Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 17 57139965 57139965 + Missense_Mutation SNP T T C TCGA-OR-A5JY-01A-31D-A29I-10 TCGA-OR-A5JY-10A-01D-A29L-10 g.chr17:57139965T>C c.905A>G c.(904-906)cAa>cGa p.Q302R BLCA 17 57076776 57076776 + Missense_Mutation SNP C C A TCGA-XF-AAN5-01A-11D-A42E-08 TCGA-XF-AAN5-10A-01D-A42H-08 g.chr17:57076776C>A c.2857G>T c.(2857-2859)Gat>Tat p.D953Y BLCA 17 57076800 57076800 + Missense_Mutation SNP C C G TCGA-XF-AAN5-01A-11D-A42E-08 TCGA-XF-AAN5-10A-01D-A42H-08 g.chr17:57076800C>G c.2833G>C c.(2833-2835)Gat>Cat p.D945H BLCA 17 57076821 57076821 + Splice_Site SNP C C T TCGA-XF-AAN5-01A-11D-A42E-08 TCGA-XF-AAN5-10A-01D-A42H-08 g.chr17:57076821C>T c.e24-1 BLCA 17 57089713 57089713 + Nonsense_Mutation SNP C C A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 g.chr17:57089713C>A c.2671G>T c.(2671-2673)Gga>Tga p.G891* BLCA 17 57089751 57089751 + Missense_Mutation SNP T T A TCGA-ZF-A9RC-01A-11D-A38G-08 TCGA-ZF-A9RC-10A-01D-A38J-08 g.chr17:57089751T>A c.2633A>T c.(2632-2634)aAt>aTt p.N878I BLCA 17 57105805 57105805 + Missense_Mutation SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 g.chr17:57105805G>A c.2228C>T c.(2227-2229)tCa>tTa p.S743L BLCA 17 57109287 57109287 + Missense_Mutation SNP G G A TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 g.chr17:57109287G>A c.1918C>T c.(1918-1920)Cgc>Tgc p.R640C BLCA 17 57126654 57126654 + Missense_Mutation SNP G G A TCGA-CU-A5W6-01A-11D-A289-08 TCGA-CU-A5W6-10A-01D-A289-08 g.chr17:57126654G>A c.1415C>T c.(1414-1416)gCt>gTt p.A472V BLCA 17 57138417 57138417 + Missense_Mutation SNP G G A TCGA-E5-A4TZ-01A-11D-A31L-08 TCGA-E5-A4TZ-10B-01D-A31J-08 g.chr17:57138417G>A c.995C>T c.(994-996)tCa>tTa p.S332L BLCA 17 57139956 57139956 + Missense_Mutation SNP C C A TCGA-XF-A9SW-01A-11D-A42E-08 TCGA-XF-A9SW-10A-01D-A42H-08 g.chr17:57139956C>A c.914G>T c.(913-915)gGa>gTa p.G305V BLCA 17 57148206 57148206 + Missense_Mutation SNP G G A TCGA-C4-A0F1-01A-11D-A10S-08 TCGA-C4-A0F1-10A-01D-A10S-08 g.chr17:57148206G>A c.787C>T c.(787-789)Cct>Tct p.P263S BLCA 17 57148277 57148277 + Missense_Mutation SNP G G C TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 g.chr17:57148277G>C c.716C>G c.(715-717)tCt>tGt p.S239C BLCA 17 57148305 57148305 + Missense_Mutation SNP G G A TCGA-4Z-AA89-01A-11D-A391-08 TCGA-4Z-AA89-10A-01D-A394-08 g.chr17:57148305G>A c.688C>T c.(688-690)Cgg>Tgg p.R230W BLCA 17 57157119 57157119 + Silent SNP C C T TCGA-K4-AAQO-01A-11D-A38G-08 TCGA-K4-AAQO-10A-01D-A38J-08 g.chr17:57157119C>T c.612G>A c.(610-612)ctG>ctA p.L204L BLCA 17 57157164 57157164 + Missense_Mutation SNP C C G TCGA-XF-A9T0-01A-11D-A391-08 TCGA-XF-A9T0-10A-01D-A394-08 g.chr17:57157164C>G c.567G>C c.(565-567)atG>atC p.M189I BLCA 17 57181659 57181659 + Missense_Mutation SNP T T C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 g.chr17:57181659T>C c.118A>G c.(118-120)Att>Gtt p.I40V BRCA 17 57094720 57094720 + Nonsense_Mutation SNP G G A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr17:57094720G>A c.2323C>T c.(2323-2325)Cga>Tga p.R775* BRCA 17 57126636 57126636 + Missense_Mutation SNP G G C TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 g.chr17:57126636G>C c.1433C>G c.(1432-1434)tCt>tGt p.S478C BRCA 17 57139966 57139966 + Missense_Mutation SNP G G C TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 g.chr17:57139966G>C c.904C>G c.(904-906)Caa>Gaa p.Q302E BRCA 17 57165759 57165759 + Silent SNP G G C TCGA-JL-A3YX-01A-11D-A22X-09 TCGA-JL-A3YX-10A-01D-A22X-09 g.chr17:57165759G>C c.174C>G c.(172-174)ctC>ctG p.L58L CESC 17 57106026 57106026 + Silent SNP G G T TCGA-C5-A2LS-01A-22D-A22X-09 TCGA-C5-A2LS-10A-01D-A22X-09 g.chr17:57106026G>T c.2007C>A c.(2005-2007)ccC>ccA p.P669P CESC 17 57134235 57134235 + Splice_Site SNP C C T TCGA-Q1-A6DT-01A-11D-A32I-09 TCGA-Q1-A6DT-10A-01D-A32I-09 g.chr17:57134235C>T c.e13+1 CESC 17 57139987 57139987 + Missense_Mutation SNP G G T TCGA-C5-A1MK-01A-11D-A14W-08 TCGA-C5-A1MK-10A-01D-A14W-08 g.chr17:57139987G>T c.883C>A c.(883-885)Cct>Act p.P295T COAD 17 57076783 57076783 + Silent SNP G G A TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr17:57076783G>A c.2850C>T c.(2848-2850)ggC>ggT p.G950G COAD 17 57078967 57078967 + Frame_Shift_Del DEL G G - TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr17:57078967delG c.2804delC c.(2803-2805)ccgfs p.P935fs COAD 17 57079063 57079063 + Missense_Mutation SNP T T C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr17:57079063T>C c.2708A>G c.(2707-2709)gAc>gGc p.D903G COAD 17 57089695 57089695 + Missense_Mutation SNP C C T TCGA-G4-6310-01A-11D-1719-10 TCGA-G4-6310-10A-01D-1720-10 g.chr17:57089695C>T c.2689G>A c.(2689-2691)Gaa>Aaa p.E897K COAD 17 57093004 57093004 + Missense_Mutation SNP G G A TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chr17:57093004G>A c.2543C>T c.(2542-2544)gCg>gTg p.A848V COAD 17 57093160 57093160 + Splice_Site SNP C C T TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chr17:57093160C>T c.2387G>A c.(2386-2388)gGc>gAc p.G796D COAD 17 57105965 57105965 + Missense_Mutation SNP T T C TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr17:57105965T>C c.2068A>G c.(2068-2070)Act>Gct p.T690A COAD 17 57106034 57106034 + Nonsense_Mutation SNP G G A TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr17:57106034G>A c.1999C>T c.(1999-2001)Cga>Tga p.R667* COAD 17 57109446 57109446 + Missense_Mutation SNP T T A TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr17:57109446T>A c.1759A>T c.(1759-1761)Agc>Tgc p.S587C COAD 17 57119244 57119244 + Silent SNP A A G TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr17:57119244A>G c.1683T>C c.(1681-1683)gaT>gaC p.D561D COAD 17 57128677 57128677 + Silent SNP A A G TCGA-A6-4105-01A-02D-1771-10 TCGA-A6-4105-10A-01D-1771-10 g.chr17:57128677A>G c.1212T>C c.(1210-1212)cgT>cgC p.R404R COAD 17 57128677 57128677 + Silent SNP A A G TCGA-G4-6323-01A-11D-1719-10 TCGA-G4-6323-10A-01D-1720-10 g.chr17:57128677A>G c.1212T>C c.(1210-1212)cgT>cgC p.R404R COAD 17 57128678 57128678 + Missense_Mutation SNP C C A TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr17:57128678C>A c.1211G>T c.(1210-1212)cGt>cTt p.R404L COAD 17 57128679 57128679 + Missense_Mutation SNP G G A TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr17:57128679G>A c.1210C>T c.(1210-1212)Cgt>Tgt p.R404C COAD 17 57148194 57148194 + Missense_Mutation SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr17:57148194C>T c.799G>A c.(799-801)Gac>Aac p.D267N COAD 17 57153052 57153052 + Nonsense_Mutation SNP C C A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr17:57153052C>A c.640G>T c.(640-642)Gaa>Taa p.E214* COAD 17 57157115 57157115 + Splice_Site SNP C C A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr17:57157115C>A c.616G>T c.(616-618)Ggt>Tgt p.G206C COAD 17 57157163 57157163 + Missense_Mutation SNP T T G TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr17:57157163T>G c.568A>C c.(568-570)Att>Ctt p.I190L COAD 17 57157199 57157199 + Missense_Mutation SNP G G A TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr17:57157199G>A c.532C>T c.(532-534)Cgt>Tgt p.R178C COAD 17 57157216 57157216 + Missense_Mutation SNP C C A TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr17:57157216C>A c.515G>T c.(514-516)aGa>aTa p.R172I COAD 17 57161432 57161432 + Missense_Mutation SNP T T G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr17:57161432T>G c.300A>C c.(298-300)gaA>gaC p.E100D COAD 17 57165733 57165733 + Missense_Mutation SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr17:57165733C>T c.200G>A c.(199-201)cGt>cAt p.R67H COAD 17 57165742 57165742 + Missense_Mutation SNP A A G TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr17:57165742A>G c.191T>C c.(190-192)gTa>gCa p.V64A COAD 17 57165759 57165759 + Silent SNP G G C TCGA-DM-A285-01A-11D-A16V-10 TCGA-DM-A285-10A-01D-A16V-10 g.chr17:57165759G>C c.174C>G c.(172-174)ctC>ctG p.L58L COAD 17 57181754 57181754 + Splice_Site SNP C C G TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr17:57181754C>G c.23G>C c.(22-24)aGc>aCc p.S8T COADREAD 17 57076783 57076783 + Silent SNP G G A TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr17:57076783G>A c.2850C>T c.(2848-2850)ggC>ggT p.G950G COADREAD 17 57078967 57078967 + Frame_Shift_Del DEL G G - TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr17:57078967delG c.2804delC c.(2803-2805)ccgfs p.P935fs COADREAD 17 57079063 57079063 + Missense_Mutation SNP T T C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr17:57079063T>C c.2708A>G c.(2707-2709)gAc>gGc p.D903G COADREAD 17 57089695 57089695 + Missense_Mutation SNP C C T TCGA-G4-6310-01A-11D-1719-10 TCGA-G4-6310-10A-01D-1720-10 g.chr17:57089695C>T c.2689G>A c.(2689-2691)Gaa>Aaa p.E897K COADREAD 17 57093004 57093004 + Missense_Mutation SNP G G A TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chr17:57093004G>A c.2543C>T c.(2542-2544)gCg>gTg p.A848V COADREAD 17 57093160 57093160 + Splice_Site SNP C C T TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chr17:57093160C>T c.2387G>A c.(2386-2388)gGc>gAc p.G796D COADREAD 17 57105781 57105781 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr17:57105781C>T c.2252G>A c.(2251-2253)cGa>cAa p.R751Q COADREAD 17 57105965 57105965 + Missense_Mutation SNP T T C TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr17:57105965T>C c.2068A>G c.(2068-2070)Act>Gct p.T690A COADREAD 17 57106034 57106034 + Nonsense_Mutation SNP G G A TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr17:57106034G>A c.1999C>T c.(1999-2001)Cga>Tga p.R667* COADREAD 17 57109344 57109344 + Missense_Mutation SNP G G A TCGA-AG-3594-01A-02W-0831-10 TCGA-AG-3594-10A-01W-0831-10 g.chr17:57109344G>A c.1861C>T c.(1861-1863)Cat>Tat p.H621Y COADREAD 17 57109446 57109446 + Missense_Mutation SNP T T A TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr17:57109446T>A c.1759A>T c.(1759-1761)Agc>Tgc p.S587C COADREAD 17 57119244 57119244 + Silent SNP A A G TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr17:57119244A>G c.1683T>C c.(1681-1683)gaT>gaC p.D561D COADREAD 17 57125156 57125156 + Missense_Mutation SNP C C T TCGA-DC-6682-01A-11D-1826-10 TCGA-DC-6682-10A-01D-1826-10 g.chr17:57125156C>T c.1555G>A c.(1555-1557)Gat>Aat p.D519N COADREAD 17 57126578 57126578 + Silent SNP A A G TCGA-EI-6506-01A-11D-1733-10 TCGA-EI-6506-10A-01D-1733-10 g.chr17:57126578A>G c.1491T>C c.(1489-1491)gaT>gaC p.D497D COADREAD 17 57128677 57128677 + Silent SNP A A G TCGA-A6-4105-01A-02D-1771-10 TCGA-A6-4105-10A-01D-1771-10 g.chr17:57128677A>G c.1212T>C c.(1210-1212)cgT>cgC p.R404R COADREAD 17 57128677 57128677 + Silent SNP A A G TCGA-G4-6323-01A-11D-1719-10 TCGA-G4-6323-10A-01D-1720-10 g.chr17:57128677A>G c.1212T>C c.(1210-1212)cgT>cgC p.R404R COADREAD 17 57128678 57128678 + Missense_Mutation SNP C C A TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr17:57128678C>A c.1211G>T c.(1210-1212)cGt>cTt p.R404L COADREAD 17 57128679 57128679 + Missense_Mutation SNP G G A TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr17:57128679G>A c.1210C>T c.(1210-1212)Cgt>Tgt p.R404C COADREAD 17 57148194 57148194 + Missense_Mutation SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr17:57148194C>T c.799G>A c.(799-801)Gac>Aac p.D267N COADREAD 17 57153052 57153052 + Nonsense_Mutation SNP C C A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr17:57153052C>A c.640G>T c.(640-642)Gaa>Taa p.E214* COADREAD 17 57157115 57157115 + Splice_Site SNP C C A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr17:57157115C>A c.616G>T c.(616-618)Ggt>Tgt p.G206C COADREAD 17 57157163 57157163 + Missense_Mutation SNP T T G TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr17:57157163T>G c.568A>C c.(568-570)Att>Ctt p.I190L COADREAD 17 57157199 57157199 + Missense_Mutation SNP G G A TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr17:57157199G>A c.532C>T c.(532-534)Cgt>Tgt p.R178C COADREAD 17 57157216 57157216 + Missense_Mutation SNP C C A TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr17:57157216C>A c.515G>T c.(514-516)aGa>aTa p.R172I COADREAD 17 57161432 57161432 + Missense_Mutation SNP T T G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr17:57161432T>G c.300A>C c.(298-300)gaA>gaC p.E100D COADREAD 17 57165733 57165733 + Missense_Mutation SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr17:57165733C>T c.200G>A c.(199-201)cGt>cAt p.R67H COADREAD 17 57165742 57165742 + Missense_Mutation SNP A A G TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr17:57165742A>G c.191T>C c.(190-192)gTa>gCa p.V64A COADREAD 17 57165759 57165759 + Silent SNP G G C TCGA-DM-A285-01A-11D-A16V-10 TCGA-DM-A285-10A-01D-A16V-10 g.chr17:57165759G>C c.174C>G c.(172-174)ctC>ctG p.L58L COADREAD 17 57181754 57181754 + Splice_Site SNP C C G TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr17:57181754C>G c.23G>C c.(22-24)aGc>aCc p.S8T ESCA 17 57079002 57079002 + Silent SNP C C A TCGA-2H-A9GH-01A-11D-A37C-09 TCGA-2H-A9GH-11A-11D-A37F-09 g.chr17:57079002C>A c.2769G>T c.(2767-2769)ggG>ggT p.G923G ESCA 17 57109426 57109426 + Silent SNP G G A TCGA-LN-A7HZ-01A-31D-A351-09 TCGA-LN-A7HZ-10A-01D-A351-09 g.chr17:57109426G>A c.1779C>T c.(1777-1779)tcC>tcT p.S593S ESCA 17 57138450 57138450 + Missense_Mutation SNP C C A TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 g.chr17:57138450C>A c.962G>T c.(961-963)cGa>cTa p.R321L GBMLGG 17 57093036 57093036 + Silent SNP A A T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:57093036A>T c.2511T>A c.(2509-2511)gcT>gcA p.A837A GBMLGG 17 57153020 57153020 + Missense_Mutation SNP C C A TCGA-HT-A5R9-01A-11D-A289-08 TCGA-HT-A5R9-10A-01D-A289-08 g.chr17:57153020C>A c.672G>T c.(670-672)gaG>gaT p.E224D GBMLGG 17 57158493 57158493 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:57158493G>A c.457C>T c.(457-459)Cgt>Tgt p.R153C HNSC 17 57093003 57093003 + Silent SNP C C T TCGA-F7-A50G-01A-11D-A25Y-08 TCGA-F7-A50G-10A-01D-A25Y-08 g.chr17:57093003C>T c.2544G>A c.(2542-2544)gcG>gcA p.A848A HNSC 17 57119177 57119177 + Missense_Mutation SNP C C A TCGA-CX-7219-01A-11D-2012-08 TCGA-CX-7219-10A-01D-2013-08 g.chr17:57119177C>A c.1750G>T c.(1750-1752)Gca>Tca p.A584S HNSC 17 57125153 57125153 + Silent SNP G G A TCGA-CQ-5323-01A-01D-1683-08 TCGA-CQ-5323-10A-01D-1683-08 g.chr17:57125153G>A c.1558C>T c.(1558-1560)Ctg>Ttg p.L520L HNSC 17 57158492 57158492 + Missense_Mutation SNP C C T TCGA-D6-6825-01A-21D-1912-08 TCGA-D6-6825-10A-01D-1912-08 g.chr17:57158492C>T c.458G>A c.(457-459)cGt>cAt p.R153H HNSC 17 57158574 57158574 + Missense_Mutation SNP C C G TCGA-BA-A6DA-01A-31D-A31L-08 TCGA-BA-A6DA-10A-01D-A31J-08 g.chr17:57158574C>G c.376G>C c.(376-378)Gga>Cga p.G126R HNSC 17 57165711 57165711 + Silent SNP T T C TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 g.chr17:57165711T>C c.222A>G c.(220-222)caA>caG p.Q74Q HNSC 17 57181722 57181722 + Missense_Mutation SNP T T C TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 g.chr17:57181722T>C c.55A>G c.(55-57)Atg>Gtg p.M19V KICH 17 57153067 57153067 + Missense_Mutation SNP T T C TCGA-KL-8331-01A-11D-2310-10 TCGA-KL-8331-11A-01D-2310-10 g.chr17:57153067T>C c.625A>G c.(625-627)Aca>Gca p.T209A KIPAN 17 57078973 57078974 + Frame_Shift_Del DEL TG TG - TCGA-A4-8515-01A-11D-2396-08 TCGA-A4-8515-10A-01D-2396-08 g.chr17:57078973_57078974delTG c.2797_2798delCA c.(2797-2799)cagfs p.Q933fs KIPAN 17 57078981 57078981 + Silent SNP G G A TCGA-CZ-5455-01A-01D-1501-10 TCGA-CZ-5455-11A-01D-1501-10 g.chr17:57078981G>A c.2790C>T c.(2788-2790)gtC>gtT p.V930V KIPAN 17 57079057 57079057 + Missense_Mutation SNP T T G TCGA-B0-5701-01A-11D-1534-10 TCGA-B0-5701-11A-01D-1534-10 g.chr17:57079057T>G c.2714A>C c.(2713-2715)gAc>gCc p.D905A KIPAN 17 57125063 57125063 + Missense_Mutation SNP C C A TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01D-0966-08 g.chr17:57125063C>A c.1648G>T c.(1648-1650)Gat>Tat p.D550Y KIPAN 17 57134407 57134407 + Missense_Mutation SNP T T C TCGA-IA-A40X-01A-11D-A25F-10 TCGA-IA-A40X-10A-01D-A25F-10 g.chr17:57134407T>C c.1028A>G c.(1027-1029)tAt>tGt p.Y343C KIPAN 17 57153067 57153067 + Missense_Mutation SNP T T C TCGA-KL-8331-01A-11D-2310-10 TCGA-KL-8331-11A-01D-2310-10 g.chr17:57153067T>C c.625A>G c.(625-627)Aca>Gca p.T209A KIPAN 17 57181741 57181741 + Silent SNP A A G TCGA-BP-4799-01A-01D-1373-10 TCGA-BP-4799-11A-01D-1373-10 g.chr17:57181741A>G c.36T>C c.(34-36)gtT>gtC p.V12V KIRC 17 57078981 57078981 + Silent SNP G G A TCGA-CZ-5455-01A-01D-1501-10 TCGA-CZ-5455-11A-01D-1501-10 g.chr17:57078981G>A c.2790C>T c.(2788-2790)gtC>gtT p.V930V KIRC 17 57079057 57079057 + Missense_Mutation SNP T T G TCGA-B0-5701-01A-11D-1534-10 TCGA-B0-5701-11A-01D-1534-10 g.chr17:57079057T>G c.2714A>C c.(2713-2715)gAc>gCc p.D905A KIRC 17 57125063 57125063 + Missense_Mutation SNP C C A TCGA-AS-3777-01A-01D-0966-08 TCGA-AS-3777-10A-01D-0966-08 g.chr17:57125063C>A c.1648G>T c.(1648-1650)Gat>Tat p.D550Y KIRC 17 57181741 57181741 + Silent SNP A A G TCGA-BP-4799-01A-01D-1373-10 TCGA-BP-4799-11A-01D-1373-10 g.chr17:57181741A>G c.36T>C c.(34-36)gtT>gtC p.V12V KIRP 17 57078973 57078974 + Frame_Shift_Del DEL TG TG - TCGA-A4-8515-01A-11D-2396-08 TCGA-A4-8515-10A-01D-2396-08 g.chr17:57078973_57078974delTG c.2797_2798delCA c.(2797-2799)cagfs p.Q933fs KIRP 17 57134407 57134407 + Missense_Mutation SNP T T C TCGA-IA-A40X-01A-11D-A25F-10 TCGA-IA-A40X-10A-01D-A25F-10 g.chr17:57134407T>C c.1028A>G c.(1027-1029)tAt>tGt p.Y343C LGG 17 57093036 57093036 + Silent SNP A A T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:57093036A>T c.2511T>A c.(2509-2511)gcT>gcA p.A837A LGG 17 57153020 57153020 + Missense_Mutation SNP C C A TCGA-HT-A5R9-01A-11D-A289-08 TCGA-HT-A5R9-10A-01D-A289-08 g.chr17:57153020C>A c.672G>T c.(670-672)gaG>gaT p.E224D LGG 17 57158493 57158493 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:57158493G>A c.457C>T c.(457-459)Cgt>Tgt p.R153C LIHC 17 57089748 57089748 + Missense_Mutation SNP G G T TCGA-DD-AAEA-01A-11D-A40R-10 TCGA-DD-AAEA-10A-01D-A40U-10 g.chr17:57089748G>T c.2636C>A c.(2635-2637)tCt>tAt p.S879Y LIHC 17 57138433 57138433 + Missense_Mutation SNP C C A TCGA-DD-A3A8-01A-11D-A22F-10 TCGA-DD-A3A8-11A-11D-A22F-10 g.chr17:57138433C>A c.979G>T c.(979-981)Gtg>Ttg p.V327L LIHC 17 57181690 57181690 + Silent SNP A A T TCGA-2Y-A9GZ-01A-11D-A38X-10 TCGA-2Y-A9GZ-10A-01D-A38X-10 g.chr17:57181690A>T c.87T>A c.(85-87)ccT>ccA p.P29P LUAD 17 57089793 57089793 + Missense_Mutation SNP C C G TCGA-55-A490-01A-11D-A24D-08 TCGA-55-A490-10A-01D-A24F-08 g.chr17:57089793C>G c.2591G>C c.(2590-2592)gGa>gCa p.G864A LUAD 17 57105837 57105837 + Missense_Mutation SNP C C A TCGA-69-7765-01A-11D-2167-08 TCGA-69-7765-10A-01D-2167-08 g.chr17:57105837C>A c.2196G>T c.(2194-2196)ttG>ttT p.L732F LUAD 17 57109262 57109262 + Missense_Mutation SNP G G A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 g.chr17:57109262G>A c.1943C>T c.(1942-1944)cCc>cTc p.P648L LUAD 17 57126552 57126552 + Missense_Mutation SNP T T C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 g.chr17:57126552T>C c.1517A>G c.(1516-1518)aAt>aGt p.N506S LUAD 17 57126725 57126725 + Missense_Mutation SNP C C G TCGA-97-7547-01A-11D-2036-08 TCGA-97-7547-10A-01D-2036-08 g.chr17:57126725C>G c.1344G>C c.(1342-1344)caG>caC p.Q448H LUAD 17 57128626 57128626 + Missense_Mutation SNP C C A TCGA-17-Z031-01A-01W-0746-08 TCGA-17-Z031-11A-01W-0746-08 g.chr17:57128626C>A c.1263G>T c.(1261-1263)caG>caT p.Q421H LUAD 17 57128685 57128685 + Nonsense_Mutation SNP G G A TCGA-44-3918-01A-01D-1105-08 TCGA-44-3918-11A-01D-1105-08 g.chr17:57128685G>A c.1204C>T c.(1204-1206)Cag>Tag p.Q402* LUAD 17 57138430 57138431 + Frame_Shift_Del DEL AC AC - TCGA-86-A4JF-01A-11D-A24P-08 TCGA-86-A4JF-10A-01D-A24P-08 g.chr17:57138430_57138431delAC c.981_982delGT c.(979-984)gtgtttfs p.F328fs LUAD 17 57157191 57157191 + Silent SNP C C A TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 g.chr17:57157191C>A c.540G>T c.(538-540)cgG>cgT p.R180R LUAD 17 57165660 57165660 + Silent SNP T T C TCGA-99-8028-01A-11D-2238-08 TCGA-99-8028-10A-01D-2238-08 g.chr17:57165660T>C c.273A>G c.(271-273)gaA>gaG p.E91E LUSC 17 57093108 57093108 + Missense_Mutation SNP C C G TCGA-22-1011-01A-01D-1521-08 TCGA-22-1011-11A-01D-1521-08 g.chr17:57093108C>G c.2439G>C c.(2437-2439)ttG>ttC p.L813F LUSC 17 57094780 57094780 + Missense_Mutation SNP T T C TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 g.chr17:57094780T>C c.2263A>G c.(2263-2265)Aat>Gat p.N755D LUSC 17 57109409 57109409 + Missense_Mutation SNP C C G TCGA-18-3406-01A-01D-0983-08 TCGA-18-3406-11A-01D-0983-08 g.chr17:57109409C>G c.1796G>C c.(1795-1797)aGa>aCa p.R599T LUSC 17 57126641 57126641 + Silent SNP T T C TCGA-56-5898-01A-11D-1632-08 TCGA-56-5898-10A-01D-1632-08 g.chr17:57126641T>C c.1428A>G c.(1426-1428)gcA>gcG p.A476A LUSC 17 57134397 57134397 + Missense_Mutation SNP C C G TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 g.chr17:57134397C>G c.1038G>C c.(1036-1038)gaG>gaC p.E346D LUSC 17 57158532 57158532 + Missense_Mutation SNP C C A TCGA-66-2742-01A-01D-0983-08 TCGA-66-2742-11A-01D-0983-08 g.chr17:57158532C>A c.418G>T c.(418-420)Gtc>Ttc p.V140F LUSC 17 57181689 57181689 + Missense_Mutation SNP G G T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 g.chr17:57181689G>T c.88C>A c.(88-90)Cat>Aat p.H30N OV 17 57128679 57128679 + Missense_Mutation SNP G G C TCGA-24-1425-01A-02W-0553-09 TCGA-24-1425-10A-01W-0553-09 g.chr17:57128679G>C c.1210C>G c.(1210-1212)Cgt>Ggt p.R404G PAAD 17 57089767 57089767 + Missense_Mutation SNP T T G TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr17:57089767T>G c.2617A>C c.(2617-2619)Act>Cct p.T873P PAAD 17 57093004 57093004 + Missense_Mutation SNP G G A TCGA-FB-A78T-01A-12D-A32N-08 TCGA-FB-A78T-10A-01D-A32N-08 g.chr17:57093004G>A c.2543C>T c.(2542-2544)gCg>gTg p.A848V PAAD 17 57093004 57093004 + Missense_Mutation SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 g.chr17:57093004G>A c.2543C>T c.(2542-2544)gCg>gTg p.A848V PAAD 17 57165749 57165749 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr17:57165749C>T c.184G>A c.(184-186)Gaa>Aaa p.E62K PRAD 17 57126630 57126630 + Missense_Mutation SNP A A G TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr17:57126630A>G c.1439T>C c.(1438-1440)aTg>aCg p.M480T PRAD 17 57128666 57128666 + Frame_Shift_Del DEL A A - TCGA-EJ-5499-01A-01D-1576-08 TCGA-EJ-5499-10A-01D-1577-08 g.chr17:57128666delA c.1223delT c.(1222-1224)ttcfs p.F409fs PRAD 17 57140009 57140009 + Splice_Site SNP G G C TCGA-KK-A8IH-01A-11D-A364-08 TCGA-KK-A8IH-11A-11D-A362-08 g.chr17:57140009G>C c.861C>G c.(859-861)agC>agG p.S287R READ 17 57105781 57105781 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr17:57105781C>T c.2252G>A c.(2251-2253)cGa>cAa p.R751Q READ 17 57109344 57109344 + Missense_Mutation SNP G G A TCGA-AG-3594-01A-02W-0831-10 TCGA-AG-3594-10A-01W-0831-10 g.chr17:57109344G>A c.1861C>T c.(1861-1863)Cat>Tat p.H621Y READ 17 57125156 57125156 + Missense_Mutation SNP C C T TCGA-DC-6682-01A-11D-1826-10 TCGA-DC-6682-10A-01D-1826-10 g.chr17:57125156C>T c.1555G>A c.(1555-1557)Gat>Aat p.D519N READ 17 57126578 57126578 + Silent SNP A A G TCGA-EI-6506-01A-11D-1733-10 TCGA-EI-6506-10A-01D-1733-10 g.chr17:57126578A>G c.1491T>C c.(1489-1491)gaT>gaC p.D497D SKCM 17 57089803 57089803 + Missense_Mutation SNP T T C TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chr17:57089803T>C c.2581A>G c.(2581-2583)Aat>Gat p.N861D SKCM 17 57093067 57093067 + Missense_Mutation SNP T T C TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 g.chr17:57093067T>C c.2480A>G c.(2479-2481)gAc>gGc p.D827G SKCM 17 57094671 57094672 + Frame_Shift_Ins INS - - GACA TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 g.chr17:57094671_57094672insGACA c.2371_2372insTGTC c.(2371-2373)cagfs p.Q791fs SKCM 17 57094720 57094720 + Nonsense_Mutation SNP G G A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr17:57094720G>A c.2323C>T c.(2323-2325)Cga>Tga p.R775* SKCM 17 57125123 57125123 + Nonsense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 g.chr17:57125123G>A c.1588C>T c.(1588-1590)Cag>Tag p.Q530* SKCM 17 57128577 57128577 + Missense_Mutation SNP C C T TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr17:57128577C>T c.1312G>A c.(1312-1314)Gag>Aag p.E438K SKCM 17 57134297 57134297 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chr17:57134297G>A c.1138C>T c.(1138-1140)Cgt>Tgt p.R380C SKCM 17 57134298 57134298 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chr17:57134298G>A c.1137C>T c.(1135-1137)ttC>ttT p.F379F SKCM 17 57134354 57134354 + Nonsense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr17:57134354G>A c.1081C>T c.(1081-1083)Cga>Tga p.R361* SKCM 17 57148260 57148260 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr17:57148260G>A c.733C>T c.(733-735)Ctt>Ttt p.L245F SKCM 17 57158499 57158499 + Missense_Mutation SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr17:57158499G>A c.451C>T c.(451-453)Cgt>Tgt p.R151C SKCM 17 57168659 57168659 + Splice_Site SNP A A T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr17:57168659A>T c.e3+1 SKCM 17 57168660 57168660 + Splice_Site SNP C C T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr17:57168660C>T c.e3+1 SKCM 17 57181659 57181659 + Missense_Mutation SNP T T A TCGA-EE-A2M5-06A-12D-A197-08 TCGA-EE-A2M5-10A-01D-A199-08 g.chr17:57181659T>A c.118A>T c.(118-120)Att>Ttt p.I40F

