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 3 49050036 49050036 + Missense_Mutation SNP G G T TCGA-OR-A5L1-01A-11D-A30A-10 TCGA-OR-A5L1-10A-01D-A30A-10 g.chr3:49050036G>T c.1069G>T c.(1069-1071)Gct>Tct p.A357S BLCA 3 49044877 49044877 + Missense_Mutation SNP G G A TCGA-ZF-A9RC-01A-11D-A38G-08 TCGA-ZF-A9RC-10A-01D-A38J-08 g.chr3:49044877G>A c.13G>A c.(13-15)Gag>Aag p.E5K BLCA 3 49044905 49044905 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr3:49044905C>T c.41C>T c.(40-42)tCg>tTg p.S14L BLCA 3 49049462 49049462 + Silent SNP G G A TCGA-G2-A2EO-01A-11D-A17V-08 TCGA-G2-A2EO-11A-21D-A17V-08 g.chr3:49049462G>A c.495G>A c.(493-495)ctG>ctA p.L165L BLCA 3 49049837 49049837 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 g.chr3:49049837C>T c.870C>T c.(868-870)ctC>ctT p.L290L BLCA 3 49050213 49050213 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 g.chr3:49050213C>T c.1246C>T c.(1246-1248)Cgt>Tgt p.R416C BLCA 3 49050370 49050370 + Missense_Mutation SNP C C T TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 g.chr3:49050370C>T c.1403C>T c.(1402-1404)tCa>tTa p.S468L BLCA 3 49050477 49050477 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr3:49050477G>A c.1510G>A c.(1510-1512)Gac>Aac p.D504N BLCA 3 49050894 49050894 + Missense_Mutation SNP C C T TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 g.chr3:49050894C>T c.1927C>T c.(1927-1929)Cgg>Tgg p.R643W BLCA 3 49050914 49050914 + Silent SNP C C T TCGA-UY-A78N-01A-12D-A339-08 TCGA-UY-A78N-10A-01D-A339-08 g.chr3:49050914C>T c.1947C>T c.(1945-1947)caC>caT p.H649H BLCA 3 49051011 49051011 + Missense_Mutation SNP T T A TCGA-FD-A3SL-01A-21D-A22Z-08 TCGA-FD-A3SL-10A-01D-A22Z-08 g.chr3:49051011T>A c.2044T>A c.(2044-2046)Tac>Aac p.Y682N BLCA 3 49051149 49051149 + Missense_Mutation SNP G G A TCGA-FD-A6TE-01A-12D-A339-08 TCGA-FD-A6TE-10A-21D-A339-08 g.chr3:49051149G>A c.2182G>A c.(2182-2184)Gat>Aat p.D728N BLCA 3 49051434 49051434 + Missense_Mutation SNP A A G TCGA-4Z-AA87-01A-11D-A391-08 TCGA-4Z-AA87-10A-01D-A394-08 g.chr3:49051434A>G c.2467A>G c.(2467-2469)Agc>Ggc p.S823G BLCA 3 49051451 49051451 + Silent SNP C C T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 g.chr3:49051451C>T c.2484C>T c.(2482-2484)ctC>ctT p.L828L BLCA 3 49051521 49051521 + Missense_Mutation SNP C C G TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 g.chr3:49051521C>G c.2554C>G c.(2554-2556)Cgg>Ggg p.R852G BLCA 3 49051677 49051677 + Missense_Mutation SNP C C T TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 g.chr3:49051677C>T c.2617C>T c.(2617-2619)Ccc>Tcc p.P873S BLCA 3 49052461 49052461 + Missense_Mutation SNP G G C TCGA-FD-A6TC-01A-21D-A339-08 TCGA-FD-A6TC-10A-21D-A339-08 g.chr3:49052461G>C c.3106G>C c.(3106-3108)Gag>Cag p.E1036Q BLCA 3 49052720 49052720 + Nonstop_Mutation SNP G G C TCGA-XF-AAN0-01A-11D-A42E-08 TCGA-XF-AAN0-10A-01D-A42H-08 g.chr3:49052720G>C c.3365G>C c.(3364-3366)tGa>tCa p.*1122S BRCA 3 49049490 49049490 + Missense_Mutation SNP A A G TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 g.chr3:49049490A>G c.523A>G c.(523-525)Ata>Gta p.I175V BRCA 3 49049680 49049680 + Missense_Mutation SNP T T G TCGA-A2-A0T5-01A-21D-A099-09 TCGA-A2-A0T5-10A-01D-A099-09 g.chr3:49049680T>G c.713T>G c.(712-714)gTg>gGg p.V238G BRCA 3 49049714 49049714 + Silent SNP G G A TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr3:49049714G>A c.747G>A c.(745-747)caG>caA p.Q249Q BRCA 3 49050384 49050384 + Missense_Mutation SNP G G C TCGA-GM-A2DB-01A-31D-A19Y-09 TCGA-GM-A2DB-10C-01D-A18P-09 g.chr3:49050384G>C c.1417G>C c.(1417-1419)Ggc>Cgc p.G473R BRCA 3 49050454 49050455 + Missense_Mutation DNP GC GC AT TCGA-E2-A15F-01A-11D-A10Y-09 TCGA-E2-A15F-10A-01D-A110-09 g.chr3:49050454_49050455GC>AT c.1487_1488GC>AT c.(1486-1488)tGC>tAT p.C496Y BRCA 3 49050837 49050837 + Missense_Mutation SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 g.chr3:49050837G>A c.1870G>A c.(1870-1872)Gat>Aat p.D624N BRCA 3 49051381 49051382 + Frame_Shift_Ins INS - - G TCGA-A8-A06Y-01A-21W-A019-09 TCGA-A8-A06Y-10A-01W-A021-09 g.chr3:49051381_49051382insG c.2414_2415insG c.(2413-2418)gcggggfs p.AG805fs BRCA 3 49051823 49051823 + Missense_Mutation SNP C C G TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr3:49051823C>G c.2674C>G c.(2674-2676)Ctt>Gtt p.L892V BRCA 3 49052659 49052659 + Missense_Mutation SNP G G C TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 g.chr3:49052659G>C c.3304G>C c.(3304-3306)Gag>Cag p.E1102Q CESC 3 49049120 49049120 + Silent SNP G G C TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 g.chr3:49049120G>C c.153G>C c.(151-153)cgG>cgC p.R51R CESC 3 49049138 49049138 + Silent SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 g.chr3:49049138G>A c.171G>A c.(169-171)caG>caA p.Q57Q CESC 3 49049208 49049208 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 g.chr3:49049208G>C c.241G>C c.(241-243)Gag>Cag p.E81Q CESC 3 49049889 49049889 + Missense_Mutation SNP G G A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 g.chr3:49049889G>A c.922G>A c.(922-924)Gag>Aag p.E308K CESC 3 49049891 49049891 + Silent SNP G G A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 g.chr3:49049891G>A c.924G>A c.(922-924)gaG>gaA p.E308E CESC 3 49049972 49049972 + Silent SNP G G A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 g.chr3:49049972G>A c.1005G>A c.(1003-1005)ttG>ttA p.L335L CESC 3 49050363 49050363 + Missense_Mutation SNP G G C TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 g.chr3:49050363G>C c.1396G>C c.(1396-1398)Gag>Cag p.E466Q CESC 3 49050409 49050409 + Missense_Mutation SNP G G A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 g.chr3:49050409G>A c.1442G>A c.(1441-1443)cGt>cAt p.R481H CESC 3 49051433 49051433 + Silent SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 g.chr3:49051433C>T c.2466C>T c.(2464-2466)ccC>ccT p.P822P CESC 3 49051891 49051891 + Silent SNP C C G TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 g.chr3:49051891C>G c.2742C>G c.(2740-2742)ctC>ctG p.L914L CESC 3 49052061 49052061 + Missense_Mutation SNP G G A TCGA-C5-A7CJ-01A-11D-A32I-09 TCGA-C5-A7CJ-10A-01D-A32I-09 g.chr3:49052061G>A c.2812G>A c.(2812-2814)Gat>Aat p.D938N COAD 3 49049641 49049641 + Missense_Mutation SNP C C T TCGA-CM-5348-01A-21D-1719-10 TCGA-CM-5348-10A-01D-1719-10 g.chr3:49049641C>T c.674C>T c.(673-675)gCt>gTt p.A225V COAD 3 49050135 49050135 + Missense_Mutation SNP T T C TCGA-CM-6172-01A-11D-1650-10 TCGA-CM-6172-10A-01D-1650-10 g.chr3:49050135T>C c.1168T>C c.(1168-1170)Ttc>Ctc p.F390L COAD 3 49050892 49050892 + Missense_Mutation SNP C C A TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr3:49050892C>A c.1925C>A c.(1924-1926)cCt>cAt p.P642H COAD 3 49051179 49051179 + Missense_Mutation SNP G G A TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr3:49051179G>A c.2212G>A c.(2212-2214)Gac>Aac p.D738N COAD 3 49051263 49051263 + Missense_Mutation SNP G G A TCGA-AA-3866-01A-01W-0995-10 TCGA-AA-3866-10A-01W-0995-10 g.chr3:49051263G>A c.2296G>A c.(2296-2298)Gca>Aca p.A766T COAD 3 49051280 49051280 + Silent SNP T T C TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr3:49051280T>C c.2313T>C c.(2311-2313)tgT>tgC p.C771C COAD 3 49051482 49051482 + Missense_Mutation SNP C C T TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr3:49051482C>T c.2515C>T c.(2515-2517)Cgg>Tgg p.R839W COAD 3 49051648 49051648 + Missense_Mutation SNP T T C TCGA-CM-4746-01A-01D-1408-10 TCGA-CM-4746-10A-01D-1408-10 g.chr3:49051648T>C c.2588T>C c.(2587-2589)aTg>aCg p.M863T COAD 3 49052306 49052306 + Missense_Mutation SNP A A C TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr3:49052306A>C c.2951A>C c.(2950-2952)aAc>aCc p.N984T COADREAD 3 49049641 49049641 + Missense_Mutation SNP C C T TCGA-CM-5348-01A-21D-1719-10 TCGA-CM-5348-10A-01D-1719-10 g.chr3:49049641C>T c.674C>T c.(673-675)gCt>gTt p.A225V COADREAD 3 49050135 49050135 + Missense_Mutation SNP T T C TCGA-CM-6172-01A-11D-1650-10 TCGA-CM-6172-10A-01D-1650-10 g.chr3:49050135T>C c.1168T>C c.(1168-1170)Ttc>Ctc p.F390L COADREAD 3 49050135 49050135 + Missense_Mutation SNP T T C TCGA-F5-6465-01A-11D-1733-10 TCGA-F5-6465-10A-01D-1733-10 g.chr3:49050135T>C c.1168T>C c.(1168-1170)Ttc>Ctc p.F390L COADREAD 3 49050892 49050892 + Missense_Mutation SNP C C A TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr3:49050892C>A c.1925C>A c.(1924-1926)cCt>cAt p.P642H COADREAD 3 49051072 49051072 + Missense_Mutation SNP G G A TCGA-AH-6549-01A-11D-1826-10 TCGA-AH-6549-10A-01D-1826-10 g.chr3:49051072G>A c.2105G>A c.(2104-2106)cGt>cAt p.R702H COADREAD 3 49051179 49051179 + Missense_Mutation SNP G G A TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr3:49051179G>A c.2212G>A c.(2212-2214)Gac>Aac p.D738N COADREAD 3 49051263 49051263 + Missense_Mutation SNP G G A TCGA-AA-3866-01A-01W-0995-10 TCGA-AA-3866-10A-01W-0995-10 g.chr3:49051263G>A c.2296G>A c.(2296-2298)Gca>Aca p.A766T COADREAD 3 49051280 49051280 + Silent SNP T T C TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr3:49051280T>C c.2313T>C c.(2311-2313)tgT>tgC p.C771C COADREAD 3 49051482 49051482 + Missense_Mutation SNP C C T TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr3:49051482C>T c.2515C>T c.(2515-2517)Cgg>Tgg p.R839W COADREAD 3 49051648 49051648 + Missense_Mutation SNP T T C TCGA-CM-4746-01A-01D-1408-10 TCGA-CM-4746-10A-01D-1408-10 g.chr3:49051648T>C c.2588T>C c.(2587-2589)aTg>aCg p.M863T COADREAD 3 49052280 49052280 + Silent SNP T T C TCGA-G5-6235-01A-11D-1733-10 TCGA-G5-6235-10A-01D-1733-10 g.chr3:49052280T>C c.2925T>C c.(2923-2925)acT>acC p.T975T COADREAD 3 49052306 49052306 + Missense_Mutation SNP A A C TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr3:49052306A>C c.2951A>C c.(2950-2952)aAc>aCc p.N984T DLBC 3 49044932 49044932 + Missense_Mutation SNP G G T TCGA-G8-6325-01A-11D-2210-10 TCGA-G8-6325-10A-01D-2210-10 g.chr3:49044932G>T c.68G>T c.(67-69)gGt>gTt p.G23V ESCA 3 49044854 49044854 + 5'UTR SNP C C G TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 g.chr3:49044854C>G ESCA 3 49050296 49050296 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 g.chr3:49050296G>T c.1329G>T c.(1327-1329)tgG>tgT p.W443C ESCA 3 49051447 49051447 + Missense_Mutation SNP G G T TCGA-LN-A9FP-01A-31D-A387-09 TCGA-LN-A9FP-10A-01D-A38A-09 g.chr3:49051447G>T c.2480G>T c.(2479-2481)cGc>cTc p.R827L ESCA 3 49051540 49051540 + Missense_Mutation SNP C C G TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 g.chr3:49051540C>G c.2573C>G c.(2572-2574)cCa>cGa p.P858R GBMLGG 3 49049221 49049221 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:49049221C>A c.254C>A c.(253-255)gCt>gAt p.A85D GBMLGG 3 49049692 49049692 + Missense_Mutation SNP G G A TCGA-DU-6405-01A-11D-1705-08 TCGA-DU-6405-10A-01D-1705-08 g.chr3:49049692G>A c.725G>A c.(724-726)cGa>cAa p.R242Q GBMLGG 3 49050759 49050759 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:49050759G>A c.1792G>A c.(1792-1794)Gac>Aac p.D598N HNSC 3 49050668 49050668 + Missense_Mutation SNP C C G TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 g.chr3:49050668C>G c.1701C>G c.(1699-1701)caC>caG p.H567Q HNSC 3 49050727 49050727 + Missense_Mutation SNP G G A TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 g.chr3:49050727G>A c.1760G>A c.(1759-1761)cGt>cAt p.R587H KICH 3 49049218 49049218 + Frame_Shift_Del DEL T T - TCGA-KO-8408-01A-11D-2310-10 TCGA-KO-8408-11A-01D-2311-10 g.chr3:49049218delT c.251delT c.(250-252)gtgfs p.V84fs KIPAN 3 49049218 49049218 + Frame_Shift_Del DEL T T - TCGA-KO-8408-01A-11D-2310-10 TCGA-KO-8408-11A-01D-2311-10 g.chr3:49049218delT c.251delT c.(250-252)gtgfs p.V84fs LGG 3 49049221 49049221 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:49049221C>A c.254C>A c.(253-255)gCt>gAt p.A85D LGG 3 49049692 49049692 + Missense_Mutation SNP G G A TCGA-DU-6405-01A-11D-1705-08 TCGA-DU-6405-10A-01D-1705-08 g.chr3:49049692G>A c.725G>A c.(724-726)cGa>cAa p.R242Q LGG 3 49050759 49050759 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:49050759G>A c.1792G>A c.(1792-1794)Gac>Aac p.D598N LIHC 3 49049708 49049708 + Silent SNP G G T TCGA-EP-A2KA-01A-11D-A183-10 TCGA-EP-A2KA-10A-01D-A183-10 g.chr3:49049708G>T c.741G>T c.(739-741)cgG>cgT p.R247R LIHC 3 49051271 49051271 + Silent SNP A A G TCGA-EP-A2KA-01A-11D-A183-10 TCGA-EP-A2KA-10A-01D-A183-10 g.chr3:49051271A>G c.2304A>G c.(2302-2304)acA>acG p.T768T LIHC 3 49052272 49052272 + Missense_Mutation SNP T T C TCGA-BD-A3EP-01A-11D-A22F-10 TCGA-BD-A3EP-11A-12D-A22F-10 g.chr3:49052272T>C c.2917T>C c.(2917-2919)Tcc>Ccc p.S973P LUAD 3 49049550 49049550 + Missense_Mutation SNP G G C TCGA-05-4382-01A-01D-1931-08 TCGA-05-4382-10A-01D-1265-08 g.chr3:49049550G>C c.583G>C c.(583-585)Gac>Cac p.D195H LUAD 3 49049577 49049578 + Frame_Shift_Ins INS - - G TCGA-17-Z053-01A-01W-0747-08 TCGA-17-Z053-11A-01W-0747-08 g.chr3:49049577_49049578insG c.610_611insG c.(610-612)cgafs p.R204fs LUAD 3 49049783 49049783 + Silent SNP C C T TCGA-78-7220-01A-11D-2036-08 TCGA-78-7220-10A-01D-2036-08 g.chr3:49049783C>T c.816C>T c.(814-816)atC>atT p.I272I LUAD 3 49049964 49049964 + Missense_Mutation SNP C C T TCGA-62-A46O-01A-11D-A24D-08 TCGA-62-A46O-10A-01D-A24F-08 g.chr3:49049964C>T c.997C>T c.(997-999)Cgg>Tgg p.R333W LUAD 3 49049969 49049969 + Silent SNP A A C TCGA-05-4424-01A-22D-1855-08 TCGA-05-4424-10A-01D-1855-08 g.chr3:49049969A>C c.1002A>C c.(1000-1002)ggA>ggC p.G334G LUAD 3 49049995 49049995 + Missense_Mutation SNP A A G TCGA-86-7955-01A-11D-2184-08 TCGA-86-7955-10A-01D-2184-08 g.chr3:49049995A>G c.1028A>G c.(1027-1029)aAg>aGg p.K343R LUAD 3 49050635 49050635 + Silent SNP G G T TCGA-69-7979-01A-11D-2184-08 TCGA-69-7979-10A-01D-2184-08 g.chr3:49050635G>T c.1668G>T c.(1666-1668)ggG>ggT p.G556G LUAD 3 49051255 49051255 + Nonsense_Mutation SNP C C G TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 g.chr3:49051255C>G c.2288C>G c.(2287-2289)tCa>tGa p.S763* LUAD 3 49052329 49052329 + Missense_Mutation SNP C C T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 g.chr3:49052329C>T c.2974C>T c.(2974-2976)Cgt>Tgt p.R992C LUAD 3 49052720 49052720 + Silent SNP G G A TCGA-83-5908-01A-21D-2284-08 TCGA-83-5908-10A-01D-2284-08 g.chr3:49052720G>A c.3365G>A c.(3364-3366)tGa>tAa p.*1122* LUSC 3 49050270 49050270 + Missense_Mutation SNP C C T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 g.chr3:49050270C>T c.1303C>T c.(1303-1305)Cct>Tct p.P435S LUSC 3 49051126 49051126 + Missense_Mutation SNP G G C TCGA-66-2793-01A-01D-1267-08 TCGA-66-2793-11A-01D-1267-08 g.chr3:49051126G>C c.2159G>C c.(2158-2160)gGa>gCa p.G720A OV 3 49050042 49050042 + Missense_Mutation SNP T T A TCGA-29-2432-01A-01D-1526-09 TCGA-29-2432-10A-01D-1526-09 g.chr3:49050042T>A c.1075T>A c.(1075-1077)Tct>Act p.S359T OV 3 49050270 49050270 + Missense_Mutation SNP C C T TCGA-23-2645-01A-01W-1091-09 TCGA-23-2645-10A-01W-1091-09 g.chr3:49050270C>T c.1303C>T c.(1303-1305)Cct>Tct p.P435S OV 3 49052115 49052115 + Missense_Mutation SNP G G C TCGA-24-1844-01A-01W-0639-09 TCGA-24-1844-10A-01W-0639-09 g.chr3:49052115G>C c.2866G>C c.(2866-2868)Gtc>Ctc p.V956L OV 3 49052671 49052671 + Missense_Mutation SNP C C T TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 g.chr3:49052671C>T c.3316C>T c.(3316-3318)Cgt>Tgt p.R1106C OV 3 49052721 49052721 + Nonstop_Mutation SNP A A C TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 g.chr3:49052721A>C c.3366A>C c.(3364-3366)tgA>tgC p.*1122C PAAD 3 49049353 49049353 + Missense_Mutation SNP T T C TCGA-US-A776-01A-13D-A33T-08 TCGA-US-A776-11A-11D-A33W-08 g.chr3:49049353T>C c.386T>C c.(385-387)aTa>aCa p.I129T PAAD 3 49049361 49049361 + Missense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:49049361G>T c.394G>T c.(394-396)Gcc>Tcc p.A132S PAAD 3 49049685 49049685 + Missense_Mutation SNP G G A TCGA-2J-AABK-01A-31D-A40W-08 TCGA-2J-AABK-10A-01D-A40W-08 g.chr3:49049685G>A c.718G>A c.(718-720)Gac>Aac p.D240N PAAD 3 49051698 49051698 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:49051698G>A c.2638G>A c.(2638-2640)Gct>Act p.A880T PAAD 3 49051722 49051722 + Missense_Mutation SNP G G A TCGA-FB-AAPP-01A-12D-A40W-08 TCGA-FB-AAPP-11A-11D-A40W-08 g.chr3:49051722G>A c.2662G>A c.(2662-2664)Gta>Ata p.V888I PAAD 3 49051889 49051889 + Missense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:49051889C>A c.2740C>A c.(2740-2742)Ctc>Atc p.L914I PRAD 3 49049664 49049664 + Missense_Mutation SNP G G A TCGA-J9-A52C-01A-11D-A26M-08 TCGA-J9-A52C-10A-01D-A26K-08 g.chr3:49049664G>A c.697G>A c.(697-699)Gtt>Att p.V233I PRAD 3 49050727 49050727 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr3:49050727G>A c.1760G>A c.(1759-1761)cGt>cAt p.R587H PRAD 3 49050849 49050849 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr3:49050849G>A c.1882G>A c.(1882-1884)Gtt>Att p.V628I PRAD 3 49051423 49051423 + Missense_Mutation SNP C C A TCGA-CH-5737-01A-11D-1576-08 TCGA-CH-5737-10A-01D-1576-08 g.chr3:49051423C>A c.2456C>A c.