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 14 35231352 35231352 + Missense_Mutation SNP C C T TCGA-OR-A5J5-01A-11D-A29I-10 TCGA-OR-A5J5-10A-01D-A29L-10 g.chr14:35231352C>T c.3854G>A c.(3853-3855)cGt>cAt p.R1285H BLCA 14 35227931 35227931 + Missense_Mutation SNP C C G TCGA-GC-A3YS-01A-11D-A23M-08 TCGA-GC-A3YS-10A-01D-A23K-08 g.chr14:35227931C>G c.4365G>C c.(4363-4365)ttG>ttC p.L1455F BLCA 14 35227931 35227931 + Silent SNP C C T TCGA-GU-A764-01A-11D-A34U-08 TCGA-GU-A764-10B-01D-A34X-08 g.chr14:35227931C>T c.4365G>A c.(4363-4365)ttG>ttA p.L1455L BLCA 14 35227966 35227966 + Missense_Mutation SNP C C G TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 g.chr14:35227966C>G c.4330G>C c.(4330-4332)Gaa>Caa p.E1444Q BLCA 14 35228028 35228028 + Missense_Mutation SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 g.chr14:35228028C>T c.4268G>A c.(4267-4269)cGa>cAa p.R1423Q BLCA 14 35230989 35230989 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 g.chr14:35230989C>G c.4217G>C c.(4216-4218)aGa>aCa p.R1406T BLCA 14 35234010 35234010 + Missense_Mutation SNP C C A TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 g.chr14:35234010C>A c.3679G>T c.(3679-3681)Gat>Tat p.D1227Y BLCA 14 35234031 35234031 + Missense_Mutation SNP C C G TCGA-DK-A3WX-01A-22D-A22Z-08 TCGA-DK-A3WX-10A-01D-A22Z-08 g.chr14:35234031C>G c.3658G>C c.(3658-3660)Gac>Cac p.D1220H BLCA 14 35240754 35240755 + Frame_Shift_Del DEL CT CT - TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 g.chr14:35240754_35240755delCT c.3263_3264delAG c.(3262-3264)gagfs p.E1088fs BLCA 14 35243628 35243628 + Nonsense_Mutation SNP G G A TCGA-ZF-A9RC-01A-11D-A38G-08 TCGA-ZF-A9RC-10A-01D-A38J-08 g.chr14:35243628G>A c.2902C>T c.(2902-2904)Cag>Tag p.Q968* BLCA 14 35245311 35245311 + Missense_Mutation SNP G G A TCGA-E7-A541-01A-11D-A26M-08 TCGA-E7-A541-10A-01D-A26K-08 g.chr14:35245311G>A c.2647C>T c.(2647-2649)Cca>Tca p.P883S BLCA 14 35253090 35253090 + Silent SNP C C T TCGA-YF-AA3L-01A-11D-A38G-08 TCGA-YF-AA3L-10A-01D-A38J-08 g.chr14:35253090C>T c.1875G>A c.(1873-1875)ctG>ctA p.L625L BLCA 14 35276671 35276671 + Missense_Mutation SNP C C T TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 g.chr14:35276671C>T c.712G>A c.(712-714)Gtc>Atc p.V238I BLCA 14 35331267 35331267 + Silent SNP A A T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 g.chr14:35331267A>T c.375T>A c.(373-375)atT>atA p.I125I BRCA 14 35231037 35231037 + Missense_Mutation SNP G G A TCGA-BH-A0B4-01A-11W-A019-09 TCGA-BH-A0B4-10A-01W-A021-09 g.chr14:35231037G>A c.4169C>T c.(4168-4170)tCt>tTt p.S1390F BRCA 14 35240774 35240774 + Missense_Mutation SNP T T C TCGA-A8-A076-01A-21W-A019-09 TCGA-A8-A076-10A-01W-A021-09 g.chr14:35240774T>C c.3244A>G c.(3244-3246)Atg>Gtg p.M1082V BRCA 14 35240799 35240799 + Silent SNP C C T TCGA-AC-A3EH-01A-22D-A228-09 TCGA-AC-A3EH-11B-21D-A22A-09 g.chr14:35240799C>T c.3219G>A c.(3217-3219)gtG>gtA p.V1073V BRCA 14 35242895 35242895 + Missense_Mutation SNP C C G TCGA-AC-A2FO-01A-11D-A17W-09 TCGA-AC-A2FO-11A-12D-A17W-09 g.chr14:35242895C>G c.3035G>C c.(3034-3036)aGt>aCt p.S1012T BRCA 14 35243682 35243682 + Missense_Mutation SNP C C G TCGA-AN-A0AL-01A-11W-A019-09 TCGA-AN-A0AL-10A-01W-A021-09 g.chr14:35243682C>G c.2848G>C c.(2848-2850)Gat>Cat p.D950H BRCA 14 35245193 35245193 + Nonsense_Mutation SNP A A T TCGA-BH-A0BW-01A-11D-A10Y-09 TCGA-BH-A0BW-10A-01D-A110-09 g.chr14:35245193A>T c.2765T>A c.(2764-2766)tTg>tAg p.L922* BRCA 14 35245596 35245596 + Missense_Mutation SNP C C T TCGA-B6-A0RE-01A-11W-A071-09 TCGA-B6-A0RE-10A-01W-A071-09 g.chr14:35245596C>T c.2362G>A c.(2362-2364)Gag>Aag p.E788K BRCA 14 35249434 35249434 + Missense_Mutation SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 g.chr14:35249434C>T c.2194G>A c.(2194-2196)Gaa>Aaa p.E732K BRCA 14 35262107 35262107 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 g.chr14:35262107C>G c.1384G>C c.(1384-1386)Gta>Cta p.V462L BRCA 14 35264070 35264070 + Silent SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 g.chr14:35264070C>T c.1248G>A c.(1246-1248)gtG>gtA p.V416V BRCA 14 35269544 35269544 + Missense_Mutation SNP C C A TCGA-AQ-A54O-01A-11D-A25Q-09 TCGA-AQ-A54O-10A-01D-A25Q-09 g.chr14:35269544C>A c.1014G>T c.(1012-1014)aaG>aaT p.K338N BRCA 14 35331501 35331501 + Silent SNP G G A TCGA-AR-A2LE-01A-11D-A17W-09 TCGA-AR-A2LE-10A-01D-A17W-09 g.chr14:35331501G>A c.141C>T c.(139-141)tgC>tgT p.C47C BRCA 14 35343775 35343775 + Silent SNP C C T TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 g.chr14:35343775C>T c.36G>A c.(34-36)caG>caA p.Q12Q CESC 14 35243591 35243591 + Missense_Mutation SNP C C G TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 g.chr14:35243591C>G c.2939G>C c.(2938-2940)aGa>aCa p.R980T COAD 14 35224069 35224069 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr14:35224069G>A c.4438C>T c.(4438-4440)Cgt>Tgt p.R1480C COAD 14 35228014 35228014 + Nonsense_Mutation SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr14:35228014G>A c.4282C>T c.(4282-4284)Cga>Tga p.R1428* COAD 14 35230980 35230980 + Frame_Shift_Del DEL C C - TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr14:35230980delC c.4226delG c.(4225-4227)agafs p.R1409fs COAD 14 35231152 35231152 + Missense_Mutation SNP G G A TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr14:35231152G>A c.4054C>T c.(4054-4056)Ctt>Ttt p.L1352F COAD 14 35233925 35233926 + Missense_Mutation DNP TC TC AA TCGA-DM-A28F-01A-11D-A16V-10 TCGA-DM-A28F-10A-01D-A16V-10 g.chr14:35233925_35233926TC>AA c.3763_3764GA>TT c.(3763-3765)GAg>TTg p.E1255L COAD 14 35234241 35234241 + Nonsense_Mutation SNP G G A TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr14:35234241G>A c.3535C>T c.(3535-3537)Cga>Tga p.R1179* COAD 14 35243634 35243634 + Missense_Mutation SNP G G A TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chr14:35243634G>A c.2896C>T c.(2896-2898)Cca>Tca p.P966S COAD 14 35245128 35245128 + Frame_Shift_Del DEL A A - TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr14:35245128delA c.2830delT c.(2830-2832)tcafs p.S944fs COAD 14 35245352 35245352 + Missense_Mutation SNP G G A TCGA-CM-6678-01A-11D-1835-10 TCGA-CM-6678-10A-01D-1835-10 g.chr14:35245352G>A c.2606C>T c.(2605-2607)tCc>tTc p.S869F COAD 14 35252392 35252392 + Frame_Shift_Del DEL T T - TCGA-CM-4746-01A-01D-1408-10 TCGA-CM-4746-10A-01D-1408-10 g.chr14:35252392delT c.2044delA c.(2044-2046)atgfs p.M682fs COAD 14 35255128 35255128 + Silent SNP A A G TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr14:35255128A>G c.1686T>C c.(1684-1686)gcT>gcC p.A562A COAD 14 35262064 35262064 + Frame_Shift_Del DEL A A - TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr14:35262064delA c.1427delT c.(1426-1428)ttcfs p.F477fs COAD 14 35263999 35264000 + Frame_Shift_Ins INS - - C TCGA-CM-6674-01A-11D-1835-10 TCGA-CM-6674-10A-01D-1835-10 g.chr14:35263999_35264000insC c.1318_1319insG c.(1318-1320)gaafs p.E440fs COAD 14 35264057 35264057 + Missense_Mutation SNP G G A TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr14:35264057G>A c.1261C>T c.(1261-1263)Cct>Tct p.P421S COAD 14 35272172 35272172 + Missense_Mutation SNP T T G TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr14:35272172T>G c.749A>C c.(748-750)aAa>aCa p.K250T COAD 14 35295265 35295265 + Missense_Mutation SNP T T C TCGA-D5-5539-01A-01D-1650-10 TCGA-D5-5539-10A-01D-1650-10 g.chr14:35295265T>C c.490A>G c.(490-492)Agt>Ggt p.S164G COAD 14 35331343 35331343 + Missense_Mutation SNP C C T TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chr14:35331343C>T c.299G>A c.(298-300)cGc>cAc p.R100H COAD 14 35331346 35331346 + Missense_Mutation SNP G G A TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr14:35331346G>A c.296C>T c.(295-297)tCg>tTg p.S99L COAD 14 35331396 35331396 + Silent SNP T T C TCGA-CK-4948-01B-11D-1650-10 TCGA-CK-4948-10A-01D-1650-10 g.chr14:35331396T>C c.246A>G c.(244-246)ccA>ccG p.P82P COAD 14 35331396 35331396 + Silent SNP T T C TCGA-G4-6306-01A-11D-1771-10 TCGA-G4-6306-10A-01D-1771-10 g.chr14:35331396T>C c.246A>G c.(244-246)ccA>ccG p.P82P COAD 14 35331475 35331475 + Missense_Mutation SNP A A G TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr14:35331475A>G c.167T>C c.(166-168)gTg>gCg p.V56A COAD 14 35331514 35331514 + Missense_Mutation SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr14:35331514C>T c.128G>A c.(127-129)cGa>cAa p.R43Q COAD 14 35331519 35331519 + Frame_Shift_Del DEL A A - TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr14:35331519delA c.123delT c.(121-123)tttfs p.F41fs COADREAD 14 35224069 35224069 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr14:35224069G>A c.4438C>T c.(4438-4440)Cgt>Tgt p.R1480C COADREAD 14 35228014 35228014 + Nonsense_Mutation SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr14:35228014G>A c.4282C>T c.(4282-4284)Cga>Tga p.R1428* COADREAD 14 35230980 35230980 + Frame_Shift_Del DEL C C - TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr14:35230980delC c.4226delG c.(4225-4227)agafs p.R1409fs COADREAD 14 35231152 35231152 + Missense_Mutation SNP G G A TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr14:35231152G>A c.4054C>T c.(4054-4056)Ctt>Ttt p.L1352F COADREAD 14 35233925 35233926 + Missense_Mutation DNP TC TC AA TCGA-DM-A28F-01A-11D-A16V-10 TCGA-DM-A28F-10A-01D-A16V-10 g.chr14:35233925_35233926TC>AA c.3763_3764GA>TT c.(3763-3765)GAg>TTg p.E1255L COADREAD 14 35234232 35234232 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr14:35234232G>A c.3544C>T c.(3544-3546)Ctc>Ttc p.L1182F COADREAD 14 35234241 35234241 + Nonsense_Mutation SNP G G A TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr14:35234241G>A c.3535C>T c.(3535-3537)Cga>Tga p.R1179* COADREAD 14 35243634 35243634 + Missense_Mutation SNP G G A TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chr14:35243634G>A c.2896C>T c.(2896-2898)Cca>Tca p.P966S COADREAD 14 35245128 35245128 + Frame_Shift_Del DEL A A - TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr14:35245128delA c.2830delT c.(2830-2832)tcafs p.S944fs COADREAD 14 35245352 35245352 + Missense_Mutation SNP G G A TCGA-CM-6678-01A-11D-1835-10 TCGA-CM-6678-10A-01D-1835-10 g.chr14:35245352G>A c.2606C>T c.(2605-2607)tCc>tTc p.S869F COADREAD 14 35252392 35252392 + Frame_Shift_Del DEL T T - TCGA-CM-4746-01A-01D-1408-10 TCGA-CM-4746-10A-01D-1408-10 g.chr14:35252392delT c.2044delA c.(2044-2046)atgfs p.M682fs COADREAD 14 35255128 35255128 + Silent SNP A A G TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr14:35255128A>G c.1686T>C c.(1684-1686)gcT>gcC p.A562A COADREAD 14 35262064 35262064 + Frame_Shift_Del DEL A A - TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr14:35262064delA c.1427delT c.(1426-1428)ttcfs p.F477fs COADREAD 14 35262071 35262071 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr14:35262071G>T c.1420C>A c.(1420-1422)Ctt>Att p.L474I COADREAD 14 35263999 35264000 + Frame_Shift_Ins INS - - C TCGA-CM-6674-01A-11D-1835-10 TCGA-CM-6674-10A-01D-1835-10 g.chr14:35263999_35264000insC c.1318_1319insG c.(1318-1320)gaafs p.E440fs COADREAD 14 35264057 35264057 + Missense_Mutation SNP G G A TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr14:35264057G>A c.1261C>T c.(1261-1263)Cct>Tct p.P421S COADREAD 14 35272172 35272172 + Missense_Mutation SNP T T G TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr14:35272172T>G c.749A>C c.(748-750)aAa>aCa p.K250T COADREAD 14 35295263 35295263 + Silent SNP A A G TCGA-DY-A1H8-01A-21D-A152-10 TCGA-DY-A1H8-10A-01D-A152-10 g.chr14:35295263A>G c.492T>C c.(490-492)agT>agC p.S164S COADREAD 14 35295265 35295265 + Missense_Mutation SNP T T C TCGA-D5-5539-01A-01D-1650-10 TCGA-D5-5539-10A-01D-1650-10 g.chr14:35295265T>C c.490A>G c.(490-492)Agt>Ggt p.S164G COADREAD 14 35331343 35331343 + Missense_Mutation SNP C C T TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chr14:35331343C>T c.299G>A c.(298-300)cGc>cAc p.R100H COADREAD 14 35331346 35331346 + Missense_Mutation SNP G G A TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr14:35331346G>A c.296C>T c.(295-297)tCg>tTg p.S99L COADREAD 14 35331396 35331396 + Silent SNP T T C TCGA-CK-4948-01B-11D-1650-10 TCGA-CK-4948-10A-01D-1650-10 g.chr14:35331396T>C c.246A>G c.(244-246)ccA>ccG p.P82P COADREAD 14 35331396 35331396 + Silent SNP T T C TCGA-G4-6306-01A-11D-1771-10 TCGA-G4-6306-10A-01D-1771-10 g.chr14:35331396T>C c.246A>G c.(244-246)ccA>ccG p.P82P COADREAD 14 35331475 35331475 + Missense_Mutation SNP A A G TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr14:35331475A>G c.167T>C c.(166-168)gTg>gCg p.V56A COADREAD 14 35331514 35331514 + Missense_Mutation SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr14:35331514C>T c.128G>A c.(127-129)cGa>cAa p.R43Q COADREAD 14 35331519 35331519 + Frame_Shift_Del DEL A A - TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr14:35331519delA c.123delT c.(121-123)tttfs p.F41fs DLBC 14 35231204 35231204 + Silent SNP A A G TCGA-FA-A4BB-01A-11D-A31X-10 TCGA-FA-A4BB-10A-01D-A31X-10 g.chr14:35231204A>G c.4002T>C c.(4000-4002)cgT>cgC p.R1334R ESCA 14 35255028 35255028 + Missense_Mutation SNP G G T TCGA-IG-A50L-01A-11D-A27G-09 TCGA-IG-A50L-10A-01D-A27G-09 g.chr14:35255028G>T c.1786C>A c.(1786-1788)Cta>Ata p.L596I GBM 14 35331298 35331298 + Missense_Mutation SNP C C T TCGA-74-6577-01A-11D-1845-08 TCGA-74-6577-10A-01D-1845-08 g.chr14:35331298C>T c.344G>A c.(343-345)cGa>cAa p.R115Q GBMLGG 14 35234240 35234240 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr14:35234240C>T c.3536G>A c.(3535-3537)cGa>cAa p.R1179Q GBMLGG 14 35331298 35331298 + Missense_Mutation SNP C C T TCGA-74-6577-01A-11D-1845-08 TCGA-74-6577-10A-01D-1845-08 g.chr14:35331298C>T c.344G>A c.(343-345)cGa>cAa p.R115Q HNSC 14 35245154 35245154 + Missense_Mutation SNP C C T TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 g.chr14:35245154C>T c.2804G>A c.(2803-2805)cGt>cAt p.R935H HNSC 14 35253084 35253084 + Silent SNP T T C TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 g.chr14:35253084T>C c.1881A>G c.(1879-1881)ctA>ctG p.L627L HNSC 14 35262044 35262044 + Nonsense_Mutation SNP G G A TCGA-CV-5432-01A-02D-1683-08 TCGA-CV-5432-10A-01D-1870-08 g.chr14:35262044G>A c.1447C>T c.(1447-1449)Cag>Tag p.Q483* HNSC 14 35331380 35331381 + Frame_Shift_Ins INS - - A TCGA-T3-A92N-01A-11D-A391-08 TCGA-T3-A92N-10A-01D-A394-08 g.chr14:35331380_35331381insA c.261_262insT c.(259-264)attccafs p.P88fs HNSC 14 35343736 35343736 + Missense_Mutation SNP G G C TCGA-CV-7415-01A-11D-2078-08 TCGA-CV-7415-10A-01D-2078-08 g.chr14:35343736G>C c.75C>G c.(73-75)ttC>ttG p.F25L KIPAN 14 35242930 35242930 + Silent SNP A A G TCGA-HE-7129-01A-11D-1961-08 TCGA-HE-7129-10A-01D-1962-08 g.chr14:35242930A>G c.3000T>C c.(2998-3000)gtT>gtC p.V1000V KIPAN 14 35264070 35264070 + Silent SNP C C A TCGA-CJ-6027-01A-11D-1669-08 TCGA-CJ-6027-11A-01D-1669-08 g.chr14:35264070C>A c.1248G>T c.(1246-1248)gtG>gtT p.V416V KIRC 14 35264070 35264070 + Silent SNP C C A TCGA-CJ-6027-01A-11D-1669-08 TCGA-CJ-6027-11A-01D-1669-08 g.chr14:35264070C>A c.1248G>T c.(1246-1248)gtG>gtT p.V416V KIRP 14 35242930 35242930 + Silent SNP A A G TCGA-HE-7129-01A-11D-1961-08 TCGA-HE-7129-10A-01D-1962-08 g.chr14:35242930A>G c.3000T>C c.(2998-3000)gtT>gtC p.V1000V LGG 14 35234240 35234240 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr14:35234240C>T c.3536G>A c.(3535-3537)cGa>cAa p.R1179Q LIHC 14 35227928 35227928 + Silent SNP T T C TCGA-FV-A2QR-01A-11D-A20W-10 TCGA-FV-A2QR-11A-11D-A20W-10 g.chr14:35227928T>C c.4368A>G c.(4366-4368)aaA>aaG p.K1456K LIHC 14 35255190 35255190 + Silent SNP A A G TCGA-DD-A4NO-01A-11D-A28X-10 TCGA-DD-A4NO-10A-01D-A28X-10 g.chr14:35255190A>G c.1624T>C c.(1624-1626)Ttg>Ctg p.L542L LIHC 14 35272095 35272095 + Missense_Mutation SNP T T C TCGA-BC-A3KF-01A-11D-A20W-10 TCGA-BC-A3KF-10A-01D-A20W-10 g.chr14:35272095T>C c.826A>G c.(826-828)Aga>Gga p.R276G LIHC 14 35331372 35331372 + Silent SNP T T C TCGA-DD-AAE3-01A-11D-A40R-10 TCGA-DD-AAE3-10A-01D-A40U-10 g.chr14:35331372T>C c.270A>G c.(268-270)ttA>ttG p.L90L LUAD 14 35227951 35227951 + Missense_Mutation SNP C C T TCGA-50-5935-01A-11D-1753-08 TCGA-50-5935-11A-01D-1753-08 g.chr14:35227951C>T c.4345G>A c.(4345-4347)Gat>Aat p.D1449N LUAD 14 35234329 35234329 + Silent SNP C C A TCGA-86-8585-01A-11D-2393-08 TCGA-86-8585-10A-01D-2393-08 g.chr14:35234329C>A c.3447G>T c.(3445-3447)gcG>gcT p.A1149A LUAD 14 35240752 35240752 + Missense_Mutation SNP T T A TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 g.chr14:35240752T>A c.3266A>T c.(3265-3267)cAg>cTg p.Q1089L LUAD 14 35243536 35243536 + Missense_Mutation SNP G G C TCGA-55-1592-01A-01D-0969-08 TCGA-55-1592-11A-01D-0969-08 g.chr14:35243536G>C c.2994C>G c.(2992-2994)atC>atG p.I998M LUAD 14 35243648 35243648 + Missense_Mutation SNP G G T TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 g.chr14:35243648G>T c.2882C>A c.(2881-2883)tCc>tAc p.S961Y LUAD 14 35243654 35243654 + Missense_Mutation SNP C C G TCGA-44-3918-01A-01D-1105-08 TCGA-44-3918-11A-01D-1105-08 g.chr14:35243654C>G c.2876G>C c.(2875-2877)aGa>aCa p.R959T LUAD 14 35253077 35253077 + Missense_Mutation SNP T T A TCGA-44-6778-01A-11D-1855-08 TCGA-44-6778-10A-01D-1855-08 g.chr14:35253077T>A c.1888A>T c.(1888-1890)Act>Tct p.T630S LUAD 14 35262077 35262077 + Missense_Mutation SNP C C T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 g.chr14:35262077C>T c.1414G>A c.(1414-1416)Gaa>Aaa p.E472K LUAD 14 35264947 35264947 + Missense_Mutation SNP T T C TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 g.chr14:35264947T>C c.1153A>G c.(1153-1155)Aag>Gag p.K385E LUAD 14 35331515 35331515 + Missense_Mutation SNP G G C TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 g.chr14:35331515G>C c.127C>G c.(127-129)Cga>Gga p.R43G LUSC 14 35228004 35228005 + Missense_Mutation DNP CC CC TT TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr14:35228004_35228005CC>TT c.4291_4292GG>AA c.(4291-4293)GGa>AAa p.G1431K LUSC 14 35231082 35231082 + Missense_Mutation SNP G G A TCGA-21-5784-01A-01D-1632-08 TCGA-21-5784-10A-01D-1632-08 g.chr14:35231082G>A c.4124C>T c.(4123-4125)cCt>cTt p.P1375L LUSC 14 35231112 35231112 + Missense_Mutation SNP T T C TCGA-39-5024-01A-21D-1817-08 TCGA-39-5024-11A-01D-1817-08 g.chr14:35231112T>C c.4094A>G c.(4093-4095)aAt>aGt p.N1365S LUSC 14 35234367 35234367 + Missense_Mutation SNP C C G TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 g.chr14:35234367C>G c.3409G>C c.(3409-3411)Gat>Cat p.D1137H LUSC 14 35240723 35240723 + Missense_Mutation SNP G G C TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 g.chr14:35240723G>C c.3295C>G c.(3295-3297)Cca>Gca p.P1099A LUSC 14 35240766 35240766 + Silent SNP G G C TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 g.chr14:35240766G>C c.3252C>G c.(3250-3252)ctC>ctG p.L1084L LUSC 14 35262092 35262092 + Missense_Mutation SNP C C T TCGA-66-2773-01A-01D-1267-08 TCGA-66-2773-11A-01D-1267-08 g.chr14:35262092C>T c.1399G>A c.(1399-1401)Gaa>Aaa p.E467K LUSC 14 35263991 35263991 + Missense_Mutation SNP C C G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 g.chr14:35263991C>G c.1327G>C c.(1327-1329)Gat>Cat p.D443H LUSC 14 35264907 35264907 + Missense_Mutation SNP G G T TCGA-66-2754-01A-01D-0983-08 TCGA-66-2754-11A-01D-0983-08 g.chr14:35264907G>T c.1193C>A c.(1192-1194)cCt>cAt p.P398H LUSC 14 35272070 35272070 + Missense_Mutation SNP T T C TCGA-34-2600-01A-01D-1522-08 TCGA-34-2600-11A-01D-1522-08 g.chr14:35272070T>C c.851A>G c.(850-852)cAt>cGt p.H284R LUSC 14 35280155 35280155 + Silent SNP T T C TCGA-66-2800-01A-01D-1267-08 TCGA-66-2800-11A-01D-1267-08 g.chr14:35280155T>C c.624A>G c.(622-624)aaA>aaG p.K208K LUSC 14 35295249 35295249 + Nonsense_Mutation SNP G G C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 g.chr14:35295249G>C c.506C>G c.(505-507)tCa>tGa p.S169* OV 14 35227976 35227976 + Silent SNP T T C TCGA-29-1698-01A-01W-0633-09 TCGA-29-1698-10A-01W-0633-09 g.chr14:35227976T>C c.4320A>G c.(4318-4320)caA>caG p.Q1440Q OV 14 35263993 35263993 + Missense_Mutation SNP A A G TCGA-13-0793-01A-01W-0370-10 TCGA-13-0793-10A-01W-0370-10 g.chr14:35263993A>G c.1325T>C c.(1324-1326)tTt>tCt p.F442S OV 14 35331430 35331430 + Missense_Mutation SNP T T A TCGA-24-1413-01A-01W-0494-09 TCGA-24-1413-10A-01W-0495-09 g.chr14:35331430T>A c.212A>T c.(211-213)gAa>gTa p.E71V PAAD 14 35245537 35245537 + Silent SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr14:35245537G>A c.2421C>T c.(2419-2421)cgC>cgT p.R807R PRAD 14 35222776 35222776 + Missense_Mutation SNP C C T TCGA-XK-AAJP-01A-11D-A41K-08 TCGA-XK-AAJP-10A-01D-A41N-08 g.chr14:35222776C>T c.4609G>A c.(4609-4611)Gtc>Atc p.V1537I PRAD 14 35255348 35255348 + Nonsense_Mutation SNP C C T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 g.chr14:35255348C>T c.1590G>A c.(1588-1590)tgG>tgA p.W530* READ 14 35234232 35234232 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr14:35234232G>A c.3544C>T c.(3544-3546)Ctc>Ttc p.L1182F READ 14 35262071 35262071 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr14:35262071G>T c.1420C>A c.(1420-1422)Ctt>Att p.L474I READ 14 35295263 35295263 + Silent SNP A A G TCGA-DY-A1H8-01A-21D-A152-10 TCGA-DY-A1H8-10A-01D-A152-10 g.chr14:35295263A>G c.492T>C c.(490-492)agT>agC p.S164S SARC 14 35233923 35233923 + Missense_Mutation SNP C C G TCGA-WP-A9GB-01A-11D-A37C-09 TCGA-WP-A9GB-10A-01D-A37F-09 g.chr14:35233923C>G c.3766G>C c.(3766-3768)Gaa>Caa p.E1256Q SKCM 14 35224069 35224069 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr14:35224069G>A c.4438C>T c.(4438-4440)Cgt>Tgt p.R1480C SKCM 14 35224118 35224118 + Silent SNP G G A TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 g.chr14:35224118G>A c.4389C>T c.(4387-4389)gtC>gtT p.V1463V SKCM 14 35231092 35231092 + Missense_Mutation SNP G G A TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 g.chr14:35231092G>A c.4114C>T c.(4114-4116)Ccc>Tcc p.P1372S SKCM 14 35234256 35234256 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chr14:35234256G>A c.3520C>T c.(3520-3522)Cat>Tat p.H1174Y SKCM 14 35243540 35243540 + Missense_Mutation SNP G G A TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr14:35243540G>A c.2990C>T c.(2989-2991)gCc>gTc p.A997V SKCM 14 35245491 35245491 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr14:35245491G>A c.2467C>T c.(2467-2469)Ctc>Ttc p.L823F SKCM 14 35253102 35253102 + Missense_Mutation SNP A A C TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr14:35253102A>C c.1863T>G c.(1861-1863)tgT>tgG p.C621W SKCM 14 35253105 35253105 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr14:35253105G>A c.1860C>T c.(1858-1860)ctC>ctT p.L620L SKCM 14 35255033 35255033 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr14:35255033G>A c.1781C>T c.(1780-1782)cCc>cTc p.P594L SKCM 14 35255046 35255046 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr14:35255046G>A c.1768C>T c.(1768-1770)Cgt>Tgt p.R590C SKCM 14 35255046 35255046 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr14:35255046G>A c.1768C>T c.(1768-1770)Cgt>Tgt p.R590C SKCM 14 35263973 35263973 + Missense_Mutation SNP G G A TCGA-EE-A183-06A-11D-A196-08 TCGA-EE-A183-10A-01D-A198-08 g.chr14:35263973G>A c.1345C>T c.(1345-1347)Cct>Tct p.P449S SKCM 14 35264087 35264087 + Missense_Mutation SNP G G A TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr14:35264087G>A c.1231C>T c.(1231-1233)Cca>Tca p.P411S SKCM 14 35270308 35270308 + Missense_Mutation SNP T T C TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr14:35270308T>C c.953A>G c.(952-954)aAg>aGg p.K318R SKCM 14 35272177 35272177 + Silent SNP C C T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 g.chr14:35272177C>T c.744G>A c.(742-744)acG>acA p.T248T

