Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 1 65858145 65858145 + Silent SNP G G A TCGA-OR-A5LL-01A-11D-A29I-10 TCGA-OR-A5LL-10A-01D-A29L-10 g.chr1:65858145G>A c.1329G>A c.(1327-1329)gaG>gaA p.E443E BLCA 1 65830332 65830332 + Missense_Mutation SNP G G T TCGA-UY-A78K-01A-11D-A339-08 TCGA-UY-A78K-10A-01D-A339-08 g.chr1:65830332G>T c.37G>T c.(37-39)Gac>Tac p.D13Y BLCA 1 65849923 65849923 + Silent SNP C C T TCGA-KQ-A41R-01A-21D-A34U-08 TCGA-KQ-A41R-10G-01D-A34X-08 g.chr1:65849923C>T c.543C>T c.(541-543)ttC>ttT p.F181F BLCA 1 65849957 65849957 + Nonsense_Mutation SNP C C T TCGA-4Z-AA7R-01A-11D-A391-08 TCGA-4Z-AA7R-10A-01D-A394-08 g.chr1:65849957C>T c.577C>T c.(577-579)Cga>Tga p.R193* BLCA 1 65849979 65849979 + Missense_Mutation SNP C C A TCGA-4Z-AA7M-01A-11D-A391-08 TCGA-4Z-AA7M-10A-01D-A394-08 g.chr1:65849979C>A c.599C>A c.(598-600)cCa>cAa p.P200Q BLCA 1 65849994 65849994 + Nonsense_Mutation SNP C C A TCGA-ZF-A9RC-01A-11D-A38G-08 TCGA-ZF-A9RC-10A-01D-A38J-08 g.chr1:65849994C>A c.614C>A c.(613-615)tCa>tAa p.S205* BLCA 1 65851450 65851450 + Missense_Mutation SNP A A G TCGA-KQ-A41O-01A-12D-A34U-08 TCGA-KQ-A41O-10D-01D-A34X-08 g.chr1:65851450A>G c.685A>G c.(685-687)Aag>Gag p.K229E BLCA 1 65854979 65854979 + Nonsense_Mutation SNP C C T TCGA-CF-A47T-01A-11D-A23U-08 TCGA-CF-A47T-10A-01D-A23U-08 g.chr1:65854979C>T c.1063C>T c.(1063-1065)Cag>Tag p.Q355* BLCA 1 65858197 65858197 + Silent SNP C C T TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 g.chr1:65858197C>T c.1381C>T c.(1381-1383)Ctg>Ttg p.L461L BLCA 1 65858480 65858480 + Missense_Mutation SNP C C T TCGA-LT-A5Z6-01A-11D-A289-08 TCGA-LT-A5Z6-10A-01D-A289-08 g.chr1:65858480C>T c.1664C>T c.(1663-1665)tCt>tTt p.S555F BLCA 1 65860683 65860683 + Missense_Mutation SNP A A G TCGA-K4-A83P-01A-11D-A34U-08 TCGA-K4-A83P-10A-01D-A34X-08 g.chr1:65860683A>G c.1835A>G c.(1834-1836)cAg>cGg p.Q612R BLCA 1 65867548 65867548 + Missense_Mutation SNP G G T TCGA-GD-A6C6-01A-21D-A31L-08 TCGA-GD-A6C6-10A-01D-A31J-08 g.chr1:65867548G>T c.2041G>T c.(2041-2043)Gac>Tac p.D681Y BLCA 1 65871611 65871611 + Silent SNP G G A TCGA-S5-A6DX-01A-11D-A31L-08 TCGA-S5-A6DX-10A-01D-A31J-08 g.chr1:65871611G>A c.2115G>A c.(2113-2115)ccG>ccA p.P705P BLCA 1 65871788 65871788 + Silent SNP C C T TCGA-CU-A72E-01A-12D-A339-08 TCGA-CU-A72E-10A-01D-A339-08 g.chr1:65871788C>T c.2292C>T c.(2290-2292)aaC>aaT p.N764N BLCA 1 65874363 65874363 + Missense_Mutation SNP C C G TCGA-G2-A2EJ-01A-11D-A17V-08 TCGA-G2-A2EJ-10A-01D-A17V-08 g.chr1:65874363C>G c.2360C>G c.(2359-2361)tCt>tGt p.S787C BLCA 1 65874363 65874363 + Missense_Mutation SNP C C G TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 g.chr1:65874363C>G c.2360C>G c.(2359-2361)tCt>tGt p.S787C BLCA 1 65874383 65874383 + Missense_Mutation SNP C C G TCGA-G2-AA3D-01A-11D-A391-08 TCGA-G2-AA3D-10A-01D-A394-08 g.chr1:65874383C>G c.2380C>G c.(2380-2382)Cac>Gac p.H794D BRCA 1 65855273 65855273 + Nonsense_Mutation SNP C C A TCGA-AN-A0FJ-01A-11W-A019-09 TCGA-AN-A0FJ-10A-01W-A021-09 g.chr1:65855273C>A c.1260C>A c.(1258-1260)taC>taA p.Y420* BRCA 1 65858515 65858515 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr1:65858515A>C c.1699A>C c.(1699-1701)Acc>Ccc p.T567P BRCA 1 65860643 65860643 + Missense_Mutation SNP T T A TCGA-A7-A0DA-01A-31D-A10Y-09 TCGA-A7-A0DA-10A-01D-A110-09 g.chr1:65860643T>A c.1795T>A c.(1795-1797)Ttt>Att p.F599I BRCA 1 65878608 65878608 + Splice_Site SNP C C G TCGA-BH-A0HP-01A-12D-A099-09 TCGA-BH-A0HP-10A-01D-A099-09 g.chr1:65878608C>G c.2642C>G c.(2641-2643)gCt>gGt p.A881G CESC 1 65831606 65831606 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 g.chr1:65831606C>A c.212C>A c.(211-213)tCc>tAc p.S71Y CESC 1 65831791 65831791 + Missense_Mutation SNP G G A TCGA-EK-A2PI-01A-11D-A18J-09 TCGA-EK-A2PI-10A-01D-A18J-09 g.chr1:65831791G>A c.284G>A c.(283-285)cGa>cAa p.R95Q CESC 1 65858183 65858183 + Nonsense_Mutation SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr1:65858183C>G c.1367C>G c.(1366-1368)tCa>tGa p.S456* CESC 1 65860665 65860665 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 g.chr1:65860665C>T c.1817C>T c.(1816-1818)tCc>tTc p.S606F CESC 1 65878639 65878639 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 g.chr1:65878639G>T c.2673G>T c.(2671-2673)aaG>aaT p.K891N CHOL 1 65855273 65855273 + Silent SNP C C T TCGA-W5-AA31-01A-11D-A417-09 TCGA-W5-AA31-10A-01D-A41A-09 g.chr1:65855273C>T c.1260C>T c.(1258-1260)taC>taT p.Y420Y COAD 1 65845171 65845171 + Silent SNP G G A TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr1:65845171G>A c.459G>A c.(457-459)ctG>ctA p.L153L COAD 1 65851461 65851461 + Silent SNP A A G TCGA-CK-5913-01A-11D-1650-10 TCGA-CK-5913-10A-01D-1650-10 g.chr1:65851461A>G c.696A>G c.(694-696)acA>acG p.T232T COAD 1 65851519 65851519 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr1:65851519C>T c.754C>T c.(754-756)Cgc>Tgc p.R252C COAD 1 65855051 65855051 + Nonsense_Mutation SNP G G T TCGA-CM-5860-01A-01D-1650-10 TCGA-CM-5860-10A-01D-1650-10 g.chr1:65855051G>T c.1135G>T c.(1135-1137)Gaa>Taa p.E379* COAD 1 65855052 65855052 + Missense_Mutation SNP A A G TCGA-CM-5862-01A-01D-1650-10 TCGA-CM-5862-10A-01D-1650-10 g.chr1:65855052A>G c.1136A>G c.(1135-1137)gAa>gGa p.E379G COAD 1 65855052 65855052 + Missense_Mutation SNP A A G TCGA-F4-6569-01A-11D-1771-10 TCGA-F4-6569-10A-01D-1771-10 g.chr1:65855052A>G c.1136A>G c.(1135-1137)gAa>gGa p.E379G COAD 1 65855053 65855053 + Silent SNP A A G TCGA-CM-6172-01A-11D-1650-10 TCGA-CM-6172-10A-01D-1650-10 g.chr1:65855053A>G c.1137A>G c.(1135-1137)gaA>gaG p.E379E COAD 1 65855252 65855252 + Silent SNP T T G TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr1:65855252T>G c.1239T>G c.(1237-1239)ccT>ccG p.P413P COAD 1 65858281 65858281 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr1:65858281G>A c.1465G>A c.(1465-1467)Gca>Aca p.A489T COAD 1 65858360 65858360 + Missense_Mutation SNP C C T TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr1:65858360C>T c.1544C>T c.(1543-1545)gCg>gTg p.A515V COAD 1 65858502 65858502 + Silent SNP C C T TCGA-CK-5916-01A-11D-1650-10 TCGA-CK-5916-10A-01D-1650-10 g.chr1:65858502C>T c.1686C>T c.(1684-1686)cgC>cgT p.R562R COAD 1 65858514 65858515 + Frame_Shift_Ins INS - - A TCGA-AA-3514-01A-02W-0831-10 TCGA-AA-3514-10A-01W-0831-10 g.chr1:65858514_65858515insA c.1698_1699insA c.(1699-1701)accfs p.T567fs COAD 1 65864497 65864497 + Splice_Site SNP T T C TCGA-AZ-6608-01A-11D-1835-10 TCGA-AZ-6608-11A-01D-1835-10 g.chr1:65864497T>C c.1869T>C c.(1867-1869)gcT>gcC p.A623A COAD 1 65871634 65871634 + Missense_Mutation SNP C C T TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr1:65871634C>T c.2138C>T c.(2137-2139)gCg>gTg p.A713V COAD 1 65874392 65874392 + Frame_Shift_Del DEL A A - TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr1:65874392delA c.2389delA c.(2389-2391)aaafs p.K798fs COAD 1 65878634 65878634 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr1:65878634G>A c.2668G>A c.(2668-2670)Gca>Aca p.A890T COADREAD 1 65845171 65845171 + Silent SNP G G A TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr1:65845171G>A c.459G>A c.(457-459)ctG>ctA p.L153L COADREAD 1 65851461 65851461 + Silent SNP A A G TCGA-CK-5913-01A-11D-1650-10 TCGA-CK-5913-10A-01D-1650-10 g.chr1:65851461A>G c.696A>G c.(694-696)acA>acG p.T232T COADREAD 1 65851519 65851519 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr1:65851519C>T c.754C>T c.(754-756)Cgc>Tgc p.R252C COADREAD 1 65855051 65855051 + Nonsense_Mutation SNP G G T TCGA-CM-5860-01A-01D-1650-10 TCGA-CM-5860-10A-01D-1650-10 g.chr1:65855051G>T c.1135G>T c.(1135-1137)Gaa>Taa p.E379* COADREAD 1 65855052 65855052 + Missense_Mutation SNP A A G TCGA-CM-5862-01A-01D-1650-10 TCGA-CM-5862-10A-01D-1650-10 g.chr1:65855052A>G c.1136A>G c.(1135-1137)gAa>gGa p.E379G COADREAD 1 65855052 65855052 + Missense_Mutation SNP A A G TCGA-F4-6569-01A-11D-1771-10 TCGA-F4-6569-10A-01D-1771-10 g.chr1:65855052A>G c.1136A>G c.(1135-1137)gAa>gGa p.E379G COADREAD 1 65855053 65855053 + Silent SNP A A G TCGA-CM-6172-01A-11D-1650-10 TCGA-CM-6172-10A-01D-1650-10 g.chr1:65855053A>G c.1137A>G c.(1135-1137)gaA>gaG p.E379E COADREAD 1 65855252 65855252 + Silent SNP T T G TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr1:65855252T>G c.1239T>G c.(1237-1239)ccT>ccG p.P413P COADREAD 1 65858281 65858281 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr1:65858281G>A c.1465G>A c.(1465-1467)Gca>Aca p.A489T COADREAD 1 65858360 65858360 + Missense_Mutation SNP C C T TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr1:65858360C>T c.1544C>T c.(1543-1545)gCg>gTg p.A515V COADREAD 1 65858502 65858502 + Silent SNP C C T TCGA-CK-5916-01A-11D-1650-10 TCGA-CK-5916-10A-01D-1650-10 g.chr1:65858502C>T c.1686C>T c.(1684-1686)cgC>cgT p.R562R COADREAD 1 65858514 65858515 + Frame_Shift_Ins INS - - A TCGA-AA-3514-01A-02W-0831-10 TCGA-AA-3514-10A-01W-0831-10 g.chr1:65858514_65858515insA c.1698_1699insA c.(1699-1701)accfs p.T567fs COADREAD 1 65864497 65864497 + Splice_Site SNP T T C TCGA-AZ-6608-01A-11D-1835-10 TCGA-AZ-6608-11A-01D-1835-10 g.chr1:65864497T>C c.1869T>C c.(1867-1869)gcT>gcC p.A623A COADREAD 1 65871634 65871634 + Missense_Mutation SNP C C T TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr1:65871634C>T c.2138C>T c.(2137-2139)gCg>gTg p.A713V COADREAD 1 65874392 65874392 + Frame_Shift_Del DEL A A - TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr1:65874392delA c.2389delA c.(2389-2391)aaafs p.K798fs COADREAD 1 65878634 65878634 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr1:65878634G>A c.2668G>A c.(2668-2670)Gca>Aca p.A890T ESCA 1 65852544 65852544 + Missense_Mutation SNP G G T TCGA-VR-A8EQ-01A-11D-A36J-09 TCGA-VR-A8EQ-10A-01D-A36M-09 g.chr1:65852544G>T c.874G>T c.(874-876)Gtg>Ttg p.V292L ESCA 1 65855049 65855049 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 g.chr1:65855049G>T c.1133G>T c.(1132-1134)tGg>tTg p.W378L ESCA 1 65871646 65871647 + Frame_Shift_Ins INS - - TA TCGA-R6-A6L6-01B-11D-A33E-09 TCGA-R6-A6L6-10A-01D-A33H-09 g.chr1:65871646_65871647insTA c.2150_2151insTA c.(2149-2154)cctatgfs p.M718fs ESCA 1 65878634 65878634 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 g.chr1:65878634G>T c.2668G>T c.(2668-2670)Gca>Tca p.A890S ESCA 1 65878666 65878666 + Silent SNP C C G TCGA-L5-A8NE-01A-11D-A37C-09 TCGA-L5-A8NE-11A-11D-A37F-09 g.chr1:65878666C>G c.2700C>G c.(2698-2700)gcC>gcG p.A900A GBM 1 65845142 65845142 + Missense_Mutation SNP G G A TCGA-16-0861-01A-01W-0424-08 TCGA-16-0861-10A-01W-0424-08 g.chr1:65845142G>A c.430G>A c.(430-432)Gtg>Atg p.V144M GBMLGG 1 65845091 65845091 + Nonsense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:65845091G>T c.379G>T c.(379-381)Gaa>Taa p.E127* GBMLGG 1 65845142 65845142 + Missense_Mutation SNP G G A TCGA-16-0861-01A-01W-0424-08 TCGA-16-0861-10A-01W-0424-08 g.chr1:65845142G>A c.430G>A c.(430-432)Gtg>Atg p.V144M GBMLGG 1 65855119 65855119 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:65855119G>A c.1203G>A c.(1201-1203)acG>acA p.T401T GBMLGG 1 65858364 65858364 + Silent SNP T T G TCGA-FG-8182-01A-11D-2253-08 TCGA-FG-8182-10A-01D-2253-08 g.chr1:65858364T>G c.1548T>G c.(1546-1548)gcT>gcG p.A516A GBMLGG 1 65871611 65871611 + Silent SNP G G A TCGA-HT-A74K-01A-11D-A32B-08 TCGA-HT-A74K-10A-01D-A329-08 g.chr1:65871611G>A c.2115G>A c.(2113-2115)ccG>ccA p.P705P HNSC 1 65845131 65845131 + Missense_Mutation SNP A A G TCGA-CV-5444-01A-02D-1512-08 TCGA-CV-5444-11A-01D-1512-08 g.chr1:65845131A>G c.419A>G c.(418-420)aAc>aGc p.N140S HNSC 1 65851492 65851492 + Missense_Mutation SNP T T C TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 g.chr1:65851492T>C c.727T>C c.(727-729)Ttt>Ctt p.F243L HNSC 1 65858191 65858191 + Nonsense_Mutation SNP G G T TCGA-CR-7368-01A-11D-2129-08 TCGA-CR-7368-10A-01D-2129-08 g.chr1:65858191G>T c.1375G>T c.(1375-1377)Gaa>Taa p.E459* HNSC 1 65858302 65858302 + Missense_Mutation SNP G G T TCGA-CV-A461-01A-41D-A25Y-08 TCGA-CV-A461-10A-01D-A25Y-08 g.chr1:65858302G>T c.1486G>T c.(1486-1488)Gat>Tat p.D496Y HNSC 1 65858360 65858360 + Missense_Mutation SNP C C T TCGA-CV-A6JT-01A-11D-A31L-08 TCGA-CV-A6JT-10A-01D-A31J-08 g.chr1:65858360C>T c.1544C>T c.(1543-1545)gCg>gTg p.A515V HNSC 1 65867547 65867547 + Silent SNP C C A TCGA-D6-8569-01A-11D-2394-08 TCGA-D6-8569-10A-01D-2394-08 g.chr1:65867547C>A c.2040C>A c.(2038-2040)gcC>gcA p.A680A KIPAN 1 65830460 65830461 + Frame_Shift_Del DEL TG TG - TCGA-IA-A83S-01A-11D-A34Z-10 TCGA-IA-A83S-11A-11D-A34Z-10 g.chr1:65830460_65830461delTG c.165_166delTG c.(163-168)tctgtgfs p.V56fs KIPAN 1 65831861 65831861 + Silent SNP T T C TCGA-B0-5706-01A-11D-1534-10 TCGA-B0-5706-11A-01D-1534-10 g.chr1:65831861T>C c.354T>C c.(352-354)acT>acC p.T118T KIRC 1 65831861 65831861 + Silent SNP T T C TCGA-B0-5706-01A-11D-1534-10 TCGA-B0-5706-11A-01D-1534-10 g.chr1:65831861T>C c.354T>C c.(352-354)acT>acC p.T118T KIRP 1 65830460 65830461 + Frame_Shift_Del DEL TG TG - TCGA-IA-A83S-01A-11D-A34Z-10 TCGA-IA-A83S-11A-11D-A34Z-10 g.chr1:65830460_65830461delTG c.165_166delTG c.(163-168)tctgtgfs p.V56fs LGG 1 65845091 65845091 + Nonsense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:65845091G>T c.379G>T c.(379-381)Gaa>Taa p.E127* LGG 1 65855119 65855119 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:65855119G>A c.1203G>A c.(1201-1203)acG>acA p.T401T LGG 1 65858364 65858364 + Silent SNP T T G TCGA-FG-8182-01A-11D-2253-08 TCGA-FG-8182-10A-01D-2253-08 g.chr1:65858364T>G c.1548T>G c.(1546-1548)gcT>gcG p.A516A LGG 1 65871611 65871611 + Silent SNP G G A TCGA-HT-A74K-01A-11D-A32B-08 TCGA-HT-A74K-10A-01D-A329-08 g.chr1:65871611G>A c.2115G>A c.(2113-2115)ccG>ccA p.P705P LIHC 1 65830467 65830467 + Splice_Site SNP A A T TCGA-2Y-A9H3-01A-11D-A382-10 TCGA-2Y-A9H3-10A-01D-A385-10 g.chr1:65830467A>T c.172A>T c.(172-174)Agc>Tgc p.S58C LIHC 1 65852603 65852603 + Silent SNP A A G TCGA-UB-A7MB-01A-11D-A33Q-10 TCGA-UB-A7MB-10A-01D-A33Q-10 g.chr1:65852603A>G c.933A>G c.(931-933)ctA>ctG p.L311L LIHC 1 65867511 65867511 + Silent SNP C C A TCGA-ES-A2HS-01A-11D-A183-10 TCGA-ES-A2HS-11A-11D-A183-10 g.chr1:65867511C>A c.2004C>A c.(2002-2004)acC>acA p.T668T LIHC 1 65874377 65874377 + Missense_Mutation SNP A A T TCGA-CC-A7IJ-01A-11D-A33Q-10 TCGA-CC-A7IJ-10A-01D-A33Q-10 g.chr1:65874377A>T c.2374A>T c.(2374-2376)Aat>Tat p.N792Y LUAD 1 65831778 65831778 + Missense_Mutation SNP G G A TCGA-05-4427-01A-21D-1855-08 TCGA-05-4427-10A-01D-1855-08 g.chr1:65831778G>A c.271G>A c.(271-273)Gtt>Att p.V91I LUAD 1 65845187 65845187 + Missense_Mutation SNP G G A TCGA-17-Z045-01A-01W-0746-08 TCGA-17-Z045-11A-01W-0747-08 g.chr1:65845187G>A c.475G>A c.(475-477)Gtc>Atc p.V159I LUAD 1 65845193 65845193 + Missense_Mutation SNP G G A TCGA-55-A493-01A-11D-A24D-08 TCGA-55-A493-10A-01D-A24F-08 g.chr1:65845193G>A c.481G>A c.(481-483)Gtt>Att p.V161I LUAD 1 65849892 65849892 + Missense_Mutation SNP C C T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 g.chr1:65849892C>T c.512C>T c.(511-513)tCa>tTa p.S171L LUAD 1 65851413 65851413 + Nonsense_Mutation SNP T T A TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 g.chr1:65851413T>A c.648T>A c.(646-648)tgT>tgA p.C216* LUAD 1 65851414 65851414 + Missense_Mutation SNP G G T TCGA-73-4676-01A-01D-1753-08 TCGA-73-4676-11A-01D-1753-08 g.chr1:65851414G>T c.649G>T c.(649-651)Gac>Tac p.D217Y LUAD 1 65851517 65851517 + Missense_Mutation SNP G G T TCGA-05-4424-01A-22D-1855-08 TCGA-05-4424-10A-01D-1855-08 g.chr1:65851517G>T c.752G>T c.(751-753)tGt>tTt p.C251F LUAD 1 65855004 65855004 + Missense_Mutation SNP T T C TCGA-80-5611-01A-01D-1625-08 TCGA-80-5611-10A-01D-1625-08 g.chr1:65855004T>C c.1088T>C c.(1087-1089)gTa>gCa p.V363A LUAD 1 65855118 65855118 + Missense_Mutation SNP C C T TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 g.chr1:65855118C>T c.1202C>T c.(1201-1203)aCg>aTg p.T401M LUAD 1 65855119 65855119 + Silent SNP G G A TCGA-05-5428-01A-01D-1625-08 TCGA-05-5428-10A-01D-1625-08 g.chr1:65855119G>A c.1203G>A c.(1201-1203)acG>acA p.T401T LUAD 1 65855124 65855124 + Missense_Mutation SNP C C T TCGA-44-A47A-01A-21D-A24D-08 TCGA-44-A47A-10A-01D-A24F-08 g.chr1:65855124C>T c.1208C>T c.(1207-1209)gCc>gTc p.A403V LUAD 1 65855253 65855253 + Missense_Mutation SNP C C T TCGA-86-8672-01A-21D-2393-08 TCGA-86-8672-10A-01D-2393-08 g.chr1:65855253C>T c.1240C>T c.(1240-1242)Cca>Tca p.P414S LUAD 1 65855292 65855292 + Missense_Mutation SNP G G T TCGA-99-8028-01A-11D-2238-08 TCGA-99-8028-10A-01D-2238-08 g.chr1:65855292G>T c.1279G>T c.(1279-1281)Gcc>Tcc p.A427S LUAD 1 65858334 65858334 + Silent SNP A A C TCGA-55-8092-01A-11D-2238-08 TCGA-55-8092-10A-01D-2238-08 g.chr1:65858334A>C c.1518A>C c.(1516-1518)gcA>gcC p.A506A LUAD 1 65858405 65858405 + Missense_Mutation SNP G G T TCGA-95-7039-01A-11D-1945-08 TCGA-95-7039-10A-01D-1946-08 g.chr1:65858405G>T c.1589G>T c.(1588-1590)gGt>gTt p.G530V LUAD 1 65858466 65858466 + Silent SNP T T A TCGA-78-8662-01A-11D-2393-08 TCGA-78-8662-10A-01D-2393-08 g.chr1:65858466T>A c.1650T>A c.(1648-1650)ccT>ccA p.P550P LUAD 1 65858468 65858468 + Missense_Mutation SNP G G T TCGA-78-8662-01A-11D-2393-08 TCGA-78-8662-10A-01D-2393-08 g.chr1:65858468G>T c.1652G>T c.(1651-1653)aGt>aTt p.S551I LUAD 1 65860637 65860637 + Missense_Mutation SNP G G T TCGA-69-7978-01A-11D-2184-08 TCGA-69-7978-10A-01D-2184-08 g.chr1:65860637G>T c.1789G>T c.(1789-1791)Ggt>Tgt p.G597C LUAD 1 65860662 65860662 + Missense_Mutation SNP C C T TCGA-17-Z059-01A-01W-0747-08 TCGA-17-Z059-11A-01W-0747-08 g.chr1:65860662C>T c.1814C>T c.(1813-1815)gCt>gTt p.A605V LUAD 1 65864515 65864515 + Silent SNP G G A TCGA-75-5126-01A-01D-1753-08 TCGA-75-5126-10A-01D-1753-08 g.chr1:65864515G>A c.1887G>A c.(1885-1887)gtG>gtA p.V629V LUAD 1 65874376 65874376 + Silent SNP C C T TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 g.chr1:65874376C>T c.2373C>T c.(2371-2373)ttC>ttT p.F791F LUAD 1 65874408 65874408 + Missense_Mutation SNP C C G TCGA-44-8120-01A-11D-2238-08 TCGA-44-8120-10A-01D-2238-08 g.chr1:65874408C>G c.2405C>G c.(2404-2406)aCa>aGa p.T802R LUAD 1 65874456 65874456 + Missense_Mutation SNP A A T TCGA-17-Z022-01A-01W-0746-08 TCGA-17-Z022-11A-01W-0746-08 g.chr1:65874456A>T c.2453A>T c.(2452-2454)gAg>gTg p.E818V LUAD 1 65878623 65878623 + Missense_Mutation SNP A A G TCGA-50-5066-01A-01D-1625-08 TCGA-50-5066-10A-01D-1625-08 g.chr1:65878623A>G c.2657A>G c.(2656-2658)tAt>tGt p.Y886C LUSC 1 65845103 65845103 + Missense_Mutation SNP C C T TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 g.chr1:65845103C>T c.391C>T c.(391-393)Ccc>Tcc p.P131S LUSC 1 65851519 65851519 + Missense_Mutation SNP C C A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 g.chr1:65851519C>A c.754C>A c.(754-756)Cgc>Agc p.R252S LUSC 1 65852522 65852522 + Missense_Mutation SNP C C G TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 g.chr1:65852522C>G c.852C>G c.(850-852)atC>atG p.I284M LUSC 1 65854059 65854059 + Missense_Mutation SNP G G T TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 g.chr1:65854059G>T c.983G>T c.(982-984)gGa>gTa p.G328V LUSC 1 65855081 65855081 + Missense_Mutation SNP A A G TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 g.chr1:65855081A>G c.1165A>G c.(1165-1167)Agc>Ggc p.S389G LUSC 1 65855118 65855118 + Missense_Mutation SNP C C T TCGA-51-4079-01A-01D-1458-08 TCGA-51-4079-11A-01D-1458-08 g.chr1:65855118C>T c.1202C>T c.(1201-1203)aCg>aTg p.T401M LUSC 1 65855271 65855271 + Missense_Mutation SNP T T C TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 g.chr1:65855271T>C c.1258T>C c.(1258-1260)Tac>Cac p.Y420H LUSC 1 65858250 65858250 + Silent SNP C C G TCGA-22-1016-01A-01D-1521-08 TCGA-22-1016-11A-01D-1521-08 g.chr1:65858250C>G c.1434C>G c.(1432-1434)gtC>gtG p.V478V OV 1 65830389 65830389 + Missense_Mutation SNP A A G TCGA-29-1764-01A-01W-0633-09 TCGA-29-1764-10A-01W-0634-09 g.chr1:65830389A>G c.94A>G c.(94-96)Agg>Ggg p.R32G OV 1 65855051 65855051 + Nonsense_Mutation SNP G G T TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 g.chr1:65855051G>T c.1135G>T c.(1135-1137)Gaa>Taa p.E379* OV 1 65867548 65867548 + Missense_Mutation SNP G G A TCGA-29-1699-01A-01W-0633-09 TCGA-29-1699-10A-01W-0633-09 g.chr1:65867548G>A c.2041G>A c.(2041-2043)Gac>Aac p.D681N OV 1 65871792 65871792 + Missense_Mutation SNP C C T TCGA-29-1703-01A-01W-0633-09 TCGA-29-1703-10A-01W-0633-09 g.chr1:65871792C>T c.2296C>T c.(2296-2298)Cgt>Tgt p.R766C OV 1 65874342 65874342 + Missense_Mutation SNP C C A TCGA-29-1774-01A-01W-0639-09 TCGA-29-1774-10A-01W-0639-09 g.chr1:65874342C>A c.2339C>A c.(2338-2340)gCt>gAt p.A780D PAAD 1 65845149 65845149 + Missense_Mutation SNP G G A TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 g.chr1:65845149G>A c.437G>A c.(436-438)cGg>cAg p.R146Q PAAD 1 65855014 65855014 + Silent SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:65855014G>A c.1098G>A c.(1096-1098)caG>caA p.Q366Q PAAD 1 65855062 65855062 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:65855062C>T c.1146C>T c.(1144-1146)tgC>tgT p.C382C SARC 1 65871755 65871755 + Silent SNP C C T TCGA-DX-A8BX-01A-11D-A37C-09 TCGA-DX-A8BX-10A-01D-A37F-09 g.chr1:65871755C>T c.2259C>T c.(2257-2259)aaC>aaT p.N753N SKCM 1 65831742 65831742 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 g.chr1:65831742C>T c.235C>T c.(235-237)Cct>Tct p.P79S SKCM 1 65845150 65845150 + Silent SNP G G A TCGA-FS-A1ZA-06A-11D-A197-08 TCGA-FS-A1ZA-10A-01D-A199-08 g.chr1:65845150G>A c.438G>A c.(436-438)cgG>cgA p.R146R SKCM 1 65849957 65849957 + Nonsense_Mutation SNP C C T TCGA-EE-A2MU-06A-21D-A196-08 TCGA-EE-A2MU-10A-01D-A198-08 g.chr1:65849957C>T c.577C>T c.(577-579)Cga>Tga p.R193* SKCM 1 65851393 65851393 + Splice_Site SNP A A C TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr1:65851393A>C c.e7-1 SKCM 1 65852574 65852574 + Missense_Mutation SNP C C T TCGA-DA-A3F8-06A-11D-A20D-08 TCGA-DA-A3F8-10A-01D-A20D-08 g.chr1:65852574C>T c.904C>T c.(904-906)Cac>Tac p.H302Y SKCM 1 65858423 65858423 + Missense_Mutation SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr1:65858423C>T c.1607C>T c.(1606-1608)cCc>cTc p.P536L SKCM 1 65858517 65858517 + Silent SNP C C T TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 g.chr1:65858517C>T c.1701C>T c.(1699-1701)acC>acT p.T567T SKCM 1 65860679 65860679 + Missense_Mutation SNP C C T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 g.chr1:65860679C>T c.1831C>T c.(1831-1833)Ctc>Ttc p.L611F SKCM 1 65860698 65860698 + Missense_Mutation SNP C C T TCGA-D3-A1Q6-06A-11D-A196-08 TCGA-D3-A1Q6-10A-01D-A198-08 g.chr1:65860698C>T c.1850C>T c.(1849-1851)cCt>cTt p.P617L SKCM 1 65871733 65871733 + Missense_Mutation SNP C C T TCGA-EE-A2GM-06B-11D-A196-08 TCGA-EE-A2GM-10A-01D-A198-08 g.chr1:65871733C>T c.2237C>T c.(2236-2238)cCc>cTc p.P746L SKCM 1 65874423 65874423 + Missense_Mutation SNP G G A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 g.chr1:65874423G>A c.2420G>A c.(2419-2421)aGa>aAa p.R807K SKCM 1 65878698 65878698 + Missense_Mutation SNP C C T TCGA-EE-A3AE-06A-11D-A196-08 TCGA-EE-A3AE-10A-01D-A198-08 g.chr1:65878698C>T c.2732C>T c.(2731-2733)cCc>cTc p.P911L

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 1 65874363 65874363 single base substitution C G missense_variant S774C 2321C>G BLCA-US 1 65874363 65874363 single base substitution C G missense_variant S787C 2360C>G BLCA-US 1 65874363 65874363 single base substitution C G missense_variant S844C 2531C>G BRCA-EU 1 65709806 65709806 single base substitution G T upstream_gene_variant BRCA-EU 1 65710375 65710375 single base substitution T C upstream_gene_variant BRCA-EU 1 65710848 65710848 single base substitution C G upstream_gene_variant BRCA-EU 1 65711161 65711161 single base substitution G C upstream_gene_variant BRCA-EU 1 65712010 65712010 single base substitution A G upstream_gene_variant BRCA-EU 1 65713965 65713965 single base substitution C T exon_variant BRCA-EU 1 65714765 65714765 single base substitution C T intron_variant BRCA-EU 1 65715932 65715932 single base substitution A T intron_variant BRCA-EU 1 65715932 65715932 single base substitution A T upstream_gene_variant BRCA-EU 1 65716230 65716230 single base substitution C A intron_variant BRCA-EU 1 65716230 65716230 single base substitution C A upstream_gene_variant BRCA-EU 1 65717148 65717148 single base substitution C T intron_variant BRCA-EU 1 65717148 65717148 single base substitution C T upstream_gene_variant BRCA-EU 1 65720046 65720046 single base substitution G A intron_variant BRCA-EU 1 65720046 65720046 single base substitution G A upstream_gene_variant BRCA-EU 1 65721134 65721134 single base substitution G T intron_variant BRCA-EU 1 65722353 65722353 single base substitution G A intron_variant BRCA-EU 1 65723166 65723166 single base substitution G T intron_variant BRCA-EU 1 65724576 65724576 single base substitution T G intron_variant BRCA-EU 1 65725545 65725545 single base substitution T G intron_variant BRCA-EU 1 65725545 65725545 single base substitution T G upstream_gene_variant BRCA-EU 1 65727053 65727053 single base substitution C T intron_variant BRCA-EU 1 65727053 65727053 single base substitution C T upstream_gene_variant BRCA-EU 1 65727440 65727440 single base substitution G C intron_variant BRCA-EU 1 65727440 65727440 single base substitution G C upstream_gene_variant BRCA-EU 1 65730566 65730566 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 1 65730566 65730566 single base substitution C G exon_variant BRCA-EU 1 65730566 65730566 single base substitution C G intron_variant BRCA-EU 1 65730589 65730589 single base substitution A G 5_prime_UTR_variant BRCA-EU 1 65730589 65730589 single base substitution A G exon_variant BRCA-EU 1 65730589 65730589 single base substitution A G intron_variant BRCA-EU 1 65730893 65730893 single base substitution C G intron_variant BRCA-EU 1 65731838 65731838 single base substitution C T intron_variant BRCA-EU 1 65731920 65731920 single base substitution G A intron_variant BRCA-EU 1 65732552 65732552 single base substitution C T intron_variant BRCA-EU 1 65733638 65733638 single base substitution C T intron_variant BRCA-EU 1 65735326 65735326 single base substitution G T intron_variant BRCA-EU 1 65736572 65736572 single base substitution G T intron_variant BRCA-EU 1 65737616 65737616 single base substitution T G intron_variant BRCA-EU 1 65739264 65739264 single base substitution G A intron_variant BRCA-EU 1 65739775 65739775 single base substitution C G intron_variant BRCA-EU 1 65740473 65740473 single base substitution T A intron_variant BRCA-EU 1 65741948 65741948 single base substitution T G intron_variant BRCA-EU 1 65742882 65742882 single base substitution G A intron_variant BRCA-EU 1 65744147 65744147 single base substitution G A intron_variant BRCA-EU 1 65746067 65746067 single base substitution A C intron_variant BRCA-EU 1 65746668 65746668 single base substitution G A intron_variant BRCA-EU 1 65746735 65746735 single base substitution C T intron_variant BRCA-EU 1 65746775 65746775 single base substitution A G intron_variant BRCA-EU 1 65746808 65746808 single base substitution C T intron_variant BRCA-EU 1 65747725 65747725 single base substitution C T intron_variant BRCA-EU 1 65747988 65747988 single base substitution G A intron_variant BRCA-EU 1 65748017 65748017 single base substitution T C intron_variant BRCA-EU 1 65748827 65748827 single base substitution T A intron_variant BRCA-EU 1 65749868 65749868 single base substitution C T intron_variant BRCA-EU 1 65750002 65750002 single base substitution C G intron_variant BRCA-EU 1 65751465 65751465 single base substitution C T intron_variant BRCA-EU 1 65751546 65751546 single base substitution G T intron_variant BRCA-EU 1 65751585 65751585 single base substitution C T intron_variant BRCA-EU 1 65752625 65752625 single base substitution C G intron_variant BRCA-EU 1 65753103 65753103 deletion of <=200bp A - intron_variant BRCA-EU 1 65754446 65754446 single base substitution G C intron_variant BRCA-EU 1 65754638 65754638 single base substitution G A intron_variant BRCA-EU 1 65756029 65756029 single base substitution G A intron_variant BRCA-EU 1 65756523 65756523 single base substitution G C intron_variant BRCA-EU 1 65757368 65757368 single base substitution G T intron_variant BRCA-EU 1 65757429 65757429 single base substitution G C intron_variant BRCA-EU 1 65758257 65758257 single base substitution G A intron_variant BRCA-EU 1 65758902 65758902 single base substitution T A intron_variant BRCA-EU 1 65760074 65760074 single base substitution G T intron_variant BRCA-EU 1 65760075 65760075 single base substitution A G intron_variant BRCA-EU 1 65760092 65760092 deletion of <=200bp A - intron_variant BRCA-EU 1 65760570 65760570 insertion of <=200bp - A intron_variant BRCA-EU 1 65760999 65760999 single base substitution C A intron_variant BRCA-EU 1 65761662 65761662 single base substitution C G intron_variant BRCA-EU 1 65763582 65763582 single base substitution C G intron_variant BRCA-EU 1 65764880 65764880 single base substitution C G intron_variant BRCA-EU 1 65765039 65765039 single base substitution A T intron_variant BRCA-EU 1 65765525 65765525 single base substitution G C intron_variant BRCA-EU 1 65765922 65765922 single base substitution G A intron_variant BRCA-EU 1 65766063 65766063 single base substitution T C intron_variant BRCA-EU 1 65766250 65766250 single base substitution G A intron_variant BRCA-EU 1 65766394 65766394 single base substitution A G intron_variant BRCA-EU 1 65768253 65768253 single base substitution C G intron_variant BRCA-EU 1 65768509 65768509 single base substitution C T intron_variant BRCA-EU 1 65769886 65769886 single base substitution A G intron_variant BRCA-EU 1 65771973 65771973 single base substitution G A intron_variant BRCA-EU 1 65771973 65771973 single base substitution G A upstream_gene_variant BRCA-EU 1 65773093 65773093 insertion of <=200bp - A intron_variant BRCA-EU 1 65773093 65773093 insertion of <=200bp - A upstream_gene_variant BRCA-EU 1 65773705 65773705 single base substitution C G intron_variant BRCA-EU 1 65773705 65773705 single base substitution C G upstream_gene_variant BRCA-EU 1 65774375 65774375 deletion of <=200bp A - intron_variant BRCA-EU 1 65774375 65774375 deletion of <=200bp A - upstream_gene_variant BRCA-EU 1 65775261 65775261 single base substitution G A 5_prime_UTR_variant BRCA-EU 1 65775261 65775261 single base substitution G A intron_variant BRCA-EU 1 65775979 65775979 single base substitution G C intron_variant BRCA-EU 1 65777630 65777630 single base substitution C T intron_variant BRCA-EU 1 65778310 65778310 single base substitution T A intron_variant BRCA-EU 1 65779148 65779148 single base substitution C T intron_variant BRCA-EU 1 65782128 65782128 single base substitution C G intron_variant BRCA-EU 1 65784978 65784978 single base substitution C T intron_variant BRCA-EU 1 65785540 65785540 single base substitution C G intron_variant BRCA-EU 1 65786460 65786460 single base substitution C A intron_variant BRCA-EU 1 65786556 65786556 single base substitution G C intron_variant BRCA-EU 1 65786932 65786932 single base substitution G T intron_variant BRCA-EU 1 65786935 65786935 single base substitution A T intron_variant BRCA-EU 1 65787919 65787919 single base substitution T G intron_variant BRCA-EU 1 65789074 65789074 single base substitution C G intron_variant BRCA-EU 1 65789809 65789809 single base substitution C G intron_variant BRCA-EU 1 65790548 65790548 single base substitution A C intron_variant BRCA-EU 1 65790978 65790978 single base substitution A T intron_variant BRCA-EU 1 65791526 65791526 single base substitution C G intron_variant BRCA-EU 1 65792172 65792172 single base substitution C A intron_variant BRCA-EU 1 65793094 65793094 single base substitution C A intron_variant BRCA-EU 1 65793165 65793165 deletion of <=200bp T - intron_variant BRCA-EU 1 65793748 65793748 single base substitution T C intron_variant BRCA-EU 1 65794324 65794324 single base substitution A G intron_variant BRCA-EU 1 65795141 65795141 single base substitution A T intron_variant BRCA-EU 1 65795195 65795195 single base substitution A C intron_variant BRCA-EU 1 65795661 65795661 single base substitution A C intron_variant BRCA-EU 1 65795860 65795860 single base substitution C G intron_variant BRCA-EU 1 65796033 65796033 single base substitution T A intron_variant BRCA-EU 1 65796442 65796442 single base substitution G A intron_variant BRCA-EU 1 65796687 65796687 single base substitution C G intron_variant BRCA-EU 1 65798745 65798745 single base substitution G A intron_variant BRCA-EU 1 65799002 65799002 single base substitution C T intron_variant BRCA-EU 1 65799137 65799137 single base substitution C A intron_variant BRCA-EU 1 65799749 65799752 deletion of <=200bp TTAA - intron_variant BRCA-EU 1 65800066 65800066 single base substitution G C intron_variant BRCA-EU 1 65800213 65800213 single base substitution C G intron_variant BRCA-EU 1 65800262 65800262 single base substitution C T intron_variant BRCA-EU 1 65801293 65801293 single base substitution C T intron_variant BRCA-EU 1 65802181 65802181 single base substitution G A intron_variant BRCA-EU 1 65802356 65802356 single base substitution C T intron_variant BRCA-EU 1 65804665 65804665 single base substitution C A intron_variant BRCA-EU 1 65805023 65805023 single base substitution C T intron_variant BRCA-EU 1 65805345 65805345 single