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 17 57058003 57058003 single base substitution C A downstream_gene_variant BLCA-US 17 57089713 57089713 single base substitution C A 3_prime_UTR_variant BLCA-US 17 57089713 57089713 single base substitution C A stop_gained G19* 55G>T BLCA-US 17 57089713 57089713 single base substitution C A stop_gained G35* 103G>T BLCA-US 17 57089713 57089713 single base substitution C A stop_gained G769* 2305G>T BLCA-US 17 57089713 57089713 single base substitution C A stop_gained G857* 2569G>T BLCA-US 17 57089713 57089713 single base substitution C A stop_gained G891* 2671G>T BLCA-US 17 57148206 57148206 single base substitution G A 3_prime_UTR_variant BLCA-US 17 57148206 57148206 single base substitution G A downstream_gene_variant BLCA-US 17 57148206 57148206 single base substitution G A exon_variant BLCA-US 17 57148206 57148206 single base substitution G A missense_variant P137S 409C>T BLCA-US 17 57148206 57148206 single base substitution G A missense_variant P141S 421C>T BLCA-US 17 57148206 57148206 single base substitution G A missense_variant P229S 685C>T BLCA-US 17 57148206 57148206 single base substitution G A missense_variant P263S 787C>T BLCA-US 17 57181659 57181659 single base substitution T C 5_prime_UTR_variant BLCA-US 17 57181659 57181659 single base substitution T C exon_variant BLCA-US 17 57181659 57181659 single base substitution T C intron_variant BLCA-US 17 57181659 57181659 single base substitution T C missense_variant I40V 118A>G BRCA-EU 17 57055092 57055092 single base substitution A G downstream_gene_variant BRCA-EU 17 57055177 57055177 single base substitution C A downstream_gene_variant BRCA-EU 17 57055795 57055795 single base substitution G A downstream_gene_variant BRCA-EU 17 57056212 57056212 single base substitution C G downstream_gene_variant BRCA-EU 17 57056447 57056447 single base substitution G C downstream_gene_variant BRCA-EU 17 57058415 57058415 single base substitution T C downstream_gene_variant BRCA-EU 17 57058574 57058574 single base substitution A G downstream_gene_variant BRCA-EU 17 57058628 57058628 single base substitution A G downstream_gene_variant BRCA-EU 17 57059508 57059508 single base substitution T G downstream_gene_variant BRCA-EU 17 57060598 57060598 single base substitution C T intron_variant BRCA-EU 17 57061785 57061785 single base substitution C A intron_variant BRCA-EU 17 57062223 57062226 deletion of <=200bp AAAT - intron_variant BRCA-EU 17 57062252 57062252 single base substitution G A intron_variant BRCA-EU 17 57062253 57062253 single base substitution A T intron_variant BRCA-EU 17 57064418 57064418 single base substitution G A intron_variant BRCA-EU 17 57067683 57067683 single base substitution C T intron_variant BRCA-EU 17 57067685 57067685 single base substitution C G intron_variant BRCA-EU 17 57068378 57068378 deletion of <=200bp A - intron_variant BRCA-EU 17 57068569 57068569 single base substitution C G intron_variant BRCA-EU 17 57068849 57068862 deletion of <=200bp ATAAAAAAAAAGTA - intron_variant BRCA-EU 17 57068851 57068851 insertion of <=200bp - A intron_variant BRCA-EU 17 57068862 57068862 single base substitution A C intron_variant BRCA-EU 17 57069122 57069122 single base substitution T G intron_variant BRCA-EU 17 57069276 57069276 single base substitution C G intron_variant BRCA-EU 17 57070138 57070138 single base substitution C T intron_variant BRCA-EU 17 57070194 57070194 single base substitution T C intron_variant BRCA-EU 17 57071226 57071226 single base substitution C G downstream_gene_variant BRCA-EU 17 57071226 57071226 single base substitution C G intron_variant BRCA-EU 17 57071523 57071523 single base substitution G A downstream_gene_variant BRCA-EU 17 57071523 57071523 single base substitution G A intron_variant BRCA-EU 17 57071716 57071716 deletion of <=200bp A - downstream_gene_variant BRCA-EU 17 57071716 57071716 deletion of <=200bp A - intron_variant BRCA-EU 17 57073031 57073031 single base substitution T C downstream_gene_variant BRCA-EU 17 57073031 57073031 single base substitution T C intron_variant BRCA-EU 17 57073508 57073508 single base substitution C T downstream_gene_variant BRCA-EU 17 57073508 57073508 single base substitution C T intron_variant BRCA-EU 17 57074675 57074675 deletion of <=200bp A - downstream_gene_variant BRCA-EU 17 57074675 57074675 deletion of <=200bp A - intron_variant BRCA-EU 17 57075555 57075555 single base substitution G C downstream_gene_variant BRCA-EU 17 57075555 57075555 single base substitution G C intron_variant BRCA-EU 17 57076325 57076325 single base substitution G C 3_prime_UTR_variant BRCA-EU 17 57076325 57076325 single base substitution G C downstream_gene_variant BRCA-EU 17 57076325 57076325 single base substitution G C intron_variant BRCA-EU 17 57076395 57076395 single base substitution G T 3_prime_UTR_variant BRCA-EU 17 57076395 57076395 single base substitution G T intron_variant BRCA-EU 17 57078170 57078170 single base substitution C G intron_variant BRCA-EU 17 57078451 57078451 single base substitution G C intron_variant BRCA-EU 17 57079246 57079246 single base substitution T C intron_variant BRCA-EU 17 57079389 57079389 insertion of <=200bp - T intron_variant BRCA-EU 17 57079690 57079690 single base substitution A C intron_variant BRCA-EU 17 57080007 57080007 single base substitution G C intron_variant BRCA-EU 17 57081669 57081669 single base substitution T C intron_variant BRCA-EU 17 57083242 57083242 single base substitution C T intron_variant BRCA-EU 17 57083933 57083933 single base substitution T C intron_variant BRCA-EU 17 57085086 57085086 single base substitution C T intron_variant BRCA-EU 17 57085103 57085103 single base substitution G A intron_variant BRCA-EU 17 57085854 57085854 single base substitution G C intron_variant BRCA-EU 17 57088250 57088250 single base substitution G A intron_variant BRCA-EU 17 57090349 57090349 single base substitution A T intron_variant BRCA-EU 17 57090349 57090349 single base substitution A T upstream_gene_variant BRCA-EU 17 57091730 57091730 single base substitution G C intron_variant BRCA-EU 17 57091730 57091730 single base substitution G C upstream_gene_variant BRCA-EU 17 57092135 57092135 single base substitution G C intron_variant BRCA-EU 17 57092135 57092135 single base substitution G C upstream_gene_variant BRCA-EU 17 57093378 57093378 deletion of <=200bp A - intron_variant BRCA-EU 17 57093378 57093378 deletion of <=200bp A - upstream_gene_variant BRCA-EU 17 57093639 57093639 single base substitution C T intron_variant BRCA-EU 17 57093639 57093639 single base substitution C T upstream_gene_variant BRCA-EU 17 57097287 57097287 single base substitution A G intron_variant BRCA-EU 17 57097287 57097287 single base substitution A G upstream_gene_variant BRCA-EU 17 57097413 57097413 single base substitution G C intron_variant BRCA-EU 17 57097413 57097413 single base substitution G C upstream_gene_variant BRCA-EU 17 57097920 57097920 single base substitution T C intron_variant BRCA-EU 17 57097920 57097920 single base substitution T C upstream_gene_variant BRCA-EU 17 57098319 57098319 single base substitution A C intron_variant BRCA-EU 17 57099818 57099818 single base substitution G C intron_variant BRCA-EU 17 57100796 57100796 single base substitution C T intron_variant BRCA-EU 17 57101780 57101780 single base substitution G C intron_variant BRCA-EU 17 57101876 57101876 single base substitution C G intron_variant BRCA-EU 17 57102296 57102296 single base substitution C G intron_variant BRCA-EU 17 57102888 57102888 single base substitution G C intron_variant BRCA-EU 17 57105687 57105687 single base substitution G A intron_variant BRCA-EU 17 57105746 57105746 single base substitution G C intron_variant BRCA-EU 17 57106626 57106626 deletion of <=200bp A - intron_variant BRCA-EU 17 57107498 57107498 single base substitution C T intron_variant BRCA-EU 17 57109617 57109617 single base substitution T C intron_variant BRCA-EU 17 57110620 57110620 single base substitution G A intron_variant BRCA-EU 17 57110790 57110790 single base substitution G A intron_variant BRCA-EU 17 57111179 57111179 single base substitution A T intron_variant BRCA-EU 17 57115106 57115106 single base substitution A G intron_variant BRCA-EU 17 57115397 57115397 single base substitution C A intron_variant BRCA-EU 17 57116498 57116498 single base substitution G A intron_variant BRCA-EU 17 57117576 57117592 deletion of <=200bp CATGATTAGATATTAAT - intron_variant BRCA-EU 17 57117649 57117649 single base substitution G A intron_variant BRCA-EU 17 57119205 57119205 single base substitution G C 3_prime_UTR_variant BRCA-EU 17 57119205 57119205 single base substitution G C synonymous_variant L452L 1356C>G BRCA-EU 17 57119205 57119205 single base substitution G C synonymous_variant L540L 1620C>G BRCA-EU 17 57119205 57119205 single base substitution G C synonymous_variant L574L 1722C>G BRCA-EU 17 57120208 57120208 single base substitution G A intron_variant BRCA-EU 17 57120400 57120400 deletion of <=200bp A - intron_variant BRCA-EU 17 57120876 57120882 deletion of <=200bp AACTTCC - intron_variant BRCA-EU 17 57121071 57121071 single base substitution C T intron_variant BRCA-EU 17 57122580 57122580 single base substitution C G intron_variant BRCA-EU 17 57124410 57124410 single base substitution G C intron_variant BRCA-EU 17 57124814 57124814 single base substitution G A intron_variant BRCA-EU 17 57126492 57126492 deletion of <=200bp T - intron_variant BRCA-EU 17 57126727 57126727 single base substitution G C 3_prime_UTR_variant BRCA-EU 17 57126727 57126727 single base substitution G C missense_variant Q326E 976C>G BRCA-EU 17 57126727 57126727 single base substitution G C missense_variant Q414E 1240C>G BRCA-EU 17 57126727 57126727 single base substitution G C missense_variant Q448E 1342C>G BRCA-EU 17 57127205 57127205 deletion of <=200bp A - intron_variant BRCA-EU 17 57128236 57128236 single base substitution G C intron_variant BRCA-EU 17 57128514 57128514 single base substitution C G intron_variant BRCA-EU 17 57128879 57128879 single base substitution C A intron_variant BRCA-EU 17 57129637 57129637 single base substitution G C intron_variant BRCA-EU 17 57130926 57130926 deletion of <=200bp A - intron_variant BRCA-EU 17 57132062 57132062 single base substitution G C intron_variant BRCA-EU 17 57132107 57132107 single base substitution C A intron_variant BRCA-EU 17 57132133 57132133 single base substitution C T intron_variant BRCA-EU 17 57132835 57132835 single base substitution C G intron_variant BRCA-EU 17 57136013 57136013 single base substitution G A downstream_gene_variant BRCA-EU 17 57136013 57136013 single base substitution G A intron_variant BRCA-EU 17 57136048 57136048 single base substitution G A downstream_gene_variant BRCA-EU 17 57136048 57136048 single base substitution G A intron_variant BRCA-EU 17 57136772 57136772 single base substitution T A downstream_gene_variant BRCA-EU 17 57136772 57136772 single base substitution T A intron_variant BRCA-EU 17 57138433 57138433 single base substitution C T 3_prime_UTR_variant BRCA-EU 17 57138433 57138433 single base substitution C T downstream_gene_variant BRCA-EU 17 57138433 57138433 single base substitution C T missense_variant V205M 613G>A BRCA-EU 17 57138433 57138433 single base substitution C T missense_variant V293M 877G>A BRCA-EU 17 57138433 57138433 single base substitution C T missense_variant V327M 979G>A BRCA-EU 17 57138803 57138803 deletion of <=200bp A - downstream_gene_variant BRCA-EU 17 57138803 57138803 deletion of <=200bp A - intron_variant BRCA-EU 17 57139022 57139022 single base substitution C G downstream_gene_variant BRCA-EU 17 57139022 57139022 single base substitution C G intron_variant BRCA-EU 17 57139223 57139225 deletion of <=200bp CTT - downstream_gene_variant BRCA-EU 17 57139223 57139225 deletion of <=200bp CTT - intron_variant BRCA-EU 17 57141004 57141004 single base substitution C T downstream_gene_variant BRCA-EU 17 57141004 57141004 single base substitution C T intron_variant BRCA-EU 17 57142054 57142054 single base substitution G A intron_variant BRCA-EU 17 57142225 57142225 single base substitution T A intron_variant BRCA-EU 17 57143075 57143075 single base substitution C G intron_variant BRCA-EU 17 57143629 57143629 single base substitution G A intron_variant BRCA-EU 17 57144609 57144609 single base substitution G A intron_variant BRCA-EU 17 57144721 57144721 single base substitution C A intron_variant BRCA-EU 17 57144796 57144796 single base substitution G A intron_variant BRCA-EU 17 57145059 57145059 single base substitution G A intron_variant BRCA-EU 17 57145590 57145590 single base substitution G A intron_variant BRCA-EU 17 57145841 57145841 single base substitution C T intron_variant BRCA-EU 17 57146396 57146396 single base substitution T G intron_variant BRCA-EU 17 57147667 57147667 single base substitution G A intron_variant BRCA-EU 17 57150895 57150895 single base substitution C A downstream_gene_variant BRCA-EU 17 57150895 57150895 single base substitution C A intron_variant BRCA-EU 17 57151153 57151153 single base substitution T A downstream_gene_variant BRCA-EU 17 57151153 57151153 single base substitution T A intron_variant BRCA-EU 17 57151226 57151226 single base substitution C T downstream_gene_variant BRCA-EU 17 57151226 57151226 single base substitution C T intron_variant BRCA-EU 17 57152178 57152178 single base substitution A G downstream_gene_variant BRCA-EU 17 57152178 57152178 single base substitution A G intron_variant BRCA-EU 17 57152440 57152440 single base substitution C G downstream_gene_variant BRCA-EU 17 57152440 57152440 single base substitution C G intron_variant BRCA-EU 17 57153794 57153794 single base substitution C G downstream_gene_variant BRCA-EU 17 57153794 57153794 single base substitution C G intron_variant BRCA-EU 17 57154501 57154501 single base substitution G A downstream_gene_variant BRCA-EU 17 57154501 57154501 single base substitution G A intron_variant BRCA-EU 17 57154960 57154960 single base substitution C T downstream_gene_variant BRCA-EU 17 57154960 57154960 single base substitution C T intron_variant BRCA-EU 17 57155042 57155042 single base substitution G A downstream_gene_variant BRCA-EU 17 57155042 57155042 single base substitution G A intron_variant BRCA-EU 17 57155487 57155487 insertion of <=200bp - AAT downstream_gene_variant BRCA-EU 17 57155487 57155487 insertion of <=200bp - AAT intron_variant BRCA-EU 17 57156935 57156935 single base substitution A T downstream_gene_variant BRCA-EU 17 57156935 57156935 single base substitution A T intron_variant BRCA-EU 17 57158178 57158178 single base substitution A G intron_variant BRCA-EU 17 57158178 57158178 single base substitution A G upstream_gene_variant BRCA-EU 17 57159257 57159257 single base substitution C G intron_variant BRCA-EU 17 57159257 57159257 single base substitution C G upstream_gene_variant BRCA-EU 17 57163209 57163209 single base substitution A C downstream_gene_variant BRCA-EU 17 57163209 57163209 single base substitution A C intron_variant BRCA-EU 17 57163209 57163209 single base substitution A C upstream_gene_variant BRCA-EU 17 57163944 57163944 single base substitution G C downstream_gene_variant BRCA-EU 17 57163944 57163944 single base substitution G C intron_variant BRCA-EU 17 57164907 57164907 single base substitution G C downstream_gene_variant BRCA-EU 17 57164907 57164907 single base substitution G C intron_variant BRCA-EU 17 57165980 57165980 single base substitution C T intron_variant BRCA-EU 17 57166391 57166391 single base substitution G A intron_variant BRCA-EU 17 57167857 57167857 single base substitution C T intron_variant BRCA-EU 17 57168561 57168561 single base substitution G C intron_variant BRCA-EU 17 57168702 57168702 single base substitution C T splice_acceptor_variant BRCA-EU 17 57168969 57168970 deletion of <=200bp AT - intron_variant BRCA-EU 17 57169319 57169319 single base substitution C G intron_variant BRCA-EU 17 57170233 57170233 single base substitution G C intron_variant BRCA-EU 17 57172143 57172143 deletion of <=200bp A - intron_variant BRCA-EU 17 57172273 57172273 single base substitution G A intron_variant BRCA-EU 17 57172314 57172314 single base substitution C A intron_variant BRCA-EU 17 57172571 57172571 single base substitution G C intron_variant BRCA-EU 17 57172576 57172576 single base substitution C A intron_variant BRCA-EU 17 57174115 57174115 single base substitution C T intron_variant BRCA-EU 17 57176730 57176730 single base substitution T G intron_variant BRCA-EU 17 57176758 57176758 deletion of <=200bp T - intron_variant BRCA-EU 17 57176758 57176758 insertion of <=200bp - T intron_variant BRCA-EU 17 57176958 57176958 single base substitution G C intron_variant BRCA-EU 17 57177818 57177818 single base substitution G A intron_variant BRCA-EU 17 57177894 57177894 single base substitution C G intron_variant BRCA-EU 17 57181126 57181126 single base substitution C T intron_variant BRCA-EU 17 57182673 57182673 single base substitution A T intron_variant BRCA-EU 17 57184655 57184655 single base substitution C T upstream_gene_variant BRCA-EU 17 57185408 57185408 single base substitution G A upstream_gene_variant BRCA-EU 17 57186151 57186151 single base substitution G A upstream_gene_variant BRCA-EU 17 57186744 57186744 single base substitution A T upstream_gene_variant BRCA-EU 17 57187726 57187726 single base substitution A G upstream_gene_variant BRCA-EU 17 57188137 57188137 single base substitution G T upstream_gene_variant BRCA-FR 17 57063527 57063527 single base substitution C A intron_variant BRCA-FR 17 57070194 57070194 single base substitution T C intron_variant BRCA-FR 17 57078188 57078188 single base substitution C T intron_variant BRCA-FR 17 57079246 57079246 single base substitution T C intron_variant BRCA-FR 17 57083242 57083242 single base substitution C T intron_variant BRCA-FR 17 57085059 57085059 single base substitution T C intron_variant BRCA-FR 17 57085086 57085086 single base substitution C T intron_variant BRCA-FR 17 57085103 57085103 single base substitution G A intron_variant BRCA-FR 17 57091730 57091730 single base substitution G C intron_variant BRCA-FR 17 57091730 57091730 single base substitution G C upstream_gene_variant BRCA-FR 17 57092093 57092093 single base substitution T A intron_variant BRCA-FR 17 57092093 57092093 single base substitution T A upstream_gene_variant BRCA-FR 17 57097287 57097287 single base substitution A G intron_variant BRCA-FR 17 57097287 57097287 single base substitution A G upstream_gene_variant BRCA-FR 17 57097413 57097413 single base substitution G C intron_variant BRCA-FR 17 57097413 57097413 single base substitution G C upstream_gene_variant BRCA-FR 17 57098319 57098319 single base substitution A C intron_variant BRCA-FR 17 57099818 57099818 single base substitution G C intron_variant BRCA-FR 17 57101780 57101780 single base substitution G C intron_variant BRCA-FR 17 57111700 57111700 single base substitution C G intron_variant BRCA-FR 17 57121071 57121071 single base substitution C T intron_variant BRCA-FR 17 57122182 57122182 single base substitution C T intron_variant BRCA-FR 17 57129637 57129637 single base substitution G C intron_variant BRCA-FR 17 57132107 57132107 single base substitution C A intron_variant BRCA-FR 17 57136364 57136364 single base substitution G T downstream_gene_variant BRCA-FR 17 57136364 57136364 single base substitution G T intron_variant BRCA-FR 17 57145590 57145590 single base substitution G A intron_variant BRCA-FR 17 57145841 57145841 single base substitution C T intron_variant BRCA-FR 17 57145911 57145911 single base substitution C A intron_variant BRCA-FR 17 57164724 57164724 single base substitution G A downstream_gene_variant BRCA-FR 17 57164724 57164724 single base substitution G A intron_variant BRCA-FR 17 57167857 57167857 single base substitution C T intron_variant BRCA-FR 17 57170233 57170233 single base substitution G C intron_variant BRCA-FR 17 57172576 57172576 single base substitution C A intron_variant BRCA-FR 17 57176958 57176958 single base substitution G C intron_variant BRCA-FR 17 57188137 57188137 single base substitution G T upstream_gene_variant BRCA-FR 17 57188590 57188590 single base substitution C T upstream_gene_variant BRCA-KR 17 57057626 57057626 single base substitution C G downstream_gene_variant BRCA-KR 17 57057649 57057649 single base substitution C T downstream_gene_variant BRCA-KR 17 57057840 57057840 single base substitution C T downstream_gene_variant BRCA-KR 17 57058118 57058118 single base substitution C G downstream_gene_variant BRCA-KR 17 57058167 57058167 single base substitution C T downstream_gene_variant BRCA-KR 17 57165701 57165701 single base substitution T C 3_prime_UTR_variant BRCA-KR 17 57165701 57165701 single base substitution T C 5_prime_UTR_premature_start_codon_gain_variant BRCA-KR 17 57165701 57165701 single base substitution T C exon_variant BRCA-KR 17 57165701 57165701 single base substitution T C intron_variant BRCA-KR 17 57165701 57165701 single base substitution T C missense_variant T44A 130A>G BRCA-KR 17 57165701 57165701 single base substitution T C missense_variant T78A 232A>G BRCA-UK 17 57075312 57075312 single base substitution G C downstream_gene_variant BRCA-UK 17 57075312 57075312 single base substitution G C intron_variant BRCA-UK 17 57086242 57086242 single base substitution C G intron_variant BRCA-UK 17 57117576 57117592 deletion of <=200bp CATGATTAGATATTAAT - intron_variant BRCA-US 17 57057536 57057536 single base substitution C T downstream_gene_variant BRCA-US 17 57057757 57057757 single base substitution C T downstream_gene_variant BRCA-US 17 57057971 57057971 single base substitution C G downstream_gene_variant BRCA-US 17 57094720 57094720 single base substitution G A 3_prime_UTR_variant BRCA-US 17 57094720 57094720 single base substitution G A stop_gained R653* 1957C>T BRCA-US 17 57094720 57094720 single base substitution G A stop_gained R741* 2221C>T BRCA-US 17 57094720 57094720 single base substitution G A stop_gained R775* 2323C>T BRCA-US 17 57094720 57094720 single base substitution G A upstream_gene_variant BRCA-US 17 57126636 57126636 single base substitution G C 3_prime_UTR_variant BRCA-US 17 57126636 57126636 single base substitution G C missense_variant S356C 1067C>G BRCA-US 17 57126636 57126636 single base substitution G C missense_variant S444C 1331C>G BRCA-US 17 57126636 57126636 single base substitution G C missense_variant S478C 1433C>G BRCA-US 17 57139966 57139966 single base substitution G C 3_prime_UTR_variant BRCA-US 17 57139966 57139966 single base substitution G C downstream_gene_variant BRCA-US 17 57139966 57139966 single base substitution G C missense_variant Q176E 526C>G BRCA-US 17 57139966 57139966 single base substitution G C missense_variant Q180E 538C>G BRCA-US 17 57139966 57139966 single base substitution G C missense_variant Q268E 802C>G BRCA-US 17 57139966 57139966 single base substitution G C missense_variant Q302E 904C>G BRCA-US 17 57165759 57165759 single base substitution G C 3_prime_UTR_variant BRCA-US 17 57165759 57165759 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant BRCA-US 17 57165759 57165759 single base substitution G C exon_variant BRCA-US 17 57165759 57165759 single base substitution G C intron_variant BRCA-US 17 57165759 57165759 single base substitution G C synonymous_variant L24L 72C>G BRCA-US 17 57165759 57165759 single base substitution G C synonymous_variant L58L 174C>G BTCA-JP 17 57057739 57057739 single base substitution G A downstream_gene_variant BTCA-JP 17 57060352 57060352 deletion of <=200bp A - intron_variant BTCA-JP 17 57105748 57105748 single base substitution G A intron_variant BTCA-JP 17 57126623 57126623 single base substitution G A 3_prime_UTR_variant BTCA-JP 17 57126623 57126623 single base substitution G A synonymous_variant L360L 1080C>T BTCA-JP 17 57126623 57126623 single base substitution G A synonymous_variant L448L 1344C>T BTCA-JP 17 57126623 57126623 single base substitution G A synonymous_variant L482L 1446C>T BTCA-JP 17 57148100 57148100 deletion of <=200bp A - downstream_gene_variant BTCA-JP 17 57148100 57148100 deletion of <=200bp A - intron_variant BTCA-JP 17 57181729 57181729 single base substitution G T 5_prime_UTR_variant BTCA-JP 