Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 2 100017760 100017760 + Missense_Mutation SNP C C G TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 g.chr2:100017760C>G c.3700G>C c.(3700-3702)Gac>Cac p.D1234H BLCA 2 100019149 100019149 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 g.chr2:100019149C>G c.3499G>C c.(3499-3501)Gat>Cat p.D1167H BLCA 2 100019151 100019151 + Missense_Mutation SNP T T C TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 g.chr2:100019151T>C c.3497A>G c.(3496-3498)aAt>aGt p.N1166S BLCA 2 100019387 100019387 + Silent SNP G G A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 g.chr2:100019387G>A c.3349C>T c.(3349-3351)Cta>Tta p.L1117L BLCA 2 100020192 100020192 + Silent SNP C C T TCGA-4Z-AA80-01A-11D-A391-08 TCGA-4Z-AA80-10A-01D-A394-08 g.chr2:100020192C>T c.3132G>A c.(3130-3132)gaG>gaA p.E1044E BLCA 2 100020219 100020219 + Silent SNP C C T TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 g.chr2:100020219C>T c.3105G>A c.(3103-3105)gcG>gcA p.A1035A BLCA 2 100021109 100021109 + Missense_Mutation SNP G G A TCGA-UY-A78N-01A-12D-A339-08 TCGA-UY-A78N-10A-01D-A339-08 g.chr2:100021109G>A c.2843C>T c.(2842-2844)cCt>cTt p.P948L BLCA 2 100040681 100040681 + Nonsense_Mutation SNP G G A TCGA-2F-A9KR-01A-11D-A38G-08 TCGA-2F-A9KR-10A-01D-A38J-08 g.chr2:100040681G>A c.1609C>T c.(1609-1611)Caa>Taa p.Q537* BLCA 2 100052376 100052376 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 g.chr2:100052376C>G c.1241G>C c.(1240-1242)aGa>aCa p.R414T BLCA 2 100055426 100055426 + Missense_Mutation SNP T T C TCGA-XF-A9T6-01A-11D-A42E-08 TCGA-XF-A9T6-10A-01D-A42H-08 g.chr2:100055426T>C c.850A>G c.(850-852)Aga>Gga p.R284G BLCA 2 100079005 100079005 + Missense_Mutation SNP G G A TCGA-XF-A9T0-01A-11D-A391-08 TCGA-XF-A9T0-10A-01D-A394-08 g.chr2:100079005G>A c.134C>T c.(133-135)tCa>tTa p.S45L BRCA 2 100019234 100019234 + Silent SNP C C G TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 g.chr2:100019234C>G c.3414G>C c.(3412-3414)gtG>gtC p.V1138V BRCA 2 100019354 100019354 + Missense_Mutation SNP G G C TCGA-AO-A0JD-01A-11W-A071-09 TCGA-AO-A0JD-10A-01W-A071-09 g.chr2:100019354G>C c.3382C>G c.(3382-3384)Ctg>Gtg p.L1128V BRCA 2 100019354 100019354 + Silent SNP G G A TCGA-A2-A0CU-01A-12W-A050-09 TCGA-A2-A0CU-10A-01W-A055-09 g.chr2:100019354G>A c.3382C>T c.(3382-3384)Ctg>Ttg p.L1128L BRCA 2 100019368 100019368 + Missense_Mutation SNP G G T TCGA-A8-A09Z-01A-11W-A019-09 TCGA-A8-A09Z-10A-01W-A021-09 g.chr2:100019368G>T c.3368C>A c.(3367-3369)cCt>cAt p.P1123H BRCA 2 100029360 100029360 + Missense_Mutation SNP C C T TCGA-BH-A0HF-01A-11W-A071-09 TCGA-BH-A0HF-10A-01W-A071-09 g.chr2:100029360C>T c.2005G>A c.(2005-2007)Gga>Aga p.G669R BRCA 2 100046338 100046338 + Nonsense_Mutation SNP G G C TCGA-A2-A0CL-01A-11D-A10Y-09 TCGA-A2-A0CL-10A-01D-A110-09 g.chr2:100046338G>C c.1511C>G c.(1510-1512)tCa>tGa p.S504* BRCA 2 100055545 100055545 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 g.chr2:100055545G>A c.731C>T c.(730-732)cCc>cTc p.P244L BRCA 2 100065947 100065947 + Silent SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 g.chr2:100065947C>T c.201G>A c.(199-201)ttG>ttA p.L67L CESC 2 100040681 100040681 + Nonsense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 g.chr2:100040681G>A c.1609C>T c.(1609-1611)Caa>Taa p.Q537* CESC 2 100058894 100058894 + Missense_Mutation SNP G G C TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 g.chr2:100058894G>C c.388C>G c.(388-390)Cag>Gag p.Q130E COAD 2 100017814 100017814 + Splice_Site SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr2:100017814G>A c.3646C>T c.(3646-3648)Ctg>Ttg p.L1216L COAD 2 100019198 100019198 + Silent SNP G G A TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr2:100019198G>A c.3450C>T c.(3448-3450)ggC>ggT p.G1150G COAD 2 100019358 100019358 + Silent SNP T T C TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr2:100019358T>C c.3378A>G c.(3376-3378)aaA>aaG p.K1126K COAD 2 100019501 100019501 + Frame_Shift_Del DEL T T - TCGA-CM-5868-01A-01D-1650-10 TCGA-CM-5868-10A-01D-1650-10 g.chr2:100019501delT c.3235delA c.(3235-3237)accfs p.T1079fs COAD 2 100019562 100019562 + Silent SNP C C T TCGA-AA-3973-01A-01W-0995-10 TCGA-AA-3973-10A-01W-0999-10 g.chr2:100019562C>T c.3174G>A c.(3172-3174)aaG>aaA p.K1058K COAD 2 100019566 100019566 + Missense_Mutation SNP G G A TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr2:100019566G>A c.3170C>T c.(3169-3171)cCa>cTa p.P1057L COAD 2 100020158 100020158 + Splice_Site SNP C C A TCGA-AA-3833-01A-01W-0900-09 TCGA-AA-3833-10A-01W-0900-09 g.chr2:100020158C>A c.3166G>T c.(3166-3168)Gtg>Ttg p.V1056L COAD 2 100020955 100020955 + Silent SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr2:100020955C>T c.2997G>A c.(2995-2997)tcG>tcA p.S999S COAD 2 100021024 100021024 + Silent SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr2:100021024G>A c.2928C>T c.(2926-2928)ggC>ggT p.G976G COAD 2 100021045 100021045 + Missense_Mutation SNP T T G TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr2:100021045T>G c.2907A>C c.(2905-2907)aaA>aaC p.K969N COAD 2 100021091 100021091 + Missense_Mutation SNP A A G TCGA-AA-A01P-01A-21W-A096-10 TCGA-AA-A01P-11A-11W-A096-10 g.chr2:100021091A>G c.2861T>C c.(2860-2862)gTa>gCa p.V954A COAD 2 100022814 100022814 + Missense_Mutation SNP T T C TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr2:100022814T>C c.2587A>G c.(2587-2589)Aaa>Gaa p.K863E COAD 2 100037986 100037986 + Silent SNP C C T TCGA-AA-A00R-01A-01W-A005-10 TCGA-AA-A00R-10A-01W-A005-10 g.chr2:100037986C>T c.1806G>A c.(1804-1806)acG>acA p.T602T COAD 2 100046382 100046382 + Silent SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr2:100046382C>T c.1467G>A c.(1465-1467)gaG>gaA p.E489E COAD 2 100050819 100050819 + Missense_Mutation SNP C C A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr2:100050819C>A c.1413G>T c.(1411-1413)caG>caT p.Q471H COAD 2 100052367 100052367 + Missense_Mutation SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr2:100052367C>T c.1250G>A c.(1249-1251)aGc>aAc p.S417N COAD 2 100052380 100052380 + Missense_Mutation SNP G G A TCGA-CM-6172-01A-11D-1650-10 TCGA-CM-6172-10A-01D-1650-10 g.chr2:100052380G>A c.1237C>T c.(1237-1239)Ccc>Tcc p.P413S COAD 2 100055283 100055283 + Silent SNP C C T TCGA-G4-6303-01A-11D-1771-10 TCGA-G4-6303-10A-01D-1771-10 g.chr2:100055283C>T c.993G>A c.(991-993)acG>acA p.T331T COAD 2 100055284 100055284 + Missense_Mutation SNP G G T TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr2:100055284G>T c.992C>A c.(991-993)aCg>aAg p.T331K COAD 2 100055284 100055284 + Missense_Mutation SNP G G T TCGA-F4-6806-01A-11D-1835-10 TCGA-F4-6806-10A-01D-1835-10 g.chr2:100055284G>T c.992C>A c.(991-993)aCg>aAg p.T331K COADREAD 2 100017814 100017814 + Splice_Site SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr2:100017814G>A c.3646C>T c.(3646-3648)Ctg>Ttg p.L1216L COADREAD 2 100019198 100019198 + Silent SNP G G A TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr2:100019198G>A c.3450C>T c.(3448-3450)ggC>ggT p.G1150G COADREAD 2 100019358 100019358 + Silent SNP T T C TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr2:100019358T>C c.3378A>G c.(3376-3378)aaA>aaG p.K1126K COADREAD 2 100019501 100019501 + Frame_Shift_Del DEL T T - TCGA-CM-5868-01A-01D-1650-10 TCGA-CM-5868-10A-01D-1650-10 g.chr2:100019501delT c.3235delA c.(3235-3237)accfs p.T1079fs COADREAD 2 100019562 100019562 + Silent SNP C C T TCGA-AA-3973-01A-01W-0995-10 TCGA-AA-3973-10A-01W-0999-10 g.chr2:100019562C>T c.3174G>A c.(3172-3174)aaG>aaA p.K1058K COADREAD 2 100019566 100019566 + Missense_Mutation SNP G G A TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr2:100019566G>A c.3170C>T c.(3169-3171)cCa>cTa p.P1057L COADREAD 2 100020158 100020158 + Splice_Site SNP C C A TCGA-AA-3833-01A-01W-0900-09 TCGA-AA-3833-10A-01W-0900-09 g.chr2:100020158C>A c.3166G>T c.(3166-3168)Gtg>Ttg p.V1056L COADREAD 2 100020955 100020955 + Silent SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr2:100020955C>T c.2997G>A c.(2995-2997)tcG>tcA p.S999S COADREAD 2 100021024 100021024 + Silent SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr2:100021024G>A c.2928C>T c.(2926-2928)ggC>ggT p.G976G COADREAD 2 100021045 100021045 + Missense_Mutation SNP T T G TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr2:100021045T>G c.2907A>C c.(2905-2907)aaA>aaC p.K969N COADREAD 2 100021091 100021091 + Missense_Mutation SNP A A G TCGA-AA-A01P-01A-21W-A096-10 TCGA-AA-A01P-11A-11W-A096-10 g.chr2:100021091A>G c.2861T>C c.(2860-2862)gTa>gCa p.V954A COADREAD 2 100022814 100022814 + Missense_Mutation SNP T T C TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr2:100022814T>C c.2587A>G c.(2587-2589)Aaa>Gaa p.K863E COADREAD 2 100022947 100022947 + Silent SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:100022947C>A c.2454G>T c.(2452-2454)ggG>ggT p.G818G COADREAD 2 100027203 100027203 + Nonsense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:100027203C>A c.2299G>T c.(2299-2301)Gaa>Taa p.E767* COADREAD 2 100037986 100037986 + Silent SNP C C T TCGA-AA-A00R-01A-01W-A005-10 TCGA-AA-A00R-10A-01W-A005-10 g.chr2:100037986C>T c.1806G>A c.(1804-1806)acG>acA p.T602T COADREAD 2 100038009 100038009 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:100038009G>A c.1783C>T c.(1783-1785)Cgt>Tgt p.R595C COADREAD 2 100046382 100046382 + Silent SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr2:100046382C>T c.1467G>A c.(1465-1467)gaG>gaA p.E489E COADREAD 2 100050819 100050819 + Missense_Mutation SNP C C A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr2:100050819C>A c.1413G>T c.(1411-1413)caG>caT p.Q471H COADREAD 2 100052367 100052367 + Missense_Mutation SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr2:100052367C>T c.1250G>A c.(1249-1251)aGc>aAc p.S417N COADREAD 2 100052380 100052380 + Missense_Mutation SNP G G A TCGA-CM-6172-01A-11D-1650-10 TCGA-CM-6172-10A-01D-1650-10 g.chr2:100052380G>A c.1237C>T c.(1237-1239)Ccc>Tcc p.P413S COADREAD 2 100055283 100055283 + Silent SNP C C T TCGA-G4-6303-01A-11D-1771-10 TCGA-G4-6303-10A-01D-1771-10 g.chr2:100055283C>T c.993G>A c.(991-993)acG>acA p.T331T COADREAD 2 100055284 100055284 + Missense_Mutation SNP G G T TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr2:100055284G>T c.992C>A c.(991-993)aCg>aAg p.T331K COADREAD 2 100055284 100055284 + Missense_Mutation SNP G G T TCGA-F4-6806-01A-11D-1835-10 TCGA-F4-6806-10A-01D-1835-10 g.chr2:100055284G>T c.992C>A c.(991-993)aCg>aAg p.T331K COADREAD 2 100065819 100065819 + Missense_Mutation SNP C C T TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr2:100065819C>T c.329G>A c.(328-330)cGa>cAa p.R110Q DLBC 2 100065955 100065955 + Missense_Mutation SNP C C T TCGA-GS-A9TX-01A-11D-A382-10 TCGA-GS-A9TX-10A-01D-A385-10 g.chr2:100065955C>T c.193G>A c.(193-195)Gag>Aag p.E65K ESCA 2 100017707 100017707 + Silent SNP T T C TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 g.chr2:100017707T>C c.3753A>G c.(3751-3753)acA>acG p.T1251T ESCA 2 100019123 100019123 + Missense_Mutation SNP C C A TCGA-IG-A5B8-01A-11D-A28B-09 TCGA-IG-A5B8-10A-01D-A28E-09 g.chr2:100019123C>A c.3525G>T c.(3523-3525)tgG>tgT p.W1175C ESCA 2 100019466 100019466 + Missense_Mutation SNP C C G TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 g.chr2:100019466C>G c.3270G>C c.(3268-3270)ttG>ttC p.L1090F ESCA 2 100019518 100019518 + Missense_Mutation SNP C C G TCGA-L5-A43H-01A-11D-A247-09 TCGA-L5-A43H-11A-11D-A247-09 g.chr2:100019518C>G c.3218G>C c.(3217-3219)aGa>aCa p.R1073T ESCA 2 100021024 100021024 + Silent SNP G G A TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 g.chr2:100021024G>A c.2928C>T c.(2926-2928)ggC>ggT p.G976G ESCA 2 100046332 100046332 + Missense_Mutation SNP G G A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 g.chr2:100046332G>A c.1517C>T c.(1516-1518)gCt>gTt p.A506V GBM 2 100024503 100024507 + Frame_Shift_Del DEL TGATA TGATA - TCGA-06-0168-01A-01D-1491-08 TCGA-06-0168-10A-01D-1491-08 g.chr2:100024503_100024507delTGATA c.2432_2436delTATCA c.(2431-2436)atatcafs p.IS811fs GBM 2 100065960 100065960 + Missense_Mutation SNP G G C TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 g.chr2:100065960G>C c.188C>G c.(187-189)tCc>tGc p.S63C GBMLGG 2 100022891 100022891 + Missense_Mutation SNP C C T TCGA-HT-8564-01A-11D-2395-08 TCGA-HT-8564-10A-01D-2396-08 g.chr2:100022891C>T c.2510G>A c.(2509-2511)cGc>cAc p.R837H GBMLGG 2 100024503 100024507 + Frame_Shift_Del DEL TGATA TGATA - TCGA-06-0168-01A-01D-1491-08 TCGA-06-0168-10A-01D-1491-08 g.chr2:100024503_100024507delTGATA c.2432_2436delTATCA c.(2431-2436)atatcafs p.IS811fs GBMLGG 2 100055074 100055076 + In_Frame_Del DEL ACA ACA - TCGA-HT-A5R9-01A-11D-A289-08 TCGA-HT-A5R9-10A-01D-A289-08 g.chr2:100055074_100055076delACA c.1200_1202delTGT c.(1198-1203)gttgta>gta p.400_401VV>V GBMLGG 2 100065960 100065960 + Missense_Mutation SNP G G C TCGA-76-6660-01A-11D-1845-08 TCGA-76-6660-10A-01D-1845-08 g.chr2:100065960G>C c.188C>G c.(187-189)tCc>tGc p.S63C GBMLGG 2 100079071 100079071 + Missense_Mutation SNP G G A TCGA-FG-7641-01B-11D-2253-08 TCGA-FG-7641-10A-01D-2253-08 g.chr2:100079071G>A c.68C>T c.(67-69)gCt>gTt p.A23V HNSC 2 100022563 100022563 + Missense_Mutation SNP G G A TCGA-CN-4742-01A-02D-1512-08 TCGA-CN-4742-10A-01D-1512-08 g.chr2:100022563G>A c.2620C>T c.(2620-2622)Cgg>Tgg p.R874W HNSC 2 100027230 100027230 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr2:100027230T>C c.2272A>G c.(2272-2274)Atg>Gtg p.M758V HNSC 2 100029249 100029249 + Missense_Mutation SNP C C T TCGA-P3-A5QF-01A-11D-A28R-08 TCGA-P3-A5QF-10A-01D-A28U-08 g.chr2:100029249C>T c.2116G>A c.(2116-2118)Gaa>Aaa p.E706K HNSC 2 100038070 100038070 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr2:100038070T>C c.1722A>G c.(1720-1722)gtA>gtG p.V574V HNSC 2 100055565 100055565 + Silent SNP C C T TCGA-CR-5247-01A-01D-2012-08 TCGA-CR-5247-10A-01D-2013-08 g.chr2:100055565C>T c.711G>A c.(709-711)aaG>aaA p.K237K KICH 2 100038086 100038086 + Missense_Mutation SNP C C T TCGA-KL-8326-01A-11D-2310-10 TCGA-KL-8326-11A-01D-2310-10 g.chr2:100038086C>T c.1706G>A c.(1705-1707)tGt>tAt p.C569Y KIPAN 2 100019166 100019166 + Missense_Mutation SNP C C T TCGA-B9-4115-01A-01D-1252-08 TCGA-B9-4115-10A-01D-1252-08 g.chr2:100019166C>T c.3482G>A c.(3481-3483)gGa>gAa p.G1161E KIPAN 2 100019183 100019183 + Silent SNP T T G TCGA-DV-5575-01A-01D-1534-10 TCGA-DV-5575-10A-01D-1535-10 g.chr2:100019183T>G c.3465A>C c.(3463-3465)ccA>ccC p.P1155P KIPAN 2 100019396 100019397 + Frame_Shift_Ins INS - - A TCGA-B1-A656-01A-11D-A31X-10 TCGA-B1-A656-10A-01D-A31X-10 g.chr2:100019396_100019397insA c.3339_3340insT c.(3337-3342)attgatfs p.D1114fs KIPAN 2 100019482 100019482 + Missense_Mutation SNP C C T TCGA-B4-5832-01A-11D-1669-08 TCGA-B4-5832-10A-01D-1669-08 g.chr2:100019482C>T c.3254G>A c.(3253-3255)aGg>aAg p.R1085K KIPAN 2 100038086 100038086 + Missense_Mutation SNP C C T TCGA-KL-8326-01A-11D-2310-10 TCGA-KL-8326-11A-01D-2310-10 g.chr2:100038086C>T c.1706G>A c.(1705-1707)tGt>tAt p.C569Y KIPAN 2 100055089 100055089 + Missense_Mutation SNP C C G TCGA-B0-4811-01A-01D-1501-10 TCGA-B0-4811-11A-02D-1501-10 g.chr2:100055089C>G c.1187G>C c.(1186-1188)aGg>aCg p.R396T KIRC 2 100019183 100019183 + Silent SNP T T G TCGA-DV-5575-01A-01D-1534-10 TCGA-DV-5575-10A-01D-1535-10 g.chr2:100019183T>G c.3465A>C c.(3463-3465)ccA>ccC p.P1155P KIRC 2 100019482 100019482 + Missense_Mutation SNP C C T TCGA-B4-5832-01A-11D-1669-08 TCGA-B4-5832-10A-01D-1669-08 g.chr2:100019482C>T c.3254G>A c.(3253-3255)aGg>aAg p.R1085K KIRC 2 100055089 100055089 + Missense_Mutation SNP C C G TCGA-B0-4811-01A-01D-1501-10 TCGA-B0-4811-11A-02D-1501-10 g.chr2:100055089C>G c.1187G>C c.(1186-1188)aGg>aCg p.R396T KIRP 2 100019166 100019166 + Missense_Mutation SNP C C T TCGA-B9-4115-01A-01D-1252-08 TCGA-B9-4115-10A-01D-1252-08 g.chr2:100019166C>T c.3482G>A c.(3481-3483)gGa>gAa p.G1161E KIRP 2 100019396 100019397 + Frame_Shift_Ins INS - - A TCGA-B1-A656-01A-11D-A31X-10 TCGA-B1-A656-10A-01D-A31X-10 g.chr2:100019396_100019397insA c.3339_3340insT c.(3337-3342)attgatfs p.D1114fs LGG 2 100022891 100022891 + Missense_Mutation SNP C C T TCGA-HT-8564-01A-11D-2395-08 TCGA-HT-8564-10A-01D-2396-08 g.chr2:100022891C>T c.2510G>A c.(2509-2511)cGc>cAc p.R837H LGG 2 100055074 100055076 + In_Frame_Del DEL ACA ACA - TCGA-HT-A5R9-01A-11D-A289-08 TCGA-HT-A5R9-10A-01D-A289-08 g.chr2:100055074_100055076delACA c.1200_1202delTGT c.(1198-1203)gttgta>gta p.400_401VV>V LGG 2 100079071 100079071 + Missense_Mutation SNP G G A TCGA-FG-7641-01B-11D-2253-08 TCGA-FG-7641-10A-01D-2253-08 g.chr2:100079071G>A c.68C>T c.(67-69)gCt>gTt p.A23V LIHC 2 100019252 100019253 + Frame_Shift_Del DEL AG AG - TCGA-G3-A25W-01A-11D-A16V-10 TCGA-G3-A25W-11A-12D-A16V-10 g.chr2:100019252_100019253delAG c.3395_3396delCT c.(3394-3396)tctfs p.S1132fs LIHC 2 100019562 100019562 + Missense_Mutation SNP C C A TCGA-BD-A3EP-01A-11D-A22F-10 TCGA-BD-A3EP-11A-12D-A22F-10 g.chr2:100019562C>A c.3174G>T c.(3172-3174)aaG>aaT p.K1058N LIHC 2 100029414 100029414 + Splice_Site SNP C C T TCGA-FV-A2QR-01A-11D-A20W-10 TCGA-FV-A2QR-11A-11D-A20W-10 g.chr2:100029414C>T c.e13-1 LIHC 2 100046405 100046405 + Missense_Mutation SNP T T C TCGA-MI-A75C-01A-11D-A32G-10 TCGA-MI-A75C-10A-01D-A32G-10 g.chr2:100046405T>C c.1444A>G c.(1444-1446)Ata>Gta p.I482V LIHC 2 100050856 100050856 + Missense_Mutation SNP G G A TCGA-DD-AADQ-01A-11D-A40R-10 TCGA-DD-AADQ-10A-01D-A40U-10 g.chr2:100050856G>A c.1376C>T c.(1375-1377)cCt>cTt p.P459L LIHC 2 100058804 100058804 + Missense_Mutation SNP T T C TCGA-CC-A7IK-01A-12D-A33Q-10 TCGA-CC-A7IK-10A-01D-A33Q-10 g.chr2:100058804T>C c.478A>G c.(478-480)Ata>Gta p.I160V LIHC 2 100058822 100058822 + Silent SNP G G A TCGA-ZS-A9CD-01A-11D-A36X-10 TCGA-ZS-A9CD-10A-01D-A370-10 g.chr2:100058822G>A c.460C>T c.(460-462)Ctg>Ttg p.L154L LUAD 2 100019435 100019435 + Missense_Mutation SNP T T G TCGA-93-7348-01A-21D-2036-08 TCGA-93-7348-10A-01D-2036-08 g.chr2:100019435T>G c.3301A>C c.(3301-3303)Act>Cct p.T1101P LUAD 2 100020219 100020219 + Silent SNP C C T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 g.chr2:100020219C>T c.3105G>A c.(3103-3105)gcG>gcA p.A1035A LUAD 2 100020963 100020963 + Missense_Mutation SNP G G C TCGA-50-6590-01A-12D-1855-08 TCGA-50-6590-11A-01D-1855-08 g.chr2:100020963G>C c.2989C>G c.(2989-2991)Caa>Gaa p.Q997E LUAD 2 100021013 100021013 + Missense_Mutation SNP C C T TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 g.chr2:100021013C>T c.2939G>A c.(2938-2940)gGa>gAa p.G980E LUAD 2 100021119 100021119 + Missense_Mutation SNP C C G TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 g.chr2:100021119C>G c.2833G>C c.(2833-2835)Gca>Cca p.A945P LUAD 2 100021122 100021122 + Missense_Mutation SNP C C T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 g.chr2:100021122C>T c.2830G>A c.(2830-2832)Gaa>Aaa p.E944K LUAD 2 100027159 100027159 + Frame_Shift_Del DEL G G - TCGA-05-4398-01A-01D-1265-08 TCGA-05-4398-10A-01D-1265-08 g.chr2:100027159delG c.2343delC c.(2341-2343)gccfs p.A781fs LUAD 2 100035309 100035309 + Missense_Mutation SNP C C G TCGA-MN-A4N4-01A-12D-A24P-08 TCGA-MN-A4N4-10A-01D-A24P-08 g.chr2:100035309C>G c.1932G>C c.(1930-1932)caG>caC p.Q644H LUAD 2 100038094 100038094 + Silent SNP A A G TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 g.chr2:100038094A>G c.1698T>C c.(1696-1698)gcT>gcC p.A566A LUAD 2 100050907 100050907 + Missense_Mutation SNP T T A TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 g.chr2:100050907T>A c.1325A>T c.(1324-1326)aAa>aTa p.K442I LUAD 2 100052327 100052327 + Silent SNP T T A TCGA-05-4398-01A-01D-1265-08 TCGA-05-4398-10A-01D-1265-08 g.chr2:100052327T>A c.1290A>T c.(1288-1290)tcA>tcT p.S430S LUAD 2 100058928 100058928 + Missense_Mutation SNP G G C TCGA-44-2656-01A-02D-0969-08 TCGA-44-2656-10A-01D-0969-08 g.chr2:100058928G>C c.354C>G c.(352-354)atC>atG p.I118M LUAD 2 100079005 100079005 + Nonsense_Mutation SNP G G T TCGA-44-6146-01A-11D-1753-08 TCGA-44-6146-10A-01D-1753-08 g.chr2:100079005G>T c.134C>A c.(133-135)tCa>tAa p.S45* LUSC 2 100019492 100019492 + Missense_Mutation SNP A A G TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 g.chr2:100019492A>G c.3244T>C c.(3244-3246)Tca>Cca p.S1082P LUSC 2 100029392 100029392 + Missense_Mutation SNP G G A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 g.chr2:100029392G>A c.1973C>T c.(1972-1974)tCt>tTt p.S658F LUSC 2 100055628 100055628 + Silent SNP C C T TCGA-21-1078-01A-01D-1521-08 TCGA-21-1078-11A-01D-1521-08 g.chr2:100055628C>T c.648G>A c.(646-648)ccG>ccA p.P216P LUSC 2 100055666 100055666 + Missense_Mutation SNP C C T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr2:100055666C>T c.610G>A c.(610-612)Gag>Aag p.E204K LUSC 2 100065857 100065857 + Missense_Mutation SNP A A T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 g.chr2:100065857A>T c.291T>A c.(289-291)aaT>aaA p.N97K LUSC 2 100079080 100079080 + Missense_Mutation SNP C C T TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 g.chr2:100079080C>T c.59G>A c.(58-60)gGg>gAg p.G20E OV 2 100020219 100020219 + Silent SNP C C G TCGA-04-1338-01A-01W-0484-10 TCGA-04-1338-11A-01W-0485-10 g.chr2:100020219C>G c.3105G>C c.(3103-3105)gcG>gcC p.A1035A OV 2 100055283 100055283 + Silent SNP C C T TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 g.chr2:100055283C>T c.993G>A c.(991-993)acG>acA p.T331T PAAD 2 100027216 100027216 + Silent SNP A A C TCGA-FB-AAPQ-01A-11D-A40W-08 TCGA-FB-AAPQ-11A-11D-A40W-08 g.chr2:100027216A>C c.2286T>G c.(2284-2286)ccT>ccG p.P762P PAAD 2 100029261 100029261 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr2:100029261G>A c.2104C>T c.(2104-2106)Cca>Tca p.P702S PCPG 2 100065882 100065882 + Missense_Mutation SNP T T C TCGA-RW-A684-01A-12D-A35D-08 TCGA-RW-A684-10A-01D-A35B-08 g.chr2:100065882T>C c.266A>G c.(265-267)cAt>cGt p.H89R PRAD 2 100020239 100020239 + Missense_Mutation SNP G G T TCGA-VN-A943-01A-11D-A41K-08 TCGA-VN-A943-10A-01D-A41N-08 g.chr2:100020239G>T c.3085C>A c.(3085-3087)Cag>Aag p.Q1029K PRAD 2 100055101 100055102 + Frame_Shift_Ins INS - - T TCGA-EJ-5495-01A-01D-1576-08 TCGA-EJ-5495-10A-01D-1577-08 g.chr2:100055101_100055102insT c.1174_1175insA c.(1174-1176)atgfs p.M392fs PRAD 2 100055181 100055181 + Silent SNP C C T TCGA-HI-7168-01A-11D-2114-08 TCGA-HI-7168-10A-01D-2115-08 g.chr2:100055181C>T c.1095G>A c.(1093-1095)aaG>aaA p.K365K READ 2 100022947 100022947 + Silent SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:100022947C>A c.2454G>T c.(2452-2454)ggG>ggT p.G818G READ 2 100027203 100027203 + Nonsense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:100027203C>A c.2299G>T c.(2299-2301)Gaa>Taa p.E767* READ 2 100038009 100038009 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:100038009G>A c.1783C>T c.(1783-1785)Cgt>Tgt p.R595C READ 2 100065819 100065819 + Missense_Mutation SNP C C T TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr2:100065819C>T c.329G>A c.(328-330)cGa>cAa p.R110Q SARC 2 100055179 100055179 + Missense_Mutation SNP C C T TCGA-KD-A5QU-01A-11D-A27P-09 TCGA-KD-A5QU-10A-01D-A27P-09 g.chr2:100055179C>T c.1097G>A c.(1096-1098)tGt>tAt p.C366Y SKCM 2 100020940 100020940 + Silent SNP T T G TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 g.chr2:100020940T>G c.3012A>C c.(3010-3012)ggA>ggC p.G1004G SKCM 2 100022401 100022401 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 g.chr2:100022401G>A c.2782C>T c.(2782-2784)Ctg>Ttg p.L928L SKCM 2 100022402 100022402 + Silent SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 g.chr2:100022402G>A c.2781C>T c.(2779-2781)aaC>aaT p.N927N SKCM 2 100038043 100038043 + Silent SNP G G A TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 g.chr2:100038043G>A c.1749C>T c.(1747-1749)acC>acT p.T583T SKCM 2 100050810 100050810 + Silent SNP G G A TCGA-EE-A182-06A-11D-A196-08 TCGA-EE-A182-10A-01D-A198-08 g.chr2:100050810G>A c.1422C>T c.(1420-1422)atC>atT p.I474I SKCM 2 100050846 100050846 + Silent SNP G G A TCGA-EE-A2M5-06A-12D-A197-08 TCGA-EE-A2M5-10A-01D-A199-08 g.chr2:100050846G>A c.1386C>T c.(1384-1386)aaC>aaT p.N462N SKCM 2 100055656 100055656 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr2:100055656G>A c.620C>T c.(619-621)tCt>tTt p.S207F SKCM 2 100055763 100055763 + Silent SNP G G A TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr2:100055763G>A c.513C>T c.(511-513)atC>atT p.I171I SKCM 2 100058806 100058806 + Missense_Mutation SNP T T C TCGA-EE-A3AE-06A-11D-A196-08 TCGA-EE-A3AE-10A-01D-A198-08 g.chr2:100058806T>C c.476A>G c.(475-477)aAt>aGt p.N159S SKCM 2 100058829 100058829 + Silent SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 g.chr2:100058829C>T c.453G>A c.(451-453)gaG>gaA p.E151E SKCM 2 100058899 100058899 + Missense_Mutation SNP G G A TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr2:100058899G>A c.383C>T c.(382-384)cCa>cTa p.P128L SKCM 2 100058907 100058907 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr2:100058907G>A c.375C>T c.(373-375)tcC>tcT p.S125S SKCM 2 100065959 100065959 + Silent SNP G G A TCGA-EE-A29S-06A-11D-A197-08 TCGA-EE-A29S-10A-01D-A199-08 g.chr2:100065959G>A c.189C>T c.(187-189)tcC>tcT p.S63S