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 14 35242847 35242847 single base substitution A G exon_variant BLCA-CN 14 35242847 35242847 single base substitution A G missense_variant I1028T 3083T>C BLCA-CN 14 35242847 35242847 single base substitution A G missense_variant I996T 2987T>C BLCA-CN 14 35242847 35242847 single base substitution A G upstream_gene_variant BLCA-CN 14 35255163 35255163 single base substitution C G exon_variant BLCA-CN 14 35255163 35255163 single base substitution C G missense_variant E519Q 1555G>C BLCA-CN 14 35255163 35255163 single base substitution C G missense_variant E551Q 1651G>C BLCA-CN 14 35255163 35255163 single base substitution C G upstream_gene_variant BLCA-CN 14 35262024 35262024 single base substitution T C synonymous_variant E489E 1467A>G BLCA-US 14 35227931 35227931 single base substitution C G exon_variant BLCA-US 14 35227931 35227931 single base substitution C G intron_variant BLCA-US 14 35227931 35227931 single base substitution C G missense_variant L1423F 4269G>C BLCA-US 14 35227931 35227931 single base substitution C G missense_variant L1455F 4365G>C BLCA-US 14 35227966 35227966 single base substitution C G exon_variant BLCA-US 14 35227966 35227966 single base substitution C G intron_variant BLCA-US 14 35227966 35227966 single base substitution C G missense_variant E1412Q 4234G>C BLCA-US 14 35227966 35227966 single base substitution C G missense_variant E1444Q 4330G>C BLCA-US 14 35228028 35228028 single base substitution C T exon_variant BLCA-US 14 35228028 35228028 single base substitution C T intron_variant BLCA-US 14 35228028 35228028 single base substitution C T missense_variant R1391Q 4172G>A BLCA-US 14 35228028 35228028 single base substitution C T missense_variant R1423Q 4268G>A BLCA-US 14 35234031 35234031 single base substitution C G downstream_gene_variant BLCA-US 14 35234031 35234031 single base substitution C G missense_variant D1188H 3562G>C BLCA-US 14 35234031 35234031 single base substitution C G missense_variant D1220H 3658G>C BLCA-US 14 35234031 35234031 single base substitution C G upstream_gene_variant BLCA-US 14 35240754 35240755 deletion of <=200bp CT - exon_variant BLCA-US 14 35240754 35240755 deletion of <=200bp CT - frameshift_variant E1056 BLCA-US 14 35240754 35240755 deletion of <=200bp CT - frameshift_variant E1088 BOCA-FR 14 35230930 35230930 single base substitution C A downstream_gene_variant BOCA-FR 14 35230930 35230930 single base substitution C A intron_variant BOCA-FR 14 35260435 35260435 single base substitution C T intron_variant BOCA-FR 14 35260435 35260435 single base substitution C T upstream_gene_variant BRCA-EU 14 35217637 35217637 single base substitution G A downstream_gene_variant BRCA-EU 14 35217807 35217807 single base substitution C T downstream_gene_variant BRCA-EU 14 35218155 35218155 single base substitution G C downstream_gene_variant BRCA-EU 14 35219515 35219515 single base substitution C G downstream_gene_variant BRCA-EU 14 35221245 35221245 single base substitution T C downstream_gene_variant BRCA-EU 14 35221508 35221508 single base substitution T C downstream_gene_variant BRCA-EU 14 35222769 35222769 single base substitution G T 3_prime_UTR_variant BRCA-EU 14 35222769 35222769 single base substitution G T missense_variant P1507H 4520C>A BRCA-EU 14 35222769 35222769 single base substitution G T missense_variant P1539H 4616C>A BRCA-EU 14 35223722 35223722 single base substitution T C downstream_gene_variant BRCA-EU 14 35223722 35223722 single base substitution T C intron_variant BRCA-EU 14 35224492 35224492 single base substitution G T downstream_gene_variant BRCA-EU 14 35224492 35224492 single base substitution G T intron_variant BRCA-EU 14 35226022 35226022 single base substitution C A downstream_gene_variant BRCA-EU 14 35226022 35226022 single base substitution C A intron_variant BRCA-EU 14 35226614 35226614 single base substitution T C downstream_gene_variant BRCA-EU 14 35226614 35226614 single base substitution T C intron_variant BRCA-EU 14 35227802 35227802 single base substitution C T exon_variant BRCA-EU 14 35227802 35227802 single base substitution C T intron_variant BRCA-EU 14 35228160 35228160 single base substitution C T intron_variant BRCA-EU 14 35228350 35228350 single base substitution T C intron_variant BRCA-EU 14 35229398 35229398 single base substitution C T downstream_gene_variant BRCA-EU 14 35229398 35229398 single base substitution C T intron_variant BRCA-EU 14 35229560 35229560 single base substitution C T downstream_gene_variant BRCA-EU 14 35229560 35229560 single base substitution C T intron_variant BRCA-EU 14 35229743 35229743 single base substitution T G downstream_gene_variant BRCA-EU 14 35229743 35229743 single base substitution T G intron_variant BRCA-EU 14 35229804 35229804 single base substitution C A downstream_gene_variant BRCA-EU 14 35229804 35229804 single base substitution C A intron_variant BRCA-EU 14 35230905 35230905 single base substitution C T downstream_gene_variant BRCA-EU 14 35230905 35230905 single base substitution C T intron_variant BRCA-EU 14 35231259 35231259 single base substitution C G downstream_gene_variant BRCA-EU 14 35231259 35231259 single base substitution C G missense_variant R1284T 3851G>C BRCA-EU 14 35231259 35231259 single base substitution C G missense_variant R1316T 3947G>C BRCA-EU 14 35231259 35231259 single base substitution C G upstream_gene_variant BRCA-EU 14 35231782 35231782 single base substitution A G downstream_gene_variant BRCA-EU 14 35231782 35231782 single base substitution A G intron_variant BRCA-EU 14 35231782 35231782 single base substitution A G upstream_gene_variant BRCA-EU 14 35232630 35232630 single base substitution A T downstream_gene_variant BRCA-EU 14 35232630 35232630 single base substitution A T intron_variant BRCA-EU 14 35232630 35232630 single base substitution A T upstream_gene_variant BRCA-EU 14 35232982 35232982 deletion of <=200bp T - downstream_gene_variant BRCA-EU 14 35232982 35232982 deletion of <=200bp T - intron_variant BRCA-EU 14 35232982 35232982 deletion of <=200bp T - upstream_gene_variant BRCA-EU 14 35233670 35233670 single base substitution C G downstream_gene_variant BRCA-EU 14 35233670 35233670 single base substitution C G intron_variant BRCA-EU 14 35233670 35233670 single base substitution C G upstream_gene_variant BRCA-EU 14 35234717 35234717 single base substitution G C intron_variant BRCA-EU 14 35234717 35234717 single base substitution G C upstream_gene_variant BRCA-EU 14 35235066 35235066 single base substitution C T intron_variant BRCA-EU 14 35235066 35235066 single base substitution C T upstream_gene_variant BRCA-EU 14 35236504 35236504 single base substitution C G downstream_gene_variant BRCA-EU 14 35236504 35236504 single base substitution C G intron_variant BRCA-EU 14 35238735 35238735 single base substitution C G downstream_gene_variant BRCA-EU 14 35238735 35238735 single base substitution C G intron_variant BRCA-EU 14 35239369 35239369 insertion of <=200bp - T downstream_gene_variant BRCA-EU 14 35239369 35239369 insertion of <=200bp - T intron_variant BRCA-EU 14 35240927 35240927 single base substitution C A intron_variant BRCA-EU 14 35240927 35240927 single base substitution C A upstream_gene_variant BRCA-EU 14 35241271 35241271 single base substitution C A intron_variant BRCA-EU 14 35241271 35241271 single base substitution C A upstream_gene_variant BRCA-EU 14 35242226 35242226 single base substitution C T intron_variant BRCA-EU 14 35242226 35242226 single base substitution C T upstream_gene_variant BRCA-EU 14 35244417 35244417 insertion of <=200bp - A downstream_gene_variant BRCA-EU 14 35244417 35244417 insertion of <=200bp - A intron_variant BRCA-EU 14 35244417 35244417 insertion of <=200bp - A upstream_gene_variant BRCA-EU 14 35244846 35244846 single base substitution C G downstream_gene_variant BRCA-EU 14 35244846 35244846 single base substitution C G intron_variant BRCA-EU 14 35244846 35244846 single base substitution C G upstream_gene_variant BRCA-EU 14 35245960 35245960 single base substitution C G downstream_gene_variant BRCA-EU 14 35245960 35245960 single base substitution C G intron_variant BRCA-EU 14 35245960 35245960 single base substitution C G upstream_gene_variant BRCA-EU 14 35246294 35246294 single base substitution G C downstream_gene_variant BRCA-EU 14 35246294 35246294 single base substitution G C intron_variant BRCA-EU 14 35246294 35246294 single base substitution G C upstream_gene_variant BRCA-EU 14 35248019 35248019 single base substitution C G downstream_gene_variant BRCA-EU 14 35248019 35248019 single base substitution C G intron_variant BRCA-EU 14 35248706 35248706 single base substitution C T downstream_gene_variant BRCA-EU 14 35248706 35248706 single base substitution C T intron_variant BRCA-EU 14 35248815 35248815 single base substitution T C downstream_gene_variant BRCA-EU 14 35248815 35248815 single base substitution T C intron_variant BRCA-EU 14 35250049 35250049 single base substitution T C downstream_gene_variant BRCA-EU 14 35250049 35250049 single base substitution T C intron_variant BRCA-EU 14 35250545 35250545 insertion of <=200bp - C downstream_gene_variant BRCA-EU 14 35250545 35250545 insertion of <=200bp - C intron_variant BRCA-EU 14 35250983 35250983 single base substitution G A downstream_gene_variant BRCA-EU 14 35250983 35250983 single base substitution G A intron_variant BRCA-EU 14 35251850 35251850 single base substitution A G downstream_gene_variant BRCA-EU 14 35251850 35251850 single base substitution A G intron_variant BRCA-EU 14 35254741 35254741 single base substitution T G intron_variant BRCA-EU 14 35254741 35254741 single base substitution T G upstream_gene_variant BRCA-EU 14 35256192 35256192 deletion of <=200bp A - intron_variant BRCA-EU 14 35256192 35256192 deletion of <=200bp A - upstream_gene_variant BRCA-EU 14 35257867 35257867 single base substitution A T intron_variant BRCA-EU 14 35257867 35257867 single base substitution A T upstream_gene_variant BRCA-EU 14 35258674 35258674 single base substitution A C intron_variant BRCA-EU 14 35258674 35258674 single base substitution A C upstream_gene_variant BRCA-EU 14 35259230 35259230 single base substitution C T intron_variant BRCA-EU 14 35259230 35259230 single base substitution C T upstream_gene_variant BRCA-EU 14 35259548 35259551 deletion of <=200bp ATTT - intron_variant BRCA-EU 14 35259548 35259551 deletion of <=200bp ATTT - upstream_gene_variant BRCA-EU 14 35261207 35261207 single base substitution T A intron_variant BRCA-EU 14 35262023 35262023 single base substitution C T missense_variant E490K 1468G>A BRCA-EU 14 35266218 35266218 single base substitution A C intron_variant BRCA-EU 14 35266241 35266241 deletion of <=200bp A - intron_variant BRCA-EU 14 35266493 35266493 single base substitution C T intron_variant BRCA-EU 14 35266880 35266880 single base substitution C A intron_variant BRCA-EU 14 35272905 35272905 single base substitution T C intron_variant BRCA-EU 14 35273367 35273367 single base substitution C A intron_variant BRCA-EU 14 35273720 35273720 single base substitution T C intron_variant BRCA-EU 14 35273750 35273758 deletion of <=200bp TTCCACCAG - intron_variant BRCA-EU 14 35274128 35274128 single base substitution G A intron_variant BRCA-EU 14 35277034 35277034 single base substitution G A downstream_gene_variant BRCA-EU 14 35277034 35277034 single base substitution G A intron_variant BRCA-EU 14 35277416 35277416 single base substitution C G downstream_gene_variant BRCA-EU 14 35277416 35277416 single base substitution C G intron_variant BRCA-EU 14 35279713 35279713 single base substitution A G downstream_gene_variant BRCA-EU 14 35279713 35279713 single base substitution A G intron_variant BRCA-EU 14 35280353 35280353 insertion of <=200bp - T intron_variant BRCA-EU 14 35281432 35281432 deletion of <=200bp G - intron_variant BRCA-EU 14 35285107 35285107 single base substitution C G intron_variant BRCA-EU 14 35285475 35285475 single base substitution A G intron_variant BRCA-EU 14 35286531 35286531 single base substitution T A intron_variant BRCA-EU 14 35287054 35287054 single base substitution G T intron_variant BRCA-EU 14 35287824 35287824 deletion of <=200bp A - intron_variant BRCA-EU 14 35288028 35288028 single base substitution G T intron_variant BRCA-EU 14 35288790 35288790 single base substitution C T intron_variant BRCA-EU 14 35289856 35289856 single base substitution C T intron_variant BRCA-EU 14 35291865 35291865 single base substitution C G intron_variant BRCA-EU 14 35292163 35292163 single base substitution A G intron_variant BRCA-EU 14 35294435 35294435 single base substitution C T downstream_gene_variant BRCA-EU 14 35294435 35294435 single base substitution C T intron_variant BRCA-EU 14 35295935 35295935 single base substitution G C downstream_gene_variant BRCA-EU 14 35295935 35295935 single base substitution G C intron_variant BRCA-EU 14 35296095 35296095 single base substitution G A downstream_gene_variant BRCA-EU 14 35296095 35296095 single base substitution G A intron_variant BRCA-EU 14 35299133 35299133 single base substitution C T intron_variant BRCA-EU 14 35300967 35300967 single base substitution C T intron_variant BRCA-EU 14 35301342 35301342 single base substitution C G intron_variant BRCA-EU 14 35302129 35302129 single base substitution C G intron_variant BRCA-EU 14 35303746 35303746 single base substitution A G intron_variant BRCA-EU 14 35303898 35303898 single base substitution T C intron_variant BRCA-EU 14 35304256 35304256 single base substitution G A intron_variant BRCA-EU 14 35306806 35306806 single base substitution C G intron_variant BRCA-EU 14 35308593 35308593 single base substitution G A intron_variant BRCA-EU 14 35310608 35310608 insertion of <=200bp - T intron_variant BRCA-EU 14 35310815 35310815 single base substitution C G intron_variant BRCA-EU 14 35311867 35311867 single base substitution T C intron_variant BRCA-EU 14 35312164 35312164 single base substitution G A intron_variant BRCA-EU 14 35312615 35312615 single base substitution C G intron_variant BRCA-EU 14 35313322 35313322 single base substitution G T intron_variant BRCA-EU 14 35315049 35315049 single base substitution G C intron_variant BRCA-EU 14 35316096 35316096 deletion of <=200bp A - intron_variant BRCA-EU 14 35316502 35316502 single base substitution G A intron_variant BRCA-EU 14 35318000 35318000 single base substitution G C intron_variant BRCA-EU 14 35318803 35318803 single base substitution G A intron_variant BRCA-EU 14 35319037 35319037 single base substitution G A intron_variant BRCA-EU 14 35319294 35319294 single base substitution A C intron_variant BRCA-EU 14 35322854 35322854 single base substitution G A intron_variant BRCA-EU 14 35323648 35323648 single base substitution G T intron_variant BRCA-EU 14 35323762 35323762 single base substitution G T intron_variant BRCA-EU 14 35324641 35324641 single base substitution C T intron_variant BRCA-EU 14 35325096 35325096 single base substitution T G intron_variant BRCA-EU 14 35326021 35326021 single base substitution G A intron_variant BRCA-EU 14 35327125 35327125 single base substitution C T intron_variant BRCA-EU 14 35327560 35327560 single base substitution T C intron_variant BRCA-EU 14 35328678 35328678 single base substitution A C intron_variant BRCA-EU 14 35332492 35332492 single base substitution C G intron_variant BRCA-EU 14 35332492 35332492 single base substitution C G upstream_gene_variant BRCA-EU 14 35334999 35334999 single base substitution G C intron_variant BRCA-EU 14 35334999 35334999 single base substitution G C upstream_gene_variant BRCA-EU 14 35335162 35335162 single base substitution G A intron_variant BRCA-EU 14 35335162 35335162 single base substitution G A upstream_gene_variant BRCA-EU 14 35336053 35336053 single base substitution G A intron_variant BRCA-EU 14 35336053 35336053 single base substitution G A upstream_gene_variant BRCA-EU 14 35336248 35336248 single base substitution G A intron_variant BRCA-EU 14 35336248 35336248 single base substitution G A upstream_gene_variant BRCA-EU 14 35336478 35336478 single base substitution A G intron_variant BRCA-EU 14 35336478 35336478 single base substitution A G upstream_gene_variant BRCA-EU 14 35337866 35337866 single base substitution G A intron_variant BRCA-EU 14 35338257 35338257 deletion of <=200bp A - intron_variant BRCA-EU 14 35339623 35339623 single base substitution T C intron_variant BRCA-EU 14 35340269 35340269 deletion of <=200bp A - intron_variant BRCA-EU 14 35342706 35342706 single base substitution T A intron_variant BRCA-EU 14 35344335 35344335 single base substitution G A intron_variant BRCA-EU 14 35344335 35344335 single base substitution G A upstream_gene_variant BRCA-EU 14 35346368 35346368 single base substitution C T upstream_gene_variant BRCA-FR 14 35228990 35228990 single base substitution C G intron_variant BRCA-FR 14 35230905 35230905 single base substitution C T downstream_gene_variant BRCA-FR 14 35230905 35230905 single base substitution C T intron_variant BRCA-FR 14 35238735 35238735 single base substitution C G downstream_gene_variant BRCA-FR 14 35238735 35238735 single base substitution C G intron_variant BRCA-FR 14 35267845 35267845 single base substitution C T intron_variant BRCA-FR 14 35268560 35268560 single base substitution G C intron_variant BRCA-FR 14 35273367 35273367 single base substitution C A intron_variant BRCA-FR 14 35291865 35291865 single base substitution C G intron_variant BRCA-FR 14 35299684 35299684 single base substitution G C intron_variant BRCA-FR 14 35300967 35300967 single base substitution C T intron_variant BRCA-FR 14 35303746 35303746 single base substitution A G intron_variant BRCA-FR 14 35311114 35311114 single base substitution A G intron_variant BRCA-FR 14 35316502 35316502 single base substitution G A intron_variant BRCA-FR 14 35318000 35318000 single base substitution G C intron_variant BRCA-FR 14 35326021 35326021 single base substitution G A intron_variant BRCA-FR 14 35336248 35336248 single base substitution G A intron_variant BRCA-FR 14 35336248 35336248 single base substitution G A upstream_gene_variant BRCA-UK 14 35254741 35254741 single base substitution T G intron_variant BRCA-UK 14 35254741 35254741 single base substitution T G upstream_gene_variant BRCA-UK 14 35261616 35261616 single base substitution G C intron_variant BRCA-UK 14 35261691 35261691 single base substitution G C intron_variant BRCA-UK 14 35283915 35283915 single base substitution C G intron_variant BRCA-UK 14 35287428 35287428 single base substitution G C intron_variant BRCA-UK 14 35288248 35288248 single base substitution G T intron_variant BRCA-UK 14 35320655 35320655 single base substitution C G intron_variant BRCA-UK 14 35342236 35342236 single base substitution G C intron_variant BRCA-US 14 35231037 35231037 single base substitution G A downstream_gene_variant BRCA-US 14 35231037 35231037 single base substitution G A exon_variant BRCA-US 14 35231037 35231037 single base substitution G A missense_variant S1358F 4073C>T BRCA-US 14 35231037 35231037 single base substitution G A missense_variant S1390F 4169C>T BRCA-US 14 35231037 35231037 single base substitution G A upstream_gene_variant BRCA-US 14 35240774 35240774 single base substitution T C exon_variant BRCA-US 14 35240774 35240774 single base substitution T C missense_variant M1050V 3148A>G BRCA-US 14 35240774 35240774 single base substitution T C missense_variant M1082V 3244A>G BRCA-US 14 35242895 35242895 single base substitution C G exon_variant BRCA-US 14 35242895 35242895 single base substitution C G missense_variant S1012T 3035G>C BRCA-US 14 35242895 35242895 single base substitution C G missense_variant S980T 2939G>C BRCA-US 14 35242895 35242895 single base substitution C G upstream_gene_variant BRCA-US 14 35243682 35243682 single base substitution C G missense_variant D918H 2752G>C BRCA-US 14 35243682 35243682 single base substitution C G missense_variant D950H 2848G>C BRCA-US 14 35243682 35243682 single base substitution C G upstream_gene_variant BRCA-US 14 35245193 35245193 single base substitution A T downstream_gene_variant BRCA-US 14 35245193 35245193 single base substitution A T stop_gained L890* 2669T>A BRCA-US 14 35245193 35245193 single base substitution A T stop_gained L922* 2765T>A BRCA-US 14 35245193 35245193 single base substitution A T upstream_gene_variant BRCA-US 14 35245596 35245596 single base substitution C T downstream_gene_variant BRCA-US 14 35245596 35245596 single base substitution C T missense_variant E756K 2266G>A BRCA-US 14 35245596 35245596 single base substitution C T missense_variant E788K 2362G>A BRCA-US 14 35245596 35245596 single base substitution C T upstream_gene_variant BRCA-US 14 35249434 35249434 single base substitution C T downstream_gene_variant BRCA-US 14 35249434 35249434 single base substitution C T exon_variant BRCA-US 14 35249434 35249434 single base substitution C T missense_variant E700K 2098G>A BRCA-US 14 35249434 35249434 single base substitution C T missense_variant E732K 2194G>A BRCA-US 14 35262107 35262107 single base substitution C G missense_variant V462L 1384G>C BRCA-US 14 35264070 35264070 single base substitution C T synonymous_variant V416V 1248G>A BRCA-US 14 35269544 35269544 single base substitution C A missense_variant K338N 1014G>T BRCA-US 14 35331501 35331501 single base substitution G A exon_variant BRCA-US 14 35331501 35331501 single base substitution G A synonymous_variant C47C 141C>T BRCA-US 14 35331501 35331501 single base substitution G A upstream_gene_variant BRCA-US 14 35343775 35343775 single base substitution C T synonymous_variant Q12Q 36G>A BTCA-JP 14 35224129 35224129 single base substitution T C downstream_gene_variant BTCA-JP 14 35224129 35224129 single base substitution T C intron_variant BTCA-JP 14 35255162 35255162 single base substitution T G exon_variant BTCA-JP 14 35255162 35255162 single base substitution T G missense_variant E519A 1556A>C BTCA-JP 14 35255162 35255162 single base substitution T G missense_variant E551A 1652A>C BTCA-JP 14 35255162 35255162 single base substitution T G upstream_gene_variant BTCA-JP 14 35295433 35295433 single base substitution G A downstream_gene_variant BTCA-JP 14 35295433 35295433 single base substitution G A intron_variant CESC-US 14 35243591 35243591 single base substitution C G missense_variant R948T 