Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 5 54410099 54410099 + Missense_Mutation SNP G G A TCGA-OR-A5KB-01A-11D-A30A-10 TCGA-OR-A5KB-11A-11D-A30A-10 g.chr5:54410099G>A c.1507C>T c.(1507-1509)Cgg>Tgg p.R503W BLCA 5 54410097 54410097 + Silent SNP C C T TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 g.chr5:54410097C>T c.1509G>A c.(1507-1509)cgG>cgA p.R503R BLCA 5 54416329 54416329 + Missense_Mutation SNP C C A TCGA-LT-A5Z6-01A-11D-A289-08 TCGA-LT-A5Z6-10A-01D-A289-08 g.chr5:54416329C>A c.1265G>T c.(1264-1266)gGa>gTa p.G422V BLCA 5 54420851 54420851 + Nonsense_Mutation SNP G G C TCGA-K4-A54R-01A-11D-A26M-08 TCGA-K4-A54R-10A-01D-A26K-08 g.chr5:54420851G>C c.995C>G c.(994-996)tCa>tGa p.S332* BLCA 5 54436170 54436170 + Silent SNP G G C TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 g.chr5:54436170G>C c.552C>G c.(550-552)ctC>ctG p.L184L BLCA 5 54442574 54442574 + Silent SNP T T C TCGA-KQ-A41N-01A-11D-A339-08 TCGA-KQ-A41N-10D-01D-A339-08 g.chr5:54442574T>C c.237A>G c.(235-237)caA>caG p.Q79Q BLCA 5 54468427 54468427 + Missense_Mutation SNP C C G TCGA-XF-A9SZ-01A-11D-A391-08 TCGA-XF-A9SZ-10A-01D-A394-08 g.chr5:54468427C>G c.115G>C c.(115-117)Gat>Cat p.D39H BRCA 5 54429340 54429340 + Silent SNP G G C TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 g.chr5:54429340G>C c.597C>G c.(595-597)gtC>gtG p.V199V BRCA 5 54436170 54436170 + Silent SNP G G C TCGA-A2-A0CM-01A-31W-A050-09 TCGA-A2-A0CM-10A-01W-A055-09 g.chr5:54436170G>C c.552C>G c.(550-552)ctC>ctG p.L184L BRCA 5 54442678 54442678 + Missense_Mutation SNP C C G TCGA-A8-A08F-01A-11W-A019-09 TCGA-A8-A08F-10A-01W-A021-09 g.chr5:54442678C>G c.133G>C c.(133-135)Gat>Cat p.D45H CESC 5 54420851 54420851 + Nonsense_Mutation SNP G G C TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 g.chr5:54420851G>C c.995C>G c.(994-996)tCa>tGa p.S332* CHOL 5 54442593 54442593 + Missense_Mutation SNP A A C TCGA-W5-AA39-01A-11D-A417-09 TCGA-W5-AA39-10A-01D-A41A-09 g.chr5:54442593A>C c.218T>G c.(217-219)aTt>aGt p.I73S COAD 5 54416315 54416315 + Missense_Mutation SNP G G A TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr5:54416315G>A c.1279C>T c.(1279-1281)Cgc>Tgc p.R427C COAD 5 54420640 54420640 + Silent SNP C C T TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr5:54420640C>T c.1206G>A c.(1204-1206)acG>acA p.T402T COAD 5 54420694 54420694 + Silent SNP G G A TCGA-CA-5254-01A-21D-1835-10 TCGA-CA-5254-10A-01D-1835-10 g.chr5:54420694G>A c.1152C>T c.(1150-1152)caC>caT p.H384H COAD 5 54420700 54420700 + Nonsense_Mutation SNP C C T TCGA-AA-A01Q-01A-01W-A005-10 TCGA-AA-A01Q-10A-01W-A005-10 g.chr5:54420700C>T c.1146G>A c.(1144-1146)tgG>tgA p.W382* COAD 5 54423154 54423154 + Missense_Mutation SNP C C T TCGA-AA-3696-01A-01W-0900-09 TCGA-AA-3696-10A-01W-0900-09 g.chr5:54423154C>T c.920G>A c.(919-921)cGg>cAg p.R307Q COAD 5 54424446 54424446 + Splice_Site SNP C C A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr5:54424446C>A c.e7-1 COAD 5 54436157 54436157 + Missense_Mutation SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr5:54436157C>T c.565G>A c.(565-567)Gaa>Aaa p.E189K COAD 5 54436176 54436176 + Missense_Mutation SNP C C T TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr5:54436176C>T c.546G>A c.(544-546)atG>atA p.M182I COAD 5 54439418 54439418 + Missense_Mutation SNP T T A TCGA-G4-6625-01A-21D-1771-10 TCGA-G4-6625-11A-01D-1771-10 g.chr5:54439418T>A c.409A>T c.(409-411)Aac>Tac p.N137Y COAD 5 54439460 54439460 + Nonsense_Mutation SNP C C A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr5:54439460C>A c.367G>T c.(367-369)Gaa>Taa p.E123* COAD 5 54442585 54442585 + Missense_Mutation SNP T T A TCGA-AA-3489-01A-21D-1835-10 TCGA-AA-3489-11A-01D-1835-10 g.chr5:54442585T>A c.226A>T c.(226-228)Agg>Tgg p.R76W COADREAD 5 54416315 54416315 + Missense_Mutation SNP G G A TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr5:54416315G>A c.1279C>T c.(1279-1281)Cgc>Tgc p.R427C COADREAD 5 54420640 54420640 + Silent SNP C C T TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr5:54420640C>T c.1206G>A c.(1204-1206)acG>acA p.T402T COADREAD 5 54420694 54420694 + Silent SNP G G A TCGA-CA-5254-01A-21D-1835-10 TCGA-CA-5254-10A-01D-1835-10 g.chr5:54420694G>A c.1152C>T c.(1150-1152)caC>caT p.H384H COADREAD 5 54420700 54420700 + Nonsense_Mutation SNP C C T TCGA-AA-A01Q-01A-01W-A005-10 TCGA-AA-A01Q-10A-01W-A005-10 g.chr5:54420700C>T c.1146G>A c.(1144-1146)tgG>tgA p.W382* COADREAD 5 54423154 54423154 + Missense_Mutation SNP C C T TCGA-AA-3696-01A-01W-0900-09 TCGA-AA-3696-10A-01W-0900-09 g.chr5:54423154C>T c.920G>A c.(919-921)cGg>cAg p.R307Q COADREAD 5 54424363 54424363 + Missense_Mutation SNP G G C TCGA-DC-6155-01A-11D-1657-10 TCGA-DC-6155-10A-01D-1657-10 g.chr5:54424363G>C c.780C>G c.(778-780)aaC>aaG p.N260K COADREAD 5 54424446 54424446 + Splice_Site SNP C C A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr5:54424446C>A c.e7-1 COADREAD 5 54436157 54436157 + Missense_Mutation SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr5:54436157C>T c.565G>A c.(565-567)Gaa>Aaa p.E189K COADREAD 5 54436176 54436176 + Missense_Mutation SNP C C T TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr5:54436176C>T c.546G>A c.(544-546)atG>atA p.M182I COADREAD 5 54439418 54439418 + Missense_Mutation SNP T T A TCGA-G4-6625-01A-21D-1771-10 TCGA-G4-6625-11A-01D-1771-10 g.chr5:54439418T>A c.409A>T c.(409-411)Aac>Tac p.N137Y COADREAD 5 54439460 54439460 + Nonsense_Mutation SNP C C A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr5:54439460C>A c.367G>T c.(367-369)Gaa>Taa p.E123* COADREAD 5 54442585 54442585 + Missense_Mutation SNP T T A TCGA-AA-3489-01A-21D-1835-10 TCGA-AA-3489-11A-01D-1835-10 g.chr5:54442585T>A c.226A>T c.(226-228)Agg>Tgg p.R76W DLBC 5 54424381 54424381 + Silent SNP G G A TCGA-G8-6909-01A-11D-2210-10 TCGA-G8-6909-14A-01D-2210-10 g.chr5:54424381G>A c.762C>T c.(760-762)taC>taT p.Y254Y GBM 5 54423154 54423154 + Missense_Mutation SNP C C T TCGA-27-1831-01A-01D-1494-08 TCGA-27-1831-10A-01D-1494-08 g.chr5:54423154C>T c.920G>A c.(919-921)cGg>cAg p.R307Q GBMLGG 5 54423154 54423154 + Missense_Mutation SNP C C T TCGA-27-1831-01A-01D-1494-08 TCGA-27-1831-10A-01D-1494-08 g.chr5:54423154C>T c.920G>A c.(919-921)cGg>cAg p.R307Q GBMLGG 5 54424345 54424345 + Missense_Mutation SNP G G T TCGA-HT-7882-01A-11D-2395-08 TCGA-HT-7882-10A-01D-2396-08 g.chr5:54424345G>T c.798C>A c.(796-798)aaC>aaA p.N266K GBMLGG 5 54429276 54429276 + Missense_Mutation SNP C C T TCGA-HT-7879-01A-11D-2395-08 TCGA-HT-7879-10A-01D-2396-08 g.chr5:54429276C>T c.661G>A c.(661-663)Gtg>Atg p.V221M GBMLGG 5 54436230 54436230 + Silent SNP G G A TCGA-CS-4942-01A-01D-1468-08 TCGA-CS-4942-10A-01D-1468-08 g.chr5:54436230G>A c.492C>T c.(490-492)tgC>tgT p.C164C HNSC 5 54420831 54420831 + Missense_Mutation SNP G G C TCGA-CN-A6V3-01A-12D-A34J-08 TCGA-CN-A6V3-10A-01D-A34M-08 g.chr5:54420831G>C c.1015C>G c.(1015-1017)Cat>Gat p.H339D HNSC 5 54429249 54429249 + Missense_Mutation SNP T T A TCGA-BB-A5HZ-01A-21D-A28R-08 TCGA-BB-A5HZ-10A-01D-A28U-08 g.chr5:54429249T>A c.688A>T c.(688-690)Aat>Tat p.N230Y HNSC 5 54442506 54442509 + Frame_Shift_Del DEL GCTT GCTT - TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 g.chr5:54442506_54442509delGCTT c.302_305delAAGC c.(301-306)gaagctfs p.EA101fs KIPAN 5 54415634 54415634 + Missense_Mutation SNP A A C TCGA-B0-4815-01A-01D-1501-10 TCGA-B0-4815-11A-02D-1501-10 g.chr5:54415634A>C c.1454T>G c.(1453-1455)tTt>tGt p.F485C KIPAN 5 54429246 54429246 + Missense_Mutation SNP C C A TCGA-BQ-5875-01A-11D-1589-08 TCGA-BQ-5875-11A-01D-1589-08 g.chr5:54429246C>A c.691G>T c.(691-693)Gac>Tac p.D231Y KIRC 5 54415634 54415634 + Missense_Mutation SNP A A C TCGA-B0-4815-01A-01D-1501-10 TCGA-B0-4815-11A-02D-1501-10 g.chr5:54415634A>C c.1454T>G c.(1453-1455)tTt>tGt p.F485C KIRP 5 54429246 54429246 + Missense_Mutation SNP C C A TCGA-BQ-5875-01A-11D-1589-08 TCGA-BQ-5875-11A-01D-1589-08 g.chr5:54429246C>A c.691G>T c.(691-693)Gac>Tac p.D231Y LGG 5 54424345 54424345 + Missense_Mutation SNP G G T TCGA-HT-7882-01A-11D-2395-08 TCGA-HT-7882-10A-01D-2396-08 g.chr5:54424345G>T c.798C>A c.(796-798)aaC>aaA p.N266K LGG 5 54429276 54429276 + Missense_Mutation SNP C C T TCGA-HT-7879-01A-11D-2395-08 TCGA-HT-7879-10A-01D-2396-08 g.chr5:54429276C>T c.661G>A c.(661-663)Gtg>Atg p.V221M LGG 5 54436230 54436230 + Silent SNP G G A TCGA-CS-4942-01A-01D-1468-08 TCGA-CS-4942-10A-01D-1468-08 g.chr5:54436230G>A c.492C>T c.(490-492)tgC>tgT p.C164C LIHC 5 54424346 54424346 + Frame_Shift_Del DEL T T - TCGA-G3-A3CJ-01A-11D-A20W-10 TCGA-G3-A3CJ-10A-01D-A20W-10 g.chr5:54424346delT c.797delA c.(796-798)aacfs p.N266fs LIHC 5 54429246 54429246 + Missense_Mutation SNP C C G TCGA-DD-AAC8-01A-11D-A40R-10 TCGA-DD-AAC8-10A-01D-A40U-10 g.chr5:54429246C>G c.691G>C c.(691-693)Gac>Cac p.D231H LIHC 5 54429259 54429259 + Silent SNP A A T TCGA-DD-AAC8-01A-11D-A40R-10 TCGA-DD-AAC8-10A-01D-A40U-10 g.chr5:54429259A>T c.678T>A c.(676-678)acT>acA p.T226T LIHC 5 54442574 54442574 + Missense_Mutation SNP T T G TCGA-G3-A3CK-01A-11D-A20W-10 TCGA-G3-A3CK-10A-01D-A20W-10 g.chr5:54442574T>G c.237A>C c.(235-237)caA>caC p.Q79H LIHC 5 54468477 54468477 + Splice_Site SNP T T C TCGA-FV-A2QQ-01A-11D-A22F-10 TCGA-FV-A2QQ-10B-01D-A22F-10 g.chr5:54468477T>C c.65A>G c.(64-66)gAa>gGa p.E22G LUAD 5 54410071 54410071 + Missense_Mutation SNP G G A TCGA-78-8662-01A-11D-2393-08 TCGA-78-8662-10A-01D-2393-08 g.chr5:54410071G>A c.1535C>T c.(1534-1536)aCg>aTg p.T512M LUAD 5 54415663 54415663 + Silent SNP G G T TCGA-17-Z031-01A-01W-0746-08 TCGA-17-Z031-11A-01W-0746-08 g.chr5:54415663G>T c.1425C>A c.(1423-1425)acC>acA p.T475T LUAD 5 54415705 54415705 + Silent SNP T T G TCGA-44-6777-01A-11D-1855-08 TCGA-44-6777-10A-01D-1855-08 g.chr5:54415705T>G c.1383A>C c.(1381-1383)gcA>gcC p.A461A LUAD 5 54416314 54416314 + Missense_Mutation SNP C C A TCGA-97-A4LX-01A-11D-A24P-08 TCGA-97-A4LX-10A-01D-A24P-08 g.chr5:54416314C>A c.1280G>T c.(1279-1281)cGc>cTc p.R427L LUAD 5 54416314 54416314 + Missense_Mutation SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 g.chr5:54416314C>A c.1280G>T c.(1279-1281)cGc>cTc p.R427L LUAD 5 54416315 54416315 + Missense_Mutation SNP G G T TCGA-55-8507-01A-11D-2393-08 TCGA-55-8507-10A-01D-2393-08 g.chr5:54416315G>T c.1279C>A c.(1279-1281)Cgc>Agc p.R427S LUAD 5 54420658 54420658 + Missense_Mutation SNP T T A TCGA-86-8673-01A-11D-2393-08 TCGA-86-8673-10A-01D-2393-08 g.chr5:54420658T>A c.1188A>T c.(1186-1188)aaA>aaT p.K396N LUAD 5 54420663 54420663 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 g.chr5:54420663G>T c.1183C>A c.(1183-1185)Ctg>Atg p.L395M LUAD 5 54420672 54420672 + Missense_Mutation SNP C C A TCGA-17-Z049-01A-01W-0746-08 TCGA-17-Z049-11A-01W-0747-08 g.chr5:54420672C>A c.1174G>T c.(1174-1176)Ggc>Tgc p.G392C LUAD 5 54420695 54420695 + Missense_Mutation SNP T T C TCGA-55-8207-01A-11D-2238-08 TCGA-55-8207-10A-01D-2238-08 g.chr5:54420695T>C c.1151A>G c.(1150-1152)cAc>cGc p.H384R LUAD 5 54420757 54420757 + Missense_Mutation SNP C C G TCGA-17-Z042-01A-01W-0746-08 TCGA-17-Z042-11A-01W-0746-08 g.chr5:54420757C>G c.1089G>C c.(1087-1089)tgG>tgC p.W363C LUAD 5 54423141 54423141 + Missense_Mutation SNP C C A TCGA-44-3918-01A-01D-1105-08 TCGA-44-3918-11A-01D-1105-08 g.chr5:54423141C>A c.933G>T c.(931-933)atG>atT p.M311I LUAD 5 54424357 54424357 + Missense_Mutation SNP A A T TCGA-62-8394-01A-11D-2323-08 TCGA-62-8394-10A-01D-2323-08 g.chr5:54424357A>T c.786T>A c.(784-786)aaT>aaA p.N262K LUAD 5 54429307 54429307 + Silent SNP A A G TCGA-05-4250-01A-01D-1105-08 TCGA-05-4250-10A-01D-1105-08 g.chr5:54429307A>G c.630T>C c.(628-630)ggT>ggC p.G210G LUSC 5 54415739 54415739 + Missense_Mutation SNP G G A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr5:54415739G>A c.1349C>T c.(1348-1350)tCc>tTc p.S450F LUSC 5 54420686 54420686 + Missense_Mutation SNP C C T TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 g.chr5:54420686C>T c.1160G>A c.(1159-1161)gGt>gAt p.G387D LUSC 5 54442562 54442562 + Missense_Mutation SNP C C A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 g.chr5:54442562C>A c.249G>T c.(247-249)agG>agT p.R83S OV 5 54442551 54442551 + Missense_Mutation SNP G G A TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 g.chr5:54442551G>A c.260C>T c.(259-261)tCt>tTt p.S87F PAAD 5 54416252 54416252 + Splice_Site SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr5:54416252C>T c.e10+1 PAAD 5 54423083 54423083 + Splice_Site DEL A A - TCGA-3E-AAAZ-01A-11D-A38G-08 TCGA-3E-AAAZ-10A-01D-A38J-08 g.chr5:54423083delA c.e8+1 PAAD 5 54442668 54442668 + Missense_Mutation SNP T T C TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr5:54442668T>C c.143A>G c.(142-144)aAt>aGt p.N48S PCPG 5 54420759 54420759 + Missense_Mutation SNP A A G TCGA-W2-A7H7-01A-11D-A35I-08 TCGA-W2-A7H7-10A-01D-A35G-08 g.chr5:54420759A>G c.1087T>C c.(1087-1089)Tgg>Cgg p.W363R PRAD 5 54410070 54410070 + Silent SNP C C T TCGA-H9-A6BY-01A-11D-A30E-08 TCGA-H9-A6BY-10A-01D-A30H-08 g.chr5:54410070C>T c.1536G>A c.(1534-1536)acG>acA p.T512T PRAD 5 54420671 54420671 + Missense_Mutation SNP C C T TCGA-KK-A6E3-01A-21D-A30E-08 TCGA-KK-A6E3-11A-11D-A30H-08 g.chr5:54420671C>T c.1175G>A c.(1174-1176)gGc>gAc p.G392D PRAD 5 54439343 54439343 + Nonsense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr5:54439343G>A c.484C>T c.(484-486)Cag>Tag p.Q162* PRAD 5 54442517 54442518 + Frame_Shift_Ins INS - - TC TCGA-J9-A52D-01A-11D-A29Q-08 TCGA-J9-A52D-10A-01D-A29Q-08 g.chr5:54442517_54442518insTC c.293_294insGA c.(292-294)tacfs p.Y98fs READ 5 54424363 54424363 + Missense_Mutation SNP G G C TCGA-DC-6155-01A-11D-1657-10 TCGA-DC-6155-10A-01D-1657-10 g.chr5:54424363G>C c.780C>G c.(778-780)aaC>aaG p.N260K SKCM 5 54416286 54416286 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr5:54416286C>T c.1308G>A c.(1306-1308)ggG>ggA p.G436G SKCM 5 54416372 54416372 + Missense_Mutation SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 g.chr5:54416372C>T c.1222G>A c.(1222-1224)Gat>Aat p.D408N SKCM 5 54416373 54416373 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 g.chr5:54416373C>T c.1221G>A c.(1219-1221)atG>atA p.M407I SKCM 5 54420689 54420689 + Missense_Mutation SNP G G A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 g.chr5:54420689G>A c.1157C>T c.(1156-1158)cCa>cTa p.P386L SKCM 5 54420698 54420698 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr5:54420698G>A c.1148C>T c.(1147-1149)cCc>cTc p.P383L SKCM 5 54420789 54420789 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chr5:54420789G>A c.1057C>T c.(1057-1059)Cgc>Tgc p.R353C SKCM 5 54420804 54420804 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr5:54420804G>A c.1042C>T c.(1042-1044)Cat>Tat p.H348Y SKCM 5 54423127 54423127 + Missense_Mutation SNP G G A TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr5:54423127G>A c.947C>T c.(946-948)tCa>tTa p.S316L SKCM 5 54423134 54423134 + Missense_Mutation SNP G G A TCGA-EE-A182-06A-11D-A196-08 TCGA-EE-A182-10A-01D-A198-08 g.chr5:54423134G>A c.940C>T c.(940-942)Cat>Tat p.H314Y SKCM 5 54429240 54429240 + Splice_Site SNP A A G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 g.chr5:54429240A>G c.697T>C c.(697-699)Tat>Cat p.Y233H SKCM 5 54429251 54429251 + Missense_Mutation SNP C C T TCGA-EE-A3J5-06A-11D-A20D-08 TCGA-EE-A3J5-10A-01D-A20D-08 g.chr5:54429251C>T c.686G>A c.(685-687)cGa>cAa p.R229Q SKCM 5 54429267 54429267 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr5:54429267G>A c.670C>T c.(670-672)Cat>Tat p.H224Y SKCM 5 54439467 54439467 + Silent SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 g.chr5:54439467G>A c.360C>T c.(358-360)tcC>tcT p.S120S

