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 47685289 47685289 + Missense_Mutation SNP G G A TCGA-CF-A9FF-01A-11D-A38G-08 TCGA-CF-A9FF-10A-01D-A38J-08 g.chr17:47685289G>A c.661C>T c.(661-663)Cgt>Tgt p.R221C BLCA 17 47688672 47688672 + Missense_Mutation SNP C C G TCGA-CU-A3YL-01A-11D-A22Z-08 TCGA-CU-A3YL-10A-01D-A22Z-08 g.chr17:47688672C>G c.628G>C c.(628-630)Gaa>Caa p.E210Q BLCA 17 47696435 47696435 + Missense_Mutation SNP C C G TCGA-LC-A66R-01A-41D-A30E-08 TCGA-LC-A66R-10A-01D-A30H-08 g.chr17:47696435C>G c.388G>C c.(388-390)Gac>Cac p.D130H BLCA 17 47696435 47696435 + Missense_Mutation SNP C C G TCGA-ZF-AA4N-01A-11D-A38G-08 TCGA-ZF-AA4N-10A-01D-A38J-08 g.chr17:47696435C>G c.388G>C c.(388-390)Gac>Cac p.D130H BLCA 17 47699369 47699369 + Missense_Mutation SNP C C T TCGA-XF-A8HI-01A-11D-A38G-08 TCGA-XF-A8HI-10A-01D-A38J-08 g.chr17:47699369C>T c.139G>A c.(139-141)Gaa>Aaa p.E47K BLCA 17 47699430 47699430 + Splice_Site SNP C C A TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 g.chr17:47699430C>A c.e4-1 BLCA 17 47700113 47700113 + Silent SNP C C T TCGA-HQ-A5NE-01A-12D-A289-08 TCGA-HQ-A5NE-10A-01D-A289-08 g.chr17:47700113C>T c.60G>A c.(58-60)gaG>gaA p.E20E BRCA 17 47688699 47688699 + Missense_Mutation SNP C C G TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 g.chr17:47688699C>G c.601G>C c.(601-603)Gac>Cac p.D201H BRCA 17 47688736 47688736 + Frame_Shift_Del DEL A A - TCGA-E9-A1NI-01A-11W-A16H-09 TCGA-E9-A1NI-10A-01D-A17G-09 g.chr17:47688736delA c.564delT c.(562-564)gatfs p.D188fs BRCA 17 47696471 47696471 + Splice_Site SNP C C T TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 g.chr17:47696471C>T c.e6-1 BRCA 17 47699344 47699344 + Missense_Mutation SNP G G C TCGA-AC-A5XS-01A-11D-A29N-09 TCGA-AC-A5XS-11A-13D-A29N-09 g.chr17:47699344G>C c.164C>G c.(163-165)tCt>tGt p.S55C BRCA 17 47700145 47700145 + Missense_Mutation SNP G G T TCGA-AC-A5XS-01A-11D-A29N-09 TCGA-AC-A5XS-11A-13D-A29N-09 g.chr17:47700145G>T c.28C>A c.(28-30)Ccg>Acg p.P10T CESC 17 47696599 47696599 + Missense_Mutation SNP T T C TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 g.chr17:47696599T>C c.349A>G c.(349-351)Atg>Gtg p.M117V COAD 17 47679313 47679313 + Silent SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr17:47679313G>A c.894C>T c.(892-894)tcC>tcT p.S298S COAD 17 47684619 47684619 + Missense_Mutation SNP G G A TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr17:47684619G>A c.830C>T c.(829-831)gCt>gTt p.A277V COAD 17 47684704 47684704 + Nonsense_Mutation SNP C C A TCGA-A6-6649-01A-11D-1771-10 TCGA-A6-6649-10A-01D-1771-10 g.chr17:47684704C>A c.745G>T c.(745-747)Gaa>Taa p.E249* COAD 17 47685238 47685238 + Missense_Mutation SNP T T C TCGA-A6-2672-01A-01W-0833-10 TCGA-A6-2672-10A-01W-0833-10 g.chr17:47685238T>C c.712A>G c.(712-714)Aag>Gag p.K238E COADREAD 17 47679313 47679313 + Silent SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr17:47679313G>A c.894C>T c.(892-894)tcC>tcT p.S298S COADREAD 17 47684619 47684619 + Missense_Mutation SNP G G A TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr17:47684619G>A c.830C>T c.(829-831)gCt>gTt p.A277V COADREAD 17 47684704 47684704 + Nonsense_Mutation SNP C C A TCGA-A6-6649-01A-11D-1771-10 TCGA-A6-6649-10A-01D-1771-10 g.chr17:47684704C>A c.745G>T c.(745-747)Gaa>Taa p.E249* COADREAD 17 47685238 47685238 + Missense_Mutation SNP T T C TCGA-A6-2672-01A-01W-0833-10 TCGA-A6-2672-10A-01W-0833-10 g.chr17:47685238T>C c.712A>G c.(712-714)Aag>Gag p.K238E DLBC 17 47696644 47696644 + Missense_Mutation SNP A A T TCGA-GR-A4D4-01A-11D-A31X-10 TCGA-GR-A4D4-10A-01D-A31X-10 g.chr17:47696644A>T c.304T>A c.(304-306)Ttc>Atc p.F102I ESCA 17 47688654 47688654 + Missense_Mutation SNP C C T TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 g.chr17:47688654C>T c.646G>A c.(646-648)Gct>Act p.A216T ESCA 17 47699360 47699360 + Missense_Mutation SNP C C T TCGA-L5-A88W-01A-11D-A351-09 TCGA-L5-A88W-11A-11D-A351-09 g.chr17:47699360C>T c.148G>A c.(148-150)Gaa>Aaa p.E50K GBMLGG 17 47688719 47688719 + Missense_Mutation SNP C C A TCGA-DB-5275-01A-01D-1468-08 TCGA-DB-5275-10A-01D-1468-08 g.chr17:47688719C>A c.581G>T c.(580-582)tGg>tTg p.W194L GBMLGG 17 47688737 47688737 + Missense_Mutation SNP T T G TCGA-FN-7833-01A-11D-2086-08 TCGA-FN-7833-10A-01D-2086-08 g.chr17:47688737T>G c.563A>C c.(562-564)gAt>gCt p.D188A GBMLGG 17 47696430 47696430 + Missense_Mutation SNP C C G TCGA-E1-A7YL-01A-11D-A34A-08 TCGA-E1-A7YL-10A-01D-A34A-08 g.chr17:47696430C>G c.393G>C c.(391-393)tgG>tgC p.W131C GBMLGG 17 47696646 47696646 + Missense_Mutation SNP T T A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:47696646T>A c.302A>T c.(301-303)aAa>aTa p.K101I HNSC 17 47679366 47679366 + Missense_Mutation SNP C C A TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 g.chr17:47679366C>A c.841G>T c.(841-843)Gcc>Tcc p.A281S HNSC 17 47684716 47684716 + Missense_Mutation SNP C C T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 g.chr17:47684716C>T c.733G>A c.(733-735)Gat>Aat p.D245N HNSC 17 47688665 47688665 + Missense_Mutation SNP T T C TCGA-CR-6467-01A-11D-1870-08 TCGA-CR-6467-10A-01D-1870-08 g.chr17:47688665T>C c.635A>G c.(634-636)cAg>cGg p.Q212R HNSC 17 47696729 47696729 + Silent SNP G G C TCGA-DQ-5629-01A-01D-1870-08 TCGA-DQ-5629-10A-01D-1870-08 g.chr17:47696729G>C c.219C>G c.(217-219)ccC>ccG p.P73P HNSC 17 47699430 47699430 + Splice_Site SNP C C G TCGA-CR-7388-01A-11D-2012-08 TCGA-CR-7388-10A-01D-2013-08 g.chr17:47699430C>G c.e4-1 HNSC 17 47700125 47700126 + Frame_Shift_Ins INS - - CCAC TCGA-CN-4725-01A-01D-1434-08 TCGA-CN-4725-10A-01D-1434-08 g.chr17:47700125_47700126insCCAC c.47_48insGTGG c.(46-48)ggcfs p.-16fs HNSC 17 47700159 47700159 + Missense_Mutation SNP G G A TCGA-D6-A74Q-01A-11D-A34J-08 TCGA-D6-A74Q-10A-02D-A34M-08 g.chr17:47700159G>A c.14C>T c.(13-15)cCa>cTa p.P5L KIPAN 17 47688691 47688691 + Missense_Mutation SNP G G C TCGA-A3-3331-01A-01W-0886-08 TCGA-A3-3331-11A-01W-0886-08 g.chr17:47688691G>C c.609C>G c.(607-609)tgC>tgG p.C203W KIRC 17 47688691 47688691 + Missense_Mutation SNP G G C TCGA-A3-3331-01A-01W-0886-08 TCGA-A3-3331-11A-01W-0886-08 g.chr17:47688691G>C c.609C>G c.(607-609)tgC>tgG p.C203W LGG 17 47688719 47688719 + Missense_Mutation SNP C C A TCGA-DB-5275-01A-01D-1468-08 TCGA-DB-5275-10A-01D-1468-08 g.chr17:47688719C>A c.581G>T c.(580-582)tGg>tTg p.W194L LGG 17 47688737 47688737 + Missense_Mutation SNP T T G TCGA-FN-7833-01A-11D-2086-08 TCGA-FN-7833-10A-01D-2086-08 g.chr17:47688737T>G c.563A>C c.(562-564)gAt>gCt p.D188A LGG 17 47696430 47696430 + Missense_Mutation SNP C C G TCGA-E1-A7YL-01A-11D-A34A-08 TCGA-E1-A7YL-10A-01D-A34A-08 g.chr17:47696430C>G c.393G>C c.(391-393)tgG>tgC p.W131C LGG 17 47696646 47696646 + Missense_Mutation SNP T T A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:47696646T>A c.302A>T c.(301-303)aAa>aTa p.K101I LIHC 17 47677798 47677798 + Missense_Mutation SNP A A T TCGA-DD-A113-01A-11D-A12Z-10 TCGA-DD-A113-10A-01D-A12Z-10 g.chr17:47677798A>T c.1067T>A c.(1066-1068)cTg>cAg p.L356Q LIHC 17 47677854 47677854 + Silent SNP C C T TCGA-DD-A119-01A-11D-A12Z-10 TCGA-DD-A119-10A-01D-A12Z-10 g.chr17:47677854C>T c.1011G>A c.(1009-1011)ggG>ggA p.G337G LIHC 17 47679227 47679227 + Splice_Site SNP T T C TCGA-UB-A7MB-01A-11D-A33Q-10 TCGA-UB-A7MB-10A-01D-A33Q-10 g.chr17:47679227T>C c.980A>G c.(979-981)tAt>tGt p.Y327C LIHC 17 47684733 47684733 + Splice_Site SNP T T C TCGA-FV-A2QR-01A-11D-A20W-10 TCGA-FV-A2QR-11A-11D-A20W-10 g.chr17:47684733T>C c.716A>G c.(715-717)aAt>aGt p.N239S LIHC 17 47699405 47699405 + Missense_Mutation SNP T T A TCGA-UB-A7MB-01A-11D-A33Q-10 TCGA-UB-A7MB-10A-01D-A33Q-10 g.chr17:47699405T>A c.103A>T c.(103-105)Atg>Ttg p.M35L LUAD 17 47688725 47688725 + Missense_Mutation SNP C C G TCGA-55-8203-01A-11D-2238-08 TCGA-55-8203-10A-01D-2238-08 g.chr17:47688725C>G c.575G>C c.(574-576)gGa>gCa p.G192A LUAD 17 47696461 47696461 + Missense_Mutation SNP C C T TCGA-75-7030-01A-11D-1945-08 TCGA-75-7030-10A-01D-1946-08 g.chr17:47696461C>T c.362G>A c.(361-363)cGg>cAg p.R121Q LUAD 17 47696724 47696724 + Missense_Mutation SNP C C A TCGA-35-5375-01A-01D-1625-08 TCGA-35-5375-10A-01D-1625-08 g.chr17:47696724C>A c.224G>T c.(223-225)gGg>gTg p.G75V LUAD 17 47696725 47696725 + Missense_Mutation SNP C C A TCGA-35-5375-01A-01D-1625-08 TCGA-35-5375-10A-01D-1625-08 g.chr17:47696725C>A c.223G>T c.(223-225)Ggg>Tgg p.G75W LUSC 17 47688717 47688717 + Nonsense_Mutation SNP C C A TCGA-39-5022-01A-21D-1817-08 TCGA-39-5022-11A-01D-1817-08 g.chr17:47688717C>A c.583G>T c.(583-585)Gag>Tag p.E195* OV 17 47684704 47684704 + Nonsense_Mutation SNP C C A TCGA-36-1568-01A-01W-0615-10 TCGA-36-1568-10A-01W-0615-10 g.chr17:47684704C>A c.745G>T c.(745-747)Gaa>Taa p.E249* PRAD 17 47677762 47677762 + Missense_Mutation SNP C C T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 g.chr17:47677762C>T c.1103G>A c.(1102-1104)cGc>cAc p.R368H PRAD 17 47679302 47679302 + Missense_Mutation SNP G G A TCGA-V1-A9OY-01A-11D-A41K-08 TCGA-V1-A9OY-10A-01D-A41N-08 g.chr17:47679302G>A c.905C>T c.(904-906)gCt>gTt p.A302V PRAD 17 47685270 47685270 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr17:47685270G>A c.680C>T c.(679-681)gCc>gTc p.A227V PRAD 17 47696424 47696424 + Missense_Mutation SNP G G C TCGA-HC-8261-01A-11D-2260-08 TCGA-HC-8261-10A-01D-2260-08 g.chr17:47696424G>C c.399C>G c.(397-399)ttC>ttG p.F133L PRAD 17 47696424 47696424 + Missense_Mutation SNP G G C TCGA-HC-A6AP-01A-11D-A30E-08 TCGA-HC-A6AP-10A-01D-A30H-08 g.chr17:47696424G>C c.399C>G c.(397-399)ttC>ttG p.F133L PRAD 17 47696424 47696424 + Missense_Mutation SNP G G C TCGA-V1-A9ZK-01A-11D-A41K-08 TCGA-V1-A9ZK-10A-01D-A41N-08 g.chr17:47696424G>C c.399C>G c.(397-399)ttC>ttG p.F133L PRAD 17 47696424 47696424 + Missense_Mutation SNP G G T TCGA-EJ-7330-01A-11D-2114-08 TCGA-EJ-7330-10A-01D-2114-08 g.chr17:47696424G>T c.399C>A c.(397-399)ttC>ttA p.F133L PRAD 17 47696424 47696424 + Missense_Mutation SNP G G T TCGA-G9-6333-01A-12D-1961-08 TCGA-G9-6333-10A-01D-1961-08 g.chr17:47696424G>T c.399C>A c.(397-399)ttC>ttA p.F133L PRAD 17 47696424 47696424 + Missense_Mutation SNP G G T TCGA-ZG-A8QY-01A-11D-A377-08 TCGA-ZG-A8QY-10A-01D-A37A-08 g.chr17:47696424G>T c.399C>A c.(397-399)ttC>ttA p.F133L PRAD 17 47696425 47696425 + Missense_Mutation SNP A A C TCGA-EJ-5509-01A-01D-1576-08 TCGA-EJ-5509-10A-01D-1577-08 g.chr17:47696425A>C c.398T>G c.(397-399)tTc>tGc p.F133C PRAD 17 47696425 47696425 + Missense_Mutation SNP A A C TCGA-FC-7961-01A-11D-A29Q-08 TCGA-FC-7961-10A-01D-A29Q-08 g.chr17:47696425A>C c.398T>G c.(397-399)tTc>tGc p.F133C PRAD 17 47696425 47696425 + Missense_Mutation SNP A A C TCGA-J4-A83J-01A-11D-A364-08 TCGA-J4-A83J-10B-01D-A362-08 g.chr17:47696425A>C c.398T>G c.(397-399)tTc>tGc p.F133C PRAD 17 47696425 47696425 + Missense_Mutation SNP A A C TCGA-KK-A59Z-01A-12D-A26M-08 TCGA-KK-A59Z-11A-11D-A26K-08 g.chr17:47696425A>C c.398T>G c.(397-399)tTc>tGc p.F133C PRAD 17 47696425 47696425 + Missense_Mutation SNP A A G TCGA-EJ-8468-01A-21D-2395-08 TCGA-EJ-8468-10A-01D-2395-08 g.chr17:47696425A>G c.398T>C c.(397-399)tTc>tCc p.F133S PRAD 17 47696426 47696426 + Missense_Mutation SNP A A C TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 g.chr17:47696426A>C c.397T>G c.(397-399)Ttc>Gtc p.F133V PRAD 17 47696426 47696426 + Missense_Mutation SNP A A C TCGA-J4-A6G3-01A-11D-A30X-08 TCGA-J4-A6G3-10A-01D-A30X-08 g.chr17:47696426A>C c.397T>G c.(397-399)Ttc>Gtc p.F133V PRAD 17 47696426 47696426 + Missense_Mutation SNP A A C TCGA-KK-A7AQ-01A-11D-A33T-08 TCGA-KK-A7AQ-11A-11D-A33W-08 g.chr17:47696426A>C c.397T>G c.(397-399)Ttc>Gtc p.F133V PRAD 17 47696426 47696426 + Missense_Mutation SNP A A C TCGA-KK-A8IK-01A-11D-A364-08 TCGA-KK-A8IK-11A-11D-A362-08 g.chr17:47696426A>C c.397T>G c.(397-399)Ttc>Gtc p.F133V PRAD 17 47696426 47696426 + Missense_Mutation SNP A A C TCGA-VP-A87B-01A-11D-A34U-08 TCGA-VP-A87B-10A-01D-A34X-08 g.chr17:47696426A>C c.397T>G c.(397-399)Ttc>Gtc p.F133V PRAD 17 47696426 47696426 + Missense_Mutation SNP A A C TCGA-VP-A87H-01A-11D-A34U-08 TCGA-VP-A87H-10A-01D-A34X-08 g.chr17:47696426A>C c.397T>G c.(397-399)Ttc>Gtc p.F133V PRAD 17 47696426 47696426 + Missense_Mutation SNP A A G TCGA-HC-8258-01A-11D-2260-08 TCGA-HC-8258-10A-01D-2260-08 g.chr17:47696426A>G c.397T>C c.(397-399)Ttc>Ctc p.F133L PRAD 17 47696426 47696426 + Missense_Mutation SNP A A T TCGA-J9-A52D-01A-11D-A29Q-08 TCGA-J9-A52D-10A-01D-A29Q-08 g.chr17:47696426A>T c.397T>A c.(397-399)Ttc>Atc p.F133I PRAD 17 47696426 47696426 + Missense_Mutation SNP A A T TCGA-KK-A6E0-01A-11D-A30X-08 TCGA-KK-A6E0-11A-11D-A30X-08 g.chr17:47696426A>T c.397T>A c.(397-399)Ttc>Atc p.F133I PRAD 17 47696430 47696430 + Missense_Mutation SNP C C G TCGA-XK-AAJ3-01A-11D-A41K-08 TCGA-XK-AAJ3-10A-01D-A41N-08 g.chr17:47696430C>G c.393G>C c.(391-393)tgG>tgC p.W131C PRAD 17 47696431 47696431 + Missense_Mutation SNP C C A TCGA-KK-A8I9-01A-11D-A364-08 TCGA-KK-A8I9-11A-11D-A362-08 g.chr17:47696431C>A c.392G>T c.(391-393)tGg>tTg p.W131L PRAD 17 47696431 47696431 + Missense_Mutation SNP C C A TCGA-X4-A8KS-01A-12D-A364-08 TCGA-X4-A8KS-10A-01D-A362-08 g.chr17:47696431C>A c.392G>T c.(391-393)tGg>tTg p.W131L PRAD 17 47696431 47696431 + Missense_Mutation SNP C C G TCGA-HC-7080-01A-11D-1961-08 TCGA-HC-7080-10A-01D-1961-08 g.chr17:47696431C>G c.392G>C c.(391-393)tGg>tCg p.W131S PRAD 17 47696432 47696432 + Missense_Mutation SNP A A C TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 g.chr17:47696432A>C c.391T>G c.(391-393)Tgg>Ggg p.W131G PRAD 17 47696432 47696432 + Missense_Mutation SNP A A C TCGA-EJ-7115-01A-11D-2114-08 TCGA-EJ-7115-10A-01D-2114-08 g.chr17:47696432A>C c.391T>G c.(391-393)Tgg>Ggg p.W131G PRAD 17 47696432 47696432 + Missense_Mutation SNP A A C TCGA-G9-6369-01A-21D-1961-08 TCGA-G9-6369-10A-01D-1961-08 g.chr17:47696432A>C c.391T>G c.(391-393)Tgg>Ggg p.W131G PRAD 17 47696432 47696432 + Missense_Mutation SNP A A C TCGA-V1-A9OF-01A-11D-A41K-08 TCGA-V1-A9OF-10A-01D-A41N-08 g.chr17:47696432A>C c.391T>G c.(391-393)Tgg>Ggg p.W131G PRAD 17 47696432 47696432 + Missense_Mutation SNP A A C TCGA-XJ-A83G-01A-11D-A34U-08 TCGA-XJ-A83G-10A-01D-A34X-08 g.chr17:47696432A>C c.391T>G c.(391-393)Tgg>Ggg p.W131G PRAD 17 47696432 47696432 + Missense_Mutation SNP A A C TCGA-Y6-A8TL-01A-21D-A377-08 TCGA-Y6-A8TL-10A-01D-A37A-08 g.chr17:47696432A>C c.391T>G c.(391-393)Tgg>Ggg p.W131G PRAD 17 47696432 47696432 + Missense_Mutation SNP A A C TCGA-YL-A8SO-01B-31D-A377-08 TCGA-YL-A8SO-10A-01D-A37A-08 g.chr17:47696432A>C c.391T>G c.(391-393)Tgg>Ggg p.W131G PRAD 17 47696432 47696432 + Missense_Mutation SNP A A C TCGA-ZG-A9ND-01A-11D-A41K-08 TCGA-ZG-A9ND-10A-01D-A41N-08 g.chr17:47696432A>C c.391T>G c.(391-393)Tgg>Ggg p.W131G PRAD 17 47696432 47696432 + Missense_Mutation SNP A A G TCGA-EJ-5531-01A-01D-1576-08 TCGA-EJ-5531-10A-01D-1577-08 g.chr17:47696432A>G c.391T>C c.(391-393)Tgg>Cgg p.W131R PRAD 17 47696432 47696432 + Missense_Mutation SNP A A G TCGA-ZG-A9L6-01A-11D-A41K-08 TCGA-ZG-A9L6-10A-01D-A41N-08 g.chr17:47696432A>G c.391T>C c.(391-393)Tgg>Cgg p.W131R PRAD 17 47696433 47696433 + Missense_Mutation SNP G G C TCGA-KK-A8IF-01A-11D-A364-08 TCGA-KK-A8IF-11A-11D-A362-08 g.chr17:47696433G>C c.390C>G c.(388-390)gaC>gaG p.D130E PRAD 17 47696438 47696438 + Missense_Mutation SNP T T C TCGA-V1-A9OX-01A-11D-A41K-08 TCGA-V1-A9OX-10A-01D-A41N-08 g.chr17:47696438T>C c.385A>G c.(385-387)Aaa>Gaa p.K129E PRAD 17 47696450 47696450 + Missense_Mutation SNP A A G TCGA-VN-A88R-01A-11D-A364-08 TCGA-VN-A88R-10B-01D-A362-08 g.chr17:47696450A>G c.373T>C c.(373-375)Ttt>Ctt p.F125L PRAD 17 47696450 47696450 + Missense_Mutation SNP A A T TCGA-VN-A88O-01A-11D-A34U-08 TCGA-VN-A88O-10A-01D-A34X-08 g.chr17:47696450A>T c.373T>A c.(373-375)Ttt>Att p.F125I PRAD 17 47696457 47696462 + In_Frame_Del DEL TGCCCG TGCCCG - TCGA-G9-7510-01A-11D-2260-08 TCGA-G9-7510-10A-01D-2260-08 g.chr17:47696457_47696462delTGCCCG c.361_366delCGGGCA c.(361-366)cgggcadel p.RA121del PRAD 17 47696637 47696637 + Missense_Mutation SNP A A G TCGA-G9-6338-01A-12D-1961-08 TCGA-G9-6338-10A-01D-1961-08 g.chr17:47696637A>G c.311T>C c.(310-312)tTc>tCc p.F104S PRAD 17 47696643 47696643 + Missense_Mutation SNP A A C TCGA-EJ-7123-01A-11D-1961-08 TCGA-EJ-7123-10A-01D-1961-08 g.chr17:47696643A>C c.305T>G c.(304-306)tTc>tGc p.F102C PRAD 17 47696643 47696643 + Missense_Mutation SNP A A C TCGA-KK-A59X-01A-11D-A29Q-08 TCGA-KK-A59X-11A-21D-A29Q-08 g.chr17:47696643A>C c.305T>G c.(304-306)tTc>tGc p.F102C PRAD 17 47696643 47696643 + Missense_Mutation SNP A A G TCGA-EJ-A8FS-01A-11D-A34U-08 TCGA-EJ-A8FS-10A-01D-A34X-08 g.chr17:47696643A>G c.305T>C c.(304-306)tTc>tCc p.F102S PRAD 17 47696643 47696643 + Missense_Mutation SNP A A G TCGA-KK-A7B0-01A-11D-A32B-08 TCGA-KK-A7B0-11A-11D-A329-08 g.chr17:47696643A>G c.305T>C c.(304-306)tTc>tCc p.F102S PRAD 17 47696644 47696644 + Missense_Mutation SNP A A C TCGA-EJ-A65E-01A-11D-A29Q-08 TCGA-EJ-A65E-10A-01D-A29Q-08 g.chr17:47696644A>C c.304T>G c.(304-306)Ttc>Gtc p.F102V PRAD 17 47696644 47696644 + Missense_Mutation SNP A A C TCGA-KC-A7F5-01A-11D-A33T-08 TCGA-KC-A7F5-10A-01D-A33W-08 g.chr17:47696644A>C c.304T>G c.(304-306)Ttc>Gtc p.F102V PRAD 17 47696644 47696644 + Missense_Mutation SNP A A C TCGA-QU-A6IM-01A-11D-A31L-08 TCGA-QU-A6IM-10A-01D-A31J-08 g.chr17:47696644A>C c.304T>G c.(304-306)Ttc>Gtc p.F102V PRAD 17 47696644 47696644 + Missense_Mutation SNP A A C TCGA-YL-A8SH-01B-11D-A377-08 TCGA-YL-A8SH-10A-01D-A37A-08 g.chr17:47696644A>C c.304T>G c.(304-306)Ttc>Gtc p.F102V PRAD 17 47696688 47696688 + Missense_Mutation SNP T T C TCGA-EJ-A65M-01A-11D-A29Q-08 TCGA-EJ-A65M-10A-01D-A29Q-08 g.chr17:47696688T>C c.260A>G c.(259-261)tAc>tGc p.Y87C PRAD 17 47696688 47696688 + Missense_Mutation SNP T T C TCGA-TP-A8TV-01A-11D-A41K-08 TCGA-TP-A8TV-10A-01D-A41N-08 g.chr17:47696688T>C c.260A>G c.(259-261)tAc>tGc p.Y87C PRAD 17 47696688 47696688 + Missense_Mutation SNP T T G TCGA-EJ-5505-01A-01D-1576-08 TCGA-EJ-5505-10A-01D-1577-08 g.chr17:47696688T>G c.260A>C c.(259-261)tAc>tCc p.Y87S PRAD 17 47696688 47696688 + Missense_Mutation SNP T T G TCGA-YL-A8HM-01A-11D-A364-08 TCGA-YL-A8HM-10A-01D-A362-08 g.chr17:47696688T>G c.260A>C c.(259-261)tAc>tCc p.Y87S PRAD 17 47696689 47696689 + Missense_Mutation SNP A A T TCGA-YL-A8S8-01A-11D-A377-08 TCGA-YL-A8S8-10A-01D-A37A-08 g.chr17:47696689A>T c.259T>A c.(259-261)Tac>Aac p.Y87N PRAD 17 47696689 47696689 + Missense_Mutation SNP A A T TCGA-ZG-A8QX-01A-11D-A377-08 TCGA-ZG-A8QX-10A-01D-A37A-08 g.chr17:47696689A>T c.259T>A c.(259-261)Tac>Aac p.Y87N PRAD 17 47699392 47699392 + Frame_Shift_Del DEL T T - TCGA-VP-A878-01A-31D-A34U-08 TCGA-VP-A878-10A-01D-A34X-08 g.chr17:47699392delT c.116delA c.(115-117)aatfs p.N40fs SKCM 17 47684678 47684678 + Silent SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 g.chr17:47684678G>A c.771C>T c.(769-771)ttC>ttT p.F257F SKCM 17 47685283 47685283 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 g.chr17:47685283G>A c.667C>T c.(667-669)Ccg>Tcg p.P223S SKCM 17 47688703 47688703 + Silent SNP G G A TCGA-GN-A262-06A-11D-A196-08 TCGA-GN-A262-10A-01D-A198-08 g.chr17:47688703G>A c.597C>T c.(595-597)ttC>ttT p.F199F SKCM 17 47688704 47688704 + Missense_Mutation SNP A A T TCGA-GN-A262-06A-11D-A196-08 TCGA-GN-A262-10A-01D-A198-08 g.chr17:47688704A>T c.596T>A c.(595-597)tTc>tAc p.F199Y

