Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 3 49321491 49321491 + Silent SNP G G A TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 g.chr3:49321491G>A c.2469C>T c.(2467-2469)gtC>gtT p.V823V BLCA 3 49321496 49321496 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 g.chr3:49321496C>G c.2464G>C c.(2464-2466)Gtg>Ctg p.V822L BLCA 3 49321969 49321971 + In_Frame_Del DEL TCT TCT - TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-11A-11D-A21Z-08 g.chr3:49321969_49321971delTCT c.2318_2320delAGA c.(2317-2322)aagacc>acc p.K773del BLCA 3 49323684 49323684 + Missense_Mutation SNP C C G TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 g.chr3:49323684C>G c.2047G>C c.(2047-2049)Gat>Cat p.D683H BLCA 3 49323707 49323707 + Nonsense_Mutation SNP G G C TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 g.chr3:49323707G>C c.2024C>G c.(2023-2025)tCa>tGa p.S675* BLCA 3 49331930 49331930 + Missense_Mutation SNP G G A TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 g.chr3:49331930G>A c.1793C>T c.(1792-1794)tCa>tTa p.S598L BLCA 3 49336023 49336023 + Nonsense_Mutation SNP C C A TCGA-SY-A9G5-01A-11D-A38G-08 TCGA-SY-A9G5-10A-01D-A38J-08 g.chr3:49336023C>A c.1558G>T c.(1558-1560)Gag>Tag p.E520* BLCA 3 49338025 49338025 + Missense_Mutation SNP C C T TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 g.chr3:49338025C>T c.1387G>A c.(1387-1389)Gaa>Aaa p.E463K BLCA 3 49339822 49339822 + Missense_Mutation SNP C C A TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 g.chr3:49339822C>A c.1282G>T c.(1282-1284)Gat>Tat p.D428Y BLCA 3 49339954 49339954 + Missense_Mutation SNP G G A TCGA-BT-A3PH-01A-11D-A21Z-08 TCGA-BT-A3PH-10A-01D-A21Z-08 g.chr3:49339954G>A c.1150C>T c.(1150-1152)Cct>Tct p.P384S BLCA 3 49362149 49362149 + Missense_Mutation SNP C C G TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 g.chr3:49362149C>G c.681G>C c.(679-681)caG>caC p.Q227H BLCA 3 49362440 49362441 + Frame_Shift_Ins INS - - A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 g.chr3:49362440_49362441insA c.519_520insT c.(517-522)ttcaacfs p.N174fs BLCA 3 49362462 49362462 + Missense_Mutation SNP C C A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 g.chr3:49362462C>A c.498G>T c.(496-498)gaG>gaT p.E166D BLCA 3 49363263 49363263 + Silent SNP G G A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 g.chr3:49363263G>A c.376C>T c.(376-378)Ctg>Ttg p.L126L BLCA 3 49365238 49365238 + Nonsense_Mutation SNP G G A TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 g.chr3:49365238G>A c.241C>T c.(241-243)Cag>Tag p.Q81* BLCA 3 49372916 49372916 + Missense_Mutation SNP G G A TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 g.chr3:49372916G>A c.215C>T c.(214-216)tCt>tTt p.S72F BRCA 3 49335319 49335319 + Missense_Mutation SNP G G A TCGA-AC-A2QI-01A-12D-A19Y-09 TCGA-AC-A2QI-10A-01D-A19Y-09 g.chr3:49335319G>A c.1675C>T c.(1675-1677)Cgg>Tgg p.R559W BRCA 3 49348063 49348063 + Missense_Mutation SNP G G C TCGA-AR-A0TX-01A-11D-A099-09 TCGA-AR-A0TX-10A-01D-A099-09 g.chr3:49348063G>C c.944C>G c.(943-945)tCc>tGc p.S315C BRCA 3 49348123 49348123 + Missense_Mutation SNP G G C TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 g.chr3:49348123G>C c.884C>G c.(883-885)tCt>tGt p.S295C BRCA 3 49349010 49349010 + Missense_Mutation SNP G G A TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr3:49349010G>A c.773C>T c.(772-774)tCt>tTt p.S258F BRCA 3 49362185 49362185 + Silent SNP A A G TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr3:49362185A>G c.645T>C c.(643-645)atT>atC p.I215I BRCA 3 49365238 49365238 + Missense_Mutation SNP G G C TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 g.chr3:49365238G>C c.241C>G c.(241-243)Cag>Gag p.Q81E BRCA 3 49377435 49377435 + Missense_Mutation SNP C C T TCGA-E9-A54X-01A-11D-A25Q-09 TCGA-E9-A54X-10A-01D-A25Q-09 g.chr3:49377435C>T c.23G>A c.(22-24)cGt>cAt p.R8H CESC 3 49321551 49321551 + Missense_Mutation SNP C C G TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 g.chr3:49321551C>G c.2409G>C c.(2407-2409)aaG>aaC p.K803N CESC 3 49349008 49349008 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 g.chr3:49349008G>C c.775C>G c.(775-777)Ctc>Gtc p.L259V CESC 3 49349008 49349008 + Missense_Mutation SNP G G C TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr3:49349008G>C c.775C>G c.(775-777)Ctc>Gtc p.L259V CESC 3 49372952 49372952 + Missense_Mutation SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 g.chr3:49372952C>T c.179G>A c.(178-180)gGt>gAt p.G60D COAD 3 49316277 49316277 + Silent SNP G G A TCGA-CM-6674-01A-11D-1835-10 TCGA-CM-6674-10A-01D-1835-10 g.chr3:49316277G>A c.2703C>T c.(2701-2703)aaC>aaT p.N901N COAD 3 49323729 49323729 + Missense_Mutation SNP C C T TCGA-AA-3555-01A-01W-0831-10 TCGA-AA-3555-10A-01W-0831-10 g.chr3:49323729C>T c.2002G>A c.(2002-2004)Gaa>Aaa p.E668K COAD 3 49331973 49331973 + Missense_Mutation SNP A A C TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr3:49331973A>C c.1750T>G c.(1750-1752)Ttc>Gtc p.F584V COAD 3 49335388 49335388 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr3:49335388C>T c.1606G>A c.(1606-1608)Gca>Aca p.A536T COAD 3 49336062 49336062 + Missense_Mutation SNP C C T TCGA-AA-A02J-01A-01W-A00E-09 TCGA-AA-A02J-10A-01W-A00E-09 g.chr3:49336062C>T c.1519G>A c.(1519-1521)Gtg>Atg p.V507M COAD 3 49337909 49337909 + Silent SNP T T C TCGA-AZ-6606-01A-11D-1835-10 TCGA-AZ-6606-11A-01D-1835-10 g.chr3:49337909T>C c.1503A>G c.(1501-1503)agA>agG p.R501R COAD 3 49337909 49337909 + Silent SNP T T C TCGA-D5-6539-01A-11D-1719-10 TCGA-D5-6539-10A-01D-1719-10 g.chr3:49337909T>C c.1503A>G c.(1501-1503)agA>agG p.R501R COAD 3 49337911 49337911 + Missense_Mutation SNP T T C TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr3:49337911T>C c.1501A>G c.(1501-1503)Aga>Gga p.R501G COAD 3 49337911 49337911 + Missense_Mutation SNP T T C TCGA-AZ-6608-01A-11D-1835-10 TCGA-AZ-6608-11A-01D-1835-10 g.chr3:49337911T>C c.1501A>G c.(1501-1503)Aga>Gga p.R501G COAD 3 49343174 49343174 + Missense_Mutation SNP C C T TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chr3:49343174C>T c.1102G>A c.(1102-1104)Gcc>Acc p.A368T COAD 3 49348097 49348097 + Missense_Mutation SNP G G A TCGA-D5-6533-01A-11D-1719-10 TCGA-D5-6533-10A-01D-1719-10 g.chr3:49348097G>A c.910C>T c.(910-912)Ctt>Ttt p.L304F COAD 3 49348117 49348117 + Missense_Mutation SNP A A G TCGA-CK-6751-01A-11D-1835-10 TCGA-CK-6751-10A-01D-1835-10 g.chr3:49348117A>G c.890T>C c.(889-891)aTa>aCa p.I297T COAD 3 49349075 49349075 + Silent SNP C C T TCGA-AA-3555-01A-01W-0831-10 TCGA-AA-3555-10A-01W-0831-10 g.chr3:49349075C>T c.708G>A c.(706-708)gcG>gcA p.A236A COAD 3 49349075 49349075 + Silent SNP C C T TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr3:49349075C>T c.708G>A c.(706-708)gcG>gcA p.A236A COAD 3 49362402 49362402 + Silent SNP T T C TCGA-CM-6164-01A-11D-1650-10 TCGA-CM-6164-10A-01D-1650-10 g.chr3:49362402T>C c.558A>G c.(556-558)aaA>aaG p.K186K COAD 3 49362402 49362402 + Silent SNP T T C TCGA-D5-6923-01A-11D-1924-10 TCGA-D5-6923-10A-01D-1924-10 g.chr3:49362402T>C c.558A>G c.(556-558)aaA>aaG p.K186K COADREAD 3 49316277 49316277 + Silent SNP G G A TCGA-CM-6674-01A-11D-1835-10 TCGA-CM-6674-10A-01D-1835-10 g.chr3:49316277G>A c.2703C>T c.(2701-2703)aaC>aaT p.N901N COADREAD 3 49323729 49323729 + Missense_Mutation SNP C C T TCGA-AA-3555-01A-01W-0831-10 TCGA-AA-3555-10A-01W-0831-10 g.chr3:49323729C>T c.2002G>A c.(2002-2004)Gaa>Aaa p.E668K COADREAD 3 49331973 49331973 + Missense_Mutation SNP A A C TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr3:49331973A>C c.1750T>G c.(1750-1752)Ttc>Gtc p.F584V COADREAD 3 49335388 49335388 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr3:49335388C>T c.1606G>A c.(1606-1608)Gca>Aca p.A536T COADREAD 3 49336062 49336062 + Missense_Mutation SNP C C T TCGA-AA-A02J-01A-01W-A00E-09 TCGA-AA-A02J-10A-01W-A00E-09 g.chr3:49336062C>T c.1519G>A c.(1519-1521)Gtg>Atg p.V507M COADREAD 3 49337909 49337909 + Silent SNP T T C TCGA-AZ-6606-01A-11D-1835-10 TCGA-AZ-6606-11A-01D-1835-10 g.chr3:49337909T>C c.1503A>G c.(1501-1503)agA>agG p.R501R COADREAD 3 49337909 49337909 + Silent SNP T T C TCGA-D5-6539-01A-11D-1719-10 TCGA-D5-6539-10A-01D-1719-10 g.chr3:49337909T>C c.1503A>G c.(1501-1503)agA>agG p.R501R COADREAD 3 49337909 49337909 + Silent SNP T T C TCGA-DY-A1DC-01A-31D-A152-10 TCGA-DY-A1DC-10A-01D-A152-10 g.chr3:49337909T>C c.1503A>G c.(1501-1503)agA>agG p.R501R COADREAD 3 49337909 49337909 + Silent SNP T T C TCGA-EI-6510-01A-11D-1733-10 TCGA-EI-6510-10A-01D-1733-10 g.chr3:49337909T>C c.1503A>G c.(1501-1503)agA>agG p.R501R COADREAD 3 49337911 49337911 + Missense_Mutation SNP T T C TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr3:49337911T>C c.1501A>G c.(1501-1503)Aga>Gga p.R501G COADREAD 3 49337911 49337911 + Missense_Mutation SNP T T C TCGA-AZ-6608-01A-11D-1835-10 TCGA-AZ-6608-11A-01D-1835-10 g.chr3:49337911T>C c.1501A>G c.(1501-1503)Aga>Gga p.R501G COADREAD 3 49343174 49343174 + Missense_Mutation SNP C C T TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chr3:49343174C>T c.1102G>A c.(1102-1104)Gcc>Acc p.A368T COADREAD 3 49348097 49348097 + Missense_Mutation SNP G G A TCGA-D5-6533-01A-11D-1719-10 TCGA-D5-6533-10A-01D-1719-10 g.chr3:49348097G>A c.910C>T c.(910-912)Ctt>Ttt p.L304F COADREAD 3 49348117 49348117 + Missense_Mutation SNP A A G TCGA-CK-6751-01A-11D-1835-10 TCGA-CK-6751-10A-01D-1835-10 g.chr3:49348117A>G c.890T>C c.(889-891)aTa>aCa p.I297T COADREAD 3 49349075 49349075 + Silent SNP C C T TCGA-AA-3555-01A-01W-0831-10 TCGA-AA-3555-10A-01W-0831-10 g.chr3:49349075C>T c.708G>A c.(706-708)gcG>gcA p.A236A COADREAD 3 49349075 49349075 + Silent SNP C C T TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr3:49349075C>T c.708G>A c.(706-708)gcG>gcA p.A236A COADREAD 3 49362402 49362402 + Silent SNP T T C TCGA-CM-6164-01A-11D-1650-10 TCGA-CM-6164-10A-01D-1650-10 g.chr3:49362402T>C c.558A>G c.(556-558)aaA>aaG p.K186K COADREAD 3 49362402 49362402 + Silent SNP T T C TCGA-D5-6923-01A-11D-1924-10 TCGA-D5-6923-10A-01D-1924-10 g.chr3:49362402T>C c.558A>G c.(556-558)aaA>aaG p.K186K DLBC 3 49321424 49321424 + Missense_Mutation SNP T T C TCGA-G8-6914-01A-11D-2210-10 TCGA-G8-6914-14A-01D-2210-10 g.chr3:49321424T>C c.2536A>G c.(2536-2538)Atc>Gtc p.I846V DLBC 3 49362425 49362425 + Missense_Mutation SNP G G C TCGA-FA-A6HO-01A-11D-A31X-10 TCGA-FA-A6HO-10A-01D-A31X-10 g.chr3:49362425G>C c.535C>G c.(535-537)Cgt>Ggt p.R179G ESCA 3 49331951 49331951 + Missense_Mutation SNP G G T TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 g.chr3:49331951G>T c.1772C>A c.(1771-1773)cCa>cAa p.P591Q GBMLGG 3 49323550 49323550 + Silent SNP T T A TCGA-QH-A65R-01A-21D-A31L-08 TCGA-QH-A65R-10A-01D-A31J-08 g.chr3:49323550T>A c.2181A>T c.(2179-2181)ggA>ggT p.G727G GBMLGG 3 49335318 49335318 + Missense_Mutation SNP C C T TCGA-TM-A84R-01A-21D-A36O-08 TCGA-TM-A84R-10A-01D-A367-08 g.chr3:49335318C>T c.1676G>A c.(1675-1677)cGg>cAg p.R559Q GBMLGG 3 49362451 49362451 + Missense_Mutation SNP C C T TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 g.chr3:49362451C>T c.509G>A c.(508-510)cGg>cAg p.R170Q GBMLGG 3 49365164 49365166 + In_Frame_Del DEL TAG TAG - TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 g.chr3:49365164_49365166delTAG c.313_315delCTA c.(313-315)ctadel p.L105del GBMLGG 3 49365228 49365228 + Missense_Mutation SNP T T G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:49365228T>G c.251A>C c.(250-252)aAa>aCa p.K84T HNSC 3 49316263 49316263 + Missense_Mutation SNP G G C TCGA-CQ-A4CD-01A-21D-A25D-08 TCGA-CQ-A4CD-10A-01D-A25E-08 g.chr3:49316263G>C c.2717C>G c.(2716-2718)tCt>tGt p.S906C HNSC 3 49321937 49321937 + Silent SNP G G C TCGA-CV-A6K2-01A-11D-A31L-08 TCGA-CV-A6K2-10A-01D-A31J-08 g.chr3:49321937G>C c.2352C>G c.(2350-2352)ctC>ctG p.L784L HNSC 3 49329942 49329942 + Splice_Site SNP C C G TCGA-CV-6941-01A-11D-1912-08 TCGA-CV-6941-10A-01D-1912-08 g.chr3:49329942C>G c.e15+1 HNSC 3 49336023 49336023 + Missense_Mutation SNP C C T TCGA-QK-A6VB-01A-12D-A34J-08 TCGA-QK-A6VB-10B-01D-A34M-08 g.chr3:49336023C>T c.1558G>A c.(1558-1560)Gag>Aag p.E520K HNSC 3 49339923 49339923 + Missense_Mutation SNP G G C TCGA-UF-A7JT-01A-11D-A34J-08 TCGA-UF-A7JT-10A-01D-A34M-08 g.chr3:49339923G>C c.1181C>G c.(1180-1182)tCt>tGt p.S394C HNSC 3 49343283 49343283 + Silent SNP G G A TCGA-QK-A6V9-01A-11D-A34J-08 TCGA-QK-A6V9-10B-01D-A34M-08 g.chr3:49343283G>A c.993C>T c.(991-993)ctC>ctT p.L331L HNSC 3 49362439 49362439 + Missense_Mutation SNP T T G TCGA-CV-7438-01A-21D-2129-08 TCGA-CV-7438-10A-01D-2129-08 g.chr3:49362439T>G c.521A>C c.(520-522)aAc>aCc p.N174T HNSC 3 49377429 49377429 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 g.chr3:49377429C>G c.29G>C c.(28-30)cGa>cCa p.R10P KIPAN 3 49315762 49315762 + Frame_Shift_Del DEL A A - TCGA-UZ-A9PS-01A-11D-A42J-10 TCGA-UZ-A9PS-10A-01D-A42M-10 g.chr3:49315762delA c.2856delT c.(2854-2856)tttfs p.F952fs KIPAN 3 49321434 49321434 + Silent SNP T T A TCGA-BP-4756-01A-01D-1366-10 TCGA-BP-4756-11A-01D-1366-10 g.chr3:49321434T>A c.2526A>T c.(2524-2526)gtA>gtT p.V842V KIPAN 3 49337921 49337921 + Silent SNP G G A TCGA-EU-5906-01A-11D-1669-08 TCGA-EU-5906-10A-01D-1669-08 g.chr3:49337921G>A c.1491C>T c.(1489-1491)gaC>gaT p.D497D KIPAN 3 49338037 49338037 + Missense_Mutation SNP A A C TCGA-5P-A9K0-01A-11D-A42J-10 TCGA-5P-A9K0-10A-01D-A42M-10 g.chr3:49338037A>C c.1375T>G c.(1375-1377)Ttg>Gtg p.L459V KIPAN 3 49362339 49362339 + Silent SNP T T C TCGA-EV-5902-01A-11D-1589-08 TCGA-EV-5902-10A-01D-1589-08 g.chr3:49362339T>C c.621A>G c.(619-621)ctA>ctG p.L207L KIPAN 3 49373006 49373006 + Missense_Mutation SNP A A C TCGA-BP-4162-01A-02D-1386-10 TCGA-BP-4162-11A-01D-1251-10 g.chr3:49373006A>C c.125T>G c.(124-126)tTc>tGc p.F42C KIRC 3 49321434 49321434 + Silent SNP T T A TCGA-BP-4756-01A-01D-1366-10 TCGA-BP-4756-11A-01D-1366-10 g.chr3:49321434T>A c.2526A>T c.(2524-2526)gtA>gtT p.V842V KIRC 3 49337921 49337921 + Silent SNP G G A TCGA-EU-5906-01A-11D-1669-08 TCGA-EU-5906-10A-01D-1669-08 g.chr3:49337921G>A c.1491C>T c.(1489-1491)gaC>gaT p.D497D KIRC 3 49373006 49373006 + Missense_Mutation SNP A A C TCGA-BP-4162-01A-02D-1386-10 TCGA-BP-4162-11A-01D-1251-10 g.chr3:49373006A>C c.125T>G c.(124-126)tTc>tGc p.F42C KIRP 3 49315762 49315762 + Frame_Shift_Del DEL A A - TCGA-UZ-A9PS-01A-11D-A42J-10 TCGA-UZ-A9PS-10A-01D-A42M-10 g.chr3:49315762delA c.2856delT c.(2854-2856)tttfs p.F952fs KIRP 3 49338037 49338037 + Missense_Mutation SNP A A C TCGA-5P-A9K0-01A-11D-A42J-10 TCGA-5P-A9K0-10A-01D-A42M-10 g.chr3:49338037A>C c.1375T>G c.(1375-1377)Ttg>Gtg p.L459V KIRP 3 49362339 49362339 + Silent SNP T T C TCGA-EV-5902-01A-11D-1589-08 TCGA-EV-5902-10A-01D-1589-08 g.chr3:49362339T>C c.621A>G c.(619-621)ctA>ctG p.L207L LGG 3 49323550 49323550 + Silent SNP T T A TCGA-QH-A65R-01A-21D-A31L-08 TCGA-QH-A65R-10A-01D-A31J-08 g.chr3:49323550T>A c.2181A>T c.(2179-2181)ggA>ggT p.G727G LGG 3 49335318 49335318 + Missense_Mutation SNP C C T TCGA-TM-A84R-01A-21D-A36O-08 TCGA-TM-A84R-10A-01D-A367-08 g.chr3:49335318C>T c.1676G>A c.(1675-1677)cGg>cAg p.R559Q LGG 3 49362451 49362451 + Missense_Mutation SNP C C T TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 g.chr3:49362451C>T c.509G>A c.(508-510)cGg>cAg p.R170Q LGG 3 49365164 49365166 + In_Frame_Del DEL TAG TAG - TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 g.chr3:49365164_49365166delTAG c.313_315delCTA c.(313-315)ctadel p.L105del LGG 3 49365228 49365228 + Missense_Mutation SNP T T G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:49365228T>G c.251A>C c.(250-252)aAa>aCa p.K84T LIHC 3 49316327 49316327 + Missense_Mutation SNP A A G TCGA-DD-A4NV-01A-11D-A30V-10 TCGA-DD-A4NV-10A-01D-A30V-10 g.chr3:49316327A>G c.2653T>C c.(2653-2655)Tat>Cat p.Y885H LIHC 3 49321560 49321560 + Silent SNP G G A TCGA-HP-A5MZ-01A-21D-A27I-10 TCGA-HP-A5MZ-10A-01D-A27I-10 g.chr3:49321560G>A c.2400C>T c.(2398-2400)ccC>ccT p.P800P LIHC 3 49362451 49362451 + Missense_Mutation SNP C C A TCGA-BD-A3EP-01A-11D-A22F-10 TCGA-BD-A3EP-11A-12D-A22F-10 g.chr3:49362451C>A c.509G>T c.(508-510)cGg>cTg p.R170L LIHC 3 49365180 49365180 + Missense_Mutation SNP G G C TCGA-G3-A25Y-01A-11D-A16V-10 TCGA-G3-A25Y-10A-01D-A16V-10 g.chr3:49365180G>C c.299C>G c.(298-300)gCg>gGg p.A100G LUAD 3 49321528 49321528 + Frame_Shift_Del DEL T T - TCGA-35-5375-01A-01D-1625-08 TCGA-35-5375-10A-01D-1625-08 g.chr3:49321528delT c.2432delA c.(2431-2433)aagfs p.K811fs LUAD 3 49322306 49322306 + Silent SNP A A G TCGA-86-8673-01A-11D-2393-08 TCGA-86-8673-10A-01D-2393-08 g.chr3:49322306A>G c.2247T>C c.(2245-2247)ctT>ctC p.L749L LUAD 3 49323555 49323555 + Missense_Mutation SNP C C G TCGA-17-Z045-01A-01W-0746-08 TCGA-17-Z045-11A-01W-0747-08 g.chr3:49323555C>G c.2176G>C c.(2176-2178)Gat>Cat p.D726H LUAD 3 49329950 49329950 + Missense_Mutation SNP G G T TCGA-38-4629-01A-02D-1265-08 TCGA-38-4629-11A-01D-1265-08 g.chr3:49329950G>T c.1965C>A c.(1963-1965)agC>agA p.S655R LUAD 3 49335338 49335338 + Silent SNP A A T TCGA-91-6835-01A-11D-1855-08 TCGA-91-6835-11A-01D-1855-08 g.chr3:49335338A>T c.1656T>A c.(1654-1656)ggT>ggA p.G552G LUAD 3 49337975 49337975 + Silent SNP C C T TCGA-17-Z023-01A-01W-0746-08 TCGA-17-Z023-11A-01W-0746-08 g.chr3:49337975C>T c.1437G>A c.(1435-1437)ctG>ctA p.L479L LUAD 3 49338025 49338025 + Nonsense_Mutation SNP C C A TCGA-86-8056-01A-11D-2238-08 TCGA-86-8056-10A-01D-2238-08 g.chr3:49338025C>A c.1387G>T c.(1387-1389)Gaa>Taa p.E463* LUAD 3 49338076 49338076 + Missense_Mutation SNP C C A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 g.chr3:49338076C>A c.1336G>T c.(1336-1338)Gtg>Ttg p.V446L LUAD 3 49343230 49343230 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 g.chr3:49343230C>A c.1046G>T c.(1045-1047)gGg>gTg p.G349V LUAD 3 49362161 49362161 + Silent SNP T T G TCGA-86-8673-01A-11D-2393-08 TCGA-86-8673-10A-01D-2393-08 g.chr3:49362161T>G c.669A>C c.(667-669)acA>acC p.T223T LUAD 3 49362339 49362339 + Silent SNP T T C TCGA-86-8674-01A-21D-2393-08 TCGA-86-8674-10A-01D-2393-08 g.chr3:49362339T>C c.621A>G c.(619-621)ctA>ctG p.L207L LUSC 3 49318254 49318254 + Missense_Mutation SNP C C T TCGA-33-4538-01A-01D-1267-08 TCGA-33-4538-11A-01D-1267-08 g.chr3:49318254C>T c.2567G>A c.(2566-2568)tGt>tAt p.C856Y OV 3 49337910 49337910 + Missense_Mutation SNP C C G TCGA-13-0889-01A-01W-0419-10 TCGA-13-0889-10A-01W-0419-10 g.chr3:49337910C>G c.1502G>C c.(1501-1503)aGa>aCa p.R501T OV 3 49362402 49362402 + Missense_Mutation SNP T T G TCGA-13-1488-01A-01W-0549-09 TCGA-13-1488-10A-01W-0549-09 g.chr3:49362402T>G c.558A>C c.(556-558)aaA>aaC p.K186N OV 3 49377436 49377436 + Missense_Mutation SNP G G A TCGA-36-2543-01A-01D-1526-09 TCGA-36-2543-10A-01D-1526-09 g.chr3:49377436G>A c.22C>T c.(22-24)Cgt>Tgt p.R8C PAAD 3 49321969 49321971 + In_Frame_Del DEL TCT TCT - TCGA-3A-A9IL-01A-11D-A38G-08 TCGA-3A-A9IL-10A-01D-A38J-08 g.chr3:49321969_49321971delTCT c.2318_2320delAGA c.(2317-2322)aagacc>acc p.K773del PAAD 3 49321969 49321971 + In_Frame_Del DEL TCT TCT - TCGA-FB-AAQ3-01A-11D-A40W-08 TCGA-FB-AAQ3-11A-11D-A40W-08 g.chr3:49321969_49321971delTCT c.2318_2320delAGA c.(2317-2322)aagacc>acc p.K773del PAAD 3 49321969 49321971 + In_Frame_Del DEL TCT TCT - TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 g.chr3:49321969_49321971delTCT c.2318_2320delAGA c.(2317-2322)aagacc>acc p.K773del PAAD 3 49321969 49321971 + In_Frame_Del DEL TCT TCT - TCGA-HZ-A9TJ-01A-11D-A40W-08 TCGA-HZ-A9TJ-10A-01D-A40W-08 g.chr3:49321969_49321971delTCT c.2318_2320delAGA c.(2317-2322)aagacc>acc p.K773del PAAD 3 49321969 49321971 + In_Frame_Del DEL TCT TCT - TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 g.chr3:49321969_49321971delTCT c.2318_2320delAGA c.