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 5 54404206 54404206 single base substitution G A downstream_gene_variant BLCA-US 5 54404209 54404209 single base substitution G A downstream_gene_variant BLCA-US 5 54410097 54410097 single base substitution C T 3_prime_UTR_variant BLCA-US 5 54410097 54410097 single base substitution C T synonymous_variant R461R 1383G>A BLCA-US 5 54410097 54410097 single base substitution C T synonymous_variant R499R 1497G>A BLCA-US 5 54410097 54410097 single base substitution C T synonymous_variant R503R 1509G>A BLCA-US 5 54436170 54436170 single base substitution G C exon_variant BLCA-US 5 54436170 54436170 single base substitution G C synonymous_variant L163L 489C>G BLCA-US 5 54436170 54436170 single base substitution G C synonymous_variant L184L 552C>G BOCA-FR 5 54409662 54409662 single base substitution A T 3_prime_UTR_variant BOCA-FR 5 54409662 54409662 single base substitution A T downstream_gene_variant BRCA-EU 5 54405933 54405933 single base substitution C T downstream_gene_variant BRCA-EU 5 54406605 54406605 single base substitution G T downstream_gene_variant BRCA-EU 5 54407705 54407705 single base substitution T C downstream_gene_variant BRCA-EU 5 54409178 54409178 insertion of <=200bp - A 3_prime_UTR_variant BRCA-EU 5 54409178 54409178 insertion of <=200bp - A downstream_gene_variant BRCA-EU 5 54409836 54409836 single base substitution G C 3_prime_UTR_variant BRCA-EU 5 54409836 54409836 single base substitution G C downstream_gene_variant BRCA-EU 5 54409860 54409860 single base substitution G C 3_prime_UTR_variant BRCA-EU 5 54409860 54409860 single base substitution G C downstream_gene_variant BRCA-EU 5 54410149 54410149 single base substitution G C intron_variant BRCA-EU 5 54410319 54410319 single base substitution G C intron_variant BRCA-EU 5 54414179 54414179 single base substitution G A downstream_gene_variant BRCA-EU 5 54414179 54414179 single base substitution G A intron_variant BRCA-EU 5 54414239 54414239 single base substitution G A downstream_gene_variant BRCA-EU 5 54414239 54414239 single base substitution G A intron_variant BRCA-EU 5 54416431 54416431 single base substitution T A intron_variant BRCA-EU 5 54416841 54416841 single base substitution A G intron_variant BRCA-EU 5 54418416 54418416 single base substitution C T intron_variant BRCA-EU 5 54419416 54419416 single base substitution G A intron_variant BRCA-EU 5 54419555 54419555 single base substitution T C intron_variant BRCA-EU 5 54419632 54419632 single base substitution G T intron_variant BRCA-EU 5 54419681 54419681 single base substitution G T intron_variant BRCA-EU 5 54419842 54419842 single base substitution G T intron_variant BRCA-EU 5 54419985 54419985 single base substitution G C intron_variant BRCA-EU 5 54420172 54420172 single base substitution G A intron_variant BRCA-EU 5 54421050 54421050 single base substitution G C intron_variant BRCA-EU 5 54422315 54422316 deletion of <=200bp AC - intron_variant BRCA-EU 5 54423579 54423579 single base substitution C A intron_variant BRCA-EU 5 54424109 54424109 single base substitution G A intron_variant BRCA-EU 5 54424556 54424556 single base substitution C G intron_variant BRCA-EU 5 54424578 54424578 single base substitution C T intron_variant BRCA-EU 5 54425234 54425234 single base substitution C T intron_variant BRCA-EU 5 54425290 54425290 single base substitution C G intron_variant BRCA-EU 5 54425697 54425697 deletion of <=200bp A - intron_variant BRCA-EU 5 54425900 54425900 single base substitution T C intron_variant BRCA-EU 5 54425917 54425917 single base substitution G A intron_variant BRCA-EU 5 54426677 54426677 single base substitution A T downstream_gene_variant BRCA-EU 5 54426677 54426677 single base substitution A T intron_variant BRCA-EU 5 54427167 54427167 single base substitution G C downstream_gene_variant BRCA-EU 5 54427167 54427167 single base substitution G C intron_variant BRCA-EU 5 54427245 54427245 single base substitution G A downstream_gene_variant BRCA-EU 5 54427245 54427245 single base substitution G A intron_variant BRCA-EU 5 54427344 54427344 single base substitution A G downstream_gene_variant BRCA-EU 5 54427344 54427344 single base substitution A G intron_variant BRCA-EU 5 54427373 54427373 single base substitution G C downstream_gene_variant BRCA-EU 5 54427373 54427373 single base substitution G C intron_variant BRCA-EU 5 54427385 54427385 single base substitution C G downstream_gene_variant BRCA-EU 5 54427385 54427385 single base substitution C G intron_variant BRCA-EU 5 54427805 54427805 single base substitution C T downstream_gene_variant BRCA-EU 5 54427805 54427805 single base substitution C T intron_variant BRCA-EU 5 54427941 54427941 single base substitution C A downstream_gene_variant BRCA-EU 5 54427941 54427941 single base substitution C A intron_variant BRCA-EU 5 54428395 54428395 single base substitution G C downstream_gene_variant BRCA-EU 5 54428395 54428395 single base substitution G C intron_variant BRCA-EU 5 54428782 54428782 single base substitution C G downstream_gene_variant BRCA-EU 5 54428782 54428782 single base substitution C G intron_variant BRCA-EU 5 54430011 54430011 single base substitution C G downstream_gene_variant BRCA-EU 5 54430011 54430011 single base substitution C G intron_variant BRCA-EU 5 54430295 54430295 deletion of <=200bp A - downstream_gene_variant BRCA-EU 5 54430295 54430295 deletion of <=200bp A - intron_variant BRCA-EU 5 54434678 54434678 single base substitution G T intron_variant BRCA-EU 5 54435345 54435345 single base substitution G C intron_variant BRCA-EU 5 54438044 54438044 single base substitution G T intron_variant BRCA-EU 5 54438075 54438075 single base substitution G T intron_variant BRCA-EU 5 54438437 54438437 single base substitution C T intron_variant BRCA-EU 5 54438561 54438561 single base substitution C T intron_variant BRCA-EU 5 54439124 54439124 single base substitution T C intron_variant BRCA-EU 5 54439316 54439316 single base substitution C A intron_variant BRCA-EU 5 54439486 54439486 single base substitution T A intron_variant BRCA-EU 5 54439856 54439856 single base substitution G C intron_variant BRCA-EU 5 54442178 54442178 single base substitution T C intron_variant BRCA-EU 5 54443165 54443165 insertion of <=200bp - GTTTTATATATTTATATATTATATAAACATAAATATGTTAC intron_variant BRCA-EU 5 54443708 54443708 single base substitution G A intron_variant BRCA-EU 5 54444586 54444586 single base substitution C A intron_variant BRCA-EU 5 54446373 54446373 single base substitution C A intron_variant BRCA-EU 5 54446709 54446709 single base substitution G C intron_variant BRCA-EU 5 54447318 54447318 single base substitution G A intron_variant BRCA-EU 5 54449406 54449406 single base substitution G C intron_variant BRCA-EU 5 54449567 54449567 single base substitution T G intron_variant BRCA-EU 5 54449610 54449610 single base substitution A T intron_variant BRCA-EU 5 54451729 54451729 single base substitution C G intron_variant BRCA-EU 5 54453601 54453601 single base substitution A T intron_variant BRCA-EU 5 54453799 54453799 single base substitution C T intron_variant BRCA-EU 5 54454852 54454852 single base substitution C T intron_variant BRCA-EU 5 54457833 54457833 single base substitution T C intron_variant BRCA-EU 5 54457862 54457862 single base substitution T C intron_variant BRCA-EU 5 54458900 54458900 single base substitution G A intron_variant BRCA-EU 5 54459327 54459327 deletion of <=200bp T - intron_variant BRCA-EU 5 54459419 54459419 single base substitution C A intron_variant BRCA-EU 5 54459429 54459429 single base substitution G T intron_variant BRCA-EU 5 54459501 54459501 single base substitution A T intron_variant BRCA-EU 5 54460796 54460796 single base substitution T C intron_variant BRCA-EU 5 54462078 54462078 single base substitution C A intron_variant BRCA-EU 5 54462303 54462303 single base substitution G C intron_variant BRCA-EU 5 54462370 54462370 single base substitution G A intron_variant BRCA-EU 5 54463034 54463034 single base substitution G T intron_variant BRCA-EU 5 54463370 54463370 single base substitution A G intron_variant BRCA-EU 5 54464679 54464679 single base substitution G A intron_variant BRCA-EU 5 54465303 54465303 single base substitution A T intron_variant BRCA-EU 5 54465825 54465825 single base substitution C A intron_variant BRCA-EU 5 54467051 54467051 single base substitution G A intron_variant BRCA-EU 5 54467407 54467407 single base substitution A G intron_variant BRCA-EU 5 54467547 54467547 single base substitution C T intron_variant BRCA-EU 5 54469858 54469858 single base substitution C A upstream_gene_variant BRCA-EU 5 54470318 54470318 single base substitution G C upstream_gene_variant BRCA-EU 5 54471040 54471040 single base substitution G A upstream_gene_variant BRCA-EU 5 54471811 54471811 single base substitution G C upstream_gene_variant BRCA-EU 5 54472362 54472362 single base substitution C A upstream_gene_variant BRCA-FR 5 54405933 54405933 single base substitution C T downstream_gene_variant BRCA-FR 5 54410149 54410149 single base substitution G C intron_variant BRCA-FR 5 54418949 54418949 single base substitution G C intron_variant BRCA-FR 5 54427344 54427344 single base substitution A G downstream_gene_variant BRCA-FR 5 54427344 54427344 single base substitution A G intron_variant BRCA-FR 5 54427373 54427373 single base substitution G C downstream_gene_variant BRCA-FR 5 54427373 54427373 single base substitution G C intron_variant BRCA-FR 5 54435345 54435345 single base substitution G C intron_variant BRCA-FR 5 54440440 54440440 single base substitution T C intron_variant BRCA-FR 5 54452453 54452453 single base substitution C A intron_variant BRCA-FR 5 54460796 54460796 single base substitution T C intron_variant BRCA-FR 5 54462078 54462078 single base substitution C A intron_variant BRCA-FR 5 54462303 54462303 single base substitution G C intron_variant BRCA-FR 5 54467051 54467051 single base substitution G A intron_variant BRCA-FR 5 54469858 54469858 single base substitution C A upstream_gene_variant BRCA-UK 5 54407287 54407287 single base substitution G C downstream_gene_variant BRCA-UK 5 54438561 54438561 single base substitution C T intron_variant BRCA-UK 5 54467407 54467407 single base substitution A G intron_variant BRCA-US 5 54404052 54404052 single base substitution T G downstream_gene_variant BRCA-US 5 54429340 54429340 single base substitution G C downstream_gene_variant BRCA-US 5 54429340 54429340 single base substitution G C exon_variant BRCA-US 5 54429340 54429340 single base substitution G C synonymous_variant V199V 597C>G BRCA-US 5 54436170 54436170 single base substitution G C exon_variant BRCA-US 5 54436170 54436170 single base substitution G C synonymous_variant L163L 489C>G BRCA-US 5 54436170 54436170 single base substitution G C synonymous_variant L184L 552C>G BRCA-US 5 54442678 54442678 single base substitution C G exon_variant BRCA-US 5 54442678 54442678 single base substitution C G missense_variant D24H 70G>C BRCA-US 5 54442678 54442678 single base substitution C G missense_variant D45H 133G>C BRCA-US 5 54460112 54460112 insertion of <=200bp - T intron_variant BRCA-US 5 54460122 54460122 single base substitution T G intron_variant BRCA-US 5 54466481 54466481 single base substitution T A intron_variant BTCA-JP 5 54424227 54424227 deletion of <=200bp A - intron_variant BTCA-JP 5 54436203 54436203 single base substitution G A exon_variant BTCA-JP 5 54436203 54436203 single base substitution G A synonymous_variant N152N 456C>T BTCA-JP 5 54436203 54436203 single base substitution G A synonymous_variant N173N 519C>T BTCA-JP 5 54442711 54442711 single base substitution G A intron_variant BTCA-JP 5 54442812 54442812 single base substitution T G intron_variant BTCA-JP 5 54455961 54455961 single base substitution C T intron_variant BTCA-JP 5 54456140 54456140 single base substitution C G intron_variant BTCA-JP 5 54456993 54456993 single base substitution G A intron_variant BTCA-JP 5 54466477 54466477 single base substitution A C intron_variant BTCA-JP 5 54468275 54468275 deletion of <=200bp T - intron_variant BTCA-JP 5 54468716 54468716 single base substitution C T intron_variant CESC-US 5 54420851 54420851 single base substitution G C exon_variant CESC-US 5 54420851 54420851 single base substitution G C missense_variant Q361E 1081C>G CESC-US 5 54420851 54420851 single base substitution G C stop_gained S332* 995C>G CESC-US 5 54456009 54456009 single base substitution G A intron_variant CESC-US 5 54460615 54460615 single base substitution G A intron_variant CLLE-ES 5 54408257 54408257 single base substitution C T downstream_gene_variant CLLE-ES 5 54427865 54427865 single base substitution T A downstream_gene_variant CLLE-ES 5 54427865 54427865 single base substitution T A intron_variant CLLE-ES 5 54434280 54434280 single base substitution G A intron_variant COAD-US 5 54403975 54403975 single base substitution A G downstream_gene_variant COAD-US 5 54405875 54405875 single base substitution C T downstream_gene_variant COAD-US 5 54405923 54405923 single base substitution C T downstream_gene_variant COAD-US 5 54410099 54410099 single base substitution G A 3_prime_UTR_variant COAD-US 5 54410099 54410099 single base substitution G A missense_variant R461W 1381C>T COAD-US 5 54410099 54410099 single base substitution G A missense_variant R499W 1495C>T COAD-US 5 54410099 54410099 single base substitution G A missense_variant R503W 1507C>T COAD-US 5 54416315 54416315 single base substitution G A 3_prime_UTR_variant COAD-US 5 54416315 54416315 single base substitution G A intron_variant COAD-US 5 54416315 54416315 single base substitution G A missense_variant R427C 1279C>T COAD-US 5 54420799 54420799 single base substitution A C 3_prime_UTR_variant COAD-US 5 54420799 54420799 single base substitution A C synonymous_variant V349V 1047T>G COAD-US 5 54423182 54423182 insertion of <=200bp - A splice_region_variant COAD-US 5 54436176 54436176 single base substitution C T exon_variant COAD-US 5 54436176 54436176 single base substitution C T missense_variant M161I 483G>A COAD-US 5 54436176 54436176 single base substitution C T missense_variant M182I 546G>A COAD-US 5 54439418 54439418 single base substitution T A exon_variant COAD-US 5 54439418 54439418 single base substitution T A missense_variant N116Y 346A>T COAD-US 5 54439418 54439418 single base substitution T A missense_variant N137Y 409A>T COAD-US 5 54439460 54439460 single base substitution C A exon_variant COAD-US 5 54439460 54439460 single base substitution C A stop_gained E102* 304G>T COAD-US 5 54439460 54439460 single base substitution C A stop_gained E123* 367G>T COAD-US 5 54442585 54442585 single base substitution T A exon_variant COAD-US 5 54442585 54442585 single base substitution T A missense_variant R55W 163A>T COAD-US 5 54442585 54442585 single base substitution T A missense_variant R76W 226A>T COAD-US 5 54456202 54456202 single base substitution C A intron_variant COCA-CN 5 54404135 54404135 single base substitution T C downstream_gene_variant COCA-CN 5 54412745 54412745 single base substitution T G downstream_gene_variant COCA-CN 5 54412745 54412745 single base substitution T G intron_variant COCA-CN 5 54414877 54414877 single base substitution A C downstream_gene_variant COCA-CN 5 54414877 54414877 single base substitution A C intron_variant COCA-CN 5 54423032 54423032 single base substitution C G intron_variant COCA-CN 5 54433348 54433348 single base substitution C T 3_prime_UTR_variant COCA-CN 5 54433348 54433348 single base substitution C T downstream_gene_variant COCA-CN 5 54433348 54433348 single base substitution C T intron_variant COCA-CN 5 54433386 54433386 single base substitution T G 3_prime_UTR_variant COCA-CN 5 54433386 54433386 single base substitution T G downstream_gene_variant COCA-CN 5 54433386 54433386 single base substitution T G intron_variant COCA-CN 5 54433437 54433437 single base substitution C T exon_variant COCA-CN 5 54433437 54433437 single base substitution C T intron_variant COCA-CN 5 54433437 54433437 single base substitution C T missense_variant R182Q 545G>A COCA-CN 5 54433449 54433449 single base substitution C A exon_variant COCA-CN 5 54433449 54433449 single base substitution C A intron_variant COCA-CN 5 54433449 54433449 single base substitution C A missense_variant S178I 533G>T COCA-CN 5 54436129 54436129 single base substitution C A intron_variant COCA-CN 5 54436267 54436267 single base substitution C A intron_variant COCA-CN 5 54439329 54439329 single base substitution C T intron_variant COCA-CN 5 54439517 54439517 single base substitution T C intron_variant COCA-CN 5 54440738 54440738 single base substitution G C intron_variant COCA-CN 5 54441736 54441736 single base substitution C T intron_variant COCA-CN 5 54460058 54460058 single base substitution C T intron_variant COCA-CN 5 54468271 54468271 single base substitution G T intron_variant EOPC-DE 5 54425245 54425245 single base substitution C T intron_variant EOPC-DE 5 54425762 54425762 single base substitution T A intron_variant ESAD-UK 5 54405672 54405672 single base substitution C A downstream_gene_variant ESAD-UK 5 54405875 54405875 single base substitution C T downstream_gene_variant ESAD-UK 5 54405889 54405889 single base substitution G A downstream_gene_variant ESAD-UK 5 54406338 54406338 single base substitution A C downstream_gene_variant ESAD-UK 5 54407776 54407776 insertion of <=200bp - A downstream_gene_variant ESAD-UK 5 54408112 54408112 single base substitution A G downstream_gene_variant