2843G>C CESC-US 14 35243591 35243591 single base substitution C G missense_variant R980T 2939G>C CESC-US 14 35243591 35243591 single base substitution C G upstream_gene_variant CLLE-ES 14 35242336 35242336 single base substitution C T intron_variant CLLE-ES 14 35242336 35242336 single base substitution C T upstream_gene_variant CLLE-ES 14 35270940 35270940 single base substitution C A intron_variant CLLE-ES 14 35319018 35319018 single base substitution G A intron_variant CLLE-ES 14 35346446 35346461 deletion of <=200bp AAAAAAAAAAAAAAAA - upstream_gene_variant CLLE-ES 14 35349263 35349263 single base substitution C T upstream_gene_variant COAD-US 14 35222777 35222777 single base substitution G A 3_prime_UTR_variant COAD-US 14 35222777 35222777 single base substitution G A downstream_gene_variant COAD-US 14 35222777 35222777 single base substitution G A synonymous_variant H1504H 4512C>T COAD-US 14 35222777 35222777 single base substitution G A synonymous_variant H1536H 4608C>T COAD-US 14 35224069 35224069 single base substitution G A 3_prime_UTR_variant COAD-US 14 35224069 35224069 single base substitution G A downstream_gene_variant COAD-US 14 35224069 35224069 single base substitution G A missense_variant R1448C 4342C>T COAD-US 14 35224069 35224069 single base substitution G A missense_variant R1480C 4438C>T COAD-US 14 35230980 35230980 deletion of <=200bp C - downstream_gene_variant COAD-US 14 35230980 35230980 deletion of <=200bp C - exon_variant COAD-US 14 35230980 35230980 deletion of <=200bp C - frameshift_variant R1377 COAD-US 14 35230980 35230980 deletion of <=200bp C - frameshift_variant R1409 COAD-US 14 35231152 35231152 single base substitution G A downstream_gene_variant COAD-US 14 35231152 35231152 single base substitution G A missense_variant L1320F 3958C>T COAD-US 14 35231152 35231152 single base substitution G A missense_variant L1352F 4054C>T COAD-US 14 35231152 35231152 single base substitution G A upstream_gene_variant COAD-US 14 35233925 35233925 single base substitution T A downstream_gene_variant COAD-US 14 35233925 35233925 single base substitution T A missense_variant E1223V 3668A>T COAD-US 14 35233925 35233925 single base substitution T A missense_variant E1255V 3764A>T COAD-US 14 35233925 35233925 single base substitution T A upstream_gene_variant COAD-US 14 35233926 35233926 single base substitution C A downstream_gene_variant COAD-US 14 35233926 35233926 single base substitution C A stop_gained E1223* 3667G>T COAD-US 14 35233926 35233926 single base substitution C A stop_gained E1255* 3763G>T COAD-US 14 35233926 35233926 single base substitution C A upstream_gene_variant COAD-US 14 35245128 35245128 deletion of <=200bp A - downstream_gene_variant COAD-US 14 35245128 35245128 deletion of <=200bp A - frameshift_variant S912 COAD-US 14 35245128 35245128 deletion of <=200bp A - frameshift_variant S944 COAD-US 14 35245128 35245128 deletion of <=200bp A - upstream_gene_variant COAD-US 14 35245352 35245352 single base substitution G A downstream_gene_variant COAD-US 14 35245352 35245352 single base substitution G A missense_variant S837F 2510C>T COAD-US 14 35245352 35245352 single base substitution G A missense_variant S869F 2606C>T COAD-US 14 35245352 35245352 single base substitution G A upstream_gene_variant COAD-US 14 35262064 35262064 deletion of <=200bp A - frameshift_variant F476 COAD-US 14 35263983 35263983 single base substitution T C synonymous_variant Q445Q 1335A>G COAD-US 14 35263999 35263999 insertion of <=200bp - C frameshift_variant E440E? COAD-US 14 35264057 35264057 single base substitution G A missense_variant P421S 1261C>T COAD-US 14 35331346 35331346 single base substitution G A exon_variant COAD-US 14 35331346 35331346 single base substitution G A missense_variant S99L 296C>T COAD-US 14 35331346 35331346 single base substitution G A upstream_gene_variant COAD-US 14 35331423 35331423 deletion of <=200bp T - exon_variant COAD-US 14 35331423 35331423 deletion of <=200bp T - frameshift_variant K73 COAD-US 14 35331423 35331423 deletion of <=200bp T - upstream_gene_variant COAD-US 14 35331475 35331475 single base substitution A G exon_variant COAD-US 14 35331475 35331475 single base substitution A G missense_variant V56A 167T>C COAD-US 14 35331475 35331475 single base substitution A G upstream_gene_variant COAD-US 14 35331519 35331519 deletion of <=200bp A - frameshift_variant F41 COAD-US 14 35331519 35331519 deletion of <=200bp A - upstream_gene_variant COCA-CN 14 35224069 35224069 single base substitution G A 3_prime_UTR_variant COCA-CN 14 35224069 35224069 single base substitution G A downstream_gene_variant COCA-CN 14 35224069 35224069 single base substitution G A missense_variant R1448C 4342C>T COCA-CN 14 35224069 35224069 single base substitution G A missense_variant R1480C 4438C>T COCA-CN 14 35228013 35228013 single base substitution C T exon_variant COCA-CN 14 35228013 35228013 single base substitution C T intron_variant COCA-CN 14 35228013 35228013 single base substitution C T missense_variant R1396Q 4187G>A COCA-CN 14 35228013 35228013 single base substitution C T missense_variant R1428Q 4283G>A COCA-CN 14 35231200 35231200 single base substitution T C downstream_gene_variant COCA-CN 14 35231200 35231200 single base substitution T C missense_variant T1304A 3910A>G COCA-CN 14 35231200 35231200 single base substitution T C missense_variant T1336A 4006A>G COCA-CN 14 35231200 35231200 single base substitution T C upstream_gene_variant COCA-CN 14 35234330 35234330 single base substitution G A 3_prime_UTR_variant COCA-CN 14 35234330 35234330 single base substitution G A missense_variant A1117V 3350C>T COCA-CN 14 35234330 35234330 single base substitution G A missense_variant A1149V 3446C>T COCA-CN 14 35234330 35234330 single base substitution G A upstream_gene_variant COCA-CN 14 35234457 35234457 single base substitution G A 3_prime_UTR_variant COCA-CN 14 35234457 35234457 single base substitution G A missense_variant R1075C 3223C>T COCA-CN 14 35234457 35234457 single base substitution G A missense_variant R1107C 3319C>T COCA-CN 14 35234457 35234457 single base substitution G A upstream_gene_variant COCA-CN 14 35245748 35245748 single base substitution A G downstream_gene_variant COCA-CN 14 35245748 35245748 single base substitution A G intron_variant COCA-CN 14 35245748 35245748 single base substitution A G upstream_gene_variant COCA-CN 14 35249357 35249357 single base substitution T C downstream_gene_variant COCA-CN 14 35249357 35249357 single base substitution T C exon_variant COCA-CN 14 35249357 35249357 single base substitution T C intron_variant COCA-CN 14 35249488 35249488 single base substitution T C downstream_gene_variant COCA-CN 14 35249488 35249488 single base substitution T C exon_variant COCA-CN 14 35249488 35249488 single base substitution T C missense_variant S682G 2044A>G COCA-CN 14 35249488 35249488 single base substitution T C missense_variant S714G 2140A>G COCA-CN 14 35252202 35252202 single base substitution T G downstream_gene_variant COCA-CN 14 35252202 35252202 single base substitution T G intron_variant COCA-CN 14 35252996 35252996 single base substitution G A downstream_gene_variant COCA-CN 14 35252996 35252996 single base substitution G A exon_variant COCA-CN 14 35252996 35252996 single base substitution G A stop_gained R625* 1873C>T COCA-CN 14 35252996 35252996 single base substitution G A stop_gained R657* 1969C>T COCA-CN 14 35255428 35255428 single base substitution C A exon_variant COCA-CN 14 35255428 35255428 single base substitution C A intron_variant COCA-CN 14 35255428 35255428 single base substitution C A splice_acceptor_variant COCA-CN 14 35255428 35255428 single base substitution C A upstream_gene_variant COCA-CN 14 35261933 35261933 single base substitution C T intron_variant COCA-CN 14 35264111 35264111 single base substitution T G intron_variant COCA-CN 14 35270247 35270247 single base substitution G T intron_variant COCA-CN 14 35331287 35331287 single base substitution C T exon_variant COCA-CN 14 35331287 35331287 single base substitution C T missense_variant E119K 355G>A COCA-CN 14 35346173 35346173 single base substitution C T upstream_gene_variant EOPC-DE 14 35227457 35227457 single base substitution G A downstream_gene_variant EOPC-DE 14 35227457 35227457 single base substitution G A intron_variant EOPC-DE 14 35260342 35260342 single base substitution A G intron_variant EOPC-DE 14 35260342 35260342 single base substitution A G upstream_gene_variant ESAD-UK 14 35218384 35218384 single base substitution G A downstream_gene_variant ESAD-UK 14 35226404 35226404 single base substitution C G downstream_gene_variant ESAD-UK 14 35226404 35226404 single base substitution C G intron_variant ESAD-UK 14 35229941 35229941 single base substitution G A downstream_gene_variant ESAD-UK 14 35229941 35229941 single base substitution G A intron_variant ESAD-UK 14 35239354 35239354 single base substitution A C downstream_gene_variant ESAD-UK 14 35239354 35239354 single base substitution A C intron_variant ESAD-UK 14 35239659 35239659 deletion of <=200bp A - downstream_gene_variant ESAD-UK 14 35239659 35239659 deletion of <=200bp A - intron_variant ESAD-UK 14 35240416 35240416 single base substitution C T exon_variant ESAD-UK 14 35240416 35240416 single base substitution C T intron_variant ESAD-UK 14 35242515 35242515 single base substitution T C intron_variant ESAD-UK 14 35242515 35242515 single base substitution T C upstream_gene_variant ESAD-UK 14 35250722 35250722 single base substitution G T downstream_gene_variant ESAD-UK 14 35250722 35250722 single base substitution G T intron_variant ESAD-UK 14 35251648 35251648 single base substitution T C downstream_gene_variant ESAD-UK 14 35251648 35251648 single base substitution T C intron_variant ESAD-UK 14 35252602 35252602 single base substitution T A downstream_gene_variant ESAD-UK 14 35252602 35252602 single base substitution T A intron_variant ESAD-UK 14 35254589 35254589 insertion of <=200bp - A intron_variant ESAD-UK 14 35254589 35254589 insertion of <=200bp - A upstream_gene_variant ESAD-UK 14 35256192 35256192 deletion of <=200bp A - intron_variant ESAD-UK 14 35256192 35256192 deletion of <=200bp A - upstream_gene_variant ESAD-UK 14 35257672 35257672 single base substitution C G intron_variant ESAD-UK 14 35257672 35257672 single base substitution C G upstream_gene_variant ESAD-UK 14 35257868 35257868 single base substitution A T intron_variant ESAD-UK 14 35257868 35257868 single base substitution A T upstream_gene_variant ESAD-UK 14 35258147 35258147 single base substitution C G intron_variant ESAD-UK 14 35258147 35258147 single base substitution C G upstream_gene_variant ESAD-UK 14 35258663 35258663 single base substitution G T intron_variant ESAD-UK 14 35258663 35258663 single base substitution G T upstream_gene_variant ESAD-UK 14 35258903 35258903 single base substitution A C intron_variant ESAD-UK 14 35258903 35258903 single base substitution A C upstream_gene_variant ESAD-UK 14 35260326 35260326 single base substitution C T intron_variant ESAD-UK 14 35260326 35260326 single base substitution C T upstream_gene_variant ESAD-UK 14 35261938 35261938 single base substitution C A intron_variant ESAD-UK 14 35262739 35262739 single base substitution A G intron_variant ESAD-UK 14 35263924 35263924 single base substitution T C intron_variant ESAD-UK 14 35263974 35263974 single base substitution A G synonymous_variant F448F 1344T>C ESAD-UK 14 35263992 35263993 deletion of <=200bp AA - frameshift_variant F442 ESAD-UK 14 35264713 35264713 single base substitution G A intron_variant ESAD-UK 14 35265282 35265282 single base substitution G A intron_variant ESAD-UK 14 35265398 35265398 insertion of <=200bp - AT intron_variant ESAD-UK 14 35266059 35266059 single base substitution C T intron_variant ESAD-UK 14 35266465 35266465 single base substitution C A intron_variant ESAD-UK 14 35273204 35273204 single base substitution T A intron_variant ESAD-UK 14 35273753 35273753 single base substitution C T intron_variant ESAD-UK 14 35274194 35274194 single base substitution A C intron_variant ESAD-UK 14 35275615 35275615 single base substitution C T downstream_gene_variant ESAD-UK 14 35275615 35275615 single base substitution C T intron_variant ESAD-UK 14 35275956 35275956 single base substitution T C downstream_gene_variant ESAD-UK 14 35275956 35275956 single base substitution T C intron_variant ESAD-UK 14 35278415 35278415 single base substitution C G downstream_gene_variant ESAD-UK 14 35278415 35278415 single base substitution C G intron_variant ESAD-UK 14 35278416 35278416 single base substitution C A downstream_gene_variant ESAD-UK 14 35278416 35278416 single base substitution C A intron_variant ESAD-UK 14 35281432 35281432 deletion of <=200bp G - intron_variant ESAD-UK 14 35281432 35281432 insertion of <=200bp - G intron_variant ESAD-UK 14 35281448 35281448 deletion of <=200bp A - intron_variant ESAD-UK 14 35292984 35292984 single base substitution T C downstream_gene_variant ESAD-UK 14 35292984 35292984 single base substitution T C intron_variant ESAD-UK 14 35295635 35295635 single base substitution T C downstream_gene_variant ESAD-UK 14 35295635 35295635 single base substitution T C intron_variant ESAD-UK 14 35296162 35296162 single base substitution G A downstream_gene_variant ESAD-UK 14 35296162 35296162 single base substitution G A intron_variant ESAD-UK 14 35297335 35297335 insertion of <=200bp - A downstream_gene_variant ESAD-UK 14 35297335 35297335 insertion of <=200bp - A intron_variant ESAD-UK 14 35298594 35298594 deletion of <=200bp A - intron_variant ESAD-UK 14 35300118 35300118 single base substitution C T intron_variant ESAD-UK 14 35302281 35302281 insertion of <=200bp - A intron_variant ESAD-UK 14 35302443 35302443 single base substitution C A intron_variant ESAD-UK 14 35302839 35302839 single base substitution G A intron_variant ESAD-UK 14 35306569 35306569 single base substitution T C intron_variant ESAD-UK 14 35307657 35307657 single base substitution T C intron_variant ESAD-UK 14 35308576 35308576 single base substitution T C intron_variant ESAD-UK 14 35310303 35310303 single base substitution C T intron_variant ESAD-UK 14 35314033 35314033 single base substitution T C intron_variant ESAD-UK 14 35316161 35316161 single base substitution A T intron_variant ESAD-UK 14 35316425 35316425 single base substitution C T intron_variant ESAD-UK 14 35316590 35316590 single base substitution A G intron_variant ESAD-UK 14 35316778 35316778 single base substitution C A intron_variant ESAD-UK 14 35319139 35319139 single base substitution T C intron_variant ESAD-UK 14 35333291 35333291 single base substitution A C intron_variant ESAD-UK 14 35333291 35333291 single base substitution A C upstream_gene_variant ESAD-UK 14 35338002 35338002 single base substitution G A intron_variant ESAD-UK 14 35340242 35340242 insertion of <=200bp - A intron_variant ESAD-UK 14 35346397 35346397 single base substitution C A upstream_gene_variant ESAD-UK 14 35348117 35348117 single base substitution T C upstream_gene_variant ESCA-CN 14 35222372 35222372 single base substitution C T 3_prime_UTR_variant ESCA-CN 14 35222372 35222372 single base substitution C T downstream_gene_variant ESCA-CN 14 35240744 35240744 single base substitution C G exon_variant ESCA-CN 14 35240744 35240744 single base substitution C G missense_variant E1060Q 3178G>C ESCA-CN 14 35240744 35240744 single base substitution C G missense_variant E1092Q 3274G>C ESCA-CN 14 35262022 35262024 deletion of <=200bp TCT - disruptive_inframe_deletion EE489E GBM-US 14 35331298 35331298 single base substitution C T exon_variant GBM-US 14 35331298 35331298 single base substitution C T missense_variant R115Q 344G>A KIRC-US 14 35264070 35264070 single base substitution C A synonymous_variant V416V 1248G>T KIRP-US 14 35242930 35242930 single base substitution A G exon_variant KIRP-US 14 35242930 35242930 single base substitution A G splice_region_variant KIRP-US 14 35242930 35242930 single base substitution A G upstream_gene_variant LAML-CN 14 35245716 35245716 single base substitution T C downstream_gene_variant LAML-CN 14 35245716 35245716 single base substitution T C missense_variant R716G 2146A>G LAML-CN 14 35245716 35245716 single base substitution T C missense_variant R748G 2242A>G LAML-CN 14 35245716 35245716 single base substitution T C upstream_gene_variant LAML-KR 14 35225351 35225351 single base substitution A G downstream_gene_variant LAML-KR 14 35225351 35225351 single base substitution A G intron_variant LAML-KR 14 35226403 35226403 single base substitution T G downstream_gene_variant LAML-KR 14 35226403 35226403 single base substitution T G intron_variant LAML-KR 14 35226660 35226660 single base substitution C T downstream_gene_variant LAML-KR 14 35226660 35226660 single base substitution C T intron_variant LAML-KR 14 35254093 35254093 single base substitution T C intron_variant LAML-KR 14 35254093 35254093 single base substitution T C upstream_gene_variant LAML-KR 14 35275124 35275124 single base substitution G T intron_variant LAML-KR 14 35333064 35333064 single base substitution C T intron_variant LAML-KR 14 35333064 35333064 single base substitution C T upstream_gene_variant LICA-CN 14 35276698 35276698 single base substitution T C downstream_gene_variant LICA-CN 14 35276698 35276698 single base substitution T C missense_variant K229E 685A>G LICA-FR 14 35216962 35216962 single base substitution C T downstream_gene_variant LICA-FR 14 35228117 35228139 deletion of <=200bp ACTGGATATATAAATACCAAATT - intron_variant LICA-FR 14 35228339 35228339 single base substitution T C intron_variant LICA-FR 14 35234457 35234457 single base substitution G A 3_prime_UTR_variant LICA-FR 14 35234457 35234457 single base substitution G A missense_variant R1075C 3223C>T LICA-FR 14 35234457 35234457 single base substitution G A missense_variant R1107C 3319C>T LICA-FR 14 35234457 35234457 single base substitution G A upstream_gene_variant LICA-FR 14 35240721 35240721 single base substitution T G exon_variant LICA-FR 14 35240721 35240721 single base substitution T G synonymous_variant P1067P 3201A>C LICA-FR 14 35240721 35240721 single base substitution T G synonymous_variant P1099P 3297A>C LICA-FR 14 35240756 35240756 single base substitution C G exon_variant LICA-FR 14 35240756 35240756 single base substitution C G missense_variant E1056Q 3166G>C LICA-FR 14 35240756 35240756 single base substitution C G missense_variant E1088Q 3262G>C LICA-FR 14 35245224 35245224 single base substitution C G downstream_gene_variant LICA-FR 14 35245224 35245224 single base substitution C G missense_variant G880R 2638G>C LICA-FR 14 35245224 35245224 single base substitution C G missense_variant G912R 2734G>C LICA-FR 14 35245224 35245224 single base substitution C G upstream_gene_variant LICA-FR 14 35271112 35271112 insertion of <=200bp - AAA intron_variant LICA-FR 14 35277742 35277742 single base substitution C T downstream_gene_variant LICA-FR 14 35277742 35277742 single base substitution C T intron_variant LICA-FR 14 35284272 35284272 single base substitution C T intron_variant LICA-FR 14 35313543 35313543 single base substitution T C intron_variant LICA-FR 14 35316538 35316538 single base substitution C T intron_variant LICA-FR 14 35341979 35341979 single base substitution A T intron_variant LIHC-US 14 35227971 35227971 single base substitution A G exon_variant LIHC-US 14 35227971 35227971 single base substitution A G intron_variant LIHC-US 14 35227971 35227971 single base substitution A G missense_variant V1410A 4229T>C LIHC-US 14 35227971 35227971 single base substitution A G missense_variant V1442A 4325T>C LIHC-US 14 35231121 35231121 single base substitution T C downstream_gene_variant LIHC-US 14 35231121 35231121 single base substitution T C exon_variant LIHC-US 14 35231121 35231121 single base substitution T C missense_variant K1330R 3989A>G LIHC-US 14 35231121 35231121 single base substitution T C missense_variant K1362R 4085A>G LIHC-US 14 35231121 35231121 single base substitution T C upstream_gene_variant LIHC-US 14 35231375 35231375 single base substitution T G downstream_gene_variant LIHC-US 14 35231375 35231375 single base substitution T G missense_variant K1245N 3735A>C LIHC-US 14 35231375 35231375 single base substitution T G missense_variant K1277N 3831A>C LIHC-US 14 35231375 35231375 single base substitution T G upstream_gene_variant LIHC-US 14 35255190 35255190 single base substitution A G exon_variant LIHC-US 14 35255190 35255190 single base substitution A G synonymous_variant L510L 1528T>C LIHC-US 14 35255190 35255190 single base substitution A G synonymous_variant L542L 1624T>C LIHC-US 14 35255190 35255190 single base substitution A G upstream_gene_variant LIHC-US 14 35272095 35272095 single base substitution T C missense_variant R276G 826A>G LIHC-US 14 35280226 35280226 single base substitution T C 3_prime_UTR_variant LIHC-US 14 35280226 35280226 single base substitution T C missense_variant I185V 553A>G LINC-JP 14 35220534 35220534 single base substitution A G downstream_gene_variant LINC-JP 14 35235832 35235832 single base substitution G A downstream_gene_variant LINC-JP 14 35235832 35235832 single base substitution G A intron_variant LINC-JP 14 35235832 35235832 single base substitution G A upstream_gene_variant LINC-JP 14 35236536 35236536 single base substitution A G downstream_gene_variant LINC-JP 14 35236536 35236536 single base substitution A G intron_variant LINC-JP 14 35245597 35245597 single base substitution T C downstream_gene_variant LINC-JP 14 35245597 35245597 single base substitution T C synonymous_variant K755K 2265A>G LINC-JP 14 35245597 35245597 single base substitution T C synonymous_variant K787K 2361A>G LINC-JP 14 35245597 35245597 single base substitution T C upstream_gene_variant LINC-JP 14 35247212 35247212 single base substitution A C downstream_gene_variant LINC-JP 14 35247212 35247212 single base substitution A C intron_variant LINC-JP 14 35247212 35247212 single base substitution A C upstream_gene_variant LINC-JP 14 35249543 35249543 single base substitution T A downstream_gene_variant LINC-JP 14 35249543 35249543 single base substitution T A intron_variant LINC-JP 14 35252369 35252369 single base substitution C A downstream_gene_variant LINC-JP 14 35252369 35252369 single base substitution C A exon_variant LINC-JP 14 35252369 35252369 single base substitution C A synonymous_variant L657L 1971G>T LINC-JP 14 35252369 35252369 single base substitution C A synonymous_variant L689L 2067G>T LINC-JP 14 35254024 35254024 deletion of <=200bp A - intron_variant LINC-JP 14 35254024 35254024 deletion of <=200bp A - upstream_gene_variant LINC-JP 14 35255618 35255618 single base substitution A T exon_variant LINC-JP 14 35255618 35255618 single base substitution A T intron_variant LINC-JP 14 35255618 35255618 single base substitution A T upstream_gene_variant