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 18 33722249 33722249 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr18:33722249G>C c.594G>C c.(592-594)caG>caC p.Q198H BLCA 18 33722264 33722264 + Silent SNP C C G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 g.chr18:33722264C>G c.609C>G c.(607-609)ctC>ctG p.L203L BLCA 18 33722792 33722792 + Missense_Mutation SNP G G C TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr18:33722792G>C c.659G>C c.(658-660)aGa>aCa p.R220T BLCA 18 33722875 33722875 + Missense_Mutation SNP C C G TCGA-ZF-AA53-01A-11D-A391-08 TCGA-ZF-AA53-10A-01D-A394-08 g.chr18:33722875C>G c.742C>G c.(742-744)Cag>Gag p.Q248E BLCA 18 33734812 33734812 + Splice_Site SNP G G A TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr18:33734812G>A c.e12-1 BLCA 18 33736466 33736466 + Missense_Mutation SNP G G A TCGA-DK-AA77-01A-11D-A391-08 TCGA-DK-AA77-10A-01D-A394-08 g.chr18:33736466G>A c.1313G>A c.(1312-1314)gGg>gAg p.G438E BLCA 18 33738800 33738800 + Missense_Mutation SNP A A T TCGA-FD-A3B4-01A-12D-A202-08 TCGA-FD-A3B4-10A-01D-A202-08 g.chr18:33738800A>T c.1467A>T c.(1465-1467)caA>caT p.Q489H BLCA 18 33738801 33738801 + Missense_Mutation SNP G G T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 g.chr18:33738801G>T c.1468G>T c.(1468-1470)Gat>Tat p.D490Y BLCA 18 33744582 33744582 + Nonsense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 g.chr18:33744582C>T c.1906C>T c.(1906-1908)Cga>Tga p.R636* BLCA 18 33744590 33744590 + Nonsense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 g.chr18:33744590G>A c.1914G>A c.(1912-1914)tgG>tgA p.W638* BLCA 18 33754520 33754520 + Silent SNP A A C TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 g.chr18:33754520A>C c.2397A>C c.(2395-2397)gcA>gcC p.A799A BRCA 18 33709951 33709951 + Missense_Mutation SNP C C T TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr18:33709951C>T c.55C>T c.(55-57)Cgg>Tgg p.R19W BRCA 18 33716295 33716295 + Frame_Shift_Del DEL A A - TCGA-BH-A1F6-01A-11D-A13L-09 TCGA-BH-A1F6-11B-94D-A13O-09 g.chr18:33716295delA c.243delA c.(241-243)ggafs p.G82fs BRCA 18 33721133 33721133 + Missense_Mutation SNP G G C TCGA-C8-A130-01A-31D-A10Y-09 TCGA-C8-A130-10A-01D-A110-09 g.chr18:33721133G>C c.557G>C c.(556-558)aGa>aCa p.R186T BRCA 18 33722826 33722826 + Silent SNP C C T TCGA-A2-A0EO-01A-11W-A050-09 TCGA-A2-A0EO-10A-01W-A055-09 g.chr18:33722826C>T c.693C>T c.(691-693)tgC>tgT p.C231C BRCA 18 33726233 33726233 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr18:33726233T>G c.1014T>G c.(1012-1014)ggT>ggG p.G338G BRCA 18 33738853 33738853 + Missense_Mutation SNP A A C TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr18:33738853A>C c.1520A>C c.(1519-1521)aAa>aCa p.K507T BRCA 18 33750135 33750135 + Missense_Mutation SNP G G T TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 g.chr18:33750135G>T c.2186G>T c.(2185-2187)tGc>tTc p.C729F BRCA 18 33750147 33750147 + Missense_Mutation SNP A A C TCGA-A2-A0T5-01A-21D-A099-09 TCGA-A2-A0T5-10A-01D-A099-09 g.chr18:33750147A>C c.2198A>C c.(2197-2199)cAc>cCc p.H733P CESC 18 33713236 33713236 + Silent SNP C C A TCGA-JW-A5VH-01A-11D-A28B-09 TCGA-JW-A5VH-10A-01D-A28E-09 g.chr18:33713236C>A c.174C>A c.(172-174)acC>acA p.T58T CESC 18 33740957 33740957 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr18:33740957C>T c.1751C>T c.(1750-1752)tCa>tTa p.S584L CESC 18 33750155 33750155 + Nonsense_Mutation SNP C C T TCGA-FU-A3YQ-01A-11D-A22X-09 TCGA-FU-A3YQ-10A-01D-A22X-09 g.chr18:33750155C>T c.2206C>T c.(2206-2208)Caa>Taa p.Q736* COAD 18 33716274 33716274 + Silent SNP T T C TCGA-AA-3870-01A-01W-0995-10 TCGA-AA-3870-10A-01W-0995-10 g.chr18:33716274T>C c.222T>C c.(220-222)ccT>ccC p.P74P COAD 18 33718276 33718276 + Missense_Mutation SNP A A G TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr18:33718276A>G c.332A>G c.(331-333)tAt>tGt p.Y111C COAD 18 33718822 33718822 + Silent SNP G G A TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr18:33718822G>A c.510G>A c.(508-510)ttG>ttA p.L170L COAD 18 33725931 33725931 + Missense_Mutation SNP G G A TCGA-AZ-6608-01A-11D-1835-10 TCGA-AZ-6608-11A-01D-1835-10 g.chr18:33725931G>A c.913G>A c.(913-915)Gtg>Atg p.V305M COAD 18 33726311 33726311 + Silent SNP G G A TCGA-AA-3833-01A-01W-0900-09 TCGA-AA-3833-10A-01W-0900-09 g.chr18:33726311G>A c.1092G>A c.(1090-1092)gcG>gcA p.A364A COAD 18 33734939 33734939 + Missense_Mutation SNP T T C TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr18:33734939T>C c.1252T>C c.(1252-1254)Tgg>Cgg p.W418R COAD 18 33739713 33739713 + Missense_Mutation SNP A A G TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr18:33739713A>G c.1550A>G c.(1549-1551)cAg>cGg p.Q517R COAD 18 33740913 33740913 + Missense_Mutation SNP A A C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr18:33740913A>C c.1707A>C c.(1705-1707)gaA>gaC p.E569D COAD 18 33740919 33740919 + Silent SNP T T C TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr18:33740919T>C c.1713T>C c.(1711-1713)ttT>ttC p.F571F COAD 18 33744543 33744543 + Missense_Mutation SNP T T C TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr18:33744543T>C c.1867T>C c.(1867-1869)Tca>Cca p.S623P COAD 18 33744583 33744583 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr18:33744583G>A c.1907G>A c.(1906-1908)cGa>cAa p.R636Q COAD 18 33750047 33750047 + Missense_Mutation SNP G G A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr18:33750047G>A c.2098G>A c.(2098-2100)Gac>Aac p.D700N COAD 18 33754460 33754460 + Silent SNP A A G TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr18:33754460A>G c.2337A>G c.(2335-2337)acA>acG p.T779T COADREAD 18 33716274 33716274 + Silent SNP T T C TCGA-AA-3870-01A-01W-0995-10 TCGA-AA-3870-10A-01W-0995-10 g.chr18:33716274T>C c.222T>C c.(220-222)ccT>ccC p.P74P COADREAD 18 33718276 33718276 + Missense_Mutation SNP A A G TCGA-AA-A022-01A-21W-A096-10 TCGA-AA-A022-11A-11W-A096-10 g.chr18:33718276A>G c.332A>G c.(331-333)tAt>tGt p.Y111C COADREAD 18 33718822 33718822 + Silent SNP G G A TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr18:33718822G>A c.510G>A c.(508-510)ttG>ttA p.L170L COADREAD 18 33725931 33725931 + Missense_Mutation SNP G G A TCGA-AZ-6608-01A-11D-1835-10 TCGA-AZ-6608-11A-01D-1835-10 g.chr18:33725931G>A c.913G>A c.(913-915)Gtg>Atg p.V305M COADREAD 18 33726311 33726311 + Silent SNP G G A TCGA-AA-3833-01A-01W-0900-09 TCGA-AA-3833-10A-01W-0900-09 g.chr18:33726311G>A c.1092G>A c.(1090-1092)gcG>gcA p.A364A COADREAD 18 33734939 33734939 + Missense_Mutation SNP T T C TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr18:33734939T>C c.1252T>C c.(1252-1254)Tgg>Cgg p.W418R COADREAD 18 33739713 33739713 + Missense_Mutation SNP A A G TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr18:33739713A>G c.1550A>G c.(1549-1551)cAg>cGg p.Q517R COADREAD 18 33739747 33739747 + Silent SNP T T G TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr18:33739747T>G c.1584T>G c.(1582-1584)acT>acG p.T528T COADREAD 18 33740913 33740913 + Missense_Mutation SNP A A C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr18:33740913A>C c.1707A>C c.(1705-1707)gaA>gaC p.E569D COADREAD 18 33740919 33740919 + Silent SNP T T C TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr18:33740919T>C c.1713T>C c.(1711-1713)ttT>ttC p.F571F COADREAD 18 33744543 33744543 + Missense_Mutation SNP T T C TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr18:33744543T>C c.1867T>C c.(1867-1869)Tca>Cca p.S623P COADREAD 18 33744583 33744583 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr18:33744583G>A c.1907G>A c.(1906-1908)cGa>cAa p.R636Q COADREAD 18 33750047 33750047 + Missense_Mutation SNP G G A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr18:33750047G>A c.2098G>A c.(2098-2100)Gac>Aac p.D700N COADREAD 18 33754460 33754460 + Silent SNP A A G TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr18:33754460A>G c.2337A>G c.(2335-2337)acA>acG p.T779T DLBC 18 33744465 33744465 + Missense_Mutation SNP A A G TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr18:33744465A>G c.1789A>G c.(1789-1791)Att>Gtt p.I597V ESCA 18 33725927 33725927 + Missense_Mutation SNP G G T TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr18:33725927G>T c.909G>T c.(907-909)caG>caT p.Q303H ESCA 18 33744537 33744537 + Missense_Mutation SNP G G A TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 g.chr18:33744537G>A c.1861G>A c.(1861-1863)Gcc>Acc p.A621T ESCA 18 33750037 33750037 + Nonsense_Mutation SNP G G A TCGA-IG-A4QS-01A-11D-A27G-09 TCGA-IG-A4QS-10A-01D-A27G-09 g.chr18:33750037G>A c.2088G>A c.(2086-2088)tgG>tgA p.W696* ESCA 18 33750130 33750130 + Silent SNP C C T TCGA-R6-A6L4-01A-11D-A31U-09 TCGA-R6-A6L4-10A-01D-A31U-09 g.chr18:33750130C>T c.2181C>T c.(2179-2181)agC>agT p.S727S GBM 18 33740957 33740957 + Nonsense_Mutation SNP C C G TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 g.chr18:33740957C>G c.1751C>G c.(1750-1752)tCa>tGa p.S584* GBMLGG 18 33738840 33738840 + Nonsense_Mutation SNP G G T TCGA-HT-A61B-01A-11D-A29Q-08 TCGA-HT-A61B-10A-01D-A29Q-08 g.chr18:33738840G>T c.1507G>T c.(1507-1509)Gga>Tga p.G503* GBMLGG 18 33739707 33739707 + Missense_Mutation SNP C C T TCGA-HT-7476-01A-11D-2024-08 TCGA-HT-7476-10A-01D-2024-08 g.chr18:33739707C>T c.1544C>T c.(1543-1545)gCt>gTt p.A515V GBMLGG 18 33740957 33740957 + Nonsense_Mutation SNP C C G TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 g.chr18:33740957C>G c.1751C>G c.(1750-1752)tCa>tGa p.S584* HNSC 18 33721123 33721123 + Missense_Mutation SNP G G A TCGA-KU-A66S-01A-21D-A30E-08 TCGA-KU-A66S-10A-01D-A30H-08 g.chr18:33721123G>A c.547G>A c.(547-549)Gat>Aat p.D183N HNSC 18 33739932 33739932 + Missense_Mutation SNP G G A TCGA-TN-A7HL-01A-11D-A34J-08 TCGA-TN-A7HL-10A-01D-A34M-08 g.chr18:33739932G>A c.1642G>A c.(1642-1644)Gag>Aag p.E548K HNSC 18 33750144 33750144 + Missense_Mutation SNP T T G TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 g.chr18:33750144T>G c.2195T>G c.(2194-2196)cTc>cGc p.L732R KIPAN 18 33709981 33709981 + Nonsense_Mutation SNP A A T TCGA-AK-3428-01A-02D-1361-10 TCGA-AK-3428-10A-01D-1361-10 g.chr18:33709981A>T c.85A>T c.(85-87)Aga>Tga p.R29* KIPAN 18 33734957 33734957 + Missense_Mutation SNP T T G TCGA-BP-5201-01A-01D-1429-08 TCGA-BP-5201-11A-01D-1429-08 g.chr18:33734957T>G c.1270T>G c.(1270-1272)Tca>Gca p.S424A KIPAN 18 33750159 33750159 + Splice_Site SNP G G T TCGA-BP-4983-01A-01D-1462-08 TCGA-BP-4983-11A-01D-1462-08 g.chr18:33750159G>T c.2210G>T c.(2209-2211)cGa>cTa p.R737L KIRC 18 33709981 33709981 + Nonsense_Mutation SNP A A T TCGA-AK-3428-01A-02D-1361-10 TCGA-AK-3428-10A-01D-1361-10 g.chr18:33709981A>T c.85A>T c.(85-87)Aga>Tga p.R29* KIRC 18 33734957 33734957 + Missense_Mutation SNP T T G TCGA-BP-5201-01A-01D-1429-08 TCGA-BP-5201-11A-01D-1429-08 g.chr18:33734957T>G c.1270T>G c.(1270-1272)Tca>Gca p.S424A KIRC 18 33750159 33750159 + Splice_Site SNP G G T TCGA-BP-4983-01A-01D-1462-08 TCGA-BP-4983-11A-01D-1462-08 g.chr18:33750159G>T c.2210G>T c.(2209-2211)cGa>cTa p.R737L LGG 18 33738840 33738840 + Nonsense_Mutation SNP G G T TCGA-HT-A61B-01A-11D-A29Q-08 TCGA-HT-A61B-10A-01D-A29Q-08 g.chr18:33738840G>T c.1507G>T c.(1507-1509)Gga>Tga p.G503* LGG 18 33739707 33739707 + Missense_Mutation SNP C C T TCGA-HT-7476-01A-11D-2024-08 TCGA-HT-7476-10A-01D-2024-08 g.chr18:33739707C>T c.1544C>T c.(1543-1545)gCt>gTt p.A515V LIHC 18 33709907 33709907 + Missense_Mutation SNP C C T TCGA-CC-A3MB-01A-11D-A20W-10 TCGA-CC-A3MB-10A-01D-A20W-10 g.chr18:33709907C>T c.11C>T c.(10-12)cCc>cTc p.P4L LUAD 18 33724961 33724961 + Missense_Mutation SNP G G T TCGA-05-4382-01A-01D-1931-08 TCGA-05-4382-10A-01D-1265-08 g.chr18:33724961G>T c.856G>T c.(856-858)Gta>Tta p.V286L LUAD 18 33734899 33734899 + Silent SNP C C T TCGA-69-7763-01A-11D-2167-08 TCGA-69-7763-10A-01D-2167-08 g.chr18:33734899C>T c.1212C>T c.(1210-1212)atC>atT p.I404I LUAD 18 33734940 33734940 + Missense_Mutation SNP G G T TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 g.chr18:33734940G>T c.1253G>T c.(1252-1254)tGg>tTg p.W418L LUAD 18 33736468 33736468 + Missense_Mutation SNP T T C TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 g.chr18:33736468T>C c.1315T>C c.(1315-1317)Tat>Cat p.Y439H LUAD 18 33747106 33747106 + Missense_Mutation SNP C C T TCGA-69-7978-01A-11D-2184-08 TCGA-69-7978-10A-01D-2184-08 g.chr18:33747106C>T c.1997C>T c.(1996-1998)tCt>tTt p.S666F LUAD 18 33751061 33751061 + Missense_Mutation SNP G G C TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 g.chr18:33751061G>C c.2262G>C c.(2260-2262)tgG>tgC p.W754C LUSC 18 33710009 33710009 + Missense_Mutation SNP G G T TCGA-66-2789-01A-01D-0983-08 TCGA-66-2789-11A-01D-0983-08 g.chr18:33710009G>T c.113G>T c.(112-114)tGc>tTc p.C38F LUSC 18 33722805 33722805 + Silent SNP A A T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 g.chr18:33722805A>T c.672A>T c.(670-672)ctA>ctT p.L224L LUSC 18 33725955 33725955 + Missense_Mutation SNP G G T TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 g.chr18:33725955G>T c.937G>T c.(937-939)Gat>Tat p.D313Y LUSC 18 33726217 33726217 + Missense_Mutation SNP G G T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 g.chr18:33726217G>T c.998G>T c.(997-999)cGa>cTa p.R333L PRAD 18 33739979 33739979 + Splice_Site SNP G G T TCGA-EJ-7783-01A-11D-2114-08 TCGA-EJ-7783-10A-01D-2114-08 g.chr18:33739979G>T c.e16+1 PRAD 18 33747151 33747151 + Missense_Mutation SNP G G A TCGA-J4-AATZ-01A-11D-A41K-08 TCGA-J4-AATZ-10A-01D-A41N-08 g.chr18:33747151G>A c.2042G>A c.(2041-2043)aGc>aAc p.S681N READ 18 33739747 33739747 + Silent SNP T T G TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr18:33739747T>G c.1584T>G c.(1582-1584)acT>acG p.T528T SKCM 18 33713200 33713200 + Splice_Site SNP G G A TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr18:33713200G>A c.e2-1 SKCM 18 33718367 33718367 + Silent SNP C C G TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr18:33718367C>G c.423C>G c.(421-423)ctC>ctG p.L141L SKCM 18 33744542 33744542 + Silent SNP C C T TCGA-D3-A1Q6-06A-11D-A196-08 TCGA-D3-A1Q6-10A-01D-A198-08 g.chr18:33744542C>T c.1866C>T c.(1864-1866)ttC>ttT p.F622F SKCM 18 33744557 33744557 + Missense_Mutation SNP G G C TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 g.chr18:33744557G>C c.1881G>C c.(1879-1881)aaG>aaC p.K627N

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 18 33754435 33754435 single base substitution A G intron_variant BLCA-US 18 33706705 33706705 single base substitution C G upstream_gene_variant BLCA-US 18 33722249 33722249 single base substitution G C 3_prime_UTR_variant BLCA-US 18 33722249 33722249 single base substitution G C downstream_gene_variant BLCA-US 18 33722249 33722249 single base substitution G C exon_variant BLCA-US 18 33722249 33722249 single base substitution G C intron_variant BLCA-US 18 33722249 33722249 single base substitution G C missense_variant Q172H 516G>C BLCA-US 18 33722249 33722249 single base substitution G C missense_variant Q198H 594G>C BLCA-US 18 33722249 33722249 single base substitution G C missense_variant Q237H 711G>C BLCA-US 18 33722249 33722249 single base substitution G C missense_variant Q263H 789G>C BLCA-US 18 33722249 33722249 single base substitution G C missense_variant Q49H 147G>C BLCA-US 18 33722264 33722264 single base substitution C G 3_prime_UTR_variant BLCA-US 18 33722264 33722264 single base substitution C G downstream_gene_variant BLCA-US 18 33722264 33722264 single base substitution C G exon_variant BLCA-US 18 33722264 33722264 single base substitution C G intron_variant BLCA-US 18 33722264 33722264 single base substitution C G synonymous_variant L177L 531C>G BLCA-US 18 33722264 33722264 single base substitution C G synonymous_variant L203L 609C>G BLCA-US 18 33722264 33722264 single base substitution C G synonymous_variant L242L 726C>G BLCA-US 18 33722264 33722264 single base substitution C G synonymous_variant L268L 804C>G BLCA-US 18 33722264 33722264 single base substitution C G synonymous_variant L54L 162C>G BLCA-US 18 33722792 33722792 single base substitution G C 3_prime_UTR_variant BLCA-US 18 33722792 33722792 single base substitution G C downstream_gene_variant BLCA-US 18 33722792 33722792 single base substitution G C exon_variant BLCA-US 18 33722792 33722792 single base substitution G C intron_variant BLCA-US 18 33722792 33722792 single base substitution G C missense_variant R150T 449G>C BLCA-US 18 33722792 33722792 single base substitution G C missense_variant R194T 581G>C BLCA-US 18 33722792 33722792 single base substitution G C missense_variant R220T 659G>C BLCA-US 18 33722792 33722792 single base substitution G C missense_variant R259T 776G>C BLCA-US 18 33722792 33722792 single base substitution G C missense_variant R285T 854G>C BLCA-US 18 33738801 33738801 single base substitution G T exon_variant BLCA-US 18 33738801 33738801 single base substitution G T intron_variant BLCA-US 18 33738801 33738801 single base substitution G T missense_variant D420Y 1258G>T BLCA-US 18 33738801 33738801 single base substitution G T missense_variant D464Y 1390G>T BLCA-US 18 33738801 33738801 single base substitution G T missense_variant D485Y 1453G>T BLCA-US 18 33738801 33738801 single base substitution G T missense_variant D490Y 1468G>T BLCA-US 18 33738801 33738801 single base substitution G T missense_variant D555Y 1663G>T BLCA-US 18 33738801 33738801 single base substitution G T upstream_gene_variant BLCA-US 18 33744590 33744590 single base substitution G A downstream_gene_variant BLCA-US 18 33744590 33744590 single base substitution G A exon_variant BLCA-US 18 33744590 33744590 single base substitution G A intron_variant BLCA-US 18 33744590 33744590 single base substitution G A stop_gained W568* 1704G>A BLCA-US 18 33744590 33744590 single base substitution G A stop_gained W612* 1836G>A