17 57181729 57181729 single base substitution G T exon_variant BTCA-JP 17 57181729 57181729 single base substitution G T intron_variant BTCA-JP 17 57181729 57181729 single base substitution G T missense_variant F16L 48C>A BTCA-JP 17 57181730 57181730 single base substitution A T 5_prime_UTR_variant BTCA-JP 17 57181730 57181730 single base substitution A T exon_variant BTCA-JP 17 57181730 57181730 single base substitution A T intron_variant BTCA-JP 17 57181730 57181730 single base substitution A T missense_variant F16Y 47T>A CESC-US 17 57057649 57057649 single base substitution C G downstream_gene_variant CESC-US 17 57106026 57106026 single base substitution G T 3_prime_UTR_variant CESC-US 17 57106026 57106026 single base substitution G T synonymous_variant P547P 1641C>A CESC-US 17 57106026 57106026 single base substitution G T synonymous_variant P635P 1905C>A CESC-US 17 57106026 57106026 single base substitution G T synonymous_variant P669P 2007C>A CESC-US 17 57134235 57134235 single base substitution C T downstream_gene_variant CESC-US 17 57134235 57134235 single base substitution C T splice_donor_variant CESC-US 17 57139987 57139987 single base substitution G T 3_prime_UTR_variant CESC-US 17 57139987 57139987 single base substitution G T downstream_gene_variant CESC-US 17 57139987 57139987 single base substitution G T missense_variant P169T 505C>A CESC-US 17 57139987 57139987 single base substitution G T missense_variant P173T 517C>A CESC-US 17 57139987 57139987 single base substitution G T missense_variant P261T 781C>A CESC-US 17 57139987 57139987 single base substitution G T missense_variant P295T 883C>A CLLE-ES 17 57062799 57062799 single base substitution G A intron_variant CLLE-ES 17 57073866 57073866 single base substitution A T downstream_gene_variant CLLE-ES 17 57073866 57073866 single base substitution A T intron_variant CLLE-ES 17 57082426 57082426 single base substitution T A intron_variant CLLE-ES 17 57129372 57129372 single base substitution C T intron_variant CLLE-ES 17 57137659 57137659 single base substitution G A downstream_gene_variant CLLE-ES 17 57137659 57137659 single base substitution G A intron_variant CLLE-ES 17 57176037 57176037 single base substitution A T intron_variant COAD-US 17 57057997 57057997 single base substitution G T downstream_gene_variant COAD-US 17 57058152 57058152 single base substitution G T downstream_gene_variant COAD-US 17 57058284 57058284 single base substitution G A downstream_gene_variant COAD-US 17 57076783 57076783 single base substitution G A 3_prime_UTR_variant COAD-US 17 57076783 57076783 single base substitution G A synonymous_variant G103G 309C>T COAD-US 17 57076783 57076783 single base substitution G A synonymous_variant G39G 117C>T COAD-US 17 57076783 57076783 single base substitution G A synonymous_variant G789G 2367C>T COAD-US 17 57076783 57076783 single base substitution G A synonymous_variant G916G 2748C>T COAD-US 17 57076783 57076783 single base substitution G A synonymous_variant G950G 2850C>T COAD-US 17 57078967 57078967 deletion of <=200bp G - frameshift_variant P88 COAD-US 17 57078967 57078967 deletion of <=200bp G - frameshift_variant P901 COAD-US 17 57078967 57078967 deletion of <=200bp G - frameshift_variant P935 COAD-US 17 57078967 57078967 deletion of <=200bp G - intron_variant COAD-US 17 57089695 57089695 single base substitution C T 3_prime_UTR_variant COAD-US 17 57089695 57089695 single base substitution C T missense_variant E25K 73G>A COAD-US 17 57089695 57089695 single base substitution C T missense_variant E41K 121G>A COAD-US 17 57089695 57089695 single base substitution C T missense_variant E775K 2323G>A COAD-US 17 57089695 57089695 single base substitution C T missense_variant E863K 2587G>A COAD-US 17 57089695 57089695 single base substitution C T missense_variant E897K 2689G>A COAD-US 17 57105965 57105965 single base substitution T C 3_prime_UTR_variant COAD-US 17 57105965 57105965 single base substitution T C missense_variant T568A 1702A>G COAD-US 17 57105965 57105965 single base substitution T C missense_variant T656A 1966A>G COAD-US 17 57105965 57105965 single base substitution T C missense_variant T690A 2068A>G COAD-US 17 57109446 57109446 single base substitution T A 3_prime_UTR_variant COAD-US 17 57109446 57109446 single base substitution T A missense_variant S465C 1393A>T COAD-US 17 57109446 57109446 single base substitution T A missense_variant S553C 1657A>T COAD-US 17 57109446 57109446 single base substitution T A missense_variant S587C 1759A>T COAD-US 17 57128625 57128625 single base substitution A G 3_prime_UTR_variant COAD-US 17 57128625 57128625 single base substitution A G synonymous_variant L300L 898T>C COAD-US 17 57128625 57128625 single base substitution A G synonymous_variant L388L 1162T>C COAD-US 17 57128625 57128625 single base substitution A G synonymous_variant L422L 1264T>C COAD-US 17 57128679 57128679 single base substitution G A 3_prime_UTR_variant COAD-US 17 57128679 57128679 single base substitution G A missense_variant R282C 844C>T COAD-US 17 57128679 57128679 single base substitution G A missense_variant R370C 1108C>T COAD-US 17 57128679 57128679 single base substitution G A missense_variant R404C 1210C>T COAD-US 17 57148194 57148194 single base substitution C T 3_prime_UTR_variant COAD-US 17 57148194 57148194 single base substitution C T downstream_gene_variant COAD-US 17 57148194 57148194 single base substitution C T exon_variant COAD-US 17 57148194 57148194 single base substitution C T missense_variant D141N 421G>A COAD-US 17 57148194 57148194 single base substitution C T missense_variant D145N 433G>A COAD-US 17 57148194 57148194 single base substitution C T missense_variant D233N 697G>A COAD-US 17 57148194 57148194 single base substitution C T missense_variant D267N 799G>A COAD-US 17 57157216 57157216 single base substitution C A 3_prime_UTR_variant COAD-US 17 57157216 57157216 single base substitution C A missense_variant R138I 413G>T COAD-US 17 57157216 57157216 single base substitution C A missense_variant R172I 515G>T COAD-US 17 57157216 57157216 single base substitution C A missense_variant R30I 89G>T COAD-US 17 57157216 57157216 single base substitution C A missense_variant R50I 149G>T COAD-US 17 57157216 57157216 single base substitution C A upstream_gene_variant COAD-US 17 57158552 57158552 single base substitution G A 3_prime_UTR_variant COAD-US 17 57158552 57158552 single base substitution G A exon_variant COAD-US 17 57158552 57158552 single base substitution G A intron_variant COAD-US 17 57158552 57158552 single base substitution G A missense_variant A11V 32C>T COAD-US 17 57158552 57158552 single base substitution G A missense_variant A133V 398C>T COAD-US 17 57158552 57158552 single base substitution G A missense_variant A99V 296C>T COAD-US 17 57158552 57158552 single base substitution G A upstream_gene_variant COAD-US 17 57165742 57165742 single base substitution A G 3_prime_UTR_variant COAD-US 17 57165742 57165742 single base substitution A G 5_prime_UTR_variant COAD-US 17 57165742 57165742 single base substitution A G exon_variant COAD-US 17 57165742 57165742 single base substitution A G intron_variant COAD-US 17 57165742 57165742 single base substitution A G missense_variant V30A 89T>C COAD-US 17 57165742 57165742 single base substitution A G missense_variant V64A 191T>C COAD-US 17 57165759 57165759 single base substitution G C 3_prime_UTR_variant COAD-US 17 57165759 57165759 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant COAD-US 17 57165759 57165759 single base substitution G C exon_variant COAD-US 17 57165759 57165759 single base substitution G C intron_variant COAD-US 17 57165759 57165759 single base substitution G C synonymous_variant L24L 72C>G COAD-US 17 57165759 57165759 single base substitution G C synonymous_variant L58L 174C>G COCA-CN 17 57058163 57058163 single base substitution G A downstream_gene_variant COCA-CN 17 57060112 57060112 single base substitution G A 3_prime_UTR_variant COCA-CN 17 57060386 57060386 single base substitution C A intron_variant COCA-CN 17 57078891 57078891 single base substitution A C intron_variant COCA-CN 17 57089591 57089591 single base substitution C G intron_variant COCA-CN 17 57089594 57089594 single base substitution C G intron_variant COCA-CN 17 57089600 57089600 single base substitution C G intron_variant COCA-CN 17 57089603 57089603 single base substitution C G intron_variant COCA-CN 17 57089675 57089675 single base substitution T G intron_variant COCA-CN 17 57094921 57094921 single base substitution G A intron_variant COCA-CN 17 57094921 57094921 single base substitution G A upstream_gene_variant COCA-CN 17 57106077 57106077 single base substitution A T 3_prime_UTR_variant COCA-CN 17 57106077 57106077 single base substitution A T stop_gained Y530* 1590T>A COCA-CN 17 57106077 57106077 single base substitution A T stop_gained Y618* 1854T>A COCA-CN 17 57106077 57106077 single base substitution A T stop_gained Y652* 1956T>A COCA-CN 17 57128508 57128508 single base substitution T G intron_variant COCA-CN 17 57128618 57128618 single base substitution G T 3_prime_UTR_variant COCA-CN 17 57128618 57128618 single base substitution G T missense_variant A302D 905C>A COCA-CN 17 57128618 57128618 single base substitution G T missense_variant A390D 1169C>A COCA-CN 17 57128618 57128618 single base substitution G T missense_variant A424D 1271C>A COCA-CN 17 57128760 57128760 single base substitution T G intron_variant COCA-CN 17 57134255 57134255 single base substitution T G 3_prime_UTR_variant COCA-CN 17 57134255 57134255 single base substitution T G downstream_gene_variant COCA-CN 17 57134255 57134255 single base substitution T G missense_variant N272H 814A>C COCA-CN 17 57134255 57134255 single base substitution T G missense_variant N360H 1078A>C COCA-CN 17 57134255 57134255 single base substitution T G missense_variant N394H 1180A>C COCA-CN 17 57148236 57148236 single base substitution G A 3_prime_UTR_variant COCA-CN 17 57148236 57148236 single base substitution G A downstream_gene_variant COCA-CN 17 57148236 57148236 single base substitution G A exon_variant COCA-CN 17 57148236 57148236 single base substitution G A missense_variant R127W 379C>T COCA-CN 17 57148236 57148236 single base substitution G A missense_variant R131W 391C>T COCA-CN 17 57148236 57148236 single base substitution G A missense_variant R219W 655C>T COCA-CN 17 57148236 57148236 single base substitution G A missense_variant R253W 757C>T COCA-CN 17 57152946 57152946 single base substitution C A downstream_gene_variant COCA-CN 17 57152946 57152946 single base substitution C A intron_variant COCA-CN 17 57152959 57152959 single base substitution C A downstream_gene_variant COCA-CN 17 57152959 57152959 single base substitution C A intron_variant COCA-CN 17 57152973 57152973 single base substitution T A downstream_gene_variant COCA-CN 17 57152973 57152973 single base substitution T A intron_variant COCA-CN 17 57152977 57152977 single base substitution G A downstream_gene_variant COCA-CN 17 57152977 57152977 single base substitution G A intron_variant COCA-CN 17 57157095 57157095 single base substitution C T downstream_gene_variant COCA-CN 17 57157095 57157095 single base substitution C T intron_variant EOPC-DE 17 57088166 57088166 single base substitution G T intron_variant EOPC-DE 17 57095430 57095430 single base substitution A G intron_variant EOPC-DE 17 57095430 57095430 single base substitution A G upstream_gene_variant EOPC-DE 17 57128916 57128916 single base substitution T G intron_variant ESAD-UK 17 57055972 57055972 single base substitution G A downstream_gene_variant ESAD-UK 17 57058649 57058649 single base substitution C T downstream_gene_variant ESAD-UK 17 57058942 57058942 single base substitution G T downstream_gene_variant ESAD-UK 17 57059858 57059858 single base substitution G A downstream_gene_variant ESAD-UK 17 57062071 57062071 single base substitution A G intron_variant ESAD-UK 17 57063556 57063556 single base substitution C T intron_variant ESAD-UK 17 57064018 57064018 single base substitution C A intron_variant ESAD-UK 17 57066049 57066050 deletion of <=200bp AG - intron_variant ESAD-UK 17 57067164 57067164 single base substitution T C intron_variant ESAD-UK 17 57067905 57067905 single base substitution G A intron_variant ESAD-UK 17 57068860 57068860 deletion of <=200bp G - intron_variant ESAD-UK 17 57069630 57069630 insertion of <=200bp - AT intron_variant ESAD-UK 17 57071369 57071369 insertion of <=200bp - T downstream_gene_variant ESAD-UK 17 57071369 57071369 insertion of <=200bp - T intron_variant ESAD-UK 17 57072442 57072442 single base substitution C T downstream_gene_variant ESAD-UK 17 57072442 57072442 single base substitution C T intron_variant ESAD-UK 17 57073312 57073312 single base substitution A C downstream_gene_variant ESAD-UK 17 57073312 57073312 single base substitution A C intron_variant ESAD-UK 17 57073800 57073800 single base substitution C T downstream_gene_variant ESAD-UK 17 57073800 57073800 single base substitution C T intron_variant ESAD-UK 17 57075007 57075007 single base substitution G A downstream_gene_variant ESAD-UK 17 57075007 57075007 single base substitution G A intron_variant ESAD-UK 17 57075093 57075093 single base substitution A G downstream_gene_variant ESAD-UK 17 57075093 57075093 single base substitution A G intron_variant ESAD-UK 17 57076048 57076049 deletion of <=200bp GT - 3_prime_UTR_variant ESAD-UK 17 57076048 57076049 deletion of <=200bp GT - downstream_gene_variant ESAD-UK 17 57076048 57076049 deletion of <=200bp GT - intron_variant ESAD-UK 17 57078039 57078039 deletion of <=200bp T - intron_variant ESAD-UK 17 57078133 57078133 single base substitution A C intron_variant ESAD-UK 17 57078169 57078169 single base substitution C A intron_variant ESAD-UK 17 57079118 57079118 single base substitution T A intron_variant ESAD-UK 17 57080345 57080345 single base substitution C T intron_variant ESAD-UK 17 57081996 57081996 single base substitution A C intron_variant ESAD-UK 17 57082333 57082335 deletion of <=200bp ACA - intron_variant ESAD-UK 17 57084044 57084044 single base substitution G A intron_variant ESAD-UK 17 57084200 57084200 single base substitution A G intron_variant ESAD-UK 17 57084781 57084781 single base substitution A C intron_variant ESAD-UK 17 57086430 57086430 single base substitution C T intron_variant ESAD-UK 17 57086470 57086470 single base substitution C T intron_variant ESAD-UK 17 57086498 57086498 deletion of <=200bp T - intron_variant ESAD-UK 17 57088534 57088534 single base substitution A G intron_variant ESAD-UK 17 57090947 57090947 single base substitution G C intron_variant ESAD-UK 17 57090947 57090947 single base substitution G C upstream_gene_variant ESAD-UK 17 57091348 57091348 single base substitution G A intron_variant ESAD-UK 17 57091348 57091348 single base substitution G A upstream_gene_variant ESAD-UK 17 57092387 57092387 single base substitution G A intron_variant ESAD-UK 17 57092387 57092387 single base substitution G A upstream_gene_variant ESAD-UK 17 57093360 57093360 single base substitution A G intron_variant ESAD-UK 17 57093360 57093360 single base substitution A G upstream_gene_variant ESAD-UK 17 57094998 57094998 single base substitution T C intron_variant ESAD-UK 17 57094998 57094998 single base substitution T C upstream_gene_variant ESAD-UK 17 57095150 57095150 single base substitution T C intron_variant ESAD-UK 17 57095150 57095150 single base substitution T C upstream_gene_variant ESAD-UK 17 57101340 57101340 single base substitution C T intron_variant ESAD-UK 17 57102993 57102993 single base substitution C T intron_variant ESAD-UK 17 57104936 57104936 single base substitution T A intron_variant ESAD-UK 17 57106912 57106912 single base substitution C A intron_variant ESAD-UK 17 57107026 57107026 single base substitution G A intron_variant ESAD-UK 17 57108360 57108360 single base substitution G A intron_variant ESAD-UK 17 57109286 57109286 single base substitution C T 3_prime_UTR_variant ESAD-UK 17 57109286 57109286 single base substitution C T missense_variant R518H 1553G>A ESAD-UK 17 57109286 57109286 single base substitution C T missense_variant R606H 1817G>A ESAD-UK 17 57109286 57109286 single base substitution C T missense_variant R640H 1919G>A ESAD-UK 17 57110801 57110801 single base substitution T C intron_variant ESAD-UK 17 57112972 57112972 single base substitution G A intron_variant ESAD-UK 17 57114634 57114634 single base substitution T C intron_variant ESAD-UK 17 57116260 57116260 single base substitution T C intron_variant ESAD-UK 17 57117738 57117738 single base substitution A G intron_variant ESAD-UK 17 57120400 57120400 single base substitution A C intron_variant ESAD-UK 17 57122297 57122297 single base substitution G A intron_variant ESAD-UK 17 57123466 57123466 single base substitution T C intron_variant ESAD-UK 17 57123929 57123929 single base substitution C G intron_variant ESAD-UK 17 57125563 57125563 single base substitution A G intron_variant ESAD-UK 17 57127111 57127111 single base substitution G A intron_variant ESAD-UK 17 57127864 57127864 single base substitution G A intron_variant ESAD-UK 17 57130230 57130230 single base substitution C T intron_variant ESAD-UK 17 57130346 57130346 single base substitution A C intron_variant ESAD-UK 17 57130776 57130776 single base substitution C A intron_variant ESAD-UK 17 57132431 57132431 single base substitution C T intron_variant ESAD-UK 17 57137846 57137846 single base substitution A C downstream_gene_variant ESAD-UK 17 57137846 57137846 single base substitution A C intron_variant ESAD-UK 17 57139664 57139664 single base substitution A G downstream_gene_variant ESAD-UK 17 57139664 57139664 single base substitution A G intron_variant ESAD-UK 17 57143644 57143644 single base substitution T G intron_variant ESAD-UK 17 57144840 57144840 single base substitution A G intron_variant ESAD-UK 17 57146091 57146091 single base substitution A G intron_variant ESAD-UK 17 57146251 57146251 single base substitution T A intron_variant ESAD-UK 17 57146332 57146332 single base substitution C G intron_variant ESAD-UK 17 57148185 57148185 single base substitution T G downstream_gene_variant ESAD-UK 17 57148185 57148185 single base substitution T G missense_variant S144R 430A>C ESAD-UK 17 57148185 57148185 single base substitution T G missense_variant S148R 442A>C ESAD-UK 17 57148185 57148185 single base substitution T G missense_variant S236R 706A>C ESAD-UK 17 57148185 57148185 single base substitution T G missense_variant S270R 808A>C ESAD-UK 17 57148185 57148185 single base substitution T G splice_region_variant ESAD-UK 17 57149021 57149021 single base substitution C T downstream_gene_variant ESAD-UK 17 57149021 57149021 single base substitution C T intron_variant ESAD-UK 17 57151587 57151587 single base substitution C G downstream_gene_variant ESAD-UK 17 57151587 57151587 single base substitution C G intron_variant ESAD-UK 17 57154552 57154552 single base substitution C A downstream_gene_variant ESAD-UK 17 57154552 57154552 single base substitution C A intron_variant ESAD-UK 17 57157547 57157547 single base substitution A C intron_variant ESAD-UK 17 57157547 57157547 single base substitution A C upstream_gene_variant ESAD-UK 17 57157569 57157569 single base substitution T C intron_variant ESAD-UK 17 57157569 57157569 single base substitution T C upstream_gene_variant ESAD-UK 17 57162503 57162503 single base substitution T C downstream_gene_variant ESAD-UK 17 57162503 57162503 single base substitution T C intron_variant ESAD-UK 17 57162503 57162503 single base substitution T C upstream_gene_variant ESAD-UK 17 57168334 57168334 single base substitution G A intron_variant ESAD-UK 17 57171453 57171453 single base substitution C T intron_variant ESAD-UK 17 57172105 57172105 single base substitution G C intron_variant ESAD-UK 17 57173267 57173267 single base substitution G A intron_variant ESAD-UK 17 57175279 57175279 single base substitution C T intron_variant ESAD-UK 17 57175359 57175359 single base substitution T C intron_variant ESAD-UK 17 57175776 57175776 single base substitution T C intron_variant ESAD-UK 17 57175888 57175888 single base substitution C T intron_variant ESAD-UK 17 57177471 57177471 single base substitution T G intron_variant ESAD-UK 17 57177710 57177710 single base substitution G A intron_variant ESAD-UK 17 57183917 57183917 single base substitution T A 5_prime_UTR_variant ESAD-UK 17 57183917 57183917 single base substitution T A exon_variant ESAD-UK 17 57183917 57183917 single base substitution T A upstream_gene_variant ESAD-UK 17 57184075 57184075 single base substitution T C 5_prime_UTR_variant ESAD-UK 17 57184075 57184075 single base substitution T C upstream_gene_variant ESAD-UK 17 57184401 57184401 single base substitution G C upstream_gene_variant ESAD-UK 17 57185068 57185070 deletion of <=200bp TAA - upstream_gene_variant ESAD-UK 17 57185192 57185192 single base substitution G C upstream_gene_variant ESAD-UK 17 57185233 57185233 single base substitution A C upstream_gene_variant ESAD-UK 17 57186565 57186565 single base substitution G A upstream_gene_variant ESCA-CN 17 57057541 57057541 single base substitution C T downstream_gene_variant ESCA-CN 17 57057669 57057669 insertion of <=200bp - G downstream_gene_variant ESCA-CN 17 57062369 57062369 single base substitution T A intron_variant ESCA-CN 17 57078863 57078863 single base substitution G A intron_variant ESCA-CN 17 57089588 57089588 single base substitution G C intron_variant ESCA-CN 17 57126545 57126545 single base substitution A G 3_prime_UTR_variant ESCA-CN 17 57126545 57126545 single base substitution A G synonymous_variant D386D 1158T>C ESCA-CN 17 57126545 57126545 single base substitution A G synonymous_variant D474D 1422T>C ESCA-CN 17 57126545 57126545 single base substitution A G synonymous_variant D508D 1524T>C KIRC-US 17 57057344 57057344 single base substitution A C downstream_gene_variant KIRC-US 17 57057404 57057404 single base substitution A C downstream_gene_variant KIRC-US 17 57058007 57058007 single base substitution C T downstream_gene_variant KIRC-US 17 57078981 57078981 single base substitution G A intron_variant KIRC-US 17 57078981 57078981 single base substitution G A synonymous_variant V83V 249C>T KIRC-US 17 57078981 57078981 single base substitution G A synonymous_variant V896V 2688C>T KIRC-US 17 57078981 57078981 single base substitution G A synonymous_variant V930V 2790C>T KIRC-US 17 57079057 57079057 single base substitution T G intron_variant KIRC-US 17 57079057 57079057 single base substitution T G missense_variant D58A 173A>C KIRC-US 17 57079057 57079057 single base substitution T G missense_variant D871A 2612A>C KIRC-US 17 57079057 57079057 single base substitution T G missense_variant D905A 2714A>C KIRC-US 17 57181741 57181741 single base substitution A G 5_prime_UTR_variant KIRC-US 17 57181741 57181741 single base substitution A G exon_variant KIRC-US 17 57181741 57181741 single base substitution A G intron_variant KIRC-US 17 57181741 57181741 single base substitution A G synonymous_variant V12V 36T>C KIRP-US 17 57078973 57078974 deletion of <=200bp TG - frameshift_variant Q86 KIRP-US 17 57078973 57078974 deletion of <=200bp TG - frameshift_variant Q899 KIRP-US 17 57078973 57078974 deletion of <=200bp TG - frameshift_variant Q933 KIRP-US 17 57078973 57078974 deletion of <=200bp TG - intron_variant KIRP-US 17 57134407 57134407 single base substitution T C 3_prime_UTR_variant KIRP-US 17 57134407 57134407 single base substitution T C downstream_gene_variant KIRP-US 17 57134407 57134407 single base substitution T C missense_variant Y221C 662A>G KIRP-US 17 57134407 57134407 single base substitution T C missense_variant Y309C 926A>G KIRP-US 17 57134407 57134407 single base substitution T C missense_variant Y343C 1028A>G LAML-KR 17 57076893 57076893 single base substitution T A intron_variant LAML-KR 17 57089588 57089588 single base substitution G C intron_variant LAML-KR 17 57181028 57181028 single base substitution G T intron_variant LAML-KR 17 57185644 57185644 single base substitution T A upstream_gene_variant LGG-US 17 57153020 57153020 single base substitution C A 3_prime_UTR_variant LGG-US 17 57153020 57153020 single base substitution C A downstream_gene_variant LGG-US 17 57153020 57153020 single base substitution C A exon_variant LGG-US 17 57153020 57153020 single base substitution C A missense_variant E102D 306G>T LGG-US 17 57153020 57153020 single base substitution C A missense_variant E190D 570G>T LGG-US 17 57153020 57153020 single base substitution C A missense_variant E224D 672G>T LGG-US 17 57153020 57153020 single base substitution C A missense_variant E82D 246G>T LICA-FR 17 57063866 