ESAD-UK 5 54411005 54411005 single base substitution G C downstream_gene_variant ESAD-UK 5 54411005 54411005 single base substitution G C intron_variant ESAD-UK 5 54411337 54411337 single base substitution A G downstream_gene_variant ESAD-UK 5 54411337 54411337 single base substitution A G intron_variant ESAD-UK 5 54411442 54411442 single base substitution A C downstream_gene_variant ESAD-UK 5 54411442 54411442 single base substitution A C intron_variant ESAD-UK 5 54413089 54413089 single base substitution C A downstream_gene_variant ESAD-UK 5 54413089 54413089 single base substitution C A intron_variant ESAD-UK 5 54414733 54414733 single base substitution C A downstream_gene_variant ESAD-UK 5 54414733 54414733 single base substitution C A intron_variant ESAD-UK 5 54416288 54416288 single base substitution C G 3_prime_UTR_variant ESAD-UK 5 54416288 54416288 single base substitution C G intron_variant ESAD-UK 5 54416288 54416288 single base substitution C G missense_variant G436R 1306G>C ESAD-UK 5 54416624 54416624 single base substitution T C intron_variant ESAD-UK 5 54417341 54417341 insertion of <=200bp - T intron_variant ESAD-UK 5 54418824 54418824 single base substitution T G intron_variant ESAD-UK 5 54419139 54419139 single base substitution A C intron_variant ESAD-UK 5 54419565 54419565 single base substitution A C intron_variant ESAD-UK 5 54420373 54420373 single base substitution A G intron_variant ESAD-UK 5 54420641 54420641 single base substitution G A 3_prime_UTR_variant ESAD-UK 5 54420641 54420641 single base substitution G A missense_variant T402M 1205C>T ESAD-UK 5 54423491 54423491 single base substitution A C intron_variant ESAD-UK 5 54423882 54423882 single base substitution T A intron_variant ESAD-UK 5 54423977 54423977 single base substitution A G intron_variant ESAD-UK 5 54425337 54425337 single base substitution A G intron_variant ESAD-UK 5 54425411 54425411 single base substitution C A intron_variant ESAD-UK 5 54426633 54426633 single base substitution G A downstream_gene_variant ESAD-UK 5 54426633 54426633 single base substitution G A intron_variant ESAD-UK 5 54430862 54430862 single base substitution A G downstream_gene_variant ESAD-UK 5 54430862 54430862 single base substitution A G intron_variant ESAD-UK 5 54431380 54431380 single base substitution T G downstream_gene_variant ESAD-UK 5 54431380 54431380 single base substitution T G intron_variant ESAD-UK 5 54431942 54431942 single base substitution T G downstream_gene_variant ESAD-UK 5 54431942 54431942 single base substitution T G intron_variant ESAD-UK 5 54432786 54432786 single base substitution C T 3_prime_UTR_variant ESAD-UK 5 54432786 54432786 single base substitution C T downstream_gene_variant ESAD-UK 5 54432786 54432786 single base substitution C T intron_variant ESAD-UK 5 54433743 54433743 single base substitution G C intron_variant ESAD-UK 5 54434782 54434782 deletion of <=200bp A - intron_variant ESAD-UK 5 54436696 54436696 single base substitution G C intron_variant ESAD-UK 5 54438200 54438200 single base substitution A T intron_variant ESAD-UK 5 54439004 54439004 single base substitution G A intron_variant ESAD-UK 5 54440035 54440035 single base substitution A G intron_variant ESAD-UK 5 54440440 54440440 single base substitution T G intron_variant ESAD-UK 5 54442197 54442197 single base substitution G A intron_variant ESAD-UK 5 54443907 54443907 single base substitution C A intron_variant ESAD-UK 5 54444475 54444475 single base substitution G A intron_variant ESAD-UK 5 54444728 54444728 single base substitution G A intron_variant ESAD-UK 5 54446601 54446601 single base substitution C T intron_variant ESAD-UK 5 54446762 54446762 single base substitution C T intron_variant ESAD-UK 5 54446878 54446878 single base substitution G A intron_variant ESAD-UK 5 54448171 54448171 single base substitution G A intron_variant ESAD-UK 5 54449331 54449331 single base substitution C T intron_variant ESAD-UK 5 54452571 54452571 single base substitution G A intron_variant ESAD-UK 5 54454772 54454772 insertion of <=200bp - T intron_variant ESAD-UK 5 54455820 54455820 single base substitution A T intron_variant ESAD-UK 5 54457239 54457239 single base substitution A G intron_variant ESAD-UK 5 54459944 54459944 single base substitution A C intron_variant ESAD-UK 5 54463703 54463703 single base substitution T A intron_variant ESAD-UK 5 54464584 54464584 single base substitution A C intron_variant ESAD-UK 5 54465502 54465502 deletion of <=200bp A - intron_variant ESAD-UK 5 54467366 54467366 single base substitution G T intron_variant ESAD-UK 5 54468057 54468057 single base substitution A C intron_variant ESAD-UK 5 54471037 54471037 single base substitution T G upstream_gene_variant ESAD-UK 5 54472387 54472387 single base substitution T G upstream_gene_variant ESAD-UK 5 54472723 54472723 single base substitution T C upstream_gene_variant ESCA-CN 5 54420700 54420700 single base substitution C T 3_prime_UTR_variant ESCA-CN 5 54420700 54420700 single base substitution C T stop_gained W382* 1146G>A ESCA-CN 5 54424227 54424227 deletion of <=200bp A - intron_variant ESCA-CN 5 54439411 54439411 deletion of <=200bp G - exon_variant ESCA-CN 5 54439411 54439411 deletion of <=200bp G - frameshift_variant A118 ESCA-CN 5 54439411 54439411 deletion of <=200bp G - frameshift_variant A139 GBM-US 5 54423154 54423154 single base substitution C T exon_variant GBM-US 5 54423154 54423154 single base substitution C T missense_variant R307Q 920G>A KIRC-US 5 54415634 54415634 single base substitution A C 3_prime_UTR_variant KIRC-US 5 54415634 54415634 single base substitution A C downstream_gene_variant KIRC-US 5 54415634 54415634 single base substitution A C missense_variant F443C 1328T>G KIRC-US 5 54415634 54415634 single base substitution A C missense_variant F485C 1454T>G KIRC-US 5 54415634 54415634 single base substitution A C splice_region_variant KIRC-US 5 54456928 54456928 single base substitution T G intron_variant KIRC-US 5 54459987 54459987 single base substitution A G intron_variant KIRP-US 5 54429246 54429246 single base substitution C A downstream_gene_variant KIRP-US 5 54429246 54429246 single base substitution C A exon_variant KIRP-US 5 54429246 54429246 single base substitution C A missense_variant D231Y 691G>T LGG-US 5 54424345 54424345 single base substitution G T exon_variant LGG-US 5 54424345 54424345 single base substitution G T missense_variant N266K 798C>A LGG-US 5 54429276 54429276 single base substitution C T downstream_gene_variant LGG-US 5 54429276 54429276 single base substitution C T exon_variant LGG-US 5 54429276 54429276 single base substitution C T missense_variant V221M 661G>A LGG-US 5 54436230 54436230 single base substitution G A exon_variant LGG-US 5 54436230 54436230 single base substitution G A synonymous_variant C143C 429C>T LGG-US 5 54436230 54436230 single base substitution G A synonymous_variant C164C 492C>T LICA-CN 5 54415672 54415672 single base substitution A T 3_prime_UTR_variant LICA-CN 5 54415672 54415672 single base substitution A T synonymous_variant T430T 1290T>A LICA-CN 5 54415672 54415672 single base substitution A T synonymous_variant T472T 1416T>A LICA-FR 5 54411668 54411668 single base substitution C A downstream_gene_variant LICA-FR 5 54411668 54411668 single base substitution C A intron_variant LICA-FR 5 54415213 54415213 single base substitution A T downstream_gene_variant LICA-FR 5 54415213 54415213 single base substitution A T intron_variant LICA-FR 5 54415701 54415701 single base substitution C A 3_prime_UTR_variant LICA-FR 5 54415701 54415701 single base substitution C A missense_variant G421C 1261G>T LICA-FR 5 54415701 54415701 single base substitution C A missense_variant G463C 1387G>T LICA-FR 5 54417981 54417981 single base substitution T A intron_variant LICA-FR 5 54468057 54468057 single base substitution A T intron_variant LIHC-US 5 54420777 54420777 single base substitution C A 3_prime_UTR_variant LIHC-US 5 54420777 54420777 single base substitution C A missense_variant A357S 1069G>T LIHC-US 5 54442574 54442574 single base substitution T G exon_variant LIHC-US 5 54442574 54442574 single base substitution T G missense_variant Q58H 174A>C LIHC-US 5 54442574 54442574 single base substitution T G missense_variant Q79H 237A>C LIHC-US 5 54459895 54459895 single base substitution A G intron_variant LIHC-US 5 54468477 54468477 single base substitution T C intron_variant LIHC-US 5 54468477 54468477 single base substitution T C missense_variant E22G 65A>G LIHC-US 5 54468477 54468477 single base substitution T C splice_region_variant LINC-JP 5 54405855 54405855 single base substitution T A downstream_gene_variant LINC-JP 5 54412294 54412294 single base substitution T C downstream_gene_variant LINC-JP 5 54412294 54412294 single base substitution T C intron_variant LINC-JP 5 54416441 54416441 single base substitution G C intron_variant LINC-JP 5 54421555 54421555 single base substitution T C intron_variant LINC-JP 5 54424385 54424385 single base substitution A G exon_variant LINC-JP 5 54424385 54424385 single base substitution A G missense_variant V253A 758T>C LINC-JP 5 54435369 54435369 single base substitution T C intron_variant LINC-JP 5 54436099 54436099 single base substitution A G intron_variant LINC-JP 5 54443339 54443339 single base substitution A C intron_variant LINC-JP 5 54459998 54459998 single base substitution A G intron_variant LINC-JP 5 54468344 54468344 single base substitution C G intron_variant LINC-JP 5 54471507 54471507 single base substitution T C upstream_gene_variant LINC-JP 5 54472045 54472045 single base substitution C A upstream_gene_variant LIRI-JP 5 54404385 54404385 single base substitution A T downstream_gene_variant LIRI-JP 5 54408361 54408361 single base substitution A G downstream_gene_variant LIRI-JP 5 54411911 54411911 single base substitution A T downstream_gene_variant LIRI-JP 5 54411911 54411911 single base substitution A T intron_variant LIRI-JP 5 54411954 54411954 single base substitution G T downstream_gene_variant LIRI-JP 5 54411954 54411954 single base substitution G T intron_variant LIRI-JP 5 54413772 54413772 single base substitution A C downstream_gene_variant LIRI-JP 5 54413772 54413772 single base substitution A C intron_variant LIRI-JP 5 54414453 54414453 single base substitution A T downstream_gene_variant LIRI-JP 5 54414453 54414453 single base substitution A T intron_variant LIRI-JP 5 54415584 54415584 single base substitution C A downstream_gene_variant LIRI-JP 5 54415584 54415584 single base substitution C A intron_variant LIRI-JP 5 54416399 54416399 single base substitution G A intron_variant LIRI-JP 5 54417762 54417762 single base substitution A G intron_variant LIRI-JP 5 54418486 54418486 single base substitution A T intron_variant LIRI-JP 5 54419171 54419171 single base substitution C T intron_variant LIRI-JP 5 54419788 54419788 single base substitution T C intron_variant LIRI-JP 5 54422862 54422862 single base substitution A G intron_variant LIRI-JP 5 54423416 54423416 single base substitution G T intron_variant LIRI-JP 5 54424211 54424211 single base substitution C A intron_variant LIRI-JP 5 54425269 54425269 single base substitution T C intron_variant LIRI-JP 5 54425327 54425327 single base substitution A T intron_variant LIRI-JP 5 54427198 54427198 single base substitution T C downstream_gene_variant LIRI-JP 5 54427198 54427198 single base substitution T C intron_variant LIRI-JP 5 54427254 54427254 single base substitution C A downstream_gene_variant LIRI-JP 5 54427254 54427254 single base substitution C A intron_variant LIRI-JP 5 54428503 54428503 single base substitution C T downstream_gene_variant LIRI-JP 5 54428503 54428503 single base substitution C T intron_variant LIRI-JP 5 54428991 54428991 single base substitution A T downstream_gene_variant LIRI-JP 5 54428991 54428991 single base substitution A T intron_variant LIRI-JP 5 54429465 54429465 single base substitution A G downstream_gene_variant LIRI-JP 5 54429465 54429465 single base substitution A G intron_variant LIRI-JP 5 54429868 54429868 single base substitution G A downstream_gene_variant LIRI-JP 5 54429868 54429868 single base substitution G A intron_variant LIRI-JP 5 54430369 54430369 single base substitution T C downstream_gene_variant LIRI-JP 5 54430369 54430369 single base substitution T C intron_variant LIRI-JP 5 54430797 54430797 single base substitution A G downstream_gene_variant LIRI-JP 5 54430797 54430797 single base substitution A G intron_variant LIRI-JP 5 54431854 54431854 single base substitution T C 3_prime_UTR_variant LIRI-JP 5 54431854 54431854 single base substitution T C downstream_gene_variant LIRI-JP 5 54431854 54431854 single base substitution T C intron_variant LIRI-JP 5 54432068 54432068 single base substitution C G downstream_gene_variant LIRI-JP 5 54432068 54432068 single base substitution C G intron_variant LIRI-JP 5 54434383 54434383 single base substitution T A intron_variant LIRI-JP 5 54434968 54434968 single base substitution A G intron_variant LIRI-JP 5 54435788 54435788 single base substitution A G intron_variant LIRI-JP 5 54437622 54437622 single base substitution G C intron_variant LIRI-JP 5 54441175 54441175 single base substitution G T intron_variant LIRI-JP 5 54441350 54441350 single base substitution T C intron_variant LIRI-JP 5 54442274 54442274 single base substitution G T intron_variant LIRI-JP 5 54442585 54442585 single base substitution T G exon_variant LIRI-JP 5 54442585 54442585 single base substitution T G synonymous_variant R55R 163A>C LIRI-JP 5 54442585 54442585 single base substitution T G synonymous_variant R76R 226A>C LIRI-JP 5 54444584 54444584 single base substitution A G intron_variant LIRI-JP 5 54447488 54447488 single base substitution T C intron_variant LIRI-JP 5 54447974 54447974 single base substitution G T intron_variant LIRI-JP 5 54449641 54449641 single base substitution T A intron_variant LIRI-JP 5 54449917 54449917 single base substitution A T intron_variant LIRI-JP 5 54450615 54450615 single base substitution T G intron_variant LIRI-JP 5 54451299 54451299 single base substitution G A intron_variant LIRI-JP 5 54452289 54452289 single base substitution T A intron_variant LIRI-JP 5 54453017 54453017 single base substitution A G intron_variant LIRI-JP 5 54453893 54453893 single base substitution C T intron_variant LIRI-JP 5 54455995 54455995 single base substitution G A intron_variant LIRI-JP 5 54457803 54457803 single base substitution G A intron_variant LIRI-JP 5 54458633 54458633 single base substitution T A intron_variant LIRI-JP 5 54458883 54458883 single base substitution G A intron_variant LIRI-JP 5 54462008 54462008 single base substitution T C intron_variant LIRI-JP 5 54462046 54462046 single base substitution C T intron_variant LIRI-JP 5 54463934 54463934 single base substitution A G intron_variant LIRI-JP 5 54465929 54465929 single base substitution G A intron_variant LIRI-JP 5 54467009 54467009 single base substitution G C intron_variant LIRI-JP 5 54467010 54467010 single base substitution T C intron_variant LIRI-JP 5 54468057 54468057 single base substitution A G intron_variant LIRI-JP 5 54468059 54468059 single base substitution A T intron_variant LIRI-JP 5 54471081 54471081 single base substitution G A upstream_gene_variant LIRI-JP 5 54471794 54471794 single base substitution G A upstream_gene_variant LIRI-JP 5 54473644 54473644 single base substitution A G upstream_gene_variant LIRI-JP 5 54473653 54473653 single base substitution A G upstream_gene_variant LIRI-JP 5 54473980 54473980 single base substitution C T upstream_gene_variant LUSC-KR 5 54407138 54407138 single base substitution C T downstream_gene_variant LUSC-KR 5 54409587 54409587 single base substitution G A 3_prime_UTR_variant LUSC-KR 5 54409587 54409587 single base substitution G A downstream_gene_variant LUSC-KR 5 54412018 54412018 single base substitution A T downstream_gene_variant LUSC-KR 5 54412018 54412018 single base substitution A T intron_variant LUSC-KR 5 54412358 54412358 single base substitution C T downstream_gene_variant LUSC-KR 5 54412358 54412358 single base substitution C T intron_variant LUSC-KR 5 54415521 54415521 single base substitution T C downstream_gene_variant LUSC-KR 5 54415521 54415521 single base substitution T C intron_variant LUSC-KR 5 54415623 54415623 single base substitution G A downstream_gene_variant LUSC-KR 5 54415623 54415623 single base substitution G A intron_variant LUSC-KR 5 54415623 54415623 single base