(2317-2322)aagacc>acc p.K773del PAAD 3 49321969 49321971 + In_Frame_Del DEL TCT TCT - TCGA-YY-A8LH-01A-11D-A36O-08 TCGA-YY-A8LH-10A-01D-A367-08 g.chr3:49321969_49321971delTCT c.2318_2320delAGA c.(2317-2322)aagacc>acc p.K773del PAAD 3 49332010 49332010 + Silent SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:49332010G>A c.1713C>T c.(1711-1713)tcC>tcT p.S571S PAAD 3 49338072 49338072 + Missense_Mutation SNP A A G TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:49338072A>G c.1340T>C c.(1339-1341)aTt>aCt p.I447T PAAD 3 49348051 49348051 + Splice_Site SNP A A G TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:49348051A>G c.e8+1 READ 3 49337909 49337909 + Silent SNP T T C TCGA-DY-A1DC-01A-31D-A152-10 TCGA-DY-A1DC-10A-01D-A152-10 g.chr3:49337909T>C c.1503A>G c.(1501-1503)agA>agG p.R501R READ 3 49337909 49337909 + Silent SNP T T C TCGA-EI-6510-01A-11D-1733-10 TCGA-EI-6510-10A-01D-1733-10 g.chr3:49337909T>C c.1503A>G c.(1501-1503)agA>agG p.R501R SARC 3 49363168 49363168 + Missense_Mutation SNP G G T TCGA-JV-A5VF-01A-11D-A29N-09 TCGA-JV-A5VF-10A-01D-A29N-09 g.chr3:49363168G>T c.471C>A c.(469-471)agC>agA p.S157R SARC 3 49373013 49373013 + Silent SNP G G T TCGA-DX-A8BZ-01A-11D-A37C-09 TCGA-DX-A8BZ-10A-01D-A37F-09 g.chr3:49373013G>T c.118C>A c.(118-120)Cgg>Agg p.R40R SKCM 3 49315767 49315767 + Missense_Mutation SNP C C G TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr3:49315767C>G c.2851G>C c.(2851-2853)Ggc>Cgc p.G951R SKCM 3 49321428 49321428 + Silent SNP G G A TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 g.chr3:49321428G>A c.2532C>T c.(2530-2532)ttC>ttT p.F844F SKCM 3 49321500 49321500 + Silent SNP G G A TCGA-D3-A3MR-06A-11D-A21A-08 TCGA-D3-A3MR-10A-01D-A21A-08 g.chr3:49321500G>A c.2460C>T c.(2458-2460)atC>atT p.I820I SKCM 3 49323590 49323590 + Missense_Mutation SNP G G A TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 g.chr3:49323590G>A c.2141C>T c.(2140-2142)tCc>tTc p.S714F SKCM 3 49323652 49323652 + Silent SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 g.chr3:49323652G>A c.2079C>T c.(2077-2079)acC>acT p.T693T SKCM 3 49323748 49323748 + Silent SNP C C T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr3:49323748C>T c.1983G>A c.(1981-1983)gaG>gaA p.E661E SKCM 3 49339873 49339873 + Missense_Mutation SNP G G A TCGA-DA-A3F5-06A-11D-A20D-08 TCGA-DA-A3F5-10A-01D-A20D-08 g.chr3:49339873G>A c.1231C>T c.(1231-1233)Cgg>Tgg p.R411W SKCM 3 49339953 49339953 + Missense_Mutation SNP G G A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr3:49339953G>A c.1151C>T c.(1150-1152)cCt>cTt p.P384L SKCM 3 49348150 49348150 + Missense_Mutation SNP G G A TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 g.chr3:49348150G>A c.857C>T c.(856-858)tCg>tTg p.S286L SKCM 3 49348974 49348974 + Missense_Mutation SNP C C G TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr3:49348974C>G c.809G>C c.(808-810)gGg>gCg p.G270A SKCM 3 49362169 49362169 + Missense_Mutation SNP C C T TCGA-EE-A3J5-06A-11D-A20D-08 TCGA-EE-A3J5-10A-01D-A20D-08 g.chr3:49362169C>T c.661G>A c.(661-663)Gat>Aat p.D221N SKCM 3 49362330 49362330 + Silent SNP A A C TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 g.chr3:49362330A>C c.630T>G c.(628-630)ggT>ggG p.G210G

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation AML-US 3 49339828 49339828 single base substitution G A downstream_gene_variant AML-US 3 49339828 49339828 single base substitution G A exon_variant AML-US 3 49339828 49339828 single base substitution G A intron_variant AML-US 3 49339828 49339828 single base substitution G A missense_variant R379W 1135C>T AML-US 3 49339828 49339828 single base substitution G A missense_variant R426W 1276C>T BLCA-CN 3 49321439 49321439 single base substitution C A downstream_gene_variant BLCA-CN 3 49321439 49321439 single base substitution C A exon_variant BLCA-CN 3 49321439 49321439 single base substitution C A missense_variant V579F 1735G>T BLCA-CN 3 49321439 49321439 single base substitution C A missense_variant V794F 2380G>T BLCA-CN 3 49321439 49321439 single base substitution C A missense_variant V841F 2521G>T BLCA-CN 3 49321439 49321439 single base substitution C A upstream_gene_variant BLCA-CN 3 49321973 49321973 single base substitution C T exon_variant BLCA-CN 3 49321973 49321973 single base substitution C T synonymous_variant K510K 1530G>A BLCA-CN 3 49321973 49321973 single base substitution C T synonymous_variant K725K 2175G>A BLCA-CN 3 49321973 49321973 single base substitution C T synonymous_variant K772K 2316G>A BLCA-CN 3 49363245 49363245 single base substitution T C exon_variant BLCA-CN 3 49363245 49363245 single base substitution T C intron_variant BLCA-CN 3 49363245 49363245 single base substitution T C missense_variant K132E 394A>G BLCA-US 3 49314142 49314142 single base substitution G A downstream_gene_variant BLCA-US 3 49314209 49314209 single base substitution C T downstream_gene_variant BLCA-US 3 49331930 49331930 single base substitution G A downstream_gene_variant BLCA-US 3 49331930 49331930 single base substitution G A exon_variant BLCA-US 3 49331930 49331930 single base substitution G A missense_variant S336L 1007C>T BLCA-US 3 49331930 49331930 single base substitution G A missense_variant S551L 1652C>T BLCA-US 3 49331930 49331930 single base substitution G A missense_variant S598L 1793C>T BLCA-US 3 49331930 49331930 single base substitution G A upstream_gene_variant BLCA-US 3 49339954 49339954 single base substitution G A downstream_gene_variant BLCA-US 3 49339954 49339954 single base substitution G A exon_variant BLCA-US 3 49339954 49339954 single base substitution G A missense_variant P140S 418C>T BLCA-US 3 49339954 49339954 single base substitution G A missense_variant P337S 1009C>T BLCA-US 3 49339954 49339954 single base substitution G A missense_variant P384S 1150C>T BLCA-US 3 49362149 49362149 single base substitution C G exon_variant BLCA-US 3 49362149 49362149 single base substitution C G intron_variant BLCA-US 3 49362149 49362149 single base substitution C G missense_variant Q227H 681G>C BLCA-US 3 49362440 49362440 insertion of <=200bp - A exon_variant BLCA-US 3 49362440 49362440 insertion of <=200bp - A frameshift_variant N174I? BLCA-US 3 49362440 49362440 insertion of <=200bp - A intron_variant BLCA-US 3 49362462 49362462 single base substitution C A exon_variant BLCA-US 3 49362462 49362462 single base substitution C A intron_variant BLCA-US 3 49362462 49362462 single base substitution C A missense_variant E166D 498G>T BLCA-US 3 49363263 49363263 single base substitution G A exon_variant BLCA-US 3 49363263 49363263 single base substitution G A intron_variant BLCA-US 3 49363263 49363263 single base substitution G A synonymous_variant L126L 376C>T BLCA-US 3 49372916 49372916 single base substitution G A exon_variant BLCA-US 3 49372916 49372916 single base substitution G A intron_variant BLCA-US 3 49372916 49372916 single base substitution G A missense_variant S72F 215C>T BRCA-EU 3 49311734 49311734 single base substitution C G downstream_gene_variant BRCA-EU 3 49311891 49311891 single base substitution G A downstream_gene_variant BRCA-EU 3 49314453 49314453 single base substitution G C downstream_gene_variant BRCA-EU 3 49314974 49314974 single base substitution G A downstream_gene_variant BRCA-EU 3 49315183 49315183 single base substitution G T downstream_gene_variant BRCA-EU 3 49315392 49315392 single base substitution G A 3_prime_UTR_variant BRCA-EU 3 49315392 49315392 single base substitution G A downstream_gene_variant BRCA-EU 3 49315589 49315589 deletion of <=200bp G - 3_prime_UTR_variant BRCA-EU 3 49315589 49315589 deletion of <=200bp G - downstream_gene_variant BRCA-EU 3 49315589 49315589 deletion of <=200bp G - exon_variant BRCA-EU 3 49317762 49317762 single base substitution A G downstream_gene_variant BRCA-EU 3 49317762 49317762 single base substitution A G intron_variant BRCA-EU 3 49317762 49317762 single base substitution A G upstream_gene_variant BRCA-EU 3 49318478 49318478 single base substitution G A downstream_gene_variant BRCA-EU 3 49318478 49318478 single base substitution G A intron_variant BRCA-EU 3 49318478 49318478 single base substitution G A upstream_gene_variant BRCA-EU 3 49319443 49319443 insertion of <=200bp - A downstream_gene_variant BRCA-EU 3 49319443 49319443 insertion of <=200bp - A intron_variant BRCA-EU 3 49319443 49319443 insertion of <=200bp - A upstream_gene_variant BRCA-EU 3 49319464 49319464 insertion of <=200bp - A downstream_gene_variant BRCA-EU 3 49319464 49319464 insertion of <=200bp - A intron_variant BRCA-EU 3 49319464 49319464 insertion of <=200bp - A upstream_gene_variant BRCA-EU 3 49322662 49322662 deletion of <=200bp A - intron_variant BRCA-EU 3 49326613 49326613 single base substitution A G intron_variant BRCA-EU 3 49327548 49327548 single base substitution C A intron_variant BRCA-EU 3 49327862 49327862 single base substitution T A intron_variant BRCA-EU 3 49328806 49328806 single base substitution A G intron_variant BRCA-EU 3 49330055 49330055 deletion of <=200bp A - intron_variant BRCA-EU 3 49330525 49330525 single base substitution A C downstream_gene_variant BRCA-EU 3 49330525 49330525 single base substitution A C intron_variant BRCA-EU 3 49331562 49331562 single base substitution G T downstream_gene_variant BRCA-EU 3 49331562 49331562 single base substitution G T intron_variant BRCA-EU 3 49331562 49331562 single base substitution G T upstream_gene_variant BRCA-EU 3 49331986 49331986 single base substitution C A downstream_gene_variant BRCA-EU 3 49331986 49331986 single base substitution C A exon_variant BRCA-EU 3 49331986 49331986 single base substitution C A synonymous_variant T317T 951G>T BRCA-EU 3 49331986 49331986 single base substitution C A synonymous_variant T532T 1596G>T BRCA-EU 3 49331986 49331986 single base substitution C A synonymous_variant T579T 1737G>T BRCA-EU 3 49331986 49331986 single base substitution C A upstream_gene_variant BRCA-EU 3 49333316 49333316 single base substitution C G downstream_gene_variant BRCA-EU 3 49333316 49333316 single base substitution C G intron_variant BRCA-EU 3 49333316 49333316 single base substitution C G upstream_gene_variant BRCA-EU 3 49334906 49334906 single base substitution A G downstream_gene_variant BRCA-EU 3 49334906 49334906 single base substitution A G intron_variant BRCA-EU 3 49334906 49334906 single base substitution A G upstream_gene_variant BRCA-EU 3 49337022 49337022 single base substitution T C downstream_gene_variant BRCA-EU 3 49337022 49337022 single base substitution T C intron_variant BRCA-EU 3 49337882 49337882 deletion of <=200bp G - downstream_gene_variant BRCA-EU 3 49337882 49337882 deletion of <=200bp G - intron_variant BRCA-EU 3 49338886 49338886 single base substitution C T downstream_gene_variant BRCA-EU 3 49338886 49338886 single base substitution C T intron_variant BRCA-EU 3 49338918 49338918 single base substitution C G downstream_gene_variant BRCA-EU 3 49338918 49338918 single base substitution C G intron_variant BRCA-EU 3 49339737 49339737 single base substitution G T downstream_gene_variant BRCA-EU 3 49339737 49339737 single base substitution G T intron_variant BRCA-EU 3 49343050 49343050 deletion of <=200bp A - downstream_gene_variant BRCA-EU 3 49343050 49343050 deletion of <=200bp A - intron_variant BRCA-EU 3 49343050 49343050 single base substitution A T downstream_gene_variant BRCA-EU 3 49343050 49343050 single base substitution A T intron_variant BRCA-EU 3 49343634 49343637 deletion of <=200bp TTTT - intron_variant BRCA-EU 3 49344888 49344888 single base substitution T A downstream_gene_variant BRCA-EU 3 49344888 49344888 single base substitution T A intron_variant BRCA-EU 3 49345764 49345764 insertion of <=200bp - T downstream_gene_variant BRCA-EU 3 49345764 49345764 insertion of <=200bp - T intron_variant BRCA-EU 3 49348516 49348516 single base substitution G A downstream_gene_variant BRCA-EU 3 49348516 49348516 single base substitution G A intron_variant BRCA-EU 3 49349221 49349221 single base substitution A G 3_prime_UTR_variant BRCA-EU 3 49349221 49349221 single base substitution A G downstream_gene_variant BRCA-EU 3 49349221 49349221 single base substitution A G exon_variant BRCA-EU 3 49349221 49349221 single base substitution A G intron_variant BRCA-EU 3 49349221 49349221 single base substitution A G upstream_gene_variant BRCA-EU 3 49349557 49349557 single base substitution G C 3_prime_UTR_variant BRCA-EU 3 49349557 49349557 single base substitution G C downstream_gene_variant BRCA-EU 3 49349557 49349557 single base substitution G C exon_variant BRCA-EU 3 49349557 49349557 single base substitution G C intron_variant BRCA-EU 3 49349557 49349557 single base substitution G C upstream_gene_variant BRCA-EU 3 49349566 49349566 single base substitution G A 3_prime_UTR_variant BRCA-EU 3 49349566 49349566 single base substitution G A downstream_gene_variant BRCA-EU 3 49349566 49349566 single base substitution G A exon_variant BRCA-EU 3 49349566 49349566 single base substitution G A intron_variant BRCA-EU 3 49349566 49349566 single base substitution G A upstream_gene_variant BRCA-EU 3 49349923 49349923 single base substitution A T downstream_gene_variant BRCA-EU 3 49349923 49349923 single base substitution A T exon_variant BRCA-EU 3 49349923 49349923 single base substitution A T intron_variant BRCA-EU 3 49349923 49349923 single base substitution A T synonymous_variant A273A 819T>A BRCA-EU 3 49349923 49349923 single base substitution A T upstream_gene_variant BRCA-EU 3 49350063 49350063 single base substitution G C downstream_gene_variant BRCA-EU 3 49350063 49350063 single base substitution G C exon_variant BRCA-EU 3 49350063 49350063 single base substitution G C intron_variant BRCA-EU 3 49350063 49350063 single base substitution G C upstream_gene_variant BRCA-EU 3 49352704 49352704 single base substitution C A downstream_gene_variant BRCA-EU 3 49352704 49352704 single base substitution C A intron_variant BRCA-EU 3 49352704 49352704 single base substitution C A upstream_gene_variant BRCA-EU 3 49352902 49352902 single base substitution T C downstream_gene_variant BRCA-EU 3 49352902 49352902 single base substitution T C intron_variant BRCA-EU 3 49352902 49352902 single base substitution T C upstream_gene_variant BRCA-EU 3 49353610 49353610 single base substitution G A downstream_gene_variant BRCA-EU 3 49353610 49353610 single base substitution G A intron_variant BRCA-EU 3 49353610 49353610 single base substitution G A upstream_gene_variant BRCA-EU 3 49358174 49358174 deletion of <=200bp T - downstream_gene_variant BRCA-EU 3 49358174 49358174 deletion of <=200bp T - intron_variant BRCA-EU 3 49358174 49358174 deletion of <=200bp T - upstream_gene_variant BRCA-EU 3 49361652 49361652 single base substitution G A downstream_gene_variant BRCA-EU 3 49361652 49361652 single base substitution G A intron_variant BRCA-EU 3 49362820 49362820 single base substitution G C intron_variant BRCA-EU 3 49363761 49363761 single base substitution T A intron_variant BRCA-EU 3 49364736 49364736 single base substitution C T intron_variant BRCA-EU 3 49365099 49365099 single base substitution G T intron_variant BRCA-EU 3 49372174 49372174 single base substitution T G intron_variant BRCA-EU 3 49372456 49372456 single base substitution C T intron_variant BRCA-EU 3 49372467 49372467 single base substitution C T intron_variant BRCA-EU 3 49373186 49373186 single base substitution A T intron_variant BRCA-EU 3 49373187 49373187 single base substitution T G intron_variant BRCA-EU 3 49373311 49373311 single base substitution C T intron_variant BRCA-EU 3 49373439 49373439 single base substitution G C intron_variant BRCA-EU 3 49376352 49376352 single base substitution G A intron_variant BRCA-EU 3 49376894 49376894 single base substitution G A intron_variant BRCA-EU 3 49380044 49380044 single base substitution A C upstream_gene_variant BRCA-EU 3 49380556 49380556 single base substitution G A upstream_gene_variant BRCA-EU 3 49381504 49381504 single base substitution G C upstream_gene_variant BRCA-EU 3 49382547 49382547 single base substitution G A upstream_gene_variant BRCA-FR 3 49314041 49314041 single base substitution C T downstream_gene_variant BRCA-FR 3 49315183 49315183 single base substitution G T downstream_gene_variant BRCA-FR 3 49326613 49326613 single base substitution A G intron_variant BRCA-FR 3 49340297 49340297 single base substitution C A downstream_gene_variant BRCA-FR 3 49340297 49340297 single base substitution C A intron_variant BRCA-FR 3 49350063 49350063 single base substitution G C downstream_gene_variant BRCA-FR 3 49350063 49350063 single base substitution G C exon_variant BRCA-FR 3 49350063 49350063 single base substitution G C intron_variant BRCA-FR 3 49350063 49350063 single base substitution G C upstream_gene_variant BRCA-FR 3 49368779 49368779 single base substitution T G intron_variant BRCA-FR 3 49373439 49373439 single base substitution G C intron_variant BRCA-FR 3 49382547 49382547 single base substitution G A upstream_gene_variant BRCA-UK 3 49314142 49314142 single base substitution G A downstream_gene_variant BRCA-UK 3 49328585 49328585 single base substitution G C intron_variant BRCA-UK 3 49335358 49335358 single base substitution T C downstream_gene_variant BRCA-UK 3 49335358 49335358 single base substitution T C exon_variant BRCA-UK 3 49335358 49335358 single base substitution T C missense_variant I284V 850A>G BRCA-UK 3 49335358 49335358 single base substitution T C missense_variant I499V 1495A>G BRCA-UK 3 49335358 49335358 single base substitution T C missense_variant I546V 1636A>G BRCA-UK 3 49335358 49335358 single base substitution T C upstream_gene_variant BRCA-US 3 49311552 49311552 single base substitution C T downstream_gene_variant BRCA-US 3 49313959 49313959 single base substitution C T downstream_gene_variant BRCA-US 3 49335319 49335319 single base substitution G A downstream_gene_variant BRCA-US 3 49335319 49335319 single base substitution G A exon_variant BRCA-US 3 49335319 49335319 single base substitution G A missense_variant R297W 889C>T BRCA-US 3 49335319 49335319 single base substitution G A missense_variant R512W 1534C>T BRCA-US 3 49335319 49335319 single base substitution G A missense_variant R559W 1675C>T BRCA-US 3 49335319 49335319 single base substitution G A upstream_gene_variant BRCA-US 3 49348063 49348063 single base substitution G C downstream_gene_variant BRCA-US 3 49348063 49348063 single base substitution G C exon_variant BRCA-US 3 49348063 49348063 single base substitution G C intron_variant BRCA-US 3 49348063 49348063 single base substitution G C missense_variant S268C 803C>G BRCA-US 3 49348063 49348063 single base substitution G C missense_variant S315C 944C>G BRCA-US 3 49348063 49348063 single base substitution G C missense_variant S71C 212C>G BRCA-US 3 49348123 49348123 single base substitution G C downstream_gene_variant BRCA-US 3 49348123 49348123 single base substitution G C exon_variant BRCA-US 3 49348123 49348123 single base substitution G C intron_variant BRCA-US 3 49348123 49348123 single base substitution G C missense_variant S248C 743C>G BRCA-US 3 49348123 49348123 single base substitution G C missense_variant S295C 884C>G BRCA-US 3 49348123 49348123 single base substitution G C missense_variant S51C 152C>G BRCA-US 3 49349010 49349010 single base substitution G A downstream_gene_variant BRCA-US 3 49349010 49349010 single base substitution G A exon_variant BRCA-US 3 49349010 49349010 single base substitution G A intron_variant BRCA-US 3 49349010 