BR 17 73870612 73870612 single base substitution C T downstream_gene_variant SKCA-BR 17 73870612 73870612 single base substitution C T exon_variant SKCA-BR 17 73870612 73870612 single base substitution C T missense_variant D76N 226G>A SKCA-BR 17 73870612 73870612 single base substitution C T synonymous_variant Q385Q 1155G>A SKCA-BR 17 73870612 73870612 single base substitution C T synonymous_variant Q623Q 1869G>A SKCA-BR 17 73873942 73873942 single base substitution C T 5_prime_UTR_variant SKCA-BR 17 73873942 73873942 single base substitution C T intron_variant SKCA-BR 17 73873942 73873942 single base substitution C T upstream_gene_variant SKCA-BR 17 73876321 73876325 deletion of <=200bp ATTCT - upstream_gene_variant SKCA-BR 17 73876793 73876793 single base substitution C T upstream_gene_variant SKCA-BR 17 73877877 73877877 single base substitution C T upstream_gene_variant SKCM-US 17 73870972 73870972 single base substitution G A 5_prime_UTR_variant SKCM-US 17 73870972 73870972 single base substitution G A downstream_gene_variant SKCM-US 17 73870972 73870972 single base substitution G A exon_variant SKCM-US 17 73870972 73870972 single base substitution G A synonymous_variant S265S 795C>T SKCM-US 17 73870972 73870972 single base substitution G A synonymous_variant S503S 1509C>T SKCM-US 17 73872106 73872106 single base substitution G A downstream_gene_variant SKCM-US 17 73872106 73872106 single base substitution G A exon_variant SKCM-US 17 73872106 73872106 single base substitution G A synonymous_variant F121F 363C>T SKCM-US 17 73872106 73872106 single base substitution G A synonymous_variant F359F 1077C>T SKCM-US 17 73872106 73872106 single base substitution G A upstream_gene_variant SKCM-US 17 73872477 73872477 single base substitution C T downstream_gene_variant SKCM-US 17 73872477 73872477 single base substitution C T missense_variant E290K 868G>A SKCM-US 17 73872477 73872477 single base substitution C T missense_variant E52K 154G>A SKCM-US 17 73872477 73872477 single base substitution C T upstream_gene_variant STAD-US 17 73870678 73870679 deletion of <=200bp AA - downstream_gene_variant STAD-US 17 73870678 73870679 deletion of <=200bp AA - exon_variant STAD-US 17 73870678 73870679 deletion of <=200bp AA - frameshift_variant F363 STAD-US 17 73870678 73870679 deletion of <=200bp AA - frameshift_variant F601 STAD-US 17 73870678 73870679 deletion of <=200bp AA - intron_variant STAD-US 17 73871176 73871176 single base substitution G A downstream_gene_variant STAD-US 17 73871176 73871176 single base substitution G A exon_variant STAD-US 17 73871176 73871176 single base substitution G A synonymous_variant D197D 591C>T STAD-US 17 73871176 73871176 single base substitution G A synonymous_variant D435D 1305C>T STAD-US 17 73871176 73871176 single base substitution G A upstream_gene_variant STAD-US 17 73871509 73871509 single base substitution A G downstream_gene_variant STAD-US 17 73871509 73871509 single base substitution A G exon_variant STAD-US 17 73871509 73871509 single base substitution A G synonymous_variant S178S 534T>C STAD-US 17 73871509 73871509 single base substitution