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation AML-US 2 100019386 100019386 single base substitution A G 3_prime_UTR_variant AML-US 2 100019386 100019386 single base substitution A G downstream_gene_variant AML-US 2 100019386 100019386 single base substitution A G exon_variant AML-US 2 100019386 100019386 single base substitution A G intron_variant AML-US 2 100019386 100019386 single base substitution A G missense_variant L1116P 3347T>C AML-US 2 100019386 100019386 single base substitution A G missense_variant L1117P 3350T>C BLCA-CN 2 100027293 100027293 single base substitution C G 3_prime_UTR_variant BLCA-CN 2 100027293 100027293 single base substitution C G exon_variant BLCA-CN 2 100027293 100027293 single base substitution C G missense_variant E736Q 2206G>C BLCA-CN 2 100027293 100027293 single base substitution C G missense_variant E737Q 2209G>C BLCA-CN 2 100027293 100027293 single base substitution C G upstream_gene_variant BLCA-CN 2 100038048 100038048 single base substitution C G 3_prime_UTR_variant BLCA-CN 2 100038048 100038048 single base substitution C G downstream_gene_variant BLCA-CN 2 100038048 100038048 single base substitution C G exon_variant BLCA-CN 2 100038048 100038048 single base substitution C G missense_variant E581Q 1741G>C BLCA-CN 2 100038048 100038048 single base substitution C G missense_variant E582Q 1744G>C BLCA-CN 2 100050906 100050906 single base substitution T A 3_prime_UTR_variant BLCA-CN 2 100050906 100050906 single base substitution T A downstream_gene_variant BLCA-CN 2 100050906 100050906 single base substitution T A exon_variant BLCA-CN 2 100050906 100050906 single base substitution T A missense_variant K442N 1326A>T BLCA-CN 2 100050906 100050906 single base substitution T A missense_variant K80N 240A>T BLCA-CN 2 100058785 100058785 single base substitution T C 3_prime_UTR_variant BLCA-CN 2 100058785 100058785 single base substitution T C exon_variant BLCA-CN 2 100058785 100058785 single base substitution T C missense_variant N166S 497A>G BLCA-CN 2 100058785 100058785 single base substitution T C upstream_gene_variant BLCA-US 2 100019151 100019151 single base substitution T C 3_prime_UTR_variant BLCA-US 2 100019151 100019151 single base substitution T C downstream_gene_variant BLCA-US 2 100019151 100019151 single base substitution T C exon_variant BLCA-US 2 100019151 100019151 single base substitution T C intron_variant BLCA-US 2 100019151 100019151 single base substitution T C missense_variant N1165S 3494A>G BLCA-US 2 100019151 100019151 single base substitution T C missense_variant N1166S 3497A>G BLCA-US 2 100019387 100019387 single base substitution G A 3_prime_UTR_variant BLCA-US 2 100019387 100019387 single base substitution G A downstream_gene_variant BLCA-US 2 100019387 100019387 single base substitution G A exon_variant BLCA-US 2 100019387 100019387 single base substitution G A intron_variant BLCA-US 2 100019387 100019387 single base substitution G A synonymous_variant L1116L 3346C>T BLCA-US 2 100019387 100019387 single base substitution G A synonymous_variant L1117L 3349C>T BLCA-US 2 100020219 100020219 single base substitution C T 3_prime_UTR_variant BLCA-US 2 100020219 100020219 single base substitution C T downstream_gene_variant BLCA-US 2 100020219 100020219 single base substitution C T exon_variant BLCA-US 2 100020219 100020219 single base substitution C T intron_variant BLCA-US 2 100020219 100020219 single base substitution C T synonymous_variant A1034A 3102G>A BLCA-US 2 100020219 100020219 single base substitution C T synonymous_variant A1035A 3105G>A BLCA-US 2 100020219 100020219 single base substitution C T upstream_gene_variant BLCA-US 2 100052376 100052376 single base substitution C G 3_prime_UTR_variant BLCA-US 2 100052376 100052376 single base substitution C G downstream_gene_variant BLCA-US 2 100052376 100052376 single base substitution C G exon_variant BLCA-US 2 100052376 100052376 single base substitution C G missense_variant R414T 1241G>C BLCA-US 2 100052376 100052376 single base substitution C G missense_variant R52T 155G>C BOCA-FR 2 100056610 100056610 single base substitution C A intron_variant BOCA-FR 2 100056610 100056610 single base substitution C A upstream_gene_variant BOCA-UK 2 100079002 100079002 single base substitution G C exon_variant BOCA-UK 2 100079002 100079002 single base substitution G C missense_variant S46C 137C>G BRCA-EU 2 100012781 100012781 single base substitution A C downstream_gene_variant BRCA-EU 2 100015270 100015270 deletion of <=200bp A - downstream_gene_variant BRCA-EU 2 100015885 100015885 single base substitution A C downstream_gene_variant BRCA-EU 2 100017332 100017332 single base substitution C T 3_prime_UTR_variant BRCA-EU 2 100017332 100017332 single base substitution C T downstream_gene_variant BRCA-EU 2 100018102 100018102 single base substitution C T downstream_gene_variant BRCA-EU 2 100018102 100018102 single base substitution C T intron_variant BRCA-EU 2 100019599 100019599 single base substitution C G downstream_gene_variant BRCA-EU 2 100019599 100019599 single base substitution C G exon_variant BRCA-EU 2 100019599 100019599 single base substitution C G intron_variant BRCA-EU 2 100020329 100020329 single base substitution A G downstream_gene_variant BRCA-EU 2 100020329 100020329 single base substitution A G intron_variant BRCA-EU 2 100020329 100020329 single base substitution A G upstream_gene_variant BRCA-EU 2 100020500 100020500 deletion of <=200bp A - downstream_gene_variant BRCA-EU 2 100020500 100020500 deletion of <=200bp A - intron_variant BRCA-EU 2 100020500 100020500 deletion of <=200bp A - upstream_gene_variant BRCA-EU 2 100022059 100022059 single base substitution C G downstream_gene_variant BRCA-EU 2 100022059 100022059 single base substitution C G intron_variant BRCA-EU 2 100022059 100022059 single base substitution C G upstream_gene_variant BRCA-EU 2 100022121 100022121 single base substitution G A downstream_gene_variant BRCA-EU 2 100022121 100022121 single base substitution G A intron_variant BRCA-EU 2 100022121 100022121 single base substitution G A upstream_gene_variant BRCA-EU 2 100023614 100023614 single base substitution C G intron_variant BRCA-EU 2 100023614 100023614 single base substitution C G upstream_gene_variant BRCA-EU 2 100023909 100023909 single base substitution G C intron_variant BRCA-EU 2 100023909 100023909 single base substitution G C upstream_gene_variant BRCA-EU 2 100024000 100024000 single base substitution C A intron_variant BRCA-EU 2 100024000 100024000 single base substitution C A upstream_gene_variant BRCA-EU 2 100024049 100024049 single base substitution G C intron_variant BRCA-EU 2 100024049 100024049 single base substitution G C upstream_gene_variant BRCA-EU 2 100024320 100024320 single base substitution C G intron_variant BRCA-EU 2 100024320 100024320 single base substitution C G upstream_gene_variant BRCA-EU 2 100025095 100025095 single base substitution C G intron_variant BRCA-EU 2 100025095 100025095 single base substitution C G upstream_gene_variant BRCA-EU 2 100025558 100025558 single base substitution G C intron_variant BRCA-EU 2 100025558 100025558 single base substitution G C upstream_gene_variant BRCA-EU 2 100026288 100026288 single base substitution G C intron_variant BRCA-EU 2 100026288 100026288 single base substitution G C upstream_gene_variant BRCA-EU 2 100028492 100028492 single base substitution G C intron_variant BRCA-EU 2 100028492 100028492 single base substitution G C upstream_gene_variant BRCA-EU 2 100028942 100028942 single base substitution C T intron_variant BRCA-EU 2 100028942 100028942 single base substitution C T upstream_gene_variant BRCA-EU 2 100029535 100029535 single base substitution C T intron_variant BRCA-EU 2 100029535 100029535 single base substitution C T upstream_gene_variant BRCA-EU 2 100030005 100030005 deletion of <=200bp T - intron_variant BRCA-EU 2 100030005 100030005 deletion of <=200bp T - upstream_gene_variant BRCA-EU 2 100031732 100031732 single base substitution C T downstream_gene_variant BRCA-EU 2 100031732 100031732 single base substitution C T intron_variant BRCA-EU 2 100031732 100031732 single base substitution C T upstream_gene_variant BRCA-EU 2 100032914 100032915 deletion of <=200bp AC - downstream_gene_variant BRCA-EU 2 100032914 100032915 deletion of <=200bp AC - intron_variant BRCA-EU 2 100032914 100032915 deletion of <=200bp AC - upstream_gene_variant BRCA-EU 2 100033055 100033055 single base substitution C G downstream_gene_variant BRCA-EU 2 100033055 100033055 single base substitution C G intron_variant BRCA-EU 2 100033055 100033055 single base substitution C G upstream_gene_variant BRCA-EU 2 100033140 100033140 single base substitution G A downstream_gene_variant BRCA-EU 2 100033140 100033140 single base substitution G A intron_variant BRCA-EU 2 100033140 100033140 single base substitution G A upstream_gene_variant BRCA-EU 2 100033787 100033787 single base substitution G C downstream_gene_variant BRCA-EU 2 100033787 100033787 single base substitution G C intron_variant BRCA-EU 2 100033787 100033787 single base substitution G C upstream_gene_variant BRCA-EU 2 100036523 100036523 deletion of <=200bp G - downstream_gene_variant BRCA-EU 2 100036523 100036523 deletion of <=200bp G - intron_variant BRCA-EU 2 100040224 100040224 single base substitution C G downstream_gene_variant BRCA-EU 2 100040224 100040224 single base substitution C G intron_variant BRCA-EU 2 100040430 100040430 single base substitution G C downstream_gene_variant BRCA-EU 2 100040430 100040430 single base substitution G C intron_variant BRCA-EU 2 100040906 100040906 single base substitution C T downstream_gene_variant BRCA-EU 2 100040906 100040906 single base substitution C T exon_variant BRCA-EU 2 100040906 100040906 single base substitution C T intron_variant BRCA-EU 2 100040962 100040962 single base substitution T A downstream_gene_variant BRCA-EU 2 100040962 100040962 single base substitution T A exon_variant BRCA-EU 2 100040962 100040962 single base substitution T A intron_variant BRCA-EU 2 100041521 100041521 deletion of <=200bp A - intron_variant BRCA-EU 2 100041521 100041521 deletion of <=200bp A - upstream_gene_variant BRCA-EU 2 100041886 100041886 single base substitution G A intron_variant BRCA-EU 2 100041886 100041886 single base substitution G A upstream_gene_variant BRCA-EU 2 100041945 100041945 single base substitution G A intron_variant BRCA-EU 2 100041945 100041945 single base substitution G A upstream_gene_variant BRCA-EU 2 100042027 100042027 single base substitution G C intron_variant BRCA-EU 2 100042027 100042027 single base substitution G C upstream_gene_variant BRCA-EU 2 100043090 100043090 single base substitution G C intron_variant BRCA-EU 2 100043090 100043090 single base substitution G C upstream_gene_variant BRCA-EU 2 100043358 100043358 single base substitution A T downstream_gene_variant BRCA-EU 2 100043358 100043358 single base substitution A T intron_variant BRCA-EU 2 100043358 100043358 single base substitution A T upstream_gene_variant BRCA-EU 2 100043650 100043650 deletion of <=200bp A - downstream_gene_variant BRCA-EU 2 100043650 100043650 deletion of <=200bp A - intron_variant BRCA-EU 2 100043650 100043650 deletion of <=200bp A - upstream_gene_variant BRCA-EU 2 100044010 100044010 single base substitution C A downstream_gene_variant BRCA-EU 2 100044010 100044010 single base substitution C A intron_variant BRCA-EU 2 100044010 100044010 single base substitution C A upstream_gene_variant BRCA-EU 2 100047008 100047008 single base substitution T C downstream_gene_variant BRCA-EU 2 100047008 100047008 single base substitution T C intron_variant BRCA-EU 2 100047133 100047133 single base substitution C G downstream_gene_variant BRCA-EU 2 100047133 100047133 single base substitution C G intron_variant BRCA-EU 2 100048291 100048291 single base substitution T C downstream_gene_variant BRCA-EU 2 100048291 100048291 single base substitution T C exon_variant BRCA-EU 2 100048291 100048291 single base substitution T C intron_variant BRCA-EU 2 100048371 100048371 single base substitution C G downstream_gene_variant BRCA-EU 2 100048371 100048371 single base substitution C G exon_variant BRCA-EU 2 100048371 100048371 single base substitution C G intron_variant BRCA-EU 2 100048384 100048384 single base substitution C T downstream_gene_variant BRCA-EU 2 100048384 100048384 single base substitution C T exon_variant BRCA-EU 2 100048384 100048384 single base substitution C T intron_variant BRCA-EU 2 100048608 100048608 single base substitution G C downstream_gene_variant BRCA-EU 2 100048608 100048608 single base substitution G C intron_variant BRCA-EU 2 100048842 100048842 single base substitution C T downstream_gene_variant BRCA-EU 2 100048842 100048842 single base substitution C T intron_variant BRCA-EU 2 100049112 100049112 single base substitution C G downstream_gene_variant BRCA-EU 2 100049112 100049112 single base substitution C G intron_variant BRCA-EU 2 100051015 100051015 single base substitution T A downstream_gene_variant BRCA-EU 2 100051015 100051015 single base substitution T A intron_variant BRCA-EU 2 100051266 100051266 deletion of <=200bp T - downstream_gene_variant BRCA-EU 2 100051266 100051266 deletion of <=200bp T - intron_variant BRCA-EU 2 100051376 100051376 single base substitution C G downstream_gene_variant BRCA-EU 2 100051376 100051376 single base substitution C G intron_variant BRCA-EU 2 100053228 100053228 single base substitution G A downstream_gene_variant BRCA-EU 2 100053228 100053228 single base substitution G A exon_variant BRCA-EU 2 100053228 100053228 single base substitution G A intron_variant BRCA-EU 2 100053673 100053673 single base substitution G C downstream_gene_variant BRCA-EU 2 100053673 100053673 single base substitution G C intron_variant BRCA-EU 2 100054213 100054213 single base substitution A G downstream_gene_variant BRCA-EU 2 100054213 100054213 single base substitution A G intron_variant BRCA-EU 2 100055388 100055388 single base substitution A G 3_prime_UTR_variant BRCA-EU 2 100055388 100055388 single base substitution A G exon_variant BRCA-EU 2 100055388 100055388 single base substitution A G synonymous_variant N296N 888T>C BRCA-EU 2 100055388 100055388 single base substitution A G upstream_gene_variant BRCA-EU 2 100056191 100056191 single base substitution G A intron_variant BRCA-EU 2 100056191 100056191 single base substitution G A upstream_gene_variant BRCA-EU 2 100056362 100056362 single base substitution G T intron_variant BRCA-EU 2 100056362 100056362 single base substitution G T upstream_gene_variant BRCA-EU 2 100056485 100056485 deletion of <=200bp A - intron_variant BRCA-EU 2 100056485 100056485 deletion of <=200bp A - upstream_gene_variant BRCA-EU 2 100056869 100056869 single base substitution C A intron_variant BRCA-EU 2 100056869 100056869 single base substitution C A upstream_gene_variant BRCA-EU 2 100056875 100056875 single base substitution C G intron_variant BRCA-EU 2 100056875 100056875 single base substitution C G upstream_gene_variant BRCA-EU 2 100056880 100056880 single base substitution A G intron_variant BRCA-EU 2 100056880 100056880 single base substitution A G upstream_gene_variant BRCA-EU 2 100057783 100057783 insertion of <=200bp - A intron_variant BRCA-EU 2 100057783 100057783 insertion of <=200bp - A upstream_gene_variant BRCA-EU 2 100059727 100059727 single base substitution A T intron_variant BRCA-EU 2 100059727 100059727 single base substitution A T upstream_gene_variant BRCA-EU 2 100060339 100060339 single base substitution C A intron_variant BRCA-EU 2 100062564 100062564 single base substitution T C intron_variant BRCA-EU 2 100063751 100063751 single base substitution C A intron_variant BRCA-EU 2 100063969 100063969 single base substitution G C intron_variant BRCA-EU 2 100064366 100064366 single base substitution G A intron_variant BRCA-EU 2 100067041 100067041 single base substitution T C intron_variant BRCA-EU 2 100068570 100068570 single base substitution C T intron_variant BRCA-EU 2 100068570 100068570 single base substitution C T upstream_gene_variant BRCA-EU 2 100068676 100068676 single base substitution C A intron_variant BRCA-EU 2 100068676 100068676 single base substitution C A upstream_gene_variant BRCA-EU 2 100069396 100069396 single base substitution G A intron_variant BRCA-EU 2 100069396 100069396 single base substitution G A upstream_gene_variant BRCA-EU 2 100070463 100070463 single base substitution A G intron_variant BRCA-EU 2 100070463 100070463 single base substitution A G upstream_gene_variant BRCA-EU 2 100072249 100072249 single base substitution G A intron_variant BRCA-EU 2 100072249 100072249 single base substitution G A upstream_gene_variant BRCA-EU 2 100072654 100072654 single base substitution C G intron_variant BRCA-EU 2 100072654 100072654 single base substitution C G upstream_gene_variant BRCA-EU 2 100073200 100073200 single base substitution T A intron_variant BRCA-EU 2 100074441 100074441 single base substitution T C intron_variant BRCA-EU 2 100076697 100076697 single base substitution C T intron_variant BRCA-EU 2 100076808 100076808 single base substitution A G intron_variant BRCA-EU 2 100079874 100079874 single base substitution A G intron_variant BRCA-EU 2 100079874 100079874 single base substitution A G upstream_gene_variant BRCA-EU 2 100079906 100079906 single base substitution A G intron_variant BRCA-EU 2 100079906 100079906 single base substitution A G upstream_gene_variant BRCA-EU 2 100079908 100079908 single base substitution A G intron_variant BRCA-EU 2 100079908 100079908 single base substitution A G upstream_gene_variant BRCA-EU 2 100080074 100080074 single base substitution T A intron_variant BRCA-EU 2 100080074 100080074 single base substitution T A upstream_gene_variant BRCA-EU 2 100081410 100081410 single base substitution C A exon_variant BRCA-EU 2 100081410 100081410 single base substitution C A missense_variant A10S 28G>T BRCA-EU 2 100081410 100081410 single base substitution C A upstream_gene_variant BRCA-EU 2 100082438 100082438 single base substitution C G intron_variant BRCA-EU 2 100082438 100082438 single base substitution C G upstream_gene_variant BRCA-EU 2 100082789 100082789 single base substitution C T intron_variant BRCA-EU 2 100082789 100082789 single base substitution C T upstream_gene_variant BRCA-EU 2 100082803 100082803 single base substitution C T intron_variant BRCA-EU 2 100082803 100082803 single base substitution C T upstream_gene_variant BRCA-EU 2 100083883 100083883 single base substitution C G intron_variant BRCA-EU 2 100083883 100083883 single base substitution C G upstream_gene_variant BRCA-EU 2 100084173 100084173 single base substitution G A intron_variant BRCA-EU 2 100084173 100084173 single base substitution G A upstream_gene_variant BRCA-EU 2 100084567 100084567 single base substitution G A intron_variant BRCA-EU 2 100084817 100084817 single base substitution G A intron_variant BRCA-EU 2 100085579 100085579 single base substitution G A intron_variant BRCA-EU 2 100087758 100087809 deletion of <=200bp TCATCTGTGTTTAAAAGAACCTCTTCATGACCATTCAATGAGGAAAGGACAA - intron_variant BRCA-EU 2 100087880 100087880 deletion of <=200bp A - intron_variant BRCA-EU 2 100088510 100088510 single base substitution G C intron_variant BRCA-EU 2 100090272 100090272 single base substitution T G intron_variant BRCA-EU 2 100091102 100091102 single base substitution G A intron_variant BRCA-EU 2 100091162 100091162 single base substitution G A intron_variant BRCA-EU 2 100091920 100091920 single base substitution T A intron_variant BRCA-EU 2 100092340 100092340 single base substitution G A intron_variant BRCA-EU 2 100093119 100093119 single base substitution G A intron_variant BRCA-EU 2 100094384 100094384 single base substitution G C intron_variant BRCA-EU 2 100097853 100097853 deletion of <=200bp A - intron_variant BRCA-EU 2 100099433 100099433 single base substitution C T intron_variant BRCA-EU 2 100099496 100099497 deletion of <=200bp AT - intron_variant BRCA-EU 2 100100232 100100232 single base substitution C T intron_variant BRCA-EU 2 100100252 100100252 deletion of <=200bp A - intron_variant BRCA-EU 2 100100587 100100587 single base substitution C A intron_variant BRCA-EU 2 100101997 100101997 single base substitution C G intron_variant BRCA-EU 2 100102084 100102084 single base substitution G T intron_variant BRCA-EU 2 100103329 100103329 single base substitution G A intron_variant BRCA-EU 2 100103490 100103490 single base substitution G A intron_variant BRCA-EU 2 100104645 100104645 single base substitution T A intron_variant BRCA-EU 2 100105366 100105366 deletion of <=200bp G - intron_variant BRCA-EU 2 100105482 100105482 single base substitution T C intron_variant BRCA-EU 2 100107347 100107347 single base substitution C G upstream_gene_variant BRCA-EU 2 100107673 100107673 single base substitution G C upstream_gene_variant BRCA-EU 2 100107734 100107734 single base substitution G A upstream_gene_variant BRCA-EU 2 100108134 100108134 single base substitution T C upstream_gene_variant BRCA-EU 2 100108391 100108391 deletion of <=200bp A - upstream_gene_variant BRCA-EU 2 100109058 100109058 single base substitution C G upstream_gene_variant BRCA-FR 2 100023909 100023909 single base substitution G C intron_variant BRCA-FR 2 100023909 100023909 single base substitution G C upstream_gene_variant BRCA-FR 2 100024049 100024049 single base substitution G C intron_variant BRCA-FR 2 100024049 100024049 single base substitution G C upstream_gene_variant BRCA-FR 2 100025095 100025095 single base substitution C G intron_variant BRCA-FR 2 100025095 100025095 single base substitution C G upstream_gene_variant BRCA-FR 2 100025558 100025558 single base substitution G C intron_variant BRCA-FR 2 100025558 100025558 single base substitution G C upstream_gene_variant BRCA-FR 2 100028492 100028492 single base substitution G C intron_variant BRCA-FR 2 100028492 100028492 single base substitution G C upstream_gene_variant BRCA-FR 2 100041945 100041945 single base substitution G A intron_variant BRCA-FR 2 100041945 100041945 single base substitution G A upstream_gene_variant BRCA-FR 2 100045229 100045229 single base substitution G A downstream_gene_variant BRCA-FR 2 100045229 100045229 single base substitution G A intron_variant BRCA-FR 2 100045229 100045229 single base substitution G A upstream_gene_variant BRCA-FR 2 100067629 100067629 single base substitution T C intron_variant BRCA-FR 2 100068570 100068570 single base substitution C T intron_variant BRCA-FR 2 100068570 100068570 single base substitution C T upstream_gene_variant BRCA-FR 2 100082438 100082438 single base substitution C G intron_variant BRCA-FR 2 100082438 100082438 single base substitution C G upstream_gene_variant BRCA-FR 2 100082789 100082789 single base substitution C T intron_variant BRCA-FR 2 100082789 100082789 single base substitution C T upstream_gene_variant BRCA-FR 2 100082803 100082803 single base substitution C T intron_variant BRCA-FR 2 100082803 100082803 single base substitution C T upstream_gene_variant BRCA-FR 2 100084657 100084657 single base substitution G C intron_variant BRCA-FR 2 100084817 100084817 single base substitution G A intron_variant BRCA-FR 2 100085579 100085579 single base substitution G A intron_variant BRCA-FR 2 100091162 100091162 single base substitution G A intron_variant BRCA-FR 2 100093640 100093640 single base substitution G A intron_variant BRCA-UK 2 100024506 100024506 single base substitution T C 3_prime_UTR_variant BRCA-UK 2 100024506 100024506 single base substitution T C exon_variant BRCA-UK 2 100024506 100024506 single base substitution T C intron_variant BRCA-UK 2 100024506 100024506 single base substitution T C missense_variant I810M 2430A>G BRCA-UK 2 100024506 100024506 single base substitution T C missense_variant I811M 2433A>G BRCA-UK 2 100024506 100024506 single base substitution T C upstream_gene_variant BRCA-UK 2 100028942 100028942 single base substitution C T intron_variant BRCA-UK 2 100028942 100028942 single base substitution C T upstream_gene_variant BRCA-UK 2 100043358 100043358 single base substitution A T downstream_gene_variant BRCA-UK 2 100043358 100043358 single base substitution A T intron_variant BRCA-UK 2 100043358 100043358 single base substitution A T upstream_gene_variant BRCA-UK 2 100046710 100046710 single base substitution G C downstream_gene_variant BRCA-UK 2 100046710 100046710 single base substitution G C intron_variant BRCA-UK 2 100060339 100060339 single base substitution C A intron_variant BRCA-UK 2 100063751 100063751 single base substitution C A intron_variant BRCA-UK 2 100069396 100069396 single base substitution G A intron_variant BRCA-UK 2 100069396 100069396 single base substitution G A upstream_gene_variant BRCA-UK 2 100090647 100090647 single base substitution G T intron_variant BRCA-UK 2 100107673 100107673 single base substitution G C upstream_gene_variant BRCA-US 2 100013281 100013281 single base substitution C G downstream_gene_variant BRCA-US 2 100015796 100015796 single base substitution C G downstream_gene_variant BRCA-US 2 100019234 100019234 single base substitution C G 3_prime_UTR_variant BRCA-US 2 100019234 100019234 single base substitution C G downstream_gene_variant BRCA-US 2 100019234 100019234 single base substitution C G exon_variant BRCA-US 2 100019234 100019234 single base substitution C G intron_variant BRCA-US 2 100019234 100019234 single base substitution C G synonymous_variant V1137V 3411G>C BRCA-US 2 100019234 100019234 single