49349010 single base substitution G A missense_variant S14F 41C>T BRCA-US 3 49349010 49349010 single base substitution G A missense_variant S258F 773C>T BRCA-US 3 49362185 49362185 single base substitution A G exon_variant BRCA-US 3 49362185 49362185 single base substitution A G intron_variant BRCA-US 3 49362185 49362185 single base substitution A G synonymous_variant I215I 645T>C BRCA-US 3 49365238 49365238 single base substitution G C exon_variant BRCA-US 3 49365238 49365238 single base substitution G C missense_variant Q81E 241C>G BRCA-US 3 49377435 49377435 single base substitution C T exon_variant BRCA-US 3 49377435 49377435 single base substitution C T intron_variant BRCA-US 3 49377435 49377435 single base substitution C T missense_variant R8H 23G>A BTCA-JP 3 49315854 49315854 single base substitution G A 3_prime_UTR_variant BTCA-JP 3 49315854 49315854 single base substitution G A exon_variant BTCA-JP 3 49315854 49315854 single base substitution G A missense_variant R875C 2623C>T BTCA-JP 3 49315854 49315854 single base substitution G A missense_variant R922C 2764C>T BTCA-JP 3 49321895 49321895 single base substitution G A downstream_gene_variant BTCA-JP 3 49321895 49321895 single base substitution G A splice_region_variant BTCA-JP 3 49343311 49343311 single base substitution T C exon_variant BTCA-JP 3 49343311 49343311 single base substitution T C missense_variant N275S 824A>G BTCA-JP 3 49343311 49343311 single base substitution T C missense_variant N322S 965A>G BTCA-JP 3 49343311 49343311 single base substitution T C missense_variant N78S 233A>G BTCA-JP 3 49354574 49354574 single base substitution C A exon_variant BTCA-JP 3 49354574 49354574 single base substitution C A intron_variant BTCA-JP 3 49354574 49354574 single base substitution C A missense_variant G345W 1033G>T BTCA-JP 3 49354574 49354574 single base substitution C A upstream_gene_variant BTCA-JP 3 49354990 49354990 single base substitution T G intron_variant BTCA-JP 3 49354990 49354990 single base substitution T G upstream_gene_variant BTCA-JP 3 49354991 49354991 single base substitution T G intron_variant BTCA-JP 3 49354991 49354991 single base substitution T G upstream_gene_variant BTCA-JP 3 49354992 49354992 single base substitution G A intron_variant BTCA-JP 3 49354992 49354992 single base substitution G A upstream_gene_variant BTCA-JP 3 49372943 49372943 single base substitution T A exon_variant BTCA-JP 3 49372943 49372943 single base substitution T A intron_variant BTCA-JP 3 49372943 49372943 single base substitution T A missense_variant N63I 188A>T BTCA-JP 3 49377486 49377486 single base substitution C A 5_prime_UTR_premature_start_codon_gain_variant BTCA-JP 3 49377486 49377486 single base substitution C A exon_variant BTCA-JP 3 49377486 49377486 single base substitution C A intron_variant BTCA-JP 3 49377486 49377486 single base substitution C A upstream_gene_variant CESC-US 3 49321551 49321551 single base substitution C G downstream_gene_variant CESC-US 3 49321551 49321551 single base substitution C G exon_variant CESC-US 3 49321551 49321551 single base substitution C G missense_variant K541N 1623G>C CESC-US 3 49321551 49321551 single base substitution C G missense_variant K756N 2268G>C CESC-US 3 49321551 49321551 single base substitution C G missense_variant K803N 2409G>C CESC-US 3 49321551 49321551 single base substitution C G upstream_gene_variant CESC-US 3 49331005 49331005 single base substitution G A downstream_gene_variant CESC-US 3 49331005 49331005 single base substitution G A exon_variant CESC-US 3 49331005 49331005 single base substitution G A intron_variant CESC-US 3 49349008 49349008 single base substitution G C downstream_gene_variant CESC-US 3 49349008 49349008 single base substitution G C exon_variant CESC-US 3 49349008 49349008 single base substitution G C intron_variant CESC-US 3 49349008 49349008 single base substitution G C missense_variant L15V 43C>G CESC-US 3 49349008 49349008 single base substitution G C missense_variant L259V 775C>G CESC-US 3 49372952 49372952 single base substitution C T exon_variant CESC-US 3 49372952 49372952 single base substitution C T intron_variant CESC-US 3 49372952 49372952 single base substitution C T missense_variant G60D 179G>A CLLE-ES 3 49334271 49334271 single base substitution G A downstream_gene_variant CLLE-ES 3 49334271 49334271 single base substitution G A intron_variant CLLE-ES 3 49334271 49334271 single base substitution G A upstream_gene_variant CLLE-ES 3 49340169 49340169 single base substitution G C downstream_gene_variant CLLE-ES 3 49340169 49340169 single base substitution G C intron_variant CLLE-ES 3 49360380 49360380 single base substitution G T downstream_gene_variant CLLE-ES 3 49360380 49360380 single base substitution G T intron_variant CLLE-ES 3 49360380 49360380 single base substitution G T upstream_gene_variant CLLE-ES 3 49365133 49365133 single base substitution G T exon_variant CLLE-ES 3 49365133 49365133 single base substitution G T missense_variant P116T 346C>A CLLE-ES 3 49367829 49367829 single base substitution C T intron_variant CLLE-ES 3 49373523 49373523 single base substitution C T intron_variant COAD-US 3 49314031 49314031 single base substitution G A downstream_gene_variant COAD-US 3 49316277 49316277 single base substitution G A exon_variant COAD-US 3 49316277 49316277 single base substitution G A intron_variant COAD-US 3 49316277 49316277 single base substitution G A synonymous_variant N854N 2562C>T COAD-US 3 49316277 49316277 single base substitution G A synonymous_variant N901N 2703C>T COAD-US 3 49331973 49331973 single base substitution A C downstream_gene_variant COAD-US 3 49331973 49331973 single base substitution A C exon_variant COAD-US 3 49331973 49331973 single base substitution A C missense_variant F322V 964T>G COAD-US 3 49331973 49331973 single base substitution A C missense_variant F537V 1609T>G COAD-US 3 49331973 49331973 single base substitution A C missense_variant F584V 1750T>G COAD-US 3 49331973 49331973 single base substitution A C upstream_gene_variant COAD-US 3 49335388 49335388 single base substitution C T downstream_gene_variant COAD-US 3 49335388 49335388 single base substitution C T exon_variant COAD-US 3 49335388 49335388 single base substitution C T missense_variant A274T 820G>A COAD-US 3 49335388 49335388 single base substitution C T missense_variant A489T 1465G>A COAD-US 3 49335388 49335388 single base substitution C T missense_variant A536T 1606G>A COAD-US 3 49335388 49335388 single base substitution C T upstream_gene_variant COAD-US 3 49343236 49343236 single base substitution A G exon_variant COAD-US 3 49343236 49343236 single base substitution A G missense_variant M103T 308T>C COAD-US 3 49343236 49343236 single base substitution A G missense_variant M300T 899T>C COAD-US 3 49343236 49343236 single base substitution A G missense_variant M347T 1040T>C COAD-US 3 49348097 49348097 single base substitution G A downstream_gene_variant COAD-US 3 49348097 49348097 single base substitution G A exon_variant COAD-US 3 49348097 49348097 single base substitution G A intron_variant COAD-US 3 49348097 49348097 single base substitution G A missense_variant L257F 769C>T COAD-US 3 49348097 49348097 single base substitution G A missense_variant L304F 910C>T COAD-US 3 49348097 49348097 single base substitution G A missense_variant L60F 178C>T COCA-CN 3 49314228 49314228 single base substitution T C downstream_gene_variant COCA-CN 3 49314272 49314272 single base substitution C A downstream_gene_variant COCA-CN 3 49315851 49315851 single base substitution G A 3_prime_UTR_variant COCA-CN 3 49315851 49315851 single base substitution G A exon_variant COCA-CN 3 49315851 49315851 single base substitution G A stop_gained R876* 2626C>T COCA-CN 3 49315851 49315851 single base substitution G A stop_gained R923* 2767C>T COCA-CN 3 49318215 49318215 single base substitution G A downstream_gene_variant COCA-CN 3 49318215 49318215 single base substitution G A exon_variant COCA-CN 3 49318215 49318215 single base substitution G A missense_variant A607V 1820C>T COCA-CN 3 49318215 49318215 single base substitution G A missense_variant A822V 2465C>T COCA-CN 3 49318215 49318215 single base substitution G A missense_variant A869V 2606C>T COCA-CN 3 49318215 49318215 single base substitution G A upstream_gene_variant COCA-CN 3 49321437 49321437 single base substitution G A downstream_gene_variant COCA-CN 3 49321437 49321437 single base substitution G A exon_variant COCA-CN 3 49321437 49321437 single base substitution G A synonymous_variant V579V 1737C>T COCA-CN 3 49321437 49321437 single base substitution G A synonymous_variant V794V 2382C>T COCA-CN 3 49321437 49321437 single base substitution G A synonymous_variant V841V 2523C>T COCA-CN 3 49321437 49321437 single base substitution G A upstream_gene_variant COCA-CN 3 49332036 49332036 single base substitution G A downstream_gene_variant COCA-CN 3 49332036 49332036 single base substitution G A splice_region_variant COCA-CN 3 49332036 49332036 single base substitution G A upstream_gene_variant COCA-CN 3 49336097 49336097 single base substitution G T downstream_gene_variant COCA-CN 3 49336097 49336097 single base substitution G T intron_variant COCA-CN 3 49342800 49342800 single base substitution A C downstream_gene_variant COCA-CN 3 49342800 49342800 single base substitution A C intron_variant COCA-CN 3 49349067 49349067 single base substitution C A downstream_gene_variant COCA-CN 3 49349067 49349067 single base substitution C A exon_variant COCA-CN 3 49349067 49349067 single base substitution C A intron_variant COCA-CN 3 49349067 49349067 single base substitution C A missense_variant R239I 716G>T COCA-CN 3 49349067 49349067 single base substitution C A upstream_gene_variant COCA-CN 3 49354971 49354971 single base substitution G T intron_variant COCA-CN 3 49354971 49354971 single base substitution G T upstream_gene_variant COCA-CN 3 49354975 49354975 single base substitution G T intron_variant COCA-CN 3 49354975 49354975 single base substitution G T upstream_gene_variant EOPC-DE 3 49310484 49310484 single base substitution T C downstream_gene_variant EOPC-DE 3 49318964 49318964 single base substitution C T downstream_gene_variant EOPC-DE 3 49318964 49318964 single base substitution C T intron_variant EOPC-DE 3 49318964 49318964 single base substitution C T upstream_gene_variant EOPC-DE 3 49330849 49330849 single base substitution T C downstream_gene_variant EOPC-DE 3 49330849 49330849 single base substitution T C intron_variant ESAD-UK 3 49311589 49311589 insertion of <=200bp - G downstream_gene_variant ESAD-UK 3 49312016 49312016 single base substitution G A downstream_gene_variant ESAD-UK 3 49312402 49312402 single base substitution G A downstream_gene_variant ESAD-UK 3 49312694 49312694 single base substitution G A downstream_gene_variant ESAD-UK 3 49313478 49313478 single base substitution C T downstream_gene_variant ESAD-UK 3 49313638 49313638 single base substitution C G downstream_gene_variant ESAD-UK 3 49313806 49313806 single base substitution C A downstream_gene_variant ESAD-UK 3 49313905 49313905 single base substitution C T downstream_gene_variant ESAD-UK 3 49313943 49313943 single base substitution C G downstream_gene_variant ESAD-UK 3 49314047 49314047 single base substitution C G downstream_gene_variant ESAD-UK 3 49314234 49314234 single base substitution C G downstream_gene_variant ESAD-UK 3 49314263 49314263 single base substitution C A downstream_gene_variant ESAD-UK 3 49314291 49314291 single base substitution C G downstream_gene_variant ESAD-UK 3 49314595 49314595 single base substitution C G downstream_gene_variant ESAD-UK 3 49314658 49314658 single base substitution A T downstream_gene_variant ESAD-UK 3 49314802 49314802 single base substitution G C downstream_gene_variant ESAD-UK 3 49315805 49315805 single base substitution G A 3_prime_UTR_variant ESAD-UK 3 49315805 49315805 single base substitution G A exon_variant ESAD-UK 3 49315805 49315805 single base substitution G A missense_variant S891F 2672C>T ESAD-UK 3 49315805 49315805 single base substitution G A missense_variant S938F 2813C>T ESAD-UK 3 49316238 49316238 single base substitution C T intron_variant ESAD-UK 3 49318226 49318226 single base substitution G C downstream_gene_variant ESAD-UK 3 49318226 49318226 single base substitution G C exon_variant ESAD-UK 3 49318226 49318226 single base substitution G C stop_gained Y603* 1809C>G ESAD-UK 3 49318226 49318226 single base substitution G C stop_gained Y818* 2454C>G ESAD-UK 3 49318226 49318226 single base substitution G C stop_gained Y865* 2595C>G ESAD-UK 3 49318226 49318226 single base substitution G C upstream_gene_variant ESAD-UK 3 49318843 49318843 single base substitution C T downstream_gene_variant ESAD-UK 3 49318843 49318843 single base substitution C T intron_variant ESAD-UK 3 49318843 49318843 single base substitution C T upstream_gene_variant ESAD-UK 3 49319869 49319869 single base substitution A C downstream_gene_variant ESAD-UK 3 49319869 49319869 single base substitution A C intron_variant ESAD-UK 3 49319869 49319869 single base substitution A C upstream_gene_variant ESAD-UK 3 49320353 49320353 single base substitution C T downstream_gene_variant ESAD-UK 3 49320353 49320353 single base substitution C T intron_variant ESAD-UK 3 49320353 49320353 single base substitution C T upstream_gene_variant ESAD-UK 3 49321343 49321343 single base substitution A G downstream_gene_variant ESAD-UK 3 49321343 49321343 single base substitution A G intron_variant ESAD-UK 3 49321343 49321343 single base substitution A G upstream_gene_variant ESAD-UK 3 49322762 49322762 single base substitution C A intron_variant ESAD-UK 3 49323126 49323126 single base substitution C A intron_variant ESAD-UK 3 49323288 49323288 single base substitution G A intron_variant ESAD-UK 3 49324126 49324126 single base substitution C A intron_variant ESAD-UK 3 49326113 49326117 deletion of <=200bp AAAAG - intron_variant ESAD-UK 3 49328307 49328307 single base substitution G A intron_variant ESAD-UK 3 49333773 49333779 deletion of <=200bp AAATAAA - downstream_gene_variant ESAD-UK 3 49333773 49333779 deletion of <=200bp AAATAAA - intron_variant ESAD-UK 3 49333773 49333779 deletion of <=200bp AAATAAA - upstream_gene_variant ESAD-UK 3 49334293 49334293 single base substitution G A downstream_gene_variant ESAD-UK 3 49334293 49334293 single base substitution G A intron_variant ESAD-UK 3 49334293 49334293 single base substitution G A upstream_gene_variant ESAD-UK 3 49341063 49341063 single base substitution A T downstream_gene_variant ESAD-UK 3 49341063 49341063 single base substitution A T intron_variant ESAD-UK 3 49342548 49342548 single base substitution C A downstream_gene_variant ESAD-UK 3 49342548 49342548 single base substitution C A intron_variant ESAD-UK 3 49342839 49342839 single base substitution C T downstream_gene_variant ESAD-UK 3 49342839 49342839 single base substitution C T intron_variant ESAD-UK 3 49353639 49353643 deletion of <=200bp AAAAT - downstream_gene_variant ESAD-UK 3 49353639 49353643 deletion of <=200bp AAAAT - intron_variant ESAD-UK 3 49353639 49353643 deletion of <=200bp AAAAT - upstream_gene_variant ESAD-UK 3 49354863 49354863 single base substitution G A exon_variant ESAD-UK 3 49354863 49354863 single base substitution G A intron_variant ESAD-UK 3 49354863 49354863 single base substitution G A synonymous_variant Y248Y 744C>T ESAD-UK 3 49354863 49354863 single base substitution G A upstream_gene_variant ESAD-UK 3 49359137 49359137 insertion of <=200bp - T downstream_gene_variant ESAD-UK 3 49359137 49359137 insertion of <=200bp - T intron_variant ESAD-UK 3 49359137 49359137 insertion of <=200bp - T upstream_gene_variant ESAD-UK 3 49360012 49360012 single base substitution C T downstream_gene_variant ESAD-UK 3 49360012 49360012 single base substitution C T intron_variant ESAD-UK 3 49360012 49360012 single base substitution C T upstream_gene_variant ESAD-UK 3 49361542 49361542 single base substitution G A downstream_gene_variant ESAD-UK 3 49361542 49361542 single base substitution G A intron_variant ESAD-UK 3 49361683 49361683 single base substitution C T downstream_gene_variant ESAD-UK 3 49361683 49361683 single base substitution C T intron_variant ESAD-UK 3 49363037 49363037 single base substitution G A intron_variant ESAD-UK 3 49368323 49368323 single base substitution C T intron_variant ESAD-UK 3 49373143 49373143 deletion of <=200bp A - intron_variant ESCA-CN 3 49314121 49314131 deletion of <=200bp CTGTGCACGGG - downstream_gene_variant ESCA-CN 3 49322000 49322000 single base substitution C T exon_variant ESCA-CN 3 49322000 49322000 single base substitution C T synonymous_variant V501V 1503G>A ESCA-CN 3 49322000 49322000 single base substitution C T synonymous_variant V716V 2148G>A ESCA-CN 3 49322000 49322000 single base substitution C T synonymous_variant V763V 2289G>A ESCA-CN 3 49323674 49323674 single base substitution C T exon_variant ESCA-CN 3 49323674 49323674 single base substitution C T missense_variant G424E 1271G>A ESCA-CN 3 49323674 49323674 single base substitution C T missense_variant G639E 1916G>A ESCA-CN 3 49323674 49323674 single base substitution C T missense_variant G686E 2057G>A ESCA-CN 3 49343223 49343223 single base substitution A C exon_variant ESCA-CN 3 49343223 49343223 single base substitution A C missense_variant I107M 321T>G ESCA-CN 3 49343223 49343223 single base substitution A C missense_variant I304M 912T>G ESCA-CN 3 49343223 49343223 single base substitution A C missense_variant I351M 1053T>G ESCA-CN 3 49363234 49363234 single base substitution C T exon_variant ESCA-CN 3 49363234 49363234 single base substitution C T intron_variant ESCA-CN 3 49363234 49363234 single base substitution C T synonymous_variant V135V 405G>A KIRC-US 3 49314185 49314185 single base substitution A G downstream_gene_variant KIRC-US 3 49321434 49321434 single base substitution T A downstream_gene_variant KIRC-US 3 49321434 49321434 single base substitution T A exon_variant KIRC-US 3 49321434 49321434 single base substitution T A synonymous_variant V580V 1740A>T KIRC-US 3 49321434 49321434 single base substitution T A synonymous_variant V795V 2385A>T KIRC-US 3 49321434 49321434 single base substitution T A synonymous_variant V842V 2526A>T KIRC-US 3 49321434 49321434 single base substitution T A upstream_gene_variant KIRC-US 3 49337921 49337921 single base substitution G A downstream_gene_variant KIRC-US 3 49337921 49337921 single base substitution G A exon_variant KIRC-US 3 49337921 49337921 single base substitution G A intron_variant KIRC-US 3 49337921 49337921 single base substitution G A synonymous_variant D235D 705C>T KIRC-US 3 49337921 49337921 single base substitution G A synonymous_variant D450D 1350C>T KIRC-US 3 49337921 49337921 single base substitution G A synonymous_variant D497D 1491C>T KIRC-US 3 49373006 49373006 single base substitution A C exon_variant KIRC-US 3 49373006 49373006 single base substitution A C intron_variant KIRC-US 3 49373006 49373006 single base substitution A C missense_variant F42C 125T>G KIRP-US 3 49362339 49362339 single base substitution T C exon_variant KIRP-US 3 49362339 49362339 single base substitution T C intron_variant KIRP-US 3 49362339 49362339 single base substitution T C synonymous_variant L207L 621A>G LAML-KR 3 49312425 49312425 single base substitution C G downstream_gene_variant LAML-KR 3 49313759 49313759 single base substitution G T downstream_gene_variant