A G synonymous_variant S416S 1248T>C STAD-US 17 73871509 73871509 single base substitution A G upstream_gene_variant THCA-US 17 73870808 73870808 single base substitution G A downstream_gene_variant THCA-US 17 73870808 73870808 single base substitution G A exon_variant THCA-US 17 73870808 73870808 single base substitution G A missense_variant A320V 959C>T THCA-US 17 73870808 73870808 single base substitution G A missense_variant A558V 1673C>T THCA-US 17 73870808 73870808 single base substitution G A missense_variant A55V 164C>T UCEC-US 17 73870695 73870695 single base substitution G A downstream_gene_variant UCEC-US 17 73870695 73870695 single base substitution G A exon_variant UCEC-US 17 73870695 73870695 single base substitution G A intron_variant UCEC-US 17 73870695 73870695 single base substitution G A missense_variant R358C 1072C>T UCEC-US 17 73870695 73870695 single base substitution G A missense_variant R596C 1786C>T UCEC-US 17 73870764 73870764 single base substitution G A downstream_gene_variant UCEC-US 17 73870764 73870764 single base substitution G A exon_variant UCEC-US 17 73870764 73870764 single base substitution G A intron_variant UCEC-US 17 73870764 73870764 single base substitution G A missense_variant R335W 1003C>T UCEC-US 17 73870764 73870764 single base substitution G A missense_variant R573W 1717C>T UCEC-US 17 73870925 73870925 single base substitution G A downstream_gene_variant UCEC-US 17 73870925 73870925 single base substitution G A exon_variant UCEC-US 17 73870925 73870925 single base substitution G A missense_variant S16F 47C>T UCEC-US 17 73870925 73870925 single base substitution G A missense_variant S281F 842C>T UCEC-US 17 73870925 73870925 single base substitution G A missense_variant S519F 1556C>T UCEC-US 17 73871014 73871014 single base substitution G A downstream_gene_variant UCEC-US 17 73871014 73871014 single base substitution G A exon_variant UCEC-US 17 73871014 73871014 single base substitution G A synonymous_variant I251I 753C>T UCEC-US 17 73871014 73871014 single base substitution G A synonymous_variant I489I 1467C>T UCEC-US 17 73871014 73871014 single base substitution G A upstream_gene_variant UCEC-US 17 73872484 73872484 single base substitution G T downstream_gene_variant UCEC-US 17 73872484 73872484 single base substitution G T synonymous_variant G287G 861C>A UCEC-US 17 73872484 73872484 single base substitution G T synonymous_variant G49G 147C>A UCEC-US 17 73872484 73872484 single base substitution G T upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-AA-3966-01 COSM273381 c.1524C>T p.Y508Y Substitution - coding silent 17:75874876-75874876 - TARGET-30-PAPKXS COSM1288623 c.1102G>A p.A368T Substitution - Missense 17:75876000-75876000 - TCGA-22-5492-01 COSM707183 c.1204G>A p.D402N Substitution - Missense 17:75875472-75875472 - HCC107T COSM1610786 c.327G>A p.P109P Substitution - coding silent 17:75878222-75878222 - TCGA-F4-6856-01 COSM1386070 c.1857C>T p.D619D Substitution - coding silent 17:75874543-75874543 - TCGA-D1-A103-01 COSM984509 c.861C>A p.G287G Substitution - coding silent 17:75876403-75876403 - pfg024T COSM1640808 