base substitution G A intron_variant BRCA-EU 1 65805384 65805384 single base substitution G A intron_variant BRCA-EU 1 65805749 65805749 single base substitution C A intron_variant BRCA-EU 1 65807164 65807164 single base substitution G C intron_variant BRCA-EU 1 65808050 65808050 single base substitution C T intron_variant BRCA-EU 1 65808210 65808210 single base substitution A C intron_variant BRCA-EU 1 65810581 65810581 single base substitution G A intron_variant BRCA-EU 1 65813975 65813975 single base substitution T C intron_variant BRCA-EU 1 65813979 65813979 single base substitution T A intron_variant BRCA-EU 1 65814101 65814101 single base substitution G T intron_variant BRCA-EU 1 65814182 65814182 single base substitution T C intron_variant BRCA-EU 1 65815246 65815246 deletion of <=200bp T - intron_variant BRCA-EU 1 65815299 65815299 deletion of <=200bp A - intron_variant BRCA-EU 1 65816373 65816373 single base substitution C A intron_variant BRCA-EU 1 65817944 65817944 single base substitution C T intron_variant BRCA-EU 1 65818180 65818180 single base substitution C T intron_variant BRCA-EU 1 65819109 65819109 single base substitution A G intron_variant BRCA-EU 1 65819644 65819644 single base substitution C A intron_variant BRCA-EU 1 65819670 65819670 single base substitution C G intron_variant BRCA-EU 1 65820187 65820187 single base substitution T C intron_variant BRCA-EU 1 65820331 65820331 single base substitution A T intron_variant BRCA-EU 1 65820543 65820543 insertion of <=200bp - T intron_variant BRCA-EU 1 65821603 65821603 single base substitution G C intron_variant BRCA-EU 1 65821717 65821717 single base substitution T C intron_variant BRCA-EU 1 65823126 65823126 single base substitution G A intron_variant BRCA-EU 1 65825027 65825027 single base substitution C G intron_variant BRCA-EU 1 65825490 65825490 single base substitution G A intron_variant BRCA-EU 1 65825855 65825855 single base substitution T C intron_variant BRCA-EU 1 65829694 65829694 single base substitution G A intron_variant BRCA-EU 1 65829694 65829694 single base substitution G A upstream_gene_variant BRCA-EU 1 65829766 65829766 single base substitution C G intron_variant BRCA-EU 1 65829766 65829766 single base substitution C G upstream_gene_variant BRCA-EU 1 65830015 65830015 single base substitution A G intron_variant BRCA-EU 1 65830015 65830015 single base substitution A G upstream_gene_variant BRCA-EU 1 65830301 65830301 single base substitution T G intron_variant BRCA-EU 1 65830301 65830301 single base substitution T G upstream_gene_variant BRCA-EU 1 65830791 65830791 insertion of <=200bp - T downstream_gene_variant BRCA-EU 1 65830791 65830791 insertion of <=200bp - T intron_variant BRCA-EU 1 65830791 65830791 insertion of <=200bp - T upstream_gene_variant BRCA-EU 1 65831963 65831963 single base substitution C G downstream_gene_variant BRCA-EU 1 65831963 65831963 single base substitution C G intron_variant BRCA-EU 1 65832452 65832452 deletion of <=200bp T - downstream_gene_variant BRCA-EU 1 65832452 65832452 deletion of <=200bp T - intron_variant BRCA-EU 1 65834158 65834158 single base substitution T C downstream_gene_variant BRCA-EU 1 65834158 65834158 single base substitution T C intron_variant BRCA-EU 1 65834655 65834655 single base substitution C A downstream_gene_variant BRCA-EU 1 65834655 65834655 single base substitution C A intron_variant BRCA-EU 1 65835556 65835556 single base substitution C G downstream_gene_variant BRCA-EU 1 65835556 65835556 single base substitution C G intron_variant BRCA-EU 1 65836661 65836661 single base substitution C T downstream_gene_variant BRCA-EU 1 65836661 65836661 single base substitution C T intron_variant BRCA-EU 1 65837281 65837281 single base substitution C A intron_variant BRCA-EU 1 65837947 65837947 deletion of <=200bp A - intron_variant BRCA-EU 1 65838509 65838509 single base substitution G T intron_variant BRCA-EU 1 65838822 65838822 single base substitution T C intron_variant BRCA-EU 1 65839957 65839957 single base substitution G T intron_variant BRCA-EU 1 65843814 65843814 single base substitution C T intron_variant BRCA-EU 1 65844550 65844550 deletion of <=200bp A - intron_variant BRCA-EU 1 65845115 65845115 single base substitution G T exon_variant BRCA-EU 1 65845115 65845115 single base substitution G T missense_variant A122S 364G>T BRCA-EU 1 65845115 65845115 single base substitution G T missense_variant A135S 403G>T BRCA-EU 1 65845115 65845115 single base substitution G T missense_variant A166S 496G>T BRCA-EU 1 65845115 65845115 single base substitution G T missense_variant A192S 574G>T BRCA-EU 1 65845115 65845115 single base substitution G T upstream_gene_variant BRCA-EU 1 65848207 65848207 single base substitution C A downstream_gene_variant BRCA-EU 1 65848207 65848207 single base substitution C A intron_variant BRCA-EU 1 65848207 65848207 single base substitution C A upstream_gene_variant BRCA-EU 1 65848543 65848543 single base substitution G T downstream_gene_variant BRCA-EU 1 65848543 65848543 single base substitution G T intron_variant BRCA-EU 1 65848543 65848543 single base substitution G T upstream_gene_variant BRCA-EU 1 65850019 65850019 single base substitution G C downstream_gene_variant BRCA-EU 1 65850019 65850019 single base substitution G C intron_variant BRCA-EU 1 65851686 65851686 single base substitution C T intron_variant BRCA-EU 1 65851778 65851778 single base substitution C G intron_variant BRCA-EU 1 65852519 65852519 single base substitution A T exon_variant BRCA-EU 1 65852519 65852519 single base substitution A T missense_variant K270N 810A>T BRCA-EU 1 65852519 65852519 single base substitution A T missense_variant K283N 849A>T BRCA-EU 1 65852519 65852519 single base substitution A T missense_variant K314N 942A>T BRCA-EU 1 65852519 65852519 single base substitution A T missense_variant K340N 1020A>T BRCA-EU 1 65855170 65855170 single base substitution G T downstream_gene_variant BRCA-EU 1 65855170 65855170 single base substitution G T intron_variant BRCA-EU 1 65856972 65856972 single base substitution C A downstream_gene_variant BRCA-EU 1 65856972 65856972 single base substitution C A intron_variant BRCA-EU 1 65857206 65857206 deletion of <=200bp T - downstream_gene_variant BRCA-EU 1 65857206 65857206 deletion of <=200bp T - intron_variant BRCA-EU 1 65857207 65857207 single base substitution T C downstream_gene_variant BRCA-EU 1 65857207 65857207 single base substitution T C intron_variant BRCA-EU 1 65857626 65857626 single base substitution A C downstream_gene_variant BRCA-EU 1 65857626 65857626 single base substitution A C intron_variant BRCA-EU 1 65857705 65857705 single base substitution T C downstream_gene_variant BRCA-EU 1 65857705 65857705 single base substitution T C intron_variant BRCA-EU 1 65858360 65858360 single base substitution C T downstream_gene_variant BRCA-EU 1 65858360 65858360 single base substitution C T missense_variant A502V 1505C>T BRCA-EU 1 65858360 65858360 single base substitution C T missense_variant A515V 1544C>T BRCA-EU 1 65858360 65858360 single base substitution C T missense_variant A572V 1715C>T BRCA-EU 1 65858537 65858537 single base substitution G C downstream_gene_variant BRCA-EU 1 65858537 65858537 single base substitution G C missense_variant R561T 1682G>C BRCA-EU 1 65858537 65858537 single base substitution G C missense_variant R574T 1721G>C BRCA-EU 1 65858537 65858537 single base substitution G C missense_variant R631T 1892G>C BRCA-EU 1 65859476 65859476 single base substitution C A downstream_gene_variant BRCA-EU 1 65859476 65859476 single base substitution C A intron_variant BRCA-EU 1 65860016 65860016 single base substitution C T downstream_gene_variant BRCA-EU 1 65860016 65860016 single base substitution C T intron_variant BRCA-EU 1 65860480 65860480 single base substitution T G downstream_gene_variant BRCA-EU 1 65860480 65860480 single base substitution T G intron_variant BRCA-EU 1 65861258 65861258 single base substitution A G downstream_gene_variant BRCA-EU 1 65861258 65861258 single base substitution A G intron_variant BRCA-EU 1 65862193 65862193 single base substitution T G downstream_gene_variant BRCA-EU 1 65862193 65862193 single base substitution T G intron_variant BRCA-EU 1 65862757 65862757 single base substitution C T downstream_gene_variant BRCA-EU 1 65862757 65862757 single base substitution C T intron_variant BRCA-EU 1 65865572 65865572 single base substitution A T intron_variant BRCA-EU 1 65867389 65867389 single base substitution C G intron_variant BRCA-EU 1 65868260 65868260 single base substitution C T intron_variant BRCA-EU 1 65870002 65870002 single base substitution A T intron_variant BRCA-EU 1 65871865 65871865 single base substitution G A intron_variant BRCA-EU 1 65872594 65872594 single base substitution C T intron_variant BRCA-EU 1 65872939 65872939 deletion of <=200bp A - intron_variant BRCA-EU 1 65877392 65877392 single base substitution C T intron_variant BRCA-EU 1 65877537 65877537 single base substitution T G intron_variant BRCA-EU 1 65877949 65877949 single base substitution C G intron_variant BRCA-EU 1 65884290 65884290 single base substitution G A downstream_gene_variant BRCA-EU 1 65885255 65885255 single base substitution T A downstream_gene_variant BRCA-EU 1 65885884 65885884 single base substitution C A downstream_gene_variant BRCA-FR 1 65710848 65710848 single base substitution C G upstream_gene_variant BRCA-FR 1 65715880 65715880 single base substitution T G intron_variant BRCA-FR 1 65715880 65715880 single base substitution T G upstream_gene_variant BRCA-FR 1 65717148 65717148 single base substitution C T intron_variant BRCA-FR 1 65717148 65717148 single base substitution C T upstream_gene_variant BRCA-FR 1 65730566 65730566 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant BRCA-FR 1 65730566 65730566 single base substitution C G exon_variant BRCA-FR 1 65730566 65730566 single base substitution C G intron_variant BRCA-FR 1 65732552 65732552 single base substitution C T intron_variant BRCA-FR 1 65746735 65746735 single base substitution C T intron_variant BRCA-FR 1 65748827 65748827 single base substitution T A intron_variant BRCA-FR 1 65751585 65751585 single base substitution C T intron_variant BRCA-FR 1 65754446 65754446 single base substitution G C intron_variant BRCA-FR 1 65754638 65754638 single base substitution G A intron_variant BRCA-FR 1 65756523 65756523 single base substitution G C intron_variant BRCA-FR 1 65765190 65765190 single base substitution G T intron_variant BRCA-FR 1 65765852 65765852 single base substitution A C intron_variant BRCA-FR 1 65785540 65785540 single base substitution C G intron_variant BRCA-FR 1 65795661 65795661 single base substitution A C intron_variant BRCA-FR 1 65799680 65799680 single base substitution A T intron_variant BRCA-FR 1 65800213 65800213 single base substitution C G intron_variant BRCA-FR 1 65805187 65805187 single base substitution C A intron_variant BRCA-FR 1 65805209 65805209 single base substitution C A intron_variant BRCA-FR 1 65820331 65820331 single base substitution A T intron_variant BRCA-FR 1 65825027 65825027 single base substitution C G intron_variant BRCA-FR 1 65827535 65827535 single base substitution C T intron_variant BRCA-FR 1 65827535 65827535 single base substitution C T upstream_gene_variant BRCA-FR 1 65828701 65828701 single base substitution A C intron_variant BRCA-FR 1 65828701 65828701 single base substitution A C upstream_gene_variant BRCA-FR 1 65836661 65836661 single base substitution C T downstream_gene_variant BRCA-FR 1 65836661 65836661 single base substitution C T intron_variant BRCA-FR 1 65838509 65838509 single base substitution G T intron_variant BRCA-FR 1 65843814 65843814 single base substitution C T intron_variant BRCA-FR 1 65852803 65852803 single base substitution T G intron_variant BRCA-FR 1 65856961 65856961 single base substitution C G downstream_gene_variant BRCA-FR 1 65856961 65856961 single base substitution C G intron_variant BRCA-FR 1 65856972 65856972 single base substitution C A downstream_gene_variant BRCA-FR 1 65856972 65856972 single base substitution C A intron_variant BRCA-FR 1 65872594 65872594 single base substitution C T intron_variant BRCA-FR 1 65877392 65877392 single base substitution C T intron_variant BRCA-FR 1 65877949 65877949 single base substitution C G intron_variant BRCA-UK 1 65732558 65732558 single base substitution C G intron_variant BRCA-UK 1 65737616 65737616 single base substitution T G intron_variant BRCA-UK 1 65746668 65746668 single base substitution G A intron_variant BRCA-UK 1 65752625 65752625 single base substitution C G intron_variant BRCA-UK 1 65757368 65757368 single base substitution G T intron_variant BRCA-UK 1 65790978 65790978 single base substitution A T intron_variant BRCA-UK 1 65816373 65816373 single base substitution C A intron_variant BRCA-UK 1 65830459 65830459 single base substitution C G downstream_gene_variant BRCA-UK 1 65830459 65830459 single base substitution C G exon_variant BRCA-UK 1 65830459 65830459 single base substitution C G missense_variant S112C 335C>G BRCA-UK 1 65830459 65830459 single base substitution C G missense_variant S42C 125C>G BRCA-UK 1 65830459 65830459 single base substitution C G missense_variant S55C 164C>G BRCA-UK 1 65830459 65830459 single base substitution C G missense_variant S86C 257C>G BRCA-UK 1 65830459 65830459 single base substitution C G upstream_gene_variant BRCA-UK 1 65855170 65855170 single base substitution G T downstream_gene_variant BRCA-UK 1 65855170 65855170 single base substitution G T intron_variant BRCA-UK 1 65862757 65862757 single base substitution C T downstream_gene_variant BRCA-UK 1 65862757 65862757 single base substitution C T intron_variant BRCA-UK 1 65874332 65874332 single base substitution C T stop_gained Q764* 2290C>T BRCA-UK 1 65874332 65874332 single base substitution C T stop_gained Q777* 2329C>T BRCA-UK 1 65874332 65874332 single base substitution C T stop_gained Q834* 2500C>T BRCA-US 1 65855273 65855273 single base substitution C A downstream_gene_variant BRCA-US 1 65855273 65855273 single base substitution C A stop_gained Y407* 1221C>A BRCA-US 1 65855273 65855273 single base substitution C A stop_gained Y420* 1260C>A BRCA-US 1 65855273 65855273 single base substitution C A stop_gained Y451* 1353C>A BRCA-US 1 65855273 65855273 single base substitution C A stop_gained Y477* 1431C>A BRCA-US 1 65858515 65858515 single base substitution A C downstream_gene_variant BRCA-US 1 65858515 65858515 single base substitution A C missense_variant T554P 1660A>C BRCA-US 1 65858515 65858515 single base substitution A C missense_variant T567P 1699A>C BRCA-US 1 65858515 65858515 single base substitution A C missense_variant T624P 1870A>C BRCA-US 1 65860643 65860643 single base substitution T A downstream_gene_variant BRCA-US 1 65860643 65860643 single base substitution T A missense_variant F586I 1756T>A BRCA-US 1 65860643 65860643 single base substitution T A missense_variant F599I 1795T>A BRCA-US 1 65860643 65860643 single base substitution T A missense_variant F656I 1966T>A BRCA-US 1 65878608 65878608 single base substitution C G missense_variant A868G 2603C>G BRCA-US 1 65878608 65878608 single base substitution C G missense_variant A881G 2642C>G BRCA-US 1 65878608 65878608 single base substitution C G missense_variant A938G 2813C>G BTCA-JP 1 65720473 65720473 single base substitution C T intron_variant BTCA-JP 1 65854183 65854183 single base substitution C G downstream_gene_variant BTCA-JP 1 65854183 65854183 single base substitution C G intron_variant BTCA-JP 1 65855434 65855434 single base substitution G A downstream_gene_variant BTCA-JP 1 65855434 65855434 single base substitution G A intron_variant BTCA-JP 1 65860570 65860570 single base substitution T C downstream_gene_variant BTCA-JP 1 65860570 65860570 single base substitution T C intron_variant BTCA-JP 1 65871792 65871792 single base substitution C T missense_variant R753C 2257C>T BTCA-JP 1 65871792 65871792 single base substitution C T missense_variant R766C 2296C>T BTCA-JP 1 65871792 65871792 single base substitution C T missense_variant R823C 2467C>T BTCA-JP 1 65874347 65874347 single base substitution T A missense_variant F769I 2305T>A BTCA-JP 1 65874347 65874347 single base substitution T A missense_variant F782I 2344T>A BTCA-JP 1 65874347 65874347 single base substitution T A missense_variant F839I 2515T>A BTCA-JP 1 65874484 65874484 single base substitution C T intron_variant CESC-US 1 65775468 65775468 single base substitution G T intron_variant CESC-US 1 65775468 65775468 single base substitution G T missense_variant D14Y 40G>T CESC-US 1 65831606 65831606 single base substitution C A downstream_gene_variant CESC-US 1 65831606 65831606 single base substitution C A exon_variant CESC-US 1 65831606 65831606 single base substitution C A missense_variant S102Y 305C>A CESC-US 1 65831606 65831606 single base substitution C A missense_variant S128Y 383C>A CESC-US 1 65831606 65831606 single base substitution C A missense_variant S58Y 173C>A CESC-US 1 65831606 65831606 single base substitution C A missense_variant S71Y 212C>A CESC-US 1 65831606 65831606 single base substitution C A upstream_gene_variant CESC-US 1 65831791 65831791 single base substitution G A downstream_gene_variant CESC-US 1 65831791 65831791 single base substitution G A exon_variant CESC-US 1 65831791 65831791 single base substitution G A missense_variant R126Q 377G>A CESC-US 1 65831791 65831791 single base substitution G A missense_variant R152Q 455G>A CESC-US 1 65831791 65831791 single base substitution G A missense_variant R82Q 245G>A CESC-US 1 65831791 65831791 single base substitution G A missense_variant R95Q 284G>A CESC-US 1 65858183 65858183 single base substitution C G downstream_gene_variant CESC-US 1 65858183 65858183 single base substitution C G stop_gained S443* 1328C>G CESC-US 1 65858183 65858183 single base substitution C G stop_gained S456* 1367C>G CESC-US 1 65858183 65858183 single base substitution C G stop_gained S487* 1460C>G CESC-US 1 65858183 65858183 single base substitution C G stop_gained S513* 1538C>G CESC-US 1 65860665 65860665 single base substitution C T downstream_gene_variant CESC-US 1 65860665 65860665 single base substitution C T missense_variant S593F 1778C>T CESC-US 1 65860665 65860665 single base substitution C T missense_variant S606F 1817C>T CESC-US 1 65860665 65860665 single base substitution C T missense_variant S663F 1988C>T CESC-US 1 65878639 65878639 single base substitution G T missense_variant K878N 2634G>T CESC-US 1 65878639 65878639 single base substitution G T missense_variant K891N 2673G>T CESC-US 1 65878639 65878639 single base substitution G T missense_variant K948N 2844G>T CLLE-ES 1 65716126 65716126 single base substitution C A intron_variant CLLE-ES 1 65716126 65716126 single base substitution C A upstream_gene_variant CLLE-ES 1 65738854 65738854 single base substitution T C intron_variant CLLE-ES 1 65752372 65752372 single base substitution A T intron_variant CLLE-ES 1 65758145 65758145 single base substitution G T intron_variant CLLE-ES 1 65768620 65768620 single base substitution C A intron_variant CLLE-ES 1 65797995 65797995 single base substitution C T intron_variant CLLE-ES 1 65799002 65799002 single base substitution C T intron_variant CLLE-ES 1 65809435 65809435 single base substitution G A intron_variant CLLE-ES 1 65817593 65817593 single base substitution G A intron_variant CLLE-ES 1 65817912 65817912 single base substitution T C intron_variant CLLE-ES 1 65828080 65828080 single base substitution T A intron_variant CLLE-ES 1 65828080 65828080 single base substitution T A upstream_gene_variant CLLE-ES 1 65857343 65857343 single base substitution C T downstream_gene_variant CLLE-ES 1 65857343 65857343 single base substitution C T intron_variant CLLE-ES 1 65863330 65863330 single base substitution G A intron_variant CLLE-ES 1 65880425 65880425 single base substitution T A 3_prime_UTR_variant CLLE-ES 1 65880425 65880425 single base substitution T A downstream_gene_variant COAD-US 1 65845171 65845171 single base substitution G A exon_variant COAD-US 1 65845171 65845171 single base substitution G A synonymous_variant L140L 420G>A COAD-US 1 65845171 65845171 single base substitution G A synonymous_variant L153L 459G>A COAD-US 1 65845171 65845171 single base substitution G A synonymous_variant L184L 552G>A COAD-US 1 65845171 65845171 single base substitution G A synonymous_variant L210L 630G>A COAD-US 1 65845171 65845171 single base substitution G A upstream_gene_variant COAD-US 1 65851461 65851461 single base substitution A G exon_variant COAD-US 1 65851461 65851461 single base substitution A G synonymous_variant T219T 657A>G COAD-US 1 65851461 65851461 single base substitution A G synonymous_variant T232T 696A>G COAD-US 1 65851461 65851461 single base substitution A G synonymous_variant T263T 789A>G COAD-US 1 65851461 65851461 single base substitution A G synonymous_variant T289T 867A>G COAD-US 1 65851519 65851519 single base substitution C T exon_variant COAD-US 1 65851519 65851519 single base substitution C T missense_variant R239C 715C>T COAD-US 1 65851519 65851519 single base substitution C T missense_variant R252C 754C>T COAD-US 1 65851519 65851519 single base substitution C T missense_variant R283C 847C>T COAD-US 1 65851519 65851519 single base substitution C T missense_variant R309C 925C>T COAD-US 1 65855252 65855252 single base substitution T G downstream_gene_variant COAD-US 1 65855252 65855252 single base substitution T G synonymous_variant P400P 1200T>G COAD-US 1 65855252 65855252 single base substitution T G synonymous_variant P413P 1239T>G COAD-US 1 65855252 65855252 single base substitution T G synonymous_variant P444P 1332T>G COAD-US 1 65855252 65855252 single base substitution T G synonymous_variant P470P 1410T>G COAD-US 1 65858145 65858145 single base substitution G A downstream_gene_variant COAD-US 1 65858145 65858145 single base substitution G A synonymous_variant E430E 1290G>A COAD-US 1 65858145 65858145 single base substitution G A synonymous_variant E443E 1329G>A COAD-US 1 65858145 65858145 single base substitution G A synonymous_variant E474E 1422G>A COAD-US 1 65858145 65858145 single base substitution G A synonymous_variant E500E 1500G>A COAD-US 1 65858360 65858360 single base substitution C T downstream_gene_variant COAD-US 1 65858360 65858360 single base substitution C T missense_variant A502V 1505C>T COAD-US 1 65858360 65858360 single base substitution C T missense_variant A515V 1544C>T COAD-US 1 65858360 65858360 single base substitution C T missense_variant A572V 1715C>T COAD-US 1 65858502 65858502 single base substitution C T downstream_gene_variant COAD-US 1 65858502 65858502 single base substitution C T synonymous_variant R549R 1647C>T COAD-US 1 65858502 65858502 single base substitution C T synonymous_variant R562R 1686C>T COAD-US 1 65858502 65858502 single base substitution C T synonymous_variant R619R 1857C>T COAD-US 1 65871620 65871620 single base substitution C A missense_variant S695R 2085C>A COAD-US 1 65871620 65871620 single base substitution C A missense_variant S708R 2124C>A COAD-US 1 65871620 65871620 single base substitution C A missense_variant S765R 2295C>A COAD-US 1 65871634 65871634 single base substitution C T missense_variant A700V 2099C>T COAD-US 1 65871634 65871634 single base substitution C T missense_variant A713V 2138C>T COAD-US 1 65871634 65871634 single base substitution C T missense_variant A770V 2309C>T COAD-US 1 65874392 65874392 deletion of <=200bp A - frameshift_variant K784 COAD-US 1 65874392 65874392 deletion of <=200bp A - frameshift_variant K797 COAD-US 1 65874392 65874392 deletion of <=200bp A - frameshift_variant K854 COAD-US 1 65878634 65878634 single base substitution G A missense_variant A877T 2629G>A COAD-US 1 65878634 65878634 single base substitution G A missense_variant A890T 2668G>A COAD-US 1 65878634 65878634 single base substitution G A missense_variant A947T 2839G>A COCA-CN 1 65730601 65730601 single base substitution A C 5_prime_UTR_variant COCA-CN 1 65730601 65730601 single base substitution A C exon_variant COCA-CN 1 65730601 65730601 single base substitution A C intron_variant COCA-CN 1 65730601 65730601 single base substitution A C missense_variant D3A 8A>C COCA-CN 1 65775391 65775391 single base substitution C T 5_prime_UTR_variant COCA-CN 1 65775391 65775391 single base substitution C T intron_variant COCA-CN 1 65830287 65830289 deletion of <=200bp TTG - intron_variant COCA-CN 1 65830287 65830289 deletion of <=200bp TTG - upstream_gene_variant COCA-CN 1 65830355 65830355 single base substitution A G exon_variant COCA-CN 1 65830355 65830355 single base substitution A G synonymous_variant G20G 60A>G COCA-CN 1 65830355 65830355 single base substitution A G synonymous_variant G51G 153A>G COCA-CN 1 65830355 65830355 single base substitution A G synonymous_variant G77G 231A>G COCA-CN 1 65830355 65830355 single base substitution A G synonymous_variant G7G 21A>G COCA-CN 1 65830355 65830355 single base substitution A G upstream_gene_variant COCA-CN 1 65831482 65831482 single base substitution A C downstream_gene_variant COCA-CN 1 65831482 65831482 single base substitution A C intron_variant COCA-CN 1 65831482 65831482 single base substitution A C upstream_gene_variant COCA-CN 1 65831545 65831545 single base substitution G A downstream_gene_variant COCA-CN 1 65831545 65831545 single base substitution G A intron_variant COCA-CN 1 65831545 65831545 single base substitution G A upstream_gene_variant COCA-CN 1 65831621 65831621 single base substitution A C downstream_gene_variant COCA-CN 1 65831621 65831621 single base substitution A C splice_region_variant COCA-CN 1 65831621 65831621 single base substitution A C upstream_gene_variant COCA-CN 1 65834271 65834271 single base substitution T C downstream_gene_variant COCA-CN 1 65834271 65834271 single base substitution T C intron_variant COCA-CN 1 65834400 65834400 single base substitution C T downstream_gene_variant COCA-CN 1 65834400 65834400 single base substitution C T intron_variant COCA-CN 1 65834404 65834404 single base substitution T C downstream_gene_variant COCA-CN 1 65834404 65834404 single base substitution T C intron_variant COCA-CN 1 65845042 65845042 single base substitution A T intron_variant COCA-CN 1 65845042 65845042 single base substitution A T upstream_gene_variant COCA-CN 1 65851611 65851611 single base substitution C T intron_variant COCA-CN 1 65852421 65852421 single base substitution G T intron_variant COCA-CN 1 65852720 65852720 single base substitution G T intron_variant COCA-CN 1 65854033 65854033 single base substitution G T exon_variant COCA-CN 1 65854033 65854033 single base substitution G T missense_variant Q306H 918G>T COCA-CN 1 65854033 65854033 single base substitution G T missense_variant Q319H 957G>T COCA-CN 1 65854033 65854033 single base substitution G T missense_variant Q350H 1050G>T COCA-CN 1 65854033 65854033 single base substitution G T missense_variant Q376H 1128G>T COCA-CN 1 65855368 65855368 single base substitution A C downstream_gene_variant COCA-CN 1 65855368 65855368 single base substitution A C intron_variant COCA-CN 1 65858523 65858523 single base substitution G A downstream_gene_variant COCA-CN 1 65858523 65858523 single base substitution G A synonymous_variant A556A 1668G>A COCA-CN 1 65858523 65858523 single base substitution G A synonymous_variant A569A 1707G>A COCA-CN 1 65858523 65858523 single base substitution G A synonymous_variant A626A 1878G>A COCA-CN 1 65867578 65867578 single base substitution G T intron_variant COCA-CN 1 65871690 65871690 single base substitution C T stop_gained Q719* 2155C>T COCA-CN 1 65871690 65871690 single base substitution C T stop_gained Q732* 2194C>T COCA-CN 1 65871690 65871690 single base substitution C T stop_gained Q789* 2365C>T COCA-CN 1 65871818 65871818 single base substitution T C splice_donor_variant COCA-CN 1 65871836 65871836 single base substitution A C intron_variant EOPC-DE 1 65749611 65749611 single base substitution A G intron_variant EOPC-DE 1 65813889 65813889 single base substitution C T intron_variant EOPC-DE 1 65823411 65823411 single base substitution G A intron_variant EOPC-DE 1 65885871 65885871 single base substitution A G downstream_gene_variant ESAD-UK 1 65710351 65710351 single base substitution T C upstream_gene_variant ESAD-UK 1 65711673 65711673 single base substitution C T upstream_gene_variant ESAD-UK 1 65712001 65712001 single base substitution C A upstream_gene_variant ESAD-UK 1 65713681 65713681 single base substitution C T upstream_gene_variant ESAD-UK 1 65713715 65713715 single base substitution T G upstream_gene_variant ESAD-UK 1 65714055 65714055 single base substitution T C intron_variant ESAD-UK 1 65714203 65714203 single base substitution G T intron_variant ESAD-UK 1 65714513 65714513 single base substitution G C intron_variant ESAD-UK 1 65720290 65720290 single base substitution C A intron_variant ESAD-UK 1 65720290 65720290 single base substitution C A synonymous_variant R25R 73C>A ESAD-UK 1 65722045 65722045 single base substitution C T intron_variant ESAD-UK 1 65722079 65722079 single base substitution C T intron_variant ESAD-UK 1 65722223 65722223 single base substitution C T intron_variant ESAD-UK 1 65723307 65723307 single base substitution A G intron_variant ESAD-UK 1 65724620 65724620 single base substitution G A intron_variant ESAD-UK 1 65725273 65725300 deletion of <=200bp CCCACAATCTTTGGGTCTGTGGCTCTGG - intron_variant ESAD-UK 1 65725600 65725600 single base substitution C T intron_variant ESAD-UK 1 65725600 65725600 single base substitution C T upstream_gene_variant ESAD-UK 1 65728191 65728191 single base substitution C A intron_variant ESAD-UK 1 65728191 65728191 single base substitution C A upstream_gene_variant ESAD-UK 1 65730224 65730224 single base substitution G C intron_variant ESAD-UK 1 65730224 65730224 single base substitution G C upstream_gene_variant ESAD-UK 1 65731507 65731507 single base substitution G A intron_variant ESAD-UK 1 65731544 65731544 single base substitution G A intron_variant ESAD-UK 1 65734522 65734522 single base substitution C A intron_variant ESAD-UK 1 65737039 65737039 single base substitution T G intron_variant ESAD-UK 1 65737103 65737103 single base substitution C T intron_variant ESAD-UK 1 65737277 65737277 single base substitution C T intron_variant ESAD-UK 1 65737318 65737318 single base substitution G T intron_variant ESAD-UK 1 65739437 65739437 single base substitution T G intron_variant ESAD-UK 1 65740004 65740004 single base substitution T G intron_variant ESAD-UK 1 65740508 65740508 single base substitution T G intron_variant ESAD-UK 1 65740721 65740721 single base substitution T G intron_variant ESAD-UK 1 65741762 65741762 single base substitution G A intron_variant ESAD-UK 1 65741867 65741867 single base substitution T C intron_variant ESAD-UK 1 65744185 65744185 single base substitution A C intron_variant ESAD-UK 1 65744908 65744908 single base substitution G A intron_variant ESAD-UK 1 65745578 65745578 single base substitution A C intron_variant ESAD-UK 1 65746829 65746829 single base substitution C T intron_variant ESAD-UK 1 65747937 65747937 single base substitution A T intron_variant ESAD-UK 1 65748158 65748158 single base substitution C T intron_variant ESAD-UK 1 65749165 65749165 single base substitution A C intron_variant ESAD-UK 1 65749455 65749455 single base substitution T C intron_variant ESAD-UK 1 65750235 65750235 single base substitution T C intron_variant ESAD-UK 1 65750567 65750567 single base substitution C T intron_variant ESAD-UK 1 65751250 65751250 insertion of <=200bp - C intron_variant ESAD-UK 1 65751336 65751336 single base substitution C T intron_variant ESAD-UK 1 65753031 65753031 single base substitution A C intron_variant ESAD-UK 1 65753061 65753061 single base substitution T G intron_variant ESAD-UK 1 65754991 65754991 single base substitution G A intron_variant ESAD-UK 1 65755393 65755393 single base substitution G A intron_variant ESAD-UK 1 65755711 65755711 single base substitution T G intron_variant ESAD-UK 1 65756634 65756634 single base substitution T G intron_variant ESAD-UK 1 65757468 65757468 single base substitution T C intron_variant ESAD-UK 1 65757576 65757576 single base substitution C T intron_variant ESAD-UK 1 65758536 65758536 single base substitution G T intron_variant ESAD-UK 1 65759309 65759309 single base substitution C A intron_variant ESAD-UK 1 65761223 65761223 single base substitution T G intron_variant ESAD-UK 1 65761285 65761285 single base substitution C G intron_variant ESAD-UK 1 65761461 65761461 single base substitution A C intron_variant ESAD-UK 1 65761960 65761960 single base substitution G T intron_variant ESAD-UK 1 65762350 65762350 single base substitution A G intron_variant ESAD-UK 1 65762418 65762418 single base substitution C T intron_variant ESAD-UK 1 65762489 65762489 single base substitution T C intron_variant ESAD-UK 1 65763240 65763240 single base substitution G T intron_variant