BLCA-US 18 33744590 33744590 single base substitution G A stop_gained W633* 1899G>A BLCA-US 18 33744590 33744590 single base substitution G A stop_gained W638* 1914G>A BLCA-US 18 33744590 33744590 single base substitution G A stop_gained W703* 2109G>A BLCA-US 18 33744590 33744590 single base substitution G A upstream_gene_variant BRCA-EU 18 33704408 33704411 deletion of <=200bp TGAT - upstream_gene_variant BRCA-EU 18 33704516 33704516 single base substitution C T upstream_gene_variant BRCA-EU 18 33705928 33705928 single base substitution A G upstream_gene_variant BRCA-EU 18 33707607 33707607 single base substitution C T upstream_gene_variant BRCA-EU 18 33707813 33707813 single base substitution G C upstream_gene_variant BRCA-EU 18 33709784 33709784 single base substitution C G intron_variant BRCA-EU 18 33709784 33709784 single base substitution C G upstream_gene_variant BRCA-EU 18 33709982 33709982 single base substitution G C exon_variant BRCA-EU 18 33709982 33709982 single base substitution G C intron_variant BRCA-EU 18 33709982 33709982 single base substitution G C missense_variant R29T 86G>C BRCA-EU 18 33711445 33711445 single base substitution G A intron_variant BRCA-EU 18 33713049 33713049 single base substitution G A intron_variant BRCA-EU 18 33713049 33713049 single base substitution G A upstream_gene_variant BRCA-EU 18 33713803 33713803 single base substitution C G intron_variant BRCA-EU 18 33713803 33713803 single base substitution C G upstream_gene_variant BRCA-EU 18 33714723 33714723 single base substitution G A intron_variant BRCA-EU 18 33714723 33714723 single base substitution G A upstream_gene_variant BRCA-EU 18 33715202 33715202 single base substitution A G intron_variant BRCA-EU 18 33715202 33715202 single base substitution A G upstream_gene_variant BRCA-EU 18 33715669 33715669 single base substitution A T intron_variant BRCA-EU 18 33715669 33715669 single base substitution A T upstream_gene_variant BRCA-EU 18 33716031 33716031 single base substitution T G intron_variant BRCA-EU 18 33716031 33716031 single base substitution T G upstream_gene_variant BRCA-EU 18 33717311 33717311 insertion of <=200bp - T downstream_gene_variant BRCA-EU 18 33717311 33717311 insertion of <=200bp - T intron_variant BRCA-EU 18 33717311 33717311 insertion of <=200bp - T upstream_gene_variant BRCA-EU 18 33718068 33718068 single base substitution C T downstream_gene_variant BRCA-EU 18 33718068 33718068 single base substitution C T exon_variant BRCA-EU 18 33718068 33718068 single base substitution C T intron_variant BRCA-EU 18 33718068 33718068 single base substitution C T upstream_gene_variant BRCA-EU 18 33718288 33718288 single base substitution C G 3_prime_UTR_variant BRCA-EU 18 33718288 33718288 single base substitution C G 5_prime_UTR_variant BRCA-EU 18 33718288 33718288 single base substitution C G downstream_gene_variant BRCA-EU 18 33718288 33718288 single base substitution C G exon_variant BRCA-EU 18 33718288 33718288 single base substitution C G intron_variant BRCA-EU 18 33718288 33718288 single base substitution C G missense_variant A115G 344C>G BRCA-EU 18 33718288 33718288 single base substitution C G upstream_gene_variant BRCA-EU 18 33718897 33718897 single base substitution G A downstream_gene_variant BRCA-EU 18 33718897 33718897 single base substitution G A intron_variant BRCA-EU 18 33718897 33718897 single base substitution G A upstream_gene_variant BRCA-EU 18 33719869 33719869 single base substitution A G downstream_gene_variant BRCA-EU 18 33719869 33719869 single base substitution A G intron_variant BRCA-EU 18 33719869 33719869 single base substitution A G upstream_gene_variant BRCA-EU 18 33722105 33722105 single base substitution A T downstream_gene_variant BRCA-EU 18 33722105 33722105 single base substitution A T intron_variant BRCA-EU 18 33724684 33724684 single base substitution A T downstream_gene_variant BRCA-EU 18 33724684 33724684 single base substitution A T intron_variant BRCA-EU 18 33726799 33726799 deletion of <=200bp A - downstream_gene_variant BRCA-EU 18 33726799 33726799 deletion of <=200bp A - intron_variant BRCA-EU 18 33726843 33726843 single base substitution C G downstream_gene_variant BRCA-EU 18 33726843 33726843 single base substitution C G intron_variant BRCA-EU 18 33729370 33729370 single base substitution C T downstream_gene_variant BRCA-EU 18 33729370 33729370 single base substitution C T intron_variant BRCA-EU 18 33739991 33739991 single base substitution G C intron_variant BRCA-EU 18 33740195 33740195 single base substitution C T intron_variant BRCA-EU 18 33740474 33740474 single base substitution G C intron_variant BRCA-EU 18 33741270 33741270 single base substitution C A intron_variant BRCA-EU 18 33742247 33742247 single base substitution A T intron_variant BRCA-EU 18 33742247 33742247 single base substitution A T upstream_gene_variant BRCA-EU 18 33743769 33743769 single base substitution G A intron_variant BRCA-EU 18 33743769 33743769 single base substitution G A upstream_gene_variant BRCA-EU 18 33744329 33744329 single base substitution C G intron_variant BRCA-EU 18 33744329 33744329 single base substitution C G upstream_gene_variant BRCA-EU 18 33745351 33745351 single base substitution G A downstream_gene_variant BRCA-EU 18 33745351 33745351 single base substitution G A intron_variant BRCA-EU 18 33745351 33745351 single base substitution G A upstream_gene_variant BRCA-EU 18 33745363 33745363 single base substitution C A downstream_gene_variant BRCA-EU 18 33745363 33745363 single base substitution C A intron_variant BRCA-EU 18 33745363 33745363 single base substitution C A upstream_gene_variant BRCA-EU 18 33746290 33746290 insertion of <=200bp - TTG downstream_gene_variant BRCA-EU 18 33746290 33746290 insertion of <=200bp - TTG intron_variant BRCA-EU 18 33746290 33746290 insertion of <=200bp - TTG upstream_gene_variant BRCA-EU 18 33746854 33746854 single base substitution C G downstream_gene_variant BRCA-EU 18 33746854 33746854 single base substitution C G exon_variant BRCA-EU 18 33746854 33746854 single base substitution C G intron_variant BRCA-EU 18 33746854 33746854 single base substitution C G upstream_gene_variant BRCA-EU 18 33747638 33747638 single base substitution C G downstream_gene_variant BRCA-EU 18 33747638 33747638 single base substitution C G intron_variant BRCA-EU 18 33747638 33747638 single base substitution C G upstream_gene_variant BRCA-EU 18 33749048 33749048 single base substitution C T downstream_gene_variant BRCA-EU 18 33749048 33749048 single base substitution C T intron_variant BRCA-EU 18 33749048 33749048 single base substitution C T upstream_gene_variant BRCA-EU 18 33749452 33749452 single base substitution C T downstream_gene_variant BRCA-EU 18 33749452 33749452 single base substitution C T intron_variant BRCA-EU 18 33749452 33749452 single base substitution C T upstream_gene_variant BRCA-EU 18 33749576 33749576 single base substitution C A downstream_gene_variant BRCA-EU 18 33749576 33749576 single base substitution C A intron_variant BRCA-EU 18 33749576 33749576 single base substitution C A upstream_gene_variant BRCA-EU 18 33749947 33749947 single base substitution C G downstream_gene_variant BRCA-EU 18 33749947 33749947 single base substitution C G exon_variant BRCA-EU 18 33749947 33749947 single base substitution C G intron_variant BRCA-EU 18 33749947 33749947 single base substitution C G upstream_gene_variant BRCA-EU 18 33753611 33753611 single base substitution C T intron_variant BRCA-EU 18 33756496 33756496 single base substitution C A 3_prime_UTR_variant BRCA-EU 18 33756496 33756496 single base substitution C A downstream_gene_variant BRCA-EU 18 33757912 33757912 single base substitution A G downstream_gene_variant BRCA-EU 18 33758098 33758098 single base substitution C T downstream_gene_variant BRCA-EU 18 33758220 33758220 insertion of <=200bp - A downstream_gene_variant BRCA-EU 18 33759308 33759308 single base substitution C T downstream_gene_variant BRCA-FR 18 33709982 33709982 single base substitution G C exon_variant BRCA-FR 18 33709982 33709982 single base substitution G C intron_variant BRCA-FR 18 33709982 33709982 single base substitution G C missense_variant R29T 86G>C BRCA-FR 18 33735233 33735233 single base substitution C G intron_variant BRCA-FR 18 33735233 33735233 single base substitution C G upstream_gene_variant BRCA-FR 18 33740474 33740474 single base substitution G C intron_variant BRCA-FR 18 33742247 33742247 single base substitution A T intron_variant BRCA-FR 18 33742247 33742247 single base substitution A T upstream_gene_variant BRCA-FR 18 33744329 33744329 single base substitution C G intron_variant BRCA-FR 18 33744329 33744329 single base substitution C G upstream_gene_variant BRCA-KR 18 33750054 33750054 single base substitution C G 3_prime_UTR_variant BRCA-KR 18 33750054 33750054 single base substitution C G downstream_gene_variant BRCA-KR 18 33750054 33750054 single base substitution C G exon_variant BRCA-KR 18 33750054 33750054 single base substitution C G missense_variant T632S 1895C>G BRCA-KR 18 33750054 33750054 single base substitution C G missense_variant T676S 2027C>G BRCA-KR 18 33750054 33750054 single base substitution C G missense_variant T697S 2090C>G BRCA-KR 18 33750054 33750054 single base substitution C G missense_variant T702S 2105C>G BRCA-KR 18 33750054 33750054 single base substitution C G missense_variant T767S 2300C>G BRCA-KR 18 33750054 33750054 single base substitution C G upstream_gene_variant BRCA-UK 18 33706965 33706965 single base substitution C T upstream_gene_variant BRCA-UK 18 33714723 33714723 single base substitution G A intron_variant BRCA-UK 18 33714723 33714723 single base substitution G A upstream_gene_variant BRCA-UK 18 33718288 33718288 single base substitution C G 3_prime_UTR_variant BRCA-UK 18 33718288 33718288 single base substitution C G 5_prime_UTR_variant BRCA-UK 18 33718288 33718288 single base substitution C G downstream_gene_variant BRCA-UK 18 33718288 33718288 single base substitution C G exon_variant BRCA-UK 18 33718288 33718288 single base substitution C G intron_variant BRCA-UK 18 33718288 33718288 single base substitution C G missense_variant A115G 344C>G BRCA-UK 18 33718288 33718288 single base substitution C G upstream_gene_variant BRCA-US 18 33706858 33706858 single base substitution G C upstream_gene_variant BRCA-US 18 33709951 33709951 single base substitution C T exon_variant BRCA-US 18 33709951 33709951 single base substitution C T intron_variant BRCA-US 18 33709951 33709951 single base substitution C T missense_variant R19W 55C>T BRCA-US 18 33716295 33716295 deletion of <=200bp A - 3_prime_UTR_variant BRCA-US 18 33716295 33716295 deletion of <=200bp A - 5_prime_UTR_variant BRCA-US 18 33716295 33716295 deletion of <=200bp A - exon_variant BRCA-US 18 33716295 33716295 deletion of <=200bp A - frameshift_variant G81 BRCA-US 18 33716295 33716295 deletion of <=200bp A - upstream_gene_variant BRCA-US 18 33721133 33721133 single base substitution G C 3_prime_UTR_variant BRCA-US 18 33721133 33721133 single base substitution G C downstream_gene_variant BRCA-US 18 33721133 33721133 single base substitution G C exon_variant BRCA-US 18 33721133 33721133 single base substitution G C intron_variant BRCA-US 18 33721133 33721133 single base substitution G C missense_variant R160T 479G>C BRCA-US 18 33721133 33721133 single base substitution G C missense_variant R186T 557G>C BRCA-US 18 33721133 33721133 single base substitution G C missense_variant R225T 674G>C BRCA-US 18 33721133 33721133 single base substitution G C missense_variant R251T 752G>C BRCA-US 18 33721133 33721133 single base substitution G C missense_variant R37T 110G>C BRCA-US 18 33721133 33721133 single base substitution G C upstream_gene_variant BRCA-US 18 33722826 33722826 single base substitution C T downstream_gene_variant BRCA-US 18 33722826 33722826 single base substitution C T exon_variant BRCA-US 18 33722826 33722826 single base substitution C T intron_variant BRCA-US 18 33722826 33722826 single base substitution C T synonymous_variant C161C 483C>T BRCA-US 18 33722826 33722826 single base substitution C T synonymous_variant C205C 615C>T BRCA-US 18 33722826 33722826 single base substitution C T synonymous_variant C231C 693C>T BRCA-US 18 33722826 33722826 single base substitution C T synonymous_variant C270C 810C>T BRCA-US 18 33722826 33722826 single base substitution C T synonymous_variant C296C 888C>T BRCA-US 18 33726233 33726233 single base substitution T G downstream_gene_variant BRCA-US 18 33726233 33726233 single base substitution T G exon_variant BRCA-US 18 33726233 33726233 single base substitution T G intron_variant BRCA-US 18 33726233 33726233 single base substitution T G synonymous_variant G268G 804T>G BRCA-US 18 33726233 33726233 single base substitution T G synonymous_variant G312G 936T>G BRCA-US 18 33726233 33726233 single base substitution T G synonymous_variant G338G 1014T>G BRCA-US 18 33726233 33726233 single base substitution T G synonymous_variant G403G 1209T>G BRCA-US 18 33738853 33738853 single base substitution A C exon_variant BRCA-US 18 33738853 33738853 single base substitution A C intron_variant BRCA-US 18 33738853 33738853 single base substitution A C missense_variant K437T 1310A>C BRCA-US 18 33738853 33738853 single base substitution A C missense_variant K481T 1442A>C BRCA-US 18 33738853 33738853 single base substitution A C missense_variant K502T 1505A>C BRCA-US 18 33738853 33738853 single base substitution A C missense_variant K507T 1520A>C BRCA-US 18 33738853 33738853 single base substitution A C missense_variant K572T 1715A>C BRCA-US 18 33738853 33738853 single base substitution A C upstream_gene_variant BRCA-US 18 33750135 33750135 single base substitution G T 3_prime_UTR_variant BRCA-US 18 33750135 33750135 single base substitution G T downstream_gene_variant BRCA-US 18 33750135 33750135 single base substitution G T exon_variant BRCA-US 18 33750135 33750135 single base substitution G T missense_variant C659F 1976G>T BRCA-US 18 33750135 33750135 single base substitution G T missense_variant C703F 2108G>T BRCA-US 18 33750135 33750135 single base substitution G T missense_variant C724F 2171G>T BRCA-US 18 33750135 33750135 single base substitution G T missense_variant C729F 2186G>T BRCA-US 18 33750135 33750135 single base substitution G T missense_variant C794F 2381G>T BRCA-US 18 33750135 33750135 single base substitution G T upstream_gene_variant BRCA-US 18 33750147 33750147 single base substitution A C 3_prime_UTR_variant BRCA-US 18 33750147 33750147 single base substitution A C downstream_gene_variant BRCA-US 18 33750147 33750147 single base substitution A C exon_variant BRCA-US 18 33750147 33750147 single base substitution A C missense_variant H663P 1988A>C BRCA-US 18 33750147 33750147 single base substitution A C missense_variant H707P 2120A>C BRCA-US 18 33750147 33750147 single base substitution A C missense_variant H728P 2183A>C BRCA-US 18 33750147 33750147 single base substitution A C missense_variant H733P 2198A>C BRCA-US 18 33750147 33750147 single base substitution A C missense_variant H798P 2393A>C BRCA-US 18 33750147 33750147 single base substitution A C upstream_gene_variant BTCA-JP 18 33706611 33706611 single base substitution G A upstream_gene_variant BTCA-JP 18 33706928 33706928 single base substitution G A upstream_gene_variant BTCA-JP 18 33709755 33709755 deletion of <=200bp G - intron_variant BTCA-JP 18 33709755 33709755 deletion of <=200bp G - upstream_gene_variant BTCA-JP 18 33713184 33713184 single base substitution T C intron_variant BTCA-JP 18 33713184 33713184 single base substitution T C upstream_gene_variant BTCA-JP 18 33718315 33718315 single base substitution C T 3_prime_UTR_variant BTCA-JP 18 33718315 33718315 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant BTCA-JP 18 33718315 33718315 single base substitution C T downstream_gene_variant BTCA-JP 18 33718315 33718315 single base substitution C T exon_variant BTCA-JP 18 33718315 33718315 single base substitution C T intron_variant BTCA-JP 18 33718315 33718315 single base substitution C T missense_variant P124L 371C>T BTCA-JP 18 33718315 33718315 single base substitution C T upstream_gene_variant BTCA-JP 18 33736556 33736556 single base substitution G A exon_variant BTCA-JP 18 33736556 33736556 single base substitution G A intron_variant BTCA-JP 18 33736556 33736556 single base substitution G A missense_variant R398Q 1193G>A BTCA-JP 18 33736556 33736556 single base substitution G A missense_variant R442Q 1325G>A BTCA-JP 18 33736556 33736556 single base substitution G A missense_variant R463Q 1388G>A BTCA-JP 18 33736556 33736556 single base substitution G A missense_variant R468Q 1403G>A BTCA-JP 18 33736556 33736556 single base substitution G A missense_variant R533Q 1598G>A BTCA-JP 18 33736556 33736556 single base substitution G A upstream_gene_variant BTCA-JP 18 33750288 33750288 single base substitution G T intron_variant BTCA-JP 18 33750288 33750288 single base substitution G T upstream_gene_variant CESC-US 18 33706184 33706184 single base substitution C G upstream_gene_variant CESC-US 18 33713236 33713236 single base substitution C A 5_prime_UTR_variant CESC-US 18 33713236 33713236 single base substitution C A exon_variant CESC-US 18 33713236 33713236 single base substitution C A intron_variant CESC-US 18 33713236 33713236 single base substitution C A synonymous_variant T58T 174C>A CESC-US 18 33713236 33713236 single base substitution C A upstream_gene_variant CESC-US 18 33740957 33740957 single base substitution C T 3_prime_UTR_variant CESC-US 18 33740957 33740957 single base substitution C T exon_variant