substitution G A splice_region_variant LUSC-KR 5 54416572 54416572 single base substitution G C intron_variant LUSC-KR 5 54418749 54418749 single base substitution C A intron_variant LUSC-KR 5 54420799 54420799 single base substitution A C 3_prime_UTR_variant LUSC-KR 5 54420799 54420799 single base substitution A C synonymous_variant V349V 1047T>G LUSC-KR 5 54423075 54423075 single base substitution C T intron_variant LUSC-KR 5 54424060 54424060 single base substitution C A intron_variant LUSC-KR 5 54425253 54425253 single base substitution C A intron_variant LUSC-KR 5 54429230 54429230 single base substitution G T downstream_gene_variant LUSC-KR 5 54429230 54429230 single base substitution G T intron_variant LUSC-KR 5 54434782 54434782 single base substitution A T intron_variant LUSC-KR 5 54439466 54439466 single base substitution G A exon_variant LUSC-KR 5 54439466 54439466 single base substitution G A missense_variant R100C 298C>T LUSC-KR 5 54439466 54439466 single base substitution G A missense_variant R121C 361C>T LUSC-KR 5 54439513 54439513 single base substitution A C intron_variant LUSC-KR 5 54451141 54451141 single base substitution C A intron_variant LUSC-KR 5 54451633 54451633 single base substitution C A intron_variant LUSC-KR 5 54458221 54458221 single base substitution T G intron_variant LUSC-KR 5 54461510 54461510 single base substitution C G intron_variant LUSC-KR 5 54466294 54466294 single base substitution G T intron_variant LUSC-KR 5 54468921 54468921 single base substitution C T 5_prime_UTR_variant LUSC-KR 5 54468921 54468921 single base substitution C T upstream_gene_variant LUSC-KR 5 54472952 54472952 single base substitution G T upstream_gene_variant LUSC-US 5 54403983 54403983 single base substitution G T downstream_gene_variant LUSC-US 5 54404118 54404118 single base substitution G T downstream_gene_variant LUSC-US 5 54404139 54404139 single base substitution C T downstream_gene_variant LUSC-US 5 54415739 54415739 single base substitution G A 3_prime_UTR_variant LUSC-US 5 54415739 54415739 single base substitution G A missense_variant S408F 1223C>T LUSC-US 5 54415739 54415739 single base substitution G A missense_variant S450F 1349C>T LUSC-US 5 54420686 54420686 single base substitution C T 3_prime_UTR_variant LUSC-US 5 54420686 54420686 single base substitution C T missense_variant G387D 1160G>A LUSC-US 5 54442562 54442562 single base substitution C A exon_variant LUSC-US 5 54442562 54442562 single base substitution C A missense_variant R62S 186G>T LUSC-US 5 54442562 54442562 single base substitution C A missense_variant R83S 249G>T LUSC-US 5 54456978 54456978 single base substitution G C intron_variant MALY-DE 5 54404084 54404084 single base substitution C T downstream_gene_variant MALY-DE 5 54407587 54407587 single base substitution A C downstream_gene_variant MALY-DE 5 54418614 54418614 single base substitution C G intron_variant MALY-DE 5 54424227 54424227 deletion of <=200bp A - intron_variant MALY-DE 5 54429820 54429820 single base substitution G A downstream_gene_variant MALY-DE 5 54429820 54429820 single base substitution G A intron_variant MALY-DE 5 54430265 54430265 deletion of <=200bp A - downstream_gene_variant MALY-DE 5 54430265 54430265 deletion of <=200bp A - intron_variant MALY-DE 5 54445496 54445496 single base substitution C T intron_variant MALY-DE 5 54447360 54447360 single base substitution A T intron_variant MALY-DE 5 54447949 54447949 single base substitution A T intron_variant MALY-DE 5 54448854 54448854 single base substitution C G intron_variant MALY-DE 5 54453805 54453805 single base substitution G A intron_variant MALY-DE 5 54460168 54460168 single base substitution C T intron_variant MALY-DE 5 54465987 54465987 single base substitution G C intron_variant MALY-DE 5 54469016 54469016 single base substitution C T upstream_gene_variant MALY-DE 5 54471637 54471637 single base substitution G A upstream_gene_variant MELA-AU 5 54403826 54403826 single base substitution G A downstream_gene_variant MELA-AU 5 54403836 54403836 single base substitution C T downstream_gene_variant MELA-AU 5 54403837 54403837 single base substitution C T downstream_gene_variant MELA-AU 5 54403844 54403844 single base substitution C T downstream_gene_variant MELA-AU 5 54403876 54403876 single base substitution C T downstream_gene_variant MELA-AU 5 54403923 54403923 single base substitution C T downstream_gene_variant MELA-AU 5 54404084 54404084 single base substitution C T downstream_gene_variant MELA-AU 5 54404211 54404211 single base substitution G A downstream_gene_variant MELA-AU 5 54404239 54404239 single base substitution C T downstream_gene_variant MELA-AU 5 54404275 54404275 single base substitution G A downstream_gene_variant MELA-AU 5 54404565 54404565 single base substitution G A downstream_gene_variant MELA-AU 5 54404774 54404774 single base substitution C T downstream_gene_variant MELA-AU 5 54404854 54404854 single base substitution A T downstream_gene_variant MELA-AU 5 54404964 54404964 single base substitution C T downstream_gene_variant MELA-AU 5 54405114 54405114 single base substitution G A downstream_gene_variant MELA-AU 5 54405265 54405265 single base substitution G A downstream_gene_variant MELA-AU 5 54405578 54405578 single base substitution C T downstream_gene_variant MELA-AU 5 54405638 54405638 single base substitution C T downstream_gene_variant MELA-AU 5 54405673 54405673 single base substitution C T downstream_gene_variant MELA-AU 5 54405697 54405697 single base substitution C T downstream_gene_variant MELA-AU 5 54405842 54405842 single base substitution C T downstream_gene_variant MELA-AU 5 54405901 54405901 single base substitution C T downstream_gene_variant MELA-AU 5 54405924 54405924 single base substitution G A downstream_gene_variant MELA-AU 5 54406064 54406064 single base substitution C T downstream_gene_variant MELA-AU 5 54406215 54406215 single base substitution G A downstream_gene_variant MELA-AU 5 54406400 54406400 single base substitution C T downstream_gene_variant MELA-AU 5 54406655 54406655 single base substitution G A downstream_gene_variant MELA-AU 5 54406693 54406693 single base substitution G A downstream_gene_variant MELA-AU 5 54406700 54406700 single base substitution C T downstream_gene_variant MELA-AU 5 54406859 54406859 single base substitution C T downstream_gene_variant MELA-AU 5 54406977 54406977 single base substitution G A downstream_gene_variant MELA-AU 5 54407069 54407069 single base substitution C T downstream_gene_variant MELA-AU 5 54407218 54407218 single base substitution T A downstream_gene_variant MELA-AU 5 54407376 54407376 single base substitution C T downstream_gene_variant MELA-AU 5 54407540 54407540 single base substitution C T downstream_gene_variant MELA-AU 5 54407717 54407717 single base substitution G A downstream_gene_variant MELA-AU 5 54407764 54407764 single base substitution G A downstream_gene_variant MELA-AU 5 54407919 54407919 single base substitution C T downstream_gene_variant MELA-AU 5 54407987 54407987 single base substitution G A downstream_gene_variant MELA-AU 5 54408108 54408108 single base substitution G A downstream_gene_variant MELA-AU 5 54408128 54408128 single base substitution C T downstream_gene_variant MELA-AU 5 54408221 54408221 single base substitution C T downstream_gene_variant MELA-AU 5 54408652 54408652 single base substitution C T downstream_gene_variant MELA-AU 5 54408716 54408716 single base substitution G A downstream_gene_variant MELA-AU 5 54409037 54409037 single base substitution G C 3_prime_UTR_variant MELA-AU 5 54409037 54409037 single base substitution G C downstream_gene_variant MELA-AU 5 54409073 54409073 single base substitution G A 3_prime_UTR_variant MELA-AU 5 54409073 54409073 single base substitution G A downstream_gene_variant MELA-AU 5 54409504 54409504 single base substitution G A 3_prime_UTR_variant MELA-AU 5 54409504 54409504 single base substitution G A downstream_gene_variant MELA-AU 5 54409664 54409664 single base substitution G A 3_prime_UTR_variant MELA-AU 5 54409664 54409664 single base substitution G A downstream_gene_variant MELA-AU 5 54409677 54409677 single base substitution G A 3_prime_UTR_variant MELA-AU 5 54409677 54409677 single base substitution G A downstream_gene_variant MELA-AU 5 54409723 54409723 single base substitution G A 3_prime_UTR_variant MELA-AU 5 54409723 54409723 single base substitution G A downstream_gene_variant MELA-AU 5 54409728 54409728 single base substitution G A 3_prime_UTR_variant MELA-AU 5 54409728 54409728 single base substitution G A downstream_gene_variant MELA-AU 5 54409792 54409792 single base substitution G A 3_prime_UTR_variant MELA-AU 5 54409792 54409792 single base substitution G A downstream_gene_variant MELA-AU 5 54410149 54410149 single base substitution G A intron_variant MELA-AU 5 54410160 54410160 single base substitution G A intron_variant MELA-AU 5 54410260 54410260 single base substitution C T intron_variant MELA-AU 5 54410450 54410450 single base substitution G A intron_variant MELA-AU 5 54410474 54410474 single base substitution G A intron_variant MELA-AU 5 54410486 54410486 single base substitution C T intron_variant MELA-AU 5 54410574 54410574 single base substitution G T intron_variant MELA-AU 5 54410608 54410608 single base substitution C T intron_variant MELA-AU 5 54410629 54410629 single base substitution G A intron_variant MELA-AU 5 54410682 54410682 single base substitution C T downstream_gene_variant MELA-AU 5 54410682 54410682 single base substitution C T intron_variant MELA-AU 5 54410885 54410885 single base substitution C T downstream_gene_variant MELA-AU 5 54410885 54410885 single base substitution C T intron_variant MELA-AU 5 54410950 54410950 single base substitution T C downstream_gene_variant MELA-AU 5 54410950 54410950 single base substitution T C intron_variant MELA-AU 5 54410955 54410955 single base substitution G A downstream_gene_variant MELA-AU 5 54410955 54410955 single base substitution G A intron_variant MELA-AU 5 54411168 54411168 single base substitution C T downstream_gene_variant MELA-AU 5 54411168 54411168 single base substitution C T intron_variant MELA-AU 5 54411270 54411270 single base substitution G A downstream_gene_variant MELA-AU 5 54411270 54411270 single base substitution G A intron_variant MELA-AU 5 54411706 54411706 single base substitution G A downstream_gene_variant MELA-AU 5 54411706 54411706 single base substitution G A intron_variant MELA-AU 5 54411776 54411776 single base substitution G A downstream_gene_variant MELA-AU 5 54411776 54411776 single base substitution G A intron_variant MELA-AU 5 54411963 54411963 single base substitution C T downstream_gene_variant MELA-AU 5 54411963 54411963 single base substitution C T intron_variant MELA-AU 5 54412041 54412041 single base substitution G A downstream_gene_variant MELA-AU 5 54412041 54412041 single base substitution G A intron_variant MELA-AU 5 54412617 54412617 single base substitution G A downstream_gene_variant MELA-AU 5 54412617 54412617 single base substitution G A intron_variant MELA-AU 5 54412622 54412622 single base substitution C T downstream_gene_variant MELA-AU 5 54412622 54412622 single base substitution C T intron_variant MELA-AU 5 54412633 54412633 single base substitution C T downstream_gene_variant MELA-AU 5 54412633 54412633 single base substitution C T intron_variant MELA-AU 5 54412781 54412781 single base substitution G A downstream_gene_variant MELA-AU 5 54412781 54412781 single base substitution G A intron_variant MELA-AU 5 54413023 54413023 single base substitution A G downstream_gene_variant MELA-AU 5 54413023 54413023 single base substitution A G intron_variant MELA-AU 5 54413279 54413279 single base substitution T C downstream_gene_variant MELA-AU 5 54413279 54413279 single base substitution T C intron_variant MELA-AU 5 54413289 54413289 single base substitution C T downstream_gene_variant MELA-AU 5 54413289 54413289 single base substitution C T intron_variant MELA-AU 5 54413290 54413290 single base substitution C T downstream_gene_variant MELA-AU 5 54413290 54413290 single base substitution C T intron_variant MELA-AU 5 54413456 54413456 single base substitution G A downstream_gene_variant MELA-AU 5 54413456 54413456 single base substitution G A intron_variant MELA-AU 5 54413642 54413642 single base substitution C T downstream_gene_variant MELA-AU 5 54413642 54413642 single base substitution C T intron_variant MELA-AU 5 54413690 54413690 single base substitution C T downstream_gene_variant MELA-AU 5 54413690 54413690 single base substitution C T intron_variant MELA-AU 5 54413774 54413774 single base substitution C T downstream_gene_variant MELA-AU 5 54413774 54413774 single base substitution C T intron_variant MELA-AU 5 54414349 54414349 single base substitution C T downstream_gene_variant MELA-AU 5 54414349 54414349 single base substitution C T intron_variant MELA-AU 5 54414378 54414378 single base substitution C T downstream_gene_variant MELA-AU 5 54414378 54414378 single base substitution C T intron_variant MELA-AU 5 54414416 54414416 single base substitution G A downstream_gene_variant MELA-AU 5 54414416 54414416 single base substitution G A intron_variant MELA-AU 5 54414465 54414466 multiple base substitution (>=2bp and <=200bp) GA AT downstream_gene_variant MELA-AU 5 54414465 54414466 multiple base substitution (>=2bp and <=200bp) GA AT intron_variant MELA-AU 5 54414626 54414626 single base substitution C T downstream_gene_variant MELA-AU 5 54414626 54414626 single base substitution C T intron_variant MELA-AU 5 54414884 54414884 single base substitution C T downstream_gene_variant MELA-AU 5 54414884 54414884 single base substitution C T intron_variant MELA-AU 5 54414934 54414934 single base substitution G A downstream_gene_variant MELA-AU 5 54414934 54414934 single base substitution G A intron_variant MELA-AU 5 54415025 54415025 single base substitution C T downstream_gene_variant MELA-AU 5 54415025 54415025 single base substitution C T intron_variant MELA-AU 5 54415123 54415123 single base substitution G A downstream_gene_variant MELA-AU 5 54415123 54415123 single base substitution G A intron_variant MELA-AU 5 54415739 54415739 single base substitution G A 3_prime_UTR_variant MELA-AU 5 54415739 54415739 single base substitution G A missense_variant S408F 1223C>T MELA-AU 5 54415739 54415739 single base substitution G A missense_variant S450F 1349C>T MELA-AU 5 54415757 54415757 single base substitution G A intron_variant MELA-AU 5 54415985 54415985 single base substitution C T intron_variant MELA-AU 5 54416043 54416043 single base substitution G A intron_variant MELA-AU 5 54416122 54416122 single base substitution C T intron_variant MELA-AU 5 54416138 54416139 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 54416184 54416184 single base substitution C T intron_variant MELA-AU 5 54416225 54416225 single base substitution G A intron_variant MELA-AU 5 54416373 54416373 single base substitution C T 3_prime_UTR_variant MELA-AU 5 54416373 54416373 single base substitution C T intron_variant MELA-AU 5 54416373 54416373 single base substitution C T missense_variant M407I 1221G>A MELA-AU 5 54416421 54416421 single base substitution G A intron_variant MELA-AU 5 54416421 54416422 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 54416597 54416597 single base substitution C T intron_variant MELA-AU 5 54416675 54416675 insertion of <=200bp - AATA intron_variant MELA-AU 5 54416743 54416743 single base substitution A T intron_variant MELA-AU 5 54416758 54416758 single base substitution C T intron_variant MELA-AU 5 54416919 54416919 single base substitution C G intron_variant MELA-AU 5 54416979 54416979 single base substitution C T intron_variant MELA-AU 5 54417039 54417039 single base substitution C T intron_variant MELA-AU 5 54417313 54417313 single base substitution T C intron_variant MELA-AU 5 54417583 54417583 single base substitution G A intron_variant MELA-AU 5 54417668 54417668 single base substitution C T intron_variant MELA-AU 5 54417725 54417725 single base substitution C T intron_variant MELA-AU 5 54417834 54417834 single base substitution C T intron_variant MELA-AU 5 54417909 54417909 single base substitution C T intron_variant MELA-AU 5 54417937 54417937 single base substitution G A intron_variant MELA-AU 5 54418089 54418089 single base substitution G A intron_variant MELA-AU 5 54418147 54418147 single base substitution G T intron_variant MELA-AU 5 54418189 54418189 single base substitution