LAML-KR 3 49333975 49333975 single base substitution G A downstream_gene_variant LAML-KR 3 49333975 49333975 single base substitution G A intron_variant LAML-KR 3 49333975 49333975 single base substitution G A upstream_gene_variant LAML-KR 3 49342474 49342474 single base substitution A C downstream_gene_variant LAML-KR 3 49342474 49342474 single base substitution A C intron_variant LAML-KR 3 49355260 49355260 single base substitution C T intron_variant LAML-KR 3 49355260 49355260 single base substitution C T upstream_gene_variant LAML-KR 3 49355520 49355520 single base substitution T C intron_variant LAML-KR 3 49355520 49355520 single base substitution T C upstream_gene_variant LICA-CN 3 49377380 49377380 single base substitution G A exon_variant LICA-CN 3 49377380 49377380 single base substitution G A intron_variant LICA-CN 3 49377380 49377380 single base substitution G A synonymous_variant T26T 78C>T LICA-FR 3 49323674 49323674 single base substitution C A exon_variant LICA-FR 3 49323674 49323674 single base substitution C A missense_variant G424V 1271G>T LICA-FR 3 49323674 49323674 single base substitution C A missense_variant G639V 1916G>T LICA-FR 3 49323674 49323674 single base substitution C A missense_variant G686V 2057G>T LICA-FR 3 49326408 49326408 single base substitution T A intron_variant LICA-FR 3 49328713 49328713 deletion of <=200bp A - intron_variant LICA-FR 3 49329247 49329247 deletion of <=200bp T - intron_variant LICA-FR 3 49339623 49339623 deletion of <=200bp A - downstream_gene_variant LICA-FR 3 49339623 49339623 deletion of <=200bp A - intron_variant LICA-FR 3 49347376 49347376 single base substitution C T downstream_gene_variant LICA-FR 3 49347376 49347376 single base substitution C T intron_variant LICA-FR 3 49351197 49351197 single base substitution G A downstream_gene_variant LICA-FR 3 49351197 49351197 single base substitution G A intron_variant LICA-FR 3 49351197 49351197 single base substitution G A upstream_gene_variant LICA-FR 3 49362134 49362134 single base substitution C G downstream_gene_variant LICA-FR 3 49362134 49362134 single base substitution C G exon_variant LICA-FR 3 49362134 49362134 single base substitution C G intron_variant LICA-FR 3 49362134 49362134 single base substitution C G splice_donor_variant LICA-FR 3 49377438 49377438 single base substitution C T exon_variant LICA-FR 3 49377438 49377438 single base substitution C T intron_variant LICA-FR 3 49377438 49377438 single base substitution C T missense_variant C7Y 20G>A LICA-FR 3 49378943 49378943 insertion of <=200bp - AA upstream_gene_variant LIHC-US 3 49316327 49316327 single base substitution A G exon_variant LIHC-US 3 49316327 49316327 single base substitution A G intron_variant LIHC-US 3 49316327 49316327 single base substitution A G missense_variant Y838H 2512T>C LIHC-US 3 49316327 49316327 single base substitution A G missense_variant Y885H 2653T>C LIHC-US 3 49321560 49321560 single base substitution G A downstream_gene_variant LIHC-US 3 49321560 49321560 single base substitution G A exon_variant LIHC-US 3 49321560 49321560 single base substitution G A synonymous_variant P538P 1614C>T LIHC-US 3 49321560 49321560 single base substitution G A synonymous_variant P753P 2259C>T LIHC-US 3 49321560 49321560 single base substitution G A synonymous_variant P800P 2400C>T LIHC-US 3 49321560 49321560 single base substitution G A upstream_gene_variant LIHC-US 3 49362451 49362451 single base substitution C A exon_variant LIHC-US 3 49362451 49362451 single base substitution C A intron_variant LIHC-US 3 49362451 49362451 single base substitution C A missense_variant R170L 509G>T LIHC-US 3 49365180 49365180 single base substitution G C exon_variant LIHC-US 3 49365180 49365180 single base substitution G C missense_variant A100G 299C>G LINC-JP 3 49311890 49311890 single base substitution A T downstream_gene_variant LINC-JP 3 49316878 49316878 insertion of <=200bp - A intron_variant LINC-JP 3 49316878 49316878 insertion of <=200bp - A upstream_gene_variant LINC-JP 3 49323909 49323909 single base substitution C A intron_variant LINC-JP 3 49325279 49325279 single base substitution T A intron_variant LINC-JP 3 49338184 49338184 single base substitution C A intron_variant LINC-JP 3 49354991 49354991 single base substitution T G intron_variant LINC-JP 3 49354991 49354991 single base substitution T G upstream_gene_variant LINC-JP 3 49354992 49354992 single base substitution G A intron_variant LINC-JP 3 49354992 49354992 single base substitution G A upstream_gene_variant LINC-JP 3 49359216 49359216 single base substitution T C downstream_gene_variant LINC-JP 3 49359216 49359216 single base substitution T C intron_variant LINC-JP 3 49359216 49359216 single base substitution T C upstream_gene_variant LINC-JP 3 49378962 49378962 single base substitution G A upstream_gene_variant LIRI-JP 3 49312861 49312861 single base substitution T C downstream_gene_variant LIRI-JP 3 49313405 49313405 single base substitution G T downstream_gene_variant LIRI-JP 3 49313435 49313435 single base substitution G A downstream_gene_variant LIRI-JP 3 49315191 49315191 single base substitution A G downstream_gene_variant LIRI-JP 3 49315894 49315894 single base substitution A C intron_variant LIRI-JP 3 49316603 49316603 single base substitution G A exon_variant LIRI-JP 3 49316603 49316603 single base substitution G A intron_variant LIRI-JP 3 49318883 49318883 single base substitution C T downstream_gene_variant LIRI-JP 3 49318883 49318883 single base substitution C T intron_variant LIRI-JP 3 49318883 49318883 single base substitution C T upstream_gene_variant LIRI-JP 3 49319965 49319965 single base substitution C T downstream_gene_variant LIRI-JP 3 49319965 49319965 single base substitution C T intron_variant LIRI-JP 3 49319965 49319965 single base substitution C T upstream_gene_variant LIRI-JP 3 49321245 49321245 single base substitution A G downstream_gene_variant LIRI-JP 3 49321245 49321245 single base substitution A G intron_variant LIRI-JP 3 49321245 49321245 single base substitution A G upstream_gene_variant LIRI-JP 3 49322054 49322054 single base substitution G C intron_variant LIRI-JP 3 49323702 49323702 single base substitution T C exon_variant LIRI-JP 3 49323702 49323702 single base substitution T C missense_variant T415A 1243A>G LIRI-JP 3 49323702 49323702 single base substitution T C missense_variant T630A 1888A>G LIRI-JP 3 49323702 49323702 single base substitution T C missense_variant T677A 2029A>G LIRI-JP 3 49324615 49324615 single base substitution T A intron_variant LIRI-JP 3 49325185 49325185 single base substitution G A intron_variant LIRI-JP 3 49326070 49326070 single base substitution T G intron_variant LIRI-JP 3 49327936 49327936 single base substitution T C intron_variant LIRI-JP 3 49329672 49329672 single base substitution T C intron_variant LIRI-JP 3 49338398 49338398 single base substitution T C downstream_gene_variant LIRI-JP 3 49338398 49338398 single base substitution T C intron_variant LIRI-JP 3 49338459 49338459 single base substitution C T downstream_gene_variant LIRI-JP 3 49338459 49338459 single base substitution C T intron_variant LIRI-JP 3 49338470 49338470 single base substitution C G downstream_gene_variant LIRI-JP 3 49338470 49338470 single base substitution C G intron_variant LIRI-JP 3 49339242 49339242 single base substitution A C downstream_gene_variant LIRI-JP 3 49339242 49339242 single base substitution A C intron_variant LIRI-JP 3 49341073 49341073 single base substitution G T downstream_gene_variant LIRI-JP 3 49341073 49341073 single base substitution G T intron_variant LIRI-JP 3 49348941 49348941 single base substitution T A downstream_gene_variant LIRI-JP 3 49348941 49348941 single base substitution T A intron_variant LIRI-JP 3 49348941 49348941 single base substitution T A splice_region_variant LIRI-JP 3 49350572 49350572 single base substitution C T downstream_gene_variant LIRI-JP 3 49350572 49350572 single base substitution C T intron_variant LIRI-JP 3 49350572 49350572 single base substitution C T upstream_gene_variant LIRI-JP 3 49353078 49353078 single base substitution A G downstream_gene_variant LIRI-JP 3 49353078 49353078 single base substitution A G intron_variant LIRI-JP 3 49353078 49353078 single base substitution A G upstream_gene_variant LIRI-JP 3 49353623 49353623 single base substitution G A downstream_gene_variant LIRI-JP 3 49353623 49353623 single base substitution G A intron_variant LIRI-JP 3 49353623 49353623 single base substitution G A upstream_gene_variant LIRI-JP 3 49357743 49357743 single base substitution C T downstream_gene_variant LIRI-JP 3 49357743 49357743 single base substitution C T intron_variant LIRI-JP 3 49357743 49357743 single base substitution C T upstream_gene_variant LIRI-JP 3 49360094 49360094 single base substitution G A downstream_gene_variant LIRI-JP 3 49360094 49360094 single base substitution G A intron_variant LIRI-JP 3 49360094 49360094 single base substitution G A upstream_gene_variant LIRI-JP 3 49362905 49362905 single base substitution C T intron_variant LIRI-JP 3 49363578 49363578 single base substitution C T intron_variant LIRI-JP 3 49365948 49365948 single base substitution T C intron_variant LIRI-JP 3 49367131 49367131 single base substitution G A intron_variant LIRI-JP 3 49370100 49370100 single base substitution G A intron_variant LIRI-JP 3 49374028 49374028 single base substitution G T intron_variant LIRI-JP 3 49378148 49378148 single base substitution T G upstream_gene_variant LIRI-JP 3 49378170 49378170 single base substitution C T upstream_gene_variant LIRI-JP 3 49378383 49378383 single base substitution G T upstream_gene_variant LUSC-KR 3 49314666 49314666 single base substitution G A downstream_gene_variant LUSC-KR 3 49336780 49336780 single base substitution T C downstream_gene_variant LUSC-KR 3 49336780 49336780 single base substitution T C intron_variant LUSC-KR 3 49336781 49336781 single base substitution G A downstream_gene_variant LUSC-KR 3 49336781 49336781 single base substitution G A intron_variant LUSC-KR 3 49341122 49341122 single base substitution C A downstream_gene_variant LUSC-KR 3 49341122 49341122 single base substitution C A intron_variant LUSC-KR 3 49341198 49341198 single base substitution T G downstream_gene_variant LUSC-KR 3 49341198 49341198 single base substitution T G intron_variant LUSC-KR 3 49342474 49342474 single base substitution A C downstream_gene_variant LUSC-KR 3 49342474 49342474 single base substitution A C intron_variant LUSC-KR 3 49342539 49342539 single base substitution T C downstream_gene_variant LUSC-KR 3 49342539 49342539 single base substitution T C intron_variant LUSC-KR 3 49343175 49343175 single base substitution G A downstream_gene_variant LUSC-KR 3 49343175 49343175 single base substitution G A exon_variant LUSC-KR 3 49343175 49343175 single base substitution G A synonymous_variant D123D 369C>T LUSC-KR 3 49343175 49343175 single base substitution G A synonymous_variant D320D 960C>T LUSC-KR 3 49343175 49343175 single base substitution G A synonymous_variant D367D 1101C>T LUSC-KR 3 49357509 49357509 single base substitution C T downstream_gene_variant LUSC-KR 3 49357509 49357509 single base substitution C T intron_variant LUSC-KR 3 49357509 49357509 single base substitution C T upstream_gene_variant LUSC-KR 3 49362369 49362369 single base substitution C T exon_variant LUSC-KR 3 49362369 49362369 single base substitution C T intron_variant LUSC-KR 3 49362369 49362369 single base substitution C T synonymous_variant K197K 591G>A LUSC-KR 3 49365026 49365026 single base substitution G C intron_variant LUSC-KR 3 49367385 49367385 single base substitution C A intron_variant LUSC-KR 3 49382087 49382087 single base substitution G T upstream_gene_variant LUSC-KR 3 49382201 49382201 single base substitution G A upstream_gene_variant LUSC-US 3 49314135 49314135 single base substitution C T downstream_gene_variant LUSC-US 3 49314221 49314221 single base substitution C A downstream_gene_variant LUSC-US 3 49318254 49318254 single base substitution C T downstream_gene_variant LUSC-US 3 49318254 49318254 single base substitution C T exon_variant LUSC-US 3 49318254 49318254 single base substitution C T missense_variant C594Y 1781G>A LUSC-US 3 49318254 49318254 single base substitution C T missense_variant C809Y 2426G>A LUSC-US 3 49318254 49318254 single base substitution C T missense_variant C856Y 2567G>A LUSC-US 3 49318254 49318254 single base substitution C T upstream_gene_variant MALY-DE 3 49319443 49319443 insertion of <=200bp - A downstream_gene_variant MALY-DE 3 49319443 49319443 insertion of <=200bp - A intron_variant MALY-DE 3 49319443 49319443 insertion of <=200bp - A upstream_gene_variant MALY-DE 3 49328307 49328307 single base substitution G A intron_variant MALY-DE 3 49335681 49335681 single base substitution T A downstream_gene_variant MALY-DE 3 49335681 49335681 single base substitution T A intron_variant MALY-DE 3 49335681 49335681 single base substitution T A upstream_gene_variant MALY-DE 3 49367643 49367643 single base substitution G A intron_variant MALY-DE 3 49381605 49381605 single base substitution A G upstream_gene_variant MALY-DE 3 49382362 49382362 single base substitution G A upstream_gene_variant MELA-AU 3 49311232 49311232 single base substitution G A downstream_gene_variant MELA-AU 3 49311268 49311268 single base substitution T C downstream_gene_variant MELA-AU 3 49311802 49311804 deletion of <=200bp TTC - downstream_gene_variant MELA-AU 3 49312179 49312179 single base substitution G T downstream_gene_variant MELA-AU 3 49312429 49312429 single base substitution T A downstream_gene_variant MELA-AU 3 49312595 49312595 single base substitution G A downstream_gene_variant MELA-AU 3 49312868 49312868 single base substitution G A downstream_gene_variant MELA-AU 3 49314265 49314265 single base substitution G A downstream_gene_variant MELA-AU 3 49315267 49315267 single base substitution A T 3_prime_UTR_variant MELA-AU 3 49315267 49315267 single base substitution A T downstream_gene_variant MELA-AU 3 49316255 49316255 single base substitution G A exon_variant MELA-AU 3 49316255 49316255 single base substitution G A intron_variant MELA-AU 3 49316255 49316255 single base substitution G A stop_gained Q862* 2584C>T MELA-AU 3 49316255 49316255 single base substitution G A stop_gained Q909* 2725C>T MELA-AU 3 49317913 49317913 single base substitution G A downstream_gene_variant MELA-AU 3 49317913 49317913 single base substitution G A intron_variant MELA-AU 3 49317913 49317913 single base substitution G A upstream_gene_variant MELA-AU 3 49318369 49318369 single base substitution G C downstream_gene_variant MELA-AU 3 49318369 49318369 single base substitution G C intron_variant MELA-AU 3 49318369 49318369 single base substitution G C upstream_gene_variant MELA-AU 3 49318613 49318613 single base substitution C T downstream_gene_variant MELA-AU 3 49318613 49318613 single base substitution C T intron_variant MELA-AU 3 49318613 49318613 single base substitution C T upstream_gene_variant MELA-AU 3 49319594 49319594 single base substitution C T downstream_gene_variant MELA-AU 3 49319594 49319594 single base substitution C T intron_variant MELA-AU 3 49319594 49319594 single base substitution C T upstream_gene_variant MELA-AU 3 49319704 49319704 single base substitution G A downstream_gene_variant MELA-AU 3 49319704 49319704 single base substitution G A intron_variant MELA-AU 3 49319704 49319704 single base substitution G A upstream_gene_variant MELA-AU 3 49320175 49320175 single base substitution C T downstream_gene_variant MELA-AU 3 49320175 49320175 single base substitution C T intron_variant MELA-AU 3 49320175 49320175 single base substitution C T upstream_gene_variant MELA-AU 3 49320189 49320190 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 3 49320189 49320190 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 49320189 49320190 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 3 49320630 49320630 single base substitution G A downstream_gene_variant MELA-AU 3 49320630 49320630 single base substitution G A intron_variant MELA-AU 3 49320630 49320630 single base substitution G A upstream_gene_variant MELA-AU 3 49320729 49320729 single base substitution G A downstream_gene_variant MELA-AU 3 49320729 49320729 single base substitution G A intron_variant MELA-AU 3 49320729 49320729 single base substitution G A upstream_gene_variant MELA-AU 3 49321426 49321426 single base substitution G A downstream_gene_variant MELA-AU 3 49321426 49321426 single base substitution G A exon_variant MELA-AU 3 49321426 49321426 single base substitution G A missense_variant P583L 1748C>T MELA-AU 3 49321426 49321426 single base substitution G A missense_variant P798L 2393C>T MELA-AU 3 49321426 49321426 single base substitution G A missense_variant P845L 2534C>T MELA-AU 3 49321426 49321426 single base substitution G A upstream_gene_variant MELA-AU 3 49321815 49321815 single base substitution G A downstream_gene_variant MELA-AU 3 49321815 49321815 single base substitution G A intron_variant MELA-AU 3 49321865 49321866 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 3 49321865 49321866 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 49322680 49322680 single base substitution G A intron_variant MELA-AU 3 49322809 49322809 single base substitution G A intron_variant MELA-AU 3 49323187 49323187 single base substitution A G intron_variant MELA-AU 3 49323294 49323295 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 49324245 49324245 single base substitution G T intron_variant MELA-AU 3 49324247 49324247 single base substitution C T intron_variant MELA-AU 3 49325919 49325919 single base substitution G A intron_variant MELA-AU 3 49326133 49326133 single base substitution G A intron_variant MELA-AU 3 49326527 49326527 single base substitution G A intron_variant MELA-AU 3 49327009 49327009 single base substitution A C intron_variant MELA-AU 3 49327419 49327419 single base substitution G A intron_variant MELA-AU 3 49327422 49327422 single base substitution A G intron_variant MELA-AU 3 49327607 49327607 single base substitution G A intron_variant MELA-AU 3 49328419 49328419 single base substitution G A intron_variant MELA-AU 3 49329238 49329238 single base substitution C T intron_variant MELA-AU 3 49329277 49329277 single base substitution C T intron_variant MELA-AU 3 49329432 49329432 single base substitution G A intron_variant MELA-AU 3 49329433 49329433 single base substitution G A intron_variant MELA-AU 3 49330049 49330049 single base substitution G A intron_variant MELA-AU 3 49330479 49330479 single base substitution A C downstream_gene_variant MELA-AU 3 49330479 49330479 single base substitution A C intron_variant MELA-AU 3 49330579 49330579 single base substitution G T downstream_gene_variant MELA-AU 3 49330579 49330579 single base substitution G T intron_variant MELA-AU 3 49330916 49330916 insertion of <=200bp - AAC downstream_gene_variant MELA-AU 3 49330916 49330916 insertion of <=200bp - AAC intron_variant MELA-AU 3 49330919 49330919 insertion of <=200bp - A downstream_gene_variant MELA-AU 3 49330919 49330919 insertion of <=200bp - A intron_variant MELA-AU 3 49331552 49331552 single base substitution G A downstream_gene_variant MELA-AU 3 49331552 49331552 single base substitution G A intron_variant MELA-AU 3 49331552 49331552 single base substitution G A upstream_gene_variant MELA-AU 3 49332069 49332069 single base substitution G A