CESC-US 18 33740957 33740957 single base substitution C T intron_variant CESC-US 18 33740957 33740957 single base substitution C T missense_variant S514L 1541C>T CESC-US 18 33740957 33740957 single base substitution C T missense_variant S558L 1673C>T CESC-US 18 33740957 33740957 single base substitution C T missense_variant S579L 1736C>T CESC-US 18 33740957 33740957 single base substitution C T missense_variant S584L 1751C>T CESC-US 18 33740957 33740957 single base substitution C T missense_variant S649L 1946C>T CESC-US 18 33750155 33750155 single base substitution C T 3_prime_UTR_variant CESC-US 18 33750155 33750155 single base substitution C T downstream_gene_variant CESC-US 18 33750155 33750155 single base substitution C T exon_variant CESC-US 18 33750155 33750155 single base substitution C T stop_gained Q666* 1996C>T CESC-US 18 33750155 33750155 single base substitution C T stop_gained Q710* 2128C>T CESC-US 18 33750155 33750155 single base substitution C T stop_gained Q731* 2191C>T CESC-US 18 33750155 33750155 single base substitution C T stop_gained Q736* 2206C>T CESC-US 18 33750155 33750155 single base substitution C T stop_gained Q801* 2401C>T CESC-US 18 33750155 33750155 single base substitution C T upstream_gene_variant CLLE-ES 18 33725240 33725240 single base substitution T G downstream_gene_variant CLLE-ES 18 33725240 33725240 single base substitution T G exon_variant CLLE-ES 18 33725240 33725240 single base substitution T G intron_variant CLLE-ES 18 33727445 33727447 multiple base substitution (>=2bp and <=200bp) TCG CGT downstream_gene_variant CLLE-ES 18 33727445 33727447 multiple base substitution (>=2bp and <=200bp) TCG CGT intron_variant CLLE-ES 18 33743605 33743605 single base substitution T C intron_variant CLLE-ES 18 33743605 33743605 single base substitution T C upstream_gene_variant CLLE-ES 18 33746151 33746151 single base substitution G A downstream_gene_variant CLLE-ES 18 33746151 33746151 single base substitution G A intron_variant CLLE-ES 18 33746151 33746151 single base substitution G A upstream_gene_variant COAD-US 18 33718822 33718822 single base substitution G A 3_prime_UTR_variant COAD-US 18 33718822 33718822 single base substitution G A downstream_gene_variant COAD-US 18 33718822 33718822 single base substitution G A exon_variant COAD-US 18 33718822 33718822 single base substitution G A intron_variant COAD-US 18 33718822 33718822 single base substitution G A synonymous_variant L170L 510G>A COAD-US 18 33718822 33718822 single base substitution G A synonymous_variant L21L 63G>A COAD-US 18 33718822 33718822 single base substitution G A upstream_gene_variant COAD-US 18 33734811 33734812 deletion of <=200bp AG - intron_variant COAD-US 18 33734811 33734812 deletion of <=200bp AG - splice_acceptor_variant COAD-US 18 33734811 33734812 deletion of <=200bp AG - upstream_gene_variant COAD-US 18 33740913 33740913 single base substitution A C 3_prime_UTR_variant COAD-US 18 33740913 33740913 single base substitution A C exon_variant COAD-US 18 33740913 33740913 single base substitution A C intron_variant COAD-US 18 33740913 33740913 single base substitution A C missense_variant E499D 1497A>C COAD-US 18 33740913 33740913 single base substitution A C missense_variant E543D 1629A>C COAD-US 18 33740913 33740913 single base substitution A C missense_variant E564D 1692A>C COAD-US 18 33740913 33740913 single base substitution A C missense_variant E569D 1707A>C COAD-US 18 33740913 33740913 single base substitution A C missense_variant E634D 1902A>C COAD-US 18 33750046 33750046 single base substitution C T 3_prime_UTR_variant COAD-US 18 33750046 33750046 single base substitution C T downstream_gene_variant COAD-US 18 33750046 33750046 single base substitution C T exon_variant COAD-US 18 33750046 33750046 single base substitution C T synonymous_variant C629C 1887C>T COAD-US 18 33750046 33750046 single base substitution C T synonymous_variant C673C 2019C>T COAD-US 18 33750046 33750046 single base substitution C T synonymous_variant C694C 2082C>T COAD-US 18 33750046 33750046 single base substitution C T synonymous_variant C699C 2097C>T COAD-US 18 33750046 33750046 single base substitution C T synonymous_variant C764C 2292C>T COAD-US 18 33750046 33750046 single base substitution C T upstream_gene_variant COCA-CN 18 33704770 33704770 single base substitution G T upstream_gene_variant COCA-CN 18 33716286 33716286 single base substitution A C 5_prime_UTR_variant COCA-CN 18 33716286 33716286 single base substitution A C exon_variant COCA-CN 18 33716286 33716286 single base substitution A C missense_variant L78F 234A>C COCA-CN 18 33716286 33716286 single base substitution A C upstream_gene_variant COCA-CN 18 33718124 33718124 single base substitution T C downstream_gene_variant COCA-CN 18 33718124 33718124 single base substitution T C exon_variant COCA-CN 18 33718124 33718124 single base substitution T C intron_variant COCA-CN 18 33718124 33718124 single base substitution T C upstream_gene_variant COCA-CN 18 33721344 33721344 single base substitution G A downstream_gene_variant COCA-CN 18 33721344 33721344 single base substitution G A exon_variant COCA-CN 18 33721344 33721344 single base substitution G A intron_variant COCA-CN 18 33722153 33722153 single base substitution G A downstream_gene_variant COCA-CN 18 33722153 33722153 single base substitution G A intron_variant COCA-CN 18 33726015 33726015 single base substitution A C downstream_gene_variant COCA-CN 18 33726015 33726015 single base substitution A C intron_variant COCA-CN 18 33726015 33726015 single base substitution A C splice_region_variant COCA-CN 18 33726229 33726229 single base substitution T C downstream_gene_variant COCA-CN 18 33726229 33726229 single base substitution T C exon_variant COCA-CN 18 33726229 33726229 single base substitution T C intron_variant COCA-CN 18 33726229 33726229 single base substitution T C missense_variant V267A 800T>C COCA-CN 18 33726229 33726229 single base substitution T C missense_variant V311A 932T>C COCA-CN 18 33726229 33726229 single base substitution T C missense_variant V337A 1010T>C COCA-CN 18 33726229 33726229 single base substitution T C missense_variant V402A 1205T>C COCA-CN 18 33726238 33726238 single base substitution A C downstream_gene_variant COCA-CN 18 33726238 33726238 single base substitution A C exon_variant COCA-CN 18 33726238 33726238 single base substitution A C intron_variant COCA-CN 18 33726238 33726238 single base substitution A C missense_variant N270T 809A>C COCA-CN 18 33726238 33726238 single base substitution A C missense_variant N314T 941A>C COCA-CN 18 33726238 33726238 single base substitution A C missense_variant N340T 1019A>C COCA-CN 18 33726238 33726238 single base substitution A C missense_variant N405T 1214A>C COCA-CN 18 33726390 33726390 single base substitution A G downstream_gene_variant COCA-CN 18 33726390 33726390 single base substitution A G intron_variant COCA-CN 18 33736456 33736456 single base substitution C A exon_variant COCA-CN 18 33736456 33736456 single base substitution C A intron_variant COCA-CN 18 33736456 33736456 single base substitution C A missense_variant Q365K 1093C>A COCA-CN 18 33736456 33736456 single base substitution C A missense_variant Q409K 1225C>A COCA-CN 18 33736456 33736456 single base substitution C A missense_variant Q430K 1288C>A COCA-CN 18 33736456 33736456 single base substitution C A missense_variant Q435K 1303C>A COCA-CN 18 33736456 33736456 single base substitution C A missense_variant Q500K 1498C>A COCA-CN 18 33736456 33736456 single base substitution C A upstream_gene_variant COCA-CN 18 33744422 33744422 single base substitution C A intron_variant COCA-CN 18 33744422 33744422 single base substitution C A upstream_gene_variant COCA-CN 18 33747078 33747078 single base substitution C A 3_prime_UTR_variant COCA-CN 18 33747078 33747078 single base substitution C A downstream_gene_variant COCA-CN 18 33747078 33747078 single base substitution C A exon_variant COCA-CN 18 33747078 33747078 single base substitution C A intron_variant COCA-CN 18 33747078 33747078 single base substitution C A missense_variant L587I 1759C>A COCA-CN 18 33747078 33747078 single base substitution C A missense_variant L631I 1891C>A COCA-CN 18 33747078 33747078 single base substitution C A missense_variant L652I 1954C>A COCA-CN 18 33747078 33747078 single base substitution C A missense_variant L657I 1969C>A COCA-CN 18 33747078 33747078 single base substitution C A missense_variant L722I 2164C>A COCA-CN 18 33747078 33747078 single base substitution C A upstream_gene_variant COCA-CN 18 33754346 33754346 single base substitution G A intron_variant COCA-CN 18 33754636 33754636 single base substitution G T 3_prime_UTR_variant COCA-CN 18 33754636 33754636 single base substitution G T downstream_gene_variant COCA-CN 18 33754636 33754636 single base substitution G T exon_variant EOPC-DE 18 33707742 33707742 single base substitution T G upstream_gene_variant ESAD-UK 18 33708447 33708447 single base substitution C T upstream_gene_variant ESAD-UK 18 33708897 33708897 single base substitution T C upstream_gene_variant ESAD-UK 18 33713704 33713704 single base substitution T A intron_variant ESAD-UK 18 33713704 33713704 single base substitution T A upstream_gene_variant ESAD-UK 18 33714024 33714024 single base substitution C T intron_variant ESAD-UK 18 33714024 33714024 single base substitution C T upstream_gene_variant ESAD-UK 18 33715701 33715701 single base substitution C T intron_variant ESAD-UK 18 33715701 33715701 single base substitution C T upstream_gene_variant ESAD-UK 18 33724901 33724901 single base substitution G C downstream_gene_variant ESAD-UK 18 33724901 33724901 single base substitution G C intron_variant ESAD-UK 18 33724901 33724901 single base substitution G C splice_acceptor_variant ESAD-UK 18 33725074 33725074 single base substitution G T downstream_gene_variant ESAD-UK 18 33725074 33725074 single base substitution G T exon_variant ESAD-UK 18 33725074 33725074 single base substitution G T intron_variant ESAD-UK 18 33725573 33725573 single base substitution C T downstream_gene_variant ESAD-UK 18 33725573 33725573 single base substitution C T intron_variant ESAD-UK 18 33726256 33726256 single base substitution A T downstream_gene_variant ESAD-UK 18 33726256 33726256 single base substitution A T exon_variant ESAD-UK 18 33726256 33726256 single base substitution A T intron_variant ESAD-UK 18 33726256 33726256 single base substitution A T missense_variant D276V 827A>T ESAD-UK 18 33726256 33726256 single base substitution A T missense_variant D320V 959A>T ESAD-UK 18 33726256 33726256 single base substitution A T missense_variant D346V 1037A>T ESAD-UK 18 33726256 33726256 single base substitution A T missense_variant D411V 1232A>T ESAD-UK 18 33727790 33727790 single base substitution A T downstream_gene_variant ESAD-UK 18 33727790 33727790 single base substitution A T intron_variant ESAD-UK 18 33727820 33727820 deletion of <=200bp T - downstream_gene_variant ESAD-UK 18 33727820 33727820 deletion of <=200bp T - intron_variant ESAD-UK 18 33730271 33730271 single base substitution C T downstream_gene_variant ESAD-UK 18 33730271 33730271 single base substitution C T intron_variant ESAD-UK 18 33730271 33730271 single base substitution C T upstream_gene_variant ESAD-UK 18 33733845 33733845 single base substitution C T intron_variant ESAD-UK 18 33733845 33733845 single base substitution C T upstream_gene_variant ESAD-UK 18 33735350 33735350 single base substitution C T intron_variant ESAD-UK 18 33735350 33735350 single base substitution C T upstream_gene_variant ESAD-UK 18 33741943 33741943 deletion of <=200bp T - intron_variant ESAD-UK 18 33741943 33741943 deletion of <=200bp T - upstream_gene_variant ESAD-UK 18 33743655 33743655 deletion of <=200bp T - intron_variant ESAD-UK 18 33743655 33743655 deletion of <=200bp T - upstream_gene_variant ESAD-UK 18 33743958 33743958 single base substitution T C intron_variant ESAD-UK 18 33743958 33743958 single base substitution T C upstream_gene_variant ESAD-UK 18 33745469 33745469 single base substitution T C downstream_gene_variant ESAD-UK 18 33745469 33745469 single base substitution T C intron_variant ESAD-UK 18 33745469 33745469 single base substitution T C upstream_gene_variant ESAD-UK 18 33750363 33750363 single base substitution C T intron_variant ESAD-UK 18 33750363 33750363 single base substitution C T upstream_gene_variant ESAD-UK 18 33750604 33750604 single base substitution A G intron_variant ESAD-UK 18 33750604 33750604 single base substitution A G upstream_gene_variant ESAD-UK 18 33753209 33753209 single base substitution G T intron_variant ESAD-UK 18 33754437 33754437 single base substitution C T intron_variant ESAD-UK 18 33754586 33754586 single base substitution C G 3_prime_UTR_variant ESAD-UK 18 33754586 33754586 single base substitution C G downstream_gene_variant ESAD-UK 18 33754586 33754586 single base substitution C G exon_variant ESAD-UK 18 33754586 33754586 single base substitution C G synonymous_variant V751V 2253C>G ESAD-UK 18 33754586 33754586 single base substitution C G synonymous_variant V795V 2385C>G ESAD-UK 18 33754586 33754586 single base substitution C G synonymous_variant V816V 2448C>G ESAD-UK 18 33754586 33754586 single base substitution C G synonymous_variant V821V 2463C>G ESAD-UK 18 33754586 33754586 single base substitution C G synonymous_variant V886V 2658C>G ESAD-UK 18 33758603 33758603 single base substitution T C downstream_gene_variant ESAD-UK 18 33759059 33759059 single base substitution A G downstream_gene_variant ESAD-UK 18 33759929 33759929 single base substitution T C downstream_gene_variant ESAD-UK 18 33761628 33761628 single base substitution A G downstream_gene_variant ESAD-UK 18 33762109 33762109 single base substitution C T downstream_gene_variant GBM-US 18 33740957 33740957 single base substitution C G 3_prime_UTR_variant GBM-US 18 33740957 33740957 single base substitution C G exon_variant GBM-US 18 33740957 33740957 single base substitution C G intron_variant GBM-US 18 33740957 33740957 single base substitution C G stop_gained S514* 1541C>G GBM-US 18 33740957 33740957 single base substitution C G stop_gained S558* 1673C>G GBM-US 18 33740957 33740957 single base substitution C G stop_gained S579* 1736C>G GBM-US 18 33740957 33740957 single base substitution C G stop_gained S584* 1751C>G GBM-US 18 33740957 33740957 single base substitution C G stop_gained S649* 1946C>G KIRC-US 18 33706569 33706569 single base substitution A C upstream_gene_variant KIRC-US 18 33706899 33706899 single base substitution T C upstream_gene_variant KIRC-US 18 33709981 33709981 single base substitution A T exon_variant KIRC-US 18 33709981 33709981 single base substitution A T intron_variant KIRC-US 18 33709981 33709981 single base substitution A T stop_gained R29* 85A>T KIRC-US 18 33734957 33734957 single base substitution T G exon_variant KIRC-US 18 33734957 33734957 single base substitution T G intron_variant KIRC-US 18 33734957 33734957 single base substitution T G missense_variant S354A 1060T>G KIRC-US 18 33734957 33734957 single base substitution T G missense_variant S398A 1192T>G KIRC-US 18 33734957 33734957 single base substitution T G missense_variant S419A 1255T>G KIRC-US 18 33734957 33734957 single base substitution T G missense_variant S424A 1270T>G KIRC-US 18 33734957 33734957 single base substitution T G missense_variant S489A 1465T>G KIRC-US 18 33734957 33734957 single base substitution T G upstream_gene_variant KIRC-US 18 33750159 33750159 single base substitution G T downstream_gene_variant KIRC-US 18 33750159 33750159 single base substitution G T missense_variant R667L 2000G>T KIRC-US 18 33750159 33750159 single base substitution G T missense_variant R711L 2132G>T KIRC-US 18 33750159 33750159 single base substitution G T missense_variant R732L 2195G>T KIRC-US 18 33750159 33750159 single base substitution G T missense_variant R737L 2210G>T KIRC-US 18 33750159 33750159 single base substitution G T missense_variant R802L 2405G>T KIRC-US 18 33750159 33750159 single base substitution G T splice_region_variant KIRC-US 18 33750159 33750159 single base substitution G T upstream_gene_variant LAML-KR 18 33744677 33744677 single base substitution T C downstream_gene_variant LAML-KR 18 33744677 33744677 single base substitution T C exon_variant LAML-KR 18 33744677 33744677 single base substitution T C intron_variant LAML-KR 18 33744677 33744677 single base substitution T C upstream_gene_variant LGG-US 18 33706819 33706819 single base substitution G C upstream_gene_variant LGG-US 18 33739707 33739707 single base substitution C T exon_variant LGG-US 18 33739707 33739707 single base substitution C T intron_variant LGG-US 18 33739707 33739707 single base substitution C T missense_variant A445V 1334C>T LGG-US 18 33739707 33739707 single base substitution C T missense_variant A489V 1466C>T LGG-US 18 33739707 33739707 single base substitution C T missense_variant A510V 1529C>T LGG-US 18 33739707 33739707 single base substitution C T missense_variant A515V 1544C>T LGG-US 18 33739707 33739707 single base substitution C T missense_variant A580V 1739C>T LGG-US 18 33739707 33739707 single base substitution C T upstream_gene_variant LIAD-FR 18 33726230 33726230 single base substitution A G downstream_gene_variant LIAD-FR 18 33726230 33726230 single base substitution A G exon_variant LIAD-FR 18 33726230 33726230 single base substitution A G intron_variant LIAD-FR 18 33726230 33726230 single base substitution A G synonymous_variant V267V 801A>G LIAD-FR 18 33726230 33726230 single base substitution A G synonymous_variant V311V 933A>G LIAD-FR 18 33726230 