ESAD-UK 1 65763344 65763344 single base substitution G T intron_variant ESAD-UK 1 65763973 65763973 single base substitution A G intron_variant ESAD-UK 1 65764168 65764168 single base substitution T G intron_variant ESAD-UK 1 65764404 65764404 single base substitution C G intron_variant ESAD-UK 1 65765460 65765460 single base substitution C T intron_variant ESAD-UK 1 65765540 65765540 single base substitution C G intron_variant ESAD-UK 1 65766500 65766500 single base substitution A C intron_variant ESAD-UK 1 65766569 65766569 single base substitution A C intron_variant ESAD-UK 1 65767008 65767008 insertion of <=200bp - C intron_variant ESAD-UK 1 65769446 65769446 single base substitution C T intron_variant ESAD-UK 1 65771780 65771780 single base substitution A C intron_variant ESAD-UK 1 65771780 65771780 single base substitution A C upstream_gene_variant ESAD-UK 1 65772229 65772229 single base substitution T C intron_variant ESAD-UK 1 65772229 65772229 single base substitution T C upstream_gene_variant ESAD-UK 1 65772452 65772452 single base substitution C A intron_variant ESAD-UK 1 65772452 65772452 single base substitution C A upstream_gene_variant ESAD-UK 1 65773120 65773120 single base substitution T G intron_variant ESAD-UK 1 65773120 65773120 single base substitution T G upstream_gene_variant ESAD-UK 1 65774087 65774087 single base substitution T G intron_variant ESAD-UK 1 65774087 65774087 single base substitution T G upstream_gene_variant ESAD-UK 1 65774377 65774377 single base substitution A C intron_variant ESAD-UK 1 65774377 65774377 single base substitution A C upstream_gene_variant ESAD-UK 1 65777214 65777214 single base substitution T G intron_variant ESAD-UK 1 65778353 65778353 single base substitution G C intron_variant ESAD-UK 1 65779144 65779144 single base substitution T G intron_variant ESAD-UK 1 65779620 65779620 single base substitution T G intron_variant ESAD-UK 1 65780367 65780367 single base substitution C A intron_variant ESAD-UK 1 65781982 65781982 single base substitution T G intron_variant ESAD-UK 1 65782142 65782142 single base substitution T G intron_variant ESAD-UK 1 65783933 65783933 single base substitution A G intron_variant ESAD-UK 1 65785153 65785153 single base substitution T C intron_variant ESAD-UK 1 65786353 65786353 single base substitution C T intron_variant ESAD-UK 1 65787003 65787003 single base substitution C A intron_variant ESAD-UK 1 65787004 65787004 single base substitution T A intron_variant ESAD-UK 1 65788798 65788798 single base substitution A C intron_variant ESAD-UK 1 65789706 65789706 single base substitution A C intron_variant ESAD-UK 1 65791414 65791414 single base substitution C T intron_variant ESAD-UK 1 65791852 65791852 single base substitution G A intron_variant ESAD-UK 1 65792584 65792584 single base substitution A C intron_variant ESAD-UK 1 65793567 65793567 deletion of <=200bp T - intron_variant ESAD-UK 1 65794768 65794768 single base substitution T C intron_variant ESAD-UK 1 65794892 65794892 single base substitution T A intron_variant ESAD-UK 1 65796213 65796213 single base substitution C T intron_variant ESAD-UK 1 65796707 65796707 single base substitution T G intron_variant ESAD-UK 1 65796945 65796945 single base substitution A C intron_variant ESAD-UK 1 65797791 65797791 single base substitution T C intron_variant ESAD-UK 1 65798898 65798898 single base substitution T G intron_variant ESAD-UK 1 65798988 65798988 single base substitution C T intron_variant ESAD-UK 1 65800011 65800011 single base substitution T G intron_variant ESAD-UK 1 65802706 65802706 insertion of <=200bp - A intron_variant ESAD-UK 1 65803485 65803485 single base substitution T C intron_variant ESAD-UK 1 65804161 65804161 single base substitution G T intron_variant ESAD-UK 1 65805247 65805247 single base substitution G A intron_variant ESAD-UK 1 65807048 65807048 single base substitution T A intron_variant ESAD-UK 1 65807092 65807092 single base substitution G A intron_variant ESAD-UK 1 65808196 65808196 single base substitution T C intron_variant ESAD-UK 1 65809312 65809312 single base substitution T G intron_variant ESAD-UK 1 65810418 65810418 single base substitution T A intron_variant ESAD-UK 1 65811329 65811329 single base substitution A C 5_prime_UTR_variant ESAD-UK 1 65811329 65811329 single base substitution A C exon_variant ESAD-UK 1 65811329 65811329 single base substitution A C intron_variant ESAD-UK 1 65811803 65811803 single base substitution T C intron_variant ESAD-UK 1 65812612 65812613 deletion of <=200bp CA - intron_variant ESAD-UK 1 65812965 65812965 single base substitution T G intron_variant ESAD-UK 1 65813471 65813471 single base substitution A T intron_variant ESAD-UK 1 65813619 65813619 single base substitution T C intron_variant ESAD-UK 1 65815823 65815823 single base substitution G A intron_variant ESAD-UK 1 65817451 65817451 single base substitution T A intron_variant ESAD-UK 1 65817454 65817454 single base substitution T A intron_variant ESAD-UK 1 65817616 65817616 single base substitution T G intron_variant ESAD-UK 1 65817791 65817791 single base substitution G T intron_variant ESAD-UK 1 65817792 65817792 single base substitution T G intron_variant ESAD-UK 1 65818811 65818811 single base substitution T C intron_variant ESAD-UK 1 65818963 65818963 single base substitution C T intron_variant ESAD-UK 1 65821944 65821944 single base substitution T C intron_variant ESAD-UK 1 65822469 65822469 single base substitution G T intron_variant ESAD-UK 1 65822687 65822687 single base substitution G A intron_variant ESAD-UK 1 65822723 65822723 single base substitution G T intron_variant ESAD-UK 1 65822897 65822897 single base substitution T C intron_variant ESAD-UK 1 65823132 65823132 single base substitution G A intron_variant ESAD-UK 1 65824523 65824523 single base substitution A C intron_variant ESAD-UK 1 65825228 65825228 single base substitution T G intron_variant ESAD-UK 1 65825948 65825948 single base substitution G T intron_variant ESAD-UK 1 65826456 65826456 single base substitution T G intron_variant ESAD-UK 1 65826916 65826916 single base substitution C T intron_variant ESAD-UK 1 65826916 65826916 single base substitution C T upstream_gene_variant ESAD-UK 1 65828943 65828943 single base substitution T G intron_variant ESAD-UK 1 65828943 65828943 single base substitution T G upstream_gene_variant ESAD-UK 1 65829949 65829949 single base substitution A T intron_variant ESAD-UK 1 65829949 65829949 single base substitution A T upstream_gene_variant ESAD-UK 1 65830619 65830619 single base substitution A T downstream_gene_variant ESAD-UK 1 65830619 65830619 single base substitution A T intron_variant ESAD-UK 1 65830619 65830619 single base substitution A T upstream_gene_variant ESAD-UK 1 65832452 65832452 deletion of <=200bp T - downstream_gene_variant ESAD-UK 1 65832452 65832452 deletion of <=200bp T - intron_variant ESAD-UK 1 65835847 65835847 single base substitution C T downstream_gene_variant ESAD-UK 1 65835847 65835847 single base substitution C T intron_variant ESAD-UK 1 65838149 65838149 single base substitution A C intron_variant ESAD-UK 1 65839460 65839460 single base substitution T G intron_variant ESAD-UK 1 65839535 65839535 single base substitution T G intron_variant ESAD-UK 1 65839890 65839890 single base substitution G A intron_variant ESAD-UK 1 65839978 65839978 single base substitution G T intron_variant ESAD-UK 1 65840112 65840112 deletion of <=200bp T - intron_variant ESAD-UK 1 65840867 65840867 single base substitution C A intron_variant ESAD-UK 1 65840994 65840994 deletion of <=200bp T - intron_variant ESAD-UK 1 65842024 65842024 single base substitution C G intron_variant ESAD-UK 1 65844859 65844859 single base substitution C A intron_variant ESAD-UK 1 65844859 65844859 single base substitution C A upstream_gene_variant ESAD-UK 1 65846085 65846085 single base substitution T G downstream_gene_variant ESAD-UK 1 65846085 65846085 single base substitution T G intron_variant ESAD-UK 1 65846085 65846085 single base substitution T G upstream_gene_variant ESAD-UK 1 65847707 65847707 single base substitution G C downstream_gene_variant ESAD-UK 1 65847707 65847707 single base substitution G C intron_variant ESAD-UK 1 65847707 65847707 single base substitution G C upstream_gene_variant ESAD-UK 1 65847953 65847953 single base substitution T G downstream_gene_variant ESAD-UK 1 65847953 65847953 single base substitution T G intron_variant ESAD-UK 1 65847953 65847953 single base substitution T G upstream_gene_variant ESAD-UK 1 65848316 65848316 single base substitution A T downstream_gene_variant ESAD-UK 1 65848316 65848316 single base substitution A T intron_variant ESAD-UK 1 65848316 65848316 single base substitution A T upstream_gene_variant ESAD-UK 1 65850163 65850163 single base substitution G A downstream_gene_variant ESAD-UK 1 65850163 65850163 single base substitution G A intron_variant ESAD-UK 1 65850427 65850427 single base substitution A G downstream_gene_variant ESAD-UK 1 65850427 65850427 single base substitution A G intron_variant ESAD-UK 1 65850616 65850616 single base substitution C A intron_variant ESAD-UK 1 65852025 65852025 single base substitution A C intron_variant ESAD-UK 1 65852369 65852369 single base substitution T C intron_variant ESAD-UK 1 65853716 65853716 single base substitution A C intron_variant ESAD-UK 1 65853930 65853930 single base substitution G C intron_variant ESAD-UK 1 65855702 65855702 single base substitution A T downstream_gene_variant ESAD-UK 1 65855702 65855702 single base substitution A T intron_variant ESAD-UK 1 65856131 65856131 single base substitution T G downstream_gene_variant ESAD-UK 1 65856131 65856131 single base substitution T G intron_variant ESAD-UK 1 65856588 65856588 single base substitution C T downstream_gene_variant ESAD-UK 1 65856588 65856588 single base substitution C T intron_variant ESAD-UK 1 65856744 65856744 single base substitution T G downstream_gene_variant ESAD-UK 1 65856744 65856744 single base substitution T G intron_variant ESAD-UK 1 65856896 65856896 single base substitution A C downstream_gene_variant ESAD-UK 1 65856896 65856896 single base substitution A C intron_variant ESAD-UK 1 65857586 65857586 single base substitution G A downstream_gene_variant ESAD-UK 1 65857586 65857586 single base substitution G A intron_variant ESAD-UK 1 65859212 65859212 single base substitution A T downstream_gene_variant ESAD-UK 1 65859212 65859212 single base substitution A T intron_variant ESAD-UK 1 65859913 65859913 single base substitution C T downstream_gene_variant ESAD-UK 1 65859913 65859913 single base substitution C T intron_variant ESAD-UK 1 65860078 65860078 single base substitution C T downstream_gene_variant ESAD-UK 1 65860078 65860078 single base substitution C T intron_variant ESAD-UK 1 65862195 65862195 single base substitution C G downstream_gene_variant ESAD-UK 1 65862195 65862195 single base substitution C G intron_variant ESAD-UK 1 65862203 65862203 single base substitution T G downstream_gene_variant ESAD-UK 1 65862203 65862203 single base substitution T G intron_variant ESAD-UK 1 65862568 65862568 single base substitution T G downstream_gene_variant ESAD-UK 1 65862568 65862568 single base substitution T G intron_variant ESAD-UK 1 65864505 65864505 single base substitution C T missense_variant T613M 1838C>T ESAD-UK 1 65864505 65864505 single base substitution C T missense_variant T626M 1877C>T ESAD-UK 1 65864505 65864505 single base substitution C T missense_variant T683M 2048C>T ESAD-UK 1 65865136 65865136 single base substitution G A intron_variant ESAD-UK 1 65866906 65866906 single base substitution G C intron_variant ESAD-UK 1 65869768 65869768 single base substitution A C intron_variant ESAD-UK 1 65872318 65872318 single base substitution T G intron_variant ESAD-UK 1 65872825 65872825 single base substitution G A intron_variant ESAD-UK 1 65873458 65873458 single base substitution C T intron_variant ESAD-UK 1 65873834 65873834 single base substitution C T intron_variant ESAD-UK 1 65876582 65876582 single base substitution A C intron_variant ESAD-UK 1 65880226 65880226 single base substitution C T 3_prime_UTR_variant ESAD-UK 1 65880226 65880226 single base substitution C T downstream_gene_variant ESAD-UK 1 65880959 65880959 single base substitution A T 3_prime_UTR_variant ESAD-UK 1 65880959 65880959 single base substitution A T downstream_gene_variant ESAD-UK 1 65881115 65881115 single base substitution G A 3_prime_UTR_variant ESAD-UK 1 65881115 65881115 single base substitution G A downstream_gene_variant ESAD-UK 1 65881183 65881183 single base substitution G T 3_prime_UTR_variant ESAD-UK 1 65881183 65881183 single base substitution G T downstream_gene_variant ESAD-UK 1 65882800 65882800 single base substitution A G downstream_gene_variant ESAD-UK 1 65883476 65883476 single base substitution C T downstream_gene_variant ESAD-UK 1 65884064 65884064 single base substitution G A downstream_gene_variant ESAD-UK 1 65886432 65886432 single base substitution C G downstream_gene_variant ESCA-CN 1 65867460 65867460 single base substitution A G synonymous_variant G638G 1914A>G ESCA-CN 1 65867460 65867460 single base substitution A G synonymous_variant G651G 1953A>G ESCA-CN 1 65867460 65867460 single base substitution A G synonymous_variant G708G 2124A>G ESCA-CN 1 65874561 65874561 single base substitution T C intron_variant GBM-US 1 65845142 65845142 single base substitution G A exon_variant GBM-US 1 65845142 65845142 single base substitution G A missense_variant V131M 391G>A GBM-US 1 65845142 65845142 single base substitution G A missense_variant V144M 430G>A GBM-US 1 65845142 65845142 single base substitution G A missense_variant V175M 523G>A GBM-US 1 65845142 65845142 single base substitution G A missense_variant V201M 601G>A GBM-US 1 65845142 65845142 single base substitution G A upstream_gene_variant GBM-US 1 65852503 65852503 single base substitution G A exon_variant GBM-US 1 65852503 65852503 single base substitution G A missense_variant R265H 794G>A GBM-US 1 65852503 65852503 single base substitution G A missense_variant R278H 833G>A GBM-US 1 65852503 65852503 single base substitution G A missense_variant R309H 926G>A GBM-US 1 65852503 65852503 single base substitution G A missense_variant R335H 1004G>A KIRC-US 1 65831861 65831861 single base substitution T C downstream_gene_variant KIRC-US 1 65831861 65831861 single base substitution T C exon_variant KIRC-US 1 65831861 65831861 single base substitution T C synonymous_variant T105T 315T>C KIRC-US 1 65831861 65831861 single base substitution T C synonymous_variant T118T 354T>C KIRC-US 1 65831861 65831861 single base substitution T C synonymous_variant T149T 447T>C KIRC-US 1 65831861 65831861 single base substitution T C synonymous_variant T175T 525T>C KIRP-US 1 65775557 65775557 single base substitution C T intron_variant KIRP-US 1 65775557 65775557 single base substitution C T synonymous_variant A43A 129C>T LAML-KR 1 65775325 65775325 single base substitution A C 5_prime_UTR_variant LAML-KR 1 65775325 65775325 single base substitution A C intron_variant LAML-KR 1 65830297 65830297 single base substitution G T intron_variant LAML-KR 1 65830297 65830297 single base substitution G T upstream_gene_variant LAML-KR 1 65830299 65830299 single base substitution T G intron_variant LAML-KR 1 65830299 65830299 single base substitution T G upstream_gene_variant LAML-KR 1 65832044 65832044 single base substitution T C downstream_gene_variant LAML-KR 1 65832044 65832044 single base substitution T C intron_variant LAML-KR 1 65833581 65833581 single base substitution C A downstream_gene_variant LAML-KR 1 65833581 65833581 single base substitution C A intron_variant LAML-KR 1 65858088 65858088 single base substitution T C downstream_gene_variant LAML-KR 1 65858088 65858088 single base substitution T C intron_variant LAML-KR 1 65867715 65867715 single base substitution C T intron_variant LGG-US 1 65858364 65858364 single base substitution T G downstream_gene_variant LGG-US 1 65858364 65858364 single base substitution T G synonymous_variant A503A 1509T>G LGG-US 1 65858364 65858364 single base substitution T G synonymous_variant A516A 1548T>G LGG-US 1 65858364 65858364 single base substitution T G synonymous_variant A573A 1719T>G LICA-CN 1 65876973 65876973 single base substitution C A missense_variant A822D 2465C>A LICA-CN 1 65876973 65876973 single base substitution C A missense_variant A835D 2504C>A LICA-CN 1 65876973 65876973 single base substitution C A missense_variant A892D 2675C>A LICA-FR 1 65724994 65724994 single base substitution T C intron_variant LICA-FR 1 65733569 65733574 deletion of <=200bp GTGTGT - intron_variant LICA-FR 1 65777351 65777351 single base substitution A G intron_variant LICA-FR 1 65800981 65800981 single base substitution G T intron_variant LICA-FR 1 65803931 65803931 single base substitution A G intron_variant LICA-FR 1 65837830 65837835 deletion of <=200bp GTGTGT - intron_variant LICA-FR 1 65851490 65851490 single base substitution C T exon_variant LICA-FR 1 65851490 65851490 single base substitution C T missense_variant P229L 686C>T LICA-FR 1 65851490 65851490 single base substitution C T missense_variant P242L 725C>T LICA-FR 1 65851490 65851490 single base substitution C T missense_variant P273L 818C>T LICA-FR 1 65851490 65851490 single base substitution C T missense_variant P299L 896C>T LICA-FR 1 65860616 65860616 single base substitution C T downstream_gene_variant LICA-FR 1 65860616 65860616 single base substitution C T missense_variant P577S 1729C>T LICA-FR 1 65860616 65860616 single base substitution C T missense_variant P590S 1768C>T LICA-FR 1 65860616 65860616 single base substitution C T missense_variant P647S 1939C>T LICA-FR 1 65882021 65882021 single base substitution C G downstream_gene_variant LIHC-US 1 65775451 65775451 single base substitution G A intron_variant LIHC-US 1 65775451 65775451 single base substitution G A missense_variant R8Q 23G>A LIHC-US 1 65852603 65852603 single base substitution A G exon_variant LIHC-US 1 65852603 65852603 single base substitution A G synonymous_variant L298L 894A>G LIHC-US 1 65852603 65852603 single base substitution A G synonymous_variant L311L 933A>G LIHC-US 1 65852603 65852603 single base substitution A G synonymous_variant L342L 1026A>G LIHC-US 1 65852603 65852603 single base substitution A G synonymous_variant L368L 1104A>G LIHC-US 1 65867511 65867511 single base substitution C A synonymous_variant T655T 1965C>A LIHC-US 1 65867511 65867511 single base substitution C A synonymous_variant T668T 2004C>A LIHC-US 1 65867511 65867511 single base substitution C A synonymous_variant T725T 2175C>A LIHC-US 1 65874377 65874377 single base substitution A T missense_variant N779Y 2335A>T LIHC-US 1 65874377 65874377 single base substitution A T missense_variant N792Y 2374A>T LIHC-US 1 65874377 65874377 single base substitution A T missense_variant N849Y 2545A>T LINC-JP 1 65712252 65712252 single base substitution T A upstream_gene_variant LINC-JP 1 65738079 65738079 single base substitution G A intron_variant LINC-JP 1 65754294 65754294 single base substitution C A intron_variant LINC-JP 1 65756314 65756314 single base substitution T C intron_variant LINC-JP 1 65758017 65758017 single base substitution T G intron_variant LINC-JP 1 65775119 65775119 single base substitution G C intron_variant LINC-JP 1 65775119 65775119 single base substitution G C upstream_gene_variant LINC-JP 1 65795165 65795165 single base substitution A C intron_variant LINC-JP 1 65800972 65800972 single base substitution G T intron_variant LINC-JP 1 65820060 65820060 single base substitution A C intron_variant LINC-JP 1 65821248 65821248 single base substitution G A intron_variant LINC-JP 1 65828797 65828797 single base substitution C T intron_variant LINC-JP 1 65828797 65828797 single base substitution C T upstream_gene_variant LINC-JP 1 65852101 65852101 single base substitution T G intron_variant LINC-JP 1 65864470 65864470 single base substitution A G intron_variant LINC-JP 1 65876910 65876910 single base substitution C A intron_variant LINC-JP 1 65877548 65877548 single base substitution G C intron_variant LIRI-JP 1 65710941 65710941 single base substitution G A upstream_gene_variant LIRI-JP 1 65710990 65710990 single base substitution G A upstream_gene_variant LIRI-JP 1 65711249 65711249 single base substitution G A upstream_gene_variant LIRI-JP 1 65715286 65715286 single base substitution G T intron_variant LIRI-JP 1 65715286 65715286 single base substitution G T upstream_gene_variant LIRI-JP 1 65715850 65715850 single base substitution C A intron_variant LIRI-JP 1 65715850 65715850 single base substitution C A upstream_gene_variant LIRI-JP 1 65716360 65716360 single base substitution A G intron_variant LIRI-JP 1 65716360 65716360 single base substitution A G upstream_gene_variant LIRI-JP 1 65716605 65716605 single base substitution T C intron_variant LIRI-JP 1 65716605 65716605 single base substitution T C upstream_gene_variant LIRI-JP 1 65716865 65716865 single base substitution G T intron_variant LIRI-JP 1 65716865 65716865 single base substitution G T upstream_gene_variant LIRI-JP 1 65717733 65717733 single base substitution T G intron_variant LIRI-JP 1 65717733 65717733 single base substitution T G upstream_gene_variant LIRI-JP 1 65718469 65718469 single base substitution A G intron_variant LIRI-JP 1 65718469 65718469 single base substitution A G upstream_gene_variant LIRI-JP 1 65721838 65721838 single base substitution T G intron_variant LIRI-JP 1 65722668 65722668 single base substitution T C intron_variant LIRI-JP 1 65725887 65725887 single base substitution T G intron_variant LIRI-JP 1 65725887 65725887 single base substitution T G upstream_gene_variant LIRI-JP 1 65728824 65728824 single base substitution C T intron_variant LIRI-JP 1 65728824 65728824 single base substitution C T upstream_gene_variant LIRI-JP 1 65730929 65730929 single base substitution A G intron_variant LIRI-JP 1 65731847 65731847 single base substitution G A intron_variant LIRI-JP 1 65732322 65732322 single base substitution G T intron_variant LIRI-JP 1 65734459 65734459 single base substitution T C intron_variant LIRI-JP 1 65736292 65736292 single base substitution A G intron_variant LIRI-JP 1 65736897 65736897 single base substitution G A intron_variant LIRI-JP 1 65739729 65739729 single base substitution A G intron_variant LIRI-JP 1 65742770 65742770 single base substitution A G intron_variant LIRI-JP 1 65744451 65744451 single base substitution C A intron_variant LIRI-JP 1 65744694 65744694 single base substitution A G intron_variant LIRI-JP 1 65745551 65745551 single base substitution C T intron_variant LIRI-JP 1 65747560 65747560 single base substitution G A intron_variant LIRI-JP 1 65755875 65755875 single base substitution T C intron_variant LIRI-JP 1 65756822 65756822 single base substitution T G intron_variant LIRI-JP 1 65757363 65757363 single base substitution G T intron_variant LIRI-JP 1 65762261 65762261 single base substitution C A intron_variant LIRI-JP 1 65763909 65763909 single base substitution G T intron_variant LIRI-JP 1 65764107 65764107 single base substitution A G intron_variant LIRI-JP 1 65769755 65769755 single base substitution G A intron_variant LIRI-JP 1 65770046 65770046 single base substitution G T intron_variant LIRI-JP 1 65770500 65770500 single base substitution T C intron_variant LIRI-JP 1 65770500 65770500 single base substitution T C upstream_gene_variant LIRI-JP 1 65770918 65770918 single base substitution T A intron_variant LIRI-JP 1 65770918 65770918 single base substitution T A upstream_gene_variant LIRI-JP 1 65773433 65773440 deletion of <=200bp TAGTCAAG - intron_variant LIRI-JP 1 65773433 65773440 deletion of <=200bp TAGTCAAG - upstream_gene_variant LIRI-JP 1 65774549 65774549 single base substitution G A intron_variant LIRI-JP 1 65774549 65774549 single base substitution G A upstream_gene_variant LIRI-JP 1 65776694 65776694 single base substitution C T intron_variant LIRI-JP 1 65777105 65777105 single base substitution G A intron_variant LIRI-JP 1 65777587 65777587 single base substitution G A intron_variant LIRI-JP 1 65778628 65778628 single base substitution G A intron_variant LIRI-JP 1 65779772 65779772 single base substitution G A intron_variant LIRI-JP 1 65780467 65780467 single base substitution A C intron_variant LIRI-JP 1 65782163 65782163 single base substitution G A intron_variant LIRI-JP 1 65782761 65782761 single base substitution T G intron_variant LIRI-JP 1 65783048 65783048 single base substitution A G intron_variant LIRI-JP 1 65786045 65786045 single base substitution T C intron_variant LIRI-JP 1 65787302 65787302 single base substitution A G intron_variant LIRI-JP 1 65787501 65787501 single base substitution A G intron_variant LIRI-JP 1 65789252 65789252 single base substitution C G intron_variant LIRI-JP 1 65795511 65795511 single base substitution G A intron_variant LIRI-JP 1 65796084 65796084 single base substitution G C intron_variant LIRI-JP 1 65798160 65798160 single base substitution A G intron_variant LIRI-JP 1 65798184 65798184 single base substitution C T intron_variant LIRI-JP 1 65799368 65799368 single base substitution T C intron_variant LIRI-JP 1 65801376 65801376 single base substitution C T intron_variant LIRI-JP 1 65804370 65804370 single base substitution T C intron_variant LIRI-JP 1 65805157 65805157 single base substitution T C intron_variant LIRI-JP 1 65805905 65805905 single base substitution A G intron_variant LIRI-JP 1 65807017 65807017 single base substitution T G intron_variant LIRI-JP 1 65811685 65811685 single base substitution T C intron_variant LIRI-JP 1 65811939 65811939 single base substitution G T intron_variant LIRI-JP 1 65813969 65813969 single base substitution C T intron_variant LIRI-JP 1 65814096 65814096 single base substitution G T intron_variant LIRI-JP 1 65815751 65815751 single base substitution G T intron_variant LIRI-JP 1 65822630 65822630 single base substitution T C intron_variant LIRI-JP 1 65826303 65826303 single base substitution A T intron_variant LIRI-JP 1 65827845 65827845 insertion of <=200bp - G intron_variant LIRI-JP 1 65827845 65827845 insertion of <=200bp - G upstream_gene_variant LIRI-JP 1 65828854 65828854 single base substitution A G intron_variant LIRI-JP 1 65828854 65828854 single base substitution A G upstream_gene_variant LIRI-JP 1 65829834 65829834 single base substitution C T intron_variant LIRI-JP 1 65829834 65829834 single base substitution C T upstream_gene_variant LIRI-JP 1 65833897 65833897 single base substitution G A downstream_gene_variant LIRI-JP 1 65833897 65833897 single base substitution G A intron_variant LIRI-JP 1 65834149 65834150 deletion of <=200bp CA - downstream_gene_variant LIRI-JP 1 65834149 65834150 deletion of <=200bp CA - intron_variant LIRI-JP 1 65835018 65835018 single base substitution C T downstream_gene_variant LIRI-JP 1 65835018 65835018 single base substitution C T intron_variant LIRI-JP 1 65837100 65837100 single base substitution G T intron_variant LIRI-JP 1 65839445 65839445 single base substitution G T intron_variant LIRI-JP 1 65841596 65841596 single base substitution G A intron_variant LIRI-JP 1 65843333 65843333 single base substitution A C intron_variant LIRI-JP 1 65843467 65843467 single base substitution A C intron_variant LIRI-JP 1 65843495 65843495 single base substitution C T intron_variant LIRI-JP 1 65844862 65844862 single base substitution C A intron_variant LIRI-JP 1 65844862 65844862 single base substitution C A upstream_gene_variant LIRI-JP 1 65849098 65849098 single base substitution C A downstream_gene_variant LIRI-JP 1 65849098 65849098 single base substitution C A intron_variant LIRI-JP 1 65849098 65849098 single base substitution C A upstream_gene_variant LIRI-JP 1 65850445 65850445 single base substitution G C downstream_gene_variant LIRI-JP 1 65850445 65850445 single base substitution G C intron_variant LIRI-JP 1 65852784 65852784 single base substitution G A intron_variant LIRI-JP 1 65855010 65855010 single base substitution T A downstream_gene_variant LIRI-JP 1 65855010 65855010 single base substitution T A missense_variant L352Q 1055T>A LIRI-JP 1 65855010 65855010 single base substitution T A missense_variant L365Q 1094T>A LIRI-JP 1 65855010 65855010 single base substitution T A missense_variant L396Q 1187T>A LIRI-JP 1 65855010 65855010 single base substitution T A missense_variant L422Q 1265T>A LIRI-JP 1 65859691 65859691 single base substitution A G downstream_gene_variant LIRI-JP 1 65859691 65859691 single base substitution A G intron_variant LIRI-JP 1 65859838 65859841 deletion of <=200bp TTCA - downstream_gene_variant LIRI-JP 1 65859838 65859841 deletion of <=200bp TTCA - intron_variant LIRI-JP 1 65860219 65860219 single base substitution G A downstream_gene_variant LIRI-JP 1 65860219 65860219 single base substitution G A intron_variant LIRI-JP 1 65861142 65861142 single base substitution A G downstream_gene_variant LIRI-JP 1 65861142 65861142 single base substitution A G intron_variant LIRI-JP 1 65861393 65861393 single base substitution G A downstream_gene_variant LIRI-JP 1 65861393 65861393 single base substitution G A intron_variant LIRI-JP 1 65861756 65861756 single base substitution C T downstream_gene_variant LIRI-JP 1 65861756 65861756 single base substitution C T intron_variant LIRI-JP 1 65864329 65864329 single base substitution T G intron_variant LIRI-JP 1 65867822 65867822 single base substitution C A intron_variant LIRI-JP 1 65869123 65869123 single base substitution G A intron_variant LIRI-JP 1 65873232 65873232 single base substitution C T intron_variant LIRI-JP 1 65873894 65873894 single base substitution T C intron_variant LIRI-JP 1 65873981 65873981 single base substitution C A intron_variant LIRI-JP 1 65875930 65875930 single base substitution G A intron_variant LIRI-JP 1 65876974 65876974 single base substitution C G synonymous_variant A822A 2466C>G LIRI-JP 1 65876974 65876974 single base substitution C G synonymous_variant A835A 2505C>G LIRI-JP 1 65876974 65876974 single base substitution C G synonymous_variant A892A 2676C>G LIRI-JP 1 65880434 65880434 single base substitution G A 3_prime_UTR_variant LIRI-JP 1 65880434 65880434 single base substitution G A downstream_gene_variant LIRI-JP 1 65881124 65881124 single base substitution C G 3_prime_UTR_variant LIRI-JP 1 65881124 65881124 single base substitution C G downstream_gene_variant LIRI-JP 1 65881174 65881174 single base substitution C T 3_prime_UTR_variant LIRI-JP 1 65881174 65881174 single base substitution C T downstream_gene_variant LIRI-JP 1 65884409 65884409 single base substitution A G downstream_gene_variant LUSC-KR 1 65711599 65711599 single base substitution C T upstream_gene_variant LUSC-KR 1 65714359 65714359 single base substitution G T intron_variant LUSC-KR 1 65715500 65715500 single base substitution G T intron_variant LUSC-KR 1 65715500 65715500 single base substitution G T upstream_gene_variant LUSC-KR 1 65719122 65719122 single base substitution C G intron_variant LUSC-KR 1 65719122 65719122 single base substitution C G upstream_gene_variant LUSC-KR 1 65726460 65726460 single base substitution G T intron_variant LUSC-KR 1 65726460 65726460 single base substitution G T upstream_gene_variant LUSC-KR 1 65741105 65741105 single base substitution C A intron_variant LUSC-KR 1 65749722 65749722 single base substitution G T intron_variant LUSC-KR 1 65751606 65751606 single base substitution G T intron_variant LUSC-KR 1 65753829 65753829 single base substitution G A intron_variant LUSC-KR 1 65761208 65761208 single base substitution A G intron_variant LUSC-KR 1 65761210 65761210 single base substitution A T intron_variant LUSC-KR 1 65764134 65764134 single base substitution C T intron_variant LUSC-KR 1 65767188 65767188 single base substitution G T intron_variant LUSC-KR 1 65767189 65767189 single base substitution A T intron_variant LUSC-KR 1 65770504 65770504 single base substitution C T intron_variant LUSC-KR 1 65770504 65770504 single base substitution C T upstream_gene_variant LUSC-KR 1 65772699 65772699 single base substitution C A intron_variant LUSC-KR 1 65772699 65772699 single base substitution C A upstream_gene_variant LUSC-KR 1 65773347 65773347 single base substitution G T intron_variant LUSC-KR 1 65773347 65773347 single base substitution G T upstream_gene_variant LUSC-KR 1 65782229 65782229 single base substitution G C intron_variant LUSC-KR 1 65784959 65784959 single base substitution G T intron_variant LUSC-KR 1 65786706 65786706 single base substitution T C intron_variant LUSC-KR 1 65788460 65788460 single base substitution C A intron_variant LUSC-KR 1 65788798 65788798 single base substitution A C intron_variant LUSC-KR 1 65790401 65790401 single base substitution C T intron_variant LUSC-KR 1 65796440 65796440 single base substitution G A intron_variant LUSC-KR 1 65797877 65797877 single base substitution G T intron_variant LUSC-KR 1 65801297 65801297 single base substitution G T