downstream_gene_variant MELA-AU 3 49332069 49332069 single base substitution G A intron_variant MELA-AU 3 49332069 49332069 single base substitution G A upstream_gene_variant MELA-AU 3 49332545 49332545 single base substitution A G downstream_gene_variant MELA-AU 3 49332545 49332545 single base substitution A G intron_variant MELA-AU 3 49332545 49332545 single base substitution A G upstream_gene_variant MELA-AU 3 49332698 49332698 single base substitution G A downstream_gene_variant MELA-AU 3 49332698 49332698 single base substitution G A intron_variant MELA-AU 3 49332698 49332698 single base substitution G A upstream_gene_variant MELA-AU 3 49332745 49332745 single base substitution A G downstream_gene_variant MELA-AU 3 49332745 49332745 single base substitution A G intron_variant MELA-AU 3 49332745 49332745 single base substitution A G upstream_gene_variant MELA-AU 3 49333084 49333084 single base substitution G A downstream_gene_variant MELA-AU 3 49333084 49333084 single base substitution G A intron_variant MELA-AU 3 49333084 49333084 single base substitution G A upstream_gene_variant MELA-AU 3 49333085 49333085 single base substitution G A downstream_gene_variant MELA-AU 3 49333085 49333085 single base substitution G A intron_variant MELA-AU 3 49333085 49333085 single base substitution G A upstream_gene_variant MELA-AU 3 49333135 49333135 insertion of <=200bp - GC downstream_gene_variant MELA-AU 3 49333135 49333135 insertion of <=200bp - GC intron_variant MELA-AU 3 49333135 49333135 insertion of <=200bp - GC upstream_gene_variant MELA-AU 3 49333456 49333458 deletion of <=200bp ACA - downstream_gene_variant MELA-AU 3 49333456 49333458 deletion of <=200bp ACA - intron_variant MELA-AU 3 49333456 49333458 deletion of <=200bp ACA - upstream_gene_variant MELA-AU 3 49333805 49333805 single base substitution G A downstream_gene_variant MELA-AU 3 49333805 49333805 single base substitution G A intron_variant MELA-AU 3 49333805 49333805 single base substitution G A upstream_gene_variant MELA-AU 3 49334281 49334281 single base substitution A G downstream_gene_variant MELA-AU 3 49334281 49334281 single base substitution A G intron_variant MELA-AU 3 49334281 49334281 single base substitution A G upstream_gene_variant MELA-AU 3 49334334 49334334 single base substitution G A downstream_gene_variant MELA-AU 3 49334334 49334334 single base substitution G A intron_variant MELA-AU 3 49334334 49334334 single base substitution G A upstream_gene_variant MELA-AU 3 49334518 49334518 single base substitution G A downstream_gene_variant MELA-AU 3 49334518 49334518 single base substitution G A intron_variant MELA-AU 3 49334518 49334518 single base substitution G A upstream_gene_variant MELA-AU 3 49335181 49335181 single base substitution G A downstream_gene_variant MELA-AU 3 49335181 49335181 single base substitution G A intron_variant MELA-AU 3 49335181 49335181 single base substitution G A upstream_gene_variant MELA-AU 3 49336440 49336440 single base substitution G A downstream_gene_variant MELA-AU 3 49336440 49336440 single base substitution G A intron_variant MELA-AU 3 49337487 49337487 single base substitution G A downstream_gene_variant MELA-AU 3 49337487 49337487 single base substitution G A intron_variant MELA-AU 3 49337746 49337746 single base substitution G A downstream_gene_variant MELA-AU 3 49337746 49337746 single base substitution G A intron_variant MELA-AU 3 49337797 49337797 single base substitution C T downstream_gene_variant MELA-AU 3 49337797 49337797 single base substitution C T intron_variant MELA-AU 3 49337871 49337871 single base substitution G A downstream_gene_variant MELA-AU 3 49337871 49337871 single base substitution G A intron_variant MELA-AU 3 49338059 49338059 single base substitution G A exon_variant MELA-AU 3 49338059 49338059 single base substitution G A intron_variant MELA-AU 3 49338059 49338059 single base substitution G A synonymous_variant F189F 567C>T MELA-AU 3 49338059 49338059 single base substitution G A synonymous_variant F404F 1212C>T MELA-AU 3 49338059 49338059 single base substitution G A synonymous_variant F451F 1353C>T MELA-AU 3 49338795 49338795 single base substitution G A downstream_gene_variant MELA-AU 3 49338795 49338795 single base substitution G A intron_variant MELA-AU 3 49338820 49338820 single base substitution G A downstream_gene_variant MELA-AU 3 49338820 49338820 single base substitution G A intron_variant MELA-AU 3 49339395 49339395 single base substitution G A downstream_gene_variant MELA-AU 3 49339395 49339395 single base substitution G A intron_variant MELA-AU 3 49340155 49340155 single base substitution G A downstream_gene_variant MELA-AU 3 49340155 49340155 single base substitution G A intron_variant MELA-AU 3 49340242 49340242 single base substitution G A downstream_gene_variant MELA-AU 3 49340242 49340242 single base substitution G A intron_variant MELA-AU 3 49340370 49340370 single base substitution G A downstream_gene_variant MELA-AU 3 49340370 49340370 single base substitution G A intron_variant MELA-AU 3 49340428 49340428 single base substitution G A downstream_gene_variant MELA-AU 3 49340428 49340428 single base substitution G A intron_variant MELA-AU 3 49340768 49340768 single base substitution G A downstream_gene_variant MELA-AU 3 49340768 49340768 single base substitution G A intron_variant MELA-AU 3 49340801 49340801 single base substitution G A downstream_gene_variant MELA-AU 3 49340801 49340801 single base substitution G A intron_variant MELA-AU 3 49340971 49340971 deletion of <=200bp A - downstream_gene_variant MELA-AU 3 49340971 49340971 deletion of <=200bp A - intron_variant MELA-AU 3 49341455 49341455 single base substitution G A downstream_gene_variant MELA-AU 3 49341455 49341455 single base substitution G A intron_variant MELA-AU 3 49341911 49341911 single base substitution C T downstream_gene_variant MELA-AU 3 49341911 49341911 single base substitution C T intron_variant MELA-AU 3 49342330 49342330 single base substitution G A downstream_gene_variant MELA-AU 3 49342330 49342330 single base substitution G A intron_variant MELA-AU 3 49342601 49342602 multiple base substitution (>=2bp and <=200bp) GT AA downstream_gene_variant MELA-AU 3 49342601 49342602 multiple base substitution (>=2bp and <=200bp) GT AA intron_variant MELA-AU 3 49342612 49342612 single base substitution T G downstream_gene_variant MELA-AU 3 49342612 49342612 single base substitution T G intron_variant MELA-AU 3 49342968 49342968 single base substitution G A downstream_gene_variant MELA-AU 3 49342968 49342968 single base substitution G A intron_variant MELA-AU 3 49343202 49343202 single base substitution G A downstream_gene_variant MELA-AU 3 49343202 49343202 single base substitution G A exon_variant MELA-AU 3 49343202 49343202 single base substitution G A synonymous_variant L114L 342C>T MELA-AU 3 49343202 49343202 single base substitution G A synonymous_variant L311L 933C>T MELA-AU 3 49343202 49343202 single base substitution G A synonymous_variant L358L 1074C>T MELA-AU 3 49343541 49343541 single base substitution C T intron_variant MELA-AU 3 49344132 49344132 single base substitution G A intron_variant MELA-AU 3 49345092 49345092 single base substitution T C downstream_gene_variant MELA-AU 3 49345092 49345092 single base substitution T C intron_variant MELA-AU 3 49345887 49345887 single base substitution G A downstream_gene_variant MELA-AU 3 49345887 49345887 single base substitution G A intron_variant MELA-AU 3 49346202 49346202 single base substitution T A downstream_gene_variant MELA-AU 3 49346202 49346202 single base substitution T A intron_variant MELA-AU 3 49346721 49346721 single base substitution G A downstream_gene_variant MELA-AU 3 49346721 49346721 single base substitution G A intron_variant MELA-AU 3 49347045 49347046 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 3 49347045 49347046 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 49348746 49348747 multiple base substitution (>=2bp and <=200bp) CA AC downstream_gene_variant MELA-AU 3 49348746 49348747 multiple base substitution (>=2bp and <=200bp) CA AC intron_variant MELA-AU 3 49348905 49348906 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 3 49348905 49348906 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 49349566 49349566 single base substitution G A 3_prime_UTR_variant MELA-AU 3 49349566 49349566 single base substitution G A downstream_gene_variant MELA-AU 3 49349566 49349566 single base substitution G A exon_variant MELA-AU 3 49349566 49349566 single base substitution G A intron_variant MELA-AU 3 49349566 49349566 single base substitution G A upstream_gene_variant MELA-AU 3 49349593 49349593 single base substitution C T 3_prime_UTR_variant MELA-AU 3 49349593 49349593 single base substitution C T downstream_gene_variant MELA-AU 3 49349593 49349593 single base substitution C T exon_variant MELA-AU 3 49349593 49349593 single base substitution C T intron_variant MELA-AU 3 49349593 49349593 single base substitution C T upstream_gene_variant MELA-AU 3 49349980 49349980 single base substitution G A downstream_gene_variant MELA-AU 3 49349980 49349980 single base substitution G A exon_variant MELA-AU 3 49349980 49349980 single base substitution G A intron_variant MELA-AU 3 49349980 49349980 single base substitution G A synonymous_variant L254L 762C>T MELA-AU 3 49349980 49349980 single base substitution G A upstream_gene_variant MELA-AU 3 49350041 49350041 single base substitution G A downstream_gene_variant MELA-AU 3 49350041 49350041 single base substitution G A exon_variant MELA-AU 3 49350041 49350041 single base substitution G A intron_variant MELA-AU 3 49350041 49350041 single base substitution G A missense_variant S234L 701C>T MELA-AU 3 49350041 49350041 single base substitution G A upstream_gene_variant MELA-AU 3 49350348 49350348 single base substitution G A downstream_gene_variant MELA-AU 3 49350348 49350348 single base substitution G A intron_variant MELA-AU 3 49350348 49350348 single base substitution G A upstream_gene_variant MELA-AU 3 49350349 49350349 single base substitution G A downstream_gene_variant MELA-AU 3 49350349 49350349 single base substitution G A intron_variant MELA-AU 3 49350349 49350349 single base substitution G A upstream_gene_variant MELA-AU 3 49350540 49350540 single base substitution G A downstream_gene_variant MELA-AU 3 49350540 49350540 single base substitution G A intron_variant MELA-AU 3 49350540 49350540 single base substitution G A upstream_gene_variant MELA-AU 3 49350561 49350561 single base substitution T C downstream_gene_variant MELA-AU 3 49350561 49350561 single base substitution T C intron_variant MELA-AU 3 49350561 49350561 single base substitution T C upstream_gene_variant MELA-AU 3 49351067 49351067 single base substitution G A downstream_gene_variant MELA-AU 3 49351067 49351067 single base substitution G A intron_variant MELA-AU 3 49351067 49351067 single base substitution G A upstream_gene_variant MELA-AU 3 49351147 49351147 single base substitution A G downstream_gene_variant MELA-AU 3 49351147 49351147 single base substitution A G intron_variant MELA-AU 3 49351147 49351147 single base substitution A G upstream_gene_variant MELA-AU 3 49352852 49352852 single base substitution G A downstream_gene_variant MELA-AU 3 49352852 49352852 single base substitution G A intron_variant MELA-AU 3 49352852 49352852 single base substitution G A upstream_gene_variant MELA-AU 3 49353120 49353121 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 3 49353120 49353121 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 49353120 49353121 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 3 49353150 49353150 insertion of <=200bp - AATC downstream_gene_variant MELA-AU 3 49353150 49353150 insertion of <=200bp - AATC intron_variant MELA-AU 3 49353150 49353150 insertion of <=200bp - AATC upstream_gene_variant MELA-AU 3 49353191 49353191 single base substitution G A downstream_gene_variant MELA-AU 3 49353191 49353191 single base substitution G A intron_variant MELA-AU 3 49353191 49353191 single base substitution G A upstream_gene_variant MELA-AU 3 49353435 49353435 single base substitution G A downstream_gene_variant MELA-AU 3 49353435 49353435 single base substitution G A intron_variant MELA-AU 3 49353435 49353435 single base substitution G A upstream_gene_variant MELA-AU 3 49353803 49353803 single base substitution C T downstream_gene_variant MELA-AU 3 49353803 49353803 single base substitution C T intron_variant MELA-AU 3 49353803 49353803 single base substitution C T upstream_gene_variant MELA-AU 3 49354632 49354632 single base substitution G C exon_variant MELA-AU 3 49354632 49354632 single base substitution G C intron_variant MELA-AU 3 49354632 49354632 single base substitution G C synonymous_variant T325T 975C>G MELA-AU 3 49354632 49354632 single base substitution G C upstream_gene_variant MELA-AU 3 49354640 49354640 single base substitution C T exon_variant MELA-AU 3 49354640 49354640 single base substitution C T intron_variant MELA-AU 3 49354640 49354640 single base substitution C T missense_variant E323K 967G>A MELA-AU 3 49354640 49354640 single base substitution C T upstream_gene_variant MELA-AU 3 49354817 49354817 single base substitution C T exon_variant MELA-AU 3 49354817 49354817 single base substitution C T intron_variant MELA-AU 3 49354817 49354817 single base substitution C T missense_variant E264K 790G>A MELA-AU 3 49354817 49354817 single base substitution C T upstream_gene_variant MELA-AU 3 49355231 49355231 single base substitution C T intron_variant MELA-AU 3 49355231 49355231 single base substitution C T upstream_gene_variant MELA-AU 3 49356016 49356016 single base substitution G A exon_variant MELA-AU 3 49356016 49356016 single base substitution G A intron_variant MELA-AU 3 49356016 49356016 single base substitution G A upstream_gene_variant MELA-AU 3 49356458 49356458 single base substitution A T intron_variant MELA-AU 3 49356458 49356458 single base substitution A T upstream_gene_variant MELA-AU 3 49356521 49356521 single base substitution G A intron_variant MELA-AU 3 49356521 49356521 single base substitution G A upstream_gene_variant MELA-AU 3 49356613 49356613 single base substitution T G intron_variant MELA-AU 3 49356613 49356613 single base substitution T G upstream_gene_variant MELA-AU 3 49357715 49357715 single base substitution A G downstream_gene_variant MELA-AU 3 49357715 49357715 single base substitution A G intron_variant MELA-AU 3 49357715 49357715 single base substitution A G upstream_gene_variant MELA-AU 3 49358182 49358182 single base substitution C T downstream_gene_variant MELA-AU 3 49358182 49358182 single base substitution C T intron_variant MELA-AU 3 49358182 49358182 single base substitution C T upstream_gene_variant MELA-AU 3 49358339 49358339 single base substitution A G downstream_gene_variant MELA-AU 3 49358339 49358339 single base substitution A G intron_variant MELA-AU 3 49358339 49358339 single base substitution A G upstream_gene_variant MELA-AU 3 49358480 49358480 single base substitution G A downstream_gene_variant MELA-AU 3 49358480 49358480 single base substitution G A intron_variant MELA-AU 3 49358480 49358480 single base substitution G A upstream_gene_variant MELA-AU 3 49358680 49358680 single base substitution G A downstream_gene_variant MELA-AU 3 49358680 49358680 single base substitution G A intron_variant MELA-AU 3 49358680 49358680 single base substitution G A upstream_gene_variant MELA-AU 3 49359213 49359213 single base substitution G A downstream_gene_variant MELA-AU 3 49359213 49359213 single base substitution G A intron_variant MELA-AU 3 49359213 49359213 single base substitution G A upstream_gene_variant MELA-AU 3 49359354 49359354 single base substitution G A downstream_gene_variant MELA-AU 3 49359354 49359354 single base substitution G A intron_variant MELA-AU 3 49359354 49359354 single base substitution G A upstream_gene_variant MELA-AU 3 49359429 49359429 deletion of <=200bp A - downstream_gene_variant MELA-AU 3 49359429 49359429 deletion of <=200bp A - intron_variant MELA-AU 3 49359429 49359429 deletion of <=200bp A - upstream_gene_variant MELA-AU 3 49359836 49359836 single base substitution C T downstream_gene_variant MELA-AU 3 49359836 49359836 single base substitution C T intron_variant MELA-AU 3 49359836 49359836 single base substitution C T upstream_gene_variant MELA-AU 3 49360222 49360222 insertion of <=200bp - A downstream_gene_variant MELA-AU 3 49360222 49360222 insertion of <=200bp - A intron_variant MELA-AU 3 49360222 49360222 insertion of <=200bp - A upstream_gene_variant MELA-AU 3 49360292 49360292 single base substitution G A downstream_gene_variant MELA-AU 3 49360292 49360292 single base substitution G A intron_variant MELA-AU 3 49360292 49360292 single base substitution G A upstream_gene_variant MELA-AU 3 49360423 49360423 single base substitution G A downstream_gene_variant MELA-AU 3 49360423 49360423 single base substitution G A intron_variant MELA-AU 3 49360423 49360423 single base substitution G A upstream_gene_variant MELA-AU 3 49360500 49360500 single base substitution A G downstream_gene_variant MELA-AU 3 49360500 49360500 single base substitution A G intron_variant MELA-AU 3 49360500 49360500 single base substitution A G upstream_gene_variant MELA-AU 3 49360730 49360730 single base substitution A G downstream_gene_variant MELA-AU 3 49360730 49360730 single base substitution A G intron_variant MELA-AU 3 49360730 49360730 single base substitution A G upstream_gene_variant MELA-AU 3 49360906 49360906 single base substitution C T downstream_gene_variant MELA-AU 3 49360906 49360906 single base substitution C T intron_variant MELA-AU 3 49360906 49360906 single base substitution C T upstream_gene_variant MELA-AU 3 49360964 49360964 single base substitution G A downstream_gene_variant MELA-AU 3 49360964 49360964 single base substitution G A intron_variant MELA-AU 3 49360964 49360964 single base substitution G A upstream_gene_variant MELA-AU 3 49361057 49361057 single base substitution G A downstream_gene_variant MELA-AU 3 49361057 49361057 single base substitution G A intron_variant MELA-AU 3 49361057 49361057 single base substitution G A upstream_gene_variant MELA-AU 3 49361244 49361244 single base substitution G A downstream_gene_variant MELA-AU 3 49361244 49361244 single base substitution G A intron_variant MELA-AU 3 49361620 49361620 single base substitution C T downstream_gene_variant MELA-AU 3 49361620 49361620 single base substitution C T intron_variant MELA-AU 3 49362209 49362209 single base substitution G A intron_variant MELA-AU 3 49362562 49362562 single base substitution T A intron_variant MELA-AU 3 49362617 49362617 single base substitution T C intron_variant MELA-AU 3 49363037 49363037 single base substitution G A intron_variant MELA-AU 3 49363522 49363522 single base substitution G A intron_variant MELA-AU 3 49364198 49364198 single base substitution G A intron_variant MELA-AU 3 49364346 49364347 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 49364455 49364455 single base substitution G A intron_variant MELA-AU 3 49364477 49364477 single base substitution T A intron_variant MELA-AU 3 49364747 49364747 single base substitution G A intron_variant MELA-AU 3 49365259 49365259 single base substitution G A intron_variant MELA-AU 3 49365493 49365493 single base substitution G A intron_variant MELA-AU 3 49366165 49366165 single base substitution T A intron_variant MELA-AU 3 49366297 