33726230 single base substitution A G synonymous_variant V337V 1011A>G LIAD-FR 18 33726230 33726230 single base substitution A G synonymous_variant V402V 1206A>G LICA-CN 18 33713204 33713204 single base substitution A T 5_prime_UTR_premature_start_codon_gain_variant LICA-CN 18 33713204 33713204 single base substitution A T exon_variant LICA-CN 18 33713204 33713204 single base substitution A T intron_variant LICA-CN 18 33713204 33713204 single base substitution A T missense_variant R48W 142A>T LICA-CN 18 33713204 33713204 single base substitution A T upstream_gene_variant LICA-CN 18 33722272 33722272 single base substitution A G 3_prime_UTR_variant LICA-CN 18 33722272 33722272 single base substitution A G downstream_gene_variant LICA-CN 18 33722272 33722272 single base substitution A G exon_variant LICA-CN 18 33722272 33722272 single base substitution A G intron_variant LICA-CN 18 33722272 33722272 single base substitution A G missense_variant H180R 539A>G LICA-CN 18 33722272 33722272 single base substitution A G missense_variant H206R 617A>G LICA-CN 18 33722272 33722272 single base substitution A G missense_variant H245R 734A>G LICA-CN 18 33722272 33722272 single base substitution A G missense_variant H271R 812A>G LICA-CN 18 33722272 33722272 single base substitution A G missense_variant H57R 170A>G LICA-FR 18 33706625 33706625 single base substitution G A upstream_gene_variant LICA-FR 18 33707742 33707742 insertion of <=200bp - T upstream_gene_variant LICA-FR 18 33710012 33710012 single base substitution C G exon_variant LICA-FR 18 33710012 33710012 single base substitution C G intron_variant LICA-FR 18 33710012 33710012 single base substitution C G missense_variant S39C 116C>G LICA-FR 18 33718248 33718248 single base substitution C A 3_prime_UTR_variant LICA-FR 18 33718248 33718248 single base substitution C A 5_prime_UTR_variant LICA-FR 18 33718248 33718248 single base substitution C A downstream_gene_variant LICA-FR 18 33718248 33718248 single base substitution C A exon_variant LICA-FR 18 33718248 33718248 single base substitution C A intron_variant LICA-FR 18 33718248 33718248 single base substitution C A missense_variant H102N 304C>A LICA-FR 18 33718248 33718248 single base substitution C A upstream_gene_variant LICA-FR 18 33736497 33736497 single base substitution T A exon_variant LICA-FR 18 33736497 33736497 single base substitution T A intron_variant LICA-FR 18 33736497 33736497 single base substitution T A missense_variant N378K 1134T>A LICA-FR 18 33736497 33736497 single base substitution T A missense_variant N422K 1266T>A LICA-FR 18 33736497 33736497 single base substitution T A missense_variant N443K 1329T>A LICA-FR 18 33736497 33736497 single base substitution T A missense_variant N448K 1344T>A LICA-FR 18 33736497 33736497 single base substitution T A missense_variant N513K 1539T>A LICA-FR 18 33736497 33736497 single base substitution T A upstream_gene_variant LICA-FR 18 33747146 33747146 single base substitution T C 3_prime_UTR_variant LICA-FR 18 33747146 33747146 single base substitution T C downstream_gene_variant LICA-FR 18 33747146 33747146 single base substitution T C exon_variant LICA-FR 18 33747146 33747146 single base substitution T C synonymous_variant P609P 1827T>C LICA-FR 18 33747146 33747146 single base substitution T C synonymous_variant P653P 1959T>C LICA-FR 18 33747146 33747146 single base substitution T C synonymous_variant P674P 2022T>C LICA-FR 18 33747146 33747146 single base substitution T C synonymous_variant P679P 2037T>C LICA-FR 18 33747146 33747146 single base substitution T C synonymous_variant P744P 2232T>C LICA-FR 18 33747146 33747146 single base substitution T C upstream_gene_variant LINC-JP 18 33705885 33705885 single base substitution T C upstream_gene_variant LINC-JP 18 33706029 33706029 single base substitution T A upstream_gene_variant LINC-JP 18 33706994 33706994 deletion of <=200bp A - upstream_gene_variant LINC-JP 18 33709811 33709811 single base substitution G A intron_variant LINC-JP 18 33709811 33709811 single base substitution G A upstream_gene_variant LINC-JP 18 33710565 33710565 deletion of <=200bp G - intron_variant LINC-JP 18 33718294 33718294 deletion of <=200bp A - 3_prime_UTR_variant LINC-JP 18 33718294 33718294 deletion of <=200bp A - 5_prime_UTR_variant LINC-JP 18 33718294 33718294 deletion of <=200bp A - downstream_gene_variant LINC-JP 18 33718294 33718294 deletion of <=200bp A - exon_variant LINC-JP 18 33718294 33718294 deletion of <=200bp A - frameshift_variant Y117 LINC-JP 18 33718294 33718294 deletion of <=200bp A - intron_variant LINC-JP 18 33718294 33718294 deletion of <=200bp A - upstream_gene_variant LINC-JP 18 33722042 33722042 single base substitution C A downstream_gene_variant LINC-JP 18 33722042 33722042 single base substitution C A intron_variant LINC-JP 18 33722342 33722342 single base substitution A G downstream_gene_variant LINC-JP 18 33722342 33722342 single base substitution A G intron_variant LINC-JP 18 33724910 33724910 single base substitution A G downstream_gene_variant LINC-JP 18 33724910 33724910 single base substitution A G exon_variant LINC-JP 18 33724910 33724910 single base substitution A G intron_variant LINC-JP 18 33724910 33724910 single base substitution A G missense_variant I199V 595A>G LINC-JP 18 33724910 33724910 single base substitution A G missense_variant I243V 727A>G LINC-JP 18 33724910 33724910 single base substitution A G missense_variant I269V 805A>G LINC-JP 18 33724910 33724910 single base substitution A G missense_variant I308V 922A>G LINC-JP 18 33724910 33724910 single base substitution A G missense_variant I334V 1000A>G LINC-JP 18 33724949 33724949 single base substitution C T downstream_gene_variant LINC-JP 18 33724949 33724949 single base substitution C T exon_variant LINC-JP 18 33724949 33724949 single base substitution C T intron_variant LINC-JP 18 33724949 33724949 single base substitution C T missense_variant H212Y 634C>T LINC-JP 18 33724949 33724949 single base substitution C T missense_variant H256Y 766C>T LINC-JP 18 33724949 33724949 single base substitution C T missense_variant H282Y 844C>T LINC-JP 18 33724949 33724949 single base substitution C T missense_variant H321Y 961C>T LINC-JP 18 33724949 33724949 single base substitution C T missense_variant H347Y 1039C>T LINC-JP 18 33726084 33726084 single base substitution G C downstream_gene_variant LINC-JP 18 33726084 33726084 single base substitution G C intron_variant LINC-JP 18 33726118 33726118 single base substitution A G downstream_gene_variant LINC-JP 18 33726118 33726118 single base substitution A G intron_variant LINC-JP 18 33731501 33731501 single base substitution C T intron_variant LINC-JP 18 33731501 33731501 single base substitution C T upstream_gene_variant LINC-JP 18 33731922 33731922 single base substitution A G intron_variant LINC-JP 18 33731922 33731922 single base substitution A G upstream_gene_variant LINC-JP 18 33735478 33735478 single base substitution A G intron_variant LINC-JP 18 33735478 33735478 single base substitution A G upstream_gene_variant LINC-JP 18 33739828 33739828 single base substitution A G intron_variant LINC-JP 18 33739828 33739828 single base substitution A G upstream_gene_variant LINC-JP 18 33744530 33744530 single base substitution G A downstream_gene_variant LINC-JP 18 33744530 33744530 single base substitution G A exon_variant LINC-JP 18 33744530 33744530 single base substitution G A intron_variant LINC-JP 18 33744530 33744530 single base substitution G A synonymous_variant T548T 1644G>A LINC-JP 18 33744530 33744530 single base substitution G A synonymous_variant T592T 1776G>A LINC-JP 18 33744530 33744530 single base substitution G A synonymous_variant T613T 1839G>A LINC-JP 18 33744530 33744530 single base substitution G A synonymous_variant T618T 1854G>A LINC-JP 18 33744530 33744530 single base substitution G A synonymous_variant T683T 2049G>A LINC-JP 18 33744530 33744530 single base substitution G A upstream_gene_variant LINC-JP 18 33744683 33744683 single base substitution T C downstream_gene_variant LINC-JP 18 33744683 33744683 single base substitution T C exon_variant LINC-JP 18 33744683 33744683 single base substitution T C intron_variant LINC-JP 18 33744683 33744683 single base substitution T C upstream_gene_variant LINC-JP 18 33752061 33752061 single base substitution C G intron_variant LINC-JP 18 33757263 33757263 single base substitution C G 3_prime_UTR_variant LINC-JP 18 33757263 33757263 single base substitution C G downstream_gene_variant LIRI-JP 18 33704943 33704943 single base substitution T C upstream_gene_variant LIRI-JP 18 33705922 33705922 single base substitution T C upstream_gene_variant LIRI-JP 18 33706183 33706183 single base substitution T A upstream_gene_variant LIRI-JP 18 33710102 33710102 single base substitution G T intron_variant LIRI-JP 18 33710695 33710695 single base substitution C A intron_variant LIRI-JP 18 33711059 33711059 single base substitution C T intron_variant LIRI-JP 18 33712774 33712774 deletion of <=200bp G - intron_variant LIRI-JP 18 33712774 33712774 deletion of <=200bp G - upstream_gene_variant LIRI-JP 18 33712849 33712857 deletion of <=200bp GGAAGCAGC - intron_variant LIRI-JP 18 33712849 33712857 deletion of <=200bp GGAAGCAGC - upstream_gene_variant LIRI-JP 18 33714360 33714360 single base substitution A G intron_variant LIRI-JP 18 33714360 33714360 single base substitution A G upstream_gene_variant LIRI-JP 18 33714989 33714989 single base substitution A G intron_variant LIRI-JP 18 33714989 33714989 single base substitution A G upstream_gene_variant LIRI-JP 18 33715068 33715068 single base substitution A G intron_variant LIRI-JP 18 33715068 33715068 single base substitution A G upstream_gene_variant LIRI-JP 18 33715086 33715086 single base substitution A G intron_variant LIRI-JP 18 33715086 33715086 single base substitution A G upstream_gene_variant LIRI-JP 18 33715427 33715427 single base substitution A G intron_variant LIRI-JP 18 33715427 33715427 single base substitution A G upstream_gene_variant LIRI-JP 18 33715459 33715459 single base substitution A G intron_variant LIRI-JP 18 33715459 33715459 single base substitution A G upstream_gene_variant LIRI-JP 18 33717347 33717347 single base substitution A G downstream_gene_variant LIRI-JP 18 33717347 33717347 single base substitution A G intron_variant LIRI-JP 18 33717347 33717347 single base substitution A G upstream_gene_variant LIRI-JP 18 33717448 33717448 single base substitution A G downstream_gene_variant LIRI-JP 18 33717448 33717448 single base substitution A G intron_variant LIRI-JP 18 33717448 33717448 single base substitution A G upstream_gene_variant LIRI-JP 18 33717968 33717968 single base substitution A G downstream_gene_variant LIRI-JP 18 33717968 33717968 single base substitution A G intron_variant LIRI-JP 18 33717968 33717968 single base substitution A G upstream_gene_variant LIRI-JP 18 33719301 33719331 deletion of <=200bp AAACCCATCTGTATTTATCTTTGAGTATCTT - downstream_gene_variant LIRI-JP 18 33719301 33719331 deletion of <=200bp AAACCCATCTGTATTTATCTTTGAGTATCTT - intron_variant LIRI-JP 18 33719301 33719331 deletion of <=200bp AAACCCATCTGTATTTATCTTTGAGTATCTT - upstream_gene_variant LIRI-JP 18 33719493 33719493 single base substitution T A downstream_gene_variant LIRI-JP 18 33719493 33719493 single base substitution T A exon_variant LIRI-JP 18 33719493 33719493 single base substitution T A intron_variant LIRI-JP 18 33719493 33719493 single base substitution T A missense_variant L186Q 557T>A LIRI-JP 18 33719493 33719493 single base substitution T A missense_variant L212Q 635T>A LIRI-JP 18 33719493 33719493 single base substitution T A upstream_gene_variant LIRI-JP 18 33722623 33722623 single base substitution A G downstream_gene_variant LIRI-JP 18 33722623 33722623 single base substitution A G intron_variant LIRI-JP 18 33723296 33723296 single base substitution G C downstream_gene_variant LIRI-JP 18 33723296 33723296 single base substitution G C intron_variant LIRI-JP 18 33723304 33723304 single base substitution C T downstream_gene_variant LIRI-JP 18 33723304 33723304 single base substitution C T intron_variant LIRI-JP 18 33724333 33724333 single base substitution A G downstream_gene_variant LIRI-JP 18 33724333 33724333 single base substitution A G intron_variant LIRI-JP 18 33728689 33728689 single base substitution C G downstream_gene_variant LIRI-JP 18 33728689 33728689 single base substitution C G intron_variant LIRI-JP 18 33731770 33731770 single base substitution G T intron_variant LIRI-JP 18 33731770 33731770 single base substitution G T upstream_gene_variant LIRI-JP 18 33731922 33731922 single base substitution A G intron_variant LIRI-JP 18 33731922 33731922 single base substitution A G upstream_gene_variant LIRI-JP 18 33733197 33733197 single base substitution C A intron_variant LIRI-JP 18 33733197 33733197 single base substitution C A upstream_gene_variant LIRI-JP 18 33734059 33734059 single base substitution A G intron_variant LIRI-JP 18 33734059 33734059 single base substitution A G upstream_gene_variant LIRI-JP 18 33735023 33735023 single base substitution T G intron_variant LIRI-JP 18 33735023 33735023 single base substitution T G upstream_gene_variant LIRI-JP 18 33737698 33737698 single base substitution T G intron_variant LIRI-JP 18 33737698 33737698 single base substitution T G upstream_gene_variant LIRI-JP 18 33741169 33741169 single base substitution A G intron_variant LIRI-JP 18 33744935 33744935 single base substitution A G downstream_gene_variant LIRI-JP 18 33744935 33744935 single base substitution A G exon_variant LIRI-JP 18 33744935 33744935 single base substitution A G intron_variant LIRI-JP 18 33744935 33744935 single base substitution A G upstream_gene_variant LIRI-JP 18 33748234 33748234 single base substitution C T downstream_gene_variant LIRI-JP 18 33748234 33748234 single base substitution C T intron_variant LIRI-JP 18 33748234 33748234 single base substitution C T upstream_gene_variant LIRI-JP 18 33748583 33748583 single base substitution C T downstream_gene_variant LIRI-JP 18 33748583 33748583 single base substitution C T intron_variant LIRI-JP 18 33748583 33748583 single base substitution C T upstream_gene_variant LIRI-JP 18 33748585 33748585 single base substitution C T downstream_gene_variant LIRI-JP 18 33748585 33748585 single base substitution C T intron_variant LIRI-JP 18 33748585 33748585 single base substitution C T upstream_gene_variant LIRI-JP 18 33748739 33748739 single base substitution G A downstream_gene_variant LIRI-JP 18 33748739 33748739 single base substitution G A intron_variant LIRI-JP 18 33748739 33748739 single base substitution G A upstream_gene_variant LIRI-JP 18 33750021 33750021 single base substitution A G downstream_gene_variant LIRI-JP 18 33750021 33750021 single base substitution A G exon_variant LIRI-JP 18 33750021 33750021 single base substitution A G splice_region_variant LIRI-JP 18 33750021 33750021 single base substitution A G upstream_gene_variant LIRI-JP 18 33750367 33750367 single base substitution T A intron_variant LIRI-JP 18 33750367 33750367 single base substitution T A upstream_gene_variant LIRI-JP 18 33751780 33751780 single base substitution A G intron_variant LIRI-JP 18 33751969 33751969 single base substitution C G intron_variant LIRI-JP 18 33753611 33753611 single base substitution C T intron_variant LIRI-JP 18 33753643 33753643 single base substitution A G intron_variant LIRI-JP 18 33754431 33754431 single base substitution C T intron_variant LIRI-JP 18 33754431 33754437 deletion of <=200bp CTCTATC - intron_variant LIRI-JP 18 33754652 33754652 single base substitution A G 3_prime_UTR_variant LIRI-JP 18 33754652 33754652 single base substitution A G downstream_gene_variant LIRI-JP 18 33754652 33754652 single base substitution A G exon_variant LIRI-JP 18 33755089 33755089 single base substitution T C 3_prime_UTR_variant LIRI-JP 18 33755089 33755089 single base substitution T C downstream_gene_variant LIRI-JP 18 33755389 33755389 single base substitution C T 3_prime_UTR_variant LIRI-JP 18 33755389 33755389 single base substitution C T downstream_gene_variant LIRI-JP 18 33756058 33756058 single base substitution A G 3_prime_UTR_variant LIRI-JP 18 33756058 33756058 single base substitution A G downstream_gene_variant LIRI-JP 18 33759010 33759010 single base substitution T C downstream_gene_variant LIRI-JP 18 33760763 33760763 single base substitution A G downstream_gene_variant LIRI-JP 18 33761472 33761472 single base substitution A T downstream_gene_variant LUSC-KR 18 33705370 33705370 single base substitution T A upstream_gene_variant LUSC-KR 18 33706303 33706303 single base substitution G A upstream_gene_variant LUSC-KR 18 33709245 33709245 single base substitution G A upstream_gene_variant LUSC-KR 18 33709282 33709282 single base substitution G C upstream_gene_variant LUSC-KR 18 33709778 33709778 single base substitution G T intron_variant LUSC-KR 18 33709778 33709778 single base substitution G T upstream_gene_variant LUSC-KR 18 33710091 33710091 single base substitution G T intron_variant LUSC-KR 18 33714677 33714677 single base substitution A G intron_variant LUSC-KR 18 33714677 33714677 single base substitution A G upstream_gene_variant LUSC-KR 18 33721325 33721325 single base substitution C T downstream_gene_variant LUSC-KR 18 33721325 33721325 single base substitution C T intron_variant LUSC-KR 18 33721325 33721325 single base substitution C T upstream_gene_variant LUSC-KR 18 33728815 33728815 single base substitution G T downstream_gene_variant LUSC-KR 18 33728815 33728815 single base substitution G T intron_variant LUSC-KR 18 33729571 