intron_variant LUSC-KR 1 65804647 65804647 single base substitution C G intron_variant LUSC-KR 1 65806369 65806369 single base substitution A G intron_variant LUSC-KR 1 65807730 65807730 single base substitution C T intron_variant LUSC-KR 1 65808050 65808050 single base substitution C A intron_variant LUSC-KR 1 65822484 65822484 single base substitution C G intron_variant LUSC-KR 1 65829531 65829531 single base substitution G T intron_variant LUSC-KR 1 65829531 65829531 single base substitution G T upstream_gene_variant LUSC-KR 1 65830133 65830133 single base substitution G T intron_variant LUSC-KR 1 65830133 65830133 single base substitution G T upstream_gene_variant LUSC-KR 1 65830297 65830297 single base substitution G T intron_variant LUSC-KR 1 65830297 65830297 single base substitution G T upstream_gene_variant LUSC-KR 1 65830299 65830299 single base substitution T G intron_variant LUSC-KR 1 65830299 65830299 single base substitution T G upstream_gene_variant LUSC-KR 1 65831201 65831201 single base substitution C G downstream_gene_variant LUSC-KR 1 65831201 65831201 single base substitution C G intron_variant LUSC-KR 1 65831201 65831201 single base substitution C G upstream_gene_variant LUSC-KR 1 65831440 65831440 single base substitution C A downstream_gene_variant LUSC-KR 1 65831440 65831440 single base substitution C A intron_variant LUSC-KR 1 65831440 65831440 single base substitution C A upstream_gene_variant LUSC-KR 1 65835473 65835473 single base substitution T C downstream_gene_variant LUSC-KR 1 65835473 65835473 single base substitution T C intron_variant LUSC-KR 1 65836020 65836020 single base substitution C A downstream_gene_variant LUSC-KR 1 65836020 65836020 single base substitution C A intron_variant LUSC-KR 1 65836132 65836132 single base substitution C T downstream_gene_variant LUSC-KR 1 65836132 65836132 single base substitution C T intron_variant LUSC-KR 1 65844506 65844506 single base substitution C A intron_variant LUSC-KR 1 65844552 65844552 single base substitution A G intron_variant LUSC-KR 1 65846749 65846749 single base substitution G T downstream_gene_variant LUSC-KR 1 65846749 65846749 single base substitution G T intron_variant LUSC-KR 1 65846749 65846749 single base substitution G T upstream_gene_variant LUSC-KR 1 65847975 65847975 single base substitution G A downstream_gene_variant LUSC-KR 1 65847975 65847975 single base substitution G A intron_variant LUSC-KR 1 65847975 65847975 single base substitution G A upstream_gene_variant LUSC-KR 1 65855787 65855787 single base substitution A T downstream_gene_variant LUSC-KR 1 65855787 65855787 single base substitution A T intron_variant LUSC-KR 1 65856039 65856039 single base substitution C T downstream_gene_variant LUSC-KR 1 65856039 65856039 single base substitution C T intron_variant LUSC-KR 1 65858009 65858009 single base substitution G T downstream_gene_variant LUSC-KR 1 65858009 65858009 single base substitution G T intron_variant LUSC-KR 1 65858088 65858088 single base substitution T C downstream_gene_variant LUSC-KR 1 65858088 65858088 single base substitution T C intron_variant LUSC-KR 1 65858145 65858145 single base substitution G A downstream_gene_variant LUSC-KR 1 65858145 65858145 single base substitution G A synonymous_variant E430E 1290G>A LUSC-KR 1 65858145 65858145 single base substitution G A synonymous_variant E443E 1329G>A LUSC-KR 1 65858145 65858145 single base substitution G A synonymous_variant E474E 1422G>A LUSC-KR 1 65858145 65858145 single base substitution G A synonymous_variant E500E 1500G>A LUSC-KR 1 65862637 65862637 single base substitution G A downstream_gene_variant LUSC-KR 1 65862637 65862637 single base substitution G A intron_variant LUSC-KR 1 65864125 65864125 single base substitution G C intron_variant LUSC-KR 1 65867759 65867759 single base substitution C T intron_variant LUSC-KR 1 65871591 65871591 single base substitution G T stop_gained G686* 2056G>T LUSC-KR 1 65871591 65871591 single base substitution G T stop_gained G699* 2095G>T LUSC-KR 1 65871591 65871591 single base substitution G T stop_gained G756* 2266G>T LUSC-KR 1 65886371 65886371 single base substitution G T downstream_gene_variant LUSC-US 1 65845103 65845103 single base substitution C T exon_variant LUSC-US 1 65845103 65845103 single base substitution C T missense_variant P118S 352C>T LUSC-US 1 65845103 65845103 single base substitution C T missense_variant P131S 391C>T LUSC-US 1 65845103 65845103 single base substitution C T missense_variant P162S 484C>T LUSC-US 1 65845103 65845103 single base substitution C T missense_variant P188S 562C>T LUSC-US 1 65845103 65845103 single base substitution C T upstream_gene_variant LUSC-US 1 65851519 65851519 single base substitution C A exon_variant LUSC-US 1 65851519 65851519 single base substitution C A missense_variant R239S 715C>A LUSC-US 1 65851519 65851519 single base substitution C A missense_variant R252S 754C>A LUSC-US 1 65851519 65851519 single base substitution C A missense_variant R283S 847C>A LUSC-US 1 65851519 65851519 single base substitution C A missense_variant R309S 925C>A LUSC-US 1 65852522 65852522 single base substitution C G exon_variant LUSC-US 1 65852522 65852522 single base substitution C G missense_variant I271M 813C>G LUSC-US 1 65852522 65852522 single base substitution C G missense_variant I284M 852C>G LUSC-US 1 65852522 65852522 single base substitution C G missense_variant I315M 945C>G LUSC-US 1 65852522 65852522 single base substitution C G missense_variant I341M 1023C>G LUSC-US 1 65854059 65854059 single base substitution G T exon_variant LUSC-US 1 65854059 65854059 single base substitution G T missense_variant G315V 944G>T LUSC-US 1 65854059 65854059 single base substitution G T missense_variant G328V 983G>T LUSC-US 1 65854059 65854059 single base substitution G T missense_variant G359V 1076G>T LUSC-US 1 65854059 65854059 single base substitution G T missense_variant G385V 1154G>T LUSC-US 1 65855081 65855081 single base substitution A G downstream_gene_variant LUSC-US 1 65855081 65855081 single base substitution A G missense_variant S376G 1126A>G LUSC-US 1 65855081 65855081 single base substitution A G missense_variant S389G 1165A>G LUSC-US 1 65855081 65855081 single base substitution A G missense_variant S420G 1258A>G LUSC-US 1 65855081 65855081 single base substitution A G missense_variant S446G 1336A>G LUSC-US 1 65855118 65855118 single base substitution C T downstream_gene_variant LUSC-US 1 65855118 65855118 single base substitution C T missense_variant T388M 1163C>T LUSC-US 1 65855118 65855118 single base substitution C T missense_variant T401M 1202C>T LUSC-US 1 65855118 65855118 single base substitution C T missense_variant T432M 1295C>T LUSC-US 1 65855118 65855118 single base substitution C T missense_variant T458M 1373C>T LUSC-US 1 65855271 65855271 single base substitution T C downstream_gene_variant LUSC-US 1 65855271 65855271 single base substitution T C missense_variant Y407H 1219T>C LUSC-US 1 65855271 65855271 single base substitution T C missense_variant Y420H 1258T>C LUSC-US 1 65855271 65855271 single base substitution T C missense_variant Y451H 1351T>C LUSC-US 1 65855271 65855271 single base substitution T C missense_variant Y477H 1429T>C LUSC-US 1 65858250 65858250 single base substitution C G downstream_gene_variant LUSC-US 1 65858250 65858250 single base substitution C G synonymous_variant V465V 1395C>G LUSC-US 1 65858250 65858250 single base substitution C G synonymous_variant V478V 1434C>G LUSC-US 1 65858250 65858250 single base substitution C G synonymous_variant V509V 1527C>G LUSC-US 1 65858250 65858250 single base substitution C G synonymous_variant V535V 1605C>G MALY-DE 1 65718235 65718235 single base substitution A G intron_variant MALY-DE 1 65718235 65718235 single base substitution A G upstream_gene_variant MALY-DE 1 65723784 65723784 single base substitution G A intron_variant MALY-DE 1 65725270 65725270 single base substitution T A intron_variant MALY-DE 1 65727981 65727981 single base substitution A T intron_variant MALY-DE 1 65727981 65727981 single base substitution A T upstream_gene_variant MALY-DE 1 65753000 65753000 single base substitution T C intron_variant MALY-DE 1 65754882 65754882 deletion of <=200bp T - intron_variant MALY-DE 1 65758199 65758199 single base substitution G T intron_variant MALY-DE 1 65761242 65761242 single base substitution T G intron_variant MALY-DE 1 65763872 65763872 single base substitution G T intron_variant MALY-DE 1 65779934 65779934 single base substitution A T intron_variant MALY-DE 1 65780802 65780802 single base substitution C A intron_variant MALY-DE 1 65787203 65787203 deletion of <=200bp T - intron_variant MALY-DE 1 65791403 65791403 single base substitution G A intron_variant MALY-DE 1 65791666 65791666 single base substitution G C intron_variant MALY-DE 1 65792288 65792288 single base substitution G T intron_variant MALY-DE 1 65807976 65807976 single base substitution A C intron_variant MALY-DE 1 65809426 65809426 deletion of <=200bp A - intron_variant MALY-DE 1 65811603 65811603 single base substitution A G intron_variant MALY-DE 1 65812148 65812148 single base substitution T G intron_variant MALY-DE 1 65817454 65817454 single base substitution T A intron_variant MALY-DE 1 65823903 65823903 single base substitution C T intron_variant MALY-DE 1 65827728 65827728 insertion of <=200bp - T intron_variant MALY-DE 1 65827728 65827728 insertion of <=200bp - T upstream_gene_variant MALY-DE 1 65830203 65830203 single base substitution G A intron_variant MALY-DE 1 65830203 65830203 single base substitution G A upstream_gene_variant MALY-DE 1 65831368 65831368 single base substitution G T downstream_gene_variant MALY-DE 1 65831368 65831368 single base substitution G T intron_variant MALY-DE 1 65831368 65831368 single base substitution G T upstream_gene_variant MALY-DE 1 65837758 65837758 single base substitution T G intron_variant MALY-DE 1 65839012 65839012 single base substitution G A intron_variant MALY-DE 1 65839530 65839530 single base substitution A T intron_variant MALY-DE 1 65848932 65848932 single base substitution G A downstream_gene_variant MALY-DE 1 65848932 65848932 single base substitution G A intron_variant MALY-DE 1 65848932 65848932 single base substitution G A upstream_gene_variant MALY-DE 1 65856978 65856978 single base substitution T G downstream_gene_variant MALY-DE 1 65856978 65856978 single base substitution T G intron_variant MALY-DE 1 65857601 65857601 single base substitution C T downstream_gene_variant MALY-DE 1 65857601 65857601 single base substitution C T intron_variant MALY-DE 1 65864921 65864921 single base substitution C G intron_variant MALY-DE 1 65865146 65865146 single base substitution A G intron_variant MALY-DE 1 65867353 65867353 single base substitution G C intron_variant MALY-DE 1 65873163 65873163 single base substitution G A intron_variant MALY-DE 1 65881133 65881134 deletion of <=200bp AC - 3_prime_UTR_variant MALY-DE 1 65881133 65881134 deletion of <=200bp AC - downstream_gene_variant MALY-DE 1 65881302 65881302 single base substitution A G 3_prime_UTR_variant MALY-DE 1 65881302 65881302 single base substitution A G downstream_gene_variant MELA-AU 1 65709453 65709453 single base substitution C T upstream_gene_variant MELA-AU 1 65709458 65709458 single base substitution C T upstream_gene_variant MELA-AU 1 65709502 65709502 single base substitution G A upstream_gene_variant MELA-AU 1 65709583 65709583 single base substitution C T upstream_gene_variant MELA-AU 1 65709585 65709585 single base substitution C T upstream_gene_variant MELA-AU 1 65709694 65709694 single base substitution G A upstream_gene_variant MELA-AU 1 65710779 65710779 single base substitution G A upstream_gene_variant MELA-AU 1 65712343 65712343 single base substitution A T upstream_gene_variant MELA-AU 1 65712878 65712878 single base substitution C T upstream_gene_variant MELA-AU 1 65712925 65712925 single base substitution C T upstream_gene_variant MELA-AU 1 65713088 65713088 single base substitution A C upstream_gene_variant MELA-AU 1 65714513 65714513 single base substitution G A intron_variant MELA-AU 1 65715771 65715771 single base substitution C T intron_variant MELA-AU 1 65715771 65715771 single base substitution C T upstream_gene_variant MELA-AU 1 65716295 65716295 single base substitution C T intron_variant MELA-AU 1 65716295 65716295 single base substitution C T upstream_gene_variant MELA-AU 1 65716816 65716816 single base substitution C T intron_variant MELA-AU 1 65716816 65716816 single base substitution C T upstream_gene_variant MELA-AU 1 65716882 65716882 single base substitution A C intron_variant MELA-AU 1 65716882 65716882 single base substitution A C upstream_gene_variant MELA-AU 1 65717028 65717028 single base substitution C T intron_variant MELA-AU 1 65717028 65717028 single base substitution C T upstream_gene_variant MELA-AU 1 65717302 65717302 single base substitution G A intron_variant MELA-AU 1 65717302 65717302 single base substitution G A upstream_gene_variant MELA-AU 1 65718062 65718062 single base substitution G A intron_variant MELA-AU 1 65718062 65718062 single base substitution G A upstream_gene_variant MELA-AU 1 65718355 65718355 single base substitution C T intron_variant MELA-AU 1 65718355 65718355 single base substitution C T upstream_gene_variant MELA-AU 1 65718695 65718695 single base substitution T G intron_variant MELA-AU 1 65718695 65718695 single base substitution T G upstream_gene_variant MELA-AU 1 65718710 65718710 single base substitution C T intron_variant MELA-AU 1 65718710 65718710 single base substitution C T upstream_gene_variant MELA-AU 1 65718846 65718846 single base substitution G T intron_variant MELA-AU 1 65718846 65718846 single base substitution G T upstream_gene_variant MELA-AU 1 65719632 65719632 single base substitution C T intron_variant MELA-AU 1 65719632 65719632 single base substitution C T upstream_gene_variant MELA-AU 1 65720600 65720600 single base substitution C T intron_variant MELA-AU 1 65721651 65721651 single base substitution C T intron_variant MELA-AU 1 65723108 65723108 single base substitution C T intron_variant MELA-AU 1 65723720 65723720 single base substitution T C intron_variant MELA-AU 1 65724137 65724137 single base substitution G A intron_variant MELA-AU 1 65724593 65724593 single base substitution C T intron_variant MELA-AU 1 65724744 65724744 single base substitution C T intron_variant MELA-AU 1 65725151 65725151 single base substitution C T intron_variant MELA-AU 1 65726887 65726887 single base substitution C T intron_variant MELA-AU 1 65726887 65726887 single base substitution C T upstream_gene_variant MELA-AU 1 65727442 65727442 single base substitution C T intron_variant MELA-AU 1 65727442 65727442 single base substitution C T upstream_gene_variant MELA-AU 1 65729468 65729468 single base substitution G A intron_variant MELA-AU 1 65729468 65729468 single base substitution G A upstream_gene_variant MELA-AU 1 65730566 65730566 single base substitution C A 5_prime_UTR_variant MELA-AU 1 65730566 65730566 single base substitution C A exon_variant MELA-AU 1 65730566 65730566 single base substitution C A intron_variant MELA-AU 1 65731462 65731462 single base substitution C T intron_variant MELA-AU 1 65731860 65731862 multiple base substitution (>=2bp and <=200bp) TTC AAA intron_variant MELA-AU 1 65732989 65732989 single base substitution G A intron_variant MELA-AU 1 65733114 65733114 single base substitution C T intron_variant MELA-AU 1 65733143 65733143 single base substitution T G intron_variant MELA-AU 1 65733379 65733379 single base substitution A C intron_variant MELA-AU 1 65733505 65733505 single base substitution C T intron_variant MELA-AU 1 65734948 65734948 single base substitution G A intron_variant MELA-AU 1 65734965 65734965 single base substitution C T intron_variant MELA-AU 1 65735193 65735193 single base substitution C T intron_variant MELA-AU 1 65735253 65735253 single base substitution A G intron_variant MELA-AU 1 65735401 65735401 single base substitution G A intron_variant MELA-AU 1 65735451 65735451 single base substitution A C intron_variant MELA-AU 1 65736801 65736801 single base substitution C T intron_variant MELA-AU 1 65736932 65736932 single base substitution C T intron_variant MELA-AU 1 65737724 65737724 single base substitution T G intron_variant MELA-AU 1 65738078 65738078 single base substitution C T intron_variant MELA-AU 1 65738089 65738089 single base substitution C T intron_variant MELA-AU 1 65738133 65738133 single base substitution G T intron_variant MELA-AU 1 65738196 65738196 single base substitution A T intron_variant MELA-AU 1 65738726 65738726 single base substitution G T intron_variant MELA-AU 1 65738950 65738950 single base substitution C T intron_variant MELA-AU 1 65740465 65740465 single base substitution C T intron_variant MELA-AU 1 65740507 65740507 single base substitution C T intron_variant MELA-AU 1 65740525 65740525 single base substitution A T intron_variant MELA-AU 1 65740858 65740858 single base substitution C T intron_variant MELA-AU 1 65741061 65741061 single base substitution C T intron_variant MELA-AU 1 65741274 65741274 single base substitution A T intron_variant MELA-AU 1 65742222 65742222 single base substitution C T intron_variant MELA-AU 1 65742330 65742330 single base substitution G A intron_variant MELA-AU 1 65742537 65742537 single base substitution C T intron_variant MELA-AU 1 65742960 65742960 single base substitution A T intron_variant MELA-AU 1 65743553 65743553 single base substitution G A intron_variant MELA-AU 1 65743816 65743816 single base substitution C T intron_variant MELA-AU 1 65744211 65744211 insertion of <=200bp - AT intron_variant MELA-AU 1 65744765 65744765 single base substitution G A intron_variant MELA-AU 1 65744776 65744776 single base substitution C T intron_variant MELA-AU 1 65744820 65744820 single base substitution C T intron_variant MELA-AU 1 65745344 65745344 single base substitution T C intron_variant MELA-AU 1 65745518 65745518 single base substitution C T intron_variant MELA-AU 1 65745978 65745978 single base substitution C T intron_variant MELA-AU 1 65746204 65746204 single base substitution C T intron_variant MELA-AU 1 65746949 65746949 single base substitution C T intron_variant MELA-AU 1 65747117 65747117 single base substitution C A intron_variant MELA-AU 1 65747265 65747265 single base substitution C A intron_variant MELA-AU 1 65747382 65747382 single base substitution C T intron_variant MELA-AU 1 65747532 65747532 single base substitution C T intron_variant MELA-AU 1 65747548 65747548 single base substitution C T intron_variant MELA-AU 1 65747742 65747742 single base substitution G A intron_variant MELA-AU 1 65747984 65747984 single base substitution T C intron_variant MELA-AU 1 65748177 65748178 multiple base substitution (>=2bp and <=200bp) GG TA intron_variant MELA-AU 1 65748438 65748438 single base substitution C T intron_variant MELA-AU 1 65748523 65748524 multiple base substitution (>=2bp and <=200bp) AC TT intron_variant MELA-AU 1 65748527 65748527 single base substitution C T intron_variant MELA-AU 1 65748987 65748987 single base substitution C T intron_variant MELA-AU 1 65749196 65749196 single base substitution C T intron_variant MELA-AU 1 65749764 65749764 single base substitution C T intron_variant MELA-AU 1 65749962 65749962 single base substitution C T intron_variant MELA-AU 1 65750061 65750061 single base substitution C T intron_variant MELA-AU 1 65750108 65750108 single base substitution C T intron_variant MELA-AU 1 65750279 65750279 single base substitution G A intron_variant MELA-AU 1 65750729 65750729 single base substitution C T intron_variant MELA-AU 1 65750845 65750845 single base substitution C T intron_variant MELA-AU 1 65751754 65751754 single base substitution C T intron_variant MELA-AU 1 65751765 65751765 single base substitution C T intron_variant MELA-AU 1 65752039 65752040 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 65753095 65753095 single base substitution C T intron_variant MELA-AU 1 65753149 65753149 single base substitution T A intron_variant MELA-AU 1 65753195 65753195 single base substitution G A intron_variant MELA-AU 1 65753694 65753694 deletion of <=200bp A - intron_variant MELA-AU 1 65753791 65753791 single base substitution G C intron_variant MELA-AU 1 65754410 65754410 single base substitution G A intron_variant MELA-AU 1 65754430 65754430 single base substitution G A intron_variant MELA-AU 1 65754445 65754445 single base substitution G A intron_variant MELA-AU 1 65754895 65754895 single base substitution C T intron_variant MELA-AU 1 65754940 65754940 single base substitution A C intron_variant MELA-AU 1 65756111 65756111 single base substitution C T intron_variant MELA-AU 1 65756117 65756117 single base substitution C T intron_variant MELA-AU 1 65756668 65756668 single base substitution C T intron_variant MELA-AU 1 65757272 65757272 single base substitution C T intron_variant MELA-AU 1 65758028 65758028 single base substitution T C intron_variant MELA-AU 1 65758122 65758122 single base substitution C T intron_variant MELA-AU 1 65758234 65758234 single base substitution T G intron_variant MELA-AU 1 65758239 65758239 single base substitution G A intron_variant MELA-AU 1 65758648 65758648 single base substitution C T intron_variant MELA-AU 1 65759067 65759067 single base substitution C T intron_variant MELA-AU 1 65759159 65759159 single base substitution G A intron_variant MELA-AU 1 65759225 65759225 single base substitution C T intron_variant MELA-AU 1 65759588 65759588 single base substitution C T intron_variant MELA-AU 1 65760807 65760807 single base substitution G A intron_variant MELA-AU 1 65760939 65760939 single base substitution C T intron_variant MELA-AU 1 65762628 65762628 single base substitution A G intron_variant MELA-AU 1 65763257 65763257 single base substitution C T intron_variant MELA-AU 1 65764922 65764922 single base substitution C T intron_variant MELA-AU 1 65765091 65765091 single base substitution T C intron_variant MELA-AU 1 65765617 65765617 single base substitution C T intron_variant MELA-AU 1 65765671 65765671 single base substitution C T intron_variant MELA-AU 1 65765764 65765764 single base substitution C T intron_variant MELA-AU 1 65765991 65765991 single base substitution C T intron_variant MELA-AU 1 65766016 65766016 single base substitution C T intron_variant MELA-AU 1 65766077 65766077 single base substitution C T intron_variant MELA-AU 1 65766318 65766318 single base substitution C T intron_variant MELA-AU 1 65767145 65767145 single base substitution C T intron_variant MELA-AU 1 65767405 65767405 single base substitution C T intron_variant MELA-AU 1 65767434 65767434 single base substitution G A intron_variant MELA-AU 1 65767557 65767557 single base substitution C T intron_variant MELA-AU 1 65768526 65768526 single base substitution C T intron_variant MELA-AU 1 65769265 65769266 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 65769513 65769513 single base substitution C T intron_variant MELA-AU 1 65769603 65769604 multiple base substitution (>=2bp and <=200bp) GT AA intron_variant MELA-AU 1 65770333 65770333 single base substitution G A intron_variant MELA-AU 1 65770333 65770333 single base substitution G A upstream_gene_variant MELA-AU 1 65772003 65772003 single base substitution C T intron_variant MELA-AU 1 65772003 65772003 single base substitution C T upstream_gene_variant MELA-AU 1 65772229 65772229 single base substitution T C intron_variant MELA-AU 1 65772229 65772229 single base substitution T C upstream_gene_variant MELA-AU 1 65772495 65772495 single base substitution C T intron_variant MELA-AU 1 65772495 65772495 single base substitution C T upstream_gene_variant MELA-AU 1 65772699 65772699 single base substitution C A intron_variant MELA-AU 1 65772699 65772699 single base substitution C A upstream_gene_variant MELA-AU 1 65773646 65773646 single base substitution C T intron_variant MELA-AU 1 65773646 65773646 single base substitution C T upstream_gene_variant MELA-AU 1 65773903 65773903 single base substitution C T intron_variant MELA-AU 1 65773903 65773903 single base substitution C T upstream_gene_variant MELA-AU 1 65774212 65774212 single base substitution T C intron_variant MELA-AU 1 65774212 65774212 single base substitution T C upstream_gene_variant MELA-AU 1 65774232 65774232 single base substitution C T intron_variant MELA-AU 1 65774232 65774232 single base substitution C T upstream_gene_variant MELA-AU 1 65774369 65774369 single base substitution A G intron_variant MELA-AU 1 65774369 65774369 single base substitution A G upstream_gene_variant MELA-AU 1 65774596 65774596 single base substitution C G intron_variant MELA-AU 1 65774596 65774596 single base substitution C G upstream_gene_variant MELA-AU 1 65774983 65774983 single base substitution C T intron_variant MELA-AU 1 65774983 65774983 single base substitution C T upstream_gene_variant MELA-AU 1 65774988 65774988 single base substitution C T intron_variant MELA-AU 1 65774988 65774988 single base substitution C T upstream_gene_variant MELA-AU 1 65774989 65774989 single base substitution C T intron_variant MELA-AU 1 65774989 65774989 single base substitution C T upstream_gene_variant MELA-AU 1 65776100 65776100 single base substitution T G intron_variant MELA-AU 1 65776678 65776678 single base substitution T A intron_variant MELA-AU 1 65776993 65776993 single base substitution C T intron_variant MELA-AU 1 65777067 65777067 single base substitution C A intron_variant MELA-AU 1 65777334 65777334 single base substitution C T intron_variant MELA-AU 1 65777471 65777471 single base substitution C T intron_variant MELA-AU 1 65777893 65777893 single base substitution C T intron_variant MELA-AU 1 65777982 65777982 single base substitution C T intron_variant MELA-AU 1 65778172 65778172 single base substitution G A intron_variant MELA-AU 1 65778524 65778524 single base substitution C T intron_variant MELA-AU 1 65778700 65778700 single base substitution C T intron_variant MELA-AU 1 65779001 65779001 single base substitution C T intron_variant MELA-AU 1 65779355 65779355 single base substitution C T intron_variant MELA-AU 1 65780294 65780294 single base substitution C T intron_variant MELA-AU 1 65780305 65780305 single base substitution G A intron_variant MELA-AU 1 65780819 65780819 single base substitution C T intron_variant MELA-AU 1 65780875 65780875 single base substitution C T intron_variant MELA-AU 1 65780888 65780888 single base substitution C G intron_variant MELA-AU 1 65781005 65781005 single base substitution C T intron_variant MELA-AU 1 65781455 65781455 single base substitution T C intron_variant MELA-AU 1 65781905 65781905 single base substitution C T intron_variant MELA-AU 1 65782013 65782013 single base substitution C T intron_variant MELA-AU 1 65782564 65782564 single base substitution C T intron_variant MELA-AU 1 65783241 65783241 single base substitution C T intron_variant MELA-AU 1 65783397 65783397 single base substitution C T intron_variant MELA-AU 1 65783465 65783465 single base substitution G A intron_variant MELA-AU 1 65783526 65783526 single base substitution A T intron_variant MELA-AU 1 65783697 65783697 single base substitution C T intron_variant MELA-AU 1 65784030 65784030 single base substitution A G intron_variant MELA-AU 1 65784094 65784094 single base substitution C T intron_variant MELA-AU 1 65785264 65785264 single base substitution G A intron_variant MELA-AU 1 65785440 65785440 single base substitution C T intron_variant MELA-AU 1 65785490 65785490 single base substitution C A intron_variant MELA-AU 1 65785525 65785525 single base substitution C T intron_variant MELA-AU 1 65785610 65785610 single base substitution C T intron_variant MELA-AU 1 65786457 65786457 single base substitution G A intron_variant MELA-AU 1 65786969 65786969 single base substitution G A intron_variant MELA-AU 1 65788000 65788000 single base substitution C T intron_variant MELA-AU 1 65788175 65788175 single base substitution G A intron_variant MELA-AU 1 65788424 65788424 single base substitution C T intron_variant MELA-AU 1 65788990 65788990 single base substitution G A intron_variant MELA-AU 1 65789059 65789059 single base substitution C T intron_variant MELA-AU 1 65789328 65789328 single base substitution G A intron_variant MELA-AU 1 65789702 65789702 single base substitution C T intron_variant MELA-AU 1 65790127 65790127 single base substitution C T intron_variant MELA-AU 1 65790137 65790137 single base substitution G A intron_variant MELA-AU 1 65790201 65790201 single base substitution T C intron_variant MELA-AU 1 65790489 65790489 single base substitution T A intron_variant MELA-AU 1 65790702 65790702 single base substitution C T intron_variant MELA-AU 1 65790838 65790838 single base substitution C T intron_variant MELA-AU 1 65791053 65791053 single base substitution T A intron_variant MELA-AU 1 65791695 65791695 single base substitution C T intron_variant MELA-AU 1 65791794 65791794 single base substitution G A intron_variant MELA-AU 1 65792303 65792304 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 65792884 65792884 single base substitution T A intron_variant MELA-AU 1 65793099 65793099 single base substitution T A intron_variant MELA-AU 1 65793370 65793370 single base substitution T C intron_variant MELA-AU 1 65794229 65794229 single base substitution A C intron_variant MELA-AU 1 65794505 65794505 single base substitution C T intron_variant MELA-AU 1 65795262 65795262 single base substitution C T intron_variant MELA-AU 1 65795429 65795429 single base substitution C T intron_variant MELA-AU 1 65795644 65795644 single base substitution C T intron_variant MELA-AU 1 65795665 65795665 single base substitution G A intron_variant MELA-AU 1 65795792 65795792 single base substitution C T intron_variant MELA-AU 1 65796274 65796274 single base substitution C T intron_variant MELA-AU 1 65796953 65796953 single base substitution A G intron_variant MELA-AU 1 65796964 65796964 single base substitution C T intron_variant MELA-AU 1 65797000 65797000 single base substitution C T intron_variant MELA-AU 1 65797166 65797166 single base substitution C T intron_variant MELA-AU 1 65797664 65797664 single base substitution C T intron_variant MELA-AU 1 65797795 65797795 single base substitution C T intron_variant MELA-AU 1 65797836 65797837 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 65797951 65797951 single base substitution T C intron_variant MELA-AU 1 65798445 65798445 single base substitution C T intron_variant MELA-AU 1 65798555 65798555 single base substitution T C intron_variant MELA-AU 1 65798584 65798584 single base substitution C T intron_variant MELA-AU 1 65798996 65798996 single base substitution G A intron_variant MELA-AU 1 65799307 65799307 single base substitution A T intron_variant MELA-AU 1 65799349 65799349 single base substitution A C intron_variant MELA-AU 1 65799432 65799432 single base substitution G A intron_variant MELA-AU 1 65799711 65799711 single base substitution C T intron_variant MELA-AU 1 65799742 65799742 single base substitution C T intron_variant MELA-AU 1 65799898 65799898 single base substitution G A intron_variant MELA-AU 1 65800308 65800308 single base substitution C T intron_variant MELA-AU 1 65800781 65800781 single base substitution C T intron_variant MELA-AU 1 65800881 65800881 single base substitution C T intron_variant MELA-AU 1 65801024 65801024 single base substitution C T intron_variant MELA-AU 1 65801219 65801219 single base substitution C T intron_variant MELA-AU 1 65801510 65801510 single base substitution A G intron_variant MELA-AU 1 65801934 65801934 single base substitution C T intron_variant MELA-AU 1 65802068 65802068 single base substitution C T intron_variant MELA-AU 1 65802378 65802379 multiple base substitution (>=2bp and <=200bp) AC TT intron_variant MELA-AU 1 65802534 65802534 single base substitution C T intron_variant MELA-AU 1 65802547 65802547 single base substitution C T intron_variant MELA-AU 1 65802761 65802761 single base substitution C T intron_variant MELA-AU 1 65802767 65802767 single base substitution C T intron_variant MELA-AU 1 65802844 65802844 single base substitution G A intron_variant MELA-AU 1 65802868 65802868 single base substitution C T intron_variant MELA-AU 1 65803179 65803179 single base substitution C T intron_variant MELA-AU 1 65803266 65803266 single base substitution C T intron_variant MELA-AU 1 65803316 65803317 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 65803487 65803487 single base substitution G A intron_variant MELA-AU 1 65803862 65803862 single base substitution T A intron_variant MELA-AU 1 65804126 65804126 single base substitution C T intron_variant MELA-AU 1 65804261 65804261 single base substitution C T intron_variant MELA-AU 1 65804298 65804298 single base substitution C T intron_variant MELA-AU 1 65804306 65804306 single base substitution C T intron_variant MELA-AU 1 65804319 65804319 single base substitution