C T intron_variant MELA-AU 5 54418361 54418361 single base substitution C T intron_variant MELA-AU 5 54418663 54418663 single base substitution C T intron_variant MELA-AU 5 54419103 54419103 single base substitution T C intron_variant MELA-AU 5 54419168 54419168 single base substitution C T intron_variant MELA-AU 5 54419205 54419205 single base substitution G A intron_variant MELA-AU 5 54419475 54419475 single base substitution G C intron_variant MELA-AU 5 54419480 54419480 single base substitution C T intron_variant MELA-AU 5 54419917 54419917 single base substitution G A intron_variant MELA-AU 5 54420134 54420134 single base substitution C T intron_variant MELA-AU 5 54420222 54420222 single base substitution G A intron_variant MELA-AU 5 54420242 54420242 single base substitution T A intron_variant MELA-AU 5 54420408 54420408 single base substitution A G intron_variant MELA-AU 5 54420460 54420460 single base substitution G A intron_variant MELA-AU 5 54420554 54420554 single base substitution G A intron_variant MELA-AU 5 54420602 54420602 single base substitution G A intron_variant MELA-AU 5 54420716 54420716 single base substitution C T 3_prime_UTR_variant MELA-AU 5 54420716 54420716 single base substitution C T missense_variant G377E 1130G>A MELA-AU 5 54420821 54420821 single base substitution A G exon_variant MELA-AU 5 54420821 54420821 single base substitution A G missense_variant F371L 1111T>C MELA-AU 5 54420821 54420821 single base substitution A G missense_variant V342A 1025T>C MELA-AU 5 54421017 54421017 single base substitution C T intron_variant MELA-AU 5 54421133 54421133 single base substitution G A intron_variant MELA-AU 5 54421136 54421136 single base substitution A C intron_variant MELA-AU 5 54421158 54421158 single base substitution G A intron_variant MELA-AU 5 54421454 54421454 single base substitution G A intron_variant MELA-AU 5 54421672 54421672 single base substitution C T intron_variant MELA-AU 5 54421684 54421684 single base substitution C T intron_variant MELA-AU 5 54422077 54422077 single base substitution C T intron_variant MELA-AU 5 54422209 54422209 single base substitution C T exon_variant MELA-AU 5 54422209 54422209 single base substitution C T intron_variant MELA-AU 5 54422209 54422209 single base substitution C T missense_variant D350N 1048G>A MELA-AU 5 54422222 54422222 single base substitution G A exon_variant MELA-AU 5 54422222 54422222 single base substitution G A intron_variant MELA-AU 5 54422222 54422222 single base substitution G A synonymous_variant L345L 1035C>T MELA-AU 5 54422230 54422230 single base substitution G A exon_variant MELA-AU 5 54422230 54422230 single base substitution G A intron_variant MELA-AU 5 54422230 54422230 single base substitution G A missense_variant L343F 1027C>T MELA-AU 5 54422251 54422251 single base substitution C T exon_variant MELA-AU 5 54422251 54422251 single base substitution C T intron_variant MELA-AU 5 54422251 54422251 single base substitution C T missense_variant V336M 1006G>A MELA-AU 5 54422519 54422519 single base substitution G A intron_variant MELA-AU 5 54423182 54423182 single base substitution G A splice_region_variant MELA-AU 5 54423227 54423228 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 54423306 54423306 single base substitution C T intron_variant MELA-AU 5 54423676 54423676 single base substitution C T intron_variant MELA-AU 5 54423835 54423835 single base substitution G A intron_variant MELA-AU 5 54423900 54423900 single base substitution C T intron_variant MELA-AU 5 54423987 54423988 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 54424061 54424061 single base substitution C T intron_variant MELA-AU 5 54424130 54424130 single base substitution C T intron_variant MELA-AU 5 54424363 54424363 single base substitution G A exon_variant MELA-AU 5 54424363 54424363 single base substitution G A synonymous_variant N260N 780C>T MELA-AU 5 54424787 54424787 single base substitution G A intron_variant MELA-AU 5 54425013 54425013 single base substitution C T intron_variant MELA-AU 5 54425076 54425076 single base substitution C T intron_variant MELA-AU 5 54425225 54425225 single base substitution C T intron_variant MELA-AU 5 54425389 54425389 single base substitution G A intron_variant MELA-AU 5 54425513 54425513 single base substitution G A intron_variant MELA-AU 5 54425582 54425582 single base substitution C T intron_variant MELA-AU 5 54425667 54425667 single base substitution C T intron_variant MELA-AU 5 54425753 54425753 single base substitution C T intron_variant MELA-AU 5 54425917 54425917 single base substitution G A intron_variant MELA-AU 5 54426288 54426288 single base substitution C T intron_variant MELA-AU 5 54426368 54426368 single base substitution C T intron_variant MELA-AU 5 54426530 54426530 single base substitution G A intron_variant MELA-AU 5 54426633 54426633 single base substitution G A downstream_gene_variant MELA-AU 5 54426633 54426633 single base substitution G A intron_variant MELA-AU 5 54426636 54426636 single base substitution T A downstream_gene_variant MELA-AU 5 54426636 54426636 single base substitution T A intron_variant MELA-AU 5 54426696 54426696 single base substitution C T downstream_gene_variant MELA-AU 5 54426696 54426696 single base substitution C T intron_variant MELA-AU 5 54426707 54426707 single base substitution G A downstream_gene_variant MELA-AU 5 54426707 54426707 single base substitution G A intron_variant MELA-AU 5 54426724 54426724 single base substitution G A downstream_gene_variant MELA-AU 5 54426724 54426724 single base substitution G A intron_variant MELA-AU 5 54426728 54426728 single base substitution C T downstream_gene_variant MELA-AU 5 54426728 54426728 single base substitution C T intron_variant MELA-AU 5 54426918 54426918 single base substitution A G downstream_gene_variant MELA-AU 5 54426918 54426918 single base substitution A G intron_variant MELA-AU 5 54427274 54427274 single base substitution G A downstream_gene_variant MELA-AU 5 54427274 54427274 single base substitution G A intron_variant MELA-AU 5 54427302 54427302 single base substitution G A downstream_gene_variant MELA-AU 5 54427302 54427302 single base substitution G A intron_variant MELA-AU 5 54427311 54427311 single base substitution G A downstream_gene_variant MELA-AU 5 54427311 54427311 single base substitution G A intron_variant MELA-AU 5 54427405 54427405 single base substitution C T downstream_gene_variant MELA-AU 5 54427405 54427405 single base substitution C T intron_variant MELA-AU 5 54427411 54427411 single base substitution G A downstream_gene_variant MELA-AU 5 54427411 54427411 single base substitution G A intron_variant MELA-AU 5 54427724 54427724 single base substitution C T downstream_gene_variant MELA-AU 5 54427724 54427724 single base substitution C T intron_variant MELA-AU 5 54427918 54427918 single base substitution C T downstream_gene_variant MELA-AU 5 54427918 54427918 single base substitution C T intron_variant MELA-AU 5 54428040 54428040 single base substitution G A downstream_gene_variant MELA-AU 5 54428040 54428040 single base substitution G A intron_variant MELA-AU 5 54428072 54428072 single base substitution G A downstream_gene_variant MELA-AU 5 54428072 54428072 single base substitution G A intron_variant MELA-AU 5 54428148 54428148 single base substitution C T downstream_gene_variant MELA-AU 5 54428148 54428148 single base substitution C T intron_variant MELA-AU 5 54428177 54428177 single base substitution G A downstream_gene_variant MELA-AU 5 54428177 54428177 single base substitution G A intron_variant MELA-AU 5 54428431 54428431 single base substitution G A downstream_gene_variant MELA-AU 5 54428431 54428431 single base substitution G A intron_variant MELA-AU 5 54428433 54428433 single base substitution A G downstream_gene_variant MELA-AU 5 54428433 54428433 single base substitution A G intron_variant MELA-AU 5 54428473 54428473 single base substitution G A downstream_gene_variant MELA-AU 5 54428473 54428473 single base substitution G A intron_variant MELA-AU 5 54428496 54428496 single base substitution G A downstream_gene_variant MELA-AU 5 54428496 54428496 single base substitution G A intron_variant MELA-AU 5 54428503 54428503 single base substitution C T downstream_gene_variant MELA-AU 5 54428503 54428503 single base substitution C T intron_variant MELA-AU 5 54428809 54428809 single base substitution C T downstream_gene_variant MELA-AU 5 54428809 54428809 single base substitution C T intron_variant MELA-AU 5 54428818 54428818 single base substitution C T downstream_gene_variant MELA-AU 5 54428818 54428818 single base substitution C T intron_variant MELA-AU 5 54428838 54428838 single base substitution C T downstream_gene_variant MELA-AU 5 54428838 54428838 single base substitution C T intron_variant MELA-AU 5 54429058 54429058 single base substitution C T downstream_gene_variant MELA-AU 5 54429058 54429058 single base substitution C T intron_variant MELA-AU 5 54429208 54429208 single base substitution A G downstream_gene_variant MELA-AU 5 54429208 54429208 single base substitution A G intron_variant MELA-AU 5 54429214 54429214 single base substitution A T downstream_gene_variant MELA-AU 5 54429214 54429214 single base substitution A T intron_variant MELA-AU 5 54429240 54429240 single base substitution A G downstream_gene_variant MELA-AU 5 54429240 54429240 single base substitution A G missense_variant Y233H 697T>C MELA-AU 5 54429240 54429240 single base substitution A G splice_region_variant MELA-AU 5 54429511 54429511 single base substitution G A downstream_gene_variant MELA-AU 5 54429511 54429511 single base substitution G A intron_variant MELA-AU 5 54429783 54429783 single base substitution G C downstream_gene_variant MELA-AU 5 54429783 54429783 single base substitution G C intron_variant MELA-AU 5 54429894 54429894 single base substitution G A downstream_gene_variant MELA-AU 5 54429894 54429894 single base substitution G A intron_variant MELA-AU 5 54429897 54429897 single base substitution T G downstream_gene_variant MELA-AU 5 54429897 54429897 single base substitution T G intron_variant MELA-AU 5 54430005 54430005 single base substitution T A downstream_gene_variant MELA-AU 5 54430005 54430005 single base substitution T A intron_variant MELA-AU 5 54430185 54430185 single base substitution C T downstream_gene_variant MELA-AU 5 54430185 54430185 single base substitution C T intron_variant MELA-AU 5 54430381 54430381 single base substitution G A downstream_gene_variant MELA-AU 5 54430381 54430381 single base substitution G A intron_variant MELA-AU 5 54431059 54431059 single base substitution G C downstream_gene_variant MELA-AU 5 54431059 54431059 single base substitution G C intron_variant MELA-AU 5 54431061 54431061 single base substitution C A downstream_gene_variant MELA-AU 5 54431061 54431061 single base substitution C A intron_variant MELA-AU 5 54431302 54431302 single base substitution G A downstream_gene_variant MELA-AU 5 54431302 54431302 single base substitution G A intron_variant MELA-AU 5 54431357 54431357 single base substitution G A downstream_gene_variant MELA-AU 5 54431357 54431357 single base substitution G A intron_variant MELA-AU 5 54431385 54431385 single base substitution C T downstream_gene_variant MELA-AU 5 54431385 54431385 single base substitution C T intron_variant MELA-AU 5 54431521 54431521 single base substitution G A downstream_gene_variant MELA-AU 5 54431521 54431521 single base substitution G A intron_variant MELA-AU 5 54431802 54431802 single base substitution C T 3_prime_UTR_variant MELA-AU 5 54431802 54431802 single base substitution C T downstream_gene_variant MELA-AU 5 54431802 54431802 single base substitution C T intron_variant MELA-AU 5 54431849 54431849 single base substitution G A 3_prime_UTR_variant MELA-AU 5 54431849 54431849 single base substitution G A downstream_gene_variant MELA-AU 5 54431849 54431849 single base substitution G A intron_variant MELA-AU 5 54431886 54431886 single base substitution C T downstream_gene_variant MELA-AU 5 54431886 54431886 single base substitution C T intron_variant MELA-AU 5 54431905 54431905 single base substitution G A downstream_gene_variant MELA-AU 5 54431905 54431905 single base substitution G A intron_variant MELA-AU 5 54431906 54431906 single base substitution G A downstream_gene_variant MELA-AU 5 54431906 54431906 single base substitution G A intron_variant MELA-AU 5 54432123 54432123 single base substitution C T downstream_gene_variant MELA-AU 5 54432123 54432123 single base substitution C T intron_variant MELA-AU 5 54432313 54432313 single base substitution G A 3_prime_UTR_variant MELA-AU 5 54432313 54432313 single base substitution G A downstream_gene_variant MELA-AU 5 54432313 54432313 single base substitution G A intron_variant MELA-AU 5 54433057 54433057 single base substitution G A 3_prime_UTR_variant MELA-AU 5 54433057 54433057 single base substitution G A downstream_gene_variant MELA-AU 5 54433057 54433057 single base substitution G A intron_variant MELA-AU 5 54433342 54433342 single base substitution T C 3_prime_UTR_variant MELA-AU 5 54433342 54433342 single base substitution T C downstream_gene_variant MELA-AU 5 54433342 54433342 single base substitution T C intron_variant MELA-AU 5 54433470 54433470 single base substitution G A intron_variant MELA-AU 5 54433470 54433470 single base substitution G A splice_region_variant MELA-AU 5 54433509 54433509 single base substitution G A intron_variant MELA-AU 5 54433538 54433538 single base substitution C T intron_variant MELA-AU 5 54433607 54433607 single base substitution G A intron_variant MELA-AU 5 54433787 54433787 single base substitution G A intron_variant MELA-AU 5 54434111 54434111 single base substitution C T intron_variant MELA-AU 5 54434388 54434388 single base substitution G A intron_variant MELA-AU 5 54434455 54434455 single base substitution G A intron_variant MELA-AU 5 54434664 54434664 single base substitution G A intron_variant MELA-AU 5 54434943 54434943 single base substitution G A intron_variant MELA-AU 5 54435138 54435138 single base substitution C T intron_variant MELA-AU 5 54435298 54435298 single base substitution G A intron_variant MELA-AU 5 54435442 54435442 single base substitution T A intron_variant MELA-AU 5 54435547 54435547 single base substitution G A intron_variant MELA-AU 5 54435892 54435892 single base substitution C T intron_variant MELA-AU 5 54436005 54436005 single base substitution G A intron_variant MELA-AU 5 54436140 54436140 single base substitution A T splice_donor_variant MELA-AU 5 54436339 54436339 single base substitution T C intron_variant MELA-AU 5 54436379 54436379 single base substitution C T intron_variant MELA-AU 5 54436391 54436391 single base substitution T A intron_variant MELA-AU 5 54436445 54436445 single base substitution C A intron_variant MELA-AU 5 54436467 54436467 single base substitution C T intron_variant MELA-AU 5 54436704 54436704 single base substitution C T intron_variant MELA-AU 5 54436743 54436743 single base substitution G A intron_variant MELA-AU 5 54437345 54437345 single base substitution G A intron_variant MELA-AU 5 54437359 54437359 single base substitution T C intron_variant MELA-AU 5 54437484 54437484 single base substitution C T intron_variant MELA-AU 5 54437612 54437612 single base substitution C T intron_variant MELA-AU 5 54437847 54437847 single base substitution A G intron_variant MELA-AU 5 54438045 54438045 single base substitution T C intron_variant MELA-AU 5 54438050 54438050 single base substitution G A intron_variant MELA-AU 5 54438374 54438374 single base substitution G A intron_variant MELA-AU 5 54438455 54438455 single base substitution C T intron_variant MELA-AU 5 54438513 54438513 single base substitution C T intron_variant MELA-AU 5 54438519 54438519 single base substitution C T intron_variant MELA-AU 5 54439057 54439057 single base substitution C T intron_variant MELA-AU 5 54439128 54439128 single base substitution C T intron_variant MELA-AU 5 54439158 54439158 single base substitution G A intron_variant MELA-AU 5 54439435 54439435 single base substitution C T exon_variant MELA-AU 5 54439435 54439435 single base substitution C T missense_variant G110E 329G>A MELA-AU 5 54439435 54439435 single base substitution C T missense_variant G131E 392G>A MELA-AU 5 54439645 54439645 single base substitution C T intron_variant MELA-AU 5 54439681 54439681 single base substitution C T intron_variant MELA-AU 5 54440228 54440228 single base substitution C