Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 17 40010049 40010049 + Missense_Mutation SNP C C G TCGA-K4-A54R-01A-11D-A26M-08 TCGA-K4-A54R-10A-01D-A26K-08 g.chr17:40010049C>G c.2070G>C c.(2068-2070)gaG>gaC p.E690D BLCA 17 40010379 40010379 + Silent SNP A A T TCGA-XF-A9T0-01A-11D-A391-08 TCGA-XF-A9T0-10A-01D-A394-08 g.chr17:40010379A>T c.1740T>A c.(1738-1740)atT>atA p.I580I BLCA 17 40010531 40010531 + Missense_Mutation SNP C C T TCGA-K4-A54R-01A-11D-A26M-08 TCGA-K4-A54R-10A-01D-A26K-08 g.chr17:40010531C>T c.1588G>A c.(1588-1590)Gag>Aag p.E530K BLCA 17 40010621 40010621 + Nonsense_Mutation SNP C C A TCGA-E7-A7DV-01A-11D-A339-08 TCGA-E7-A7DV-10A-01D-A339-08 g.chr17:40010621C>A c.1498G>T c.(1498-1500)Gaa>Taa p.E500* BLCA 17 40010829 40010829 + Missense_Mutation SNP C C G TCGA-XF-A9T5-01A-11D-A42E-08 TCGA-XF-A9T5-10A-01D-A42H-08 g.chr17:40010829C>G c.1290G>C c.(1288-1290)ttG>ttC p.L430F BLCA 17 40011119 40011119 + Missense_Mutation SNP C C G TCGA-K4-A54R-01A-11D-A26M-08 TCGA-K4-A54R-10A-01D-A26K-08 g.chr17:40011119C>G c.1000G>C c.(1000-1002)Gag>Cag p.E334Q BLCA 17 40011329 40011329 + Nonsense_Mutation SNP C C A TCGA-K4-A54R-01A-11D-A26M-08 TCGA-K4-A54R-10A-01D-A26K-08 g.chr17:40011329C>A c.790G>T c.(790-792)Gag>Tag p.E264* BLCA 17 40011358 40011358 + Nonsense_Mutation SNP G G C TCGA-K4-A5RJ-01A-11D-A289-08 TCGA-K4-A5RJ-10A-01D-A289-08 g.chr17:40011358G>C c.761C>G c.(760-762)tCa>tGa p.S254* BLCA 17 40011443 40011443 + Missense_Mutation SNP C C G TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 g.chr17:40011443C>G c.676G>C c.(676-678)Gat>Cat p.D226H BLCA 17 40011453 40011453 + Silent SNP C C T TCGA-K4-A54R-01A-11D-A26M-08 TCGA-K4-A54R-10A-01D-A26K-08 g.chr17:40011453C>T c.666G>A c.(664-666)ctG>ctA p.L222L BLCA 17 40021101 40021101 + Missense_Mutation SNP C C T TCGA-XF-A9T0-01A-11D-A391-08 TCGA-XF-A9T0-10A-01D-A394-08 g.chr17:40021101C>T c.523G>A c.(523-525)Gag>Aag p.E175K BLCA 17 40021195 40021195 + Nonsense_Mutation SNP C C T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 g.chr17:40021195C>T c.429G>A c.(427-429)tgG>tgA p.W143* BLCA 17 40021286 40021286 + Missense_Mutation SNP G G A TCGA-FD-A6TD-01A-51D-A339-08 TCGA-FD-A6TD-10A-21D-A339-08 g.chr17:40021286G>A c.338C>T c.(337-339)tCg>tTg p.S113L BLCA 17 40021502 40021502 + Missense_Mutation SNP C C G TCGA-4Z-AA7W-01A-11D-A391-08 TCGA-4Z-AA7W-10A-01D-A394-08 g.chr17:40021502C>G c.122G>C c.(121-123)cGa>cCa p.R41P BRCA 17 40021290 40021290 + Missense_Mutation SNP G G A TCGA-A2-A0SY-01A-31D-A099-09 TCGA-A2-A0SY-10A-01D-A099-09 g.chr17:40021290G>A c.334C>T c.(334-336)Cgc>Tgc p.R112C CESC 17 40010025 40010025 + Missense_Mutation SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 g.chr17:40010025C>T c.2094G>A c.(2092-2094)atG>atA p.M698I CESC 17 40010275 40010275 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 g.chr17:40010275C>G c.1844G>C c.(1843-1845)gGa>gCa p.G615A CHOL 17 40010293 40010293 + Missense_Mutation SNP T T C TCGA-W5-AA2I-01A-32D-A417-09 TCGA-W5-AA2I-10A-01D-A41A-09 g.chr17:40010293T>C c.1826A>G c.(1825-1827)gAt>gGt p.D609G COAD 17 40010128 40010128 + Missense_Mutation SNP C C T TCGA-AZ-6608-01A-11D-1835-10 TCGA-AZ-6608-11A-01D-1835-10 g.chr17:40010128C>T c.1991G>A c.(1990-1992)cGg>cAg p.R664Q COAD 17 40010578 40010578 + Missense_Mutation SNP C C T TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr17:40010578C>T c.1541G>A c.(1540-1542)cGg>cAg p.R514Q COAD 17 40010658 40010658 + Silent SNP T T G TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chr17:40010658T>G c.1461A>C c.(1459-1461)gcA>gcC p.A487A COAD 17 40011269 40011270 + Frame_Shift_Ins INS - - TC TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chr17:40011269_40011270insTC c.849_850insGA c.(847-852)agatacfs p.Y284fs COAD 17 40011506 40011506 + Missense_Mutation SNP A A C TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr17:40011506A>C c.613T>G c.(613-615)Tgt>Ggt p.C205G COADREAD 17 40010128 40010128 + Missense_Mutation SNP C C T TCGA-AZ-6608-01A-11D-1835-10 TCGA-AZ-6608-11A-01D-1835-10 g.chr17:40010128C>T c.1991G>A c.(1990-1992)cGg>cAg p.R664Q COADREAD 17 40010578 40010578 + Missense_Mutation SNP C C T TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr17:40010578C>T c.1541G>A c.(1540-1542)cGg>cAg p.R514Q COADREAD 17 40010658 40010658 + Silent SNP T T G TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chr17:40010658T>G c.1461A>C c.(1459-1461)gcA>gcC p.A487A COADREAD 17 40011144 40011144 + Silent SNP T T G TCGA-AG-3885-01A-01W-0899-10 TCGA-AG-3885-10A-01W-0901-10 g.chr17:40011144T>G c.975A>C c.(973-975)gcA>gcC p.A325A COADREAD 17 40011269 40011270 + Frame_Shift_Ins INS - - TC TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chr17:40011269_40011270insTC c.849_850insGA c.(847-852)agatacfs p.Y284fs COADREAD 17 40011506 40011506 + Missense_Mutation SNP A A C TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr17:40011506A>C c.613T>G c.(613-615)Tgt>Ggt p.C205G GBM 17 40010614 40010614 + Missense_Mutation SNP C C T TCGA-32-4213-01A-01D-1353-08 TCGA-32-4213-10A-01D-1353-08 g.chr17:40010614C>T c.1505G>A c.(1504-1506)cGg>cAg p.R502Q GBMLGG 17 40010060 40010060 + Nonsense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:40010060G>A c.2059C>T c.(2059-2061)Cag>Tag p.Q687* GBMLGG 17 40010251 40010251 + Missense_Mutation SNP A A C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:40010251A>C c.1868T>G c.(1867-1869)aTt>aGt p.I623S GBMLGG 17 40010614 40010614 + Missense_Mutation SNP C C T TCGA-32-4213-01A-01D-1353-08 TCGA-32-4213-10A-01D-1353-08 g.chr17:40010614C>T c.1505G>A c.