49366297 single base substitution A G intron_variant MELA-AU 3 49366380 49366380 single base substitution A T intron_variant MELA-AU 3 49366505 49366505 single base substitution G A intron_variant MELA-AU 3 49367020 49367020 single base substitution G A intron_variant MELA-AU 3 49367078 49367078 single base substitution C T intron_variant MELA-AU 3 49367921 49367921 single base substitution C T intron_variant MELA-AU 3 49368103 49368103 single base substitution G A intron_variant MELA-AU 3 49368679 49368679 single base substitution G A intron_variant MELA-AU 3 49369504 49369504 single base substitution G A intron_variant MELA-AU 3 49370073 49370073 single base substitution G A intron_variant MELA-AU 3 49370840 49370840 single base substitution A C intron_variant MELA-AU 3 49372313 49372313 single base substitution C A intron_variant MELA-AU 3 49372784 49372784 single base substitution G A intron_variant MELA-AU 3 49373321 49373321 single base substitution G A intron_variant MELA-AU 3 49374091 49374091 single base substitution G A intron_variant MELA-AU 3 49374099 49374099 single base substitution G A intron_variant MELA-AU 3 49374225 49374225 single base substitution G A intron_variant MELA-AU 3 49374405 49374405 single base substitution G A intron_variant MELA-AU 3 49374487 49374487 single base substitution G A intron_variant MELA-AU 3 49375868 49375868 single base substitution G A intron_variant MELA-AU 3 49375889 49375889 single base substitution C T intron_variant MELA-AU 3 49376025 49376025 single base substitution G A intron_variant MELA-AU 3 49376763 49376763 single base substitution G A intron_variant MELA-AU 3 49377447 49377448 multiple base substitution (>=2bp and <=200bp) CC AT exon_variant MELA-AU 3 49377447 49377448 multiple base substitution (>=2bp and <=200bp) CC AT intron_variant MELA-AU 3 49377447 49377448 multiple base substitution (>=2bp and <=200bp) CC AT missense_variant G4I 10GG>AT MELA-AU 3 49377599 49377599 single base substitution T A intron_variant MELA-AU 3 49377599 49377599 single base substitution T A upstream_gene_variant MELA-AU 3 49377697 49377697 single base substitution C T intron_variant MELA-AU 3 49377697 49377697 single base substitution C T upstream_gene_variant MELA-AU 3 49378308 49378308 single base substitution G A upstream_gene_variant MELA-AU 3 49379314 49379314 single base substitution C T upstream_gene_variant MELA-AU 3 49379466 49379466 single base substitution G A upstream_gene_variant MELA-AU 3 49379542 49379542 single base substitution G A upstream_gene_variant MELA-AU 3 49379793 49379793 single base substitution G A upstream_gene_variant MELA-AU 3 49380092 49380092 single base substitution G A upstream_gene_variant MELA-AU 3 49380569 49380569 single base substitution C T upstream_gene_variant MELA-AU 3 49381087 49381087 single base substitution A G upstream_gene_variant MELA-AU 3 49381187 49381187 single base substitution T A upstream_gene_variant MELA-AU 3 49381578 49381578 single base substitution G A upstream_gene_variant MELA-AU 3 49381902 49381902 single base substitution G A upstream_gene_variant MELA-AU 3 49382443 49382443 single base substitution G A upstream_gene_variant MELA-AU 3 49382444 49382444 single base substitution G A upstream_gene_variant MELA-AU 3 49382686 49382686 single base substitution C T upstream_gene_variant MELA-AU 3 49382793 49382793 single base substitution C T upstream_gene_variant MELA-AU 3 49382830 49382830 single base substitution C T upstream_gene_variant MELA-AU 3 49382967 49382967 single base substitution G A upstream_gene_variant ORCA-IN 3 49316246 49316246 single base substitution C A intron_variant ORCA-IN 3 49316246 49316246 single base substitution C A splice_donor_variant ORCA-IN 3 49323726 49323726 single base substitution C T exon_variant ORCA-IN 3 49323726 49323726 single base substitution C T missense_variant E407K 1219G>A ORCA-IN 3 49323726 49323726 single base substitution C T missense_variant E622K 1864G>A ORCA-IN 3 49323726 49323726 single base substitution C T missense_variant E669K 2005G>A ORCA-IN 3 49342275 49342275 single base substitution C T downstream_gene_variant ORCA-IN 3 49342275 49342275 single base substitution C T intron_variant ORCA-IN 3 49348133 49348133 single base substitution G T downstream_gene_variant ORCA-IN 3 49348133 49348133 single base substitution G T exon_variant ORCA-IN 3 49348133 49348133 single base substitution G T intron_variant ORCA-IN 3 49348133 49348133 single base substitution G T missense_variant P245T 733C>A ORCA-IN 3 49348133 49348133 single base substitution G T missense_variant P292T 874C>A ORCA-IN 3 49348133 49348133 single base substitution G T missense_variant P48T 142C>A OV-AU 3 49310371 49310371 single base substitution A T downstream_gene_variant OV-AU 3 49320988 49320988 single base substitution C A downstream_gene_variant OV-AU 3 49320988 49320988 single base substitution C A intron_variant OV-AU 3 49320988 49320988 single base substitution C A upstream_gene_variant OV-AU 3 49321690 49321690 single base substitution A C downstream_gene_variant OV-AU 3 49321690 49321690 single base substitution A C intron_variant OV-AU 3 49335545 49335545 single base substitution G C downstream_gene_variant OV-AU 3 49335545 49335545 single base substitution G C intron_variant OV-AU 3 49335545 49335545 single base substitution G C upstream_gene_variant OV-AU 3 49341274 49341274 single base substitution C T downstream_gene_variant OV-AU 3 49341274 49341274 single base substitution C T intron_variant OV-AU 3 49346270 49346270 single base substitution G C downstream_gene_variant OV-AU 3 49346270 49346270 single base substitution G C intron_variant OV-AU 3 49349375 49349375 single base substitution G A 3_prime_UTR_variant OV-AU 3 49349375 49349375 single base substitution G A downstream_gene_variant OV-AU 3 49349375 49349375 single base substitution G A exon_variant OV-AU 3 49349375 49349375 single base substitution G A intron_variant OV-AU 3 49349375 49349375 single base substitution G A upstream_gene_variant OV-AU 3 49355044 49355044 single base substitution G A intron_variant OV-AU 3 49355044 49355044 single base substitution G A upstream_gene_variant OV-AU 3 49356872 49356872 single base substitution C T intron_variant OV-AU 3 49356872 49356872 single base substitution C T upstream_gene_variant OV-AU 3 49363177 49363177 single base substitution G A exon_variant OV-AU 3 49363177 49363177 single base substitution G A intron_variant OV-AU 3 49363177 49363177 single base substitution G A synonymous_variant C154C 462C>T OV-AU 3 49371594 49371594 single base substitution T C intron_variant OV-AU 3 49377639 49377639 single base substitution A G intron_variant OV-AU 3 49377639 49377639 single base substitution A G upstream_gene_variant OV-AU 3 49379813 49379813 single base substitution G A upstream_gene_variant OV-AU 3 49380310 49380310 single base substitution C G upstream_gene_variant OV-AU 3 49382751 49382751 single base substitution C T upstream_gene_variant OV-US 3 49362402 49362402 single base substitution T G exon_variant OV-US 3 49362402 49362402 single base substitution T G intron_variant OV-US 3 49362402 49362402 single base substitution T G missense_variant K186N 558A>C PACA-AU 3 49314105 49314105 single base substitution T A downstream_gene_variant PACA-AU 3 49318906 49318906 insertion of <=200bp - TG downstream_gene_variant PACA-AU 3 49318906 49318906 insertion of <=200bp - TG intron_variant PACA-AU 3 49318906 49318906 insertion of <=200bp - TG upstream_gene_variant PACA-AU 3 49322897 49322897 single base substitution A C intron_variant PACA-AU 3 49329020 49329020 single base substitution A G intron_variant PACA-AU 3 49329340 49329340 single base substitution G A intron_variant PACA-AU 3 49330424 49330424 single base substitution C G downstream_gene_variant PACA-AU 3 49330424 49330424 single base substitution C G intron_variant PACA-AU 3 49330902 49330902 single base substitution C A downstream_gene_variant PACA-AU 3 49330902 49330902 single base substitution C A intron_variant PACA-AU 3 49332657 49332657 single base substitution G A downstream_gene_variant PACA-AU 3 49332657 49332657 single base substitution G A intron_variant PACA-AU 3 49332657 49332657 single base substitution G A upstream_gene_variant PACA-AU 3 49333135 49333136 deletion of <=200bp GC - downstream_gene_variant PACA-AU 3 49333135 49333136 deletion of <=200bp GC - intron_variant PACA-AU 3 49333135 49333136 deletion of <=200bp GC - upstream_gene_variant PACA-AU 3 49333204 49333204 single base substitution C G downstream_gene_variant PACA-AU 3 49333204 49333204 single base substitution C G intron_variant PACA-AU 3 49333204 49333204 single base substitution C G upstream_gene_variant PACA-AU 3 49338670 49338670 single base substitution G A downstream_gene_variant PACA-AU 3 49338670 49338670 single base substitution G A intron_variant PACA-AU 3 49338946 49338946 single base substitution C T downstream_gene_variant PACA-AU 3 49338946 49338946 single base substitution C T intron_variant PACA-AU 3 49344739 49344739 single base substitution G T downstream_gene_variant PACA-AU 3 49344739 49344739 single base substitution G T intron_variant PACA-AU 3 49346275 49346275 single base substitution G C downstream_gene_variant PACA-AU 3 49346275 49346275 single base substitution G C intron_variant PACA-AU 3 49347145 49347145 single base substitution C T downstream_gene_variant PACA-AU 3 49347145 49347145 single base substitution C T intron_variant PACA-AU 3 49349417 49349417 insertion of <=200bp - CC 3_prime_UTR_variant PACA-AU 3 49349417 49349417 insertion of <=200bp - CC downstream_gene_variant PACA-AU 3 49349417 49349417 insertion of <=200bp - CC exon_variant PACA-AU 3 49349417 49349417 insertion of <=200bp - CC intron_variant PACA-AU 3 49349417 49349417 insertion of <=200bp - CC upstream_gene_variant PACA-AU 3 49350329 49350329 single base substitution T C downstream_gene_variant PACA-AU 3 49350329 49350329 single base substitution T C intron_variant PACA-AU 3 49350329 49350329 single base substitution T C upstream_gene_variant PACA-AU 3 49358232 49358232 deletion of <=200bp T - downstream_gene_variant PACA-AU 3 49358232 49358232 deletion of <=200bp T - intron_variant PACA-AU 3 49358232 49358232 deletion of <=200bp T - upstream_gene_variant PACA-AU 3 49365066 49365066 single base substitution C T intron_variant PACA-AU 3 49365820 49365820 single base substitution A G intron_variant PACA-AU 3 49368151 49368151 single base substitution T C intron_variant PACA-AU 3 49368846 49368846 single base substitution G T intron_variant PACA-AU 3 49377610 49377610 single base substitution C G intron_variant PACA-AU 3 49377610 49377610 single base substitution C G upstream_gene_variant PACA-AU 3 49381911 49381911 deletion of <=200bp G - upstream_gene_variant PACA-CA 3 49312704 49312704 single base substitution G A downstream_gene_variant PACA-CA 3 49316535 49316535 single base substitution C A exon_variant PACA-CA 3 49316535 49316535 single base substitution C A intron_variant PACA-CA 3 49318225 49318225 single base substitution C T downstream_gene_variant PACA-CA 3 49318225 49318225 single base substitution C T exon_variant PACA-CA 3 49318225 49318225 single base substitution C T missense_variant D604N 1810G>A PACA-CA 3 49318225 49318225 single base substitution C T missense_variant D819N 2455G>A PACA-CA 3 49318225 49318225 single base substitution C T missense_variant D866N 2596G>A PACA-CA 3 49318225 49318225 single base substitution C T upstream_gene_variant PACA-CA 3 49318961 49318966 deletion of <=200bp ACACAT - downstream_gene_variant PACA-CA 3 49318961 49318966 deletion of <=200bp ACACAT - intron_variant PACA-CA 3 49318961 49318966 deletion of <=200bp ACACAT - upstream_gene_variant PACA-CA 3 49318984 49318984 single base substitution C T downstream_gene_variant PACA-CA 3 49318984 49318984 single base substitution C T intron_variant PACA-CA 3 49318984 49318984 single base substitution C T upstream_gene_variant PACA-CA 3 49319469 49319469 single base substitution A C downstream_gene_variant PACA-CA 3 49319469 49319469 single base substitution A C intron_variant PACA-CA 3 49319469 49319469 single base substitution A C upstream_gene_variant PACA-CA 3 49327211 49327211 single base substitution G A intron_variant PACA-CA 3 49329309 49329309 single base substitution C T intron_variant PACA-CA 3 49336871 49336871 single base substitution G A downstream_gene_variant PACA-CA 3 49336871 49336871 single base substitution G A intron_variant PACA-CA 3 49345761 49345761 single base substitution A G downstream_gene_variant PACA-CA 3 49345761 49345761 single base substitution A G intron_variant PACA-CA 3 49353635 49353635 deletion of <=200bp A - downstream_gene_variant PACA-CA 3 49353635 49353635 deletion of <=200bp A - intron_variant PACA-CA 3 49353635 49353635 deletion of <=200bp A - upstream_gene_variant PACA-CA 3 49357673 49357673 single base substitution G T downstream_gene_variant PACA-CA 3 49357673 49357673 single base substitution G T intron_variant PACA-CA 3 49357673 49357673 single base substitution G T upstream_gene_variant PACA-CA 3 49358019 49358019 single base substitution A G downstream_gene_variant PACA-CA 3 49358019 49358019 single base substitution A G intron_variant PACA-CA 3 49358019 49358019 single base substitution A G upstream_gene_variant PACA-CA 3 49359555 49359555 single base substitution C T downstream_gene_variant PACA-CA 3 49359555 49359555 single base substitution C T intron_variant PACA-CA 3 49359555 49359555 single base substitution C T upstream_gene_variant PACA-CA 3 49363108 49363108 single base substitution A T intron_variant PACA-CA 3 49364641 49364641 single base substitution T C intron_variant PACA-CA 3 49365336 49365336 single base substitution A C intron_variant PACA-CA 3 49366154 49366154 single base substitution A G intron_variant PACA-CA 3 49368366 49368366 single base substitution G A intron_variant PACA-CA 3 49374725 49374725 single base substitution C T intron_variant PACA-CA 3 49377924 49377924 single base substitution A C exon_variant PACA-CA 3 49377924 49377924 single base substitution A C upstream_gene_variant PACA-CA 3 49381086 49381086 insertion of <=200bp - A upstream_gene_variant PAEN-AU 3 49318964 49318964 single base substitution C T downstream_gene_variant PAEN-AU 3 49318964 49318964 single base substitution C T intron_variant PAEN-AU 3 49318964 49318964 single base substitution C T upstream_gene_variant PAEN-IT 3 49367046 49367046 single base substitution C T intron_variant PBCA-DE 3 49314439 49314439 single base substitution G A downstream_gene_variant PBCA-DE 3 49314507 49314507 single base substitution A C downstream_gene_variant PBCA-DE 3 49316899 49316899 single base substitution T A intron_variant PBCA-DE 3 49316899 49316899 single base substitution T A upstream_gene_variant PBCA-DE 3 49320095 49320095 single base substitution T A downstream_gene_variant PBCA-DE 3 49320095 49320095 single base substitution T A intron_variant PBCA-DE 3 49320095 49320095 single base substitution T A upstream_gene_variant PBCA-DE 3 49328880 49328880 single base substitution C T intron_variant PBCA-DE 3 49334004 49334004 single base substitution C T downstream_gene_variant PBCA-DE 3 49334004 49334004 single base substitution C T intron_variant PBCA-DE 3 49334004 49334004 single base substitution C T upstream_gene_variant PBCA-DE 3 49340371 49340371 single base substitution C T downstream_gene_variant PBCA-DE 3 49340371 49340371 single base substitution C T intron_variant PBCA-DE 3 49341456 49341456 single base substitution G A downstream_gene_variant PBCA-DE 3 49341456 49341456 single base substitution G A intron_variant PBCA-DE 3 49355414 49355414 single base substitution A G intron_variant PBCA-DE 3 49355414 49355414 single base substitution A G upstream_gene_variant PBCA-DE 3 49369552 49369552 insertion of <=200bp - A intron_variant PBCA-DE 3 49382445 49382445 insertion of <=200bp - A upstream_gene_variant PRAD-CA 3 49311205 49311205 single base substitution C T downstream_gene_variant PRAD-CA 3 49318926 49318926 single base substitution C T downstream_gene_variant PRAD-CA 3 49318926 49318926 single base substitution C T intron_variant PRAD-CA 3 49318926 49318926 single base substitution C T upstream_gene_variant PRAD-CA 3 49318928 49318928 single base substitution C T downstream_gene_variant PRAD-CA 3 49318928 49318928 single base substitution C T intron_variant PRAD-CA 3 49318928 49318928 single base substitution C T upstream_gene_variant PRAD-CA 3 49340717 49340717 single base substitution T C downstream_gene_variant PRAD-CA 3 49340717 49340717 single base substitution T C intron_variant PRAD-CA 3 49343714 49343714 single base substitution C A intron_variant PRAD-CA 3 49350330 49350330 single base substitution C T downstream_gene_variant PRAD-CA 3 49350330 49350330 single base substitution C T intron_variant PRAD-CA 3 49350330 49350330 single base substitution C T upstream_gene_variant PRAD-CA 3 49369160 49369160 single base substitution T C intron_variant PRAD-UK 3 49327534 49327534 single base substitution C A intron_variant PRAD-UK 3 49327547 49327547 single base substitution C A intron_variant PRAD-UK 3 49365581 49365581 insertion of <=200bp - A intron_variant PRAD-UK 3 49371157 49371157 single base substitution C G intron_variant PRAD-UK 3 49377710 49377710 single base substitution C T intron_variant PRAD-UK 3 49377710 49377710 single base substitution C T upstream_gene_variant PRAD-US 3 49313859 49313859 single base substitution C A downstream_gene_variant PRAD-US 3 49314298 49314298 single base substitution T C downstream_gene_variant RECA-EU 3 49359156 49359156 single base substitution G A downstream_gene_variant RECA-EU 3 49359156 49359156 single base substitution G A intron_variant RECA-EU 3 49359156 49359156 single base substitution G A upstream_gene_variant RECA-EU 3 49370033 49370033 single base substitution G A intron_variant RECA-EU 3 49375376 49375376 single base substitution G A intron_variant RECA-EU 3 49381591 49381591 single base substitution G T upstream_gene_variant SKCA-BR 3 49311589 49311589 single base substitution G T downstream_gene_variant SKCA-BR 3 49312248 49312248 single base substitution C T downstream_gene_variant SKCA-BR 3 49312955 49312955 insertion of <=200bp - TG downstream_gene_variant SKCA-BR 3 49314960 49314960 single base substitution G A downstream_gene_variant SKCA-BR 3 49316890 49316890 single base substitution A T intron_variant SKCA-BR 3 49316890 49316890 single base substitution A T upstream_gene_variant SKCA-BR 3 49317771 49317771 single base substitution G A downstream_gene_variant SKCA-BR 3 49317771 49317771 single base substitution G A intron_variant SKCA-BR 3 49317771 49317771 single base substitution G A upstream_gene_variant SKCA-BR 3 49319022 49319022 single base substitution C T downstream_gene_variant SKCA-BR 3 49319022 49319022 single base substitution C T intron_variant SKCA-BR 3 49319022 49319022 single base substitution C T upstream_gene_variant SKCA-BR 3 49320268 49320268 single base substitution G C downstream_gene_variant SKCA-BR 3 49320268 49320268 single base substitution G C intron_variant SKCA-BR 3 49320268 49320268 single base substitution G C upstream_gene_variant SKCA-BR 3 49321009 49321009 single base substitution G A downstream_gene_variant SKCA-BR 3 49321009 49321009 single base substitution G A intron_variant SKCA-BR 3 49321009 49321009 