base substitution C G synonymous_variant V1138V 3414G>C BRCA-US 2 100019354 100019354 single base substitution G A downstream_gene_variant BRCA-US 2 100019354 100019354 single base substitution G A intron_variant BRCA-US 2 100019354 100019354 single base substitution G A splice_region_variant BRCA-US 2 100019354 100019354 single base substitution G C downstream_gene_variant BRCA-US 2 100019354 100019354 single base substitution G C intron_variant BRCA-US 2 100019354 100019354 single base substitution G C missense_variant L1127V 3379C>G BRCA-US 2 100019354 100019354 single base substitution G C missense_variant L1128V 3382C>G BRCA-US 2 100019354 100019354 single base substitution G C splice_region_variant BRCA-US 2 100019368 100019368 single base substitution G T 3_prime_UTR_variant BRCA-US 2 100019368 100019368 single base substitution G T downstream_gene_variant BRCA-US 2 100019368 100019368 single base substitution G T exon_variant BRCA-US 2 100019368 100019368 single base substitution G T intron_variant BRCA-US 2 100019368 100019368 single base substitution G T missense_variant P1122H 3365C>A BRCA-US 2 100019368 100019368 single base substitution G T missense_variant P1123H 3368C>A BRCA-US 2 100029360 100029360 single base substitution C T 3_prime_UTR_variant BRCA-US 2 100029360 100029360 single base substitution C T exon_variant BRCA-US 2 100029360 100029360 single base substitution C T missense_variant G668R 2002G>A BRCA-US 2 100029360 100029360 single base substitution C T missense_variant G669R 2005G>A BRCA-US 2 100029360 100029360 single base substitution C T upstream_gene_variant BRCA-US 2 100046338 100046338 single base substitution G C 3_prime_UTR_variant BRCA-US 2 100046338 100046338 single base substitution G C downstream_gene_variant BRCA-US 2 100046338 100046338 single base substitution G C exon_variant BRCA-US 2 100046338 100046338 single base substitution G C stop_gained S141* 422C>G BRCA-US 2 100046338 100046338 single base substitution G C stop_gained S503* 1508C>G BRCA-US 2 100046338 100046338 single base substitution G C stop_gained S504* 1511C>G BRCA-US 2 100050895 100050895 single base substitution A C 3_prime_UTR_variant BRCA-US 2 100050895 100050895 single base substitution A C downstream_gene_variant BRCA-US 2 100050895 100050895 single base substitution A C exon_variant BRCA-US 2 100050895 100050895 single base substitution A C missense_variant V446G 1337T>G BRCA-US 2 100050895 100050895 single base substitution A C missense_variant V84G 251T>G BRCA-US 2 100055545 100055545 single base substitution G A 3_prime_UTR_variant BRCA-US 2 100055545 100055545 single base substitution G A exon_variant BRCA-US 2 100055545 100055545 single base substitution G A missense_variant P244L 731C>T BRCA-US 2 100055545 100055545 single base substitution G A upstream_gene_variant BRCA-US 2 100065947 100065947 single base substitution C T 3_prime_UTR_variant BRCA-US 2 100065947 100065947 single base substitution C T exon_variant BRCA-US 2 100065947 100065947 single base substitution C T synonymous_variant L67L 201G>A BTCA-JP 2 100019501 100019501 insertion of <=200bp - T 3_prime_UTR_variant BTCA-JP 2 100019501 100019501 insertion of <=200bp - T downstream_gene_variant BTCA-JP 2 100019501 100019501 insertion of <=200bp - T exon_variant BTCA-JP 2 100019501 100019501 insertion of <=200bp - T frameshift_variant T1078N? BTCA-JP 2 100019501 100019501 insertion of <=200bp - T frameshift_variant T1079N? BTCA-JP 2 100019501 100019501 insertion of <=200bp - T intron_variant BTCA-JP 2 100020997 100020997 single base substitution T G 3_prime_UTR_variant BTCA-JP 2 100020997 100020997 single base substitution T G downstream_gene_variant BTCA-JP 2 100020997 100020997 single base substitution T G exon_variant BTCA-JP 2 100020997 100020997 single base substitution T G intron_variant BTCA-JP 2 100020997 100020997 single base substitution T G synonymous_variant P984P 2952A>C BTCA-JP 2 100020997 100020997 single base substitution T G synonymous_variant P985P 2955A>C BTCA-JP 2 100020997 100020997 single base substitution T G upstream_gene_variant BTCA-JP 2 100024447 100024447 single base substitution T C intron_variant BTCA-JP 2 100024447 100024447 single base substitution T C upstream_gene_variant BTCA-JP 2 100035415 100035415 deletion of <=200bp A - intron_variant BTCA-JP 2 100035415 100035415 deletion of <=200bp A - splice_region_variant BTCA-JP 2 100050923 100050923 single base substitution T A downstream_gene_variant BTCA-JP 2 100050923 100050923 single base substitution T A intron_variant BTCA-JP 2 100052330 100052330 insertion of <=200bp - T 3_prime_UTR_variant BTCA-JP 2 100052330 100052330 insertion of <=200bp - T downstream_gene_variant BTCA-JP 2 100052330 100052330 insertion of <=200bp - T exon_variant BTCA-JP 2 100052330 100052330 insertion of <=200bp - T frameshift_variant V429V? BTCA-JP 2 100052330 100052330 insertion of <=200bp - T frameshift_variant V67V? BTCA-JP 2 100055162 100055162 single base substitution C A 3_prime_UTR_variant BTCA-JP 2 100055162 100055162 single base substitution C A exon_variant BTCA-JP 2 100055162 100055162 single base substitution C A missense_variant V10F 28G>T BTCA-JP 2 100055162 100055162 single base substitution C A missense_variant V372F 1114G>T BTCA-JP 2 100055162 100055162 single base substitution C A upstream_gene_variant BTCA-JP 2 100058839 100058839 single base substitution C T 3_prime_UTR_variant BTCA-JP 2 100058839 100058839 single base substitution C T exon_variant BTCA-JP 2 100058839 100058839 single base substitution C T missense_variant C148Y 443G>A BTCA-JP 2 100058839 100058839 single base substitution C T upstream_gene_variant BTCA-JP 2 100065919 100065919 single base substitution G A 3_prime_UTR_variant BTCA-JP 2 100065919 100065919 single base substitution G A exon_variant BTCA-JP 2 100065919 100065919 single base substitution G A stop_gained Q77* 229C>T BTCA-JP 2 100067886 100067886 single base substitution A C 3_prime_UTR_variant BTCA-JP 2 100067886 100067886 single base substitution A C exon_variant BTCA-JP 2 100067886 100067886 single base substitution A C intron_variant BTCA-JP 2 100068069 100068069 single base substitution T C intron_variant BTCA-JP 2 100068069 100068069 single base substitution T C upstream_gene_variant CESC-US 2 100013320 100013320 single base substitution C T downstream_gene_variant CESC-US 2 100040681 100040681 single base substitution G A 3_prime_UTR_variant CESC-US 2 100040681 100040681 single base substitution G A downstream_gene_variant CESC-US 2 100040681 100040681 single base substitution G A exon_variant CESC-US 2 100040681 100040681 single base substitution G A stop_gained Q536* 1606C>T CESC-US 2 100040681 100040681 single base substitution G A stop_gained Q537* 1609C>T CESC-US 2 100058894 100058894 single base substitution G C 3_prime_UTR_variant CESC-US 2 100058894 100058894 single base substitution G C exon_variant CESC-US 2 100058894 100058894 single base substitution G C missense_variant Q130E 388C>G CESC-US 2 100058894 100058894 single base substitution G C upstream_gene_variant CLLE-ES 2 100012041 100012041 single base substitution A C downstream_gene_variant CLLE-ES 2 100033951 100033951 single base substitution G A downstream_gene_variant CLLE-ES 2 100033951 100033951 single base substitution G A intron_variant CLLE-ES 2 100033951 100033951 single base substitution G A upstream_gene_variant CLLE-ES 2 100039939 100039939 single base substitution T C downstream_gene_variant CLLE-ES 2 100039939 100039939 single base substitution T C intron_variant CLLE-ES 2 100090970 100090970 single base substitution T C intron_variant CLLE-ES 2 100092508 100092508 single base substitution C T intron_variant CLLE-ES 2 100103701 100103701 single base substitution C T intron_variant COAD-US 2 100019358 100019358 single base substitution T C 3_prime_UTR_variant COAD-US 2 100019358 100019358 single base substitution T C downstream_gene_variant COAD-US 2 100019358 100019358 single base substitution T C exon_variant COAD-US 2 100019358 100019358 single base substitution T C intron_variant COAD-US 2 100019358 100019358 single base substitution T C synonymous_variant K1125K 3375A>G COAD-US 2 100019358 100019358 single base substitution T C synonymous_variant K1126K 3378A>G COAD-US 2 100019501 100019501 deletion of <=200bp T - 3_prime_UTR_variant COAD-US 2 100019501 100019501 deletion of <=200bp T - downstream_gene_variant COAD-US 2 100019501 100019501 deletion of <=200bp T - exon_variant COAD-US 2 100019501 100019501 deletion of <=200bp T - frameshift_variant T1078 COAD-US 2 100019501 100019501 deletion of <=200bp T - frameshift_variant T1079 COAD-US 2 100019501 100019501 deletion of <=200bp T - intron_variant COAD-US 2 100019566 100019566 single base substitution G A 3_prime_UTR_variant COAD-US 2 100019566 100019566 single base substitution G A downstream_gene_variant COAD-US 2 100019566 100019566 single base substitution G A exon_variant COAD-US 2 100019566 100019566 single base substitution G A intron_variant COAD-US 2 100019566 100019566 single base substitution G A missense_variant P1056L 3167C>T COAD-US 2 100019566 100019566 single base substitution G A missense_variant P1057L 3170C>T COAD-US 2 100021045 100021045 single base substitution T G 3_prime_UTR_variant COAD-US 2 100021045 100021045 single base substitution T G downstream_gene_variant COAD-US 2 100021045 100021045 single base substitution T G exon_variant COAD-US 2 100021045 100021045 single base substitution T G intron_variant COAD-US 2 100021045 100021045 single base substitution T G missense_variant K968N 2904A>C COAD-US 2 100021045 100021045 single base substitution T G missense_variant K969N 2907A>C COAD-US 2 100021045 100021045 single base substitution T G upstream_gene_variant COAD-US 2 100022814 100022814 single base substitution T C 3_prime_UTR_variant COAD-US 2 100022814 100022814 single base substitution T C exon_variant COAD-US 2 100022814 100022814 single base substitution T C intron_variant COAD-US 2 100022814 100022814 single base substitution T C missense_variant K862E 2584A>G COAD-US 2 100022814 100022814 single base substitution T C missense_variant K863E 2587A>G COAD-US 2 100022814 100022814 single base substitution T C upstream_gene_variant COAD-US 2 100050819 100050819 single base substitution C A 3_prime_UTR_variant COAD-US 2 100050819 100050819 single base substitution C A downstream_gene_variant COAD-US 2 100050819 100050819 single base substitution C A exon_variant COAD-US 2 100050819 100050819 single base substitution C A missense_variant Q109H 327G>T COAD-US 2 100050819 100050819 single base substitution C A missense_variant Q471H 1413G>T COAD-US 2 100052380 100052380 single base substitution G A 3_prime_UTR_variant COAD-US 2 100052380 100052380 single base substitution G A downstream_gene_variant COAD-US 2 100052380 100052380 single base substitution G A exon_variant COAD-US 2 100052380 100052380 single base substitution G A missense_variant P413S 1237C>T COAD-US 2 100052380 100052380 single base substitution G A missense_variant P51S 151C>T COAD-US 2 100055102 100055102 deletion of <=200bp T - 3_prime_UTR_variant COAD-US 2 100055102 100055102 deletion of <=200bp T - exon_variant COAD-US 2 100055102 100055102 deletion of <=200bp T - frameshift_variant M30 COAD-US 2 100055102 100055102 deletion of <=200bp T - frameshift_variant M392 COAD-US 2 100055158 100055158 single base substitution T C 3_prime_UTR_variant COAD-US 2 100055158 100055158 single base substitution T C exon_variant COAD-US 2 100055158 100055158 single base substitution T C missense_variant N11S 32A>G COAD-US 2 100055158 100055158 single base substitution T C missense_variant N373S 1118A>G COAD-US 2 100055158 100055158 single base substitution T C upstream_gene_variant COAD-US 2 100058870 100058870 single base substitution C T 3_prime_UTR_variant COAD-US 2 100058870 100058870 single base substitution C T exon_variant COAD-US 2 100058870 100058870 single base substitution C T missense_variant V138M 412G>A COAD-US 2 100058870 100058870 single base substitution C T upstream_gene_variant COCA-CN 2 100017860 100017860 single base substitution T C downstream_gene_variant COCA-CN 2 100017860 100017860 single base substitution T C intron_variant COCA-CN 2 100019045 100019045 single base substitution G A 3_prime_UTR_variant COCA-CN 2 100019045 100019045 single base substitution G A downstream_gene_variant COCA-CN 2 100019045 100019045 single base substitution G A exon_variant COCA-CN 2 100019045 100019045 single base substitution G A intron_variant COCA-CN 2 100019503 100019503 single base substitution T G 3_prime_UTR_variant COCA-CN 2 100019503 100019503 single base substitution T G downstream_gene_variant COCA-CN 2 100019503 100019503 single base substitution T G exon_variant COCA-CN 2 100019503 100019503 single base substitution T G intron_variant COCA-CN 2 100019503 100019503 single base substitution T G missense_variant K1077T 3230A>C COCA-CN 2 100019503 100019503 single base substitution T G missense_variant K1078T 3233A>C COCA-CN 2 100022486 100022486 single base substitution C T 3_prime_UTR_variant COCA-CN 2 100022486 100022486 single base substitution C T downstream_gene_variant COCA-CN 2 100022486 100022486 single base substitution C T exon_variant COCA-CN 2 100022486 100022486 single base substitution C T intron_variant COCA-CN 2 100022486 100022486 single base substitution C T synonymous_variant P898P 2694G>A COCA-CN 2 100022486 100022486 single base substitution C T synonymous_variant P899P 2697G>A COCA-CN 2 100022486 100022486 single base substitution C T upstream_gene_variant COCA-CN 2 100022513 100022513 single base substitution G T 3_prime_UTR_variant COCA-CN 2 100022513 100022513 single base substitution G T downstream_gene_variant COCA-CN 2 100022513 100022513 single base substitution G T exon_variant COCA-CN 2 100022513 100022513 single base substitution G T intron_variant COCA-CN 2 100022513 100022513 single base substitution G T missense_variant F889L 2667C>A COCA-CN 2 100022513 100022513 single base substitution G T missense_variant F890L 2670C>A COCA-CN 2 100022513 100022513 single base substitution G T upstream_gene_variant COCA-CN 2 100029380 100029380 single base substitution G T 3_prime_UTR_variant COCA-CN 2 100029380 100029380 single base substitution G T exon_variant COCA-CN 2 100029380 100029380 single base substitution G T missense_variant S661Y 1982C>A COCA-CN 2 100029380 100029380 single base substitution G T missense_variant S662Y 1985C>A COCA-CN 2 100029380 100029380 single base substitution G T upstream_gene_variant COCA-CN 2 100050804 100050804 single base substitution T A 3_prime_UTR_variant COCA-CN 2 100050804 100050804 single base substitution T A downstream_gene_variant COCA-CN 2 100050804 100050804 single base substitution T A exon_variant COCA-CN 2 100050804 100050804 single base substitution T A missense_variant K114N 342A>T COCA-CN 2 100050804 100050804 single base substitution T A missense_variant K476N 1428A>T COCA-CN 2 100052483 100052483 single base substitution T G downstream_gene_variant COCA-CN 2 100052483 100052483 single base substitution T G intron_variant COCA-CN 2 100055486 100055486 single base substitution C T 3_prime_UTR_variant COCA-CN 2 100055486 100055486 single base substitution C T exon_variant COCA-CN 2 100055486 100055486 single base substitution C T missense_variant A264T 790G>A COCA-CN 2 100055486 100055486 single base substitution C T upstream_gene_variant COCA-CN 2 100055832 100055832 single base substitution T G intron_variant COCA-CN 2 100055832 100055832 single base substitution T G upstream_gene_variant COCA-CN 2 100058728 100058728 single base substitution A C intron_variant COCA-CN 2 100058728 100058728 single base substitution A C upstream_gene_variant COCA-CN 2 100058800 100058800 single base substitution G T 3_prime_UTR_variant COCA-CN 2 100058800 100058800 single base substitution G T exon_variant COCA-CN 2 100058800 100058800 single base substitution G T missense_variant A161D 482C>A COCA-CN 2 100058800 100058800 single base substitution G T upstream_gene_variant COCA-CN 2 100065844 100065844 single base substitution C A 3_prime_UTR_variant COCA-CN 2 100065844 100065844 single base substitution C A exon_variant COCA-CN 2 100065844 100065844 single base substitution C A stop_gained E102* 304G>T COCA-CN 2 100068069 100068069 single base substitution T C intron_variant COCA-CN 2 100068069 100068069 single base substitution T C upstream_gene_variant COCA-CN 2 100079154 100079154 single base substitution A T exon_variant COCA-CN 2 100079154 100079154 single base substitution A T intron_variant COCA-CN 2 100079165 100079165 single base substitution T G exon_variant COCA-CN 2 100079165 100079165 single base substitution T G intron_variant COCA-CN 2 100081423 100081423 single base substitution T C exon_variant COCA-CN 2 100081423 100081423 single base substitution T C synonymous_variant G5G 15A>G COCA-CN 2 100081423 100081423 single base substitution T C upstream_gene_variant ESAD-UK 2 100012887 100012887 single base substitution C T downstream_gene_variant ESAD-UK 2 100014772 100014772 single base substitution G T downstream_gene_variant ESAD-UK 2 100014909 100014909 single base substitution G A downstream_gene_variant ESAD-UK 2 100018238 100018238 single base substitution A T downstream_gene_variant ESAD-UK 2 100018238 100018238 single base substitution A T intron_variant ESAD-UK 2 100018882 100018882 single base substitution A C 3_prime_UTR_variant ESAD-UK 2 100018882 100018882 single base substitution A C downstream_gene_variant ESAD-UK 2 100018882 100018882 single base substitution A C intron_variant ESAD-UK 2 100020346 100020346 single base substitution C T downstream_gene_variant ESAD-UK 2 100020346 100020346 single base substitution C T intron_variant ESAD-UK 2 100020346 100020346 single base substitution C T upstream_gene_variant ESAD-UK 2 100021057 100021057 single base substitution T C 3_prime_UTR_variant ESAD-UK 2 100021057 100021057 single base substitution T C downstream_gene_variant ESAD-UK 2 100021057 100021057 single base substitution T C exon_variant ESAD-UK 2 100021057 100021057 single base substitution T C intron_variant ESAD-UK 2 100021057 100021057 single base substitution T C synonymous_variant S964S 2892A>G ESAD-UK 2 100021057 100021057 single base substitution T C synonymous_variant S965S 2895A>G ESAD-UK 2 100021057 100021057 single base substitution T C upstream_gene_variant ESAD-UK 2 100022085 100022085 single base substitution C T downstream_gene_variant ESAD-UK 2 100022085 100022085 single base substitution C T intron_variant ESAD-UK 2 100022085 100022085 single base substitution C T upstream_gene_variant ESAD-UK 2 100024148 100024148 single base substitution G A intron_variant ESAD-UK 2 100024148 100024148 single base substitution G A upstream_gene_variant ESAD-UK 2 100024158 100024158 single base substitution G T intron_variant ESAD-UK 2 100024158 100024158 single base substitution G T upstream_gene_variant ESAD-UK 2 100025679 100025679 deletion of <=200bp A - intron_variant ESAD-UK 2 100025679 100025679 deletion of <=200bp A - upstream_gene_variant ESAD-UK 2 100027114 100027114 single base substitution T C intron_variant ESAD-UK 2 100027114 100027114 single base substitution T C upstream_gene_variant ESAD-UK 2 100030866 100030866 single base substitution T C downstream_gene_variant ESAD-UK 2 100030866 100030866 single base substitution T C intron_variant ESAD-UK 2 100030866 100030866 single base substitution T C upstream_gene_variant ESAD-UK 2 100031408 100031408 single base substitution C T downstream_gene_variant ESAD-UK 2 100031408 100031408 single base substitution C T intron_variant ESAD-UK 2 100031408 100031408 single base substitution C T upstream_gene_variant ESAD-UK 2 100033164 100033164 single base substitution G A downstream_gene_variant ESAD-UK 2 100033164 100033164 single base substitution G A intron_variant ESAD-UK 2 100033164 100033164 single base substitution G A upstream_gene_variant ESAD-UK 2 100034973 100034973 single base substitution T C downstream_gene_variant ESAD-UK 2 100034973 100034973 single base substitution T C intron_variant ESAD-UK 2 100035044 100035044 single base substitution C T downstream_gene_variant ESAD-UK 2 100035044 100035044 single base substitution C T intron_variant ESAD-UK 2 100035558 100035558 single base substitution A G intron_variant ESAD-UK 2 100035774 100035774 single base substitution C T intron_variant ESAD-UK 2 100036088 100036088 single base substitution G A intron_variant ESAD-UK 2 100037818 100037818 single base substitution C T downstream_gene_variant ESAD-UK 2 100037818 100037818 single base substitution C T intron_variant ESAD-UK 2 100040736 100040736 single base substitution A C 3_prime_UTR_variant ESAD-UK 2 100040736 100040736 single base substitution A C downstream_gene_variant ESAD-UK 2 100040736 100040736 single base substitution A C exon_variant ESAD-UK 2 100040736 100040736 single base substitution A C synonymous_variant L517L 1551T>G ESAD-UK 2 100040736 100040736 single base substitution A C synonymous_variant L518L 1554T>G ESAD-UK 2 100041478 100041478 single base substitution C G intron_variant ESAD-UK 2 100041478 100041478 single base substitution C G upstream_gene_variant ESAD-UK 2 100041563 100041563 single base substitution T A intron_variant ESAD-UK 2 100041563 100041563 single base substitution T A upstream_gene_variant ESAD-UK 2 100041878 100041878 single base substitution C T intron_variant ESAD-UK 2 100041878 100041878 single base substitution C T upstream_gene_variant ESAD-UK 2 100042109 100042109 single base substitution T C intron_variant ESAD-UK 2 100042109 100042109 single base substitution T C upstream_gene_variant ESAD-UK 2 100042483 100042483 single base substitution A G intron_variant ESAD-UK 2 100042483 100042483 single base substitution A G upstream_gene_variant ESAD-UK 2 100043145 100043145 insertion of <=200bp - A intron_variant ESAD-UK 2 100043145 100043145 insertion of <=200bp - A upstream_gene_variant ESAD-UK 2 100044742 100044742 single base substitution A C downstream_gene_variant ESAD-UK 2 100044742 100044742 single base substitution A C intron_variant ESAD-UK 2 100044742 100044742 single base substitution A C upstream_gene_variant ESAD-UK 2 100045071 100045071 insertion of <=200bp - A downstream_gene_variant ESAD-UK 2 100045071 100045071 insertion of <=200bp - A intron_variant ESAD-UK 2 100045071 100045071 insertion of <=200bp - A upstream_gene_variant ESAD-UK 2 100047170 100047170 single base substitution C G downstream_gene_variant ESAD-UK 2 100047170 100047170 single base substitution C G intron_variant ESAD-UK 2 100048384 100048384 single base substitution C A downstream_gene_variant ESAD-UK 2 100048384 100048384 single base substitution C A exon_variant ESAD-UK 2 100048384 100048384 single base substitution C A intron_variant ESAD-UK 2 100051294 100051294 single base substitution C G downstream_gene_variant ESAD-UK 2 100051294 100051294 single base substitution C G intron_variant ESAD-UK 2 100065957 100065957 single base substitution G T 3_prime_UTR_variant ESAD-UK 2 100065957 100065957 single base substitution G T exon_variant ESAD-UK 2 100065957 100065957 single base substitution G T missense_variant A64D 191C>A ESAD-UK 2 100067716 100067716 single base substitution G T intron_variant ESAD-UK 2 100069399 100069399 single base substitution A C intron_variant ESAD-UK 2 100069399 100069399 single base substitution A C upstream_gene_variant ESAD-UK 2 100070226 100070226 single base substitution G A intron_variant ESAD-UK 2 100070226 100070226 single base substitution G A upstream_gene_variant ESAD-UK 2 100070510 100070510 single base substitution G C intron_variant ESAD-UK 2 100070510 100070510 single base substitution G C upstream_gene_variant ESAD-UK 2 100070858 100070858 single base substitution C A intron_variant ESAD-UK 2 100070858 100070858 single base substitution C A upstream_gene_variant ESAD-UK 2 100071109 100071109 single base substitution A G intron_variant ESAD-UK 2 100071109 100071109 single base substitution A G upstream_gene_variant ESAD-UK 2 100073267 100073267 single base substitution A T intron_variant ESAD-UK 2 100073896 100073896 single base substitution C T intron_variant ESAD-UK 2 100074818 100074818 single base substitution A G intron_variant ESAD-UK 2 100075333 100075333 single base substitution G A intron_variant ESAD-UK 2 100076600 100076600 single base substitution G A intron_variant ESAD-UK 2 100077976 100077976 single base substitution G A intron_variant ESAD-UK 2 100078815 100078815 single base substitution A G intron_variant ESAD-UK 2 100080164 100080164 single base substitution G A intron_variant ESAD-UK 2 100080164 100080164 single base substitution G A upstream_gene_variant ESAD-UK 2 100080992 100080992 single base substitution G T intron_variant ESAD-UK 2 100080992 100080992 single base substitution G T upstream_gene_variant ESAD-UK 2 100082715 100082715 deletion of <=200bp T - intron_variant ESAD-UK 2 100082715 100082715 deletion of <=200bp T - upstream_gene_variant ESAD-UK 2 100083771 100083771 single base substitution A C intron_variant ESAD-UK 