C T intron_variant MELA-AU 1 65804557 65804557 single base substitution C T intron_variant MELA-AU 1 65804582 65804582 single base substitution T C intron_variant MELA-AU 1 65805146 65805146 single base substitution C A intron_variant MELA-AU 1 65805199 65805199 single base substitution G A intron_variant MELA-AU 1 65805895 65805895 single base substitution G A intron_variant MELA-AU 1 65806042 65806042 single base substitution C T intron_variant MELA-AU 1 65806119 65806119 single base substitution C T intron_variant MELA-AU 1 65806304 65806304 single base substitution T G intron_variant MELA-AU 1 65806423 65806423 single base substitution C T intron_variant MELA-AU 1 65806679 65806680 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 65806939 65806939 single base substitution C T intron_variant MELA-AU 1 65807021 65807021 single base substitution C T intron_variant MELA-AU 1 65807122 65807122 single base substitution G A intron_variant MELA-AU 1 65807918 65807918 single base substitution C T intron_variant MELA-AU 1 65807942 65807942 single base substitution C T intron_variant MELA-AU 1 65808900 65808900 single base substitution C T intron_variant MELA-AU 1 65809088 65809088 single base substitution G A intron_variant MELA-AU 1 65809106 65809106 single base substitution C T intron_variant MELA-AU 1 65809183 65809183 single base substitution C T intron_variant MELA-AU 1 65809192 65809192 single base substitution G A intron_variant MELA-AU 1 65809793 65809793 single base substitution G A intron_variant MELA-AU 1 65809896 65809896 single base substitution C T intron_variant MELA-AU 1 65810128 65810128 single base substitution C T intron_variant MELA-AU 1 65810619 65810619 single base substitution G A intron_variant MELA-AU 1 65811281 65811281 single base substitution C T intron_variant MELA-AU 1 65811425 65811425 single base substitution C T intron_variant MELA-AU 1 65811594 65811594 single base substitution C T intron_variant MELA-AU 1 65812087 65812087 single base substitution C T intron_variant MELA-AU 1 65812152 65812152 single base substitution G A intron_variant MELA-AU 1 65812502 65812502 single base substitution G A intron_variant MELA-AU 1 65813095 65813095 single base substitution T C intron_variant MELA-AU 1 65813313 65813313 single base substitution C T intron_variant MELA-AU 1 65813341 65813341 single base substitution C T intron_variant MELA-AU 1 65813531 65813531 single base substitution C T intron_variant MELA-AU 1 65813536 65813536 single base substitution C A intron_variant MELA-AU 1 65813718 65813718 single base substitution C T intron_variant MELA-AU 1 65813828 65813828 single base substitution C A intron_variant MELA-AU 1 65814211 65814211 single base substitution C T intron_variant MELA-AU 1 65815178 65815178 single base substitution C T intron_variant MELA-AU 1 65815398 65815398 single base substitution C T intron_variant MELA-AU 1 65815818 65815818 single base substitution C T intron_variant MELA-AU 1 65815912 65815912 single base substitution G A intron_variant MELA-AU 1 65816109 65816109 single base substitution C T intron_variant MELA-AU 1 65816404 65816404 single base substitution C T intron_variant MELA-AU 1 65816682 65816682 single base substitution C T intron_variant MELA-AU 1 65816988 65816988 single base substitution T A intron_variant MELA-AU 1 65817159 65817159 single base substitution C A intron_variant MELA-AU 1 65817266 65817266 single base substitution G A intron_variant MELA-AU 1 65817269 65817270 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 65817682 65817682 single base substitution C T intron_variant MELA-AU 1 65818659 65818659 single base substitution C T intron_variant MELA-AU 1 65819192 65819192 single base substitution G A intron_variant MELA-AU 1 65819492 65819492 single base substitution A G intron_variant MELA-AU 1 65819548 65819548 single base substitution G A intron_variant MELA-AU 1 65819635 65819635 single base substitution C T intron_variant MELA-AU 1 65820044 65820044 single base substitution C T intron_variant MELA-AU 1 65820149 65820149 single base substitution G A intron_variant MELA-AU 1 65820247 65820247 single base substitution G A intron_variant MELA-AU 1 65820760 65820760 single base substitution G A intron_variant MELA-AU 1 65820982 65820982 single base substitution C T intron_variant MELA-AU 1 65821554 65821554 single base substitution G A intron_variant MELA-AU 1 65822066 65822066 single base substitution G A intron_variant MELA-AU 1 65822749 65822749 single base substitution G A intron_variant MELA-AU 1 65823042 65823042 single base substitution G A intron_variant MELA-AU 1 65823226 65823226 single base substitution C T intron_variant MELA-AU 1 65823333 65823333 single base substitution C T intron_variant MELA-AU 1 65823745 65823745 single base substitution C T intron_variant MELA-AU 1 65824314 65824314 single base substitution G A intron_variant MELA-AU 1 65824507 65824507 single base substitution A G intron_variant MELA-AU 1 65824529 65824529 single base substitution T C intron_variant MELA-AU 1 65824540 65824540 single base substitution C T intron_variant MELA-AU 1 65824860 65824860 single base substitution C T intron_variant MELA-AU 1 65825041 65825041 single base substitution C T intron_variant MELA-AU 1 65825657 65825657 single base substitution C T intron_variant MELA-AU 1 65825714 65825714 single base substitution C T intron_variant MELA-AU 1 65825964 65825964 single base substitution A T intron_variant MELA-AU 1 65826927 65826927 single base substitution G A intron_variant MELA-AU 1 65826927 65826927 single base substitution G A upstream_gene_variant MELA-AU 1 65827051 65827051 single base substitution G A intron_variant MELA-AU 1 65827051 65827051 single base substitution G A upstream_gene_variant MELA-AU 1 65827561 65827561 single base substitution C T intron_variant MELA-AU 1 65827561 65827561 single base substitution C T upstream_gene_variant MELA-AU 1 65828844 65828844 single base substitution C T intron_variant MELA-AU 1 65828844 65828844 single base substitution C T upstream_gene_variant MELA-AU 1 65829451 65829451 single base substitution C T intron_variant MELA-AU 1 65829451 65829451 single base substitution C T upstream_gene_variant MELA-AU 1 65829595 65829596 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 65829595 65829596 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 1 65829951 65829951 single base substitution T C intron_variant MELA-AU 1 65829951 65829951 single base substitution T C upstream_gene_variant MELA-AU 1 65830166 65830166 single base substitution A G intron_variant MELA-AU 1 65830166 65830166 single base substitution A G upstream_gene_variant MELA-AU 1 65830261 65830261 single base substitution C T intron_variant MELA-AU 1 65830261 65830261 single base substitution C T upstream_gene_variant MELA-AU 1 65830504 65830504 single base substitution C T downstream_gene_variant MELA-AU 1 65830504 65830504 single base substitution C T intron_variant MELA-AU 1 65830504 65830504 single base substitution C T upstream_gene_variant MELA-AU 1 65830804 65830804 single base substitution C T downstream_gene_variant MELA-AU 1 65830804 65830804 single base substitution C T intron_variant MELA-AU 1 65830804 65830804 single base substitution C T upstream_gene_variant MELA-AU 1 65830984 65830984 single base substitution C T downstream_gene_variant MELA-AU 1 65830984 65830984 single base substitution C T intron_variant MELA-AU 1 65830984 65830984 single base substitution C T upstream_gene_variant MELA-AU 1 65831214 65831214 single base substitution C T downstream_gene_variant MELA-AU 1 65831214 65831214 single base substitution C T intron_variant MELA-AU 1 65831214 65831214 single base substitution C T upstream_gene_variant MELA-AU 1 65831385 65831385 single base substitution C T downstream_gene_variant MELA-AU 1 65831385 65831385 single base substitution C T intron_variant MELA-AU 1 65831385 65831385 single base substitution C T upstream_gene_variant MELA-AU 1 65831659 65831659 single base substitution C T downstream_gene_variant MELA-AU 1 65831659 65831659 single base substitution C T intron_variant MELA-AU 1 65831659 65831659 single base substitution C T upstream_gene_variant MELA-AU 1 65831711 65831711 single base substitution C T downstream_gene_variant MELA-AU 1 65831711 65831711 single base substitution C T intron_variant MELA-AU 1 65831711 65831711 single base substitution C T upstream_gene_variant MELA-AU 1 65831726 65831726 single base substitution C T downstream_gene_variant MELA-AU 1 65831726 65831726 single base substitution C T intron_variant MELA-AU 1 65831726 65831726 single base substitution C T splice_region_variant MELA-AU 1 65831726 65831726 single base substitution C T upstream_gene_variant MELA-AU 1 65831903 65831903 single base substitution C T downstream_gene_variant MELA-AU 1 65831903 65831903 single base substitution C T intron_variant MELA-AU 1 65832054 65832054 single base substitution C T downstream_gene_variant MELA-AU 1 65832054 65832054 single base substitution C T intron_variant MELA-AU 1 65832844 65832844 single base substitution G A downstream_gene_variant MELA-AU 1 65832844 65832844 single base substitution G A intron_variant MELA-AU 1 65833230 65833230 single base substitution C T downstream_gene_variant MELA-AU 1 65833230 65833230 single base substitution C T intron_variant MELA-AU 1 65833691 65833691 single base substitution C T downstream_gene_variant MELA-AU 1 65833691 65833691 single base substitution C T intron_variant MELA-AU 1 65833901 65833901 single base substitution C T downstream_gene_variant MELA-AU 1 65833901 65833901 single base substitution C T intron_variant MELA-AU 1 65834202 65834202 single base substitution C T downstream_gene_variant MELA-AU 1 65834202 65834202 single base substitution C T intron_variant MELA-AU 1 65834287 65834287 single base substitution T C downstream_gene_variant MELA-AU 1 65834287 65834287 single base substitution T C intron_variant MELA-AU 1 65834352 65834352 single base substitution C T downstream_gene_variant MELA-AU 1 65834352 65834352 single base substitution C T intron_variant MELA-AU 1 65834412 65834412 single base substitution T C downstream_gene_variant MELA-AU 1 65834412 65834412 single base substitution T C intron_variant MELA-AU 1 65834916 65834916 single base substitution C T downstream_gene_variant MELA-AU 1 65834916 65834916 single base substitution C T intron_variant MELA-AU 1 65835333 65835333 single base substitution A T downstream_gene_variant MELA-AU 1 65835333 65835333 single base substitution A T intron_variant MELA-AU 1 65835337 65835337 single base substitution G A downstream_gene_variant MELA-AU 1 65835337 65835337 single base substitution G A intron_variant MELA-AU 1 65835670 65835670 single base substitution G A downstream_gene_variant MELA-AU 1 65835670 65835670 single base substitution G A intron_variant MELA-AU 1 65835899 65835899 single base substitution A C downstream_gene_variant MELA-AU 1 65835899 65835899 single base substitution A C intron_variant MELA-AU 1 65835915 65835915 single base substitution C T downstream_gene_variant MELA-AU 1 65835915 65835915 single base substitution C T intron_variant MELA-AU 1 65835916 65835916 single base substitution C T downstream_gene_variant MELA-AU 1 65835916 65835916 single base substitution C T intron_variant MELA-AU 1 65836297 65836297 single base substitution C T downstream_gene_variant MELA-AU 1 65836297 65836297 single base substitution C T intron_variant MELA-AU 1 65836342 65836342 single base substitution C T downstream_gene_variant MELA-AU 1 65836342 65836342 single base substitution C T intron_variant MELA-AU 1 65836448 65836448 single base substitution A T downstream_gene_variant MELA-AU 1 65836448 65836448 single base substitution A T intron_variant MELA-AU 1 65836490 65836490 single base substitution A T downstream_gene_variant MELA-AU 1 65836490 65836490 single base substitution A T intron_variant MELA-AU 1 65837217 65837217 single base substitution C T intron_variant MELA-AU 1 65837335 65837335 single base substitution G A intron_variant MELA-AU 1 65837397 65837397 single base substitution C T intron_variant MELA-AU 1 65837573 65837574 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 65838398 65838398 single base substitution G A intron_variant MELA-AU 1 65838817 65838817 single base substitution G A intron_variant MELA-AU 1 65838985 65838985 single base substitution C T intron_variant MELA-AU 1 65839398 65839398 single base substitution C T intron_variant MELA-AU 1 65839428 65839428 single base substitution C T intron_variant MELA-AU 1 65839613 65839613 single base substitution T C intron_variant MELA-AU 1 65839730 65839730 single base substitution C T intron_variant MELA-AU 1 65840244 65840244 single base substitution C T intron_variant MELA-AU 1 65840355 65840355 deletion of <=200bp T - intron_variant MELA-AU 1 65840406 65840406 single base substitution C T intron_variant MELA-AU 1 65840435 65840435 single base substitution C T intron_variant MELA-AU 1 65840798 65840798 single base substitution C T intron_variant MELA-AU 1 65841121 65841121 single base substitution T A intron_variant MELA-AU 1 65841331 65841331 single base substitution G A intron_variant MELA-AU 1 65841506 65841506 single base substitution C T intron_variant MELA-AU 1 65841690 65841690 single base substitution C T intron_variant MELA-AU 1 65841695 65841695 single base substitution A T intron_variant MELA-AU 1 65841961 65841961 single base substitution C T intron_variant MELA-AU 1 65842037 65842037 single base substitution G A intron_variant MELA-AU 1 65842059 65842059 single base substitution C T intron_variant MELA-AU 1 65842099 65842099 single base substitution C T intron_variant MELA-AU 1 65842191 65842191 single base substitution C T intron_variant MELA-AU 1 65842393 65842393 single base substitution T C intron_variant MELA-AU 1 65842429 65842429 single base substitution T C intron_variant MELA-AU 1 65842454 65842455 multiple base substitution (>=2bp and <=200bp) TA AT intron_variant MELA-AU 1 65842479 65842479 single base substitution G C intron_variant MELA-AU 1 65842684 65842684 single base substitution G A intron_variant MELA-AU 1 65842705 65842705 single base substitution C T intron_variant MELA-AU 1 65843088 65843088 single base substitution G A intron_variant MELA-AU 1 65843141 65843141 single base substitution G A intron_variant MELA-AU 1 65843324 65843324 single base substitution T C intron_variant MELA-AU 1 65843498 65843498 single base substitution C T intron_variant MELA-AU 1 65843595 65843595 single base substitution C G intron_variant MELA-AU 1 65844729 65844729 single base substitution C T intron_variant MELA-AU 1 65844880 65844880 single base substitution C T intron_variant MELA-AU 1 65844880 65844880 single base substitution C T upstream_gene_variant MELA-AU 1 65845469 65845469 single base substitution G A exon_variant MELA-AU 1 65845469 65845469 single base substitution G A intron_variant MELA-AU 1 65845469 65845469 single base substitution G A upstream_gene_variant MELA-AU 1 65846366 65846366 single base substitution G A downstream_gene_variant MELA-AU 1 65846366 65846366 single base substitution G A intron_variant MELA-AU 1 65846366 65846366 single base substitution G A upstream_gene_variant MELA-AU 1 65846600 65846600 single base substitution T G downstream_gene_variant MELA-AU 1 65846600 65846600 single base substitution T G intron_variant MELA-AU 1 65846600 65846600 single base substitution T G upstream_gene_variant MELA-AU 1 65846670 65846670 single base substitution C T downstream_gene_variant MELA-AU 1 65846670 65846670 single base substitution C T intron_variant MELA-AU 1 65846670 65846670 single base substitution C T upstream_gene_variant MELA-AU 1 65846718 65846718 single base substitution C T downstream_gene_variant MELA-AU 1 65846718 65846718 single base substitution C T intron_variant MELA-AU 1 65846718 65846718 single base substitution C T upstream_gene_variant MELA-AU 1 65846846 65846846 single base substitution C T downstream_gene_variant MELA-AU 1 65846846 65846846 single base substitution C T intron_variant MELA-AU 1 65846846 65846846 single base substitution C T upstream_gene_variant MELA-AU 1 65846897 65846897 single base substitution C T downstream_gene_variant MELA-AU 1 65846897 65846897 single base substitution C T intron_variant MELA-AU 1 65846897 65846897 single base substitution C T upstream_gene_variant MELA-AU 1 65847670 65847670 single base substitution C T downstream_gene_variant MELA-AU 1 65847670 65847670 single base substitution C T intron_variant MELA-AU 1 65847670 65847670 single base substitution C T upstream_gene_variant MELA-AU 1 65847799 65847799 single base substitution A C downstream_gene_variant MELA-AU 1 65847799 65847799 single base substitution A C intron_variant MELA-AU 1 65847799 65847799 single base substitution A C upstream_gene_variant MELA-AU 1 65849016 65849016 single base substitution C T downstream_gene_variant MELA-AU 1 65849016 65849016 single base substitution C T intron_variant MELA-AU 1 65849016 65849016 single base substitution C T upstream_gene_variant MELA-AU 1 65849301 65849301 single base substitution C T downstream_gene_variant MELA-AU 1 65849301 65849301 single base substitution C T intron_variant MELA-AU 1 65849301 65849301 single base substitution C T upstream_gene_variant MELA-AU 1 65849461 65849461 single base substitution G A downstream_gene_variant MELA-AU 1 65849461 65849461 single base substitution G A intron_variant MELA-AU 1 65849461 65849461 single base substitution G A upstream_gene_variant MELA-AU 1 65849537 65849537 single base substitution C T downstream_gene_variant MELA-AU 1 65849537 65849537 single base substitution C T intron_variant MELA-AU 1 65849537 65849537 single base substitution C T upstream_gene_variant MELA-AU 1 65849760 65849761 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 1 65849760 65849761 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 65849760 65849761 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 1 65849770 65849770 single base substitution G A downstream_gene_variant MELA-AU 1 65849770 65849770 single base substitution G A exon_variant MELA-AU 1 65849770 65849770 single base substitution G A intron_variant MELA-AU 1 65849887 65849887 single base substitution G A downstream_gene_variant MELA-AU 1 65849887 65849887 single base substitution G A exon_variant MELA-AU 1 65849887 65849887 single base substitution G A synonymous_variant A156A 468G>A MELA-AU 1 65849887 65849887 single base substitution G A synonymous_variant A169A 507G>A MELA-AU 1 65849887 65849887 single base substitution G A synonymous_variant A200A 600G>A MELA-AU 1 65849887 65849887 single base substitution G A synonymous_variant A226A 678G>A MELA-AU 1 65850002 65850002 single base substitution C T downstream_gene_variant MELA-AU 1 65850002 65850002 single base substitution C T exon_variant MELA-AU 1 65850002 65850002 single base substitution C T missense_variant H195Y 583C>T MELA-AU 1 65850002 65850002 single base substitution C T missense_variant H208Y 622C>T MELA-AU 1 65850002 65850002 single base substitution C T missense_variant H239Y 715C>T MELA-AU 1 65850002 65850002 single base substitution C T missense_variant H265Y 793C>T MELA-AU 1 65850103 65850103 single base substitution C T downstream_gene_variant MELA-AU 1 65850103 65850103 single base substitution C T intron_variant MELA-AU 1 65850399 65850399 single base substitution G A downstream_gene_variant MELA-AU 1 65850399 65850399 single base substitution G A intron_variant MELA-AU 1 65851229 65851229 single base substitution C T intron_variant MELA-AU 1 65851648 65851648 single base substitution G A intron_variant MELA-AU 1 65852028 65852028 single base substitution G A intron_variant MELA-AU 1 65852083 65852083 single base substitution G A intron_variant MELA-AU 1 65852632 65852632 single base substitution C T intron_variant MELA-AU 1 65852762 65852762 single base substitution C T intron_variant MELA-AU 1 65853252 65853252 single base substitution C T intron_variant MELA-AU 1 65853548 65853548 single base substitution C T intron_variant MELA-AU 1 65853578 65853578 single base substitution C T intron_variant MELA-AU 1 65853579 65853579 single base substitution C T intron_variant MELA-AU 1 65854431 65854431 single base substitution C T downstream_gene_variant MELA-AU 1 65854431 65854431 single base substitution C T intron_variant MELA-AU 1 65855300 65855300 single base substitution C T downstream_gene_variant MELA-AU 1 65855300 65855300 single base substitution C T synonymous_variant L416L 1248C>T MELA-AU 1 65855300 65855300 single base substitution C T synonymous_variant L429L 1287C>T MELA-AU 1 65855300 65855300 single base substitution C T synonymous_variant L460L 1380C>T MELA-AU 1 65855300 65855300 single base substitution C T synonymous_variant L486L 1458C>T MELA-AU 1 65855578 65855579 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 1 65855578 65855579 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 65855604 65855604 single base substitution G A downstream_gene_variant MELA-AU 1 65855604 65855604 single base substitution G A intron_variant MELA-AU 1 65855618 65855618 single base substitution C T downstream_gene_variant MELA-AU 1 65855618 65855618 single base substitution C T intron_variant MELA-AU 1 65855718 65855718 single base substitution C T downstream_gene_variant MELA-AU 1 65855718 65855718 single base substitution C T intron_variant MELA-AU 1 65855949 65855949 single base substitution C T downstream_gene_variant MELA-AU 1 65855949 65855949 single base substitution C T intron_variant MELA-AU 1 65856031 65856031 single base substitution A G downstream_gene_variant MELA-AU 1 65856031 65856031 single base substitution A G intron_variant MELA-AU 1 65856264 65856264 single base substitution T C downstream_gene_variant MELA-AU 1 65856264 65856264 single base substitution T C intron_variant MELA-AU 1 65856401 65856401 single base substitution C T downstream_gene_variant MELA-AU 1 65856401 65856401 single base substitution C T intron_variant MELA-AU 1 65856442 65856442 single base substitution C T downstream_gene_variant MELA-AU 1 65856442 65856442 single base substitution C T intron_variant MELA-AU 1 65856609 65856609 single base substitution C T downstream_gene_variant MELA-AU 1 65856609 65856609 single base substitution C T intron_variant MELA-AU 1 65856821 65856821 single base substitution C T downstream_gene_variant MELA-AU 1 65856821 65856821 single base substitution C T intron_variant MELA-AU 1 65856927 65856927 single base substitution C T downstream_gene_variant MELA-AU 1 65856927 65856927 single base substitution C T intron_variant MELA-AU 1 65856966 65856966 single base substitution C T downstream_gene_variant MELA-AU 1 65856966 65856966 single base substitution C T intron_variant MELA-AU 1 65857116 65857116 single base substitution G A downstream_gene_variant MELA-AU 1 65857116 65857116 single base substitution G A intron_variant MELA-AU 1 65857233 65857233 single base substitution C T downstream_gene_variant MELA-AU 1 65857233 65857233 single base substitution C T intron_variant MELA-AU 1 65857747 65857747 single base substitution C T downstream_gene_variant MELA-AU 1 65857747 65857747 single base substitution C T intron_variant MELA-AU 1 65857897 65857897 single base substitution C T downstream_gene_variant MELA-AU 1 65857897 65857897 single base substitution C T intron_variant MELA-AU 1 65858274 65858274 single base substitution G A downstream_gene_variant MELA-AU 1 65858274 65858274 single base substitution G A synonymous_variant Q473Q 1419G>A MELA-AU 1 65858274 65858274 single base substitution G A synonymous_variant Q486Q 1458G>A MELA-AU 1 65858274 65858274 single base substitution G A synonymous_variant Q543Q 1629G>A MELA-AU 1 65858525 65858525 single base substitution C T downstream_gene_variant MELA-AU 1 65858525 65858525 single base substitution C T missense_variant S557F 1670C>T MELA-AU 1 65858525 65858525 single base substitution C T missense_variant S570F 1709C>T MELA-AU 1 65858525 65858525 single base substitution C T missense_variant S627F 1880C>T MELA-AU 1 65858663 65858663 single base substitution C T downstream_gene_variant MELA-AU 1 65858663 65858663 single base substitution C T intron_variant MELA-AU 1 65859554 65859554 single base substitution A T downstream_gene_variant MELA-AU 1 65859554 65859554 single base substitution A T intron_variant MELA-AU 1 65859560 65859560 single base substitution C T downstream_gene_variant MELA-AU 1 65859560 65859560 single base substitution C T intron_variant MELA-AU 1 65860277 65860277 single base substitution G A downstream_gene_variant MELA-AU 1 65860277 65860277 single base substitution G A intron_variant MELA-AU 1 65860315 65860315 single base substitution C T downstream_gene_variant MELA-AU 1 65860315 65860315 single base substitution C T intron_variant MELA-AU 1 65860520 65860520 single base substitution C T downstream_gene_variant MELA-AU 1 65860520 65860520 single base substitution C T intron_variant MELA-AU 1 65860567 65860567 single base substitution C T downstream_gene_variant MELA-AU 1 65860567 65860567 single base substitution C T intron_variant MELA-AU 1 65861069 65861069 single base substitution A T downstream_gene_variant MELA-AU 1 65861069 65861069 single base substitution A T intron_variant MELA-AU 1 65861179 65861179 single base substitution T G downstream_gene_variant MELA-AU 1 65861179 65861179 single base substitution T G intron_variant MELA-AU 1 65861606 65861606 single base substitution C T downstream_gene_variant MELA-AU 1 65861606 65861606 single base substitution C T intron_variant MELA-AU 1 65861878 65861878 single base substitution C T downstream_gene_variant MELA-AU 1 65861878 65861878 single base substitution C T intron_variant MELA-AU 1 65862032 65862032 single base substitution C T downstream_gene_variant MELA-AU 1 65862032 65862032 single base substitution C T intron_variant MELA-AU 1 65862362 65862362 single base substitution C G downstream_gene_variant MELA-AU 1 65862362 65862362 single base substitution C G intron_variant MELA-AU 1 65862780 65862780 single base substitution C T downstream_gene_variant MELA-AU 1 65862780 65862780 single base substitution C T intron_variant MELA-AU 1 65862852 65862852 single base substitution C G downstream_gene_variant MELA-AU 1 65862852 65862852 single base substitution C G intron_variant MELA-AU 1 65863009 65863009 single base substitution G A downstream_gene_variant MELA-AU 1 65863009 65863009 single base substitution G A intron_variant MELA-AU 1 65863177 65863177 single base substitution C T downstream_gene_variant MELA-AU 1 65863177 65863177 single base substitution C T intron_variant MELA-AU 1 65863711 65863711 single base substitution G A intron_variant MELA-AU 1 65863859 65863859 single base substitution C T intron_variant MELA-AU 1 65863866 65863866 single base substitution A G intron_variant MELA-AU 1 65864085 65864085 single base substitution C T intron_variant MELA-AU 1 65864108 65864108 single base substitution A G intron_variant MELA-AU 1 65864376 65864376 single base substitution C T intron_variant MELA-AU 1 65864708 65864708 single base substitution G A intron_variant MELA-AU 1 65865006 65865006 single base substitution C T intron_variant MELA-AU 1 65865403 65865403 single base substitution C T intron_variant MELA-AU 1 65866320 65866320 single base substitution C T intron_variant MELA-AU 1 65866892 65866892 single base substitution T G intron_variant MELA-AU 1 65867265 65867265 single base substitution C A intron_variant MELA-AU 1 65867279 65867279 single base substitution C T intron_variant MELA-AU 1 65867367 65867367 single base substitution G A intron_variant MELA-AU 1 65867492 65867492 single base substitution C T missense_variant S649F 1946C>T MELA-AU 1 65867492 65867492 single base substitution C T missense_variant S662F 1985C>T MELA-AU 1 65867492 65867492 single base substitution C T missense_variant S719F 2156C>T MELA-AU 1 65867874 65867874 single base substitution G A intron_variant MELA-AU 1 65867878 65867878 single base substitution C T intron_variant MELA-AU 1 65868056 65868056 single base substitution C T intron_variant MELA-AU 1 65868273 65868273 single base substitution C T intron_variant MELA-AU 1 65869217 65869217 single base substitution T C intron_variant MELA-AU 1 65869319 65869319 single base substitution C T intron_variant MELA-AU 1 65869781 65869781 single base substitution T A intron_variant MELA-AU 1 65870428 65870428 single base substitution G A intron_variant MELA-AU 1 65871031 65871031 single base substitution G T intron_variant MELA-AU 1 65871103 65871103 single base substitution G A intron_variant MELA-AU 1 65871239 65871239 single base substitution G A intron_variant MELA-AU 1 65871562 65871562 single base substitution C T missense_variant S676F 2027C>T MELA-AU 1 65871562 65871562 single base substitution C T missense_variant S689F 2066C>T MELA-AU 1 65871562 65871562 single base substitution C T missense_variant S746F 2237C>T MELA-AU 1 65871609 65871609 single base substitution C T missense_variant P692S 2074C>T MELA-AU 1 65871609 65871609 single base substitution C T missense_variant P705S 2113C>T MELA-AU 1 65871609 65871609 single base substitution C T missense_variant P762S 2284C>T MELA-AU 1 65872214 65872214 single base substitution C T intron_variant MELA-AU 1 65872635 65872635 single base substitution C T intron_variant MELA-AU 1 65872778 65872778 single base substitution C T intron_variant MELA-AU 1 65873144 65873144 single base substitution G A intron_variant MELA-AU 1 65873159 65873159 single base substitution C T intron_variant MELA-AU 1 65873696 65873696 single base substitution C T intron_variant MELA-AU 1 65873733 65873733 single base substitution G C intron_variant MELA-AU 1 65873746 65873746 single base substitution A C intron_variant MELA-AU 1 65874213 65874213 single base substitution G A intron_variant MELA-AU 1 65874428 65874428 single base substitution G A missense_variant E796K 2386G>A MELA-AU 1 65874428 65874428 single base substitution G A missense_variant E809K 2425G>A MELA-AU 1 65874428 65874428 single base substitution G A missense_variant E866K 2596G>A MELA-AU 1 65874465 65874465 single base substitution A G missense_variant K808R 2423A>G MELA-AU 1 65874465 65874465 single base substitution A G missense_variant K821R 2462A>G MELA-AU 1 65874465 65874465 single base substitution A G missense_variant K878R 2633A>G MELA-AU 1 65874498 65874498 single base substitution C T intron_variant MELA-AU 1 65875386 65875386 single base substitution G A intron_variant MELA-AU 1 65875415 65875415 single base substitution C T intron_variant MELA-AU 1 65875643 65875643 single base substitution C T intron_variant MELA-AU 1 65875731 65875731 single base substitution A C intron_variant MELA-AU 1 65875837 65875837 single base substitution G A intron_variant MELA-AU 1 65876032 65876032 single base substitution C T intron_variant MELA-AU 1 65876887 65876887 single base substitution C T intron_variant MELA-AU 1 65876976 65876976 single base substitution T A missense_variant L823H 2468T>A MELA-AU 1 65876976 65876976 single base substitution T A missense_variant L836H 2507T>A MELA-AU 1 65876976 65876976 single base substitution T A missense_variant L893H 2678T>A MELA-AU 1 65877284 65877284 single base substitution G A intron_variant MELA-AU 1 65877399 65877399 single base substitution C T intron_variant MELA-AU 1 65877437 65877437 single base substitution G A intron_variant MELA-AU 1 65878055 65878055 single base substitution G A intron_variant MELA-AU 1 65878278 65878278 single base substitution A G intron_variant MELA-AU 1 65878999 65878999 single base substitution G A 3_prime_UTR_variant MELA-AU 1 65878999 65878999 single base substitution G A downstream_gene_variant MELA-AU 1 65879014 65879015 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 1 65879014 65879015 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 1 65879876 65879876 single base substitution C T 3_prime_UTR_variant MELA-AU 1 65879876 65879876 single base substitution C T downstream_gene_variant MELA-AU 1 65880756 65880756 single base substitution C T 3_prime_UTR_variant MELA-AU 1 65880756 65880756 single base substitution C T downstream_gene_variant MELA-AU 1 65882030 65882030 single base substitution C T downstream_gene_variant MELA-AU 1 65882137 65882137 single base substitution C T downstream_gene_variant MELA-AU 1 65882506 65882506 single base substitution C T downstream_gene_variant MELA-AU 1 65883027 65883027 single base substitution G A downstream_gene_variant MELA-AU 1 65883538 65883538 single base substitution C T downstream_gene_variant MELA-AU 1 65883680 65883680 single base substitution C T downstream_gene_variant MELA-AU 1 65883892 65883892 single base substitution C T downstream_gene_variant MELA-AU 1 65884007 65884007 single base substitution G A downstream_gene_variant MELA-AU 1 65884271 