single base substitution G A upstream_gene_variant SKCA-BR 3 49321428 49321428 single base substitution G A downstream_gene_variant SKCA-BR 3 49321428 49321428 single base substitution G A exon_variant SKCA-BR 3 49321428 49321428 single base substitution G A synonymous_variant F582F 1746C>T SKCA-BR 3 49321428 49321428 single base substitution G A synonymous_variant F797F 2391C>T SKCA-BR 3 49321428 49321428 single base substitution G A synonymous_variant F844F 2532C>T SKCA-BR 3 49321428 49321428 single base substitution G A upstream_gene_variant SKCA-BR 3 49321512 49321512 single base substitution G A downstream_gene_variant SKCA-BR 3 49321512 49321512 single base substitution G A exon_variant SKCA-BR 3 49321512 49321512 single base substitution G A synonymous_variant S554S 1662C>T SKCA-BR 3 49321512 49321512 single base substitution G A synonymous_variant S769S 2307C>T SKCA-BR 3 49321512 49321512 single base substitution G A synonymous_variant S816S 2448C>T SKCA-BR 3 49321512 49321512 single base substitution G A upstream_gene_variant SKCA-BR 3 49322507 49322507 single base substitution C T intron_variant SKCA-BR 3 49328197 49328197 single base substitution C T intron_variant SKCA-BR 3 49328833 49328833 single base substitution A C intron_variant SKCA-BR 3 49329562 49329562 single base substitution T C intron_variant SKCA-BR 3 49331178 49331178 single base substitution G A downstream_gene_variant SKCA-BR 3 49331178 49331178 single base substitution G A intron_variant SKCA-BR 3 49331178 49331178 single base substitution G A upstream_gene_variant SKCA-BR 3 49331493 49331493 single base substitution C T downstream_gene_variant SKCA-BR 3 49331493 49331493 single base substitution C T intron_variant SKCA-BR 3 49331493 49331493 single base substitution C T upstream_gene_variant SKCA-BR 3 49335707 49335707 single base substitution C T downstream_gene_variant SKCA-BR 3 49335707 49335707 single base substitution C T intron_variant SKCA-BR 3 49335707 49335707 single base substitution C T upstream_gene_variant SKCA-BR 3 49336232 49336232 single base substitution T C downstream_gene_variant SKCA-BR 3 49336232 49336232 single base substitution T C intron_variant SKCA-BR 3 49337544 49337544 single base substitution G A downstream_gene_variant SKCA-BR 3 49337544 49337544 single base substitution G A intron_variant SKCA-BR 3 49339125 49339125 single base substitution A T downstream_gene_variant SKCA-BR 3 49339125 49339125 single base substitution A T intron_variant SKCA-BR 3 49342739 49342739 single base substitution C T downstream_gene_variant SKCA-BR 3 49342739 49342739 single base substitution C T intron_variant SKCA-BR 3 49342763 49342763 single base substitution A G downstream_gene_variant SKCA-BR 3 49342763 49342763 single base substitution A G intron_variant SKCA-BR 3 49342791 49342791 single base substitution G A downstream_gene_variant SKCA-BR 3 49342791 49342791 single base substitution G A intron_variant SKCA-BR 3 49342800 49342800 single base substitution A C downstream_gene_variant SKCA-BR 3 49342800 49342800 single base substitution A C intron_variant SKCA-BR 3 49343695 49343695 single base substitution G A intron_variant SKCA-BR 3 49346812 49346812 single base substitution A T downstream_gene_variant SKCA-BR 3 49346812 49346812 single base substitution A T intron_variant SKCA-BR 3 49347052 49347052 single base substitution C T downstream_gene_variant SKCA-BR 3 49347052 49347052 single base substitution C T intron_variant SKCA-BR 3 49349803 49349803 single base substitution T C downstream_gene_variant SKCA-BR 3 49349803 49349803 single base substitution T C exon_variant SKCA-BR 3 49349803 49349803 single base substitution T C intron_variant SKCA-BR 3 49349803 49349803 single base substitution T C synonymous_variant G313G 939A>G SKCA-BR 3 49349803 49349803 single base substitution T C upstream_gene_variant SKCA-BR 3 49349848 49349848 single base substitution G A downstream_gene_variant SKCA-BR 3 49349848 49349848 single base substitution G A exon_variant SKCA-BR 3 49349848 49349848 single base substitution G A intron_variant SKCA-BR 3 49349848 49349848 single base substitution G A synonymous_variant S298S 894C>T SKCA-BR 3 49349848 49349848 single base substitution G A upstream_gene_variant SKCA-BR 3 49354270 49354270 single base substitution G A 3_prime_UTR_variant SKCA-BR 3 49354270 49354270 single base substitution G A downstream_gene_variant SKCA-BR 3 49354270 49354270 single base substitution G A intron_variant SKCA-BR 3 49354270 49354270 single base substitution G A upstream_gene_variant SKCA-BR 3 49360418 49360418 single base substitution G T downstream_gene_variant SKCA-BR 3 49360418 49360418 single base substitution G T intron_variant SKCA-BR 3 49360418 49360418 single base substitution G T upstream_gene_variant SKCA-BR 3 49360487 49360487 single base substitution G A downstream_gene_variant SKCA-BR 3 49360487 49360487 single base substitution G A intron_variant SKCA-BR 3 49360487 49360487 single base substitution G A upstream_gene_variant SKCA-BR 3 49367075 49367075 single base substitution C T intron_variant SKCA-BR 3 49369480 49369480 single base substitution T G intron_variant SKCA-BR 3 49369882 49369882 single base substitution C T intron_variant SKCA-BR 3 49370236 49370236 single base substitution G A intron_variant SKCA-BR 3 49378832 49378832 single base substitution G T upstream_gene_variant SKCA-BR 3 49378942 49378944 deletion of <=200bp TAA - upstream_gene_variant SKCM-US 3 49314045 49314045 single base substitution C T downstream_gene_variant SKCM-US 3 49314265 49314265 single base substitution G A downstream_gene_variant SKCM-US 3 49315767 49315767 single base substitution C G 3_prime_UTR_variant SKCM-US 3 49315767 49315767 single base substitution C G exon_variant SKCM-US 3 49315767 49315767 single base substitution C G missense_variant G904R 2710G>C SKCM-US 3 49315767 49315767 single base substitution C G missense_variant G951R 2851G>C SKCM-US 3 49321428 49321428 single base substitution G A downstream_gene_variant SKCM-US 3 49321428 49321428 single base substitution G A exon_variant SKCM-US 3 49321428 49321428 single base substitution G A synonymous_variant F582F 1746C>T SKCM-US 3 49321428 49321428 single base substitution G A synonymous_variant F797F 2391C>T SKCM-US 3 49321428 49321428 single base substitution G A synonymous_variant F844F 2532C>T SKCM-US 3 49321428 49321428 single base substitution G A upstream_gene_variant SKCM-US 3 49321500 49321500 single base substitution G A downstream_gene_variant SKCM-US 3 49321500 49321500 single base substitution G A exon_variant SKCM-US 3 49321500 49321500 single base substitution G A synonymous_variant I558I 1674C>T SKCM-US 3 49321500 49321500 single base substitution G A synonymous_variant I773I 2319C>T SKCM-US 3 49321500 49321500 single base substitution G A synonymous_variant I820I 2460C>T SKCM-US 3 49321500 49321500 single base substitution G A upstream_gene_variant SKCM-US 3 49323590 49323590 single base substitution G A exon_variant SKCM-US 3 49323590 49323590 single base substitution G A missense_variant S452F 1355C>T SKCM-US 3 49323590 49323590 single base substitution G A missense_variant S667F 2000C>T SKCM-US 3 49323590 49323590 single base substitution G A missense_variant S714F 2141C>T SKCM-US 3 49323652 49323652 single base substitution G A exon_variant SKCM-US 3 49323652 49323652 single base substitution G A synonymous_variant T431T 1293C>T SKCM-US 3 49323652 49323652 single base substitution G A synonymous_variant T646T 1938C>T SKCM-US 3 49323652 49323652 single base substitution G A synonymous_variant T693T 2079C>T SKCM-US 3 49323748 49323748 single base substitution C T exon_variant SKCM-US 3 49323748 49323748 single base substitution C T synonymous_variant E399E 1197G>A SKCM-US 3 49323748 49323748 single base substitution C T synonymous_variant E614E 1842G>A SKCM-US 3 49323748 49323748 single base substitution C T synonymous_variant E661E 1983G>A SKCM-US 3 49339873 49339873 single base substitution G A downstream_gene_variant SKCM-US 3 49339873 49339873 single base substitution G A exon_variant SKCM-US 3 49339873 49339873 single base substitution G A missense_variant R167W 499C>T SKCM-US 3 49339873 49339873 single base substitution G A missense_variant R364W 1090C>T SKCM-US 3 49339873 49339873 single base substitution G A missense_variant R411W 1231C>T SKCM-US 3 49339953 49339953 single base substitution G A downstream_gene_variant SKCM-US 3 49339953 49339953 single base substitution G A exon_variant SKCM-US 3 49339953 49339953 single base substitution G A missense_variant P140L 419C>T SKCM-US 3 49339953 49339953 single base substitution G A missense_variant P337L 1010C>T SKCM-US 3 49339953 49339953 single base substitution G A missense_variant P384L 1151C>T SKCM-US 3 49348150 49348150 single base substitution G A downstream_gene_variant SKCM-US 3 49348150 49348150 single base substitution G A exon_variant SKCM-US 3 49348150 49348150 single base substitution G A intron_variant SKCM-US 3 49348150 49348150 single base substitution G A missense_variant S239L 716C>T SKCM-US 3 49348150 49348150 single base substitution G A missense_variant S286L 857C>T SKCM-US 3 49348150 49348150 single base substitution G A missense_variant S42L 125C>T SKCM-US 3 49362169 49362169 single base substitution C T exon_variant SKCM-US 3 49362169 49362169 single base substitution C T intron_variant SKCM-US 3 49362169 49362169 single base substitution C T missense_variant D221N 661G>A SKCM-US 3 49362330 49362330 single base substitution A C exon_variant SKCM-US 3 49362330 49362330 single base substitution A C intron_variant SKCM-US 3 49362330 49362330 single base substitution A C synonymous_variant G210G 630T>G STAD-US 3 49314258 49314258 deletion of <=200bp T - downstream_gene_variant STAD-US 3 49318216 49318216 single base substitution C T downstream_gene_variant STAD-US 3 49318216 49318216 single base substitution C T exon_variant STAD-US 3 49318216 49318216 single base substitution C T missense_variant A607T 1819G>A STAD-US 3 49318216 49318216 single base substitution C T missense_variant A822T 2464G>A STAD-US 3 49318216 49318216 single base substitution C T missense_variant A869T 2605G>A STAD-US 3 49318216 49318216 single base substitution C T upstream_gene_variant STAD-US 3 49321537 49321537 single base substitution G A downstream_gene_variant STAD-US 3 49321537 49321537 single base substitution G A exon_variant STAD-US 3 49321537 49321537 single base substitution G A missense_variant A546V 1637C>T STAD-US 3 49321537 49321537 single base substitution G A missense_variant A761V 2282C>T STAD-US 3 49321537 49321537 single base substitution G A missense_variant A808V 2423C>T STAD-US 3 49321537 49321537 single base substitution G A upstream_gene_variant STAD-US 3 49321563 49321563 single base substitution A G downstream_gene_variant STAD-US 3 49321563 49321563 single base substitution A G exon_variant STAD-US 3 49321563 49321563 single base substitution A G synonymous_variant C537C 1611T>C STAD-US 3 49321563 49321563 single base substitution A G synonymous_variant C752C 2256T>C STAD-US 3 49321563 49321563 single base substitution A G synonymous_variant C799C 2397T>C STAD-US 3 49321563 49321563 single base substitution A G upstream_gene_variant STAD-US 3 49321951 49321951 single base substitution C A downstream_gene_variant STAD-US 3 49321951 49321951 single base substitution C A exon_variant STAD-US 3 49321951 49321951 single base substitution C A missense_variant D518Y 1552G>T STAD-US 3 49321951 49321951 single base substitution C A missense_variant D733Y 2197G>T STAD-US 3 49321951 49321951 single base substitution C A missense_variant D780Y 2338G>T STAD-US 3 49322015 49322015 single base substitution G T splice_region_variant STAD-US 3 49331880 49331880 single base substitution T G downstream_gene_variant STAD-US 3 49331880 49331880 single base substitution T G exon_variant STAD-US 3 49331880 49331880 single base substitution T G missense_variant T353P 1057A>C STAD-US 3 49331880 49331880 single base substitution T G missense_variant T568P 1702A>C STAD-US 3 49331880 49331880 single base substitution T G missense_variant T615P 1843A>C STAD-US 3 49331880 49331880 single base substitution T G upstream_gene_variant STAD-US 3 49332009 49332009 single base substitution C T downstream_gene_variant STAD-US 3 49332009 49332009 single base substitution C T exon_variant STAD-US 3 49332009 49332009 single base substitution C T missense_variant V310M 928G>A STAD-US 3 49332009 49332009 single base substitution C T missense_variant V525M 1573G>A STAD-US 3 49332009 49332009 single base substitution C T missense_variant V572M 1714G>A STAD-US 3 49332009 49332009 single base substitution C T upstream_gene_variant STAD-US 3 49336032 49336032 single base substitution C T downstream_gene_variant STAD-US 3 49336032 49336032 single base substitution C T exon_variant STAD-US 3 49336032 49336032 single base substitution C T missense_variant D255N 763G>A STAD-US 3 49336032 49336032 single base substitution C T missense_variant D470N 1408G>A STAD-US 3 49336032 49336032 single base substitution C T missense_variant D517N 1549G>A STAD-US 3 49336032 49336032 single base substitution C T upstream_gene_variant STAD-US 3 49339872 49339872 single base substitution C T downstream_gene_variant STAD-US 3 49339872 49339872 single base substitution C T exon_variant STAD-US 3 49339872 49339872 single base substitution C T missense_variant R167Q 500G>A STAD-US 3 49339872 49339872 single base substitution C T missense_variant R364Q 1091G>A STAD-US 3 49339872 49339872 single base substitution C T missense_variant R411Q 1232G>A STAD-US 3 49362429 49362429 single base substitution C T exon_variant STAD-US 3 49362429 49362429 single base substitution C T intron_variant STAD-US 3 49362429 49362429 single base substitution C T synonymous_variant A177A 531G>A STAD-US 3 49373016 49373016 single base substitution T C exon_variant STAD-US 3 49373016 49373016 single base substitution T C intron_variant STAD-US 3 49373016 49373016 single base substitution T C missense_variant S39G 115A>G THCA-SA 3 49313978 49313978 single base substitution C T downstream_gene_variant THCA-SA 3 49314960 49314960 single base substitution G A downstream_gene_variant THCA-SA 3 49343175 49343175 single base substitution G A downstream_gene_variant THCA-SA 3 49343175 49343175 single base substitution G A exon_variant THCA-SA 3 49343175 49343175 single base substitution G A synonymous_variant D123D 369C>T THCA-SA 3 49343175 49343175 single base substitution G A synonymous_variant D320D 960C>T THCA-SA 3 49343175 49343175 single base substitution G A synonymous_variant D367D 1101C>T THCA-SA 3 49362369 49362369 single base substitution C T exon_variant THCA-SA 3 49362369 49362369 single base substitution C T intron_variant THCA-SA 3 49362369 49362369 single base substitution C T synonymous_variant K197K 591G>A THCA-SA 3 49373003 49373003 single base substitution T C exon_variant THCA-SA 3 49373003 49373003 single base substitution T C intron_variant THCA-SA 3 49373003 49373003 single base substitution T C missense_variant K43R 128A>G UCEC-US 3 49313874 49313874 single base substitution T C downstream_gene_variant UCEC-US 3 49313875 49313875 single base substitution C T downstream_gene_variant UCEC-US 3 49316319 49316319 single base substitution C A exon_variant UCEC-US 3 49316319 49316319 single base substitution C A intron_variant UCEC-US 3 49316319 49316319 single base substitution C A missense_variant K840N 2520G>T UCEC-US 3 49316319 49316319 single base substitution C A missense_variant K887N 2661G>T UCEC-US 3 49321512 49321512 single base substitution G A downstream_gene_variant UCEC-US 3 49321512 49321512 single base substitution G A exon_variant UCEC-US 3 49321512 49321512 single base substitution G A synonymous_variant S554S 1662C>T UCEC-US 3 49321512 49321512 single base substitution G A synonymous_variant S769S 2307C>T UCEC-US 3 49321512 49321512 single base substitution G A synonymous_variant S816S 2448C>T UCEC-US 3 49321512 49321512 single base substitution G A upstream_gene_variant UCEC-US 3 49323660 49323660 single base substitution C T exon_variant UCEC-US 3 49323660 49323660 single base substitution C T missense_variant E429K 1285G>A UCEC-US 3 49323660 49323660 single base substitution C T missense_variant E644K 1930G>A UCEC-US 3 49323660 49323660 single base substitution C T missense_variant E691K 2071G>A UCEC-US 3 49331981 49331981 single base substitution G A downstream_gene_variant UCEC-US 3 49331981 49331981 single base substitution G A exon_variant UCEC-US 3 49331981 49331981 single base substitution G A missense_variant P319L 956C>T UCEC-US 3 49331981 49331981 single base substitution G A missense_variant P534L 1601C>T UCEC-US 3 49331981 49331981 single base substitution G A missense_variant P581L 1742C>T UCEC-US 3 49331981 49331981 single base substitution G A upstream_gene_variant UCEC-US 3 49337952 49337952 single base substitution C T downstream_gene_variant UCEC-US 3 49337952 49337952 single base substitution C T exon_variant UCEC-US 3 49337952 49337952 single base substitution C T intron_variant UCEC-US 3 49337952 49337952 single base substitution C T missense_variant R225Q 674G>A UCEC-US 3 49337952 49337952 single base substitution C T missense_variant R440Q 1319G>A UCEC-US 3 49337952 49337952 single base substitution C T missense_variant R487Q 1460G>A UCEC-US 3 49337971 49337971 single base substitution G A downstream_gene_variant UCEC-US 3 49337971 49337971 single base substitution G A exon_variant UCEC-US 3 49337971 49337971 single base substitution G A intron_variant UCEC-US 3 49337971 49337971 single base substitution G A synonymous_variant L219L 655C>T UCEC-US 3 49337971 49337971 single base substitution G A synonymous_variant L434L 1300C>T UCEC-US 3 49337971 49337971 single base substitution G A synonymous_variant L481L 1441C>T UCEC-US 3 49339923 49339923 single base substitution G T downstream_gene_variant UCEC-US 3 49339923 49339923 single base substitution G T exon_variant UCEC-US 3 49339923 49339923 single base substitution G T missense_variant S150Y 449C>A UCEC-US 3 49339923 49339923 single base substitution G T missense_variant S347Y 1040C>A UCEC-US 3 49339923 49339923 single base substitution G T missense_variant S394Y 1181C>A UCEC-US 3 49343264 49343264 single base substitution C T exon_variant UCEC-US 3 49343264 49343264 single base substitution C T missense_variant E291K 871G>A UCEC-US 3 49343264 49343264 single base substitution C T missense_variant E338K 1012G>A UCEC-US 3 49343264 49343264 single base substitution C T missense_variant E94K 280G>A UCEC-US 3 49348061 49348061 single base substitution C T downstream_gene_variant UCEC-US 3 49348061 49348061 single base substitution C T exon_variant UCEC-US 3 49348061 49348061 single base substitution C T intron_variant UCEC-US 3 49348061 49348061 single base substitution C T missense_variant A269T 805G>A UCEC-US 3 49348061 49348061 single base substitution C T missense_variant A316T 946G>A UCEC-US 3 49348061 49348061 single base substitution C T missense_variant A72T 214G>A UCEC-US 3 49348985 49348985 single base substitution A G downstream_gene_variant UCEC-US 3 49348985 49348985 single base substitution A G exon_variant UCEC-US 3 49348985 49348985 single base substitution A G intron_variant UCEC-US 3 49348985 49348985 single base substitution A G