(1504-1506)cGg>cAg p.R502Q GBMLGG 17 40011097 40011097 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:40011097C>T c.1022G>A c.(1021-1023)tGc>tAc p.C341Y HNSC 17 40010360 40010360 + Missense_Mutation SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 g.chr17:40010360C>T c.1759G>A c.(1759-1761)Gag>Aag p.E587K HNSC 17 40010890 40010890 + Missense_Mutation SNP T T A TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 g.chr17:40010890T>A c.1229A>T c.(1228-1230)tAt>tTt p.Y410F HNSC 17 40011269 40011270 + Frame_Shift_Ins INS - - TC TCGA-UF-A71D-01A-12D-A34J-08 TCGA-UF-A71D-10B-01D-A34M-08 g.chr17:40011269_40011270insTC c.849_850insGA c.(847-852)agatacfs p.Y284fs HNSC 17 40021170 40021171 + Frame_Shift_Ins INS - - G TCGA-BA-5153-01A-01D-1434-08 TCGA-BA-5153-10A-01D-1434-08 g.chr17:40021170_40021171insG c.453_454insC c.(451-456)cccgacfs p.D152fs HNSC 17 40021244 40021244 + Missense_Mutation SNP G G A TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 g.chr17:40021244G>A c.380C>T c.(379-381)tCg>tTg p.S127L KIPAN 17 40010765 40010765 + Missense_Mutation SNP T T C TCGA-B1-A657-01A-11D-A31X-10 TCGA-B1-A657-10A-01D-A31X-10 g.chr17:40010765T>C c.1354A>G c.(1354-1356)Aaa>Gaa p.K452E KIPAN 17 40011371 40011371 + Missense_Mutation SNP T T C TCGA-P4-A5E6-01A-11D-A28G-10 TCGA-P4-A5E6-11A-22D-A28G-10 g.chr17:40011371T>C c.748A>G c.(748-750)Aga>Gga p.R250G KIRP 17 40010765 40010765 + Missense_Mutation SNP T T C TCGA-B1-A657-01A-11D-A31X-10 TCGA-B1-A657-10A-01D-A31X-10 g.chr17:40010765T>C c.1354A>G c.(1354-1356)Aaa>Gaa p.K452E KIRP 17 40011371 40011371 + Missense_Mutation SNP T T C TCGA-P4-A5E6-01A-11D-A28G-10 TCGA-P4-A5E6-11A-22D-A28G-10 g.chr17:40011371T>C c.748A>G c.(748-750)Aga>Gga p.R250G LGG 17 40010060 40010060 + Nonsense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:40010060G>A c.2059C>T c.(2059-2061)Cag>Tag p.Q687* LGG 17 40010251 40010251 + Missense_Mutation SNP A A C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:40010251A>C c.1868T>G c.(1867-1869)aTt>aGt p.I623S LGG 17 40011097 40011097 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:40011097C>T c.1022G>A c.(1021-1023)tGc>tAc p.C341Y LIHC 17 40010298 40010298 + Silent SNP G G A TCGA-CC-A3MB-01A-11D-A20W-10 TCGA-CC-A3MB-10A-01D-A20W-10 g.chr17:40010298G>A c.1821C>T c.(1819-1821)taC>taT p.Y607Y LIHC 17 40010438 40010438 + Missense_Mutation SNP T T C TCGA-UB-A7MD-01A-12D-A34Z-10 TCGA-UB-A7MD-10A-01D-A34Z-10 g.chr17:40010438T>C c.1681A>G c.(1681-1683)Aca>Gca p.T561A LIHC 17 40010740 40010740 + Missense_Mutation SNP C C T TCGA-BC-A112-01A-11D-A12Z-10 TCGA-BC-A112-11A-11D-A12Z-10 g.chr17:40010740C>T c.1379G>A c.(1378-1380)gGa>gAa p.G460E LIHC 17 40021606 40021606 + Silent SNP C C T TCGA-2Y-A9H8-01A-11D-A38X-10 TCGA-2Y-A9H8-10A-01D-A38X-10 g.chr17:40021606C>T c.18G>A c.(16-18)gtG>gtA p.V6V LUAD 17 40010662 40010662 + Missense_Mutation SNP G G A TCGA-05-4384-01A-01D-1753-08 TCGA-05-4384-10A-01D-1753-08 g.chr17:40010662G>A c.1457C>T c.(1456-1458)tCg>tTg p.S486L LUAD 17 40010890 40010890 + Missense_Mutation SNP T T C TCGA-95-7039-01A-11D-1945-08 TCGA-95-7039-10A-01D-1946-08 g.chr17:40010890T>C c.1229A>G c.(1228-1230)tAt>tGt p.Y410C LUAD 17 40010906 40010906 + Missense_Mutation SNP T T C TCGA-78-8662-01A-11D-2393-08 TCGA-78-8662-10A-01D-2393-08 g.chr17:40010906T>C c.1213A>G c.(1213-1215)Aca>Gca p.T405A LUAD 17 40011242 40011242 + Missense_Mutation SNP T T A TCGA-69-7979-01A-11D-2184-08 TCGA-69-7979-10A-01D-2184-08 g.chr17:40011242T>A c.877A>T c.(877-879)Agg>Tgg p.R293W LUAD 17 40021265 40021265 + Missense_Mutation SNP T T A TCGA-55-7728-01A-11D-2184-08 TCGA-55-7728-10A-01D-2184-08 g.chr17:40021265T>A c.359A>T c.(358-360)gAg>gTg p.E120V LUAD 17 40021372 40021372 + Silent SNP C C T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 g.chr17:40021372C>T c.252G>A c.(250-252)caG>caA p.Q84Q LUSC 17 40011341 40011341 + Missense_Mutation SNP C C G TCGA-43-6771-01A-11D-1817-08 TCGA-43-6771-11A-01D-1817-08 g.chr17:40011341C>G c.778G>C c.(778-780)Gtt>Ctt p.V260L LUSC 17 40021156 40021156 + Silent SNP G G T TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 g.chr17:40021156G>T c.468C>A c.(466-468)gcC>gcA p.A156A LUSC 17 40021343 40021343 + Missense_Mutation SNP C C T TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 g.chr17:40021343C>T c.281G>A c.(280-282)tGc>tAc p.C94Y LUSC 17 40021526 40021526 + Missense_Mutation SNP G G A TCGA-18-5592-01A-01D-1632-08 TCGA-18-5592-11A-11D-1632-08 g.chr17:40021526G>A c.98C>T c.(97-99)tCg>tTg p.S33L OV 17 40010777 40010777 + Missense_Mutation SNP G G C TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 g.chr17:40010777G>C c.1342C>G c.(1342-1344)Cta>Gta p.L448V PAAD 17 40010103 40010103 + Silent SNP G G A TCGA-HZ-7918-01A-11D-2154-08 TCGA-HZ-7918-10A-01D-2154-08 g.chr17:40010103G>A c.2016C>T c.(2014-2016)taC>taT p.Y672Y PAAD 17 40010534 40010534 + Missense_Mutation SNP T T C TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr17:40010534T>C c.1585A>G c.(1585-1587)Aca>Gca p.T529A PAAD 17 40011445 40011445 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr17:40011445G>A c.674C>T c.(673-675)gCt>gTt p.A225V PRAD 17 40010842 40010842 + Missense_Mutation SNP T T C TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr17:40010842T>C c.1277A>G c.(1276-1278)tAt>tGt p.Y426C READ 17 40011144 40011144 + Silent SNP T T G TCGA-AG-3885-01A-01W-0899-10 TCGA-AG-3885-10A-01W-0901-10 g.chr17:40011144T>G c.975A>C c.