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 47696675 47696675 single base substitution G A 3_prime_UTR_variant BLCA-CN 17 47696675 47696675 single base substitution G A downstream_gene_variant BLCA-CN 17 47696675 47696675 single base substitution G A exon_variant BLCA-CN 17 47696675 47696675 single base substitution G A synonymous_variant V91V 273C>T BLCA-CN 17 47696675 47696675 single base substitution G A upstream_gene_variant BLCA-US 17 47688672 47688672 single base substitution C G 3_prime_UTR_variant BLCA-US 17 47688672 47688672 single base substitution C G downstream_gene_variant BLCA-US 17 47688672 47688672 single base substitution C G exon_variant BLCA-US 17 47688672 47688672 single base substitution C G missense_variant E210Q 628G>C BLCA-US 17 47699430 47699430 single base substitution C A downstream_gene_variant BLCA-US 17 47699430 47699430 single base substitution C A splice_acceptor_variant BLCA-US 17 47699430 47699430 single base substitution C A upstream_gene_variant BOCA-FR 17 47723153 47723153 single base substitution A T intron_variant BRCA-EU 17 47673199 47673199 single base substitution C G downstream_gene_variant BRCA-EU 17 47673952 47673952 single base substitution C A downstream_gene_variant BRCA-EU 17 47676016 47676016 single base substitution C T downstream_gene_variant BRCA-EU 17 47676503 47676503 single base substitution C T 3_prime_UTR_variant BRCA-EU 17 47676503 47676503 single base substitution C T downstream_gene_variant BRCA-EU 17 47676878 47676878 single base substitution T G 3_prime_UTR_variant BRCA-EU 17 47676878 47676878 single base substitution T G downstream_gene_variant BRCA-EU 17 47676878 47676878 single base substitution T G exon_variant BRCA-EU 17 47676989 47676989 single base substitution C G 3_prime_UTR_variant BRCA-EU 17 47676989 47676989 single base substitution C G downstream_gene_variant BRCA-EU 17 47676989 47676989 single base substitution C G exon_variant BRCA-EU 17 47677189 47677189 single base substitution G A 3_prime_UTR_variant BRCA-EU 17 47677189 47677189 single base substitution G A downstream_gene_variant BRCA-EU 17 47677189 47677189 single base substitution G A exon_variant BRCA-EU 17 47677432 47677432 single base substitution G A 3_prime_UTR_variant BRCA-EU 17 47677432 47677432 single base substitution G A downstream_gene_variant BRCA-EU 17 47677432 47677432 single base substitution G A exon_variant BRCA-EU 17 47677633 47677660 deletion of <=200bp CAACAGAGTAAAAGCTCCACAGATTGCG - 3_prime_UTR_variant BRCA-EU 17 47677633 47677660 deletion of <=200bp CAACAGAGTAAAAGCTCCACAGATTGCG - downstream_gene_variant BRCA-EU 17 47677633 47677660 deletion of <=200bp CAACAGAGTAAAAGCTCCACAGATTGCG - exon_variant BRCA-EU 17 47678290 47678290 single base substitution C A exon_variant BRCA-EU 17 47678290 47678290 single base substitution C A intron_variant BRCA-EU 17 47678460 47678460 single base substitution C G exon_variant BRCA-EU 17 47678460 47678460 single base substitution C G intron_variant BRCA-EU 17 47678586 47678586 single base substitution C A exon_variant BRCA-EU 17 47678586 47678586 single base substitution C A intron_variant BRCA-EU 17 47678818 47678818 single base substitution C G exon_variant BRCA-EU 17 47678818 47678818 single base substitution C G intron_variant BRCA-EU 17 47679030 47679030 single base substitution A G intron_variant BRCA-EU 17 47679030 47679030 single base substitution A G upstream_gene_variant BRCA-EU 17 47679187 47679187 single base substitution C G exon_variant BRCA-EU 17 47679187 47679187 single base substitution C G intron_variant BRCA-EU 17 47679187 47679187 single base substitution C G upstream_gene_variant BRCA-EU 17 47679551 47679551 single base substitution C G downstream_gene_variant BRCA-EU 17 47679551 47679551 single base substitution C G exon_variant BRCA-EU 17 47679551 47679551 single base substitution C G intron_variant BRCA-EU 17 47679551 47679551 single base substitution C G upstream_gene_variant BRCA-EU 17 47679838 47679838 single base substitution C G downstream_gene_variant BRCA-EU 17 47679838 47679838 single base substitution C G intron_variant BRCA-EU 17 47679838 47679838 single base substitution C G upstream_gene_variant BRCA-EU 17 47680518 47680518 single base substitution G A downstream_gene_variant BRCA-EU 17 47680518 47680518 single base substitution G A intron_variant BRCA-EU 17 47680518 47680518 single base substitution G A upstream_gene_variant BRCA-EU 17 47680519 47680519 single base substitution C A downstream_gene_variant BRCA-EU 17 47680519 47680519 single base substitution C A intron_variant BRCA-EU 17 47680519 47680519 single base substitution C A upstream_gene_variant BRCA-EU 17 47681021 47681021 single base substitution G A downstream_gene_variant BRCA-EU 17 47681021 47681021 single base substitution G A intron_variant BRCA-EU 17 47681021 47681021 single base substitution G A upstream_gene_variant BRCA-EU 17 47681793 47681793 single base substitution G A downstream_gene_variant BRCA-EU 17 47681793 47681793 single base substitution G A intron_variant BRCA-EU 17 47681793 47681793 single base substitution G A upstream_gene_variant BRCA-EU 17 47682125 47682125 single base substitution A C downstream_gene_variant BRCA-EU 17 47682125 47682125 single base substitution A C intron_variant BRCA-EU 17 47682125 47682125 single base substitution A C upstream_gene_variant BRCA-EU 17 47682885 47682885 single base substitution C T downstream_gene_variant BRCA-EU 17 47682885 47682885 single base substitution C T intron_variant BRCA-EU 17 47682885 47682885 single base substitution C T upstream_gene_variant BRCA-EU 17 47683934 47683934 single base substitution C T downstream_gene_variant BRCA-EU 17 47683934 47683934 single base substitution C T intron_variant BRCA-EU 17 47683934 47683934 single base substitution C T upstream_gene_variant BRCA-EU 17 47684310 47684310 single base substitution G C downstream_gene_variant BRCA-EU 17 47684310 47684310 single base substitution G C intron_variant BRCA-EU 17 47684310 47684310 single base substitution G C upstream_gene_variant BRCA-EU 17 47684657 47684657 single base substitution T C 3_prime_UTR_variant BRCA-EU 17 47684657 47684657 single base substitution T C downstream_gene_variant BRCA-EU 17 47684657 47684657 single base substitution T C exon_variant BRCA-EU 17 47684657 47684657 single base substitution T C synonymous_variant P264P 792A>G BRCA-EU 17 47684657 47684657 single base substitution T C upstream_gene_variant BRCA-EU 17 47684977 47684977 single base substitution C G downstream_gene_variant BRCA-EU 17 47684977 47684977 single base substitution C G intron_variant BRCA-EU 17 47684983 47684983 single base substitution T C downstream_gene_variant BRCA-EU 17 47684983 47684983 single base substitution T C intron_variant BRCA-EU 17 47686157 47686157 single base substitution G C downstream_gene_variant BRCA-EU 17 47686157 47686157 single base substitution G C intron_variant BRCA-EU 17 47687130 47687130 single base substitution G C downstream_gene_variant BRCA-EU 17 47687130 47687130 single base substitution G C intron_variant BRCA-EU 17 47687585 47687585 deletion of <=200bp T - downstream_gene_variant BRCA-EU 17 47687585 47687585 deletion of <=200bp T - intron_variant BRCA-EU 17 47687586 47687586 single base substitution T G downstream_gene_variant BRCA-EU 17 47687586 47687586 single base substitution T G intron_variant BRCA-EU 17 47689106 47689106 single base substitution G C intron_variant BRCA-EU 17 47689106 47689106 single base substitution G C upstream_gene_variant BRCA-EU 17 47689232 47689232 single base substitution G C intron_variant BRCA-EU 17 47689232 47689232 single base substitution G C upstream_gene_variant BRCA-EU 17 47689617 47689617 single base substitution T G intron_variant BRCA-EU 17 47689617 47689617 single base substitution T G upstream_gene_variant BRCA-EU 17 47689824 47689824 single base substitution T C intron_variant BRCA-EU 17 47689824 47689824 single base substitution T C upstream_gene_variant BRCA-EU 17 47690652 47690652 single base substitution A G intron_variant BRCA-EU 17 47690652 47690652 single base substitution A G upstream_gene_variant BRCA-EU 17 47691516 47691516 single base substitution C G downstream_gene_variant BRCA-EU 17 47691516 47691516 single base substitution C G intron_variant BRCA-EU 17 47691516 47691516 single base substitution C G upstream_gene_variant BRCA-EU 17 47692327 47692327 single base substitution C A downstream_gene_variant BRCA-EU 17 47692327 47692327 single base substitution C A intron_variant BRCA-EU 17 47692327 47692327 single base substitution C A upstream_gene_variant BRCA-EU 17 47693293 47693293 single base substitution C A downstream_gene_variant BRCA-EU 17 47693293 47693293 single base substitution C A intron_variant BRCA-EU 17 47693293 47693293 single base substitution C A upstream_gene_variant BRCA-EU 17 47694167 47694167 single base substitution A G downstream_gene_variant BRCA-EU 17 47694167 47694167 single base substitution A G intron_variant BRCA-EU 17 47696421 47696421 single base substitution C G 3_prime_UTR_variant BRCA-EU 17 47696421 47696421 single base substitution C G downstream_gene_variant BRCA-EU 17 47696421 47696421 single base substitution C G exon_variant BRCA-EU 17 47696421 47696421 single base substitution C G missense_variant K134N 402G>C BRCA-EU 17 47696482 47696482 deletion of <=200bp A - downstream_gene_variant BRCA-EU 17 47696482 47696482 deletion of <=200bp A - intron_variant BRCA-EU 17 47696684 47696684 single base substitution C G 3_prime_UTR_variant BRCA-EU 17 47696684 47696684 single base substitution C G downstream_gene_variant BRCA-EU 17 47696684 47696684 single base substitution C G exon_variant BRCA-EU 17 47696684 47696684 single base substitution C G synonymous_variant L88L 264G>C BRCA-EU 17 47696684 47696684 single base substitution C G upstream_gene_variant BRCA-EU 17 47696826 47696826 single base substitution G C downstream_gene_variant BRCA-EU 17 47696826 47696826 single base substitution G C intron_variant BRCA-EU 17 47696826 47696826 single base substitution G C upstream_gene_variant BRCA-EU 17 47696980 47696980 single base substitution G C downstream_gene_variant BRCA-EU 17 47696980 47696980 single base substitution G C intron_variant BRCA-EU 17 47696980 47696980 single base substitution G C upstream_gene_variant BRCA-EU 17 47697725 47697725 single base substitution G T downstream_gene_variant BRCA-EU 17 47697725 47697725 single base substitution G T intron_variant BRCA-EU 17 47697725 47697725 single base substitution G T upstream_gene_variant BRCA-EU 17 47697959 47697959 single base substitution C A downstream_gene_variant BRCA-EU 17 47697959 47697959 single base substitution C A intron_variant BRCA-EU 17 47697959 47697959 single base substitution C A upstream_gene_variant BRCA-EU 17 47698731 47698731 single base substitution G C downstream_gene_variant BRCA-EU 17 47698731 47698731 single base substitution G C intron_variant BRCA-EU 17 47698731 47698731 single base substitution G C upstream_gene_variant BRCA-EU 17 47699032 47699032 single base substitution T G downstream_gene_variant BRCA-EU 17 47699032 47699032 single base substitution T G intron_variant BRCA-EU 17 47699032 47699032 single base substitution T G upstream_gene_variant BRCA-EU 17 47699327 47699327 single base substitution C G 3_prime_UTR_variant BRCA-EU 17 47699327 47699327 single base substitution C G downstream_gene_variant BRCA-EU 17 47699327 47699327 single base substitution C G exon_variant BRCA-EU 17 47699327 47699327 single base substitution C G missense_variant A61P 181G>C BRCA-EU 17 47699327 47699327 single base substitution C G upstream_gene_variant BRCA-EU 17 47700408 47700408 single base substitution G A intron_variant BRCA-EU 17 47700408 47700408 single base substitution G A upstream_gene_variant BRCA-EU 17 47700569 47700569 single base substitution C A intron_variant BRCA-EU 17 47700569 47700569 single base substitution C A upstream_gene_variant BRCA-EU 17 47700700 47700700 single base substitution G A intron_variant BRCA-EU 17 47700700 47700700 single base substitution G A upstream_gene_variant BRCA-EU 17 47700743 47700743 single base substitution C T intron_variant BRCA-EU 17 47700743 47700743 single base substitution C T upstream_gene_variant BRCA-EU 17 47700775 47700775 single base substitution C G intron_variant BRCA-EU 17 47700775 47700775 single base substitution C G upstream_gene_variant BRCA-EU 17 47700787 47700787 single base substitution G C intron_variant BRCA-EU 17 47700787 47700787 single base substitution G C upstream_gene_variant BRCA-EU 17 47700817 47700817 single base substitution C G intron_variant BRCA-EU 17 47700817 47700817 single base substitution C G upstream_gene_variant BRCA-EU 17 47700950 47700950 single base substitution C T intron_variant BRCA-EU 17 47700950 47700950 single base substitution C T upstream_gene_variant BRCA-EU 17 47701442 47701442 single base substitution C T intron_variant BRCA-EU 17 47701442 47701442 single base substitution C T upstream_gene_variant BRCA-EU 17 47703511 47703511 single base substitution G A intron_variant BRCA-EU 17 47705981 47705981 single base substitution G A intron_variant BRCA-EU 17 47706211 47706211 single base substitution C A intron_variant BRCA-EU 17 47706676 47706676 deletion of <=200bp T - intron_variant BRCA-EU 17 47708960 47708960 single base substitution C G intron_variant BRCA-EU 17 47709269 47709269 single base substitution C G intron_variant BRCA-EU 17 47709751 47709751 single base substitution G C intron_variant BRCA-EU 17 47710091 47710091 single base substitution T A intron_variant BRCA-EU 17 47710857 47710857 single base substitution T C intron_variant BRCA-EU 17 47710947 47710947 single base substitution T G intron_variant BRCA-EU 17 47711714 47711714 single base substitution G A intron_variant BRCA-EU 17 47713192 47713192 single base substitution C T intron_variant BRCA-EU 17 47713275 47713275 single base substitution T C intron_variant BRCA-EU 17 47714485 47714485 single base substitution G C intron_variant BRCA-EU 17 47714722 47714722 deletion of <=200bp T - intron_variant BRCA-EU 17 47715356 47715356 single base substitution C T intron_variant BRCA-EU 17 47715568 47715568 single base substitution G T intron_variant BRCA-EU 17 47717458 47717458 deletion of <=200bp A - intron_variant BRCA-EU 17 47717732 47717732 single base substitution A T intron_variant BRCA-EU 17 47718868 47718868 single base substitution G A intron_variant BRCA-EU 17 47720910 47720910 single base substitution C T intron_variant BRCA-EU 17 47721193 47721193 single base substitution G A intron_variant BRCA-EU 17 47721845 47721845 single base substitution G A intron_variant BRCA-EU 17 47723895 47723895 single base substitution A G 5_prime_UTR_variant BRCA-EU 17 47723895 47723895 single base substitution A G intron_variant BRCA-EU 17 47724296 47724296 single base substitution G C intron_variant BRCA-EU 17 47724296 47724296 single base substitution G C upstream_gene_variant BRCA-EU 17 47724838 47724838 single base substitution A T intron_variant BRCA-EU 17 47724838 47724838 single base substitution A T upstream_gene_variant BRCA-EU 17 47725847 47725847 single base substitution C A intron_variant BRCA-EU 17 47725847 47725847 single base substitution C A upstream_gene_variant BRCA-EU 17 47726129 47726129 single base substitution T C intron_variant BRCA-EU 17 47726129 47726129 single base substitution T C upstream_gene_variant BRCA-EU 17 47727785 47727785 single base substitution T A intron_variant BRCA-EU 17 47727785 47727785 single base substitution T A upstream_gene_variant BRCA-EU 17 47728141 47728141 single base substitution G C intron_variant BRCA-EU 17 47728141 47728141 single base substitution G C upstream_gene_variant BRCA-EU 17 47728543 47728543 single base substitution G C intron_variant BRCA-EU 17 47728543 47728543 single base substitution G C upstream_gene_variant BRCA-EU 17 47730107 47730107 single base substitution A T intron_variant BRCA-EU 17 47732938 47732938 single base substitution T G intron_variant BRCA-EU 17 47733181 47733181 deletion of <=200bp T - intron_variant BRCA-EU 17 47733918 47733918 single base substitution C G intron_variant BRCA-EU 17 47734981 47734981 single base substitution G C intron_variant BRCA-EU 17 47736544 47736544 single base substitution C A intron_variant BRCA-EU 17 47736793 47736793 single base substitution A T intron_variant BRCA-EU 17 47739250 47739250 single base substitution C A intron_variant BRCA-EU 17 47739279 47739279 single base substitution G A intron_variant BRCA-EU 17 47739540 47739540 single base substitution G A intron_variant BRCA-EU 17 47739590 47739590 single base substitution C T intron_variant BRCA-EU 17 47742324 47742324 single base substitution T A intron_variant BRCA-EU 17 47742674 47742674 single base substitution C A intron_variant BRCA-EU 17 47743276 47743276 single base substitution G A intron_variant BRCA-EU 17 47743563 47743563 single base substitution G A intron_variant BRCA-EU 17 47743948 47743948 single base substitution G C intron_variant BRCA-EU 17 47743955 47743955 single base substitution C A intron_variant BRCA-EU 17 47744902 47744902 single base substitution G C intron_variant BRCA-EU 17 47745949 47745949 single base substitution A G intron_variant BRCA-EU 17 47746551 47746551 single base substitution C G intron_variant BRCA-EU 17 47747421 47747421 single base substitution G A intron_variant BRCA-EU 17 47747485 47747485 single base substitution G A intron_variant BRCA-EU 17 47748490 47748490 single base substitution G C intron_variant BRCA-EU 17 47748578 47748578 single base substitution C T intron_variant BRCA-EU 17 47749115 47749115 single base substitution C T intron_variant BRCA-EU 17 47750702 47750702 single base substitution C G intron_variant BRCA-EU 17 47750922 47750922 insertion of <=200bp - A intron_variant BRCA-EU 17 47751173 47751173 single base substitution C G intron_variant BRCA-EU 17 47751410 47751410 single base substitution G A intron_variant BRCA-EU 17 47751510 47751510 deletion of <=200bp A - intron_variant BRCA-EU 17 47751635 47751635 single base substitution G C intron_variant BRCA-EU 17 47751766 47751766 single base substitution C T intron_variant BRCA-EU 17 47752263 47752263 single base substitution C G intron_variant BRCA-EU 17 47753882 47753882 single base substitution A G intron_variant BRCA-EU 17 47753884 47753884 single base substitution G A intron_variant BRCA-EU 17 47753993 47753993 deletion of <=200bp A - intron_variant BRCA-EU 17 47753999 47753999 single base substitution T A intron_variant BRCA-EU 17 47754062 47754062 single base substitution A C intron_variant BRCA-EU 17 47754422 47754422 single base substitution A G intron_variant BRCA-EU 17 47754543 47754543 single base substitution T A intron_variant BRCA-EU 17 47757949 47757949 single base substitution G A upstream_gene_variant BRCA-EU 17 47759960 47759960 single base substitution A C upstream_gene_variant BRCA-EU 17 47760147 47760147 single base substitution C A upstream_gene_variant BRCA-FR 17 47677448 47677448 single base substitution C T 3_prime_UTR_variant BRCA-FR 17 47677448 47677448 single base substitution C T downstream_gene_variant BRCA-FR 17 47677448 47677448 single base substitution C T exon_variant BRCA-FR 17 47678290 47678290 single base substitution C A exon_variant BRCA-FR 17 47678290 47678290 single base substitution C A intron_variant BRCA-FR 17 47678460 47678460 single base substitution C G exon_variant BRCA-FR 17 47678460 47678460 single base substitution C G intron_variant BRCA-FR 17 47678586 47678586 single base substitution C A exon_variant BRCA-FR 17 47678586 47678586 single base substitution C A intron_variant BRCA-FR 17 47678818 47678818 single base substitution C G exon_variant BRCA-FR 17 47678818 47678818 single base substitution C G intron_variant BRCA-FR 17 47679187 47679187 single base substitution C G exon_variant BRCA-FR 17 