(2455-2457)aCt>aAt p.T819N READ 3 49050135 49050135 + Missense_Mutation SNP T T C TCGA-F5-6465-01A-11D-1733-10 TCGA-F5-6465-10A-01D-1733-10 g.chr3:49050135T>C c.1168T>C c.(1168-1170)Ttc>Ctc p.F390L READ 3 49051072 49051072 + Missense_Mutation SNP G G A TCGA-AH-6549-01A-11D-1826-10 TCGA-AH-6549-10A-01D-1826-10 g.chr3:49051072G>A c.2105G>A c.(2104-2106)cGt>cAt p.R702H READ 3 49052280 49052280 + Silent SNP T T C TCGA-G5-6235-01A-11D-1733-10 TCGA-G5-6235-10A-01D-1733-10 g.chr3:49052280T>C c.2925T>C c.(2923-2925)acT>acC p.T975T SKCM 3 49049243 49049243 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr3:49049243C>T c.276C>T c.(274-276)ctC>ctT p.L92L SKCM 3 49049302 49049302 + Missense_Mutation SNP T T G TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr3:49049302T>G c.335T>G c.(334-336)cTg>cGg p.L112R SKCM 3 49049481 49049481 + Missense_Mutation SNP G G A TCGA-D3-A1Q5-06A-11D-A196-08 TCGA-D3-A1Q5-10A-01D-A198-08 g.chr3:49049481G>A c.514G>A c.(514-516)Gag>Aag p.E172K SKCM 3 49049488 49049488 + Missense_Mutation SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 g.chr3:49049488C>T c.521C>T c.(520-522)aCc>aTc p.T174I SKCM 3 49049835 49049835 + Missense_Mutation SNP C C T TCGA-EE-A3AF-06A-11D-A196-08 TCGA-EE-A3AF-10A-01D-A198-08 g.chr3:49049835C>T c.868C>T c.(868-870)Ctc>Ttc p.L290F SKCM 3 49049985 49049985 + Missense_Mutation SNP C C T TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 g.chr3:49049985C>T c.1018C>T c.(1018-1020)Ctc>Ttc p.L340F SKCM 3 49050182 49050182 + Silent SNP C C T TCGA-D3-A1Q6-06A-11D-A196-08 TCGA-D3-A1Q6-10A-01D-A198-08 g.chr3:49050182C>T c.1215C>T c.(1213-1215)ttC>ttT p.F405F SKCM 3 49050921 49050921 + Missense_Mutation SNP A A C TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr3:49050921A>C c.1954A>C c.(1954-1956)Aac>Cac p.N652H SKCM 3 49051112 49051112 + Silent SNP G G A TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr3:49051112G>A c.2145G>A c.(2143-2145)ctG>ctA p.L715L SKCM 3 49051255 49051255 + Missense_Mutation SNP C C T TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr3:49051255C>T c.2288C>T c.(2287-2289)tCa>tTa p.S763L SKCM 3 49051357 49051357 + Missense_Mutation SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 g.chr3:49051357G>A c.2390G>A c.(2389-2391)gGc>gAc p.G797D SKCM 3 49051440 49051440 + Missense_Mutation SNP C C T TCGA-EE-A2GT-06A-12D-A197-08 TCGA-EE-A2GT-10A-01D-A199-08 g.chr3:49051440C>T c.2473C>T c.(2473-2475)Cca>Tca p.P825S SKCM 3 49052332 49052332 + Nonsense_Mutation SNP G G T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 g.chr3:49052332G>T c.2977G>T c.(2977-2979)Gag>Tag p.E993*

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 3 49044958 49044958 single base substitution T G 5_prime_UTR_variant BLCA-CN 3 49044958 49044958 single base substitution T G exon_variant BLCA-CN 3 49044958 49044958 single base substitution T G missense_variant L32V 94T>G BLCA-CN 3 49044958 49044958 single base substitution T G missense_variant L62V 184T>G BLCA-CN 3 49044958 49044958 single base substitution T G upstream_gene_variant BLCA-CN 3 49049501 49049501 single base substitution T G 3_prime_UTR_variant BLCA-CN 3 49049501 49049501 single base substitution T G downstream_gene_variant BLCA-CN 3 49049501 49049501 single base substitution T G exon_variant BLCA-CN 3 49049501 49049501 single base substitution T G intron_variant BLCA-CN 3 49049501 49049501 single base substitution T G synonymous_variant G127G 381T>G BLCA-CN 3 49049501 49049501 single base substitution T G synonymous_variant G178G 534T>G BLCA-CN 3 49049501 49049501 single base substitution T G synonymous_variant G208G 624T>G BLCA-CN 3 49049501 49049501 single base substitution T G synonymous_variant G210G 630T>G BLCA-CN 3 49049501 49049501 single base substitution T G upstream_gene_variant BLCA-CN 3 49050076 49050076 single base substitution C T 3_prime_UTR_variant BLCA-CN 3 49050076 49050076 single base substitution C T downstream_gene_variant BLCA-CN 3 49050076 49050076 single base substitution C T exon_variant BLCA-CN 3 49050076 49050076 single base substitution C T intron_variant BLCA-CN 3 49050076 49050076 single base substitution C T missense_variant A319V 956C>T BLCA-CN 3 49050076 49050076 single base substitution C T missense_variant A370V 1109C>T BLCA-CN 3 49050076 49050076 single base substitution C T missense_variant A400V 1199C>T BLCA-CN 3 49050076 49050076 single base substitution C T upstream_gene_variant BLCA-CN 3 49051707 49051707 single base substitution T C 3_prime_UTR_variant BLCA-CN 3 49051707 49051707 single base substitution T C downstream_gene_variant BLCA-CN 3 49051707 49051707 single base substitution T C exon_variant BLCA-CN 3 49051707 49051707 single base substitution T C missense_variant C331R 991T>C BLCA-CN 3 49051707 49051707 single base substitution T C missense_variant C832R 2494T>C BLCA-CN 3 49051707 49051707 single base substitution T C missense_variant C883R 2647T>C BLCA-CN 3 49051707 49051707 single base substitution T C missense_variant C913R 2737T>C BLCA-CN 3 49052438 49052438 single base substitution T G 3_prime_UTR_variant BLCA-CN 3 49052438 49052438 single base substitution T G downstream_gene_variant BLCA-CN 3 49052438 49052438 single base substitution T G exon_variant BLCA-CN 3 49052438 49052438 single base substitution T G missense_variant L1028R 3083T>G BLCA-CN 3 49052438 49052438 single base substitution T G missense_variant L1058R 3173T>G BLCA-CN 3 49052438 49052438 single base substitution T G missense_variant L476R 1427T>G BLCA-CN 3 49052438 49052438 single base substitution T G missense_variant L977R 2930T>G BLCA-CN 3 49055146 49055146 single base substitution C T downstream_gene_variant BLCA-US 3 49039971 49039971 single base substitution G A upstream_gene_variant BLCA-US 3 49040020 49040020 single base substitution G T upstream_gene_variant BLCA-US 3 49043565 49043565 single base substitution C G upstream_gene_variant BLCA-US 3 49044905 49044905 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant BLCA-US 3 49044905 49044905 single base substitution C T exon_variant BLCA-US 3 49044905 49044905 single base substitution C T missense_variant S14L 41C>T BLCA-US 3 49044905 49044905 single base substitution C T missense_variant S44L 131C>T BLCA-US 3 49044905 49044905 single base substitution C T upstream_gene_variant BLCA-US 3 49049462 49049462 single base substitution G A 3_prime_UTR_variant BLCA-US 3 49049462 49049462 single base substitution G A downstream_gene_variant BLCA-US 3 49049462 49049462 single base substitution G A exon_variant BLCA-US 3 49049462 49049462 single base substitution G A intron_variant BLCA-US 3 49049462 49049462 single base substitution G A synonymous_variant L114L 342G>A BLCA-US 3 49049462 49049462 single base substitution G A synonymous_variant L165L 495G>A BLCA-US 3 49049462 49049462 single base substitution G A synonymous_variant L195L 585G>A BLCA-US 3 49049462 49049462 single base substitution G A synonymous_variant L197L 591G>A BLCA-US 3 49049462 49049462 single base substitution G A upstream_gene_variant BLCA-US 3 49050213 49050213 single base substitution C T 3_prime_UTR_variant BLCA-US 3 49050213 49050213 single base substitution C T downstream_gene_variant BLCA-US 3 49050213 49050213 single base substitution C T exon_variant BLCA-US 3 49050213 49050213 single base substitution C T intron_variant BLCA-US 3 49050213 49050213 single base substitution C T missense_variant R365C 1093C>T BLCA-US 3 49050213 49050213 single base substitution C T missense_variant R416C 1246C>T BLCA-US 3 49050213 49050213 single base substitution C T missense_variant R446C 1336C>T BLCA-US 3 49050213 49050213 single base substitution C T upstream_gene_variant BLCA-US 3 49050477 49050477 single base substitution G A 3_prime_UTR_variant BLCA-US 3 49050477 49050477 single base substitution G A downstream_gene_variant BLCA-US 3 49050477 49050477 single base substitution G A exon_variant BLCA-US 3 49050477 49050477 single base substitution G A intron_variant BLCA-US 3 49050477 49050477 single base substitution G A missense_variant D453N 1357G>A BLCA-US 3 49050477 49050477 single base substitution G A missense_variant D504N 1510G>A BLCA-US 3 49050477 49050477 single base substitution G A missense_variant D534N 1600G>A BLCA-US 3 49050477 49050477 single base substitution G A splice_region_variant BLCA-US 3 49050477 49050477 single base substitution G A upstream_gene_variant BLCA-US 3 49051011 49051011 single base substitution T A 3_prime_UTR_variant BLCA-US 3 49051011 49051011 single base substitution T A downstream_gene_variant BLCA-US 3 49051011 49051011 single base substitution T A exon_variant BLCA-US 3 49051011 49051011 single base substitution T A missense_variant Y130N 388T>A BLCA-US 3 49051011 49051011 single base substitution T A missense_variant Y631N 1891T>A BLCA-US 3 49051011 49051011 single base substitution T A missense_variant Y682N 2044T>A BLCA-US 3 49051011 49051011 single base substitution T A missense_variant Y712N 2134T>A BLCA-US 3 49051011 49051011 single base substitution T A upstream_gene_variant BLCA-US 3 49051674 49051674 single base substitution C T 3_prime_UTR_variant BLCA-US 3 49051674 49051674 single base substitution C T downstream_gene_variant BLCA-US 3 49051674 49051674 single base substitution C T exon_variant BLCA-US 3 49051674 49051674 single base substitution C T stop_gained Q320* 958C>T BLCA-US 3 49051674 49051674 single base substitution C T stop_gained Q821* 2461C>T BLCA-US 3 49051674 49051674 single base substitution C T stop_gained Q872* 2614C>T BLCA-US 3 49051674 49051674 single base substitution C T stop_gained Q902* 2704C>T BLCA-US 3 49051677 49051677 single base substitution C T 3_prime_UTR_variant BLCA-US 3 49051677 49051677 single base substitution C T downstream_gene_variant BLCA-US 3 49051677 49051677 single base substitution C T exon_variant BLCA-US 3 49051677 49051677 single base substitution C T missense_variant P321S 961C>T BLCA-US 3 49051677 49051677 single base substitution C T missense_variant P822S 2464C>T BLCA-US 3 49051677 49051677 single base substitution C T missense_variant P873S 2617C>T BLCA-US 3 49051677 49051677 single base substitution C T missense_variant P903S 2707C>T BLCA-US 3 49053759 49053759 single base substitution C G downstream_gene_variant BLCA-US 3 49054900 49054900 single base substitution T C downstream_gene_variant BLCA-US 3 49055271 49055271 single base substitution C T downstream_gene_variant BRCA-EU 3 49040062 49040062 single base substitution G A upstream_gene_variant BRCA-EU 3 49040249 49040249 single base substitution G A upstream_gene_variant BRCA-EU 3 49041387 49041387 single base substitution C G upstream_gene_variant BRCA-EU 3 49041953 49041953 single base substitution T A upstream_gene_variant BRCA-EU 3 49043154 49043154 single base substitution A G upstream_gene_variant BRCA-EU 3 49043643 49043643 deletion of <=200bp G - upstream_gene_variant BRCA-EU 3 49044444 49044444 single base substitution C G upstream_gene_variant BRCA-EU 3 49044785 49044785 single base substitution C T missense_variant A4V 11C>T BRCA-EU 3 49044785 49044785 single base substitution C T upstream_gene_variant BRCA-EU 3 49046377 49046377 single base substitution C G 5_prime_UTR_variant BRCA-EU 3 49046377 49046377 single base substitution C G exon_variant BRCA-EU 3 49046377 49046377 single base substitution C G intron_variant BRCA-EU 3 49046377 49046377 single base substitution C G upstream_gene_variant BRCA-EU 3 49048583 49048583 single base substitution T G intron_variant BRCA-EU 3 49048583 49048583 single base substitution T G upstream_gene_variant BRCA-EU 3 49050719 49050719 single base substitution C T 3_prime_UTR_variant BRCA-EU 3 49050719 49050719 single base substitution C T downstream_gene_variant BRCA-EU 3 49050719 49050719 single base substitution C T exon_variant BRCA-EU 3 49050719 49050719 single base substitution C T intron_variant BRCA-EU 3 49050719 49050719 single base substitution C T splice_region_variant BRCA-EU 3 49050719 49050719 single base substitution C T synonymous_variant T533T 1599C>T BRCA-EU 3 49050719 49050719 single base substitution C T synonymous_variant T584T 1752C>T BRCA-EU 3 49050719 49050719 single base substitution C T synonymous_variant T614T 1842C>T BRCA-EU 3 49050719 49050719 single base substitution C T upstream_gene_variant BRCA-EU 3 49050989 49050989 single base substitution C G 3_prime_UTR_variant BRCA-EU 3 49050989 49050989 single base substitution C G downstream_gene_variant BRCA-EU 3 49050989 49050989 single base substitution C G exon_variant BRCA-EU 3 49050989 49050989 single base substitution C G synonymous_variant L122L 366C>G BRCA-EU 3 49050989 49050989 single base substitution C G synonymous_variant L623L 1869C>G BRCA-EU 3 49050989 49050989 single base substitution C G synonymous_variant L674L 2022C>G BRCA-EU 3 49050989 49050989 single base substitution C G synonymous_variant L704L 2112C>G BRCA-EU 3 49050989 49050989 single base substitution C G upstream_gene_variant BRCA-EU 3 49051341 49051341 single base substitution C T 3_prime_UTR_variant BRCA-EU 3 49051341 49051341 single base substitution C T downstream_gene_variant BRCA-EU 3 49051341 49051341 single base substitution C T exon_variant BRCA-EU 3 49051341 49051341 single base substitution C T stop_gained Q240* 718C>T BRCA-EU 3 49051341 49051341 single base substitution C T stop_gained Q741* 2221C>T BRCA-EU 3 49051341 49051341 single base substitution C T stop_gained Q792* 2374C>T BRCA-EU 3 49051341 49051341 single base substitution C T stop_gained Q822* 2464C>T BRCA-EU 3 49051341 49051341 single base substitution C T upstream_gene_variant BRCA-EU 3 49051940 49051940 single base substitution G T downstream_gene_variant BRCA-EU 3 49051940 49051940 single base substitution G T intron_variant BRCA-EU 3 49051940 49051940 single base substitution G T splice_region_variant BRCA-EU 3 49052888 49052888 single base substitution G T 3_prime_UTR_variant BRCA-EU 3 49052888 49052888 single base substitution G T downstream_gene_variant BRCA-EU 3 49053373 49053373 single base substitution G A 3_prime_UTR_variant BRCA-EU 3 49053373 49053373 single base substitution G A downstream_gene_variant BRCA-EU 3 49053411 49053411 single base substitution C T downstream_gene_variant BRCA-EU 3 49054869 49054869 single base substitution G T downstream_gene_variant BRCA-EU 3 49055631 49055631 single base substitution C G downstream_gene_variant BRCA-FR 3 49044451 49044451 single base substitution C T upstream_gene_variant BRCA-FR 3 49051788 49051788 single base substitution C G downstream_gene_variant BRCA-FR 3 49051788 49051788 single base substitution C G exon_variant BRCA-FR 3 49051788 49051788 single base substitution C G intron_variant BRCA-KR 3 49055970 49055970 single base substitution C A downstream_gene_variant BRCA-UK 3 49042339 49042339 single base substitution C G upstream_gene_variant BRCA-UK 3 49043523 49043523 single base substitution C A upstream_gene_variant BRCA-UK 3 49044287 49044287 single base substitution C T upstream_gene_variant BRCA-UK 3 49046548 49046548 single base substitution C G intron_variant BRCA-UK 3 49046548 49046548 single base substitution C G upstream_gene_variant BRCA-UK 3 49050542 49050542 single base substitution C G 3_prime_UTR_variant BRCA-UK 3 49050542 49050542 single base substitution C G downstream_gene_variant BRCA-UK 3 49050542 49050542 single base substitution C G exon_variant BRCA-UK 3 49050542 49050542 single base substitution C G intron_variant BRCA-UK 3 49050542 49050542 single base substitution C G splice_region_variant BRCA-UK 3 49050542 49050542 single base substitution C G synonymous_variant L474L 1422C>G BRCA-UK 3 49050542 49050542 single base substitution C G synonymous_variant L525L 1575C>G BRCA-UK 3 49050542 49050542 single base substitution C G synonymous_variant L555L 1665C>G BRCA-UK 3 49050542 49050542 single base substitution C G upstream_gene_variant BRCA-UK 3 49050629 49050629 single base substitution C T 3_prime_UTR_variant BRCA-UK 3 49050629 49050629 single base substitution C T downstream_gene_variant BRCA-UK 3 49050629 49050629 single base substitution C T exon_variant BRCA-UK 3 49050629 49050629 single base substitution C T intron_variant BRCA-UK 3 49050629 49050629 single base substitution C T synonymous_variant F503F 1509C>T BRCA-UK 3 49050629 49050629 single base substitution C T synonymous_variant F554F 1662C>T BRCA-UK 3 49050629 49050629 single base substitution C T synonymous_variant F584F 1752C>T BRCA-UK 3 49050629 49050629 single base substitution C T upstream_gene_variant BRCA-UK 3 49051823 49051823 single base substitution C A 3_prime_UTR_variant BRCA-UK 3 49051823 