(973-975)gcA>gcC p.A325A SARC 17 40011164 40011164 + Missense_Mutation SNP C C G TCGA-HB-A5W3-01A-11D-A29N-09 TCGA-HB-A5W3-10A-01D-A29N-09 g.chr17:40011164C>G c.955G>C c.(955-957)Gtc>Ctc p.V319L SARC 17 40011503 40011503 + Missense_Mutation SNP C C T TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 g.chr17:40011503C>T c.616G>A c.(616-618)Gtg>Atg p.V206M SKCM 17 40010189 40010189 + Missense_Mutation SNP G G A TCGA-EE-A2A5-06A-11D-A197-08 TCGA-EE-A2A5-10A-01D-A199-08 g.chr17:40010189G>A c.1930C>T c.(1930-1932)Ctt>Ttt p.L644F SKCM 17 40010209 40010209 + Missense_Mutation SNP T T A TCGA-ER-A197-06A-32D-A197-08 TCGA-ER-A197-10A-01D-A199-08 g.chr17:40010209T>A c.1910A>T c.(1909-1911)gAg>gTg p.E637V SKCM 17 40010862 40010862 + Silent SNP A A G TCGA-EE-A2M5-06A-12D-A197-08 TCGA-EE-A2M5-10A-01D-A199-08 g.chr17:40010862A>G c.1257T>C c.(1255-1257)ttT>ttC p.F419F SKCM 17 40011029 40011029 + Missense_Mutation SNP T T A TCGA-FS-A1ZA-06A-11D-A197-08 TCGA-FS-A1ZA-10A-01D-A199-08 g.chr17:40011029T>A c.1090A>T c.(1090-1092)Att>Ttt p.I364F SKCM 17 40011334 40011334 + Missense_Mutation SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr17:40011334G>A c.785C>T c.(784-786)tCt>tTt p.S262F

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 17 40010351 40010351 single base substitution C T missense_variant E590K 1768G>A BLCA-CN 17 40010363 40010363 single base substitution C T missense_variant D586N 1756G>A BLCA-CN 17 40010876 40010876 single base substitution T C missense_variant M415V 1243A>G BLCA-CN 17 40021117 40021117 single base substitution G A synonymous_variant S169S 507C>T BLCA-US 17 40011443 40011443 single base substitution C G missense_variant D226H 676G>C BLCA-US 17 40021195 40021195 single base substitution C T stop_gained W143* 429G>A BLCA-US 17 40025364 40025364 single base substitution G C upstream_gene_variant BLCA-US 17 40025748 40025748 single base substitution T A upstream_gene_variant BRCA-EU 17 40006263 40006263 single base substitution T A downstream_gene_variant BRCA-EU 17 40006534 40006534 single base substitution G C downstream_gene_variant BRCA-EU 17 40007111 40007111 single base substitution G C downstream_gene_variant BRCA-EU 17 40007803 40007803 single base substitution G A downstream_gene_variant BRCA-EU 17 40008234 40008234 single base substitution G A downstream_gene_variant BRCA-EU 17 40008815 40008815 single base substitution G A downstream_gene_variant BRCA-EU 17 40009388 40009388 single base substitution G C downstream_gene_variant BRCA-EU 17 40009771 40009774 deletion of <=200bp ACAA - downstream_gene_variant BRCA-EU 17 40011358 40011358 single base substitution G A missense_variant S254L 761C>T BRCA-EU 17 40012242 40012242 single base substitution C G intron_variant BRCA-EU 17 40012568 40012568 insertion of <=200bp - T intron_variant BRCA-EU 17 40012920 40012920 single base substitution G A intron_variant BRCA-EU 17 40013171 40013171 single base substitution C T intron_variant BRCA-EU 17 40014065 40014065 single base substitution G A intron_variant BRCA-EU 17 40016247 40016247 single base substitution G C intron_variant BRCA-EU 17 40017177 40017177 single base substitution G A intron_variant BRCA-EU 17 40018414 40018414 single base substitution C T intron_variant BRCA-EU 17 40018556 40018556 single base substitution C T intron_variant BRCA-EU 17 40018727 40018727 single base substitution G A intron_variant BRCA-EU 17 40019701 40019701 single base substitution G C intron_variant BRCA-EU 17 40019869 40019869 single base substitution C A intron_variant BRCA-EU 17 40019919 40019919 single base substitution C T intron_variant BRCA-EU 17 40020059 40020059 single base substitution C A intron_variant BRCA-EU 17 40022137 40022137 single base substitution T G upstream_gene_variant BRCA-EU 17 40022898 40022898 single base substitution T C upstream_gene_variant BRCA-EU 17 40023863 40023863 deletion of <=200bp A - upstream_gene_variant BRCA-EU 17 40024925 40024925 deletion of <=200bp A - upstream_gene_variant BRCA-EU 17 40025075 40025075 single base substitution A C upstream_gene_variant BRCA-EU 17 40025433 40025433 single base substitution T G upstream_gene_variant BRCA-EU 17 40025808 40025808 single base substitution G C upstream_gene_variant BRCA-FR 17 40012920 40012920 single base substitution G A intron_variant BRCA-FR 17 40016247 40016247 single base substitution G C intron_variant BRCA-FR 17 40025433 40025433 single base substitution T G upstream_gene_variant BRCA-UK 17 40010041 40010041 single base substitution C G missense_variant R693P 2078G>C BRCA-UK 17 40010604 40010604 single base substitution G A synonymous_variant Y505Y 1515C>T BRCA-UK 17 40011518 40011518 single base substitution G A missense_variant H201Y 601C>T BRCA-UK 17 40020567 40020567 single base substitution C T intron_variant BRCA-UK 17 40023106 40023106 single base substitution C T upstream_gene_variant BRCA-UK 17 40023645 40023645 single base substitution T G upstream_gene_variant BRCA-US 17 40021290 40021290 single base substitution G A missense_variant R112C 334C>T BRCA-US 17 40025782 40025782 single base substitution G A upstream_gene_variant BTCA-JP 17 40021170 40021170 single base substitution C A missense_variant D152Y 454G>T BTCA-JP 17 40025228 40025228 single base substitution T G upstream_gene_variant CESC-US 17 40010025 40010025 single base substitution C T missense_variant M698I 2094G>A CESC-US 17 40010275 40010275 single base substitution C G missense_variant G615A 1844G>C CESC-US 17 40025361 