47679187 47679187 single base substitution C G intron_variant BRCA-FR 17 47679187 47679187 single base substitution C G upstream_gene_variant BRCA-FR 17 47679838 47679838 single base substitution C G downstream_gene_variant BRCA-FR 17 47679838 47679838 single base substitution C G intron_variant BRCA-FR 17 47679838 47679838 single base substitution C G upstream_gene_variant BRCA-FR 17 47681021 47681021 single base substitution G A downstream_gene_variant BRCA-FR 17 47681021 47681021 single base substitution G A intron_variant BRCA-FR 17 47681021 47681021 single base substitution G A upstream_gene_variant BRCA-FR 17 47684977 47684977 single base substitution C G downstream_gene_variant BRCA-FR 17 47684977 47684977 single base substitution C G intron_variant BRCA-FR 17 47689137 47689137 single base substitution G A intron_variant BRCA-FR 17 47689137 47689137 single base substitution G A upstream_gene_variant BRCA-FR 17 47689232 47689232 single base substitution G C intron_variant BRCA-FR 17 47689232 47689232 single base substitution G C upstream_gene_variant BRCA-FR 17 47694167 47694167 single base substitution A G downstream_gene_variant BRCA-FR 17 47694167 47694167 single base substitution A G intron_variant BRCA-FR 17 47696826 47696826 single base substitution G C downstream_gene_variant BRCA-FR 17 47696826 47696826 single base substitution G C intron_variant BRCA-FR 17 47696826 47696826 single base substitution G C upstream_gene_variant BRCA-FR 17 47708960 47708960 single base substitution C G intron_variant BRCA-FR 17 47714485 47714485 single base substitution G C intron_variant BRCA-FR 17 47718167 47718167 single base substitution T G intron_variant BRCA-FR 17 47722998 47722998 single base substitution G C intron_variant BRCA-FR 17 47723433 47723433 single base substitution G C intron_variant BRCA-FR 17 47732146 47732146 single base substitution C G intron_variant BRCA-FR 17 47733918 47733918 single base substitution C G intron_variant BRCA-FR 17 47739279 47739279 single base substitution G A intron_variant BRCA-FR 17 47743948 47743948 single base substitution G C intron_variant BRCA-FR 17 47743955 47743955 single base substitution C A intron_variant BRCA-FR 17 47744325 47744325 single base substitution G A intron_variant BRCA-FR 17 47744669 47744669 single base substitution A G intron_variant BRCA-FR 17 47753884 47753884 single base substitution G A intron_variant BRCA-FR 17 47754543 47754543 single base substitution T A intron_variant BRCA-FR 17 47760472 47760472 single base substitution T G upstream_gene_variant BRCA-KR 17 47696336 47696336 single base substitution G A downstream_gene_variant BRCA-KR 17 47696336 47696336 single base substitution G A splice_region_variant BRCA-UK 17 47686157 47686157 single base substitution G C downstream_gene_variant BRCA-UK 17 47686157 47686157 single base substitution G C intron_variant BRCA-UK 17 47697725 47697725 single base substitution G T downstream_gene_variant BRCA-UK 17 47697725 47697725 single base substitution G T intron_variant BRCA-UK 17 47697725 47697725 single base substitution G T upstream_gene_variant BRCA-UK 17 47698832 47698832 single base substitution C G downstream_gene_variant BRCA-UK 17 47698832 47698832 single base substitution C G intron_variant BRCA-UK 17 47698832 47698832 single base substitution C G upstream_gene_variant BRCA-UK 17 47699925 47699925 single base substitution C T exon_variant BRCA-UK 17 47699925 47699925 single base substitution C T intron_variant BRCA-UK 17 47699925 47699925 single base substitution C T upstream_gene_variant BRCA-UK 17 47719375 47719375 single base substitution G A intron_variant BRCA-US 17 47688699 47688699 single base substitution C G 3_prime_UTR_variant BRCA-US 17 47688699 47688699 single base substitution C G downstream_gene_variant BRCA-US 17 47688699 47688699 single base substitution C G missense_variant D201H 601G>C BRCA-US 17 47688699 47688699 single base substitution C G upstream_gene_variant BRCA-US 17 47688736 47688736 deletion of <=200bp A - 3_prime_UTR_variant BRCA-US 17 47688736 47688736 deletion of <=200bp A - downstream_gene_variant BRCA-US 17 47688736 47688736 deletion of <=200bp A - frameshift_variant D188 BRCA-US 17 47688736 47688736 deletion of <=200bp A - upstream_gene_variant BRCA-US 17 47696471 47696471 single base substitution C T downstream_gene_variant BRCA-US 17 47696471 47696471 single base substitution C T splice_acceptor_variant BRCA-US 17 47699344 47699344 single base substitution G C 3_prime_UTR_variant BRCA-US 17 47699344 47699344 single base substitution G C downstream_gene_variant BRCA-US 17 47699344 47699344 single base substitution G C exon_variant BRCA-US 17 47699344 47699344 single base substitution G C missense_variant S55C 164C>G BRCA-US 17 47699344 47699344 single base substitution G C upstream_gene_variant BRCA-US 17 47700145 47700145 single base substitution G T exon_variant BRCA-US 17 47700145 47700145 single base substitution G T missense_variant P10T 28C>A BRCA-US 17 47700145 47700145 single base substitution G T upstream_gene_variant BTCA-JP 17 47696435 47696435 single base substitution C T 3_prime_UTR_variant BTCA-JP 17 47696435 47696435 single base substitution C T downstream_gene_variant BTCA-JP 17 47696435 47696435 single base substitution C T exon_variant BTCA-JP 17 47696435 47696435 single base substitution C T missense_variant D130N 388G>A BTCA-JP 17 47696482 47696482 insertion of <=200bp - A downstream_gene_variant BTCA-JP 17 47696482 47696482 insertion of <=200bp - A intron_variant BTCA-JP 17 47696710 47696710 single base substitution T G 3_prime_UTR_variant BTCA-JP 17 47696710 47696710 single base substitution T G downstream_gene_variant BTCA-JP 17 47696710 47696710 single base substitution T G exon_variant BTCA-JP 17 47696710 47696710 single base substitution T G missense_variant S80R 238A>C BTCA-JP 17 47696710 47696710 single base substitution T G upstream_gene_variant CESC-US 17 47696599 47696599 single base substitution T C 3_prime_UTR_variant CESC-US 17 47696599 47696599 single base substitution T C downstream_gene_variant CESC-US 17 47696599 47696599 single base substitution T C exon_variant CESC-US 17 47696599 47696599 single base substitution T C missense_variant M117V 349A>G CESC-US 17 47755313 47755313 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant CESC-US 17 47755313 47755313 single base substitution G A exon_variant CLLE-ES 17 47677199 47677199 single base substitution T C 3_prime_UTR_variant CLLE-ES 17 47677199 47677199 single base substitution T C downstream_gene_variant CLLE-ES 17 47677199 47677199 single base substitution T C exon_variant CLLE-ES 17 47677592 47677592 single base substitution G T 3_prime_UTR_variant CLLE-ES 17 47677592 47677592 single base substitution G T downstream_gene_variant CLLE-ES 17 47677592 47677592 single base substitution G T exon_variant CLLE-ES 17 47686668 47686668 single base substitution T C downstream_gene_variant CLLE-ES 17 47686668 47686668 single base substitution T C intron_variant CLLE-ES 17 47701880 47701880 single base substitution C A intron_variant CLLE-ES 17 47721804 47721804 single base substitution C A intron_variant CLLE-ES 17 47731654 47731654 single base substitution T C intron_variant CLLE-ES 17 47737831 47737831 single base substitution C T intron_variant CLLE-ES 17 47743023 47743023 single base substitution C G intron_variant CLLE-ES 17 47758920 47758920 deletion of <=200bp C - upstream_gene_variant COCA-CN 17 47679214 47679214 single base substitution G T exon_variant COCA-CN 17 47679214 47679214 single base substitution G T intron_variant COCA-CN 17 47679214 47679214 single base substitution G T upstream_gene_variant COCA-CN 17 47688618 47688618 single base substitution A C downstream_gene_variant COCA-CN 17 47688618 47688618 single base substitution A C intron_variant COCA-CN 17 47696586 47696586 single base substitution G T downstream_gene_variant COCA-CN 17 47696586 47696586 single base substitution G T intron_variant ESAD-UK 17 47671581 47671581 insertion of <=200bp - TAT downstream_gene_variant ESAD-UK 17 47672556 47672556 single base substitution A G downstream_gene_variant ESAD-UK 17 47673444 47673444 single base substitution G A downstream_gene_variant ESAD-UK 17 47685715 47685715 single base substitution T A downstream_gene_variant ESAD-UK 17 47685715 47685715 single base substitution T A intron_variant ESAD-UK 17 47687307 47687307 single base substitution T A downstream_gene_variant ESAD-UK 17 47687307 47687307 single base substitution T A intron_variant ESAD-UK 17 47687463 47687463 single base substitution G C downstream_gene_variant ESAD-UK 17 47687463 47687463 single base substitution G C intron_variant ESAD-UK 17 47687594 47687594 single base substitution C T downstream_gene_variant ESAD-UK 17 47687594 47687594 single base substitution C T intron_variant ESAD-UK 17 47688215 47688215 single base substitution G T downstream_gene_variant ESAD-UK 17 47688215 47688215 single base substitution G T intron_variant ESAD-UK 17 47690142 47690142 single base substitution T C intron_variant ESAD-UK 17 47690142 47690142 single base substitution T C splice_region_variant ESAD-UK 17 47690142 47690142 single base substitution T C upstream_gene_variant ESAD-UK 17 47693624 47693624 single base substitution A G downstream_gene_variant ESAD-UK 17 47693624 47693624 single base substitution A G intron_variant ESAD-UK 17 47693624 47693624 single base substitution A G upstream_gene_variant ESAD-UK 17 47695170 47695170 single base substitution C A downstream_gene_variant ESAD-UK 17 47695170 47695170 single base substitution C A intron_variant ESAD-UK 17 47701682 47701683 deletion of <=200bp CG - intron_variant ESAD-UK 17 47701841 47701841 deletion of <=200bp T - intron_variant ESAD-UK 17 47706505 47706505 single base substitution G A intron_variant ESAD-UK 17 47713285 47713285 single base substitution C T intron_variant ESAD-UK 17 47717516 47717516 single base substitution G A intron_variant ESAD-UK 17 47717597 47717598 deletion of <=200bp AG - intron_variant ESAD-UK 17 47717730 47717730 single base substitution T A intron_variant ESAD-UK 17 47719048 47719048 single base substitution A C intron_variant ESAD-UK 17 47721549 47721549 single base substitution G A intron_variant ESAD-UK 17 47723132 47723132 single base substitution T C intron_variant ESAD-UK 17 47726013 47726013 deletion of <=200bp G - intron_variant ESAD-UK 17 47726013 47726013 deletion of <=200bp G - upstream_gene_variant ESAD-UK 17 47733181 47733181 single base substitution T A intron_variant ESAD-UK 17 47733393 47733393 single base substitution C T intron_variant ESAD-UK 17 47734052 47734052 single base substitution A G intron_variant ESAD-UK 17 47734715 47734715 single base substitution A G intron_variant ESAD-UK 17 47734748 47734748 single base substitution G A intron_variant ESAD-UK 17 47735500 47735500 single base substitution G T intron_variant ESAD-UK 17 47741590 47741590 single base substitution A C intron_variant ESAD-UK 17 47744109 47744109 single base substitution G A intron_variant ESAD-UK 17 47744907 47744907 single base substitution C T intron_variant ESAD-UK 17 47750944 47750944 single base substitution C G intron_variant ESAD-UK 17 47752728 47752728 single base substitution G A intron_variant ESAD-UK 17 47756193 47756193 single base substitution C A upstream_gene_variant ESAD-UK 17 47757435 47757435 single base substitution G A upstream_gene_variant ESAD-UK 17 47758163 47758163 single base substitution A T upstream_gene_variant ESAD-UK 17 47760304 47760304 single base substitution G A upstream_gene_variant ESCA-CN 17 47676672 47676672 single base substitution C A 3_prime_UTR_variant ESCA-CN 17 47676672 47676672 single base substitution C A downstream_gene_variant LAML-KR 17 47683115 47683115 single base substitution A T downstream_gene_variant LAML-KR 17 47683115 47683115 single base substitution A T intron_variant LAML-KR 17 47683115 47683115 single base substitution A T upstream_gene_variant LAML-KR 17 47699975 47699975 single base substitution C G exon_variant LAML-KR 17 47699975 47699975 single base substitution C G intron_variant LAML-KR 17 47699975 47699975 single base substitution C G upstream_gene_variant LGG-US 17 47688719 47688719 single base substitution C A 3_prime_UTR_variant LGG-US 17 47688719 47688719 single base substitution C A downstream_gene_variant LGG-US 17 47688719 47688719 single base substitution C A missense_variant W194L 581G>T LGG-US 17 47688719 47688719 single base substitution C A upstream_gene_variant LGG-US 17 47688737 47688737 single base substitution T G 3_prime_UTR_variant LGG-US 17 47688737 47688737 single base substitution T G downstream_gene_variant LGG-US 17 47688737 47688737 single base substitution T G missense_variant D188A 563A>C LGG-US 17 47688737 47688737 single base substitution T G upstream_gene_variant LICA-CN 17 47688743 47688743 single base substitution A G 3_prime_UTR_variant LICA-CN 17 47688743 47688743 single base substitution A G missense_variant L186P 557T>C LICA-CN 17 47688743 47688743 single base substitution A G synonymous_variant ?186 LICA-CN 17 47688743 47688743 single base substitution A G upstream_gene_variant LICA-CN 17 47696366 47696366 single base substitution C A 3_prime_UTR_variant LICA-CN 17 47696366 47696366 single base substitution C A downstream_gene_variant LICA-CN 17 47696366 47696366 single base substitution C A exon_variant LICA-CN 17 47696366 47696366 single base substitution C A missense_variant D153Y 457G>T LICA-FR 17 47688692 47688692 single base substitution C T 3_prime_UTR_variant LICA-FR 17 47688692 47688692 single base substitution C T downstream_gene_variant LICA-FR 17 47688692 47688692 single base substitution C T missense_variant C203Y 608G>A LICA-FR 17 47688692 47688692 single base substitution C T upstream_gene_variant LICA-FR 17 47689365 47689365 single base substitution C T intron_variant LICA-FR 17 47689365 47689365 single base substitution C T upstream_gene_variant LICA-FR 17 47696415 47696415 single base substitution G C 3_prime_UTR_variant LICA-FR 17 47696415 47696415 single base substitution G C downstream_gene_variant LICA-FR 17 47696415 47696415 single base substitution G C exon_variant LICA-FR 17 47696415 47696415 single base substitution G C missense_variant F136L 408C>G LICA-FR 17 47705107 47705107 single base substitution A G intron_variant LICA-FR 17 47741748 47741748 deletion of <=200bp A - intron_variant LICA-FR 17 47745363 47745363 single base substitution T C intron_variant LIHC-US 17 47677798 47677798 single base substitution A T exon_variant LIHC-US 17 47677798 47677798 single base substitution A T missense_variant L356Q 1067T>A LIHC-US 17 47679227 47679227 single base substitution T C exon_variant LIHC-US 17 47679227 47679227 single base substitution T C missense_variant Y327C 980A>G LIHC-US 17 47679227 47679227 single base substitution T C splice_region_variant LIHC-US 17 47679227 47679227 single base substitution T C upstream_gene_variant LIHC-US 17 47684733 47684733 single base substitution T C downstream_gene_variant LIHC-US 17 47684733 47684733 single base substitution T C missense_variant N239S 716A>G LIHC-US 17 47684733 47684733 single base substitution T C splice_region_variant LIHC-US 17 47684733 47684733 single base substitution T C upstream_gene_variant LIHC-US 17 47699405 47699405 single base substitution T A 3_prime_UTR_variant LIHC-US 17 47699405 47699405 single base substitution T A downstream_gene_variant LIHC-US 17 47699405 47699405 single base substitution T A exon_variant LIHC-US 17 47699405 47699405 single base substitution T A missense_variant M35L 103A>T LIHC-US 17 47699405 47699405 single base substitution T A upstream_gene_variant LINC-JP 17 47675663 47675663 single base substitution T A downstream_gene_variant LINC-JP 17 47688365 47688365 single base substitution C G downstream_gene_variant LINC-JP 17 47688365 47688365 single base substitution C G intron_variant LINC-JP 17 47693097 47693097 single base substitution C T downstream_gene_variant LINC-JP 17 47693097 47693097 single base substitution C T intron_variant LINC-JP 17 47693097 47693097 single base substitution C T upstream_gene_variant LINC-JP 17 47706132 47706132 single base substitution T C intron_variant LINC-JP 17 47717253 47717253 single base substitution C T intron_variant LINC-JP 17 47721164 47721164 single base substitution T G intron_variant LINC-JP 17 47743489 47743489 single base substitution A T intron_variant LINC-JP 17 47744656 47744656 deletion of <=200bp A - intron_variant LIRI-JP 17 47671391 47671391 single base substitution T C downstream_gene_variant LIRI-JP 17 47671513 47671513 single base substitution T C downstream_gene_variant LIRI-JP 17 47672313 47672313 single base substitution G C downstream_gene_variant LIRI-JP 17 47673317 47673317 single base substitution C A downstream_gene_variant LIRI-JP 17 47675405 47675405 single base substitution T A downstream_gene_variant LIRI-JP 17 47675415 47675415 single base substitution T C downstream_gene_variant LIRI-JP 17 47677222 47677222 single base substitution T C 3_prime_UTR_variant LIRI-JP 17 47677222 47677222 single base substitution T C downstream_gene_variant LIRI-JP 17 47677222 47677222 single base substitution T C exon_variant LIRI-JP 17 47679407 47679407 single base substitution T C exon_variant LIRI-JP 17 47679407 47679407 single base substitution T C intron_variant LIRI-JP 17 47679407 47679407 single base substitution T C upstream_gene_variant LIRI-JP 17 47679766 47679766 single base substitution C T downstream_gene_variant LIRI-JP 17 47679766 47679766 single base substitution C T intron_variant LIRI-JP 17 47679766 47679766 single base substitution C T upstream_gene_variant LIRI-JP 17 47682207 47682207 single base substitution C T downstream_gene_variant LIRI-JP 17 47682207 47682207 single base substitution C T intron_variant LIRI-JP 17 47682207 47682207 single base substitution C T upstream_gene_variant LIRI-JP 17 47682571 47682571 single base substitution T C downstream_gene_variant LIRI-JP 17 47682571 47682571 single base substitution T C intron_variant LIRI-JP 17 47682571 47682571 single base substitution T C upstream_gene_variant LIRI-JP 17 47683974 47683974 single base substitution G T downstream_gene_variant LIRI-JP 17 47683974 47683974 single base substitution G T intron_variant LIRI-JP 17 47683974 47683974 single base substitution G T upstream_gene_variant LIRI-JP 17 47684860 47684860 single base substitution G A downstream_gene_variant LIRI-JP 17 47684860 47684860 single base substitution G A intron_variant LIRI-JP 17 47687096 47687096 single base substitution T C downstream_gene_variant LIRI-JP 17 47687096 47687096 single base substitution T C intron_variant LIRI-JP 17 47687203 47687203 single base substitution T C downstream_gene_variant LIRI-JP 17 47687203 47687203 single base substitution T C intron_variant LIRI-JP 17 47689504 47689504 single base substitution C T intron_variant LIRI-JP 17 47689504 47689504 single base substitution C T upstream_gene_variant LIRI-JP 17 47689698 47689698 single base substitution G A intron_variant LIRI-JP 17 47689698 47689698 single base substitution G A upstream_gene_variant LIRI-JP 17 47691119 47691119 single base substitution T C intron_variant LIRI-JP 17 47691119 47691119 single base substitution T C upstream_gene_variant LIRI-JP 17 47692208 47692208 single base substitution T A downstream_gene_variant LIRI-JP 17 47692208 47692208 single base substitution