T intron_variant MELA-AU 5 54440309 54440309 single base substitution A G intron_variant MELA-AU 5 54440738 54440738 single base substitution G A intron_variant MELA-AU 5 54441277 54441277 single base substitution C T intron_variant MELA-AU 5 54441360 54441360 single base substitution C T intron_variant MELA-AU 5 54441367 54441367 single base substitution G A intron_variant MELA-AU 5 54441415 54441415 single base substitution T C intron_variant MELA-AU 5 54441453 54441453 single base substitution G A intron_variant MELA-AU 5 54441505 54441505 single base substitution C T intron_variant MELA-AU 5 54441527 54441527 single base substitution C T intron_variant MELA-AU 5 54441653 54441653 single base substitution C T intron_variant MELA-AU 5 54441899 54441899 single base substitution C T intron_variant MELA-AU 5 54441938 54441938 single base substitution G A intron_variant MELA-AU 5 54442583 54442583 single base substitution C T exon_variant MELA-AU 5 54442583 54442583 single base substitution C T synonymous_variant R55R 165G>A MELA-AU 5 54442583 54442583 single base substitution C T synonymous_variant R76R 228G>A MELA-AU 5 54442649 54442649 single base substitution A G exon_variant MELA-AU 5 54442649 54442649 single base substitution A G synonymous_variant F33F 99T>C MELA-AU 5 54442649 54442649 single base substitution A G synonymous_variant F54F 162T>C MELA-AU 5 54443084 54443084 single base substitution T C intron_variant MELA-AU 5 54443438 54443438 single base substitution A T intron_variant MELA-AU 5 54444339 54444339 single base substitution C T intron_variant MELA-AU 5 54444605 54444605 single base substitution T A intron_variant MELA-AU 5 54444637 54444637 single base substitution A C intron_variant MELA-AU 5 54444930 54444930 single base substitution G A intron_variant MELA-AU 5 54444968 54444968 single base substitution G A intron_variant MELA-AU 5 54445354 54445354 single base substitution C T intron_variant MELA-AU 5 54445825 54445825 single base substitution G A intron_variant MELA-AU 5 54445883 54445883 single base substitution C T intron_variant MELA-AU 5 54445976 54445976 single base substitution A T intron_variant MELA-AU 5 54446006 54446006 single base substitution G A intron_variant MELA-AU 5 54446253 54446253 single base substitution C A intron_variant MELA-AU 5 54446677 54446677 single base substitution G A intron_variant MELA-AU 5 54447107 54447107 single base substitution G A intron_variant MELA-AU 5 54447233 54447234 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 54447237 54447237 single base substitution G A intron_variant MELA-AU 5 54447368 54447368 single base substitution G A intron_variant MELA-AU 5 54447381 54447381 single base substitution G A intron_variant MELA-AU 5 54447526 54447526 single base substitution C T intron_variant MELA-AU 5 54447634 54447634 single base substitution C T intron_variant MELA-AU 5 54447668 54447668 single base substitution G A intron_variant MELA-AU 5 54447764 54447764 single base substitution C T intron_variant MELA-AU 5 54447791 54447791 single base substitution G A intron_variant MELA-AU 5 54447920 54447920 single base substitution G A intron_variant MELA-AU 5 54448365 54448365 single base substitution G A intron_variant MELA-AU 5 54449429 54449429 single base substitution C T intron_variant MELA-AU 5 54449715 54449715 single base substitution C T intron_variant MELA-AU 5 54449783 54449783 single base substitution G A intron_variant MELA-AU 5 54450028 54450028 single base substitution G C intron_variant MELA-AU 5 54450464 54450464 single base substitution C G intron_variant MELA-AU 5 54450809 54450809 single base substitution C T intron_variant MELA-AU 5 54450836 54450836 single base substitution C G intron_variant MELA-AU 5 54450909 54450909 single base substitution G A intron_variant MELA-AU 5 54450943 54450943 single base substitution G A intron_variant MELA-AU 5 54451069 54451069 single base substitution G A intron_variant MELA-AU 5 54451097 54451097 single base substitution G A intron_variant MELA-AU 5 54451235 54451235 single base substitution A G intron_variant MELA-AU 5 54451248 54451248 single base substitution G A intron_variant MELA-AU 5 54451327 54451327 single base substitution C T intron_variant MELA-AU 5 54451790 54451790 single base substitution C T intron_variant MELA-AU 5 54451859 54451859 single base substitution G A intron_variant MELA-AU 5 54452283 54452283 single base substitution C T intron_variant MELA-AU 5 54452486 54452486 single base substitution G A intron_variant MELA-AU 5 54452974 54452974 single base substitution G A intron_variant MELA-AU 5 54453291 54453291 single base substitution C T intron_variant MELA-AU 5 54453411 54453411 single base substitution G A intron_variant MELA-AU 5 54454212 54454212 single base substitution C T intron_variant MELA-AU 5 54454306 54454306 single base substitution C T intron_variant MELA-AU 5 54454315 54454315 single base substitution C T intron_variant MELA-AU 5 54454691 54454691 single base substitution G A intron_variant MELA-AU 5 54454709 54454709 single base substitution G A intron_variant MELA-AU 5 54454770 54454770 single base substitution G A intron_variant MELA-AU 5 54454846 54454846 single base substitution C T intron_variant MELA-AU 5 54454872 54454872 single base substitution A G intron_variant MELA-AU 5 54455185 54455185 single base substitution G A intron_variant MELA-AU 5 54455231 54455231 single base substitution A G intron_variant MELA-AU 5 54455326 54455326 single base substitution G A intron_variant MELA-AU 5 54455328 54455328 single base substitution G C intron_variant MELA-AU 5 54455337 54455337 single base substitution T C intron_variant MELA-AU 5 54455929 54455929 single base substitution C T intron_variant MELA-AU 5 54455932 54455932 single base substitution C T intron_variant MELA-AU 5 54455985 54455986 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 54457470 54457470 single base substitution A G intron_variant MELA-AU 5 54457723 54457723 single base substitution C T intron_variant MELA-AU 5 54457789 54457789 single base substitution C T intron_variant MELA-AU 5 54458784 54458784 single base substitution G C intron_variant MELA-AU 5 54460921 54460921 single base substitution C T intron_variant MELA-AU 5 54461196 54461196 single base substitution C T intron_variant MELA-AU 5 54462326 54462326 single base substitution C T intron_variant MELA-AU 5 54462482 54462482 single base substitution C T intron_variant MELA-AU 5 54462604 54462604 single base substitution C T intron_variant MELA-AU 5 54464238 54464238 single base substitution C T intron_variant MELA-AU 5 54464330 54464330 single base substitution T A intron_variant MELA-AU 5 54464336 54464336 single base substitution C T intron_variant MELA-AU 5 54464460 54464460 single base substitution C T intron_variant MELA-AU 5 54465737 54465737 single base substitution C T intron_variant MELA-AU 5 54465935 54465935 single base substitution C T intron_variant MELA-AU 5 54465981 54465981 single base substitution C T intron_variant MELA-AU 5 54466174 54466174 single base substitution T G intron_variant MELA-AU 5 54466393 54466393 single base substitution C T intron_variant MELA-AU 5 54467534 54467534 single base substitution A G intron_variant MELA-AU 5 54467630 54467630 single base substitution C T intron_variant MELA-AU 5 54467890 54467890 single base substitution A G intron_variant MELA-AU 5 54468084 54468085 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 54468413 54468413 single base substitution C T intron_variant MELA-AU 5 54468413 54468413 single base substitution C T splice_region_variant MELA-AU 5 54469015 54469016 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 5 54469458 54469458 single base substitution C T upstream_gene_variant MELA-AU 5 54469473 54469473 single base substitution G A upstream_gene_variant MELA-AU 5 54469717 54469717 single base substitution C T upstream_gene_variant MELA-AU 5 54469954 54469954 single base substitution C T upstream_gene_variant MELA-AU 5 54470390 54470390 single base substitution T G upstream_gene_variant MELA-AU 5 54471428 54471428 single base substitution G A upstream_gene_variant MELA-AU 5 54471633 54471633 single base substitution A G upstream_gene_variant MELA-AU 5 54473110 54473110 single base substitution C T upstream_gene_variant MELA-AU 5 54473349 54473349 single base substitution G A upstream_gene_variant MELA-AU 5 54473469 54473469 single base substitution C T upstream_gene_variant MELA-AU 5 54473513 54473513 single base substitution C T upstream_gene_variant MELA-AU 5 54473842 54473842 single base substitution T C upstream_gene_variant MELA-AU 5 54473958 54473958 single base substitution G A upstream_gene_variant ORCA-IN 5 54432405 54432405 insertion of <=200bp - T 3_prime_UTR_variant ORCA-IN 5 54432405 54432405 insertion of <=200bp - T downstream_gene_variant ORCA-IN 5 54432405 54432405 insertion of <=200bp - T intron_variant ORCA-IN 5 54469540 54469540 single base substitution G C upstream_gene_variant OV-AU 5 54403967 54403967 single base substitution A C downstream_gene_variant OV-AU 5 54405241 54405241 single base substitution C T downstream_gene_variant OV-AU 5 54412345 54412345 single base substitution C G downstream_gene_variant OV-AU 5 54412345 54412345 single base substitution C G intron_variant OV-AU 5 54412405 54412405 single base substitution T C downstream_gene_variant OV-AU 5 54412405 54412405 single base substitution T C intron_variant OV-AU 5 54413602 54413602 single base substitution G T downstream_gene_variant OV-AU 5 54413602 54413602 single base substitution G T intron_variant OV-AU 5 54414052 54414052 single base substitution A T downstream_gene_variant OV-AU 5 54414052 54414052 single base substitution A T intron_variant OV-AU 5 54420294 54420294 single base substitution A G intron_variant OV-AU 5 54422914 54422914 single base substitution A G intron_variant OV-AU 5 54424163 54424163 single base substitution A G intron_variant OV-AU 5 54425740 54425740 single base substitution C T intron_variant OV-AU 5 54428065 54428065 single base substitution C T downstream_gene_variant OV-AU 5 54428065 54428065 single base substitution C T intron_variant OV-AU 5 54430025 54430025 single base substitution C T downstream_gene_variant OV-AU 5 54430025 54430025 single base substitution C T intron_variant OV-AU 5 54433383 54433383 single base substitution G A 3_prime_UTR_variant OV-AU 5 54433383 54433383 single base substitution G A downstream_gene_variant OV-AU 5 54433383 54433383 single base substitution G A intron_variant OV-AU 5 54435487 54435487 single base substitution A C intron_variant OV-AU 5 54441226 54441226 single base substitution T G intron_variant OV-AU 5 54447133 54447133 single base substitution G T intron_variant OV-AU 5 54447231 54447231 single base substitution A G intron_variant OV-AU 5 54447590 54447590 single base substitution T A intron_variant OV-AU 5 54462015 54462015 single base substitution G C intron_variant OV-US 5 54404085 54404085 single base substitution G A downstream_gene_variant PACA-AU 5 54406623 54406623 single base substitution T C downstream_gene_variant PACA-AU 5 54408789 54408789 single base substitution A T downstream_gene_variant PACA-AU 5 54413084 54413084 deletion of <=200bp C - downstream_gene_variant PACA-AU 5 54413084 54413084 deletion of <=200bp C - intron_variant PACA-AU 5 54413615 54413615 single base substitution C A downstream_gene_variant PACA-AU 5 54413615 54413615 single base substitution C A intron_variant PACA-AU 5 54414330 54414330 single base substitution A C downstream_gene_variant PACA-AU 5 54414330 54414330 single base substitution A C intron_variant PACA-AU 5 54415612 54415612 single base substitution C T downstream_gene_variant PACA-AU 5 54415612 54415612 single base substitution C T intron_variant PACA-AU 5 54415869 54415869 single base substitution G A intron_variant PACA-AU 5 54416701 54416701 single base substitution C A intron_variant PACA-AU 5 54418495 54418495 single base substitution C T intron_variant PACA-AU 5 54418645 54418645 single base substitution G A intron_variant PACA-AU 5 54418875 54418875 single base substitution A G intron_variant PACA-AU 5 54422088 54422088 single base substitution G C intron_variant PACA-AU 5 54422219 54422219 single base substitution C T exon_variant PACA-AU 5 54422219 54422219 single base substitution C T intron_variant PACA-AU 5 54422219 54422219 single base substitution C T synonymous_variant P346P 1038G>A PACA-AU 5 54427164 54427164 single base substitution A C downstream_gene_variant PACA-AU 5 54427164 54427164 single base substitution A C intron_variant PACA-AU 5 54442573 54442573 single base substitution T G exon_variant PACA-AU 5 54442573 54442573 single base substitution T G missense_variant S59R 175A>C PACA-AU 5 54442573 54442573 single base substitution T G missense_variant S80R 238A>C PACA-AU 5 54443269 54443269 single base substitution T C intron_variant PACA-AU 5 54444504 54444504 single base substitution C T intron_variant PACA-AU 5 54447465 54447465 single base substitution G A intron_variant PACA-AU 5 54447911 54447911 single base substitution G A intron_variant PACA-AU 5 54450754 54450754 single base substitution T C intron_variant PACA-AU 5 54451324 54451324 single base substitution G A intron_variant PACA-AU 5 54452512 54452512 single base substitution A G intron_variant PACA-AU 5 54460123 54460123 single base substitution G T intron_variant PACA-AU 5 54461394 54461394 single base substitution A T intron_variant PACA-AU 5 54466693 54466693 single base substitution G T intron_variant PACA-AU 5 54466781 54466781 single base substitution A G intron_variant PACA-CA 5 54404028 54404028 single base substitution G T downstream_gene_variant PACA-CA 5 54405191 54405191 single base substitution C T downstream_gene_variant PACA-CA 5 54405955 54405955 single base substitution T G downstream_gene_variant PACA-CA 5 54407788 54407788 single base substitution G A downstream_gene_variant PACA-CA 5 54408621 54408621 single base substitution A G downstream_gene_variant PACA-CA 5 54409721 54409721 single base substitution C A 3_prime_UTR_variant PACA-CA 5 54409721 54409721 single base substitution C A downstream_gene_variant PACA-CA 5 54412088 54412088 single base substitution G A downstream_gene_variant PACA-CA 5 54412088 54412088 single base substitution G A intron_variant PACA-CA 5 54413804 54413804 single base substitution A G downstream_gene_variant PACA-CA 5 54413804 54413804 single base substitution A G intron_variant PACA-CA 5 54417340 54417340 insertion of <=200bp - T intron_variant PACA-CA 5 54418077 54418077 single base substitution T C intron_variant PACA-CA 5 54418403 54418403 single base substitution G A intron_variant PACA-CA 5 54421386 54421386 single base substitution C A intron_variant PACA-CA 5 54422172 54422172 single base substitution C A intron_variant PACA-CA 5 54425553 54425553 single base substitution C A intron_variant PACA-CA 5 54428864 54428864 single base substitution G A downstream_gene_variant PACA-CA 5 54428864 54428864 single base substitution G A intron_variant PACA-CA 5 54428890 54428890 single base substitution T A downstream_gene_variant PACA-CA 5 54428890 54428890 single base substitution T A intron_variant PACA-CA 5 54435257 54435257 single base substitution G A intron_variant PACA-CA 5 54435818 54435818 single base substitution G C intron_variant PACA-CA 5 54443675 54443675 single base substitution A T intron_variant PACA-CA 5 54444040 54444040 single base substitution G T intron_variant PACA-CA 5 54445641 54445641 single base substitution C A intron_variant PACA-CA 5 54446270 54446270 single base substitution G T intron_variant PACA-CA 5 54447447 54447447 single base substitution C T intron_variant PACA-CA 5 54448694 54448694 single base substitution G A intron_variant PACA-CA 5 54450161 54450161 single base substitution A T intron_variant PACA-CA 5 54456178 54456178 single base substitution A C intron_variant PACA-CA 5 54456857 54456857 single base substitution A G intron_variant PACA-CA 5 54459327 54459327 deletion of <=200bp T - intron_variant PACA-CA 5 54462930 54462938 deletion of <=200bp TGTCGTTCT - intron_variant PACA-CA 5 54464675 54464675 single base substitution G A intron_variant PACA-CA 5 54465724 54465724 single base substitution G A intron_variant PACA-CA 5 54469964 54469964 single base substitution C T upstream_gene_variant PAEN-AU 5 54420467 54420467 single base substitution G A