49051823 single base substitution C A downstream_gene_variant BRCA-UK 3 49051823 49051823 single base substitution C A exon_variant BRCA-UK 3 49051823 49051823 single base substitution C A missense_variant L340I 1018C>A BRCA-UK 3 49051823 49051823 single base substitution C A missense_variant L841I 2521C>A BRCA-UK 3 49051823 49051823 single base substitution C A missense_variant L892I 2674C>A BRCA-UK 3 49051823 49051823 single base substitution C A missense_variant L922I 2764C>A BRCA-UK 3 49055844 49055844 single base substitution C G downstream_gene_variant BRCA-US 3 49041556 49041556 single base substitution C T upstream_gene_variant BRCA-US 3 49042366 49042366 single base substitution T G upstream_gene_variant BRCA-US 3 49042459 49042459 single base substitution A C upstream_gene_variant BRCA-US 3 49043192 49043192 insertion of <=200bp - C upstream_gene_variant BRCA-US 3 49044240 49044240 single base substitution T C upstream_gene_variant BRCA-US 3 49049058 49049058 single base substitution C T 3_prime_UTR_variant BRCA-US 3 49049058 49049058 single base substitution C T intron_variant BRCA-US 3 49049058 49049058 single base substitution C T missense_variant L5F 13C>T BRCA-US 3 49049058 49049058 single base substitution C T upstream_gene_variant BRCA-US 3 49049490 49049490 single base substitution A G 3_prime_UTR_variant BRCA-US 3 49049490 49049490 single base substitution A G downstream_gene_variant BRCA-US 3 49049490 49049490 single base substitution A G exon_variant BRCA-US 3 49049490 49049490 single base substitution A G intron_variant BRCA-US 3 49049490 49049490 single base substitution A G missense_variant I124V 370A>G BRCA-US 3 49049490 49049490 single base substitution A G missense_variant I175V 523A>G BRCA-US 3 49049490 49049490 single base substitution A G missense_variant I205V 613A>G BRCA-US 3 49049490 49049490 single base substitution A G missense_variant I207V 619A>G BRCA-US 3 49049490 49049490 single base substitution A G upstream_gene_variant BRCA-US 3 49049680 49049680 single base substitution T G 3_prime_UTR_variant BRCA-US 3 49049680 49049680 single base substitution T G downstream_gene_variant BRCA-US 3 49049680 49049680 single base substitution T G exon_variant BRCA-US 3 49049680 49049680 single base substitution T G intron_variant BRCA-US 3 49049680 49049680 single base substitution T G missense_variant V187G 560T>G BRCA-US 3 49049680 49049680 single base substitution T G missense_variant V238G 713T>G BRCA-US 3 49049680 49049680 single base substitution T G missense_variant V268G 803T>G BRCA-US 3 49049680 49049680 single base substitution T G missense_variant V270G 809T>G BRCA-US 3 49049680 49049680 single base substitution T G upstream_gene_variant BRCA-US 3 49049714 49049714 single base substitution G A 3_prime_UTR_variant BRCA-US 3 49049714 49049714 single base substitution G A downstream_gene_variant BRCA-US 3 49049714 49049714 single base substitution G A exon_variant BRCA-US 3 49049714 49049714 single base substitution G A intron_variant BRCA-US 3 49049714 49049714 single base substitution G A synonymous_variant Q198Q 594G>A BRCA-US 3 49049714 49049714 single base substitution G A synonymous_variant Q249Q 747G>A BRCA-US 3 49049714 49049714 single base substitution G A synonymous_variant Q279Q 837G>A BRCA-US 3 49049714 49049714 single base substitution G A upstream_gene_variant BRCA-US 3 49050384 49050384 single base substitution G C 3_prime_UTR_variant BRCA-US 3 49050384 49050384 single base substitution G C downstream_gene_variant BRCA-US 3 49050384 49050384 single base substitution G C exon_variant BRCA-US 3 49050384 49050384 single base substitution G C intron_variant BRCA-US 3 49050384 49050384 single base substitution G C missense_variant G422R 1264G>C BRCA-US 3 49050384 49050384 single base substitution G C missense_variant G473R 1417G>C BRCA-US 3 49050384 49050384 single base substitution G C missense_variant G503R 1507G>C BRCA-US 3 49050384 49050384 single base substitution G C upstream_gene_variant BRCA-US 3 49050454 49050454 single base substitution G A 3_prime_UTR_variant BRCA-US 3 49050454 49050454 single base substitution G A downstream_gene_variant BRCA-US 3 49050454 49050454 single base substitution G A exon_variant BRCA-US 3 49050454 49050454 single base substitution G A intron_variant BRCA-US 3 49050454 49050454 single base substitution G A missense_variant C445Y 1334G>A BRCA-US 3 49050454 49050454 single base substitution G A missense_variant C496Y 1487G>A BRCA-US 3 49050454 49050454 single base substitution G A missense_variant C526Y 1577G>A BRCA-US 3 49050454 49050454 single base substitution G A upstream_gene_variant BRCA-US 3 49050455 49050455 single base substitution C T 3_prime_UTR_variant BRCA-US 3 49050455 49050455 single base substitution C T downstream_gene_variant BRCA-US 3 49050455 49050455 single base substitution C T exon_variant BRCA-US 3 49050455 49050455 single base substitution C T intron_variant BRCA-US 3 49050455 49050455 single base substitution C T synonymous_variant C445C 1335C>T BRCA-US 3 49050455 49050455 single base substitution C T synonymous_variant C496C 1488C>T BRCA-US 3 49050455 49050455 single base substitution C T synonymous_variant C526C 1578C>T BRCA-US 3 49050455 49050455 single base substitution C T upstream_gene_variant BRCA-US 3 49051381 49051381 insertion of <=200bp - G 3_prime_UTR_variant BRCA-US 3 49051381 49051381 insertion of <=200bp - G downstream_gene_variant BRCA-US 3 49051381 49051381 insertion of <=200bp - G exon_variant BRCA-US 3 49051381 49051381 insertion of <=200bp - G frameshift_variant A253G? BRCA-US 3 49051381 49051381 insertion of <=200bp - G frameshift_variant A754G? BRCA-US 3 49051381 49051381 insertion of <=200bp - G frameshift_variant A805G? BRCA-US 3 49051381 49051381 insertion of <=200bp - G frameshift_variant A835G? BRCA-US 3 49051381 49051381 insertion of <=200bp - G upstream_gene_variant BRCA-US 3 49051823 49051823 single base substitution C G 3_prime_UTR_variant BRCA-US 3 49051823 49051823 single base substitution C G downstream_gene_variant BRCA-US 3 49051823 49051823 single base substitution C G exon_variant BRCA-US 3 49051823 49051823 single base substitution C G missense_variant L340V 1018C>G BRCA-US 3 49051823 49051823 single base substitution C G missense_variant L841V 2521C>G BRCA-US 3 49051823 49051823 single base substitution C G missense_variant L892V 2674C>G BRCA-US 3 49051823 49051823 single base substitution C G missense_variant L922V 2764C>G BRCA-US 3 49052659 49052659 single base substitution G C 3_prime_UTR_variant BRCA-US 3 49052659 49052659 single base substitution G C downstream_gene_variant BRCA-US 3 49052659 49052659 single base substitution G C exon_variant BRCA-US 3 49052659 49052659 single base substitution G C missense_variant E1051Q 3151G>C BRCA-US 3 49052659 49052659 single base substitution G C missense_variant E1102Q 3304G>C BRCA-US 3 49052659 49052659 single base substitution G C missense_variant E1132Q 3394G>C BRCA-US 3 49052659 49052659 single base substitution G C missense_variant E550Q 1648G>C BRCA-US 3 49053306 49053306 single base substitution C T 3_prime_UTR_variant BRCA-US 3 49053306 49053306 single base substitution C T downstream_gene_variant BRCA-US 3 49053683 49053684 deletion of <=200bp GT - downstream_gene_variant BRCA-US 3 49053734 49053734 single base substitution C A downstream_gene_variant BRCA-US 3 49053757 49053757 single base substitution G C downstream_gene_variant BRCA-US 3 49054878 49054878 single base substitution G A downstream_gene_variant BRCA-US 3 49055154 49055154 single base substitution C A downstream_gene_variant BRCA-US 3 49055212 49055212 single base substitution C G downstream_gene_variant BRCA-US 3 49055227 49055227 deletion of <=200bp C - downstream_gene_variant BRCA-US 3 49055971 49055971 single base substitution C T downstream_gene_variant BTCA-JP 3 49039954 49039954 single base substitution G C upstream_gene_variant BTCA-JP 3 49042754 49042754 single base substitution G A upstream_gene_variant BTCA-JP 3 49043498 49043498 single base substitution G A upstream_gene_variant BTCA-JP 3 49043643 49043643 deletion of <=200bp G - upstream_gene_variant BTCA-JP 3 49044811 49044811 single base substitution C T 5_prime_UTR_variant BTCA-JP 3 49044811 49044811 single base substitution C T stop_gained R13* 37C>T BTCA-JP 3 49044811 49044811 single base substitution C T upstream_gene_variant BTCA-JP 3 49049894 49049894 single base substitution G A 3_prime_UTR_variant BTCA-JP 3 49049894 49049894 single base substitution G A downstream_gene_variant BTCA-JP 3 49049894 49049894 single base substitution G A exon_variant BTCA-JP 3 49049894 49049894 single base substitution G A intron_variant BTCA-JP 3 49049894 49049894 single base substitution G A synonymous_variant R258R 774G>A BTCA-JP 3 49049894 49049894 single base substitution G A synonymous_variant R309R 927G>A BTCA-JP 3 49049894 49049894 single base substitution G A synonymous_variant R339R 1017G>A BTCA-JP 3 49049894 49049894 single base substitution G A upstream_gene_variant BTCA-JP 3 49050183 49050183 single base substitution G A 3_prime_UTR_variant BTCA-JP 3 49050183 49050183 single base substitution G A downstream_gene_variant BTCA-JP 3 49050183 49050183 single base substitution G A exon_variant BTCA-JP 3 49050183 49050183 single base substitution G A intron_variant BTCA-JP 3 49050183 49050183 single base substitution G A missense_variant G355R 1063G>A BTCA-JP 3 49050183 49050183 single base substitution G A missense_variant G406R 1216G>A BTCA-JP 3 49050183 49050183 single base substitution G A missense_variant G436R 1306G>A BTCA-JP 3 49050183 49050183 single base substitution G A upstream_gene_variant BTCA-JP 3 49050363 49050363 single base substitution G C 3_prime_UTR_variant BTCA-JP 3 49050363 49050363 single base substitution G C downstream_gene_variant BTCA-JP 3 49050363 49050363 single base substitution G C exon_variant BTCA-JP 3 49050363 49050363 single base substitution G C intron_variant BTCA-JP 3 49050363 49050363 single base substitution G C missense_variant E415Q 1243G>C BTCA-JP 3 49050363 49050363 single base substitution G C missense_variant E466Q 1396G>C BTCA-JP 3 49050363 49050363 single base substitution G C missense_variant E496Q 1486G>C BTCA-JP 3 49050363 49050363 single base substitution G C upstream_gene_variant BTCA-JP 3 49053218 49053218 single base substitution C T 3_prime_UTR_variant BTCA-JP 3 49053218 49053218 single base substitution C T downstream_gene_variant BTCA-JP 3 49053784 49053784 single base substitution G C downstream_gene_variant BTCA-JP 3 49056005 49056005 single base substitution G T downstream_gene_variant CESC-US 3 49044174 49044174 single base substitution G A upstream_gene_variant CESC-US 3 49044293 49044293 single base substitution G A upstream_gene_variant CESC-US 3 49048913 49048913 single base substitution G A 5_prime_UTR_variant CESC-US 3 49048913 49048913 single base substitution G A exon_variant CESC-US 3 49048913 49048913 single base substitution G A intron_variant CESC-US 3 49048913 49048913 single base substitution G A missense_variant E54K 160G>A CESC-US 3 49048913 49048913 single base substitution G A upstream_gene_variant CESC-US 3 49049120 49049120 single base substitution G C 3_prime_UTR_variant CESC-US 3 49049120 49049120 single base substitution G C 5_prime_UTR_variant CESC-US 3 49049120 49049120 single base substitution G C exon_variant CESC-US 3 49049120 49049120 single base substitution G C intron_variant CESC-US 3 49049120 49049120 single base substitution G C synonymous_variant R25R 75G>C CESC-US 3 49049120 49049120 single base substitution G C synonymous_variant R51R 153G>C CESC-US 3 49049120 49049120 single base substitution G C synonymous_variant R81R 243G>C CESC-US 3 49049120 49049120 single base substitution G C synonymous_variant R83R 249G>C CESC-US 3 49049120 49049120 single base substitution G C upstream_gene_variant CESC-US 3 49049138 49049138 single base substitution G A 3_prime_UTR_variant CESC-US 3 49049138 49049138 single base substitution G A exon_variant CESC-US 3 49049138 49049138 single base substitution G A intron_variant CESC-US 3 49049138 49049138 single base substitution G A synonymous_variant Q31Q 93G>A CESC-US 3 49049138 49049138 single base substitution G A synonymous_variant Q57Q 171G>A CESC-US 3 49049138 49049138 single base substitution G A synonymous_variant Q6Q 18G>A CESC-US 3 49049138 49049138 single base substitution G A synonymous_variant Q87Q 261G>A CESC-US 3 49049138 49049138 single base substitution G A synonymous_variant Q89Q 267G>A CESC-US 3 49049138 49049138 single base substitution G A upstream_gene_variant CESC-US 3 49049208 49049208 single base substitution G C 3_prime_UTR_variant CESC-US 3 49049208 49049208 single base substitution G C downstream_gene_variant CESC-US 3 49049208 49049208 single base substitution G C exon_variant CESC-US 3 49049208 49049208 single base substitution G C intron_variant CESC-US 3 49049208 49049208 single base substitution G C missense_variant E111Q 331G>C CESC-US 3 49049208 49049208 single base substitution G C missense_variant E113Q 337G>C CESC-US 3 49049208 49049208 single base substitution G C missense_variant E30Q 88G>C CESC-US 3 49049208 49049208 single base substitution G C missense_variant E55Q 163G>C CESC-US 3 49049208 49049208 single base substitution G C missense_variant E81Q 241G>C CESC-US 3 49049208 49049208 single base substitution G C upstream_gene_variant CESC-US 3 49049889 49049889 single base substitution G A 3_prime_UTR_variant CESC-US 3 49049889 49049889 single base substitution G A downstream_gene_variant CESC-US 3 49049889 49049889 single base substitution G A exon_variant CESC-US 3 49049889 49049889 single base substitution G A intron_variant CESC-US 3 49049889 49049889 single base substitution G A missense_variant E257K 769G>A CESC-US 3 49049889 49049889 single base substitution G A missense_variant E308K 922G>A CESC-US 3 49049889 49049889 single base substitution G A missense_variant E338K 1012G>A CESC-US 3 49049889 49049889 single base substitution G A upstream_gene_variant CESC-US 3 49049891 49049891 single base substitution G A 3_prime_UTR_variant CESC-US 3 49049891 49049891 single base substitution G A downstream_gene_variant CESC-US 3 49049891 49049891 single base substitution G A exon_variant CESC-US 3 49049891 49049891 single base substitution G A intron_variant CESC-US 3 49049891 49049891 single base substitution G A synonymous_variant E257E 771G>A CESC-US 3 49049891 49049891 single base substitution G A synonymous_variant E308E 924G>A CESC-US 3 49049891 49049891 single base substitution G A synonymous_variant E338E 1014G>A CESC-US 3 49049891 49049891 single base substitution G A upstream_gene_variant CESC-US 3 49049972 49049972 single base substitution G A 3_prime_UTR_variant CESC-US 3 49049972 49049972 single base substitution G A downstream_gene_variant CESC-US 3 49049972 49049972 single base substitution G A exon_variant CESC-US 3 49049972 49049972 single base substitution G A intron_variant CESC-US 3 49049972 49049972 single base substitution G A synonymous_variant L284L 852G>A CESC-US 3 49049972 49049972 single base substitution G A synonymous_variant L335L 1005G>A CESC-US 3 49049972 49049972 single base substitution G A synonymous_variant L365L 1095G>A CESC-US 3 49049972 49049972 single base substitution G A upstream_gene_variant CESC-US 3 49050363 49050363 single base substitution G C 3_prime_UTR_variant CESC-US 3 49050363 49050363 single base substitution G C downstream_gene_variant CESC-US 3 49050363 49050363 single base substitution G C exon_variant CESC-US 3 49050363 49050363 single base substitution G C intron_variant CESC-US 3 49050363 49050363 single base substitution G C missense_variant E415Q 1243G>C CESC-US 3 49050363 49050363 single base substitution G C missense_variant E466Q 1396G>C CESC-US 3 49050363 49050363 single base substitution G C missense_variant E496Q 1486G>C CESC-US 3 49050363 49050363 single base substitution G C upstream_gene_variant CESC-US 3 49050409 49050409 single base substitution G A 3_prime_UTR_variant CESC-US 3 49050409 49050409 single base substitution G A downstream_gene_variant CESC-US 3 49050409 49050409 single base substitution G A exon_variant CESC-US 3 49050409 49050409 single base substitution G A intron_variant CESC-US 3 49050409 49050409 single base substitution G A missense_variant R430H 1289G>A CESC-US 3 49050409 49050409 single base substitution G A missense_variant R481H 1442G>A CESC-US 3 49050409 49050409 single base substitution G A missense_variant R511H 1532G>A CESC-US 3 49050409 49050409 single base substitution G A upstream_gene_variant CESC-US 3 