T A intron_variant LIRI-JP 17 47692208 47692208 single base substitution T A upstream_gene_variant LIRI-JP 17 47693075 47693075 single base substitution G T downstream_gene_variant LIRI-JP 17 47693075 47693075 single base substitution G T intron_variant LIRI-JP 17 47693075 47693075 single base substitution G T upstream_gene_variant LIRI-JP 17 47694398 47694398 single base substitution T A downstream_gene_variant LIRI-JP 17 47694398 47694398 single base substitution T A intron_variant LIRI-JP 17 47694567 47694567 single base substitution T C downstream_gene_variant LIRI-JP 17 47694567 47694567 single base substitution T C intron_variant LIRI-JP 17 47702983 47702983 single base substitution A G intron_variant LIRI-JP 17 47703004 47703004 single base substitution C T intron_variant LIRI-JP 17 47703061 47703061 single base substitution T C intron_variant LIRI-JP 17 47704954 47704954 single base substitution G A intron_variant LIRI-JP 17 47704986 47704986 single base substitution T G intron_variant LIRI-JP 17 47705861 47705861 insertion of <=200bp - A intron_variant LIRI-JP 17 47706776 47706776 single base substitution T C intron_variant LIRI-JP 17 47707128 47707128 single base substitution A T intron_variant LIRI-JP 17 47709534 47709534 single base substitution G A intron_variant LIRI-JP 17 47712368 47712368 single base substitution G C intron_variant LIRI-JP 17 47712402 47712402 single base substitution T C intron_variant LIRI-JP 17 47717019 47717019 single base substitution T C intron_variant LIRI-JP 17 47721225 47721225 single base substitution G A intron_variant LIRI-JP 17 47721847 47721847 single base substitution T G intron_variant LIRI-JP 17 47725045 47725045 single base substitution G T intron_variant LIRI-JP 17 47725045 47725045 single base substitution G T upstream_gene_variant LIRI-JP 17 47728020 47728020 single base substitution C A intron_variant LIRI-JP 17 47728020 47728020 single base substitution C A upstream_gene_variant LIRI-JP 17 47728501 47728501 single base substitution A G intron_variant LIRI-JP 17 47728501 47728501 single base substitution A G upstream_gene_variant LIRI-JP 17 47734036 47734036 single base substitution T C intron_variant LIRI-JP 17 47734736 47734736 single base substitution T C intron_variant LIRI-JP 17 47735410 47735410 single base substitution T C intron_variant LIRI-JP 17 47736272 47736272 single base substitution T C intron_variant LIRI-JP 17 47736757 47736757 single base substitution G A intron_variant LIRI-JP 17 47737069 47737069 single base substitution T C intron_variant LIRI-JP 17 47738860 47738860 single base substitution T A intron_variant LIRI-JP 17 47739032 47739032 single base substitution T C intron_variant LIRI-JP 17 47740458 47740458 single base substitution C T intron_variant LIRI-JP 17 47742303 47742303 single base substitution A C intron_variant LIRI-JP 17 47745113 47745113 single base substitution T C intron_variant LIRI-JP 17 47745662 47745662 single base substitution G A intron_variant LIRI-JP 17 47747616 47747616 single base substitution G A intron_variant LIRI-JP 17 47749851 47749851 single base substitution G A intron_variant LIRI-JP 17 47750786 47750786 single base substitution T C intron_variant LIRI-JP 17 47750903 47750903 single base substitution T C intron_variant LIRI-JP 17 47751457 47751457 single base substitution C G intron_variant LIRI-JP 17 47755515 47755515 single base substitution G T 5_prime_UTR_variant LIRI-JP 17 47755515 47755515 single base substitution G T upstream_gene_variant LIRI-JP 17 47757933 47757933 single base substitution T C upstream_gene_variant LIRI-JP 17 47759982 47759982 single base substitution A G upstream_gene_variant LIRI-JP 17 47760097 47760097 single base substitution G A upstream_gene_variant LIRI-JP 17 47760124 47760124 single base substitution A G upstream_gene_variant LUSC-KR 17 47673720 47673720 single base substitution T G downstream_gene_variant LUSC-KR 17 47674532 47674532 single base substitution C A downstream_gene_variant LUSC-KR 17 47676902 47676902 single base substitution T G 3_prime_UTR_variant LUSC-KR 17 47676902 47676902 single base substitution T G downstream_gene_variant LUSC-KR 17 47676902 47676902 single base substitution T G exon_variant LUSC-KR 17 47683013 47683013 single base substitution C T downstream_gene_variant LUSC-KR 17 47683013 47683013 single base substitution C T intron_variant LUSC-KR 17 47683013 47683013 single base substitution C T upstream_gene_variant LUSC-KR 17 47684757 47684757 single base substitution G C downstream_gene_variant LUSC-KR 17 47684757 47684757 single base substitution G C intron_variant LUSC-KR 17 47684757 47684757 single base substitution G C upstream_gene_variant LUSC-KR 17 47685050 47685050 single base substitution T G downstream_gene_variant LUSC-KR 17 47685050 47685050 single base substitution T G intron_variant LUSC-KR 17 47690972 47690972 single base substitution A G intron_variant LUSC-KR 17 47690972 47690972 single base substitution A G upstream_gene_variant LUSC-KR 17 47693031 47693031 single base substitution C A downstream_gene_variant LUSC-KR 17 47693031 47693031 single base substitution C A intron_variant LUSC-KR 17 47693031 47693031 single base substitution C A upstream_gene_variant LUSC-KR 17 47693311 47693311 single base substitution G C downstream_gene_variant LUSC-KR 17 47693311 47693311 single base substitution G C intron_variant LUSC-KR 17 47693311 47693311 single base substitution G C upstream_gene_variant LUSC-KR 17 47697348 47697348 single base substitution C T downstream_gene_variant LUSC-KR 17 47697348 47697348 single base substitution C T intron_variant LUSC-KR 17 47697348 47697348 single base substitution C T upstream_gene_variant LUSC-KR 17 47704397 47704397 single base substitution G A intron_variant LUSC-KR 17 47706395 47706395 single base substitution G A intron_variant LUSC-KR 17 47715442 47715442 single base substitution G A intron_variant LUSC-KR 17 47716689 47716689 single base substitution C A intron_variant LUSC-KR 17 47718760 47718760 single base substitution C G intron_variant LUSC-KR 17 47726221 47726221 single base substitution G T intron_variant LUSC-KR 17 47726221 47726221 single base substitution G T upstream_gene_variant LUSC-KR 17 47734269 47734269 single base substitution C T intron_variant LUSC-KR 17 47744645 47744645 single base substitution T A intron_variant LUSC-KR 17 47751545 47751545 single base substitution C T intron_variant LUSC-KR 17 47754861 47754861 single base substitution G A intron_variant LUSC-KR 17 47755835 47755835 single base substitution G A upstream_gene_variant LUSC-US 17 47688717 47688717 single base substitution C A 3_prime_UTR_variant LUSC-US 17 47688717 47688717 single base substitution C A downstream_gene_variant LUSC-US 17 47688717 47688717 single base substitution C A stop_gained E195* 583G>T LUSC-US 17 47688717 47688717 single base substitution C A upstream_gene_variant MALY-DE 17 47683947 47683947 single base substitution C T downstream_gene_variant MALY-DE 17 47683947 47683947 single base substitution C T intron_variant MALY-DE 17 47683947 47683947 single base substitution C T upstream_gene_variant MALY-DE 17 47688691 47688691 single base substitution G T 3_prime_UTR_variant MALY-DE 17 47688691 47688691 single base substitution G T downstream_gene_variant MALY-DE 17 47688691 47688691 single base substitution G T stop_gained C203* 609C>A MALY-DE 17 47688691 47688691 single base substitution G T upstream_gene_variant MALY-DE 17 47690648 47690648 single base substitution A G intron_variant MALY-DE 17 47690648 47690648 single base substitution A G upstream_gene_variant MALY-DE 17 47693167 47693167 single base substitution A G downstream_gene_variant MALY-DE 17 47693167 47693167 single base substitution A G intron_variant MALY-DE 17 47693167 47693167 single base substitution A G upstream_gene_variant MALY-DE 17 47696597 47696597 single base substitution C T downstream_gene_variant MALY-DE 17 47696597 47696597 single base substitution C T missense_variant M117I 351G>A MALY-DE 17 47696597 47696597 single base substitution C T splice_region_variant MALY-DE 17 47696598 47696598 single base substitution A C downstream_gene_variant MALY-DE 17 47696598 47696598 single base substitution A C missense_variant M117R 350T>G MALY-DE 17 47696598 47696598 single base substitution A C splice_region_variant MALY-DE 17 47696724 47696724 single base substitution C A 3_prime_UTR_variant MALY-DE 17 47696724 47696724 single base substitution C A downstream_gene_variant MALY-DE 17 47696724 47696724 single base substitution C A exon_variant MALY-DE 17 47696724 47696724 single base substitution C A missense_variant G75V 224G>T MALY-DE 17 47696724 47696724 single base substitution C A upstream_gene_variant MALY-DE 17 47712291 47712291 single base substitution T G intron_variant MALY-DE 17 47719626 47719626 insertion of <=200bp - A intron_variant MALY-DE 17 47719741 47719741 single base substitution C T intron_variant MALY-DE 17 47723372 47723372 single base substitution A G intron_variant MALY-DE 17 47751148 47751148 single base substitution T A intron_variant MALY-DE 17 47753461 47753461 single base substitution G A intron_variant MALY-DE 17 47757674 47757674 single base substitution A G upstream_gene_variant MALY-DE 17 47757725 47757726 deletion of <=200bp AC - upstream_gene_variant MELA-AU 17 47671395 47671395 single base substitution G A downstream_gene_variant MELA-AU 17 47671588 47671588 single base substitution A G downstream_gene_variant MELA-AU 17 47671888 47671888 single base substitution G A downstream_gene_variant MELA-AU 17 47672154 47672154 single base substitution G A downstream_gene_variant MELA-AU 17 47672311 47672311 single base substitution G A downstream_gene_variant MELA-AU 17 47672721 47672721 single base substitution G A downstream_gene_variant MELA-AU 17 47672919 47672919 single base substitution G A downstream_gene_variant MELA-AU 17 47673516 47673516 single base substitution T G downstream_gene_variant MELA-AU 17 47673553 47673553 single base substitution G A downstream_gene_variant MELA-AU 17 47674192 47674192 single base substitution G A downstream_gene_variant MELA-AU 17 47674328 47674328 single base substitution G A downstream_gene_variant MELA-AU 17 47674767 47674767 single base substitution G A downstream_gene_variant MELA-AU 17 47674824 47674824 single base substitution G A downstream_gene_variant MELA-AU 17 47674829 47674829 single base substitution G A downstream_gene_variant MELA-AU 17 47675072 47675072 single base substitution G A downstream_gene_variant MELA-AU 17 47675750 47675750 single base substitution G A downstream_gene_variant MELA-AU 17 47676020 47676020 single base substitution A T downstream_gene_variant MELA-AU 17 47676059 47676059 single base substitution G A downstream_gene_variant MELA-AU 17 47676427 47676427 single base substitution C G 3_prime_UTR_variant MELA-AU 17 47676427 47676427 single base substitution C G downstream_gene_variant MELA-AU 17 47676497 47676497 single base substitution G A 3_prime_UTR_variant MELA-AU 17 47676497 47676497 single base substitution G A downstream_gene_variant MELA-AU 17 47676709 47676709 single base substitution G A 3_prime_UTR_variant MELA-AU 17 47676709 47676709 single base substitution G A downstream_gene_variant MELA-AU 17 47677306 47677306 single base substitution G A 3_prime_UTR_variant MELA-AU 17 47677306 47677306 single base substitution G A downstream_gene_variant MELA-AU 17 47677306 47677306 single base substitution G A exon_variant MELA-AU 17 47677519 47677519 single base substitution G A 3_prime_UTR_variant MELA-AU 17 47677519 47677519 single base substitution G A downstream_gene_variant MELA-AU 17 47677519 47677519 single base substitution G A exon_variant MELA-AU 17 47677559 47677559 single base substitution C T 3_prime_UTR_variant MELA-AU 17 47677559 47677559 single base substitution C T downstream_gene_variant MELA-AU 17 47677559 47677559 single base substitution C T exon_variant MELA-AU 17 47677638 47677638 single base substitution G A 3_prime_UTR_variant MELA-AU 17 47677638 47677638 single base substitution G A downstream_gene_variant MELA-AU 17 47677638 47677638 single base substitution G A exon_variant MELA-AU 17 47677743 47677743 single base substitution G A exon_variant MELA-AU 17 47677743 47677743 single base substitution G A synonymous_variant S374S 1122C>T MELA-AU 17 47678390 47678390 single base substitution G A exon_variant MELA-AU 17 47678390 47678390 single base substitution G A intron_variant MELA-AU 17 47680430 47680430 single base substitution G A downstream_gene_variant MELA-AU 17 47680430 47680430 single base substitution G A intron_variant MELA-AU 17 47680430 47680430 single base substitution G A upstream_gene_variant MELA-AU 17 47681021 47681021 single base substitution G T downstream_gene_variant MELA-AU 17 47681021 47681021 single base substitution G T intron_variant MELA-AU 17 47681021 47681021 single base substitution G T upstream_gene_variant MELA-AU 17 47681313 47681313 single base substitution T C downstream_gene_variant MELA-AU 17 47681313 47681313 single base substitution T C intron_variant MELA-AU 17 47681313 47681313 single base substitution T C upstream_gene_variant MELA-AU 17 47681433 47681433 single base substitution G A downstream_gene_variant MELA-AU 17 47681433 47681433 single base substitution G A intron_variant MELA-AU 17 47681433 47681433 single base substitution G A upstream_gene_variant MELA-AU 17 47681855 47681855 single base substitution G A downstream_gene_variant MELA-AU 17 47681855 47681855 single base substitution G A intron_variant MELA-AU 17 47681855 47681855 single base substitution G A upstream_gene_variant MELA-AU 17 47682066 47682066 single base substitution G A downstream_gene_variant MELA-AU 17 47682066 47682066 single base substitution G A intron_variant MELA-AU 17 47682066 47682066 single base substitution G A upstream_gene_variant MELA-AU 17 47682978 47682978 single base substitution G A downstream_gene_variant MELA-AU 17 47682978 47682978 single base substitution G A intron_variant MELA-AU 17 47682978 47682978 single base substitution G A upstream_gene_variant MELA-AU 17 47683258 47683258 single base substitution G A downstream_gene_variant MELA-AU 17 47683258 47683258 single base substitution G A intron_variant MELA-AU 17 47683258 47683258 single base substitution G A upstream_gene_variant MELA-AU 17 47683380 47683380 single base substitution A G downstream_gene_variant MELA-AU 17 47683380 47683380 single base substitution A G intron_variant MELA-AU 17 47683380 47683380 single base substitution A G upstream_gene_variant MELA-AU 17 47683711 47683711 single base substitution G A downstream_gene_variant MELA-AU 17 47683711 47683711 single base substitution G A intron_variant MELA-AU 17 47683711 47683711 single base substitution G A upstream_gene_variant MELA-AU 17 47683919 47683919 single base substitution G A downstream_gene_variant MELA-AU 17 47683919 47683919 single base substitution G A intron_variant MELA-AU 17 47683919 47683919 single base substitution G A upstream_gene_variant MELA-AU 17 47684908 47684908 single base substitution A T downstream_gene_variant MELA-AU 17 47684908 47684908 single base substitution A T intron_variant MELA-AU 17 47685153 47685153 single base substitution G A downstream_gene_variant MELA-AU 17 47685153 47685153 single base substitution G A intron_variant MELA-AU 17 47685363 47685363 single base substitution G A downstream_gene_variant MELA-AU 17 47685363 47685363 single base substitution G A intron_variant MELA-AU 17 47685366 47685366 single base substitution G C downstream_gene_variant MELA-AU 17 47685366 47685366 single base substitution G C intron_variant MELA-AU 17 47685488 47685488 single base substitution G A downstream_gene_variant MELA-AU 17 47685488 47685488 single base substitution G A intron_variant MELA-AU 17 47686648 47686648 single base substitution G A downstream_gene_variant MELA-AU 17 47686648 47686648 single base substitution G A intron_variant MELA-AU 17 47686929 47686929 single base substitution G A downstream_gene_variant MELA-AU 17 47686929 47686929 single base substitution G A intron_variant MELA-AU 17 47687006 47687006 single base substitution G A downstream_gene_variant MELA-AU 17 47687006 47687006 single base substitution G A intron_variant MELA-AU 17 47687050 47687050 single base substitution G T downstream_gene_variant MELA-AU 17 47687050 47687050 single base substitution G T intron_variant MELA-AU 17 47687262 47687262 single base substitution G A downstream_gene_variant MELA-AU 17 47687262 47687262 single base substitution G A intron_variant MELA-AU 17 47687361 47687361 single base substitution G A downstream_gene_variant MELA-AU 17 47687361 47687361 single base substitution G A intron_variant MELA-AU 17 47687369 47687369 single base substitution G A downstream_gene_variant MELA-AU 17 47687369 47687369 single base substitution G A intron_variant MELA-AU 17 47687405 47687405 single base substitution G A downstream_gene_variant MELA-AU 17 47687405 47687405 single base substitution G A intron_variant MELA-AU 17 47687486 47687486 single base substitution G A downstream_gene_variant MELA-AU 17 47687486 47687486 single base substitution G A intron_variant MELA-AU 17 47688502 47688503 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 17 47688502 47688503 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 47689995 47689995 single base substitution T C intron_variant MELA-AU 17 47689995 47689995 single base substitution T C upstream_gene_variant MELA-AU 17 47690474 47690474 single base substitution G A intron_variant MELA-AU 17 47690474 47690474 single base substitution G A upstream_gene_variant MELA-AU 17 47691250 47691250 single base substitution A T intron_variant MELA-AU 17 47691250 47691250 single base substitution A T upstream_gene_variant MELA-AU 17 47691300 47691300 single base substitution T A intron_variant MELA-AU 17 47691300 47691300 single base substitution T A upstream_gene_variant MELA-AU 17 47692841 47692841 single base substitution C T downstream_gene_variant MELA-AU 17 47692841 47692841 single base substitution C T intron_variant MELA-AU 17 47692841 47692841 single base substitution C T upstream_gene_variant MELA-AU 17 47693520 47693520 single base substitution C A downstream_gene_variant MELA-AU 17 47693520 47693520 single base substitution C A intron_variant MELA-AU 17 47693520 47693520 single base substitution C A upstream_gene_variant MELA-AU 17 47693612 47693612 single base substitution C G downstream_gene_variant MELA-AU 17 47693612 47693612 single base substitution C G intron_variant MELA-AU 17 47693612 47693612 single base substitution C G upstream_gene_variant MELA-AU 17 47695110 47695110 single base substitution A G downstream_gene_variant MELA-AU 17 47695110 47695110 single base substitution A G intron_variant MELA-AU 17 47695308 47695308 single base substitution A T downstream_gene_variant MELA-AU 17 47695308 47695308 single base substitution A T intron_variant MELA-AU 17 47695499 47695499 single base substitution G A downstream_gene_variant MELA-AU 17 47695499 47695499 single base substitution G A intron_variant MELA-AU 17 47695746 47695746 single base substitution G A downstream_gene_variant MELA-AU 17 47695746 47695746 single base substitution G A intron_variant MELA-AU 17 47696113 47696113 single base substitution G A downstream_gene_variant MELA-AU 17 47696113 47696113 single base substitution G A