LINC-JP 14 35260101 35260101 single base substitution C T intron_variant LINC-JP 14 35260101 35260101 single base substitution C T upstream_gene_variant LINC-JP 14 35264980 35264980 single base substitution T G intron_variant LINC-JP 14 35264990 35264990 single base substitution T C intron_variant LINC-JP 14 35276525 35276525 single base substitution A G downstream_gene_variant LINC-JP 14 35276525 35276525 single base substitution A G intron_variant LINC-JP 14 35280226 35280226 single base substitution T C 3_prime_UTR_variant LINC-JP 14 35280226 35280226 single base substitution T C missense_variant I185V 553A>G LINC-JP 14 35292834 35292834 single base substitution T G downstream_gene_variant LINC-JP 14 35292834 35292834 single base substitution T G intron_variant LINC-JP 14 35302345 35302345 single base substitution G A intron_variant LINC-JP 14 35311914 35311914 single base substitution T C intron_variant LINC-JP 14 35319289 35319289 deletion of <=200bp A - intron_variant LINC-JP 14 35320859 35320859 deletion of <=200bp A - intron_variant LINC-JP 14 35321857 35321857 single base substitution T C intron_variant LINC-JP 14 35323338 35323338 single base substitution A T intron_variant LINC-JP 14 35325162 35325162 deletion of <=200bp A - intron_variant LINC-JP 14 35331477 35331477 single base substitution A G exon_variant LINC-JP 14 35331477 35331477 single base substitution A G synonymous_variant A55A 165T>C LINC-JP 14 35331477 35331477 single base substitution A G upstream_gene_variant LINC-JP 14 35333064 35333064 single base substitution C T intron_variant LINC-JP 14 35333064 35333064 single base substitution C T upstream_gene_variant LIRI-JP 14 35218281 35218281 single base substitution A T downstream_gene_variant LIRI-JP 14 35219533 35219533 single base substitution A G downstream_gene_variant LIRI-JP 14 35221648 35221648 single base substitution T C downstream_gene_variant LIRI-JP 14 35224318 35224318 single base substitution G A downstream_gene_variant LIRI-JP 14 35224318 35224318 single base substitution G A intron_variant LIRI-JP 14 35225509 35225509 single base substitution G A downstream_gene_variant LIRI-JP 14 35225509 35225509 single base substitution G A intron_variant LIRI-JP 14 35227765 35227765 single base substitution G A downstream_gene_variant LIRI-JP 14 35227765 35227765 single base substitution G A intron_variant LIRI-JP 14 35228029 35228029 single base substitution G C exon_variant LIRI-JP 14 35228029 35228029 single base substitution G C intron_variant LIRI-JP 14 35228029 35228029 single base substitution G C missense_variant R1391G 4171C>G LIRI-JP 14 35228029 35228029 single base substitution G C missense_variant R1423G 4267C>G LIRI-JP 14 35228887 35228887 single base substitution T A intron_variant LIRI-JP 14 35228888 35228888 single base substitution A T intron_variant LIRI-JP 14 35229198 35229198 single base substitution T C downstream_gene_variant LIRI-JP 14 35229198 35229198 single base substitution T C intron_variant LIRI-JP 14 35229555 35229555 single base substitution T C downstream_gene_variant LIRI-JP 14 35229555 35229555 single base substitution T C intron_variant LIRI-JP 14 35234233 35234233 single base substitution C T 3_prime_UTR_variant LIRI-JP 14 35234233 35234233 single base substitution C T synonymous_variant K1149K 3447G>A LIRI-JP 14 35234233 35234233 single base substitution C T synonymous_variant K1181K 3543G>A LIRI-JP 14 35234233 35234233 single base substitution C T upstream_gene_variant LIRI-JP 14 35235164 35235164 single base substitution T C intron_variant LIRI-JP 14 35235164 35235164 single base substitution T C upstream_gene_variant LIRI-JP 14 35236404 35236404 single base substitution T C downstream_gene_variant LIRI-JP 14 35236404 35236404 single base substitution T C intron_variant LIRI-JP 14 35237093 35237093 single base substitution T C downstream_gene_variant LIRI-JP 14 35237093 35237093 single base substitution T C intron_variant LIRI-JP 14 35239197 35239197 single base substitution T G downstream_gene_variant LIRI-JP 14 35239197 35239197 single base substitution T G intron_variant LIRI-JP 14 35239621 35239621 single base substitution A C downstream_gene_variant LIRI-JP 14 35239621 35239621 single base substitution A C intron_variant LIRI-JP 14 35245532 35245532 single base substitution C T downstream_gene_variant LIRI-JP 14 35245532 35245532 single base substitution C T missense_variant R777H 2330G>A LIRI-JP 14 35245532 35245532 single base substitution C T missense_variant R809H 2426G>A LIRI-JP 14 35245532 35245532 single base substitution C T upstream_gene_variant LIRI-JP 14 35248702 35248702 single base substitution A G downstream_gene_variant LIRI-JP 14 35248702 35248702 single base substitution A G intron_variant LIRI-JP 14 35249048 35249048 single base substitution T C downstream_gene_variant LIRI-JP 14 35249048 35249048 single base substitution T C intron_variant LIRI-JP 14 35249281 35249281 single base substitution T C downstream_gene_variant LIRI-JP 14 35249281 35249281 single base substitution T C intron_variant LIRI-JP 14 35250365 35250365 single base substitution G T downstream_gene_variant LIRI-JP 14 35250365 35250365 single base substitution G T intron_variant LIRI-JP 14 35254533 35254533 single base substitution T C intron_variant LIRI-JP 14 35254533 35254533 single base substitution T C upstream_gene_variant LIRI-JP 14 35255600 35255600 single base substitution A G exon_variant LIRI-JP 14 35255600 35255600 single base substitution A G intron_variant LIRI-JP 14 35255600 35255600 single base substitution A G upstream_gene_variant LIRI-JP 14 35255615 35255615 single base substitution A C exon_variant LIRI-JP 14 35255615 35255615 single base substitution A C intron_variant LIRI-JP 14 35255615 35255615 single base substitution A C upstream_gene_variant LIRI-JP 14 35255729 35255729 single base substitution A C exon_variant LIRI-JP 14 35255729 35255729 single base substitution A C intron_variant LIRI-JP 14 35255729 35255729 single base substitution A C upstream_gene_variant LIRI-JP 14 35255811 35255811 deletion of <=200bp G - intron_variant LIRI-JP 14 35255811 35255811 deletion of <=200bp G - upstream_gene_variant LIRI-JP 14 35255880 35255880 single base substitution C G intron_variant LIRI-JP 14 35255880 35255880 single base substitution C G upstream_gene_variant LIRI-JP 14 35256176 35256176 single base substitution T A intron_variant LIRI-JP 14 35256176 35256176 single base substitution T A upstream_gene_variant LIRI-JP 14 35256181 35256181 single base substitution G T intron_variant LIRI-JP 14 35256181 35256181 single base substitution G T upstream_gene_variant LIRI-JP 14 35262211 35262211 single base substitution C T intron_variant LIRI-JP 14 35262387 35262387 single base substitution A C intron_variant LIRI-JP 14 35267202 35267202 single base substitution C T intron_variant LIRI-JP 14 35271846 35271846 single base substitution T C intron_variant LIRI-JP 14 35272885 35272890 deletion of <=200bp TTAACA - intron_variant LIRI-JP 14 35273667 35273667 single base substitution A C intron_variant LIRI-JP 14 35274039 35274039 single base substitution C T intron_variant LIRI-JP 14 35274442 35274442 single base substitution T C intron_variant LIRI-JP 14 35274731 35274731 single base substitution T C intron_variant LIRI-JP 14 35274814 35274814 single base substitution T C intron_variant LIRI-JP 14 35275310 35275310 single base substitution T G downstream_gene_variant LIRI-JP 14 35275310 35275310 single base substitution T G intron_variant LIRI-JP 14 35284465 35284465 single base substitution T C intron_variant LIRI-JP 14 35284857 35284857 single base substitution T C intron_variant LIRI-JP 14 35285446 35285446 single base substitution A G intron_variant LIRI-JP 14 35287868 35287868 single base substitution T A intron_variant LIRI-JP 14 35290882 35290882 single base substitution T C intron_variant LIRI-JP 14 35293938 35293938 single base substitution T G downstream_gene_variant LIRI-JP 14 35293938 35293938 single base substitution T G intron_variant LIRI-JP 14 35295291 35295291 single base substitution C A downstream_gene_variant LIRI-JP 14 35295291 35295291 single base substitution C A exon_variant LIRI-JP 14 35295291 35295291 single base substitution C A missense_variant S155I 464G>T LIRI-JP 14 35300966 35300966 single base substitution T G intron_variant LIRI-JP 14 35302162 35302162 single base substitution T C intron_variant LIRI-JP 14 35303618 35303618 single base substitution C T intron_variant LIRI-JP 14 35308802 35308802 single base substitution C A intron_variant LIRI-JP 14 35310142 35310142 single base substitution T C intron_variant LIRI-JP 14 35314920 35314920 single base substitution A G intron_variant LIRI-JP 14 35318857 35318857 single base substitution C A intron_variant LIRI-JP 14 35319793 35319793 single base substitution A C intron_variant LIRI-JP 14 35323008 35323008 single base substitution G A intron_variant LIRI-JP 14 35323812 35323812 single base substitution A G intron_variant LIRI-JP 14 35323970 35323970 single base substitution C A intron_variant LIRI-JP 14 35326418 35326418 single base substitution T G intron_variant LIRI-JP 14 35329035 35329035 single base substitution T A intron_variant LIRI-JP 14 35332927 35332927 single base substitution T G intron_variant LIRI-JP 14 35332927 35332927 single base substitution T G upstream_gene_variant LIRI-JP 14 35334466 35334466 single base substitution T C intron_variant LIRI-JP 14 35334466 35334466 single base substitution T C upstream_gene_variant LIRI-JP 14 35338292 35338292 single base substitution A G intron_variant LIRI-JP 14 35340287 35340287 single base substitution T C intron_variant LIRI-JP 14 35341155 35341155 single base substitution C A intron_variant LIRI-JP 14 35341580 35341580 single base substitution A C intron_variant LIRI-JP 14 35348473 35348473 single base substitution A G upstream_gene_variant LIRI-JP 14 35349574 35349574 single base substitution T G upstream_gene_variant LUSC-KR 14 35221183 35221183 single base substitution G C downstream_gene_variant LUSC-KR 14 35223956 35223956 single base substitution A G downstream_gene_variant LUSC-KR 14 35223956 35223956 single base substitution A G intron_variant LUSC-KR 14 35223971 35223971 single base substitution A G downstream_gene_variant LUSC-KR 14 35223971 35223971 single base substitution A G intron_variant LUSC-KR 14 35227880 35227880 single base substitution G T exon_variant LUSC-KR 14 35227880 35227880 single base substitution G T intron_variant LUSC-KR 14 35228090 35228090 single base substitution G A intron_variant LUSC-KR 14 35228909 35228909 single base substitution C G intron_variant LUSC-KR 14 35230906 35230906 single base substitution G A downstream_gene_variant LUSC-KR 14 35230906 35230906 single base substitution G A intron_variant LUSC-KR 14 35233515 35233515 single base substitution G T downstream_gene_variant LUSC-KR 14 35233515 35233515 single base substitution G T intron_variant LUSC-KR 14 35233515 35233515 single base substitution G T upstream_gene_variant LUSC-KR 14 35236877 35236877 single base substitution T C downstream_gene_variant LUSC-KR 14 35236877 35236877 single base substitution T C intron_variant LUSC-KR 14 35243347 35243347 single base substitution C G intron_variant LUSC-KR 14 35243347 35243347 single base substitution C G upstream_gene_variant LUSC-KR 14 35243829 35243829 single base substitution A G intron_variant LUSC-KR 14 35243829 35243829 single base substitution A G upstream_gene_variant LUSC-KR 14 35256661 35256661 single base substitution C T intron_variant LUSC-KR 14 35256661 35256661 single base substitution C T upstream_gene_variant LUSC-KR 14 35261728 35261728 single base substitution T C intron_variant LUSC-KR 14 35263096 35263096 single base substitution C T intron_variant LUSC-KR 14 35264255 35264255 single base substitution T C intron_variant LUSC-KR 14 35270478 35270478 single base substitution A G intron_variant LUSC-KR 14 35274801 35274801 single base substitution T G intron_variant LUSC-KR 14 35280207 35280207 single base substitution T C 3_prime_UTR_variant LUSC-KR 14 35280207 35280207 single base substitution T C missense_variant K191R 572A>G LUSC-KR 14 35283150 35283150 single base substitution G A intron_variant LUSC-KR 14 35284558 35284558 single base substitution G C intron_variant LUSC-KR 14 35285102 35285102 single base substitution T C intron_variant LUSC-KR 14 35285130 35285130 single base substitution T C intron_variant LUSC-KR 14 35285796 35285796 single base substitution G C intron_variant LUSC-KR 14 35291930 35291930 single base substitution T C intron_variant LUSC-KR 14 35293573 35293573 single base substitution C A downstream_gene_variant LUSC-KR 14 35293573 35293573 single base substitution C A intron_variant LUSC-KR 14 35296670 35296670 single base substitution G A downstream_gene_variant LUSC-KR 14 35296670 35296670 single base substitution G A intron_variant LUSC-KR 14 35296890 35296890 single base substitution G A downstream_gene_variant LUSC-KR 14 35296890 35296890 single base substitution G A intron_variant LUSC-KR 14 35298052 35298052 single base substitution A T intron_variant LUSC-KR 14 35303539 35303539 single base substitution T C intron_variant LUSC-KR 14 35304222 35304222 single base substitution C A intron_variant LUSC-KR 14 35314496 35314496 single base substitution G T intron_variant LUSC-KR 14 35321108 35321108 single base substitution C A intron_variant LUSC-KR 14 35333204 35333204 single base substitution G C intron_variant LUSC-KR 14 35333204 35333204 single base substitution G C upstream_gene_variant LUSC-KR 14 35335204 35335204 single base substitution C G intron_variant LUSC-KR 14 35335204 35335204 single base substitution C G upstream_gene_variant LUSC-KR 14 35337824 35337824 single base substitution T C intron_variant LUSC-KR 14 35343617 35343617 single base substitution G A intron_variant LUSC-KR 14 35346645 35346645 single base substitution G A upstream_gene_variant LUSC-KR 14 35347701 35347701 single base substitution G T upstream_gene_variant LUSC-KR 14 35348094 35348094 single base substitution C A upstream_gene_variant LUSC-US 14 35228004 35228004 single base substitution C T exon_variant LUSC-US 14 35228004 35228004 single base substitution C T intron_variant LUSC-US 14 35228004 35228004 single base substitution C T missense_variant G1399E 4196G>A LUSC-US 14 35228004 35228004 single base substitution C T missense_variant G1431E 4292G>A LUSC-US 14 35228005 35228005 single base substitution C T exon_variant LUSC-US 14 35228005 35228005 single base substitution C T intron_variant LUSC-US 14 35228005 35228005 single base substitution C T missense_variant G1399R 4195G>A LUSC-US 14 35228005 35228005 single base substitution C T missense_variant G1431R 4291G>A LUSC-US 14 35231082 35231082 single base substitution G A downstream_gene_variant LUSC-US 14 35231082 35231082 single base substitution G A exon_variant LUSC-US 14 35231082 35231082 single base substitution G A missense_variant P1343L 4028C>T LUSC-US 14 35231082 35231082 single base substitution G A missense_variant P1375L 4124C>T LUSC-US 14 35231082 35231082 single base substitution G A upstream_gene_variant LUSC-US 14 35231112 35231112 single base substitution T C downstream_gene_variant LUSC-US 14 35231112 35231112 single base substitution T C exon_variant LUSC-US 14 35231112 35231112 single base substitution T C missense_variant N1333S 3998A>G LUSC-US 14 35231112 35231112 single base substitution T C missense_variant N1365S 4094A>G LUSC-US 14 35231112 35231112 single base substitution T C upstream_gene_variant LUSC-US 14 35234367 35234367 single base substitution C G 3_prime_UTR_variant LUSC-US 14 35234367 35234367 single base substitution C G missense_variant D1105H 3313G>C LUSC-US 14 35234367 35234367 single base substitution C G missense_variant D1137H 3409G>C LUSC-US 14 35234367 35234367 single base substitution C G upstream_gene_variant LUSC-US 14 35240723 35240723 single base substitution G C exon_variant LUSC-US 14 35240723 35240723 single base substitution G C missense_variant P1067A 3199C>G LUSC-US 14 35240723 35240723 single base substitution G C missense_variant P1099A 3295C>G LUSC-US 14 35240766 35240766 single base substitution G C exon_variant LUSC-US 14 35240766 35240766 single base substitution G C synonymous_variant L1052L 3156C>G LUSC-US 14 35240766 35240766 single base substitution G C synonymous_variant L1084L 3252C>G LUSC-US 14 35262092 35262092 single base substitution C T missense_variant E467K 1399G>A LUSC-US 14 35263991 35263991 single base substitution C G missense_variant D443H 1327G>C LUSC-US 14 35264907 35264907 single base substitution G T missense_variant P398H 1193C>A LUSC-US 14 35272070 35272070 single base substitution T C missense_variant H284R 851A>G LUSC-US 14 35280155 35280155 single base substitution T C 3_prime_UTR_variant LUSC-US 14 35280155 35280155 single base substitution T C synonymous_variant K208K 624A>G LUSC-US 14 35295249 35295249 single base substitution G C downstream_gene_variant LUSC-US 14 35295249 35295249 single base substitution G C exon_variant LUSC-US 14 35295249 35295249 single base substitution G C stop_gained S169* 506C>G MALY-DE 14 35225835 35225835 single base substitution C G downstream_gene_variant MALY-DE 14 35225835 35225835 single base substitution C G intron_variant MALY-DE 14 35229609 35229609 single base substitution A G downstream_gene_variant MALY-DE 14 35229609 35229609 single base substitution A G intron_variant MALY-DE 14 35235047 35235047 single base substitution C A intron_variant MALY-DE 14 35235047 35235047 single base substitution C A upstream_gene_variant MALY-DE 14 35235073 35235073 single base substitution C T intron_variant MALY-DE 14 35235073 35235073 single base substitution C T upstream_gene_variant MALY-DE 14 35235974 35235974 single base substitution C T downstream_gene_variant MALY-DE 14 35235974 35235974 single base substitution C T intron_variant MALY-DE 14 35235974 35235974 single base substitution C T upstream_gene_variant MALY-DE 14 35236220 35236220 single base substitution G A downstream_gene_variant MALY-DE 14 35236220 35236220 single base substitution G A intron_variant MALY-DE 14 35237841 35237841 single base substitution A G downstream_gene_variant MALY-DE 14 35237841 35237841 single base substitution A G intron_variant MALY-DE 14 35241164 35241164 insertion of <=200bp - T intron_variant MALY-DE 14 35241164 35241164 insertion of <=200bp - T upstream_gene_variant MALY-DE 14 35251455 35251455 single base substitution G A downstream_gene_variant MALY-DE 14 35251455 35251455 single base substitution G A intron_variant MALY-DE 14 35253230 35253230 single base substitution T C intron_variant MALY-DE 14 35253230 35253230 single base substitution T C upstream_gene_variant MALY-DE 14 35255728 35255728 single base substitution A T exon_variant MALY-DE 14 35255728 35255728 single base substitution A T intron_variant MALY-DE 14 35255728 35255728 single base substitution A T upstream_gene_variant MALY-DE 14 35259388 35259388 single base substitution T C intron_variant MALY-DE 14 35259388 35259388 single base substitution T C upstream_gene_variant MALY-DE 14 35272041 35272041 single base substitution T G intron_variant MALY-DE 14 35281765 35281765 single base substitution C T intron_variant MALY-DE 14 35311775 35311775 single base substitution A G intron_variant MALY-DE 14 35311776 35311776 single base substitution A C intron_variant MALY-DE 14 35329803 35329803 single base substitution A T intron_variant MALY-DE 14 35343836 35343836 single base substitution G A 5_prime_UTR_variant MELA-AU 14 35217083 35217083 single base substitution G A downstream_gene_variant MELA-AU 14 35217482 35217482 single base substitution G A downstream_gene_variant MELA-AU 14 35217852 35217852 single base substitution T C downstream_gene_variant MELA-AU 14 35219489 35219489 single base substitution G A downstream_gene_variant MELA-AU 14 35220153 35220153 single base substitution G A downstream_gene_variant MELA-AU 14 35221468 35221468 single base substitution C T downstream_gene_variant MELA-AU 14 35223115 35223116 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 14 35223115 35223116 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 14 35223878 35223878 single base substitution A C downstream_gene_variant MELA-AU 14 35223878 35223878 single base substitution A C intron_variant MELA-AU 14 35225423 35225423 single base substitution G A downstream_gene_variant MELA-AU 14 35225423 35225423 single base substitution G A intron_variant MELA-AU 14 35226347 35226347 single base substitution G A downstream_gene_variant MELA-AU 14 35226347 35226347 single base substitution G A intron_variant MELA-AU 14 35226849 35226849 single base substitution G A downstream_gene_variant MELA-AU 14 35226849 35226849 single base substitution G A intron_variant MELA-AU 14 35227549 35227549 single base substitution G A downstream_gene_variant MELA-AU 14 35227549 35227549 single base substitution G A intron_variant MELA-AU 14 35227641 35227641 single base substitution C T downstream_gene_variant MELA-AU 14 35227641 35227641 single base substitution C T intron_variant MELA-AU 14 35228134 35228134 single base substitution C G intron_variant MELA-AU 14 35228494 35228494 single base substitution C T intron_variant MELA-AU 14 35228773 35228773 single base substitution A G intron_variant MELA-AU 14 35229117 35229117 single base substitution G T downstream_gene_variant MELA-AU 14 35229117 35229117 single base substitution G T intron_variant MELA-AU 14 35230076 35230076 single base substitution A T downstream_gene_variant MELA-AU 14 35230076 35230076 single base substitution A T intron_variant MELA-AU 14 35231423 35231423 single base substitution G A downstream_gene_variant MELA-AU 14 35231423 35231423 single base substitution G A synonymous_variant P1229P 3687C>T MELA-AU 14 35231423 35231423 single base substitution G A synonymous_variant P1261P 3783C>T MELA-AU 14 35231423 35231423 single base substitution G A upstream_gene_variant MELA-AU 14 35231555 35231555 single base substitution C T downstream_gene_variant MELA-AU 14 35231555 35231555 single base substitution C T intron_variant MELA-AU 14 35231555 35231555 single base substitution C T upstream_gene_variant MELA-AU 14 35231770 35231770 single base substitution C T downstream_gene_variant MELA-AU 14 35231770 35231770 single base substitution C T intron_variant MELA-AU 14 35231770 35231770 single base substitution C T upstream_gene_variant MELA-AU 14 35232009 35232009 single base substitution G A downstream_gene_variant MELA-AU 14 35232009 35232009 single base substitution G A intron_variant MELA-AU 14 35232009 35232009 single base substitution G A upstream_gene_variant MELA-AU 14 35232464 35232464 single base substitution G A downstream_gene_variant MELA-AU 