33729571 single base substitution G T downstream_gene_variant LUSC-KR 18 33729571 33729571 single base substitution G T intron_variant LUSC-KR 18 33731056 33731056 single base substitution C T downstream_gene_variant LUSC-KR 18 33731056 33731056 single base substitution C T intron_variant LUSC-KR 18 33731056 33731056 single base substitution C T upstream_gene_variant LUSC-KR 18 33731491 33731491 single base substitution G T intron_variant LUSC-KR 18 33731491 33731491 single base substitution G T upstream_gene_variant LUSC-KR 18 33731868 33731868 single base substitution G A intron_variant LUSC-KR 18 33731868 33731868 single base substitution G A upstream_gene_variant LUSC-KR 18 33732997 33732997 single base substitution G C intron_variant LUSC-KR 18 33732997 33732997 single base substitution G C upstream_gene_variant LUSC-KR 18 33738902 33738902 single base substitution A G intron_variant LUSC-KR 18 33738902 33738902 single base substitution A G upstream_gene_variant LUSC-KR 18 33740905 33740905 single base substitution G T exon_variant LUSC-KR 18 33740905 33740905 single base substitution G T intron_variant LUSC-KR 18 33740905 33740905 single base substitution G T missense_variant G497C 1489G>T LUSC-KR 18 33740905 33740905 single base substitution G T missense_variant G541C 1621G>T LUSC-KR 18 33740905 33740905 single base substitution G T missense_variant G562C 1684G>T LUSC-KR 18 33740905 33740905 single base substitution G T missense_variant G567C 1699G>T LUSC-KR 18 33740905 33740905 single base substitution G T missense_variant G632C 1894G>T LUSC-KR 18 33744992 33744992 single base substitution A T downstream_gene_variant LUSC-KR 18 33744992 33744992 single base substitution A T exon_variant LUSC-KR 18 33744992 33744992 single base substitution A T intron_variant LUSC-KR 18 33744992 33744992 single base substitution A T upstream_gene_variant LUSC-KR 18 33750799 33750799 single base substitution G T intron_variant LUSC-KR 18 33750799 33750799 single base substitution G T upstream_gene_variant LUSC-KR 18 33753348 33753348 single base substitution G C intron_variant LUSC-KR 18 33755124 33755124 single base substitution G C 3_prime_UTR_variant LUSC-KR 18 33755124 33755124 single base substitution G C downstream_gene_variant LUSC-KR 18 33760571 33760571 single base substitution T A downstream_gene_variant LUSC-KR 18 33761275 33761275 single base substitution A G downstream_gene_variant LUSC-US 18 33706432 33706432 single base substitution T A upstream_gene_variant LUSC-US 18 33706701 33706701 single base substitution G T upstream_gene_variant LUSC-US 18 33710009 33710009 single base substitution G T exon_variant LUSC-US 18 33710009 33710009 single base substitution G T intron_variant LUSC-US 18 33710009 33710009 single base substitution G T missense_variant C38F 113G>T LUSC-US 18 33722805 33722805 single base substitution A T 3_prime_UTR_variant LUSC-US 18 33722805 33722805 single base substitution A T downstream_gene_variant LUSC-US 18 33722805 33722805 single base substitution A T exon_variant LUSC-US 18 33722805 33722805 single base substitution A T intron_variant LUSC-US 18 33722805 33722805 single base substitution A T synonymous_variant L154L 462A>T LUSC-US 18 33722805 33722805 single base substitution A T synonymous_variant L198L 594A>T LUSC-US 18 33722805 33722805 single base substitution A T synonymous_variant L224L 672A>T LUSC-US 18 33722805 33722805 single base substitution A T synonymous_variant L263L 789A>T LUSC-US 18 33722805 33722805 single base substitution A T synonymous_variant L289L 867A>T LUSC-US 18 33725955 33725955 single base substitution G T downstream_gene_variant LUSC-US 18 33725955 33725955 single base substitution G T exon_variant LUSC-US 18 33725955 33725955 single base substitution G T intron_variant LUSC-US 18 33725955 33725955 single base substitution G T missense_variant D243Y 727G>T LUSC-US 18 33725955 33725955 single base substitution G T missense_variant D287Y 859G>T LUSC-US 18 33725955 33725955 single base substitution G T missense_variant D313Y 937G>T LUSC-US 18 33725955 33725955 single base substitution G T missense_variant D352Y 1054G>T LUSC-US 18 33725955 33725955 single base substitution G T missense_variant D378Y 1132G>T LUSC-US 18 33726217 33726217 single base substitution G T downstream_gene_variant LUSC-US 18 33726217 33726217 single base substitution G T exon_variant LUSC-US 18 33726217 33726217 single base substitution G T intron_variant LUSC-US 18 33726217 33726217 single base substitution G T missense_variant R263L 788G>T LUSC-US 18 33726217 33726217 single base substitution G T missense_variant R307L 920G>T LUSC-US 18 33726217 33726217 single base substitution G T missense_variant R333L 998G>T LUSC-US 18 33726217 33726217 single base substitution G T missense_variant R398L 1193G>T MALY-DE 18 33719303 33719303 single base substitution A C downstream_gene_variant MALY-DE 18 33719303 33719303 single base substitution A C intron_variant MALY-DE 18 33719303 33719303 single base substitution A C upstream_gene_variant MALY-DE 18 33732021 33732021 single base substitution G T intron_variant MALY-DE 18 33732021 33732021 single base substitution G T upstream_gene_variant MALY-DE 18 33745352 33745352 single base substitution C A downstream_gene_variant MALY-DE 18 33745352 33745352 single base substitution C A intron_variant MALY-DE 18 33745352 33745352 single base substitution C A upstream_gene_variant MALY-DE 18 33747602 33747602 single base substitution G A downstream_gene_variant MALY-DE 18 33747602 33747602 single base substitution G A intron_variant MALY-DE 18 33747602 33747602 single base substitution G A upstream_gene_variant MALY-DE 18 33755741 33755741 deletion of <=200bp G - 3_prime_UTR_variant MALY-DE 18 33755741 33755741 deletion of <=200bp G - downstream_gene_variant MELA-AU 18 33705584 33705584 single base substitution T A upstream_gene_variant MELA-AU 18 33706225 33706225 single base substitution T G upstream_gene_variant MELA-AU 18 33706247 33706247 single base substitution C T upstream_gene_variant MELA-AU 18 33706465 33706466 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 18 33706940 33706940 single base substitution G A upstream_gene_variant MELA-AU 18 33707840 33707840 insertion of <=200bp - T upstream_gene_variant MELA-AU 18 33709142 33709142 single base substitution C T upstream_gene_variant MELA-AU 18 33709537 33709537 single base substitution G A intron_variant MELA-AU 18 33709537 33709537 single base substitution G A upstream_gene_variant MELA-AU 18 33710404 33710404 single base substitution C T intron_variant MELA-AU 18 33711206 33711206 single base substitution C T intron_variant MELA-AU 18 33711461 33711461 single base substitution G A intron_variant MELA-AU 18 33712028 33712028 single base substitution C T intron_variant MELA-AU 18 33713110 33713110 single base substitution G A intron_variant MELA-AU 18 33713110 33713110 single base substitution G A upstream_gene_variant MELA-AU 18 33713200 33713200 single base substitution G A intron_variant MELA-AU 18 33713200 33713200 single base substitution G A splice_acceptor_variant MELA-AU 18 33713200 33713200 single base substitution G A upstream_gene_variant MELA-AU 18 33713680 33713680 single base substitution C T intron_variant MELA-AU 18 33713680 33713680 single base substitution C T upstream_gene_variant MELA-AU 18 33713903 33713903 single base substitution C T intron_variant MELA-AU 18 33713903 33713903 single base substitution C T upstream_gene_variant MELA-AU 18 33713969 33713969 single base substitution T C intron_variant MELA-AU 18 33713969 33713969 single base substitution T C upstream_gene_variant MELA-AU 18 33713983 33713983 single base substitution C T intron_variant MELA-AU 18 33713983 33713983 single base substitution C T upstream_gene_variant MELA-AU 18 33714261 33714261 single base substitution C T intron_variant MELA-AU 18 33714261 33714261 single base substitution C T upstream_gene_variant MELA-AU 18 33714410 33714410 single base substitution C T intron_variant MELA-AU 18 33714410 33714410 single base substitution C T upstream_gene_variant MELA-AU 18 33715216 33715216 single base substitution C T intron_variant MELA-AU 18 33715216 33715216 single base substitution C T upstream_gene_variant MELA-AU 18 33715289 33715289 single base substitution C T intron_variant MELA-AU 18 33715289 33715289 single base substitution C T upstream_gene_variant MELA-AU 18 33715525 33715525 single base substitution A T intron_variant MELA-AU 18 33715525 33715525 single base substitution A T upstream_gene_variant MELA-AU 18 33715855 33715855 single base substitution C T intron_variant MELA-AU 18 33715855 33715855 single base substitution C T upstream_gene_variant MELA-AU 18 33716694 33716694 single base substitution C T downstream_gene_variant MELA-AU 18 33716694 33716694 single base substitution C T intron_variant MELA-AU 18 33716694 33716694 single base substitution C T upstream_gene_variant MELA-AU 18 33718212 33718212 single base substitution C T downstream_gene_variant MELA-AU 18 33718212 33718212 single base substitution C T exon_variant MELA-AU 18 33718212 33718212 single base substitution C T intron_variant MELA-AU 18 33718212 33718212 single base substitution C T upstream_gene_variant MELA-AU 18 33719198 33719198 single base substitution T G downstream_gene_variant MELA-AU 18 33719198 33719198 single base substitution T G intron_variant MELA-AU 18 33719198 33719198 single base substitution T G upstream_gene_variant MELA-AU 18 33719383 33719383 single base substitution T A downstream_gene_variant MELA-AU 18 33719383 33719383 single base substitution T A intron_variant MELA-AU 18 33719383 33719383 single base substitution T A splice_region_variant MELA-AU 18 33719383 33719383 single base substitution T A upstream_gene_variant MELA-AU 18 33719822 33719822 single base substitution T A downstream_gene_variant MELA-AU 18 33719822 33719822 single base substitution T A intron_variant MELA-AU 18 33719822 33719822 single base substitution T A upstream_gene_variant MELA-AU 18 33719848 33719848 single base substitution C T downstream_gene_variant MELA-AU 18 33719848 33719848 single base substitution C T intron_variant MELA-AU 18 33719848 33719848 single base substitution C T upstream_gene_variant MELA-AU 18 33720683 33720683 single base substitution C A downstream_gene_variant MELA-AU 18 33720683 33720683 single base substitution C A intron_variant MELA-AU 18 33720683 33720683 single base substitution C A upstream_gene_variant MELA-AU 18 33720687 33720687 single base substitution C A downstream_gene_variant MELA-AU 18 33720687 33720687 single base substitution C A intron_variant MELA-AU 18 33720687 33720687 single base substitution C A upstream_gene_variant MELA-AU 18 33720782 33720782 single base substitution G A downstream_gene_variant MELA-AU 18 33720782 33720782 single base substitution G A intron_variant MELA-AU 18 33720782 33720782 single base substitution G A upstream_gene_variant MELA-AU 18 33721191 33721191 single base substitution G A downstream_gene_variant MELA-AU 18 33721191 33721191 single base substitution G A intron_variant MELA-AU 18 33721191 33721191 single base substitution G A upstream_gene_variant MELA-AU 18 33721304 33721304 single base substitution C T downstream_gene_variant MELA-AU 18 33721304 33721304 single base substitution C T intron_variant MELA-AU 18 33721304 33721304 single base substitution C T upstream_gene_variant MELA-AU 18 33721481 33721481 single base substitution C T downstream_gene_variant MELA-AU 18 33721481 33721481 single base substitution C T intron_variant MELA-AU 18 33722821 33722821 single base substitution G A downstream_gene_variant MELA-AU 18 33722821 33722821 single base substitution G A exon_variant MELA-AU 18 33722821 33722821 single base substitution G A intron_variant MELA-AU 18 33722821 33722821 single base substitution G A missense_variant D160N 478G>A MELA-AU 18 33722821 33722821 single base substitution G A missense_variant D204N 610G>A MELA-AU 18 33722821 33722821 single base substitution G A missense_variant D230N 688G>A MELA-AU 18 33722821 33722821 single base substitution G A missense_variant D269N 805G>A MELA-AU 18 33722821 33722821 single base substitution G A missense_variant D295N 883G>A MELA-AU 18 33723283 33723283 single base substitution C T downstream_gene_variant MELA-AU 18 33723283 33723283 single base substitution C T intron_variant MELA-AU 18 33723539 33723539 single base substitution C T downstream_gene_variant MELA-AU 18 33723539 33723539 single base substitution C T intron_variant MELA-AU 18 33723609 33723609 single base substitution C T downstream_gene_variant MELA-AU 18 33723609 33723609 single base substitution C T intron_variant MELA-AU 18 33724238 33724238 single base substitution A C downstream_gene_variant MELA-AU 18 33724238 33724238 single base substitution A C intron_variant MELA-AU 18 33724445 33724445 single base substitution C T downstream_gene_variant MELA-AU 18 33724445 33724445 single base substitution C T intron_variant MELA-AU 18 33725977 33725977 single base substitution C T downstream_gene_variant MELA-AU 18 33725977 33725977 single base substitution C T exon_variant MELA-AU 18 33725977 33725977 single base substitution C T intron_variant MELA-AU 18 33725977 33725977 single base substitution C T missense_variant A250V 749C>T MELA-AU 18 33725977 33725977 single base substitution C T missense_variant A294V 881C>T MELA-AU 18 33725977 33725977 single base substitution C T missense_variant A320V 959C>T MELA-AU 18 33725977 33725977 single base substitution C T missense_variant A359V 1076C>T MELA-AU 18 33725977 33725977 single base substitution C T missense_variant A385V 1154C>T MELA-AU 18 33727400 33727400 single base substitution C T downstream_gene_variant MELA-AU 18 33727400 33727400 single base substitution C T intron_variant MELA-AU 18 33727532 33727532 single base substitution C T downstream_gene_variant MELA-AU 18 33727532 33727532 single base substitution C T intron_variant MELA-AU 18 33727602 33727602 single base substitution C T downstream_gene_variant MELA-AU 18 33727602 33727602 single base substitution C T intron_variant MELA-AU 18 33727907 33727907 single base substitution C G downstream_gene_variant MELA-AU 18 33727907 33727907 single base substitution C G intron_variant MELA-AU 18 33728026 33728026 single base substitution C T downstream_gene_variant MELA-AU 18 33728026 33728026 single base substitution C T intron_variant MELA-AU 18 33728123 33728123 single base substitution C A downstream_gene_variant MELA-AU 18 33728123 33728123 single base substitution C A intron_variant MELA-AU 18 33728338 33728338 single base substitution C T downstream_gene_variant MELA-AU 18 33728338 33728338 single base substitution C T intron_variant MELA-AU 18 33728702 33728702 single base substitution C T downstream_gene_variant MELA-AU 18 33728702 33728702 single base substitution C T intron_variant MELA-AU 18 33728883 33728883 single base substitution C T downstream_gene_variant MELA-AU 18 33728883 33728883 single base substitution C T intron_variant MELA-AU 18 33729478 33729478 single base substitution T G downstream_gene_variant MELA-AU 18 33729478 33729478 single base substitution T G intron_variant MELA-AU 18 33729627 33729627 single base substitution C T downstream_gene_variant MELA-AU 18 33729627 33729627 single base substitution C T intron_variant MELA-AU 18 33730387 33730387 single base substitution C T downstream_gene_variant MELA-AU 18 33730387 33730387 single base substitution C T intron_variant MELA-AU 18 33730387 33730387 single base substitution C T upstream_gene_variant MELA-AU 18 33731578 33731578 single base substitution C T intron_variant MELA-AU 18 33731578 33731578 single base substitution C T upstream_gene_variant MELA-AU 18 33733640 33733640 single base substitution C T intron_variant MELA-AU 18 33733640 33733640 single base substitution C T upstream_gene_variant MELA-AU 18 33734233 33734233 single base substitution T C intron_variant MELA-AU 18 33734233 33734233 single base substitution T C upstream_gene_variant MELA-AU 18 33735321 33735321 single base substitution C T intron_variant MELA-AU 18 33735321 33735321 single base substitution C T upstream_gene_variant MELA-AU 18 33735716 33735716 single base substitution C T intron_variant MELA-AU 18 33735716 33735716 single base substitution C T upstream_gene_variant MELA-AU 18 33735979 33735979 single base substitution A C intron_variant MELA-AU 18 33735979 33735979 single base substitution A C upstream_gene_variant MELA-AU 18 33736131 33736131 single base substitution G T intron_variant MELA-AU 18 33736131 33736131 single base substitution G T upstream_gene_variant MELA-AU 18 33737310 33737310 single base substitution C T intron_variant MELA-AU 18 33737310 33737310 single base substitution C T upstream_gene_variant MELA-AU 18 33737325 33737325 single base substitution C T intron_variant MELA-AU 18 33737325 33737325 single base substitution C T upstream_gene_variant MELA-AU 18 33737663 33737663 single base substitution C T intron_variant MELA-AU 18 33737663 33737663 single base substitution C T upstream_gene_variant MELA-AU 18 33737667 33737667 single base substitution G T intron_variant MELA-AU 18 33737667 33737667 single base substitution G T upstream_gene_variant MELA-AU 18 33737887 33737887 single base substitution C T intron_variant MELA-AU 18 33737887 33737887 single base substitution C T upstream_gene_variant MELA-AU 18 33738512 33738512 single base substitution C T exon_variant MELA-AU 18 33738512 33738512 single base substitution C T intron_variant MELA-AU 18 33738512 