65884271 single base substitution C T downstream_gene_variant MELA-AU 1 65884704 65884704 single base substitution A T downstream_gene_variant ORCA-IN 1 65741761 65741761 single base substitution C T intron_variant ORCA-IN 1 65750927 65750927 single base substitution G A intron_variant ORCA-IN 1 65801859 65801859 single base substitution G A intron_variant ORCA-IN 1 65840759 65840759 single base substitution G C intron_variant ORCA-IN 1 65870431 65870431 single base substitution G C intron_variant OV-AU 1 65711124 65711124 single base substitution C G upstream_gene_variant OV-AU 1 65719362 65719362 single base substitution A T intron_variant OV-AU 1 65719362 65719362 single base substitution A T upstream_gene_variant OV-AU 1 65725227 65725227 single base substitution T C intron_variant OV-AU 1 65728577 65728577 single base substitution C T intron_variant OV-AU 1 65728577 65728577 single base substitution C T upstream_gene_variant OV-AU 1 65733565 65733565 single base substitution G C intron_variant OV-AU 1 65736295 65736295 single base substitution A T intron_variant OV-AU 1 65746455 65746455 single base substitution T G intron_variant OV-AU 1 65746611 65746611 single base substitution C G intron_variant OV-AU 1 65753983 65753983 single base substitution C G intron_variant OV-AU 1 65754874 65754874 single base substitution C T intron_variant OV-AU 1 65754875 65754875 single base substitution A C intron_variant OV-AU 1 65758490 65758490 single base substitution A G intron_variant OV-AU 1 65758686 65758686 single base substitution G C intron_variant OV-AU 1 65762400 65762400 single base substitution G T intron_variant OV-AU 1 65764407 65764407 single base substitution C A intron_variant OV-AU 1 65764408 65764408 single base substitution C A intron_variant OV-AU 1 65765314 65765314 single base substitution G T intron_variant OV-AU 1 65772427 65772427 single base substitution C G intron_variant OV-AU 1 65772427 65772427 single base substitution C G upstream_gene_variant OV-AU 1 65773163 65773163 single base substitution G C intron_variant OV-AU 1 65773163 65773163 single base substitution G C upstream_gene_variant OV-AU 1 65775369 65775369 single base substitution C G 5_prime_UTR_variant OV-AU 1 65775369 65775369 single base substitution C G intron_variant OV-AU 1 65776201 65776201 single base substitution A G intron_variant OV-AU 1 65778469 65778469 single base substitution G C intron_variant OV-AU 1 65782341 65782341 single base substitution T A intron_variant OV-AU 1 65784043 65784043 single base substitution G T intron_variant OV-AU 1 65787891 65787891 single base substitution C G intron_variant OV-AU 1 65791155 65791155 single base substitution T C intron_variant OV-AU 1 65793237 65793237 single base substitution T C intron_variant OV-AU 1 65795411 65795411 single base substitution C G intron_variant OV-AU 1 65797096 65797096 single base substitution T C intron_variant OV-AU 1 65799002 65799002 single base substitution C T intron_variant OV-AU 1 65810186 65810186 single base substitution G C intron_variant OV-AU 1 65812427 65812427 single base substitution C G intron_variant OV-AU 1 65812953 65812953 single base substitution T A intron_variant OV-AU 1 65813470 65813470 single base substitution G T intron_variant OV-AU 1 65819040 65819040 single base substitution T C intron_variant OV-AU 1 65820845 65820845 single base substitution T G intron_variant OV-AU 1 65824010 65824010 single base substitution G C intron_variant OV-AU 1 65828145 65828145 single base substitution G C intron_variant OV-AU 1 65828145 65828145 single base substitution G C upstream_gene_variant OV-AU 1 65831436 65831436 single base substitution A G downstream_gene_variant OV-AU 1 65831436 65831436 single base substitution A G intron_variant OV-AU 1 65831436 65831436 single base substitution A G upstream_gene_variant OV-AU 1 65831965 65831965 single base substitution T C downstream_gene_variant OV-AU 1 65831965 65831965 single base substitution T C intron_variant OV-AU 1 65840459 65840459 single base substitution T G intron_variant OV-AU 1 65842611 65842611 single base substitution C A intron_variant OV-AU 1 65843373 65843373 single base substitution A G intron_variant OV-AU 1 65850199 65850199 single base substitution A C downstream_gene_variant OV-AU 1 65850199 65850199 single base substitution A C intron_variant OV-AU 1 65850416 65850416 single base substitution C T downstream_gene_variant OV-AU 1 65850416 65850416 single base substitution C T intron_variant OV-AU 1 65852803 65852803 single base substitution T G intron_variant OV-AU 1 65857391 65857391 single base substitution G T downstream_gene_variant OV-AU 1 65857391 65857391 single base substitution G T intron_variant OV-AU 1 65860361 65860361 single base substitution G A downstream_gene_variant OV-AU 1 65860361 65860361 single base substitution G A intron_variant OV-AU 1 65862457 65862457 single base substitution T C downstream_gene_variant OV-AU 1 65862457 65862457 single base substitution T C intron_variant OV-AU 1 65862463 65862463 single base substitution A G downstream_gene_variant OV-AU 1 65862463 65862463 single base substitution A G intron_variant OV-AU 1 65870186 65870186 single base substitution A G intron_variant OV-AU 1 65871154 65871154 single base substitution T G intron_variant OV-AU 1 65873676 65873676 single base substitution C A intron_variant OV-AU 1 65874217 65874217 single base substitution T G intron_variant OV-AU 1 65874266 65874266 single base substitution G A intron_variant OV-AU 1 65875280 65875280 single base substitution A C intron_variant OV-AU 1 65878780 65878780 single base substitution G A 3_prime_UTR_variant OV-AU 1 65878849 65878849 single base substitution C G 3_prime_UTR_variant OV-AU 1 65881060 65881060 single base substitution A G 3_prime_UTR_variant OV-AU 1 65881060 65881060 single base substitution A G downstream_gene_variant OV-AU 1 65884109 65884109 single base substitution A T downstream_gene_variant OV-US 1 65855051 65855051 single base substitution G T downstream_gene_variant OV-US 1 65855051 65855051 single base substitution G T stop_gained E366* 1096G>T OV-US 1 65855051 65855051 single base substitution G T stop_gained E379* 1135G>T OV-US 1 65855051 65855051 single base substitution G T stop_gained E410* 1228G>T OV-US 1 65855051 65855051 single base substitution G T stop_gained E436* 1306G>T PACA-AU 1 65710164 65710164 single base substitution C T upstream_gene_variant PACA-AU 1 65711978 65711978 single base substitution G A upstream_gene_variant PACA-AU 1 65715727 65715727 single base substitution G A intron_variant PACA-AU 1 65715727 65715727 single base substitution G A upstream_gene_variant PACA-AU 1 65719341 65719341 single base substitution G A intron_variant PACA-AU 1 65719341 65719341 single base substitution G A upstream_gene_variant PACA-AU 1 65722911 65722923 deletion of <=200bp CCAGGGCTCATTG - intron_variant PACA-AU 1 65724078 65724078 single base substitution C A intron_variant PACA-AU 1 65729228 65729228 single base substitution G A intron_variant PACA-AU 1 65729228 65729228 single base substitution G A upstream_gene_variant PACA-AU 1 65733242 65733242 single base substitution G A intron_variant PACA-AU 1 65738350 65738350 single base substitution T G intron_variant PACA-AU 1 65745662 65745662 deletion of <=200bp C - intron_variant PACA-AU 1 65751514 65751514 single base substitution C A intron_variant PACA-AU 1 65751891 65751891 single base substitution T C intron_variant PACA-AU 1 65752299 65752299 single base substitution G A intron_variant PACA-AU 1 65754483 65754483 single base substitution T A intron_variant PACA-AU 1 65754582 65754582 insertion of <=200bp - T intron_variant PACA-AU 1 65754585 65754585 single base substitution T A intron_variant PACA-AU 1 65756029 65756029 single base substitution G A intron_variant PACA-AU 1 65757589 65757589 single base substitution G A intron_variant PACA-AU 1 65757795 65757795 single base substitution G T intron_variant PACA-AU 1 65758641 65758641 single base substitution G A intron_variant PACA-AU 1 65765660 65765660 single base substitution G A intron_variant PACA-AU 1 65765742 65765742 single base substitution A G intron_variant PACA-AU 1 65766685 65766685 single base substitution C T intron_variant PACA-AU 1 65767192 65767192 single base substitution G A intron_variant PACA-AU 1 65767790 65767790 single base substitution A T intron_variant PACA-AU 1 65775760 65775760 single base substitution C A intron_variant PACA-AU 1 65777761 65777761 single base substitution T C intron_variant PACA-AU 1 65780589 65780589 single base substitution A G intron_variant PACA-AU 1 65782004 65782004 single base substitution C A intron_variant PACA-AU 1 65787767 65787767 single base substitution A T intron_variant PACA-AU 1 65791986 65791986 single base substitution G T intron_variant PACA-AU 1 65792932 65792932 single base substitution C T intron_variant PACA-AU 1 65793945 65793945 single base substitution T G intron_variant PACA-AU 1 65800883 65800883 single base substitution C T intron_variant PACA-AU 1 65800921 65800921 single base substitution G T intron_variant PACA-AU 1 65801369 65801376 deletion of <=200bp GCAAAGAC - intron_variant PACA-AU 1 65806167 65806167 single base substitution G A intron_variant PACA-AU 1 65808202 65808202 single base substitution G A intron_variant PACA-AU 1 65809435 65809435 single base substitution G A intron_variant PACA-AU 1 65809437 65809437 single base substitution A G intron_variant PACA-AU 1 65809860 65809860 single base substitution C T intron_variant PACA-AU 1 65810630 65810630 single base substitution C T intron_variant PACA-AU 1 65814574 65814574 single base substitution T C intron_variant PACA-AU 1 65819807 65819807 single base substitution A T intron_variant PACA-AU 1 65820361 65820361 single base substitution C T intron_variant PACA-AU 1 65828804 65828805 deletion of <=200bp TC - intron_variant PACA-AU 1 65828804 65828805 deletion of <=200bp TC - upstream_gene_variant PACA-AU 1 65828905 65828905 single base substitution C T intron_variant PACA-AU 1 65828905 65828905 single base substitution C T upstream_gene_variant PACA-AU 1 65830154 65830154 single base substitution C T intron_variant PACA-AU 1 65830154 65830154 single base substitution C T upstream_gene_variant PACA-AU 1 65830300 65830300 single base substitution T G intron_variant PACA-AU 1 65830300 65830300 single base substitution T G upstream_gene_variant PACA-AU 1 65831876 65831876 single base substitution C A downstream_gene_variant PACA-AU 1 65831876 65831876 single base substitution C A exon_variant PACA-AU 1 65831876 65831876 single base substitution C A missense_variant S110R 330C>A PACA-AU 1 65831876 65831876 single base substitution C A missense_variant S123R 369C>A PACA-AU 1 65831876 65831876 single base substitution C A missense_variant S154R 462C>A PACA-AU 1 65831876 65831876 single base substitution C A missense_variant S180R 540C>A PACA-AU 1 65837953 65837953 single base substitution A T intron_variant PACA-AU 1 65838034 65838034 single base substitution A G intron_variant PACA-AU 1 65843009 65843009 single base substitution T A intron_variant PACA-AU 1 65843625 65843625 single base substitution C T intron_variant PACA-AU 1 65848902 65848902 single base substitution T G downstream_gene_variant PACA-AU 1 65848902 65848902 single base substitution T G intron_variant PACA-AU 1 65848902 65848902 single base substitution T G upstream_gene_variant PACA-AU 1 65853358 65853358 single base substitution T G intron_variant PACA-AU 1 65854504 65854504 single base substitution C A downstream_gene_variant PACA-AU 1 65854504 65854504 single base substitution C A intron_variant PACA-AU 1 65857479 65857479 single base substitution T C downstream_gene_variant PACA-AU 1 65857479 65857479 single base substitution T C intron_variant PACA-AU 1 65858501 65858501 single base substitution G A downstream_gene_variant PACA-AU 1 65858501 65858501 single base substitution G A missense_variant R549H 1646G>A PACA-AU 1 65858501 65858501 single base substitution G A missense_variant R562H 1685G>A PACA-AU 1 65858501 65858501 single base substitution G A missense_variant R619H 1856G>A PACA-AU 1 65862592 65862592 single base substitution T C downstream_gene_variant PACA-AU 1 65862592 65862592 single base substitution T C intron_variant PACA-AU 1 65867540 65867540 single base substitution C A missense_variant P665H 1994C>A PACA-AU 1 65867540 65867540 single base substitution C A missense_variant P678H 2033C>A PACA-AU 1 65867540 65867540 single base substitution C A missense_variant P735H 2204C>A PACA-AU 1 65870297 65870297 single base substitution A C intron_variant PACA-AU 1 65870994 65870994 single base substitution A G intron_variant PACA-AU 1 65877486 65877486 single base substitution C G intron_variant PACA-AU 1 65878134 65878134 single base substitution A G intron_variant PACA-AU 1 65879885 65879885 single base substitution C T 3_prime_UTR_variant PACA-AU 1 65879885 65879885 single base substitution C T downstream_gene_variant PACA-AU 1 65884441 65884441 single base substitution G T downstream_gene_variant PACA-AU 1 65884918 65884918 single base substitution C T downstream_gene_variant PACA-CA 1 65712824 65712824 single base substitution T C upstream_gene_variant PACA-CA 1 65715189 65715189 single base substitution C T intron_variant PACA-CA 1 65715189 65715189 single base substitution C T upstream_gene_variant PACA-CA 1 65715263 65715263 single base substitution C T intron_variant PACA-CA 1 65715263 65715263 single base substitution C T upstream_gene_variant PACA-CA 1 65715755 65715755 single base substitution C T intron_variant PACA-CA 1 65715755 65715755 single base substitution C T upstream_gene_variant PACA-CA 1 65723275 65723275 insertion of <=200bp - A intron_variant PACA-CA 1 65725082 65725082 single base substitution A T intron_variant PACA-CA 1 65730162 65730162 single base substitution A T intron_variant PACA-CA 1 65730162 65730162 single base substitution A T upstream_gene_variant PACA-CA 1 65735976 65735977 deletion of <=200bp TA - intron_variant PACA-CA 1 65745685 65745685 single base substitution T G intron_variant PACA-CA 1 65752140 65752140 single base substitution G C intron_variant PACA-CA 1 65753470 65753470 single base substitution A T intron_variant PACA-CA 1 65755766 65755766 single base substitution T C intron_variant PACA-CA 1 65756028 65756028 single base substitution C T intron_variant PACA-CA 1 65757624 65757624 insertion of <=200bp - T intron_variant PACA-CA 1 65757654 65757654 single base substitution G A intron_variant PACA-CA 1 65757873 65757873 single base substitution G T intron_variant PACA-CA 1 65759506 65759506 single base substitution G A intron_variant PACA-CA 1 65764609 65764609 single base substitution T C intron_variant PACA-CA 1 65766372 65766372 single base substitution C A intron_variant PACA-CA 1 65767007 65767007 insertion of <=200bp - C intron_variant PACA-CA 1 65771048 65771048 single base substitution C G intron_variant PACA-CA 1 65771048 65771048 single base substitution C G upstream_gene_variant PACA-CA 1 65771349 65771349 single base substitution C G intron_variant PACA-CA 1 65771349 65771349 single base substitution C G upstream_gene_variant PACA-CA 1 65771892 65771892 single base substitution G A intron_variant PACA-CA 1 65771892 65771892 single base substitution G A upstream_gene_variant PACA-CA 1 65772012 65772012 insertion of <=200bp - TA intron_variant PACA-CA 1 65772012 65772012 insertion of <=200bp - TA upstream_gene_variant PACA-CA 1 65772565 65772565 single base substitution G A intron_variant PACA-CA 1 65772565 65772565 single base substitution G A upstream_gene_variant PACA-CA 1 65772692 65772703 deletion of <=200bp TCTCTCTCTCTA - intron_variant PACA-CA 1 65772692 65772703 deletion of <=200bp TCTCTCTCTCTA - upstream_gene_variant PACA-CA 1 65772696 65772703 deletion of <=200bp TCTCTCTA - intron_variant PACA-CA 1 65772696 65772703 deletion of <=200bp TCTCTCTA - upstream_gene_variant PACA-CA 1 65772703 65772703 single base substitution A C intron_variant PACA-CA 1 65772703 65772703 single base substitution A C upstream_gene_variant PACA-CA 1 65772705 65772705 single base substitution A C intron_variant PACA-CA 1 65772705 65772705 single base substitution A C upstream_gene_variant PACA-CA 1 65779053 65779053 single base substitution C A intron_variant PACA-CA 1 65779949 65779949 single base substitution G T intron_variant PACA-CA 1 65783912 65783912 single base substitution C T intron_variant PACA-CA 1 65783991 65783991 single base substitution T A intron_variant PACA-CA 1 65784824 65784824 single base substitution G A intron_variant PACA-CA 1 65787928 65787928 single base substitution A G intron_variant PACA-CA 1 65793566 65793566 single base substitution C A intron_variant PACA-CA 1 65797471 65797471 single base substitution T C intron_variant PACA-CA 1 65800330 65800330 single base substitution C T intron_variant PACA-CA 1 65803359 65803359 single base substitution A G intron_variant PACA-CA 1 65804671 65804671 single base substitution G A intron_variant PACA-CA 1 65806601 65806601 single base substitution T A intron_variant PACA-CA 1 65806718 65806718 single base substitution G A intron_variant PACA-CA 1 65811033 65811033 single base substitution C A intron_variant PACA-CA 1 65813430 65813430 single base substitution G A intron_variant PACA-CA 1 65814123 65814123 single base substitution G A intron_variant PACA-CA 1 65815012 65815012 single base substitution T G intron_variant PACA-CA 1 65820709 65820709 single base substitution C A intron_variant PACA-CA 1 65821049 65821049 single base substitution T C intron_variant PACA-CA 1 65822074 65822074 single base substitution G A intron_variant PACA-CA 1 65822730 65822730 single base substitution C A intron_variant PACA-CA 1 65823730 65823730 single base substitution C T intron_variant PACA-CA 1 65825370 65825370 single base substitution A G intron_variant PACA-CA 1 65829428 65829428 single base substitution C T intron_variant PACA-CA 1 65829428 65829428 single base substitution C T upstream_gene_variant PACA-CA 1 65834271 65834271 single base substitution T C downstream_gene_variant PACA-CA 1 65834271 65834271 single base substitution T C intron_variant PACA-CA 1 65842543 65842543 single base substitution C T intron_variant PACA-CA 1 65847099 65847099 single base substitution C A downstream_gene_variant PACA-CA 1 65847099 65847099 single base substitution C A intron_variant PACA-CA 1 65847099 65847099 single base substitution C A upstream_gene_variant PACA-CA 1 65849093 65849093 single base substitution G A downstream_gene_variant PACA-CA 1 65849093 65849093 single base substitution G A intron_variant PACA-CA 1 65849093 65849093 single base substitution G A upstream_gene_variant PACA-CA 1 65858934 65858934 single base substitution A T downstream_gene_variant PACA-CA 1 65858934 65858934 single base substitution A T intron_variant PACA-CA 1 65861013 65861013 deletion of <=200bp T - downstream_gene_variant PACA-CA 1 65861013 65861013 deletion of <=200bp T - intron_variant PACA-CA 1 65862441 65862441 single base substitution G A downstream_gene_variant PACA-CA 1 65862441 65862441 single base substitution G A intron_variant PACA-CA 1 65865695 65865695 single base substitution C G intron_variant PACA-CA 1 65865889 65865889 single base substitution C G intron_variant PACA-CA 1 65867488 65867488 single base substitution G A missense_variant G648R 1942G>A PACA-CA 1 65867488 65867488 single base substitution G A missense_variant G661R 1981G>A PACA-CA 1 65867488 65867488 single base substitution G A missense_variant G718R 2152G>A PACA-CA 1 65871598 65871598 single base substitution G T missense_variant G688V 2063G>T PACA-CA 1 65871598 65871598 single base substitution G T missense_variant G701V 2102G>T PACA-CA 1 65871598 65871598 single base substitution G T missense_variant G758V 2273G>T PACA-CA 1 65873539 65873539 deletion of <=200bp A - intron_variant PACA-CA 1 65874392 65874392 deletion of <=200bp A - frameshift_variant K784 PACA-CA 1 65874392 65874392 deletion of <=200bp A - frameshift_variant K797 PACA-CA 1 65874392 65874392 deletion of <=200bp A - frameshift_variant K854 PACA-CA 1 65875335 65875338 deletion of <=200bp ACCA - intron_variant PACA-CA 1 65876392 65876392 single base substitution C T intron_variant PACA-CA 1 65877873 65877873 single base substitution G C intron_variant PACA-CA 1 65881258 65881258 single base substitution C A 3_prime_UTR_variant PACA-CA 1 65881258 65881258 single base substitution C A downstream_gene_variant PACA-CA 1 65882909 65882909 single base substitution G A downstream_gene_variant PAEN-AU 1 65733365 65733365 insertion of <=200bp - AG intron_variant PAEN-AU 1 65738702 65738702 single base substitution C G intron_variant PAEN-AU 1 65740567 65740567 single base substitution C G intron_variant PAEN-AU 1 65769760 65769760 single base substitution A T intron_variant PAEN-AU 1 65816295 65816295 single base substitution A G intron_variant PAEN-AU 1 65844812 65844812 single base substitution A T intron_variant PAEN-AU 1 65844812 65844812 single base substitution A T upstream_gene_variant PAEN-AU 1 65858778 65858778 single base substitution C G downstream_gene_variant PAEN-AU 1 65858778 65858778 single base substitution C G intron_variant PAEN-IT 1 65719771 65719771 single base substitution C G intron_variant PAEN-IT 1 65719771 65719771 single base substitution C G upstream_gene_variant PBCA-DE 1 65733244 65733244 insertion of <=200bp - T intron_variant PBCA-DE 1 65739283 65739283 deletion of <=200bp A - intron_variant PBCA-DE 1 65749722 65749722 single base substitution G T intron_variant PBCA-DE 1 65795887 65795887 single base substitution T C intron_variant PBCA-DE 1 65813417 65813418 deletion of <=200bp CA - intron_variant PBCA-DE 1 65814768 65814768 single base substitution T A intron_variant PBCA-DE 1 65815608 65815608 single base substitution G A intron_variant PBCA-DE 1 65815744 65815744 single base substitution G T intron_variant PBCA-DE 1 65828348 65828348 single base substitution G C intron_variant PBCA-DE 1 65828348 65828348 single base substitution G C upstream_gene_variant PBCA-DE 1 65832621 65832621 single base substitution A T downstream_gene_variant PBCA-DE 1 65832621 65832621 single base substitution A T intron_variant PBCA-DE 1 65834397 65834397 single base substitution T C downstream_gene_variant PBCA-DE 1 65834397 65834397 single base substitution T C intron_variant PBCA-DE 1 65842040 65842040 single base substitution A T intron_variant PBCA-DE 1 65842796 65842796 single base substitution A G intron_variant PBCA-DE 1 65851635 65851635 single base substitution A C intron_variant PBCA-DE 1 65860943 65860943 single base substitution G T downstream_gene_variant PBCA-DE 1 65860943 65860943 single base substitution G T intron_variant PBCA-DE 1 65866762 65866762 deletion of <=200bp T - intron_variant PBCA-DE 1 65871712 65871712 single base substitution C T missense_variant P726L 2177C>T PBCA-DE 1 65871712 65871712 single base substitution C T missense_variant P739L 2216C>T PBCA-DE 1 65871712 65871712 single base substitution C T missense_variant P796L 2387C>T PBCA-DE 1 65880753 65880753 single base substitution C A 3_prime_UTR_variant PBCA-DE 1 65880753 65880753 single base substitution C A downstream_gene_variant PBCA-DE 1 65882749 65882750 deletion of <=200bp AT - downstream_gene_variant PRAD-CA 1 65721964 65721964 single base substitution T C intron_variant PRAD-CA 1 65725759 65725759 single base substitution C T intron_variant PRAD-CA 1 65725759 65725759 single base substitution C T upstream_gene_variant PRAD-CA 1 65758016 65758016 single base substitution G T intron_variant PRAD-CA 1 65767430 65767430 single base substitution C T intron_variant PRAD-CA 1 65768863 65768863 single base substitution G A intron_variant PRAD-CA 1 65778919 65778919 single base substitution C T intron_variant PRAD-CA 1 65784010 65784010 single base substitution A T intron_variant PRAD-UK 1 65712657 65712657 single base substitution G A upstream_gene_variant PRAD-UK 1 65726731 65726731 single base substitution G T intron_variant PRAD-UK 1 65726731 65726731 single base substitution G T upstream_gene_variant PRAD-UK 1 65740673 65740673 single base substitution G A intron_variant PRAD-UK 1 65760999 65760999 single base substitution C T intron_variant PRAD-UK 1 65762816 65762816 single base substitution G A intron_variant PRAD-UK 1 65765818 65765818 insertion of <=200bp - A intron_variant PRAD-UK 1 65770246 65770246 single base substitution T G intron_variant PRAD-UK 1 65770246 65770246 single base substitution T G upstream_gene_variant PRAD-UK 1 65775275 65775275 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant PRAD-UK 1 65775275 65775275 single base substitution C G intron_variant PRAD-UK 1 65780978 65780978 single base substitution T A intron_variant PRAD-UK 1 65815299 65815299 insertion of <=200bp - A intron_variant PRAD-UK 1 65815306 65815306 insertion of <=200bp - A intron_variant PRAD-UK 1 65817422 65817422 single base substitution A G intron_variant PRAD-UK 1 65819453 65819453 single base substitution C A intron_variant PRAD-UK 1 65821861 65821861 insertion of <=200bp - T intron_variant PRAD-UK 1 65831790 65831790 single base substitution C T downstream_gene_variant PRAD-UK 1 65831790 65831790 single base substitution C T exon_variant PRAD-UK 1 65831790 65831790 single base substitution C T stop_gained R126* 376C>T PRAD-UK 1 65831790 65831790 single base substitution C T stop_gained R152* 454C>T PRAD-UK 1 65831790 65831790 single base substitution C T stop_gained R82* 244C>T PRAD-UK 1 65831790 65831790 single base substitution C T stop_gained R95* 283C>T PRAD-UK 1 65840466 65840466 single base substitution C T intron_variant PRAD-UK 1 65845549 65845549 single base substitution G A downstream_gene_variant PRAD-UK 1 65845549 65845549 single base substitution G A intron_variant PRAD-UK 1 65845549 65845549 single base substitution G A upstream_gene_variant PRAD-UK 1 65857612 65857612 single base substitution C A downstream_gene_variant PRAD-UK 1 65857612 65857612 single base substitution C A intron_variant READ-US 1 65831836 65831836 single base substitution A C downstream_gene_variant READ-US 1 65831836 65831836 single base substitution A C exon_variant READ-US 1 65831836 65831836 single base substitution A C missense_variant N110T 329A>C READ-US 1 65831836 65831836 single base substitution A C missense_variant N141T 422A>C READ-US 1 65831836 65831836 single base substitution A C missense_variant N167T 500A>C READ-US 1 65831836 65831836 single base substitution A C missense_variant N97T 290A>C READ-US 1 65849975 65849975 single base substitution C T downstream_gene_variant READ-US 1 65849975 65849975 single base substitution C T exon_variant READ-US 1 65849975 65849975 single base substitution C T stop_gained R186* 556C>T READ-US 1 65849975 65849975 single base substitution C T stop_gained R199* 595C>T READ-US 1 65849975 65849975 single base substitution C T stop_gained R230* 688C>T READ-US 1 65849975 65849975 single base substitution C T stop_gained R256* 766C>T READ-US 1 65851583 65851583 single base substitution G A exon_variant READ-US 1 65851583 65851583 single base substitution G A missense_variant R260Q 779G>A READ-US 1 65851583 65851583 single base substitution G A missense_variant R273Q 818G>A READ-US 1 65851583 65851583 single base substitution G A missense_variant R304Q 911G>A READ-US 1 65851583 65851583 single base substitution G A missense_variant R330Q 989G>A READ-US 1 65858361 65858361 single base substitution G A downstream_gene_variant READ-US 1 65858361 65858361 single base substitution G A synonymous_variant A502A 1506G>A READ-US 1 65858361 65858361 single base substitution G A synonymous_variant A515A 1545G>A READ-US 1 65858361 65858361 single base substitution G A synonymous_variant A572A 1716G>A READ-US 1 65860702 65860702 single base substitution G A downstream_gene_variant READ-US 1 65860702 65860702 single base substitution G A synonymous_variant S605S 1815G>A READ-US 1 65860702 65860702 single base substitution G A synonymous_variant S618S 1854G>A READ-US 1 65860702 65860702 single base substitution G A synonymous_variant S675S 2025G>A READ-US 1 65867488 65867488 single base substitution G A missense_variant G648R 1942G>A READ-US 1 65867488 65867488 single base substitution G A missense_variant G661R 1981G>A READ-US 1 65867488 65867488 single base substitution G A missense_variant G718R 2152G>A RECA-EU 1 65713715 65713715 single base substitution T C upstream_gene_variant RECA-EU 1 65750961 65750961 single base substitution A T intron_variant RECA-EU 1 65760198 65760198 single base substitution T G intron_variant RECA-EU 1 65761503 65761503 single base substitution T C intron_variant RECA-EU 1 65770742 65770742 single base substitution A C intron_variant RECA-EU 1 65770742 65770742 single base substitution A C upstream_gene_variant RECA-EU 1 65777114 65777114 single base substitution G A intron_variant RECA-EU 1 65788791 65788791 single base substitution A C intron_variant RECA-EU 1 65788900 65788900 single base substitution G A intron_variant RECA-EU 1 65798286 65798286 single base substitution C T intron_variant RECA-EU 1 65802292 65802292 single base substitution T C intron_variant RECA-EU 1 65806629 65806629 single base substitution G A intron_variant RECA-EU 1 65806630 65806630 single base substitution C A intron_variant RECA-EU 1 65820354 65820354 single base substitution G T intron_variant RECA-EU 1 65824888 65824888 single base substitution A G intron_variant RECA-EU 1 65834397 65834397 single base substitution T C downstream_gene_variant RECA-EU 1 65834397 65834397 single base substitution T C intron_variant RECA-EU 1 65839589 65839589 single base substitution A T intron_variant RECA-EU 1 65840677 65840677 single base substitution G A intron_variant RECA-EU 1 65842125 65842125 single base substitution G A intron_variant RECA-EU 1 65852252 65852252 single base substitution A G intron_variant RECA-EU 1 65856025 65856025 single base substitution G C downstream_gene_variant RECA-EU 1 65856025 65856025 single base substitution G C intron_variant RECA-EU 1 65861961 65861961 single base substitution T C downstream_gene_variant RECA-EU 1 65861961 65861961 single base substitution T C intron_variant RECA-EU 1 65870714 65870714 single base substitution T A intron_variant RECA-EU 1 65875210 65875210 single base substitution G A intron_variant RECA-EU 1 65877222 65877222 single base substitution A G intron_variant RECA-EU 1 65877321 65877321 single base substitution G C intron_variant RECA-EU 1 65885101 65885101 single base substitution A G downstream_gene_variant SKCA-BR 1 65708956 65708956 single base substitution C T upstream_gene_variant SKCA-BR 1 65710327 65710327 single base substitution G A upstream_gene_variant SKCA-BR 1 65712796 65712797 deletion of <=200bp CA - upstream_gene_variant SKCA-BR 1 65712796 65712798 deletion of <=200bp CAA - upstream_gene_variant SKCA-BR 1 65713085 65713085 single base substitution G A upstream_gene_variant SKCA-BR 1 65715156 65715156 single base substitution C T intron_variant SKCA-BR 1 65715156 65715156 single base substitution C T upstream_gene_variant SKCA-BR 1 65719037 65719037 single base substitution G C intron_variant SKCA-BR 1 65719037 65719037 single base substitution G C upstream_gene_variant SKCA-BR 1 65720202 65720202 single base substitution A G 5_prime_UTR_variant SKCA-BR 1 65720202 65720202 single base substitution A G intron_variant SKCA-BR 1 65720206 65720206 single base substitution C G 5_prime_UTR_variant SKCA-BR 1 65720206 65720206 single base substitution C G intron_variant SKCA-BR 1 65728299 65728299 insertion of <=200bp - TAA intron_variant SKCA-BR 1 65728299 65728299 insertion of <=200bp - TAA upstream_gene_variant SKCA-BR 1 65731342 65731342 single base substitution G A intron_variant SKCA-BR 1 65731961 65731961 insertion of <=200bp - GA intron_variant SKCA-BR 1 65735427 65735427 single base substitution A G intron_variant SKCA-BR 1 65735753 65735753 single base substitution G A intron_variant SKCA-BR 1 65736425 65736425 single base substitution G T intron_variant SKCA-BR 1 65740688 65740688 single base substitution A C intron_variant SKCA-BR 1 65742759 65742759 single base substitution C T intron_variant SKCA-BR 1 65748195 65748195 single base substitution C T intron_variant SKCA-BR 1 65749571 65749571 single base substitution C T intron_variant SKCA-BR 1 65754079 65754079 single base substitution G A intron_variant SKCA-BR 1 65756793 65756793 single base substitution G A intron_variant SKCA-BR 1 65758016 65758016 single base substitution G T intron_variant SKCA-BR 1 65766038 65766038 single base substitution G C intron_variant SKCA-BR 1 65767211 65767211 single base substitution T C intron_variant SKCA-BR 1 65767927 65767965 deletion of <=200bp TTAATATATAATATTATATATATTATATATTATATAATA - intron_variant SKCA-BR 1 65768206 65768206 single base substitution