14 35232464 35232464 single base substitution G A intron_variant MELA-AU 14 35232464 35232464 single base substitution G A upstream_gene_variant MELA-AU 14 35232651 35232651 single base substitution G A downstream_gene_variant MELA-AU 14 35232651 35232651 single base substitution G A intron_variant MELA-AU 14 35232651 35232651 single base substitution G A upstream_gene_variant MELA-AU 14 35233237 35233237 single base substitution G A downstream_gene_variant MELA-AU 14 35233237 35233237 single base substitution G A intron_variant MELA-AU 14 35233237 35233237 single base substitution G A upstream_gene_variant MELA-AU 14 35234364 35234364 single base substitution G A 3_prime_UTR_variant MELA-AU 14 35234364 35234364 single base substitution G A missense_variant R1106C 3316C>T MELA-AU 14 35234364 35234364 single base substitution G A missense_variant R1138C 3412C>T MELA-AU 14 35234364 35234364 single base substitution G A upstream_gene_variant MELA-AU 14 35235028 35235028 single base substitution G A intron_variant MELA-AU 14 35235028 35235028 single base substitution G A upstream_gene_variant MELA-AU 14 35235381 35235381 single base substitution C T downstream_gene_variant MELA-AU 14 35235381 35235381 single base substitution C T intron_variant MELA-AU 14 35235381 35235381 single base substitution C T upstream_gene_variant MELA-AU 14 35237025 35237025 single base substitution A T downstream_gene_variant MELA-AU 14 35237025 35237025 single base substitution A T intron_variant MELA-AU 14 35237434 35237434 single base substitution T C downstream_gene_variant MELA-AU 14 35237434 35237434 single base substitution T C intron_variant MELA-AU 14 35238123 35238123 single base substitution G A downstream_gene_variant MELA-AU 14 35238123 35238123 single base substitution G A intron_variant MELA-AU 14 35238276 35238276 single base substitution G A downstream_gene_variant MELA-AU 14 35238276 35238276 single base substitution G A intron_variant MELA-AU 14 35238551 35238551 insertion of <=200bp - A downstream_gene_variant MELA-AU 14 35238551 35238551 insertion of <=200bp - A intron_variant MELA-AU 14 35239246 35239246 single base substitution G A downstream_gene_variant MELA-AU 14 35239246 35239246 single base substitution G A intron_variant MELA-AU 14 35239312 35239312 single base substitution G T downstream_gene_variant MELA-AU 14 35239312 35239312 single base substitution G T intron_variant MELA-AU 14 35239502 35239502 single base substitution G A downstream_gene_variant MELA-AU 14 35239502 35239502 single base substitution G A intron_variant MELA-AU 14 35240303 35240303 single base substitution G A downstream_gene_variant MELA-AU 14 35240303 35240303 single base substitution G A intron_variant MELA-AU 14 35241512 35241512 single base substitution G A intron_variant MELA-AU 14 35241512 35241512 single base substitution G A upstream_gene_variant MELA-AU 14 35241683 35241683 single base substitution A T intron_variant MELA-AU 14 35241683 35241683 single base substitution A T upstream_gene_variant MELA-AU 14 35242055 35242055 single base substitution G A intron_variant MELA-AU 14 35242055 35242055 single base substitution G A upstream_gene_variant MELA-AU 14 35242075 35242075 single base substitution A T intron_variant MELA-AU 14 35242075 35242075 single base substitution A T upstream_gene_variant MELA-AU 14 35243362 35243362 single base substitution G A intron_variant MELA-AU 14 35243362 35243362 single base substitution G A upstream_gene_variant MELA-AU 14 35243526 35243526 single base substitution T G splice_region_variant MELA-AU 14 35243526 35243526 single base substitution T G upstream_gene_variant MELA-AU 14 35245072 35245072 single base substitution C T downstream_gene_variant MELA-AU 14 35245072 35245072 single base substitution C T intron_variant MELA-AU 14 35245072 35245072 single base substitution C T upstream_gene_variant MELA-AU 14 35246069 35246070 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 14 35246069 35246070 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 14 35246069 35246070 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 14 35246289 35246289 single base substitution C T downstream_gene_variant MELA-AU 14 35246289 35246289 single base substitution C T intron_variant MELA-AU 14 35246289 35246289 single base substitution C T upstream_gene_variant MELA-AU 14 35246604 35246604 single base substitution C T downstream_gene_variant MELA-AU 14 35246604 35246604 single base substitution C T intron_variant MELA-AU 14 35246604 35246604 single base substitution C T upstream_gene_variant MELA-AU 14 35246747 35246747 single base substitution G A downstream_gene_variant MELA-AU 14 35246747 35246747 single base substitution G A intron_variant MELA-AU 14 35246747 35246747 single base substitution G A upstream_gene_variant MELA-AU 14 35246827 35246828 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 14 35246827 35246828 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 14 35246827 35246828 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 14 35246829 35246829 single base substitution G A downstream_gene_variant MELA-AU 14 35246829 35246829 single base substitution G A intron_variant MELA-AU 14 35246829 35246829 single base substitution G A upstream_gene_variant MELA-AU 14 35247380 35247380 single base substitution G A downstream_gene_variant MELA-AU 14 35247380 35247380 single base substitution G A intron_variant MELA-AU 14 35247380 35247380 single base substitution G A upstream_gene_variant MELA-AU 14 35248085 35248086 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 14 35248085 35248086 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 14 35248952 35248952 single base substitution G A downstream_gene_variant MELA-AU 14 35248952 35248952 single base substitution G A intron_variant MELA-AU 14 35249766 35249766 single base substitution G A downstream_gene_variant MELA-AU 14 35249766 35249766 single base substitution G A intron_variant MELA-AU 14 35250209 35250209 single base substitution G A downstream_gene_variant MELA-AU 14 35250209 35250209 single base substitution G A intron_variant MELA-AU 14 35253240 35253240 single base substitution G A intron_variant MELA-AU 14 35253240 35253240 single base substitution G A upstream_gene_variant MELA-AU 14 35253484 35253484 single base substitution G A intron_variant MELA-AU 14 35253484 35253484 single base substitution G A upstream_gene_variant MELA-AU 14 35256779 35256779 single base substitution C T intron_variant MELA-AU 14 35256779 35256779 single base substitution C T upstream_gene_variant MELA-AU 14 35256857 35256857 single base substitution C T intron_variant MELA-AU 14 35256857 35256857 single base substitution C T upstream_gene_variant MELA-AU 14 35257530 35257530 single base substitution G A intron_variant MELA-AU 14 35257530 35257530 single base substitution G A upstream_gene_variant MELA-AU 14 35257590 35257590 single base substitution A G intron_variant MELA-AU 14 35257590 35257590 single base substitution A G upstream_gene_variant MELA-AU 14 35257941 35257941 single base substitution T C intron_variant MELA-AU 14 35257941 35257941 single base substitution T C upstream_gene_variant MELA-AU 14 35258527 35258527 single base substitution G A intron_variant MELA-AU 14 35258527 35258527 single base substitution G A upstream_gene_variant MELA-AU 14 35258983 35258983 single base substitution C G intron_variant MELA-AU 14 35258983 35258983 single base substitution C G upstream_gene_variant MELA-AU 14 35259017 35259017 single base substitution G A intron_variant MELA-AU 14 35259017 35259017 single base substitution G A upstream_gene_variant MELA-AU 14 35259304 35259305 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 14 35259304 35259305 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 14 35259347 35259347 single base substitution C T intron_variant MELA-AU 14 35259347 35259347 single base substitution C T upstream_gene_variant MELA-AU 14 35259608 35259608 single base substitution G A intron_variant MELA-AU 14 35259608 35259608 single base substitution G A upstream_gene_variant MELA-AU 14 35260338 35260338 single base substitution A G intron_variant MELA-AU 14 35260338 35260338 single base substitution A G upstream_gene_variant MELA-AU 14 35260903 35260903 single base substitution C T intron_variant MELA-AU 14 35261252 35261252 single base substitution G A intron_variant MELA-AU 14 35261483 35261483 single base substitution C T intron_variant MELA-AU 14 35262435 35262435 single base substitution T C intron_variant MELA-AU 14 35264138 35264138 single base substitution G A intron_variant MELA-AU 14 35264462 35264462 single base substitution G A intron_variant MELA-AU 14 35264474 35264474 single base substitution A T intron_variant MELA-AU 14 35265371 35265371 single base substitution T C intron_variant MELA-AU 14 35265635 35265635 single base substitution G A intron_variant MELA-AU 14 35266231 35266231 single base substitution G A intron_variant MELA-AU 14 35267322 35267322 single base substitution G A intron_variant MELA-AU 14 35268292 35268292 single base substitution G A intron_variant MELA-AU 14 35268462 35268462 single base substitution G A intron_variant MELA-AU 14 35270633 35270633 single base substitution G A intron_variant MELA-AU 14 35270993 35270993 single base substitution C A intron_variant MELA-AU 14 35272347 35272347 single base substitution G A intron_variant MELA-AU 14 35272353 35272353 single base substitution G A intron_variant MELA-AU 14 35273073 35273073 single base substitution A G intron_variant MELA-AU 14 35273076 35273076 single base substitution A T intron_variant MELA-AU 14 35273640 35273640 single base substitution G A intron_variant MELA-AU 14 35273805 35273805 single base substitution A G intron_variant MELA-AU 14 35274481 35274481 single base substitution A C intron_variant MELA-AU 14 35274515 35274515 single base substitution G A intron_variant MELA-AU 14 35274536 35274536 single base substitution T G intron_variant MELA-AU 14 35275710 35275710 single base substitution G A downstream_gene_variant MELA-AU 14 35275710 35275710 single base substitution G A intron_variant MELA-AU 14 35275941 35275941 single base substitution A C downstream_gene_variant MELA-AU 14 35275941 35275941 single base substitution A C intron_variant MELA-AU 14 35276147 35276147 single base substitution G A downstream_gene_variant MELA-AU 14 35276147 35276147 single base substitution G A intron_variant MELA-AU 14 35276223 35276223 single base substitution A T downstream_gene_variant MELA-AU 14 35276223 35276223 single base substitution A T intron_variant MELA-AU 14 35276915 35276915 single base substitution G C downstream_gene_variant MELA-AU 14 35276915 35276915 single base substitution G C intron_variant MELA-AU 14 35277110 35277110 single base substitution G A downstream_gene_variant MELA-AU 14 35277110 35277110 single base substitution G A intron_variant MELA-AU 14 35277511 35277511 deletion of <=200bp C - downstream_gene_variant MELA-AU 14 35277511 35277511 deletion of <=200bp C - intron_variant MELA-AU 14 35278423 35278423 single base substitution G A downstream_gene_variant MELA-AU 14 35278423 35278423 single base substitution G A intron_variant MELA-AU 14 35278697 35278697 single base substitution G A downstream_gene_variant MELA-AU 14 35278697 35278697 single base substitution G A intron_variant MELA-AU 14 35278973 35278973 single base substitution G A downstream_gene_variant MELA-AU 14 35278973 35278973 single base substitution G A intron_variant MELA-AU 14 35280870 35280870 single base substitution A C intron_variant MELA-AU 14 35281273 35281273 single base substitution G A intron_variant MELA-AU 14 35281407 35281407 single base substitution G A intron_variant MELA-AU 14 35281482 35281482 single base substitution G A intron_variant MELA-AU 14 35281713 35281713 single base substitution G A intron_variant MELA-AU 14 35281760 35281760 single base substitution G A intron_variant MELA-AU 14 35282012 35282012 single base substitution G A intron_variant MELA-AU 14 35282929 35282929 single base substitution G A intron_variant MELA-AU 14 35284201 35284201 single base substitution G A intron_variant MELA-AU 14 35285956 35285956 single base substitution G A 3_prime_UTR_variant MELA-AU 14 35285956 35285956 single base substitution G A intron_variant MELA-AU 14 35286131 35286131 single base substitution T A intron_variant MELA-AU 14 35286933 35286933 single base substitution C T intron_variant MELA-AU 14 35286968 35286968 single base substitution G A intron_variant MELA-AU 14 35286998 35286998 single base substitution T C intron_variant MELA-AU 14 35287541 35287541 single base substitution G A intron_variant MELA-AU 14 35289054 35289054 single base substitution A G intron_variant MELA-AU 14 35289317 35289317 single base substitution T C intron_variant MELA-AU 14 35289796 35289796 single base substitution G C intron_variant MELA-AU 14 35289989 35289989 single base substitution T G intron_variant MELA-AU 14 35290988 35290988 single base substitution C T intron_variant MELA-AU 14 35291909 35291909 single base substitution G A intron_variant MELA-AU 14 35291934 35291934 single base substitution G A intron_variant MELA-AU 14 35291958 35291958 single base substitution G A intron_variant MELA-AU 14 35292511 35292511 single base substitution G A intron_variant MELA-AU 14 35292855 35292855 single base substitution G A downstream_gene_variant MELA-AU 14 35292855 35292855 single base substitution G A intron_variant MELA-AU 14 35293589 35293589 single base substitution A C downstream_gene_variant MELA-AU 14 35293589 35293589 single base substitution A C intron_variant MELA-AU 14 35294444 35294444 single base substitution G A downstream_gene_variant MELA-AU 14 35294444 35294444 single base substitution G A intron_variant MELA-AU 14 35295269 35295269 single base substitution G A downstream_gene_variant MELA-AU 14 35295269 35295269 single base substitution G A exon_variant MELA-AU 14 35295269 35295269 single base substitution G A synonymous_variant I162I 486C>T MELA-AU 14 35295510 35295510 single base substitution C A downstream_gene_variant MELA-AU 14 35295510 35295510 single base substitution C A intron_variant MELA-AU 14 35296555 35296555 single base substitution C T downstream_gene_variant MELA-AU 14 35296555 35296555 single base substitution C T intron_variant MELA-AU 14 35296731 35296731 single base substitution G A downstream_gene_variant MELA-AU 14 35296731 35296731 single base substitution G A intron_variant MELA-AU 14 35297213 35297213 single base substitution T C downstream_gene_variant MELA-AU 14 35297213 35297213 single base substitution T C intron_variant MELA-AU 14 35297360 35297360 single base substitution G C downstream_gene_variant MELA-AU 14 35297360 35297360 single base substitution G C intron_variant MELA-AU 14 35297423 35297423 single base substitution C T downstream_gene_variant MELA-AU 14 35297423 35297423 single base substitution C T intron_variant MELA-AU 14 35299574 35299574 single base substitution A G intron_variant MELA-AU 14 35299723 35299723 single base substitution G A intron_variant MELA-AU 14 35300766 35300766 single base substitution C T intron_variant MELA-AU 14 35301017 35301017 insertion of <=200bp - A intron_variant MELA-AU 14 35301776 35301776 single base substitution C A intron_variant MELA-AU 14 35301782 35301782 single base substitution G A intron_variant MELA-AU 14 35301869 35301869 single base substitution T G intron_variant MELA-AU 14 35302815 35302815 single base substitution G A intron_variant MELA-AU 14 35303284 35303284 single base substitution T C intron_variant MELA-AU 14 35303383 35303383 single base substitution G A intron_variant MELA-AU 14 35304050 35304050 single base substitution A G intron_variant MELA-AU 14 35304745 35304745 single base substitution G A intron_variant MELA-AU 14 35305204 35305204 single base substitution G A intron_variant MELA-AU 14 35306249 35306249 single base substitution G A intron_variant MELA-AU 14 35306582 35306582 single base substitution G A intron_variant MELA-AU 14 35308309 35308309 single base substitution G A intron_variant MELA-AU 14 35309204 35309204 single base substitution G A intron_variant MELA-AU 14 35309731 35309731 single base substitution G A intron_variant MELA-AU 14 35309756 35309756 single base substitution G A intron_variant MELA-AU 14 35310123 35310123 single base substitution A C intron_variant MELA-AU 14 35310162 35310162 single base substitution T A intron_variant MELA-AU 14 35311610 35311610 single base substitution G A intron_variant MELA-AU 14 35313126 35313126 single base substitution A T intron_variant MELA-AU 14 35313613 35313613 single base substitution G A intron_variant MELA-AU 14 35314615 35314615 single base substitution C T intron_variant MELA-AU 14 35314762 35314762 single base substitution T C intron_variant MELA-AU 14 35315499 35315499 single base substitution A T intron_variant MELA-AU 14 35316112 35316112 single base substitution T A intron_variant MELA-AU 14 35316590 35316590 single base substitution A G intron_variant MELA-AU 14 35318328 35318328 single base substitution C T intron_variant MELA-AU 14 35318355 35318355 single base substitution G A intron_variant MELA-AU 14 35319375 35319375 single base substitution G A intron_variant MELA-AU 14 35320433 35320433 single base substitution G A intron_variant MELA-AU 14 35320958 35320958 single base substitution G A intron_variant MELA-AU 14 35321686 35321687 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 14 35321739 35321739 single base substitution G A intron_variant MELA-AU 14 35322343 35322343 single base substitution G A intron_variant MELA-AU 14 35322375 35322375 single base substitution G A intron_variant MELA-AU 14 35322598 35322598 single base substitution G A intron_variant MELA-AU 14 35323230 35323230 single base substitution G A intron_variant MELA-AU 14 35323290 35323290 single base substitution G A intron_variant MELA-AU 14 35323317 35323317 single base substitution G A intron_variant MELA-AU 14 35323555 35323555 single base substitution G A intron_variant MELA-AU 14 35324008 35324008 single base substitution C T intron_variant MELA-AU 14 35325144 35325144 single base substitution T C intron_variant MELA-AU 14 35325481 35325481 single base substitution G A intron_variant MELA-AU 14 35326646 35326646 single base substitution G A intron_variant MELA-AU 14 35327874 35327874 single base substitution G A intron_variant MELA-AU 14 35328240 35328240 single base substitution G A intron_variant MELA-AU 14 35329177 35329177 single base substitution G A intron_variant MELA-AU 14 35330151 35330151 single base substitution A T intron_variant MELA-AU 14 35330318 35330318 single base substitution A G intron_variant MELA-AU 14 35330501 35330501 single base substitution G A intron_variant MELA-AU 14 35330846 35330846 single base substitution G A intron_variant MELA-AU 14 35332448 35332448 single base substitution A G intron_variant MELA-AU 14 35332448 35332448 single base substitution A G upstream_gene_variant MELA-AU 14 35332638 35332638 single base substitution G A intron_variant MELA-AU 14 35332638 35332638 single base substitution G A upstream_gene_variant MELA-AU 14 35333165 35333165 single base substitution G A intron_variant MELA-AU 14 35333165 35333165 single base substitution G A upstream_gene_variant MELA-AU 14 35335037 35335037 single base substitution C T intron_variant MELA-AU 14 35335037 35335037 single base substitution C T upstream_gene_variant MELA-AU 14 35335300 35335300 single base substitution G A intron_variant MELA-AU 14 35335300 35335300 single base substitution G A upstream_gene_variant MELA-AU 14 35335463 35335463 single base substitution G A intron_variant MELA-AU 14 35335463 35335463 single base substitution G A upstream_gene_variant MELA-AU 14 35335482 35335482 single base substitution G A intron_variant MELA-AU 14 35335482 35335482 single base substitution G A upstream_gene_variant MELA-AU 14 35335894 35335894 single base substitution G A intron_variant MELA-AU 14 35335894 35335894 single base substitution G A upstream_gene_variant MELA-AU 14 35336065 35336065 single base substitution A T intron_variant MELA-AU 14 35336065 35336065 single base substitution A T upstream_gene_variant MELA-AU 14 35336332 35336332 single base substitution G A intron_variant MELA-AU 14 35336332 35336332 single base substitution G A upstream_gene_variant MELA-AU 14 35336682 35336682 single base substitution G A intron_variant MELA-AU 14 35337369 35337369 single base substitution G A intron_variant MELA-AU 14 35337592 35337592 single base substitution G A intron_variant MELA-AU 14 35337666 35337666 single base substitution A G intron_variant MELA-AU 14 35337864 35337864 single base substitution G A intron_variant MELA-AU 14 35338122 35338122 single base substitution G A intron_variant MELA-AU 14 35338124 35338124 single base substitution G A intron_variant MELA-AU 14 35339887 35339887 single base substitution G A intron_variant MELA-AU 14 35340942 35340942 single base substitution G A intron_variant MELA-AU 14 35341657 35341657 single base substitution A G intron_variant MELA-AU 14 35341659 35341659 single base substitution A T intron_variant MELA-AU 14 35343771 35343771 single base substitution G A missense_variant P14S 40C>T MELA-AU 14 35345644 35345644 deletion of <=200bp A - upstream_gene_variant MELA-AU 14 35345648 35345648 single base substitution T G upstream_gene_variant MELA-AU 14 35345700 35345700 single base substitution T A upstream_gene_variant MELA-AU 14 35346399 35346399 single base substitution G A upstream_gene_variant MELA-AU 14 35347233 35347233 single base substitution G A upstream_gene_variant MELA-AU 14 35348324 35348324 single base substitution C T upstream_gene_variant MELA-AU 14 35348398 35348398 single base substitution G A upstream_gene_variant MELA-AU 14 35348430 35348430 single base substitution G A upstream_gene_variant MELA-AU 14 35348517 35348517 single base substitution G A upstream_gene_variant MELA-AU 14 35348784 35348784 single base substitution C T upstream_gene_variant MELA-AU 14 35349040 35349040 single base substitution C T upstream_gene_variant MELA-AU 14 35349064 35349064 single base substitution C T upstream_gene_variant MELA-AU 14 35349096 35349096 single base substitution G T upstream_gene_variant MELA-AU 14 35349547 35349547 single base substitution A T upstream_gene_variant ORCA-IN 14 35224050 35224050 single base substitution C A 3_prime_UTR_variant ORCA-IN 14 35224050 35224050 single base substitution C A downstream_gene_variant ORCA-IN 14 35224050 35224050 single base substitution C A missense_variant C1454F 4361G>T ORCA-IN 14 35224050 35224050 single base substitution C A missense_variant C1486F 4457G>T ORCA-IN 14 35262846 35262846 single base substitution C G intron_variant ORCA-IN 14 35270659 35270659 