49051433 49051433 single base substitution C T 3_prime_UTR_variant CESC-US 3 49051433 49051433 single base substitution C T downstream_gene_variant CESC-US 3 49051433 49051433 single base substitution C T exon_variant CESC-US 3 49051433 49051433 single base substitution C T synonymous_variant P270P 810C>T CESC-US 3 49051433 49051433 single base substitution C T synonymous_variant P771P 2313C>T CESC-US 3 49051433 49051433 single base substitution C T synonymous_variant P822P 2466C>T CESC-US 3 49051433 49051433 single base substitution C T synonymous_variant P852P 2556C>T CESC-US 3 49051433 49051433 single base substitution C T upstream_gene_variant CESC-US 3 49051891 49051891 single base substitution C G 3_prime_UTR_variant CESC-US 3 49051891 49051891 single base substitution C G downstream_gene_variant CESC-US 3 49051891 49051891 single base substitution C G exon_variant CESC-US 3 49051891 49051891 single base substitution C G synonymous_variant L362L 1086C>G CESC-US 3 49051891 49051891 single base substitution C G synonymous_variant L863L 2589C>G CESC-US 3 49051891 49051891 single base substitution C G synonymous_variant L914L 2742C>G CESC-US 3 49051891 49051891 single base substitution C G synonymous_variant L944L 2832C>G CESC-US 3 49052061 49052061 single base substitution G A 3_prime_UTR_variant CESC-US 3 49052061 49052061 single base substitution G A downstream_gene_variant CESC-US 3 49052061 49052061 single base substitution G A exon_variant CESC-US 3 49052061 49052061 single base substitution G A missense_variant D386N 1156G>A CESC-US 3 49052061 49052061 single base substitution G A missense_variant D887N 2659G>A CESC-US 3 49052061 49052061 single base substitution G A missense_variant D938N 2812G>A CESC-US 3 49052061 49052061 single base substitution G A missense_variant D968N 2902G>A CESC-US 3 49053403 49053403 single base substitution C A downstream_gene_variant CESC-US 3 49053409 49053409 single base substitution C T downstream_gene_variant CESC-US 3 49054257 49054257 single base substitution C T downstream_gene_variant CESC-US 3 49054734 49054734 single base substitution C G downstream_gene_variant CESC-US 3 49054887 49054887 single base substitution C G downstream_gene_variant CESC-US 3 49055216 49055216 single base substitution G A downstream_gene_variant CESC-US 3 49057611 49057611 single base substitution G A downstream_gene_variant COAD-US 3 49044174 49044174 single base substitution G A upstream_gene_variant COAD-US 3 49049079 49049079 single base substitution G A 3_prime_UTR_variant COAD-US 3 49049079 49049079 single base substitution G A 5_prime_UTR_variant COAD-US 3 49049079 49049079 single base substitution G A exon_variant COAD-US 3 49049079 49049079 single base substitution G A intron_variant COAD-US 3 49049079 49049079 single base substitution G A missense_variant D12N 34G>A COAD-US 3 49049079 49049079 single base substitution G A missense_variant D38N 112G>A COAD-US 3 49049079 49049079 single base substitution G A missense_variant D68N 202G>A COAD-US 3 49049079 49049079 single base substitution G A missense_variant D70N 208G>A COAD-US 3 49049079 49049079 single base substitution G A upstream_gene_variant COAD-US 3 49049641 49049641 single base substitution C T 3_prime_UTR_variant COAD-US 3 49049641 49049641 single base substitution C T downstream_gene_variant COAD-US 3 49049641 49049641 single base substitution C T exon_variant COAD-US 3 49049641 49049641 single base substitution C T intron_variant COAD-US 3 49049641 49049641 single base substitution C T missense_variant A174V 521C>T COAD-US 3 49049641 49049641 single base substitution C T missense_variant A225V 674C>T COAD-US 3 49049641 49049641 single base substitution C T missense_variant A255V 764C>T COAD-US 3 49049641 49049641 single base substitution C T missense_variant A257V 770C>T COAD-US 3 49049641 49049641 single base substitution C T upstream_gene_variant COAD-US 3 49050626 49050626 single base substitution T C 3_prime_UTR_variant COAD-US 3 49050626 49050626 single base substitution T C downstream_gene_variant COAD-US 3 49050626 49050626 single base substitution T C exon_variant COAD-US 3 49050626 49050626 single base substitution T C intron_variant COAD-US 3 49050626 49050626 single base substitution T C synonymous_variant A502A 1506T>C COAD-US 3 49050626 49050626 single base substitution T C synonymous_variant A553A 1659T>C COAD-US 3 49050626 49050626 single base substitution T C synonymous_variant A583A 1749T>C COAD-US 3 49050626 49050626 single base substitution T C upstream_gene_variant COAD-US 3 49050892 49050892 single base substitution C A 3_prime_UTR_variant COAD-US 3 49050892 49050892 single base substitution C A downstream_gene_variant COAD-US 3 49050892 49050892 single base substitution C A exon_variant COAD-US 3 49050892 49050892 single base substitution C A missense_variant P591H 1772C>A COAD-US 3 49050892 49050892 single base substitution C A missense_variant P642H 1925C>A COAD-US 3 49050892 49050892 single base substitution C A missense_variant P672H 2015C>A COAD-US 3 49050892 49050892 single base substitution C A missense_variant P90H 269C>A COAD-US 3 49050892 49050892 single base substitution C A upstream_gene_variant COAD-US 3 49051179 49051179 single base substitution G A 3_prime_UTR_variant COAD-US 3 49051179 49051179 single base substitution G A downstream_gene_variant COAD-US 3 49051179 49051179 single base substitution G A exon_variant COAD-US 3 49051179 49051179 single base substitution G A missense_variant D186N 556G>A COAD-US 3 49051179 49051179 single base substitution G A missense_variant D687N 2059G>A COAD-US 3 49051179 49051179 single base substitution G A missense_variant D738N 2212G>A COAD-US 3 49051179 49051179 single base substitution G A missense_variant D768N 2302G>A COAD-US 3 49051179 49051179 single base substitution G A upstream_gene_variant COAD-US 3 49051280 49051280 single base substitution T C 3_prime_UTR_variant COAD-US 3 49051280 49051280 single base substitution T C downstream_gene_variant COAD-US 3 49051280 49051280 single base substitution T C exon_variant COAD-US 3 49051280 49051280 single base substitution T C synonymous_variant C219C 657T>C COAD-US 3 49051280 49051280 single base substitution T C synonymous_variant C720C 2160T>C COAD-US 3 49051280 49051280 single base substitution T C synonymous_variant C771C 2313T>C COAD-US 3 49051280 49051280 single base substitution T C synonymous_variant C801C 2403T>C COAD-US 3 49051280 49051280 single base substitution T C upstream_gene_variant COAD-US 3 49051382 49051382 deletion of <=200bp G - 3_prime_UTR_variant COAD-US 3 49051382 49051382 deletion of <=200bp G - downstream_gene_variant COAD-US 3 49051382 49051382 deletion of <=200bp G - exon_variant COAD-US 3 49051382 49051382 deletion of <=200bp G - frameshift_variant A253 COAD-US 3 49051382 49051382 deletion of <=200bp G - frameshift_variant A754 COAD-US 3 49051382 49051382 deletion of <=200bp G - frameshift_variant A805 COAD-US 3 49051382 49051382 deletion of <=200bp G - frameshift_variant A835 COAD-US 3 49051382 49051382 deletion of <=200bp G - upstream_gene_variant COAD-US 3 49051482 49051482 single base substitution C T 3_prime_UTR_variant COAD-US 3 49051482 49051482 single base substitution C T downstream_gene_variant COAD-US 3 49051482 49051482 single base substitution C T exon_variant COAD-US 3 49051482 49051482 single base substitution C T missense_variant R287W 859C>T COAD-US 3 49051482 49051482 single base substitution C T missense_variant R788W 2362C>T COAD-US 3 49051482 49051482 single base substitution C T missense_variant R839W 2515C>T COAD-US 3 49051482 49051482 single base substitution C T missense_variant R869W 2605C>T COAD-US 3 49051482 49051482 single base substitution C T upstream_gene_variant COAD-US 3 49052306 49052306 single base substitution A C 3_prime_UTR_variant COAD-US 3 49052306 49052306 single base substitution A C downstream_gene_variant COAD-US 3 49052306 49052306 single base substitution A C exon_variant COAD-US 3 49052306 49052306 single base substitution A C missense_variant N1014T 3041A>C COAD-US 3 49052306 49052306 single base substitution A C missense_variant N432T 1295A>C COAD-US 3 49052306 49052306 single base substitution A C missense_variant N933T 2798A>C COAD-US 3 49052306 49052306 single base substitution A C missense_variant N984T 2951A>C COCA-CN 3 49040004 49040004 single base substitution G A upstream_gene_variant COCA-CN 3 49049208 49049208 single base substitution G T 3_prime_UTR_variant COCA-CN 3 49049208 49049208 single base substitution G T downstream_gene_variant COCA-CN 3 49049208 49049208 single base substitution G T exon_variant COCA-CN 3 49049208 49049208 single base substitution G T intron_variant COCA-CN 3 49049208 49049208 single base substitution G T stop_gained E111* 331G>T COCA-CN 3 49049208 49049208 single base substitution G T stop_gained E113* 337G>T COCA-CN 3 49049208 49049208 single base substitution G T stop_gained E30* 88G>T COCA-CN 3 49049208 49049208 single base substitution G T stop_gained E55* 163G>T COCA-CN 3 49049208 49049208 single base substitution G T stop_gained E81* 241G>T COCA-CN 3 49049208 49049208 single base substitution G T upstream_gene_variant COCA-CN 3 49049631 49049631 single base substitution G T 3_prime_UTR_variant COCA-CN 3 49049631 49049631 single base substitution G T downstream_gene_variant COCA-CN 3 49049631 49049631 single base substitution G T exon_variant COCA-CN 3 49049631 49049631 single base substitution G T intron_variant COCA-CN 3 49049631 49049631 single base substitution G T stop_gained G171* 511G>T COCA-CN 3 49049631 49049631 single base substitution G T stop_gained G222* 664G>T COCA-CN 3 49049631 49049631 single base substitution G T stop_gained G252* 754G>T COCA-CN 3 49049631 49049631 single base substitution G T stop_gained G254* 760G>T COCA-CN 3 49049631 49049631 single base substitution G T upstream_gene_variant COCA-CN 3 49049771 49049771 single base substitution G T 3_prime_UTR_variant COCA-CN 3 49049771 49049771 single base substitution G T downstream_gene_variant COCA-CN 3 49049771 49049771 single base substitution G T exon_variant COCA-CN 3 49049771 49049771 single base substitution G T intron_variant COCA-CN 3 49049771 49049771 single base substitution G T missense_variant E217D 651G>T COCA-CN 3 49049771 49049771 single base substitution G T missense_variant E268D 804G>T COCA-CN 3 49049771 49049771 single base substitution G T missense_variant E298D 894G>T COCA-CN 3 49049771 49049771 single base substitution G T upstream_gene_variant COCA-CN 3 49051308 49051308 single base substitution G A 3_prime_UTR_variant COCA-CN 3 49051308 49051308 single base substitution G A downstream_gene_variant COCA-CN 3 49051308 49051308 single base substitution G A exon_variant COCA-CN 3 49051308 49051308 single base substitution G A missense_variant A229T 685G>A COCA-CN 3 49051308 49051308 single base substitution G A missense_variant A730T 2188G>A COCA-CN 3 49051308 49051308 single base substitution G A missense_variant A781T 2341G>A COCA-CN 3 49051308 49051308 single base substitution G A missense_variant A811T 2431G>A COCA-CN 3 49051308 49051308 single base substitution G A upstream_gene_variant COCA-CN 3 49051452 49051452 single base substitution G A 3_prime_UTR_variant COCA-CN 3 49051452 49051452 single base substitution G A downstream_gene_variant COCA-CN 3 49051452 49051452 single base substitution G A exon_variant COCA-CN 3 49051452 49051452 single base substitution G A missense_variant A277T 829G>A COCA-CN 3 49051452 49051452 single base substitution G A missense_variant A778T 2332G>A COCA-CN 3 49051452 49051452 single base substitution G A missense_variant A829T 2485G>A COCA-CN 3 49051452 49051452 single base substitution G A missense_variant A859T 2575G>A COCA-CN 3 49051452 49051452 single base substitution G A upstream_gene_variant COCA-CN 3 49055788 49055788 single base substitution G T downstream_gene_variant COCA-CN 3 49056030 49056030 single base substitution A C downstream_gene_variant COCA-CN 3 49058105 49058105 single base substitution C T downstream_gene_variant ESAD-UK 3 49043556 49043556 single base substitution C T upstream_gene_variant ESAD-UK 3 49043781 49043781 single base substitution C T upstream_gene_variant ESAD-UK 3 49044530 49044530 insertion of <=200bp - A 5_prime_UTR_variant ESAD-UK 3 49044530 49044530 insertion of <=200bp - A upstream_gene_variant ESAD-UK 3 49045716 49045724 deletion of <=200bp ACAGTCATT - 5_prime_UTR_variant ESAD-UK 3 49045716 49045724 deletion of <=200bp ACAGTCATT - intron_variant ESAD-UK 3 49046984 49046984 single base substitution C A intron_variant ESAD-UK 3 49046984 49046984 single base substitution C A upstream_gene_variant ESAD-UK 3 49054102 49054102 single base substitution G A downstream_gene_variant ESCA-CN 3 49041553 49041553 single base substitution C T upstream_gene_variant ESCA-CN 3 49042344 49042344 single base substitution C T upstream_gene_variant ESCA-CN 3 49049987 49049987 single base substitution C T 3_prime_UTR_variant ESCA-CN 3 49049987 49049987 single base substitution C T downstream_gene_variant ESCA-CN 3 49049987 49049987 single base substitution C T exon_variant ESCA-CN 3 49049987 49049987 single base substitution C T intron_variant ESCA-CN 3 49049987 49049987 single base substitution C T synonymous_variant L289L 867C>T ESCA-CN 3 49049987 49049987 single base substitution C T synonymous_variant L340L 1020C>T ESCA-CN 3 49049987 49049987 single base substitution C T synonymous_variant L370L 1110C>T ESCA-CN 3 49049987 49049987 single base substitution C T upstream_gene_variant ESCA-CN 3 49050114 49050114 single base substitution C T 3_prime_UTR_variant ESCA-CN 3 49050114 49050114 single base substitution C T downstream_gene_variant ESCA-CN 3 49050114 49050114 single base substitution C T exon_variant ESCA-CN 3 49050114 49050114 single base substitution C T intron_variant ESCA-CN 3 49050114 49050114 single base substitution C T stop_gained Q332* 994C>T ESCA-CN 3 49050114 49050114 single base substitution C T stop_gained Q383* 1147C>T ESCA-CN 3 49050114 49050114 single base substitution C T stop_gained Q413* 1237C>T ESCA-CN 3 49050114 49050114 single base substitution C T upstream_gene_variant GBM-US 3 49042445 49042445 single base substitution G A upstream_gene_variant GBM-US 3 49043241 49043241 single base substitution G A upstream_gene_variant KIRP-US 3 49055671 49055671 deletion of <=200bp G - downstream_gene_variant LAML-KR 3 49048548 49048548 single base substitution G T intron_variant LAML-KR 3 49048548 49048548 single base substitution G T upstream_gene_variant LAML-KR 3 49048842 49048842 single base substitution C T intron_variant LAML-KR 3 49048842 49048842 single base substitution C T upstream_gene_variant LGG-US 3 49049692 49049692 single base substitution G A 3_prime_UTR_variant LGG-US 3 49049692 49049692 single base substitution G A downstream_gene_variant LGG-US 3 49049692 49049692 single base substitution G A exon_variant LGG-US 3 49049692 49049692 single base substitution G A intron_variant LGG-US 3 49049692 49049692 single base substitution G A missense_variant R191Q 572G>A LGG-US 3 49049692 49049692 single base substitution G A missense_variant R242Q 725G>A LGG-US 3 49049692 49049692 single base substitution G A missense_variant R272Q 815G>A LGG-US 3 49049692 49049692 single base substitution G A upstream_gene_variant LICA-CN 3 49049092 49049092 single base substitution A G 3_prime_UTR_variant LICA-CN 3 49049092 49049092 single base substitution A G 5_prime_UTR_variant LICA-CN 3 49049092 49049092 single base substitution A G exon_variant LICA-CN 3 49049092 49049092 single base substitution A G intron_variant LICA-CN 3 49049092 49049092 single base substitution A G missense_variant Y16C 47A>G LICA-CN 3 49049092 49049092 single base substitution A G missense_variant Y42C 125A>G LICA-CN 3 49049092 49049092 single base substitution A G missense_variant Y72C 215A>G LICA-CN 3 49049092 49049092 single base substitution A G missense_variant Y74C 221A>G LICA-CN 3 49049092 49049092 single base substitution A G upstream_gene_variant LICA-FR 3 49049916 49049916 single base substitution G T 3_prime_UTR_variant LICA-FR 3 49049916 49049916 single base substitution G T downstream_gene_variant LICA-FR 3 49049916 49049916 single base substitution G T exon_variant LICA-FR 3 49049916 49049916 single base substitution G T intron_variant LICA-FR 3 49049916 49049916 single base substitution G T missense_variant G266C 796G>T LICA-FR 3 49049916 49049916 single base substitution G T missense_variant G317C 949G>T LICA-FR 3 49049916 49049916 single base substitution G T missense_variant G347C 1039G>T