57063866 insertion of <=200bp - T intron_variant LICA-FR 17 57073404 57073404 single base substitution T C downstream_gene_variant LICA-FR 17 57073404 57073404 single base substitution T C intron_variant LICA-FR 17 57093138 57093138 single base substitution A T 3_prime_UTR_variant LICA-FR 17 57093138 57093138 single base substitution A T synonymous_variant S681S 2043T>A LICA-FR 17 57093138 57093138 single base substitution A T synonymous_variant S769S 2307T>A LICA-FR 17 57093138 57093138 single base substitution A T synonymous_variant S803S 2409T>A LICA-FR 17 57093138 57093138 single base substitution A T upstream_gene_variant LICA-FR 17 57105302 57105302 single base substitution T C intron_variant LICA-FR 17 57114770 57114770 single base substitution T A intron_variant LICA-FR 17 57114883 57114883 single base substitution C A intron_variant LICA-FR 17 57140063 57140063 single base substitution C T downstream_gene_variant LICA-FR 17 57140063 57140063 single base substitution C T intron_variant LICA-FR 17 57143253 57143253 single base substitution G A intron_variant LICA-FR 17 57148015 57148015 single base substitution A G intron_variant LICA-FR 17 57151486 57151486 single base substitution T C downstream_gene_variant LICA-FR 17 57151486 57151486 single base substitution T C intron_variant LICA-FR 17 57157132 57157132 single base substitution T A 3_prime_UTR_variant LICA-FR 17 57157132 57157132 single base substitution T A downstream_gene_variant LICA-FR 17 57157132 57157132 single base substitution T A exon_variant LICA-FR 17 57157132 57157132 single base substitution T A missense_variant K166M 497A>T LICA-FR 17 57157132 57157132 single base substitution T A missense_variant K200M 599A>T LICA-FR 17 57157132 57157132 single base substitution T A missense_variant K58M 173A>T LICA-FR 17 57157132 57157132 single base substitution T A missense_variant K78M 233A>T LIHC-US 17 57057829 57057829 single base substitution T A downstream_gene_variant LIHC-US 17 57093047 57093047 single base substitution C A 3_prime_UTR_variant LIHC-US 17 57093047 57093047 single base substitution C A missense_variant D712Y 2134G>T LIHC-US 17 57093047 57093047 single base substitution C A missense_variant D800Y 2398G>T LIHC-US 17 57093047 57093047 single base substitution C A missense_variant D834Y 2500G>T LIHC-US 17 57093047 57093047 single base substitution C A upstream_gene_variant LIHC-US 17 57138433 57138433 single base substitution C A 3_prime_UTR_variant LIHC-US 17 57138433 57138433 single base substitution C A downstream_gene_variant LIHC-US 17 57138433 57138433 single base substitution C A missense_variant V205L 613G>T LIHC-US 17 57138433 57138433 single base substitution C A missense_variant V293L 877G>T LIHC-US 17 57138433 57138433 single base substitution C A missense_variant V327L 979G>T LINC-JP 17 57066915 57066915 single base substitution G C intron_variant LINC-JP 17 57070867 57070867 single base substitution T C downstream_gene_variant LINC-JP 17 57070867 57070867 single base substitution T C intron_variant LINC-JP 17 57078039 57078039 deletion of <=200bp T - intron_variant LINC-JP 17 57078816 57078816 deletion of <=200bp A - intron_variant LINC-JP 17 57079855 57079855 single base substitution T C intron_variant LINC-JP 17 57092979 57092979 single base substitution G A 3_prime_UTR_variant LINC-JP 17 57092979 57092979 single base substitution G A synonymous_variant V734V 2202C>T LINC-JP 17 57092979 57092979 single base substitution G A synonymous_variant V822V 2466C>T LINC-JP 17 57092979 57092979 single base substitution G A synonymous_variant V856V 2568C>T LINC-JP 17 57092979 57092979 single base substitution G A upstream_gene_variant LINC-JP 17 57106465 57106465 single base substitution A T intron_variant LINC-JP 17 57108102 57108102 single base substitution G T intron_variant LINC-JP 17 57125016 57125016 single base substitution C T intron_variant LINC-JP 17 57125383 57125383 single base substitution C A intron_variant LINC-JP 17 57125384 57125384 single base substitution C A intron_variant LINC-JP 17 57127472 57127472 single base substitution T C intron_variant LINC-JP 17 57130790 57130790 single base substitution T C intron_variant LINC-JP 17 57131317 57131317 single base substitution A T intron_variant LINC-JP 17 57133578 57133578 single base substitution C T downstream_gene_variant LINC-JP 17 57133578 57133578 single base substitution C T intron_variant LINC-JP 17 57134253 57134253 insertion of <=200bp - ATTT 3_prime_UTR_variant LINC-JP 17 57134253 57134253 insertion of <=200bp - ATTT downstream_gene_variant LINC-JP 17 57134253 57134253 insertion of <=200bp - ATTT frameshift_variant N272NK? LINC-JP 17 57134253 57134253 insertion of <=200bp - ATTT frameshift_variant N360NK? LINC-JP 17 57134253 57134253 insertion of <=200bp - ATTT frameshift_variant N394NK? LINC-JP 17 57139878 57139878 single base substitution T C downstream_gene_variant LINC-JP 17 57139878 57139878 single base substitution T C intron_variant LINC-JP 17 57148134 57148134 single base substitution C G downstream_gene_variant LINC-JP 17 57148134 57148134 single base substitution C G intron_variant LINC-JP 17 57151820 57151820 single base substitution T C downstream_gene_variant LINC-JP 17 57151820 57151820 single base substitution T C intron_variant LINC-JP 17 57153605 57153605 single base substitution T C downstream_gene_variant LINC-JP 17 57153605 57153605 single base substitution T C intron_variant LINC-JP 17 57165467 57165467 single base substitution G C downstream_gene_variant LINC-JP 17 57165467 57165467 single base substitution G C exon_variant LINC-JP 17 57165467 57165467 single base substitution G C intron_variant LINC-JP 17 57167419 57167419 single base substitution C A exon_variant LINC-JP 17 57167419 57167419 single base substitution C A intron_variant LINC-JP 17 57168677 57168677 single base substitution G A 5_prime_UTR_variant LINC-JP 17 57168677 57168677 single base substitution G A exon_variant LINC-JP 17 57168677 57168677 single base substitution G A stop_gained Q16* 46C>T LINC-JP 17 57168677 57168677 single base substitution G A stop_gained Q50* 148C>T LINC-JP 17 57169418 57169418 single base substitution A G intron_variant LINC-JP 17 57178044 57178044 single base substitution C T intron_variant LIRI-JP 17 57060669 57060673 deletion of <=200bp TAGAG - intron_variant LIRI-JP 17 57065039 57065039 single base substitution C A intron_variant LIRI-JP 17 57065401 57065401 single base substitution G T intron_variant LIRI-JP 17 57066568 57066568 single base substitution G A intron_variant LIRI-JP 17 57068863 57068863 single base substitution A C intron_variant LIRI-JP 17 57071075 57071075 single base substitution G T downstream_gene_variant LIRI-JP 17 57071075 57071075 single base substitution G T intron_variant LIRI-JP 17 57071741 57071741 single base substitution T C downstream_gene_variant LIRI-JP 17 57071741 57071741 single base substitution T C intron_variant LIRI-JP 17 57072598 57072598 single base substitution T C downstream_gene_variant LIRI-JP 17 57072598 57072598 single base substitution T C intron_variant LIRI-JP 17 57073555 57073555 single base substitution C T downstream_gene_variant LIRI-JP 17 57073555 57073555 single base substitution C T intron_variant LIRI-JP 17 57076530 57076530 single base substitution A T 3_prime_UTR_variant LIRI-JP 17 57076530 57076530 single base substitution A T intron_variant LIRI-JP 17 57076616 57076616 single base substitution A G 3_prime_UTR_variant LIRI-JP 17 57076616 57076616 single base substitution A G intron_variant LIRI-JP 17 57077559 57077559 single base substitution A G intron_variant LIRI-JP 17 57082502 57082502 single base substitution T G intron_variant LIRI-JP 17 57082967 57082967 single base substitution T A intron_variant LIRI-JP 17 57084244 57084244 single base substitution T A intron_variant LIRI-JP 17 57084742 57084742 single base substitution T C intron_variant LIRI-JP 17 57085445 57085445 single base substitution G A intron_variant LIRI-JP 17 57085554 57085554 single base substitution T C intron_variant LIRI-JP 17 57090569 57090569 single base substitution A G intron_variant LIRI-JP 17 57090569 57090569 single base substitution A G upstream_gene_variant LIRI-JP 17 57092633 57092633 single base substitution T C intron_variant LIRI-JP 17 57092633 57092633 single base substitution T C upstream_gene_variant LIRI-JP 17 57094126 57094126 single base substitution C T intron_variant LIRI-JP 17 57094126 57094126 single base substitution C T upstream_gene_variant LIRI-JP 17 57095914 57095914 single base substitution T A intron_variant LIRI-JP 17 57095914 57095914 single base substitution T A upstream_gene_variant LIRI-JP 17 57099178 57099178 single base substitution T C intron_variant LIRI-JP 17 57099239 57099239 single base substitution C A intron_variant LIRI-JP 17 57100017 57100017 single base substitution A G intron_variant LIRI-JP 17 57101435 57101435 single base substitution C T intron_variant LIRI-JP 17 57102190 57102190 single base substitution C G intron_variant LIRI-JP 17 57102498 57102498 single base substitution A C intron_variant LIRI-JP 17 57105725 57105725 single base substitution T C intron_variant LIRI-JP 17 57107576 57107576 single base substitution C A intron_variant LIRI-JP 17 57109539 57109539 single base substitution T C intron_variant LIRI-JP 17 57112039 57112039 deletion of <=200bp C - intron_variant LIRI-JP 17 57112355 57112355 single base substitution A G intron_variant LIRI-JP 17 57115625 57115625 single base substitution T C intron_variant LIRI-JP 17 57116292 57116292 single base substitution T C intron_variant LIRI-JP 17 57116700 57116700 single base substitution G C intron_variant LIRI-JP 17 57116865 57116865 single base substitution A G intron_variant LIRI-JP 17 57118405 57118405 single base substitution C T intron_variant LIRI-JP 17 57121750 57121750 single base substitution T A intron_variant LIRI-JP 17 57122006 57122006 single base substitution T C intron_variant LIRI-JP 17 57122302 57122302 single base substitution G T intron_variant LIRI-JP 17 57123827 57123827 single base substitution C A intron_variant LIRI-JP 17 57125206 57125206 single base substitution C A intron_variant LIRI-JP 17 57128963 57128963 single base substitution T C intron_variant LIRI-JP 17 57131311 57131311 deletion of <=200bp T - intron_variant LIRI-JP 17 57134558 57134558 single base substitution A G downstream_gene_variant LIRI-JP 17 57134558 57134558 single base substitution A G intron_variant LIRI-JP 17 57135515 57135515 single base substitution T C downstream_gene_variant LIRI-JP 17 57135515 57135515 single base substitution T C intron_variant LIRI-JP 17 57137269 57137269 single base substitution A C downstream_gene_variant LIRI-JP 17 57137269 57137269 single base substitution A C intron_variant LIRI-JP 17 57141079 57141079 deletion of <=200bp T - downstream_gene_variant LIRI-JP 17 57141079 57141079 deletion of <=200bp T - intron_variant LIRI-JP 17 57146926 57146926 single base substitution T C intron_variant LIRI-JP 17 57148957 57148957 single base substitution T C downstream_gene_variant LIRI-JP 17 57148957 57148957 single base substitution T C intron_variant LIRI-JP 17 57150403 57150403 single base substitution T G downstream_gene_variant LIRI-JP 17 57150403 57150403 single base substitution T G intron_variant LIRI-JP 17 57153477 57153477 single base substitution A G downstream_gene_variant LIRI-JP 17 57153477 57153477 single base substitution A G intron_variant LIRI-JP 17 57153919 57153919 single base substitution A G downstream_gene_variant LIRI-JP 17 57153919 57153919 single base substitution A G intron_variant LIRI-JP 17 57154539 57154539 single base substitution T C downstream_gene_variant LIRI-JP 17 57154539 57154539 single base substitution T C intron_variant LIRI-JP 17 57156241 57156241 single base substitution T C downstream_gene_variant LIRI-JP 17 57156241 57156241 single base substitution T C intron_variant LIRI-JP 17 57159652 57159652 single base substitution A G intron_variant LIRI-JP 17 57159652 57159652 single base substitution A G upstream_gene_variant LIRI-JP 17 57159756 57159756 single base substitution T C intron_variant LIRI-JP 17 57159756 57159756 single base substitution T C upstream_gene_variant LIRI-JP 17 57160042 57160042 single base substitution T C intron_variant LIRI-JP 17 57160042 57160042 single base substitution T C upstream_gene_variant LIRI-JP 17 57160922 57160922 single base substitution G A downstream_gene_variant LIRI-JP 17 57160922 57160922 single base substitution G A intron_variant LIRI-JP 17 57160922 57160922 single base substitution G A upstream_gene_variant LIRI-JP 17 57162425 57162425 single base substitution C T downstream_gene_variant LIRI-JP 17 57162425 57162425 single base substitution C T intron_variant LIRI-JP 17 57162425 57162425 single base substitution C T upstream_gene_variant LIRI-JP 17 57164037 57164037 single base substitution T C downstream_gene_variant LIRI-JP 17 57164037 57164037 single base substitution T C intron_variant LIRI-JP 17 57166970 57166970 single base substitution C G intron_variant LIRI-JP 17 57167662 57167662 single base substitution T C intron_variant LIRI-JP 17 57171241 57171241 single base substitution T C intron_variant LIRI-JP 17 57174942 57174942 single base substitution T C intron_variant LIRI-JP 17 57175577 57175577 single base substitution C A intron_variant LIRI-JP 17 57175658 57175658 single base substitution G A intron_variant LIRI-JP 17 57176129 57176129 single base substitution T C intron_variant LIRI-JP 17 57176430 57176430 single base substitution G C intron_variant LIRI-JP 17 57176446 57176446 single base substitution A C intron_variant LIRI-JP 17 57176730 57176730 single base substitution T C intron_variant LIRI-JP 17 57177123 57177123 single base substitution T C intron_variant LIRI-JP 17 57179269 57179269 single base substitution T C intron_variant LIRI-JP 17 57179695 57179695 single base substitution A G intron_variant LIRI-JP 17 57180623 57180623 single base substitution A G intron_variant LIRI-JP 17 57181357 57181357 single base substitution T G intron_variant LIRI-JP 17 57182750 57182750 insertion of <=200bp - AAC intron_variant LIRI-JP 17 57185483 57185483 single base substitution C T upstream_gene_variant LUSC-KR 17 57057959 57057959 single base substitution C T downstream_gene_variant LUSC-KR 17 57062133 57062133 single base substitution T G intron_variant LUSC-KR 17 57064014 57064014 single base substitution C A intron_variant LUSC-KR 17 57064058 57064058 single base substitution C T intron_variant LUSC-KR 17 57072787 57072787 single base substitution T A downstream_gene_variant LUSC-KR 17 57072787 57072787 single base substitution T A intron_variant LUSC-KR 17 57073810 57073810 single base substitution G A downstream_gene_variant LUSC-KR 17 57073810 57073810 single base substitution G A intron_variant LUSC-KR 17 57078560 57078560 single base substitution C A intron_variant LUSC-KR 17 57084596 57084596 single base substitution A C intron_variant LUSC-KR 17 57088516 57088516 single base substitution C T intron_variant LUSC-KR 17 57090551 57090551 single base substitution C A intron_variant LUSC-KR 17 57090551 57090551 single base substitution C A upstream_gene_variant LUSC-KR 17 57092999 57092999 single base substitution C G 3_prime_UTR_variant LUSC-KR 17 57092999 57092999 single base substitution C G missense_variant E728Q 2182G>C LUSC-KR 17 57092999 57092999 single base substitution C G missense_variant E816Q 2446G>C LUSC-KR 17 57092999 57092999 single base substitution C G missense_variant E850Q 2548G>C LUSC-KR 17 57092999 57092999 single base substitution C G upstream_gene_variant LUSC-KR 17 57095748 57095748 single base substitution A T intron_variant LUSC-KR 17 57095748 57095748 single base substitution A T upstream_gene_variant LUSC-KR 17 57098051 57098051 single base substitution C T intron_variant LUSC-KR 17 57104273 57104273 single base substitution C G intron_variant LUSC-KR 17 57106464 57106464 single base substitution C G intron_variant LUSC-KR 17 57119385 57119385 single base substitution G A intron_variant LUSC-KR 17 57122355 57122355 single base substitution C A intron_variant LUSC-KR 17 57135838 57135838 single base substitution C T downstream_gene_variant LUSC-KR 17 57135838 57135838 single base substitution C T intron_variant LUSC-KR 17 57142906 57142906 single base substitution T A intron_variant LUSC-KR 17 57158487 57158487 single base substitution T C 3_prime_UTR_variant LUSC-KR 17 57158487 57158487 single base substitution T C intron_variant LUSC-KR 17 57158487 57158487 single base substitution T C missense_variant M121V 361A>G LUSC-KR 17 57158487 57158487 single base substitution T C missense_variant M13V 37A>G LUSC-KR 17 57158487 57158487 single base substitution T C missense_variant M155V 463A>G LUSC-KR 17 57158487 57158487 single base substitution T C missense_variant M33V 97A>G LUSC-KR 17 57158487 57158487 single base substitution T C upstream_gene_variant LUSC-KR 17 57159298 57159298 single base substitution C A intron_variant LUSC-KR 17 57159298 57159298 single base substitution C A upstream_gene_variant LUSC-KR 17 57162000 57162000 single base substitution C A downstream_gene_variant LUSC-KR 17 57162000 57162000 single base substitution C A intron_variant LUSC-KR 17 57162000 57162000 single base substitution C A upstream_gene_variant LUSC-KR 17 57162001 57162001 single base substitution C A downstream_gene_variant LUSC-KR 17 57162001 57162001 single base substitution C A intron_variant LUSC-KR 17 57162001 57162001 single base substitution C A upstream_gene_variant LUSC-KR 17 57173898 57173898 single base substitution G T intron_variant LUSC-KR 17 57177250 57177250 single base substitution C A intron_variant LUSC-KR 17 57179723 57179723 single base substitution C A intron_variant LUSC-KR 17 57181524 57181524 single base substitution C T intron_variant LUSC-KR 17 57182468 57182468 single base substitution G A intron_variant LUSC-US 17 57057444 57057444 single base substitution C A downstream_gene_variant LUSC-US 17 57093108 57093108 single base substitution C G 3_prime_UTR_variant LUSC-US 17 57093108 57093108 single base substitution C G missense_variant L691F 2073G>C LUSC-US 17 57093108 57093108 single base substitution C G missense_variant L779F 2337G>C LUSC-US 17 57093108 57093108 single base substitution C G missense_variant L813F 2439G>C LUSC-US 17 57093108 57093108 single base substitution C G upstream_gene_variant LUSC-US 17 57094780 57094780 single base substitution T C 3_prime_UTR_variant LUSC-US 17 57094780 57094780 single base substitution T C missense_variant N633D 1897A>G LUSC-US 17 57094780 57094780 single base substitution T C missense_variant N721D 2161A>G LUSC-US 17 57094780 57094780 single base substitution T C missense_variant N755D 2263A>G LUSC-US 17 57094780 57094780 single base substitution T C upstream_gene_variant LUSC-US 17 57109409 57109409 single base substitution C G 3_prime_UTR_variant LUSC-US 17 57109409 57109409 single base substitution C G missense_variant R477T 1430G>C LUSC-US 17 57109409 57109409 single base substitution C G missense_variant R565T 1694G>C LUSC-US 17 57109409 57109409 single base substitution C G missense_variant R599T 1796G>C LUSC-US 17 57126641 57126641 single base substitution T C 3_prime_UTR_variant LUSC-US 17 57126641 57126641 single base substitution T C synonymous_variant A354A 1062A>G LUSC-US 17 57126641 57126641 single base substitution T C synonymous_variant A442A 1326A>G LUSC-US 17 57126641 57126641 single base substitution T C synonymous_variant A476A 1428A>G LUSC-US 17 57134397 57134397 single base substitution C G 3_prime_UTR_variant LUSC-US 17 57134397 57134397 single base substitution C G downstream_gene_variant LUSC-US 17 57134397 57134397 single base substitution C G missense_variant E224D 672G>C LUSC-US 17 57134397 57134397 single base substitution C G missense_variant E312D 936G>C LUSC-US 17 57134397 57134397 single base substitution C G missense_variant E346D 1038G>C LUSC-US 17 57158532 57158532 single base substitution C A 3_prime_UTR_variant LUSC-US 17 57158532 57158532 single base substitution C A exon_variant LUSC-US 17 57158532 57158532 single base substitution C A intron_variant LUSC-US 17 57158532 57158532 single base substitution C A missense_variant V106F 316G>T LUSC-US 17 57158532 57158532 single base substitution C A missense_variant V140F 418G>T LUSC-US 17 57158532 57158532 single base substitution C A missense_variant V18F 52G>T LUSC-US 17 57158532 57158532 single base substitution C A upstream_gene_variant LUSC-US 17 57181689 57181689 single base substitution G T 5_prime_UTR_variant LUSC-US 17 57181689 57181689 single base substitution G T exon_variant LUSC-US 17 57181689 57181689 single base substitution G T intron_variant LUSC-US 17 57181689 57181689 single base substitution G T missense_variant H30N 88C>A MALY-DE 17 57063232 57063232 insertion of <=200bp - A intron_variant MALY-DE 17 57073103 57073103 single base substitution A G downstream_gene_variant MALY-DE 17 57073103 57073103 single base substitution A G intron_variant MALY-DE 17 57078045 57078045 single base substitution T C intron_variant MALY-DE 17 57080644 57080644 deletion of <=200bp A - intron_variant MALY-DE 17 57092144 57092144 single base substitution T A intron_variant MALY-DE 17 57092144 57092144 single base substitution T A upstream_gene_variant MALY-DE 17 57094960 57094960 single base substitution C T intron_variant MALY-DE 17 57094960 57094960 single base substitution C T upstream_gene_variant MALY-DE 17 57096477 57096477 single base substitution A G intron_variant MALY-DE 17 57096477 57096477 single base substitution A G upstream_gene_variant MALY-DE 17 57108553 57108553 single base substitution C G intron_variant MALY-DE 17 57108739 57108739 single base substitution A T intron_variant MALY-DE 17 57117085 57117085 single base substitution A C intron_variant MALY-DE 17 57141548 57141548 single base substitution A G exon_variant MALY-DE 17 57141548 57141548 single base substitution A G intron_variant MALY-DE 17 57145876 57145876 single base substitution C G intron_variant MALY-DE 17 57147804 57147804 insertion of <=200bp - A intron_variant MALY-DE 17 57149694 57149694 single base substitution A T downstream_gene_variant MALY-DE 17 57149694 57149694 single base substitution A T intron_variant MALY-DE 17 57151108 57151108 single base substitution A G downstream_gene_variant MALY-DE 17 57151108 57151108 single base substitution A G intron_variant MALY-DE 17 57178713 57178713 single base substitution G T intron_variant MALY-DE 17 57184503 57184503 single base substitution G C upstream_gene_variant MALY-DE 17 57186979 57186979 single base substitution C T upstream_gene_variant MELA-AU 17 57056021 57056021 single base substitution G A downstream_gene_variant MELA-AU 17 57056344 57056344 single base substitution A G downstream_gene_variant MELA-AU 17 57056469 57056469 single base substitution G A downstream_gene_variant MELA-AU 17 57056528 57056528 single base substitution G A downstream_gene_variant MELA-AU 17 57056564 57056564 single base substitution G A downstream_gene_variant MELA-AU 17 57057443 57057443 single base substitution C T downstream_gene_variant MELA-AU 17 57057653 57057653 single base substitution G A downstream_gene_variant MELA-AU 17 57057681 57057681 single base substitution G A downstream_gene_variant MELA-AU 17 57057983 57057983 single base substitution G A downstream_gene_variant MELA-AU 17 57058033 57058033 single base substitution G A downstream_gene_variant MELA-AU 17 57058106 57058106 single base substitution G A downstream_gene_variant MELA-AU 17 57058469 57058469 single base substitution C T downstream_gene_variant MELA-AU 17 57058769 57058769 single base substitution G A downstream_gene_variant MELA-AU 17 57058833 57058833 single base substitution G A downstream_gene_variant MELA-AU 17 57059011 57059011 single base substitution G A downstream_gene_variant MELA-AU 17 57059979 57059979 single base substitution A G downstream_gene_variant MELA-AU 17 57061180 57061180 single base substitution G A intron_variant MELA-AU 17 57061552 57061552 single base substitution G A intron_variant MELA-AU 17 57061758 57061758 single base substitution T C intron_variant MELA-AU 17 57061885 57061885 single base substitution A G intron_variant MELA-AU 17 57062216 57062216 single base substitution G T intron_variant MELA-AU 17 57062719 57062719 single base substitution G A intron_variant MELA-AU 17 57062728 57062728 single base substitution C T intron_variant MELA-AU 17 57063663 57063663 single base substitution G A intron_variant MELA-AU 17 57063686 57063686 single base