single base substitution G A intron_variant ORCA-IN 14 35328863 35328863 single base substitution C G intron_variant ORCA-IN 14 35334223 35334223 single base substitution C G intron_variant ORCA-IN 14 35334223 35334223 single base substitution C G upstream_gene_variant ORCA-IN 14 35346952 35346952 single base substitution T A upstream_gene_variant OV-AU 14 35216993 35216993 single base substitution C G downstream_gene_variant OV-AU 14 35217166 35217166 single base substitution A C downstream_gene_variant OV-AU 14 35225980 35225980 single base substitution T C downstream_gene_variant OV-AU 14 35225980 35225980 single base substitution T C intron_variant OV-AU 14 35233268 35233268 single base substitution G C downstream_gene_variant OV-AU 14 35233268 35233268 single base substitution G C intron_variant OV-AU 14 35233268 35233268 single base substitution G C upstream_gene_variant OV-AU 14 35233739 35233739 single base substitution C T downstream_gene_variant OV-AU 14 35233739 35233739 single base substitution C T intron_variant OV-AU 14 35233739 35233739 single base substitution C T upstream_gene_variant OV-AU 14 35234772 35234772 single base substitution T C intron_variant OV-AU 14 35234772 35234772 single base substitution T C upstream_gene_variant OV-AU 14 35240753 35240753 single base substitution G C exon_variant OV-AU 14 35240753 35240753 single base substitution G C missense_variant Q1057E 3169C>G OV-AU 14 35240753 35240753 single base substitution G C missense_variant Q1089E 3265C>G OV-AU 14 35243017 35243017 single base substitution C T intron_variant OV-AU 14 35243017 35243017 single base substitution C T upstream_gene_variant OV-AU 14 35251562 35251562 single base substitution T C downstream_gene_variant OV-AU 14 35251562 35251562 single base substitution T C intron_variant OV-AU 14 35258977 35258977 single base substitution G C intron_variant OV-AU 14 35258977 35258977 single base substitution G C upstream_gene_variant OV-AU 14 35262595 35262595 single base substitution C T intron_variant OV-AU 14 35269787 35269787 single base substitution T C intron_variant OV-AU 14 35270772 35270772 single base substitution G A intron_variant OV-AU 14 35274970 35274970 single base substitution A G intron_variant OV-AU 14 35276813 35276813 single base substitution C A downstream_gene_variant OV-AU 14 35276813 35276813 single base substitution C A intron_variant OV-AU 14 35279649 35279649 single base substitution A G downstream_gene_variant OV-AU 14 35279649 35279649 single base substitution A G intron_variant OV-AU 14 35291839 35291839 single base substitution C T intron_variant OV-AU 14 35299202 35299202 single base substitution T C intron_variant OV-AU 14 35306362 35306362 single base substitution A G intron_variant OV-AU 14 35306737 35306737 single base substitution G C intron_variant OV-AU 14 35310494 35310494 single base substitution C T intron_variant OV-AU 14 35315229 35315229 single base substitution C T intron_variant OV-AU 14 35333251 35333251 single base substitution C A intron_variant OV-AU 14 35333251 35333251 single base substitution C A upstream_gene_variant OV-AU 14 35341703 35341703 single base substitution G A intron_variant OV-AU 14 35346052 35346052 single base substitution C T upstream_gene_variant OV-US 14 35331430 35331430 single base substitution T A exon_variant OV-US 14 35331430 35331430 single base substitution T A missense_variant E71V 212A>T OV-US 14 35331430 35331430 single base substitution T A upstream_gene_variant PACA-AU 14 35217593 35217593 deletion of <=200bp G - downstream_gene_variant PACA-AU 14 35221627 35221627 single base substitution A G downstream_gene_variant PACA-AU 14 35226159 35226159 single base substitution G A downstream_gene_variant PACA-AU 14 35226159 35226159 single base substitution G A intron_variant PACA-AU 14 35229333 35229333 single base substitution C A downstream_gene_variant PACA-AU 14 35229333 35229333 single base substitution C A intron_variant PACA-AU 14 35239495 35239495 single base substitution G T downstream_gene_variant PACA-AU 14 35239495 35239495 single base substitution G T intron_variant PACA-AU 14 35243487 35243487 single base substitution T A intron_variant PACA-AU 14 35243487 35243487 single base substitution T A upstream_gene_variant PACA-AU 14 35243960 35243960 single base substitution C T intron_variant PACA-AU 14 35243960 35243960 single base substitution C T upstream_gene_variant PACA-AU 14 35249719 35249719 single base substitution T C downstream_gene_variant PACA-AU 14 35249719 35249719 single base substitution T C intron_variant PACA-AU 14 35250637 35250637 single base substitution C T downstream_gene_variant PACA-AU 14 35250637 35250637 single base substitution C T intron_variant PACA-AU 14 35262400 35262400 single base substitution G A intron_variant PACA-AU 14 35265397 35265397 single base substitution C T intron_variant PACA-AU 14 35267069 35267069 single base substitution C T intron_variant PACA-AU 14 35281463 35281463 single base substitution A G intron_variant PACA-AU 14 35289194 35289196 deletion of <=200bp ATT - intron_variant PACA-AU 14 35290147 35290147 single base substitution C A intron_variant PACA-AU 14 35292967 35292968 deletion of <=200bp TG - downstream_gene_variant PACA-AU 14 35292967 35292968 deletion of <=200bp TG - intron_variant PACA-AU 14 35296956 35296956 single base substitution A T downstream_gene_variant PACA-AU 14 35296956 35296956 single base substitution A T intron_variant PACA-AU 14 35323585 35323585 single base substitution G A intron_variant PACA-AU 14 35323934 35323934 single base substitution C A intron_variant PACA-AU 14 35323935 35323935 single base substitution T C intron_variant PACA-AU 14 35328007 35328007 single base substitution C G intron_variant PACA-AU 14 35330352 35330352 single base substitution A G intron_variant PACA-AU 14 35338432 35338432 insertion of <=200bp - C intron_variant PACA-AU 14 35340472 35340472 single base substitution C G intron_variant PACA-AU 14 35344527 35344527 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant PACA-AU 14 35344527 35344527 single base substitution G C upstream_gene_variant PACA-CA 14 35218462 35218462 single base substitution G A downstream_gene_variant PACA-CA 14 35228635 35228635 single base substitution G C intron_variant PACA-CA 14 35229959 35229959 single base substitution G A downstream_gene_variant PACA-CA 14 35229959 35229959 single base substitution G A intron_variant PACA-CA 14 35236740 35236740 single base substitution T G downstream_gene_variant PACA-CA 14 35236740 35236740 single base substitution T G intron_variant PACA-CA 14 35236980 35236980 single base substitution G A downstream_gene_variant PACA-CA 14 35236980 35236980 single base substitution G A intron_variant PACA-CA 14 35237556 35237556 single base substitution A G downstream_gene_variant PACA-CA 14 35237556 35237556 single base substitution A G intron_variant PACA-CA 14 35238216 35238216 single base substitution T C downstream_gene_variant PACA-CA 14 35238216 35238216 single base substitution T C intron_variant PACA-CA 14 35248573 35248573 single base substitution T C downstream_gene_variant PACA-CA 14 35248573 35248573 single base substitution T C intron_variant PACA-CA 14 35250982 35250982 single base substitution C T downstream_gene_variant PACA-CA 14 35250982 35250982 single base substitution C T intron_variant PACA-CA 14 35259153 35259153 single base substitution C T intron_variant PACA-CA 14 35259153 35259153 single base substitution C T upstream_gene_variant PACA-CA 14 35261455 35261455 single base substitution G A intron_variant PACA-CA 14 35263357 35263357 single base substitution C A intron_variant PACA-CA 14 35266387 35266387 deletion of <=200bp A - intron_variant PACA-CA 14 35267915 35267915 single base substitution G A intron_variant PACA-CA 14 35271155 35271155 single base substitution T A intron_variant PACA-CA 14 35272754 35272754 single base substitution A T intron_variant PACA-CA 14 35273041 35273041 single base substitution C A intron_variant PACA-CA 14 35275081 35275081 single base substitution A G intron_variant PACA-CA 14 35286758 35286758 single base substitution C T intron_variant PACA-CA 14 35290736 35290736 single base substitution T C intron_variant PACA-CA 14 35291611 35291611 single base substitution C A intron_variant PACA-CA 14 35298594 35298594 deletion of <=200bp A - intron_variant PACA-CA 14 35300706 35300706 single base substitution T A intron_variant PACA-CA 14 35300714 35300714 single base substitution A T intron_variant PACA-CA 14 35301394 35301397 deletion of <=200bp ATAT - intron_variant PACA-CA 14 35302390 35302390 single base substitution G T intron_variant PACA-CA 14 35303477 35303478 deletion of <=200bp AG - intron_variant PACA-CA 14 35303902 35303902 single base substitution A G intron_variant PACA-CA 14 35304023 35304023 insertion of <=200bp - A intron_variant PACA-CA 14 35305105 35305105 single base substitution G A intron_variant PACA-CA 14 35312175 35312175 single base substitution A G intron_variant PACA-CA 14 35313572 35313572 single base substitution A C intron_variant PACA-CA 14 35314363 35314363 single base substitution G C intron_variant PACA-CA 14 35317950 35317950 single base substitution C T intron_variant PACA-CA 14 35319396 35319396 single base substitution C T intron_variant PACA-CA 14 35322642 35322642 single base substitution T C intron_variant PACA-CA 14 35323843 35323843 single base substitution A G intron_variant PACA-CA 14 35325000 35325000 single base substitution G C intron_variant PACA-CA 14 35326459 35326459 single base substitution G T intron_variant PACA-CA 14 35332841 35332841 single base substitution T A intron_variant PACA-CA 14 35332841 35332841 single base substitution T A upstream_gene_variant PACA-CA 14 35336206 35336206 insertion of <=200bp - TA intron_variant PACA-CA 14 35336206 35336206 insertion of <=200bp - TA upstream_gene_variant PACA-CA 14 35340380 35340380 single base substitution A G intron_variant PACA-CA 14 35344492 35344492 single base substitution G A 5_prime_UTR_variant PACA-CA 14 35344492 35344492 single base substitution G A upstream_gene_variant PACA-CA 14 35344955 35344955 single base substitution T C upstream_gene_variant PACA-CA 14 35344957 35344957 single base substitution A G upstream_gene_variant PAEN-AU 14 35231197 35231197 single base substitution G A downstream_gene_variant PAEN-AU 14 35231197 35231197 single base substitution G A missense_variant R1305C 3913C>T PAEN-AU 14 35231197 35231197 single base substitution G A missense_variant R1337C 4009C>T PAEN-AU 14 35231197 35231197 single base substitution G A upstream_gene_variant PAEN-AU 14 35260342 35260342 single base substitution A T intron_variant PAEN-AU 14 35260342 35260342 single base substitution A T upstream_gene_variant PAEN-AU 14 35272364 35272364 single base substitution A G intron_variant PAEN-AU 14 35285494 35285494 single base substitution C T intron_variant PAEN-AU 14 35296329 35296329 single base substitution C A downstream_gene_variant PAEN-AU 14 35296329 35296329 single base substitution C A intron_variant PAEN-AU 14 35340027 35340027 single base substitution C T intron_variant PAEN-AU 14 35345870 35345870 single base substitution C A upstream_gene_variant PAEN-AU 14 35348410 35348410 single base substitution G A upstream_gene_variant PAEN-AU 14 35349139 35349139 single base substitution T C upstream_gene_variant PBCA-DE 14 35224552 35224552 single base substitution G T downstream_gene_variant PBCA-DE 14 35224552 35224552 single base substitution G T intron_variant PBCA-DE 14 35251113 35251113 single base substitution G A downstream_gene_variant PBCA-DE 14 35251113 35251113 single base substitution G A intron_variant PBCA-DE 14 35263171 35263171 deletion of <=200bp A - intron_variant PBCA-DE 14 35265367 35265367 single base substitution T C intron_variant PBCA-DE 14 35275811 35275811 single base substitution T A downstream_gene_variant PBCA-DE 14 35275811 35275811 single base substitution T A intron_variant PBCA-DE 14 35279509 35279509 single base substitution C T downstream_gene_variant PBCA-DE 14 35279509 35279509 single base substitution C T intron_variant PBCA-DE 14 35280673 35280673 insertion of <=200bp - T intron_variant PBCA-DE 14 35281432 35281432 deletion of <=200bp G - intron_variant PBCA-DE 14 35295234 35295234 single base substitution C G downstream_gene_variant PBCA-DE 14 35295234 35295234 single base substitution C G exon_variant PBCA-DE 14 35295234 35295234 single base substitution C G missense_variant C174S 521G>C PBCA-DE 14 35301398 35301399 deletion of <=200bp AC - intron_variant PBCA-DE 14 35311494 35311494 single base substitution G T intron_variant PBCA-DE 14 35314821 35314821 single base substitution C T intron_variant PBCA-DE 14 35330547 35330547 single base substitution T G intron_variant PBCA-DE 14 35333698 35333698 insertion of <=200bp - T intron_variant PBCA-DE 14 35333698 35333698 insertion of <=200bp - T upstream_gene_variant PBCA-DE 14 35338000 35338000 single base substitution C T intron_variant PRAD-CA 14 35221119 35221119 single base substitution G A downstream_gene_variant PRAD-CA 14 35243645 35243645 single base substitution T C missense_variant N930S 2789A>G PRAD-CA 14 35243645 35243645 single base substitution T C missense_variant N962S 2885A>G PRAD-CA 14 35243645 35243645 single base substitution T C upstream_gene_variant PRAD-CA 14 35289339 35289339 single base substitution T G intron_variant PRAD-CA 14 35302831 35302831 single base substitution A C intron_variant PRAD-CA 14 35315634 35315634 single base substitution T G intron_variant PRAD-UK 14 35222098 35222098 single base substitution G T 3_prime_UTR_variant PRAD-UK 14 35222098 35222098 single base substitution G T downstream_gene_variant PRAD-UK 14 35236385 35236385 single base substitution C A downstream_gene_variant PRAD-UK 14 35236385 35236385 single base substitution C A intron_variant PRAD-UK 14 35238319 35238319 single base substitution T C downstream_gene_variant PRAD-UK 14 35238319 35238319 single base substitution T C intron_variant PRAD-UK 14 35246383 35246383 single base substitution T C downstream_gene_variant PRAD-UK 14 35246383 35246383 single base substitution T C intron_variant PRAD-UK 14 35246383 35246383 single base substitution T C upstream_gene_variant PRAD-UK 14 35253263 35253263 single base substitution A G intron_variant PRAD-UK 14 35253263 35253263 single base substitution A G upstream_gene_variant PRAD-UK 14 35255366 35255366 single base substitution T C exon_variant PRAD-UK 14 35255366 35255366 single base substitution T C intron_variant PRAD-UK 14 35255366 35255366 single base substitution T C synonymous_variant A524A 1572A>G PRAD-UK 14 35255366 35255366 single base substitution T C upstream_gene_variant PRAD-UK 14 35296164 35296164 single base substitution T C downstream_gene_variant PRAD-UK 14 35296164 35296164 single base substitution T C intron_variant PRAD-UK 14 35314627 35314627 single base substitution A C intron_variant PRAD-UK 14 35334544 35334544 single base substitution T G intron_variant PRAD-UK 14 35334544 35334544 single base substitution T G upstream_gene_variant PRAD-UK 14 35342444 35342444 single base substitution A G intron_variant PRAD-UK 14 35347172 35347172 single base substitution A C upstream_gene_variant PRAD-US 14 35255348 35255348 single base substitution C T exon_variant PRAD-US 14 35255348 35255348 single base substitution C T intron_variant PRAD-US 14 35255348 35255348 single base substitution C T stop_gained W530* 1590G>A PRAD-US 14 35255348 35255348 single base substitution C T upstream_gene_variant PRAD-US 14 35331423 35331423 deletion of <=200bp T - exon_variant PRAD-US 14 35331423 35331423 deletion of <=200bp T - frameshift_variant K73 PRAD-US 14 35331423 35331423 deletion of <=200bp T - upstream_gene_variant READ-US 14 35222876 35222876 single base substitution C T 3_prime_UTR_variant READ-US 14 35222876 35222876 single base substitution C T downstream_gene_variant READ-US 14 35222876 35222876 single base substitution C T synonymous_variant S1471S 4413G>A READ-US 14 35222876 35222876 single base substitution C T synonymous_variant S1503S 4509G>A READ-US 14 35252365 35252365 single base substitution C G downstream_gene_variant READ-US 14 35252365 35252365 single base substitution C G exon_variant READ-US 14 35252365 35252365 single base substitution C G missense_variant E659Q 1975G>C READ-US 14 35252365 35252365 single base substitution C G missense_variant E691Q 2071G>C RECA-EU 14 35240468 35240468 single base substitution G A exon_variant RECA-EU 14 35240468 35240468 single base substitution G A intron_variant RECA-EU 14 35272223 35272223 single base substitution T C intron_variant RECA-EU 14 35287565 35287565 single base substitution G A intron_variant RECA-EU 14 35312347 35312347 single base substitution C T intron_variant RECA-EU 14 35329391 35329391 single base substitution G C intron_variant RECA-EU 14 35335704 35335704 single base substitution A G intron_variant RECA-EU 14 35335704 35335704 single base substitution A G upstream_gene_variant SKCA-BR 14 35221689 35221689 insertion of <=200bp - ATTAT downstream_gene_variant SKCA-BR 14 35225319 35225319 single base substitution T G downstream_gene_variant SKCA-BR 14 35225319 35225319 single base substitution T G intron_variant SKCA-BR 14 35225672 35225672 single base substitution A T downstream_gene_variant SKCA-BR 14 35225672 35225672 single base substitution A T intron_variant SKCA-BR 14 35226571 35226573 deletion of <=200bp CAA - downstream_gene_variant SKCA-BR 14 35226571 35226573 deletion of <=200bp CAA - intron_variant SKCA-BR 14 35226641 35226641 single base substitution T G downstream_gene_variant SKCA-BR 14 35226641 35226641 single base substitution T G intron_variant SKCA-BR 14 35228354 35228354 single base substitution A T intron_variant SKCA-BR 14 35228377 35228377 insertion of <=200bp - GTTTTTTTTTTTTGT intron_variant SKCA-BR 14 35229694 35229694 insertion of <=200bp - CT downstream_gene_variant SKCA-BR 14 35229694 35229694 insertion of <=200bp - CT intron_variant SKCA-BR 14 35230567 35230567 single base substitution G A downstream_gene_variant SKCA-BR 14 35230567 35230567 single base substitution G A intron_variant SKCA-BR 14 35236975 35236975 single base substitution G A downstream_gene_variant SKCA-BR 14 35236975 35236975 single base substitution G A intron_variant SKCA-BR 14 35241163 35241163 insertion of <=200bp - CT intron_variant SKCA-BR 14 35241163 35241163 insertion of <=200bp - CT upstream_gene_variant SKCA-BR 14 35241927 35241927 single base substitution G A intron_variant SKCA-BR 14 35241927 35241927 single base substitution G A upstream_gene_variant SKCA-BR 14 35248254 35248254 single base substitution G A downstream_gene_variant SKCA-BR 14 35248254 35248254 single base substitution G A intron_variant SKCA-BR 14 35248525 35248525 single base substitution G A downstream_gene_variant SKCA-BR 14 35248525 35248525 single base substitution G A intron_variant SKCA-BR 14 35252574 35252574 insertion of <=200bp - CT downstream_gene_variant SKCA-BR 14 35252574 35252574 insertion of <=200bp - CT intron_variant SKCA-BR 14 35253574 35253574 single base substitution A C intron_variant SKCA-BR 14 35253574 35253574 single base substitution A C upstream_gene_variant SKCA-BR 14 35255809 35255809 insertion of <=200bp - GTTT intron_variant SKCA-BR 14 35255809 35255809 insertion of <=200bp - GTTTT intron_variant SKCA-BR 14 35255809 35255809 insertion of <=200bp - GTTTT upstream_gene_variant SKCA-BR 14 35255809 35255809 insertion of <=200bp - GTTT upstream_gene_variant SKCA-BR 14 35256431 35256431 single base substitution T C intron_variant SKCA-BR 14 35256431 35256431 single base substitution T C upstream_gene_variant SKCA-BR 14 35256491 35256491 single base substitution A G intron_variant SKCA-BR 14 35256491 35256491 single base substitution A G upstream_gene_variant SKCA-BR 14 35256569 35256569 insertion of <=200bp - AAAAAAAGAAAAG intron_variant SKCA-BR 14 35256569 35256569 insertion of <=200bp - AAAAAAAGAAAAG upstream_gene_variant SKCA-BR 14 35257703 35257703 single base substitution T G intron_variant SKCA-BR 14 35257703 35257703 single base substitution T G upstream_gene_variant SKCA-BR 14 35258851 35258851 single base substitution C T intron_variant SKCA-BR 14 35258851 35258851 single base substitution C T upstream_gene_variant SKCA-BR 14 35259661 35259661 single base substitution G A intron_variant SKCA-BR 14 35259661 35259661 single base substitution G A upstream_gene_variant SKCA-BR 14 35259662 35259662 single base substitution G A intron_variant SKCA-BR 14 35259662 35259662 single base substitution G A upstream_gene_variant SKCA-BR 14 35262250 35262250 single base substitution G A intron_variant SKCA-BR 14 35265371 35265371 insertion of <=200bp - TACACACACACAC intron_variant SKCA-BR 14 35265371 35265371 insertion of <=200bp - TACACAC intron_variant SKCA-BR 14 35267319 35267319 single base substitution A G intron_variant SKCA-BR 14 35267325 35267325 single base substitution A G intron_variant SKCA-BR 14 35271111 35271111 insertion of <=200bp - CAAA intron_variant SKCA-BR 14 35271898 35271898 single base substitution C T intron_variant SKCA-BR 14 35272586 35272586 insertion of <=200bp - GAA intron_variant SKCA-BR 14 35272586 35272586 insertion of <=200bp - GA intron_variant SKCA-BR 14 35274278 35274278 single base substitution A C intron_variant SKCA-BR 14 35275050 35275050 single base substitution A T intron_variant SKCA-BR 14 35275891 35275891 single base substitution G A downstream_gene_variant SKCA-BR 14 35275891 35275891 single base substitution G A intron_variant SKCA-BR 14 35277311 35277311 single base substitution G A downstream_gene_variant SKCA-BR 14 35277311 35277311 single base substitution G A intron_variant SKCA-BR 14 35277459 35277459 single base substitution G A downstream_gene_variant SKCA-BR 14 35277459 35277459 single base substitution G A intron_variant SKCA-BR 14 35278927 35278927 single base substitution A C downstream_gene_variant SKCA-BR 14 35278927 35278927 single base substitution A C intron_variant SKCA-BR 14 35284195 35284195 single base substitution G A intron_variant SKCA-BR 14 35288366 35288373 deletion of <=200bp AAAAAAAG - intron_variant SKCA-BR 14 35288373 35288373 single base substitution G A intron_variant SKCA-BR 14 35288803 35288803 single base substitution G A intron_variant SKCA-BR 14 35290480 35290480 single base substitution A G intron_variant SKCA-BR 14 35291907 35291907 single base substitution G A intron_variant SKCA-BR 14 35294078 35294078 single base substitution G T downstream_gene_variant SKCA-BR 14 35294078 35294078 single base substitution G T intron_variant SKCA-BR 14 35295044 35295044 single base substitution T C downstream_gene_variant SKCA-BR 14 35295044 35295044 single base substitution T C intron_variant SKCA-BR 14 