40025361 single base substitution C T upstream_gene_variant CLLE-ES 17 40025192 40025192 single base substitution T C upstream_gene_variant COAD-US 17 40010578 40010578 single base substitution C T missense_variant R514Q 1541G>A COAD-US 17 40011260 40011260 single base substitution C T missense_variant E287K 859G>A COAD-US 17 40011269 40011269 insertion of <=200bp - TC frameshift_variant Y284*? COAD-US 17 40011270 40011271 deletion of <=200bp TC - frameshift_variant R283 COAD-US 17 40024073 40024073 single base substitution A G upstream_gene_variant COAD-US 17 40025824 40025824 single base substitution A G upstream_gene_variant COCA-CN 17 40010415 40010415 single base substitution A C missense_variant S568R 1704T>G COCA-CN 17 40010416 40010416 single base substitution C G missense_variant S568T 1703G>C COCA-CN 17 40010645 40010645 single base substitution G A stop_gained R492* 1474C>T COCA-CN 17 40024183 40024183 single base substitution T G upstream_gene_variant COCA-CN 17 40024869 40024869 single base substitution G A upstream_gene_variant COCA-CN 17 40025014 40025014 single base substitution G A upstream_gene_variant COCA-CN 17 40025804 40025804 single base substitution C A upstream_gene_variant ESAD-UK 17 40007088 40007088 single base substitution C G downstream_gene_variant ESAD-UK 17 40007493 40007495 deletion of <=200bp AAC - downstream_gene_variant ESAD-UK 17 40010172 40010172 single base substitution T C synonymous_variant Q649Q 1947A>G ESAD-UK 17 40012608 40012608 single base substitution G A intron_variant ESAD-UK 17 40016723 40016723 single base substitution G A intron_variant ESAD-UK 17 40017617 40017617 single base substitution A G intron_variant ESAD-UK 17 40018755 40018755 single base substitution G A intron_variant ESAD-UK 17 40019728 40019728 single base substitution C T intron_variant ESAD-UK 17 40025582 40025582 single base substitution C G upstream_gene_variant ESCA-CN 17 40010221 40010221 single base substitution C T missense_variant R633Q 1898G>A GBM-US 17 40010614 40010614 single base substitution C T missense_variant R502Q 1505G>A KIRP-US 17 40010765 40010765 single base substitution T C missense_variant K452E 1354A>G KIRP-US 17 40010766 40010766 single base substitution G T synonymous_variant V451V 1353C>A KIRP-US 17 40011371 40011371 single base substitution T C missense_variant R250G 748A>G KIRP-US 17 40021223 40021223 single base substitution C T missense_variant R134H 401G>A KIRP-US 17 40025023 40025023 single base substitution T C upstream_gene_variant LAML-KR 17 40012099 40012099 single base substitution C T intron_variant LAML-KR 17 40012355 40012355 single base substitution T G intron_variant LAML-KR 17 40024879 40024879 single base substitution G A upstream_gene_variant LICA-CN 17 40011230 40011230 single base substitution T G missense_variant M297L 889A>C LICA-CN 17 40021200 40021200 single base substitution T A stop_gained K142* 424A>T LICA-CN 17 40021439 40021439 single base substitution C A missense_variant G62V 185G>T LICA-FR 17 40016661 40016661 single base substitution T G intron_variant LICA-FR 17 40017768 40017768 single base substitution T C intron_variant LICA-FR 17 40021440 40021440 single base substitution C A missense_variant G62C 184G>T LICA-FR 17 40021447 40021447 single base substitution C T synonymous_variant A59A 177G>A LIHC-US 17 40010298 40010298 single base substitution G A synonymous_variant Y607Y 1821C>T LIHC-US 17 40010438 40010438 single base substitution T C missense_variant T561A 1681A>G LIHC-US 17 40010740 40010740 single base substitution C T missense_variant G460E 1379G>A LIHC-US 17 40024989 40024989 single base substitution C T upstream_gene_variant LINC-JP 17 40010218 40010218 single base substitution T C missense_variant Y634C 1901A>G LINC-JP 17 40010555 40010555 deletion of <=200bp C - frameshift_variant A522 LINC-JP 17 40020616 40020616 single base substitution A G intron_variant LINC-JP 17 40021424 40021424 single base substitution T G missense_variant E67A 200A>C LINC-JP 17 40022032 40022032 single base substitution A T upstream_gene_variant LINC-JP 17 40024296 40024296 single base substitution T C upstream_gene_variant LINC-JP 17 40025779 40025779 single base substitution G A upstream_gene_variant LINC-JP 17 40025780 40025780 single base substitution C A upstream_gene_variant LIRI-JP 17 40004982 40004982 single base substitution C G downstream_gene_variant LIRI-JP 17 40007318 40007318 single base substitution T C downstream_gene_variant LIRI-JP 17 40008496 40008496 single base substitution T G downstream_gene_variant LIRI-JP 17 40009931 40009931 single base substitution C A 3_prime_UTR_variant LIRI-JP 17 40010226 40010226 single base substitution G A synonymous_variant A631A 1893C>T LIRI-JP 17 40015790 40015790 single base substitution G A intron_variant LIRI-JP 17 40016699 40016699 single base substitution A T intron_variant LIRI-JP 17 40017241 40017241 single base substitution T C intron_variant LIRI-JP 17 40022865 40022865 single base substitution G C upstream_gene_variant LIRI-JP 17 40024019 40024019 single base substitution A C upstream_gene_variant LIRI-JP 17 40026012 40026012 single base substitution T A upstream_gene_variant LUSC-KR 17 40010979 40010979 single base substitution G A synonymous_variant Y380Y 1140C>T LUSC-KR 17 40012355 40012355 single base substitution T G intron_variant LUSC-KR 17 40014919 40014919 single base substitution C T intron_variant LUSC-KR 17 40021022 40021022 single