substitution A T intron_variant MELA-AU 17 57063743 57063743 single base substitution G A intron_variant MELA-AU 17 57063770 57063771 multiple base substitution (>=2bp and <=200bp) GG AC intron_variant MELA-AU 17 57063775 57063775 single base substitution G A intron_variant MELA-AU 17 57064299 57064299 single base substitution C A intron_variant MELA-AU 17 57064824 57064824 single base substitution G A intron_variant MELA-AU 17 57064852 57064852 single base substitution G A intron_variant MELA-AU 17 57064878 57064878 single base substitution C T intron_variant MELA-AU 17 57065197 57065197 single base substitution T A intron_variant MELA-AU 17 57065855 57065855 single base substitution G A intron_variant MELA-AU 17 57065861 57065861 single base substitution G A intron_variant MELA-AU 17 57065977 57065977 single base substitution C T intron_variant MELA-AU 17 57066054 57066054 single base substitution G A intron_variant MELA-AU 17 57066521 57066521 single base substitution G A intron_variant MELA-AU 17 57066569 57066569 single base substitution G A intron_variant MELA-AU 17 57066618 57066618 single base substitution G A intron_variant MELA-AU 17 57066784 57066784 single base substitution G A intron_variant MELA-AU 17 57067182 57067182 single base substitution G A intron_variant MELA-AU 17 57067829 57067829 single base substitution G A intron_variant MELA-AU 17 57067938 57067938 single base substitution G A intron_variant MELA-AU 17 57067976 57067976 single base substitution A G intron_variant MELA-AU 17 57068175 57068175 single base substitution G A intron_variant MELA-AU 17 57068188 57068188 single base substitution A C intron_variant MELA-AU 17 57068422 57068422 single base substitution G A intron_variant MELA-AU 17 57068689 57068689 single base substitution G A intron_variant MELA-AU 17 57069177 57069177 single base substitution G A intron_variant MELA-AU 17 57069635 57069635 single base substitution T A intron_variant MELA-AU 17 57069670 57069670 single base substitution A G intron_variant MELA-AU 17 57070130 57070130 single base substitution C T intron_variant MELA-AU 17 57070884 57070884 single base substitution G A downstream_gene_variant MELA-AU 17 57070884 57070884 single base substitution G A intron_variant MELA-AU 17 57070941 57070941 single base substitution G A downstream_gene_variant MELA-AU 17 57070941 57070941 single base substitution G A intron_variant MELA-AU 17 57071232 57071232 single base substitution G A downstream_gene_variant MELA-AU 17 57071232 57071232 single base substitution G A intron_variant MELA-AU 17 57071249 57071249 single base substitution G A downstream_gene_variant MELA-AU 17 57071249 57071249 single base substitution G A intron_variant MELA-AU 17 57071404 57071405 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 17 57071404 57071405 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 57071694 57071694 single base substitution G A downstream_gene_variant MELA-AU 17 57071694 57071694 single base substitution G A intron_variant MELA-AU 17 57072704 57072704 single base substitution G A downstream_gene_variant MELA-AU 17 57072704 57072704 single base substitution G A intron_variant MELA-AU 17 57072941 57072941 single base substitution A G downstream_gene_variant MELA-AU 17 57072941 57072941 single base substitution A G intron_variant MELA-AU 17 57073308 57073308 single base substitution T A downstream_gene_variant MELA-AU 17 57073308 57073308 single base substitution T A intron_variant MELA-AU 17 57073508 57073508 single base substitution C T downstream_gene_variant MELA-AU 17 57073508 57073508 single base substitution C T intron_variant MELA-AU 17 57074284 57074284 single base substitution G A downstream_gene_variant MELA-AU 17 57074284 57074284 single base substitution G A intron_variant MELA-AU 17 57075159 57075159 single base substitution G A downstream_gene_variant MELA-AU 17 57075159 57075159 single base substitution G A intron_variant MELA-AU 17 57076038 57076038 single base substitution A T 3_prime_UTR_variant MELA-AU 17 57076038 57076038 single base substitution A T downstream_gene_variant MELA-AU 17 57076038 57076038 single base substitution A T intron_variant MELA-AU 17 57076229 57076229 single base substitution A T 3_prime_UTR_variant MELA-AU 17 57076229 57076229 single base substitution A T downstream_gene_variant MELA-AU 17 57076229 57076229 single base substitution A T intron_variant MELA-AU 17 57076395 57076395 single base substitution G T 3_prime_UTR_variant MELA-AU 17 57076395 57076395 single base substitution G T intron_variant MELA-AU 17 57076855 57076855 single base substitution T C intron_variant MELA-AU 17 57077094 57077094 single base substitution G A intron_variant MELA-AU 17 57077119 57077119 single base substitution G A intron_variant MELA-AU 17 57077656 57077656 single base substitution A G intron_variant MELA-AU 17 57078382 57078382 single base substitution C T intron_variant MELA-AU 17 57078675 57078675 single base substitution C T intron_variant MELA-AU 17 57079105 57079105 single base substitution G A intron_variant MELA-AU 17 57079105 57079105 single base substitution G A splice_region_variant MELA-AU 17 57079130 57079130 single base substitution G A intron_variant MELA-AU 17 57079473 57079473 single base substitution T A intron_variant MELA-AU 17 57080153 57080153 single base substitution G A intron_variant MELA-AU 17 57081117 57081117 single base substitution G A intron_variant MELA-AU 17 57082175 57082175 single base substitution G A intron_variant MELA-AU 17 57082308 57082308 single base substitution C T intron_variant MELA-AU 17 57082440 57082440 single base substitution G A intron_variant MELA-AU 17 57082565 57082565 single base substitution G A intron_variant MELA-AU 17 57083246 57083246 single base substitution G A intron_variant MELA-AU 17 57083441 57083441 single base substitution T A intron_variant MELA-AU 17 57083521 57083521 single base substitution G A intron_variant MELA-AU 17 57083762 57083762 single base substitution C T intron_variant MELA-AU 17 57083798 57083798 single base substitution G A intron_variant MELA-AU 17 57083956 57083956 single base substitution G A intron_variant MELA-AU 17 57083996 57083996 single base substitution T C intron_variant MELA-AU 17 57084176 57084176 single base substitution G A intron_variant MELA-AU 17 57085320 57085320 single base substitution T A intron_variant MELA-AU 17 57085655 57085655 single base substitution G A intron_variant MELA-AU 17 57086810 57086810 single base substitution T C intron_variant MELA-AU 17 57087624 57087624 single base substitution G A intron_variant MELA-AU 17 57087627 57087627 single base substitution G A intron_variant MELA-AU 17 57087972 57087972 single base substitution G A intron_variant MELA-AU 17 57088113 57088113 single base substitution C A intron_variant MELA-AU 17 57088124 57088124 single base substitution G A intron_variant MELA-AU 17 57088307 57088307 single base substitution G A intron_variant MELA-AU 17 57088700 57088700 single base substitution A C intron_variant MELA-AU 17 57089318 57089318 single base substitution T G intron_variant MELA-AU 17 57090296 57090296 single base substitution G A intron_variant MELA-AU 17 57090296 57090296 single base substitution G A upstream_gene_variant MELA-AU 17 57090379 57090379 single base substitution G A intron_variant MELA-AU 17 57090379 57090379 single base substitution G A upstream_gene_variant MELA-AU 17 57090588 57090588 single base substitution G A intron_variant MELA-AU 17 57090588 57090588 single base substitution G A upstream_gene_variant MELA-AU 17 57091512 57091512 single base substitution G A intron_variant MELA-AU 17 57091512 57091512 single base substitution G A upstream_gene_variant MELA-AU 17 57091704 57091704 single base substitution G A intron_variant MELA-AU 17 57091704 57091704 single base substitution G A upstream_gene_variant MELA-AU 17 57091833 57091833 single base substitution G A intron_variant MELA-AU 17 57091833 57091833 single base substitution G A upstream_gene_variant MELA-AU 17 57091884 57091884 single base substitution T C intron_variant MELA-AU 17 57091884 57091884 single base substitution T C upstream_gene_variant MELA-AU 17 57091919 57091919 single base substitution G A intron_variant MELA-AU 17 57091919 57091919 single base substitution G A upstream_gene_variant MELA-AU 17 57091946 57091946 single base substitution G A intron_variant MELA-AU 17 57091946 57091946 single base substitution G A upstream_gene_variant MELA-AU 17 57092559 57092559 single base substitution G A intron_variant MELA-AU 17 57092559 57092559 single base substitution G A upstream_gene_variant MELA-AU 17 57093157 57093157 single base substitution G A 3_prime_UTR_variant MELA-AU 17 57093157 57093157 single base substitution G A missense_variant S675F 2024C>T MELA-AU 17 57093157 57093157 single base substitution G A missense_variant S763F 2288C>T MELA-AU 17 57093157 57093157 single base substitution G A missense_variant S797F 2390C>T MELA-AU 17 57093157 57093157 single base substitution G A upstream_gene_variant MELA-AU 17 57094267 57094267 single base substitution G A intron_variant MELA-AU 17 57094267 57094267 single base substitution G A upstream_gene_variant MELA-AU 17 57094904 57094904 single base substitution A T intron_variant MELA-AU 17 57094904 57094904 single base substitution A T upstream_gene_variant MELA-AU 17 57095175 57095175 single base substitution G A intron_variant MELA-AU 17 57095175 57095175 single base substitution G A upstream_gene_variant MELA-AU 17 57095269 57095270 multiple base substitution (>=2bp and <=200bp) GG AC intron_variant MELA-AU 17 57095269 57095270 multiple base substitution (>=2bp and <=200bp) GG AC upstream_gene_variant MELA-AU 17 57095307 57095307 single base substitution G A intron_variant MELA-AU 17 57095307 57095307 single base substitution G A upstream_gene_variant MELA-AU 17 57095328 57095328 single base substitution G A intron_variant MELA-AU 17 57095328 57095328 single base substitution G A upstream_gene_variant MELA-AU 17 57095677 57095677 single base substitution C T intron_variant MELA-AU 17 57095677 57095677 single base substitution C T upstream_gene_variant MELA-AU 17 57096398 57096398 single base substitution A C intron_variant MELA-AU 17 57096398 57096398 single base substitution A C upstream_gene_variant MELA-AU 17 57096795 57096795 single base substitution G A intron_variant MELA-AU 17 57096795 57096795 single base substitution G A upstream_gene_variant MELA-AU 17 57097152 57097153 multiple base substitution (>=2bp and <=200bp) GG AC intron_variant MELA-AU 17 57097152 57097153 multiple base substitution (>=2bp and <=200bp) GG AC upstream_gene_variant MELA-AU 17 57097499 57097499 single base substitution G A intron_variant MELA-AU 17 57097499 57097499 single base substitution G A upstream_gene_variant MELA-AU 17 57098237 57098237 single base substitution G A intron_variant MELA-AU 17 57098685 57098685 single base substitution G A intron_variant MELA-AU 17 57098820 57098820 single base substitution G A intron_variant MELA-AU 17 57098905 57098905 single base substitution A C intron_variant MELA-AU 17 57099726 57099726 single base substitution A T intron_variant MELA-AU 17 57100189 57100189 single base substitution G A intron_variant MELA-AU 17 57100194 57100194 single base substitution G A intron_variant MELA-AU 17 57100415 57100415 single base substitution G A intron_variant MELA-AU 17 57100886 57100886 single base substitution G A intron_variant MELA-AU 17 57101161 57101161 single base substitution A G intron_variant MELA-AU 17 57101826 57101826 single base substitution T C intron_variant MELA-AU 17 57102169 57102169 single base substitution G A intron_variant MELA-AU 17 57102378 57102378 single base substitution G A intron_variant MELA-AU 17 57102633 57102633 single base substitution T A intron_variant MELA-AU 17 57102842 57102842 single base substitution T A intron_variant MELA-AU 17 57102883 57102883 single base substitution G A intron_variant MELA-AU 17 57102994 57102994 single base substitution G A intron_variant MELA-AU 17 57103758 57103758 single base substitution G A intron_variant MELA-AU 17 57104048 57104048 single base substitution C T intron_variant MELA-AU 17 57104140 57104140 single base substitution G A intron_variant MELA-AU 17 57104395 57104395 single base substitution C T intron_variant MELA-AU 17 57104546 57104546 single base substitution G A intron_variant MELA-AU 17 57104763 57104763 single base substitution G A intron_variant MELA-AU 17 57104772 57104772 single base substitution C T intron_variant MELA-AU 17 57105624 57105624 single base substitution G A intron_variant MELA-AU 17 57105984 57105984 single base substitution G A 3_prime_UTR_variant MELA-AU 17 57105984 57105984 single base substitution G A synonymous_variant A561A 1683C>T MELA-AU 17 57105984 57105984 single base substitution G A synonymous_variant A649A 1947C>T MELA-AU 17 57105984 57105984 single base substitution G A synonymous_variant A683A 2049C>T MELA-AU 17 57107003 57107003 single base substitution A G intron_variant MELA-AU 17 57108031 57108031 single base substitution G A intron_variant MELA-AU 17 57108517 57108518 multiple base substitution (>=2bp and <=200bp) AA TT intron_variant MELA-AU 17 57109405 57109405 single base substitution T A 3_prime_UTR_variant MELA-AU 17 57109405 57109405 single base substitution T A missense_variant R478S 1434A>T MELA-AU 17 57109405 57109405 single base substitution T A missense_variant R566S 1698A>T MELA-AU 17 57109405 57109405 single base substitution T A missense_variant R600S 1800A>T MELA-AU 17 57110843 57110843 single base substitution G A intron_variant MELA-AU 17 57111042 57111042 single base substitution T A intron_variant MELA-AU 17 57111502 57111502 single base substitution G A intron_variant MELA-AU 17 57111634 57111634 single base substitution G A intron_variant MELA-AU 17 57112439 57112439 single base substitution G A intron_variant MELA-AU 17 57113913 57113913 single base substitution G A intron_variant MELA-AU 17 57114829 57114829 single base substitution G A intron_variant MELA-AU 17 57116754 57116754 single base substitution T C intron_variant MELA-AU 17 57116832 57116832 single base substitution C T intron_variant MELA-AU 17 57116964 57116964 single base substitution C T intron_variant MELA-AU 17 57117277 57117277 single base substitution G A intron_variant MELA-AU 17 57117393 57117393 single base substitution G A intron_variant MELA-AU 17 57117502 57117502 single base substitution A T intron_variant MELA-AU 17 57117561 57117561 single base substitution C T intron_variant MELA-AU 17 57118090 57118090 single base substitution A T intron_variant MELA-AU 17 57118180 57118180 single base substitution G A intron_variant MELA-AU 17 57118183 57118183 single base substitution G A intron_variant MELA-AU 17 57118579 57118579 single base substitution G A intron_variant MELA-AU 17 57119383 57119383 single base substitution G A intron_variant MELA-AU 17 57119729 57119729 single base substitution C G intron_variant MELA-AU 17 57120687 57120687 single base substitution G A intron_variant MELA-AU 17 57120975 57120975 single base substitution C G intron_variant MELA-AU 17 57121501 57121501 single base substitution C T intron_variant MELA-AU 17 57121830 57121830 single base substitution G A intron_variant MELA-AU 17 57122759 57122759 single base substitution G A intron_variant MELA-AU 17 57122908 57122908 single base substitution G A intron_variant MELA-AU 17 57123429 57123429 single base substitution G A intron_variant MELA-AU 17 57123842 57123842 single base substitution G A intron_variant MELA-AU 17 57123942 57123942 single base substitution G A intron_variant MELA-AU 17 57123961 57123961 single base substitution G A intron_variant MELA-AU 17 57123973 57123973 single base substitution C A intron_variant MELA-AU 17 57124334 57124334 single base substitution T C intron_variant MELA-AU 17 57124501 57124501 single base substitution G A intron_variant MELA-AU 17 57124523 57124523 single base substitution G A intron_variant MELA-AU 17 57124814 57124814 single base substitution G A intron_variant MELA-AU 17 57125914 57125914 single base substitution G A intron_variant MELA-AU 17 57126995 57126995 single base substitution G A intron_variant MELA-AU 17 57127685 57127685 single base substitution G A intron_variant MELA-AU 17 57128022 57128022 single base substitution G A intron_variant MELA-AU 17 57128421 57128421 single base substitution A G intron_variant MELA-AU 17 57129376 57129376 single base substitution G A intron_variant MELA-AU 17 57129691 57129691 single base substitution G A intron_variant MELA-AU 17 57130640 57130640 single base substitution A G intron_variant MELA-AU 17 57130684 57130684 single base substitution G A intron_variant MELA-AU 17 57130863 57130863 single base substitution A T intron_variant MELA-AU 17 57131756 57131756 single base substitution G A intron_variant MELA-AU 17 57132848 57132848 single base substitution G A intron_variant MELA-AU 17 57133131 57133131 single base substitution C T intron_variant MELA-AU 17 57133155 57133155 single base substitution G A intron_variant MELA-AU 17 57133594 57133594 single base substitution G A downstream_gene_variant MELA-AU 17 57133594 57133594 single base substitution G A intron_variant MELA-AU 17 57134354 57134354 single base substitution G A 3_prime_UTR_variant MELA-AU 17 57134354 57134354 single base substitution G A downstream_gene_variant MELA-AU 17 57134354 57134354 single base substitution G A stop_gained R239* 715C>T MELA-AU 17 57134354 57134354 single base substitution G A stop_gained R327* 979C>T MELA-AU 17 57134354 57134354 single base substitution G A stop_gained R361* 1081C>T MELA-AU 17 57134693 57134693 single base substitution G A downstream_gene_variant MELA-AU 17 57134693 57134693 single base substitution G A intron_variant MELA-AU 17 57134909 57134909 single base substitution G A downstream_gene_variant MELA-AU 17 57134909 57134909 single base substitution G A intron_variant MELA-AU 17 57136521 57136521 single base substitution A C downstream_gene_variant MELA-AU 17 57136521 57136521 single base substitution A C intron_variant MELA-AU 17 57138148 57138148 single base substitution G A downstream_gene_variant MELA-AU 17 57138148 57138148 single base substitution G A intron_variant MELA-AU 17 57138628 57138628 single base substitution A G downstream_gene_variant MELA-AU 17 57138628 57138628 single base substitution A G intron_variant MELA-AU 17 57139061 57139061 single base substitution G A downstream_gene_variant MELA-AU 17 57139061 57139061 single base substitution G A intron_variant MELA-AU 17 57139204 57139204 single base substitution G A downstream_gene_variant MELA-AU 17 57139204 57139204 single base substitution G A intron_variant MELA-AU 17 57139227 57139227 single base substitution A C downstream_gene_variant MELA-AU 17 57139227 57139227 single base substitution A C intron_variant MELA-AU 17 57139281 57139281 single base substitution G A downstream_gene_variant MELA-AU 17 57139281 57139281 single base substitution G A intron_variant MELA-AU 17 57141400 57141400 single base substitution G A downstream_gene_variant MELA-AU 17 57141400 57141400 single base substitution G A intron_variant MELA-AU 17 57143561 57143561 single base substitution G T intron_variant MELA-AU 17 57144067 57144067 single base substitution G A intron_variant MELA-AU 17 57146292 57146292 single base substitution G A intron_variant MELA-AU 17 57146323 57146323 single base substitution G A intron_variant MELA-AU 17 57146695 57146695 single base substitution G A intron_variant MELA-AU 17 57146799 57146799 single base substitution G A intron_variant MELA-AU 17 57147109 57147109 single base substitution G A intron_variant MELA-AU 17 57148426 57148426 single base substitution C T downstream_gene_variant MELA-AU 17 57148426 57148426 single base substitution C T intron_variant MELA-AU 17 57148731 57148731 single base substitution C A downstream_gene_variant MELA-AU 17 57148731 57148731 single base substitution C A intron_variant MELA-AU 17 57148868 57148868 insertion of <=200bp - G downstream_gene_variant MELA-AU 17 57148868 57148868 insertion of <=200bp - G intron_variant MELA-AU 17 57149237 57149237 single base substitution A T downstream_gene_variant MELA-AU 17 57149237 57149237 single base substitution A T intron_variant MELA-AU 17 57149560 57149560 single base substitution G A downstream_gene_variant MELA-AU 17 57149560 57149560 single base substitution G A intron_variant MELA-AU 17 57149582 57149582 single base substitution G A downstream_gene_variant MELA-AU 17 57149582 57149582 single base substitution G A intron_variant MELA-AU 17 57150331 57150331 single base substitution A T downstream_gene_variant MELA-AU 17 57150331 57150331 single base substitution A T intron_variant MELA-AU 17 57150407 57150407 single base substitution T G downstream_gene_variant MELA-AU 17 57150407 57150407 single base substitution T G intron_variant MELA-AU 17 57150845 57150845 single base substitution G A downstream_gene_variant MELA-AU 17 57150845 57150845 single base substitution G A intron_variant MELA-AU 17 57151774 57151774 single base substitution A G downstream_gene_variant MELA-AU 17 57151774 57151774 single base substitution A G intron_variant MELA-AU 17 57151785 57151785 single base substitution G A downstream_gene_variant MELA-AU 17 57151785 57151785 single base substitution G A intron_variant MELA-AU 17 57152035 57152035 single base substitution A T downstream_gene_variant MELA-AU 17 57152035 57152035 single base substitution A T intron_variant MELA-AU 17 57152138 57152138 single base substitution G A downstream_gene_variant MELA-AU 17 57152138 57152138 single base substitution G A intron_variant MELA-AU 17 57152416 57152416 single base substitution G A downstream_gene_variant MELA-AU 17 57152416 57152416 single base substitution G A intron_variant MELA-AU 17 57153129 57153129 single base substitution G A downstream_gene_variant MELA-AU 17 57153129 57153129 single base substitution G A intron_variant MELA-AU 17 57153174 57153174 single base substitution C T downstream_gene_variant MELA-AU 17 57153174 57153174 single base substitution C T intron_variant MELA-AU 17 57153410 57153410 single base substitution G A downstream_gene_variant MELA-AU 17 57153410 57153410 single base substitution G A intron_variant MELA-AU 17 57153963 57153964 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 17 57153963 57153964 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 57154213 57154213 single base substitution G A downstream_gene_variant MELA-AU 17 57154213 57154213 single base substitution G A intron_variant MELA-AU 17 57154926 57154926 single base substitution A G downstream_gene_variant MELA-AU 17 57154926 57154926 single base substitution A G intron_variant MELA-AU 17 57155066 57155066 single base substitution G A downstream_gene_variant MELA-AU 17 57155066 57155066 single base substitution G A intron_variant MELA-AU 17 57155677 57155677 single base substitution G A downstream_gene_variant MELA-AU 17 57155677 57155677 single base substitution G A intron_variant MELA-AU 17 57155728 57155728 single base substitution G A downstream_gene_variant MELA-AU 17 57155728 57155728 single base substitution G A intron_variant MELA-AU 17 57156213 57156213 single base substitution G A downstream_gene_variant MELA-AU 17 57156213 57156213 single base substitution G A intron_variant MELA-AU 17 57156222 57156222 deletion of <=200bp A - downstream_gene_variant MELA-AU 17 57156222 57156222 deletion of <=200bp A - intron_variant MELA-AU 17 57156521 57156522 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 17 57156521 57156522 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 57157440 57157440 single base substitution T C intron_variant MELA-AU 17 57157440 57157440 single base substitution T C upstream_gene_variant MELA-AU 17 57157453 57157453 single base substitution C T intron_variant MELA-AU 17 57157453 57157453 single base substitution C T upstream_gene_variant MELA-AU 17 57157747 57157747 single base substitution G A intron_variant MELA-AU 17 57157747 57157747 single base substitution G A upstream_gene_variant MELA-AU 17 57158046 57158046 single base substitution G A intron_variant MELA-AU 17 57158046 57158046 single base substitution G A upstream_gene_variant MELA-AU 17 57158141 57158141 single base substitution A G intron_variant MELA-AU 17 57158141 57158141 single base substitution A G upstream_gene_variant MELA-AU 17 57158356 57158356 single base substitution G A intron_variant MELA-AU 17 57158356 57158356 single base substitution G A upstream_gene_variant MELA-AU 17 57158738 57158738 