2 100083771 100083771 single base substitution A C upstream_gene_variant ESAD-UK 2 100088670 100088670 single base substitution G T intron_variant ESAD-UK 2 100090103 100090103 deletion of <=200bp T - intron_variant ESAD-UK 2 100094262 100094262 deletion of <=200bp A - intron_variant ESAD-UK 2 100095558 100095558 single base substitution G A intron_variant ESAD-UK 2 100096561 100096561 single base substitution G A intron_variant ESAD-UK 2 100097111 100097111 single base substitution A C intron_variant ESAD-UK 2 100100432 100100432 single base substitution G A intron_variant ESAD-UK 2 100101762 100101762 single base substitution C A intron_variant ESAD-UK 2 100102970 100102970 single base substitution G A intron_variant ESAD-UK 2 100109706 100109706 single base substitution G T upstream_gene_variant ESAD-UK 2 100109862 100109862 single base substitution G A upstream_gene_variant ESAD-UK 2 100110303 100110303 single base substitution C T upstream_gene_variant ESAD-UK 2 100110867 100110867 single base substitution C T upstream_gene_variant ESAD-UK 2 100111374 100111374 single base substitution C T upstream_gene_variant ESCA-CN 2 100013304 100013304 single base substitution G A downstream_gene_variant ESCA-CN 2 100017905 100017905 single base substitution G A downstream_gene_variant ESCA-CN 2 100017905 100017905 single base substitution G A intron_variant ESCA-CN 2 100022806 100022806 single base substitution G A 3_prime_UTR_variant ESCA-CN 2 100022806 100022806 single base substitution G A exon_variant ESCA-CN 2 100022806 100022806 single base substitution G A intron_variant ESCA-CN 2 100022806 100022806 single base substitution G A synonymous_variant T864T 2592C>T ESCA-CN 2 100022806 100022806 single base substitution G A synonymous_variant T865T 2595C>T ESCA-CN 2 100022806 100022806 single base substitution G A upstream_gene_variant ESCA-CN 2 100055238 100055238 single base substitution G A 3_prime_UTR_variant ESCA-CN 2 100055238 100055238 single base substitution G A exon_variant ESCA-CN 2 100055238 100055238 single base substitution G A synonymous_variant C346C 1038C>T ESCA-CN 2 100055238 100055238 single base substitution G A upstream_gene_variant ESCA-CN 2 100055506 100055506 single base substitution A G 3_prime_UTR_variant ESCA-CN 2 100055506 100055506 single base substitution A G exon_variant ESCA-CN 2 100055506 100055506 single base substitution A G missense_variant F257S 770T>C ESCA-CN 2 100055506 100055506 single base substitution A G upstream_gene_variant ESCA-CN 2 100078989 100078989 single base substitution A G exon_variant ESCA-CN 2 100078989 100078989 single base substitution A G synonymous_variant S50S 150T>C KIRC-US 2 100019183 100019183 single base substitution T G 3_prime_UTR_variant KIRC-US 2 100019183 100019183 single base substitution T G downstream_gene_variant KIRC-US 2 100019183 100019183 single base substitution T G exon_variant KIRC-US 2 100019183 100019183 single base substitution T G intron_variant KIRC-US 2 100019183 100019183 single base substitution T G synonymous_variant P1154P 3462A>C KIRC-US 2 100019183 100019183 single base substitution T G synonymous_variant P1155P 3465A>C KIRC-US 2 100055089 100055089 single base substitution C G 3_prime_UTR_variant KIRC-US 2 100055089 100055089 single base substitution C G exon_variant KIRC-US 2 100055089 100055089 single base substitution C G missense_variant R34T 101G>C KIRC-US 2 100055089 100055089 single base substitution C G missense_variant R396T 1187G>C KIRP-US 2 100015354 100015354 single base substitution A C downstream_gene_variant KIRP-US 2 100019166 100019166 single base substitution C T 3_prime_UTR_variant KIRP-US 2 100019166 100019166 single base substitution C T downstream_gene_variant KIRP-US 2 100019166 100019166 single base substitution C T exon_variant KIRP-US 2 100019166 100019166 single base substitution C T intron_variant KIRP-US 2 100019166 100019166 single base substitution C T missense_variant G1160E 3479G>A KIRP-US 2 100019166 100019166 single base substitution C T missense_variant G1161E 3482G>A KIRP-US 2 100019396 100019396 insertion of <=200bp - A 3_prime_UTR_variant KIRP-US 2 100019396 100019396 insertion of <=200bp - A downstream_gene_variant KIRP-US 2 100019396 100019396 insertion of <=200bp - A exon_variant KIRP-US 2 100019396 100019396 insertion of <=200bp - A frameshift_variant D1113V? KIRP-US 2 100019396 100019396 insertion of <=200bp - A frameshift_variant D1114V? KIRP-US 2 100019396 100019396 insertion of <=200bp - A intron_variant LAML-KR 2 100042701 100042701 single base substitution C T intron_variant LAML-KR 2 100042701 100042701 single base substitution C T upstream_gene_variant LGG-US 2 100022891 100022891 single base substitution C T 3_prime_UTR_variant LGG-US 2 100022891 100022891 single base substitution C T exon_variant LGG-US 2 100022891 100022891 single base substitution C T intron_variant LGG-US 2 100022891 100022891 single base substitution C T missense_variant R836H 2507G>A LGG-US 2 100022891 100022891 single base substitution C T missense_variant R837H 2510G>A LGG-US 2 100022891 100022891 single base substitution C T splice_region_variant LGG-US 2 100022891 100022891 single base substitution C T upstream_gene_variant LGG-US 2 100055074 100055076 deletion of <=200bp ACA - 3_prime_UTR_variant LGG-US 2 100055074 100055076 deletion of <=200bp ACA - disruptive_inframe_deletion VV38V LGG-US 2 100055074 100055076 deletion of <=200bp ACA - disruptive_inframe_deletion VV400V LGG-US 2 100055074 100055076 deletion of <=200bp ACA - exon_variant LGG-US 2 100079071 100079071 single base substitution G A exon_variant LGG-US 2 100079071 100079071 single base substitution G A missense_variant A23V 68C>T LICA-FR 2 100015246 100015246 single base substitution A G downstream_gene_variant LICA-FR 2 100024499 100024499 single base substitution T C 3_prime_UTR_variant LICA-FR 2 100024499 100024499 single base substitution T C exon_variant LICA-FR 2 100024499 100024499 single base substitution T C intron_variant LICA-FR 2 100024499 100024499 single base substitution T C missense_variant M813V 2437A>G LICA-FR 2 100024499 100024499 single base substitution T C missense_variant M814V 2440A>G LICA-FR 2 100024499 100024499 single base substitution T C upstream_gene_variant LICA-FR 2 100026316 100026317 deletion of <=200bp CC - intron_variant LICA-FR 2 100026316 100026317 deletion of <=200bp CC - upstream_gene_variant LICA-FR 2 100033375 100033380 deletion of <=200bp AAAAAA - downstream_gene_variant LICA-FR 2 100033375 100033380 deletion of <=200bp AAAAAA - intron_variant LICA-FR 2 100033375 100033380 deletion of <=200bp AAAAAA - upstream_gene_variant LICA-FR 2 100040170 100040170 single base substitution G A downstream_gene_variant LICA-FR 2 100040170 100040170 single base substitution G A intron_variant LICA-FR 2 100047870 100047870 single base substitution A G downstream_gene_variant LICA-FR 2 100047870 100047870 single base substitution A G intron_variant LICA-FR 2 100063513 100063513 single base substitution A T intron_variant LICA-FR 2 100063516 100063516 single base substitution A G intron_variant LICA-FR 2 100068884 100068884 insertion of <=200bp - A intron_variant LICA-FR 2 100068884 100068884 insertion of <=200bp - A upstream_gene_variant LICA-FR 2 100075867 100075867 single base substitution T G intron_variant LICA-FR 2 100079562 100079562 single base substitution T C intron_variant LICA-FR 2 100079562 100079562 single base substitution T C upstream_gene_variant LICA-FR 2 100088430 100088430 single base substitution T A intron_variant LICA-FR 2 100089828 100089828 insertion of <=200bp - AAA intron_variant LIHC-US 2 100019252 100019253 deletion of <=200bp AG - 3_prime_UTR_variant LIHC-US 2 100019252 100019253 deletion of <=200bp AG - downstream_gene_variant LIHC-US 2 100019252 100019253 deletion of <=200bp AG - exon_variant LIHC-US 2 100019252 100019253 deletion of <=200bp AG - frameshift_variant S1131 LIHC-US 2 100019252 100019253 deletion of <=200bp AG - frameshift_variant S1132 LIHC-US 2 100019252 100019253 deletion of <=200bp AG - intron_variant LIHC-US 2 100029414 100029414 single base substitution C T exon_variant LIHC-US 2 100029414 100029414 single base substitution C T splice_acceptor_variant LIHC-US 2 100029414 100029414 single base substitution C T upstream_gene_variant LIHC-US 2 100046405 100046405 single base substitution T C downstream_gene_variant LIHC-US 2 100046405 100046405 single base substitution T C exon_variant LIHC-US 2 100046405 100046405 single base substitution T C missense_variant I119V 355A>G LIHC-US 2 100046405 100046405 single base substitution T C missense_variant I481V 1441A>G LIHC-US 2 100046405 100046405 single base substitution T C missense_variant I482V 1444A>G LIHC-US 2 100046405 100046405 single base substitution T C splice_region_variant LIHC-US 2 100058804 100058804 single base substitution T C 3_prime_UTR_variant LIHC-US 2 100058804 100058804 single base substitution T C exon_variant LIHC-US 2 100058804 100058804 single base substitution T C missense_variant I160V 478A>G LIHC-US 2 100058804 100058804 single base substitution T C upstream_gene_variant LINC-JP 2 100020203 100020203 single base substitution T C 3_prime_UTR_variant LINC-JP 2 100020203 100020203 single base substitution T C downstream_gene_variant LINC-JP 2 100020203 100020203 single base substitution T C exon_variant LINC-JP 2 100020203 100020203 single base substitution T C intron_variant LINC-JP 2 100020203 100020203 single base substitution T C missense_variant R1040G 3118A>G LINC-JP 2 100020203 100020203 single base substitution T C missense_variant R1041G 3121A>G LINC-JP 2 100020203 100020203 single base substitution T C upstream_gene_variant LINC-JP 2 100022313 100022313 single base substitution T G downstream_gene_variant LINC-JP 2 100022313 100022313 single base substitution T G intron_variant LINC-JP 2 100022313 100022313 single base substitution T G upstream_gene_variant LINC-JP 2 100022321 100022321 single base substitution T C downstream_gene_variant LINC-JP 2 100022321 100022321 single base substitution T C intron_variant LINC-JP 2 100022321 100022321 single base substitution T C upstream_gene_variant LINC-JP 2 100023542 100023542 single base substitution C T intron_variant LINC-JP 2 100023542 100023542 single base substitution C T upstream_gene_variant LINC-JP 2 100025607 100025607 single base substitution C T intron_variant LINC-JP 2 100025607 100025607 single base substitution C T upstream_gene_variant LINC-JP 2 100029156 100029156 single base substitution G C intron_variant LINC-JP 2 100029156 100029156 single base substitution G C upstream_gene_variant LINC-JP 2 100037693 100037693 deletion of <=200bp A - downstream_gene_variant LINC-JP 2 100037693 100037693 deletion of <=200bp A - intron_variant LINC-JP 2 100046293 100046293 single base substitution T G downstream_gene_variant LINC-JP 2 100046293 100046293 single base substitution T G intron_variant LINC-JP 2 100047319 100047319 deletion of <=200bp A - downstream_gene_variant LINC-JP 2 100047319 100047319 deletion of <=200bp A - intron_variant LINC-JP 2 100050220 100050220 single base substitution T C downstream_gene_variant LINC-JP 2 100050220 100050220 single base substitution T C intron_variant LINC-JP 2 100055687 100055687 single base substitution C G 3_prime_UTR_variant LINC-JP 2 100055687 100055687 single base substitution C G exon_variant LINC-JP 2 100055687 100055687 single base substitution C G missense_variant D197H 589G>C LINC-JP 2 100055687 100055687 single base substitution C G upstream_gene_variant LINC-JP 2 100064412 100064412 single base substitution C A intron_variant LINC-JP 2 100064625 100064625 single base substitution T C intron_variant LINC-JP 2 100079836 100079836 single base substitution C T intron_variant LINC-JP 2 100079836 100079836 single base substitution C T upstream_gene_variant LINC-JP 2 100081653 100081653 insertion of <=200bp - T intron_variant LINC-JP 2 100081653 100081653 insertion of <=200bp - T upstream_gene_variant LINC-JP 2 100086505 100086505 single base substitution C T intron_variant LINC-JP 2 100098535 100098535 single base substitution T C intron_variant LINC-JP 2 100102630 100102630 single base substitution T C intron_variant LINC-JP 2 100103663 100103663 single base substitution T G intron_variant LIRI-JP 2 100012107 100012107 single base substitution C T downstream_gene_variant LIRI-JP 2 100012692 100012692 single base substitution A C downstream_gene_variant LIRI-JP 2 100015163 100015163 single base substitution T C downstream_gene_variant LIRI-JP 2 100015678 100015678 single base substitution T G downstream_gene_variant LIRI-JP 2 100017356 100017356 single base substitution A G 3_prime_UTR_variant LIRI-JP 2 100017356 100017356 single base substitution A G downstream_gene_variant LIRI-JP 2 100019028 100019028 single base substitution T C 3_prime_UTR_variant LIRI-JP 2 100019028 100019028 single base substitution T C downstream_gene_variant LIRI-JP 2 100019028 100019028 single base substitution T C exon_variant LIRI-JP 2 100019028 100019028 single base substitution T C intron_variant LIRI-JP 2 100020118 100020118 single base substitution T G downstream_gene_variant LIRI-JP 2 100020118 100020118 single base substitution T G intron_variant LIRI-JP 2 100020118 100020118 single base substitution T G upstream_gene_variant LIRI-JP 2 100021608 100021608 single base substitution C T downstream_gene_variant LIRI-JP 2 100021608 100021608 single base substitution C T intron_variant LIRI-JP 2 100021608 100021608 single base substitution C T upstream_gene_variant LIRI-JP 2 100027191 100027191 single base substitution A G 3_prime_UTR_variant LIRI-JP 2 100027191 100027191 single base substitution A G exon_variant LIRI-JP 2 100027191 100027191 single base substitution A G missense_variant F770L 2308T>C LIRI-JP 2 100027191 100027191 single base substitution A G missense_variant F771L 2311T>C LIRI-JP 2 100027191 100027191 single base substitution A G upstream_gene_variant LIRI-JP 2 100027308 100027308 single base substitution G A 3_prime_UTR_variant LIRI-JP 2 100027308 100027308 single base substitution G A exon_variant LIRI-JP 2 100027308 100027308 single base substitution G A missense_variant L731F 2191C>T LIRI-JP 2 100027308 100027308 single base substitution G A missense_variant L732F 2194C>T LIRI-JP 2 100027308 100027308 single base substitution G A upstream_gene_variant LIRI-JP 2 100028420 100028420 single base substitution G A intron_variant LIRI-JP 2 100028420 100028420 single base substitution G A upstream_gene_variant LIRI-JP 2 100029464 100029464 single base substitution T C intron_variant LIRI-JP 2 100029464 100029464 single base substitution T C upstream_gene_variant LIRI-JP 2 100034904 100034904 single base substitution G A downstream_gene_variant LIRI-JP 2 100034904 100034904 single base substitution G A intron_variant LIRI-JP 2 100037560 100037560 single base substitution A G downstream_gene_variant LIRI-JP 2 100037560 100037560 single base substitution A G intron_variant LIRI-JP 2 100038809 100038809 single base substitution A C downstream_gene_variant LIRI-JP 2 100038809 100038809 single base substitution A C intron_variant LIRI-JP 2 100039244 100039244 single base substitution G A downstream_gene_variant LIRI-JP 2 100039244 100039244 single base substitution G A intron_variant LIRI-JP 2 100043039 100043043 deletion of <=200bp TTTGG - intron_variant LIRI-JP 2 100043039 100043043 deletion of <=200bp TTTGG - upstream_gene_variant LIRI-JP 2 100043059 100043059 single base substitution C T intron_variant LIRI-JP 2 100043059 100043059 single base substitution C T upstream_gene_variant LIRI-JP 2 100043702 100043702 single base substitution A T downstream_gene_variant LIRI-JP 2 100043702 100043702 single base substitution A T intron_variant LIRI-JP 2 100043702 100043702 single base substitution A T upstream_gene_variant LIRI-JP 2 100047036 100047036 single base substitution T C downstream_gene_variant LIRI-JP 2 100047036 100047036 single base substitution T C intron_variant LIRI-JP 2 100047859 100047859 single base substitution T C downstream_gene_variant LIRI-JP 2 100047859 100047859 single base substitution T C intron_variant LIRI-JP 2 100048462 100048462 single base substitution T C downstream_gene_variant LIRI-JP 2 100048462 100048462 single base substitution T C intron_variant LIRI-JP 2 100049305 100049305 single base substitution T G downstream_gene_variant LIRI-JP 2 100049305 100049305 single base substitution T G intron_variant LIRI-JP 2 100049867 100049867 single base substitution T C downstream_gene_variant LIRI-JP 2 100049867 100049867 single base substitution T C intron_variant LIRI-JP 2 100053033 100053033 single base substitution T C downstream_gene_variant LIRI-JP 2 100053033 100053033 single base substitution T C intron_variant LIRI-JP 2 100054792 100054792 single base substitution G C downstream_gene_variant LIRI-JP 2 100054792 100054792 single base substitution G C intron_variant LIRI-JP 2 100055448 100055448 single base substitution C A 3_prime_UTR_variant LIRI-JP 2 100055448 100055448 single base substitution C A exon_variant LIRI-JP 2 100055448 100055448 single base substitution C A synonymous_variant L276L 828G>T LIRI-JP 2 100055448 100055448 single base substitution C A upstream_gene_variant LIRI-JP 2 100059087 100059087 single base substitution T C intron_variant LIRI-JP 2 100059087 100059087 single base substitution T C upstream_gene_variant LIRI-JP 2 100062287 100062287 single base substitution C A intron_variant LIRI-JP 2 100064583 100064583 insertion of <=200bp - A intron_variant LIRI-JP 2 100065147 100065147 single base substitution G A intron_variant LIRI-JP 2 100065608 100065608 single base substitution T C intron_variant LIRI-JP 2 100065964 100065964 single base substitution G T missense_variant P62T 184C>A LIRI-JP 2 100065964 100065964 single base substitution G T splice_region_variant LIRI-JP 2 100066205 100066205 single base substitution C T intron_variant LIRI-JP 2 100066699 100066699 single base substitution T C intron_variant LIRI-JP 2 100069655 100069655 single base substitution T C intron_variant LIRI-JP 2 100069655 100069655 single base substitution T C upstream_gene_variant LIRI-JP 2 100070092 100070092 single base substitution C A intron_variant LIRI-JP 2 100070092 100070092 single base substitution C A upstream_gene_variant LIRI-JP 2 100073523 100073523 single base substitution T C intron_variant LIRI-JP 2 100073946 100073946 single base substitution C A intron_variant LIRI-JP 2 100074462 100074462 single base substitution T C intron_variant LIRI-JP 2 100077195 100077195 single base substitution T C intron_variant LIRI-JP 2 100078733 100078733 single base substitution C T intron_variant LIRI-JP 2 100079089 100079089 insertion of <=200bp - A exon_variant LIRI-JP 2 100079089 100079089 insertion of <=200bp - A splice_region_variant LIRI-JP 2 100080662 100080662 single base substitution T C intron_variant LIRI-JP 2 100080662 100080662 single base substitution T C upstream_gene_variant LIRI-JP 2 100080791 100080791 single base substitution T C intron_variant LIRI-JP 2 100080791 100080791 single base substitution T C upstream_gene_variant LIRI-JP 2 100081952 100081952 single base substitution A T intron_variant LIRI-JP 2 100081952 100081952 single base substitution A T upstream_gene_variant LIRI-JP 2 100083309 100083309 single base substitution A G intron_variant LIRI-JP 2 100083309 100083309 single base substitution A G upstream_gene_variant LIRI-JP 2 100085383 100085383 single base substitution A G intron_variant LIRI-JP 2 100085973 100085973 single base substitution T C intron_variant LIRI-JP 2 100086977 100086977 single base substitution T C intron_variant LIRI-JP 2 100087233 100087233 single base substitution T C intron_variant LIRI-JP 2 100087634 100087634 single base substitution T G intron_variant LIRI-JP 2 100089223 100089223 single base substitution T C intron_variant LIRI-JP 2 100089736 100089736 single base substitution A G intron_variant LIRI-JP 2 100089996 100089996 single base substitution C A intron_variant LIRI-JP 2 100092816 100092816 single base substitution G A intron_variant LIRI-JP 2 100093553 100093554 deletion of <=200bp CA - intron_variant LIRI-JP 2 100093912 100093912 single base substitution A G intron_variant LIRI-JP 2 100098255 100098255 single base substitution T A intron_variant LIRI-JP 2 100100069 100100069 single base substitution T C intron_variant LIRI-JP 2 100100972 100100972 single base substitution T C intron_variant LIRI-JP 2 100102628 100102628 single base substitution T C intron_variant LIRI-JP 2 100104192 100104192 single base substitution C A intron_variant LIRI-JP 2 100108130 100108130 single base substitution C A upstream_gene_variant LIRI-JP 2 100110999 100110999 single base substitution C T upstream_gene_variant LIRI-JP 2 100111169 100111169 single base substitution A T upstream_gene_variant LIRI-JP 2 100111245 100111245 single base substitution T C upstream_gene_variant LUSC-KR 2 100013406 100013406 single base substitution A G downstream_gene_variant LUSC-KR 2 100014901 100014901 single base substitution C G downstream_gene_variant LUSC-KR 2 100016055 100016055 single base substitution G C downstream_gene_variant LUSC-KR 2 100017074 100017074 single base substitution A C 3_prime_UTR_variant LUSC-KR 2 100017074 100017074 single base substitution A C downstream_gene_variant LUSC-KR 2 100017792 100017792 single base substitution G A 3_prime_UTR_variant LUSC-KR 2 100017792 100017792 single base substitution G A downstream_gene_variant LUSC-KR 2 100017792 100017792 single base substitution G A missense_variant S1222L 3665C>T LUSC-KR 2 100017792 100017792 single base substitution G A missense_variant S1223L 3668C>T LUSC-KR 2 100022270 100022270 single base substitution G A downstream_gene_variant LUSC-KR 2 100022270 100022270 single base substitution G A intron_variant LUSC-KR 2 100022270 100022270 single base substitution G A upstream_gene_variant LUSC-KR 2 100026497 100026497 single base substitution G A intron_variant LUSC-KR 2 100026497 100026497 single base substitution G A upstream_gene_variant LUSC-KR 2 100036988 100036988 single base substitution C T downstream_gene_variant LUSC-KR 2 100036988 100036988 single base substitution C T intron_variant LUSC-KR 2 100044032 100044032 single base substitution C A downstream_gene_variant LUSC-KR 2 100044032 100044032 single base substitution C A intron_variant LUSC-KR 2 100044032 100044032 single base substitution C A upstream_gene_variant LUSC-KR 2 100048568 100048568 single base substitution G T downstream_gene_variant LUSC-KR 2 100048568 100048568 single base substitution G T intron_variant LUSC-KR 2 100050860 100050860 single base substitution G A 3_prime_UTR_variant LUSC-KR 2 100050860 100050860 single base substitution G A downstream_gene_variant LUSC-KR 2 100050860 100050860 single base substitution G A exon_variant LUSC-KR 2 100050860 100050860 single base substitution G A missense_variant R458C 1372C>T LUSC-KR 2 100050860 100050860 single base substitution G A missense_variant R96C 286C>T LUSC-KR 2 100055351 100055351 single base substitution T C 3_prime_UTR_variant LUSC-KR 2 100055351 100055351 single base substitution T C exon_variant LUSC-KR 2 100055351 100055351 single base substitution T C missense_variant I309V 925A>G LUSC-KR 2 100055351 100055351 single base substitution T C upstream_gene_variant LUSC-KR 2 100060198 100060198 single base substitution C A intron_variant LUSC-KR 2 100060198 100060198 single base substitution C A upstream_gene_variant LUSC-KR 2 100065309 100065309 single base substitution C T intron_variant LUSC-KR 2 100068899 100068899 single base substitution G A intron_variant LUSC-KR 2 100068899 100068899 single base substitution G A upstream_gene_variant LUSC-KR 2 100078587 100078587 single base substitution T A intron_variant LUSC-KR 2 100082407 100082407 single base substitution T C intron_variant LUSC-KR 2 100082407 100082407 single base substitution T C upstream_gene_variant LUSC-KR 2 100082539 100082539 single base substitution G A intron_variant LUSC-KR 2 100082539 100082539 single base substitution G A upstream_gene_variant LUSC-KR 2 100083849 100083849 single base substitution C T intron_variant LUSC-KR 2 100083849 100083849 single base substitution C T upstream_gene_variant LUSC-KR 2 100086037 100086037 single base substitution G C intron_variant LUSC-KR 2 100092196 100092196 single base substitution C G intron_variant LUSC-KR 2 100101229 100101229 single base substitution G A intron_variant LUSC-KR 2 100102530 100102530 single base substitution T A intron_variant LUSC-US 2 100019492 100019492 single base substitution A G 3_prime_UTR_variant LUSC-US 2 100019492 100019492 single base substitution A G downstream_gene_variant LUSC-US 2 100019492 100019492 single base substitution A G exon_variant LUSC-US 2 100019492 100019492 single base substitution A G intron_variant LUSC-US 2 100019492 100019492 single base substitution A G missense_variant S1081P 3241T>C LUSC-US 2 100019492 100019492 single base substitution A G missense_variant S1082P 3244T>C LUSC-US 2 100029392 100029392 single base substitution G A 