LICA-FR 3 49049916 49049916 single base substitution G T upstream_gene_variant LICA-FR 3 49050111 49050111 single base substitution G A 3_prime_UTR_variant LICA-FR 3 49050111 49050111 single base substitution G A downstream_gene_variant LICA-FR 3 49050111 49050111 single base substitution G A exon_variant LICA-FR 3 49050111 49050111 single base substitution G A intron_variant LICA-FR 3 49050111 49050111 single base substitution G A missense_variant E331K 991G>A LICA-FR 3 49050111 49050111 single base substitution G A missense_variant E382K 1144G>A LICA-FR 3 49050111 49050111 single base substitution G A missense_variant E412K 1234G>A LICA-FR 3 49050111 49050111 single base substitution G A upstream_gene_variant LICA-FR 3 49051475 49051475 single base substitution G T 3_prime_UTR_variant LICA-FR 3 49051475 49051475 single base substitution G T downstream_gene_variant LICA-FR 3 49051475 49051475 single base substitution G T exon_variant LICA-FR 3 49051475 49051475 single base substitution G T synonymous_variant S284S 852G>T LICA-FR 3 49051475 49051475 single base substitution G T synonymous_variant S785S 2355G>T LICA-FR 3 49051475 49051475 single base substitution G T synonymous_variant S836S 2508G>T LICA-FR 3 49051475 49051475 single base substitution G T synonymous_variant S866S 2598G>T LICA-FR 3 49051475 49051475 single base substitution G T upstream_gene_variant LICA-FR 3 49052449 49052449 single base substitution C A 3_prime_UTR_variant LICA-FR 3 49052449 49052449 single base substitution C A downstream_gene_variant LICA-FR 3 49052449 49052449 single base substitution C A exon_variant LICA-FR 3 49052449 49052449 single base substitution C A missense_variant L1032M 3094C>A LICA-FR 3 49052449 49052449 single base substitution C A missense_variant L1062M 3184C>A LICA-FR 3 49052449 49052449 single base substitution C A missense_variant L480M 1438C>A LICA-FR 3 49052449 49052449 single base substitution C A missense_variant L981M 2941C>A LICA-FR 3 49055279 49055279 single base substitution G A downstream_gene_variant LIHC-US 3 49053492 49053492 single base substitution T C downstream_gene_variant LIHC-US 3 49057609 49057609 single base substitution C T downstream_gene_variant LINC-JP 3 49042455 49042455 single base substitution C T upstream_gene_variant LINC-JP 3 49043962 49043962 single base substitution A G upstream_gene_variant LINC-JP 3 49050195 49050195 single base substitution A G 3_prime_UTR_variant LINC-JP 3 49050195 49050195 single base substitution A G downstream_gene_variant LINC-JP 3 49050195 49050195 single base substitution A G exon_variant LINC-JP 3 49050195 49050195 single base substitution A G intron_variant LINC-JP 3 49050195 49050195 single base substitution A G missense_variant M359V 1075A>G LINC-JP 3 49050195 49050195 single base substitution A G missense_variant M410V 1228A>G LINC-JP 3 49050195 49050195 single base substitution A G missense_variant M440V 1318A>G LINC-JP 3 49050195 49050195 single base substitution A G upstream_gene_variant LINC-JP 3 49051735 49051735 single base substitution A G downstream_gene_variant LINC-JP 3 49051735 49051735 single base substitution A G exon_variant LINC-JP 3 49051735 49051735 single base substitution A G intron_variant LINC-JP 3 49052923 49052923 single base substitution T C 3_prime_UTR_variant LINC-JP 3 49052923 49052923 single base substitution T C downstream_gene_variant LINC-JP 3 49053341 49053341 single base substitution T C 3_prime_UTR_variant LINC-JP 3 49053341 49053341 single base substitution T C downstream_gene_variant LINC-JP 3 49053426 49053426 single base substitution T C downstream_gene_variant LINC-JP 3 49053447 49053447 single base substitution A C downstream_gene_variant LINC-JP 3 49055696 49055696 single base substitution G A downstream_gene_variant LIRI-JP 3 49046501 49046501 single base substitution G A intron_variant LIRI-JP 3 49046501 49046501 single base substitution G A upstream_gene_variant LIRI-JP 3 49046515 49046515 single base substitution A G intron_variant LIRI-JP 3 49046515 49046515 single base substitution A G upstream_gene_variant LIRI-JP 3 49047186 49047186 single base substitution A T intron_variant LIRI-JP 3 49047186 49047186 single base substitution A T upstream_gene_variant LIRI-JP 3 49049541 49049541 single base substitution G C 3_prime_UTR_variant LIRI-JP 3 49049541 49049541 single base substitution G C downstream_gene_variant LIRI-JP 3 49049541 49049541 single base substitution G C exon_variant LIRI-JP 3 49049541 49049541 single base substitution G C intron_variant LIRI-JP 3 49049541 49049541 single base substitution G C missense_variant A141P 421G>C LIRI-JP 3 49049541 49049541 single base substitution G C missense_variant A192P 574G>C LIRI-JP 3 49049541 49049541 single base substitution G C missense_variant A222P 664G>C LIRI-JP 3 49049541 49049541 single base substitution G C missense_variant A224P 670G>C LIRI-JP 3 49049541 49049541 single base substitution G C upstream_gene_variant LIRI-JP 3 49052117 49052117 single base substitution C T 3_prime_UTR_variant LIRI-JP 3 49052117 49052117 single base substitution C T downstream_gene_variant LIRI-JP 3 49052117 49052117 single base substitution C T exon_variant LIRI-JP 3 49052117 49052117 single base substitution C T synonymous_variant V404V 1212C>T LIRI-JP 3 49052117 49052117 single base substitution C T synonymous_variant V905V 2715C>T LIRI-JP 3 49052117 49052117 single base substitution C T synonymous_variant V956V 2868C>T LIRI-JP 3 49052117 49052117 single base substitution C T synonymous_variant V986V 2958C>T LIRI-JP 3 49056256 49056256 single base substitution A C downstream_gene_variant LUSC-KR 3 49044986 49044986 single base substitution G A intron_variant LUSC-KR 3 49044986 49044986 single base substitution G A upstream_gene_variant LUSC-KR 3 49045429 49045429 single base substitution G T intron_variant LUSC-KR 3 49045429 49045429 single base substitution G T upstream_gene_variant LUSC-KR 3 49047179 49047179 single base substitution G T intron_variant LUSC-KR 3 49047179 49047179 single base substitution G T upstream_gene_variant LUSC-KR 3 49056930 49056930 single base substitution G T downstream_gene_variant LUSC-KR 3 49058318 49058318 single base substitution C A downstream_gene_variant LUSC-KR 3 49058366 49058366 single base substitution C T downstream_gene_variant LUSC-US 3 49039978 49039978 single base substitution G A upstream_gene_variant LUSC-US 3 49043509 49043509 single base substitution G A upstream_gene_variant LUSC-US 3 49043512 49043512 single base substitution G T upstream_gene_variant LUSC-US 3 49044195 49044195 single base substitution A G upstream_gene_variant LUSC-US 3 49044337 49044337 single base substitution C G upstream_gene_variant LUSC-US 3 49050270 49050270 single base substitution C T 3_prime_UTR_variant LUSC-US 3 49050270 49050270 single base substitution C T downstream_gene_variant LUSC-US 3 49050270 49050270 single base substitution C T exon_variant LUSC-US 3 49050270 49050270 single base substitution C T intron_variant LUSC-US 3 49050270 49050270 single base substitution C T missense_variant P384S 1150C>T LUSC-US 3 49050270 49050270 single base substitution C T missense_variant P435S 1303C>T LUSC-US 3 49050270 49050270 single base substitution C T missense_variant P465S 1393C>T LUSC-US 3 49050270 49050270 single base substitution C T upstream_gene_variant LUSC-US 3 49051126 49051126 single base substitution G C 3_prime_UTR_variant LUSC-US 3 49051126 49051126 single base substitution G C downstream_gene_variant LUSC-US 3 49051126 49051126 single base substitution G C exon_variant LUSC-US 3 49051126 49051126 single base substitution G C missense_variant G168A 503G>C LUSC-US 3 49051126 49051126 single base substitution G C missense_variant G669A 2006G>C LUSC-US 3 49051126 49051126 single base substitution G C missense_variant G720A 2159G>C LUSC-US 3 49051126 49051126 single base substitution G C missense_variant G750A 2249G>C LUSC-US 3 49051126 49051126 single base substitution G C upstream_gene_variant LUSC-US 3 49053093 49053093 single base substitution A G 3_prime_UTR_variant LUSC-US 3 49053093 49053093 single base substitution A G downstream_gene_variant LUSC-US 3 49054726 49054726 single base substitution C T downstream_gene_variant LUSC-US 3 49055175 49055175 single base substitution C G downstream_gene_variant MALY-DE 3 49056528 49056528 single base substitution C T downstream_gene_variant MALY-DE 3 49057994 49057994 single base substitution G A downstream_gene_variant MALY-DE 3 49058359 49058359 single base substitution G C downstream_gene_variant MELA-AU 3 49039738 49039738 single base substitution C T upstream_gene_variant MELA-AU 3 49039740 49039740 single base substitution C T upstream_gene_variant MELA-AU 3 49039781 49039781 single base substitution C T upstream_gene_variant MELA-AU 3 49040185 49040185 single base substitution C T upstream_gene_variant MELA-AU 3 49040479 49040479 single base substitution C T upstream_gene_variant MELA-AU 3 49040485 49040485 single base substitution C T upstream_gene_variant MELA-AU 3 49040558 49040558 single base substitution G A upstream_gene_variant MELA-AU 3 49041569 49041569 single base substitution C T upstream_gene_variant MELA-AU 3 49041772 49041772 single base substitution C T upstream_gene_variant MELA-AU 3 49042296 49042296 single base substitution T G upstream_gene_variant MELA-AU 3 49042327 49042327 single base substitution C T upstream_gene_variant MELA-AU 3 49042430 49042430 single base substitution C T upstream_gene_variant MELA-AU 3 49043048 49043048 single base substitution G A upstream_gene_variant MELA-AU 3 49043268 49043268 single base substitution C T upstream_gene_variant MELA-AU 3 49043856 49043856 single base substitution G A upstream_gene_variant MELA-AU 3 49043978 49043978 single base substitution G A upstream_gene_variant MELA-AU 3 49044242 49044243 multiple base substitution (>=2bp and <=200bp) CA AC upstream_gene_variant MELA-AU 3 49044730 49044730 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 3 49044730 49044730 single base substitution C T upstream_gene_variant MELA-AU 3 49045934 49045934 single base substitution G A intron_variant MELA-AU 3 49046625 49046625 single base substitution C T intron_variant MELA-AU 3 49046625 49046625 single base substitution C T upstream_gene_variant MELA-AU 3 49046644 49046644 single base substitution C T intron_variant MELA-AU 3 49046644 49046644 single base substitution C T upstream_gene_variant MELA-AU 3 49046728 49046728 single base substitution C T intron_variant MELA-AU 3 49046728 49046728 single base substitution C T upstream_gene_variant MELA-AU 3 49047078 49047078 single base substitution C T intron_variant MELA-AU 3 49047078 49047078 single base substitution C T upstream_gene_variant MELA-AU 3 49047369 49047369 single base substitution C T intron_variant MELA-AU 3 49047369 49047369 single base substitution C T upstream_gene_variant MELA-AU 3 49047640 49047640 single base substitution C T intron_variant MELA-AU 3 49047640 49047640 single base substitution C T upstream_gene_variant MELA-AU 3 49047936 49047936 single base substitution G A intron_variant MELA-AU 3 49047936 49047936 single base substitution G A upstream_gene_variant MELA-AU 3 49047969 49047969 single base substitution T G intron_variant MELA-AU 3 49047969 49047969 single base substitution T G upstream_gene_variant MELA-AU 3 49048665 49048665 single base substitution G C intron_variant MELA-AU 3 49048665 49048665 single base substitution G C upstream_gene_variant MELA-AU 3 49049244 49049244 single base substitution C T 3_prime_UTR_variant MELA-AU 3 49049244 49049244 single base substitution C T downstream_gene_variant MELA-AU 3 49049244 49049244 single base substitution C T exon_variant MELA-AU 3 49049244 49049244 single base substitution C T intron_variant MELA-AU 3 49049244 49049244 single base substitution C T stop_gained R123* 367C>T MELA-AU 3 49049244 49049244 single base substitution C T stop_gained R125* 373C>T MELA-AU 3 49049244 49049244 single base substitution C T stop_gained R42* 124C>T MELA-AU 3 49049244 49049244 single base substitution C T stop_gained R67* 199C>T MELA-AU 3 49049244 49049244 single base substitution C T stop_gained R93* 277C>T MELA-AU 3 49049244 49049244 single base substitution C T upstream_gene_variant MELA-AU 3 49049411 49049411 single base substitution C T 3_prime_UTR_variant MELA-AU 3 49049411 49049411 single base substitution C T downstream_gene_variant MELA-AU 3 49049411 49049411 single base substitution C T exon_variant MELA-AU 3 49049411 49049411 single base substitution C T intron_variant MELA-AU 3 49049411 49049411 single base substitution C T synonymous_variant I148I 444C>T MELA-AU 3 49049411 49049411 single base substitution C T synonymous_variant I178I 534C>T MELA-AU 3 49049411 49049411 single base substitution C T synonymous_variant I180I 540C>T MELA-AU 3 49049411 49049411 single base substitution C T synonymous_variant I97I 291C>T MELA-AU 3 49049411 49049411 single base substitution C T upstream_gene_variant MELA-AU 3 49049510 49049510 single base substitution C T 3_prime_UTR_variant MELA-AU 3 49049510 49049510 single base substitution C T downstream_gene_variant MELA-AU 3 49049510 49049510 single base substitution C T exon_variant MELA-AU 3 49049510 49049510 single base substitution C T intron_variant MELA-AU 3 49049510 49049510 single base substitution C T synonymous_variant S130S 390C>T MELA-AU 3 49049510 49049510 single base substitution C T synonymous_variant S181S 543C>T MELA-AU 3 49049510 49049510 single base substitution C T synonymous_variant S211S 633C>T MELA-AU 3 49049510 49049510 single base substitution C T synonymous_variant S213S 639C>T MELA-AU 3 49049510 49049510 single base substitution C T upstream_gene_variant MELA-AU 3 49049744 49049744 single base substitution C T 3_prime_UTR_variant MELA-AU 3 49049744 49049744 single base substitution C T downstream_gene_variant MELA-AU 3 49049744 49049744 single base substitution C T exon_variant MELA-AU 3 49049744 49049744 single base substitution C T intron_variant MELA-AU 3 49049744 49049744 single base substitution C T synonymous_variant A208A 624C>T MELA-AU 3 49049744 49049744 single base substitution C T synonymous_variant A259A 777C>T MELA-AU 3 49049744 49049744 single base substitution C T synonymous_variant A289A 867C>T MELA-AU 3 49049744 49049744 single base substitution C T upstream_gene_variant MELA-AU 3 49050131 49050131 single base substitution A G 3_prime_UTR_variant MELA-AU 3 49050131 49050131 single base substitution A G downstream_gene_variant MELA-AU 3 49050131 49050131 single base substitution A G exon_variant MELA-AU 3 49050131 49050131 single base substitution A G intron_variant MELA-AU 3 49050131 49050131 single base substitution A G synonymous_variant K337K 1011A>G MELA-AU 3 49050131 49050131 single base substitution A G synonymous_variant K388K 1164A>G MELA-AU 3 49050131 49050131 single base substitution A G synonymous_variant K418K 1254A>G MELA-AU 3 49050131 49050131 single base substitution A G upstream_gene_variant MELA-AU 3 49050428 49050429 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 3 49050428 49050429 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 3 49050428 49050429 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 3 49050428 49050429 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 49050428 49050429 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant PP436PS MELA-AU 3 49050428 49050429 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant PP487PS MELA-AU 3 49050428 49050429 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant PP517PS MELA-AU 3 49050428 49050429 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 3 49050761 49050761 single base substitution C T 3_prime_UTR_variant MELA-AU 3 49050761 49050761 single base substitution C T downstream_gene_variant MELA-AU 3 49050761 49050761 single base substitution C T exon_variant MELA-AU 3 49050761 49050761 single base substitution C T synonymous_variant D46D 138C>T MELA-AU 3 49050761 49050761 single base substitution C T synonymous_variant D547D 1641C>T MELA-AU 3 49050761 49050761 single base substitution C T synonymous_variant D598D 1794C>T MELA-AU 3 49050761 49050761 single base substitution C T synonymous_variant D628D 1884C>T MELA-AU 3 49050761 49050761 single base substitution C T upstream_gene_variant MELA-AU 3 49050938 49050938 single base substitution C T 3_prime_UTR_variant MELA-AU 3 49050938 49050938 single base substitution C T downstream_gene_variant MELA-AU 3 49050938 49050938 single base substitution C T exon_variant MELA-AU 3 49050938 49050938 single base substitution C T synonymous_variant H105H 