single base substitution T C intron_variant MELA-AU 17 57158738 57158738 single base substitution T C upstream_gene_variant MELA-AU 17 57159262 57159262 single base substitution C T intron_variant MELA-AU 17 57159262 57159262 single base substitution C T upstream_gene_variant MELA-AU 17 57159450 57159450 single base substitution G A intron_variant MELA-AU 17 57159450 57159450 single base substitution G A upstream_gene_variant MELA-AU 17 57160065 57160065 single base substitution A G intron_variant MELA-AU 17 57160065 57160065 single base substitution A G upstream_gene_variant MELA-AU 17 57160732 57160732 single base substitution G A downstream_gene_variant MELA-AU 17 57160732 57160732 single base substitution G A intron_variant MELA-AU 17 57160732 57160732 single base substitution G A upstream_gene_variant MELA-AU 17 57160747 57160747 single base substitution C T downstream_gene_variant MELA-AU 17 57160747 57160747 single base substitution C T intron_variant MELA-AU 17 57160747 57160747 single base substitution C T upstream_gene_variant MELA-AU 17 57161491 57161491 single base substitution G A downstream_gene_variant MELA-AU 17 57161491 57161491 single base substitution G A intron_variant MELA-AU 17 57161491 57161491 single base substitution G A upstream_gene_variant MELA-AU 17 57163384 57163384 single base substitution G A downstream_gene_variant MELA-AU 17 57163384 57163384 single base substitution G A intron_variant MELA-AU 17 57163384 57163384 single base substitution G A upstream_gene_variant MELA-AU 17 57164220 57164220 single base substitution T C downstream_gene_variant MELA-AU 17 57164220 57164220 single base substitution T C intron_variant MELA-AU 17 57164592 57164592 single base substitution G A downstream_gene_variant MELA-AU 17 57164592 57164592 single base substitution G A intron_variant MELA-AU 17 57165804 57165804 single base substitution G A intron_variant MELA-AU 17 57166541 57166541 single base substitution G A intron_variant MELA-AU 17 57167218 57167218 single base substitution C T intron_variant MELA-AU 17 57167440 57167440 single base substitution G A exon_variant MELA-AU 17 57167440 57167440 single base substitution G A intron_variant MELA-AU 17 57167884 57167884 single base substitution G A intron_variant MELA-AU 17 57167945 57167945 single base substitution G A intron_variant MELA-AU 17 57168603 57168603 single base substitution G C intron_variant MELA-AU 17 57168932 57168932 single base substitution A G intron_variant MELA-AU 17 57169128 57169128 single base substitution G A intron_variant MELA-AU 17 57169454 57169454 single base substitution C T intron_variant MELA-AU 17 57169516 57169516 single base substitution G A intron_variant MELA-AU 17 57170529 57170529 single base substitution A T intron_variant MELA-AU 17 57172047 57172047 single base substitution A G intron_variant MELA-AU 17 57172089 57172089 single base substitution G A intron_variant MELA-AU 17 57172614 57172614 single base substitution G A intron_variant MELA-AU 17 57173000 57173000 single base substitution G A intron_variant MELA-AU 17 57173461 57173461 single base substitution G A intron_variant MELA-AU 17 57173462 57173462 single base substitution G A intron_variant MELA-AU 17 57173689 57173689 single base substitution G A intron_variant MELA-AU 17 57173840 57173840 single base substitution G A intron_variant MELA-AU 17 57174104 57174104 single base substitution C T intron_variant MELA-AU 17 57174995 57174995 single base substitution C G intron_variant MELA-AU 17 57176471 57176471 single base substitution G A intron_variant MELA-AU 17 57176797 57176797 single base substitution G A intron_variant MELA-AU 17 57177228 57177228 single base substitution G A intron_variant MELA-AU 17 57177657 57177657 single base substitution G A intron_variant MELA-AU 17 57177973 57177973 single base substitution G A intron_variant MELA-AU 17 57177991 57177991 single base substitution G A intron_variant MELA-AU 17 57178025 57178025 single base substitution G A intron_variant MELA-AU 17 57178277 57178277 single base substitution G A intron_variant MELA-AU 17 57179082 57179082 single base substitution C T intron_variant MELA-AU 17 57179208 57179208 single base substitution G A intron_variant MELA-AU 17 57180228 57180228 single base substitution G A intron_variant MELA-AU 17 57180228 57180229 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 57180328 57180328 single base substitution G A intron_variant MELA-AU 17 57181152 57181152 single base substitution G A intron_variant MELA-AU 17 57181659 57181659 single base substitution T A 5_prime_UTR_variant MELA-AU 17 57181659 57181659 single base substitution T A exon_variant MELA-AU 17 57181659 57181659 single base substitution T A intron_variant MELA-AU 17 57181659 57181659 single base substitution T A missense_variant I40F 118A>T MELA-AU 17 57181969 57181969 single base substitution G A intron_variant MELA-AU 17 57182162 57182162 single base substitution G A intron_variant MELA-AU 17 57182429 57182429 single base substitution G C intron_variant MELA-AU 17 57183172 57183172 single base substitution T C intron_variant MELA-AU 17 57183373 57183373 single base substitution G A intron_variant MELA-AU 17 57184274 57184274 single base substitution G A 5_prime_UTR_variant MELA-AU 17 57184274 57184274 single base substitution G A upstream_gene_variant MELA-AU 17 57184474 57184474 single base substitution G A upstream_gene_variant MELA-AU 17 57185442 57185442 single base substitution G A upstream_gene_variant MELA-AU 17 57185600 57185600 single base substitution G A upstream_gene_variant MELA-AU 17 57185970 57185970 single base substitution G A upstream_gene_variant MELA-AU 17 57187171 57187171 single base substitution T A upstream_gene_variant MELA-AU 17 57187463 57187463 single base substitution G A upstream_gene_variant MELA-AU 17 57187626 57187626 single base substitution G A upstream_gene_variant MELA-AU 17 57187732 57187732 single base substitution T C upstream_gene_variant MELA-AU 17 57187736 57187736 single base substitution C T upstream_gene_variant ORCA-IN 17 57074169 57074169 single base substitution G T downstream_gene_variant ORCA-IN 17 57074169 57074169 single base substitution G T intron_variant ORCA-IN 17 57081017 57081017 insertion of <=200bp - AC intron_variant ORCA-IN 17 57103393 57103393 single base substitution G C intron_variant ORCA-IN 17 57125054 57125054 single base substitution C A 3_prime_UTR_variant ORCA-IN 17 57125054 57125054 single base substitution C A stop_gained E431* 1291G>T ORCA-IN 17 57125054 57125054 single base substitution C A stop_gained E519* 1555G>T ORCA-IN 17 57125054 57125054 single base substitution C A stop_gained E553* 1657G>T ORCA-IN 17 57143375 57143375 single base substitution C T intron_variant ORCA-IN 17 57146001 57146001 single base substitution T C intron_variant ORCA-IN 17 57163640 57163640 single base substitution C T downstream_gene_variant ORCA-IN 17 57163640 57163640 single base substitution C T intron_variant OV-AU 17 57058621 57058621 single base substitution T C downstream_gene_variant OV-AU 17 57060191 57060191 single base substitution C G 3_prime_UTR_variant OV-AU 17 57060690 57060690 single base substitution G T intron_variant OV-AU 17 57063409 57063409 single base substitution A C intron_variant OV-AU 17 57067506 57067506 single base substitution C T intron_variant OV-AU 17 57068157 57068157 single base substitution A C intron_variant OV-AU 17 57078082 57078082 single base substitution T A intron_variant OV-AU 17 57079524 57079524 single base substitution C G intron_variant OV-AU 17 57083473 57083473 single base substitution A C intron_variant OV-AU 17 57094858 57094858 single base substitution A T intron_variant OV-AU 17 57094858 57094858 single base substitution A T upstream_gene_variant OV-AU 17 57096154 57096154 single base substitution C A intron_variant OV-AU 17 57096154 57096154 single base substitution C A upstream_gene_variant OV-AU 17 57107899 57107899 single base substitution C G intron_variant OV-AU 17 57113284 57113284 single base substitution G A intron_variant OV-AU 17 57129515 57129515 single base substitution C G intron_variant OV-AU 17 57131373 57131373 single base substitution T A intron_variant OV-AU 17 57138896 57138896 single base substitution G T downstream_gene_variant OV-AU 17 57138896 57138896 single base substitution G T intron_variant OV-AU 17 57145775 57145775 single base substitution C T intron_variant OV-AU 17 57150357 57150357 single base substitution G C downstream_gene_variant OV-AU 17 57150357 57150357 single base substitution G C intron_variant OV-AU 17 57150978 57150978 single base substitution G C downstream_gene_variant OV-AU 17 57150978 57150978 single base substitution G C intron_variant OV-AU 17 57158505 57158505 single base substitution T G 3_prime_UTR_variant OV-AU 17 57158505 57158505 single base substitution T G intron_variant OV-AU 17 57158505 57158505 single base substitution T G missense_variant K115Q 343A>C OV-AU 17 57158505 57158505 single base substitution T G missense_variant K149Q 445A>C OV-AU 17 57158505 57158505 single base substitution T G missense_variant K27Q 79A>C OV-AU 17 57158505 57158505 single base substitution T G missense_variant K7Q 19A>C OV-AU 17 57158505 57158505 single base substitution T G upstream_gene_variant OV-AU 17 57161848 57161848 single base substitution C T downstream_gene_variant OV-AU 17 57161848 57161848 single base substitution C T intron_variant OV-AU 17 57161848 57161848 single base substitution C T upstream_gene_variant OV-AU 17 57165939 57165939 single base substitution A G intron_variant OV-AU 17 57169092 57169092 single base substitution G A intron_variant OV-AU 17 57169093 57169093 single base substitution C A intron_variant OV-AU 17 57172052 57172052 single base substitution A T intron_variant OV-AU 17 57183739 57183739 single base substitution C A intron_variant OV-AU 17 57185640 57185640 single base substitution A T upstream_gene_variant OV-US 17 57128679 57128679 single base substitution G C 3_prime_UTR_variant OV-US 17 57128679 57128679 single base substitution G C missense_variant R282G 844C>G OV-US 17 57128679 57128679 single base substitution G C missense_variant R370G 1108C>G OV-US 17 57128679 57128679 single base substitution G C missense_variant R404G 1210C>G PACA-AU 17 57055165 57055165 single base substitution G A downstream_gene_variant PACA-AU 17 57056373 57056373 single base substitution T A downstream_gene_variant PACA-AU 17 57070085 57070085 single base substitution A G intron_variant PACA-AU 17 57070514 57070514 deletion of <=200bp C - intron_variant PACA-AU 17 57103050 57103050 single base substitution C G intron_variant PACA-AU 17 57113197 57113197 single base substitution A G intron_variant PACA-AU 17 57113808 57113808 single base substitution G T intron_variant PACA-AU 17 57121273 57121275 deletion of <=200bp ACA - intron_variant PACA-AU 17 57124538 57124538 single base substitution T A intron_variant PACA-AU 17 57125050 57125050 single base substitution T C 3_prime_UTR_variant PACA-AU 17 57125050 57125050 single base substitution T C missense_variant E432G 1295A>G PACA-AU 17 57125050 57125050 single base substitution T C missense_variant E520G 1559A>G PACA-AU 17 57125050 57125050 single base substitution T C missense_variant E554G 1661A>G PACA-AU 17 57128020 57128020 single base substitution C T intron_variant PACA-AU 17 57134793 57134793 single base substitution T C downstream_gene_variant PACA-AU 17 57134793 57134793 single base substitution T C intron_variant PACA-AU 17 57138428 57138428 single base substitution A G 3_prime_UTR_variant PACA-AU 17 57138428 57138428 single base substitution A G downstream_gene_variant PACA-AU 17 57138428 57138428 single base substitution A G synonymous_variant F206F 618T>C PACA-AU 17 57138428 57138428 single base substitution A G synonymous_variant F294F 882T>C PACA-AU 17 57138428 57138428 single base substitution A G synonymous_variant F328F 984T>C PACA-AU 17 57143507 57143507 insertion of <=200bp - A intron_variant PACA-AU 17 57151487 57151487 single base substitution G T downstream_gene_variant PACA-AU 17 57151487 57151487 single base substitution G T intron_variant PACA-AU 17 57152187 57152187 single base substitution C T downstream_gene_variant PACA-AU 17 57152187 57152187 single base substitution C T intron_variant PACA-AU 17 57153865 57153865 single base substitution G C downstream_gene_variant PACA-AU 17 57153865 57153865 single base substitution G C intron_variant PACA-AU 17 57164403 57164403 single base substitution C G downstream_gene_variant PACA-AU 17 57164403 57164403 single base substitution C G intron_variant PACA-AU 17 57165834 57165834 single base substitution G A intron_variant PACA-AU 17 57166906 57166906 single base substitution G T intron_variant PACA-AU 17 57170288 57170288 single base substitution T G intron_variant PACA-AU 17 57170341 57170341 single base substitution G A intron_variant PACA-AU 17 57174063 57174063 single base substitution A T intron_variant PACA-AU 17 57176650 57176650 single base substitution C A intron_variant PACA-CA 17 57064034 57064034 single base substitution T C intron_variant PACA-CA 17 57064083 57064083 single base substitution T A intron_variant PACA-CA 17 57064577 57064577 single base substitution T G intron_variant PACA-CA 17 57064711 57064711 single base substitution G C intron_variant PACA-CA 17 57064716 57064716 single base substitution G A intron_variant PACA-CA 17 57070419 57070419 single base substitution T C intron_variant PACA-CA 17 57071808 57071808 single base substitution C T downstream_gene_variant PACA-CA 17 57071808 57071808 single base substitution C T intron_variant PACA-CA 17 57074155 57074155 single base substitution G A downstream_gene_variant PACA-CA 17 57074155 57074155 single base substitution G A intron_variant PACA-CA 17 57074443 57074443 single base substitution C T downstream_gene_variant PACA-CA 17 57074443 57074443 single base substitution C T intron_variant PACA-CA 17 57075268 57075268 single base substitution C T downstream_gene_variant PACA-CA 17 57075268 57075268 single base substitution C T intron_variant PACA-CA 17 57075962 57075962 single base substitution G A 3_prime_UTR_variant PACA-CA 17 57075962 57075962 single base substitution G A downstream_gene_variant PACA-CA 17 57075962 57075962 single base substitution G A intron_variant PACA-CA 17 57080579 57080579 single base substitution C T intron_variant PACA-CA 17 57083089 57083089 single base substitution T C intron_variant PACA-CA 17 57083886 57083886 single base substitution G A intron_variant PACA-CA 17 57091587 57091587 single base substitution G A intron_variant PACA-CA 17 57091587 57091587 single base substitution G A upstream_gene_variant PACA-CA 17 57091763 57091763 single base substitution G A intron_variant PACA-CA 17 57091763 57091763 single base substitution G A upstream_gene_variant PACA-CA 17 57092806 57092806 single base substitution A C intron_variant PACA-CA 17 57092806 57092806 single base substitution A C upstream_gene_variant PACA-CA 17 57094095 57094095 single base substitution G A intron_variant PACA-CA 17 57094095 57094095 single base substitution G A upstream_gene_variant PACA-CA 17 57094453 57094453 single base substitution C T intron_variant PACA-CA 17 57094453 57094453 single base substitution C T upstream_gene_variant PACA-CA 17 57095507 57095507 single base substitution A T intron_variant PACA-CA 17 57095507 57095507 single base substitution A T upstream_gene_variant PACA-CA 17 57096001 57096001 single base substitution G T intron_variant PACA-CA 17 57096001 57096001 single base substitution G T upstream_gene_variant PACA-CA 17 57101082 57101082 insertion of <=200bp - A intron_variant PACA-CA 17 57105223 57105223 single base substitution C T intron_variant PACA-CA 17 57107010 57107010 single base substitution C T intron_variant PACA-CA 17 57110609 57110609 single base substitution T C intron_variant PACA-CA 17 57111892 57111892 single base substitution G C intron_variant PACA-CA 17 57112948 57112948 insertion of <=200bp - A intron_variant PACA-CA 17 57116536 57116536 single base substitution C T intron_variant PACA-CA 17 57120719 57120719 single base substitution A G intron_variant PACA-CA 17 57122063 57122063 single base substitution G T intron_variant PACA-CA 17 57122453 57122453 single base substitution C T intron_variant PACA-CA 17 57122494 57122494 single base substitution T C intron_variant PACA-CA 17 57122924 57122924 single base substitution C T intron_variant PACA-CA 17 57123250 57123250 single base substitution G A intron_variant PACA-CA 17 57125379 57125379 single base substitution C T intron_variant PACA-CA 17 57126247 57126247 single base substitution C T intron_variant PACA-CA 17 57126338 57126338 insertion of <=200bp - T intron_variant PACA-CA 17 57133445 57133445 deletion of <=200bp A - intron_variant PACA-CA 17 57141174 57141174 insertion of <=200bp - C downstream_gene_variant PACA-CA 17 57141174 57141174 insertion of <=200bp - C intron_variant PACA-CA 17 57141361 57141361 single base substitution C T downstream_gene_variant PACA-CA 17 57141361 57141361 single base substitution C T intron_variant PACA-CA 17 57142746 57142746 single base substitution T C intron_variant PACA-CA 17 57147635 57147635 single base substitution C T intron_variant PACA-CA 17 57150773 57150773 single base substitution G A downstream_gene_variant PACA-CA 17 57150773 57150773 single base substitution G A intron_variant PACA-CA 17 57151917 57151917 single base substitution A C downstream_gene_variant PACA-CA 17 57151917 57151917 single base substitution A C intron_variant PACA-CA 17 57154114 57154114 single base substitution A C downstream_gene_variant PACA-CA 17 57154114 57154114 single base substitution A C intron_variant PACA-CA 17 57159136 57159136 single base substitution C T intron_variant PACA-CA 17 57159136 57159136 single base substitution C T upstream_gene_variant PACA-CA 17 57160524 57160524 single base substitution C T downstream_gene_variant PACA-CA 17 57160524 57160524 single base substitution C T intron_variant PACA-CA 17 57160524 57160524 single base substitution C T upstream_gene_variant PACA-CA 17 57160565 57160565 single base substitution G C downstream_gene_variant PACA-CA 17 57160565 57160565 single base substitution G C intron_variant PACA-CA 17 57160565 57160565 single base substitution G C upstream_gene_variant PACA-CA 17 57164910 57164910 single base substitution C T downstream_gene_variant PACA-CA 17 57164910 57164910 single base substitution C T intron_variant PACA-CA 17 57167839 57167880 deletion of <=200bp CAAACCCAACAATTTCTTCTGAAAGTATTATTAAGTGAGAAG - intron_variant PACA-CA 17 57168928 57168928 insertion of <=200bp - AA intron_variant PACA-CA 17 57169773 57169773 single base substitution C A intron_variant PACA-CA 17 57176271 57176271 single base substitution G A intron_variant PACA-CA 17 57178747 57178747 single base substitution A C intron_variant PACA-CA 17 57179156 57179156 single base substitution C T intron_variant PACA-CA 17 57185819 57185819 single base substitution G A upstream_gene_variant PAEN-AU 17 57064212 57064212 single base substitution C A intron_variant PAEN-AU 17 57167711 57167711 single base substitution T C intron_variant PAEN-IT 17 57055424 57055424 single base substitution C A downstream_gene_variant PAEN-IT 17 57068405 57068405 single base substitution G T intron_variant PAEN-IT 17 57127895 57127895 single base substitution C T intron_variant PBCA-DE 17 57061238 57061238 single base substitution G A intron_variant PBCA-DE 17 57061866 57061866 single base substitution G C intron_variant PBCA-DE 17 57067381 57067381 insertion of <=200bp - A intron_variant PBCA-DE 17 57073080 57073080 single base substitution A G downstream_gene_variant PBCA-DE 17 57073080 57073080 single base substitution A G intron_variant PBCA-DE 17 57074697 57074697 insertion of <=200bp - T downstream_gene_variant PBCA-DE 17 57074697 57074697 insertion of <=200bp - T intron_variant PBCA-DE 17 57081376 57081376 single base substitution G A intron_variant PBCA-DE 17 57089589 57089591 deletion of <=200bp CAC - intron_variant PBCA-DE 17 57094465 57094465 single base substitution C T intron_variant PBCA-DE 17 57094465 57094465 single base substitution C T upstream_gene_variant PBCA-DE 17 57102129 57102129 single base substitution T C intron_variant PBCA-DE 17 57104150 57104150 single base substitution C T intron_variant PBCA-DE 17 57109130 57109130 single base substitution A T intron_variant PBCA-DE 17 57114077 57114077 single base substitution T C intron_variant PBCA-DE 17 57115783 57115785 deletion of <=200bp AAT - intron_variant PBCA-DE 17 57121575 57121575 single base substitution G A intron_variant PBCA-DE 17 57122245 57122245 single base substitution T A intron_variant PBCA-DE 17 57125593 57125593 single base substitution C A intron_variant PBCA-DE 17 57131296 57131296 single base substitution A C intron_variant PBCA-DE 17 57132544 57132544 insertion of <=200bp - A intron_variant PBCA-DE 17 57140459 57140459 single base substitution T C downstream_gene_variant PBCA-DE 17 57140459 57140459 single base substitution T C intron_variant PBCA-DE 17 57165498 57165499 deletion of <=200bp CT - downstream_gene_variant PBCA-DE 17 57165498 57165499 deletion of <=200bp CT - exon_variant PBCA-DE 17 57165498 57165499 deletion of <=200bp CT - intron_variant PBCA-DE 17 57171891 57171891 single base substitution G T intron_variant PBCA-DE 17 57177170 57177170 single base substitution T C intron_variant PRAD-CA 17 57062151 57062151 single base substitution C A intron_variant PRAD-CA 17 57068409 57068409 single base substitution G A intron_variant PRAD-CA 17 57074155 57074155 single base substitution G A downstream_gene_variant PRAD-CA 17 57074155 57074155 single base substitution G A intron_variant PRAD-CA 17 57148935 57148935 single base substitution C T downstream_gene_variant PRAD-CA 17 57148935 57148935 single base substitution C T intron_variant PRAD-CA 17 57164837 57164837 single base substitution C T downstream_gene_variant PRAD-CA 17 57164837 57164837 single base substitution C T intron_variant PRAD-CA 17 57171485 57171485 single base substitution C G intron_variant PRAD-CA 17 57173924 57173924 single base substitution C A intron_variant PRAD-UK 17 57058942 57058942 single base substitution G T downstream_gene_variant PRAD-UK 17 57078130 57078130 deletion of <=200bp T - intron_variant PRAD-UK 17 57112843 57112843 single base substitution G A intron_variant PRAD-UK 17 57133566 57133566 single base substitution C T downstream_gene_variant PRAD-UK 17 57133566 57133566 single base substitution C T intron_variant PRAD-UK 17 57133964 57133964 single base substitution G A downstream_gene_variant PRAD-UK 17 57133964 57133964 single base substitution G A intron_variant PRAD-UK 17 57134229 57134229 single base substitution C G downstream_gene_variant PRAD-UK 17 57134229 57134229 single base substitution C G splice_region_variant PRAD-UK 17 57141883 57141883 single base substitution A C intron_variant PRAD-UK 17 57143031 57143031 deletion of <=200bp A - intron_variant PRAD-UK 17 57161235 57161235 single base substitution G A downstream_gene_variant PRAD-UK 17 57161235 57161235 single base substitution G A intron_variant PRAD-UK 17 57161235 57161235 single base substitution G A upstream_gene_variant PRAD-UK 17 57168971 57168971 insertion of <=200bp - ATATATATAATGTATAATATATTATACATTATATATATA intron_variant PRAD-UK 17 57170406 57170406 single base substitution G T intron_variant PRAD-UK 17 57181456 57181456 single base substitution A G intron_variant PRAD-US 17 57128666 57128666 deletion of <=200bp A - 3_prime_UTR_variant PRAD-US 17 57128666 57128666 deletion of <=200bp A - frameshift_variant F286 PRAD-US 17 57128666 57128666 deletion of <=200bp A - frameshift_variant F374 PRAD-US 17 57128666 57128666 deletion of <=200bp A - frameshift_variant F408 READ-US 17 57125156 57125156 single base substitution C T 3_prime_UTR_variant READ-US 17 57125156 57125156 single base substitution C T missense_variant D397N 1189G>A READ-US 17 57125156 57125156 single base substitution C T missense_variant D485N 1453G>A READ-US 17 57125156 57125156 single base substitution C T missense_variant D519N 1555G>A RECA-EU 17 57056346 57056346 single base substitution C T downstream_gene_variant RECA-EU 17 57059363 57059363 single base substitution T A downstream_gene_variant RECA-EU 17 57075689 57075689 single base substitution C G 3_prime_UTR_variant RECA-EU 17 57075689 57075689 single base substitution C G downstream_gene_variant RECA-EU 17 57075689 57075689 single base substitution C G intron_variant RECA-EU 17 57075855 57075855 single base