c.1251A>T p.E417D Substitution - Missense 17:75875425-75875425 - PD4100a COSM165138 c.1027C>A p.L343M Substitution - Missense 17:75876075-75876075 - 587228 COSM1230347 c.1741C>T p.R581C Substitution - Missense 17:75874659-75874659 - 1604875 COSM141517 c.946C>T p.R316* Substitution - Nonsense 17:75876318-75876318 - CHC322T COSM3766183 c.559C>T p.R187W Substitution - Missense 17:75877990-75877990 - C135 COSM4617814 c.1743C>T p.R581R Substitution - coding silent 17:75874657-75874657 - TCGA-A8-A08R-01 COSM437401 c.1017A>C p.L339L Substitution - coding silent 17:75876085-75876085 - 2492703 COSM5600721 c.1695G>A p.R565R Substitution - coding silent 17:75874705-75874705 - 112503 COSM96252 c.846G>A p.Q282Q Substitution - coding silent 17:75876418-75876418 - HCC1187 COSM24050 c.1680_1681insC p.F561fs*31 Insertion - Frameshift 17:75874719-75874720 - TCGA-AA-3496-01 COSM5098174 c.836A>G p.Q279R Substitution - Missense 17:75876428-75876428 - TCGA-CK-4951-01 COSM5149556 c.33C>T p.I11I Substitution - coding silent 17:75878516-75878516 - T3720 COSM4736123 c.649C>T p.L217L Substitution - coding silent 17:75877900-75877900 - HCT8 COSM1680094 c.835C>T p.Q279* Substitution - Nonsense 17:75876429-75876429 - TCGA-C5-A1M6-01 COSM4826660 c.1225G>C p.E409Q Substitution - Missense 17:75875451-75875451 - I2L-P19Tb-Tumor-Organoid COSM5364096 c.1481G>A p.S494N Substitution - Missense 17:75874919-75874919 - LUAD-TLLGS COSM347561 c.1002+2T>C p.? Unknown 17:75876260-75876260 - TCGA-AA-3833-01 COSM271573 c.1383G>A p.S461S Substitution - coding silent 17:75875017-75875017 - 3N62-VS-3T62 COSM4984437 c.983A>C p.D328A Substitution - Missense 17:75876281-75876281 - TCGA-A5-A0GP-01 COSM562448 c.1786C>T p.R596C Substitution - Missense 17:75874614-75874614 - Au2 COSM5600721 c.1695G>A p.R565R Substitution - coding silent 17:75874705-75874705 - T3118 COSM4736120 c.1815C>T p.F605F Substitution - coding silent 17:75874585-75874585 - 2492702 COSM5600721 c.1695G>A p.R565R Substitution - coding silent 17:75874705-75874705 - XHDG38 COSM4769901 c.567C>T p.L189L Substitution - coding silent 17:75877982-75877982 - RKO COSM2742361 c.1804G>A p.A602T Substitution - Missense 17:75874596-75874596 - TCGA-DK-A2I4-01 COSM3796108 c.982G>A p.D328N Substitution - Missense 17:75876282-75876282 - HCT15 COSM1680094 c.835C>T p.Q279* Substitution - Nonsense 17:75876429-75876429 - TCGA-25-1326-01 COSM80677 c.1131C>T p.C377C Substitution - coding silent 17:75875971-75875971 - TCGA-EE-A2GR-06 COSM3522349 c.868G>A p.E290K Substitution - Missense 17:75876396-75876396 - TCGA-D8-A1JA-01 COSM3820584 c.1179G>A p.G393G Substitution - coding silent 17:75875923-75875923 - TCGA-CK-4951-01 COSM5149555 c.1823G>A p.R608K Substitution - Missense 17:75874577-75874577 - 2290929 COSM4440451 c.1745G>A p.R582Q Substitution - Missense 17:75874655-75874655 - 034T COSM1728549 c.1504T>C p.F502L Substitution - Missense 17:75874896-75874896 - TCGA-HE-A5NI-01 COSM4414202 c.731C>T p.A244V Substitution - Missense 17:75876758-75876758 - CSCC-35-T COSM4520598 c.1066G>A p.E356K Substitution - Missense 17:75876036-75876036 - CSCC-7-T COSM4565100 c.1740_1741CC>TT p.R581C