base substitution G A intron_variant LUSC-KR 17 40022307 40022307 single base substitution T G upstream_gene_variant LUSC-KR 17 40024869 40024869 single base substitution G A upstream_gene_variant LUSC-KR 17 40024873 40024873 single base substitution G A upstream_gene_variant LUSC-KR 17 40024879 40024879 single base substitution G A upstream_gene_variant LUSC-KR 17 40025264 40025264 single base substitution G T upstream_gene_variant LUSC-KR 17 40025453 40025453 single base substitution T C upstream_gene_variant LUSC-KR 17 40025670 40025670 single base substitution G A upstream_gene_variant LUSC-KR 17 40026208 40026208 single base substitution G A upstream_gene_variant LUSC-US 17 40011341 40011341 single base substitution C G missense_variant V260L 778G>C LUSC-US 17 40021156 40021156 single base substitution G T synonymous_variant A156A 468C>A LUSC-US 17 40021343 40021343 single base substitution C T missense_variant C94Y 281G>A LUSC-US 17 40021526 40021526 single base substitution G A missense_variant S33L 98C>T MALY-DE 17 40005551 40005551 single base substitution A G downstream_gene_variant MALY-DE 17 40006174 40006177 deletion of <=200bp TCTT - downstream_gene_variant MALY-DE 17 40010020 40010020 single base substitution C T missense_variant R700Q 2099G>A MALY-DE 17 40013774 40013774 single base substitution G C intron_variant MELA-AU 17 40005521 40005521 single base substitution A C downstream_gene_variant MELA-AU 17 40005560 40005560 single base substitution C T downstream_gene_variant MELA-AU 17 40005877 40005877 single base substitution G A downstream_gene_variant MELA-AU 17 40007230 40007230 single base substitution T G downstream_gene_variant MELA-AU 17 40007501 40007501 single base substitution C T downstream_gene_variant MELA-AU 17 40007539 40007539 single base substitution C T downstream_gene_variant MELA-AU 17 40009103 40009103 single base substitution G A downstream_gene_variant MELA-AU 17 40009440 40009440 single base substitution T A downstream_gene_variant MELA-AU 17 40009881 40009882 deletion of <=200bp AT - 3_prime_UTR_variant MELA-AU 17 40010662 40010662 single base substitution G A missense_variant S486L 1457C>T MELA-AU 17 40010862 40010862 single base substitution A G synonymous_variant F419F 1257T>C MELA-AU 17 40010903 40010903 single base substitution C T missense_variant E406K 1216G>A MELA-AU 17 40010931 40010931 single base substitution G A synonymous_variant H396H 1188C>T MELA-AU 17 40011590 40011590 single base substitution G A intron_variant MELA-AU 17 40012665 40012665 single base substitution G A intron_variant MELA-AU 17 40013129 40013129 single base substitution G A intron_variant MELA-AU 17 40014778 40014778 single base substitution G A intron_variant MELA-AU 17 40014820 40014820 single base substitution G A intron_variant MELA-AU 17 40014874 40014874 single base substitution C A intron_variant MELA-AU 17 40014885 40014885 single base substitution C T intron_variant MELA-AU 17 40015161 40015161 single base substitution G A intron_variant MELA-AU 17 40015768 40015768 single base substitution G A intron_variant MELA-AU 17 40016865 40016865 single base substitution T A intron_variant MELA-AU 17 40017925 40017925 single base substitution G A intron_variant MELA-AU 17 40019419 40019419 single base substitution C T intron_variant MELA-AU 17 40019752 40019752 single base substitution A G intron_variant MELA-AU 17 40020083 40020083 single base substitution C T intron_variant MELA-AU 17 40020984 40020984 single base substitution G A intron_variant MELA-AU 17 40021711 40021711 single base substitution C G upstream_gene_variant MELA-AU 17 40021791 40021791 single base substitution C T upstream_gene_variant MELA-AU 17 40022496 40022496 single base substitution G A upstream_gene_variant MELA-AU 17 40022567 40022567 single base substitution G A upstream_gene_variant MELA-AU 17 40023221 40023221 single base substitution G A upstream_gene_variant MELA-AU 17 40023600 40023600 single base substitution G A upstream_gene_variant MELA-AU 17 40024012 40024012 single base substitution T C upstream_gene_variant MELA-AU 17 40024378 40024378 single base substitution G A upstream_gene_variant MELA-AU 17 40024715 40024715 single base substitution G A upstream_gene_variant MELA-AU 17 40024950 40024950 single base substitution G A upstream_gene_variant MELA-AU 17 40025951 40025951 single base substitution G A upstream_gene_variant MELA-AU 17 40026301 40026301 single base substitution G A upstream_gene_variant ORCA-IN 17 40010237 40010237 single base substitution G A missense_variant R628W 1882C>T ORCA-IN 17 40016224 40016224 single base substitution C T intron_variant OV-AU 17 40022888 40022888 single base substitution C T upstream_gene_variant PACA-AU 17 40007550 40007550 single base substitution C G downstream_gene_variant PACA-AU 17 40009046 40009046 single base substitution A G downstream_gene_variant PACA-AU 17 40009974 40009974 single base substitution C T 3_prime_UTR_variant PACA-AU 17 40013593 40013593 single base substitution C T intron_variant PACA-AU 17 40018812 40018812 single base substitution C T intron_variant PACA-AU 17 40025528 40025528 single base substitution C G upstream_gene_variant PACA-CA 17 40005465 40005465 single base substitution T C downstream_gene_variant PACA-CA 17 40006173 40006173 single base substitution C T downstream_gene_variant PACA-CA 17 40007226 40007226 single base substitution C G downstream_gene_variant PACA-CA 17 40008992 40008992 