315C>T MELA-AU 3 49050938 49050938 single base substitution C T synonymous_variant H606H 1818C>T MELA-AU 3 49050938 49050938 single base substitution C T synonymous_variant H657H 1971C>T MELA-AU 3 49050938 49050938 single base substitution C T synonymous_variant H687H 2061C>T MELA-AU 3 49050938 49050938 single base substitution C T upstream_gene_variant MELA-AU 3 49051112 49051112 single base substitution G A 3_prime_UTR_variant MELA-AU 3 49051112 49051112 single base substitution G A downstream_gene_variant MELA-AU 3 49051112 49051112 single base substitution G A exon_variant MELA-AU 3 49051112 49051112 single base substitution G A synonymous_variant L163L 489G>A MELA-AU 3 49051112 49051112 single base substitution G A synonymous_variant L664L 1992G>A MELA-AU 3 49051112 49051112 single base substitution G A synonymous_variant L715L 2145G>A MELA-AU 3 49051112 49051112 single base substitution G A synonymous_variant L745L 2235G>A MELA-AU 3 49051112 49051112 single base substitution G A upstream_gene_variant MELA-AU 3 49051635 49051635 single base substitution C T 3_prime_UTR_variant MELA-AU 3 49051635 49051635 single base substitution C T downstream_gene_variant MELA-AU 3 49051635 49051635 single base substitution C T exon_variant MELA-AU 3 49051635 49051635 single base substitution C T splice_region_variant MELA-AU 3 49051635 49051635 single base substitution C T upstream_gene_variant MELA-AU 3 49051819 49051819 single base substitution C T 3_prime_UTR_variant MELA-AU 3 49051819 49051819 single base substitution C T downstream_gene_variant MELA-AU 3 49051819 49051819 single base substitution C T exon_variant MELA-AU 3 49051819 49051819 single base substitution C T synonymous_variant L338L 1014C>T MELA-AU 3 49051819 49051819 single base substitution C T synonymous_variant L839L 2517C>T MELA-AU 3 49051819 49051819 single base substitution C T synonymous_variant L890L 2670C>T MELA-AU 3 49051819 49051819 single base substitution C T synonymous_variant L920L 2760C>T MELA-AU 3 49052042 49052042 single base substitution C T 3_prime_UTR_variant MELA-AU 3 49052042 49052042 single base substitution C T downstream_gene_variant MELA-AU 3 49052042 49052042 single base substitution C T exon_variant MELA-AU 3 49052042 49052042 single base substitution C T synonymous_variant L379L 1137C>T MELA-AU 3 49052042 49052042 single base substitution C T synonymous_variant L880L 2640C>T MELA-AU 3 49052042 49052042 single base substitution C T synonymous_variant L931L 2793C>T MELA-AU 3 49052042 49052042 single base substitution C T synonymous_variant L961L 2883C>T MELA-AU 3 49052082 49052082 single base substitution G A 3_prime_UTR_variant MELA-AU 3 49052082 49052082 single base substitution G A downstream_gene_variant MELA-AU 3 49052082 49052082 single base substitution G A exon_variant MELA-AU 3 49052082 49052082 single base substitution G A missense_variant D393N 1177G>A MELA-AU 3 49052082 49052082 single base substitution G A missense_variant D894N 2680G>A MELA-AU 3 49052082 49052082 single base substitution G A missense_variant D945N 2833G>A MELA-AU 3 49052082 49052082 single base substitution G A missense_variant D975N 2923G>A MELA-AU 3 49053582 49053582 single base substitution G A downstream_gene_variant MELA-AU 3 49053959 49053960 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 3 49054038 49054038 single base substitution G A downstream_gene_variant MELA-AU 3 49054227 49054227 single base substitution C T downstream_gene_variant MELA-AU 3 49054799 49054799 single base substitution G A downstream_gene_variant MELA-AU 3 49054875 49054876 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 3 49056010 49056010 single base substitution G A downstream_gene_variant MELA-AU 3 49056028 49056028 single base substitution A G downstream_gene_variant MELA-AU 3 49056028 49056028 single base substitution A T downstream_gene_variant MELA-AU 3 49056033 49056033 single base substitution T A downstream_gene_variant MELA-AU 3 49056058 49056058 single base substitution G A downstream_gene_variant MELA-AU 3 49056140 49056140 single base substitution C T downstream_gene_variant MELA-AU 3 49056762 49056762 single base substitution C G downstream_gene_variant ORCA-IN 3 49050784 49050784 single base substitution G T 3_prime_UTR_variant ORCA-IN 3 49050784 49050784 single base substitution G T downstream_gene_variant ORCA-IN 3 49050784 49050784 single base substitution G T exon_variant ORCA-IN 3 49050784 49050784 single base substitution G T missense_variant R54M 161G>T ORCA-IN 3 49050784 49050784 single base substitution G T missense_variant R555M 1664G>T ORCA-IN 3 49050784 49050784 single base substitution G T missense_variant R606M 1817G>T ORCA-IN 3 49050784 49050784 single base substitution G T missense_variant R636M 1907G>T ORCA-IN 3 49050784 49050784 single base substitution G T upstream_gene_variant ORCA-IN 3 49051273 49051273 single base substitution C A 3_prime_UTR_variant ORCA-IN 3 49051273 49051273 single base substitution C A downstream_gene_variant ORCA-IN 3 49051273 49051273 single base substitution C A exon_variant ORCA-IN 3 49051273 49051273 single base substitution C A missense_variant A217D 650C>A ORCA-IN 3 49051273 49051273 single base substitution C A missense_variant A718D 2153C>A ORCA-IN 3 49051273 49051273 single base substitution C A missense_variant A769D 2306C>A ORCA-IN 3 49051273 49051273 single base substitution C A missense_variant A799D 2396C>A ORCA-IN 3 49051273 49051273 single base substitution C A upstream_gene_variant OV-AU 3 49044999 49044999 single base substitution G C intron_variant OV-AU 3 49044999 49044999 single base substitution G C upstream_gene_variant OV-AU 3 49057672 49057672 single base substitution C T downstream_gene_variant OV-US 3 49042491 49042491 single base substitution C A upstream_gene_variant PACA-AU 3 49040898 49040898 single base substitution C A upstream_gene_variant PACA-AU 3 49043651 49043651 single base substitution T G upstream_gene_variant PACA-AU 3 49046441 49046441 single base substitution A T 5_prime_UTR_variant PACA-AU 3 49046441 49046441 single base substitution A T exon_variant PACA-AU 3 49046441 49046441 single base substitution A T intron_variant PACA-AU 3 49046441 49046441 single base substitution A T upstream_gene_variant PACA-AU 3 49047516 49047516 single base substitution G C intron_variant PACA-AU 3 49047516 49047516 single base substitution G C upstream_gene_variant PACA-AU 3 49047980 49047980 single base substitution C G intron_variant PACA-AU 3 49047980 49047980 single base substitution C G upstream_gene_variant PACA-CA 3 49042163 49042163 single base substitution A T upstream_gene_variant PACA-CA 3 49044585 49044585 single base substitution G C 5_prime_UTR_variant PACA-CA 3 49044585 49044585 single base substitution G C upstream_gene_variant PACA-CA 3 49044652 49044652 single base substitution G A 5_prime_UTR_variant PACA-CA 3 49044652 49044652 single base substitution G A upstream_gene_variant PACA-CA 3 49051185 49051185 single base substitution A T 3_prime_UTR_variant PACA-CA 3 49051185 49051185 single base substitution A T downstream_gene_variant PACA-CA 3 49051185 49051185 single base substitution A T exon_variant PACA-CA 3 49051185 49051185 single base substitution A T missense_variant T188S 562A>T PACA-CA 3 49051185 49051185 single base substitution A T missense_variant T689S 2065A>T PACA-CA 3 49051185 49051185 single base substitution A T missense_variant T740S 2218A>T PACA-CA 3 49051185 49051185 single base substitution A T missense_variant T770S 2308A>T PACA-CA 3 49051185 49051185 single base substitution A T upstream_gene_variant PAEN-AU 3 49047825 49047825 single base substitution T G intron_variant PAEN-AU 3 49047825 49047825 single base substitution T G upstream_gene_variant PBCA-DE 3 49050991 49050991 single base substitution A G 3_prime_UTR_variant PBCA-DE 3 49050991 49050991 single base substitution A G downstream_gene_variant PBCA-DE 3 49050991 49050991 single base substitution A G exon_variant PBCA-DE 3 49050991 49050991 single base substitution A G missense_variant K123R 368A>G PBCA-DE 3 49050991 49050991 single base substitution A G missense_variant K624R 1871A>G PBCA-DE 3 49050991 49050991 single base substitution A G missense_variant K675R 2024A>G PBCA-DE 3 49050991 49050991 single base substitution A G missense_variant K705R 2114A>G PBCA-DE 3 49050991 49050991 single base substitution A G upstream_gene_variant PRAD-CA 3 49045176 49045176 single base substitution C T intron_variant PRAD-CA 3 49045176 49045176 single base substitution C T upstream_gene_variant PRAD-CA 3 49057122 49057122 single base substitution A C downstream_gene_variant PRAD-US 3 49049664 49049664 single base substitution G A 3_prime_UTR_variant PRAD-US 3 49049664 49049664 single base substitution G A downstream_gene_variant PRAD-US 3 49049664 49049664 single base substitution G A exon_variant PRAD-US 3 49049664 49049664 single base substitution G A intron_variant PRAD-US 3 49049664 49049664 single base substitution G A missense_variant V182I 544G>A PRAD-US 3 49049664 49049664 single base substitution G A missense_variant V233I 697G>A PRAD-US 3 49049664 49049664 single base substitution G A missense_variant V263I 787G>A PRAD-US 3 49049664 49049664 single base substitution G A missense_variant V265I 793G>A PRAD-US 3 49049664 49049664 single base substitution G A upstream_gene_variant PRAD-US 3 49051423 49051423 single base substitution C A 3_prime_UTR_variant PRAD-US 3 49051423 49051423 single base substitution C A downstream_gene_variant PRAD-US 3 49051423 49051423 single base substitution C A exon_variant PRAD-US 3 49051423 49051423 single base substitution C A missense_variant T267N 800C>A PRAD-US 3 49051423 49051423 single base substitution C A missense_variant T768N 2303C>A PRAD-US 3 49051423 49051423 single base substitution C A missense_variant T819N 2456C>A PRAD-US 3 49051423 49051423 single base substitution C A missense_variant T849N 2546C>A PRAD-US 3 49051423 49051423 single base substitution C A upstream_gene_variant PRAD-US 3 49053448 49053448 single base substitution G T downstream_gene_variant READ-US 3 49043534 49043534 single base substitution G A upstream_gene_variant READ-US 3 49051179 49051179 single base substitution G A 3_prime_UTR_variant READ-US 3 49051179 49051179 single base substitution G A downstream_gene_variant READ-US 3 49051179 49051179 single base substitution G A exon_variant READ-US 3 49051179 49051179 single base substitution G A missense_variant D186N 556G>A READ-US 3 49051179 49051179 single base substitution G A missense_variant D687N 2059G>A READ-US 3 49051179 49051179 single base substitution G A missense_variant D738N 2212G>A READ-US 3 49051179 49051179 single base substitution G A missense_variant D768N 2302G>A READ-US 3 49051179 49051179 single base substitution G A upstream_gene_variant RECA-EU 3 49045245 49045245 single base substitution C T intron_variant RECA-EU 3 49045245 49045245 single base substitution C T upstream_gene_variant RECA-EU 3 49045619 49045619 single base substitution C T 5_prime_UTR_variant RECA-EU 3 49045619 49045619 single base substitution C T intron_variant RECA-EU 3 49057718 49057718 single base substitution C A downstream_gene_variant SKCA-BR 3 49044452 49044452 single base substitution A C upstream_gene_variant SKCA-BR 3 49045283 49045283 single base substitution G A intron_variant SKCA-BR 3 49045283 49045283 single base substitution G A upstream_gene_variant SKCA-BR 3 49046059 49046059 single base substitution G A intron_variant SKCA-BR 3 49051437 49051437 single base substitution A C 3_prime_UTR_variant SKCA-BR 3 49051437 49051437 single base substitution A C downstream_gene_variant SKCA-BR 3 49051437 49051437 single base substitution A C exon_variant SKCA-BR 3 49051437 49051437 single base substitution A C missense_variant T272P 814A>C SKCA-BR 3 49051437 49051437 single base substitution A C missense_variant T773P 2317A>C SKCA-BR 3 49051437 49051437 single base substitution A C missense_variant T824P 2470A>C SKCA-BR 3 49051437 49051437 single base substitution A C missense_variant T854P 2560A>C SKCA-BR 3 49051437 49051437 single base substitution A C upstream_gene_variant SKCA-BR 3 49051978 49051978 single base substitution T G downstream_gene_variant SKCA-BR 3 49051978 49051978 single base substitution T G intron_variant SKCA-BR 3 49054692 49054692 single base substitution T C downstream_gene_variant SKCA-BR 3 49056005 49056005 single base substitution G A downstream_gene_variant SKCA-BR 3 49056006 49056006 single base substitution G A downstream_gene_variant SKCM-US 3 49042403 49042403 single base substitution C T upstream_gene_variant SKCM-US 3 49043169 49043169 single base substitution C T upstream_gene_variant SKCM-US 3 49043268 49043268 single base substitution C T upstream_gene_variant SKCM-US 3 49043552 49043552 single base substitution G A upstream_gene_variant SKCM-US 3 49044310 49044310 single base substitution G A upstream_gene_variant SKCM-US 3 49049243 49049243 single base substitution C T 3_prime_UTR_variant SKCM-US 3 49049243 49049243 single base substitution C T downstream_gene_variant SKCM-US 3 49049243 49049243 single base substitution C T exon_variant SKCM-US 3 49049243 49049243 single base substitution C T intron_variant SKCM-US 3 49049243 49049243 single base substitution C T synonymous_variant L122L 366C>T SKCM-US 3 49049243 49049243 single base substitution C T synonymous_variant L124L 372C>T SKCM-US 3 49049243 49049243 single base substitution C T synonymous_variant L41L 123C>T SKCM-US 3 49049243 49049243 single base substitution C T synonymous_variant L66L 198C>T SKCM-US 3 49049243 49049243 single base substitution C T synonymous_variant L92L 276C>T SKCM-US 3 49049243 49049243 single base substitution C T upstream_gene_variant SKCM-US 3 49049302 49049302 single base substitution T G 3_prime_UTR_variant SKCM-US 3 49049302 49049302 single base substitution T G downstream_gene_variant SKCM-US 3 49049302 49049302 single base substitution T G exon_variant SKCM-US 3 49049302 49049302 single base substitution T G intron_variant SKCM-US 3 49049302 49049302 single base substitution T G missense_variant L112R 335T>G SKCM-US 3 49049302 49049302 single base substitution T G missense_variant L142R 425T>G SKCM-US 3 49049302 49049302 single base substitution T G missense_variant L144R 431T>G SKCM-US 3 49049302 49049302 single base substitution T G missense_variant L61R 182T>G SKCM-US 3 49049302 49049302 single base substitution T G missense_variant L86R 257T>G SKCM-US 3 49049302 49049302 single base substitution T G upstream_gene_variant SKCM-US 3 49049481 49049481 single base substitution G A 3_prime_UTR_variant SKCM-US 3 49049481 49049481 single base substitution G A downstream_gene_variant SKCM-US 3 49049481 49049481 single base substitution G A exon_variant SKCM-US 3 49049481 49049481 single base substitution G A intron_variant SKCM-US 3 49049481 49049481 single base substitution G A missense_variant E121K 361G>A SKCM-US 3 49049481 49049481 single base substitution G A missense_variant E172K 514G>A SKCM-US 3 49049481 49049481 single base substitution G A missense_variant E202K 604G>A SKCM-US 3 49049481 49049481 single base substitution G A missense_variant E204K 610G>A SKCM-US 3 49049481 49049481 single base substitution G A upstream_gene_variant SKCM-US 3 49049488 49049488 single base substitution C T 3_prime_UTR_variant SKCM-US 3 49049488 49049488 single base substitution C T downstream_gene_variant SKCM-US 3 49049488 49049488 single base substitution C T exon_variant SKCM-US 3 49049488 49049488 single base substitution C T intron_variant SKCM-US 3 49049488 49049488 single base substitution C T missense_variant T123I 368C>T SKCM-US 3 49049488 49049488 single base substitution C T missense_variant T174I 521C>T SKCM-US 3 49049488 49049488 single base substitution C T missense_variant T204I 611C>T SKCM-US 3 49049488 49049488 single base substitution C T missense_variant T206I 617C>T SKCM-US 3 49049488 49049488 single base substitution C T upstream_gene_variant SKCM-US 3 49049835 49049835 single base substitution C T 3_prime_UTR_variant SKCM-US 3 49049835 49049835 single base substitution C T downstream_gene_variant SKCM-US 3 49049835 49049835 single base substitution C T exon_variant SKCM-US 3 49049835 49049835 single base substitution C T intron_variant SKCM-US 3 49049835 49049835 single base substitution C T missense_variant L239F 715C>T SKCM-US 3 49049835 49049835 single base substitution C T missense_variant L290F 868C>T SKCM-US 3 49049835 49049835 single base substitution C T missense_variant L320F 958C>T SKCM-US 3 49049835 49049835 single base substitution C T