33738512 single base substitution C T upstream_gene_variant MELA-AU 18 33739354 33739354 single base substitution G A intron_variant MELA-AU 18 33739354 33739354 single base substitution G A upstream_gene_variant MELA-AU 18 33739545 33739545 single base substitution G A intron_variant MELA-AU 18 33739545 33739545 single base substitution G A upstream_gene_variant MELA-AU 18 33740252 33740252 single base substitution A T intron_variant MELA-AU 18 33741310 33741310 single base substitution C T intron_variant MELA-AU 18 33741602 33741602 single base substitution C T intron_variant MELA-AU 18 33741627 33741627 single base substitution C G intron_variant MELA-AU 18 33741774 33741774 single base substitution C T intron_variant MELA-AU 18 33741920 33741921 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 33741920 33741921 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 18 33743696 33743696 single base substitution C T intron_variant MELA-AU 18 33743696 33743696 single base substitution C T upstream_gene_variant MELA-AU 18 33743845 33743845 single base substitution T C intron_variant MELA-AU 18 33743845 33743845 single base substitution T C upstream_gene_variant MELA-AU 18 33743890 33743890 single base substitution C T intron_variant MELA-AU 18 33743890 33743890 single base substitution C T upstream_gene_variant MELA-AU 18 33743892 33743892 single base substitution T C intron_variant MELA-AU 18 33743892 33743892 single base substitution T C upstream_gene_variant MELA-AU 18 33743929 33743929 single base substitution G A intron_variant MELA-AU 18 33743929 33743929 single base substitution G A upstream_gene_variant MELA-AU 18 33744432 33744432 single base substitution C T intron_variant MELA-AU 18 33744432 33744432 single base substitution C T splice_region_variant MELA-AU 18 33744432 33744432 single base substitution C T upstream_gene_variant MELA-AU 18 33745379 33745379 single base substitution C T downstream_gene_variant MELA-AU 18 33745379 33745379 single base substitution C T intron_variant MELA-AU 18 33745379 33745379 single base substitution C T upstream_gene_variant MELA-AU 18 33745767 33745767 single base substitution C T downstream_gene_variant MELA-AU 18 33745767 33745767 single base substitution C T intron_variant MELA-AU 18 33745767 33745767 single base substitution C T upstream_gene_variant MELA-AU 18 33746243 33746243 single base substitution C T downstream_gene_variant MELA-AU 18 33746243 33746243 single base substitution C T intron_variant MELA-AU 18 33746243 33746243 single base substitution C T upstream_gene_variant MELA-AU 18 33747266 33747266 single base substitution C T downstream_gene_variant MELA-AU 18 33747266 33747266 single base substitution C T intron_variant MELA-AU 18 33747266 33747266 single base substitution C T upstream_gene_variant MELA-AU 18 33747435 33747435 single base substitution C T downstream_gene_variant MELA-AU 18 33747435 33747435 single base substitution C T intron_variant MELA-AU 18 33747435 33747435 single base substitution C T upstream_gene_variant MELA-AU 18 33747741 33747741 single base substitution A T downstream_gene_variant MELA-AU 18 33747741 33747741 single base substitution A T intron_variant MELA-AU 18 33747741 33747741 single base substitution A T upstream_gene_variant MELA-AU 18 33748113 33748113 single base substitution G A downstream_gene_variant MELA-AU 18 33748113 33748113 single base substitution G A intron_variant MELA-AU 18 33748113 33748113 single base substitution G A upstream_gene_variant MELA-AU 18 33748593 33748593 single base substitution C T downstream_gene_variant MELA-AU 18 33748593 33748593 single base substitution C T intron_variant MELA-AU 18 33748593 33748593 single base substitution C T upstream_gene_variant MELA-AU 18 33749304 33749304 single base substitution C T downstream_gene_variant MELA-AU 18 33749304 33749304 single base substitution C T intron_variant MELA-AU 18 33749304 33749304 single base substitution C T upstream_gene_variant MELA-AU 18 33749469 33749469 single base substitution C G downstream_gene_variant MELA-AU 18 33749469 33749469 single base substitution C G intron_variant MELA-AU 18 33749469 33749469 single base substitution C G upstream_gene_variant MELA-AU 18 33749606 33749606 single base substitution C A downstream_gene_variant MELA-AU 18 33749606 33749606 single base substitution C A intron_variant MELA-AU 18 33749606 33749606 single base substitution C A upstream_gene_variant MELA-AU 18 33749725 33749725 single base substitution C T downstream_gene_variant MELA-AU 18 33749725 33749725 single base substitution C T intron_variant MELA-AU 18 33749725 33749725 single base substitution C T upstream_gene_variant MELA-AU 18 33751491 33751491 single base substitution C T intron_variant MELA-AU 18 33751770 33751770 single base substitution C T intron_variant MELA-AU 18 33752223 33752223 single base substitution C T intron_variant MELA-AU 18 33752964 33752964 single base substitution C T intron_variant MELA-AU 18 33753336 33753336 single base substitution C T intron_variant MELA-AU 18 33753565 33753565 single base substitution C G intron_variant MELA-AU 18 33753707 33753707 single base substitution C T intron_variant MELA-AU 18 33753742 33753742 single base substitution C T intron_variant MELA-AU 18 33755222 33755222 single base substitution C T 3_prime_UTR_variant MELA-AU 18 33755222 33755222 single base substitution C T downstream_gene_variant MELA-AU 18 33755579 33755579 single base substitution C T 3_prime_UTR_variant MELA-AU 18 33755579 33755579 single base substitution C T downstream_gene_variant MELA-AU 18 33757087 33757087 single base substitution T A 3_prime_UTR_variant MELA-AU 18 33757087 33757087 single base substitution T A downstream_gene_variant MELA-AU 18 33757513 33757513 single base substitution G A 3_prime_UTR_variant MELA-AU 18 33757513 33757513 single base substitution G A downstream_gene_variant MELA-AU 18 33757713 33757713 single base substitution A G 3_prime_UTR_variant MELA-AU 18 33757713 33757713 single base substitution A G downstream_gene_variant MELA-AU 18 33757801 33757801 single base substitution C T 3_prime_UTR_variant MELA-AU 18 33757801 33757801 single base substitution C T downstream_gene_variant MELA-AU 18 33758918 33758918 single base substitution C T downstream_gene_variant MELA-AU 18 33759328 33759329 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 18 33759656 33759656 single base substitution C A downstream_gene_variant MELA-AU 18 33760912 33760913 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 18 33761739 33761739 single base substitution C T downstream_gene_variant MELA-AU 18 33762059 33762059 single base substitution C T downstream_gene_variant MELA-AU 18 33762064 33762064 single base substitution C T downstream_gene_variant MELA-AU 18 33762543 33762543 single base substitution G A downstream_gene_variant ORCA-IN 18 33721518 33721518 single base substitution G T downstream_gene_variant ORCA-IN 18 33721518 33721518 single base substitution G T intron_variant ORCA-IN 18 33729446 33729446 insertion of <=200bp - T downstream_gene_variant ORCA-IN 18 33729446 33729446 insertion of <=200bp - T intron_variant ORCA-IN 18 33749051 33749051 single base substitution C A downstream_gene_variant ORCA-IN 18 33749051 33749051 single base substitution C A intron_variant ORCA-IN 18 33749051 33749051 single base substitution C A upstream_gene_variant OV-AU 18 33708682 33708682 single base substitution T G upstream_gene_variant OV-AU 18 33709334 33709334 single base substitution C A upstream_gene_variant OV-AU 18 33711662 33711662 single base substitution C T intron_variant OV-AU 18 33716441 33716441 single base substitution C T exon_variant OV-AU 18 33716441 33716441 single base substitution C T intron_variant OV-AU 18 33716441 33716441 single base substitution C T upstream_gene_variant OV-AU 18 33721173 33721173 single base substitution G T downstream_gene_variant OV-AU 18 33721173 33721173 single base substitution G T intron_variant OV-AU 18 33721173 33721173 single base substitution G T upstream_gene_variant OV-AU 18 33722820 33722820 single base substitution A T 3_prime_UTR_variant OV-AU 18 33722820 33722820 single base substitution A T downstream_gene_variant OV-AU 18 33722820 33722820 single base substitution A T exon_variant OV-AU 18 33722820 33722820 single base substitution A T intron_variant OV-AU 18 33722820 33722820 single base substitution A T missense_variant Q159H 477A>T OV-AU 18 33722820 33722820 single base substitution A T missense_variant Q203H 609A>T OV-AU 18 33722820 33722820 single base substitution A T missense_variant Q229H 687A>T OV-AU 18 33722820 33722820 single base substitution A T missense_variant Q268H 804A>T OV-AU 18 33722820 33722820 single base substitution A T missense_variant Q294H 882A>T OV-AU 18 33723491 33723491 single base substitution T C downstream_gene_variant OV-AU 18 33723491 33723491 single base substitution T C intron_variant OV-AU 18 33724658 33724658 single base substitution C T downstream_gene_variant OV-AU 18 33724658 33724658 single base substitution C T intron_variant OV-AU 18 33740239 33740239 single base substitution C G intron_variant OV-AU 18 33746577 33746577 single base substitution T C downstream_gene_variant OV-AU 18 33746577 33746577 single base substitution T C intron_variant OV-AU 18 33746577 33746577 single base substitution T C upstream_gene_variant OV-AU 18 33748037 33748037 single base substitution C G downstream_gene_variant OV-AU 18 33748037 33748037 single base substitution C G intron_variant OV-AU 18 33748037 33748037 single base substitution C G upstream_gene_variant OV-AU 18 33748885 33748885 single base substitution T C downstream_gene_variant OV-AU 18 33748885 33748885 single base substitution T C intron_variant OV-AU 18 33748885 33748885 single base substitution T C upstream_gene_variant OV-AU 18 33749371 33749371 single base substitution C T downstream_gene_variant OV-AU 18 33749371 33749371 single base substitution C T intron_variant OV-AU 18 33749371 33749371 single base substitution C T upstream_gene_variant OV-AU 18 33749386 33749386 single base substitution G A downstream_gene_variant OV-AU 18 33749386 33749386 single base substitution G A intron_variant OV-AU 18 33749386 33749386 single base substitution G A upstream_gene_variant PACA-AU 18 33711210 33711210 single base substitution C T intron_variant PACA-AU 18 33715234 33715234 single base substitution G A intron_variant PACA-AU 18 33715234 33715234 single base substitution G A upstream_gene_variant PACA-AU 18 33727371 33727371 insertion of <=200bp - TTTGTTTG downstream_gene_variant PACA-AU 18 33727371 33727371 insertion of <=200bp - TTTGTTTG intron_variant PACA-AU 18 33728056 33728056 insertion of <=200bp - T downstream_gene_variant PACA-AU 18 33728056 33728056 insertion of <=200bp - T intron_variant PACA-AU 18 33738482 33738482 single base substitution G T exon_variant PACA-AU 18 33738482 33738482 single base substitution G T intron_variant PACA-AU 18 33738482 33738482 single base substitution G T upstream_gene_variant PACA-AU 18 33738553 33738553 single base substitution G T exon_variant PACA-AU 18 33738553 33738553 single base substitution G T intron_variant PACA-AU 18 33738553 33738553 single base substitution G T upstream_gene_variant PACA-AU 18 33738554 33738554 single base substitution G T exon_variant PACA-AU 18 33738554 33738554 single base substitution G T intron_variant PACA-AU 18 33738554 33738554 single base substitution G T upstream_gene_variant PACA-AU 18 33744363 33744364 deletion of <=200bp TG - intron_variant PACA-AU 18 33744363 33744364 deletion of <=200bp TG - upstream_gene_variant PACA-AU 18 33749517 33749517 insertion of <=200bp - T downstream_gene_variant PACA-AU 18 33749517 33749517 insertion of <=200bp - T intron_variant PACA-AU 18 33749517 33749517 insertion of <=200bp - T upstream_gene_variant PACA-AU 18 33750442 33750442 deletion of <=200bp T - intron_variant PACA-AU 18 33750442 33750442 deletion of <=200bp T - upstream_gene_variant PACA-AU 18 33759397 33759397 single base substitution C A downstream_gene_variant PACA-AU 18 33759612 33759612 single base substitution C T downstream_gene_variant PACA-CA 18 33704828 33704828 single base substitution G A upstream_gene_variant PACA-CA 18 33706038 33706038 single base substitution G C upstream_gene_variant PACA-CA 18 33712371 33712371 single base substitution C T intron_variant PACA-CA 18 33712371 33712371 single base substitution C T upstream_gene_variant PACA-CA 18 33712793 33712793 single base substitution C T intron_variant PACA-CA 18 33712793 33712793 single base substitution C T upstream_gene_variant PACA-CA 18 33716500 33716500 single base substitution C G exon_variant PACA-CA 18 33716500 33716500 single base substitution C G intron_variant PACA-CA 18 33716500 33716500 single base substitution C G upstream_gene_variant PACA-CA 18 33723461 33723461 single base substitution G C downstream_gene_variant PACA-CA 18 33723461 33723461 single base substitution G C intron_variant PACA-CA 18 33726060 33726060 single base substitution G C downstream_gene_variant PACA-CA 18 33726060 33726060 single base substitution G C intron_variant PACA-CA 18 33733597 33733597 single base substitution G A intron_variant PACA-CA 18 33733597 33733597 single base substitution G A upstream_gene_variant PACA-CA 18 33733836 33733836 single base substitution A C intron_variant PACA-CA 18 33733836 33733836 single base substitution A C upstream_gene_variant PACA-CA 18 33741943 33741943 deletion of <=200bp T - intron_variant PACA-CA 18 33741943 33741943 deletion of <=200bp T - upstream_gene_variant PACA-CA 18 33747128 33747128 single base substitution G T 3_prime_UTR_variant PACA-CA 18 33747128 33747128 single base substitution G T downstream_gene_variant PACA-CA 18 33747128 33747128 single base substitution G T exon_variant PACA-CA 18 33747128 33747128 single base substitution G T missense_variant W603C 1809G>T PACA-CA 18 33747128 33747128 single base substitution G T missense_variant W647C 1941G>T PACA-CA 18 33747128 33747128 single base substitution G T missense_variant W668C 2004G>T PACA-CA 18 33747128 33747128 single base substitution G T missense_variant W673C 2019G>T PACA-CA 18 33747128 33747128 single base substitution G T missense_variant W738C 2214G>T PACA-CA 18 33747128 33747128 single base substitution G T upstream_gene_variant PACA-CA 18 33761864 33761864 single base substitution G T downstream_gene_variant PACA-CA 18 33762762 33762762 single base substitution C G downstream_gene_variant PAEN-AU 18 33711373 33711373 single base substitution C T intron_variant PAEN-AU 18 33717075 33717075 single base substitution G C downstream_gene_variant PAEN-AU 18 33717075 33717075 single base substitution G C intron_variant PAEN-AU 18 33717075 33717075 single base substitution G C upstream_gene_variant PAEN-AU 18 33719156 33719156 single base substitution G A downstream_gene_variant PAEN-AU 18 33719156 33719156 single base substitution G A intron_variant PAEN-AU 18 33719156 33719156 single base substitution G A upstream_gene_variant PAEN-IT 18 33707014 33707014 single base substitution C T upstream_gene_variant PBCA-DE 18 33707738 33707738 single base substitution A T upstream_gene_variant PBCA-DE 18 33710903 33710903 insertion of <=200bp - C intron_variant PBCA-DE 18 33715143 33715143 single base substitution C G intron_variant PBCA-DE 18 33715143 33715143 single base substitution C G upstream_gene_variant PBCA-DE 18 33717369 33717369 single base substitution T C downstream_gene_variant PBCA-DE 18 33717369 33717369 single base substitution T C intron_variant PBCA-DE 18 33717369 33717369 single base substitution T C upstream_gene_variant PBCA-DE 18 33718204 33718204 single base substitution C T downstream_gene_variant PBCA-DE 18 33718204 33718204 single base substitution C T exon_variant PBCA-DE 18 33718204 33718204 single base substitution C T intron_variant PBCA-DE 18 33718204 33718204 single base substitution C T upstream_gene_variant PBCA-DE 18 33725766 33725766 single base substitution A T downstream_gene_variant PBCA-DE 18 33725766 33725766 single base substitution A T intron_variant PBCA-DE 18 33732876 33732876 single base substitution T A intron_variant PBCA-DE 18 33732876 33732876 single base substitution T A upstream_gene_variant PRAD-CA 18 33739202 33739202 single base substitution A G intron_variant PRAD-CA 18 33739202 33739202 single base substitution A G upstream_gene_variant PRAD-CA 18 33746311 33746311 single base substitution C G downstream_gene_variant PRAD-CA 18 33746311 33746311 single base substitution C G intron_variant PRAD-CA 18 33746311 33746311 single base substitution C G upstream_gene_variant PRAD-CA 18 33746311 33746311 single base substitution C T downstream_gene_variant PRAD-CA 18 33746311 33746311 single base substitution C T intron_variant PRAD-CA 18 33746311 33746311 single base substitution C T upstream_gene_variant PRAD-UK 18 33708338 33708338 single base substitution C T upstream_gene_variant PRAD-UK 18 33708365 33708365 single base substitution G T upstream_gene_variant PRAD-UK 18 33716691 33716691 single base substitution G A downstream_gene_variant PRAD-UK 18 33716691 33716691 single base substitution G A intron_variant PRAD-UK 18 33716691 33716691 single base substitution G A upstream_gene_variant PRAD-UK 18 33717482 33717482 single base substitution A T downstream_gene_variant PRAD-UK 18 33717482 33717482 single base substitution A T intron_variant PRAD-UK 18 33717482 33717482 single base substitution A T upstream_gene_variant PRAD-UK 18 33721571 33721595 deletion of <=200bp CTAAACTCATTTATTTAATAGGATA - downstream_gene_variant PRAD-UK 18 33721571 33721595 deletion of <=200bp CTAAACTCATTTATTTAATAGGATA - intron_variant PRAD-UK 18 33722681 33722681 insertion of <=200bp - T downstream_gene_variant PRAD-UK 18 33722681 33722681 insertion of <=200bp - T intron_variant PRAD-UK 18 33722689 33722689 insertion of <=200bp - T downstream_gene_variant PRAD-UK 18 33722689 33722689 insertion of <=200bp - T intron_variant PRAD-UK 18 33739213 33739213 single base substitution C A intron_variant PRAD-UK 18 33739213 33739213 single base substitution C A upstream_gene_variant PRAD-UK 18 33740726 33740726 single base substitution C T intron_variant PRAD-UK 18 33742738 33742738 single base substitution A G intron_variant PRAD-UK 18 33742738 33742738 single base substitution A G upstream_gene_variant PRAD-UK 18 33744212 33744212 single base substitution A G intron_variant PRAD-UK 18 33744212 33744212 single base substitution A G upstream_gene_variant PRAD-UK 18 33755477 33755477 single base substitution A C 3_prime_UTR_variant PRAD-UK 18 33755477 33755477 single base substitution A C downstream_gene_variant PRAD-US 18 33706784 33706784 single base substitution G T upstream_gene_variant PRAD-US 18 33739979 33739979 single base substitution G T intron_variant PRAD-US 18 33739979 33739979 single base substitution G T splice_donor_variant READ-US 18 33750158 33750158 single base substitution C T downstream_gene_variant READ-US 18 33750158 33750158 single base substitution C T splice_region_variant READ-US 18 33750158 33750158 single base substitution C T stop_gained R667* 1999C>T READ-US 18 33750158 33750158 single base substitution C T stop_gained R711* 2131C>T READ-US 18 33750158 33750158 single base substitution C T stop_gained R732* 2194C>T READ-US 18 33750158 33750158 single base substitution C T stop_gained R737* 2209C>T READ-US 18 33750158 33750158 single base substitution C T stop_gained R802* 2404C>T READ-US 18 33750158 33750158 single base substitution C T upstream_gene_variant RECA-EU 18 33705765 33705765 single base substitution G C upstream_gene_variant RECA-EU 18 33706410 33706410 single base substitution C T upstream_gene_variant RECA-EU 18 33706680 33706680 single base substitution G C upstream_gene_variant RECA-EU 18 33717601 33717601 single base substitution A T downstream_gene_variant RECA-EU 18 33717601 33717601 single base substitution A T intron_variant RECA-EU 18 33717601 33717601 single base substitution A T upstream_gene_variant RECA-EU 18 33755807 33755807 single base substitution A G 3_prime_UTR_variant RECA-EU 18 33755807 33755807 single base substitution A G downstream_gene_variant RECA-EU 18 33756943 33756943 single base substitution G A 3_prime_UTR_variant RECA-EU 18 33756943 33756943 single base substitution G A downstream_gene_variant SKCA-BR 18 33705135 33705135 single base substitution T G upstream_gene_variant SKCA-BR 18 33705313 33705313 insertion of <=200bp - GA upstream_gene_variant SKCA-BR 18 33706174 33706174 single base substitution C T upstream_gene_variant SKCA-BR 18 33708941 33708941 single base substitution A C upstream_gene_variant SKCA-BR 18 33709231 33709231 single base substitution G A upstream_gene_variant SKCA-BR 18 33710440 33710440 single base substitution T A intron_variant SKCA-BR 18 33716092 33716092 single base substitution G A intron_variant SKCA-BR 18 33716092 33716092 single base substitution G A upstream_gene_variant SKCA-BR 18 33718042 33718042 single base substitution G A downstream_gene_variant SKCA-BR 18 33718042 33718042 single base substitution G A intron_variant SKCA-BR 18 33718042 33718042 single base substitution G A upstream_gene_variant SKCA-BR 18 33727626 33727626 single base substitution T C downstream_gene_variant SKCA-BR 18 33727626 33727626 single base substitution T C intron_variant SKCA-BR 18 33731801 33731801 single base substitution C T intron_variant SKCA-BR 18 33731801 33731801 single base substitution C T upstream_gene_variant SKCA-BR 18 33735738 33735738 single base substitution T C intron_variant SKCA-BR 18 33735738 33735738 single base substitution T C upstream_gene_variant SKCA-BR 18 33744314 33744314 insertion of <=200bp - AT intron_variant SKCA-BR 18 33744314 33744314 insertion of <=200bp - AT upstream_gene_variant SKCA-BR 18 33744702 33744702 single base substitution T C downstream_gene_variant SKCA-BR 18 33744702 33744702 single base substitution T C exon_variant SKCA-BR 18 33744702 33744702 single base substitution T C intron_variant SKCA-BR 18 33744702 33744702 single base substitution T C upstream_gene_variant SKCA-BR 18 33746160 33746160 insertion of <=200bp - CA downstream_gene_variant SKCA-BR 18 33746160 33746160 insertion of <=200bp - CA intron_variant SKCA-BR 18 33746160 33746160 insertion of <=200bp - CA upstream_gene_variant SKCA-BR 18 33746323 33746323 single base substitution C T downstream_gene_variant SKCA-BR 18 33746323 33746323 single base substitution C T intron_variant SKCA-BR 18 33746323 33746323 single base substitution C T upstream_gene_variant SKCA-BR 18 33747657 33747657 insertion of <=200bp - AT downstream_gene_variant SKCA-BR 18 33747657 33747657 insertion of <=200bp - AT intron_variant SKCA-BR 18 33747657 33747657 insertion of <=200bp - AT upstream_gene_variant SKCA-BR 18 33752783 33752783 single base substitution A G intron_variant SKCA-BR 18 33753382 33753382 single base substitution T G intron_variant SKCA-BR 18 33753626 33753626 single base substitution C T intron_variant SKCA-BR 18 33755335 33755335 single base substitution C T 3_prime_UTR_variant SKCA-BR 18 33755335 33755335 single base substitution C T downstream_gene_variant SKCA-BR 18 33755995 33755995 single base substitution C T 3_prime_UTR_variant SKCA-BR 18 33755995 33755995 single base substitution C T downstream_gene_variant SKCA-BR 18 33756383 33756383 single base substitution C T 3_prime_UTR_variant SKCA-BR 18 33756383 33756383 single base substitution C T downstream_gene_variant SKCA-BR 18 33759542 33759542 single base substitution T G downstream_gene_variant SKCM-US 18 33706343 33706343 single base substitution G A upstream_gene_variant SKCM-US 18 33706538 33706538 single base substitution G A upstream_gene_variant SKCM-US 18 33706700 33706700 single base substitution G A upstream_gene_variant SKCM-US 18 33713200 33713200 single base substitution G A intron_variant SKCM-US 18 33713200 33713200 single base substitution G A splice_acceptor_variant SKCM-US 18 33713200 33713200 single base substitution G A upstream_gene_variant SKCM-US 18 33718315 33718315 single base substitution C T 3_prime_UTR_variant SKCM-US 18 33718315 33718315 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant SKCM-US 18 33718315 33718315 single base substitution C T downstream_gene_variant SKCM-US 18 33718315 33718315 single base substitution C T exon_variant SKCM-US 18 33718315 33718315 single base substitution C T intron_variant SKCM-US 18 33718315 33718315 single base substitution C T missense_variant P124L 371C>T SKCM-US 18 33718315 33718315 single base substitution C T upstream_gene_variant SKCM-US 18 33718367 33718367 single base substitution C G 3_prime_UTR_variant SKCM-US 18 33718367 33718367 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant SKCM-US 18 33718367 33718367 single base substitution C G downstream_gene_variant SKCM-US 18 33718367 33718367 single base substitution C G exon_variant SKCM-US 18 33718367 33718367 single base substitution C G intron_variant SKCM-US 18 33718367 33718367 single base substitution C G synonymous_variant L141L 423C>G SKCM-US 18 33718367 33718367 single base substitution C G upstream_gene_variant SKCM-US 18 33744542 33744542 single base substitution C T downstream_gene_variant SKCM-US 18 33744542 33744542 single base substitution C T exon_variant SKCM-US 18 33744542 33744542 single base substitution C T intron_variant SKCM-US 18 33744542 33744542 single base substitution C T synonymous_variant F552F 1656C>T SKCM-US 18 33744542 33744542 single base substitution C T synonymous_variant F596F 1788C>T SKCM-US 18 33744542 33744542 single base substitution C T synonymous_variant F617F 1851C>T SKCM-US 18 33744542 33744542 single base substitution C T synonymous_variant F622F 1866C>T SKCM-US 18 33744542 33744542 single base substitution C T synonymous_variant F687F 2061C>T SKCM-US 18 33744542 33744542 single base substitution C T upstream_gene_variant SKCM-US 18 33744557 33744557 single base substitution G C downstream_gene_variant SKCM-US 18 33744557 33744557 single base substitution G C exon_variant SKCM-US 18 33744557 33744557 single base substitution G C intron_variant SKCM-US 18 33744557 33744557 single base substitution G C missense_variant K557N 1671G>C SKCM-US 18 33744557 33744557 single base substitution G C missense_variant K601N 1803G>C SKCM-US 18 33744557 33744557 single base substitution G C missense_variant K622N 1866G>C SKCM-US 18 33744557 33744557 single base substitution G C missense_variant K627N 1881G>C SKCM-US 18 33744557 33744557 single base substitution G C missense_variant K692N 2076G>C SKCM-US 18 33744557 33744557 single base substitution G C upstream_gene_variant STAD-US 18 33704629 33704629 single base substitution C T upstream_gene_variant STAD-US 18 33706233 33706233 single base substitution C T upstream_gene_variant STAD-US 18 33706542 33706542 single base substitution T G upstream_gene_variant STAD-US 18 33706546 33706546 single base substitution C T upstream_gene_variant STAD-US 18 33706548 33706548 single base substitution C T upstream_gene_variant STAD-US 18 33713227 33713227 single base substitution T C 5_prime_UTR_variant STAD-US 18 33713227 33713227 single base substitution T C exon_variant STAD-US 18 33713227 33713227 single base substitution T C intron_variant STAD-US 18 33713227 33713227 single base substitution T C synonymous_variant N55N 165T>C STAD-US 18 33713227 33713227 single base substitution T C upstream_gene_variant STAD-US 18 33718382 33718382 single base substitution T C 3_prime_UTR_variant STAD-US 18 33718382 33718382 single base substitution T C 5_prime_UTR_variant STAD-US 18 33718382 33718382 single base substitution T C downstream_gene_variant STAD-US 18 33718382 33718382 single base substitution T C exon_variant STAD-US 18 33718382 33718382 single base substitution T C intron_variant STAD-US 18 33718382 33718382 single base substitution T C synonymous_variant G146G 438T>C STAD-US 18 33718382 33718382 single base substitution T C upstream_gene_variant STAD-US 18 33721158 33721158 single base substitution T C 3_prime_UTR_variant STAD-US 18 33721158 33721158 single base substitution T C downstream_gene_variant STAD-US 18 33721158 33721158 single base substitution T C exon_variant STAD-US 18 33721158 33721158 single base substitution T C intron_variant STAD-US 18 33721158 33721158 single base substitution T C synonymous_variant N168N 504T>C STAD-US 18 33721158 33721158 single base substitution T C synonymous_variant N194N 582T>C STAD-US 18 33721158 33721158 single base substitution T C synonymous_variant N233N 699T>C STAD-US 18 33721158 33721158 single base substitution T C synonymous_variant N259N 777T>C STAD-US 18 33721158 33721158 single base substitution T C synonymous_variant N45N 135T>C STAD-US 18 33721158 33721158 single base substitution T C upstream_gene_variant STAD-US 18 33725918 33725918 single base substitution C T downstream_gene_variant STAD-US 18 33725918 33725918 single base substitution C T exon_variant STAD-US 18 33725918 33725918 single base substitution C T intron_variant STAD-US 18 33725918 33725918 single base substitution C T synonymous_variant V230V 690C>T STAD-US 18 33725918 33725918 single base substitution C T synonymous_variant V274V 822C>T STAD-US 18 33725918 33725918 single base substitution C T synonymous_variant V300V 900C>T STAD-US 18 33725918 33725918 single base substitution C T synonymous_variant V339V 1017C>T STAD-US 18 33725918 33725918 single base substitution C T synonymous_variant V365V 1095C>T STAD-US 18 33726216 33726216 single base substitution C T downstream_gene_variant STAD-US 18 33726216 33726216 single base substitution C T exon_variant STAD-US 18 33726216 33726216 single base substitution C T intron_variant STAD-US 18 33726216 33726216 single base substitution C T stop_gained R263* 787C>T STAD-US 18 33726216 33726216 single base substitution C T stop_gained R307* 919C>T STAD-US 18 33726216 33726216 single base substitution C T stop_gained R333* 997C>T STAD-US 18 33726216 33726216 single base substitution C T stop_gained R398* 1192C>T STAD-US 18 33726217 33726217 single base substitution G A downstream_gene_variant STAD-US 18 33726217 33726217 single base substitution G A exon_variant STAD-US 18 33726217 33726217 single base substitution G A intron_variant STAD-US 18 33726217 33726217 single base substitution G A missense_variant R263Q 788G>A STAD-US 18 33726217 33726217 single base substitution G A missense_variant R307Q 920G>A STAD-US 18 33726217 33726217 single base substitution G A missense_variant R333Q 998G>A STAD-US 18 33726217 33726217 single base substitution G A missense_variant R398Q 1193G>A STAD-US 18 33726313 33726313 single base substitution T C downstream_gene_variant STAD-US 18 33726313 33726313 single base substitution T C exon_variant STAD-US 18 33726313 33726313 single base substitution T C intron_variant STAD-US 18 33726313 33726313 single base substitution T C missense_variant L295S 884T>C STAD-US 18 33726313 33726313 single base substitution T C missense_variant L339S 1016T>C STAD-US 18 33726313 33726313 single base substitution T C missense_variant L365S 1094T>C STAD-US 18 33726313 33726313 single base substitution T C missense_variant L430S 1289T>C STAD-US 18 33726340 33726340 single base substitution A G downstream_gene_variant STAD-US 18 33726340 33726340 single base substitution A G exon_variant STAD-US 18 33726340 33726340 single base substitution A G intron_variant STAD-US 18 33726340 33726340 single base substitution A G missense_variant N304S 911A>G STAD-US 18 33726340 33726340 single base substitution A G missense_variant N348S 1043A>G STAD-US 18 33726340 33726340 single base substitution A G missense_variant N374S 1121A>G STAD-US 18 33726340 33726340 single base substitution A G missense_variant N439S 1316A>G STAD-US 18 33736541 33736541 deletion of <=200bp T - exon_variant STAD-US 18 33736541 33736541 deletion of <=200bp T - frameshift_variant V393 STAD-US 18 33736541 33736541 deletion of <=200bp T - frameshift_variant V437 STAD-US 18 33736541 33736541 deletion of <=200bp T - frameshift_variant V458 STAD-US 18 33736541 33736541 deletion of <=200bp T - frameshift_variant V463 STAD-US 18 33736541 33736541 deletion of <=200bp T - frameshift_variant V528 STAD-US 18 33736541 33736541 deletion of <=200bp T - intron_variant STAD-US 18 33736541 33736541 deletion of <=200bp T - upstream_gene_variant STAD-US 18 33744530 33744530 single base substitution G A downstream_gene_variant STAD-US 18 33744530 33744530 single base substitution G A exon_variant STAD-US 18 33744530 33744530 single base substitution G A intron_variant STAD-US 18 33744530 33744530 single base substitution G A synonymous_variant T548T 1644G>A STAD-US 18 33744530 33744530 single base substitution G A synonymous_variant T592T 1776G>A STAD-US 18 33744530 33744530 single base substitution G A synonymous_variant T613T 1839G>A STAD-US 18 33744530 33744530 single base substitution G A synonymous_variant T618T 1854G>A STAD-US 18 33744530 33744530 single base substitution G A synonymous_variant T683T 2049G>A STAD-US 18 33744530 33744530 single base substitution G A upstream_gene_variant STAD-US 18 33750064 33750064 single base substitution T C 3_prime_UTR_variant STAD-US 18 33750064 33750064 single base substitution T C downstream_gene_variant STAD-US 18 33750064 33750064 single base substitution T C exon_variant STAD-US 18 33750064 33750064 single base substitution T C synonymous_variant C635C 1905T>C STAD-US 18 33750064 33750064 single base substitution T C synonymous_variant C679C 2037T>C STAD-US 18 33750064 33750064 single base substitution T C synonymous_variant C700C 2100T>C STAD-US 18 33750064 33750064 single base substitution T C synonymous_variant C705C 2115T>C STAD-US 18 33750064 33750064 single base substitution T C synonymous_variant C770C 2310T>C STAD-US 18 33750064 33750064 single base substitution T C upstream_gene_variant UCEC-US 18 33706236 33706236 single base substitution A G upstream_gene_variant UCEC-US 18 33706379 33706379 single base substitution C A upstream_gene_variant UCEC-US 18 33706420 33706420 single base substitution G A upstream_gene_variant UCEC-US 18 33706643 33706643 single base substitution G A upstream_gene_variant UCEC-US 18 33706653 33706653 single base substitution T A upstream_gene_variant UCEC-US 18 33706687 33706687 single base substitution T C upstream_gene_variant UCEC-US 18 33721159 33721159 single base substitution G T 3_prime_UTR_variant UCEC-US 18 33721159 33721159 single base substitution G T downstream_gene_variant UCEC-US 18 33721159 33721159 single base substitution G T exon_variant UCEC-US 18 33721159 33721159 single base substitution G T intron_variant UCEC-US 18 33721159 33721159 single base substitution G T missense_variant D169Y 505G>T UCEC-US 18 33721159 33721159 single base substitution G T missense_variant D195Y 583G>T UCEC-US 18 33721159 33721159 single base substitution G T missense_variant D234Y 700G>T UCEC-US 18 33721159 33721159 single base substitution G T missense_variant D260Y 778G>T UCEC-US 18 33721159 33721159 single base substitution G T missense_variant D46Y 136G>T UCEC-US 18 33721159 33721159 