single base substitution G A downstream_gene_variant PACA-CA 17 40011410 40011410 single base substitution G T missense_variant Q237K 709C>A PACA-CA 17 40012522 40012522 single base substitution G A intron_variant PACA-CA 17 40018180 40018180 single base substitution C T intron_variant PACA-CA 17 40020876 40020876 single base substitution G C intron_variant PAEN-IT 17 40011062 40011062 single base substitution G A missense_variant R353C 1057C>T PBCA-DE 17 40013481 40013481 single base substitution G A intron_variant PBCA-DE 17 40014658 40014658 single base substitution T A intron_variant PBCA-DE 17 40014923 40014923 single base substitution T C intron_variant PBCA-DE 17 40015793 40015793 single base substitution A T intron_variant PBCA-DE 17 40017817 40017817 single base substitution A G intron_variant PRAD-UK 17 40010675 40010675 single base substitution G T missense_variant H482N 1444C>A PRAD-UK 17 40019493 40019493 single base substitution G C intron_variant PRAD-US 17 40025296 40025296 single base substitution C A upstream_gene_variant READ-US 17 40011396 40011396 single base substitution A C missense_variant F241L 723T>G READ-US 17 40025799 40025799 single base substitution G A upstream_gene_variant SKCA-BR 17 40008818 40008818 single base substitution G A downstream_gene_variant SKCA-BR 17 40014736 40014736 single base substitution G A intron_variant SKCA-BR 17 40017517 40017517 single base substitution C A intron_variant SKCA-BR 17 40021029 40021029 single base substitution T C intron_variant SKCA-BR 17 40022126 40022126 single base substitution G T upstream_gene_variant SKCA-BR 17 40022339 40022339 single base substitution C T upstream_gene_variant SKCA-BR 17 40022467 40022469 deletion of <=200bp ATT - upstream_gene_variant SKCM-US 17 40010189 40010189 single base substitution G A missense_variant L644F 1930C>T SKCM-US 17 40010209 40010209 single base substitution T A missense_variant E637V 1910A>T SKCM-US 17 40010862 40010862 single base substitution A G synonymous_variant F419F 1257T>C SKCM-US 17 40011029 40011029 single base substitution T A missense_variant I364F 1090A>T SKCM-US 17 40011334 40011334 single base substitution G A missense_variant S262F 785C>T SKCM-US 17 40025766 40025766 single base substitution G A upstream_gene_variant STAD-US 17 40010212 40010212 single base substitution G A missense_variant A636V 1907C>T STAD-US 17 40010508 40010508 single base substitution C T synonymous_variant V537V 1611G>A STAD-US 17 40010749 40010749 single base substitution C T missense_variant S457N 1370G>A STAD-US 17 40011390 40011390 single base substitution C T synonymous_variant T243T 729G>A THCA-SA 17 40009955 40009955 single base substitution C T 3_prime_UTR_variant THCA-US 17 40024146 40024146 single base substitution C A upstream_gene_variant UCEC-US 17 40010042 40010042 single base substitution G A missense_variant R693C 2077C>T UCEC-US 17 40010662 40010662 single base substitution G A missense_variant S486L 1457C>T UCEC-US 17 40010739 40010739 single base substitution T C synonymous_variant G460G 1380A>G UCEC-US 17 40010785 40010785 single base substitution G T missense_variant S445Y 1334C>A UCEC-US 17 40011489 40011489 single base substitution G A synonymous_variant S210S 630C>T UCEC-US 17 40024082 40024082 single base substitution G A upstream_gene_variant UCEC-US 17 40024153 40024153 single base substitution G A upstream_gene_variant UCEC-US 17 40024982 40024982 single base substitution C T upstream_gene_variant UCEC-US 17 40025305 40025305 single base substitution G A upstream_gene_variant UCEC-US 17 40025332 40025332 single base substitution A C upstream_gene_variant UCEC-US 17 40025730 40025730 single base substitution C T upstream_gene_variant UCEC-US 17 40025822 40025822 single base substitution G A upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-CG-5728-01 COSM4066468 c.729G>A p.T243T Substitution - coding silent 17:41855138-41855138 - 18T COSM3712501 c.1882C>T p.R628W Substitution - Missense 17:41853985-41853985 - TCGA-B5-A11N-01 COSM979354 c.1334C>A p.S445Y Substitution - Missense 17:41854533-41854533 - 313 COSM1742002 c.761C>T p.S254L Substitution - Missense 17:41855106-41855106 - CH-103-T2 COSM5650495 c.1724A>G p.E575G Substitution - Missense 17:41854143-41854143 - PCSI0048 COSM216394 c.709C>A p.Q237K Substitution - Missense 17:41855158-41855158 - OV203PT COSM253265 c.639C>A p.H213Q Substitution - Missense 17:41855228-41855228 - 2492726 COSM5725092 c.1648C>T p.Q550* Substitution - Nonsense 17:41854219-41854219 - HCT-116 COSM1679811 c.287T>C p.I96T Substitution - Missense 17:41865084-41865084 - HCC033T COSM5817928 c.424A>T p.K142* Substitution - Nonsense 17:41864947-41864947 - TCGA-BS-A0UF-01 COSM560740 c.1457C>T p.S486L Substitution - Missense 17:41854410-41854410 - PD4084a COSM162019 c.1515C>T p.Y505Y Substitution - coding silent 17:41854352-41854352 - B21-Tumor COSM1750036 c.1756G>A p.D586N Substitution - Missense 17:41854111-41854111 - CHC2115T COSM4793445 c.177G>A p.A59A Substitution - coding silent 17:41865194-41865194 - B105-0 COSM1750038 c.507C>T p.S169S Substitution - coding silent 17:41864864-41864864 - SNU-175 COSM240425 c.2051G>A p.R684H Substitution - Missense 17:41853816-41853816 - ZZUFHECRKL-G003T COSM5430924 c.1898G>A p.R633Q Substitution - Missense 17:41853969-41853969 - PT08_2 COSM5894636 c.559C>T p.R187C Substitution - Missense 17:41855308-41855308 - H2009 COSM1193690 c.1057C>T p.R353C Substitution - Missense 17:41854810-41854810 - TCGA-23-1032-01 COSM116993 c.2057G>A p.R686K Substitution - Missense 17:41853810-41853810 - YURAY COSM5386369 c.1797C>T p.I599I Substitution - coding silent 17:41854070-41854070 - PT35 COSM5149361 c.1697C>T p.P566L Substitution - Missense 17:41854170-41854170 - T1743 COSM4696445 c.1058G>A p.R353H Substitution - Missense 17:41854809-41854809 - 24 COSM4777547 c.1565C>T p.A522V Substitution - Missense 17:41854302-41854302 - PD12803a COSM3770119 c.1471C>T p.L491F Substitution - Missense 17:41854396-41854396 - 2492724 COSM5725092 c.1648C>T p.Q550* Substitution - Nonsense 17:41854219-41854219 - Pat_15_B COSM5852523 c.2002G>T p.G668C Substitution - Missense 17:41853865-41853865 - TCGA-EI-6917-01 COSM3421565 c.723T>G p.F241L Substitution - Missense 17:41855144-41855144 - 296_T COSM3958373 c.2099G>A p.R700Q Substitution - Missense 17:41853768-41853768 - PD4596a COSM162018 c.2078G>C p.R693P Substitution - Missense 17:41853789-41853789 - PCA17-2 COSM5415462 c.381G>T p.S127S Substitution - coding silent 17:41864990-41864990 - MedB-1 COSM5621130 c.1178T>C p.I393T Substitution - Missense 17:41854689-41854689 - ATL059 COSM5706393 c.451C>G p.P151A Substitution - Missense 17:41864920-41864920 - CSCC-31-T COSM4507181 c.739C>T p.H247Y Substitution - Missense 17:41855128-41855128 - WA16 COSM240425 c.2051G>A p.R684H Substitution - Missense 17:41853816-41853816 - TCGA-HU-A4H8-01 COSM3187963 c.1907C>T p.A636V Substitution - Missense 17:41853960-41853960 - pfg008T COSM1640692 c.1689A>G p.S563S Substitution - coding silent 17:41854178-41854178 - B21 COSM1750035 c.1768G>A p.E590K Substitution - Missense 17:41854099-41854099 - TCGA-66-2800-01 COSM706340 c.468C>A p.A156A Substitution - coding silent 17:41864903-41864903 - B37 COSM1750037 c.1243A>G p.M415V Substitution - Missense 17:41854624-41854624 - HCC118T COSM5813547 c.889A>C p.M297L Substitution - Missense 17:41854978-41854978 - TCGA-43-6771-01 COSM706341 c.778G>C p.V260L Substitution - Missense 17:41855089-41855089 - OSCC-GB_00180111 COSM3712501 c.1882C>T p.R628W Substitution - Missense 17:41853985-41853985 - TCGA-D1-A163-01 COSM979352 c.2077C>T p.R693C Substitution - Missense 17:41853790-41853790 - TCGA-32-4213-01 COSM3402898 c.1505G>A p.R502Q Substitution - Missense 17:41854362-41854362 - ITNET_0900_T COSM1193690 c.1057C>T p.R353C Substitution - Missense 17:41854810-41854810 - PCSI_0048_Pa_P_526 COSM216394 c.709C>A p.Q237K Substitution - Missense 17:41855158-41855158 - CHC1704T COSM4803820 c.184G>T p.G62C Substitution - Missense 17:41865187-41865187 - TCGA-CF-A1HR-01 COSM417531 c.676G>C p.D226H Substitution - Missense 17:41855191-41855191 - TCGA-MH-A561-01 COSM3989024 c.401G>A p.R134H Substitution - Missense 17:41864970-41864970 - Pat_60_A COSM5852524 c.1897C>T p.R633* Substitution - Nonsense 17:41853970-41853970 - CHC1704T COSM4803820 c.184G>T p.G62C Substitution - Missense 17:41865187-41865187 - TCGA-ER-A197-06 COSM3517576 c.1910A>T p.E637V Substitution - Missense 17:41853957-41853957 - B21 COSM1750036 c.1756G>A p.D586N Substitution - Missense 17:41854111-41854111 - T3724 COSM1383264 c.848_849delGA p.R283fs*3 Deletion - Frameshift 17:41855018-41855019 - TCGA-D1-A103-01 COSM979353 c.1380A>G p.G460G Substitution - coding silent 17:41854487-41854487 - HCC94T COSM1610252 c.200A>C p.E67A Substitution - Missense 17:41865171-41865171 - TCGA-EE-A2A5-06 COSM1742001 c.1930C>T p.L644F Substitution - Missense 17:41853937-41853937 - HCC161 COSM3717362 c.1901A>G p.Y634C Substitution - Missense 17:41853966-41853966 - RK310_C01 COSM3701212 c.1893C>T p.A631A Substitution - coding silent 17:41853974-41853974 - 2P3 COSM3733740 c.1048C>A p.L350I Substitution - Missense 17:41854819-41854819 - TCGA-FS-A1ZA-06 COSM3517578 c.1090A>T p.I364F Substitution - Missense 17:41854777-41854777 - TCGA-F1-6177-01 COSM4066466 c.1611G>A p.V537V Substitution - coding silent 17:41854256-41854256 - BD124T COSM5493584 c.454G>T p.D152Y Substitution - Missense 17:41864917-41864917 - TCGA-24-1843-01 COSM1323957 c.1342C>G p.L448V Substitution - Missense 17:41854525-41854525 - ESO-003 COSM1255954 c.1556G>A p.G519E Substitution - Missense 17:41854311-41854311 - SC_9076 COSM5552935 c.523G>A p.E175K Substitution - Missense 17:41864848-41864848 - 2492725 COSM5725092 c.1648C>T p.Q550* Substitution - Nonsense 17:41854219-41854219 - NPC29F COSM4995742 c.1029C>A p.H343Q Substitution - Missense 17:41854838-41854838 - TCGA-AX-A06L-01 COSM979355 c.630C>T p.S210S Substitution - coding silent 17:41855237-41855237 - TCGA-HU-A4GU-01 COSM4066467 c.1370G>A p.S457N Substitution - Missense 17:41854497-41854497 - TCGA-AA-A00N-01 COSM275757 c.613T>G p.C205G Substitution - Missense 17:41855254-41855254 - TCGA-EK-A3GK-01 COSM4853000 c.2094G>A p.M698I Substitution - Missense 17:41853773-41853773 - B105-0-Tumor COSM1750038 c.507C>T p.S169S Substitution - coding silent 17:41864864-41864864 - YUKADI COSM1710293 c.1358G>A p.G453E Substitution - Missense 17:41854509-41854509 - HCC2998 COSM3187983 c.1191C>T p.L397L Substitution - coding silent 17:41854676-41854676 - PD11397a COSM1742002 c.761C>T p.S254L Substitution - Missense 17:41855106-41855106 - Pat_45_B COSM5852525 c.36_38delGGC p.A16delA Deletion - In frame 17:41865333-41865335 - T2225 COSM4696444 c.1458G>A p.S486S Substitution - coding silent 17:41854409-41854409 - B21-Tumor COSM1750035 c.1768G>A p.E590K Substitution - Missense 17:41854099-41854099 - RMS105_ COSM4986194 c.80A>G p.E27G Substitution - Missense 17:41865291-41865291 - HDC90 COSM4637362 c.1448A>T