intron_variant PAEN-AU 5 54442051 54442051 single base substitution C A intron_variant PAEN-AU 5 54464014 54464014 single base substitution G C intron_variant PAEN-IT 5 54404830 54404830 single base substitution A G downstream_gene_variant PAEN-IT 5 54408454 54408454 single base substitution T C downstream_gene_variant PAEN-IT 5 54472431 54472431 single base substitution G T upstream_gene_variant PBCA-DE 5 54409780 54409780 single base substitution A G 3_prime_UTR_variant PBCA-DE 5 54409780 54409780 single base substitution A G downstream_gene_variant PBCA-DE 5 54411707 54411708 deletion of <=200bp CA - downstream_gene_variant PBCA-DE 5 54411707 54411708 deletion of <=200bp CA - intron_variant PBCA-DE 5 54416414 54416414 single base substitution C A intron_variant PBCA-DE 5 54417958 54417958 single base substitution C A intron_variant PBCA-DE 5 54419293 54419293 single base substitution T A intron_variant PBCA-DE 5 54427146 54427146 single base substitution C T downstream_gene_variant PBCA-DE 5 54427146 54427146 single base substitution C T intron_variant PBCA-DE 5 54427886 54427886 insertion of <=200bp - A downstream_gene_variant PBCA-DE 5 54427886 54427886 insertion of <=200bp - A intron_variant PBCA-DE 5 54430427 54430427 insertion of <=200bp - A downstream_gene_variant PBCA-DE 5 54430427 54430427 insertion of <=200bp - A intron_variant PBCA-DE 5 54431062 54431063 deletion of <=200bp TA - downstream_gene_variant PBCA-DE 5 54431062 54431063 deletion of <=200bp TA - intron_variant PBCA-DE 5 54434561 54434561 deletion of <=200bp A - intron_variant PBCA-DE 5 54442271 54442271 single base substitution A G intron_variant PBCA-DE 5 54444080 54444080 deletion of <=200bp T - intron_variant PBCA-DE 5 54449525 54449525 single base substitution T A intron_variant PBCA-DE 5 54468275 54468275 deletion of <=200bp T - intron_variant PBCA-DE 5 54469879 54469879 single base substitution C A upstream_gene_variant PRAD-CA 5 54420893 54420893 single base substitution G T intron_variant PRAD-CA 5 54426275 54426275 single base substitution T C intron_variant PRAD-CA 5 54436080 54436080 single base substitution A T intron_variant PRAD-CA 5 54437249 54437249 single base substitution C A intron_variant PRAD-CA 5 54443084 54443084 single base substitution T C intron_variant PRAD-CA 5 54458763 54458763 single base substitution T C intron_variant PRAD-CA 5 54458904 54458904 single base substitution G A intron_variant PRAD-CA 5 54462845 54462845 single base substitution G T intron_variant PRAD-CA 5 54468921 54468921 single base substitution C T 5_prime_UTR_variant PRAD-CA 5 54468921 54468921 single base substitution C T upstream_gene_variant PRAD-CA 5 54471439 54471439 single base substitution T C upstream_gene_variant PRAD-CA 5 54472174 54472174 single base substitution A C upstream_gene_variant PRAD-UK 5 54403919 54403919 single base substitution A C downstream_gene_variant PRAD-UK 5 54409413 54409413 single base substitution G T 3_prime_UTR_variant PRAD-UK 5 54409413 54409413 single base substitution G T downstream_gene_variant PRAD-UK 5 54409557 54409557 single base substitution A C 3_prime_UTR_variant PRAD-UK 5 54409557 54409557 single base substitution A C downstream_gene_variant PRAD-UK 5 54413744 54413744 deletion of <=200bp C - downstream_gene_variant PRAD-UK 5 54413744 54413744 deletion of <=200bp C - intron_variant PRAD-UK 5 54423873 54423873 deletion of <=200bp A - intron_variant PRAD-UK 5 54436378 54436378 single base substitution T C intron_variant PRAD-UK 5 54440991 54440991 single base substitution T C intron_variant PRAD-UK 5 54444475 54444475 single base substitution G C intron_variant PRAD-UK 5 54444476 54444476 single base substitution C T intron_variant PRAD-UK 5 54468106 54468106 single base substitution G A intron_variant PRAD-UK 5 54473402 54473402 single base substitution T G upstream_gene_variant PRAD-US 5 54405924 54405924 single base substitution G A downstream_gene_variant PRAD-US 5 54410070 54410070 single base substitution C T 3_prime_UTR_variant PRAD-US 5 54410070 54410070 single base substitution C T synonymous_variant T470T 1410G>A PRAD-US 5 54410070 54410070 single base substitution C T synonymous_variant T508T 1524G>A PRAD-US 5 54410070 54410070 single base substitution C T synonymous_variant T512T 1536G>A PRAD-US 5 54420671 54420671 single base substitution C T 3_prime_UTR_variant PRAD-US 5 54420671 54420671 single base substitution C T missense_variant G392D 1175G>A PRAD-US 5 54442517 54442517 insertion of <=200bp - TC exon_variant PRAD-US 5 54442517 54442517 insertion of <=200bp - TC frameshift_variant Y77Y? PRAD-US 5 54442517 54442517 insertion of <=200bp - TC frameshift_variant Y98Y? READ-US 5 54404089 54404089 single base substitution C A downstream_gene_variant READ-US 5 54405923 54405923 single base substitution C T downstream_gene_variant READ-US 5 54424363 54424363 single base substitution G C exon_variant READ-US 5 54424363 54424363 single base substitution G C missense_variant N260K 780C>G READ-US 5 54436179 54436179 single base substitution T G exon_variant READ-US 5 54436179 54436179 single base substitution T G missense_variant K160N 480A>C READ-US 5 54436179 54436179 single base substitution T G missense_variant K181N 543A>C RECA-EU 5 54407270 54407270 single base substitution T C downstream_gene_variant RECA-EU 5 54414532 54414532 single base substitution A T downstream_gene_variant RECA-EU 5 54414532 54414532 single base substitution A T intron_variant RECA-EU 5 54414533 54414533 single base substitution C A downstream_gene_variant RECA-EU 5 54414533 54414533 single base substitution C A intron_variant RECA-EU 5 54422378 54422378 single base substitution A G intron_variant RECA-EU 5 54431203 54431203 single base substitution A G downstream_gene_variant RECA-EU 5 54431203 54431203 single base substitution A G intron_variant RECA-EU 5 54432261 54432261 single base substitution C A downstream_gene_variant RECA-EU 5 54432261 54432261 single base substitution C A intron_variant RECA-EU 5 54436512 54436512 single base substitution T A intron_variant RECA-EU 5 54437327 54437327 single base substitution T A intron_variant RECA-EU 5 54440222 54440222 single base substitution C T intron_variant RECA-EU 5 54445510 54445510 single base substitution T A intron_variant RECA-EU 5 54452263 54452263 single base substitution C T intron_variant RECA-EU 5 54463140 54463140 single base substitution T A intron_variant RECA-EU 5 54467002 54467002 single base substitution C T intron_variant SKCA-BR 5 54403826 54403826 single base substitution G A downstream_gene_variant SKCA-BR 5 54405203 54405203 single base substitution T C downstream_gene_variant SKCA-BR 5 54407540 54407540 single base substitution C T downstream_gene_variant SKCA-BR 5 54408054 54408054 single base substitution T A downstream_gene_variant SKCA-BR 5 54409522 54409522 single base substitution G A 3_prime_UTR_variant SKCA-BR 5 54409522 54409522 single base substitution G A downstream_gene_variant SKCA-BR 5 54410455 54410455 single base substitution C T intron_variant SKCA-BR 5 54414934 54414934 single base substitution G A downstream_gene_variant SKCA-BR 5 54414934 54414934 single base substitution G A intron_variant SKCA-BR 5 54416786 54416786 single base substitution C T intron_variant SKCA-BR 5 54417340 54417340 insertion of <=200bp - AT intron_variant SKCA-BR 5 54420478 54420478 single base substitution G A intron_variant SKCA-BR 5 54420960 54420960 single base substitution G A intron_variant SKCA-BR 5 54422579 54422579 single base substitution G A intron_variant SKCA-BR 5 54425091 54425091 single base substitution C T intron_variant SKCA-BR 5 54425315 54425315 single base substitution C T intron_variant SKCA-BR 5 54430721 54430721 single base substitution G A downstream_gene_variant SKCA-BR 5 54430721 54430721 single base substitution G A intron_variant SKCA-BR 5 54432588 54432588 single base substitution A T 3_prime_UTR_variant SKCA-BR 5 54432588 54432588 single base substitution A T downstream_gene_variant SKCA-BR 5 54432588 54432588 single base substitution A T intron_variant SKCA-BR 5 54433004 54433005 deletion of <=200bp CA - 3_prime_UTR_variant SKCA-BR 5 54433004 54433005 deletion of <=200bp CA - downstream_gene_variant SKCA-BR 5 54433004 54433005 deletion of <=200bp CA - intron_variant SKCA-BR 5 54433076 54433076 single base substitution T C 3_prime_UTR_variant SKCA-BR 5 54433076 54433076 single base substitution T C downstream_gene_variant SKCA-BR 5 54433076 54433076 single base substitution T C intron_variant SKCA-BR 5 54434568 54434568 single base substitution A T intron_variant SKCA-BR 5 54436090 54436090 single base substitution G A intron_variant SKCA-BR 5 54436925 54436925 single base substitution G A intron_variant SKCA-BR 5 54438906 54438906 single base substitution A G intron_variant SKCA-BR 5 54439892 54439892 single base substitution A G intron_variant SKCA-BR 5 54440261 54440261 single base substitution G A intron_variant SKCA-BR 5 54440402 54440402 single base substitution G T intron_variant SKCA-BR 5 54441345 54441345 single base substitution G A intron_variant SKCA-BR 5 54441818 54441818 single base substitution T A intron_variant SKCA-BR 5 54443040 54443042 deletion of <=200bp TTA - intron_variant SKCA-BR 5 54443718 54443718 single base substitution C T intron_variant SKCA-BR 5 54443833 54443833 single base substitution G A intron_variant SKCA-BR 5 54445293 54445293 single base substitution A T intron_variant SKCA-BR 5 54446435 54446435 single base substitution A G intron_variant SKCA-BR 5 54451785 54451785 single base substitution G A intron_variant SKCA-BR 5 54452258 54452258 single base substitution G A intron_variant SKCA-BR 5 54452651 54452651 single base substitution G C intron_variant SKCA-BR 5 54460959 54460959 single base substitution A G intron_variant SKCA-BR 5 54465941 54465941 insertion of <=200bp - CA intron_variant SKCA-BR 5 54466513 54466513 single base substitution G A intron_variant SKCA-BR 5 54468071 54468071 single base substitution C T intron_variant SKCA-BR 5 54469251 54469251 single base substitution T C upstream_gene_variant SKCA-BR 5 54469290 54469290 single base substitution T G upstream_gene_variant SKCA-BR 5 54472270 54472270 single base substitution T G upstream_gene_variant SKCA-BR 5 54472282 54472282 single base substitution T C upstream_gene_variant SKCA-BR 5 54472285 54472285 single base substitution G C upstream_gene_variant SKCA-BR 5 54473073 54473073 single base substitution C T upstream_gene_variant SKCA-BR 5 54473993 54473993 single base substitution C T upstream_gene_variant SKCM-US 5 54403991 54403991 single base substitution C T downstream_gene_variant SKCM-US 5 54404085 54404085 single base substitution G A downstream_gene_variant SKCM-US 5 54404140 54404140 single base substitution G A downstream_gene_variant SKCM-US 5 54405854 54405854 single base substitution T G downstream_gene_variant SKCM-US 5 54405889 54405889 single base substitution G A downstream_gene_variant SKCM-US 5 54405901 54405901 deletion of <=200bp C - downstream_gene_variant SKCM-US 5 54405901 54405901 single base substitution C T downstream_gene_variant SKCM-US 5 54405998 54405998 single base substitution G C downstream_gene_variant SKCM-US 5 54416286 54416286 single base substitution C T 3_prime_UTR_variant SKCM-US 5 54416286 54416286 single base substitution C T intron_variant SKCM-US 5 54416286 54416286 single base substitution C T synonymous_variant G436G 1308G>A SKCM-US 5 54416363 54416363 single base substitution G A 3_prime_UTR_variant SKCM-US 5 54416363 54416363 single base substitution G A intron_variant SKCM-US 5 54416363 54416363 single base substitution G A missense_variant P411S 1231C>T SKCM-US 5 54416372 54416372 single base substitution C T 3_prime_UTR_variant SKCM-US 5 54416372 54416372 single base substitution C T intron_variant SKCM-US 5 54416372 54416372 single base substitution C T missense_variant D408N 1222G>A SKCM-US 5 54416373 54416373 single base substitution C T 3_prime_UTR_variant SKCM-US 5 54416373 54416373 single base substitution C T intron_variant SKCM-US 5 54416373 54416373 single base substitution C T missense_variant M407I 1221G>A SKCM-US 5 54420689 54420689 single base substitution G A 3_prime_UTR_variant SKCM-US 5 54420689 54420689 single base substitution G A missense_variant P386L 1157C>T SKCM-US 5 54420693 54420693 single base substitution C T 3_prime_UTR_variant SKCM-US 5 54420693 54420693 single base substitution C T missense_variant D385N 1153G>A SKCM-US 5 54420698 54420698 single base substitution G A 3_prime_UTR_variant SKCM-US 5 54420698 54420698 single base substitution G A missense_variant P383L 1148C>T SKCM-US 5 54420789 54420789 single base substitution G A 3_prime_UTR_variant SKCM-US 5 54420789 54420789 single base substitution G A missense_variant R353C 1057C>T SKCM-US 5 54420804 54420804 single base substitution G A 3_prime_UTR_variant SKCM-US 5 54420804 54420804 single base substitution G A missense_variant H348Y 1042C>T SKCM-US 5 54423127 54423127 single base substitution G A exon_variant SKCM-US 5 54423127 54423127 single base substitution G A missense_variant S316L 947C>T SKCM-US 5 54423134 54423134 single base substitution G A exon_variant SKCM-US 5 54423134 54423134 single base substitution G A missense_variant H314Y 940C>T SKCM-US 5 54424406 54424406 single base substitution G A exon_variant SKCM-US 5 54424406 54424406 single base substitution G A missense_variant A246V 737C>T SKCM-US 5 54429240 54429240 single base substitution A G downstream_gene_variant SKCM-US 5 54429240 54429240 single base substitution A G missense_variant Y233H 697T>C SKCM-US 5 54429240 54429240 single base substitution A G splice_region_variant SKCM-US 5 54429251 54429251 single base substitution C T downstream_gene_variant SKCM-US 5 54429251 54429251 single base substitution C T exon_variant SKCM-US 5 54429251 54429251 single base substitution C T missense_variant R229Q 686G>A SKCM-US 5 54429267 54429267 single base substitution G A downstream_gene_variant SKCM-US 5 54429267 54429267 single base substitution G A exon_variant SKCM-US 5 54429267 54429267 single base substitution G A missense_variant H224Y 670C>T SKCM-US 5 54439467 54439467 single base substitution G A exon_variant SKCM-US 5 54439467 54439467 single base substitution G A synonymous_variant S120S 360C>T SKCM-US 5 54439467 54439467 single base substitution G A synonymous_variant S99S 297C>T STAD-US 5 54403958 54403958 single base substitution G A downstream_gene_variant STAD-US 5 54404084 54404084 single base substitution C T downstream_gene_variant STAD-US 5 54404137 54404137 single base substitution A G downstream_gene_variant STAD-US 5 54405923 54405923 single base substitution C T downstream_gene_variant STAD-US 5 54405934 54405934 single base substitution G A downstream_gene_variant STAD-US 5 54415630 54415630 deletion of <=200bp A - downstream_gene_variant STAD-US 5 54415630 54415630 deletion of <=200bp A - frameshift_variant F444 STAD-US 5 54415630 54415630 deletion of <=200bp A - frameshift_variant F486 STAD-US 5 54415630 54415630 deletion of <=200bp A - intron_variant STAD-US 5 54415630 54415630 deletion of <=200bp A - splice_region_variant STAD-US 5 54415675 54415675 single base substitution C A 3_prime_UTR_variant STAD-US 5 54415675 54415675 single base substitution C A synonymous_variant V429V 1287G>T STAD-US 5 54415675 54415675 single base substitution C A synonymous_variant V471V 1413G>T STAD-US 5 54420721 54420721 single base substitution A G 3_prime_UTR_variant STAD-US 5 54420721 54420721 single base substitution A G synonymous_variant S375S 1125T>C STAD-US 5 54423154 54423154 single base substitution C T exon_variant STAD-US 5 54423154 54423154 single base substitution C T missense_variant R307Q 920G>A THCA-SA 5 54404057 54404057 single base substitution C G downstream_gene_variant THCA-SA 5 54406070 54406070 single base substitution G A downstream_gene_variant THCA-SA 5 54460166 54460166 single base substitution T C intron_variant THCA-SA 5 54460596 54460596 single base substitution A G intron_variant THCA-SA 5 54461584 54461584 single base substitution C T intron_variant THCA-SA 5 54461990 54461990 single base substitution A G intron_variant THCA-SA 5 54462934 54462934 single base substitution G A intron_variant THCA-SA 5 54466544 54466544 single base substitution A G intron_variant THCA-US 5 54456042 54456042 single base substitution C T intron_variant UCEC-US 5 54404199 54404199 single base