upstream_gene_variant SKCM-US 3 49049985 49049985 single base substitution C T 3_prime_UTR_variant SKCM-US 3 49049985 49049985 single base substitution C T downstream_gene_variant SKCM-US 3 49049985 49049985 single base substitution C T exon_variant SKCM-US 3 49049985 49049985 single base substitution C T intron_variant SKCM-US 3 49049985 49049985 single base substitution C T missense_variant L289F 865C>T SKCM-US 3 49049985 49049985 single base substitution C T missense_variant L340F 1018C>T SKCM-US 3 49049985 49049985 single base substitution C T missense_variant L370F 1108C>T SKCM-US 3 49049985 49049985 single base substitution C T upstream_gene_variant SKCM-US 3 49050182 49050182 single base substitution C T 3_prime_UTR_variant SKCM-US 3 49050182 49050182 single base substitution C T downstream_gene_variant SKCM-US 3 49050182 49050182 single base substitution C T exon_variant SKCM-US 3 49050182 49050182 single base substitution C T intron_variant SKCM-US 3 49050182 49050182 single base substitution C T synonymous_variant F354F 1062C>T SKCM-US 3 49050182 49050182 single base substitution C T synonymous_variant F405F 1215C>T SKCM-US 3 49050182 49050182 single base substitution C T synonymous_variant F435F 1305C>T SKCM-US 3 49050182 49050182 single base substitution C T upstream_gene_variant SKCM-US 3 49050863 49050863 single base substitution C T 3_prime_UTR_variant SKCM-US 3 49050863 49050863 single base substitution C T downstream_gene_variant SKCM-US 3 49050863 49050863 single base substitution C T exon_variant SKCM-US 3 49050863 49050863 single base substitution C T synonymous_variant F581F 1743C>T SKCM-US 3 49050863 49050863 single base substitution C T synonymous_variant F632F 1896C>T SKCM-US 3 49050863 49050863 single base substitution C T synonymous_variant F662F 1986C>T SKCM-US 3 49050863 49050863 single base substitution C T synonymous_variant F80F 240C>T SKCM-US 3 49050863 49050863 single base substitution C T upstream_gene_variant SKCM-US 3 49050921 49050921 single base substitution A C 3_prime_UTR_variant SKCM-US 3 49050921 49050921 single base substitution A C downstream_gene_variant SKCM-US 3 49050921 49050921 single base substitution A C exon_variant SKCM-US 3 49050921 49050921 single base substitution A C missense_variant N100H 298A>C SKCM-US 3 49050921 49050921 single base substitution A C missense_variant N601H 1801A>C SKCM-US 3 49050921 49050921 single base substitution A C missense_variant N652H 1954A>C SKCM-US 3 49050921 49050921 single base substitution A C missense_variant N682H 2044A>C SKCM-US 3 49050921 49050921 single base substitution A C upstream_gene_variant SKCM-US 3 49051112 49051112 single base substitution G A 3_prime_UTR_variant SKCM-US 3 49051112 49051112 single base substitution G A downstream_gene_variant SKCM-US 3 49051112 49051112 single base substitution G A exon_variant SKCM-US 3 49051112 49051112 single base substitution G A synonymous_variant L163L 489G>A SKCM-US 3 49051112 49051112 single base substitution G A synonymous_variant L664L 1992G>A SKCM-US 3 49051112 49051112 single base substitution G A synonymous_variant L715L 2145G>A SKCM-US 3 49051112 49051112 single base substitution G A synonymous_variant L745L 2235G>A SKCM-US 3 49051112 49051112 single base substitution G A upstream_gene_variant SKCM-US 3 49051255 49051255 single base substitution C T 3_prime_UTR_variant SKCM-US 3 49051255 49051255 single base substitution C T downstream_gene_variant SKCM-US 3 49051255 49051255 single base substitution C T exon_variant SKCM-US 3 49051255 49051255 single base substitution C T missense_variant S211L 632C>T SKCM-US 3 49051255 49051255 single base substitution C T missense_variant S712L 2135C>T SKCM-US 3 49051255 49051255 single base substitution C T missense_variant S763L 2288C>T SKCM-US 3 49051255 49051255 single base substitution C T missense_variant S793L 2378C>T SKCM-US 3 49051255 49051255 single base substitution C T upstream_gene_variant SKCM-US 3 49051357 49051357 single base substitution G A 3_prime_UTR_variant SKCM-US 3 49051357 49051357 single base substitution G A downstream_gene_variant SKCM-US 3 49051357 49051357 single base substitution G A exon_variant SKCM-US 3 49051357 49051357 single base substitution G A missense_variant G245D 734G>A SKCM-US 3 49051357 49051357 single base substitution G A missense_variant G746D 2237G>A SKCM-US 3 49051357 49051357 single base substitution G A missense_variant G797D 2390G>A SKCM-US 3 49051357 49051357 single base substitution G A missense_variant G827D 2480G>A SKCM-US 3 49051357 49051357 single base substitution G A upstream_gene_variant SKCM-US 3 49051440 49051440 single base substitution C T 3_prime_UTR_variant SKCM-US 3 49051440 49051440 single base substitution C T downstream_gene_variant SKCM-US 3 49051440 49051440 single base substitution C T exon_variant SKCM-US 3 49051440 49051440 single base substitution C T missense_variant P273S 817C>T SKCM-US 3 49051440 49051440 single base substitution C T missense_variant P774S 2320C>T SKCM-US 3 49051440 49051440 single base substitution C T missense_variant P825S 2473C>T SKCM-US 3 49051440 49051440 single base substitution C T missense_variant P855S 2563C>T SKCM-US 3 49051440 49051440 single base substitution C T upstream_gene_variant SKCM-US 3 49052332 49052332 single base substitution G T 3_prime_UTR_variant SKCM-US 3 49052332 49052332 single base substitution G T downstream_gene_variant SKCM-US 3 49052332 49052332 single base substitution G T exon_variant SKCM-US 3 49052332 49052332 single base substitution G T stop_gained E1023* 3067G>T SKCM-US 3 49052332 49052332 single base substitution G T stop_gained E441* 1321G>T SKCM-US 3 49052332 49052332 single base substitution G T stop_gained E942* 2824G>T SKCM-US 3 49052332 49052332 single base substitution G T stop_gained E993* 2977G>T SKCM-US 3 49053042 49053042 single base substitution G A 3_prime_UTR_variant SKCM-US 3 49053042 49053042 single base substitution G A downstream_gene_variant SKCM-US 3 49053943 49053943 single base substitution G A downstream_gene_variant SKCM-US 3 49055203 49055203 single base substitution G A downstream_gene_variant SKCM-US 3 49055622 49055622 single base substitution G A downstream_gene_variant SKCM-US 3 49055845 49055845 single base substitution G A downstream_gene_variant SKCM-US 3 49055847 49055847 single base substitution A T downstream_gene_variant STAD-US 3 49040002 49040002 single base substitution G A upstream_gene_variant STAD-US 3 49042326 49042326 single base substitution T G upstream_gene_variant STAD-US 3 49042356 49042356 single base substitution T C upstream_gene_variant STAD-US 3 49042445 49042445 single base substitution G A upstream_gene_variant STAD-US 3 49042450 49042450 single base substitution C T upstream_gene_variant STAD-US 3 49042565 49042565 insertion of <=200bp - T upstream_gene_variant STAD-US 3 49043193 49043193 insertion of <=200bp - C upstream_gene_variant STAD-US 3 49044327 49044327 single base substitution G A upstream_gene_variant STAD-US 3 49049119 49049119 single base substitution G A 3_prime_UTR_variant STAD-US 3 49049119 49049119 single base substitution G A 5_prime_UTR_variant STAD-US 3 49049119 49049119 single base substitution G A exon_variant STAD-US 3 49049119 49049119 single base substitution G A intron_variant STAD-US 3 49049119 49049119 single base substitution G A missense_variant R25Q 74G>A STAD-US 3 49049119 49049119 single base substitution G A missense_variant R51Q 152G>A STAD-US 3 49049119 49049119 single base substitution G A missense_variant R81Q 242G>A STAD-US 3 49049119 49049119 single base substitution G A missense_variant R83Q 248G>A STAD-US 3 49049119 49049119 single base substitution G A upstream_gene_variant STAD-US 3 49049539 49049539 single base substitution C T 3_prime_UTR_variant STAD-US 3 49049539 49049539 single base substitution C T downstream_gene_variant STAD-US 3 49049539 49049539 single base substitution C T exon_variant STAD-US 3 49049539 49049539 single base substitution C T intron_variant STAD-US 3 49049539 49049539 single base substitution C T missense_variant T140I 419C>T STAD-US 3 49049539 49049539 single base substitution C T missense_variant T191I 572C>T STAD-US 3 49049539 49049539 single base substitution C T missense_variant T221I 662C>T STAD-US 3 49049539 49049539 single base substitution C T missense_variant T223I 668C>T STAD-US 3 49049539 49049539 single base substitution C T upstream_gene_variant STAD-US 3 49049542 49049542 single base substitution C T 3_prime_UTR_variant STAD-US 3 49049542 49049542 single base substitution C T downstream_gene_variant STAD-US 3 49049542 49049542 single base substitution C T exon_variant STAD-US 3 49049542 49049542 single base substitution C T intron_variant STAD-US 3 49049542 49049542 single base substitution C T missense_variant A141V 422C>T STAD-US 3 49049542 49049542 single base substitution C T missense_variant A192V 575C>T STAD-US 3 49049542 49049542 single base substitution C T missense_variant A222V 665C>T STAD-US 3 49049542 49049542 single base substitution C T missense_variant A224V 671C>T STAD-US 3 49049542 49049542 single base substitution C T upstream_gene_variant STAD-US 3 49049728 49049728 single base substitution G A 3_prime_UTR_variant STAD-US 3 49049728 49049728 single base substitution G A downstream_gene_variant STAD-US 3 49049728 49049728 single base substitution G A exon_variant STAD-US 3 49049728 49049728 single base substitution G A intron_variant STAD-US 3 49049728 49049728 single base substitution G A missense_variant C203Y 608G>A STAD-US 3 49049728 49049728 single base substitution G A missense_variant C254Y 761G>A STAD-US 3 49049728 49049728 single base substitution G A missense_variant C284Y 851G>A STAD-US 3 49049728 49049728 single base substitution G A upstream_gene_variant STAD-US 3 49050093 49050093 single base substitution G A 3_prime_UTR_variant STAD-US 3 49050093 49050093 single base substitution G A downstream_gene_variant STAD-US 3 49050093 49050093 single base substitution G A exon_variant STAD-US 3 49050093 49050093 single base substitution G A intron_variant STAD-US 3 49050093 49050093 single base substitution G A missense_variant V325I 973G>A STAD-US 3 49050093 49050093 single base substitution G A missense_variant V376I 1126G>A STAD-US 3 49050093 49050093 single base substitution G A missense_variant V406I 1216G>A STAD-US 3 49050093 49050093 single base substitution G A upstream_gene_variant STAD-US 3 49050138 49050138 single base substitution C A 3_prime_UTR_variant STAD-US 3 49050138 49050138 single base substitution C A downstream_gene_variant STAD-US 3 49050138 49050138 single base substitution C A exon_variant STAD-US 3 49050138 49050138 single base substitution C A intron_variant STAD-US 3 49050138 49050138 single base substitution C A missense_variant Q340K 1018C>A STAD-US 3 49050138 49050138 single base substitution C A missense_variant Q391K 1171C>A STAD-US 3 49050138 49050138 single base substitution C A missense_variant Q421K 1261C>A STAD-US 3 49050138 49050138 single base substitution C A upstream_gene_variant STAD-US 3 49050488 49050488 single base substitution G A 3_prime_UTR_variant STAD-US 3 49050488 49050488 single base substitution G A downstream_gene_variant STAD-US 3 49050488 49050488 single base substitution G A exon_variant STAD-US 3 49050488 49050488 single base substitution G A intron_variant STAD-US 3 49050488 49050488 single base substitution G A synonymous_variant V456V 1368G>A STAD-US 3 49050488 49050488 single base substitution G A synonymous_variant V507V 1521G>A STAD-US 3 49050488 49050488 single base substitution G A synonymous_variant V537V 1611G>A STAD-US 3 49050488 49050488 single base substitution G A upstream_gene_variant STAD-US 3 49051263 49051263 single base substitution G A 3_prime_UTR_variant STAD-US 3 49051263 49051263 single base substitution G A downstream_gene_variant STAD-US 3 49051263 49051263 single base substitution G A exon_variant STAD-US 3 49051263 49051263 single base substitution G A missense_variant A214T 640G>A STAD-US 3 49051263 49051263 single base substitution G A missense_variant A715T 2143G>A STAD-US 3 49051263 49051263 single base substitution G A missense_variant A766T 2296G>A STAD-US 3 49051263 49051263 single base substitution G A missense_variant A796T 2386G>A STAD-US 3 49051263 49051263 single base substitution G A upstream_gene_variant STAD-US 3 49051460 49051460 single base substitution T A 3_prime_UTR_variant STAD-US 3 49051460 49051460 single base substitution T A downstream_gene_variant STAD-US 3 49051460 49051460 single base substitution T A exon_variant STAD-US 3 49051460 49051460 single base substitution T A missense_variant H279Q 837T>A STAD-US 3 49051460 49051460 single base substitution T A missense_variant H780Q 2340T>A STAD-US 3 49051460 49051460 single base substitution T A missense_variant H831Q 2493T>A STAD-US 3 49051460 49051460 single base substitution T A missense_variant H861Q 2583T>A STAD-US 3 49051460 49051460 single base substitution T A upstream_gene_variant STAD-US 3 49051915 49051915 single base substitution G A 3_prime_UTR_variant STAD-US 3 49051915 49051915 single base substitution G A downstream_gene_variant STAD-US 3 49051915 49051915 single base substitution G A exon_variant STAD-US 3 49051915 49051915 single base substitution G A synonymous_variant E370E 1110G>A STAD-US 3 49051915 49051915 single base substitution G A synonymous_variant E871E 2613G>A STAD-US 3 49051915 49051915 single base substitution G A synonymous_variant E922E 2766G>A STAD-US 3 49051915 49051915 single base substitution G A synonymous_variant E952E 2856G>A STAD-US 3 49052400 49052400 single base substitution G A 3_prime_UTR_variant STAD-US 3 49052400 49052400 single base substitution G A downstream_gene_variant STAD-US 3 49052400 49052400 single base substitution G A exon_variant STAD-US 3 49052400 49052400 single base substitution G A synonymous_variant E1015E 3045G>A STAD-US 3 49052400 49052400 single base substitution G A synonymous_variant E1045E 3135G>A STAD-US 3 49052400 49052400 single base substitution G A synonymous_variant E463E 1389G>A STAD-US 3 49052400 49052400 single base substitution G A synonymous_variant E964E 2892G>A STAD-US 3 49052464 49052464 single base substitution G T 3_prime_UTR_variant STAD-US 3 49052464 49052464 single base substitution G T downstream_gene_variant STAD-US 3 49052464 49052464 single base substitution G T exon_variant STAD-US 3 49052464 49052464 single base substitution G T stop_gained E1037* 3109G>T STAD-US 3 49052464 49052464 single base substitution G T stop_gained E1067* 3199G>T STAD-US 3 49052464 49052464 single base substitution G T stop_gained E485* 1453G>T STAD-US 3 49052464 49052464 single base substitution G T stop_gained E986* 2956G>T STAD-US 3 49053239 49053239 single base substitution C A 3_prime_UTR_variant STAD-US 3 49053239 49053239 single base substitution C A downstream_gene_variant STAD-US 3 49053507 49053507 single base substitution A G downstream_gene_variant STAD-US 3 49053945 49053945 single base substitution C T downstream_gene_variant STAD-US 3 49054740 49054740 single base substitution A G downstream_gene_variant STAD-US 3 49055175 49055175 single base substitution C T downstream_gene_variant STAD-US 3 49055245 49055245 single base substitution C A downstream_gene_variant THCA-SA 3 49044713 49044713 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant THCA-SA 3 49044713 49044713 single base substitution C T upstream_gene_variant THCA-US 3 49042565 49042565 single base substitution C G upstream_gene_variant UCEC-US 3 49039994 49039994 single base substitution T C upstream_gene_variant UCEC-US 3 49040029 49040029 single base substitution G A upstream_gene_variant UCEC-US 3 49042339 49042339 single base substitution C T upstream_gene_variant UCEC-US 3 49042505 49042505 single base substitution C T upstream_gene_variant UCEC-US 3 49044306 49044306 single base substitution A G upstream_gene_variant UCEC-US 3 49048913 49048913 single base substitution G A 5_prime_UTR_variant UCEC-US 3 49048913 49048913 single base substitution G A exon_variant UCEC-US 3 49048913 49048913 single base substitution G A intron_variant UCEC-US 3 49048913 49048913 single base substitution G A missense_variant E54K 160G>A UCEC-US 3 49048913 49048913 single base substitution G A upstream_gene_variant UCEC-US 3 49049293 49049293 single base substitution G A 3_prime_UTR_variant UCEC-US 3 49049293 49049293 single base substitution G A downstream_gene_variant UCEC-US 3 49049293 49049293 single base substitution G A exon_variant UCEC-US 3 49049293 49049293 single base substitution G A intron_variant UCEC-US 3 