Substitution - Missense 17:75874659-75874660 - HCT-15 COSM1680094 c.835C>T p.Q279* Substitution - Nonsense 17:75876429-75876429 - HCT8 COSM4634267 c.68C>A p.P23H Substitution - Missense 17:75878481-75878481 - YUQUEST COSM5387338 c.1740C>T p.P580P Substitution - coding silent 17:75874660-75874660 - ESCC_153 COSM5645656 c.1083A>G p.K361K Substitution - coding silent 17:75876019-75876019 - PD13755a COSM5777088 c.1475G>C p.W492S Substitution - Missense 17:75874925-75874925 - CSCC-6-T COSM4271325 c.1589C>T p.S530F Substitution - Missense 17:75874811-75874811 - TCGA-AA-A022-01 COSM5124547 c.1893C>T p.C631C Substitution - coding silent 17:75874507-75874507 - NYU872 COSM4771320 c.957G>A p.Q319Q Substitution - coding silent 17:75876307-75876307 - TCGA-BR-8284-01 COSM4069713 c.1305C>T p.D435D Substitution - coding silent 17:75875095-75875095 - I2L-P19Tb-Tumor-Biopsy COSM5364096 c.1481G>A p.S494N Substitution - Missense 17:75874919-75874919 - TCGA-DJ-A3V7-01 COSM3370909 c.1673C>T p.A558V Substitution - Missense 17:75874727-75874727 - 2492700 COSM5600721 c.1695G>A p.R565R Substitution - coding silent 17:75874705-75874705 - HCC022T COSM5817621 c.1875G>T p.G625G Substitution - coding silent 17:75874525-75874525 - TCGA-66-2763-01 COSM707184 c.1557C>T p.S519S Substitution - coding silent 17:75874843-75874843 - PD3858a COSM165137 c.1232C>G p.T411R Substitution - Missense 17:75875444-75875444 - 113801 COSM95407 c.1577G>A p.G526E Substitution - Missense 17:75874823-75874823 - ESO-859 COSM1240519 c.1681T>C p.F561L Substitution - Missense 17:75874719-75874719 - TCGA-EE-A29E-06 COSM3522348 c.1077C>T p.F359F Substitution - coding silent 17:75876025-75876025 - RKO COSM4614812 c.1158_1159insG p.P387fs*16 Insertion - Frameshift 17:75875943-75875944 - 35M COSM5582854 c.1762T>C p.S588P Substitution - Missense 17:75874638-75874638 - LS180 COSM2742380 c.1087T>C p.S363P Substitution - Missense 17:75876015-75876015 - TCGA-DM-A1HB-01 COSM5167966 c.1312_1314delGAC p.D438delD Deletion - In frame 17:75875086-75875088 - TCGA-BG-A0MG-01 COSM984508 c.1467C>T p.I489I Substitution - coding silent 17:75874933-75874933 - 113105 COSM95408 c.1033G>A p.D345N Substitution - Missense 17:75876069-75876069 - T3503 COSM1230347 c.1741C>T p.R581C Substitution - Missense 17:75874659-75874659 - WA56 COSM242045 c.1031A>G p.E344G Substitution - Missense 17:75876071-75876071 - 2492730 COSM5728809 c.254C>T p.P85L Substitution - Missense 17:75878295-75878295 - LUAD_E00522 COSM352681 c.1272C>G p.L424L Substitution - coding silent 17:75875404-75875404 - N701T COSM236600 c.967C>A p.Q323K Substitution - Missense 17:75876297-75876297 - 2492701 COSM5600721 c.1695G>A p.R565R Substitution - coding silent 17:75874705-75874705 - TCGA-QG-A5Z2-01 COSM5187302 c.1648G>C p.V550L Substitution - Missense 17:75874752-75874752 - TCGA-BS-A0UF-01 COSM984507 c.1556C>T p.S519F Substitution - Missense 17:75874844-75874844 - HT55 COSM2742376 c.1220A>C p.D407A Substitution - Missense 17:75875456-75875456 - T207 COSM4736122 c.1390C>T p.R464C Substitution - Missense 17:75875010-75875010 - sysucc-834T COSM1386070 c.1857C>T p.D619D Substitution - coding