substitution C T downstream_gene_variant UCEC-US 5 54405888 54405888 single base substitution C T downstream_gene_variant UCEC-US 5 54416281 54416281 single base substitution C T 3_prime_UTR_variant UCEC-US 5 54416281 54416281 single base substitution C T intron_variant UCEC-US 5 54416281 54416281 single base substitution C T missense_variant S438N 1313G>A UCEC-US 5 54420677 54420677 single base substitution G A 3_prime_UTR_variant UCEC-US 5 54420677 54420677 single base substitution G A missense_variant A390V 1169C>T UCEC-US 5 54423137 54423137 single base substitution C T exon_variant UCEC-US 5 54423137 54423137 single base substitution C T missense_variant G313S 937G>A UCEC-US 5 54424248 54424248 single base substitution C A splice_donor_variant UCEC-US 5 54424271 54424271 single base substitution C T exon_variant UCEC-US 5 54424271 54424271 single base substitution C T missense_variant G291D 872G>A UCEC-US 5 54456034 54456034 single base substitution C T intron_variant UCEC-US 5 54456219 54456219 single base substitution G T intron_variant UCEC-US 5 54457005 54457005 single base substitution T G intron_variant UCEC-US 5 54466484 54466484 single base substitution A G intron_variant UCEC-US 5 54468474 54468474 single base substitution C A exon_variant UCEC-US 5 54468474 54468474 single base substitution C A intron_variant UCEC-US 5 54468474 54468474 single base substitution C A missense_variant S23I 68G>T UCEC-US 5 54468474 54468474 single base substitution C T exon_variant UCEC-US 5 54468474 54468474 single base substitution C T intron_variant UCEC-US 5 54468474 54468474 single base substitution C T missense_variant S23N 68G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand LUAD-RT-S01777 COSM382374 c.1435G>C p.V479L Substitution - Missense 5:55119825-55119825 - TCGA-AM-5821-01 COSM149837 c.1047T>G p.V349V Substitution - coding silent 5:55124971-55124971 - SS6003133 COSM3413877 c.391G>T p.G131* Substitution - Nonsense 5:55143608-55143608 - ESCC_BICR_032T COSM5432003 c.416delC p.A139fs*27 Deletion - Frameshift 5:55143583-55143583 - TCGA-A2-A0CM-01 COSM449758 c.552C>G p.L184L Substitution - coding silent 5:55140342-55140342 - LUAD-E00934 COSM393719 c.171C>T p.N57N Substitution - coding silent 5:55146812-55146812 - CSCC-31-T COSM4502276 c.609C>T p.S203S Substitution - coding silent 5:55133500-55133500 - T2269 COSM3617039 c.686G>A p.R229Q Substitution - Missense 5:55133423-55133423 - TCGA-FW-A3R5-06 COSM3920188 c.1308G>A p.G436G Substitution - coding silent 5:55120458-55120458 - PT49 COSM5934945 c.1099G>A p.G367S Substitution - Missense 5:55124919-55124919 - CSCC-18-T COSM4569736 c.197T>C p.V66A Substitution - Missense 5:55146786-55146786 - TCGA-HT-7882-01 COSM3975571 c.798C>A p.N266K Substitution - Missense 5:55128517-55128517 - TCGA-BQ-5875-01 COSM3994348 c.691G>T p.D231Y Substitution - Missense 5:55133418-55133418 - 8044091 COSM3393607 c.238A>C p.S80R Substitution - Missense 5:55146745-55146745 - CSCC-55-T COSM4546060 c.391G>A p.G131R Substitution - Missense 5:55143608-55143608 - ESCC_BICR_060T COSM191761 c.1146G>A p.W382* Substitution - Nonsense 5:55124872-55124872 - TCGA-CM-5861-01 COSM1437848 c.546G>A p.M182I Substitution - Missense 5:55140348-55140348 - LUAD_E01147 COSM390635 c.997A>C p.R333R Substitution - coding silent 5:55125021-55125021 - ESCC_57 COSM5632421 c.420C>G p.L140L Substitution - coding silent 5:55143579-55143579 - TCGA-H9-A6BY-01 COSM3783909 c.1524G>A p.T508T Substitution - coding silent 5:55114242-55114242 - YUPAER COSM5403619 c.1350C>T p.S450S Substitution - coding silent 5:55119910-55119910 - CDGLIV0707A0251_T COSM5040602 c.1406A>T p.N469I Substitution - Missense 5:55119854-55119854 - GC8_T COSM149837 c.1047T>G p.V349V Substitution - coding silent 5:55124971-55124971 - DLD1 COSM4625570 c.54G>T p.E18D Substitution - Missense 5:55172947-55172947 - ESO-721 COSM1247745 c.635T>G p.I212R Substitution - Missense 5:55133474-55133474 - Gp2D COSM3344006 c.163A>T p.K55* Substitution - Nonsense 5:55146820-55146820 - TCGA-HT-7879-01 COSM3975574 c.661G>A p.V221M Substitution - Missense 5:55133448-55133448 - LUAD-NYU184 COSM370888 c.1105C>A p.L369M Substitution - Missense 5:55124913-55124913 - T2269 COSM4670636 c.1264G>T p.G422* Substitution - Nonsense 5:55120502-55120502 - BD14T COSM5517100 c.519C>T p.N173N Substitution - coding silent 5:55140375-55140375 - Gp5D COSM3344006 c.163A>T p.K55* Substitution - Nonsense 5:55146820-55146820 - CHEWS011 COSM4585900 c.1448-1G>A p.? Unknown 5:55114319-55114319 - SS6003149 COSM3965651 c.1306G>C p.G436R Substitution - Missense 5:55120460-55120460 - ESO-085 COSM1247744 c.236A>T p.Q79L Substitution - Missense 5:55146747-55146747 - GC8_T COSM149836 c.1495C>T p.R499W Substitution - Missense 5:55114271-55114271 - 2521259 COSM5890071 c.1249C>T p.L417F Substitution - Missense 5:55120517-55120517 - LUAD-E00897 COSM364661 c.1216-1G>T p.? Unknown 5:55120551-55120551 - TCGA-EE-A181-06 COSM3617031 c.947C>T p.S316L Substitution - Missense 5:55127299-55127299 - ESCC_40 COSM5629435 c.899G>A p.W300* Substitution - Nonsense 5:55127347-55127347 - YUKLAB COSM1695780 c.47A>G p.E16G Substitution - Missense 5:55172954-55172954 - HCT15 COSM4625570 c.54G>T p.E18D Substitution - Missense 5:55172947-55172947 - TCGA-61-1904-01 COSM1328762 c.260C>T p.S87F Substitution - Missense 5:55146723-55146723 - TCGA-27-1831-01 COSM293443 c.920G>A p.R307Q Substitution - Missense 5:55127326-55127326 - TCGA-AA-3516-01 COSM291535 c.2T>C p.M1T Substitution - Missense 5:55172999-55172999 - OPM2 COSM1235983 c.443C>A p.A148E Substitution - Missense 5:55143556-55143556 - PS-352-2D COSM4423991 c.25_26insG p.A9fs*40 Insertion - Frameshift 5:55172975-55172976 - HB3 COSM5346140 c.919C>T p.R307W Substitution - Missense 5:55127327-55127327 - 587376 COSM1200344 c.367G>T p.E123* Substitution - Nonsense 5:55143632-55143632 - TCGA-IR-A3LH-01 COSM4833523 c.995C>G p.S332* Substitution - Nonsense 5:55125023-55125023 - HCC058T COSM5805288 c.1416T>A p.T472T Substitution - coding silent 5:55119844-55119844 - TCGA-EE-A181-06 COSM3617039 c.686G>A p.R229Q Substitution - Missense 5:55133423-55133423 - TCGA-BR-4368-01 COSM293443 c.920G>A p.R307Q Substitution - Missense 5:55127326-55127326 - TCGA-BR-8077-01 COSM3855593 c.1413G>T p.V471V Substitution - coding silent 5:55119847-55119847 - TCGA-CM-6162-01 COSM1437845 c.1279C>T p.R427C Substitution - Missense 5:55120487-55120487 - TCGA-18-3409-01 COSM738527 c.1349C>T p.S450F Substitution - Missense 5:55119911-55119911 - TCGA-FW-A3R5-06 COSM3920191 c.670C>T p.H224Y Substitution - Missense 5:55133439-55133439 - TCGA-BL-A3JM-01 COSM1311209 c.1497G>A p.R499R Substitution - coding silent 5:55114269-55114269 - HCC97 COSM1620385 c.758T>C p.V253A Substitution - Missense 5:55128557-55128557 - 587332 COSM1200343 c.1207G>A p.A403T Substitution - Missense 5:55124811-55124811 - 1_RESISTANT COSM1718365 c.1129G>A p.G377R Substitution - Missense 5:55124889-55124889 - CSCC-27-T COSM4545815 c.386G>A p.S129N Substitution - Missense 5:55143613-55143613 - PT50 COSM5905606 c.230G>A p.W77* Substitution - Nonsense 5:55146753-55146753 - YUJUBE COSM5403622 c.651C>T p.L217L Substitution - coding silent 5:55133458-55133458 - CHC1754T COSM4792650 c.1387G>T p.G463C Substitution - Missense 5:55119873-55119873 - GC8_T COSM149838 c.989+10G>A p.? Unknown 5:55127247-55127247 - TCGA-AA-3489-01 COSM1437850 c.226A>T p.R76W Substitution - Missense 5:55146757-55146757 - LUAD-NYU259 COSM371935 c.1324C>A p.P442T Substitution - Missense 5:55120442-55120442 - CSCC-54-T COSM4553880 c.604G>A p.E202K Substitution - Missense 5:55133505-55133505 - HCC97T COSM1620385 c.758T>C p.V253A Substitution - Missense 5:55128557-55128557 - AA2021 COSM3343990 c.901G>A p.D301N Substitution - Missense 5:55127345-55127345 - TCGA-BH-A18V-01 COSM449757 c.597C>G p.V199V Substitution - coding silent 5:55133512-55133512 - 40M COSM3920188 c.1308G>A p.G436G Substitution - coding silent 5:55120458-55120458 - YUMAN COSM1685977 c.982C>T p.L328F Substitution - Missense 5:55127264-55127264 - TCGA-DD-A73D-01 COSM4935311 c.1069G>T p.A357S Substitution - Missense 5:55124949-55124949 - TCGA-G4-6625-01 COSM1437849 c.409A>T p.N137Y Substitution - Missense 5:55143590-55143590 - YUTUR COSM5403621 c.1231_1232CC>TT p.P411F Substitution - Missense 5:55120534-55120535 - TCGA-AM-5821-01 COSM149836 c.1495C>T p.R499W Substitution - Missense 5:55114271-55114271 - TCGA-AA-3510-01 COSM1200344 c.367G>T p.E123* Substitution - Nonsense 5:55143632-55143632 - TCGA-EE-A29M-06 COSM3617029 c.1057C>T p.R353C Substitution - Missense 5:55124961-55124961 - TCGA-BR-4361-01 COSM3855595 c.1125T>C p.S375S Substitution - coding silent 5:55124893-55124893 - TCGA-GN-A263-01 COSM3617025 c.1153G>A p.D385N Substitution - Missense 5:55124865-55124865 - GBM_IV-19 COSM4966983 c.556G>C p.E186Q Substitution - Missense 5:55140338-55140338 - TCGA-EE-A3J5-06 COSM3617039 c.686G>A p.R229Q Substitution - Missense 5:55133423-55133423 - TCGA-B0-4815-01 COSM482882 c.1447+7T>G p.? Unknown 5:55119806-55119806 - 587376 COSM1200345 c.101A>C p.Q34P Substitution - Missense 5:55172613-55172613 - TCGA-EE-A182-06 COSM3617033 c.940C>T p.H314Y Substitution - Missense 5:55127306-55127306 - TCGA-66-2744-01 COSM738524 c.249G>T p.R83S Substitution - Missense 5:55146734-55146734 - CHC1754T COSM4792650 c.1387G>T p.G463C Substitution - Missense 5:55119873-55119873 - CHEWS027 COSM3344005 c.177G>C p.A59A Substitution - coding silent 5:55146806-55146806 - T96 COSM4670637 c.1020C>T p.H340H Substitution - coding silent 5:55124998-55124998 - TCGA-D9-A1JW-06 COSM3617022 c.1222G>A p.D408N Substitution - Missense 5:55120544-55120544 - TCGA-AP-A056-01 COSM1068792 c.872G>A p.G291D Substitution - Missense 5:55128443-55128443 - TCGA-EE-A20B-06 COSM3617023 c.1157C>T p.P386L Substitution - Missense 5:55124861-55124861 - ESCC_46 COSM5630585 c.260C>G p.S87C Substitution - Missense 5:55146723-55146723 - 587376 COSM191766 c.565G>A p.E189K Substitution - Missense 5:55140329-55140329 - TCGA-EB-A41A-01 COSM3617035 c.737C>T p.A246V Substitution - Missense 5:55128578-55128578 - TCGA-AP-A051-01 COSM1068790 c.937G>A p.G313S Substitution - Missense 5:55127309-55127309 - RK201_C01 COSM3768796 c.226A>C p.R76R Substitution - coding silent 5:55146757-55146757 - TCGA-AP-A0LM-01 COSM1068796 c.68G>A p.S23N Substitution - Missense 5:55172646-55172646 - 2881_T COSM3947603 c.1034C>A p.A345D Substitution - Missense 5:55124984-55124984 - 1_PRE-TREATMENT COSM1718365 c.1129G>A p.G377R Substitution - Missense 5:55124889-55124889 - CSCC-11-T COSM4445603 c.895-3C>T p.? Unknown 5:55127354-55127354 - C086 COSM5528405 c.973C>T p.H325Y Substitution - Missense 5:55127273-55127273 - TCGA-A8-A08F-01 COSM449760 c.133G>C p.D45H Substitution - Missense 5:55146850-55146850 - TCGA-AD-6895-01 COSM3686320 c.895-4_895-3insT p.? Unknown 5:55127354-55127355 - TCGA-EE-A3AB-06 COSM3617037 c.697T>C p.Y233H Substitution - Missense 5:55133412-55133412 - TCGA-EI-6917-01 COSM3429518 c.543A>C p.K181N Substitution - Missense 5:55140351-55140351 - TCGA-AX-A0J1-01 COSM1068789 c.1169C>T p.A390V Substitution - Missense 5:55124849-55124849 - ccRCC-88 COSM1661064 c.1455G>T p.R485S Substitution - Missense 5:55114311-55114311 - ME044T COSM228981 c.854G>A p.G285E Substitution - Missense 5:55128461-55128461 - YUSIPU COSM738527 c.1349C>T p.S450F Substitution - Missense 5:55119911-55119911 - TCGA-FR-A3YO-06 COSM3343983 c.1221G>A p.M407I Substitution - Missense 5:55120545-55120545 - TCGA-FV-A2QQ-01 COSM4910808 c.65A>G p.E22G Substitution - Missense 5:55172649-55172649 - CDGLIV0709A0255_T COSM5039071 c.1175G>T p.G392V Substitution - Missense 5:55124843-55124843 - TCGA-EB-A431-01 COSM3617021 c.1231C>T p.P411S Substitution - Missense 5:55120535-55120535 - TCGA-CS-4942-01 COSM3975577 c.492C>T p.C164C Substitution - coding silent 5:55140402-55140402 - 587328 COSM1200342 c.1094C>G p.P365R Substitution - Missense 5:55124924-55124924 - T2269 COSM4670640 c.926G>T p.R309I Substitution - Missense 5:55127320-55127320 - TCGA-G2-A2ES-01 COSM449758 c.552C>G p.L184L Substitution - coding silent 5:55140342-55140342 - TCGA-B5-A0JY-01 COSM1068791 c.894+1G>T p.? Unknown 5:55128420-55128420 - TCGA-B5-A11E-01 COSM1068797 c.68G>T p.S23I Substitution - Missense 5:55172646-55172646 - TCGA-37-3783-01 COSM738526 c.1160G>A p.G387D Substitution - Missense 5:55124858-55124858 - TCGA-KK-A6E3-01 COSM4877772 c.1175G>A p.G392D Substitution - Missense 5:55124843-55124843 - TCGA-DC-6155-01 COSM1567662 c.780C>G p.N260K Substitution - Missense 5:55128535-55128535 - TCGA-AA-3696-01 COSM293443 c.920G>A p.R307Q Substitution - Missense 5:55127326-55127326 - 450 COSM4435669 c.254T>A p.L85Q Substitution - Missense 5:55146729-55146729 - HDC101 COSM3617039 c.686G>A p.R229Q Substitution - Missense 5:55133423-55133423 - PDA_067 COSM5001470 c.361C>T p.R121C Substitution - Missense 5:55143638-55143638 - CHEWS031 COSM4585902 c.732T>A p.L244L Substitution - coding silent 5:55128583-55128583 - SJHGG073_A COSM4971373 c.484C>A p.Q162K Substitution - Missense 5:55143515-55143515 - TCGA-D1-A16X-01 COSM1068788 c.1313G>A p.S438N Substitution - Missense 5:55120453-55120453 - HN_62984 COSM126608 c.685C>T p.R229* Substitution - Nonsense 5:55133424-55133424 - TCGA-GN-A266-06 COSM3617027 c.1148C>T p.P383L Substitution - Missense 5:55124870-55124870 - ME032T COSM227259 c.1259G>A p.G420E Substitution - Missense 5:55120507-55120507 - TCGA-FW-A3R5-06 COSM3920189 c.1042C>T p.H348Y Substitution - Missense 5:55124976-55124976 - YUPRO COSM1685977 c.982C>T p.L328F Substitution - Missense 5:55127264-55127264 - PT27 COSM5905606 c.230G>A p.W77* Substitution - Nonsense 5:55146753-55146753 - TCGA-ER-A193-06 COSM3617041 c.360C>T p.S120S Substitution - coding silent 5:55143639-55143639 - TCGA-G3-A3CK-01 COSM4922263 c.237A>C p.Q79H Substitution - Missense 5:55146746-55146746 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.669116;Hs.669117;Hs.669118;Hs.669119;Hs.669120;Hs.669121;Hs.669122;Hs.669124;Hs.669125;Hs.669126;Hs.669128;Hs.669129;Hs.669130;Hs.669131;Hs.669132;Hs.669134;Hs.669135;Hs.669136;Hs.669138;Hs.669139;Hs.669140;Hs.669141;Hs.669142;Hs.669144;Hs.669146;Hs.669147;Hs.669148;Hs.669149;Hs.669150;Hs.669151;Hs.669152;Hs.669153;Hs.669154;Hs.669155;Hs.669156;Hs.669157;Hs.669158;Hs.669159;Hs.669160;Hs.669162;Hs.669163;Hs.669164;Hs.669165;Hs.669166;Hs.669167;Hs.669169;Hs.669171;Hs.669172;Hs.669174;Hs.669175;Hs.669177;Hs.669178;Hs.669179;Hs.669180;Hs.669181;Hs.669182;Hs.669183;Hs.669184 5q11.2

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.F485C c.1454T>G 5 54415634 RCCC A C Missense p.I212R c.635T>G 5 54429302 ESCA A G Missense p.S159P c.475T>C 5 54439352 CM A G Missense p.Y233H c.697T>C 5 54429240 CM A G Synonymous p.G210G c.630T>C 5 54429307 LUAD C A Missense p.G392C c.1174G>T 5 54420672 LUAD C A Missense p.G421V c.1262G>T 5 54416332 STAD C A Missense p.M311I c.933G>T 5 54423141 LUAD C A Missense p.R83S c.249G>T 5 54442562 LUSC C G Missense p.D45H c.133G>C 5 54442678 BRCA C G Missense p.W363C c.1089G>C 5 54420757 LUAD C T IntronicSNV . c.126+6370G>A 5 54462046 HC C T Missense p.D150N c.448G>A 5 54439379 CM C T Missense p.D385N c.1153G>A 5 54420693 CM C T Missense p.D408N c.1222G>A 5 54416372 CM C T Missense p.E265K c.793G>A 5 54424350 CM C T Missense p.G285E c.854G>A 5 54424289 CM C T Missense p.G331E c.992G>A 5 54420854 CM C T Missense p.G373S c.1117G>A 5 54420729 HNSC C T Missense p.G387D c.1160G>A 5 54420686 LUSC C T Missense p.G392D c.1175G>A 5 54420671 PRAD C T Missense p.R229Q c.686G>A 5 54429251 CM C T Missense p.R307Q c.920G>A 5 54423154 COREAD C T Missense p.R307Q c.920G>A 5 54423154 GBM C T Missense p.R307Q c.920G>A 5 54423154 STAD C T Missense p.V174M c.520G>A 5 54436202 BRCA C T Synonymous p.R503R c.1509G>A 5 54410097 BLCA C T Synonymous p.T512T c.1536G>A 5 54410070 PRAD G A Missense p.H314Y c.940C>T 5 54423134 CM G A Missense p.P386L c.1157C>T 5 54420689 CM G A Missense p.P467L c.1400C>T 5 54415688 CM G A Missense p.S316L c.947C>T 5 54423127 CM G A Nonsense p.R229* c.685C>T 5 54429252 HNSC G A Synonymous p.C164C c.492C>T 5 54436230 LGG G A Synonymous p.S120S c.360C>T 5 54439467 CM G C Synonymous p.L184L c.552C>G 5 54436170 BLCA G C Synonymous p.L184L c.552C>G 5 54436170 BRCA G C Synonymous p.V199V c.597C>G 5 54429340 BRCA GCTT - Frameshift p.E101Vfs*6 c.302_305delAAGC 5 54442506 HNSC G T IntronicSNV . c.126+2065C>A 5 54466351 NSCLC T A Missense p.Q79L c.236A>T 5 54442575 ESCA T C Missense p.N324S c.971A>G 5 54423103 CM - TC Nonsense p.Y98*fs*1 c.292_293insGA 5 54442518 PRAD T G Synonymous p.A390A c.1170A>C 5 54420676 CM T G Synonymous p.A461A c.1383A>C 5 54415705 LUAD