35295807 35295807 single base substitution G A downstream_gene_variant SKCA-BR 14 35295807 35295807 single base substitution G A intron_variant SKCA-BR 14 35296162 35296162 single base substitution G A downstream_gene_variant SKCA-BR 14 35296162 35296162 single base substitution G A intron_variant SKCA-BR 14 35298622 35298622 single base substitution A T intron_variant SKCA-BR 14 35299726 35299727 deletion of <=200bp GA - intron_variant SKCA-BR 14 35301421 35301421 single base substitution C T intron_variant SKCA-BR 14 35301658 35301660 deletion of <=200bp CAA - intron_variant SKCA-BR 14 35303527 35303527 single base substitution C T intron_variant SKCA-BR 14 35313981 35313985 deletion of <=200bp GCGCA - intron_variant SKCA-BR 14 35313993 35313993 single base substitution A G intron_variant SKCA-BR 14 35317261 35317261 single base substitution T G intron_variant SKCA-BR 14 35318934 35318934 single base substitution G T intron_variant SKCA-BR 14 35320745 35320745 single base substitution G A intron_variant SKCA-BR 14 35321226 35321226 single base substitution G A intron_variant SKCA-BR 14 35321227 35321227 single base substitution G A intron_variant SKCA-BR 14 35322986 35322986 single base substitution C T intron_variant SKCA-BR 14 35327056 35327056 single base substitution C T intron_variant SKCA-BR 14 35327533 35327533 single base substitution G A intron_variant SKCA-BR 14 35328546 35328546 single base substitution G A intron_variant SKCA-BR 14 35335704 35335704 insertion of <=200bp - AAG intron_variant SKCA-BR 14 35335704 35335704 insertion of <=200bp - AAG upstream_gene_variant SKCA-BR 14 35335704 35335704 single base substitution A G intron_variant SKCA-BR 14 35335704 35335704 single base substitution A G upstream_gene_variant SKCA-BR 14 35335708 35335708 insertion of <=200bp - AAAAAAAA intron_variant SKCA-BR 14 35335708 35335708 insertion of <=200bp - AAAAAAAA upstream_gene_variant SKCA-BR 14 35336864 35336864 single base substitution T C intron_variant SKCA-BR 14 35342132 35342132 single base substitution A C intron_variant SKCA-BR 14 35342138 35342138 single base substitution A C intron_variant SKCA-BR 14 35343653 35343653 single base substitution G A intron_variant SKCA-BR 14 35344155 35344155 single base substitution T C intron_variant SKCA-BR 14 35344155 35344155 single base substitution T C upstream_gene_variant SKCA-BR 14 35345525 35345525 single base substitution C T upstream_gene_variant SKCA-BR 14 35346015 35346015 single base substitution G A upstream_gene_variant SKCA-BR 14 35346550 35346550 single base substitution G A upstream_gene_variant SKCA-BR 14 35348201 35348201 single base substitution T G upstream_gene_variant SKCA-BR 14 35349043 35349043 single base substitution C T upstream_gene_variant SKCM-US 14 35222877 35222877 single base substitution G A 3_prime_UTR_variant SKCM-US 14 35222877 35222877 single base substitution G A downstream_gene_variant SKCM-US 14 35222877 35222877 single base substitution G A missense_variant S1471L 4412C>T SKCM-US 14 35222877 35222877 single base substitution G A missense_variant S1503L 4508C>T SKCM-US 14 35224069 35224069 single base substitution G A 3_prime_UTR_variant SKCM-US 14 35224069 35224069 single base substitution G A downstream_gene_variant SKCM-US 14 35224069 35224069 single base substitution G A missense_variant R1448C 4342C>T SKCM-US 14 35224069 35224069 single base substitution G A missense_variant R1480C 4438C>T SKCM-US 14 35224118 35224118 single base substitution G A downstream_gene_variant SKCM-US 14 35224118 35224118 single base substitution G A splice_region_variant SKCM-US 14 35231092 35231092 single base substitution G A downstream_gene_variant SKCM-US 14 35231092 35231092 single base substitution G A exon_variant SKCM-US 14 35231092 35231092 single base substitution G A missense_variant P1340S 4018C>T SKCM-US 14 35231092 35231092 single base substitution G A missense_variant P1372S 4114C>T SKCM-US 14 35231092 35231092 single base substitution G A upstream_gene_variant SKCM-US 14 35234256 35234256 single base substitution G A 3_prime_UTR_variant SKCM-US 14 35234256 35234256 single base substitution G A missense_variant H1142Y 3424C>T SKCM-US 14 35234256 35234256 single base substitution G A missense_variant H1174Y 3520C>T SKCM-US 14 35234256 35234256 single base substitution G A upstream_gene_variant SKCM-US 14 35243540 35243540 single base substitution G A missense_variant A965V 2894C>T SKCM-US 14 35243540 35243540 single base substitution G A missense_variant A997V 2990C>T SKCM-US 14 35243540 35243540 single base substitution G A upstream_gene_variant SKCM-US 14 35245491 35245491 single base substitution G A downstream_gene_variant SKCM-US 14 35245491 35245491 single base substitution G A missense_variant L791F 2371C>T SKCM-US 14 35245491 35245491 single base substitution G A missense_variant L823F 2467C>T SKCM-US 14 35245491 35245491 single base substitution G A upstream_gene_variant SKCM-US 14 35253102 35253102 single base substitution A C exon_variant SKCM-US 14 35253102 35253102 single base substitution A C missense_variant C589W 1767T>G SKCM-US 14 35253102 35253102 single base substitution A C missense_variant C621W 1863T>G SKCM-US 14 35253105 35253105 single base substitution G A exon_variant SKCM-US 14 35253105 35253105 single base substitution G A synonymous_variant L588L 1764C>T SKCM-US 14 35253105 35253105 single base substitution G A synonymous_variant L620L 1860C>T SKCM-US 14 35254990 35254995 deletion of <=200bp CAAATC - exon_variant SKCM-US 14 35254990 35254995 deletion of <=200bp CAAATC - inframe_deletion DL575 SKCM-US 14 35254990 35254995 deletion of <=200bp CAAATC - inframe_deletion DL607 SKCM-US 14 35254990 35254995 deletion of <=200bp CAAATC - upstream_gene_variant SKCM-US 14 35255033 35255033 single base substitution G A exon_variant SKCM-US 14 35255033 35255033 single base substitution G A missense_variant P562L 1685C>T SKCM-US 14 35255033 35255033 single base substitution G A missense_variant P594L 1781C>T SKCM-US 14 35255033 35255033 single base substitution G A upstream_gene_variant SKCM-US 14 35255046 35255046 single base substitution G A exon_variant SKCM-US 14 35255046 35255046 single base substitution G A missense_variant R558C 1672C>T SKCM-US 14 35255046 35255046 single base substitution G A missense_variant R590C 1768C>T SKCM-US 14 35255046 35255046 single base substitution G A upstream_gene_variant SKCM-US 14 35263973 35263973 single base substitution G A missense_variant P449S 1345C>T SKCM-US 14 35264087 35264087 single base substitution G A missense_variant P411S 1231C>T SKCM-US 14 35270308 35270308 single base substitution T C missense_variant K318R 953A>G SKCM-US 14 35272177 35272177 single base substitution C T synonymous_variant T248T 744G>A STAD-US 14 35222777 35222777 single base substitution G A 3_prime_UTR_variant STAD-US 14 35222777 35222777 single base substitution G A downstream_gene_variant STAD-US 14 35222777 35222777 single base substitution G A synonymous_variant H1504H 4512C>T STAD-US 14 35222777 35222777 single base substitution G A synonymous_variant H1536H 4608C>T STAD-US 14 35222877 35222877 single base substitution G A 3_prime_UTR_variant STAD-US 14 35222877 35222877 single base substitution G A downstream_gene_variant STAD-US 14 35222877 35222877 single base substitution G A missense_variant S1471L 4412C>T STAD-US 14 35222877 35222877 single base substitution G A missense_variant S1503L 4508C>T STAD-US 14 35224069 35224069 single base substitution G A 3_prime_UTR_variant STAD-US 14 35224069 35224069 single base substitution G A downstream_gene_variant STAD-US 14 35224069 35224069 single base substitution G A missense_variant R1448C 4342C>T STAD-US 14 35224069 35224069 single base substitution G A missense_variant R1480C 4438C>T STAD-US 14 35227976 35227976 single base substitution T C exon_variant STAD-US 14 35227976 35227976 single base substitution T C intron_variant STAD-US 14 35227976 35227976 single base substitution T C synonymous_variant Q1408Q 4224A>G STAD-US 14 35227976 35227976 single base substitution T C synonymous_variant Q1440Q 4320A>G STAD-US 14 35231352 35231352 single base substitution C T downstream_gene_variant STAD-US 14 35231352 35231352 single base substitution C T missense_variant R1253H 3758G>A STAD-US 14 35231352 35231352 single base substitution C T missense_variant R1285H 3854G>A STAD-US 14 35231352 35231352 single base substitution C T upstream_gene_variant STAD-US 14 35234330 35234330 single base substitution G A 3_prime_UTR_variant STAD-US 14 35234330 35234330 single base substitution G A missense_variant A1117V 3350C>T STAD-US 14 35234330 35234330 single base substitution G A missense_variant A1149V 3446C>T STAD-US 14 35234330 35234330 single base substitution G A upstream_gene_variant STAD-US 14 35240741 35240741 single base substitution G A exon_variant STAD-US 14 35240741 35240741 single base substitution G A missense_variant R1061W 3181C>T STAD-US 14 35240741 35240741 single base substitution G A missense_variant R1093W 3277C>T STAD-US 14 35245128 35245128 insertion of <=200bp - A downstream_gene_variant STAD-US 14 35245128 35245128 insertion of <=200bp - A frameshift_variant S912F? STAD-US 14 35245128 35245128 insertion of <=200bp - A frameshift_variant S944F? STAD-US 14 35245128 35245128 insertion of <=200bp - A upstream_gene_variant STAD-US 14 35245412 35245412 single base substitution T C downstream_gene_variant STAD-US 14 35245412 35245412 single base substitution T C missense_variant Q817R 2450A>G STAD-US 14 35245412 35245412 single base substitution T C missense_variant Q849R 2546A>G STAD-US 14 35245412 35245412 single base substitution T C upstream_gene_variant STAD-US 14 35245571 35245571 single base substitution G A downstream_gene_variant STAD-US 14 35245571 35245571 single base substitution G A missense_variant A764V 2291C>T STAD-US 14 35245571 35245571 single base substitution G A missense_variant A796V 2387C>T STAD-US 14 35245571 35245571 single base substitution G A upstream_gene_variant STAD-US 14 35253125 35253125 deletion of <=200bp T - exon_variant STAD-US 14 35253125 35253125 deletion of <=200bp T - frameshift_variant M582 STAD-US 14 35253125 35253125 deletion of <=200bp T - frameshift_variant M614 STAD-US 14 35264077 35264077 single base substitution G T missense_variant T414K 1241C>A STAD-US 14 35264961 35264961 single base substitution T C missense_variant K380R 1139A>G STAD-US 14 35272177 35272177 single base substitution C T synonymous_variant T248T 744G>A STAD-US 14 35276669 35276669 single base substitution G A downstream_gene_variant STAD-US 14 35276669 35276669 single base substitution G A synonymous_variant V238V 714C>T STAD-US 14 35343708 35343708 deletion of <=200bp G - frameshift_variant R35 UCEC-US 14 35222876 35222876 single base substitution C T 3_prime_UTR_variant UCEC-US 14 35222876 35222876 single base substitution C T downstream_gene_variant UCEC-US 14 35222876 35222876 single base substitution C T synonymous_variant S1471S 4413G>A UCEC-US 14 35222876 35222876 single base substitution C T synonymous_variant S1503S 4509G>A UCEC-US 14 35224069 35224069 single base substitution G A 3_prime_UTR_variant UCEC-US 14 35224069 35224069 single base substitution G A downstream_gene_variant UCEC-US 14 35224069 35224069 single base substitution G A missense_variant R1448C 4342C>T UCEC-US 14 35224069 35224069 single base substitution G A missense_variant R1480C 4438C>T UCEC-US 14 35224069 35224069 single base substitution G T 3_prime_UTR_variant UCEC-US 14 35224069 35224069 single base substitution G T downstream_gene_variant UCEC-US 14 35224069 35224069 single base substitution G T missense_variant R1448S 4342C>A UCEC-US 14 35224069 35224069 single base substitution G T missense_variant R1480S 4438C>A UCEC-US 14 35231173 35231173 single base substitution C T downstream_gene_variant UCEC-US 14 35231173 35231173 single base substitution C T missense_variant A1313T 3937G>A UCEC-US 14 35231173 35231173 single base substitution C T missense_variant A1345T 4033G>A UCEC-US 14 35231173 35231173 single base substitution C T upstream_gene_variant UCEC-US 14 35233936 35233936 single base substitution G A downstream_gene_variant UCEC-US 14 35233936 35233936 single base substitution G A synonymous_variant D1219D 3657C>T UCEC-US 14 35233936 35233936 single base substitution G A synonymous_variant D1251D 3753C>T UCEC-US 14 35233936 35233936 single base substitution G A upstream_gene_variant UCEC-US 14 35233938 35233938 single base substitution C T downstream_gene_variant UCEC-US 14 35233938 35233938 single base substitution C T missense_variant D1219N 3655G>A UCEC-US 14 35233938 35233938 single base substitution C T missense_variant D1251N 3751G>A UCEC-US 14 35233938 35233938 single base substitution C T upstream_gene_variant UCEC-US 14 35233994 35233994 single base substitution T C downstream_gene_variant UCEC-US 14 35233994 35233994 single base substitution T C missense_variant D1200G 3599A>G UCEC-US 14 35233994 35233994 single base substitution T C missense_variant D1232G 3695A>G UCEC-US 14 35233994 35233994 single base substitution T C upstream_gene_variant UCEC-US 14 35243583 35243583 single base substitution G T missense_variant L951I 2851C>A UCEC-US 14 35243583 35243583 single base substitution G T missense_variant L983I 2947C>A UCEC-US 14 35243583 35243583 single base substitution G T upstream_gene_variant UCEC-US 14 35243589 35243589 single base substitution C A missense_variant D949Y 2845G>T UCEC-US 14 35243589 35243589 single base substitution C A missense_variant D981Y 2941G>T UCEC-US 14 35243589 35243589 single base substitution C A upstream_gene_variant UCEC-US 14 35243689 35243689 single base substitution A T synonymous_variant P915P 2745T>A UCEC-US 14 35243689 35243689 single base substitution A T synonymous_variant P947P 2841T>A UCEC-US 14 35243689 35243689 single base substitution A T upstream_gene_variant UCEC-US 14 35245200 35245200 single base substitution C T downstream_gene_variant UCEC-US 14 35245200 35245200 single base substitution C T missense_variant E888K 2662G>A UCEC-US 14 35245200 35245200 single base substitution C T missense_variant E920K 2758G>A UCEC-US 14 35245200 35245200 single base substitution C T upstream_gene_variant UCEC-US 14 35245464 35245464 single base substitution G T downstream_gene_variant UCEC-US 14 35245464 35245464 single base substitution G T missense_variant L800I 2398C>A UCEC-US 14 35245464 35245464 single base substitution G T missense_variant L832I 2494C>A UCEC-US 14 35245464 35245464 single base substitution G T upstream_gene_variant UCEC-US 14 35245491 35245491 single base substitution G A downstream_gene_variant UCEC-US 14 35245491 35245491 single base substitution G A missense_variant L791F 2371C>T UCEC-US 14 35245491 35245491 single base substitution G A missense_variant L823F 2467C>T UCEC-US 14 35245491 35245491 single base substitution G A upstream_gene_variant UCEC-US 14 35245552 35245552 single base substitution G T downstream_gene_variant UCEC-US 14 35245552 35245552 single base substitution G T synonymous_variant I770I 2310C>A UCEC-US 14 35245552 35245552 single base substitution G T synonymous_variant I802I 2406C>A UCEC-US 14 35245552 35245552 single base substitution G T upstream_gene_variant UCEC-US 14 35245608 35245608 single base substitution G A downstream_gene_variant UCEC-US 14 35245608 35245608 single base substitution G A stop_gained R752* 2254C>T UCEC-US 14 35245608 35245608 single base substitution G A stop_gained R784* 2350C>T UCEC-US 14 35245608 35245608 single base substitution G A upstream_gene_variant UCEC-US 14 35245691 35245691 single base substitution A C downstream_gene_variant UCEC-US 14 35245691 35245691 single base substitution A C missense_variant F724C 2171T>G UCEC-US 14 35245691 35245691 single base substitution A C missense_variant F756C 2267T>G UCEC-US 14 35245691 35245691 single base substitution A C upstream_gene_variant UCEC-US 14 35252434 35252434 single base substitution G A downstream_gene_variant UCEC-US 14 35252434 35252434 single base substitution G A exon_variant UCEC-US 14 35252434 35252434 single base substitution G A missense_variant R636C 1906C>T UCEC-US 14 35252434 35252434 single base substitution G A missense_variant R668C 2002C>T UCEC-US 14 35262020 35262020 single base substitution C A stop_gained E491* 1471G>T UCEC-US 14 35264955 35264955 single base substitution C T missense_variant R382H 1145G>A UCEC-US 14 35270332 35270332 single base substitution T C missense_variant K310R 929A>G UCEC-US 14 35270392 35270392 single base substitution T C missense_variant N290S 869A>G UCEC-US 14 35272178 35272178 single base substitution G A missense_variant T248M 743C>T UCEC-US 14 35280181 35280181 single base substitution C A 3_prime_UTR_variant UCEC-US 14 35280181 35280181 single base substitution C A stop_gained E200* 598G>T UCEC-US 14 35295280 35295280 single base substitution C A downstream_gene_variant UCEC-US 14 35295280 35295280 single base substitution C A exon_variant UCEC-US 14 35295280 35295280 single base substitution C A stop_gained E159* 475G>T UCEC-US 14 35331346 35331346 single base substitution G A exon_variant UCEC-US 14 35331346 35331346 single base substitution G A missense_variant S99L 296C>T UCEC-US 14 35331346 35331346 single base substitution G A upstream_gene_variant UCEC-US 14 35331481 35331481 single base substitution C T exon_variant UCEC-US 14 35331481 35331481 single base substitution C T missense_variant C54Y 161G>A UCEC-US 14 35331481 35331481 single base substitution C T upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-AO-A03M-01 COSM3814732 c.36G>A p.Q12Q Substitution - coding silent 14:34874569-34874569 - T18 COSM3753948 c.1335A>G p.Q445Q Substitution - coding silent 14:34794777-34794777 - HCC1008 COSM32529 c.4268delG p.R1423fs*21 Deletion - Frameshift 14:34758822-34758822 - TCGA-D1-A17M-01 COSM955451 c.4609G>A p.V1537I Substitution - Missense 14:34753570-34753570 - TCGA-24-1413-01 COSM73809 c.212A>T p.E71V Substitution - Missense 14:34862224-34862224 - PT33 COSM5909358 c.3620G>A p.R1207K Substitution - Missense 14:34764863-34764863 - PA254 COSM1162779 c.136C>G p.L46V Substitution - Missense 14:34862300-34862300 - BN37 COSM3706248 c.553A>G p.I185V Substitution - Missense 14:34811020-34811020 - TCGA-D1-A16Y-01 COSM955454 c.4438C>T p.R1480C Substitution - Missense 14:34754863-34754863 - TCGA-BR-6452-01 COSM4050626 c.1139A>G p.K380R Substitution - Missense 14:34795755-34795755 - TCGA-B5-A0JY-01 COSM955475 c.598G>T p.E200* Substitution - Nonsense 14:34810975-34810975 - Br27P COSM39870 c.1341G>A p.E447E Substitution - coding silent 14:34794771-34794771 - sysucc-880T COSM5462380 c.4283G>A p.R1428Q Substitution - Missense 14:34758807-34758807 - S02285 COSM5684538 c.224G>T p.R75I Substitution - Missense 14:34862212-34862212 - T3202 COSM4665208 c.2345A>G p.H782R Substitution - Missense 14:34776407-34776407 - ESCC_94 COSM5637364 c.2720C>G p.A907G Substitution - Missense 14:34776032-34776032 - DLBCL829 COSM1580559 c.3661A>G p.S1221G Substitution - Missense 14:34764822-34764822 - TCGA-CJ-6027-01 COSM469924 c.1248G>T p.V416V Substitution - coding silent 14:34794864-34794864 - Pat_41_B COSM5848049 c.178C>T p.P60S Substitution - Missense 14:34862258-34862258 - STC232 COSM5053928 c.1924C>T p.R642* Substitution - Nonsense 14:34783835-34783835 - DLBCL689 COSM1580558 c.4652C>T p.A1551V Substitution - Missense 14:34753527-34753527 - 353 COSM3720949 c.282C>T p.S94S Substitution - coding silent 14:34862154-34862154 - TCGA-FV-A3R3-01 COSM4921854 c.4085A>G p.K1362R Substitution - Missense 14:34761915-34761915 - CSCC-20-T COSM4540640 c.2873G>A p.G958E Substitution - Missense 14:34774451-34774451 - TCGA-BC-A3KF-01 COSM4927841 c.826A>G p.R276G Substitution - Missense 14:34802889-34802889 - TCGA-66-2785-01 COSM697917 c.1327G>C p.D443H Substitution - Missense 14:34794785-34794785 - T3118 COSM4665206 c.2568C>A p.S856S Substitution - coding silent 14:34776184-34776184 - CSCC-27-T COSM4445417 c.1225-3C>T p.? Unknown 14:34794890-34794890 - TCGA-BH-A0B4-01 COSM433031 c.4169C>T p.S1390F Substitution - Missense 14:34761831-34761831 - T3080 COSM4665207 c.2481G>T p.E827D Substitution - Missense 14:34776271-34776271 - TCGA-FW-A3R5-06 COSM955454 c.4438C>T p.R1480C Substitution - Missense 14:34754863-34754863 - TCGA-EE-A29G-06 COSM3495804 c.4114C>T p.P1372S Substitution - Missense 14:34761886-34761886 - Au8 COSM5606345 c.343C>T p.R115* Substitution - Nonsense 14:34862093-34862093 - LC_S11 COSM1188795 c.2642A>G p.Q881R Substitution - Missense 14:34776110-34776110 - 587376 COSM1184473 c.2819A>C p.K940T Substitution - Missense 14:34775933-34775933 - S02296 COSM5689398 c.189delG p.Y64fs*22 Deletion - Frameshift 14:34862247-34862247 - B89-4-Tumor COSM1748820 c.1467A>G p.E489E Substitution - coding silent 14:34792818-34792818 - TCGA-33-4532-01 COSM697921 c.3409G>C p.D1137H Substitution - Missense 14:34765161-34765161 - SNU-175 COSM2195887 c.2627G>A p.R876H Substitution - Missense 14:34776125-34776125 - CML037T COSM5802856 c.2242A>G p.R748G Substitution - Missense 14:34776510-34776510 - B65-Tumor COSM1748819 c.1651G>C p.E551Q Substitution - Missense 14:34785957-34785957 - BN42T COSM1607642 c.165T>C p.A55A Substitution - coding silent 14:34862271-34862271 - MZ7-mel COSM25442 c.491G>A p.S164N Substitution - Missense 14:34826058-34826058 - TCGA-AR-A2LE-01 COSM3814731 c.141C>T p.C47C Substitution - coding silent 14:34862295-34862295 - 2318492 COSM4777020 c.1915G>C p.D639H Substitution - Missense 14:34783844-34783844 - 2318491 COSM4776701 c.3736G>C p.E1246Q Substitution - Missense 14:34764747-34764747 - TCGA-DS-A0VM-01 COSM459180 c.2939G>C p.R980T Substitution - Missense 14:34774385-34774385 - TCGA-A8-A076-01 COSM433032 c.3244A>G p.M1082V Substitution - Missense 14:34771568-34771568 - TCGA-DM-A28F-01 COSM1369648 c.3764A>T p.E1255V Substitution - Missense 14:34764719-34764719 - BD173T COSM5500576 c.1652A>C p.E551A Substitution - Missense 14:34785956-34785956 - CSCC-29-T COSM4050624 c.2387C>T p.A796V Substitution - Missense 14:34776365-34776365 - LC_S44 COSM1188796 c.58C>G p.P20A Substitution - Missense 14:34874547-34874547 - TCGA-EE-A2MS-06 COSM3495807 c.1860C>T p.L620L Substitution - coding silent 14:34783899-34783899 - YUROS COSM5382220 c.3252C>T p.L1084L Substitution - coding silent 14:34771560-34771560 - UM-SCC-2 COSM4599434 c.1459G>A p.E487K Substitution - Missense 14:34792826-34792826 - PT52 COSM1707264 c.1768C>T p.R590C Substitution - Missense 14:34785840-34785840 - TCGA-EE-A183-06 COSM3495808 c.1345C>T p.P449S Substitution - Missense 14:34794767-34794767 - S0029 COSM5882495 c.1016A>C p.K339T Substitution - Missense 14:34800336-34800336 - AOCS-091-1-3 COSM3983237 c.3265C>G p.Q1089E Substitution - Missense 14:34771547-34771547 - S02299 COSM5690203 c.4081A>T p.R1361W Substitution - Missense 14:34761919-34761919 - TCGA-CG-5721-01 