intron_variant MELA-AU 17 47696327 47696327 single base substitution G A downstream_gene_variant MELA-AU 17 47696327 47696327 single base substitution G A intron_variant MELA-AU 17 47696372 47696373 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 17 47696372 47696373 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 17 47696372 47696373 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 17 47696372 47696373 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant LP150LS MELA-AU 17 47696633 47696633 single base substitution G A 3_prime_UTR_variant MELA-AU 17 47696633 47696633 single base substitution G A downstream_gene_variant MELA-AU 17 47696633 47696633 single base substitution G A exon_variant MELA-AU 17 47696633 47696633 single base substitution G A synonymous_variant S105S 315C>T MELA-AU 17 47696960 47696960 single base substitution T C downstream_gene_variant MELA-AU 17 47696960 47696960 single base substitution T C intron_variant MELA-AU 17 47696960 47696960 single base substitution T C upstream_gene_variant MELA-AU 17 47697281 47697281 single base substitution G A downstream_gene_variant MELA-AU 17 47697281 47697281 single base substitution G A intron_variant MELA-AU 17 47697281 47697281 single base substitution G A upstream_gene_variant MELA-AU 17 47697520 47697520 single base substitution G A downstream_gene_variant MELA-AU 17 47697520 47697520 single base substitution G A intron_variant MELA-AU 17 47697520 47697520 single base substitution G A upstream_gene_variant MELA-AU 17 47697545 47697545 single base substitution G A downstream_gene_variant MELA-AU 17 47697545 47697545 single base substitution G A intron_variant MELA-AU 17 47697545 47697545 single base substitution G A upstream_gene_variant MELA-AU 17 47699729 47699729 single base substitution G A downstream_gene_variant MELA-AU 17 47699729 47699729 single base substitution G A intron_variant MELA-AU 17 47699729 47699729 single base substitution G A upstream_gene_variant MELA-AU 17 47699913 47699913 single base substitution G A exon_variant MELA-AU 17 47699913 47699913 single base substitution G A intron_variant MELA-AU 17 47699913 47699913 single base substitution G A upstream_gene_variant MELA-AU 17 47700145 47700145 single base substitution G A exon_variant MELA-AU 17 47700145 47700145 single base substitution G A missense_variant P10S 28C>T MELA-AU 17 47700145 47700145 single base substitution G A upstream_gene_variant MELA-AU 17 47700372 47700372 single base substitution A T intron_variant MELA-AU 17 47700372 47700372 single base substitution A T upstream_gene_variant MELA-AU 17 47700432 47700432 single base substitution G A intron_variant MELA-AU 17 47700432 47700432 single base substitution G A upstream_gene_variant MELA-AU 17 47700876 47700876 single base substitution G A intron_variant MELA-AU 17 47700876 47700876 single base substitution G A upstream_gene_variant MELA-AU 17 47700893 47700893 single base substitution G A intron_variant MELA-AU 17 47700893 47700893 single base substitution G A upstream_gene_variant MELA-AU 17 47701570 47701570 single base substitution G A intron_variant MELA-AU 17 47701570 47701570 single base substitution G A upstream_gene_variant MELA-AU 17 47702139 47702139 single base substitution A G intron_variant MELA-AU 17 47702384 47702384 single base substitution G A intron_variant MELA-AU 17 47703395 47703395 single base substitution G A intron_variant MELA-AU 17 47703489 47703489 single base substitution G A intron_variant MELA-AU 17 47703738 47703738 single base substitution A C intron_variant MELA-AU 17 47703820 47703820 single base substitution G A intron_variant MELA-AU 17 47704039 47704039 single base substitution G A intron_variant MELA-AU 17 47704216 47704216 single base substitution G A intron_variant MELA-AU 17 47704804 47704804 single base substitution G A intron_variant MELA-AU 17 47705278 47705278 single base substitution G A intron_variant MELA-AU 17 47705427 47705427 single base substitution G A intron_variant MELA-AU 17 47705789 47705790 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 47705980 47705980 single base substitution C T intron_variant MELA-AU 17 47705984 47705984 single base substitution G A intron_variant MELA-AU 17 47706431 47706431 single base substitution C T intron_variant MELA-AU 17 47707206 47707206 single base substitution G A intron_variant MELA-AU 17 47707587 47707587 single base substitution T A intron_variant MELA-AU 17 47708189 47708189 single base substitution A G intron_variant MELA-AU 17 47708611 47708611 single base substitution A C intron_variant MELA-AU 17 47709534 47709534 single base substitution G A intron_variant MELA-AU 17 47709948 47709948 single base substitution G A intron_variant MELA-AU 17 47711114 47711114 single base substitution G A intron_variant MELA-AU 17 47711418 47711418 single base substitution C T intron_variant MELA-AU 17 47712066 47712066 single base substitution T C intron_variant MELA-AU 17 47712159 47712160 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 47712175 47712175 single base substitution G A intron_variant MELA-AU 17 47712533 47712533 single base substitution A G intron_variant MELA-AU 17 47713765 47713765 single base substitution C T intron_variant MELA-AU 17 47714258 47714258 single base substitution G A intron_variant MELA-AU 17 47714903 47714903 single base substitution G A intron_variant MELA-AU 17 47716158 47716158 single base substitution G T intron_variant MELA-AU 17 47716160 47716160 single base substitution G A intron_variant MELA-AU 17 47716437 47716437 single base substitution G A intron_variant MELA-AU 17 47716491 47716491 single base substitution C T intron_variant MELA-AU 17 47717860 47717860 single base substitution G A intron_variant MELA-AU 17 47718249 47718249 single base substitution G A intron_variant MELA-AU 17 47718351 47718351 single base substitution G A intron_variant MELA-AU 17 47718443 47718443 single base substitution G A intron_variant MELA-AU 17 47719190 47719190 single base substitution C T intron_variant MELA-AU 17 47719567 47719567 single base substitution G A intron_variant MELA-AU 17 47720152 47720153 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 47720664 47720664 single base substitution G A intron_variant MELA-AU 17 47720779 47720779 single base substitution G A intron_variant MELA-AU 17 47720991 47720991 single base substitution G A intron_variant MELA-AU 17 47721633 47721633 single base substitution G A intron_variant MELA-AU 17 47721806 47721806 single base substitution G A intron_variant MELA-AU 17 47721920 47721920 single base substitution G A intron_variant MELA-AU 17 47722009 47722009 single base substitution G A intron_variant MELA-AU 17 47722205 47722205 single base substitution A G intron_variant MELA-AU 17 47722538 47722538 single base substitution A G intron_variant MELA-AU 17 47722692 47722692 single base substitution C A intron_variant MELA-AU 17 47722703 47722703 single base substitution C T intron_variant MELA-AU 17 47723237 47723237 single base substitution G T intron_variant MELA-AU 17 47723952 47723952 single base substitution G A 5_prime_UTR_variant MELA-AU 17 47723952 47723952 single base substitution G A intron_variant MELA-AU 17 47724585 47724585 single base substitution G C intron_variant MELA-AU 17 47724585 47724585 single base substitution G C upstream_gene_variant MELA-AU 17 47725797 47725797 single base substitution A G intron_variant MELA-AU 17 47725797 47725797 single base substitution A G upstream_gene_variant MELA-AU 17 47726044 47726044 single base substitution C T intron_variant MELA-AU 17 47726044 47726044 single base substitution C T upstream_gene_variant MELA-AU 17 47726214 47726214 single base substitution G A intron_variant MELA-AU 17 47726214 47726214 single base substitution G A upstream_gene_variant MELA-AU 17 47726452 47726452 single base substitution A T intron_variant MELA-AU 17 47726452 47726452 single base substitution A T upstream_gene_variant MELA-AU 17 47726667 47726668 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 47726667 47726668 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 17 47726882 47726882 single base substitution G A intron_variant MELA-AU 17 47726882 47726882 single base substitution G A upstream_gene_variant MELA-AU 17 47727120 47727120 single base substitution G A intron_variant MELA-AU 17 47727120 47727120 single base substitution G A upstream_gene_variant MELA-AU 17 47727275 47727275 single base substitution G A intron_variant MELA-AU 17 47727275 47727275 single base substitution G A upstream_gene_variant MELA-AU 17 47727495 47727495 single base substitution C T intron_variant MELA-AU 17 47727495 47727495 single base substitution C T upstream_gene_variant MELA-AU 17 47727607 47727607 single base substitution G A intron_variant MELA-AU 17 47727607 47727607 single base substitution G A upstream_gene_variant MELA-AU 17 47727773 47727773 single base substitution C G intron_variant MELA-AU 17 47727773 47727773 single base substitution C G upstream_gene_variant MELA-AU 17 47729726 47729726 single base substitution G A intron_variant MELA-AU 17 47730537 47730537 single base substitution C T intron_variant MELA-AU 17 47731351 47731351 single base substitution C T intron_variant MELA-AU 17 47731923 47731923 single base substitution G A intron_variant MELA-AU 17 47732268 47732269 multiple base substitution (>=2bp and <=200bp) GT AA intron_variant MELA-AU 17 47732891 47732891 single base substitution G A intron_variant MELA-AU 17 47734300 47734300 single base substitution T C intron_variant MELA-AU 17 47734326 47734326 single base substitution G A intron_variant MELA-AU 17 47734474 47734474 single base substitution G A intron_variant MELA-AU 17 47735413 47735413 single base substitution G A intron_variant MELA-AU 17 47735699 47735699 single base substitution C T intron_variant MELA-AU 17 47735883 47735883 single base substitution G A intron_variant MELA-AU 17 47736160 47736160 single base substitution G A intron_variant MELA-AU 17 47736597 47736597 single base substitution G A intron_variant MELA-AU 17 47736774 47736774 single base substitution G A intron_variant MELA-AU 17 47737274 47737274 single base substitution G A intron_variant MELA-AU 17 47737473 47737473 single base substitution C A intron_variant MELA-AU 17 47738383 47738383 single base substitution A G intron_variant MELA-AU 17 47738506 47738506 single base substitution A T intron_variant MELA-AU 17 47739542 47739542 single base substitution A C intron_variant MELA-AU 17 47740138 47740138 single base substitution A T intron_variant MELA-AU 17 47741171 47741171 single base substitution A G intron_variant MELA-AU 17 47741518 47741518 single base substitution T C intron_variant MELA-AU 17 47742088 47742089 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 47742096 47742096 single base substitution G A intron_variant MELA-AU 17 47742979 47742979 single base substitution A G intron_variant MELA-AU 17 47743151 47743151 single base substitution G A intron_variant MELA-AU 17 47743638 47743638 single base substitution C T intron_variant MELA-AU 17 47744606 47744606 single base substitution T A intron_variant MELA-AU 17 47744846 47744846 single base substitution G A intron_variant MELA-AU 17 47745399 47745399 single base substitution G A 5_prime_UTR_variant MELA-AU 17 47745399 47745399 single base substitution G A exon_variant MELA-AU 17 47745399 47745399 single base substitution G A intron_variant MELA-AU 17 47745451 47745451 single base substitution G A intron_variant MELA-AU 17 47745898 47745898 single base substitution G A intron_variant MELA-AU 17 47746158 47746158 single base substitution C G intron_variant MELA-AU 17 47746233 47746234 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 47746732 47746732 single base substitution G A intron_variant MELA-AU 17 47749159 47749160 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 47749279 47749279 single base substitution G A intron_variant MELA-AU 17 47749346 47749346 single base substitution C A intron_variant MELA-AU 17 47749485 47749485 single base substitution G A intron_variant MELA-AU 17 47749537 47749537 single base substitution G A intron_variant MELA-AU 17 47749613 47749613 single base substitution A G intron_variant MELA-AU 17 47750244 47750244 single base substitution G A intron_variant MELA-AU 17 47750542 47750542 single base substitution G A intron_variant MELA-AU 17 47750675 47750675 single base substitution G A intron_variant MELA-AU 17 47751035 47751035 single base substitution G A intron_variant MELA-AU 17 47751063 47751063 single base substitution G A intron_variant MELA-AU 17 47751064 47751064 single base substitution G A intron_variant MELA-AU 17 47751327 47751327 single base substitution G A intron_variant MELA-AU 17 47751549 47751550 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 47751665 47751665 single base substitution G T intron_variant MELA-AU 17 47751925 47751925 single base substitution C T intron_variant MELA-AU 17 47752069 47752069 single base substitution A C intron_variant MELA-AU 17 47752963 47752963 single base substitution G A intron_variant MELA-AU 17 47753393 47753393 single base substitution G A intron_variant MELA-AU 17 47753531 47753531 single base substitution C T intron_variant MELA-AU 17 47754181 47754182 multiple base substitution (>=2bp and <=200bp) AG GA intron_variant MELA-AU 17 47754319 47754319 single base substitution C T intron_variant MELA-AU 17 47754641 47754641 single base substitution G A intron_variant MELA-AU 17 47754949 47754949 single base substitution G A intron_variant MELA-AU 17 47755364 47755364 single base substitution G A 5_prime_UTR_variant MELA-AU 17 47755364 47755364 single base substitution G A exon_variant MELA-AU 17 47755636 47755637 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 17 47755684 47755684 single base substitution G A upstream_gene_variant MELA-AU 17 47756048 47756049 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 17 47756068 47756068 single base substitution G A upstream_gene_variant MELA-AU 17 47756164 47756164 single base substitution G A upstream_gene_variant MELA-AU 17 47756416 47756416 single base substitution G A upstream_gene_variant MELA-AU 17 47756514 47756514 single base substitution G A upstream_gene_variant MELA-AU 17 47756532 47756532 single base substitution G A upstream_gene_variant MELA-AU 17 47756695 47756695 single base substitution G T upstream_gene_variant MELA-AU 17 47756950 47756951 multiple base substitution (>=2bp and <=200bp) TA GG upstream_gene_variant MELA-AU 17 47756963 47756963 single base substitution G A upstream_gene_variant MELA-AU 17 47757288 47757288 single base substitution G A upstream_gene_variant MELA-AU 17 47757872 47757873 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 17 47757886 47757886 single base substitution G A upstream_gene_variant MELA-AU 17 47757966 47757966 single base substitution A G upstream_gene_variant MELA-AU 17 47758281 47758281 single base substitution C T upstream_gene_variant MELA-AU 17 47758562 47758562 single base substitution C T upstream_gene_variant MELA-AU 17 47758779 47758779 single base substitution T A upstream_gene_variant MELA-AU 17 47759487 47759487 single base substitution C T upstream_gene_variant MELA-AU 17 47759744 47759745 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 17 47759908 47759908 single base substitution A G upstream_gene_variant MELA-AU 17 47760350 47760350 single base substitution G A upstream_gene_variant MELA-AU 17 47760459 47760459 single base substitution T G upstream_gene_variant ORCA-IN 17 47696642 47696642 single base substitution G C 3_prime_UTR_variant ORCA-IN 17 47696642 47696642 single base substitution G C downstream_gene_variant ORCA-IN 17 47696642 47696642 single base substitution G C exon_variant ORCA-IN 17 47696642 47696642 single base substitution G C missense_variant F102L 306C>G ORCA-IN 17 47704278 47704278 single base substitution C G intron_variant ORCA-IN 17 47718696 47718696 single base substitution C G intron_variant ORCA-IN 17 47733169 47733169 single base substitution G A intron_variant ORCA-IN 17 47734597 47734597 single base substitution C T intron_variant OV-AU 17 47678784 47678784 single base substitution T A exon_variant OV-AU 17 47678784 47678784 single base substitution T A intron_variant OV-AU 17 47690273 47690273 single base substitution C G 3_prime_UTR_variant OV-AU 17 47690273 47690273 single base substitution C G intron_variant OV-AU 17 47690273 47690273 single base substitution C G upstream_gene_variant OV-AU 17 47695432 47695432 single base substitution C G downstream_gene_variant OV-AU 17 47695432 47695432 single base substitution C G intron_variant OV-AU 17 47698527 47698527 single base substitution G A downstream_gene_variant OV-AU 17 47698527 47698527 single base substitution G A intron_variant OV-AU 17 47698527 47698527 single base substitution G A upstream_gene_variant OV-AU 17 47719670 47719670 single base substitution G A intron_variant OV-AU 17 47720389 47720389 single base substitution C T intron_variant OV-AU 17 47720552 47720552 single base substitution C A intron_variant OV-AU 17 47721444 47721444 single base substitution C A intron_variant OV-AU 17 47723895 47723895 single base substitution A G 5_prime_UTR_variant OV-AU 17 47723895 47723895 single base substitution A G intron_variant OV-AU 17 47740514 47740514 single base substitution G T intron_variant OV-AU 17 47755688 47755688 single base substitution G A upstream_gene_variant OV-AU 17 47756021 47756021 single base substitution C G upstream_gene_variant OV-AU 17 47758308 47758308 single base substitution C T upstream_gene_variant PACA-AU 17 47673620 47673620 single base substitution C G downstream_gene_variant PACA-AU 17 47673674 47673674 single base substitution C A downstream_gene_variant PACA-AU 17 47676031 47676031 single base substitution G A downstream_gene_variant PACA-AU 17 47685250 47685250 single base substitution C T 3_prime_UTR_variant PACA-AU 17 47685250 47685250 single base substitution C T downstream_gene_variant PACA-AU 17 47685250 47685250 single base substitution C T exon_variant PACA-AU 17 47685250 47685250 single base substitution C T missense_variant E234K 700G>A PACA-AU 17 47695992 47695992 single base substitution G A downstream_gene_variant PACA-AU 17 47695992 47695992 single base substitution G A intron_variant PACA-AU 17 47700193 47700193 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant PACA-AU 17 47700193 47700193 single base substitution G A exon_variant PACA-AU 17 47700193 47700193 single base substitution G A upstream_gene_variant PACA-AU 17 47703965 47703965 single base substitution A T intron_variant PACA-AU 17 47717732 47717732 single base substitution A T intron_variant PACA-AU 17 47724185 47724185 single base substitution C A intron_variant PACA-AU 17 47724185 47724185 single base substitution C A upstream_gene_variant PACA-AU 17 47732311 47732311 single base substitution T A intron_variant PACA-AU 17 47739306 47739306 single base substitution C T intron_variant PACA-AU 17 47750598 47750598 deletion of <=200bp T - intron_variant PACA-AU 17 47755723 47755723 single base substitution T G upstream_gene_variant PACA-AU 17 47756622 47756622 single base substitution A G upstream_gene_variant PACA-AU 17 47756668 47756668 single base substitution C A upstream_gene_variant PACA-AU 17 47758305 47758305 single base substitution G A upstream_gene_variant PACA-CA 17 47675550 47675550 single base