3_prime_UTR_variant LUSC-US 2 100029392 100029392 single base substitution G A exon_variant LUSC-US 2 100029392 100029392 single base substitution G A missense_variant S657F 1970C>T LUSC-US 2 100029392 100029392 single base substitution G A missense_variant S658F 1973C>T LUSC-US 2 100029392 100029392 single base substitution G A upstream_gene_variant LUSC-US 2 100055628 100055628 single base substitution C T 3_prime_UTR_variant LUSC-US 2 100055628 100055628 single base substitution C T exon_variant LUSC-US 2 100055628 100055628 single base substitution C T synonymous_variant P216P 648G>A LUSC-US 2 100055628 100055628 single base substitution C T upstream_gene_variant LUSC-US 2 100055666 100055666 single base substitution C T 3_prime_UTR_variant LUSC-US 2 100055666 100055666 single base substitution C T exon_variant LUSC-US 2 100055666 100055666 single base substitution C T missense_variant E204K 610G>A LUSC-US 2 100055666 100055666 single base substitution C T upstream_gene_variant LUSC-US 2 100065857 100065857 single base substitution A T 3_prime_UTR_variant LUSC-US 2 100065857 100065857 single base substitution A T exon_variant LUSC-US 2 100065857 100065857 single base substitution A T missense_variant N97K 291T>A LUSC-US 2 100079080 100079080 single base substitution C T exon_variant LUSC-US 2 100079080 100079080 single base substitution C T missense_variant G20E 59G>A MALY-DE 2 100012369 100012369 single base substitution C T downstream_gene_variant MALY-DE 2 100014430 100014430 single base substitution C T downstream_gene_variant MALY-DE 2 100019579 100019579 single base substitution G A downstream_gene_variant MALY-DE 2 100019579 100019579 single base substitution G A exon_variant MALY-DE 2 100019579 100019579 single base substitution G A intron_variant MALY-DE 2 100021805 100021805 single base substitution C G downstream_gene_variant MALY-DE 2 100021805 100021805 single base substitution C G intron_variant MALY-DE 2 100021805 100021805 single base substitution C G upstream_gene_variant MALY-DE 2 100025628 100025628 single base substitution A T intron_variant MALY-DE 2 100025628 100025628 single base substitution A T upstream_gene_variant MALY-DE 2 100026017 100026017 single base substitution T G intron_variant MALY-DE 2 100026017 100026017 single base substitution T G upstream_gene_variant MALY-DE 2 100033155 100033155 single base substitution G A downstream_gene_variant MALY-DE 2 100033155 100033155 single base substitution G A intron_variant MALY-DE 2 100033155 100033155 single base substitution G A upstream_gene_variant MALY-DE 2 100037706 100037706 single base substitution T A downstream_gene_variant MALY-DE 2 100037706 100037706 single base substitution T A intron_variant MALY-DE 2 100038930 100038930 single base substitution C A downstream_gene_variant MALY-DE 2 100038930 100038930 single base substitution C A intron_variant MALY-DE 2 100040958 100040958 single base substitution C T downstream_gene_variant MALY-DE 2 100040958 100040958 single base substitution C T exon_variant MALY-DE 2 100040958 100040958 single base substitution C T intron_variant MALY-DE 2 100043394 100043394 single base substitution C T downstream_gene_variant MALY-DE 2 100043394 100043394 single base substitution C T intron_variant MALY-DE 2 100043394 100043394 single base substitution C T upstream_gene_variant MALY-DE 2 100054688 100054688 single base substitution T C downstream_gene_variant MALY-DE 2 100054688 100054688 single base substitution T C intron_variant MALY-DE 2 100057651 100057651 single base substitution A T intron_variant MALY-DE 2 100057651 100057651 single base substitution A T upstream_gene_variant MALY-DE 2 100058494 100058494 single base substitution T C intron_variant MALY-DE 2 100058494 100058494 single base substitution T C upstream_gene_variant MALY-DE 2 100085722 100085722 single base substitution G C intron_variant MALY-DE 2 100087505 100087505 single base substitution G A intron_variant MALY-DE 2 100105775 100105775 single base substitution G T intron_variant MELA-AU 2 100013960 100013960 single base substitution T C downstream_gene_variant MELA-AU 2 100014129 100014129 single base substitution C T downstream_gene_variant MELA-AU 2 100015725 100015725 single base substitution G A downstream_gene_variant MELA-AU 2 100017508 100017508 single base substitution A G 3_prime_UTR_variant MELA-AU 2 100017508 100017508 single base substitution A G downstream_gene_variant MELA-AU 2 100017842 100017842 single base substitution A G downstream_gene_variant MELA-AU 2 100017842 100017842 single base substitution A G intron_variant MELA-AU 2 100018600 100018600 single base substitution T C downstream_gene_variant MELA-AU 2 100018600 100018600 single base substitution T C intron_variant MELA-AU 2 100020846 100020846 single base substitution A C downstream_gene_variant MELA-AU 2 100020846 100020846 single base substitution A C intron_variant MELA-AU 2 100020846 100020846 single base substitution A C upstream_gene_variant MELA-AU 2 100021205 100021205 single base substitution T C downstream_gene_variant MELA-AU 2 100021205 100021205 single base substitution T C intron_variant MELA-AU 2 100021205 100021205 single base substitution T C upstream_gene_variant MELA-AU 2 100021910 100021911 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 2 100021910 100021911 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 100021910 100021911 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 2 100022280 100022280 single base substitution A G downstream_gene_variant MELA-AU 2 100022280 100022280 single base substitution A G intron_variant MELA-AU 2 100022280 100022280 single base substitution A G upstream_gene_variant MELA-AU 2 100024046 100024046 single base substitution T G intron_variant MELA-AU 2 100024046 100024046 single base substitution T G upstream_gene_variant MELA-AU 2 100024570 100024570 single base substitution G C 3_prime_UTR_variant MELA-AU 2 100024570 100024570 single base substitution G C exon_variant MELA-AU 2 100024570 100024570 single base substitution G C intron_variant MELA-AU 2 100024570 100024570 single base substitution G C missense_variant T789R 2366C>G MELA-AU 2 100024570 100024570 single base substitution G C missense_variant T790R 2369C>G MELA-AU 2 100024570 100024570 single base substitution G C upstream_gene_variant MELA-AU 2 100027339 100027339 single base substitution G A intron_variant MELA-AU 2 100027339 100027339 single base substitution G A upstream_gene_variant MELA-AU 2 100027647 100027647 single base substitution G A intron_variant MELA-AU 2 100027647 100027647 single base substitution G A upstream_gene_variant MELA-AU 2 100029164 100029164 single base substitution G A intron_variant MELA-AU 2 100029164 100029164 single base substitution G A upstream_gene_variant MELA-AU 2 100029254 100029254 single base substitution C T 3_prime_UTR_variant MELA-AU 2 100029254 100029254 single base substitution C T exon_variant MELA-AU 2 100029254 100029254 single base substitution C T missense_variant R703Q 2108G>A MELA-AU 2 100029254 100029254 single base substitution C T missense_variant R704Q 2111G>A MELA-AU 2 100029254 100029254 single base substitution C T upstream_gene_variant MELA-AU 2 100029834 100029834 single base substitution G A intron_variant MELA-AU 2 100029834 100029834 single base substitution G A upstream_gene_variant MELA-AU 2 100031943 100031943 single base substitution A G downstream_gene_variant MELA-AU 2 100031943 100031943 single base substitution A G intron_variant MELA-AU 2 100031943 100031943 single base substitution A G upstream_gene_variant MELA-AU 2 100031951 100031951 single base substitution G A downstream_gene_variant MELA-AU 2 100031951 100031951 single base substitution G A intron_variant MELA-AU 2 100031951 100031951 single base substitution G A upstream_gene_variant MELA-AU 2 100032319 100032319 single base substitution G A downstream_gene_variant MELA-AU 2 100032319 100032319 single base substitution G A intron_variant MELA-AU 2 100032319 100032319 single base substitution G A upstream_gene_variant MELA-AU 2 100032391 100032391 single base substitution T C downstream_gene_variant MELA-AU 2 100032391 100032391 single base substitution T C intron_variant MELA-AU 2 100032391 100032391 single base substitution T C upstream_gene_variant MELA-AU 2 100032954 100032954 single base substitution T A downstream_gene_variant MELA-AU 2 100032954 100032954 single base substitution T A intron_variant MELA-AU 2 100032954 100032954 single base substitution T A upstream_gene_variant MELA-AU 2 100033191 100033191 single base substitution G A downstream_gene_variant MELA-AU 2 100033191 100033191 single base substitution G A intron_variant MELA-AU 2 100033191 100033191 single base substitution G A upstream_gene_variant MELA-AU 2 100033790 100033790 single base substitution G A downstream_gene_variant MELA-AU 2 100033790 100033790 single base substitution G A intron_variant MELA-AU 2 100033790 100033790 single base substitution G A upstream_gene_variant MELA-AU 2 100033928 100033928 single base substitution C G downstream_gene_variant MELA-AU 2 100033928 100033928 single base substitution C G intron_variant MELA-AU 2 100033928 100033928 single base substitution C G upstream_gene_variant MELA-AU 2 100034918 100034918 single base substitution G A downstream_gene_variant MELA-AU 2 100034918 100034918 single base substitution G A intron_variant MELA-AU 2 100035692 100035692 single base substitution G A intron_variant MELA-AU 2 100035809 100035809 single base substitution G A intron_variant MELA-AU 2 100035815 100035815 single base substitution C A intron_variant MELA-AU 2 100036357 100036357 single base substitution A G downstream_gene_variant MELA-AU 2 100036357 100036357 single base substitution A G intron_variant MELA-AU 2 100036444 100036444 single base substitution G A downstream_gene_variant MELA-AU 2 100036444 100036444 single base substitution G A intron_variant MELA-AU 2 100036736 100036736 single base substitution G A downstream_gene_variant MELA-AU 2 100036736 100036736 single base substitution G A intron_variant MELA-AU 2 100037533 100037533 single base substitution G A downstream_gene_variant MELA-AU 2 100037533 100037533 single base substitution G A intron_variant MELA-AU 2 100038044 100038044 single base substitution G A 3_prime_UTR_variant MELA-AU 2 100038044 100038044 single base substitution G A downstream_gene_variant MELA-AU 2 100038044 100038044 single base substitution G A exon_variant MELA-AU 2 100038044 100038044 single base substitution G A missense_variant T582I 1745C>T MELA-AU 2 100038044 100038044 single base substitution G A missense_variant T583I 1748C>T MELA-AU 2 100039586 100039586 single base substitution G A downstream_gene_variant MELA-AU 2 100039586 100039586 single base substitution G A intron_variant MELA-AU 2 100039759 100039760 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 2 100039759 100039760 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 100040833 100040833 single base substitution A G downstream_gene_variant MELA-AU 2 100040833 100040833 single base substitution A G exon_variant MELA-AU 2 100040833 100040833 single base substitution A G intron_variant MELA-AU 2 100041113 100041113 single base substitution C T downstream_gene_variant MELA-AU 2 100041113 100041113 single base substitution C T intron_variant MELA-AU 2 100041113 100041113 single base substitution C T upstream_gene_variant MELA-AU 2 100041896 100041896 single base substitution G A intron_variant MELA-AU 2 100041896 100041896 single base substitution G A upstream_gene_variant MELA-AU 2 100041897 100041897 single base substitution G A intron_variant MELA-AU 2 100041897 100041897 single base substitution G A upstream_gene_variant MELA-AU 2 100042528 100042528 single base substitution C T intron_variant MELA-AU 2 100042528 100042528 single base substitution C T upstream_gene_variant MELA-AU 2 100042703 100042703 single base substitution G A intron_variant MELA-AU 2 100042703 100042703 single base substitution G A upstream_gene_variant MELA-AU 2 100042908 100042908 single base substitution C T intron_variant MELA-AU 2 100042908 100042908 single base substitution C T upstream_gene_variant MELA-AU 2 100043646 100043646 single base substitution G A downstream_gene_variant MELA-AU 2 100043646 100043646 single base substitution G A intron_variant MELA-AU 2 100043646 100043646 single base substitution G A upstream_gene_variant MELA-AU 2 100043778 100043778 single base substitution G A downstream_gene_variant MELA-AU 2 100043778 100043778 single base substitution G A intron_variant MELA-AU 2 100043778 100043778 single base substitution G A upstream_gene_variant MELA-AU 2 100044566 100044566 single base substitution G A downstream_gene_variant MELA-AU 2 100044566 100044566 single base substitution G A intron_variant MELA-AU 2 100044566 100044566 single base substitution G A upstream_gene_variant MELA-AU 2 100044942 100044942 single base substitution G A downstream_gene_variant MELA-AU 2 100044942 100044942 single base substitution G A intron_variant MELA-AU 2 100044942 100044942 single base substitution G A upstream_gene_variant MELA-AU 2 100045369 100045369 single base substitution G A downstream_gene_variant MELA-AU 2 100045369 100045369 single base substitution G A intron_variant MELA-AU 2 100045369 100045369 single base substitution G A upstream_gene_variant MELA-AU 2 100045856 100045856 single base substitution T C downstream_gene_variant MELA-AU 2 100045856 100045856 single base substitution T C intron_variant MELA-AU 2 100045856 100045856 single base substitution T C upstream_gene_variant MELA-AU 2 100046425 100046425 single base substitution A G downstream_gene_variant MELA-AU 2 100046425 100046425 single base substitution A G intron_variant MELA-AU 2 100046474 100046474 single base substitution G A downstream_gene_variant MELA-AU 2 100046474 100046474 single base substitution G A intron_variant MELA-AU 2 100047182 100047182 single base substitution G A downstream_gene_variant MELA-AU 2 100047182 100047182 single base substitution G A intron_variant MELA-AU 2 100048000 100048001 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 2 100048000 100048001 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 100048478 100048478 single base substitution C T downstream_gene_variant MELA-AU 2 100048478 100048478 single base substitution C T intron_variant MELA-AU 2 100048549 100048549 single base substitution G A downstream_gene_variant MELA-AU 2 100048549 100048549 single base substitution G A intron_variant MELA-AU 2 100050030 100050030 single base substitution G A downstream_gene_variant MELA-AU 2 100050030 100050030 single base substitution G A intron_variant MELA-AU 2 100050314 100050314 single base substitution A T downstream_gene_variant MELA-AU 2 100050314 100050314 single base substitution A T intron_variant MELA-AU 2 100050759 100050760 multiple base substitution (>=2bp and <=200bp) GG CA downstream_gene_variant MELA-AU 2 100050759 100050760 multiple base substitution (>=2bp and <=200bp) GG CA intron_variant MELA-AU 2 100050846 100050846 single base substitution G A 3_prime_UTR_variant MELA-AU 2 100050846 100050846 single base substitution G A downstream_gene_variant MELA-AU 2 100050846 100050846 single base substitution G A exon_variant MELA-AU 2 100050846 100050846 single base substitution G A synonymous_variant N100N 300C>T MELA-AU 2 100050846 100050846 single base substitution G A synonymous_variant N462N 1386C>T MELA-AU 2 100050918 100050918 single base substitution G A downstream_gene_variant MELA-AU 2 100050918 100050918 single base substitution G A splice_region_variant MELA-AU 2 100051135 100051135 single base substitution G A downstream_gene_variant MELA-AU 2 100051135 100051135 single base substitution G A intron_variant MELA-AU 2 100053791 100053791 single base substitution G A downstream_gene_variant MELA-AU 2 100053791 100053791 single base substitution G A intron_variant MELA-AU 2 100053911 100053911 single base substitution A G downstream_gene_variant MELA-AU 2 100053911 100053911 single base substitution A G intron_variant MELA-AU 2 100055050 100055050 deletion of <=200bp A - exon_variant MELA-AU 2 100055050 100055050 deletion of <=200bp A - intron_variant MELA-AU 2 100055100 100055100 single base substitution C T 3_prime_UTR_variant MELA-AU 2 100055100 100055100 single base substitution C T exon_variant MELA-AU 2 100055100 100055100 single base substitution C T missense_variant M30I 90G>A MELA-AU 2 100055100 100055100 single base substitution C T missense_variant M392I 1176G>A MELA-AU 2 100055512 100055512 single base substitution G A 3_prime_UTR_variant MELA-AU 2 100055512 100055512 single base substitution G A exon_variant MELA-AU 2 100055512 100055512 single base substitution G A missense_variant P255L 764C>T MELA-AU 2 100055512 100055512 single base substitution G A upstream_gene_variant MELA-AU 2 100056113 100056113 single base substitution G A intron_variant MELA-AU 2 100056113 100056113 single base substitution G A upstream_gene_variant MELA-AU 2 100056127 100056127 single base substitution A C intron_variant MELA-AU 2 100056127 100056127 single base substitution A C upstream_gene_variant MELA-AU 2 100056183 100056183 single base substitution C A intron_variant MELA-AU 2 100056183 100056183 single base substitution C A upstream_gene_variant MELA-AU 2 100056373 100056373 single base substitution G A intron_variant MELA-AU 2 100056373 100056373 single base substitution G A upstream_gene_variant MELA-AU 2 100057537 100057537 single base substitution C A intron_variant MELA-AU 2 100057537 100057537 single base substitution C A upstream_gene_variant MELA-AU 2 100057906 100057906 single base substitution G A intron_variant MELA-AU 2 100057906 100057906 single base substitution G A upstream_gene_variant MELA-AU 2 100058297 100058297 single base substitution T A intron_variant MELA-AU 2 100058297 100058297 single base substitution T A upstream_gene_variant MELA-AU 2 100058299 100058299 single base substitution A T intron_variant MELA-AU 2 100058299 100058299 single base substitution A T upstream_gene_variant MELA-AU 2 100058874 100058874 single base substitution G A 3_prime_UTR_variant MELA-AU 2 100058874 100058874 single base substitution G A exon_variant MELA-AU 2 100058874 100058874 single base substitution G A synonymous_variant S136S 408C>T MELA-AU 2 100058874 100058874 single base substitution G A upstream_gene_variant MELA-AU 2 100061339 100061339 single base substitution C T intron_variant MELA-AU 2 100061372 100061372 single base substitution G A intron_variant MELA-AU 2 100062566 100062566 single base substitution G A intron_variant MELA-AU 2 100062624 100062624 single base substitution A G intron_variant MELA-AU 2 100063221 100063221 single base substitution G A intron_variant MELA-AU 2 100063382 100063382 single base substitution T A intron_variant MELA-AU 2 100063539 100063539 single base substitution T G intron_variant MELA-AU 2 100063590 100063590 single base substitution A G intron_variant MELA-AU 2 100063600 100063600 single base substitution A T intron_variant MELA-AU 2 100063978 100063978 single base substitution G A intron_variant MELA-AU 2 100064370 100064370 single base substitution G A intron_variant MELA-AU 2 100064428 100064428 single base substitution G A intron_variant MELA-AU 2 100064493 100064493 single base substitution G A intron_variant MELA-AU 2 100064525 100064525 single base substitution A G intron_variant MELA-AU 2 100065516 100065516 single base substitution G A intron_variant MELA-AU 2 100065960 100065960 single base substitution G A 3_prime_UTR_variant MELA-AU 2 100065960 100065960 single base substitution G A exon_variant MELA-AU 2 100065960 100065960 single base substitution G A missense_variant S63F 188C>T MELA-AU 2 100066356 100066356 single base substitution A C intron_variant MELA-AU 2 100066661 100066661 single base substitution A C intron_variant MELA-AU 2 100066846 100066846 single base substitution G A intron_variant MELA-AU 2 100067411 100067411 single base substitution G A intron_variant MELA-AU 2 100068114 100068114 single base substitution G A intron_variant MELA-AU 2 100068114 100068114 single base substitution G A upstream_gene_variant MELA-AU 2 100068731 100068731 single base substitution G A intron_variant MELA-AU 2 100068731 100068731 single base substitution G A upstream_gene_variant MELA-AU 2 100068918 100068918 single base substitution G A intron_variant MELA-AU 2 100068918 100068918 single base substitution G A upstream_gene_variant MELA-AU 2 100069146 100069146 single base substitution C G intron_variant MELA-AU 2 100069146 100069146 single base substitution C G upstream_gene_variant MELA-AU 2 100069346 100069346 single base substitution G A intron_variant MELA-AU 2 100069346 100069346 single base substitution G A upstream_gene_variant MELA-AU 2 100069466 100069466 single base substitution G A intron_variant MELA-AU 2 100069466 100069466 single base substitution G A upstream_gene_variant MELA-AU 2 100071377 100071377 single base substitution C T intron_variant MELA-AU 2 100071377 100071377 single base substitution C T upstream_gene_variant MELA-AU 2 100072598 100072598 single base substitution G A intron_variant MELA-AU 2 100072598 100072598 single base substitution G A upstream_gene_variant MELA-AU 2 100073285 100073285 single base substitution A C intron_variant MELA-AU 2 100074682 100074682 single base substitution A T intron_variant MELA-AU 2 100074924 100074924 single base substitution A C intron_variant MELA-AU 2 100076342 100076342 single base substitution G A intron_variant MELA-AU 2 100076348 100076348 single base substitution G A intron_variant MELA-AU 2 100076513 100076513 single base substitution G A intron_variant MELA-AU 2 100077193 100077193 single base substitution T C intron_variant MELA-AU 2 100077362 100077362 single base substitution G A intron_variant MELA-AU 2 100078114 100078114 single base substitution A G intron_variant MELA-AU 2 100078730 100078730 deletion of <=200bp A - intron_variant MELA-AU 2 100079102 100079102 single base substitution G A exon_variant MELA-AU 2 100079102 100079102 single base substitution G A intron_variant MELA-AU 2 100079155 100079155 single base substitution T A exon_variant MELA-AU 2 100079155 100079155 single base substitution T A intron_variant MELA-AU 2 100079926 100079926 single base substitution G A intron_variant MELA-AU 2 100079926 100079926 single base substitution G A upstream_gene_variant MELA-AU 2 100080150 100080150 single base substitution G A intron_variant MELA-AU 2 100080150 100080150 single base substitution G A upstream_gene_variant MELA-AU 2 100080300 100080300 single base substitution G A intron_variant MELA-AU 2 100080300 100080300 single base substitution G A upstream_gene_variant MELA-AU 2 100080368 100080368 single base substitution G A intron_variant MELA-AU 2 100080368 100080368 single base substitution G A upstream_gene_variant MELA-AU 2 100080599 100080599 single base substitution A T intron_variant MELA-AU 2 100080599 100080599 single base substitution A T upstream_gene_variant MELA-AU 2 100080916 100080916 single base substitution C T intron_variant MELA-AU 2 100080916 100080916 single base substitution C T upstream_gene_variant MELA-AU 2 100081217 100081217 single base substitution G T intron_variant MELA-AU 2 100081217 100081217 single base substitution G T upstream_gene_variant MELA-AU 2 100082223 100082223 single base substitution G A intron_variant MELA-AU 2 100082223 100082223 single base substitution G A upstream_gene_variant MELA-AU 2 100082774 100082774 single base substitution G A intron_variant MELA-AU 2 100082774 100082774 single base substitution G A upstream_gene_variant MELA-AU 2 100083220 100083220 single base substitution A C intron_variant MELA-AU 2 100083220 100083220 single base substitution A C upstream_gene_variant MELA-AU 2 100083236 100083236 single base substitution G A intron_variant MELA-AU 2 100083236 100083236 single base substitution G A upstream_gene_variant MELA-AU 2 100083388 100083388 deletion of <=200bp T - intron_variant MELA-AU 2 100083388 100083388 deletion of <=200bp T - upstream_gene_variant MELA-AU 2 100083394 100083394 single base substitution G A intron_variant MELA-AU 2 100083394 100083394 single base substitution G A upstream_gene_variant MELA-AU 2 100083953 100083953 single base substitution G A intron_variant MELA-AU 2 100083953 100083953 single base substitution G A upstream_gene_variant MELA-AU 2 100084461 100084461 single base substitution G A intron_variant MELA-AU 2 100085682 100085682 single base substitution C T intron_variant MELA-AU 2 100086400 100086400 single base substitution G T intron_variant MELA-AU 2 100086856 100086856 single base substitution C T intron_variant MELA-AU 2 100086995 100086995 single base substitution T C intron_variant MELA-AU 2 100087298 100087298 single base substitution G A intron_variant MELA-AU 2 100087788 100087789 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 100089019 100089019 single base substitution A T intron_variant MELA-AU 2 100089249 100089249 single base substitution T C intron_variant MELA-AU 2 100089458 