p.N483I Substitution - Missense 17:41854419-41854419 - 900T COSM1193690 c.1057C>T p.R353C Substitution - Missense 17:41854810-41854810 - 19 COSM5747851 c.736T>A p.F246I Substitution - Missense 17:41855131-41855131 - TCGA-BC-A112-01 COSM4936521 c.1379G>A p.G460E Substitution - Missense 17:41854488-41854488 - TCGA-A6-5665-01 COSM1383262 c.1541G>A p.R514Q Substitution - Missense 17:41854326-41854326 - TCGA-D5-6927-01 COSM1383263 c.849_850insGA p.Y284fs*15 Insertion - Frameshift 17:41855017-41855018 - 61 COSM3989023 c.748A>G p.R250G Substitution - Missense 17:41855119-41855119 - TCGA-IR-A3LK-01 COSM4817745 c.1844G>C p.G615A Substitution - Missense 17:41854023-41854023 - ME009T COSM223878 c.1378G>A p.G460R Substitution - Missense 17:41854489-41854489 - TCGA-G4-6295-01 COSM3691564 c.859G>A p.E287K Substitution - Missense 17:41855008-41855008 - HCC159T COSM5806642 c.185G>T p.G62V Substitution - Missense 17:41865186-41865186 - B37-Tumor COSM1750037 c.1243A>G p.M415V Substitution - Missense 17:41854624-41854624 - 526T COSM4382735 c.1249C>T p.P417S Substitution - Missense 17:41854618-41854618 - ESO-003 COSM1255956 c.1498G>A p.E500K Substitution - Missense 17:41854369-41854369 - 71M COSM5595870 c.1586_1587delCA p.T529fs*15 Deletion - Frameshift 17:41854280-41854281 - TCGA-EE-A2MR-06 COSM3517579 c.785C>T p.S262F Substitution - Missense 17:41855082-41855082 - T21 COSM5342937 c.1522G>A p.A508T Substitution - Missense 17:41854345-41854345 - TCGA-18-5592-01 COSM706338 c.98C>T p.S33L Substitution - Missense 17:41865273-41865273 - 313 COSM1742001 c.1930C>T p.L644F Substitution - Missense 17:41853937-41853937 - CSCC-60-T COSM4522136 c.1147G>T p.D383Y Substitution - Missense 17:41854720-41854720 - TCGA-UB-A7MD-01 COSM4933022 c.1681A>G p.T561A Substitution - Missense 17:41854186-41854186 - CHC2115T COSM4793445 c.177G>A p.A59A Substitution - coding silent 17:41865194-41865194 - 5-RSII COSM1731741 c.1520C>T p.A507V Substitution - Missense 17:41854347-41854347 - TCGA-B1-A657-01 COSM4908185 c.1354A>G p.K452E Substitution - Missense 17:41854513-41854513 - CSCC-32-T COSM4469955 c.162C>T p.I54I Substitution - coding silent 17:41865209-41865209 - HCC161T COSM3717362 c.1901A>G p.Y634C Substitution - Missense 17:41853966-41853966 - MO_1014 COSM5566346 c.1595G>A p.R532Q Substitution - Missense 17:41854272-41854272 - 0006_CRUK_PC_0006_T4_DNA COSM3849563 c.1444C>A p.H482N Substitution - Missense 17:41854423-41854423 - HCC098T COSM5806642 c.185G>T p.G62V Substitution - Missense 17:41865186-41865186 - ESO-003 COSM1255955 c.1552G>T p.D518Y Substitution - Missense 17:41854315-41854315 - DLD1 COSM4623557 c.1253G>T p.G418V Substitution - Missense 17:41854614-41854614 - PD4102a COSM162017 c.601C>T p.H201Y Substitution - Missense 17:41855266-41855266 - HCC94 COSM1610252 c.200A>C p.E67A Substitution - Missense 17:41865171-41865171 - TCGA-33-6737-01 COSM706339 c.281G>A p.C94Y Substitution - Missense 17:41865090-41865090 - TCGA-A2-A0SY-01 COSM436609 c.334C>T p.R112C Substitution - Missense 17:41865037-41865037 - PCSI_0048_Pa_P COSM216394 c.709C>A p.Q237K Substitution - Missense 17:41855158-41855158 - TCGA-DK-A3IN-01 COSM3795610 c.429G>A p.W143* Substitution - Nonsense 17:41864942-41864942 - TCGA-CK-5916-01 COSM1383264 c.848_849delGA p.R283fs*3 Deletion - Frameshift 17:41855018-41855019 - TCGA-EE-A2M5-06 COSM3517577 c.1257T>C p.F419F Substitution - coding silent 17:41854610-41854610 - TCGA-CC-A3MB-01 COSM4933766 c.1821C>T p.Y607Y Substitution - coding silent 17:41854046-41854046 - PT35 COSM5913898 c.1696C>T p.P566S Substitution - Missense 17:41854171-41854171 - MOLT-4 COSM1679810 c.421C>T p.R141C Substitution - Missense 17:41864950-41864950 - TCGA-B1-A657-01 COSM4908172 c.1353C>A p.V451V Substitution - coding silent 17:41854514-41854514 - sysucc-325T COSM5461197 c.1703G>C p.S568T Substitution - Missense 17:41854164-41854164 - TCGA-P4-A5E6-01 COSM3989023 c.748A>G p.R250G Substitution - Missense 17:41855119-41855119 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.592134 17q21.2

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Synonymous p.F419F c.1257T>C 17 40010862 CM C A Missense p.D518Y c.1552G>T 17 40010567 ESCA C A Missense p.R532L c.1595G>T 17 40010524 STAD C G Missense p.D226H c.676G>C 17 40011443 BLCA C G Missense p.R693P c.2078G>C 17 40010041 BRCA C G Missense p.V260L c.778G>C 17 40011341 LUSC C T Missense p.C94Y c.281G>A 17 40021343 LUSC C T Missense p.E500K c.1498G>A 17 40010621 ESCA C T Missense p.G460R c.1378G>A 17 40010741 CM C T Missense p.G519E c.1556G>A 17 40010563 ESCA C T Missense p.R502Q c.1505G>A 17 40010614 GBM C T Missense p.R686K c.2057G>A 17 40010062 OV C T Nonsense p.W143* c.429G>A 17 40021195 BLCA C T Synonymous p.T243T c.729G>A 17 40011390 STAD C T Synonymous p.T28T c.84G>A 17 40021540 CM C T Synonymous p.V537V c.1611G>A 17 40010508 STAD G A Missense p.H201Y c.601C>T 17 40011518 BRCA G A Missense p.L644F c.1930C>T 17 40010189 CM G A Missense p.P476S c.1426C>T 17 40010693 CM G A Missense p.R112C c.334C>T 17 40021290 BRCA G A Missense p.R693C c.2077C>T 17 40010042 UCEC G A Missense p.S33L c.98C>T 17 40021526 LUSC G A Missense p.S486L c.1457C>T 17 40010662 LUAD G A Synonymous p.S210S c.630C>T 17 40011489 UCEC G A Synonymous p.Y505Y c.1515C>T 17 40010604 BRCA G T Missense p.Q237K c.709C>A 17 40011410 PAAD G T Synonymous p.A156A c.468C>A 17 40021156 LUSC T A Missense p.E637V c.1910A>T 17 40010209 CM T A Missense p.I364F c.1090A>T 17 40011029 CM T C Synonymous p.S563S c.1689A>G 17 40010430 STAD