silent 17:75874543-75874543 - 587342 COSM984506 c.1717C>T p.R573W Substitution - Missense 17:75874683-75874683 - Pat_41_B COSM5853509 c.1354G>A p.V452M Substitution - Missense 17:75875046-75875046 - TCGA-D8-A27G-01 COSM3820585 c.957G>C p.Q319H Substitution - Missense 17:75876307-75876307 - HN_63080 COSM129901 c.1225G>A p.E409K Substitution - Missense 17:75875451-75875451 - PCSI_0009_Pa_X COSM3378322 c.1899C>G p.S633S Substitution - coding silent 17:75874501-75874501 - TCGA-18-3409-01 COSM707185 c.1733C>T p.S578F Substitution - Missense 17:75874667-75874667 - cSCCP7 COSM140156 c.1669C>T p.R557C Substitution - Missense 17:75874731-75874731 - T3724 COSM4736121 c.1648G>A p.V550I Substitution - Missense 17:75874752-75874752 - TCGA-AD-5900-01 COSM140156 c.1669C>T p.R557C Substitution - Missense 17:75874731-75874731 - LS174T COSM2742380 c.1087T>C p.S363P Substitution - Missense 17:75876015-75876015 - 18T COSM3712573 c.1827C>T p.L609L Substitution - coding silent 17:75874573-75874573 - DLD1 COSM1680094 c.835C>T p.Q279* Substitution - Nonsense 17:75876429-75876429 - CRC-1 COSM304702 c.1201+2T>G p.? Unknown 17:75875899-75875899 - HCC107 COSM1610786 c.327G>A p.P109P Substitution - coding silent 17:75878222-75878222 - UD-SCC-2 COSM4271326 c.1010T>C p.L337P Substitution - Missense 17:75876092-75876092 - TCGA-EE-A183-06 COSM3522347 c.1509C>T p.S503S Substitution - coding silent 17:75874891-75874891 - OSCC-GB_00180111 COSM3712573 c.1827C>T p.L609L Substitution - coding silent 17:75874573-75874573 - TCGA-D1-A103-01 COSM984506 c.1717C>T p.R573W Substitution - Missense 17:75874683-75874683 - TCGA-AA-3713-01 COSM5106122 c.1273A>G p.K425E Substitution - Missense 17:75875403-75875403 - TCGA-CG-5721-01 COSM4069714 c.1248T>C p.S416S Substitution - coding silent 17:75875428-75875428 - Ramos COSM1159834 c.1869G>A p.Q623Q Substitution - coding silent 17:75874531-75874531 - SC_9009 COSM5567496 c.485G>T p.S162I Substitution - Missense 17:75878064-75878064 - TCGA-18-3421-01 COSM707186 c.1735C>T p.R579W Substitution - Missense 17:75874665-75874665 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.293660 17q25 611041

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.F561L c.1681T>C 17 73870800 ESCA C A Missense p.G625W c.1873G>T 17 73870608 LUAD C A Nonsense p.E485* c.1453G>T 17 73871028 HNSC C A Synonymous p.A602A c.1806G>T 17 73870675 STAD C T Missense p.A368T c.1102G>A 17 73872081 NB C T Missense p.D328N c.982G>A 17 73872363 BLCA C T Missense p.D402N c.1204G>A 17 73871553 LUSC C T Missense p.E290K c.868G>A 17 73872477 CM C T Missense p.E409K c.1225G>A 17 73871532 HNSC G A Missense p.R579W c.1735C>T 17 73870746 LUSC G A Missense p.R596C c.1786C>T 17 73870695 LUAD G A Missense p.R596C c.1786C>T 17 73870695 UCEC G A Synonymous p.C377C c.1131C>T 17 73872052 OV G A Synonymous p.I489I c.1467C>T 17 73871014 UCEC G A Synonymous p.S503S c.1509C>T 17 73870972 CM G A Synonymous p.S519S c.1557C>T 17 73870924 LUSC G C Missense p.T411R c.1232C>G 17 73871525 BRCA G T Missense p.L343M c.1027C>A 17 73872156 BRCA T A Missense p.E417D c.1251A>T 17 73871506 STAD T G Synonymous p.L339L c.1017A>C 17 73872166 BRCA