100089458 single base substitution A T intron_variant MELA-AU 2 100089539 100089539 single base substitution A T intron_variant MELA-AU 2 100089619 100089620 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 100090427 100090427 single base substitution G A intron_variant MELA-AU 2 100091683 100091683 single base substitution G T intron_variant MELA-AU 2 100092098 100092098 single base substitution G A intron_variant MELA-AU 2 100092461 100092461 single base substitution G A intron_variant MELA-AU 2 100092905 100092905 single base substitution C T intron_variant MELA-AU 2 100093157 100093157 single base substitution G A intron_variant MELA-AU 2 100093261 100093261 single base substitution C T intron_variant MELA-AU 2 100093915 100093915 single base substitution G A intron_variant MELA-AU 2 100093945 100093945 single base substitution G A intron_variant MELA-AU 2 100094650 100094650 single base substitution G A intron_variant MELA-AU 2 100094960 100094960 single base substitution G A intron_variant MELA-AU 2 100095492 100095492 single base substitution A C intron_variant MELA-AU 2 100095557 100095557 single base substitution C T intron_variant MELA-AU 2 100095686 100095686 single base substitution G A intron_variant MELA-AU 2 100096547 100096547 single base substitution A T intron_variant MELA-AU 2 100098345 100098345 single base substitution T G intron_variant MELA-AU 2 100098898 100098898 single base substitution G A intron_variant MELA-AU 2 100101078 100101078 single base substitution A T intron_variant MELA-AU 2 100102325 100102325 single base substitution C T intron_variant MELA-AU 2 100103158 100103158 single base substitution G A intron_variant MELA-AU 2 100103461 100103461 single base substitution G A intron_variant MELA-AU 2 100104857 100104857 single base substitution G A intron_variant MELA-AU 2 100106999 100106999 single base substitution C T upstream_gene_variant MELA-AU 2 100107065 100107065 single base substitution C T upstream_gene_variant MELA-AU 2 100107178 100107178 single base substitution T C upstream_gene_variant MELA-AU 2 100107212 100107212 single base substitution G A upstream_gene_variant MELA-AU 2 100108390 100108390 single base substitution G A upstream_gene_variant MELA-AU 2 100108782 100108782 single base substitution G A upstream_gene_variant MELA-AU 2 100108834 100108834 single base substitution G A upstream_gene_variant MELA-AU 2 100108904 100108904 single base substitution C T upstream_gene_variant MELA-AU 2 100108909 100108909 single base substitution C T upstream_gene_variant MELA-AU 2 100109151 100109151 single base substitution G A upstream_gene_variant MELA-AU 2 100109242 100109242 single base substitution G A upstream_gene_variant MELA-AU 2 100109428 100109428 single base substitution C T upstream_gene_variant MELA-AU 2 100109595 100109595 single base substitution C T upstream_gene_variant MELA-AU 2 100110148 100110148 single base substitution G A upstream_gene_variant MELA-AU 2 100110180 100110180 single base substitution G A upstream_gene_variant MELA-AU 2 100110420 100110420 single base substitution C T upstream_gene_variant MELA-AU 2 100110456 100110456 single base substitution G A upstream_gene_variant MELA-AU 2 100110769 100110769 single base substitution G A upstream_gene_variant MELA-AU 2 100110780 100110780 single base substitution G A upstream_gene_variant MELA-AU 2 100111211 100111211 single base substitution A G upstream_gene_variant MELA-AU 2 100111479 100111479 single base substitution G A upstream_gene_variant MELA-AU 2 100111490 100111490 single base substitution G A upstream_gene_variant ORCA-IN 2 100030722 100030722 single base substitution G A downstream_gene_variant ORCA-IN 2 100030722 100030722 single base substitution G A intron_variant ORCA-IN 2 100030722 100030722 single base substitution G A upstream_gene_variant ORCA-IN 2 100037981 100037981 single base substitution C A 3_prime_UTR_variant ORCA-IN 2 100037981 100037981 single base substitution C A downstream_gene_variant ORCA-IN 2 100037981 100037981 single base substitution C A exon_variant ORCA-IN 2 100037981 100037981 single base substitution C A missense_variant C603F 1808G>T ORCA-IN 2 100037981 100037981 single base substitution C A missense_variant C604F 1811G>T ORCA-IN 2 100091805 100091805 single base substitution T G intron_variant ORCA-IN 2 100107734 100107734 single base substitution G A upstream_gene_variant OV-AU 2 100013639 100013639 single base substitution C A downstream_gene_variant OV-AU 2 100015241 100015241 single base substitution G C downstream_gene_variant OV-AU 2 100020906 100020906 single base substitution C T downstream_gene_variant OV-AU 2 100020906 100020906 single base substitution C T intron_variant OV-AU 2 100020906 100020906 single base substitution C T splice_donor_variant OV-AU 2 100020906 100020906 single base substitution C T upstream_gene_variant OV-AU 2 100027286 100027286 single base substitution A G 3_prime_UTR_variant OV-AU 2 100027286 100027286 single base substitution A G exon_variant OV-AU 2 100027286 100027286 single base substitution A G missense_variant I738T 2213T>C OV-AU 2 100027286 100027286 single base substitution A G missense_variant I739T 2216T>C OV-AU 2 100027286 100027286 single base substitution A G upstream_gene_variant OV-AU 2 100028549 100028549 single base substitution G A intron_variant OV-AU 2 100028549 100028549 single base substitution G A upstream_gene_variant OV-AU 2 100031082 100031082 single base substitution T C downstream_gene_variant OV-AU 2 100031082 100031082 single base substitution T C intron_variant OV-AU 2 100031082 100031082 single base substitution T C upstream_gene_variant OV-AU 2 100033792 100033792 single base substitution G C downstream_gene_variant OV-AU 2 100033792 100033792 single base substitution G C intron_variant OV-AU 2 100033792 100033792 single base substitution G C upstream_gene_variant OV-AU 2 100034681 100034681 single base substitution G A downstream_gene_variant OV-AU 2 100034681 100034681 single base substitution G A intron_variant OV-AU 2 100041289 100041289 single base substitution G C intron_variant OV-AU 2 100041289 100041289 single base substitution G C synonymous_variant L177L 531C>G OV-AU 2 100041289 100041289 single base substitution G C upstream_gene_variant OV-AU 2 100045239 100045239 single base substitution C T downstream_gene_variant OV-AU 2 100045239 100045239 single base substitution C T intron_variant OV-AU 2 100045239 100045239 single base substitution C T upstream_gene_variant OV-AU 2 100048156 100048156 single base substitution G A downstream_gene_variant OV-AU 2 100048156 100048156 single base substitution G A intron_variant OV-AU 2 100062672 100062672 single base substitution C T intron_variant OV-AU 2 100063240 100063240 single base substitution C T intron_variant OV-AU 2 100068194 100068194 single base substitution G C intron_variant OV-AU 2 100068194 100068194 single base substitution G C upstream_gene_variant OV-AU 2 100069126 100069126 single base substitution A C intron_variant OV-AU 2 100069126 100069126 single base substitution A C upstream_gene_variant OV-AU 2 100072345 100072345 single base substitution C T intron_variant OV-AU 2 100072345 100072345 single base substitution C T upstream_gene_variant OV-AU 2 100072673 100072673 single base substitution C A intron_variant OV-AU 2 100072673 100072673 single base substitution C A upstream_gene_variant OV-AU 2 100073910 100073910 single base substitution G A intron_variant OV-AU 2 100075263 100075263 single base substitution A T intron_variant OV-AU 2 100082967 100082967 single base substitution G A intron_variant OV-AU 2 100082967 100082967 single base substitution G A upstream_gene_variant OV-AU 2 100082968 100082968 single base substitution T A intron_variant OV-AU 2 100082968 100082968 single base substitution T A upstream_gene_variant OV-AU 2 100084146 100084146 single base substitution A G intron_variant OV-AU 2 100084146 100084146 single base substitution A G upstream_gene_variant OV-AU 2 100087940 100087940 single base substitution G C intron_variant OV-AU 2 100095876 100095876 single base substitution C A intron_variant OV-AU 2 100096057 100096057 single base substitution G A intron_variant OV-AU 2 100106150 100106150 single base substitution A C intron_variant OV-AU 2 100106964 100106964 single base substitution G T upstream_gene_variant OV-AU 2 100110383 100110383 single base substitution A T upstream_gene_variant OV-AU 2 100110677 100110677 single base substitution G A upstream_gene_variant OV-US 2 100055283 100055283 single base substitution C T 3_prime_UTR_variant OV-US 2 100055283 100055283 single base substitution C T exon_variant OV-US 2 100055283 100055283 single base substitution C T synonymous_variant T331T 993G>A OV-US 2 100055283 100055283 single base substitution C T upstream_gene_variant PACA-AU 2 100012008 100012008 single base substitution G A downstream_gene_variant PACA-AU 2 100012833 100012833 single base substitution T C downstream_gene_variant PACA-AU 2 100014514 100014514 single base substitution C A downstream_gene_variant PACA-AU 2 100015222 100015222 single base substitution C T downstream_gene_variant PACA-AU 2 100023286 100023286 single base substitution A G exon_variant PACA-AU 2 100023286 100023286 single base substitution A G intron_variant PACA-AU 2 100023286 100023286 single base substitution A G upstream_gene_variant PACA-AU 2 100032226 100032226 single base substitution G T downstream_gene_variant PACA-AU 2 100032226 100032226 single base substitution G T intron_variant PACA-AU 2 100032226 100032226 single base substitution G T upstream_gene_variant PACA-AU 2 100040160 100040160 single base substitution C G downstream_gene_variant PACA-AU 2 100040160 100040160 single base substitution C G intron_variant PACA-AU 2 100042264 100042264 single base substitution C T intron_variant PACA-AU 2 100042264 100042264 single base substitution C T upstream_gene_variant PACA-AU 2 100042366 100042366 single base substitution C T intron_variant PACA-AU 2 100042366 100042366 single base substitution C T upstream_gene_variant PACA-AU 2 100055629 100055629 single base substitution G A 3_prime_UTR_variant PACA-AU 2 100055629 100055629 single base substitution G A exon_variant PACA-AU 2 100055629 100055629 single base substitution G A missense_variant P216L 647C>T PACA-AU 2 100055629 100055629 single base substitution G A upstream_gene_variant PACA-AU 2 100056497 100056497 single base substitution G A intron_variant PACA-AU 2 100056497 100056497 single base substitution G A upstream_gene_variant PACA-AU 2 100061373 100061373 single base substitution G A intron_variant PACA-AU 2 100061593 100061593 single base substitution C A intron_variant PACA-AU 2 100072687 100072687 single base substitution A G intron_variant PACA-AU 2 100072687 100072687 single base substitution A G upstream_gene_variant PACA-AU 2 100072840 100072840 deletion of <=200bp T - intron_variant PACA-AU 2 100072840 100072840 deletion of <=200bp T - upstream_gene_variant PACA-AU 2 100080699 100080699 single base substitution T C intron_variant PACA-AU 2 100080699 100080699 single base substitution T C upstream_gene_variant PACA-AU 2 100081351 100081351 single base substitution C T intron_variant PACA-AU 2 100081351 100081351 single base substitution C T upstream_gene_variant PACA-AU 2 100092079 100092079 single base substitution G A intron_variant PACA-AU 2 100096938 100096938 single base substitution G C intron_variant PACA-AU 2 100097387 100097419 deletion of <=200bp AATTTAGCACACTATAATCTCTGAGGAACAGTG - intron_variant PACA-AU 2 100097723 100097723 single base substitution G A intron_variant PACA-AU 2 100109505 100109505 single base substitution A G upstream_gene_variant PACA-AU 2 100110295 100110295 deletion of <=200bp G - upstream_gene_variant PACA-CA 2 100017840 100017840 single base substitution T A downstream_gene_variant PACA-CA 2 100017840 100017840 single base substitution T A intron_variant PACA-CA 2 100017841 100017841 single base substitution C T downstream_gene_variant PACA-CA 2 100017841 100017841 single base substitution C T intron_variant PACA-CA 2 100017961 100017961 single base substitution G T downstream_gene_variant PACA-CA 2 100017961 100017961 single base substitution G T intron_variant PACA-CA 2 100018431 100018431 single base substitution A T downstream_gene_variant PACA-CA 2 100018431 100018431 single base substitution A T intron_variant PACA-CA 2 100019063 100019063 single base substitution G A 3_prime_UTR_variant PACA-CA 2 100019063 100019063 single base substitution G A downstream_gene_variant PACA-CA 2 100019063 100019063 single base substitution G A exon_variant PACA-CA 2 100019063 100019063 single base substitution G A intron_variant PACA-CA 2 100024025 100024025 single base substitution C A intron_variant PACA-CA 2 100024025 100024025 single base substitution C A upstream_gene_variant PACA-CA 2 100026414 100026414 single base substitution A G intron_variant PACA-CA 2 100026414 100026414 single base substitution A G upstream_gene_variant PACA-CA 2 100029249 100029249 single base substitution C T 3_prime_UTR_variant PACA-CA 2 100029249 100029249 single base substitution C T exon_variant PACA-CA 2 100029249 100029249 single base substitution C T missense_variant E705K 2113G>A PACA-CA 2 100029249 100029249 single base substitution C T missense_variant E706K 2116G>A PACA-CA 2 100029249 100029249 single base substitution C T upstream_gene_variant PACA-CA 2 100029867 100029867 insertion of <=200bp - T intron_variant PACA-CA 2 100029867 100029867 insertion of <=200bp - T upstream_gene_variant PACA-CA 2 100030488 100030488 single base substitution G A downstream_gene_variant PACA-CA 2 100030488 100030488 single base substitution G A intron_variant PACA-CA 2 100030488 100030488 single base substitution G A upstream_gene_variant PACA-CA 2 100038547 100038547 single base substitution A G downstream_gene_variant PACA-CA 2 100038547 100038547 single base substitution A G intron_variant PACA-CA 2 100039095 100039095 single base substitution C T downstream_gene_variant PACA-CA 2 100039095 100039095 single base substitution C T intron_variant PACA-CA 2 100041033 100041033 single base substitution T G downstream_gene_variant PACA-CA 2 100041033 100041033 single base substitution T G exon_variant PACA-CA 2 100041033 100041033 single base substitution T G intron_variant PACA-CA 2 100050195 100050195 single base substitution T G downstream_gene_variant PACA-CA 2 100050195 100050195 single base substitution T G intron_variant PACA-CA 2 100051400 100051400 single base substitution T C downstream_gene_variant PACA-CA 2 100051400 100051400 single base substitution T C intron_variant PACA-CA 2 100055101 100055101 insertion of <=200bp - T 3_prime_UTR_variant PACA-CA 2 100055101 100055101 insertion of <=200bp - T exon_variant PACA-CA 2 100055101 100055101 insertion of <=200bp - T frameshift_variant M30I? PACA-CA 2 100055101 100055101 insertion of <=200bp - T frameshift_variant M392I? PACA-CA 2 100055351 100055351 single base substitution T A 3_prime_UTR_variant PACA-CA 2 100055351 100055351 single base substitution T A exon_variant PACA-CA 2 100055351 100055351 single base substitution T A missense_variant I309F 925A>T PACA-CA 2 100055351 100055351 single base substitution T A upstream_gene_variant PACA-CA 2 100057207 100057207 insertion of <=200bp - A intron_variant PACA-CA 2 100057207 100057207 insertion of <=200bp - A upstream_gene_variant PACA-CA 2 100062125 100062125 insertion of <=200bp - T intron_variant PACA-CA 2 100065924 100065924 single base substitution C T 3_prime_UTR_variant PACA-CA 2 100065924 100065924 single base substitution C T exon_variant PACA-CA 2 100065924 100065924 single base substitution C T missense_variant G75E 224G>A PACA-CA 2 100068272 100068272 single base substitution A G intron_variant PACA-CA 2 100068272 100068272 single base substitution A G upstream_gene_variant PACA-CA 2 100070119 100070119 single base substitution G T intron_variant PACA-CA 2 100070119 100070119 single base substitution G T upstream_gene_variant PACA-CA 2 100070162 100070162 single base substitution C T intron_variant PACA-CA 2 100070162 100070162 single base substitution C T upstream_gene_variant PACA-CA 2 100070679 100070679 single base substitution C T intron_variant PACA-CA 2 100070679 100070679 single base substitution C T upstream_gene_variant PACA-CA 2 100071467 100071467 single base substitution C G intron_variant PACA-CA 2 100071467 100071467 single base substitution C G upstream_gene_variant PACA-CA 2 100073814 100073814 single base substitution C T intron_variant PACA-CA 2 100075682 100075682 single base substitution A G intron_variant PACA-CA 2 100080401 100080401 single base substitution G T intron_variant PACA-CA 2 100080401 100080401 single base substitution G T upstream_gene_variant PACA-CA 2 100083846 100083846 single base substitution C T intron_variant PACA-CA 2 100083846 100083846 single base substitution C T upstream_gene_variant PACA-CA 2 100087043 100087043 single base substitution G A intron_variant PACA-CA 2 100089997 100089997 single base substitution G A intron_variant PACA-CA 2 100092457 100092457 single base substitution A G intron_variant PACA-CA 2 100096298 100096298 single base substitution G A intron_variant PACA-CA 2 100097678 100097678 single base substitution T G intron_variant PACA-CA 2 100098608 100098608 single base substitution G A intron_variant PACA-CA 2 100102785 100102785 single base substitution A T intron_variant PACA-CA 2 100105434 100105434 single base substitution A C intron_variant PACA-CA 2 100105796 100105796 single base substitution C T intron_variant PACA-CA 2 100108390 100108390 single base substitution G A upstream_gene_variant PACA-CA 2 100108829 100108829 single base substitution C T upstream_gene_variant PACA-CA 2 100109102 100109102 single base substitution C A upstream_gene_variant PACA-CA 2 100110147 100110147 single base substitution C T upstream_gene_variant PAEN-AU 2 100048711 100048711 single base substitution C G downstream_gene_variant PAEN-AU 2 100048711 100048711 single base substitution C G intron_variant PAEN-AU 2 100067078 100067078 single base substitution A T intron_variant PAEN-AU 2 100072023 100072023 single base substitution G C intron_variant PAEN-AU 2 100072023 100072023 single base substitution G C upstream_gene_variant PAEN-AU 2 100074862 100074862 single base substitution C G intron_variant PAEN-AU 2 100090256 100090256 single base substitution A G intron_variant PAEN-AU 2 100101072 100101072 single base substitution T C intron_variant PAEN-IT 2 100052954 100052954 single base substitution A G downstream_gene_variant PAEN-IT 2 100052954 100052954 single base substitution A G intron_variant PAEN-IT 2 100077624 100077624 single base substitution T G intron_variant PBCA-DE 2 100016372 100016372 single base substitution A C downstream_gene_variant PBCA-DE 2 100026501 100026501 single base substitution G A intron_variant PBCA-DE 2 100026501 100026501 single base substitution G A upstream_gene_variant PBCA-DE 2 100026698 100026698 single base substitution C T intron_variant PBCA-DE 2 100026698 100026698 single base substitution C T upstream_gene_variant PBCA-DE 2 100028902 100028902 single base substitution A T intron_variant PBCA-DE 2 100028902 100028902 single base substitution A T upstream_gene_variant PBCA-DE 2 100029321 100029321 single base substitution C A 3_prime_UTR_variant PBCA-DE 2 100029321 100029321 single base substitution C A exon_variant PBCA-DE 2 100029321 100029321 single base substitution C A stop_gained E681* 2041G>T PBCA-DE 2 100029321 100029321 single base substitution C A stop_gained E682* 2044G>T PBCA-DE 2 100029321 100029321 single base substitution C A upstream_gene_variant PBCA-DE 2 100031200 100031200 deletion of <=200bp C - downstream_gene_variant PBCA-DE 2 100031200 100031200 deletion of <=200bp C - intron_variant PBCA-DE 2 100031200 100031200 deletion of <=200bp C - upstream_gene_variant PBCA-DE 2 100032705 100032705 single base substitution G A downstream_gene_variant PBCA-DE 2 100032705 100032705 single base substitution G A intron_variant PBCA-DE 2 100032705 100032705 single base substitution G A upstream_gene_variant PBCA-DE 2 100047712 100047712 single base substitution A T downstream_gene_variant PBCA-DE 2 100047712 100047712 single base substitution A T intron_variant PBCA-DE 2 100051533 100051533 single base substitution G T downstream_gene_variant PBCA-DE 2 100051533 100051533 single base substitution G T intron_variant PBCA-DE 2 100062783 100062783 single base substitution A G intron_variant PBCA-DE 2 100078619 100078619 single base substitution G A intron_variant PBCA-DE 2 100083175 100083175 insertion of <=200bp - A intron_variant PBCA-DE 2 100083175 100083175 insertion of <=200bp - A upstream_gene_variant PBCA-DE 2 100094522 100094522 single base substitution C T intron_variant PBCA-DE 2 100103781 100103781 single base substitution C A intron_variant PBCA-DE 2 100111416 100111416 single base substitution C T upstream_gene_variant PRAD-CA 2 100013109 100013109 single base substitution C T downstream_gene_variant PRAD-CA 2 100017791 100017791 single base substitution C T 3_prime_UTR_variant PRAD-CA 2 100017791 100017791 single base substitution C T downstream_gene_variant PRAD-CA 2 100017791 100017791 single base substitution C T synonymous_variant S1222S 3666G>A PRAD-CA 2 100017791 100017791 single base substitution C T synonymous_variant S1223S 3669G>A PRAD-CA 2 100038919 100038919 single base substitution G A downstream_gene_variant PRAD-CA 2 100038919 100038919 single base substitution G A intron_variant PRAD-CA 2 100062919 100062919 single base substitution C T intron_variant PRAD-CA 2 100064180 100064180 single base substitution T C intron_variant PRAD-CA 2 100070030 100070030 single base substitution T C intron_variant PRAD-CA 2 100070030 100070030 single base substitution T C upstream_gene_variant PRAD-UK 2 100033539 100033539 single base substitution G C downstream_gene_variant PRAD-UK 2 100033539 100033539 single base substitution G C intron_variant PRAD-UK 2 100033539 100033539 single base substitution G C upstream_gene_variant PRAD-UK 2 100045071 100045071 single base substitution A T downstream_gene_variant PRAD-UK 2 100045071 100045071 single base substitution A T intron_variant PRAD-UK 2 100045071 100045071 single base substitution A T upstream_gene_variant PRAD-UK 2 100051498 100051498 single base substitution T C downstream_gene_variant PRAD-UK 2 100051498 100051498 single base substitution T C intron_variant PRAD-UK 2 100052075 100052075 single base substitution C T downstream_gene_variant PRAD-UK 2 100052075 100052075 single base substitution C T exon_variant PRAD-UK 2 100052075 100052075 single base substitution C T intron_variant PRAD-UK 2 100055569 100055569 single base substitution A G 3_prime_UTR_variant PRAD-UK 2 100055569 100055569 single base substitution A G exon_variant PRAD-UK 2 100055569 100055569 single base substitution A G missense_variant L236S 707T>C PRAD-UK 2 100055569 100055569 single base substitution A G upstream_gene_variant PRAD-UK 2 100089762 100089762 single base substitution A T intron_variant PRAD-UK 2 100090226 100090226 single base substitution T A intron_variant PRAD-US 2 100055101 100055101 insertion of <=200bp - T 3_prime_UTR_variant PRAD-US 2 100055101 100055101 insertion of <=200bp - T exon_variant PRAD-US 2 100055101 100055101 insertion of <=200bp - T frameshift_variant M30I? PRAD-US 2 100055101 100055101 insertion of <=200bp - T frameshift_variant M392I? PRAD-US 2 100055181 100055181 single base substitution C T 3_prime_UTR_variant PRAD-US 2 100055181 100055181 single base substitution C T exon_variant PRAD-US 2 100055181 100055181 single base substitution C T synonymous_variant K365K 1095G>A PRAD-US 2 100055181 100055181 single base substitution C T synonymous_variant K3K 9G>A PRAD-US 2 100055181 100055181 single base substitution C T upstream_gene_variant READ-US 2 100019406 100019406 single base substitution C T 3_prime_UTR_variant READ-US 2 100019406 100019406 single base substitution C T downstream_gene_variant READ-US 2 100019406 100019406 single base substitution C T exon_variant READ-US 2 100019406 100019406 single base substitution C T intron_variant READ-US 2 100019406 100019406 single base substitution C T synonymous_variant Q1109Q 3327G>A READ-US 2 100019406 100019406 single base substitution C T synonymous_variant Q1110Q 3330G>A READ-US 2 100038060 100038060 single base substitution C T 3_prime_UTR_variant READ-US 2 100038060 100038060 single base substitution C T downstream_gene_variant READ-US 2 100038060 100038060 single base substitution C T exon_variant READ-US 2 100038060 100038060 single base substitution C T missense_variant E577K 1729G>A READ-US 2 100038060 100038060 single base substitution C T missense_variant E578K 1732G>A READ-US 2 100052316 100052316 single base substitution C T 3_prime_UTR_variant READ-US 2 100052316 100052316 single base substitution C T downstream_gene_variant READ-US 2 100052316 100052316 single base substitution C T exon_variant READ-US 2 100052316 100052316 single base substitution C T