substitution C T downstream_gene_variant PACA-CA 17 47675718 47675718 single base substitution T C downstream_gene_variant PACA-CA 17 47677704 47677704 insertion of <=200bp - T 3_prime_UTR_variant PACA-CA 17 47677704 47677704 insertion of <=200bp - T exon_variant PACA-CA 17 47679989 47679989 single base substitution T C downstream_gene_variant PACA-CA 17 47679989 47679989 single base substitution T C intron_variant PACA-CA 17 47679989 47679989 single base substitution T C upstream_gene_variant PACA-CA 17 47681368 47681368 single base substitution G A downstream_gene_variant PACA-CA 17 47681368 47681368 single base substitution G A intron_variant PACA-CA 17 47681368 47681368 single base substitution G A upstream_gene_variant PACA-CA 17 47684155 47684155 single base substitution G C downstream_gene_variant PACA-CA 17 47684155 47684155 single base substitution G C intron_variant PACA-CA 17 47684155 47684155 single base substitution G C upstream_gene_variant PACA-CA 17 47685832 47685832 insertion of <=200bp - G downstream_gene_variant PACA-CA 17 47685832 47685832 insertion of <=200bp - G intron_variant PACA-CA 17 47685841 47685841 single base substitution A G downstream_gene_variant PACA-CA 17 47685841 47685841 single base substitution A G intron_variant PACA-CA 17 47686868 47686868 single base substitution G A downstream_gene_variant PACA-CA 17 47686868 47686868 single base substitution G A intron_variant PACA-CA 17 47687380 47687380 single base substitution A T downstream_gene_variant PACA-CA 17 47687380 47687380 single base substitution A T intron_variant PACA-CA 17 47688865 47688865 deletion of <=200bp T - intron_variant PACA-CA 17 47688865 47688865 deletion of <=200bp T - upstream_gene_variant PACA-CA 17 47701287 47701287 single base substitution A G intron_variant PACA-CA 17 47701287 47701287 single base substitution A G upstream_gene_variant PACA-CA 17 47711097 47711105 deletion of <=200bp ACTCAAACA - intron_variant PACA-CA 17 47714045 47714045 single base substitution A C intron_variant PACA-CA 17 47714730 47714730 single base substitution G T intron_variant PACA-CA 17 47716248 47716248 single base substitution G A intron_variant PACA-CA 17 47719042 47719042 single base substitution G A intron_variant PACA-CA 17 47719049 47719049 single base substitution G A intron_variant PACA-CA 17 47719508 47719508 single base substitution G A intron_variant PACA-CA 17 47719520 47719520 single base substitution G T intron_variant PACA-CA 17 47722878 47722878 single base substitution C T intron_variant PACA-CA 17 47727157 47727157 single base substitution C A intron_variant PACA-CA 17 47727157 47727157 single base substitution C A upstream_gene_variant PACA-CA 17 47728622 47728622 single base substitution T C intron_variant PACA-CA 17 47728622 47728622 single base substitution T C upstream_gene_variant PACA-CA 17 47730459 47730459 deletion of <=200bp T - intron_variant PACA-CA 17 47731710 47731710 single base substitution C A intron_variant PACA-CA 17 47733322 47733322 single base substitution G A intron_variant PACA-CA 17 47739271 47739280 deletion of <=200bp AGGCTGAGGC - intron_variant PACA-CA 17 47740033 47740033 single base substitution G C intron_variant PACA-CA 17 47741112 47741112 single base substitution A T intron_variant PACA-CA 17 47748242 47748242 single base substitution C T intron_variant PACA-CA 17 47751208 47751208 single base substitution C G intron_variant PACA-CA 17 47752871 47752871 single base substitution G T intron_variant PACA-CA 17 47754299 47754299 single base substitution C G intron_variant PACA-CA 17 47757745 47757745 single base substitution G A upstream_gene_variant PACA-CA 17 47759738 47759738 single base substitution G C upstream_gene_variant PACA-CA 17 47760480 47760480 single base substitution A G upstream_gene_variant PAEN-AU 17 47671348 47671348 single base substitution T G downstream_gene_variant PAEN-AU 17 47714521 47714521 single base substitution G C intron_variant PAEN-AU 17 47721080 47721080 single base substitution G A intron_variant PAEN-IT 17 47732217 47732217 single base substitution C T intron_variant PBCA-DE 17 47681849 47681849 single base substitution C T downstream_gene_variant PBCA-DE 17 47681849 47681849 single base substitution C T intron_variant PBCA-DE 17 47681849 47681849 single base substitution C T upstream_gene_variant PBCA-DE 17 47688548 47688548 deletion of <=200bp C - downstream_gene_variant PBCA-DE 17 47688548 47688548 deletion of <=200bp C - intron_variant PBCA-DE 17 47695302 47695302 single base substitution A G downstream_gene_variant PBCA-DE 17 47695302 47695302 single base substitution A G intron_variant PBCA-DE 17 47702708 47702708 single base substitution C T intron_variant PBCA-DE 17 47711379 47711379 deletion of <=200bp A - intron_variant PBCA-DE 17 47722829 47722829 insertion of <=200bp - T intron_variant PBCA-DE 17 47723300 47723300 single base substitution G A intron_variant PBCA-DE 17 47732868 47732868 single base substitution G A intron_variant PBCA-DE 17 47732874 47732874 insertion of <=200bp - A intron_variant PBCA-DE 17 47739130 47739130 single base substitution G C intron_variant PBCA-DE 17 47739964 47739964 single base substitution G A intron_variant PBCA-DE 17 47752170 47752170 single base substitution C G intron_variant PRAD-CA 17 47672370 47672370 single base substitution G A downstream_gene_variant PRAD-CA 17 47687866 47687866 single base substitution C A downstream_gene_variant PRAD-CA 17 47687866 47687866 single base substitution C A intron_variant PRAD-CA 17 47688914 47688914 single base substitution C A intron_variant PRAD-CA 17 47688914 47688914 single base substitution C A upstream_gene_variant PRAD-CA 17 47691606 47691606 single base substitution C A downstream_gene_variant PRAD-CA 17 47691606 47691606 single base substitution C A intron_variant PRAD-CA 17 47691606 47691606 single base substitution C A upstream_gene_variant PRAD-CA 17 47691888 47691888 single base substitution C A downstream_gene_variant PRAD-CA 17 47691888 47691888 single base substitution C A intron_variant PRAD-CA 17 47691888 47691888 single base substitution C A upstream_gene_variant PRAD-CA 17 47693653 47693653 single base substitution C A downstream_gene_variant PRAD-CA 17 47693653 47693653 single base substitution C A intron_variant PRAD-CA 17 47693653 47693653 single base substitution C A upstream_gene_variant PRAD-CA 17 47696424 47696424 single base substitution G C 3_prime_UTR_variant PRAD-CA 17 47696424 47696424 single base substitution G C downstream_gene_variant PRAD-CA 17 47696424 47696424 single base substitution G C exon_variant PRAD-CA 17 47696424 47696424 single base substitution G C missense_variant F133L 399C>G PRAD-CA 17 47696425 47696425 single base substitution A G 3_prime_UTR_variant PRAD-CA 17 47696425 47696425 single base substitution A G downstream_gene_variant PRAD-CA 17 47696425 47696425 single base substitution A G exon_variant PRAD-CA 17 47696425 47696425 single base substitution A G missense_variant F133S 398T>C PRAD-CA 17 47696426 47696426 single base substitution A C 3_prime_UTR_variant PRAD-CA 17 47696426 47696426 single base substitution A C downstream_gene_variant PRAD-CA 17 47696426 47696426 single base substitution A C exon_variant PRAD-CA 17 47696426 47696426 single base substitution A C missense_variant F133V 397T>G PRAD-CA 17 47696426 47696426 single base substitution A T 3_prime_UTR_variant PRAD-CA 17 47696426 47696426 single base substitution A T downstream_gene_variant PRAD-CA 17 47696426 47696426 single base substitution A T exon_variant PRAD-CA 17 47696426 47696426 single base substitution A T missense_variant F133I 397T>A PRAD-CA 17 47696644 47696644 single base substitution A T 3_prime_UTR_variant PRAD-CA 17 47696644 47696644 single base substitution A T downstream_gene_variant PRAD-CA 17 47696644 47696644 single base substitution A T exon_variant PRAD-CA 17 47696644 47696644 single base substitution A T missense_variant F102I 304T>A PRAD-CA 17 47701249 47701249 single base substitution G T intron_variant PRAD-CA 17 47701249 47701249 single base substitution G T upstream_gene_variant PRAD-CA 17 47733623 47733623 single base substitution T C intron_variant PRAD-CA 17 47734732 47734732 single base substitution A C intron_variant PRAD-CA 17 47747190 47747190 single base substitution A T intron_variant PRAD-UK 17 47673311 47673311 single base substitution C G downstream_gene_variant PRAD-UK 17 47687541 47687541 single base substitution T C downstream_gene_variant PRAD-UK 17 47687541 47687541 single base substitution T C intron_variant PRAD-UK 17 47692627 47692627 single base substitution C G downstream_gene_variant PRAD-UK 17 47692627 47692627 single base substitution C G intron_variant PRAD-UK 17 47692627 47692627 single base substitution C G upstream_gene_variant PRAD-UK 17 47696417 47696417 single base substitution A G 3_prime_UTR_variant PRAD-UK 17 47696417 47696417 single base substitution A G downstream_gene_variant PRAD-UK 17 47696417 47696417 single base substitution A G exon_variant PRAD-UK 17 47696417 47696417 single base substitution A G missense_variant F136L 406T>C PRAD-UK 17 47696424 47696424 single base substitution G C 3_prime_UTR_variant PRAD-UK 17 47696424 47696424 single base substitution G C downstream_gene_variant PRAD-UK 17 47696424 47696424 single base substitution G C exon_variant PRAD-UK 17 47696424 47696424 single base substitution G C missense_variant F133L 399C>G PRAD-UK 17 47696425 47696425 single base substitution A C 3_prime_UTR_variant PRAD-UK 17 47696425 47696425 single base substitution A C downstream_gene_variant PRAD-UK 17 47696425 47696425 single base substitution A C exon_variant PRAD-UK 17 47696425 47696425 single base substitution A C missense_variant F133C 398T>G PRAD-UK 17 47696426 47696426 single base substitution A C 3_prime_UTR_variant PRAD-UK 17 47696426 47696426 single base substitution A C downstream_gene_variant PRAD-UK 17 47696426 47696426 single base substitution A C exon_variant PRAD-UK 17 47696426 47696426 single base substitution A C missense_variant F133V 397T>G PRAD-UK 17 47696426 47696426 single base substitution A T 3_prime_UTR_variant PRAD-UK 17 47696426 47696426 single base substitution A T downstream_gene_variant PRAD-UK 17 47696426 47696426 single base substitution A T exon_variant PRAD-UK 17 47696426 47696426 single base substitution A T missense_variant F133I 397T>A PRAD-UK 17 47696430 47696430 single base substitution C A 3_prime_UTR_variant PRAD-UK 17 47696430 47696430 single base substitution C A downstream_gene_variant PRAD-UK 17 47696430 47696430 single base substitution C A exon_variant PRAD-UK 17 47696430 47696430 single base substitution C A missense_variant W131C 393G>T PRAD-UK 17 47696643 47696643 single base substitution A C 3_prime_UTR_variant PRAD-UK 17 47696643 47696643 single base substitution A C downstream_gene_variant PRAD-UK 17 47696643 47696643 single base substitution A C exon_variant PRAD-UK 17 47696643 47696643 single base substitution A C missense_variant F102C 305T>G PRAD-UK 17 47696688 47696688 single base substitution T C 3_prime_UTR_variant PRAD-UK 17 47696688 47696688 single base substitution T C downstream_gene_variant PRAD-UK 17 47696688 47696688 single base substitution T C exon_variant PRAD-UK 17 47696688 47696688 single base substitution T C missense_variant Y87C 260A>G PRAD-UK 17 47696688 47696688 single base substitution T C upstream_gene_variant PRAD-UK 17 47715137 47715139 deletion of <=200bp ATT - intron_variant PRAD-UK 17 47719712 47719712 single base substitution C A intron_variant PRAD-UK 17 47738764 47738764 single base substitution C T intron_variant PRAD-UK 17 47741243 47741243 single base substitution T C intron_variant PRAD-UK 17 47754092 47754092 single base substitution C G intron_variant PRAD-UK 17 47759534 47759534 single base substitution T A upstream_gene_variant PRAD-US 17 47677762 47677762 single base substitution C T exon_variant PRAD-US 17 47677762 47677762 single base substitution C T missense_variant R368H 1103G>A PRAD-US 17 47696424 47696424 single base substitution G C 3_prime_UTR_variant PRAD-US 17 47696424 47696424 single base substitution G C downstream_gene_variant PRAD-US 17 47696424 47696424 single base substitution G C exon_variant PRAD-US 17 47696424 47696424 single base substitution G C missense_variant F133L 399C>G PRAD-US 17 47696424 47696424 single base substitution G T 3_prime_UTR_variant PRAD-US 17 47696424 47696424 single base substitution G T downstream_gene_variant PRAD-US 17 47696424 47696424 single base substitution G T exon_variant PRAD-US 17 47696424 47696424 single base substitution G T missense_variant F133L 399C>A PRAD-US 17 47696425 47696425 single base substitution A C 3_prime_UTR_variant PRAD-US 17 47696425 47696425 single base substitution A C downstream_gene_variant PRAD-US 17 47696425 47696425 single base substitution A C exon_variant PRAD-US 17 47696425 47696425 single base substitution A C missense_variant F133C 398T>G PRAD-US 17 47696425 47696425 single base substitution A G 3_prime_UTR_variant PRAD-US 17 47696425 47696425 single base substitution A G downstream_gene_variant PRAD-US 17 47696425 47696425 single base substitution A G exon_variant PRAD-US 17 47696425 47696425 single base substitution A G missense_variant F133S 398T>C PRAD-US 17 47696426 47696426 single base substitution A C 3_prime_UTR_variant PRAD-US 17 47696426 47696426 single base substitution A C downstream_gene_variant PRAD-US 17 47696426 47696426 single base substitution A C exon_variant PRAD-US 17 47696426 47696426 single base substitution A C missense_variant F133V 397T>G PRAD-US 17 47696426 47696426 single base substitution A G 3_prime_UTR_variant PRAD-US 17 47696426 47696426 single base substitution A G downstream_gene_variant PRAD-US 17 47696426 47696426 single base substitution A G exon_variant PRAD-US 17 47696426 47696426 single base substitution A G missense_variant F133L 397T>C PRAD-US 17 47696426 47696426 single base substitution A T 3_prime_UTR_variant PRAD-US 17 47696426 47696426 single base substitution A T downstream_gene_variant PRAD-US 17 47696426 47696426 single base substitution A T exon_variant PRAD-US 17 47696426 47696426 single base substitution A T missense_variant F133I 397T>A PRAD-US 17 47696431 47696431 single base substitution C G 3_prime_UTR_variant PRAD-US 17 47696431 47696431 single base substitution C G downstream_gene_variant PRAD-US 17 47696431 47696431 single base substitution C G exon_variant PRAD-US 17 47696431 47696431 single base substitution C G missense_variant W131S 392G>C PRAD-US 17 47696432 47696432 single base substitution A C 3_prime_UTR_variant PRAD-US 17 47696432 47696432 single base substitution A C downstream_gene_variant PRAD-US 17 47696432 47696432 single base substitution A C exon_variant PRAD-US 17 47696432 47696432 single base substitution A C missense_variant W131G 391T>G PRAD-US 17 47696432 47696432 single base substitution A G 3_prime_UTR_variant PRAD-US 17 47696432 47696432 single base substitution A G downstream_gene_variant PRAD-US 17 47696432 47696432 single base substitution A G exon_variant PRAD-US 17 47696432 47696432 single base substitution A G missense_variant W131R 391T>C PRAD-US 17 47696457 47696462 deletion of <=200bp TGCCCG - 3_prime_UTR_variant PRAD-US 17 47696457 47696462 deletion of <=200bp TGCCCG - downstream_gene_variant PRAD-US 17 47696457 47696462 deletion of <=200bp TGCCCG - exon_variant PRAD-US 17 47696457 47696462 deletion of <=200bp TGCCCG - inframe_deletion RA121 PRAD-US 17 47696637 47696637 single base substitution A G 3_prime_UTR_variant PRAD-US 17 47696637 47696637 single base substitution A G downstream_gene_variant PRAD-US 17 47696637 47696637 single base substitution A G exon_variant PRAD-US 17 47696637 47696637 single base substitution A G missense_variant F104S 311T>C PRAD-US 17 47696643 47696643 single base substitution A C 3_prime_UTR_variant PRAD-US 17 47696643 47696643 single base substitution A C downstream_gene_variant PRAD-US 17 47696643 47696643 single base substitution A C exon_variant PRAD-US 17 47696643 47696643 single base substitution A C missense_variant F102C 305T>G PRAD-US 17 47696644 47696644 single base substitution A C 3_prime_UTR_variant PRAD-US 17 47696644 47696644 single base substitution A C downstream_gene_variant PRAD-US 17 47696644 47696644 single base substitution A C exon_variant PRAD-US 17 47696644 47696644 single base substitution A C missense_variant F102V 304T>G PRAD-US 17 47696688 47696688 single base substitution T C 3_prime_UTR_variant PRAD-US 17 47696688 47696688 single base substitution T C downstream_gene_variant PRAD-US 17 47696688 47696688 single base substitution T C exon_variant PRAD-US 17 47696688 47696688 single base substitution T C missense_variant Y87C 260A>G PRAD-US 17 47696688 47696688 single base substitution T C upstream_gene_variant PRAD-US 17 47696688 47696688 single base substitution T G 3_prime_UTR_variant PRAD-US 17 47696688 47696688 single base substitution T G downstream_gene_variant PRAD-US 17 47696688 47696688 single base substitution T G exon_variant PRAD-US 17 47696688 47696688 single base substitution T G missense_variant Y87S 260A>C PRAD-US 17 47696688 47696688 single base substitution T G upstream_gene_variant READ-US 17 47696399 47696399 single base substitution G A 3_prime_UTR_variant READ-US 17 47696399 47696399 single base substitution G A downstream_gene_variant READ-US 17 47696399 47696399 single base substitution G A exon_variant READ-US 17 47696399 47696399 single base substitution G A missense_variant L142F 424C>T RECA-EU 17 47677264 47677264 single base substitution T A 3_prime_UTR_variant RECA-EU 17 47677264 47677264 single base substitution T A downstream_gene_variant RECA-EU 17 47677264 47677264 single base substitution T A exon_variant RECA-EU 17 47679112 47679112 single base substitution A C exon_variant RECA-EU 17 47679112 47679112 single base substitution A C intron_variant RECA-EU 17 47679112 47679112 single base substitution A C upstream_gene_variant RECA-EU 17 47701695 47701695 single base substitution A G intron_variant RECA-EU 17 47702634 47702634 single base substitution G A intron_variant RECA-EU 17 47708835 47708835 single base substitution T C intron_variant RECA-EU 17 47716645 47716645 single base substitution G A intron_variant RECA-EU 17 47720708 47720708 single base substitution C A intron_variant RECA-EU 17 47721928 47721928 single base substitution T G intron_variant RECA-EU 17 47736272 47736272 single base substitution T C intron_variant RECA-EU 17 47751236 47751236 single base substitution T C intron_variant RECA-EU 17 47758775 47758775 single base substitution A G upstream_gene_variant SKCA-BR 17 47677567 47677567 single base substitution C T 3_prime_UTR_variant SKCA-BR 17 47677567 47677567 single base substitution C T downstream_gene_variant SKCA-BR 17 47677567 47677567 single base substitution C T exon_variant SKCA-BR 17 47680454 47680454 single base substitution T A downstream_gene_variant SKCA-BR 17 47680454 47680454 single base substitution T A intron_variant SKCA-BR 17 47680454 47680454 single base substitution T A upstream_gene_variant SKCA-BR 17 47680650 47680650 single base substitution T C downstream_gene_variant SKCA-BR 17 47680650 47680650 single base substitution T C intron_variant SKCA-BR 17 47680650 47680650 single base substitution T C upstream_gene_variant SKCA-BR 17 47682405 47682405 single base substitution C T downstream_gene_variant