single base substitution G T upstream_gene_variant UCEC-US 18 33725995 33725995 single base substitution G T downstream_gene_variant UCEC-US 18 33725995 33725995 single base substitution G T exon_variant UCEC-US 18 33725995 33725995 single base substitution G T intron_variant UCEC-US 18 33725995 33725995 single base substitution G T missense_variant G256V 767G>T UCEC-US 18 33725995 33725995 single base substitution G T missense_variant G300V 899G>T UCEC-US 18 33725995 33725995 single base substitution G T missense_variant G326V 977G>T UCEC-US 18 33725995 33725995 single base substitution G T missense_variant G365V 1094G>T UCEC-US 18 33725995 33725995 single base substitution G T missense_variant G391V 1172G>T UCEC-US 18 33734888 33734888 single base substitution G T exon_variant UCEC-US 18 33734888 33734888 single base substitution G T intron_variant UCEC-US 18 33734888 33734888 single base substitution G T stop_gained E331* 991G>T UCEC-US 18 33734888 33734888 single base substitution G T stop_gained E375* 1123G>T UCEC-US 18 33734888 33734888 single base substitution G T stop_gained E396* 1186G>T UCEC-US 18 33734888 33734888 single base substitution G T stop_gained E401* 1201G>T UCEC-US 18 33734888 33734888 single base substitution G T stop_gained E466* 1396G>T UCEC-US 18 33734888 33734888 single base substitution G T upstream_gene_variant UCEC-US 18 33740924 33740924 single base substitution T C 3_prime_UTR_variant UCEC-US 18 33740924 33740924 single base substitution T C exon_variant UCEC-US 18 33740924 33740924 single base substitution T C intron_variant UCEC-US 18 33740924 33740924 single base substitution T C missense_variant V503A 1508T>C UCEC-US 18 33740924 33740924 single base substitution T C missense_variant V547A 1640T>C UCEC-US 18 33740924 33740924 single base substitution T C missense_variant V568A 1703T>C UCEC-US 18 33740924 33740924 single base substitution T C missense_variant V573A 1718T>C UCEC-US 18 33740924 33740924 single base substitution T C missense_variant V638A 1913T>C UCEC-US 18 33754471 33754471 single base substitution G A 3_prime_UTR_variant UCEC-US 18 33754471 33754471 single base substitution G A exon_variant UCEC-US 18 33754471 33754471 single base substitution G A missense_variant R713K 2138G>A UCEC-US 18 33754471 33754471 single base substitution G A missense_variant R757K 2270G>A UCEC-US 18 33754471 33754471 single base substitution G A missense_variant R778K 2333G>A UCEC-US 18 33754471 33754471 single base substitution G A missense_variant R783K 2348G>A UCEC-US 18 33754471 33754471 single base substitution G A missense_variant R848K 2543G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand 115 COSM5013291 c.2225T>A p.V742E Substitution - Missense 18:36171061-36171061 + TCGA-DK-A1A5-01 COSM417850 c.609C>G p.L203L Substitution - coding silent 18:36142301-36142301 + HT115 COSM2811309 c.554G>A p.C185Y Substitution - Missense 18:36141167-36141167 + 74 COSM1388588 c.913G>A p.V305M Substitution - Missense 18:36145968-36145968 + TCGA-HT-7476-01 COSM3970555 c.1544C>T p.A515V Substitution - Missense 18:36159744-36159744 + TCGA-D1-A17Q-01 COSM988206 c.583G>T p.D195Y Substitution - Missense 18:36141196-36141196 + CHC1746T COSM4787958 c.116C>G p.S39C Substitution - Missense 18:36130049-36130049 + PD4006a COSM219357 c.344C>G p.A115G Substitution - Missense 18:36138325-36138325 + TCGA-D9-A6EC-06 COSM4400561 c.423C>G p.L141L Substitution - coding silent 18:36138404-36138404 + CHC1209T COSM4804557 c.1344T>A p.N448K Substitution - Missense 18:36156534-36156534 + C086 COSM5530440 c.1499C>T p.P500L Substitution - Missense 18:36158869-36158869 + CR108 COSM4994708 c.898G>A p.V300I Substitution - Missense 18:36145953-36145953 + CHC976T COSM3668128 c.1011A>G p.V337V Substitution - coding silent 18:36146267-36146267 + XHDG38 COSM4769902 c.823C>G p.L275V Substitution - Missense 18:36144965-36144965 + 49M COSM4072048 c.997C>T p.R333* Substitution - Nonsense 18:36146253-36146253 + 61 COSM5741241 c.1958C>A p.P653Q Substitution - Missense 18:36167104-36167104 + AOCS-125-1-2 COSM4140075 c.687A>T p.Q229H Substitution - Missense 18:36142857-36142857 + TCGA-FU-A3YQ-01 COSM4823538 c.2206C>T p.Q736* Substitution - Nonsense 18:36170192-36170192 + LUAD-RT-S01813 COSM383206 c.905A>T p.Q302L Substitution - Missense 18:36145960-36145960 + ME045T COSM229591 c.713T>G p.L238R Substitution - Missense 18:36142883-36142883 + WT052-T2 COSM5352147 c.1294G>C p.A432P Substitution - Missense 18:36156484-36156484 + BD14T COSM3525656 c.371C>T p.P124L Substitution - Missense 18:36138352-36138352 + Gp5D COSM2811363 c.2065C>T p.R689* Substitution - Nonsense 18:36167211-36167211 + Gp2D COSM2811363 c.2065C>T p.R689* Substitution - Nonsense 18:36167211-36167211 + LP6005500-DNA_D01 COSM5036290 c.1037A>T p.D346V Substitution - Missense 18:36146293-36146293 + Pat_06_B COSM5854159 c.7G>A p.A3T Substitution - Missense 18:36129940-36129940 + KPOPBR-51-T COSM5964280 c.2105C>G p.T702S Substitution - Missense 18:36170091-36170091 + CCK81 COSM2811365 c.2071delA p.K692fs*32 Deletion - Frameshift 18:36167217-36167217 + SNU-C4 COSM2811333 c.1403G>A p.R468Q Substitution - Missense 18:36156593-36156593 + TCGA-BP-5201-01 COSM473803 c.1270T>G p.S424A Substitution - Missense 18:36154994-36154994 + AOCS-034-1-0 COSM4140073 c.588+9G>T p.? Unknown 18:36141210-36141210 + TCGA-D1-A16Y-01 COSM988210 c.2348G>A p.R783K Substitution - Missense 18:36174508-36174508 + TCGA-BH-A1F6-01 COSM5833503 c.243delA p.G82fs*6 Deletion - Frameshift 18:36136332-36136332 + TCGA-A8-A0A6-01 COSM3821410 c.1014T>G p.G338G Substitution - coding silent 18:36146270-36146270 + TCGA-66-2789-01 COSM707910 c.113G>T p.C38F Substitution - Missense 18:36130046-36130046 + TCGA-B5-A11E-01 COSM988209 c.1718T>C p.V573A Substitution - Missense 18:36160961-36160961 + TCGA-AA-3833-01 COSM271239 c.1092G>A p.A364A Substitution - coding silent 18:36146348-36146348 + TCGA-CD-5813-01 COSM4072046 c.900C>T p.V300V Substitution - coding silent 18:36145955-36145955 + CHEWS001 COSM4580398 c.1621delA p.I541fs*70 Deletion - Frameshift 18:36159821-36159821 + CHC1209T COSM4804557 c.1344T>A p.N448K Substitution - Missense 18:36156534-36156534 + 115 COSM5013293 c.2228G>A p.G743E Substitution - Missense 18:36171064-36171064 + TCGA-BR-7707-01 COSM4072051 c.1121A>G p.N374S Substitution - Missense 18:36146377-36146377 + TCGA-BP-4983-01 COSM473804 c.2210G>T p.R737L Substitution - Missense 18:36170196-36170196 + YUCHIME COSM1711210 c.728C>T p.T243I Substitution - Missense 18:36142898-36142898 + TCGA-CG-5721-01 COSM4072044 c.582T>C p.N194N Substitution - coding silent 18:36141195-36141195 + CHC218T COSM4801071 c.304C>A p.H102N Substitution - Missense 18:36138285-36138285 + SNU-C2B COSM2811303 c.379T>A p.C127S Substitution - Missense 18:36138360-36138360 + PT46 COSM5929816 c.83C>T p.P28L Substitution - Missense 18:36130016-36130016 + DN12100 COSM5786747 c.86G>C p.R29T Substitution - Missense 18:36130019-36130019 + PD4006a COSM219357 c.344C>G p.A115G Substitution - Missense 18:36138325-36138325 + TCGA-CF-A1HR-01 COSM417849 c.1468G>T p.D490Y Substitution - Missense 18:36158838-36158838 + 49 COSM1388588 c.913G>A p.V305M Substitution - Missense 18:36145968-36145968 + SNU-C4 COSM4652969 c.692G>A p.C231Y Substitution - Missense 18:36142862-36142862 + TCGA-B5-A0JY-01 COSM988208 c.1201G>T p.E401* Substitution - Nonsense 18:36154925-36154925 + T3094 COSM4680840 c.568delT p.F190fs*35 Deletion - Frameshift 18:36141181-36141181 + TCGA-CK-5916-01 COSM5154384 c.1126-2_1126-1delAG p.? Unknown 18:36154848-36154849 + CSCC-7-T COSM4530215 c.1483G>A p.E495K Substitution - Missense 18:36158853-36158853 + TCGA-D3-A1Q6-06 COSM3525658 c.1866C>T p.F622F Substitution - coding silent 18:36164579-36164579 + TCGA-AK-3428-01 COSM3362509 c.85A>T p.R29* Substitution - Nonsense 18:36130018-36130018 + sysucc-311T COSM5464297 c.234A>C p.L78F Substitution - Missense 18:36136323-36136323 + TCGA-EE-A3JH-06 COSM3525660 c.1881G>C p.K627N Substitution - Missense 18:36164594-36164594 + TCGA-DK-A1AC-01 COSM1303722 c.594G>C p.Q198H Substitution - Missense 18:36142286-36142286 + PD13609a COSM5786747 c.86G>C p.R29T Substitution - Missense 18:36130019-36130019 + TCGA-AD-6889-01 COSM1388592 c.2097C>T p.C699C Substitution - coding silent 18:36170083-36170083 + TCGA-EJ-7783-01 COSM3672667 c.1688+1G>T p.? Unknown 18:36160016-36160016 + TCGA-A2-A0EO-01 COSM438098 c.693C>T p.C231C Substitution - coding silent 18:36142863-36142863 + TCGA-46-3769-01 COSM709602 c.937G>T p.D313Y Substitution - Missense 18:36145992-36145992 + OCC06PT COSM88544 c.742C>G p.Q248E Substitution - Missense 18:36142912-36142912 + TCGA-FJ-A3ZF-01 COSM3796394 c.1914G>A p.W638* Substitution - Nonsense 18:36164627-36164627 + sysucc-1465T COSM5458002 c.1303C>A p.Q435K Substitution - Missense 18:36156493-36156493 + TCGA-EE-A20C-06 COSM3525654 c.139-1G>A p.? Unknown 18:36133237-36133237 + TCGA-AA-3870-01 COSM296288 c.222T>C p.P74P Substitution - coding silent 18:36136311-36136311 + TCGA-CG-5726-01 COSM4072042 c.438T>C p.G146G Substitution - coding silent 18:36138419-36138419 + LUAD-RT-S01818 COSM383927 c.245G>T p.G82V Substitution - Missense 18:36136334-36136334 + TCGA-32-2495-01 COSM3403531 c.1751C>G p.S584* Substitution - Nonsense 18:36160994-36160994 + PDA_081 COSM5000536 c.382A>C p.T128P Substitution - Missense 18:36138363-36138363 + TCGA-CA-6717-01 COSM1388591 c.1707A>C p.E569D Substitution - Missense 18:36160950-36160950 + TCGA-BS-A0UF-01 COSM988207 c.977G>T p.G326V Substitution - Missense 18:36146032-36146032 + ACINAR27 COSM1734242 c.11C>T p.P4L Substitution - Missense 18:36129944-36129944 + TCGA-AN-A046-01 COSM3821411 c.1520A>C p.K507T Substitution - Missense 18:36158890-36158890 + TCGA-JW-A5VH-01 COSM4855038 c.174C>A p.T58T Substitution - coding silent 18:36133273-36133273 + S00472 COSM310862 c.2298G>T p.W766C Substitution - Missense 18:36171134-36171134 + TCGA-C8-A130-01 COSM438097 c.557G>C p.R186T Substitution - Missense 18:36141170-36141170 + TCGA-A8-A07R-01 COSM3821413 c.2186G>T p.C729F Substitution - Missense 18:36170172-36170172 + HCC1187 COSM32599 c.1739_1740delCT p.L581fs*6 Deletion - Frameshift 18:36160982-36160983 + HCC021T COSM5815405 c.142A>T p.R48W Substitution - Missense 18:36133241-36133241 + TCGA-DK-A1AC-01 COSM1303723 c.659G>C p.R220T Substitution - Missense 18:36142829-36142829 + BD57T COSM2811333 c.1403G>A p.R468Q Substitution - Missense 18:36156593-36156593 + Pat_59_B COSM5854161 c.856G>A p.V286I Substitution - Missense 18:36144998-36144998 + HCC1187 COSM24382 c.1741_1742delCT p.L581fs*6 Deletion - Frameshift 18:36160984-36160985 + C086 COSM5530442 c.390C>T p.I130I Substitution - coding silent 18:36138371-36138371 + 28 COSM1388588 c.913G>A p.V305M Substitution - Missense 18:36145968-36145968 + 203T COSM1726669 c.1177G>C p.D393H Substitution - Missense 18:36154901-36154901 + 01-P1216 COSM4580396 c.1129G>A p.E377K Substitution - Missense 18:36154853-36154853 + CP66-MEL COSM24379 c.2336C>T p.T779I Substitution - Missense 18:36174496-36174496 + HT115 COSM2811335 c.1421T>G p.F474C Substitution - Missense 18:36156611-36156611 + HX17T COSM1611214 c.844C>T p.H282Y Substitution - Missense 18:36144986-36144986 + TCGA-BR-8680-01 COSM4072049 c.998G>A p.R333Q Substitution - Missense 18:36146254-36146254 + 24 COSM1388588 c.913G>A p.V305M Substitution - Missense 18:36145968-36145968 + T1844 COSM4680842 c.893-2delA p.? Unknown 18:36145946-36145946 + TCGA-F5-6814-01 COSM3422158 c.2209C>T p.R737* Substitution - Nonsense 18:36170195-36170195 + HT115 COSM2811345 c.1695G>A p.G565G Substitution - coding silent 18:36160938-36160938 + SW48 COSM2811357 c.1946C>A p.P649H Substitution - Missense 18:36164659-36164659 + S00472 COSM310862 c.2298G>T p.W766C Substitution - Missense 18:36171134-36171134 + BCB307T COSM4955840 c.2037T>C p.P679P Substitution - coding silent 18:36167183-36167183 + T43 COSM5343120 c.1561G>A p.E521K Substitution - Missense 18:36159761-36159761 + TCGA-AA-3715-01 COSM269094 c.1867T>C p.S623P Substitution - Missense 18:36164580-36164580 + TCGA-43-5668-01 COSM709603 c.672A>T p.L224L Substitution - coding silent 18:36142842-36142842 + YUCHIME COSM1685756 c.730delT p.S244fs*2 Deletion - Frameshift 18:36142900-36142900 + TCGA-AC-A23H-01 COSM3821408 c.55C>T p.R19W Substitution - Missense 18:36129988-36129988 + PDA_030 COSM4999429 c.2183T>C p.V728A Substitution - Missense 18:36170169-36170169 + ME024T COSM226361 c.506T>A p.F169Y Substitution - Missense 18:36138855-36138855 + TCGA-66-2787-01 COSM709601 c.998G>T p.R333L Substitution - Missense 18:36146254-36146254 + TCGA-A2-A0T5-01 COSM3821415 c.2198A>C p.H733P Substitution - Missense 18:36170184-36170184 + TCGA-FD-A3B4-01 COSM1303724 c.1467A>T p.Q489H Substitution - Missense 18:36158837-36158837 + TCGA-AD-6889-01 COSM1388587 c.510G>A p.L170L Substitution - coding silent 18:36138859-36138859 + PCSI_0472_Pa_P_526 COSM5031554 c.2019G>T p.W673C Substitution - Missense 18:36167165-36167165 + TCGA-AA-A010-01 COSM280781 c.1907G>A p.R636Q Substitution - Missense 18:36164620-36164620 + HCC35 COSM1611215 c.1854G>A p.T618T Substitution - coding silent 18:36164567-36164567 + TCGA-FW-A5DX-01 COSM3525656 c.371C>T p.P124L Substitution - Missense 18:36138352-36138352 + CHC218T COSM4801071 c.304C>A p.H102N Substitution - Missense 18:36138285-36138285 + HCC35T COSM1611215 c.1854G>A p.T618T Substitution - coding silent 18:36164567-36164567 + AOCS-034-3-8 COSM4140073 c.588+9G>T p.? Unknown 18:36141210-36141210 + 39 COSM1388588 c.913G>A p.V305M Substitution - Missense 18:36145968-36145968 + BCB307T COSM4955840 c.2037T>C p.P679P Substitution - coding silent 18:36167183-36167183 + CCK81 COSM2811382 c.2454A>G p.I818M Substitution - Missense 18:36174614-36174614 + CSCC-16-T COSM4450108 c.524-2A>G p.? Unknown 18:36141135-36141135 + NB-3180 COSM1284724 c.479G>A p.G160E Substitution - Missense 18:36138828-36138828 + HCC32 COSM1611213 c.805A>G p.I269V Substitution - Missense 18:36144947-36144947 + TCGA-CG-4305-01 COSM4072040 c.165T>C p.N55N Substitution - coding silent 18:36133264-36133264 + PDA_046 COSM5000536 c.382A>C p.T128P Substitution - Missense 18:36138363-36138363 + HCC6T COSM1611212 c.350delA p.Y117fs*13 Deletion - Frameshift 18:36138331-36138331 + CSCC-62-T COSM4453106 c.253A>T p.N85Y Substitution - Missense 18:36136342-36136342 + I2L-P10-Tumor-Organoid COSM5364533 c.1953C>T p.F651F Substitution - coding silent 18:36164666-36164666 + CHC1746T COSM4787958 c.116C>G p.S39C Substitution - Missense 18:36130049-36130049 + ESO-0115 COSM1251138 c.1083C>T p.F361F Substitution - coding silent 18:36146339-36146339 + 7 COSM3734850 c.197delG p.W66fs*1 Deletion - Frameshift 18:36133296-36133296 + TCGA-CG-5721-01 COSM4072052 c.2115T>C p.C705C Substitution - coding silent 18:36170101-36170101 + LC_C13 COSM1189679 c.670C>G p.L224V Substitution - Missense 18:36142840-36142840 + TCGA-BR-7703-01 COSM4072048 c.997C>T p.R333* Substitution - Nonsense 18:36146253-36146253 + TCGA-BR-6452-01 COSM4072050 c.1094T>C p.L365S Substitution - Missense 18:36146350-36146350 + TCGA-BR-8360-01 COSM1611215 c.1854G>A p.T618T Substitution - coding silent 18:36164567-36164567 + HCC063T COSM5812826 c.617A>G p.H206R Substitution - Missense 18:36142309-36142309 + RK134_C01 COSM3701358 c.2077-5A>G p.? Unknown 18:36170058-36170058 + HCC32T COSM1611213 c.805A>G p.I269V Substitution - Missense 18:36144947-36144947 + YUKAT COSM5388092 c.945C>T p.T315T Substitution - coding silent 18:36146000-36146000 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.8739 18q12.2 2401519|CGAP|BC032553|A/C|coding|Ala755Ala|2289|Candidate; 2401524|CGAP|BC032553|A/C|coding|Pro128Thr|406|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.Q258H c.774A>C 18 33721155 MM A G Missense p.D768G c.2303A>G 18 33750057 HNSC A T Missense p.Q554H c.1662A>T 18 33738800 BLCA A T Nonsense p.R29* c.85A>T 18 33709981 RCCC A T Synonymous p.L289L c.867A>T 18 33722805 LUSC C G Missense p.T406S c.1217C>G 18 33726241 BRCA C G Nonsense p.S649* c.1946C>G 18 33740957 GBM C G Synonymous p.L268L c.804C>G 18 33722264 BLCA C T IntronicSNV . c.288+80C>T 18 33716420 CM C T IntronicSNV . c.289-13C>T 18 33718220 CM C T Missense p.A580V c.1739C>T 18 33739707 LGG C T Missense p.R514W c.1540C>T 18 33736498 CM C T Synonymous p.C296C c.888C>T 18 33722826 BRCA C T Synonymous p.F426F c.1278C>T 18 33726302 ESCA C T Synonymous p.F687F c.2061C>T 18 33744542 CM C T Synonymous p.V365V c.1095C>T 18 33725918 STAD G A Missense p.D474N c.1420G>A 18 33734912 MM G A Missense p.G160E c.479G>A 18 33718791 NB G A Missense p.G346S c.1036G>A 18 33724946 STAD G A Missense p.R848K c.2543G>A 18 33754471 UCEC G A SpliceAcceptorSNV . c.139-1G>A 18 33713200 CM G C Missense p.K692N c.2076G>C 18 33744557 CM G C Missense p.R251T c.752G>C 18 33721133 BRCA G C Missense p.W819C c.2457G>C 18 33751061 LUAD G T Missense p.C38F c.113G>T 18 33710009 LUSC G T Missense p.D378Y c.1132G>T 18 33725955 LUSC G T Missense p.D555Y c.1663G>T 18 33738801 BLCA G T Missense p.R398L c.1193G>T 18 33726217 LUSC G T Missense p.R802L c.2405G>T 18 33750159 RCCC G T Missense p.V351L c.1051G>T 18 33724961 LUAD G T Missense p.W483L c.1448G>T 18 33734940 LUAD G T Missense p.W831C c.2493G>T 18 33751097 SCLC G T SpliceDonorSNV . c.1883+1G>T 18 33739979 PRAD TA - IntronicDeletion . c.218-167_218-166delAT 18 33716102 ESCA T A Missense p.F169Y c.506T>A 18 33718818 CM T A Missense p.L212Q c.635T>A 18 33719493 HC T C Missense p.Y504H c.1510T>C 18 33736468 THCA T C Synonymous p.G146G c.438T>C 18 33718382 STAD T C Synonymous p.N55N c.165T>C 18 33713227 STAD T C Synonymous p.P74P c.222T>C 18 33716274 COREAD T G Missense p.L797R c.2390T>G 18 33750144 HNSC T G Missense p.S489A c.1465T>G 18 33734957 RCCC - T IntronicInsertion . c.991+147dupT 18 33723066 ESCA