missense_variant R434Q 1301G>A READ-US 2 100052316 100052316 single base substitution C T missense_variant R72Q 215G>A READ-US 2 100079038 100079038 single base substitution C T exon_variant READ-US 2 100079038 100079038 single base substitution C T missense_variant R34Q 101G>A RECA-EU 2 100054817 100054817 single base substitution G A downstream_gene_variant RECA-EU 2 100054817 100054817 single base substitution G A intron_variant RECA-EU 2 100055518 100055518 single base substitution A G 3_prime_UTR_variant RECA-EU 2 100055518 100055518 single base substitution A G exon_variant RECA-EU 2 100055518 100055518 single base substitution A G missense_variant L253P 758T>C RECA-EU 2 100055518 100055518 single base substitution A G upstream_gene_variant RECA-EU 2 100059347 100059347 single base substitution T C intron_variant RECA-EU 2 100059347 100059347 single base substitution T C upstream_gene_variant RECA-EU 2 100060667 100060667 single base substitution C T intron_variant RECA-EU 2 100064040 100064040 single base substitution A G intron_variant RECA-EU 2 100076414 100076414 single base substitution A T intron_variant RECA-EU 2 100083382 100083382 single base substitution C G intron_variant RECA-EU 2 100083382 100083382 single base substitution C G upstream_gene_variant RECA-EU 2 100084134 100084134 single base substitution A G intron_variant RECA-EU 2 100084134 100084134 single base substitution A G upstream_gene_variant RECA-EU 2 100089373 100089373 single base substitution C G intron_variant RECA-EU 2 100093530 100093530 single base substitution G T intron_variant SKCA-BR 2 100023539 100023542 deletion of <=200bp GTTC - intron_variant SKCA-BR 2 100023539 100023542 deletion of <=200bp GTTC - upstream_gene_variant SKCA-BR 2 100024547 100024547 single base substitution T C 3_prime_UTR_variant SKCA-BR 2 100024547 100024547 single base substitution T C exon_variant SKCA-BR 2 100024547 100024547 single base substitution T C intron_variant SKCA-BR 2 100024547 100024547 single base substitution T C missense_variant K797E 2389A>G SKCA-BR 2 100024547 100024547 single base substitution T C missense_variant K798E 2392A>G SKCA-BR 2 100024547 100024547 single base substitution T C upstream_gene_variant SKCA-BR 2 100024588 100024588 single base substitution A G 3_prime_UTR_variant SKCA-BR 2 100024588 100024588 single base substitution A G exon_variant SKCA-BR 2 100024588 100024588 single base substitution A G intron_variant SKCA-BR 2 100024588 100024588 single base substitution A G missense_variant V783A 2348T>C SKCA-BR 2 100024588 100024588 single base substitution A G missense_variant V784A 2351T>C SKCA-BR 2 100024588 100024588 single base substitution A G upstream_gene_variant SKCA-BR 2 100027725 100027725 single base substitution G A intron_variant SKCA-BR 2 100027725 100027725 single base substitution G A upstream_gene_variant SKCA-BR 2 100027873 100027873 insertion of <=200bp - CT intron_variant SKCA-BR 2 100027873 100027873 insertion of <=200bp - CT upstream_gene_variant SKCA-BR 2 100029106 100029106 single base substitution T C intron_variant SKCA-BR 2 100029106 100029106 single base substitution T C upstream_gene_variant SKCA-BR 2 100033061 100033061 single base substitution G A downstream_gene_variant SKCA-BR 2 100033061 100033061 single base substitution G A intron_variant SKCA-BR 2 100033061 100033061 single base substitution G A upstream_gene_variant SKCA-BR 2 100033392 100033392 single base substitution A T downstream_gene_variant SKCA-BR 2 100033392 100033392 single base substitution A T intron_variant SKCA-BR 2 100033392 100033392 single base substitution A T upstream_gene_variant SKCA-BR 2 100038470 100038470 single base substitution G A downstream_gene_variant SKCA-BR 2 100038470 100038470 single base substitution G A intron_variant SKCA-BR 2 100045595 100045595 single base substitution G A downstream_gene_variant SKCA-BR 2 100045595 100045595 single base substitution G A intron_variant SKCA-BR 2 100045595 100045595 single base substitution G A upstream_gene_variant SKCA-BR 2 100046943 100046943 single base substitution A C downstream_gene_variant SKCA-BR 2 100046943 100046943 single base substitution A C intron_variant SKCA-BR 2 100047600 100047600 single base substitution A G downstream_gene_variant SKCA-BR 2 100047600 100047600 single base substitution A G intron_variant SKCA-BR 2 100047953 100047953 single base substitution C A downstream_gene_variant SKCA-BR 2 100047953 100047953 single base substitution C A intron_variant SKCA-BR 2 100047978 100047978 single base substitution A C downstream_gene_variant SKCA-BR 2 100047978 100047978 single base substitution A C intron_variant SKCA-BR 2 100048445 100048445 single base substitution G A downstream_gene_variant SKCA-BR 2 100048445 100048445 single base substitution G A intron_variant SKCA-BR 2 100048905 100048905 single base substitution G A downstream_gene_variant SKCA-BR 2 100048905 100048905 single base substitution G A intron_variant SKCA-BR 2 100050430 100050430 single base substitution A T downstream_gene_variant SKCA-BR 2 100050430 100050430 single base substitution A T intron_variant SKCA-BR 2 100053717 100053717 single base substitution T C downstream_gene_variant SKCA-BR 2 100053717 100053717 single base substitution T C intron_variant SKCA-BR 2 100055972 100055972 single base substitution G A intron_variant SKCA-BR 2 100055972 100055972 single base substitution G A upstream_gene_variant SKCA-BR 2 100060841 100060841 single base substitution G A intron_variant SKCA-BR 2 100061593 100061593 insertion of <=200bp - CA intron_variant SKCA-BR 2 100062498 100062498 single base substitution G A intron_variant SKCA-BR 2 100064330 100064330 single base substitution A C intron_variant SKCA-BR 2 100065983 100065983 single base substitution A C intron_variant SKCA-BR 2 100071388 100071388 single base substitution C T intron_variant SKCA-BR 2 100071388 100071388 single base substitution C T upstream_gene_variant SKCA-BR 2 100074149 100074149 insertion of <=200bp - GA intron_variant SKCA-BR 2 100077966 100077966 single base substitution G A intron_variant SKCA-BR 2 100084035 100084035 single base substitution A G intron_variant SKCA-BR 2 100084035 100084035 single base substitution A G upstream_gene_variant SKCA-BR 2 100087577 100087577 single base substitution A C intron_variant SKCA-BR 2 100088374 100088374 single base substitution C A intron_variant SKCA-BR 2 100089831 100089831 insertion of <=200bp - AAAT intron_variant SKCA-BR 2 100093796 100093796 single base substitution G A intron_variant SKCA-BR 2 100093914 100093914 single base substitution G A intron_variant SKCA-BR 2 100096555 100096555 single base substitution A G intron_variant SKCA-BR 2 100099479 100099480 deletion of <=200bp CA - intron_variant SKCA-BR 2 100102518 100102518 single base substitution T G intron_variant SKCA-BR 2 100104446 100104446 single base substitution A G intron_variant SKCA-BR 2 100106244 100106244 single base substitution T C intron_variant SKCA-BR 2 100106250 100106250 single base substitution A C intron_variant SKCA-BR 2 100109251 100109251 single base substitution C A upstream_gene_variant SKCA-BR 2 100110969 100110969 single base substitution C T upstream_gene_variant SKCM-US 2 100020194 100020194 single base substitution C A 3_prime_UTR_variant SKCM-US 2 100020194 100020194 single base substitution C A downstream_gene_variant SKCM-US 2 100020194 100020194 single base substitution C A exon_variant SKCM-US 2 100020194 100020194 single base substitution C A intron_variant SKCM-US 2 100020194 100020194 single base substitution C A stop_gained E1043* 3127G>T SKCM-US 2 100020194 100020194 single base substitution C A stop_gained E1044* 3130G>T SKCM-US 2 100020194 100020194 single base substitution C A upstream_gene_variant SKCM-US 2 100020940 100020940 single base substitution T G 3_prime_UTR_variant SKCM-US 2 100020940 100020940 single base substitution T G downstream_gene_variant SKCM-US 2 100020940 100020940 single base substitution T G exon_variant SKCM-US 2 100020940 100020940 single base substitution T G intron_variant SKCM-US 2 100020940 100020940 single base substitution T G synonymous_variant G1003G 3009A>C SKCM-US 2 100020940 100020940 single base substitution T G synonymous_variant G1004G 3012A>C SKCM-US 2 100020940 100020940 single base substitution T G upstream_gene_variant SKCM-US 2 100038043 100038043 single base substitution G A 3_prime_UTR_variant SKCM-US 2 100038043 100038043 single base substitution G A downstream_gene_variant SKCM-US 2 100038043 100038043 single base substitution G A exon_variant SKCM-US 2 100038043 100038043 single base substitution G A synonymous_variant T582T 1746C>T SKCM-US 2 100038043 100038043 single base substitution G A synonymous_variant T583T 1749C>T SKCM-US 2 100040690 100040690 single base substitution G A 3_prime_UTR_variant SKCM-US 2 100040690 100040690 single base substitution G A downstream_gene_variant SKCM-US 2 100040690 100040690 single base substitution G A exon_variant SKCM-US 2 100040690 100040690 single base substitution G A missense_variant P533S 1597C>T SKCM-US 2 100040690 100040690 single base substitution G A missense_variant P534S 1600C>T SKCM-US 2 100050810 100050810 single base substitution G A 3_prime_UTR_variant SKCM-US 2 100050810 100050810 single base substitution G A downstream_gene_variant SKCM-US 2 100050810 100050810 single base substitution G A exon_variant SKCM-US 2 100050810 100050810 single base substitution G A synonymous_variant I112I 336C>T SKCM-US 2 100050810 100050810 single base substitution G A synonymous_variant I474I 1422C>T SKCM-US 2 100050846 100050846 single base substitution G A 3_prime_UTR_variant SKCM-US 2 100050846 100050846 single base substitution G A downstream_gene_variant SKCM-US 2 100050846 100050846 single base substitution G A exon_variant SKCM-US 2 100050846 100050846 single base substitution G A synonymous_variant N100N 300C>T SKCM-US 2 100050846 100050846 single base substitution G A synonymous_variant N462N 1386C>T SKCM-US 2 100055656 100055656 single base substitution G A 3_prime_UTR_variant SKCM-US 2 100055656 100055656 single base substitution G A exon_variant SKCM-US 2 100055656 100055656 single base substitution G A missense_variant S207F 620C>T SKCM-US 2 100055656 100055656 single base substitution G A upstream_gene_variant SKCM-US 2 100055763 100055763 single base substitution G A 3_prime_UTR_variant SKCM-US 2 100055763 100055763 single base substitution G A exon_variant SKCM-US 2 100055763 100055763 single base substitution G A synonymous_variant I171I 513C>T SKCM-US 2 100055763 100055763 single base substitution G A upstream_gene_variant SKCM-US 2 100058806 100058806 single base substitution T C 3_prime_UTR_variant SKCM-US 2 100058806 100058806 single base substitution T C exon_variant SKCM-US 2 100058806 100058806 single base substitution T C missense_variant N159S 476A>G SKCM-US 2 100058806 100058806 single base substitution T C upstream_gene_variant SKCM-US 2 100058829 100058829 single base substitution C T 3_prime_UTR_variant SKCM-US 2 100058829 100058829 single base substitution C T exon_variant SKCM-US 2 100058829 100058829 single base substitution C T synonymous_variant E151E 453G>A SKCM-US 2 100058829 100058829 single base substitution C T upstream_gene_variant SKCM-US 2 100058899 100058899 single base substitution G A 3_prime_UTR_variant SKCM-US 2 100058899 100058899 single base substitution G A exon_variant SKCM-US 2 100058899 100058899 single base substitution G A missense_variant P128L 383C>T SKCM-US 2 100058899 100058899 single base substitution G A upstream_gene_variant SKCM-US 2 100058907 100058907 single base substitution G A 3_prime_UTR_variant SKCM-US 2 100058907 100058907 single base substitution G A exon_variant SKCM-US 2 100058907 100058907 single base substitution G A synonymous_variant S125S 375C>T SKCM-US 2 100058907 100058907 single base substitution G A upstream_gene_variant SKCM-US 2 100065959 100065959 single base substitution G A 3_prime_UTR_variant SKCM-US 2 100065959 100065959 single base substitution G A exon_variant SKCM-US 2 100065959 100065959 single base substitution G A synonymous_variant S63S 189C>T SKCM-US 2 100065964 100065964 single base substitution G A missense_variant P62S 184C>T SKCM-US 2 100065964 100065964 single base substitution G A splice_region_variant STAD-US 2 100013282 100013282 single base substitution G A downstream_gene_variant STAD-US 2 100015270 100015270 insertion of <=200bp - A downstream_gene_variant STAD-US 2 100015285 100015285 single base substitution A C downstream_gene_variant STAD-US 2 100015340 100015340 single base substitution C T downstream_gene_variant STAD-US 2 100022484 100022484 single base substitution G A 3_prime_UTR_variant STAD-US 2 100022484 100022484 single base substitution G A downstream_gene_variant STAD-US 2 100022484 100022484 single base substitution G A exon_variant STAD-US 2 100022484 100022484 single base substitution G A intron_variant STAD-US 2 100022484 100022484 single base substitution G A missense_variant T899I 2696C>T STAD-US 2 100022484 100022484 single base substitution G A missense_variant T900I 2699C>T STAD-US 2 100022484 100022484 single base substitution G A upstream_gene_variant STAD-US 2 100022487 100022487 single base substitution G A 3_prime_UTR_variant STAD-US 2 100022487 100022487 single base substitution G A downstream_gene_variant STAD-US 2 100022487 100022487 single base substitution G A exon_variant STAD-US 2 100022487 100022487 single base substitution G A intron_variant STAD-US 2 100022487 100022487 single base substitution G A missense_variant P898L 2693C>T STAD-US 2 100022487 100022487 single base substitution G A missense_variant P899L 2696C>T STAD-US 2 100022487 100022487 single base substitution G A upstream_gene_variant STAD-US 2 100022521 100022521 single base substitution A G 3_prime_UTR_variant STAD-US 2 100022521 100022521 single base substitution A G downstream_gene_variant STAD-US 2 100022521 100022521 single base substitution A G exon_variant STAD-US 2 100022521 100022521 single base substitution A G intron_variant STAD-US 2 100022521 100022521 single base substitution A G missense_variant C887R 2659T>C STAD-US 2 100022521 100022521 single base substitution A G missense_variant C888R 2662T>C STAD-US 2 100022521 100022521 single base substitution A G upstream_gene_variant STAD-US 2 100029342 100029342 single base substitution T G 3_prime_UTR_variant STAD-US 2 100029342 100029342 single base substitution T G exon_variant STAD-US 2 100029342 100029342 single base substitution T G missense_variant T674P 2020A>C STAD-US 2 100029342 100029342 single base substitution T G missense_variant T675P 2023A>C STAD-US 2 100029342 100029342 single base substitution T G upstream_gene_variant STAD-US 2 100037985 100037985 single base substitution T G 3_prime_UTR_variant STAD-US 2 100037985 100037985 single base substitution T G downstream_gene_variant STAD-US 2 100037985 100037985 single base substitution T G exon_variant STAD-US 2 100037985 100037985 single base substitution T G missense_variant K602Q 1804A>C STAD-US 2 100037985 100037985 single base substitution T G missense_variant K603Q 1807A>C STAD-US 2 100038096 100038096 single base substitution C T 3_prime_UTR_variant STAD-US 2 100038096 100038096 single base substitution C T downstream_gene_variant STAD-US 2 100038096 100038096 single base substitution C T exon_variant STAD-US 2 100038096 100038096 single base substitution C T missense_variant A565T 1693G>A STAD-US 2 100038096 100038096 single base substitution C T missense_variant A566T 1696G>A STAD-US 2 100055712 100055712 single base substitution A G 3_prime_UTR_variant STAD-US 2 100055712 100055712 single base substitution A G exon_variant STAD-US 2 100055712 100055712 single base substitution A G synonymous_variant S188S 564T>C STAD-US 2 100055712 100055712 single base substitution A G upstream_gene_variant STAD-US 2 100058920 100058920 single base substitution C T 3_prime_UTR_variant STAD-US 2 100058920 100058920 single base substitution C T exon_variant STAD-US 2 100058920 100058920 single base substitution C T missense_variant G121E 362G>A STAD-US 2 100058920 100058920 single base substitution C T upstream_gene_variant STAD-US 2 100079006 100079006 single base substitution A G exon_variant STAD-US 2 100079006 100079006 single base substitution A G missense_variant S45P 133T>C THCA-SA 2 100017074 100017074 single base substitution A C 3_prime_UTR_variant THCA-SA 2 100017074 100017074 single base substitution A C downstream_gene_variant UCEC-US 2 100015222 100015222 single base substitution C T downstream_gene_variant UCEC-US 2 100019164 100019164 single base substitution C T 3_prime_UTR_variant UCEC-US 2 100019164 100019164 single base substitution C T downstream_gene_variant UCEC-US 2 100019164 100019164 single base substitution C T exon_variant UCEC-US 2 100019164 100019164 single base substitution C T intron_variant UCEC-US 2 100019164 100019164 single base substitution C T missense_variant A1161T 3481G>A UCEC-US 2 100019164 100019164 single base substitution C T missense_variant A1162T 3484G>A UCEC-US 2 100019260 100019260 single base substitution C A 3_prime_UTR_variant UCEC-US 2 100019260 100019260 single base substitution C A downstream_gene_variant UCEC-US 2 100019260 100019260 single base substitution C A exon_variant UCEC-US 2 100019260 100019260 single base substitution C A intron_variant UCEC-US 2 100019260 100019260 single base substitution C A stop_gained E1129* 3385G>T UCEC-US 2 100019260 100019260 single base substitution C A stop_gained E1130* 3388G>T UCEC-US 2 100019264 100019264 single base substitution C T downstream_gene_variant UCEC-US 2 100019264 100019264 single base substitution C T intron_variant UCEC-US 2 100019264 100019264 single base substitution C T splice_acceptor_variant UCEC-US 2 100019523 100019523 single base substitution C A 3_prime_UTR_variant UCEC-US 2 100019523 100019523 single base substitution C A downstream_gene_variant UCEC-US 2 100019523 100019523 single base substitution C A exon_variant UCEC-US 2 100019523 100019523 single base substitution C A intron_variant UCEC-US 2 100019523 100019523 single base substitution C A missense_variant K1070N 3210G>T UCEC-US 2 100019523 100019523 single base substitution C A missense_variant K1071N 3213G>T UCEC-US 2 100020164 100020164 single base substitution C T 3_prime_UTR_variant UCEC-US 2 100020164 100020164 single base substitution C T downstream_gene_variant UCEC-US 2 100020164 100020164 single base substitution C T exon_variant UCEC-US 2 100020164 100020164 single base substitution C T intron_variant UCEC-US 2 100020164 100020164 single base substitution C T missense_variant A1053T 3157G>A UCEC-US 2 100020164 100020164 single base substitution C T missense_variant A1054T 3160G>A UCEC-US 2 100020164 100020164 single base substitution C T upstream_gene_variant UCEC-US 2 100022458 100022458 single base substitution A G 3_prime_UTR_variant UCEC-US 2 100022458 100022458 single base substitution A G downstream_gene_variant UCEC-US 2 100022458 100022458 single base substitution A G exon_variant UCEC-US 2 100022458 100022458 single base substitution A G intron_variant UCEC-US 2 100022458 100022458 single base substitution A G missense_variant S908P 2722T>C UCEC-US 2 100022458 100022458 single base substitution A G missense_variant S909P 2725T>C UCEC-US 2 100022458 100022458 single base substitution A G upstream_gene_variant UCEC-US 2 100022486 100022486 single base substitution C T 3_prime_UTR_variant UCEC-US 2 100022486 100022486 single base substitution C T downstream_gene_variant UCEC-US 2 100022486 100022486 single base substitution C T exon_variant UCEC-US 2 100022486 100022486 single base substitution C T intron_variant UCEC-US 2 100022486 100022486 single base substitution C T synonymous_variant P898P 2694G>A UCEC-US 2 100022486 100022486 single base substitution C T synonymous_variant P899P 2697G>A UCEC-US 2 100022486 100022486 single base substitution C T upstream_gene_variant UCEC-US 2 100027262 100027262 single base substitution C T 3_prime_UTR_variant UCEC-US 2 100027262 100027262 single base substitution C T exon_variant UCEC-US 2 100027262 100027262 single base substitution C T missense_variant G746D 2237G>A UCEC-US 2 100027262 100027262 single base substitution C T missense_variant G747D 2240G>A UCEC-US 2 100027262 100027262 single base substitution C T upstream_gene_variant UCEC-US 2 100027276 100027278 deletion of <=200bp TCT - 3_prime_UTR_variant UCEC-US 2 100027276 100027278 deletion of <=200bp TCT - exon_variant UCEC-US 2 100027276 100027278 deletion of <=200bp TCT - inframe_deletion R741 UCEC-US 2 100027276 100027278 deletion of <=200bp TCT - inframe_deletion R742 UCEC-US 2 100027276 100027278 deletion of <=200bp TCT - upstream_gene_variant UCEC-US 2 100029223 100029223 single base substitution A G 3_prime_UTR_variant UCEC-US 2 100029223 100029223 single base substitution A G exon_variant UCEC-US 2 100029223 100029223 single base substitution A G synonymous_variant A713A 2139T>C UCEC-US 2 100029223 100029223 single base substitution A G synonymous_variant A714A 2142T>C UCEC-US 2 100029223 100029223 single base substitution A G upstream_gene_variant UCEC-US 2 100035344 100035344 single base substitution T G 3_prime_UTR_variant UCEC-US 2 100035344 100035344 single base substitution T G exon_variant UCEC-US 2 100035344 100035344 single base substitution T G missense_variant K632Q 1894A>C UCEC-US 2 100035344 100035344 single base substitution T G missense_variant K633Q 1897A>C UCEC-US 2 100037986 100037986 single base substitution C T 3_prime_UTR_variant UCEC-US 2 100037986 100037986 single base substitution C T downstream_gene_variant UCEC-US 2 100037986 100037986 single base substitution C T exon_variant UCEC-US 2 100037986 100037986 single base substitution C T synonymous_variant T601T 1803G>A UCEC-US 2 100037986 100037986 single base substitution C T synonymous_variant T602T 1806G>A UCEC-US 2 100037995 100037995 single base substitution T C 3_prime_UTR_variant UCEC-US 2 100037995 100037995 single base substitution T C downstream_gene_variant UCEC-US 2 100037995 100037995 single base substitution T C exon_variant UCEC-US 2 100037995 100037995 single base substitution T C synonymous_variant K598K 1794A>G UCEC-US 2 100037995 100037995 single base substitution T C synonymous_variant K599K 1797A>G UCEC-US 2 100055064 100055064 single base substitution T G exon_variant UCEC-US 2 100055064 100055064 single base substitution T G splice_region_variant UCEC-US 2 100055196 100055196 single base substitution G A 3_prime_UTR_variant UCEC-US 2 100055196 100055196 single base substitution G A exon_variant UCEC-US 2 100055196 100055196 single base substitution G A synonymous_variant H360H 1080C>T UCEC-US 2 100055196 100055196 single base substitution G A upstream_gene_variant UCEC-US 2 100065800 100065800 single base substitution T G missense_variant E116D 348A>C UCEC-US 2 100065800 100065800 single base substitution T G splice_region_variant UCEC-US 2 100065844 100065844 single base substitution C A 3_prime_UTR_variant UCEC-US 2 100065844 100065844 single base substitution C A exon_variant UCEC-US 2 100065844 100065844 single base substitution C A stop_gained E102* 304G>T UCEC-US 2 100065942 100065942 single base substitution T G 3_prime_UTR_variant UCEC-US 2 100065942 100065942 single base substitution T G exon_variant UCEC-US 2 100065942 100065942 single base substitution T G missense_variant K69T 206A>C UCEC-US 2 100081431 100081431 single base substitution G A exon_variant UCEC-US 2 100081431 100081431 single base substitution G A stop_gained R3* 7C>T UCEC-US 2 100081431 100081431 single base substitution G A upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-HI-7168-01 COSM3673439 c.1095G>A p.K365K Substitution - coding silent 2:99438719-99438719 - SNUH_G16_S1 COSM4001089 c.770T>C p.F257S Substitution - Missense 2:99439044-99439044 - TCGA-21-1078-01 COSM715027 c.648G>A p.P216P Substitution - coding silent 2:99439166-99439166 - AOCS-088-3-8 COSM4128053 c.2216T>C p.I739T Substitution - Missense 2:99410824-99410824 - PCSI_0269_Pa_P_526 COSM4961946 c.2116G>A p.E706K Substitution - Missense 2:99412787-99412787 - TCGA-AZ-4315-01 COSM1410293 c.2587A>G p.K863E Substitution - Missense 2:99406352-99406352 - 19 COSM5745932 c.3245C>T p.S1082L Substitution - Missense 2:99403028-99403028 - TCGA-CG-4465-01 COSM4083696 c.2699C>T p.T900I Substitution - Missense 2:99406022-99406022 - CHC1775T COSM4800931 c.2440A>G p.M814V Substitution - Missense 2:99408037-99408037 - TCGA-EA-A3QD-01 COSM4821826 c.388C>G p.Q130E Substitution - Missense 2:99442432-99442432 - TCGA-AX-A0J1-01 COSM1004414 c.7C>T p.R3* Substitution - Nonsense 2:99464969-99464969 - TCGA-AM-5820-01 COSM3757517 c.412G>A p.V138M Substitution - Missense 2:99442408-99442408 - SC_9047 COSM5552090 c.1034A>C p.D345A Substitution - Missense 2:99438780-99438780 - PDA_065 COSM5001380 c.3503T>G p.V1168G Substitution - Missense 2:99402682-99402682 - T207 COSM4721094 c.1021T>C p.S341P Substitution - Missense 2:99438793-99438793 - BD242T COSM5495772 c.229C>T p.Q77* Substitution - Nonsense 2:99449457-99449457 - BD236T COSM3730653 c.1832-6delT p.? Unknown 2:99418953-99418953 - TCGA-AA-A00N-01 COSM277043 c.2111G>A p.R704Q Substitution - Missense 2:99412792-99412792 - TCGA-MI-A75C-01 COSM4922973 c.1444A>G p.I482V Substitution - Missense 2:99429943-99429943 - sysucc-774T COSM5461605 c.1428A>T p.K476N Substitution - Missense 2:99434342-99434342 - YUPAER COSM5393932 c.3116G>A p.R1039K Substitution - Missense 2:99403745-99403745 - TCGA-BS-A0UF-01 COSM1004403 c.2697G>A p.P899P Substitution - coding silent 2:99406024-99406024 - TCGA-D5-6928-01 COSM1410292 c.2907A>C p.K969N Substitution - Missense 2:99404582-99404582 - 3101B7_032_T COSM5042296 c.554G>A p.G185D Substitution - Missense 2:99439260-99439260 - Gp2D COSM2979546 c.2703T>C p.S901S Substitution - coding silent 2:99406018-99406018 - PD8640a COSM3720367 c.2021T>C p.M674T Substitution - Missense 2:99412882-99412882 - TCGA-EE-A2MJ-06 COSM3564222 c.513C>T p.I171I Substitution - coding silent 2:99439301-99439301 - Pat_26_A COSM5859743 c.1300C>T p.R434* Substitution - Nonsense 2:99435855-99435855 - TCGA-BS-A0UJ-01 COSM1004409 c.1212A>C p.T404T Substitution - coding silent 2:99438602-99438602 - CHEWS021 COSM4582528 c.3311G>C p.G1104A Substitution - Missense 2:99402962-99402962 - TCGA-04-1347-01 COSM81650 c.993G>A p.T331T Substitution - coding silent 2:99438821-99438821 - CSCC-27-T COSM171107 c.1783C>T p.R595C Substitution - Missense 2:99421547-99421547 - 587376 COSM1223559 c.3495C>A p.F1165L Substitution - Missense 2:99402690-99402690 - TCGA-AA-3973-01 COSM297390 c.3174G>A p.K1058K Substitution - coding silent 2:99403099-99403099 - TCGA-AP-A059-01 COSM1004410 c.1080C>T p.H360H Substitution - coding silent 2:99438734-99438734 - YUKAT COSM5393933 c.1691T>C p.I564T Substitution - Missense 2:99421639-99421639 - SC_9047 COSM2979583 c.991A>G p.T331A Substitution - Missense 2:99438823-99438823 - PR-3026 COSM247010 c.475A>T p.N159Y Substitution - Missense 2:99442345-99442345 - TCGA-CG-5726-01 COSM4083698 c.2023A>C p.T675P Substitution - Missense 2:99412880-99412880 - C91 COSM171107 c.1783C>T p.R595C Substitution - Missense 2:99421547-99421547 - HCC2998 COSM2979540 c.2910G>T p.K970N Substitution - Missense 2:99404579-99404579 - 3N38-VS-3T38 COSM4981374 c.2577G>T p.Q859H Substitution - Missense 2:99406362-99406362 - Gp5D COSM2979535 c.3138C>T p.S1046S Substitution - coding silent 2:99403723-99403723 - YUMER COSM1690805 c.3070C>T p.L1024F Substitution - Missense 2:99403791-99403791 - PA285 COSM1163268 c.1526C>T p.A509V Substitution - Missense 2:99429861-99429861 - Pat_60_B COSM1410296 c.1174delA p.M392fs*1 Deletion - Frameshift 2:99438640-99438640 - ESCC_149 COSM5644843 c.767C>T p.A256V Substitution - Missense 2:99439047-99439047 - 73 COSM5014239 c.3125A>G p.Q1042R Substitution - Missense 2:99403736-99403736 - TCGA-BH-A0HF-01 COSM3836379 c.2005G>A p.G669R Substitution - Missense 2:99412898-99412898 - S02246 COSM5678972 c.3348delT p.L1117fs*1 Deletion - Frameshift 2:99402925-99402925 - TCGA-BH-A0DZ-01 COSM440882 c.201G>A p.L67L Substitution - coding silent 2:99449485-99449485 - B80-13-Tumor COSM1757062 c.1744G>C p.E582Q Substitution - Missense 2:99421586-99421586 - HCC163 COSM3708763 c.589G>C p.D197H Substitution - Missense 2:99439225-99439225 - TCGA-ER-A193-06 COSM3564217 c.3012A>C p.G1004G Substitution - coding silent 2:99404477-99404477 - 1020 COSM5730586 c.3040T>C p.S1014P Substitution - Missense 2:99404449-99404449 - LC_S11 COSM1185969 c.45G>T p.W15C Substitution - Missense 2:99464931-99464931 - TCGA-B5-A11E-01 COSM1004411 c.348A>C p.E116D Substitution - Missense 2:99449338-99449338 - PD4602a COSM163986 c.2433A>G p.I811M Substitution - Missense 2:99408044-99408044 - I2L-P25-Tumor-Organoid COSM5354537 c.2944T>C p.L982L Substitution - coding silent 2:99404545-99404545 - TCGA-B5-A0K9-01 COSM1004408 c.1797A>G p.K599K Substitution - coding silent 2:99421533-99421533 - PTC-7C COSM4001089 c.770T>C p.F257S Substitution - Missense 2:99439044-99439044 - TCGA-H4-A2HQ-01 COSM1305450 c.3105G>A p.A1035A Substitution - coding silent 2:99403756-99403756 - TCGA-FP-A4BE-01 COSM2979547 c.2696C>T p.P899L Substitution - Missense 2:99406025-99406025 - ATL004 COSM5707699 c.953A>C p.Q318P Substitution - Missense 2:99438861-99438861 - LUAD-YINHD COSM350337 c.3395C>G p.S1132C Substitution - Missense 2:99402790-99402790 - HCC167 COSM3708762 c.1547+9A>C p.? Unknown 2:99429831-99429831 - AOCS-167-13-9 COSM4128052 c.3045+1G>A p.? Unknown 2:99404443-99404443 - TCGA-AP-A056-01 COSM1004413 c.206A>C p.K69T Substitution - Missense 2:99449480-99449480 - HN_62995 COSM125822 c.2620C>T p.R874W Substitution - Missense 2:99406101-99406101 - EGC15 COSM5057939 c.1261C>T p.H421Y Substitution - Missense 2:99435894-99435894 - B110-Tumor COSM1752738 c.2209G>C p.E737Q Substitution - Missense 2:99410831-99410831 - pfg016T COSM1641592 c.2844T>G p.P948P Substitution - coding silent 2:99404645-99404645 - WSU-HN6 COSM4603209 c.2274_2275insT p.V759fs*20 Insertion - Frameshift 2:99410765-99410766 - RK032_C01 COSM1631213 c.828G>T p.L276L Substitution - coding silent 2:99438986-99438986 - PT24_1 COSM5904159 c.3681G>A p.M1227I Substitution - Missense 2:99401316-99401316 - TCGA-FD-A3SN-01 COSM3797780 c.3497A>G p.N1166S Substitution - Missense 2:99402688-99402688 - 40M COSM5586408 c.2343C>T p.A781A Substitution - coding silent 2:99410697-99410697 - RK308_C01 COSM3743230 c.2311T>C p.F771L Substitution - Missense 2:99410729-99410729 - 0059_CRUK_PC_0059_T1_DNA COSM5423038 c.707T>C p.L236S Substitution - Missense 2:99439107-99439107 - BD124T COSM5491428 c.3234_3235insA p.T1079fs*14 Insertion - Frameshift 2:99403038-99403039 - SNUH_G26_S1 COSM4001088 c.3240T>C p.I1080I Substitution - coding silent 2:99403033-99403033 - TCGA-CD-A4MI-01 COSM4083703 c.133T>C p.S45P Substitution - Missense 2:99462544-99462544 - TCGA-D1-A15X-01 COSM1004406 c.2142T>C p.A714A Substitution - coding silent 2:99412761-99412761 - RMS110_ COSM4987229 c.896C>T p.S299L Substitution - Missense 2:99438918-99438918 - TCGA-AA-A00N-01 COSM277044 c.1467G>A p.E489E Substitution - coding silent 2:99429920-99429920 - T3090 COSM4721092 c.3066T>A p.A1022A Substitution - coding silent 2:99403795-99403795 - OSCC-GB_01050111 COSM4889866 c.1811G>T p.C604F Substitution - Missense 2:99421519-99421519 - B80-13 COSM1757062 c.1744G>C p.E582Q Substitution - Missense 2:99421586-99421586 - ESCC_BICR_060T COSM5435004 c.1038C>T p.C346C Substitution - coding silent 2:99438776-99438776 - TCGA-HU-8602-01 COSM4083701 c.564T>C p.S188S Substitution - coding silent 2:99439250-99439250 - TCGA-CF-A1HR-01 COSM418663 c.3349C>T p.L1117L Substitution - coding silent 2:99402924-99402924 - TCGA-B5-A11N-01 COSM1004400 c.3213G>T p.K1071N Substitution - Missense 2:99403060-99403060 - WSU-HN13 COSM4601461 c.3341A>G p.D1114G Substitution - Missense 2:99402932-99402932 - RK015_C COSM1631212 c.2194C>T p.L732F Substitution - Missense 2:99410846-99410846 - TCGA-18-3409-01 COSM715026 c.610G>A p.E204K Substitution - Missense 2:99439204-99439204 - TCGA-FW-A3R5-06 COSM3894361 c.620C>T p.S207F Substitution - Missense 2:99439194-99439194 - sysucc-311T COSM5464984 c.790G>A p.A264T Substitution - Missense 2:99439024-99439024 - ESCC_5 COSM5623202 c.1101A>G p.E367E Substitution - coding silent 2:99438713-99438713 - BD124T COSM5491429 c.443G>A p.C148Y Substitution - Missense 2:99442377-99442377 - T578 COSM4721097 c.558G>T p.M186I Substitution - Missense 2:99439256-99439256 - PCSI_0217_Pa_P_526 COSM4806798 c.925A>T p.I309F Substitution - Missense 2:99438889-99438889 - PD18017a COSM5773769 c.28G>T p.A10S Substitution - Missense 2:99464948-99464948 - RKO COSM4648427 c.241T>C p.Y81H Substitution - Missense 2:99449445-99449445 - TCGA-BF-A1PV-01 COSM3564219 c.1600C>T p.P534S Substitution - Missense 2:99424228-99424228 - YUAKER COSM1690806 c.2008G>A p.D670N Substitution - Missense 2:99412895-99412895 - TCGA-BS-A0UF-01 COSM1004412 c.304G>T p.E102* Substitution - Nonsense 2:99449382-99449382 - TCGA-AD-6895-01 COSM1410289 c.3378A>G p.K1126K Substitution - coding silent 2:99402895-99402895 - SA054 COSM213095 c.1621T>A p.Y541N Substitution - Missense 2:99424207-99424207 - 2367457 COSM5004044 c.2013G>T p.L671F Substitution - Missense 2:99412890-99412890 - Pat_01_B COSM5859740 c.3121_3122AG>GA p.R1041E Substitution - Missense 2:99403739-99403740 - RK015_C01 COSM1631212 c.2194C>T p.L732F Substitution - Missense 2:99410846-99410846 - YULOCUS COSM5393934 c.823_824AC>TT p.T275F Substitution - Missense 2:99438990-99438991 - BK0021 COSM4186275 c.454G>T p.D152Y Substitution - Missense 2:99442366-99442366 - TCGA-CC-A7IK-01 COSM4925057 c.478A>G p.I160V Substitution - Missense 2:99442342-99442342 - ESO-859 COSM1240043 c.1761T>C p.P587P Substitution - coding silent 2:99421569-99421569 - TCGA-F5-6814-01 COSM3425035 c.101G>A p.R34Q Substitution - Missense 2:99462576-99462576 - TCGA-CG-5726-01 COSM4083700 c.1696G>A p.A566T Substitution - Missense 2:99421634-99421634 - TCGA-AX-A063-01 COSM1004405 c.2224_2226delAGA p.R742delR Deletion - In frame 2:99410814-99410816 - PTC-14C COSM4132902 c.2569C>A p.Q857K Substitution - Missense 2:99406370-99406370 - TCGA-EE-A2M5-06 COSM3564221 c.1386C>T p.N462N Substitution - coding silent 2:99434384-99434384 - SNU-C2B COSM2979596 c.35delA p.N12fs*56 Deletion - Frameshift 2:99464941-99464941 - TCGA-D1-A103-01 COSM1004407 c.1897A>C p.K633Q Substitution - Missense 2:99418882-99418882 - SNUH_G16_S1 COSM4001087 c.3240T>G p.I1080M Substitution - Missense 2:99403033-99403033 - ESO-717 COSM1242767 c.71C>T p.A24V Substitution - Missense 2:99462606-99462606 - TCGA-CM-6172-01 COSM1410295 c.1237C>T p.P413S Substitution - Missense 2:99435918-99435918 - TCGA-BF-A3DL-01 COSM4904479 c.184C>T p.P62S Substitution - Missense 2:99449502-99449502 - MO_1012 COSM5550021 c.1481C>T p.A494V Substitution - Missense 2:99429906-99429906 - CPCG0348-F1 COSM1004396 c.3669G>A p.S1223S Substitution - coding silent 2:99401328-99401328 - 1920_T COSM3960853 c.729G>T p.V243V Substitution - coding silent 2:99439085-99439085 - I2L-P19Ta-Tumor-Organoid COSM5354122 c.1486G>A p.A496T Substitution - Missense 2:99429901-99429901 - TCGA-IH-A3EA-01 COSM3564216 c.3130G>T p.E1044* Substitution - Nonsense 2:99403731-99403731 - TCGA-BR-A4QL-01 COSM4083702 c.362G>A p.G121E Substitution - Missense 2:99442458-99442458 - TCGA-CG-5726-01 COSM4083697 c.2662T>C p.C888R Substitution - Missense 2:99406059-99406059 - B74 COSM1757063 c.1326A>T p.K442N Substitution - Missense 2:99434444-99434444 - Pat_41_B COSM5859744 c.182-1G>A p.? Unknown 2:99449505-99449505 - C91 COSM125822 c.2620C>T p.R874W Substitution - Missense 2:99406101-99406101 - Pat_70_B COSM1410296 c.1174delA p.M392fs*1 Deletion - Frameshift 2:99438640-99438640 - PTC-14C COSM4132903 c.863C>G p.A288G Substitution - Missense 2:99438951-99438951 - STC252 COSM5057938 c.1547+2T>C p.? Unknown 2:99429838-99429838 - B110 COSM1752738 c.2209G>C p.E737Q Substitution - Missense 2:99410831-99410831 - HX26T COSM3708761 c.3121A>G p.R1041G Substitution - Missense 2:99403740-99403740 - TCGA-CA-6717-01 COSM1410294 c.1413G>T p.Q471H Substitution - Missense 2:99434357-99434357 - TCGA-B0-4811-01 COSM475649 c.1187G>C p.R396T Substitution - Missense 2:99438627-99438627 - CSCC-31-T COSM4493986 c.424C>T p.L142F Substitution - Missense 2:99442396-99442396 - TCGA-AO-A0JD-01 COSM440880 c.3382C>G p.L1128V Substitution - Missense 2:99402891-99402891 - T578 COSM4721095 c.974G>T p.S325I Substitution - Missense 2:99438840-99438840 - T3240 COSM4721098 c.328C>T p.R110* Substitution - Nonsense 2:99449358-99449358 - S0057 COSM5883223 c.351C>A p.S117R Substitution - Missense 2:99442469-99442469 - 8035693 COSM3390816 c.647C>T p.P216L Substitution - Missense 2:99439167-99439167 - LP6005334-DNA_A04 COSM4412276 c.2895A>G p.S965S Substitution - coding silent 2:99404594-99404594 - TCGA-B5-A0JY-01 COSM1004402 c.2725T>C p.S909P Substitution - Missense 2:99405996-99405996 - QC2-32-T2 COSM5114887 c.3007G>A p.A1003T Substitution - Missense 2:99404482-99404482 - T3064 COSM1410296 c.1174delA p.M392fs*1 Deletion - Frameshift 2:99438640-99438640 - TCGA-DV-5575-01 COSM3364178 c.3465A>C p.P1155P Substitution - coding silent 2:99402720-99402720 - ESCC_3 COSM5622585 c.976A>G p.T326A Substitution - Missense 2:99438838-99438838 - PR-00-1165 COSM247009 c.3517A>G p.R1173G Substitution - Missense 2:99402668-99402668 - AOCS-167-3-2 COSM4128052 c.3045+1G>A p.? Unknown 2:99404443-99404443 - TCGA-CM-5861-01 COSM1410296 c.1174delA p.M392fs*1 Deletion - Frameshift 2:99438640-99438640 - YUKAT COSM4904479 c.184C>T p.P62S Substitution - Missense 2:99449502-99449502 - TCGA-85-6561-01 COSM715028 c.1973C>T p.S658F Substitution - Missense 2:99412930-99412930 - TCGA-AX-A0J0-01 COSM199332 c.1806G>A p.T602T Substitution - coding silent 2:99421524-99421524 - B80 COSM1752739 c.497A>G p.N166S Substitution - Missense 2:99442323-99442323 - TCGA-AM-5821-01 COSM3757516 c.1118A>G p.N373S Substitution - Missense 2:99438696-99438696 - B80-Tumor COSM1752739 c.497A>G p.N166S Substitution - Missense 2:99442323-99442323 - YUKAT COSM5393930 c.3644+2T>C p.? Unknown 2:99402242-99402242 - TCGA-AA-3833-01 COSM271500 c.3166G>T p.V1056L Substitution - Missense 2:99403695-99403695 - AOCS-167-16-X COSM4128052 c.3045+1G>A p.? Unknown 2:99404443-99404443 - TARGET-20-PADZCG-09A-01D COSM5487229 c.3350T>C p.L1117P Substitution - Missense 2:99402923-99402923 - T578 COSM2979571 c.1732G>A p.E578K Substitution - Missense 2:99421598-99421598 - RK144_C01 COSM3743231 c.184C>A p.P62T Substitution - Missense 2:99449502-99449502 - TCGA-CM-5868-01 COSM1410290 c.3235delA p.T1079fs*12 Deletion - Frameshift 2:99403038-99403038 - sysucc-1370T COSM5471259 c.15A>G p.G5G Substitution - coding silent 2:99464961-99464961 - TCGA-FG-7641-01 COSM3971452 c.68C>T p.A23V Substitution - Missense 2:99462609-99462609 - TCGA-JX-A3Q0-01 COSM4824557 c.1609C>T p.Q537* Substitution - Nonsense 2:99424219-99424219 - B74-Tumor COSM1757063 c.1326A>T p.K442N Substitution - Missense 2:99434444-99434444 - WA12 COSM241395 c.2288G>C p.G763A Substitution - Missense 2:99410752-99410752 - Pat_01_B COSM1410296 c.1174delA p.M392fs*1 Deletion - Frameshift 2:99438640-99438640 - SNU-C4 COSM4653316 c.1802A>G p.Q601R Substitution - Missense 2:99421528-99421528 - TCGA-B4-5832-01 COSM1494500 c.3254G>A p.R1085K Substitution - Missense 2:99403019-99403019 - LC_S48 COSM1185968 c.221A>G p.H74R Substitution - Missense 2:99449465-99449465 - PT36 COSM5914993 c.2596G>A p.E866K Substitution - Missense 2:99406343-99406343 - TCGA-B9-4115-01 COSM3990472 c.3482G>A p.G1161E Substitution - Missense 2:99402703-99402703 - CSCC-38-T COSM1690805 c.3070C>T p.L1024F Substitution - Missense 2:99403791-99403791 - TCGA-EI-6917-01 COSM2979571 c.1732G>A p.E578K Substitution - Missense 2:99421598-99421598 - T8 COSM236850 c.2876C>G p.A959G Substitution - Missense 2:99404613-99404613 - Pat_01_A COSM5859740 c.3121_3122AG>GA p.R1041E Substitution - Missense 2:99403739-99403740 - TCGA-AG-A002-01 COSM263304 c.2454G>T p.G818G Substitution - coding silent 2:99406485-99406485 - TCGA-EI-6917-01 COSM3425034 c.1301G>A p.R434Q Substitution - Missense 2:99435854-99435854 - TCGA-66-2795-01 COSM715024 c.59G>A p.G20E Substitution - Missense 2:99462618-99462618 - Pat_45_B COSM5859742 c.2174C>T p.P725L Substitution - Missense 2:99410866-99410866 - T3064 COSM4721099 c.315G>A p.G105G Substitution - coding silent 2:99449371-99449371 - LP6005334-DNA_C03 COSM5036561 c.1554T>G p.L518L Substitution - coding silent 2:99424274-99424274 - AOCS-088-1-0 COSM4128053 c.2216T>C p.I739T Substitution - Missense 2:99410824-99410824 - YUSPO COSM5393931 c.3449delG p.G1150fs*3 Deletion - Frameshift 2:99402736-99402736 - TCGA-B5-A11H-01 COSM1004399 c.3385-1G>A p.? Unknown 2:99402801-99402801 - TCGA-EE-A29D-06 COSM3564225 c.383C>T p.P128L Substitution - Missense 2:99442437-99442437 - RKO COSM2979526 c.3585T>C p.T1195T Substitution - coding silent 2:99402303-99402303 - TCGA-AG-3892-01 COSM257879 c.329G>A p.R110Q Substitution - Missense 2:99449357-99449357 - TCGA-EI-6917-01 COSM3425033 c.3330G>A p.Q1110Q Substitution - coding silent 2:99402943-99402943 - CLL008 COSM1291269 c.2711C>T p.T904I Substitution - Missense 2:99406010-99406010 - ZZUFHECRKL-G033T COSM4001089 c.770T>C p.F257S Substitution - Missense 2:99439044-99439044 - PD6763a COSM1638084 c.137C>G p.S46C Substitution - Missense 2:99462540-99462540 - RKO COSM2979585 c.664A>G p.T222A Substitution - Missense 2:99439150-99439150 - SNUH_G16_S1 COSM3757517 c.412G>A p.V138M Substitution - Missense 2:99442408-99442408 - TCGA-F4-6570-01 COSM1410291 c.3170C>T p.P1057L Substitution - Missense 2:99403103-99403103 - TCGA-GV-A3JZ-01 COSM1305451 c.1241G>C p.R414T Substitution - Missense 2:99435914-99435914 - I2L-P19Ta-Tumor-Biopsy COSM5354122 c.1486G>A p.A496T Substitution - Missense 2:99429901-99429901 - 517 COSM5612059 c.14G>C p.G5A Substitution - Missense 2:99464962-99464962 - TCGA-HT-8564-01 COSM3971451 c.2510G>A p.R837H Substitution - Missense 2:99406429-99406429 - CHC1775T COSM4800931 c.2440A>G p.M814V Substitution - Missense 2:99408037-99408037 - ESCC_BICR_061T COSM5430808 c.150T>C p.S50S Substitution - coding silent 2:99462527-99462527 - Pat_45_B COSM5859741 c.2762G>A p.S921N Substitution - Missense 2:99405959-99405959 - TCGA-EE-A3AC-06 COSM3564218 c.1749C>T p.T583T Substitution - coding silent 2:99421581-99421581 - TCGA-AX-A0J1-01 COSM1004401 c.3160G>A p.A1054T Substitution - Missense 2:99403701-99403701 - PCSI_0334_Pa_P_526 COSM4807812 c.224G>A p.G75E Substitution - Missense 2:99449462-99449462 - TCGA-39-5037-01 COSM715025 c.291T>A p.N97K Substitution - Missense 2:99449395-99449395 - J30_T COSM3960852 c.1372C>T p.R458C Substitution - Missense 2:99434398-99434398 - SNUH_G73_S1 COSM4001089 c.770T>C p.F257S Substitution - Missense 2:99439044-99439044 - HCC163T COSM3708763 c.589G>C p.D197H Substitution - Missense 2:99439225-99439225 - ESO-1481 COSM1264019 c.325A>G p.I109V Substitution - Missense 2:99449361-99449361 - T3094 COSM1410290 c.3235delA p.T1079fs*12 Deletion - Frameshift 2:99403038-99403038 - T3090 COSM4721093 c.2160_2162delAAG p.I720_R721>M Complex - deletion inframe 2:99412741-99412743 - MO_1012 COSM5546995 c.147delT p.F49fs*19 Deletion - Frameshift 2:99462530-99462530 - TCGA-A2-A0CL-01 COSM440881 c.1511C>G p.S504* Substitution - Nonsense 2:99429876-99429876 - TCGA-FV-A2QR-01 COSM4938891 c.1952-1G>A p.? Unknown 2:99412952-99412952 - TCGA-BH-A18G-01 COSM3836377 c.3414G>C p.V1138V Substitution - coding silent 2:99402771-99402771 - PT24_1 COSM5904158 c.3682G>A p.A1228T Substitution - Missense 2:99401315-99401315 - T3094 COSM4721096 c.870G>A p.R290R Substitution - coding silent 2:99438944-99438944 - TARGET-20-PADZCG-04A-01D COSM5487229 c.3350T>C p.L1117P Substitution - Missense 2:99402923-99402923 - T3151 COSM3797780 c.3497A>G p.N1166S Substitution - Missense 2:99402688-99402688 - BD35T COSM5520107 c.1114G>T p.V372F Substitution - Missense 2:99438700-99438700 - 587376 COSM1223560 c.2214A>C p.E738D Substitution - Missense 2:99410826-99410826 - C0092T COSM4154461 c.758T>C p.L253P Substitution - Missense 2:99439056-99439056 - TCGA-04-1338-01 COSM82333 c.3105G>C p.A1035A Substitution - coding silent 2:99403756-99403756 - TCGA-EE-A29S-06 COSM3564227 c.189C>T p.S63S Substitution - coding silent 2:99449497-99449497 - 587222 COSM199339 c.1250G>A p.S417N Substitution - Missense 2:99435905-99435905 - PDA_060 COSM4001089 c.770T>C p.F257S Substitution - Missense 2:99439044-99439044 - TCGA-22-1002-01 COSM715029 c.3244T>C p.S1082P Substitution - Missense 2:99403029-99403029 - ESCC_BICR_007T COSM5434117 c.2595C>T p.T865T Substitution - coding silent 2:99406344-99406344 - LUAD-CHTN-3090346 COSM391254 c.2034_2035insA p.L679fs*15 Insertion - Frameshift 2:99412868-99412869 - TCGA-AP-A0LM-01 COSM1004397 c.3484G>A p.A1162T Substitution - Missense 2:99402701-99402701 - Gp5D COSM2979546 c.2703T>C p.S901S Substitution - coding silent 2:99406018-99406018 - TCGA-EE-A182-06 COSM3564220 c.1422C>T p.I474I Substitution - coding silent 2:99434348-99434348 - TCGA-EE-A3AE-06 COSM3564223 c.476A>G p.N159S Substitution - Missense 2:99442344-99442344 - TCGA-A5-A0G9-01 COSM1004396 c.3669G>A p.S1223S Substitution - coding silent 2:99401328-99401328 - sysucc-882T COSM5447385 c.482C>A p.A161D Substitution - Missense 2:99442338-99442338 - T578 COSM4721100 c.23A>C p.K8T Substitution - Missense 2:99464953-99464953 - LUAD-5V8LT COSM401994 c.1504G>T p.V502F Substitution - Missense 2:99429883-99429883 - TCGA-FS-A1ZD-06 COSM3564224 c.453G>A p.E151E Substitution - coding silent 2:99442367-99442367 - BD207T COSM5495259 c.2955A>C p.P985P Substitution - coding silent 2:99404534-99404534 - TCGA-A8-A09Z-01 COSM3836378 c.3368C>A p.P1123H Substitution - Missense 2:99402905-99402905 - TCGA-EE-A2MS-06 COSM3564226 c.375C>T p.S125S Substitution - coding silent 2:99442445-99442445 - TCGA-BR-8680-01 COSM4083699 c.1807A>C p.K603Q Substitution - Missense 2:99421523-99421523 - T2940 COSM4721091 c.3160G>T p.A1054S Substitution - Missense 2:99403701-99403701 - TCGA-A2-A0CU-01 COSM440879 c.3382C>T p.L1128L Substitution - coding silent 2:99402891-99402891 - TCGA-A7-A13E-01 COSM3836380 c.1337T>G p.V446G Substitution - Missense 2:99434433-99434433 - Gp2D COSM2979535 c.3138C>T p.S1046S Substitution - coding silent 2:99403723-99403723 - HCC167T COSM3708762 c.1547+9A>C p.? Unknown 2:99429831-99429831 - TCGA-AA-A010-01 COSM284547 c.3646C>T p.L1216L Substitution - coding silent 2:99401351-99401351 - 587220 COSM1223558 c.2798C>T p.P933L Substitution - Missense 2:99405923-99405923 - TCGA-B5-A0JY-01 COSM1004404 c.2240G>A p.G747D Substitution - Missense 2:99410800-99410800 - 234 COSM3730653 c.1832-6delT p.? Unknown 2:99418953-99418953 - LC_S11 COSM1185970 c.44G>T p.W15L Substitution - Missense 2:99464932-99464932 - Sample_1 COSM3757517 c.412G>A p.V138M Substitution - Missense 2:99442408-99442408 - TCGA-B5-A11E-01 COSM1004398 c.3388G>T p.E1130* Substitution - Nonsense 2:99402797-99402797 - TCGA-BH-A18G-01 COSM3836381 c.731C>T p.P244L Substitution - Missense 2:99439083-99439083 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.443077 2q11.1-q11.2 606134

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Synonymous p.P948P c.2844T>G 2 100021108 STAD A G 3-UTRSNV . c.3753+351T>C 2 100017356 HC A G IntronicSNV . c.1548-132T>C 2 100040874 CM A G Missense p.C888R c.2662T>C 2 100022521 STAD A G Missense p.L457S c.1370T>C 2 100050862 STAD A G Missense p.S1082P c.3244T>C 2 100019492 LUSC A G Synonymous p.A566A c.1698T>C 2 100038094 LUAD A G Synonymous p.P587P c.1761T>C 2 100038031 ESCA A T Missense p.N97K c.291T>A 2 100065857 LUSC A T Missense p.Y541N c.1621T>A 2 100040669 BRCA C A Nonsense p.E1044* c.3130G>T 2 100020194 CM C A Synonymous p.L276L c.828G>T 2 100055448 HC C G Missense p.R396T c.1187G>C 2 100055089 RCCC C G Missense p.R414T c.1241G>C 2 100052376 BLCA C G Synonymous p.A1035A c.3105G>C 2 100020219 OV C T Missense p.A566T c.1696G>A 2 100038096 STAD C T Missense p.G20E c.59G>A 2 100079080 LUSC C T SpliceAcceptorSNV . c.3385-1G>A 2 100019264 UCEC C T Synonymous p.A1035A c.3105G>A 2 100020219 BLCA C T Synonymous p.E151E c.453G>A 2 100058829 CM C T Synonymous p.K1058K c.3174G>A 2 100019562 COREAD C T Synonymous p.K237K c.711G>A 2 100055565 HNSC C T Synonymous p.K365K c.1095G>A 2 100055181 PRAD C T Synonymous p.P216P c.648G>A 2 100055628 LUSC C T Synonymous p.R1215R c.3645G>A 2 100017815 CM C T Synonymous p.T331T c.993G>A 2 100055283 OV C T Synonymous p.T602T c.1806G>A 2 100037986 COREAD G A 5-UTRSNV . c.1-7C>T 2 100081444 ESCA G A IntronicSNV . c.1951+1339C>T 2 100033951 CLL G A Missense p.A23V c.68C>T 2 100079071 LGG G A Missense p.L732F c.2194C>T 2 100027308 HC G A Missense p.P534S c.1600C>T 2 100040690 CM G A Missense p.P62S c.184C>T 2 100065964 CM G A Missense p.R874W c.2620C>T 2 100022563 HNSC G A Missense p.S658F c.1973C>T 2 100029392 LUSC G A Missense p.T900I c.2699C>T 2 100022484 BRCA G A Missense p.T900I c.2699C>T 2 100022484 STAD G A Missense p.T904I c.2711C>T 2 100022472 CLL G A Synonymous p.I474I c.1422C>T 2 100050810 CM G A Synonymous p.L1117L c.3349C>T 2 100019387 BLCA G A Synonymous p.L1128L c.3382C>T 2 100019354 BRCA G A Synonymous p.N462N c.1386C>T 2 100050846 CM G A Synonymous p.S125S c.375C>T 2 100058907 CM G A Synonymous p.S63S c.189C>T 2 100065959 CM G A Synonymous p.T583T c.1749C>T 2 100038043 CM G C IntronicSNV . c.3541+44C>G 2 100019063 CM G C Missense p.I118M c.354C>G 2 100058928 LUAD G C Missense p.L1128V c.3382C>G 2 100019354 BRCA G C Missense p.Q997E c.2989C>G 2 100020963 LUAD G C Missense p.S63C c.188C>G 2 100065960 GBM G C Nonsense p.S504* c.1511C>G 2 100046338 BRCA GG AA Synonymous p.(=) c.2781_2782delinsTT 2 100022401 CM G T Nonsense p.S45* c.134C>A 2 100079005 LUAD T A Missense p.K442I c.1325A>T 2 100050907 LUAD T A Synonymous p.S430S c.1290A>T 2 100052327 LUAD T C Missense p.I109V c.325A>G 2 100065823 ESCA T C Missense p.I811M c.2433A>G 2 100024506 BRCA T C Missense p.N159S c.476A>G 2 100058806 CM T C Synonymous p.K599K c.1797A>G 2 100037995 UCEC T C Synonymous p.S299S c.897A>G 2 100055379 CM TCT - InFrameDeletion p.R742delR c.2224_2226delAGA 2 100027276 UCEC - T Frameshift p.M392Nfs*12 c.1174dupA 2 100055102 PRAD TGATA - Frameshift p.I811Rfs*16 c.2432_2436delTATCA 2 100024503 GBM T G Missense p.T675P c.2023A>C 2 100029342 STAD T G Synonymous p.G1004G c.3012A>C 2 100020940 CM T G Synonymous p.P1155P c.3465A>C 2 100019183 RCCC