SKCA-BR 17 47682405 47682405 single base substitution C T intron_variant SKCA-BR 17 47682405 47682405 single base substitution C T upstream_gene_variant SKCA-BR 17 47682699 47682699 single base substitution G A downstream_gene_variant SKCA-BR 17 47682699 47682699 single base substitution G A intron_variant SKCA-BR 17 47682699 47682699 single base substitution G A upstream_gene_variant SKCA-BR 17 47684212 47684212 single base substitution G A downstream_gene_variant SKCA-BR 17 47684212 47684212 single base substitution G A intron_variant SKCA-BR 17 47684212 47684212 single base substitution G A upstream_gene_variant SKCA-BR 17 47685697 47685697 single base substitution G A downstream_gene_variant SKCA-BR 17 47685697 47685697 single base substitution G A intron_variant SKCA-BR 17 47686653 47686653 single base substitution G A downstream_gene_variant SKCA-BR 17 47686653 47686653 single base substitution G A intron_variant SKCA-BR 17 47687824 47687824 single base substitution A C downstream_gene_variant SKCA-BR 17 47687824 47687824 single base substitution A C intron_variant SKCA-BR 17 47696622 47696622 single base substitution G A 3_prime_UTR_variant SKCA-BR 17 47696622 47696622 single base substitution G A downstream_gene_variant SKCA-BR 17 47696622 47696622 single base substitution G A exon_variant SKCA-BR 17 47696622 47696622 single base substitution G A missense_variant A109V 326C>T SKCA-BR 17 47697539 47697539 single base substitution G A downstream_gene_variant SKCA-BR 17 47697539 47697539 single base substitution G A intron_variant SKCA-BR 17 47697539 47697539 single base substitution G A upstream_gene_variant SKCA-BR 17 47700123 47700123 single base substitution G A exon_variant SKCA-BR 17 47700123 47700123 single base substitution G A missense_variant P17L 50C>T SKCA-BR 17 47700123 47700123 single base substitution G A upstream_gene_variant SKCA-BR 17 47701683 47701683 single base substitution G A intron_variant SKCA-BR 17 47702842 47702842 single base substitution C T intron_variant SKCA-BR 17 47703380 47703380 single base substitution G A intron_variant SKCA-BR 17 47709377 47709377 single base substitution G A intron_variant SKCA-BR 17 47710255 47710255 single base substitution G A intron_variant SKCA-BR 17 47710877 47710877 single base substitution A G intron_variant SKCA-BR 17 47712385 47712385 single base substitution A T intron_variant SKCA-BR 17 47721622 47721622 single base substitution G A intron_variant SKCA-BR 17 47726209 47726209 single base substitution T C intron_variant SKCA-BR 17 47726209 47726209 single base substitution T C upstream_gene_variant SKCA-BR 17 47726213 47726213 single base substitution G C intron_variant SKCA-BR 17 47726213 47726213 single base substitution G C upstream_gene_variant SKCA-BR 17 47728789 47728789 single base substitution G A intron_variant SKCA-BR 17 47728789 47728789 single base substitution G A upstream_gene_variant SKCA-BR 17 47730398 47730398 single base substitution T C intron_variant SKCA-BR 17 47735383 47735383 single base substitution G A intron_variant SKCA-BR 17 47743396 47743396 single base substitution G A intron_variant SKCA-BR 17 47743842 47743842 single base substitution C T intron_variant SKCA-BR 17 47744655 47744655 insertion of <=200bp - TA intron_variant SKCA-BR 17 47746234 47746234 single base substitution G T intron_variant SKCA-BR 17 47746758 47746758 single base substitution G A intron_variant SKCA-BR 17 47748335 47748335 single base substitution T A intron_variant SKCA-BR 17 47753158 47753158 single base substitution T G intron_variant SKCA-BR 17 47755026 47755026 single base substitution A G intron_variant SKCA-BR 17 47755326 47755326 single base substitution G C 5_prime_UTR_variant SKCA-BR 17 47755326 47755326 single base substitution G C exon_variant SKCA-BR 17 47755454 47755454 single base substitution G A 5_prime_UTR_variant SKCA-BR 17 47755454 47755454 single base substitution G A exon_variant SKCA-BR 17 47755454 47755454 single base substitution G A upstream_gene_variant SKCA-BR 17 47755691 47755691 single base substitution T G upstream_gene_variant SKCA-BR 17 47756217 47756217 single base substitution G A upstream_gene_variant SKCA-BR 17 47756220 47756220 single base substitution T G upstream_gene_variant SKCA-BR 17 47756422 47756422 single base substitution C G upstream_gene_variant SKCA-BR 17 47756769 47756769 single base substitution T A upstream_gene_variant SKCA-BR 17 47759487 47759487 single base substitution C T upstream_gene_variant SKCM-US 17 47684678 47684678 single base substitution G A 3_prime_UTR_variant SKCM-US 17 47684678 47684678 single base substitution G A downstream_gene_variant SKCM-US 17 47684678 47684678 single base substitution G A exon_variant SKCM-US 17 47684678 47684678 single base substitution G A synonymous_variant F257F 771C>T SKCM-US 17 47684678 47684678 single base substitution G A upstream_gene_variant SKCM-US 17 47685283 47685283 single base substitution G A 3_prime_UTR_variant SKCM-US 17 47685283 47685283 single base substitution G A downstream_gene_variant SKCM-US 17 47685283 47685283 single base substitution G A exon_variant SKCM-US 17 47685283 47685283 single base substitution G A missense_variant P223S 667C>T STAD-US 17 47679303 47679303 single base substitution C T exon_variant STAD-US 17 47679303 47679303 single base substitution C T missense_variant A302T 904G>A STAD-US 17 47679303 47679303 single base substitution C T upstream_gene_variant STAD-US 17 47696653 47696653 single base substitution G A 3_prime_UTR_variant STAD-US 17 47696653 47696653 single base substitution G A downstream_gene_variant STAD-US 17 47696653 47696653 single base substitution G A exon_variant STAD-US 17 47696653 47696653 single base substitution G A missense_variant R99W 295C>T STAD-US 17 47699370 47699370 single base substitution C A 3_prime_UTR_variant STAD-US 17 47699370 47699370 single base substitution C A downstream_gene_variant STAD-US 17 47699370 47699370 single base substitution C A exon_variant STAD-US 17 47699370 47699370 single base substitution C A missense_variant E46D 138G>T STAD-US 17 47699370 47699370 single base substitution C A upstream_gene_variant STAD-US 17 47700149 47700149 single base substitution T C exon_variant STAD-US 17 47700149 47700149 single base substitution T C synonymous_variant P8P 24A>G STAD-US 17 47700149 47700149 single base substitution T C upstream_gene_variant THCA-SA 17 47677191 47677191 single base substitution T C 3_prime_UTR_variant THCA-SA 17 47677191 47677191 single base substitution T C downstream_gene_variant THCA-SA 17 47677191 47677191 single base substitution T C exon_variant THCA-US 17 47696667 47696667 single base substitution G C 3_prime_UTR_variant THCA-US 17 47696667 47696667 single base substitution G C downstream_gene_variant THCA-US 17 47696667 47696667 single base substitution G C missense_variant P94R 281C>G THCA-US 17 47696667 47696667 single base substitution G C upstream_gene_variant UCEC-US 17 47677757 47677757 insertion of <=200bp - T exon_variant UCEC-US 17 47677757 47677757 insertion of <=200bp - T frameshift_variant R370Q? UCEC-US 17 47677804 47677804 single base substitution C T exon_variant UCEC-US 17 47677804 47677804 single base substitution C T missense_variant R354H 1061G>A UCEC-US 17 47679362 47679362 single base substitution A C exon_variant UCEC-US 17 47679362 47679362 single base substitution A C missense_variant L282R 845T>G UCEC-US 17 47679362 47679362 single base substitution A C upstream_gene_variant UCEC-US 17 47684731 47684731 single base substitution G A 3_prime_UTR_variant UCEC-US 17 47684731 47684731 single base substitution G A downstream_gene_variant UCEC-US 17 47684731 47684731 single base substitution G A exon_variant UCEC-US 17 47684731 47684731 single base substitution G A stop_gained R240* 718C>T UCEC-US 17 47684731 47684731 single base substitution G A upstream_gene_variant UCEC-US 17 47696404 47696404 single base substitution T C 3_prime_UTR_variant UCEC-US 17 47696404 47696404 single base substitution T C downstream_gene_variant UCEC-US 17 47696404 47696404 single base substitution T C exon_variant UCEC-US 17 47696404 47696404 single base substitution T C missense_variant D140G 419A>G UCEC-US 17 47696405 47696405 single base substitution C T 3_prime_UTR_variant UCEC-US 17 47696405 47696405 single base substitution C T downstream_gene_variant UCEC-US 17 47696405 47696405 single base substitution C T exon_variant UCEC-US 17 47696405 47696405 single base substitution C T missense_variant D140N 418G>A UCEC-US 17 47696430 47696430 single base substitution C A 3_prime_UTR_variant UCEC-US 17 47696430 47696430 single base substitution C A downstream_gene_variant UCEC-US 17 47696430 47696430 single base substitution C A exon_variant UCEC-US 17 47696430 47696430 single base substitution C A missense_variant W131C 393G>T UCEC-US 17 47696461 47696461 single base substitution C T 3_prime_UTR_variant UCEC-US 17 47696461 47696461 single base substitution C T downstream_gene_variant UCEC-US 17 47696461 47696461 single base substitution C T exon_variant UCEC-US 17 47696461 47696461 single base substitution C T missense_variant R121Q 362G>A UCEC-US 17 47696599 47696599 single base substitution T C 3_prime_UTR_variant UCEC-US 17 47696599 47696599 single base substitution T C downstream_gene_variant UCEC-US 17 47696599 47696599 single base substitution T C exon_variant UCEC-US 17 47696599 47696599 single base substitution T C missense_variant M117V 349A>G UCEC-US 17 47696639 47696639 single base substitution T G 3_prime_UTR_variant UCEC-US 17 47696639 47696639 single base substitution T G downstream_gene_variant UCEC-US 17 47696639 47696639 single base substitution T G exon_variant UCEC-US 17 47696639 47696639 single base substitution T G missense_variant K103N 309A>C UCEC-US 17 47696716 47696716 single base substitution C T 3_prime_UTR_variant UCEC-US 17 47696716 47696716 single base substitution C T downstream_gene_variant UCEC-US 17 47696716 47696716 single base substitution C T exon_variant UCEC-US 17 47696716 47696716 single base substitution C T missense_variant E78K 232G>A UCEC-US 17 47696716 47696716 single base substitution C T upstream_gene_variant UCEC-US 17 47696740 47696740 single base substitution G A 3_prime_UTR_variant UCEC-US 17 47696740 47696740 single base substitution G A downstream_gene_variant UCEC-US 17 47696740 47696740 single base substitution G A exon_variant UCEC-US 17 47696740 47696740 single base substitution G A stop_gained R70* 208C>T UCEC-US 17 47696740 47696740 single base substitution G A upstream_gene_variant UCEC-US 17 47699332 47699332 single base substitution G T 3_prime_UTR_variant UCEC-US 17 47699332 47699332 single base substitution G T downstream_gene_variant UCEC-US 17 47699332 47699332 single base substitution G T exon_variant UCEC-US 17 47699332 47699332 single base substitution G T stop_gained S59* 176C>A UCEC-US 17 47699332 47699332 single base substitution G T upstream_gene_variant UCEC-US 17 47699360 47699360 single base substitution C T 3_prime_UTR_variant UCEC-US 17 47699360 47699360 single base substitution C T downstream_gene_variant UCEC-US 17 47699360 47699360 single base substitution C T exon_variant UCEC-US 17 47699360 47699360 single base substitution C T missense_variant E50K 148G>A UCEC-US 17 47699360 47699360 single base substitution C T upstream_gene_variant UCEC-US 17 47699368 47699368 single base substitution T G 3_prime_UTR_variant UCEC-US 17 47699368 47699368 single base substitution T G downstream_gene_variant UCEC-US 17 47699368 47699368 single base substitution T G exon_variant UCEC-US 17 47699368 47699368 single base substitution T G missense_variant E47A 140A>C UCEC-US 17 47699368 47699368 single base substitution T G upstream_gene_variant UCEC-US 17 47699372 47699372 single base substitution C T 3_prime_UTR_variant UCEC-US 17 47699372 47699372 single base substitution C T downstream_gene_variant UCEC-US 17 47699372 47699372 single base substitution C T exon_variant UCEC-US 17 47699372 47699372 single base substitution C T missense_variant E46K 136G>A UCEC-US 17 47699372 47699372 single base substitution C T upstream_gene_variant UCEC-US 17 47699375 47699375 single base substitution G A 3_prime_UTR_variant UCEC-US 17 47699375 47699375 single base substitution G A downstream_gene_variant UCEC-US 17 47699375 47699375 single base substitution G A exon_variant UCEC-US 17 47699375 47699375 single base substitution G A missense_variant R45W 133C>T UCEC-US 17 47699375 47699375 single base substitution G A upstream_gene_variant UCEC-US 17 47700132 47700132 single base substitution G A exon_variant UCEC-US 17 47700132 47700132 single base substitution G A missense_variant S14L 41C>T UCEC-US 17 47700132 47700132 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 BL26 COSM3728329 c.413G>C p.R138P Substitution - Missense 17:49619048-49619048 - PR-09-5245 COSM242641 c.391T>G p.W131G Substitution - Missense 17:49619070-49619070 - TCGA-J4-A6G3-01 COSM219965 c.397T>G p.F133V Substitution - Missense 17:49619064-49619064 - T3503 COSM4729695 c.895G>A p.V299M Substitution - Missense 17:49601950-49601950 - TCGA-EJ-A65E-01 COSM4393128 c.304T>G p.F102V Substitution - Missense 17:49619282-49619282 - TCGA-AX-A05Z-01 COSM980809 c.418G>A p.D140N Substitution - Missense 17:49619043-49619043 - P07-684 COSM242643 c.375T>A p.F125L Substitution - Missense 17:49619086-49619086 - SC_9001 COSM220066 c.305T>G p.F102C Substitution - Missense 17:49619281-49619281 - STID0000003043_B56 COSM220066 c.305T>G p.F102C Substitution - Missense 17:49619281-49619281 - TCGA-G9-6369-01 COSM242641 c.391T>G p.W131G Substitution - Missense 17:49619070-49619070 - TCGA-JW-A5VH-01 COSM980812 c.349A>G p.M117V Substitution - Missense 17:49619237-49619237 - Left_adrenal COSM220066 c.305T>G p.F102C Substitution - Missense 17:49619281-49619281 - WA19 COSM95272 c.399C>G p.F133L Substitution - Missense 17:49619062-49619062 - T3446 COSM189170 c.894C>T p.S298S Substitution - coding silent 17:49601951-49601951 - 2461392 COSM95272 c.399C>G p.F133L Substitution - Missense 17:49619062-49619062 - STID0000002844_D COSM247571 c.399C>A p.F133L Substitution - Missense 17:49619062-49619062 - 2461408 COSM95272 c.399C>G p.F133L Substitution - Missense 17:49619062-49619062 - KPOPBR-15-T COSM5964358 c.480+7C>T p.? Unknown 17:49618974-49618974 - 2444684 COSM5414796 c.310T>G p.F104V Substitution - Missense 17:49619276-49619276 - 0091_CRUK_PC_0091_T1_DNA COSM4420161 c.397T>A p.F133I Substitution - Missense 17:49619064-49619064 - TCGA-HC-8258-01 COSM4392689 c.397T>C p.F133L Substitution - Missense 17:49619064-49619064 - TCGA-CH-5788-01 COSM242641 c.391T>G p.W131G Substitution - Missense 17:49619070-49619070 - SWE-52 COSM95272 c.399C>G p.F133L Substitution - Missense 17:49619062-49619062 - TCGA-EI-6917-01 COSM3749406 c.424C>T p.L142F Substitution - Missense 17:49619037-49619037 - TCGA-D1-A17D-01 COSM980816 c.208C>T p.R70* Substitution - Nonsense 17:49619378-49619378 - PR-00-160 COSM242644 c.402G>C p.K134N Substitution - Missense 17:49619059-49619059 - CPCG0183-F1 COSM247573 c.398T>C p.F133S Substitution - Missense 17:49619063-49619063 - PT14_1 COSM88679 c.139G>A p.E47K Substitution - Missense 17:49622007-49622007 - tumor_4159421 COSM4268419 c.351G>A p.M117I Substitution - Missense 17:49619235-49619235 - HCC057T COSM5807877 c.557T>C p.L186P Substitution - Missense 17:49611381-49611381 - SWE-44 COSM220066 c.305T>G p.F102C Substitution - Missense 17:49619281-49619281 - SWE-47 COSM247573 c.398T>C p.F133S Substitution - Missense 17:49619063-49619063 - CPCG0388-F1 COSM4966630 c.304T>A p.F102I Substitution - Missense 17:49619282-49619282 - TCGA-D1-A167-01 COSM980811 c.362G>A p.R121Q Substitution - Missense 17:49619099-49619099 - 10-276 COSM3736766 c.22C>T p.P8S Substitution - Missense 17:49622789-49622789 - Pat_30_A COSM5852862 c.757G>T p.E253* Substitution - Nonsense 17:49607330-49607330 - Right_rib COSM220066 c.305T>G p.F102C Substitution - Missense 17:49619281-49619281 - PR-05-839 COSM242640 c.259T>A p.Y87N Substitution - Missense 17:49619327-49619327 - TCGA-36-1568-01 COSM79418 c.745G>T p.E249* Substitution - Nonsense 17:49607342-49607342 - 2476_CLM COSM5755067 c.1007C>T p.S336F Substitution - Missense 17:49600496-49600496 - 2274321 COSM980811 c.362G>A p.R121Q Substitution - Missense 17:49619099-49619099 - TCGA-QU-A6IM-01 COSM4393128 c.304T>G p.F102V Substitution - Missense 17:49619282-49619282 - STID0000002943_C COSM248681 c.260A>G p.Y87C Substitution - Missense 17:49619326-49619326 - 1N46-VS-1T46 COSM2698399 c.388G>C p.D130H Substitution - Missense 17:49619073-49619073 - Multi_liver_13 COSM220066 c.305T>G p.F102C Substitution - Missense 17:49619281-49619281 - 2453029 COSM5414952 c.395G>A p.G132E Substitution - Missense 17:49619066-49619066 - TCGA-A5-A0GD-01 COSM980806 c.742C>T p.P248S Substitution - Missense 17:49607345-49607345 - Left_iliac_crest COSM220066 c.305T>G p.F102C Substitution - Missense 17:49619281-49619281 - PR-0508 COSM219965 c.397T>G p.F133V Substitution - Missense 17:49619064-49619064 - 2444689 COSM5414798 c.358C>T p.Q120* Substitution - Nonsense 17:49619103-49619103 - TCGA-BG-A0M3-01 COSM980818 c.148G>A p.E50K Substitution - Missense 17:49621998-49621998 - MSK-PCa7_tissue COSM95272 c.399C>G p.F133L Substitution - Missense 17:49619062-49619062 - 2461403 COSM95272 c.399C>G p.F133L Substitution - Missense 17:49619062-49619062 - CPCG_0042_Pr_P_F0 COSM219965 c.397T>G p.F133V Substitution - Missense 17:49619064-49619064 - 100912 COSM95271 c.506A>G p.N169S Substitution - Missense 17:49611432-49611432 - TCGA-AC-A5XS-01 COSM4390900 c.164C>G p.S55C Substitution - Missense 17:49621982-49621982 - PCA17-2 COSM5415481 c.393G>C p.W131C Substitution - Missense 17:49619068-49619068 - TCGA-D1-A0ZQ-01 COSM980817 c.176C>A p.S59* Substitution - Nonsense 17:49621970-49621970 - 0028_CRUK_PC_0028_T1_DNA COSM219965 c.397T>G p.F133V Substitution - Missense 17:49619064-49619064 - CPCG_0020_Pr_P_F0 COSM95272 c.399C>G p.F133L Substitution - Missense 17:49619062-49619062 - TCGA-BS-A0UF-01 COSM980807 c.718C>T p.R240* Substitution - Nonsense 17:49607369-49607369 - 2432704 COSM5352288 c.? p.R121Q Substitution - Missense 2274327 COSM5414954 c.351G>T p.M117I Substitution - Missense 17:49619235-49619235 - G3_5 COSM220066 c.305T>G p.F102C Substitution - Missense 17:49619281-49619281 - PR-3051 COSM242642 c.385A>G p.K129E Substitution - Missense 17:49619076-49619076 - TCGA-BS-A0UT-01 COSM980812 c.349A>G p.M117V Substitution - Missense 17:49619237-49619237 - CLL032 COSM1290717 c.388G>A p.D130N Substitution - Missense 17:49619073-49619073 - TCGA-A3-3367-01 COSM472968 c.875C>T p.A292V Substitution - Missense 17:49601970-49601970 - 2274325 COSM5414953 c.355A>G p.S119G Substitution - Missense 17:49619106-49619106 - 2444685 COSM95272 c.399C>G p.F133L Substitution - Missense 17:49619062-49619062 - 2432695 COSM5352287 c.? p.R198W Substitution - Missense 2448383 COSM5414800 c.305T>C p.F102S Substitution - Missense 17:49619281-49619281 - LUAD-D02085 COSM363283 c.837G>C p.K279N Substitution - Missense 17:49607250-49607250 - PR-2761 COSM247573 c.398T>C p.F133S Substitution - Missense 17:49619063-49619063 - 0118_CRUK_PC_0118_T1_DNA COSM248681 c.260A>G p.Y87C Substitution - Missense 17:49619326-49619326 - TCGA-EJ-A65M-01 COSM248681 c.260A>G p.Y87C Substitution - Missense 17:49619326-49619326 - TCGA-DB-5275-01 COSM3970126 c.581G>T p.W194L Substitution - Missense 17:49611357-49611357 - STID0000003640_B53 COSM248681 c.260A>G p.Y87C