substitution A T 3_prime_UTR_variant RECA-EU 17 57075855 57075855 single base substitution A T downstream_gene_variant RECA-EU 17 57075855 57075855 single base substitution A T intron_variant RECA-EU 17 57085591 57085591 single base substitution C G intron_variant RECA-EU 17 57087718 57087718 single base substitution T G intron_variant RECA-EU 17 57089597 57089597 single base substitution C G intron_variant RECA-EU 17 57089600 57089600 single base substitution C G intron_variant RECA-EU 17 57116060 57116060 single base substitution C T intron_variant RECA-EU 17 57131157 57131157 single base substitution C T intron_variant RECA-EU 17 57134589 57134589 single base substitution T C downstream_gene_variant RECA-EU 17 57134589 57134589 single base substitution T C intron_variant RECA-EU 17 57142358 57142358 single base substitution A C intron_variant RECA-EU 17 57150555 57150555 single base substitution T G downstream_gene_variant RECA-EU 17 57150555 57150555 single base substitution T G intron_variant RECA-EU 17 57158542 57158542 single base substitution A C 3_prime_UTR_variant RECA-EU 17 57158542 57158542 single base substitution A C exon_variant RECA-EU 17 57158542 57158542 single base substitution A C intron_variant RECA-EU 17 57158542 57158542 single base substitution A C stop_gained Y102* 306T>G RECA-EU 17 57158542 57158542 single base substitution A C stop_gained Y136* 408T>G RECA-EU 17 57158542 57158542 single base substitution A C stop_gained Y14* 42T>G RECA-EU 17 57158542 57158542 single base substitution A C upstream_gene_variant RECA-EU 17 57167515 57167515 single base substitution T A intron_variant RECA-EU 17 57174897 57174897 single base substitution G A intron_variant SKCA-BR 17 57059371 57059371 single base substitution G A downstream_gene_variant SKCA-BR 17 57060261 57060261 single base substitution T G 3_prime_UTR_variant SKCA-BR 17 57062566 57062566 single base substitution G A intron_variant SKCA-BR 17 57062815 57062815 single base substitution G A intron_variant SKCA-BR 17 57067039 57067039 single base substitution G A intron_variant SKCA-BR 17 57068175 57068175 single base substitution G A intron_variant SKCA-BR 17 57074532 57074532 single base substitution G A downstream_gene_variant SKCA-BR 17 57074532 57074532 single base substitution G A intron_variant SKCA-BR 17 57075366 57075366 single base substitution T C downstream_gene_variant SKCA-BR 17 57075366 57075366 single base substitution T C intron_variant SKCA-BR 17 57085005 57085005 single base substitution G A intron_variant SKCA-BR 17 57087125 57087125 single base substitution A G intron_variant SKCA-BR 17 57087574 57087574 single base substitution C T intron_variant SKCA-BR 17 57089588 57089588 insertion of <=200bp - GCAGCAGCAGCAGCAGCAC intron_variant SKCA-BR 17 57092067 57092067 single base substitution G A intron_variant SKCA-BR 17 57092067 57092067 single base substitution G A upstream_gene_variant SKCA-BR 17 57093835 57093835 single base substitution G A intron_variant SKCA-BR 17 57093835 57093835 single base substitution G A upstream_gene_variant SKCA-BR 17 57099734 57099734 single base substitution A C intron_variant SKCA-BR 17 57109213 57109213 single base substitution G A intron_variant SKCA-BR 17 57110327 57110327 single base substitution T C intron_variant SKCA-BR 17 57111101 57111101 single base substitution T C intron_variant SKCA-BR 17 57113124 57113124 single base substitution C A intron_variant SKCA-BR 17 57113808 57113808 insertion of <=200bp - GGT intron_variant SKCA-BR 17 57115194 57115194 single base substitution G A intron_variant SKCA-BR 17 57117944 57117944 single base substitution G A intron_variant SKCA-BR 17 57119792 57119793 deletion of <=200bp TA - intron_variant SKCA-BR 17 57121963 57121963 single base substitution G A intron_variant SKCA-BR 17 57122676 57122676 single base substitution C A intron_variant SKCA-BR 17 57130318 57130318 insertion of <=200bp - AAAATCAAATC intron_variant SKCA-BR 17 57130785 57130785 single base substitution C T intron_variant SKCA-BR 17 57134124 57134124 single base substitution G T downstream_gene_variant SKCA-BR 17 57134124 57134124 single base substitution G T intron_variant SKCA-BR 17 57137129 57137129 single base substitution G A downstream_gene_variant SKCA-BR 17 57137129 57137129 single base substitution G A intron_variant SKCA-BR 17 57137294 57137294 single base substitution A C downstream_gene_variant SKCA-BR 17 57137294 57137294 single base substitution A C intron_variant SKCA-BR 17 57137399 57137399 single base substitution G A downstream_gene_variant SKCA-BR 17 57137399 57137399 single base substitution G A intron_variant SKCA-BR 17 57137717 57137717 single base substitution G A downstream_gene_variant SKCA-BR 17 57137717 57137717 single base substitution G A intron_variant SKCA-BR 17 57140381 57140381 single base substitution G A downstream_gene_variant SKCA-BR 17 57140381 57140381 single base substitution G A intron_variant SKCA-BR 17 57140382 57140382 single base substitution C G downstream_gene_variant SKCA-BR 17 57140382 57140382 single base substitution C G intron_variant SKCA-BR 17 57140589 57140589 single base substitution G A downstream_gene_variant SKCA-BR 17 57140589 57140589 single base substitution G A intron_variant SKCA-BR 17 57141219 57141219 single base substitution G A downstream_gene_variant SKCA-BR 17 57141219 57141219 single base substitution G A intron_variant SKCA-BR 17 57141504 57141504 single base substitution G A downstream_gene_variant SKCA-BR 17 57141504 57141504 single base substitution G A intron_variant SKCA-BR 17 57143344 57143344 single base substitution C T intron_variant SKCA-BR 17 57144420 57144433 deletion of <=200bp AGACGCAGTCTCGC - intron_variant SKCA-BR 17 57149695 57149695 single base substitution G A downstream_gene_variant SKCA-BR 17 57149695 57149695 single base substitution G A intron_variant SKCA-BR 17 57153603 57153603 single base substitution G A downstream_gene_variant SKCA-BR 17 57153603 57153603 single base substitution G A intron_variant SKCA-BR 17 57154218 57154218 single base substitution C A downstream_gene_variant SKCA-BR 17 57154218 57154218 single base substitution C A intron_variant SKCA-BR 17 57156741 57156741 single base substitution G A downstream_gene_variant SKCA-BR 17 57156741 57156741 single base substitution G A intron_variant SKCA-BR 17 57156823 57156823 single base substitution G A downstream_gene_variant SKCA-BR 17 57156823 57156823 single base substitution G A intron_variant SKCA-BR 17 57159311 57159314 deletion of <=200bp AAAT - intron_variant SKCA-BR 17 57159311 57159314 deletion of <=200bp AAAT - upstream_gene_variant SKCA-BR 17 57159312 57159314 deletion of <=200bp AAT - intron_variant SKCA-BR 17 57159312 57159314 deletion of <=200bp AAT - upstream_gene_variant SKCA-BR 17 57159989 57159991 deletion of <=200bp CAG - intron_variant SKCA-BR 17 57159989 57159991 deletion of <=200bp CAG - upstream_gene_variant SKCA-BR 17 57159993 57159993 single base substitution T A intron_variant SKCA-BR 17 57159993 57159993 single base substitution T A upstream_gene_variant SKCA-BR 17 57163370 57163370 single base substitution T A downstream_gene_variant SKCA-BR 17 57163370 57163370 single base substitution T A intron_variant SKCA-BR 17 57163370 57163370 single base substitution T A upstream_gene_variant SKCA-BR 17 57164837 57164837 single base substitution C T downstream_gene_variant SKCA-BR 17 57164837 57164837 single base substitution C T intron_variant SKCA-BR 17 57166397 57166397 single base substitution T G intron_variant SKCA-BR 17 57168896 57168935 deletion of <=200bp AATAATGTATAATATATTATACATTATATATATAATATAT - intron_variant SKCA-BR 17 57173924 57173924 single base substitution C A intron_variant SKCA-BR 17 57174466 57174466 single base substitution G A intron_variant SKCA-BR 17 57175683 57175683 single base substitution A T intron_variant SKCA-BR 17 57175750 57175750 single base substitution G A intron_variant SKCA-BR 17 57179040 57179040 single base substitution T A intron_variant SKCA-BR 17 57179056 57179058 deletion of <=200bp TAC - intron_variant SKCA-BR 17 57179058 57179058 single base substitution C T intron_variant SKCA-BR 17 57179238 57179238 single base substitution C T intron_variant SKCA-BR 17 57182468 57182468 single base substitution G A intron_variant SKCA-BR 17 57183844 57183844 single base substitution C G 5_prime_UTR_variant SKCA-BR 17 57183844 57183844 single base substitution C G exon_variant SKCA-BR 17 57183844 57183844 single base substitution C G upstream_gene_variant SKCA-BR 17 57184267 57184267 single base substitution G A 5_prime_UTR_variant SKCA-BR 17 57184267 57184267 single base substitution G A upstream_gene_variant SKCA-BR 17 57185617 57185617 single base substitution C T upstream_gene_variant SKCA-BR 17 57189249 57189249 single base substitution A C upstream_gene_variant SKCM-US 17 57057335 57057335 single base substitution G A downstream_gene_variant SKCM-US 17 57057398 57057398 single base substitution G A downstream_gene_variant SKCM-US 17 57057430 57057430 single base substitution G A downstream_gene_variant SKCM-US 17 57057492 57057492 single base substitution G A downstream_gene_variant SKCM-US 17 57057591 57057591 single base substitution G A downstream_gene_variant SKCM-US 17 57058075 57058075 single base substitution G A downstream_gene_variant SKCM-US 17 57058163 57058163 single base substitution G A downstream_gene_variant SKCM-US 17 57058257 57058257 single base substitution G A downstream_gene_variant SKCM-US 17 57089803 57089803 single base substitution T C 3_prime_UTR_variant SKCM-US 17 57089803 57089803 single base substitution T C missense_variant N5D 13A>G SKCM-US 17 57089803 57089803 single base substitution T C missense_variant N739D 2215A>G SKCM-US 17 57089803 57089803 single base substitution T C missense_variant N827D 2479A>G SKCM-US 17 57089803 57089803 single base substitution T C missense_variant N861D 2581A>G SKCM-US 17 57089803 57089803 single base substitution T C upstream_gene_variant SKCM-US 17 57093067 57093067 single base substitution T C 3_prime_UTR_variant SKCM-US 17 57093067 57093067 single base substitution T C missense_variant D705G 2114A>G SKCM-US 17 57093067 57093067 single base substitution T C missense_variant D793G 2378A>G SKCM-US 17 57093067 57093067 single base substitution T C missense_variant D827G 2480A>G SKCM-US 17 57093067 57093067 single base substitution T C upstream_gene_variant SKCM-US 17 57094671 57094671 insertion of <=200bp - GACA 3_prime_UTR_variant SKCM-US 17 57094671 57094671 insertion of <=200bp - GACA frameshift_variant Q669HV? SKCM-US 17 57094671 57094671 insertion of <=200bp - GACA frameshift_variant Q757HV? SKCM-US 17 57094671 57094671 insertion of <=200bp - GACA frameshift_variant Q791HV? SKCM-US 17 57094671 57094671 insertion of <=200bp - GACA upstream_gene_variant SKCM-US 17 57094720 57094720 single base substitution G A 3_prime_UTR_variant SKCM-US 17 57094720 57094720 single base substitution G A stop_gained R653* 1957C>T SKCM-US 17 57094720 57094720 single base substitution G A stop_gained R741* 2221C>T SKCM-US 17 57094720 57094720 single base substitution G A stop_gained R775* 2323C>T SKCM-US 17 57094720 57094720 single base substitution G A upstream_gene_variant SKCM-US 17 57125123 57125123 single base substitution G A 3_prime_UTR_variant SKCM-US 17 57125123 57125123 single base substitution G A stop_gained Q408* 1222C>T SKCM-US 17 57125123 57125123 single base substitution G A stop_gained Q496* 1486C>T SKCM-US 17 57125123 57125123 single base substitution G A stop_gained Q530* 1588C>T SKCM-US 17 57126684 57126684 single base substitution G A 3_prime_UTR_variant SKCM-US 17 57126684 57126684 single base substitution G A missense_variant P340L 1019C>T SKCM-US 17 57126684 57126684 single base substitution G A missense_variant P428L 1283C>T SKCM-US 17 57126684 57126684 single base substitution G A missense_variant P462L 1385C>T SKCM-US 17 57128577 57128577 single base substitution C T missense_variant E316K 946G>A SKCM-US 17 57128577 57128577 single base substitution C T missense_variant E404K 1210G>A SKCM-US 17 57128577 57128577 single base substitution C T missense_variant E438K 1312G>A SKCM-US 17 57128577 57128577 single base substitution C T splice_region_variant SKCM-US 17 57134298 57134298 single base substitution G A 3_prime_UTR_variant SKCM-US 17 57134298 57134298 single base substitution G A downstream_gene_variant SKCM-US 17 57134298 57134298 single base substitution G A synonymous_variant F257F 771C>T SKCM-US 17 57134298 57134298 single base substitution G A synonymous_variant F345F 1035C>T SKCM-US 17 57134298 57134298 single base substitution G A synonymous_variant F379F 1137C>T SKCM-US 17 57134354 57134354 single base substitution G A 3_prime_UTR_variant SKCM-US 17 57134354 57134354 single base substitution G A downstream_gene_variant SKCM-US 17 57134354 57134354 single base substitution G A stop_gained R239* 715C>T SKCM-US 17 57134354 57134354 single base substitution G A stop_gained R327* 979C>T SKCM-US 17 57134354 57134354 single base substitution G A stop_gained R361* 1081C>T SKCM-US 17 57134361 57134361 single base substitution A T 3_prime_UTR_variant SKCM-US 17 57134361 57134361 single base substitution A T downstream_gene_variant SKCM-US 17 57134361 57134361 single base substitution A T missense_variant N236K 708T>A SKCM-US 17 57134361 57134361 single base substitution A T missense_variant N324K 972T>A SKCM-US 17 57134361 57134361 single base substitution A T missense_variant N358K 1074T>A SKCM-US 17 57148260 57148260 single base substitution G A 3_prime_UTR_variant SKCM-US 17 57148260 57148260 single base substitution G A downstream_gene_variant SKCM-US 17 57148260 57148260 single base substitution G A exon_variant SKCM-US 17 57148260 57148260 single base substitution G A missense_variant L119F 355C>T SKCM-US 17 57148260 57148260 single base substitution G A missense_variant L123F 367C>T SKCM-US 17 57148260 57148260 single base substitution G A missense_variant L211F 631C>T SKCM-US 17 57148260 57148260 single base substitution G A missense_variant L245F 733C>T SKCM-US 17 57158499 57158499 single base substitution G A 3_prime_UTR_variant SKCM-US 17 57158499 57158499 single base substitution G A intron_variant SKCM-US 17 57158499 57158499 single base substitution G A missense_variant R117C 349C>T SKCM-US 17 57158499 57158499 single base substitution G A missense_variant R151C 451C>T SKCM-US 17 57158499 57158499 single base substitution G A missense_variant R29C 85C>T SKCM-US 17 57158499 57158499 single base substitution G A missense_variant R9C 25C>T SKCM-US 17 57158499 57158499 single base substitution G A upstream_gene_variant SKCM-US 17 57181659 57181659 single base substitution T A 5_prime_UTR_variant SKCM-US 17 57181659 57181659 single base substitution T A exon_variant SKCM-US 17 57181659 57181659 single base substitution T A intron_variant SKCM-US 17 57181659 57181659 single base substitution T A missense_variant I40F 118A>T STAD-US 17 57057445 57057445 single base substitution G A downstream_gene_variant STAD-US 17 57057506 57057506 single base substitution G A downstream_gene_variant STAD-US 17 57057738 57057738 single base substitution C A downstream_gene_variant STAD-US 17 57058136 57058136 single base substitution G A downstream_gene_variant STAD-US 17 57058168 57058168 single base substitution A G downstream_gene_variant STAD-US 17 57058186 57058186 single base substitution T C downstream_gene_variant STAD-US 17 57058285 57058285 single base substitution C T downstream_gene_variant STAD-US 17 57093004 57093004 single base substitution G A 3_prime_UTR_variant STAD-US 17 57093004 57093004 single base substitution G A missense_variant A726V 2177C>T STAD-US 17 57093004 57093004 single base substitution G A missense_variant A814V 2441C>T STAD-US 17 57093004 57093004 single base substitution G A missense_variant A848V 2543C>T STAD-US 17 57093004 57093004 single base substitution G A upstream_gene_variant STAD-US 17 57093008 57093008 single base substitution G A 3_prime_UTR_variant STAD-US 17 57093008 57093008 single base substitution G A missense_variant P725S 2173C>T STAD-US 17 57093008 57093008 single base substitution G A missense_variant P813S 2437C>T STAD-US 17 57093008 57093008 single base substitution G A missense_variant P847S 2539C>T STAD-US 17 57093008 57093008 single base substitution G A upstream_gene_variant STAD-US 17 57109276 57109276 single base substitution A T 3_prime_UTR_variant STAD-US 17 57109276 57109276 single base substitution A T synonymous_variant A521A 1563T>A STAD-US 17 57109276 57109276 single base substitution A T synonymous_variant A609A 1827T>A STAD-US 17 57109276 57109276 single base substitution A T synonymous_variant A643A 1929T>A STAD-US 17 57109355 57109364 deletion of <=200bp AATGGATCAA - 3_prime_UTR_variant STAD-US 17 57109355 57109364 deletion of <=200bp AATGGATCAA - frameshift_variant IDPL492 STAD-US 17 57109355 57109364 deletion of <=200bp AATGGATCAA - frameshift_variant IDPL580 STAD-US 17 57109355 57109364 deletion of <=200bp AATGGATCAA - frameshift_variant IDPL614 STAD-US 17 57109385 57109385 single base substitution G C 3_prime_UTR_variant STAD-US 17 57109385 57109385 single base substitution G C missense_variant A485G 1454C>G STAD-US 17 57109385 57109385 single base substitution G C missense_variant A573G 1718C>G STAD-US 17 57109385 57109385 single base substitution G C missense_variant A607G 1820C>G STAD-US 17 57125059 57125059 single base substitution A G 3_prime_UTR_variant STAD-US 17 57125059 57125059 single base substitution A G missense_variant I429T 1286T>C STAD-US 17 57125059 57125059 single base substitution A G missense_variant I517T 1550T>C STAD-US 17 57125059 57125059 single base substitution A G missense_variant I551T 1652T>C STAD-US 17 57126583 57126583 single base substitution C A 3_prime_UTR_variant STAD-US 17 57126583 57126583 single base substitution C A stop_gained E374* 1120G>T STAD-US 17 57126583 57126583 single base substitution C A stop_gained E462* 1384G>T STAD-US 17 57126583 57126583 single base substitution C A stop_gained E496* 1486G>T STAD-US 17 57126657 57126657 single base substitution C T 3_prime_UTR_variant STAD-US 17 57126657 57126657 single base substitution C T missense_variant R349Q 1046G>A STAD-US 17 57126657 57126657 single base substitution C T missense_variant R437Q 1310G>A STAD-US 17 57126657 57126657 single base substitution C T missense_variant R471Q 1412G>A STAD-US 17 57126658 57126658 single base substitution G A 3_prime_UTR_variant STAD-US 17 57126658 57126658 single base substitution G A stop_gained R349* 1045C>T STAD-US 17 57126658 57126658 single base substitution G A stop_gained R437* 1309C>T STAD-US 17 57126658 57126658 single base substitution G A stop_gained R471* 1411C>T STAD-US 17 57134362 57134362 deletion of <=200bp T - 3_prime_UTR_variant STAD-US 17 57134362 57134362 deletion of <=200bp T - downstream_gene_variant STAD-US 17 57134362 57134362 deletion of <=200bp T - frameshift_variant N236 STAD-US 17 57134362 57134362 deletion of <=200bp T - frameshift_variant N324 STAD-US 17 57134362 57134362 deletion of <=200bp T - frameshift_variant N358 STAD-US 17 57134370 57134370 single base substitution A G 3_prime_UTR_variant STAD-US 17 57134370 57134370 single base substitution A G downstream_gene_variant STAD-US 17 57134370 57134370 single base substitution A G synonymous_variant P233P 699T>C STAD-US 17 57134370 57134370 single base substitution A G synonymous_variant P321P 963T>C STAD-US 17 57134370 57134370 single base substitution A G synonymous_variant P355P 1065T>C STAD-US 17 57157177 57157177 single base substitution G A 3_prime_UTR_variant STAD-US 17 57157177 57157177 single base substitution G A missense_variant A151V 452C>T STAD-US 17 57157177 57157177 single base substitution G A missense_variant A185V 554C>T STAD-US 17 57157177 57157177 single base substitution G A missense_variant A43V 128C>T STAD-US 17 57157177 57157177 single base substitution G A missense_variant A63V 188C>T STAD-US 17 57157177 57157177 single base substitution G A upstream_gene_variant STAD-US 17 57158518 57158518 single base substitution A G 3_prime_UTR_variant STAD-US 17 57158518 57158518 single base substitution A G intron_variant STAD-US 17 57158518 57158518 single base substitution A G synonymous_variant N110N 330T>C STAD-US 17 57158518 57158518 single base substitution A G synonymous_variant N144N 432T>C STAD-US 17 57158518 57158518 single base substitution A G synonymous_variant N22N 66T>C STAD-US 17 57158518 57158518 single base substitution A G synonymous_variant N2N 6T>C STAD-US 17 57158518 57158518 single base substitution A G upstream_gene_variant STAD-US 17 57165734 57165734 single base substitution G A 3_prime_UTR_variant STAD-US 17 57165734 57165734 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant STAD-US 17 57165734 57165734 single base substitution G A exon_variant STAD-US 17 57165734 57165734 single base substitution G A intron_variant STAD-US 17 57165734 57165734 single base substitution G A missense_variant R33C 97C>T STAD-US 17 57165734 57165734 single base substitution G A missense_variant R67C 199C>T STAD-US 17 57168701 57168701 single base substitution G A missense_variant R42C 124C>T STAD-US 17 57168701 57168701 single base substitution G A missense_variant R8C 22C>T STAD-US 17 57168701 57168701 single base substitution G A splice_region_variant STAD-US 17 57181748 57181748 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant STAD-US 17 57181748 57181748 single base substitution G A exon_variant STAD-US 17 57181748 57181748 single base substitution G A intron_variant STAD-US 17 57181748 57181748 single base substitution G A missense_variant A10V 29C>T THCA-SA 17 57059069 57059069 single base substitution A G downstream_gene_variant THCA-SA 17 57059257 57059257 single base substitution A G downstream_gene_variant THCA-SA 17 57128625 57128625 single base substitution A G 3_prime_UTR_variant THCA-SA 17 57128625 57128625 single base substitution A G synonymous_variant L300L 898T>C THCA-SA 17 57128625 57128625 single base substitution A G synonymous_variant L388L 1162T>C THCA-SA 17 57128625 57128625 single base substitution A G synonymous_variant L422L 1264T>C THCA-SA 17 57184046 57184046 single base substitution T C 5_prime_UTR_premature_start_codon_gain_variant THCA-SA 17 57184046 57184046 single base substitution T C exon_variant THCA-SA 17 57184046 57184046 single base substitution T C upstream_gene_variant UCEC-US 17 57057337 57057337 single base substitution G A downstream_gene_variant UCEC-US 17 57057431 57057431 single base substitution G A downstream_gene_variant UCEC-US 17 57057758 57057758 single base substitution G A downstream_gene_variant UCEC-US 17 57057779 57057779 single base substitution G T downstream_gene_variant UCEC-US 17 57057860 57057860 single base substitution A C downstream_gene_variant UCEC-US 17 57057918 57057918 single base substitution G T downstream_gene_variant UCEC-US 17 57057922 57057922 single base substitution G A downstream_gene_variant UCEC-US 17 57058137 57058137 single base substitution C T downstream_gene_variant UCEC-US 17 57058280 57058280 single base substitution C A downstream_gene_variant UCEC-US 17 57079065 57079065 single base substitution G A intron_variant UCEC-US 17 57079065 57079065 single base substitution G A synonymous_variant S55S 165C>T UCEC-US 17 57079065 57079065 single base substitution G A synonymous_variant S868S 2604C>T UCEC-US 17 57079065 57079065 single base substitution G A synonymous_variant S902S 2706C>T UCEC-US 17 57094714 57094714 single base substitution C A 3_prime_UTR_variant UCEC-US 17 57094714 57094714 single base substitution C A missense_variant A655S 1963G>T UCEC-US 17 57094714 57094714 single base substitution C A missense_variant A743S 2227G>T UCEC-US 17 57094714 57094714 single base substitution C A missense_variant A777S 2329G>T UCEC-US 17 57094714 57094714 single base substitution C A upstream_gene_variant UCEC-US 17 57094720 57094720 single base substitution G A 3_prime_UTR_variant UCEC-US 17 57094720 57094720 single base substitution G A stop_gained R653* 1957C>T UCEC-US 17 57094720 57094720 single base substitution G A stop_gained R741* 2221C>T UCEC-US 17 57094720 57094720 single base substitution G A stop_gained R775* 2323C>T UCEC-US 17 57094720 57094720 single base substitution G A upstream_gene_variant UCEC-US 17 57105821 57105821 single base substitution C A 3_prime_UTR_variant UCEC-US 17 57105821 57105821 single base substitution C A stop_gained E616* 1846G>T UCEC-US 17 57105821 57105821 single base substitution C A stop_gained E704* 2110G>T UCEC-US 17 57105821 