synonymous_variant T22T 66T>C UCEC-US 3 49348985 49348985 single base substitution A G synonymous_variant T266T 798T>C UCEC-US 3 49354742 49354742 single base substitution C A exon_variant UCEC-US 3 49354742 49354742 single base substitution C A intron_variant UCEC-US 3 49354742 49354742 single base substitution C A stop_gained E289* 865G>T UCEC-US 3 49354742 49354742 single base substitution C A upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand LUAD-B00416 COSM355457 c.2177A>G p.D726G Substitution - Missense 3:49286121-49286121 - LS180 COSM2849819 c.2465T>C p.V822A Substitution - Missense 3:49284062-49284062 - SH-0420 COSM5018722 c.2293A>C p.M765L Substitution - Missense 3:49284563-49284563 - TCGA-BP-4162-01 COSM1137056 c.125T>G p.F42C Substitution - Missense 3:49335573-49335573 - TCGA-EE-A17X-06 COSM3595267 c.857C>T p.S286L Substitution - Missense 3:49310717-49310717 - TCGA-FS-A4F5-06 COSM3595264 c.2141C>T p.S714F Substitution - Missense 3:49286157-49286157 - TCGA-AC-A2QI-01 COSM3824150 c.1675C>T p.R559W Substitution - Missense 3:49297886-49297886 - 1_PRE-TREATMENT COSM1720952 c.1263G>A p.K421K Substitution - coding silent 3:49302408-49302408 - 1_PRE-TREATMENT COSM1720951 c.1547C>T p.S516F Substitution - Missense 3:49298601-49298601 - C086 COSM5541490 c.758C>T p.S253F Substitution - Missense 3:49311592-49311592 - TCGA-BT-A3PH-01 COSM1309259 c.1150C>T p.P384S Substitution - Missense 3:49302521-49302521 - TCGA-HP-A5MZ-01 COSM4942089 c.2400C>T p.P800P Substitution - coding silent 3:49284127-49284127 - YURUS COSM1685547 c.530delC p.A177fs*12 Deletion - Frameshift 3:49324997-49324997 - LS180 COSM2849866 c.2T>C p.M1T Substitution - Missense 3:49340023-49340023 - sysucc-1370T COSM5471755 c.2606C>T p.A869V Substitution - Missense 3:49280782-49280782 - T613 COSM1665847 c.2318_2320delAGA p.K773delK Deletion - In frame 3:49284536-49284538 - TCGA-BR-6452-01 COSM4118479 c.1843A>C p.T615P Substitution - Missense 3:49294447-49294447 - CHLA-258 COSM2849862 c.191T>C p.L64P Substitution - Missense 3:49335507-49335507 - CHC892T COSM4795110 c.20G>A p.C7Y Substitution - Missense 3:49340005-49340005 - YULONE COSM5399590 c.1548C>T p.S516S Substitution - coding silent 3:49298600-49298600 - PT37 COSM5918302 c.1363T>C p.F455L Substitution - Missense 3:49300616-49300616 - ccRCC-24 COSM1665847 c.2318_2320delAGA p.K773delK Deletion - In frame 3:49284536-49284538 - CSCC-19-T COSM4480867 c.2461C>T p.L821L Substitution - coding silent 3:49284066-49284066 - LS174T COSM2849866 c.2T>C p.M1T Substitution - Missense 3:49340023-49340023 - NPC4D COSM4996355 c.1976A>G p.E659G Substitution - Missense 3:49286322-49286322 - T2939 COSM1309261 c.498G>T p.E166D Substitution - Missense 3:49325029-49325029 - RK186_C01 COSM3767466 c.2029A>G p.T677A Substitution - Missense 3:49286269-49286269 - 2492722 COSM5720019 c.1784C>T p.S595F Substitution - Missense 3:49294506-49294506 - CSCC-55-T COSM4469932 c.1629C>T p.F543F Substitution - coding silent 3:49297932-49297932 - CSCC-35-T COSM4536950 c.2364G>A p.M788I Substitution - Missense 3:49284492-49284492 - T3021 COSM4739831 c.836+1delG p.? Unknown 3:49311513-49311513 - TCGA-ER-A19P-06 COSM3595262 c.2851G>C p.G951R Substitution - Missense 3:49278334-49278334 - U2940 COSM5622123 c.1699G>A p.V567I Substitution - Missense 3:49294591-49294591 - TCGA-B5-A11N-01 COSM1046137 c.1012G>A p.E338K Substitution - Missense 3:49305831-49305831 - TCGA-BR-8487-01 COSM4118484 c.115A>G p.S39G Substitution - Missense 3:49335583-49335583 - CSCC-55-T COSM4565671 c.2387_2388CC>TT p.P796L Substitution - Missense 3:49284468-49284469 - CRC-19T COSM5481828 c.1692-5C>T p.? Unknown 3:49294603-49294603 - TCGA-BR-4361-01 COSM4118483 c.531G>A p.A177A Substitution - coding silent 3:49324996-49324996 - SNUH_G16_S1 COSM3683139 c.2644+9T>C p.? Unknown 3:49280735-49280735 - sysucc-1370T COSM5471756 c.2523C>T p.V841V Substitution - coding silent 3:49284004-49284004 - TCGA-33-4538-01 COSM731276 c.2567G>A p.C856Y Substitution - Missense 3:49280821-49280821 - HCT8 COSM4635016 c.2143T>C p.Y715H Substitution - Missense 3:49286155-49286155 - T1844 COSM4739828 c.2480G>A p.R827H Substitution - Missense 3:49284047-49284047 - QC2-34-T2 COSM5654696 c.2405G>A p.C802Y Substitution - Missense 3:49284122-49284122 - TCGA-FP-7916-01 COSM4118481 c.1549G>A p.D517N Substitution - Missense 3:49298599-49298599 - TCGA-G2-A3IE-01 COSM1309263 c.215C>T p.S72F Substitution - Missense 3:49335483-49335483 - TCGA-H4-A2HQ-01 COSM1309262 c.376C>T p.L126L Substitution - coding silent 3:49325830-49325830 - TCGA-13-1488-01 COSM76972 c.558A>C p.K186N Substitution - Missense 3:49324969-49324969 - TCGA-AC-A23H-01 COSM3824152 c.773C>T p.S258F Substitution - Missense 3:49311577-49311577 - ESCC_132 COSM5642408 c.2385C>G p.D795E Substitution - Missense 3:49284471-49284471 - TCGA-B5-A11E-01 COSM1046131 c.2448C>T p.S816S Substitution - coding silent 3:49284079-49284079 - Pat_16_B COSM5864800 c.2237C>T p.T746I Substitution - Missense 3:49284883-49284883 - T578 COSM4739832 c.326G>A p.G109D Substitution - Missense 3:49327720-49327720 - HN_62814 COSM130119 c.119G>A p.R40Q Substitution - Missense 3:49335579-49335579 - TCGA-EE-A3JD-06 COSM4397391 c.1983G>A p.E661E Substitution - coding silent 3:49286315-49286315 - T3724 COSM4739830 c.1829C>T p.P610L Substitution - Missense 3:49294461-49294461 - HCT15 COSM2849852 c.582G>A p.Q194Q Substitution - coding silent 3:49324945-49324945 - B80-Tumor COSM1753276 c.394A>G p.K132E Substitution - Missense 3:49325812-49325812 - TCGA-DA-A3F5-06 COSM3595266 c.1231C>T p.R411W Substitution - Missense 3:49302440-49302440 - TCGA-AA-A02J-01 COSM300828 c.1519G>A p.V507M Substitution - Missense 3:49298629-49298629 - TCGA-D5-6533-01 COSM1423933 c.910C>T p.L304F Substitution - Missense 3:49310664-49310664 - GC8_T COSM149390 c.591G>A p.K197K Substitution - coding silent 3:49324936-49324936 - 2492723 COSM5720019 c.1784C>T p.S595F Substitution - Missense 3:49294506-49294506 - SNU-175 COSM2849827 c.2113A>C p.R705R Substitution - coding silent 3:49286185-49286185 - HCC135T COSM5823000 c.78C>T p.T26T Substitution - coding silent 3:49339947-49339947 - TCGA-24-2289-01 COSM117484 c.1438C>T p.P480S Substitution - Missense 3:49300541-49300541 - TCGA-EV-5902-01 COSM3993149 c.621A>G p.L207L Substitution - coding silent 3:49324906-49324906 - TCGA-AN-A046-01 COSM3824153 c.645T>C p.I215I Substitution - coding silent 3:49324752-49324752 - LUAD-F00162 COSM366429 c.623A>T p.Y208F Substitution - Missense 3:49324904-49324904 - B82 COSM1753275 c.2316G>A p.K772K Substitution - coding silent 3:49284540-49284540 - TCGA-BR-8680-01 COSM4118477 c.2338G>T p.D780Y Substitution - Missense 3:49284518-49284518 - T276 COSM4739829 c.2231G>T p.S744I Substitution - Missense 3:49284889-49284889 - TCGA-BR-8487-01 COSM4118482 c.1232G>A p.R411Q Substitution - Missense 3:49302439-49302439 - S02246 COSM5679077 c.474G>A p.K158K Substitution - coding silent 3:49325732-49325732 - GHE0605 COSM5714038 c.2845C>T p.Q949* Substitution - Nonsense 3:49278340-49278340 - TCGA-BR-4184-01 COSM4118478 c.2274C>A p.A758A Substitution - coding silent 3:49284582-49284582 - 442 COSM4434675 c.2087_2089delAGA p.K696delK Deletion - In frame 3:49286209-49286211 - TCGA-Q1-A73O-01 COSM460779 c.775C>G p.L259V Substitution - Missense 3:49311575-49311575 - 2492720 COSM5720019 c.1784C>T p.S595F Substitution - Missense 3:49294506-49294506 - CSCC-31-T COSM4481121 c.2486C>T p.S829F Substitution - Missense 3:49284041-49284041 - CHEWS003 COSM4584459 c.2440C>G p.L814V Substitution - Missense 3:49284087-49284087 - 2492721 COSM5720019 c.1784C>T p.S595F Substitution - Missense 3:49294506-49294506 - TCGA-DR-A0ZM-01 COSM460779 c.775C>G p.L259V Substitution - Missense 3:49311575-49311575 - TCGA-CM-6674-01 COSM1423928 c.2703C>T p.N901N Substitution - coding silent 3:49278844-49278844 - B82-Tumor COSM1753275 c.2316G>A p.K772K Substitution - coding silent 3:49284540-49284540 - TCGA-AP-A051-01 COSM1046135 c.1441C>T p.L481L Substitution - coding silent 3:49300538-49300538 - TCGA-D3-A51T-06 COSM3595265 c.2079C>T p.T693T Substitution - coding silent 3:49286219-49286219 - LUAD-NYU184 COSM370851 c.2349G>T p.E783D Substitution - Missense 3:49284507-49284507 - ME048T COSM229703 c.2204G>A p.R735Q Substitution - Missense 3:49284916-49284916 - Au4 COSM5605309 c.2725C>T p.Q909* Substitution - Nonsense 3:49278822-49278822 - J82 COSM24326 c.891A>T p.I297I Substitution - coding silent 3:49310683-49310683 - TCGA-EK-A2RJ-01 COSM4832026 c.179G>A p.G60D Substitution - Missense 3:49335519-49335519 - CHC314T COSM4950366 c.2057G>T p.G686V Substitution - Missense 3:49286241-49286241 - TCGA-DD-A4NV-01 COSM4916382 c.2653T>C p.Y885H Substitution - Missense 3:49278894-49278894 - TCGA-EE-A3JD-06 COSM4394505 c.1151C>T p.P384L Substitution - Missense 3:49302520-49302520 - U2940 COSM5622122 c.2697T>G p.D899E Substitution - Missense 3:49278850-49278850 - OSCC-GB_00580111 COSM4886580 c.2733+1G>T p.? Unknown 3:49278813-49278813 - cSCCP1 COSM134076 c.526C>T p.P176S Substitution - Missense 3:49325001-49325001 - TCGA-EE-A3J5-06 COSM3595268 c.661G>A p.D221N Substitution - Missense 3:49324736-49324736 - TCGA-36-2543-01 COSM248251 c.22C>T p.R8C Substitution - Missense 3:49340003-49340003 - OSCC-GB_01280111 COSM5954160 c.2005G>A p.E669K Substitution - Missense 3:49286293-49286293 - LC_C32 COSM1186293 c.2252A>G p.Y751C Substitution - Missense 3:49284868-49284868 - TCGA-AX-A05Z-01 COSM1046136 c.1181C>A p.S394Y Substitution - Missense 3:49302490-49302490 - I2L-P27-Tumor-Biopsy COSM5355488 c.1530G>A p.P510P Substitution - coding silent 3:49298618-49298618 - TCGA-ER-A19F-06 COSM3916261 c.630T>G p.G210G Substitution - coding silent 3:49324897-49324897 - BCM321T COSM4955233 c.695+1G>C p.? Unknown 3:49324701-49324701 - TCGA-BS-A0V8-01 COSM1046132 c.2071G>A p.E691K Substitution - Missense 3:49286227-49286227 - CSCC-42-T COSM4482324 c.2595C>T p.Y865Y Substitution - coding silent 3:49280793-49280793 - CSCC-19-T COSM134076 c.526C>T p.P176S Substitution - Missense 3:49325001-49325001 - BD121T COSM5514934 c.965A>G p.N322S Substitution - Missense 3:49305878-49305878 - TCGA-AX-A0J0-01 COSM1046134 c.1460G>A p.R487Q Substitution - Missense 3:49300519-49300519 - TCGA-AR-A0TX-01 COSM446702 c.944C>G p.S315C Substitution - Missense 3:49310630-49310630 - TCGA-D3-A3MR-06 COSM3595263 c.2460C>T p.I820I Substitution - coding silent 3:49284067-49284067 - P02-2035 COSM248251 c.22C>T p.R8C Substitution - Missense 3:49340003-49340003 - TCGA-A6-5665-01 COSM3696143 c.1040T>C p.M347T Substitution - Missense 3:49305803-49305803 - CHC314T COSM4950366 c.2057G>T p.G686V Substitution - Missense 3:49286241-49286241 - PTC-7C COSM4158142 c.1975G>C p.E659Q Substitution - Missense 3:49286323-49286323 - RK038_C01 COSM3702447 c.2734-10T>G p.? Unknown 3:49278461-49278461 - STC232 COSM5059807 c.853G>A p.A285T Substitution - Missense 3:49310721-49310721 - BCM321T COSM4955233 c.695+1G>C p.? Unknown 3:49324701-49324701 - B80 COSM1753276 c.394A>G p.K132E Substitution - Missense 3:49325812-49325812 - 1423-01-01TD COSM5417102 c.346C>A p.P116T Substitution - Missense 3:49327700-49327700 - TCGA-IR-A3LK-01 COSM4817651 c.2409G>C p.K803N Substitution - Missense 3:49284118-49284118 - TCGA-DK-A3IT-01 COSM1309261 c.498G>T p.E166D Substitution - Missense 3:49325029-49325029 - 585208 COSM326841 c.2656G>T p.A886S Substitution - Missense 3:49278891-49278891 - YUSEL COSM1692771 c.1153C>T p.Q385* Substitution - Nonsense 3:49302518-49302518 - TCGA-AZ-4315-01 COSM1423930 c.1606G>A p.A536T Substitution - Missense 3:49297955-49297955 - ESCC_BICR_002T COSM5440791 c.1053T>G p.I351M Substitution - Missense 3:49305790-49305790 - TCGA-BR-8680-01 COSM2849820 c.2397T>C p.C799C Substitution - coding silent 3:49284130-49284130 - Pat_59_B COSM5864801 c.509G>A p.R170Q Substitution - Missense 3:49325018-49325018 - OSCC-GB_00580111 COSM4886653 c.874C>A p.P292T Substitution - Missense 3:49310700-49310700 - ESCC-112T COSM3940567 c.405G>A p.V135V Substitution - coding silent 3:49325801-49325801 - TCGA-FR-A3YO-06 COSM3916260 c.2532C>T p.F844F Substitution - coding silent 3:49283995-49283995 - PTC-28C COSM4158141 c.2430A>C p.K810N Substitution - Missense 3:49284097-49284097 - TCGA-CM-6162-01 COSM1423929 c.1750T>G p.F584V Substitution - Missense 3:49294540-49294540 - GC8_T COSM149388 c.2272-10A>T p.? Unknown 3:49284594-49284594 - TCGA-FD-A3SS-01 COSM3775154 c.1793C>T p.S598L Substitution - Missense 3:49294497-49294497 - YUKAT COSM5399591 c.1340T>C p.I447T Substitution - Missense 3:49300639-49300639 - B25 COSM1753274 c.2521G>T p.V841F Substitution - Missense 3:49284006-49284006 - TCGA-BD-A3EP-01 COSM4911682 c.509G>T p.R170L Substitution - Missense 3:49325018-49325018 - HN_62814 COSM130118 c.536G>C p.R179P Substitution - Missense 3:49324991-49324991 - TCGA-D1-A163-01 COSM1046139 c.798T>C p.T266T Substitution - coding silent 3:49311552-49311552 - TCGA-13-0889-01 COSM78757 c.1502G>C p.R501T Substitution - Missense 3:49300477-49300477 - Pat_16_A COSM5864800 c.2237C>T p.T746I Substitution - Missense 3:49284883-49284883 - TCGA-BS-A0UV-01 COSM1046130 c.2661G>T p.K887N Substitution - Missense 3:49278886-49278886 - PD4100a COSM165447 c.1636A>G p.I546V Substitution - Missense 3:49297925-49297925 - YUSEL COSM1692772 c.196C>T p.P66S Substitution - Missense 3:49335502-49335502 - SS6003109 COSM4091160 c.2813C>T p.S938F Substitution - Missense 3:49278372-49278372 - B25-Tumor COSM1753274 c.2521G>T p.V841F Substitution - Missense 3:49284006-49284006 - ESCC_BICR_041T COSM5441371 c.2057G>A p.G686E Substitution - Missense 3:49286241-49286241 - C608 COSM4442964 c.1244A>G p.K415R Substitution - Missense 3:49302427-49302427 - 19 COSM5746123 c.2831G>A p.R944Q Substitution - Missense 3:49278354-49278354 - ccRCC-99 COSM1664921 c.1999C>G p.Q667E Substitution - Missense 3:49286299-49286299 - TCGA-B5-A11E-01 COSM1046133 c.1742C>T p.P581L Substitution - Missense 3:49294548-49294548 - BD223T COSM5496469 c.2764C>T p.R922C Substitution - Missense 3:49278421-49278421 - P50 COSM328930 c.901C>G p.L301V Substitution - Missense 3:49310673-49310673 - YURAY COSM5399589 c.1876C>T p.R626C Substitution - Missense 3:49294414-49294414 - TCGA-AX-A0J0-01 COSM1046138 c.946G>A p.A316T Substitution - Missense 3:49310628-49310628 - LUAD-F00121 COSM365800 c.402G>T p.E134D Substitution - Missense 3:49325804-49325804 - 12M COSM4325039 c.1564C>T p.L522F Substitution - Missense 3:49298584-49298584 - 364 COSM3724115 c.2346C>T p.I782I Substitution - coding silent 3:49284510-49284510 - ESCC_13 COSM5625270 c.2617C>T p.H873Y Substitution - Missense 3:49280771-49280771 - GC8_T COSM149389 c.1101C>T p.D367D Substitution - coding silent 3:49305742-49305742 - I2L-P27-Tumor-Organoid COSM5355488 c.1530G>A p.P510P Substitution - coding silent 3:49298618-49298618 - LS174T COSM2849819 c.2465T>C p.V822A Substitution - Missense 3:49284062-49284062 - ESCC_BICR_041T COSM5441370 c.2289G>A p.V763V Substitution - coding silent 3:49284567-49284567 - TCGA-D8-A1JA-01 COSM3824154 c.241C>G p.Q81E Substitution - Missense 3:49327805-49327805 - TCGA-CG-5728-01 COSM4118480 c.1714G>A p.V572M Substitution - Missense 3:49294576-49294576 - CHC892T COSM4795110 c.20G>A p.C7Y Substitution - Missense 3:49340005-49340005 - 1_RESISTANT COSM1720951 c.1547C>T p.S516F Substitution - Missense 3:49298601-49298601 - TCGA-BR-6852-01 COSM4118476 c.2423C>T p.A808V Substitution - Missense 3:49284104-49284104 - AOCS-096-1-7 COSM4149956 c.462C>T p.C154C Substitution - coding silent 3:49325744-49325744 - TCGA-BH-A0B6-01 COSM3824151 c.884C>G p.S295C Substitution - Missense 3:49310690-49310690 - TCGA-DK-A3IT-01 COSM1309260 c.681G>C p.Q227H Substitution - Missense 3:49324716-49324716 - TCGA-BP-4756-01 COSM3365222 c.2526A>T p.V842V Substitution - coding silent 3:49284001-49284001 - TCGA-G3-A25Y-01 COSM4917970 c.299C>G p.A100G Substitution - Missense 3:49327747-49327747 - 13280 COSM5617191 c.487+1delG p.? Unknown 3:49325718-49325718 - T45458580 COSM5715373 c.200G>T p.G67V Substitution - Missense 3:49335498-49335498 - TCGA-HU-A4H8-01 COSM4118475 c.2605G>A p.A869T Substitution - Missense 3:49280783-49280783 - 2160 COSM5014342 c.2345T>C p.I782T Substitution - Missense 3:49284511-49284511 - 100879 COSM95743 c.2645-1G>C p.? Unknown 3:49278903-49278903 - T1154 COSM4739827 c.2733+2T>C p.? Unknown 3:49278812-49278812 - CADO-ES1 COSM2849836 c.1531C>T p.L511L Substitution - coding silent 3:49298617-49298617 - TCGA-EU-5906-01 COSM480233 c.1491C>T p.D497D Substitution - coding silent 3:49300488-49300488 - TARGET-20-PARENB-09A-02D COSM5487188 c.1276C>T p.R426W Substitution - Missense 3:49302395-49302395 - 1_RESISTANT COSM1720952 c.1263G>A p.K421K Substitution - coding silent 3:49302408-49302408 - Pat_70_B COSM1665847 c.2318_2320delAGA p.K773delK Deletion - In frame 3:49284536-49284538 - TCGA-E9-A54X-01 COSM3824155 c.23G>A p.R8H Substitution - Missense 3:49340002-49340002 - Pat_65_A COSM1665847 c.2318_2320delAGA p.K773delK Deletion - In frame 3:49284536-49284538 - STC263 COSM5059806 c.1486G>A p.A496T Substitution - Missense 3:49300493-49300493 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.77500 3p21.3 603486

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.F42C c.125T>G 3 49373006 RCCC A C Synonymous p.G210G c.630T>G 3 49362330 CM - A Frameshift p.N174Qfs*7 c.518dupT 3 49362441 BLCA A G Synonymous p.T266T c.798T>C 3 49348985 UCEC A T Synonymous p.G552G c.1656T>A 3 49335338 LUAD C A Missense p.A886S c.2656G>T 3 49316324 SCLC C A Missense p.E166D c.498G>T 3 49362462 BLCA C A Missense p.G349V c.1046G>T 3 49343230 LUAD CC AA Missense p.G602L c.1804_1805delinsTT 3 49331918 CM C G Missense p.D726H c.2176G>C 3 49323555 LUAD C G Missense p.G270A c.809G>C 3 49348974 CM C G Missense p.G951R c.2851G>C 3 49315767 CM C G Missense p.Q227H c.681G>C 3 49362149 BLCA C G Missense p.R179P c.536G>C 3 49362424 HNSC C G Missense p.R501T c.1502G>C 3 49337910 OV C G SpliceDonorSNV . c.1972+1G>C 3 49329942 HNSC C - IntronicDeletion . c.487+1delG 3 49363151 NSCLC C T Missense p.C856Y c.2567G>A 3 49318254 LUSC C T Missense p.D221N c.661G>A 3 49362169 CM C T Missense p.E691K c.2071G>A 3 49323660 UCEC C T Missense p.R40Q c.119G>A 3 49373012 HNSC C T Missense p.R944Q c.2831G>A 3 49315787 CM C T Missense p.V507M c.1519G>A 3 49336062 COREAD C T Missense p.V572M c.1714G>A 3 49332009 STAD C T Synonymous p.E661E c.1983G>A 3 49323748 CM C T Synonymous p.L479L c.1437G>A 3 49337975 LUAD G A IntronicSNV . c.696-68C>T 3 49349155 CM G A Missense p.A808V c.2423C>T 3 49321537 STAD G A Missense p.P176S c.526C>T 3 49362434 CM G A Missense p.P384L c.1151C>T 3 49339953 CM G A Missense p.P384S c.1150C>T 3 49339954 BLCA G A Missense p.P480S c.1438C>T 3 49337974 OV G A Missense p.R411W c.1231C>T 3 49339873 CM G A Missense p.S286L c.857C>T 3 49348150 CM G A Missense p.S72F c.215C>T 3 49372916 BLCA G A Nonsense p.R735* c.2203C>T 3 49322350 CM G A Synonymous p.D497D c.1491C>T 3 49337921 RCCC G A Synonymous p.I820I c.2460C>T 3 49321500 CM G A Synonymous p.L126L c.376C>T 3 49363263 BLCA G A Synonymous p.S593S c.1779C>T 3 49331944 CLL - GC Frameshift p.Q603Rfs*13 c.1806_1807dupGC 3 49331917 LUAD G C IntronicSNV . c.1129-194C>G 3 49340169 CLL G T Missense p.S655R c.1965C>A 3 49329950 LUAD G T Nonsense p.S247* c.740C>A 3 49349043 CM T A Missense p.Y885F c.2654A>T 3 49316326 CM T A Synonymous p.V842V c.2526A>T 3 49321434 RCCC T C Missense p.I546V c.1636A>G 3 49335358 BRCA TCT - InFrameDeletion p.K773delK c.2318_2320delAGA 3 49321969 BLCA T - Frameshift p.K811Sfs*32 c.2432delA 3 49321528 LUAD T G Missense p.K186N c.558A>C 3 49362402 OV T G Missense p.N174T c.521A>C 3 49362439 HNSC