Substitution - Missense 17:49619326-49619326 - SC_9082 COSM247571 c.399C>A p.F133L Substitution - Missense 17:49619062-49619062 - CHC892T COSM4798378 c.608G>A p.C203Y Substitution - Missense 17:49611330-49611330 - 110465 COSM95270 c.570A>C p.L190F Substitution - Missense 17:49611368-49611368 - STID0000000420_D COSM95272 c.399C>G p.F133L Substitution - Missense 17:49619062-49619062 - CPCG0413-F1 COSM219965 c.397T>G p.F133V Substitution - Missense 17:49619064-49619064 - HCC073T COSM5821809 c.457G>T p.D153Y Substitution - Missense 17:49619004-49619004 - TCGA-HC-7080-01 COSM3672490 c.392G>C p.W131S Substitution - Missense 17:49619069-49619069 - TCGA-EJ-7782-01 COSM219965 c.397T>G p.F133V Substitution - Missense 17:49619064-49619064 - CSCC-4-T COSM4455273 c.716A>T p.N239I Substitution - Missense 17:49607371-49607371 - TCGA-D1-A103-01 COSM980822 c.41C>T p.S14L Substitution - Missense 17:49622770-49622770 - 2448384 COSM5414801 c.332G>A p.G111E Substitution - Missense 17:49619254-49619254 - TCGA-CU-A3YL-01 COSM3795752 c.628G>C p.E210Q Substitution - Missense 17:49611310-49611310 - tumor_4105746 COSM5946411 c.609C>A p.C203* Substitution - Nonsense 17:49611329-49611329 - 0090_CRUK_PC_0090_T1_DNA COSM4420882 c.406T>C p.F136L Substitution - Missense 17:49619055-49619055 - MO_1128 COSM95272 c.399C>G p.F133L Substitution - Missense 17:49619062-49619062 - 2448382 COSM5414800 c.305T>C p.F102S Substitution - Missense 17:49619281-49619281 - Single_liver_2 COSM220066 c.305T>G p.F102C Substitution - Missense 17:49619281-49619281 - 111878 COSM95273 c.373T>G p.F125V Substitution - Missense 17:49619088-49619088 - CPCG0099-P1 COSM219965 c.397T>G p.F133V Substitution - Missense 17:49619064-49619064 - PR-04-3222 COSM247571 c.399C>A p.F133L Substitution - Missense 17:49619062-49619062 - BZ33 COSM5759035 c.419A>C p.D140A Substitution - Missense 17:49619042-49619042 - Gp5D COSM2698393 c.680C>T p.A227V Substitution - Missense 17:49607908-49607908 - TCGA-EJ-8468-01 COSM247573 c.398T>C p.F133S Substitution - Missense 17:49619063-49619063 - MM21T COSM980820 c.136G>A p.E46K Substitution - Missense 17:49622010-49622010 - B65 COSM1750122 c.273C>T p.V91V Substitution - coding silent 17:49619313-49619313 - T80 COSM1177662 c.280C>G p.P94A Substitution - Missense 17:49619306-49619306 - BD131T COSM1290717 c.388G>A p.D130N Substitution - Missense 17:49619073-49619073 - 2476_PT COSM5755067 c.1007C>T p.S336F Substitution - Missense 17:49600496-49600496 - TCGA-D1-A16R-01 COSM980813 c.310T>A p.F104I Substitution - Missense 17:49619276-49619276 - 2444688 COSM5414797 c.457G>A p.D153N Substitution - Missense 17:49619004-49619004 - 587238 COSM1227419 c.538A>G p.K180E Substitution - Missense 17:49611400-49611400 - TCGA-HC-A6AP-01 COSM95272 c.399C>G p.F133L Substitution - Missense 17:49619062-49619062 - SWE-2A COSM95272 c.399C>G p.F133L Substitution - Missense 17:49619062-49619062 - MSK-PCa7_organoid COSM95272 c.399C>G p.F133L Substitution - Missense 17:49619062-49619062 - TCGA-EJ-7115-01 COSM242641 c.391T>G p.W131G Substitution - Missense 17:49619070-49619070 - STID0000003131_B51 COSM242645 c.398T>G p.F133C Substitution - Missense 17:49619063-49619063 - PD23563a COSM5774198 c.181G>C p.A61P Substitution - Missense 17:49621965-49621965 - 2432703 COSM5352288 c.? p.R121Q Substitution - Missense TCGA-AP-A059-01 COSM980804 c.1061G>A p.R354H Substitution - Missense 17:49600442-49600442 - SC_9076 COSM95272 c.399C>G p.F133L Substitution - Missense 17:49619062-49619062 - 2448380 COSM248681 c.260A>G p.Y87C Substitution - Missense 17:49619326-49619326 - TCGA-AP-A0L8-01 COSM980808 c.419A>G p.D140G Substitution - Missense 17:49619042-49619042 - 537 COSM3723696 c.108G>A p.W36* Substitution - Nonsense 17:49622038-49622038 - HCT8 COSM2698398 c.431A>G p.D144G Substitution - Missense 17:49619030-49619030 - TCGA-CG-4306-01 COSM4067486 c.295C>T p.R99W Substitution - Missense 17:49619291-49619291 - SWE-12 COSM219965 c.397T>G p.F133V Substitution - Missense 17:49619064-49619064 - T56 COSM1177847 c.240C>G p.S80R Substitution - Missense 17:49619346-49619346 - TCGA-G9-6338-01 COSM3672491 c.311T>C p.F104S Substitution - Missense 17:49619275-49619275 - PT33 COSM5909633 c.448C>T p.L150F Substitution - Missense 17:49619013-49619013 - 2443926 COSM241746 c.260A>C p.Y87S Substitution - Missense 17:49619326-49619326 - PD11336a COSM5767027 c.792A>G p.P264P Substitution - coding silent 17:49607295-49607295 - TCGA-B5-A11Y-01 COSM980810 c.393G>T p.W131C Substitution - Missense 17:49619068-49619068 - SC_9021 COSM95272 c.399C>G p.F133L Substitution - Missense 17:49619062-49619062 - TCGA-BS-A0UA-01 COSM980811 c.362G>A p.R121Q Substitution - Missense 17:49619099-49619099 - CPCG0233-F1 COSM4420161 c.397T>A p.F133I Substitution - Missense 17:49619064-49619064 - 0066_CRUK_PC_0066_T1_DNA COSM242645 c.398T>G p.F133C Substitution - Missense 17:49619063-49619063 - 113013 COSM95272 c.399C>G p.F133L Substitution - Missense 17:49619062-49619062 - SC_9100 COSM242640 c.259T>A p.Y87N Substitution - Missense 17:49619327-49619327 - TCGA-EJ-5505-01 COSM241746 c.260A>C p.Y87S Substitution - Missense 17:49619326-49619326 - TCGA-FV-A2QR-01 COSM4939038 c.716A>G p.N239S Substitution - Missense 17:49607371-49607371 - STID0000000508_A COSM219965 c.397T>G p.F133V Substitution - Missense 17:49619064-49619064 - TCGA-EJ-5531-01 COSM1130239 c.391T>C p.W131R Substitution - Missense 17:49619070-49619070 - Single_liver_8 COSM220066 c.305T>G p.F102C Substitution - Missense 17:49619281-49619281 - 2453268 COSM248681 c.260A>G p.Y87C Substitution - Missense 17:49619326-49619326 - 2274326 COSM980812 c.349A>G p.M117V Substitution - Missense 17:49619237-49619237 - CHC306T COSM251147 c.408C>G p.F136L Substitution - Missense 17:49619053-49619053 - TCGA-BG-A0M7-01 COSM980814 c.309A>C p.K103N Substitution - Missense 17:49619277-49619277 - TCGA-BS-A0UA-01 COSM980809 c.418G>A p.D140N Substitution - Missense 17:49619043-49619043 - 2461407 COSM95272 c.399C>G p.F133L Substitution - Missense 17:49619062-49619062 - P07-837 COSM95272 c.399C>G p.F133L Substitution - Missense 17:49619062-49619062 - HCT15 COSM2698398 c.431A>G p.D144G Substitution - Missense 17:49619030-49619030 - P04-2599 COSM247573 c.398T>C p.F133S Substitution - Missense 17:49619063-49619063 - 0060_CRUK_PC_0060_T1_DNA COSM980810 c.393G>T p.W131C Substitution - Missense 17:49619068-49619068 - PR-2915 COSM219965 c.397T>G p.F133V Substitution - Missense 17:49619064-49619064 - TCGA-KK-A6E0-01 COSM4420161 c.397T>A p.F133I Substitution - Missense 17:49619064-49619064 - CHC892T COSM4798378 c.608G>A p.C203Y Substitution - Missense 17:49611330-49611330 - TCGA-KK-A59Z-01 COSM242645 c.398T>G p.F133C Substitution - Missense 17:49619063-49619063 - 2461404 COSM95272 c.399C>G p.F133L Substitution - Missense 17:49619062-49619062 - P09-649 COSM247572 c.356G>A p.S119N Substitution - Missense 17:49619105-49619105 - 2444686 COSM1290717 c.388G>A p.D130N Substitution - Missense 17:49619073-49619073 - tumor_4176133 COSM3356932 c.224G>T p.G75V Substitution - Missense 17:49619362-49619362 - HB3 COSM247572 c.356G>A p.S119N Substitution - Missense 17:49619105-49619105 - TCGA-CD-8536-01 COSM4067487 c.138G>T p.E46D Substitution - Missense 17:49622008-49622008 - TCGA-AX-A062-01 COSM980809 c.418G>A p.D140N Substitution - Missense 17:49619043-49619043 - PT16_1 COSM5898555 c.218C>T p.P73L Substitution - Missense 17:49619368-49619368 - MM09T COSM980815 c.232G>A p.E78K Substitution - Missense 17:49619354-49619354 - 3N53-VS-3T53 COSM4983572 c.223G>C p.G75R Substitution - Missense 17:49619363-49619363 - SWE-53 COSM242641 c.391T>G p.W131G Substitution - Missense 17:49619070-49619070 - TCGA-D1-A0ZQ-01 COSM980805 c.845T>G p.L282R Substitution - Missense 17:49602000-49602000 - TCGA-B5-A0JY-01 COSM980819 c.140A>C p.E47A Substitution - Missense 17:49622006-49622006 - 2461409 COSM95272 c.399C>G p.F133L Substitution - Missense 17:49619062-49619062 - LuCaP_147 COSM5414799 c.248A>G p.Y83C Substitution - Missense 17:49619338-49619338 - TCGA-EJ-5509-01 COSM242645 c.398T>G p.F133C Substitution - Missense 17:49619063-49619063 - 2444692 COSM219965 c.397T>G p.F133V Substitution - Missense 17:49619064-49619064 - TCGA-EJ-7123-01 COSM220066 c.305T>G p.F102C Substitution - Missense 17:49619281-49619281 - 2444691 COSM242641 c.391T>G p.W131G Substitution - Missense 17:49619070-49619070 - T263 COSM4729694 c.998_999insT p.L333fs*19 Insertion - Frameshift 17:49600504-49600505 - 0001_CRUK_PC_0001_T1_DNA COSM95272 c.399C>G p.F133L Substitution - Missense 17:49619062-49619062 - OSCC-GB_00610111 COSM4886681 c.306C>G p.F102L Substitution - Missense 17:49619280-49619280 - 2461405 COSM95272 c.399C>G p.F133L Substitution - Missense 17:49619062-49619062 - WA27 COSM241746 c.260A>C p.Y87S Substitution - Missense 17:49619326-49619326 - TCGA-CG-4306-01 COSM4067488 c.24A>G p.P8P Substitution - coding silent 17:49622787-49622787 - BK0043 COSM4187576 c.597C>A p.F199L Substitution - Missense 17:49611341-49611341 - WA10 COSM241745 c.364_366delGCA p.A122delA Deletion - In frame 17:49619095-49619097 - S02295 COSM5689128 c.704A>T p.E235V Substitution - Missense 17:49607884-49607884 - TCGA-G9-6333-01 COSM247571 c.399C>A p.F133L Substitution - Missense 17:49619062-49619062 - PR-3043 COSM220066 c.305T>G p.F102C Substitution - Missense 17:49619281-49619281 - TCGA-A5-A0RA-01 COSM980821 c.133C>T p.R45W Substitution - Missense 17:49622013-49622013 - STID0000002525_A COSM242640 c.259T>A p.Y87N Substitution - Missense 17:49619327-49619327 - TCGA-39-5022-01 COSM707008 c.583G>T p.E195* Substitution - Nonsense 17:49611355-49611355 - TCGA-FI-A2EW-01 COSM980811 c.362G>A p.R121Q Substitution - Missense 17:49619099-49619099 - 2461397 COSM95272 c.399C>G p.F133L Substitution - Missense 17:49619062-49619062 - PR-2740 COSM247571 c.399C>A p.F133L Substitution - Missense 17:49619062-49619062 - FM403T COSM673850 c.223G>A p.G75R Substitution - Missense 17:49619363-49619363 - OCC05PT COSM88679 c.139G>A p.E47K Substitution - Missense 17:49622007-49622007 - CPCG0042-F1 COSM219965 c.397T>G p.F133V Substitution - Missense 17:49619064-49619064 - 2453269 COSM95272 c.399C>G p.F133L Substitution - Missense 17:49619062-49619062 - SC_9008 COSM220066 c.305T>G p.F102C Substitution - Missense 17:49619281-49619281 - TCGA-EJ-7782-01 COSM3783066 c.1103G>A p.R368H Substitution - Missense 17:49600400-49600400 - TCGA-UB-A7MB-01 COSM4932470 c.980A>G p.Y327C Substitution - Missense 17:49601865-49601865 - T154 COSM980811 c.362G>A p.R121Q Substitution - Missense 17:49619099-49619099 - TCGA-A2-A0CR-01 COSM3819898 c.353-1G>A p.? Unknown 17:49619109-49619109 - TCGA-FN-7833-01 COSM3970127 c.563A>C p.D188A Substitution - Missense 17:49611375-49611375 - TCGA-D1-A17D-01 COSM980818 c.148G>A p.E50K Substitution - Missense 17:49621998-49621998 - Left_rib COSM220066 c.305T>G p.F102C Substitution - Missense 17:49619281-49619281 - TCGA-E9-A1NI-01 COSM5833325 c.564delT p.D188fs*3 Deletion - Frameshift 17:49611374-49611374 - TCGA-DI-A1NN-01 COSM980812 c.349A>G p.M117V Substitution - Missense 17:49619237-49619237 - TCGA-EM-A3FR-01 COSM3370781 c.281C>G p.P94R Substitution - Missense 17:49619305-49619305 - 587256 COSM1227420 c.181G>A p.A61T Substitution - Missense 17:49621965-49621965 - 2461406 COSM95272 c.399C>G p.F133L Substitution - Missense 17:49619062-49619062 - T2269 COSM4729696 c.424C>A p.L142I Substitution - Missense 17:49619037-49619037 - MM02T COSM980812 c.349A>G p.M117V Substitution - Missense 17:49619237-49619237 - TCGA-J9-A52D-01 COSM4420161 c.397T>A p.F133I Substitution - Missense 17:49619064-49619064 - TCGA-EE-A2GJ-06 COSM3518933 c.667C>T p.P223S Substitution - Missense 17:49607921-49607921 - T3225 COSM4729698 c.209G>A p.R70Q Substitution - Missense 17:49619377-49619377 - EPE COSM220066 c.305T>G p.F102C Substitution - Missense 17:49619281-49619281 - SWE-2A COSM95272 c.399C>G p.F133L Substitution - Missense 17:49619062-49619062 - PR-01-2492 COSM242645 c.398T>G p.F133C Substitution - Missense 17:49619063-49619063 - LuCaP_147 COSM5414799 c.248A>G p.Y83C Substitution - Missense 17:49619338-49619338 - S01516 COSM5669047 c.743C>T p.P248L Substitution - Missense 17:49607344-49607344 - TCGA-HC-8261-01 COSM95272 c.399C>G p.F133L Substitution - Missense 17:49619062-49619062 - TCGA-D1-A0ZO-01 COSM980820 c.136G>A p.E46K Substitution - Missense 17:49622010-49622010 - TP_2060 COSM242641 c.391T>G p.W131G Substitution - Missense 17:49619070-49619070 - YUWAND COSM1710449 c.661C>T p.R221C Substitution - Missense 17:49607927-49607927 - 56572 COSM1582972 c.1080G>T p.Q360H Substitution - Missense 17:49600423-49600423 - LIM2405 COSM95273 c.373T>G p.F125V Substitution - Missense 17:49619088-49619088 - OV208PT COSM88679 c.139G>A p.E47K Substitution - Missense 17:49622007-49622007 - S02286 COSM5685256 c.1031C>T p.S344L Substitution - Missense 17:49600472-49600472 - TCGA-UB-A7MB-01 COSM4931966 c.103A>T p.M35L Substitution - Missense 17:49622043-49622043 - 112 COSM5013192 c.371G>C p.R124T Substitution - Missense 17:49619090-49619090 - CPCG0183-P2 COSM247573 c.398T>C p.F133S Substitution - Missense 17:49619063-49619063 - 2453218 COSM980822 c.41C>T p.S14L Substitution - Missense 17:49622770-49622770 - 8044719 COSM3388004 c.700G>A p.E234K Substitution - Missense 17:49607888-49607888 - CPCG_0183_Pr_P_F0 COSM247573 c.398T>C p.F133S Substitution - Missense 17:49619063-49619063 - 0077_CRUK_PC_0077_T1_DNA COSM248681 c.260A>G p.Y87C Substitution - Missense 17:49619326-49619326 - CHC306T COSM251147 c.408C>G p.F136L Substitution - Missense 17:49619053-49619053 - SC_9103 COSM242645 c.398T>G p.F133C Substitution - Missense 17:49619063-49619063 - TCGA-B5-A0K0-01 COSM980818 c.148G>A p.E50K Substitution - Missense 17:49621998-49621998 - CPCG0236-F1 COSM247573 c.398T>C p.F133S Substitution - Missense 17:49619063-49619063 - MO_1336 COSM4393128 c.304T>G p.F102V Substitution - Missense 17:49619282-49619282 - B65-Tumor COSM1750122 c.273C>T p.V91V Substitution - coding silent 17:49619313-49619313 - 2444690 COSM95272 c.399C>G p.F133L Substitution - Missense 17:49619062-49619062 - EV006-R6 COSM4410917 c.173C>T p.S58L Substitution - Missense 17:49621973-49621973 - CPCG0020-F1 COSM95272 c.399C>G p.F133L Substitution - Missense 17:49619062-49619062 - 2461402 COSM95272 c.399C>G p.F133L Substitution - Missense 17:49619062-49619062 - TCGA-D8-A147-01 COSM436808 c.601G>C p.D201H Substitution - Missense 17:49611337-49611337 - 2448381 COSM248681 c.260A>G p.Y87C Substitution - Missense 17:49619326-49619326 - DLD1 COSM2698398 c.431A>G p.D144G Substitution - Missense 17:49619030-49619030 - 0026_CRUK_PC_0026_T1_DNA COSM95272 c.399C>G p.F133L Substitution - Missense 17:49619062-49619062 - MO_1074 COSM219965 c.397T>G p.F133V Substitution - Missense 17:49619064-49619064 - TCGA-AX-A063-01 COSM980803 c.1107_1108insA p.R370fs*>6 Insertion - Frameshift 17:49600395-49600396 - 2521249 COSM5888355 c.946C>T p.Q316* Substitution - Nonsense 17:49601899-49601899 - 2461399 COSM95272 c.399C>G p.F133L Substitution - Missense 17:49619062-49619062 - SC_9094 COSM247572 c.356G>A p.S119N Substitution - Missense 17:49619105-49619105 - TCGA-DD-A113-01 COSM4925262 c.1067T>A p.L356Q Substitution - Missense 17:49600436-49600436 - TCGA-KK-A59X-01 COSM220066 c.305T>G p.F102C Substitution - Missense 17:49619281-49619281 - Single_liver_4 COSM220066 c.305T>G p.F102C Substitution - Missense 17:49619281-49619281 - Pat_30_B COSM5852862 c.757G>T p.E253* Substitution - Nonsense 17:49607330-49607330 - TCGA-CD-A4MI-01 COSM4067485 c.904G>A p.A302T Substitution - Missense 17:49601941-49601941 - PR-2661 COSM219965 c.397T>G p.F133V Substitution - Missense 17:49619064-49619064 - TCGA-D3-A2JL-06 COSM3518932 c.771C>T p.F257F Substitution - coding silent 17:49607316-49607316 - YUWAGE COSM1710450 c.25_26CC>TT p.P9F Substitution - Missense 17:49622785-49622786 - TCGA-FC-7961-01 COSM242645 c.398T>G p.F133C Substitution - Missense 17:49619063-49619063 - YURAY COSM5386625 c.590C>T p.S197F Substitution - Missense 17:49611348-49611348 - Left_clavicle_LN COSM220066 c.305T>G p.F102C Substitution - Missense 17:49619281-49619281 - CPCG0099-F1 COSM219965 c.397T>G p.F133V Substitution - Missense 17:49619064-49619064 - TCGA-GV-A3JX-01 COSM1302981 c.79-1G>T p.? Unknown 17:49622068-49622068 - tumor_4105746 COSM5946391 c.350T>G p.M117R Substitution - Missense 17:49619236-49619236 - TCGA-D1-A168-01 COSM980815 c.232G>A p.E78K Substitution - Missense 17:49619354-49619354 - 2448385 COSM5414802 c.318C>T p.I106I Substitution - coding silent 17:49619268-49619268 - CPCG_0099_Pr_P_F0 COSM219965 c.397T>G p.F133V Substitution - Missense 17:49619064-49619064 - TCGA-EJ-7330-01 COSM247571 c.399C>A p.F133L Substitution - Missense 17:49619062-49619062 - TCGA-AC-A5XS-01 COSM4390969 c.28C>A p.P10T Substitution - Missense 17:49622783-49622783 - T578 COSM4729697 c.412C>T p.R138C Substitution - Missense 17:49619049-49619049 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.740407 17q21.33 602650

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.F102C c.305T>G 17 47696643 PRAD A C Missense p.F102V c.304T>G 17 47696644 PRAD A C Missense p.F133C c.398T>G 17 47696425 PRAD A C Missense p.F133V c.397T>G 17 47696426 PRAD A C Missense p.L282R c.845T>G 17 47679362 UCEC A C Missense p.W131G c.391T>G 17 47696432 PRAD A G Missense p.F104S c.311T>C 17 47696637 PRAD A G Missense p.F133L c.397T>C 17 47696426 PRAD A G Missense p.F133S c.398T>C 17 47696425 PRAD A - IntronicDeletion . c.353-12delT 17 47696482 STAD A T Missense p.F104I c.310T>A 17 47696638 MM A T Missense p.F133I c.397T>A 17 47696426 PRAD C A IntronicSNV . c.1-21632G>T 17 47721804 CLL C A Missense p.A281S c.841G>T 17 47679366 HNSC C A Missense p.W131C c.393G>T 17 47696430 UCEC C A Nonsense p.E195* c.583G>T 17 47688717 LUSC C A Nonsense p.E234* c.700G>T 17 47685250 STAD C A Nonsense p.E249* c.745G>T 17 47684704 OV C A SpliceAcceptorSNV . c.79-1G>T 17 47699430 BLCA CC AA Missense p.G75L c.223_224delinsTT 17 47696724 LUAD - CCAC Frameshift p.P17Gfs*5 c.47_48insTGGG 17 47700126 HNSC C G Missense p.D201H c.601G>C 17 47688699 BRCA C G Missense p.W131S c.392G>C 17 47696431 PRAD C T Missense p.D130N c.388G>A 17 47696435 CLL C T Missense p.D140N c.418G>A 17 47696405 UCEC C T Missense p.E46K c.136G>A 17 47699372 UCEC C T Missense p.E50K c.148G>A 17 47699360 UCEC C T Missense p.E78K c.232G>A 17 47696716 UCEC C T Missense p.R121Q c.362G>A 17 47696461 UCEC G A 3-UTRSNV . c.1122+203C>T 17 47677540 CM G A 3-UTRSNV . c.1122+7C>T 17 47677736 CM GA AT Missense p.F199Y c.596_597delinsAT 17 47688703 CM G A Missense p.P223S c.667C>T 17 47685283 CM G A Missense p.R45W c.133C>T 17 47699375 UCEC G A Missense p.R99W c.295C>T 17 47696653 CM G A Missense p.R99W c.295C>T 17 47696653 STAD G A Nonsense p.R70* c.208C>T 17 47696740 UCEC G A Synonymous p.F136F c.408C>T 17 47696415 CM G A Synonymous p.F257F c.771C>T 17 47684678 CM G C Missense p.F133L c.399C>G 17 47696424 PRAD G C Missense p.P94R c.281C>G 17 47696667 THCA G C Synonymous p.P73P c.219C>G 17 47696729 HNSC G T Missense p.F133L c.399C>A 17 47696424 PRAD G T Nonsense p.S59* c.176C>A 17 47699332 UCEC T C 3-UTRSNV . c.1122+521A>G 17 47677222 HC T C Missense p.D140G c.419A>G 17 47696404 UCEC T C Missense p.M117V c.349A>G 17 47696599 UCEC T C Missense p.Q212R c.635A>G 17 47688665 HNSC T C Missense p.Y87C c.260A>G 17 47696688 PRAD T C Synonymous p.P8P c.24A>G 17 47700149 STAD - T Frameshift p.R370Tfs*9 c.1107dupA 17 47677758 UCEC TGCCCG - InFrameDeletion p.R121_A122delRA c.361_366delCGGGCA 17 47696457 PRAD T G Missense p.D188A c.563A>C 17 47688737 LGG T G Missense p.K103N c.309A>C 17 47696639 UCEC T G Missense p.Y87S c.260A>C 17 47696688 PRAD