COSM4050624 c.2387C>T p.A796V Substitution - Missense 14:34776365-34776365 - CHC1186T COSM4803347 c.2734G>C p.G912R Substitution - Missense 14:34776018-34776018 - MB106X COSM88162 c.113+2T>G p.? Unknown 14:34874490-34874490 - YUKAT COSM5382223 c.1925G>A p.R642Q Substitution - Missense 14:34783834-34783834 - 2492713 COSM5606345 c.343C>T p.R115* Substitution - Nonsense 14:34862093-34862093 - TCGA-GC-A3YS-01 COSM3793673 c.4365G>C p.L1455F Substitution - Missense 14:34758725-34758725 - BN37T COSM3706248 c.553A>G p.I185V Substitution - Missense 14:34811020-34811020 - sysucc-274T COSM5475770 c.2140A>G p.S714G Substitution - Missense 14:34780282-34780282 - B89-4 COSM1748820 c.1467A>G p.E489E Substitution - coding silent 14:34792818-34792818 - TCGA-BR-4184-01 COSM4050622 c.3277C>T p.R1093W Substitution - Missense 14:34771535-34771535 - MO_1241 COSM5547266 c.1137_1138delGA p.K380fs*3 Deletion - Frameshift 14:34795756-34795757 - 49M COSM5589790 c.3853C>T p.R1285C Substitution - Missense 14:34762147-34762147 - YURAY COSM5382222 c.2411C>T p.P804L Substitution - Missense 14:34776341-34776341 - TCGA-B0-4816-01 COSM469923 c.2798T>C p.L933P Substitution - Missense 14:34775954-34775954 - LU-A08-43 COSM400342 c.3352G>A p.E1118K Substitution - Missense 14:34765218-34765218 - TCGA-13-0793-01 COSM119883 c.1325T>C p.F442S Substitution - Missense 14:34794787-34794787 - TCGA-F1-A448-01 COSM4050620 c.3854G>A p.R1285H Substitution - Missense 14:34762146-34762146 - TCGA-AZ-4315-01 COSM955454 c.4438C>T p.R1480C Substitution - Missense 14:34754863-34754863 - 0046_CRUK_PC_0046_T1_DNA COSM5423480 c.1572A>G p.A524A Substitution - coding silent 14:34786160-34786160 - ESCC_44 COSM5630006 c.2358delG p.E788fs*3 Deletion - Frameshift 14:34776394-34776394 - TCGA-BS-A0UF-01 COSM955452 c.4509G>A p.S1503S Substitution - coding silent 14:34753670-34753670 - 587222 COSM1184470 c.3356C>A p.S1119Y Substitution - Missense 14:34765214-34765214 - TCGA-DK-A3WX-01 COSM3793674 c.3658G>C p.D1220H Substitution - Missense 14:34764825-34764825 - YUTEPA COSM1707263 c.3274G>A p.E1092K Substitution - Missense 14:34771538-34771538 - TCGA-CG-4442-01 COSM1323508 c.4320A>G p.Q1440Q Substitution - coding silent 14:34758770-34758770 - TCGA-D3-A51T-06 COSM3495811 c.744G>A p.T248T Substitution - coding silent 14:34802971-34802971 - CSCC-27-T COSM4572497 c.766T>A p.F256I Substitution - Missense 14:34802949-34802949 - TCGA-AX-A05Z-01 COSM955460 c.2941G>T p.D981Y Substitution - Missense 14:34774383-34774383 - HN_00190 COSM127422 c.171G>T p.T57T Substitution - coding silent 14:34862265-34862265 - HCC66 COSM1607640 c.2361A>G p.K787K Substitution - coding silent 14:34776391-34776391 - SA051 COSM213023 c.2489C>T p.S830F Substitution - Missense 14:34776263-34776263 - TCGA-BS-A0UV-01 COSM955470 c.1471G>T p.E491* Substitution - Nonsense 14:34792814-34792814 - YUGURT COSM5382224 c.587C>T p.P196L Substitution - Missense 14:34810986-34810986 - TCGA-EE-A29E-06 COSM3495809 c.1231C>T p.P411S Substitution - Missense 14:34794881-34794881 - TCGA-B6-A0RE-01 COSM433035 c.2362G>A p.E788K Substitution - Missense 14:34776390-34776390 - UPCI:SCC090 COSM4600362 c.3437T>A p.I1146K Substitution - Missense 14:34765133-34765133 - TCGA-D3-A2J8-06 COSM3495803 c.4389C>T p.V1463V Substitution - coding silent 14:34754912-34754912 - TCGA-18-3409-01 COSM697926 c.4292G>A p.G1431E Substitution - Missense 14:34758798-34758798 - CPCG0083-F1 COSM4880186 c.2885A>G p.N962S Substitution - Missense 14:34774439-34774439 - B80-7 COSM1748818 c.3083T>C p.I1028T Substitution - Missense 14:34773641-34773641 - 3N52-VS-3T52 COSM4983413 c.1986A>T p.E662D Substitution - Missense 14:34783773-34783773 - NCI-H1770 COSM25441 c.4241C>T p.P1414L Substitution - Missense 14:34761759-34761759 - TCGA-AD-5900-01 COSM1369660 c.167T>C p.V56A Substitution - Missense 14:34862269-34862269 - LUAD-LC15C COSM341707 c.4561A>G p.R1521G Substitution - Missense 14:34753618-34753618 - TCGA-AP-A0LM-01 COSM955465 c.2406C>A p.I802I Substitution - coding silent 14:34776346-34776346 - 587256 COSM1184474 c.1590G>A p.W530* Substitution - Nonsense 14:34786142-34786142 - YUROL COSM5382221 c.2560C>T p.Q854* Substitution - Nonsense 14:34776192-34776192 - J87_T COSM3955999 c.572A>G p.K191R Substitution - Missense 14:34811001-34811001 - TCGA-G4-6588-01 COSM1369656 c.1261C>T p.P421S Substitution - Missense 14:34794851-34794851 - TCGA-AD-6889-01 COSM1369661 c.123delT p.F41fs*16 Deletion - Frameshift 14:34862313-34862313 - TCGA-AZ-6598-01 COSM1369654 c.1427delT p.F476fs*3 Deletion - Frameshift 14:34792858-34792858 - TCGA-EE-A181-06 COSM3495806 c.1863T>G p.C621W Substitution - Missense 14:34783896-34783896 - TCGA-BS-A0TJ-01 COSM955456 c.3753C>T p.D1251D Substitution - coding silent 14:34764730-34764730 - TCGA-AC-A2FO-01 COSM3814726 c.3035G>C p.S1012T Substitution - Missense 14:34773689-34773689 - PD24308a COSM5784800 c.3947G>C p.R1316T Substitution - Missense 14:34762053-34762053 - TCGA-CM-5861-01 COSM1369646 c.4226delG p.R1409fs*11 Deletion - Frameshift 14:34761774-34761774 - TCGA-AP-A051-01 COSM955466 c.2350C>T p.R784* Substitution - Nonsense 14:34776402-34776402 - sysucc-1163T COSM4791474 c.3319C>T p.R1107C Substitution - Missense 14:34765251-34765251 - TCGA-DM-A28F-01 COSM1369649 c.3763G>T p.E1255* Substitution - Nonsense 14:34764720-34764720 - TCGA-BS-A0UV-01 COSM955453 c.4438C>A p.R1480S Substitution - Missense 14:34754863-34754863 - TCGA-B5-A0K2-01 COSM955474 c.743C>T p.T248M Substitution - Missense 14:34802972-34802972 - TCGA-18-3421-01 COSM697919 c.3252C>G p.L1084L Substitution - coding silent 14:34771560-34771560 - TCGA-AP-A051-01 COSM955455 c.4033G>A p.A1345T Substitution - Missense 14:34761967-34761967 - T3082 COSM4665204 c.3271A>G p.I1091V Substitution - Missense 14:34771541-34771541 - T407 COSM4665205 c.3044A>G p.Y1015C Substitution - Missense 14:34773680-34773680 - HCC053T COSM5803859 c.685A>G p.K229E Substitution - Missense 14:34807492-34807492 - CHC1720T COSM4800598 c.3297A>C p.P1099P Substitution - coding silent 14:34771515-34771515 - TCGA-BR-8680-01 COSM3495802 c.4508C>T p.S1503L Substitution - Missense 14:34753671-34753671 - TCGA-DD-A4NO-01 COSM4912906 c.1624T>C p.L542L Substitution - coding silent 14:34785984-34785984 - TCGA-AM-5820-01 COSM3753948 c.1335A>G p.Q445Q Substitution - coding silent 14:34794777-34794777 - TCGA-BS-A0TJ-01 COSM955473 c.869A>G p.N290S Substitution - Missense 14:34801186-34801186 - sysucc-1397T COSM4050621 c.3446C>T p.A1149V Substitution - Missense 14:34765124-34765124 - B80-7-Tumor COSM1748818 c.3083T>C p.I1028T Substitution - Missense 14:34773641-34773641 - TCGA-AQ-A54O-01 COSM3814730 c.1014G>T p.K338N Substitution - Missense 14:34800338-34800338 - 2492711 COSM5606345 c.343C>T p.R115* Substitution - Nonsense 14:34862093-34862093 - TCGA-HU-A4GU-01 COSM4050621 c.3446C>T p.A1149V Substitution - Missense 14:34765124-34765124 - sysucc-1317T COSM4791474 c.3319C>T p.R1107C Substitution - Missense 14:34765251-34765251 - TCGA-AP-A056-01 COSM955463 c.2494C>A p.L832I Substitution - Missense 14:34776258-34776258 - TCGA-CM-6678-01 COSM1369652 c.2606C>T p.S869F Substitution - Missense 14:34776146-34776146 - LS411 COSM2195898 c.1808C>T p.T603I Substitution - Missense 14:34785800-34785800 - 169 COSM3729594 c.590C>T p.T197I Substitution - Missense 14:34810983-34810983 - TCGA-CM-6674-01 COSM1369655 c.1318_1319insG p.E440fs*4 Insertion - Frameshift 14:34794793-34794794 - BN42 COSM1607642 c.165T>C p.A55A Substitution - coding silent 14:34862271-34862271 - CSCC-31-T COSM4493271 c.4122C>T p.F1374F Substitution - coding silent 14:34761878-34761878 - TCGA-AX-A0J0-01 COSM955472 c.929A>G p.K310R Substitution - Missense 14:34801126-34801126 - RK190_C01 COSM3744313 c.3543G>A p.K1181K Substitution - coding silent 14:34765027-34765027 - TCGA-D9-A6EC-06 COSM4405953 c.2990C>T p.A997V Substitution - Missense 14:34774334-34774334 - TCGA-AP-A059-01 COSM955478 c.161G>A p.C54Y Substitution - Missense 14:34862275-34862275 - PD23554a COSM5795490 c.4616C>A p.P1539H Substitution - Missense 14:34753563-34753563 - 57 COSM5735078 c.4072C>T p.R1358C Substitution - Missense 14:34761928-34761928 - TCGA-BT-A3PH-01 COSM1300578 c.4330G>C p.E1444Q Substitution - Missense 14:34758760-34758760 - TCGA-AP-A056-01 COSM955462 c.2758G>A p.E920K Substitution - Missense 14:34775994-34775994 - ESCC_160 COSM5647277 c.3721G>A p.E1241K Substitution - Missense 14:34764762-34764762 - ZZUFHECRKL-G020T COSM5445334 c.1467_1469delAGA p.E491delE Deletion - In frame 14:34792816-34792818 - TCGA-HU-A4H4-01 COSM4050625 c.1241C>A p.T414K Substitution - Missense 14:34794871-34794871 - 587338 COSM1184471 c.4532G>A p.R1511H Substitution - Missense 14:34753647-34753647 - 8031157 COSM4136247 c.4009C>T p.R1337C Substitution - Missense 14:34761991-34761991 - SC_9083 COSM5554593 c.4080C>T p.G1360G Substitution - coding silent 14:34761920-34761920 - TCGA-BR-8078-01 COSM4050627 c.714C>T p.V238V Substitution - coding silent 14:34807463-34807463 - ESCC_160 COSM5647278 c.372C>T p.V124V Substitution - coding silent 14:34862064-34862064 - HCC3 COSM1607641 c.2067G>T p.L689L Substitution - coding silent 14:34783163-34783163 - TCGA-29-1698-01 COSM1323508 c.4320A>G p.Q1440Q Substitution - coding silent 14:34758770-34758770 - TCGA-EJ-7782-01 COSM1184474 c.1590G>A p.W530* Substitution - Nonsense 14:34786142-34786142 - TCGA-43-3920-01 COSM697920 c.3295C>G p.P1099A Substitution - Missense 14:34771517-34771517 - TCGA-CG-4305-01 COSM3690061 c.4608C>T p.H1536H Substitution - coding silent 14:34753571-34753571 - ESCC_94 COSM5637363 c.2762C>A p.T921N Substitution - Missense 14:34775990-34775990 - Gp2D COSM2195863 c.4578delT p.H1527fs*>30 Deletion - Frameshift 14:34753601-34753601 - 93VU147T COSM4591229 c.2116G>A p.E706K Substitution - Missense 14:34780306-34780306 - TCGA-GF-A6C9-06 COSM1707264 c.1768C>T p.R590C Substitution - Missense 14:34785840-34785840 - TCGA-AA-A00N-01 COSM274117 c.128G>A p.R43Q Substitution - Missense 14:34862308-34862308 - ESCC-D16 COSM5045601 c.3587G>A p.R1196Q Substitution - Missense 14:34764896-34764896 - HCT15 COSM4245462 c.420C>A p.L140L Substitution - coding silent 14:34826129-34826129 - SNU-C2B COSM2195928 c.102C>T p.F34F Substitution - coding silent 14:34874503-34874503 - CSCC-44-T COSM4533349 c.1970G>A p.R657Q Substitution - Missense 14:34783789-34783789 - LOVO COSM2195893 c.1967A>G p.H656R Substitution - Missense 14:34783792-34783792 - 2_PRE-TREATMENT COSM1369659 c.219delA p.A74fs*12 Deletion - Frameshift 14:34862217-34862217 - CHC1720T COSM4800598 c.3297A>C p.P1099P Substitution - coding silent 14:34771515-34771515 - 2492712 COSM5606345 c.343C>T p.R115* Substitution - Nonsense 14:34862093-34862093 - CHC1738T COSM4805205 c.3262G>C p.E1088Q Substitution - Missense 14:34771550-34771550 - TCGA-AP-A054-01 COSM955461 c.2841T>A p.P947P Substitution - coding silent 14:34774483-34774483 - TCGA-A5-A0GP-01 COSM955476 c.475G>T p.E159* Substitution - Nonsense 14:34826074-34826074 - TCGA-DI-A0WH-01 COSM955468 c.2102T>C p.I701T Substitution - Missense 14:34783128-34783128 - GC8_T COSM147764 c.4653G>A p.A1551A Substitution - coding silent 14:34753526-34753526 - 1N26-VS-1T26 COSM4973477 c.4571C>T p.A1524V Substitution - Missense 14:34753608-34753608 - TCGA-AP-A056-01 COSM955477 c.296C>T p.S99L Substitution - Missense 14:34862140-34862140 - YUKLAB COSM1707261 c.3599G>A p.R1200H Substitution - Missense 14:34764884-34764884 - TCGA-IN-8462-01 COSM955454 c.4438C>T p.R1480C Substitution - Missense 14:34754863-34754863 - TCGA-F5-6814-01 COSM3419783 c.2071G>C p.E691Q Substitution - Missense 14:34783159-34783159 - YUGOE COSM1707264 c.1768C>T p.R590C Substitution - Missense 14:34785840-34785840 - HT115 COSM955454 c.4438C>T p.R1480C Substitution - Missense 14:34754863-34754863 - RK101_C01 COSM3700854 c.464G>T p.S155I Substitution - Missense 14:34826085-34826085 - HX24T COSM3706247 c.1129-9A>C p.? Unknown 14:34795774-34795774 - TCGA-74-6577-01 COSM3401297 c.344G>A p.R115Q Substitution - Missense 14:34862092-34862092 - CHC1600T COSM4791474 c.3319C>T p.R1107C Substitution - Missense 14:34765251-34765251 - CHEWS018 COSM4577839 c.2599T>C p.S867P Substitution - Missense 14:34776153-34776153 - TCGA-AX-A0J0-01 COSM955458 c.3695A>G p.D1232G Substitution - Missense 14:34764788-34764788 - CSCC-10-T COSM4479656 c.2347C>T p.Q783* Substitution - Nonsense 14:34776405-34776405 - TCGA-AN-A0AL-01 COSM433033 c.2848G>C p.D950H Substitution - Missense 14:34774476-34774476 - TCGA-D8-A1JA-01 COSM3814729 c.1248G>A p.V416V Substitution - coding silent 14:34794864-34794864 - HCC2998 COSM2195917 c.777C>A p.F259L Substitution - Missense 14:34802938-34802938 - CSCC-27-T COSM4508563 c.780C>T p.F260F Substitution - coding silent 14:34802935-34802935 - TCGA-HE-7129-01 COSM3987627 c.3000T>C p.V1000V Substitution - coding silent 14:34773724-34773724 - T3091 COSM4665203 c.4200A>G p.Q1400Q Substitution - coding silent 14:34761800-34761800 - TCGA-B5-A11E-01 COSM955459 c.2947C>A p.L983I Substitution - Missense 14:34774377-34774377 - TCGA-DA-A1IC-06 COSM3495802 c.4508C>T p.S1503L Substitution - Missense 14:34753671-34753671 - TCGA-AP-A059-01 COSM955464 c.2467C>T p.L823F Substitution - Missense 14:34776285-34776285 - TCGA-G3-A25Y-01 COSM4917858 c.4325T>C p.V1442A Substitution - Missense 14:34758765-34758765 - 2492714 COSM5606345 c.343C>T p.R115* Substitution - Nonsense 14:34862093-34862093 - ESCC_16 COSM5625760 c.1544C>T p.P515L Substitution - Missense 14:34786188-34786188 - ME009T COSM223686 c.4048G>A p.E1350K Substitution - Missense 14:34761952-34761952 - ME009T COSM223687 c.710G>A p.G237E Substitution - Missense 14:34807467-34807467 - ESCC-F11 COSM5046900 c.2567C>T p.S856F Substitution - Missense 14:34776185-34776185 - TCGA-AA-A010-01 COSM279119 c.749A>C p.K250T Substitution - Missense 14:34802966-34802966 - TCGA-66-2785-01 COSM697913 c.506C>G p.S169* Substitution - Nonsense 14:34826043-34826043 - ESCC_44 COSM5630001 c.2356G>A p.E786K Substitution - Missense 14:34776396-34776396 - TCGA-HJ-7597-01 COSM3495811 c.744G>A p.T248T Substitution - coding silent 14:34802971-34802971 - SK01600_M COSM1600364 c.1558_1565delCTGTCTGC p.L520fs*23 Deletion - Frameshift 14:34786167-34786174 - TCGA-FW-A3R5-06 COSM1707264 c.1768C>T p.R590C Substitution - Missense 14:34785840-34785840 - HCC66T COSM1607640 c.2361A>G p.K787K Substitution - coding silent 14:34776391-34776391 - 405 COSM4430024 c.3828G>A p.G1276G Substitution - coding silent 14:34762172-34762172 - NPC4F COSM4995507 c.3856G>T p.G1286C Substitution - Missense 14:34762144-34762144 - DLD1 COSM4622945 c.196G>A p.E66K Substitution - Missense 14:34862240-34862240 - TCGA-DD-A3A2-01 COSM4928948 c.3831A>C p.K1277N Substitution - Missense 14:34762169-34762169 - TCGA-39-5024-01 COSM697922 c.4094A>G p.N1365S Substitution - Missense 14:34761906-34761906 - Pat_16_A COSM5848048 c.2435G>T p.R812I Substitution - Missense 14:34776317-34776317 - TCGA-CF-A1HR-01 COSM416706 c.4268G>A p.R1423Q Substitution - Missense 14:34758822-34758822 - TCGA-F5-6814-01 COSM955452 c.4509G>A p.S1503S Substitution - coding silent 14:34753670-34753670 - OSCC-GB_00680111 COSM4887787 c.4457G>T p.C1486F Substitution - Missense 14:34754844-34754844 - TCGA-B5-A0JY-01 COSM955467 c.2267T>G p.F756C Substitution - Missense 14:34776485-34776485 - SCC-9 COSM2195870 c.4016G>A p.S1339N Substitution - Missense 14:34761984-34761984 - TCGA-34-2600-01 COSM697915 c.851A>G p.H284R Substitution - Missense 14:34802864-34802864 - NCI-H1770 COSM25406 c.244C>T p.P82S Substitution - Missense 14:34862192-34862192 - TCGA-21-5784-01 COSM697923 c.4124C>T p.P1375L Substitution - Missense 14:34761876-34761876 - TCGA-AZ-6598-01 COSM1369651 c.2830delT p.S944fs*34 Deletion - Frameshift 14:34775922-34775922 - TCGA-FW-A3R5-06 COSM955464 c.2467C>T p.L823F Substitution - Missense 14:34776285-34776285 - Gp5D COSM2195863 c.4578delT p.H1527fs*>30 Deletion - Frameshift 14:34753601-34753601 - TCGA-18-3409-01 COSM697924 c.4291G>A p.G1431R Substitution - Missense 14:34758799-34758799 - 587342 COSM1184472 c.1725A>C p.K575N Substitution - Missense 14:34785883-34785883 - ESCC_BICR_040T COSM5429866 c.3274G>C p.E1092Q Substitution - Missense 14:34771538-34771538 - CHC1738T COSM4805205 c.3262G>C p.E1088Q Substitution - Missense 14:34771550-34771550 - ICGC_MB104 COSM3764493 c.521G>C p.C174S Substitution - Missense 14:34826028-34826028 - TCGA-D8-A1JA-01 COSM3814728 c.1384G>C p.V462L Substitution - Missense 14:34792901-34792901 - C086 COSM955454 c.4438C>T p.R1480C Substitution - Missense 14:34754863-34754863 - HCT-15 COSM1677940 c.3371C>A p.A1124D Substitution - Missense 14:34765199-34765199 - HCT15 COSM1677940 c.3371C>A p.A1124D Substitution - Missense 14:34765199-34765199 - 2521259 COSM5890797 c.3666G>A p.M1222I Substitution - Missense 14:34764817-34764817 - HCC3T COSM1607641 c.2067G>T p.L689L Substitution - coding silent 14:34783163-34783163 - TCGA-CC-5264-01 COSM3706248 c.553A>G p.I185V Substitution - Missense 14:34811020-34811020 - PT35 COSM955477 c.296C>T p.S99L Substitution - Missense 14:34862140-34862140 - B65 COSM1748819 c.1651G>C p.E551Q Substitution - Missense 14:34785957-34785957 - TCGA-AA-3713-01 COSM955477 c.296C>T p.S99L Substitution - Missense 14:34862140-34862140 - RK044_C01 COSM1629279 c.2426G>A p.R809H Substitution - Missense 14:34776326-34776326 - RK178_C01 COSM3744312 c.4267C>G p.R1423G Substitution - Missense 14:34758823-34758823 - TCGA-FW-A3R5-06 COSM3886027 c.1781C>T p.P594L Substitution - Missense 14:34785827-34785827 - Case4 COSM1579291 c.1591C>G p.P531A Substitution - Missense 14:34786141-34786141 - LUAD-S01346 COSM397478 c.734C>G p.S245C Substitution - Missense 14:34802981-34802981 - 234 COSM955474 c.743C>T p.T248M Substitution - Missense 14:34802972-34802972 - TCGA-EE-A29M-06 COSM3495805 c.3520C>T p.H1174Y Substitution - Missense 14:34765050-34765050 - CHC1186T COSM4803347 c.2734G>C p.G912R Substitution - Missense 14:34776018-34776018 - HX19T COSM1607642 c.165T>C p.A55A Substitution - coding silent 14:34862271-34862271 - CHEWS005 COSM4577840 c.2514G>A p.L838L Substitution - coding silent 14:34776238-34776238 - TCGA-BH-A0BW-01 COSM433034 c.2765T>A p.L922* Substitution - Nonsense 14:34775987-34775987 - CSCC-16-T COSM4451285 c.1143A>G p.L381L Substitution - coding silent 14:34795751-34795751 - TCGA-BS-A0TJ-01 COSM955471 c.1145G>A p.R382H Substitution - Missense 14:34795749-34795749 - TCGA-AZ-4615-01 COSM3690061 c.4608C>T p.H1536H Substitution - coding silent 14:34753571-34753571 - CHC1600T COSM4791474 c.3319C>T p.R1107C Substitution - Missense 14:34765251-34765251 - TCGA-HU-A4GN-01 COSM4050623 c.2546A>G p.Q849R Substitution - Missense 14:34776206-34776206 - PDA_078 COSM5002357 c.4098T>A p.N1366K Substitution - Missense 14:34761902-34761902 - CSCC-44-T COSM4516403 c.1893_1894GG>AA p.D632N Substitution - Missense 14:34783865-34783866 - TCGA-AP-A059-01 COSM955457 c.3751G>A p.D1251N Substitution - Missense 14:34764732-34764732 - CSCC-27-T COSM4541182 c.2959G>A p.E987K Substitution - Missense 14:34774365-34774365 - YUGOE COSM1707262 c.3412C>T p.R1138C Substitution - Missense 14:34765158-34765158 - TCGA-AO-A03M-01 COSM3814727 c.2194G>A p.E732K Substitution - Missense 14:34780228-34780228 - TCGA-CA-6718-01 COSM1369647 c.4054C>T p.L1352F Substitution - Missense 14:34761946-34761946 - TCGA-AZ-6598-01 COSM1369659 c.219delA p.A74fs*12 Deletion - Frameshift 14:34862217-34862217 - TCGA-66-2754-01 COSM697916 c.1193C>A p.P398H Substitution - Missense 14:34795701-34795701 - TCGA-ER-A19P-06 COSM3495810 c.953A>G p.K318R Substitution - Missense 14:34801102-34801102 - TCGA-AP-A0LM-01 COSM955469 c.2002C>T p.R668C Substitution - Missense 14:34783228-34783228 - TCGA-66-2773-01 COSM697918 c.1399G>A p.E467K Substitution - Missense 14:34792886-34792886 - TCGA-66-2800-01 COSM697914 c.624A>G p.K208K Substitution - coding silent 14:34810949-34810949 - DLBCL799 COSM1580560 c.2693G>C p.C898S Substitution - Missense 14:34776059-34776059 - C086 COSM5527257 c.4531C>T p.R1511C Substitution - Missense 14:34753648-34753648 - BD173T COSM5500575 c.4387-9A>G p.? Unknown 14:34754923-34754923 - PT15_1 COSM5897874 c.59C>T p.P20L Substitution - Missense 14:34874546-34874546 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.509113;Hs.509116;Hs.509140 14q13.2 605680

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer AACC - IntronicDeletion . c.4387-833_4387-830delGGTT 14 35224950 CLL A C Missense p.C621W c.1863T>G 14 35253102 CM AGG - IntronicDeletion . c.393-13703_393-13701delCCT 14 35309063 CLL A G Missense p.F442S c.1325T>C 14 35263993 OV A G Missense p.L1133P c.3398T>C 14 35234378 STAD A T Nonsense p.L922* c.2765T>A 14 35245193 BRCA A T Synonymous p.P947P c.2841T>A 14 35243689 UCEC C A Nonsense p.E159* c.475G>T 14 35295280 UCEC C A Synonymous p.T57T c.171G>T 14 35331471 HNSC C A Synonymous p.V416V c.1248G>T 14 35264070 RCCC C G Missense p.C174S c.521G>C 14 35295234 MB C G Missense p.D1137H c.3409G>C 14 35234367 LUSC C G Missense p.D950H c.2848G>C 14 35243682 BRCA C G Missense p.E1444Q c.4330G>C 14 35227966 BLCA C G Missense p.R959T c.2876G>C 14 35243654 LUAD CT - Frameshift p.E1088Afs*4 c.3263_3264delAG 14 35240754 BLCA C T Missense p.D1449N c.4345G>A 14 35227951 LUAD C T Missense p.E1350K c.4048G>A 14 35231158 CM C T Missense p.E467K c.1399G>A 14 35262092 LUSC C T Missense p.E788K c.2362G>A 14 35245596 BRCA C T Missense p.E976K c.2926G>A 14 35243604 HNSC C T Missense p.G237E c.710G>A 14 35276673 CM C T Missense p.R115Q c.344G>A 14 35331298 GBM C T Missense p.R1423Q c.4268G>A 14 35228028 BLCA C T Missense p.R382H c.1145G>A 14 35264955 UCEC C T Missense p.R935H c.2804G>A 14 35245154 HNSC G A IntronicSNV . c.1511-65C>T 14 35255492 CM G A Missense p.H1174Y c.3520C>T 14 35234256 CM G A Missense p.P1372S c.4114C>T 14 35231092 CM G A Missense p.P1375L c.4124C>T 14 35231082 LUSC G A Missense p.P449S c.1345C>T 14 35263973 CM G A Missense p.R1480C c.4438C>T 14 35224069 UCEC G A Missense p.S1390F c.4169C>T 14 35231037 BRCA G A Missense p.S1503L c.4508C>T 14 35222877 CM G A Missense p.S830F c.2489C>T 14 35245469 BRCA G A Missense p.T248M c.743C>T 14 35272178 UCEC G A Nonsense p.Q483* c.1447C>T 14 35262044 HNSC G A Synonymous p.D1251D c.3753C>T 14 35233936 UCEC G A Synonymous p.E447E c.1341G>A 14 35263977 GBM G A Synonymous p.H1536H c.4608C>T 14 35222777 STAD G A Synonymous p.L620L c.1860C>T 14 35253105 CM G C Missense p.F25L c.75C>G 14 35343736 HNSC G C Missense p.P1099A c.3295C>G 14 35240723 LUSC G C Missense p.Q1287E c.3859C>G 14 35231347 CM G C Synonymous p.L1084L c.3252C>G 14 35240766 LUSC G - Frameshift p.R1423Qfs*21 c.4268delG 14 35228028 BRCA G T Missense p.P398H c.1193C>A 14 35264907 LUSC T A Missense p.E71V c.212A>T 14 35331430 OV T A Missense p.T1336S c.4006A>T 14 35231200 HNSC T A Missense p.T630S c.1888A>T 14 35253077 LUAD T C Missense p.H284R c.851A>G 14 35272070 LUSC T C Missense p.K318R c.953A>G 14 35270308 CM T C Missense p.M1082V c.3244A>G 14 35240774 BRCA T C Missense p.N1365S c.4094A>G 14 35231112 LUSC T C Missense p.N290S c.869A>G 14 35270392 UCEC T C Synonymous p.K208K c.624A>G 14 35280155 LUSC