C T intron_variant SKCA-BR 1 65768526 65768526 single base substitution C T intron_variant SKCA-BR 1 65770535 65770535 single base substitution C T intron_variant SKCA-BR 1 65770535 65770535 single base substitution C T upstream_gene_variant SKCA-BR 1 65772655 65772657 deletion of <=200bp TTC - intron_variant SKCA-BR 1 65772655 65772657 deletion of <=200bp TTC - upstream_gene_variant SKCA-BR 1 65772655 65772661 deletion of <=200bp TTCTCTC - intron_variant SKCA-BR 1 65772655 65772661 deletion of <=200bp TTCTCTC - upstream_gene_variant SKCA-BR 1 65776232 65776232 single base substitution T G intron_variant SKCA-BR 1 65777873 65777873 single base substitution C T intron_variant SKCA-BR 1 65778360 65778360 single base substitution T G intron_variant SKCA-BR 1 65778919 65778919 single base substitution C T intron_variant SKCA-BR 1 65779355 65779355 single base substitution C T intron_variant SKCA-BR 1 65780968 65780969 deletion of <=200bp GT - intron_variant SKCA-BR 1 65781103 65781103 single base substitution G A intron_variant SKCA-BR 1 65785716 65785716 single base substitution T C intron_variant SKCA-BR 1 65787687 65787687 single base substitution C A intron_variant SKCA-BR 1 65790619 65790619 single base substitution G A intron_variant SKCA-BR 1 65794326 65794326 single base substitution A C intron_variant SKCA-BR 1 65794844 65794844 single base substitution T A intron_variant SKCA-BR 1 65796015 65796015 single base substitution C T intron_variant SKCA-BR 1 65802206 65802206 single base substitution C T intron_variant SKCA-BR 1 65804313 65804313 single base substitution C T intron_variant SKCA-BR 1 65805319 65805319 single base substitution G A intron_variant SKCA-BR 1 65805882 65805882 single base substitution G A intron_variant SKCA-BR 1 65807788 65807788 single base substitution C T intron_variant SKCA-BR 1 65807960 65807960 single base substitution C T intron_variant SKCA-BR 1 65810193 65810193 single base substitution C T intron_variant SKCA-BR 1 65810272 65810272 single base substitution C T intron_variant SKCA-BR 1 65812816 65812816 single base substitution T G intron_variant SKCA-BR 1 65815985 65815985 single base substitution C T intron_variant SKCA-BR 1 65816050 65816050 single base substitution G T intron_variant SKCA-BR 1 65817860 65817860 single base substitution C T intron_variant SKCA-BR 1 65820947 65820947 insertion of <=200bp - CA intron_variant SKCA-BR 1 65821565 65821565 insertion of <=200bp - CT intron_variant SKCA-BR 1 65825264 65825264 single base substitution C T intron_variant SKCA-BR 1 65826548 65826548 single base substitution G C intron_variant SKCA-BR 1 65826656 65826656 single base substitution T G intron_variant SKCA-BR 1 65827281 65827281 single base substitution C T intron_variant SKCA-BR 1 65827281 65827281 single base substitution C T upstream_gene_variant SKCA-BR 1 65833556 65833558 deletion of <=200bp ATT - downstream_gene_variant SKCA-BR 1 65833556 65833558 deletion of <=200bp ATT - intron_variant SKCA-BR 1 65834169 65834169 single base substitution C T downstream_gene_variant SKCA-BR 1 65834169 65834169 single base substitution C T intron_variant SKCA-BR 1 65834723 65834723 single base substitution G A downstream_gene_variant SKCA-BR 1 65834723 65834723 single base substitution G A intron_variant SKCA-BR 1 65834791 65834791 single base substitution G T downstream_gene_variant SKCA-BR 1 65834791 65834791 single base substitution G T intron_variant SKCA-BR 1 65836254 65836254 single base substitution C T downstream_gene_variant SKCA-BR 1 65836254 65836254 single base substitution C T intron_variant SKCA-BR 1 65836867 65836867 single base substitution A G downstream_gene_variant SKCA-BR 1 65836867 65836867 single base substitution A G intron_variant SKCA-BR 1 65838229 65838229 single base substitution G A intron_variant SKCA-BR 1 65838629 65838629 single base substitution T G intron_variant SKCA-BR 1 65840635 65840635 single base substitution C T intron_variant SKCA-BR 1 65841684 65841684 single base substitution G C intron_variant SKCA-BR 1 65842138 65842138 single base substitution C T intron_variant SKCA-BR 1 65842397 65842397 single base substitution C T intron_variant SKCA-BR 1 65842398 65842398 single base substitution C T intron_variant SKCA-BR 1 65843962 65843962 insertion of <=200bp - CCTTCTTAAATATTCTCCCAG intron_variant SKCA-BR 1 65844237 65844237 single base substitution T G intron_variant SKCA-BR 1 65846598 65846599 deletion of <=200bp TG - downstream_gene_variant SKCA-BR 1 65846598 65846599 deletion of <=200bp TG - intron_variant SKCA-BR 1 65846598 65846599 deletion of <=200bp TG - upstream_gene_variant SKCA-BR 1 65847453 65847453 single base substitution C T downstream_gene_variant SKCA-BR 1 65847453 65847453 single base substitution C T intron_variant SKCA-BR 1 65847453 65847453 single base substitution C T upstream_gene_variant SKCA-BR 1 65849006 65849006 single base substitution T A downstream_gene_variant SKCA-BR 1 65849006 65849006 single base substitution T A intron_variant SKCA-BR 1 65849006 65849006 single base substitution T A upstream_gene_variant SKCA-BR 1 65852531 65852531 single base substitution C T exon_variant SKCA-BR 1 65852531 65852531 single base substitution C T synonymous_variant P274P 822C>T SKCA-BR 1 65852531 65852531 single base substitution C T synonymous_variant P287P 861C>T SKCA-BR 1 65852531 65852531 single base substitution C T synonymous_variant P318P 954C>T SKCA-BR 1 65852531 65852531 single base substitution C T synonymous_variant P344P 1032C>T SKCA-BR 1 65854929 65854929 single base substitution C T downstream_gene_variant SKCA-BR 1 65854929 65854929 single base substitution C T intron_variant SKCA-BR 1 65856090 65856090 single base substitution A C downstream_gene_variant SKCA-BR 1 65856090 65856090 single base substitution A C intron_variant SKCA-BR 1 65858170 65858170 single base substitution G A downstream_gene_variant SKCA-BR 1 65858170 65858170 single base substitution G A missense_variant E439K 1315G>A SKCA-BR 1 65858170 65858170 single base substitution G A missense_variant E452K 1354G>A SKCA-BR 1 65858170 65858170 single base substitution G A missense_variant E483K 1447G>A SKCA-BR 1 65858170 65858170 single base substitution G A missense_variant E509K 1525G>A SKCA-BR 1 65862955 65862955 insertion of <=200bp - GATTGCCCACCTGC downstream_gene_variant SKCA-BR 1 65862955 65862955 insertion of <=200bp - GATTGCCCACCTGC intron_variant SKCA-BR 1 65862957 65862957 single base substitution C A downstream_gene_variant SKCA-BR 1 65862957 65862957 single base substitution C A intron_variant SKCA-BR 1 65863805 65863805 single base substitution C T intron_variant SKCA-BR 1 65864086 65864086 single base substitution C T intron_variant SKCA-BR 1 65872282 65872282 single base substitution G A intron_variant SKCA-BR 1 65874064 65874064 single base substitution G A intron_variant SKCA-BR 1 65874682 65874682 single base substitution C T intron_variant SKCA-BR 1 65874976 65874976 single base substitution C T intron_variant SKCA-BR 1 65876748 65876748 single base substitution C T intron_variant SKCA-BR 1 65881132 65881132 insertion of <=200bp - AACAC 3_prime_UTR_variant SKCA-BR 1 65881132 65881132 insertion of <=200bp - AACAC downstream_gene_variant SKCA-BR 1 65881620 65881620 single base substitution T A downstream_gene_variant SKCA-BR 1 65882073 65882073 single base substitution G T downstream_gene_variant SKCA-BR 1 65885256 65885256 insertion of <=200bp - AT downstream_gene_variant SKCA-BR 1 65886398 65886398 single base substitution T C downstream_gene_variant SKCM-US 1 65831742 65831742 single base substitution C T downstream_gene_variant SKCM-US 1 65831742 65831742 single base substitution C T exon_variant SKCM-US 1 65831742 65831742 single base substitution C T missense_variant P110S 328C>T SKCM-US 1 65831742 65831742 single base substitution C T missense_variant P136S 406C>T SKCM-US 1 65831742 65831742 single base substitution C T missense_variant P66S 196C>T SKCM-US 1 65831742 65831742 single base substitution C T missense_variant P79S 235C>T SKCM-US 1 65831742 65831742 single base substitution C T upstream_gene_variant SKCM-US 1 65845150 65845150 single base substitution G A exon_variant SKCM-US 1 65845150 65845150 single base substitution G A synonymous_variant R133R 399G>A SKCM-US 1 65845150 65845150 single base substitution G A synonymous_variant R146R 438G>A SKCM-US 1 65845150 65845150 single base substitution G A synonymous_variant R177R 531G>A SKCM-US 1 65845150 65845150 single base substitution G A synonymous_variant R203R 609G>A SKCM-US 1 65845150 65845150 single base substitution G A upstream_gene_variant SKCM-US 1 65849957 65849957 single base substitution C T downstream_gene_variant SKCM-US 1 65849957 65849957 single base substitution C T exon_variant SKCM-US 1 65849957 65849957 single base substitution C T stop_gained R180* 538C>T SKCM-US 1 65849957 65849957 single base substitution C T stop_gained R193* 577C>T SKCM-US 1 65849957 65849957 single base substitution C T stop_gained R224* 670C>T SKCM-US 1 65849957 65849957 single base substitution C T stop_gained R250* 748C>T SKCM-US 1 65851393 65851393 single base substitution A C splice_acceptor_variant SKCM-US 1 65852574 65852574 single base substitution C T exon_variant SKCM-US 1 65852574 65852574 single base substitution C T missense_variant H289Y 865C>T SKCM-US 1 65852574 65852574 single base substitution C T missense_variant H302Y 904C>T SKCM-US 1 65852574 65852574 single base substitution C T missense_variant H333Y 997C>T SKCM-US 1 65852574 65852574 single base substitution C T missense_variant H359Y 1075C>T SKCM-US 1 65855093 65855093 single base substitution T G downstream_gene_variant SKCM-US 1 65855093 65855093 single base substitution T G missense_variant S380A 1138T>G SKCM-US 1 65855093 65855093 single base substitution T G missense_variant S393A 1177T>G SKCM-US 1 65855093 65855093 single base substitution T G missense_variant S424A 1270T>G SKCM-US 1 65855093 65855093 single base substitution T G missense_variant S450A 1348T>G SKCM-US 1 65858274 65858274 single base substitution G A downstream_gene_variant SKCM-US 1 65858274 65858274 single base substitution G A synonymous_variant Q473Q 1419G>A SKCM-US 1 65858274 65858274 single base substitution G A synonymous_variant Q486Q 1458G>A SKCM-US 1 65858274 65858274 single base substitution G A synonymous_variant Q543Q 1629G>A SKCM-US 1 65858423 65858423 single base substitution C T downstream_gene_variant SKCM-US 1 65858423 65858423 single base substitution C T missense_variant P523L 1568C>T SKCM-US 1 65858423 65858423 single base substitution C T missense_variant P536L 1607C>T SKCM-US 1 65858423 65858423 single base substitution C T missense_variant P593L 1778C>T SKCM-US 1 65858517 65858517 single base substitution C T downstream_gene_variant SKCM-US 1 65858517 65858517 single base substitution C T synonymous_variant T554T 1662C>T SKCM-US 1 65858517 65858517 single base substitution C T synonymous_variant T567T 1701C>T SKCM-US 1 65858517 65858517 single base substitution C T synonymous_variant T624T 1872C>T SKCM-US 1 65860679 65860679 single base substitution C T downstream_gene_variant SKCM-US 1 65860679 65860679 single base substitution C T missense_variant L598F 1792C>T SKCM-US 1 65860679 65860679 single base substitution C T missense_variant L611F 1831C>T SKCM-US 1 65860679 65860679 single base substitution C T missense_variant L668F 2002C>T SKCM-US 1 65860698 65860698 single base substitution C T downstream_gene_variant SKCM-US 1 65860698 65860698 single base substitution C T missense_variant P604L 1811C>T SKCM-US 1 65860698 65860698 single base substitution C T missense_variant P617L 1850C>T SKCM-US 1 65860698 65860698 single base substitution C T missense_variant P674L 2021C>T SKCM-US 1 65871640 65871640 single base substitution C T missense_variant P702L 2105C>T SKCM-US 1 65871640 65871640 single base substitution C T missense_variant P715L 2144C>T SKCM-US 1 65871640 65871640 single base substitution C T missense_variant P772L 2315C>T SKCM-US 1 65871733 65871733 single base substitution C T missense_variant P733L 2198C>T SKCM-US 1 65871733 65871733 single base substitution C T missense_variant P746L 2237C>T SKCM-US 1 65871733 65871733 single base substitution C T missense_variant P803L 2408C>T SKCM-US 1 65874423 65874423 single base substitution G A missense_variant R794K 2381G>A SKCM-US 1 65874423 65874423 single base substitution G A missense_variant R807K 2420G>A SKCM-US 1 65874423 65874423 single base substitution G A missense_variant R864K 2591G>A SKCM-US 1 65878698 65878698 single base substitution C T missense_variant P898L 2693C>T SKCM-US 1 65878698 65878698 single base substitution C T missense_variant P911L 2732C>T SKCM-US 1 65878698 65878698 single base substitution C T missense_variant P968L 2903C>T STAD-US 1 65830386 65830386 single base substitution G T exon_variant STAD-US 1 65830386 65830386 single base substitution G T missense_variant G18W 52G>T STAD-US 1 65830386 65830386 single base substitution G T missense_variant G31W 91G>T STAD-US 1 65830386 65830386 single base substitution G T missense_variant G62W 184G>T STAD-US 1 65830386 65830386 single base substitution G T missense_variant G88W 262G>T STAD-US 1 65830386 65830386 single base substitution G T upstream_gene_variant STAD-US 1 65830470 65830470 single base substitution T C downstream_gene_variant STAD-US 1 65830470 65830470 single base substitution T C splice_donor_variant STAD-US 1 65830470 65830470 single base substitution T C upstream_gene_variant STAD-US 1 65851439 65851439 single base substitution G A exon_variant STAD-US 1 65851439 65851439 single base substitution G A missense_variant R212H 635G>A STAD-US 1 65851439 65851439 single base substitution G A missense_variant R225H 674G>A STAD-US 1 65851439 65851439 single base substitution G A missense_variant R256H 767G>A STAD-US 1 65851439 65851439 single base substitution G A missense_variant R282H 845G>A STAD-US 1 65851489 65851489 deletion of <=200bp C - exon_variant STAD-US 1 65851489 65851489 deletion of <=200bp C - frameshift_variant P229 STAD-US 1 65851489 65851489 deletion of <=200bp C - frameshift_variant P242 STAD-US 1 65851489 65851489 deletion of <=200bp C - frameshift_variant P273 STAD-US 1 65851489 65851489 deletion of <=200bp C - frameshift_variant P299 STAD-US 1 65851520 65851520 single base substitution G A exon_variant STAD-US 1 65851520 65851520 single base substitution G A missense_variant R239H 716G>A STAD-US 1 65851520 65851520 single base substitution G A missense_variant R252H 755G>A STAD-US 1 65851520 65851520 single base substitution G A missense_variant R283H 848G>A STAD-US 1 65851520 65851520 single base substitution G A missense_variant R309H 926G>A STAD-US 1 65852530 65852530 single base substitution C A exon_variant STAD-US 1 65852530 65852530 single base substitution C A missense_variant P274H 821C>A STAD-US 1 65852530 65852530 single base substitution C A missense_variant P287H 860C>A STAD-US 1 65852530 65852530 single base substitution C A missense_variant P318H 953C>A STAD-US 1 65852530 65852530 single base substitution C A missense_variant P344H 1031C>A STAD-US 1 65852598 65852598 single base substitution C T exon_variant STAD-US 1 65852598 65852598 single base substitution C T missense_variant R297W 889C>T STAD-US 1 65852598 65852598 single base substitution C T missense_variant R310W 928C>T STAD-US 1 65852598 65852598 single base substitution C T missense_variant R341W 1021C>T STAD-US 1 65852598 65852598 single base substitution C T missense_variant R367W 1099C>T STAD-US 1 65855087 65855087 single base substitution C A downstream_gene_variant STAD-US 1 65855087 65855087 single base substitution C A missense_variant L378I 1132C>A STAD-US 1 65855087 65855087 single base substitution C A missense_variant L391I 1171C>A STAD-US 1 65855087 65855087 single base substitution C A missense_variant L422I 1264C>A STAD-US 1 65855087 65855087 single base substitution C A missense_variant L448I 1342C>A STAD-US 1 65855119 65855119 single base substitution G A downstream_gene_variant STAD-US 1 65855119 65855119 single base substitution G A synonymous_variant T388T 1164G>A STAD-US 1 65855119 65855119 single base substitution G A synonymous_variant T401T 1203G>A STAD-US 1 65855119 65855119 single base substitution G A synonymous_variant T432T 1296G>A STAD-US 1 65855119 65855119 single base substitution G A synonymous_variant T458T 1374G>A STAD-US 1 65858124 65858124 single base substitution G A downstream_gene_variant STAD-US 1 65858124 65858124 single base substitution G A synonymous_variant S423S 1269G>A STAD-US 1 65858124 65858124 single base substitution G A synonymous_variant S436S 1308G>A STAD-US 1 65858124 65858124 single base substitution G A synonymous_variant S467S 1401G>A STAD-US 1 65858124 65858124 single base substitution G A synonymous_variant S493S 1479G>A STAD-US 1 65858259 65858259 single base substitution C A downstream_gene_variant STAD-US 1 65858259 65858259 single base substitution C A synonymous_variant P468P 1404C>A STAD-US 1 65858259 65858259 single base substitution C A synonymous_variant P481P 1443C>A STAD-US 1 65858259 65858259 single base substitution C A synonymous_variant P512P 1536C>A STAD-US 1 65858259 65858259 single base substitution C A synonymous_variant P538P 1614C>A STAD-US 1 65858399 65858399 single base substitution T G downstream_gene_variant STAD-US 1 65858399 65858399 single base substitution T G missense_variant F515C 1544T>G STAD-US 1 65858399 65858399 single base substitution T G missense_variant F528C 1583T>G STAD-US 1 65858399 65858399 single base substitution T G missense_variant F585C 1754T>G STAD-US 1 65871610 65871610 single base substitution C T missense_variant P692L 2075C>T STAD-US 1 65871610 65871610 single base substitution C T missense_variant P705L 2114C>T STAD-US 1 65871610 65871610 single base substitution C T missense_variant P762L 2285C>T STAD-US 1 65871724 65871724 deletion of <=200bp A - frameshift_variant H730 STAD-US 1 65871724 65871724 deletion of <=200bp A - frameshift_variant H743 STAD-US 1 65871724 65871724 deletion of <=200bp A - frameshift_variant H800 STAD-US 1 65874367 65874367 single base substitution T C synonymous_variant G775G 2325T>C STAD-US 1 65874367 65874367 single base substitution T C synonymous_variant G788G 2364T>C STAD-US 1 65874367 65874367 single base substitution T C synonymous_variant G845G 2535T>C STAD-US 1 65874405 65874405 single base substitution G A missense_variant R788Q 2363G>A STAD-US 1 65874405 65874405 single base substitution G A missense_variant R801Q 2402G>A STAD-US 1 65874405 65874405 single base substitution G A missense_variant R858Q 2573G>A STAD-US 1 65877006 65877006 single base substitution C T missense_variant A833V 2498C>T STAD-US 1 65877006 65877006 single base substitution C T missense_variant A846V 2537C>T STAD-US 1 65877006 65877006 single base substitution C T missense_variant A903V 2708C>T STAD-US 1 65878634 65878634 single base substitution G A missense_variant A877T 2629G>A STAD-US 1 65878634 65878634 single base substitution G A missense_variant A890T 2668G>A STAD-US 1 65878634 65878634 single base substitution G A missense_variant A947T 2839G>A STAD-US 1 65878696 65878696 single base substitution G A synonymous_variant K897K 2691G>A STAD-US 1 65878696 65878696 single base substitution G A synonymous_variant K910K 2730G>A STAD-US 1 65878696 65878696 single base substitution G A synonymous_variant K967K 2901G>A UCEC-US 1 65831572 65831572 single base substitution A G downstream_gene_variant UCEC-US 1 65831572 65831572 single base substitution A G exon_variant UCEC-US 1 65831572 65831572 single base substitution A G missense_variant T117A 349A>G UCEC-US 1 65831572 65831572 single base substitution A G missense_variant T47A 139A>G UCEC-US 1 65831572 65831572 single base substitution A G missense_variant T60A 178A>G UCEC-US 1 65831572 65831572 single base substitution A G missense_variant T91A 271A>G UCEC-US 1 65831572 65831572 single base substitution A G upstream_gene_variant UCEC-US 1 65831757 65831757 single base substitution G T downstream_gene_variant UCEC-US 1 65831757 65831757 single base substitution G T exon_variant UCEC-US 1 65831757 65831757 single base substitution G T missense_variant D115Y 343G>T UCEC-US 1 65831757 65831757 single base substitution G T missense_variant D141Y 421G>T UCEC-US 1 65831757 65831757 single base substitution G T missense_variant D71Y 211G>T UCEC-US 1 65831757 65831757 single base substitution G T missense_variant D84Y 250G>T UCEC-US 1 65831791 65831791 single base substitution G A downstream_gene_variant UCEC-US 1 65831791 65831791 single base substitution G A exon_variant UCEC-US 1 65831791 65831791 single base substitution G A missense_variant R126Q 377G>A UCEC-US 1 65831791 65831791 single base substitution G A missense_variant R152Q 455G>A UCEC-US 1 65831791 65831791 single base substitution G A missense_variant R82Q 245G>A UCEC-US 1 65831791 65831791 single base substitution G A missense_variant R95Q 284G>A UCEC-US 1 65845149 65845149 single base substitution G A exon_variant UCEC-US 1 65845149 65845149 single base substitution G A missense_variant R133Q 398G>A UCEC-US 1 65845149 65845149 single base substitution G A missense_variant R146Q 437G>A UCEC-US 1 65845149 65845149 single base substitution G A missense_variant R177Q 530G>A UCEC-US 1 65845149 65845149 single base substitution G A missense_variant R203Q 608G>A UCEC-US 1 65845149 65845149 single base substitution G A upstream_gene_variant UCEC-US 1 65849987 65849987 single base substitution G T downstream_gene_variant UCEC-US 1 65849987 65849987 single base substitution G T exon_variant UCEC-US 1 65849987 65849987 single base substitution G T stop_gained G190* 568G>T UCEC-US 1 65849987 65849987 single base substitution G T stop_gained G203* 607G>T UCEC-US 1 65849987 65849987 single base substitution G T stop_gained G234* 700G>T UCEC-US 1 65849987 65849987 single base substitution G T stop_gained G260* 778G>T UCEC-US 1 65851417 65851417 single base substitution C A exon_variant UCEC-US 1 65851417 65851417 single base substitution C A missense_variant L205I 613C>A UCEC-US 1 65851417 65851417 single base substitution C A missense_variant L218I 652C>A UCEC-US 1 65851417 65851417 single base substitution C A missense_variant L249I 745C>A UCEC-US 1 65851417 65851417 single base substitution C A missense_variant L275I 823C>A UCEC-US 1 65851514 65851514 single base substitution G A exon_variant UCEC-US 1 65851514 65851514 single base substitution G A missense_variant G237E 710G>A UCEC-US 1 65851514 65851514 single base substitution G A missense_variant G250E 749G>A UCEC-US 1 65851514 65851514 single base substitution G A missense_variant G281E 842G>A UCEC-US 1 65851514 65851514 single base substitution G A missense_variant G307E 920G>A UCEC-US 1 65855267 65855267 single base substitution G A downstream_gene_variant UCEC-US 1 65855267 65855267 single base substitution G A synonymous_variant R405R 1215G>A UCEC-US 1 65855267 65855267 single base substitution G A synonymous_variant R418R 1254G>A UCEC-US 1 65855267 65855267 single base substitution G A synonymous_variant R449R 1347G>A UCEC-US 1 65855267 65855267 single base substitution G A synonymous_variant R475R 1425G>A UCEC-US 1 65858261 65858261 single base substitution G A downstream_gene_variant UCEC-US 1 65858261 65858261 single base substitution G A missense_variant S469N 1406G>A UCEC-US 1 65858261 65858261 single base substitution G A missense_variant S482N 1445G>A UCEC-US 1 65858261 65858261 single base substitution G A missense_variant S513N 1538G>A UCEC-US 1 65858261 65858261 single base substitution G A missense_variant S539N 1616G>A UCEC-US 1 65858333 65858333 single base substitution C T downstream_gene_variant UCEC-US 1 65858333 65858333 single base substitution C T missense_variant A493V 1478C>T UCEC-US 1 65858333 65858333 single base substitution C T missense_variant A506V 1517C>T UCEC-US 1 65858333 65858333 single base substitution C T missense_variant A563V 1688C>T UCEC-US 1 65864506 65864506 single base substitution G A synonymous_variant T613T 1839G>A UCEC-US 1 65864506 65864506 single base substitution G A synonymous_variant T626T 1878G>A UCEC-US 1 65864506 65864506 single base substitution G A synonymous_variant T683T 2049G>A UCEC-US 1 65867528 65867528 single base substitution A C missense_variant Q661P 1982A>C UCEC-US 1 65867528 65867528 single base substitution A C missense_variant Q674P 2021A>C UCEC-US 1 65867528 65867528 single base substitution A C missense_variant Q731P 2192A>C UCEC-US 1 65871727 65871727 single base substitution C T missense_variant S731F 2192C>T UCEC-US 1 65871727 65871727 single base substitution C T missense_variant S744F 2231C>T UCEC-US 1 65871727 65871727 single base substitution C T missense_variant S801F 2402C>T UCEC-US 1 65871742 65871742 single base substitution G A missense_variant R736Q 2207G>A UCEC-US 1 65871742 65871742 single base substitution G A missense_variant R749Q 2246G>A UCEC-US 1 65871742 65871742 single base substitution G A missense_variant R806Q 2417G>A UCEC-US 1 65874418 65874418 single base substitution G T missense_variant E792D 2376G>T UCEC-US 1 65874418 65874418 single base substitution G T missense_variant E805D 2415G>T UCEC-US 1 65874418 65874418 single base substitution G T missense_variant E862D 2586G>T UCEC-US 1 65877064 65877064 single base substitution G T synonymous_variant V852V 2556G>T UCEC-US 1 65877064 65877064 single base substitution G T synonymous_variant V865V 2595G>T UCEC-US 1 65877064 65877064 single base substitution G T synonymous_variant V922V 2766G>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-HU-A4H8-01 COSM4009435 c.2573G>A p.R858Q Substitution - Missense 1:65408722-65408722 + TCGA-LP-A4AV-01 COSM4825425 c.1817C>T p.S606F Substitution - Missense 1:65394982-65394982 + TCGA-EI-6917-01 COSM3419391 c.500A>C p.N167T Substitution - Missense 1:65366153-65366153 + 11M COSM3491779 c.235C>T p.P79S Substitution - Missense 1:65366059-65366059 + TCGA-A8-A0A6-01 COSM3805777 c.1870A>C p.T624P Substitution - Missense 1:65392832-65392832 + 2521259 COSM5889499 c.2237C>T p.S746F Substitution - Missense 1:65405879-65405879 + ME020T COSM225436 c.1138C>A p.H380N Substitution - Missense 1:65389371-65389371 + 37T COSM1204223 c.350G>A p.R117Q Substitution - Missense 1:65366174-65366174 + CSCC-31-T COSM4529321 c.1430G>A p.G477E Substitution - Missense 1:65392563-65392563 + 2334194 COSM23321 c.1868C>G p.A623G Substitution - Missense 1:65398813-65398813 + TCGA-LP-A4AV-01 COSM4825426 c.1988C>T p.S663F Substitution - Missense 1:65394982-65394982 + sysucc-1213T COSM5764225 c.231A>G p.G77G Substitution - coding silent 1:65364672-65364672 + 10 COSM327419 c.1966G>T p.A656S Substitution - Missense 1:65401790-65401790 + 206T COSM1726873 c.495G>T p.L165F Substitution - Missense 1:65379524-65379524 + PT37 COSM5917140 c.832C>T p.R278C Substitution - Missense 1:65386819-65386819 + CSCC-62-T COSM4240635 c.793C>T p.H265Y Substitution - Missense 1:65384319-65384319 + TCGA-29-1764-01 COSM1320945 c.94A>G p.R32G Substitution - Missense 1:65364706-65364706 + TCGA-D7-A4YT-01 COSM4009423 c.1443C>A p.P481P Substitution - coding silent 1:65392576-65392576 + TCGA-HU-A4H8-01 COSM4009434 c.2402G>A p.R801Q Substitution - Missense 1:65408722-65408722 + TCGA-AZ-6601-01 COSM1343935 c.1239T>G p.P413P Substitution - coding silent 1:65389569-65389569 + 2492718 COSM4521341 c.936G>A p.Q312Q Substitution - coding silent 1:65386923-65386923 + YUJUBE COSM5381392 c.1407C>T p.I469I Substitution - coding silent 1:65389566-65389566 + TCGA-AZ-4315-01 COSM1343932 c.754C>T p.R252C Substitution - Missense 1:65385836-65385836 + 37T COSM3733903 c.521G>A p.R174Q Substitution - Missense 1:65366174-65366174 + 587270 COSM1204220 c.2245C>T p.R749* Substitution - Nonsense 1:65406058-65406058 + TCGA-DA-A3F8-06 COSM3491785 c.1075C>T p.H359Y Substitution - Missense 1:65386891-65386891 + TCGA-D3-A1Q6-06 COSM3491795 c.2021C>T p.P674L Substitution - Missense 1:65395015-65395015 + CSCC-56-T COSM4521342 c.1107G>A p.Q369Q Substitution - coding silent 1:65386923-65386923 + Pat_41_B COSM5847189 c.1759C>T p.P587S Substitution - Missense 1:65394924-65394924 + 33 COSM5733336 c.114G>T p.K38N Substitution - Missense 1:65364726-65364726 + HCC2998 COSM1667605 c.228G>A p.M76I Substitution - Missense 1:65366052-65366052 + TCGA-D7-A4YV-01 COSM4009417 c.928C>T p.R310W Substitution - Missense 1:65386915-65386915 + M006 COSM1738417 c.2609G>T p.R870M Substitution - Missense 1:65411395-65411395 + TCGA-CA-6718-01 COSM3751355 c.1329G>A p.E443E Substitution - coding silent 1:65392462-65392462 + CSCC-37-T COSM4515423 c.9_10CC>TT p.L4F Substitution - Missense 1:65309754-65309755 + TCGA-AX-A05Z-01 COSM911588 c.607G>T p.G203* Substitution - Nonsense 1:65384304-65384304 + TCGA-FG-8182-01 COSM3966680 c.1548T>G p.A516A Substitution - coding silent 1:65392681-65392681 + TCGA-B5-A0JY-01 COSM911593 c.1254G>A p.R418R Substitution - coding silent 1:65389584-65389584 + TCGA-B5-A11N-01 COSM911598 c.2021A>C p.Q674P Substitution - Missense 1:65401845-65401845 + TCGA-AP-A051-01 COSM911594 c.1445G>A p.S482N Substitution - Missense 1:65392578-65392578 + T3262 COSM4240685 c.2687C>T p.T896M Substitution - Missense 1:65411302-65411302 + TCGA-D3-A1QA-06 COSM3491791 c.1872C>T p.T624T Substitution - coding silent 1:65392834-65392834 + 8034252 COSM3386295 c.1685G>A p.R562H Substitution - Missense 1:65392818-65392818 + TCGA-BR-4257-01 COSM4009410 c.262G>T p.G88W Substitution - Missense 1:65364703-65364703 + 2492719 COSM4521341 c.936G>A p.Q312Q Substitution - coding silent 1:65386923-65386923 + 2290929 COSM4439795 c.2826C>A p.P942P Substitution - coding silent 1:65412938-65412938 + YUJUBE COSM5381391 c.1236C>T p.I412I Substitution - coding silent 1:65389566-65389566 + 260211 COSM3725497 c.748G>A p.G250R Substitution - Missense 1:65385830-65385830 + Pat_45_B COSM5847185 c.668C>T p.P223L Substitution - Missense 1:65385750-65385750 + TCGA-DA-A3F8-06 COSM1687830 c.904C>T p.H302Y Substitution - Missense 1:65386891-65386891 + TCGA-BR-4370-01 COSM4009426 c.1754T>G p.F585C Substitution - Missense 1:65392716-65392716 + TCGA-B5-A0JY-01 COSM911589 c.652C>A p.L218I Substitution - Missense 1:65385734-65385734 + TCGA-29-1774-01 COSM1320942 c.2339C>A p.A780D Substitution - Missense 1:65408659-65408659 + 260211 COSM3725498 c.919G>A p.G307R Substitution - Missense 1:65385830-65385830 + TCGA-FS-A1ZA-06 COSM3491782 c.609G>A p.R203R Substitution - coding silent 1:65379467-65379467 + TCGA-CG-5721-01 COSM4009411 c.173+2T>C p.? Unknown 1:65364787-65364787 + TCGA-ES-A2HS-01 COSM4910401 c.2004C>A p.T668T Substitution - coding silent 1:65401828-65401828 + Pat_16_B COSM5847188 c.1852C>T p.R618C Substitution - Missense 1:65392814-65392814 + MPCC_0037_Pa_C COSM3377259 c.2102G>T p.G701V Substitution - Missense 1:65405915-65405915 + 33 COSM5733337 c.285G>T p.K95N Substitution - Missense 1:65364726-65364726 + Pat_45_B COSM5847186 c.839C>T p.P280L Substitution - Missense 1:65385750-65385750 + TCGA-BR-4257-01 COSM4009409 c.91G>T p.G31W Substitution - Missense 1:65364703-65364703 + TCGA-EE-A2MU-06 COSM3491783 c.577C>T p.R193* Substitution - Nonsense 1:65384274-65384274 + TCGA-CG-4305-01 COSM4009419 c.1171C>A p.L391I Substitution - Missense 1:65389404-65389404 + TCGA-06-0210 COSM2150714 c.833G>A p.R278H Substitution - Missense 1:65386820-65386820 + TCGA-MH-A55W-01 COSM3985197 c.129C>T p.A43A Substitution - coding silent 1:65309874-65309874 + TCGA-QL-A97D-01 COSM5188063 c.2529A>G p.V843V Substitution - coding silent 1:65411315-65411315 + TCGA-BR-6452-01 COSM4009414 c.926G>A p.R309H Substitution - Missense 1:65385837-65385837 + TCGA-D1-A17H-01 COSM911605 c.2698G>T p.A900S Substitution - Missense 1:65412981-65412981 + TCGA-BR-8680-01 COSM4009439 c.2730G>A p.K910K Substitution - coding silent 1:65413013-65413013 + HCC2998 COSM4240622 c.399G>A p.M133I Substitution - Missense 1:65366052-65366052 + 19 COSM5745653 c.1160T>C p.I387T Substitution - Missense 1:65388382-65388382 + 8030232 COSM3772063 c.369C>A p.S123R Substitution - Missense 1:65366193-65366193 + TCGA-BR-4184-01 COSM4009413 c.755G>A p.R252H Substitution - Missense 1:65385837-65385837 + TCGA-85-6560-01 COSM681476 c.1258T>C p.Y420H Substitution - Missense 1:65389588-65389588 + TCGA-D5-6930-01 COSM5166195 c.630G>A p.L210L Substitution - coding silent 1:65379488-65379488 + WSU-HN13 COSM4601566 c.1709C>T p.P570L Substitution - Missense 1:65392671-65392671 + 1019 COSM5730398 c.1297C>G p.P433A Substitution - Missense 1:65389359-65389359 + TCGA-A7-A0DA-01 COSM5196857 c.1966T>A p.F656I Substitution - Missense 1:65394960-65394960 + ICGC_MB57 COSM3764204 c.2387C>T p.P796L Substitution - Missense 1:65406029-65406029 + 8044079 COSM3386293 c.1458G>A p.Q486Q Substitution - coding silent 1:65392591-65392591 + 2492723 COSM5719303 c.2187C>T p.N729N Substitution - coding silent 1:65406000-65406000 + TCGA-EE-A3AE-06 COSM3491803 c.2903C>T p.P968L Substitution - Missense 1:65413015-65413015 + TCGA-FG-8182-01 COSM3966681 c.1719T>G p.A573A Substitution - coding silent 1:65392681-65392681 + HCC2998 COSM1667605 c.228G>A p.M76I Substitution - Missense 1:65366052-65366052 + 2334202 COSM319965 c.1189G>A p.E397K Substitution - Missense 1:65389422-65389422 + CSCC-31-T COSM4512214 c.724C>T p.P242S Substitution - Missense 1:65385806-65385806 + PT16_1 COSM5898089 c.2542G>A p.E848K Substitution - Missense 1:65411328-65411328 + ESCC_154 COSM5645803 c.608G>A p.R203Q Substitution - Missense 1:65379466-65379466 + TCGA-AD-5900-01 COSM1343940 c.2389delA p.K798fs*6 Deletion - Frameshift 1:65408709-65408709 + TCGA-ER-A194-01 COSM3491797 c.2315C>T p.P772L Substitution - Missense 1:65405957-65405957 + ESCC_153 COSM5645561 c.1124C>G p.T375S Substitution - Missense 1:65389357-65389357 + TCGA-43-5668-01 COSM681478 c.1165A>G p.S389G Substitution - Missense 1:65389398-65389398 + HCT15 COSM4240635 c.793C>T p.H265Y Substitution - Missense 1:65384319-65384319 + TCGA-CG-5721-01 COSM4009412 c.344+2T>C p.? Unknown 1:65364787-65364787 + S02403 COSM5700324 c.2270C>T p.S757L Substitution - Missense 1:65406083-65406083 + PCSI_0086_Pa_P COSM3377260 c.2273G>T p.G758V Substitution - Missense 1:65405915-65405915 + TCGA-CC-A7IJ-01 COSM4924421 c.2374A>T p.N792Y Substitution - Missense 1:65408694-65408694 + S02243 COSM5677604 c.2108-2A>T p.? Unknown 1:65401759-65401759 + 2492716 COSM4521342 c.1107G>A p.Q369Q Substitution - coding silent 1:65386923-65386923 + SC_9020 COSM5550706 c.2699C>T p.A900V Substitution - Missense 1:65412982-65412982 + 8067180 COSM3772065 c.2033C>A p.P678H Substitution - Missense 1:65401857-65401857 + 2290929 COSM4439794 c.2655C>A p.P885P Substitution - coding silent 1:65412938-65412938 + RK309_C01 COSM3700779 c.2505C>G p.A835A Substitution - coding silent 1:65411291-65411291 + TCGA-CM-6171-01 COSM5159884 c.1715C>T p.A572V Substitution - Missense 1:65392677-65392677 + PT19_2 COSM5899816 c.1433G>A p.G478E Substitution - Missense 1:65389592-65389592 + TCGA-D1-A17Q-01 COSM911604 c.2595G>T p.V865V Substitution - coding silent 1:65411381-65411381 + TCGA-AX-A0J1-01 COSM911597 c.1878G>A p.T626T Substitution - coding silent 1:65398823-65398823 + SNUH_G22_S1 COSM3997633 c.24T>G p.G8G Substitution - coding silent 1:65364636-65364636 + TCGA-EI-6882-01 COSM3419396 c.1545G>A p.A515A Substitution - coding silent 1:65392678-65392678 + TCGA-AA-3514-01 COSM291463 c.1698_1699insA p.T567fs*16 Insertion - Frameshift 1:65392831-65392832 + PT46 COSM5928062 c.1486G>A p.D496N Substitution - Missense 1:65392619-65392619 + TCGA-AP-A059-01 COSM911601 c.2231C>T p.S744F Substitution - Missense 1:65406044-65406044 + TCGA-AX-A0J0-01 COSM911585 c.250G>T p.D84Y Substitution - Missense 1:65366074-65366074 + TCGA-16-0861-01 COSM3400952 c.430G>A p.V144M Substitution - Missense 1:65379459-65379459 + TCGA-B0-5706-01 COSM464869 c.354T>C p.T118T Substitution - coding silent 1:65366178-65366178 + TCGA-EE-A2M5-06 COSM3386293 c.1458G>A p.Q486Q Substitution - coding silent 1:65392591-65392591 + TCGA-BR-8487-01 COSM4009436 c.2537C>T p.A846V Substitution - Missense 1:65411323-65411323 + ESOSCC152T COSM1172165 c.1093C>G p.L365V Substitution - Missense 1:65389326-65389326 + CHC1594T COSM4804995 c.896C>T p.P299L Substitution - Missense 1:65385807-65385807 + TCGA-51-4079-01 COSM681477 c.1202C>T p.T401M Substitution - Missense 1:65389435-65389435 + TCGA-BR-8487-01 COSM4009437 c.2708C>T p.A903V Substitution - Missense 1:65411323-65411323 + HCT15 COSM2239210 c.622C>T p.H208Y Substitution - Missense 1:65384319-65384319 + TCGA-AN-A0FJ-01 COSM426592 c.1260C>A p.Y420* Substitution - Nonsense 1:65389590-65389590 + QC2-07-T2 COSM5652016 c.672A>G p.G224G Substitution - coding silent 1:65384198-65384198 + TCGA-BR-8680-01 COSM4009440 c.2901G>A p.K967K Substitution - coding silent 1:65413013-65413013 + TCGA-BR-8382-01 COSM4009415 c.860C>A p.P287H Substitution - Missense 1:65386847-65386847 + SC_9008 COSM5549903 c.1507G>A p.A503T Substitution - Missense 1:65392469-65392469 + ESCC_102 COSM5637993 c.104T>G p.V35G Substitution - Missense 1:65309849-65309849 + LUAD-RT-S01840 COSM384699 c.2105G>C p.G702A Substitution - Missense 1:65405918-65405918 + 206T COSM1726874 c.495+1G>T p.? Unknown 1:65379525-65379525 + TCGA-ER-A19G-06 COSM3491793 c.2002C>T p.L668F Substitution - Missense 1:65394996-65394996 + TCGA-CK-5916-01 COSM5154451 c.1857C>T p.R619R Substitution - coding silent 1:65392819-65392819 + TCGA-CK-5913-01 COSM1343931 c.696A>G p.T232T Substitution - coding silent 1:65385778-65385778 + CSCC-62-T COSM4564768 c.1261_1262GG>AA p.G421K Substitution - Missense 1:65389591-65389592 + CSCC-29-T COSM4537056 c.2379G>A p.K793K Substitution - coding silent 1:65406021-65406021 + pfg222T COSM4756658 c.1096C>T p.Q366* Substitution - Nonsense 1:65389329-65389329 + TCGA-ES-A2HS-01 COSM4910402 c.2175C>A p.T725T Substitution - coding silent 1:65401828-65401828 + T1240 COSM4678771 c.1217-1G>A p.? Unknown 1:65389546-65389546 + 19 COSM911590 c.674G>A p.R225H Substitution - Missense 1:65385756-65385756 + CSCC-27-T COSM4473987 c.1716C>T p.T572T Substitution - coding silent 1:65392849-65392849 + Left_iliac_crest COSM5783232 c.283C>T p.R95* Substitution - Nonsense 1:65366107-65366107 + 587376 COSM1204222 c.139G>T p.D47Y Substitution - Missense 1:65364751-65364751 + 084T COSM1730941 c.2494A>G p.N832D Substitution - Missense 1:65411280-65411280 + LUAD-S01302 COSM395856 c.1485G>T p.E495D Substitution - Missense 1:65392618-65392618 + TCGA-A7-A0DA-01 COSM426593 c.1795T>A p.F599I Substitution - Missense 1:65394960-65394960 + TCGA-BR-8686-01 COSM535977 c.1203G>A p.T401T Substitution - coding silent 1:65389436-65389436 + 2492726 COSM2239263 c.2526C>T p.T842T Substitution - coding silent 1:65411312-65411312 + J30_T COSM3977811 c.2095G>T p.G699* Substitution - Nonsense 1:65405908-65405908 + TCGA-D5-6930-01 COSM1343929 c.459G>A p.L153L Substitution - coding silent 1:65379488-65379488 + TCGA-G4-6320-01 COSM3689815 c.2295C>A p.S765R Substitution - Missense 1:65405937-65405937 + CSCC-7-T COSM4513065 c.925C>T p.R309C Substitution - Missense 1:65385836-65385836 + LUAD-B02216 COSM335559 c.255A>G p.I85M Substitution - Missense 1:65366079-65366079 + TCGA-AX-A0J0-01 COSM911587 c.437G>A p.R146Q Substitution - Missense 1:65379466-65379466 + CSCC-31-T COSM4512215 c.895C>T p.P299S Substitution - Missense 1:65385806-65385806 + 8067180 COSM3772066 c.2204C>A p.P735H Substitution - Missense 1:65401857-65401857 + TCGA-G4-6304-01 COSM1343939 c.2138C>T p.A713V Substitution - Missense 1:65405951-65405951 + T368 COSM4678769 c.999C>T p.D333D Substitution - coding silent 1:65388392-65388392 + TCGA-G4-6304-01 COSM4240675 c.2309C>T p.A770V Substitution - Missense 1:65405951-65405951 + T3262 COSM2239261 c.2516C>T p.T839M Substitution - Missense 1:65411302-65411302 + TCGA-UB-A7MB-01 COSM4931892 c.1104A>G p.L368L Substitution - coding silent 1:65386920-65386920 + TCGA-CM-6171-01 COSM1343936 c.1544C>T p.A515V Substitution - Missense 1:65392677-65392677 + TCGA-BR-6802-01 COSM911590 c.674G>A p.R225H Substitution - Missense 1:65385756-65385756 + PCSI_0112_Pa_P COSM3378045 c.1981G>A p.G661R Substitution - Missense 1:65401805-65401805 + TCGA-BG-A0M0-01 COSM911600 c.2139G>A p.A713A Substitution - coding silent 1:65405952-65405952 + TCGA-F5-6814-01 COSM3419392 c.595C>T p.R199* Substitution - Nonsense 1:65384292-65384292 + HCC074T COSM5810040 c.2504C>A p.A835D Substitution - Missense 1:65411290-65411290 + TCGA-CG-4305-01 COSM4009420 c.1342C>A p.L448I Substitution - Missense 1:65389404-65389404 + CSCC-40-T COSM4570909 c.346T>G p.Y116D Substitution - Missense 1:65365886-65365886 + TCGA-UB-A7MB-01 COSM4931891 c.933A>G p.L311L Substitution - coding silent 1:65386920-65386920 + D-05 COSM4766462 c.2371C>A p.Q791K Substitution - Missense 1:65406013-65406013 + QC2-07-T2 COSM5652015 c.501A>G p.G167G Substitution - coding silent 1:65384198-65384198 + TCGA-D1-A17Q-01 COSM911602 c.2246G>A p.R749Q Substitution - Missense 1:65406059-65406059 + TCGA-F5-6864-01 COSM3378046 c.2152G>A p.G718R Substitution - Missense 1:65401805-65401805 + TCGA-EK-A2PI-01 COSM911586 c.284G>A p.R95Q Substitution - Missense 1:65366108-65366108 + TCGA-EB-A3Y7-01 COSM3491787 c.1348T>G p.S450A Substitution - Missense 1:65389410-65389410 + TCGA-BR-6452-01 COSM4009431 c.2285C>T p.P762L Substitution - Missense 1:65405927-65405927 + CSCC-29-T COSM4537055 c.2208G>A p.K736K Substitution - coding silent 1:65406021-65406021 + TCGA-EB-A3Y7-01 COSM3491786 c.1177T>G p.S393A Substitution - Missense 1:65389410-65389410 + 8044079 COSM3386294 c.1629G>A p.Q543Q Substitution - coding silent 1:65392591-65392591 + TCGA-BR-4256-01 COSM4009433 c.2535T>C p.G845G Substitution - coding silent 1:65408684-65408684 + TCGA-63-5131-01 COSM681481 c.754C>A p.R252S Substitution - Missense 1:65385836-65385836 + I2L-P7-Tumor-Organoid COSM5352554 c.1585delG p.G530fs*44 Deletion - Frameshift 1:65392718-65392718 + PD4133a COSM160541 c.2329C>T p.Q777* Substitution - Nonsense 1:65408649-65408649 + TCGA-Q1-A73O-01 COSM4834804 c.1538C>G p.S513* Substitution - Nonsense 1:65392500-65392500 + PD4937a COSM160540 c.164C>G p.S55C Substitution - Missense 1:65364776-65364776 + LUAD-D01382 COSM337075 c.1088T>C p.V363A Substitution - Missense 1:65389321-65389321 + TCGA-EI-6917-01 COSM2239238 c.1854G>A p.S618S Substitution - coding silent 1:65395019-65395019 + LUAD_E00565 COSM388848 c.1129C>T p.P377S Substitution - Missense 1:65389362-65389362 + ESCC_154 COSM911587 c.437G>A p.R146Q Substitution - Missense 1:65379466-65379466 + STC232 COSM5053647 c.860C>A p.P287H Substitution - Missense 1:65385771-65385771 + TCGA-AA-A010-01 COSM280542 c.1465G>A p.A489T Substitution - Missense 1:65392598-65392598 + CSCC-27-T COSM4473988 c.1887C>T p.T629T Substitution - coding silent 1:65392849-65392849 + 2_RESISTANT COSM1721833 c.2033C>T p.P678L Substitution - Missense 1:65401857-65401857 + TCGA-A5-A0G9-01 COSM911590 c.674G>A p.R225H Substitution - Missense 1:65385756-65385756 + sysucc-783T COSM5484039 c.2491+2T>C p.? Unknown 1:65406135-65406135 + TCGA-D7-A4YT-01 COSM4009424 c.1614C>A p.P538P Substitution - coding silent 1:65392576-65392576 + TCGA-BH-A0HP-01 COSM5217668 c.2813C>G p.A938G Substitution - Missense 1:65412925-65412925 + HCC074T COSM5810041 c.2675C>A p.A892D Substitution - Missense 1:65411290-65411290 + 2492723 COSM5719304 c.2358C>T p.N786N Substitution - coding silent 1:65406000-65406000 + TCGA-F5-6814-01 COSM3419393 c.766C>T p.R256* Substitution - Nonsense 1:65384292-65384292 + LUAD-CHTN-MAD06-00668 COSM358126 c.2717A>T p.N906I Substitution - Missense 1:65413000-65413000 + TCGA-ER-A19G-06 COSM3491792 c.1831C>T p.L611F Substitution - Missense 1:65394996-65394996 + TCGA-F5-6864-01 COSM3378045 c.1981G>A p.G661R Substitution - Missense 1:65401805-65401805 + TCGA-16-0861-01 COSM3400953 c.601G>A p.V201M Substitution - Missense 1:65379459-65379459 + PCSI_0112_Pa_P COSM3378046 c.2152G>A p.G718R Substitution - Missense 1:65401805-65401805 + TCGA-AZ-6601-01 COSM5142046 c.1410T>G p.P470P Substitution - coding silent 1:65389569-65389569 + CH-109-T2 COSM5650543 c.259G>T p.A87S Substitution - Missense 1:65364700-65364700 + TCGA-BR-6452-01 COSM4009438 c.2839G>A p.A947T Substitution - Missense 1:65412951-65412951 + ESCC_BICR_050T COSM5440034 c.1953A>G p.G651G Substitution - coding silent 1:65401777-65401777 + 2_PRE-TREATMENT COSM1721833 c.2033C>T p.P678L Substitution - Missense 1:65401857-65401857 + TCGA-EE-A2GM-06 COSM3491799 c.2408C>T p.P803L Substitution - Missense 1:65406050-65406050 + TCGA-AX-A05Z-01 COSM911586 c.284G>A p.R95Q Substitution - Missense 1:65366108-65366108 + 2521259 COSM5889498 c.2066C>T p.S689F Substitution - Missense 1:65405879-65405879 + 234 COSM911590 c.674G>A p.R225H Substitution - Missense 1:65385756-65385756 + S00472 COSM5657622 c.17A>G p.N6S Substitution - Missense 1:65264927-65264927 + TCGA-BR-4370-01 COSM4009425 c.1583T>G p.F528C Substitution - Missense 1:65392716-65392716 + CSCC-56-T COSM4521341 c.936G>A p.Q312Q Substitution - coding silent 1:65386923-65386923 + PT36 COSM5914611 c.1606C>T p.P536S Substitution - Missense 1:65392739-65392739 + WSU-HN13 COSM4601565 c.1538C>T p.P513L Substitution - Missense 1:65392671-65392671 + ME100L COSM230857 c.2450C>T p.P817L Substitution - Missense 1:65408770-65408770 + PT23_1 COSM5902461 c.2540G>A p.G847D Substitution - Missense 1:65408689-65408689 + sysucc-1397T COSM5473766 c.2365C>T p.Q789* Substitution - Nonsense 1:65406007-65406007 + J30_T COSM3977812 c.2266G>T p.G756* Substitution - Nonsense 1:65405908-65405908 + CSCC-38-T COSM4480471 c.2250C>T p.P750P Substitution - coding silent 1:65406063-65406063 + TCGA-D3-A1Q6-06 COSM3491794 c.1850C>T p.P617L Substitution - Missense 1:65395015-65395015 + TCGA-AN-A0FJ-01 COSM5206819 c.1431C>A p.Y477* Substitution - Nonsense 1:65389590-65389590 + PT34 COSM5910169 c.2495G>A p.G832E Substitution - Missense 1:65408644-65408644 + 19 COSM5745652 c.989T>C p.I330T Substitution - Missense 1:65388382-65388382 + SC_9046 COSM5555572 c.1403G>T p.G468V Substitution - Missense 1:65392536-65392536 + TCGA-EI-6917-01 COSM3419395 c.989G>A p.R330Q Substitution - Missense 1:65385900-65385900 + 2492718 COSM4521342 c.1107G>A p.Q369Q Substitution - coding silent 1:65386923-65386923 + YUGAFFE COSM1687830 c.904C>T p.H302Y Substitution - Missense 1:65386891-65386891 + CSCC-52-T COSM4527673 c.1482G>A p.E494E Substitution - coding silent 1:65392444-65392444 + PT35 COSM5911297 c.1133G>A p.W378* Substitution - Nonsense 1:65389366-65389366 + TCGA-D7-A4YV-01 COSM4009418 c.1099C>T p.R367W Substitution - Missense 1:65386915-65386915 + 8030232 COSM3772064 c.540C>A p.S180R Substitution - Missense 1:65366193-65366193 + T1240 COSM4678772 c.1388-1G>A p.? Unknown 1:65389546-65389546 + CHC1594T COSM4804994 c.725C>T p.P242L Substitution - Missense 1:65385807-65385807 + TLE45 COSM3378046 c.2152G>A p.G718R Substitution - Missense 1:65401805-65401805 + 587376 COSM1204223 c.350G>A p.R117Q Substitution - Missense 1:65366174-65366174 + TCGA-C5-A1BQ-01 COSM4842537 c.40G>T p.D14Y Substitution - Missense 1:65309785-65309785 + ICGC_MB57 COSM3764203 c.2216C>T p.P739L Substitution - Missense 1:65406029-65406029 + CSCC-32-T COSM4529113 c.1586G>A p.G529D Substitution - Missense 1:65392548-65392548 + HCT15 COSM1343939 c.2138C>T p.A713V Substitution - Missense 1:65405951-65405951 + TCGA-13-1499-01 COSM79167 c.1135G>T p.E379* Substitution - Nonsense 1:65389368-65389368 + TCGA-EE-A3AE-06 COSM3491802 c.2732C>T p.P911L Substitution - Missense 1:65413015-65413015 + Pat_16_B COSM5847187 c.1681C>T p.R561C Substitution - Missense 1:65392814-65392814 + TCGA-EI-6917-01 COSM3419394 c.818G>A p.R273Q Substitution - Missense 1:65385900-65385900 + TCGA-06-0210-02 COSM2150714 c.833G>A p.R278H Substitution - Missense 1:65386820-65386820 + TCGA-G4-6320-01 COSM3689814 c.2124C>A p.S708R Substitution - Missense 1:65405937-65405937 + CSCC-38-T COSM4480472 c.2421C>T p.P807P Substitution - coding silent 1:65406063-65406063 + PT16_1 COSM5898090 c.2713G>A p.E905K Substitution - Missense 1:65411328-65411328 + 2492717 COSM4521342 c.1107G>A p.Q369Q Substitution - coding silent 1:65386923-65386923 + M006 COSM3307726 c.2780G>T p.R927M Substitution - Missense 1:65411395-65411395 + TCGA-ER-A194-01 COSM3491796 c.2144C>T p.P715L Substitution - Missense 1:65405957-65405957 + TCGA-EE-A2GM-06 COSM3491798 c.2237C>T p.P746L Substitution - Missense 1:65406050-65406050 + TCGA-EI-6882-01 COSM3419397 c.1716G>A p.A572A Substitution - coding silent 1:65392678-65392678 + LUAD-S01357 COSM386062 c.104G>C p.S35T Substitution - Missense 1:65364716-65364716 + SC_9008 COSM5549902 c.1336G>A p.A446T Substitution - Missense 1:65392469-65392469 + T3262 COSM4678774 c.1792C>A p.Q598K Substitution - Missense 1:65392754-65392754 + TCGA-ER-A193-06 COSM3491779 c.235C>T p.P79S Substitution - Missense 1:65366059-65366059 + 2492717 COSM4521341 c.936G>A p.Q312Q Substitution - coding silent 1:65386923-65386923 + TCGA-66-2783-01 COSM681483 c.391C>T p.P131S Substitution - Missense 1:65379420-65379420 + SC_9047 COSM5551009 c.819T>C p.C273C Substitution - coding silent 1:65385730-65385730 + LUAD-E01317 COSM403588 c.2386G>T p.D796Y Substitution - Missense 1:65408706-65408706 + SH-0622 COSM5018745 c.727delT p.F244fs*31 Deletion - Frameshift 1:65385809-65385809 + ESO15T COSM1172164 c.179C>T p.T60I Substitution - Missense 1:65365890-65365890 + M030 COSM1738423 c.1510G>T p.G504W Substitution - Missense 1:65392643-65392643 + CSCC-31-T COSM4529322 c.1601G>A p.G534E Substitution - Missense 1:65392563-65392563 + PD11394a COSM1343936 c.1544C>T p.A515V Substitution - Missense 1:65392677-65392677 + 3N63-VS-3T63 COSM4984503 c.289T>C p.F97L Substitution - Missense 1:65366113-65366113 + LUAD-D02085 COSM363156 c.1564G>T p.E522* Substitution - Nonsense 1:65392697-65392697 + TCGA-G2-A2EJ-01 COSM1296648 c.2360C>G p.S787C Substitution - Missense 1:65408680-65408680 + TCGA-CH-5754-01 COSM1126957 c.457C>A p.L153M Substitution - Missense 1:65379486-65379486 + TCGA-EE-A2MR-06 COSM3491789 c.1778C>T p.P593L Substitution - Missense 1:65392740-65392740 + PTC-14C COSM4144160 c.2046T>G p.S682R Substitution - Missense 1:65398820-65398820 + TCGA-D3-A1QA-06 COSM3491790 c.1701C>T p.T567T Substitution - coding silent 1:65392834-65392834 + CSCC-31-T COSM4559051 c.78G>A p.G26G Substitution - coding silent 1:65309823-65309823 + LUAD-NYU259 COSM371614 c.2185A>T p.N729Y Substitution - Missense 1:65405998-65405998 + TCGA-EE-A2MR-06 COSM3491788 c.1607C>T p.P536L Substitution - Missense 1:65392740-65392740 + 19 COSM3730805 c.845G>A p.R282H Substitution - Missense 1:65385756-65385756 + TCGA-FU-A3HZ-01 COSM4839148 c.212C>A p.S71Y Substitution - Missense 1:65365923-65365923 + T3503 COSM4678775 c.2310G>A p.A770A Substitution - coding silent 1:65405952-65405952 + TCGA-B5-A0JY-01 COSM911584 c.178A>G p.T60A Substitution - Missense 1:65365889-65365889 + ESO-179 COSM1250459 c.1502G>T p.G501V Substitution - Missense 1:65392635-65392635 + CSCC-27-T COSM2239267 c.2682C>T p.F894F Substitution - coding silent 1:65412965-65412965 + TCGA-CK-5913-01 COSM5153909 c.867A>G p.T289T Substitution - coding silent 1:65385778-65385778 + TCGA-FU-A3HZ-01 COSM4840572 c.2844G>T p.K948N Substitution - Missense 1:65412956-65412956 + 587380 COSM1204221 c.1955G>T p.S652I Substitution - Missense 1:65401779-65401779 + CSCC-52-T COSM4527672 c.1311G>A p.E437E Substitution - coding silent 1:65392444-65392444 + TCGA-EE-A2MU-06 COSM3491784 c.748C>T p.R250* Substitution - Nonsense 1:65384274-65384274 + 2296_T COSM3977810 c.655G>A p.V219I Substitution - Missense 1:65379513-65379513 + RK082_C01 COSM1627148 c.1094T>A p.L365Q Substitution - Missense 1:65389327-65389327 + TCGA-BR-8686-01 COSM4009421 c.1374G>A p.T458T Substitution - coding silent 1:65389436-65389436 + CLL024 COSM1290225 c.2127G>A p.S709S Substitution - coding silent 1:65405940-65405940 + TCGA-AZ-4315-01 COSM1343941 c.2668G>A p.A890T Substitution - Missense 1:65412951-65412951 + PT34 COSM5910168 c.2324G>A p.G775E Substitution - Missense 1:65408644-65408644 + TCGA-D9-A6EC-06 COSM4402870 c.630-2A>C p.? Unknown 1:65385710-65385710 + RK309_C01 COSM3700780 c.2676C>G p.A892A Substitution - coding silent 1:65411291-65411291 + TCGA-AX-A0J1-01 COSM911595 c.1517C>T p.A506V Substitution - Missense 1:65392650-65392650 + 2296_T COSM3977809 c.484G>A p.V162I Substitution - Missense 1:65379513-65379513 + TCGA-AP-A059-01 COSM911603 c.2415G>T p.E805D Substitution - Missense 1:65408735-65408735 + 2492715 COSM4521342 c.1107G>A p.Q369Q Substitution - coding silent 1:65386923-65386923 + MPCC_0037_Pa_C COSM3377260 c.2273G>T p.G758V Substitution - Missense 1:65405915-65405915 + SH-0622 COSM5018746 c.898delT p.F301fs*31 Deletion - Frameshift 1:65385809-65385809 + PT23_1 COSM5902460 c.2369G>A p.G790D Substitution - Missense 1:65408689-65408689 + ESO-859 COSM1238704 c.1707G>A p.A569A Substitution - coding silent 1:65392840-65392840 + Mx38 COSM50789 c.200C>G p.T67S Substitution - Missense 1:65365911-65365911 + 2492725 COSM2239263 c.2526C>T p.T842T Substitution - coding silent 1:65411312-65411312 + PT46 COSM5928063 c.1657G>A p.D553N Substitution - Missense 1:65392619-65392619 + D-05 COSM4766461 c.2200C>A p.Q734K Substitution - Missense 1:65406013-65406013 + TLE45 COSM3378045 c.1981G>A p.G661R Substitution - Missense 1:65401805-65401805 + SC_9047 COSM5551008 c.648T>C p.C216C Substitution - coding silent 1:65385730-65385730 + TCGA-EI-6917-01 COSM3419398 c.2025G>A p.S675S Substitution - coding silent 1:65395019-65395019 + TCGA-FU-A3HZ-01 COSM4840571 c.2673G>T p.K891N Substitution - Missense 1:65412956-65412956 + PT36 COSM5914612 c.1777C>T p.P593S Substitution - Missense 1:65392739-65392739 + STC232 COSM5053646 c.689C>A p.P230H Substitution - Missense 1:65385771-65385771 + 3N63-VS-3T63 COSM4984504 c.460T>C p.F154L Substitution - Missense 1:65366113-65366113 + PD11394a COSM5159884 c.1715C>T p.A572V Substitution - Missense 1:65392677-65392677 + 2492715 COSM4521341 c.936G>A p.Q312Q Substitution - coding silent 1:65386923-65386923 + 2492724 COSM4240687 c.2697C>T p.T899T Substitution - coding silent 1:65411312-65411312 + ESCC_BICR_050T COSM5440035 c.2124A>G p.G708G Substitution - coding silent 1:65401777-65401777 + TCGA-29-1703-01 COSM1320943 c.2296C>T p.R766C Substitution - Missense 1:65406109-65406109 + TCGA-Q1-A73O-01 COSM4834803 c.1367C>G p.S456* Substitution - Nonsense 1:65392500-65392500 + TCGA-EK-A2PI-01 COSM4831238 c.455G>A p.R152Q Substitution - Missense 1:65366108-65366108 + 2492721 COSM5719303 c.2187C>T p.N729N Substitution - coding silent 1:65406000-65406000 + SC_9020 COSM5550707 c.2870C>T p.A957V Substitution - Missense 1:65412982-65412982 + TCGA-CA-6718-01 COSM3751356 c.1500G>A p.E500E Substitution - coding silent 1:65392462-65392462 + YUPTER COSM5381393 c.1480C>T p.P494S Substitution - Missense 1:65392613-65392613 + 2492725 COSM4240687 c.2697C>T p.T899T Substitution - coding silent 1:65411312-65411312 + Pat_41_B COSM5847192 c.2394G>A p.M798I Substitution - Missense 1:65406036-65406036 + TCGA-ER-A193-06 COSM3491780 c.406C>T p.P136S Substitution - Missense 1:65366059-65366059 + CSCC-40-T COSM4570908 c.175T>G p.Y59D Substitution - Missense 1:65365886-65365886 + 2521249 COSM5887556 c.2191C>T p.Q731* Substitution - Nonsense 1:65401844-65401844 + TCGA-29-1699-01 COSM1320944 c.2041G>A p.D681N Substitution - Missense 1:65401865-65401865 + TCGA-BR-8382-01 COSM4009416 c.1031C>A p.P344H Substitution - Missense 1:65386847-65386847 + Left_iliac_crest COSM5783233 c.454C>T p.R152* Substitution - Nonsense 1:65366107-65366107 + CH-109-T2 COSM5650542 c.88G>T p.A30S Substitution - Missense 1:65364700-65364700 + TCGA-EI-6917-01 COSM3419390 c.329A>C p.N110T Substitution - Missense 1:65366153-65366153 + TCGA-B5-A11E-01 COSM911586 c.284G>A p.R95Q Substitution - Missense 1:65366108-65366108 + TCGA-CK-5916-01 COSM1343937 c.1686C>T p.R562R Substitution - coding silent 1:65392819-65392819 + TCGA-BR-6452-01 COSM4009430 c.2114C>T p.P705L Substitution - Missense 1:65405927-65405927 + 2492716 COSM4521341 c.936G>A p.Q312Q Substitution - coding silent 1:65386923-65386923 + sysucc-783T COSM5484038 c.2319+3T>C p.? Unknown 1:65406135-65406135 + 255 COSM3731698 c.372T>G p.T124T Substitution - coding silent 1:65365912-65365912 + TCGA-D9-A6EC-06 COSM4402871 c.801-2A>C p.? Unknown 1:65385710-65385710 + TCGA-BR-6452-01 COSM1343941 c.2668G>A p.A890T Substitution - Missense 1:65412951-65412951 + M030 COSM3307739 c.1681G>T p.G561W Substitution - Missense 1:65392643-65392643 + TCGA-BC-A217-01 COSM4936872 c.23G>A p.R8Q Substitution - Missense 1:65309768-65309768 + CSCC-62-T COSM2239210 c.622C>T p.H208Y Substitution - Missense 1:65384319-65384319 + sysucc-1213T COSM5764224 c.60A>G p.G20G Substitution - coding silent 1:65364672-65364672 + SNUH_G22_S1 COSM3997634 c.195T>G p.G65G Substitution - coding silent 1:65364636-65364636 + 11M COSM3491780 c.406C>T p.P136S Substitution - Missense 1:65366059-65366059 + CSCC-27-T COSM4240691 c.2853C>T p.F951F Substitution - coding silent 1:65412965-65412965 + T3503 COSM911600 c.2139G>A p.A713A Substitution - coding silent 1:65405952-65405952 + CSCC-32-T COSM4529112 c.1415G>A p.G472D Substitution - Missense 1:65392548-65392548 + YUPTER COSM5381394 c.1651C>T p.P551S Substitution - Missense 1:65392613-65392613 + T368 COSM4678770 c.1170C>T p.D390D Substitution - coding silent 1:65388392-65388392 + T3262 COSM4678773 c.1621C>A p.Q541K Substitution - Missense 1:65392754-65392754 + 2492724 COSM2239263 c.2526C>T p.T842T Substitution - coding silent 1:65411312-65411312 + 2492720 COSM5719303 c.2187C>T p.N729N Substitution - coding silent 1:65406000-65406000 + TCGA-HU-A4G8-01 COSM2239224 c.1308G>A p.S436S Substitution - coding silent 1:65392441-65392441 + S02403 COSM5700325 c.2441C>T p.S814L Substitution - Missense 1:65406083-65406083 + TCGA-FS-A1ZA-06 COSM3491781 c.438G>A p.R146R Substitution - coding silent 1:65379467-65379467 + 2492726 COSM4240687 c.2697C>T p.T899T Substitution - coding silent 1:65411312-65411312 + TCGA-BR-4184-01 COSM4009414 c.926G>A p.R309H Substitution - Missense 1:65385837-65385837 + PCSI_0086_Pa_P COSM3377259 c.2102G>T p.G701V Substitution - Missense 1:65405915-65405915 + I2L-P7-Tumor-Organoid COSM5352555 c.1756delG p.G587fs*44 Deletion - Frameshift 1:65392718-65392718 + 2492722 COSM5719303 c.2187C>T p.N729N Substitution - coding silent 1:65406000-65406000 + TCGA-60-2698-01 COSM681480 c.852C>G p.I284M Substitution - Missense 1:65386839-65386839 + ESCC_153 COSM5645562 c.1295C>G p.T432S Substitution - Missense 1:65389357-65389357 + 2521249 COSM5887555 c.2020C>T p.Q674* Substitution - Nonsense 1:65401844-65401844 + PT27 COSM5905393 c.2723G>A p.W908* Substitution - Nonsense 1:65411338-65411338 + PT19_2 COSM5899815 c.1262G>A p.G421E Substitution - Missense 1:65389592-65389592 + CSCC-7-T COSM1343932 c.754C>T p.R252C Substitution - Missense 1:65385836-65385836 + PT37 COSM5917141 c.1003C>T p.R335C Substitution - Missense 1:65386819-65386819 + 255 COSM3731697 c.201T>G p.T67T Substitution - coding silent 1:65365912-65365912 + TCGA-BH-A0HP-01 COSM426594 c.2642C>G p.A881G Substitution - Missense 1:65412925-65412925 + TCGA-AX-A0J1-01 COSM911591 c.749G>A p.G250E Substitution - Missense 1:65385831-65385831 + Pat_41_B COSM5847191 c.2223G>A p.M741I Substitution - Missense 1:65406036-65406036 + SC_9046 COSM5555573 c.1574G>T p.G525V Substitution - Missense 1:65392536-65392536 + PT35 COSM5911298 c.1304G>A p.W435* Substitution - Nonsense 1:65389366-65389366 + TCGA-A8-A0A6-01 COSM3805776 c.1699A>C p.T567P Substitution - Missense 1:65392832-65392832 + TCGA-AD-5900-01 COSM5128136 c.2560delA p.K855fs*6 Deletion - Frameshift 1:65408709-65408709 + PR-00-1165 COSM244105 c.885C>T p.D295D Substitution - coding silent 1:65386872-65386872 + S02243 COSM5677603 c.1937-2A>T p.? Unknown 1:65401759-65401759 + TCGA-AZ-4315-01 COSM4009438 c.2839G>A p.A947T Substitution - Missense 1:65412951-65412951 + 8034252 COSM3386296 c.1856G>A p.R619H Substitution - Missense 1:65392818-65392818 + TCGA-BR-6802-01 COSM3730805 c.845G>A p.R282H Substitution - Missense 1:65385756-65385756 + TCGA-BR-4256-01 COSM4009432 c.2364T>C p.G788G Substitution - coding silent 1:65408684-65408684 + NCI-H209 COSM23321 c.1868C>G p.A623G Substitution - Missense 1:65398813-65398813 + TCGA-CC-A7IJ-01 COSM4924422 c.2545A>T p.N849Y Substitution - Missense 1:65408694-65408694 + PT27 COSM5905392 c.2552G>A p.W851* Substitution - Nonsense 1:65411338-65411338 + CSCC-62-T COSM4564769 c.1432_1433GG>AA p.G478K Substitution - Missense 1:65389591-65389592 + TCGA-FU-A3HZ-01 COSM4839149 c.383C>A p.S128Y Substitution - Missense 1:65365923-65365923 + TCGA-AP-A05P-01 COSM911592 c.1190A>G p.E397G Substitution - Missense 1:65389423-65389423 + TCGA-22-1016-01 COSM681475 c.1434C>G p.V478V Substitution - coding silent 1:65392567-65392567 + CHC1594T COSM4804995 c.896C>T p.P299L Substitution - Missense 1:65385807-65385807 + HCT15 COSM4240675 c.2309C>T p.A770V Substitution - Missense 1:65405951-65405951 + sysucc-1397T COSM5473765 c.2194C>T p.Q732* Substitution - Nonsense 1:65406007-65406007 + pfg222T COSM4756659 c.1267C>T p.Q423* Substitution - Nonsense 1:65389329-65389329 + TCGA-EE-A2M5-06 COSM3386294 c.1629G>A p.Q543Q Substitution - coding silent 1:65392591-65392591 + TCGA-06-0210-02 COSM3400954 c.1004G>A p.R335H Substitution - Missense 1:65386820-65386820 + CHC1594T COSM4804994 c.725C>T p.P242L Substitution - Missense 1:65385807-65385807 + 2492720 COSM5719304 c.2358C>T p.N786N Substitution - coding silent 1:65406000-65406000 + 2492719 COSM4521342 c.1107G>A p.Q369Q Substitution - coding silent 1:65386923-65386923 + Pat_41_B COSM5847190 c.1930C>T p.P644S Substitution - Missense 1:65394924-65394924 + 2492721 COSM5719304 c.2358C>T p.N786N Substitution - coding silent 1:65406000-65406000 + TCGA-EB-A5UL-06 COSM3491800 c.2420G>A p.R807K Substitution - Missense 1:65408740-65408740 + TCGA-EB-A5UL-06 COSM3491801 c.2591G>A p.R864K Substitution - Missense 1:65408740-65408740 + TCGA-HU-A4G8-01 COSM4009422 c.1479G>A p.S493S Substitution - coding silent 1:65392441-65392441 + 234 COSM3730805 c.845G>A p.R282H Substitution - Missense 1:65385756-65385756 + TCGA-34-5239-01 COSM681479 c.983G>T p.G328V Substitution - Missense 1:65388376-65388376 + TCGA-AZ-4315-01 COSM4513065 c.925C>T p.R309C Substitution - Missense 1:65385836-65385836 + 2492722 COSM5719304 c.2358C>T p.N786N Substitution - coding silent 1:65406000-65406000 + TCGA-BR-6452-01 COSM4009413 c.755G>A p.R252H Substitution - Missense 1:65385837-65385837 + 1019 COSM5730397 c.1126C>G p.P376A Substitution - Missense 1:65389359-65389359 + PTC-14C COSM4144159 c.1875T>G p.S625R Substitution - Missense 1:65398820-65398820 + LUAD-CHTN-Z4716A COSM361360 c.1985C>A p.S662Y Substitution - Missense 1:65401809-65401809 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.647621;Hs.647642;Hs.647643 1p31.3 608375

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer - A Frameshift p.T567Nfs*16 c.1699dupA 1 65858515 COREAD A G Missense p.N140S c.419A>G 1 65845131 HNSC A G Missense p.S389G c.1165A>G 1 65855081 LUSC A G Missense p.Y886C c.2657A>G 1 65878623 LUAD A G Synonymous p.L195L c.585A>G 1 65849965 CM A T Missense p.E818V c.2453A>T 1 65874456 LUAD C A 3-UTRSNV . c.2739+2048C>A 1 65880753 MB CACAT - 3-UTRDeletion . c.2739+2461_2739+2465delCACAT 1 65881166 CLL C A Missense p.H380N c.1138C>A 1 65855054 CM C A Missense p.L391I c.1171C>A 1 65855087 STAD C A Missense p.L611I c.1831C>A 1 65860679 CM C A Missense p.R252S c.754C>A 1 65851519 LUSC C A Nonsense p.Y420* c.1260C>A 1 65855273 BRCA CC TT Missense p.S299F c.896_897delinsTT 1 65852566 CM C G Missense p.A623G c.1868C>G 1 65864496 SCLC C G Missense p.A881G c.2642C>G 1 65878608 BRCA C G Missense p.S55C c.164C>G 1 65830459 BRCA C G Missense p.S787C c.2360C>G 1 65874363 BLCA C G Synonymous p.V478V c.1434C>G 1 65858250 LUSC C T 3-UTRSNV . c.2739+2469C>T 1 65881174 HC C T Missense p.A605V c.1814C>T 1 65860662 LUAD C T Missense p.H302Y c.904C>T 1 65852574 CM C T Missense p.L611F c.1831C>T 1 65860679 CM C T Missense p.P131S c.391C>T 1 65845103 LUSC C T Missense p.P715L c.2144C>T 1 65871640 CM C T Missense p.P739L c.2216C>T 1 65871712 MB C T Missense p.P746L c.2237C>T 1 65871733 CM C T Missense p.P79S c.235C>T 1 65831742 CM C T Missense p.P817L c.2450C>T 1 65874453 CM C T Missense p.P911L c.2732C>T 1 65878698 CM C T Missense p.S171L c.512C>T 1 65849892 LUAD C T Missense p.S186F c.557C>T 1 65849937 ALL C T Missense p.S4F c.11C>T 1 65730604 CM C T Missense p.S663L c.1988C>T 1 65867495 BRCA C T Missense p.T401M c.1202C>T 1 65855118 LUSC C T Nonsense p.Q777* c.2329C>T 1 65874332 BRCA C T Nonsense p.R193* c.577C>T 1 65849957 CM C T Synonymous p.L600L c.1798C>T 1 65860646 CM C T Synonymous p.T567T c.1701C>T 1 65858517 CM G A 3-UTRSNV . c.2739+110G>A 1 65878815 CM G A 3-UTRSNV . c.2739+1729G>A 1 65880434 HC G A IntronicSNV . c.1868-1166G>A 1 65863330 CLL G A Missense p.E397K c.1189G>A 1 65855105 SCLC G A Missense p.R225H c.674G>A 1 65851439 STAD G A Missense p.R278H c.833G>A 1 65852503 GBM G A Missense p.V144M c.430G>A 1 65845142 GBM G A Missense p.V159I c.475G>A 1 65845187 LUAD G A Missense p.V91I c.271G>A 1 65831778 LUAD G A Synonymous p.Q486Q c.1458G>A 1 65858274 CM G A Synonymous p.R146R c.438G>A 1 65845150 CM G A Synonymous p.S709S c.2127G>A 1 65871623 CLL G A Synonymous p.T401T c.1203G>A 1 65855119 LUAD G A Synonymous p.V629V c.1887G>A 1 65864515 LUAD G T Missense p.C251F c.752G>T 1 65851517 LUAD G T Missense p.G31W c.91G>T 1 65830386 CM G T Missense p.G31W c.91G>T 1 65830386 STAD G T Missense p.G328V c.983G>T 1 65854059 LUSC G T Missense p.G501V c.1502G>T 1 65858318 ESCA G T Nonsense p.E379* c.1135G>T 1 65855051 OV G T Nonsense p.E459* c.1375G>T 1 65858191 HNSC G T SpliceAcceptorSNV . c.2057-1G>T 1 65871552 LUAD T A Missense p.F599I c.1795T>A 1 65860643 BRCA T C Missense p.V363A c.1088T>C 1 65855004 LUAD T C Missense p.Y420H c.1258T>C 1 65855271 LUSC T C Synonymous p.G788G c.2364T>C 1 65874367 STAD T C Synonymous p.T118T c.354T>C 1 65831861 RCCC TCTCCCCT - IntronicDeletion . c.23-195_23-188delTCTCCCCT 1 65830123 CLL TG AT MultiAAMissense p.C216_D217delins* c.648_649delinsAT 1 65851413 LUAD T G Missense p.F528C c.1583T>G 1 65858399 STAD T G Synonymous p.A516A c.1548T>G 1 65858364 LGG - T IntronicInsertion . c.2463+170dupT 1 65874627 CM