57105821 single base substitution C A stop_gained E738* 2212G>T UCEC-US 17 57105976 57105976 single base substitution C T 3_prime_UTR_variant UCEC-US 17 57105976 57105976 single base substitution C T missense_variant R564Q 1691G>A UCEC-US 17 57105976 57105976 single base substitution C T missense_variant R652Q 1955G>A UCEC-US 17 57105976 57105976 single base substitution C T missense_variant R686Q 2057G>A UCEC-US 17 57109305 57109305 single base substitution A C 3_prime_UTR_variant UCEC-US 17 57109305 57109305 single base substitution A C missense_variant L512V 1534T>G UCEC-US 17 57109305 57109305 single base substitution A C missense_variant L600V 1798T>G UCEC-US 17 57109305 57109305 single base substitution A C missense_variant L634V 1900T>G UCEC-US 17 57109404 57109404 single base substitution T C 3_prime_UTR_variant UCEC-US 17 57109404 57109404 single base substitution T C missense_variant T479A 1435A>G UCEC-US 17 57109404 57109404 single base substitution T C missense_variant T567A 1699A>G UCEC-US 17 57109404 57109404 single base substitution T C missense_variant T601A 1801A>G UCEC-US 17 57109445 57109445 single base substitution C T 3_prime_UTR_variant UCEC-US 17 57109445 57109445 single base substitution C T missense_variant S465N 1394G>A UCEC-US 17 57109445 57109445 single base substitution C T missense_variant S553N 1658G>A UCEC-US 17 57109445 57109445 single base substitution C T missense_variant S587N 1760G>A UCEC-US 17 57119252 57119252 single base substitution C A 3_prime_UTR_variant UCEC-US 17 57119252 57119252 single base substitution C A stop_gained E437* 1309G>T UCEC-US 17 57119252 57119252 single base substitution C A stop_gained E525* 1573G>T UCEC-US 17 57119252 57119252 single base substitution C A stop_gained E559* 1675G>T UCEC-US 17 57126579 57126579 single base substitution T C 3_prime_UTR_variant UCEC-US 17 57126579 57126579 single base substitution T C missense_variant D375G 1124A>G UCEC-US 17 57126579 57126579 single base substitution T C missense_variant D463G 1388A>G UCEC-US 17 57126579 57126579 single base substitution T C missense_variant D497G 1490A>G UCEC-US 17 57126585 57126585 single base substitution T G 3_prime_UTR_variant UCEC-US 17 57126585 57126585 single base substitution T G missense_variant K373T 1118A>C UCEC-US 17 57126585 57126585 single base substitution T G missense_variant K461T 1382A>C UCEC-US 17 57126585 57126585 single base substitution T G missense_variant K495T 1484A>C UCEC-US 17 57126732 57126732 single base substitution C T 3_prime_UTR_variant UCEC-US 17 57126732 57126732 single base substitution C T missense_variant R324Q 971G>A UCEC-US 17 57126732 57126732 single base substitution C T missense_variant R412Q 1235G>A UCEC-US 17 57126732 57126732 single base substitution C T missense_variant R446Q 1337G>A UCEC-US 17 57134351 57134351 single base substitution C A 3_prime_UTR_variant UCEC-US 17 57134351 57134351 single base substitution C A downstream_gene_variant UCEC-US 17 57134351 57134351 single base substitution C A stop_gained E240* 718G>T UCEC-US 17 57134351 57134351 single base substitution C A stop_gained E328* 982G>T UCEC-US 17 57134351 57134351 single base substitution C A stop_gained E362* 1084G>T UCEC-US 17 57148209 57148209 single base substitution T C 3_prime_UTR_variant UCEC-US 17 57148209 57148209 single base substitution T C downstream_gene_variant UCEC-US 17 57148209 57148209 single base substitution T C exon_variant UCEC-US 17 57148209 57148209 single base substitution T C missense_variant T136A 406A>G UCEC-US 17 57148209 57148209 single base substitution T C missense_variant T140A 418A>G UCEC-US 17 57148209 57148209 single base substitution T C missense_variant T228A 682A>G UCEC-US 17 57148209 57148209 single base substitution T C missense_variant T262A 784A>G UCEC-US 17 57161421 57161421 single base substitution A G 3_prime_UTR_variant UCEC-US 17 57161421 57161421 single base substitution A G 5_prime_UTR_variant UCEC-US 17 57161421 57161421 single base substitution A G downstream_gene_variant UCEC-US 17 57161421 57161421 single base substitution A G intron_variant UCEC-US 17 57161421 57161421 single base substitution A G missense_variant V104A 311T>C UCEC-US 17 57161421 57161421 single base substitution A G missense_variant V70A 209T>C UCEC-US 17 57161421 57161421 single base substitution A G upstream_gene_variant UCEC-US 17 57181717 57181717 single base substitution C A 5_prime_UTR_variant UCEC-US 17 57181717 57181717 single base substitution C A exon_variant UCEC-US 17 57181717 57181717 single base substitution C A intron_variant UCEC-US 17 57181717 57181717 single base substitution C A missense_variant E20D 60G>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand PD10053a COSM3718977 c.913G>C p.G305R Substitution - Missense 17:59062596-59062596 - DLBCL689 COSM1581859 c.1730A>G p.D577G Substitution - Missense 17:59041836-59041836 - TCGA-CA-6717-01 COSM1384881 c.799G>A p.D267N Substitution - Missense 17:59070833-59070833 - TCGA-56-5898-01 COSM706646 c.1428A>G p.A476A Substitution - coding silent 17:59049280-59049280 - Pat_74_B COSM5853116 c.635C>G p.T212S Substitution - Missense 17:59075696-59075696 - LB2518-MEL COSM24043 c.2685C>T p.A895A Substitution - coding silent 17:59012338-59012338 - 587222 COSM982018 c.1337G>A p.R446Q Substitution - Missense 17:59049371-59049371 - TCGA-EE-A29D-06 COSM3520247 c.1312G>A p.E438K Substitution - Missense 17:59051216-59051216 - HCC2998 COSM1679965 c.2228C>A p.S743* Substitution - Nonsense 17:59028444-59028444 - TCGA-DA-A1I5-06 COSM3520245 c.1588C>T p.Q530* Substitution - Nonsense 17:59047762-59047762 - TCGA-AP-A0LM-01 COSM982009 c.2212G>T p.E738* Substitution - Nonsense 17:59028460-59028460 - ESCC-F90 COSM5049012 c.2483G>A p.R828Q Substitution - Missense 17:59015703-59015703 - TCGA-22-1011-01 COSM706649 c.2439G>C p.L813F Substitution - Missense 17:59015747-59015747 - TCGA-EB-A3Y7-01 COSM3520248 c.1137C>T p.F379F Substitution - coding silent 17:59056937-59056937 - TCGA-IA-A40X-01 COSM3989194 c.1028A>G p.Y343C Substitution - Missense 17:59057046-59057046 - LUAD-B00416 COSM331015 c.1642G>A p.E548K Substitution - Missense 17:59047708-59047708 - TCGA-CG-5723-01 COSM4068250 c.554C>T p.A185V Substitution - Missense 17:59079816-59079816 - DLBCL891 COSM1581858 c.1748C>A p.P583H Substitution - Missense 17:59041818-59041818 - PA285 COSM1163166 c.341G>A p.C114Y Substitution - Missense 17:59084030-59084030 - TCGA-CD-A4MJ-01 COSM4068252 c.199C>T p.R67C Substitution - Missense 17:59088373-59088373 - 8033691 COSM3388055 c.984T>C p.F328F Substitution - coding silent 17:59061067-59061067 - ESO-708 COSM1268535 c.2891G>A p.R964K Substitution - Missense 17:58999381-58999381 - TCGA-B5-A0JY-01 COSM982014 c.1760G>A p.S587N Substitution - Missense 17:59032084-59032084 - S02287 COSM5685629 c.2294G>T p.R765L Substitution - Missense 17:59017388-59017388 - TCGA-AP-A051-01 COSM982007 c.2329G>T p.A777S Substitution - Missense 17:59017353-59017353 - CSCC-57-T COSM4538217 c.2518G>A p.V840I Substitution - Missense 17:59015668-59015668 - C125 COSM4616770 c.1554G>C p.L518L Substitution - coding silent 17:59047796-59047796 - 2497779 COSM982018 c.1337G>A p.R446Q Substitution - Missense 17:59049371-59049371 - 8067182 COSM3772986 c.1661A>G p.E554G Substitution - Missense 17:59047689-59047689 - TCGA-EE-A2GJ-06 COSM3520244 c.2480A>G p.D827G Substitution - Missense 17:59015706-59015706 - DLBCL777 COSM1581860 c.1146C>G p.D382E Substitution - Missense 17:59056928-59056928 - LUAD-S01341 COSM405071 c.303delA p.K101fs*43 Deletion - Frameshift 17:59084068-59084068 - TCGA-B5-A11E-01 COSM982008 c.2323C>T p.R775* Substitution - Nonsense 17:59017359-59017359 - TCGA-AD-5900-01 COSM1384873 c.2804delC p.P935fs*15 Deletion - Frameshift 17:59001606-59001606 - TCGA-AA-A010-01 COSM285942 c.616G>T p.G206C Substitution - Missense 17:59079754-59079754 - 587376 COSM1230328 c.282-1G>T p.? Unknown 17:59084090-59084090 - TCGA-EE-A2MR-06 COSM3520250 c.451C>T p.R151C Substitution - Missense 17:59081138-59081138 - TCGA-AS-3777-01 COSM1494021 c.1648G>T p.D550Y Substitution - Missense 17:59047702-59047702 - HCC2998 COSM1679966 c.2067A>C p.K689N Substitution - Missense 17:59028605-59028605 - TCGA-D1-A0ZQ-01 COSM982013 c.1763A>C p.H588P Substitution - Missense 17:59032081-59032081 - HCC2998 COSM1679965 c.2228C>A p.S743* Substitution - Nonsense 17:59028444-59028444 - TCGA-EB-A4OY-01 COSM3520249 c.1074T>A p.N358K Substitution - Missense 17:59057000-59057000 - DLBCL817 COSM1581857 c.2482C>T p.R828W Substitution - Missense 17:59015704-59015704 - Pat_74_A COSM5853116 c.635C>G p.T212S Substitution - Missense 17:59075696-59075696 - 587336 COSM1230327 c.1702G>A p.E568K Substitution - Missense 17:59041864-59041864 - A1 COSM3728987 c.810-3delT p.? Unknown 17:59064408-59064408 - CHC1715T COSM4789502 c.599A>T p.K200M Substitution - Missense 17:59079771-59079771 - HN_63115 COSM122123 c.222A>G p.Q74Q Substitution - coding silent 17:59088350-59088350 - TCGA-AA-3715-01 COSM270393 c.1683T>C p.D561D Substitution - coding silent 17:59041883-59041883 - YUTEPA COSM1710562 c.2048C>T p.A683V Substitution - Missense 17:59028624-59028624 - TCGA-BT-A20J-01 COSM417423 c.2671G>T p.G891* Substitution - Nonsense 17:59012352-59012352 - TCGA-BS-A0UF-01 COSM982010 c.2057G>A p.R686Q Substitution - Missense 17:59028615-59028615 - 169 COSM3728712 c.348G>A p.Q116Q Substitution - coding silent 17:59084023-59084023 - TCGA-AD-6895-01 COSM1384877 c.1759A>T p.S587C Substitution - Missense 17:59032085-59032085 - TCGA-BR-8361-01 COSM4068254 c.29C>T p.A10V Substitution - Missense 17:59104387-59104387 - TCGA-DM-A285-01 COSM1384886 c.174C>G p.L58L Substitution - coding silent 17:59088398-59088398 - TCGA-C4-A0F1-01 COSM417422 c.787C>T p.P263S Substitution - Missense 17:59070845-59070845 - SNUH_G15_S1 COSM3680516 c.2574G>T p.L858F Substitution - Missense 17:59015612-59015612 - CSCC-7-T COSM4532052 c.184G>A p.E62K Substitution - Missense 17:59088388-59088388 - CRC-18T COSM5460628 c.757C>T p.R253W Substitution - Missense 17:59070875-59070875 - 112319 COSM95406 c.107G>T p.C36F Substitution - Missense 17:59104309-59104309 - TCGA-AA-3663-01 COSM1384872 c.2850C>T p.G950G Substitution - coding silent 17:58999422-58999422 - TCGA-BH-A0DZ-01 COSM437027 c.904C>G p.Q302E Substitution - Missense 17:59062605-59062605 - TCGA-18-3406-01 COSM706647 c.1796G>C p.R599T Substitution - Missense 17:59032048-59032048 - T3724 COSM4736073 c.1668-2A>T p.? Unknown 17:59041900-59041900 - C547 COSM191762 c.1999C>T p.R667* Substitution - Nonsense 17:59028673-59028673 - ESO-838 COSM1268536 c.1925C>T p.P642L Substitution - Missense 17:59031919-59031919 - 3N59-VS-3T59 COSM4984194 c.102G>A p.L34L Substitution - coding silent 17:59104314-59104314 - NCI-H2126 COSM24041 c.1490A>T p.D497V Substitution - Missense 17:59049218-59049218 - TCGA-AN-A046-01 COSM982008 c.2323C>T p.R775* Substitution - Nonsense 17:59017359-59017359 - TCGA-BP-4799-01 COSM3362253 c.36T>C p.V12V Substitution - coding silent 17:59104380-59104380 - 0014_CRUK_PC_0014_T1_DNA COSM5422902 c.1199+7G>C p.? Unknown 17:59056868-59056868 - TCGA-24-1425-01 COSM76816 c.1210C>G p.R404G Substitution - Missense 17:59051318-59051318 - sysucc-880T COSM5462670 c.1956T>A p.Y652* Substitution - Nonsense 17:59028716-59028716 - T3262 COSM4736070 c.2776G>A p.D926N Substitution - Missense 17:59001634-59001634 - DLBCL827 COSM1581861 c.1081C>T p.R361* Substitution - Nonsense 17:59056993-59056993 - TCGA-G4-6310-01 COSM1384875 c.2689G>A p.E897K Substitution - Missense 17:59012334-59012334 - TCGA-HU-A4GQ-01 COSM4068247 c.1412G>A p.R471Q Substitution - Missense 17:59049296-59049296 - TCGA-A6-5665-01 COSM1384885 c.191T>C p.V64A Substitution - Missense 17:59088381-59088381 - TCGA-BS-A0UV-01 COSM982020 c.784A>G p.T262A Substitution - Missense 17:59070848-59070848 - SCMC_RM2_ COSM4989324 c.2623T>G p.L875V Substitution - Missense 17:59012400-59012400 - CHC1715T COSM4789502 c.599A>T p.K200M Substitution - Missense 17:59079771-59079771 - HCC78T COSM1610549 c.148C>T p.Q50* Substitution - Nonsense 17:59091316-59091316 - 113371 COSM95405 c.344A>G p.H115R Substitution - Missense 17:59084027-59084027 - SNU-C4 COSM4652884 c.610C>T p.L204L Substitution - coding silent 17:59079760-59079760 - PD24205a COSM5796653 c.124-1G>A p.? Unknown 17:59091341-59091341 - Pa28C COSM84407 c.874A>T p.R292* Substitution - Nonsense 17:59062635-59062635 - TCGA-BR-6452-01 COSM4068245 c.1652T>C p.I551T Substitution - Missense 17:59047698-59047698 - TCGA-C5-A1MK-01 COSM4826840 c.883C>A p.P295T Substitution - Missense 17:59062626-59062626 - Pat_16_B COSM5853115 c.1753+1G>A p.? Unknown 17:59041812-59041812 - TCGA-GN-A266-06 COSM1581861 c.1081C>T p.R361* Substitution - Nonsense 17:59056993-59056993 - TCGA-CA-6718-01 COSM1384883 c.515G>T p.R172I Substitution - Missense 17:59079855-59079855 - TCGA-HP-A5N0-01 COSM4942131 c.2500G>T p.D834Y Substitution - Missense 17:59015686-59015686 - TCGA-33-4566-01 COSM706648 c.2263A>G p.N755D Substitution - Missense 17:59017419-59017419 - TCGA-D1-A17Q-01 COSM982018 c.1337G>A p.R446Q Substitution - Missense 17:59049371-59049371 - TCGA-AX-A06H-01 COSM982012 c.1801A>G p.T601A Substitution - Missense 17:59032043-59032043 - TCGA-C8-A1HM-01 COSM437026 c.1433C>G p.S478C Substitution - Missense 17:59049275-59049275 - TCGA-B5-A0JY-01 COSM982006 c.2706C>T p.S902S Substitution - coding silent 17:59001704-59001704 - TCGA-B5-A0JY-01 COSM982019 c.1084G>T p.E362* Substitution - Nonsense 17:59056990-59056990 - TCGA-A6-2676-01 COSM291188 c.2387G>A p.G796D Substitution - Missense 17:59015799-59015799 - TCGA-AP-A0LM-01 COSM982011 c.1900T>G p.L634V Substitution - Missense 17:59031944-59031944 - TCGA-BT-A2LB-01 COSM3795870 c.118A>G p.I40V Substitution - Missense 17:59104298-59104298 - PD6722a COSM5778776 c.1342C>G p.Q448E Substitution - Missense 17:59049366-59049366 - S02285 COSM5684622 c.824C>G p.S275C Substitution - Missense 17:59064391-59064391 - TCGA-AP-A0LM-01 COSM982016 c.1490A>G p.D497G Substitution - Missense 17:59049218-59049218 - TCGA-B7-5816-01 COSM4068251 c.432T>C p.N144N Substitution - coding silent 17:59081157-59081157 - TCGA-BR-4256-01 COSM191755 c.2543C>T p.A848V Substitution - Missense 17:59015643-59015643 - CSCC-31-T COSM4568840 c.1356T>A p.D452E Substitution - Missense 17:59049352-59049352 - PT08_2 COSM5895231 c.2144_2145insT p.A716fs*2 Insertion - Frameshift 17:59028527-59028528 - 587220 COSM1230326 c.2684C>T p.A895V Substitution - Missense 17:59012339-59012339 - Gp2D COSM3196134 c.2618C>T p.T873I Substitution - Missense 17:59012405-59012405 - TCGA-CZ-5455-01 COSM3362252 c.2790C>T p.V930V Substitution - coding silent 17:59001620-59001620 - S00501 COSM3728987 c.810-3delT p.? Unknown 17:59064408-59064408 - TCGA-B7-5816-01 COSM4068246 c.1486G>T p.E496* Substitution - Nonsense 17:59049222-59049222 - TCGA-AP-A059-01 COSM982015 c.1675G>T p.E559* Substitution - Nonsense 17:59041891-59041891 - TCGA-CJ-4907-01 COSM473123 c.2174G>A p.G725E Substitution - Missense 17:59028498-59028498 - C0046T COSM4151692 c.408T>G p.Y136* Substitution - Nonsense 17:59081181-59081181 - TCGA-C5-A2LS-01 COSM4856237 c.2007C>A p.P669P Substitution - coding silent 17:59028665-59028665 - LUAD-CHTN-MAD06-00668 COSM359114 c.465_466GG>TT p.M155>? Complex 17:59081123-59081124 - TCGA-EB-A3XC-01 COSM3520246 c.1385C>T p.P462L Substitution - Missense 17:59049323-59049323 - TCGA-EE-A2M5-06 COSM3520251 c.118A>T p.I40F Substitution - Missense 17:59104298-59104298 - TCGA-JL-A3YX-01 COSM1384886 c.174C>G p.L58L Substitution - coding silent 17:59088398-59088398 - KPOPBR-03-T COSM5964873 c.232A>G p.T78A Substitution - Missense 17:59088340-59088340 - TCGA-CG-4304-01 COSM4068243 c.1929T>A p.A643A Substitution - coding silent 17:59031915-59031915 - 951_T COSM3958597 c.2068A>T p.T690S Substitution - Missense 17:59028604-59028604 - LUAD-NYU284 COSM372871 c.1795A>T p.R599* Substitution - Nonsense 17:59032049-59032049 - HCT8 COSM982014 c.1760G>A p.S587N Substitution - Missense 17:59032084-59032084 - ESCC-015T COSM3937483 c.1524T>C p.D508D Substitution - coding silent 17:59049184-59049184 - TCGA-HU-A4H4-01 COSM4068253 c.124C>T p.R42C Substitution - Missense 17:59091340-59091340 - SC_9047 COSM5559862 c.2316A>T p.L772L Substitution - coding silent 17:59017366-59017366 - CRC-02T COSM5454582 c.1271C>A p.A424D Substitution - Missense 17:59051257-59051257 - TCGA-BS-A0UV-01 COSM982021 c.311T>C p.V104A Substitution - Missense 17:59084060-59084060 - HCT15 COSM982014 c.1760G>A p.S587N Substitution - Missense 17:59032084-59032084 - Pat_63_A COSM5853118 c.163C>T p.R55C Substitution - Missense 17:59091301-59091301 - HCC78 COSM1610549 c.148C>T p.Q50* Substitution - Nonsense 17:59091316-59091316 - PT33 COSM5909642 c.617-3C>T p.? Unknown 17:59075717-59075717 - I2L-P7-Tumor-Organoid COSM5363885 c.2387-5delT p.? Unknown 17:59015804-59015804 - ESCC_118 COSM5640210 c.1469C>T p.S490F Substitution - Missense 17:59049239-59049239 - TCGA-AA-A00N-01 COSM277804 c.640G>T p.E214* Substitution - Nonsense 17:59075691-59075691 - 169 COSM3728987 c.810-3delT p.? Unknown 17:59064408-59064408 - TCGA-FW-A3R5-06 COSM3890074 c.733C>T p.L245F Substitution - Missense 17:59070899-59070899 - TCGA-BR-4368-01 COSM4068249 c.1065T>C p.P355P Substitution - coding silent 17:59057009-59057009 - Au3 COSM5602471 c.1593C>T p.L531L Substitution - coding silent 17:59047757-59047757 - U87 COSM3196174 c.431A>G p.N144S Substitution - Missense 17:59081158-59081158 - TCGA-EE-A3JD-06 COSM982008 c.2323C>T p.R775* Substitution - Nonsense 17:59017359-59017359 - TCGA-EE-A29M-06 COSM3520243 c.2581A>G p.N861D Substitution - Missense 17:59012442-59012442 - LUAD-D01278 COSM362899 c.2790C>G p.V930V Substitution - coding silent 17:59001620-59001620 - T2269 COSM3196184 c.77G>A p.R26H Substitution - Missense 17:59104339-59104339 - OSCC-GB_00020111 COSM3712545 c.1657G>T p.E553* Substitution - Nonsense 17:59047693-59047693 - TCGA-BR-8487-01 COSM4068242 c.2539C>T p.P847S Substitution - Missense 17:59015647-59015647 - TCGA-CM-5861-01 COSM1384876 c.2068A>G p.T690A Substitution - Missense 17:59028604-59028604 - Pat_24_B COSM5853117 c.526G>A p.D176N Substitution - Missense 17:59079844-59079844 - TCGA-B5-A0K2-01 COSM982005 c.2784C>T p.F928F Substitution - coding silent 17:59001626-59001626 - ORL-48 COSM4596445 c.1730A>T p.D577V Substitution - Missense 17:59041836-59041836 - TCGA-AM-5820-01 COSM3691713 c.1264T>C p.L422L Substitution - coding silent 17:59051264-59051264 - TCGA-DD-A3A8-01 COSM4934996 c.979G>T p.V327L Substitution - Missense 17:59061072-59061072 - SC_9103 COSM5563797 c.1939C>T p.Q647* Substitution - Nonsense 17:59031905-59031905 - TCGA-B0-5701-01 COSM473122 c.2714A>C p.D905A Substitution - Missense 17:59001696-59001696 - CHC796T COSM4954166 c.2409T>A p.S803S Substitution - coding silent 17:59015777-59015777 - T2269 COSM4736072 c.2056C>T p.R686* Substitution - Nonsense 17:59028616-59028616 - PD9604a COSM5792633 c.979G>A p.V327M Substitution - Missense 17:59061072-59061072 - ESCC-D7 COSM5046433 c.1096G>A p.D366N Substitution - Missense 17:59056978-59056978 - 2T COSM3712545 c.1657G>T p.E553* Substitution - Nonsense 17:59047693-59047693 - Gp5D COSM3196134 c.2618C>T p.T873I Substitution - Missense 17:59012405-59012405 - PDA_013 COSM3728987 c.810-3delT p.? Unknown 17:59064408-59064408 - 18D COSM1235259 c.1031G>A p.R344H Substitution - Missense 17:59057043-59057043 - HCC2998 COSM1679966 c.2067A>C p.K689N Substitution - Missense 17:59028605-59028605 - TCGA-AA-3663-01 COSM1384880 c.1210C>T p.R404C Substitution - Missense 17:59051318-59051318 - XHDG40 COSM4770105 c.162C>A p.C54* Substitution - Nonsense 17:59091302-59091302 - PD4962a COSM5796396 c.1722C>G p.L574L Substitution - coding silent 17:59041844-59041844 - YULONE COSM5386917 c.2218C>T p.L740L Substitution - coding silent 17:59028454-59028454 - TCGA-B8-4153-01 COSM473124 c.1919G>A p.R640H Substitution - Missense 17:59031925-59031925 - PT35 COSM5913956 c.2387-8T>G p.? Unknown 17:59015807-59015807 - TCGA-AM-5821-01 COSM3755730 c.398C>T p.A133V Substitution - Missense 17:59081191-59081191 - TCGA-60-2698-01 COSM706643 c.88C>A p.H30N Substitution - Missense 17:59104328-59104328 - TCGA-Q1-A6DT-01 COSM4850672 c.1199+1G>A p.? Unknown 17:59056874-59056874 - 107529 COSM95680 c.2293C>T p.R765* Substitution - Nonsense 17:59017389-59017389 - DLD1 COSM982014 c.1760G>A p.S587N Substitution - Missense 17:59032084-59032084 - TCGA-66-2742-01 COSM706644 c.418G>T p.V140F Substitution - Missense 17:59081171-59081171 - ESO-085 COSM1268534 c.2728A>G p.T910A Substitution - Missense 17:59001682-59001682 - TCGA-BR-8363-01 COSM4068248 c.1411C>T p.R471* Substitution - Nonsense 17:59049297-59049297 - TCGA-66-2759-01 COSM706645 c.1038G>C p.E346D Substitution - Missense 17:59057036-59057036 - TCGA-HU-A4GT-01 COSM4068244 c.1820C>G p.A607G Substitution - Missense 17:59032024-59032024 - PT08_1 COSM5895231 c.2144_2145insT p.A716fs*2 Insertion - Frameshift 17:59028527-59028528 - TCGA-D1-A17Q-01 COSM982022 c.60G>T p.E20D Substitution - Missense 17:59104356-59104356 - HCC92 COSM1610548 c.2568C>T p.V856V Substitution - coding silent 17:59015618-59015618 - TCGA-AP-A056-01 COSM982017 c.1484A>C p.K495T Substitution - Missense 17:59049224-59049224 - TCGA-HT-A5R9-01 COSM3970201 c.672G>T p.E224D Substitution - Missense 17:59075659-59075659 - HCC92T COSM1610548 c.2568C>T p.V856V Substitution - coding silent 17:59015618-59015618 - TCGA-DC-6682-01 COSM1563728 c.1555G>A p.D519N Substitution - Missense 17:59047795-59047795 - DLD1 COSM4623634 c.2451T>C p.S817S Substitution - coding silent 17:59015735-59015735 - RMS80_ COSM4988741 c.412C>G p.Q138E Substitution - Missense 17:59081177-59081177 - Pat_24_A COSM5853117 c.526G>A p.D176N Substitution - Missense 17:59079844-59079844 - T2932 COSM4736071 c.2688T>C p.P896P Substitution - coding silent 17:59012335-59012335 - TCGA-AP-A056-01 COSM982008 c.2323C>T p.R775* Substitution - Nonsense 17:59017359-59017359 - PA285 COSM1163165 c.2766C>T p.G922G Substitution - coding silent 17:59001644-59001644 - LUAD-CHTN-MAD04-00674 COSM357848 c.928T>C p.L310L Substitution - coding silent 17:59062581-59062581 - AOCS-108-1-7 COSM3983588 c.445A>C p.K149Q Substitution - Missense 17:59081144-59081144 - CHC796T COSM4954166 c.2409T>A p.S803S Substitution - coding silent 17:59015777-59015777 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.578975;Hs.578976;Hs.578978;Hs.578984;Hs.578985;Hs.578986;Hs.578992;Hs.578993;Hs.578994;Hs.578997;Hs.579002;Hs.579007;Hs.579009;Hs.579013;Hs.579030;Hs.579038;Hs.579045;Hs.579048;Hs.579052;Hs.579053;Hs.579055;Hs.579062;Hs.579069;Hs.579070;Hs.579071;Hs.579078;Hs.579079 17q23.2 605073

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer AC TT SpliceDonorBlockSubstitution . c.164+1_164+2delinsAA 17 57168659 CM A - Frameshift p.F408Sfs*26 c.1223delT 17 57128666 PRAD A G Synonymous p.N144N c.432T>C 17 57158518 STAD A G Synonymous p.P355P c.1065T>C 17 57134370 STAD A G Synonymous p.V12V c.36T>C 17 57181741 RCCC A T Nonsense p.R292* c.874A>T 17 57139996 PAAD A T Synonymous p.A643A c.1929T>A 17 57109276 STAD C A Missense p.A584S c.1750G>T 17 57119177 HNSC C A Missense p.V140F c.418G>T 17 57158532 LUSC C A Nonsense p.E496* c.1486G>T 17 57126583 STAD C A Nonsense p.G891* c.2671G>T 17 57089713 BLCA C G Missense p.E346D c.1038G>C 17 57134397 LUSC C G Missense p.L813F c.2439G>C 17 57093108 LUSC C G Missense p.R599T c.1796G>C 17 57109409 LUSC C T Missense p.E20K c.58G>A 17 57181719 CM C T Missense p.G374S c.1120G>A 17 57134315 CM C T Missense p.R153H c.458G>A 17 57158492 HNSC C T Missense p.R964K c.2891G>A 17 57076742 ESCA C T Synonymous p.R309R c.927G>A 17 57139943 CM G A Missense p.A848V c.2543C>T 17 57093004 STAD G A Missense p.H621Y c.1861C>T 17 57109344 COREAD G A Missense p.P263S c.787C>T 17 57148206 BLCA G A Missense p.P642L c.1925C>T 17 57109280 ESCA G A Missense p.S231F c.692C>T 17 57148301 CM G A Missense p.S605F c.1814C>T 17 57109391 CM G A Nonsense p.Q402* c.1204C>T 17 57128685 LUAD G A Nonsense p.Q530* c.1588C>T 17 57125123 CM G A Nonsense p.R361* c.1081C>T 17 57134354 CM G A Nonsense p.R775* c.2323C>T 17 57094720 CM G A Synonymous p.L520L c.1558C>T 17 57125153 HNSC G A Synonymous p.V930V c.2790C>T 17 57078981 RCCC G C Missense p.R404G c.1210C>G 17 57128679 OV GG AA Missense p.R380C c.1137_1138delinsTT 17 57134297 CM G T Nonsense p.C477* c.1431C>A 17 57126638 BRCA T A Missense p.I40F c.118A>T 17 57181659 CM T C Missense p.D827G c.2480A>G 17 57093067 CM T C Missense p.I40V c.118A>G 17 57181659 BLCA T C Missense p.M19V c.55A>G 17 57181722 HNSC T C Missense p.N506S c.1517A>G 17 57126552 LUAD T C Missense p.N861D c.2581A>G 17 57089803 CM T C Missense p.T601A c.1801A>G 17 57109404 UCEC T C Missense p.T910A c.2728A>G 17 57079043 ESCA T C Synonymous p.A476A c.1428A>G 17 57126641 LUSC T C Synonymous p.Q74Q c.222A>G 17 57165711 HNSC T G Missense p.D905A c.2714A>C 17 57079057 RCCC