49049293 49049293 single base substitution G A missense_variant R109H 326G>A UCEC-US 3 49049293 49049293 single base substitution G A missense_variant R139H 416G>A UCEC-US 3 49049293 49049293 single base substitution G A missense_variant R141H 422G>A UCEC-US 3 49049293 49049293 single base substitution G A missense_variant R58H 173G>A UCEC-US 3 49049293 49049293 single base substitution G A missense_variant R83H 248G>A UCEC-US 3 49049293 49049293 single base substitution G A upstream_gene_variant UCEC-US 3 49049335 49049335 single base substitution G T 3_prime_UTR_variant UCEC-US 3 49049335 49049335 single base substitution G T downstream_gene_variant UCEC-US 3 49049335 49049335 single base substitution G T exon_variant UCEC-US 3 49049335 49049335 single base substitution G T intron_variant UCEC-US 3 49049335 49049335 single base substitution G T missense_variant R123L 368G>T UCEC-US 3 49049335 49049335 single base substitution G T missense_variant R153L 458G>T UCEC-US 3 49049335 49049335 single base substitution G T missense_variant R155L 464G>T UCEC-US 3 49049335 49049335 single base substitution G T missense_variant R72L 215G>T UCEC-US 3 49049335 49049335 single base substitution G T missense_variant R97L 290G>T UCEC-US 3 49049335 49049335 single base substitution G T upstream_gene_variant UCEC-US 3 49049535 49049535 single base substitution G T 3_prime_UTR_variant UCEC-US 3 49049535 49049535 single base substitution G T downstream_gene_variant UCEC-US 3 49049535 49049535 single base substitution G T exon_variant UCEC-US 3 49049535 49049535 single base substitution G T intron_variant UCEC-US 3 49049535 49049535 single base substitution G T missense_variant A139S 415G>T UCEC-US 3 49049535 49049535 single base substitution G T missense_variant A190S 568G>T UCEC-US 3 49049535 49049535 single base substitution G T missense_variant A220S 658G>T UCEC-US 3 49049535 49049535 single base substitution G T missense_variant A222S 664G>T UCEC-US 3 49049535 49049535 single base substitution G T upstream_gene_variant UCEC-US 3 49049668 49049668 single base substitution G A 3_prime_UTR_variant UCEC-US 3 49049668 49049668 single base substitution G A downstream_gene_variant UCEC-US 3 49049668 49049668 single base substitution G A exon_variant UCEC-US 3 49049668 49049668 single base substitution G A intron_variant UCEC-US 3 49049668 49049668 single base substitution G A missense_variant R183H 548G>A UCEC-US 3 49049668 49049668 single base substitution G A missense_variant R234H 701G>A UCEC-US 3 49049668 49049668 single base substitution G A missense_variant R264H 791G>A UCEC-US 3 49049668 49049668 single base substitution G A missense_variant R266H 797G>A UCEC-US 3 49049668 49049668 single base substitution G A upstream_gene_variant UCEC-US 3 49049955 49049955 single base substitution C T 3_prime_UTR_variant UCEC-US 3 49049955 49049955 single base substitution C T downstream_gene_variant UCEC-US 3 49049955 49049955 single base substitution C T exon_variant UCEC-US 3 49049955 49049955 single base substitution C T intron_variant UCEC-US 3 49049955 49049955 single base substitution C T missense_variant R279C 835C>T UCEC-US 3 49049955 49049955 single base substitution C T missense_variant R330C 988C>T UCEC-US 3 49049955 49049955 single base substitution C T missense_variant R360C 1078C>T UCEC-US 3 49049955 49049955 single base substitution C T upstream_gene_variant UCEC-US 3 49049981 49049981 single base substitution G A 3_prime_UTR_variant UCEC-US 3 49049981 49049981 single base substitution G A downstream_gene_variant UCEC-US 3 49049981 49049981 single base substitution G A exon_variant UCEC-US 3 49049981 49049981 single base substitution G A intron_variant UCEC-US 3 49049981 49049981 single base substitution G A synonymous_variant S287S 861G>A UCEC-US 3 49049981 49049981 single base substitution G A synonymous_variant S338S 1014G>A UCEC-US 3 49049981 49049981 single base substitution G A synonymous_variant S368S 1104G>A UCEC-US 3 49049981 49049981 single base substitution G A upstream_gene_variant UCEC-US 3 49050174 49050174 single base substitution G A 3_prime_UTR_variant UCEC-US 3 49050174 49050174 single base substitution G A downstream_gene_variant UCEC-US 3 49050174 49050174 single base substitution G A exon_variant UCEC-US 3 49050174 49050174 single base substitution G A intron_variant UCEC-US 3 49050174 49050174 single base substitution G A missense_variant E352K 1054G>A UCEC-US 3 49050174 49050174 single base substitution G A missense_variant E403K 1207G>A UCEC-US 3 49050174 49050174 single base substitution G A missense_variant E433K 1297G>A UCEC-US 3 49050174 49050174 single base substitution G A upstream_gene_variant UCEC-US 3 49050375 49050375 single base substitution G A 3_prime_UTR_variant UCEC-US 3 49050375 49050375 single base substitution G A downstream_gene_variant UCEC-US 3 49050375 49050375 single base substitution G A exon_variant UCEC-US 3 49050375 49050375 single base substitution G A intron_variant UCEC-US 3 49050375 49050375 single base substitution G A missense_variant A419T 1255G>A UCEC-US 3 49050375 49050375 single base substitution G A missense_variant A470T 1408G>A UCEC-US 3 49050375 49050375 single base substitution G A missense_variant A500T 1498G>A UCEC-US 3 49050375 49050375 single base substitution G A upstream_gene_variant UCEC-US 3 49050495 49050495 single base substitution G A 3_prime_UTR_variant UCEC-US 3 49050495 49050495 single base substitution G A downstream_gene_variant UCEC-US 3 49050495 49050495 single base substitution G A exon_variant UCEC-US 3 49050495 49050495 single base substitution G A intron_variant UCEC-US 3 49050495 49050495 single base substitution G A missense_variant D459N 1375G>A UCEC-US 3 49050495 49050495 single base substitution G A missense_variant D510N 1528G>A UCEC-US 3 49050495 49050495 single base substitution G A missense_variant D540N 1618G>A UCEC-US 3 49050495 49050495 single base substitution G A upstream_gene_variant UCEC-US 3 49050798 49050798 single base substitution C T 3_prime_UTR_variant UCEC-US 3 49050798 49050798 single base substitution C T downstream_gene_variant UCEC-US 3 49050798 49050798 single base substitution C T exon_variant UCEC-US 3 49050798 49050798 single base substitution C T stop_gained R560* 1678C>T UCEC-US 3 49050798 49050798 single base substitution C T stop_gained R59* 175C>T UCEC-US 3 49050798 49050798 single base substitution C T stop_gained R611* 1831C>T UCEC-US 3 49050798 49050798 single base substitution C T stop_gained R641* 1921C>T UCEC-US 3 49050798 49050798 single base substitution C T upstream_gene_variant UCEC-US 3 49050826 49050826 single base substitution G A 3_prime_UTR_variant UCEC-US 3 49050826 49050826 single base substitution G A downstream_gene_variant UCEC-US 3 49050826 49050826 single base substitution G A exon_variant UCEC-US 3 49050826 49050826 single base substitution G A missense_variant R569H 1706G>A UCEC-US 3 49050826 49050826 single base substitution G A missense_variant R620H 1859G>A UCEC-US 3 49050826 49050826 single base substitution G A missense_variant R650H 1949G>A UCEC-US 3 49050826 49050826 single base substitution G A missense_variant R68H 203G>A UCEC-US 3 49050826 49050826 single base substitution G A upstream_gene_variant UCEC-US 3 49050943 49050943 single base substitution C T 3_prime_UTR_variant UCEC-US 3 49050943 49050943 single base substitution C T downstream_gene_variant UCEC-US 3 49050943 49050943 single base substitution C T exon_variant UCEC-US 3 49050943 49050943 single base substitution C T missense_variant S107L 320C>T UCEC-US 3 49050943 49050943 single base substitution C T missense_variant S608L 1823C>T UCEC-US 3 49050943 49050943 single base substitution C T missense_variant S659L 1976C>T UCEC-US 3 49050943 49050943 single base substitution C T missense_variant S689L 2066C>T UCEC-US 3 49050943 49050943 single base substitution C T upstream_gene_variant UCEC-US 3 49051142 49051142 single base substitution G A 3_prime_UTR_variant UCEC-US 3 49051142 49051142 single base substitution G A downstream_gene_variant UCEC-US 3 49051142 49051142 single base substitution G A exon_variant UCEC-US 3 49051142 49051142 single base substitution G A missense_variant M173I 519G>A UCEC-US 3 49051142 49051142 single base substitution G A missense_variant M674I 2022G>A UCEC-US 3 49051142 49051142 single base substitution G A missense_variant M725I 2175G>A UCEC-US 3 49051142 49051142 single base substitution G A missense_variant M755I 2265G>A UCEC-US 3 49051142 49051142 single base substitution G A upstream_gene_variant UCEC-US 3 49051263 49051263 single base substitution G A 3_prime_UTR_variant UCEC-US 3 49051263 49051263 single base substitution G A downstream_gene_variant UCEC-US 3 49051263 49051263 single base substitution G A exon_variant UCEC-US 3 49051263 49051263 single base substitution G A missense_variant A214T 640G>A UCEC-US 3 49051263 49051263 single base substitution G A missense_variant A715T 2143G>A UCEC-US 3 49051263 49051263 single base substitution G A missense_variant A766T 2296G>A UCEC-US 3 49051263 49051263 single base substitution G A missense_variant A796T 2386G>A UCEC-US 3 49051263 49051263 single base substitution G A upstream_gene_variant UCEC-US 3 49052141 49052141 single base substitution G A 3_prime_UTR_variant UCEC-US 3 49052141 49052141 single base substitution G A downstream_gene_variant UCEC-US 3 49052141 49052141 single base substitution G A exon_variant UCEC-US 3 49052141 49052141 single base substitution G A synonymous_variant G412G 1236G>A UCEC-US 3 49052141 49052141 single base substitution G A synonymous_variant G913G 2739G>A UCEC-US 3 49052141 49052141 single base substitution G A synonymous_variant G964G 2892G>A UCEC-US 3 49052141 49052141 single base substitution G A synonymous_variant G994G 2982G>A UCEC-US 3 49052386 49052386 single base substitution G A 3_prime_UTR_variant UCEC-US 3 49052386 49052386 single base substitution G A downstream_gene_variant UCEC-US 3 49052386 49052386 single base substitution G A exon_variant UCEC-US 3 49052386 49052386 single base substitution G A missense_variant V1011M 3031G>A UCEC-US 3 49052386 49052386 single base substitution G A missense_variant V1041M 3121G>A UCEC-US 3 49052386 49052386 single base substitution G A missense_variant V459M 1375G>A UCEC-US 3 49052386 49052386 single base substitution G A missense_variant V960M 2878G>A UCEC-US 3 49052471 49052471 single base substitution C A 3_prime_UTR_variant UCEC-US 3 49052471 49052471 single base substitution C A downstream_gene_variant UCEC-US 3 49052471 49052471 single base substitution C A exon_variant UCEC-US 3 49052471 49052471 single base substitution C A missense_variant S1039Y 3116C>A UCEC-US 3 49052471 49052471 single base substitution C A missense_variant S1069Y 3206C>A UCEC-US 3 49052471 49052471 single base substitution C A missense_variant S487Y 1460C>A UCEC-US 3 49052471 49052471 single base substitution C A missense_variant S988Y 2963C>A UCEC-US 3 49052592 49052592 single base substitution C T 3_prime_UTR_variant UCEC-US 3 49052592 49052592 single base substitution C T downstream_gene_variant UCEC-US 3 49052592 49052592 single base substitution C T exon_variant UCEC-US 3 49052592 49052592 single base substitution C T synonymous_variant T1028T 3084C>T UCEC-US 3 49052592 49052592 single base substitution C T synonymous_variant T1079T 3237C>T UCEC-US 3 49052592 49052592 single base substitution C T synonymous_variant T1109T 3327C>T UCEC-US 3 49052592 49052592 single base substitution C T synonymous_variant T527T 1581C>T UCEC-US 3 49053774 49053774 single base substitution C T downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-BR-8591-01 COSM4118365 c.1521G>A p.V507V Substitution - coding silent 3:49013055-49013055 + TCGA-AA-3710-01 COSM5104222 c.2911_2912insC p.S973fs*21 Insertion - Frameshift 3:49014833-49014834 + HCC95 COSM1617740 c.1228A>G p.M410V Substitution - Missense 3:49012762-49012762 + OSCC-GB_01060111 COSM4882724 c.2396C>A p.A799D Substitution - Missense 3:49013840-49013840 + TCGA-IR-A3LK-01 COSM4817153 c.2556C>T p.P852P Substitution - coding silent 3:49014000-49014000 + TCGA-D7-6527-01 COSM4118368 c.3045G>A p.E1015E Substitution - coding silent 3:49014967-49014967 + 102 COSM5016004 c.1341delT p.Y448fs*14 Deletion - Frameshift 3:49012875-49012875 + sysucc-1317T COSM5449883 c.331G>T p.E111* Substitution - Nonsense 3:49011775-49011775 + TCGA-BF-A1Q0-01 COSM3595156 c.1896C>T p.F632F Substitution - coding silent 3:49013430-49013430 + TCGA-CG-5720-01 COSM4118366 c.2493T>A p.H831Q Substitution - Missense 3:49014027-49014027 + CHC1731T COSM4792118 c.2598G>T p.S866S Substitution - coding silent 3:49014042-49014042 + B105-0-Tumor COSM1753259 c.2647T>C p.C883R Substitution - Missense 3:49014274-49014274 + TCGA-EK-A3GK-01 COSM4853809 c.331G>C p.E111Q Substitution - Missense 3:49011775-49011775 + CHC1763T COSM4789732 c.949G>T p.G317C Substitution - Missense 3:49012483-49012483 + TCGA-BR-4370-01 COSM4118360 c.152G>A p.R51Q Substitution - Missense 3:49011686-49011686 + I2L-P7-Tumor-Organoid COSM5355648 c.668T>C p.L223S Substitution - Missense 3:49012112-49012112 + TCGA-BG-A0RY-01 COSM1045987 c.368G>T p.R123L Substitution - Missense 3:49011902-49011902 + TCGA-AA-3710-01 COSM5105299 c.2485G>A p.A829T Substitution - Missense 3:49014019-49014019 + B105-0 COSM1753259 c.2647T>C p.C883R Substitution - Missense 3:49014274-49014274 + TCGA-24-2289-01 COSM116015 c.677C>T p.T226I Substitution - Missense 3:49012211-49012211 + EGC3 COSM5059794 c.2415G>A p.A805A Substitution - coding silent 3:49013949-49013949 + TCGA-D3-A5GO-06 COSM3595152 c.521C>T p.T174I Substitution - Missense 3:49012055-49012055 + TCGA-EE-A20C-06 COSM3595157 c.2145G>A p.L715L Substitution - coding silent 3:49013679-49013679 + ME035T COSM227463 c.1718C>T p.T573I Substitution - Missense 3:49013252-49013252 + BD72T COSM5511896 c.1017G>A p.R339R Substitution - coding silent 3:49012461-49012461 + T2938 COSM4741006 c.114T>G p.V38V Substitution - coding silent 3:49007455-49007455 + TCGA-BR-7707-01 COSM4118364 c.1171C>A p.Q391K Substitution - Missense 3:49012705-49012705 + TP_2054 COSM5558248 c.2025G>A p.K675K Substitution - coding silent 3:49013559-49013559 + LC_S15 COSM1186289 c.265A>T p.S89C Substitution - Missense 3:49011799-49011799 + TCGA-AX-A0J0-01 COSM1045986 c.326G>A p.R109H Substitution - Missense 3:49011860-49011860 + TCGA-BH-A0HA-01 COSM446678 c.523A>G p.I175V Substitution - Missense 3:49012057-49012057 + sysucc-783T COSM5484630 c.2341G>A p.A781T Substitution - Missense 3:49013875-49013875 + TCGA-AX-A060-01 COSM1045998 c.2175G>A p.M725I Substitution - Missense 3:49013709-49013709 + TCGA-AD-6889-01 COSM5129694 c.2403T>C p.C801C Substitution - coding silent 3:49013847-49013847 + TCGA-AX-A0J1-01 COSM1045989 c.701G>A p.R234H Substitution - Missense 3:49012235-49012235 + SC_9100 COSM5572001 c.2662G>A p.V888I Substitution - Missense 3:49014289-49014289 + HN_62854 COSM130202 c.685G>C p.E229Q Substitution - Missense 3:49012219-49012219 + sysucc-1397T COSM5474624 c.754G>T p.G252* Substitution - Nonsense 3:49012198-49012198 + TCGA-AA-3663-01 COSM1423853 c.2212G>A p.D738N Substitution - Missense 3:49013746-49013746 + TCGA-AC-A23H-01 COSM5204692 c.837G>A p.Q279Q Substitution - coding silent 3:49012281-49012281 + CHC1763T COSM4789731 c.1039G>T p.G347C Substitution - Missense 3:49012483-49012483 + TCGA-29-2432-01 COSM1328163 c.1075T>A p.S359T Substitution - Missense 3:49012609-49012609 + pfg008T COSM1642290 c.1126G>A p.V376I Substitution - Missense 3:49012660-49012660 + pfg068T COSM4754755 c.2362C>T p.P788S Substitution - Missense 3:49013896-49013896 + HCC009T COSM5819875 c.215A>G p.Y72C Substitution - Missense 3:49011659-49011659 + I2L-P7-Tumor-Organoid COSM5355574 c.1854T>C p.D618D Substitution - coding silent 3:49013298-49013298 + TCGA-CK-4951-01 COSM5151494 c.232C>A p.L78I Substitution - Missense 3:49011766-49011766 + TCGA-BH-A0HA-01 COSM5216926 c.613A>G p.I205V Substitution - Missense 3:49012057-49012057 + LUAD-B00915 COSM332927 c.953A>G p.D318G Substitution - Missense 3:49012487-49012487 + sysucc-1163T COSM5105298 c.2575G>A p.A859T Substitution - Missense 3:49014019-49014019 + LOVO COSM2849210 c.2414_2415insG p.R808fs*3 Insertion - Frameshift 3:49013948-49013949 + pfg008T COSM4754751 c.1216G>A p.V406I Substitution - Missense 3:49012660-49012660 + 102 COSM5016003 c.1431delT p.Y478fs*14 Deletion - Frameshift 3:49012875-49012875 + T3090 COSM1423855 c.2415delG p.R808fs*33 Deletion - Frameshift 3:49013949-49013949 + 1517_CLM COSM1045990 c.988C>T p.R330C Substitution - Missense 3:49012522-49012522 + TCGA-G4-6302-01 COSM3696137 c.112G>A p.D38N Substitution - Missense 3:49011646-49011646 + 1517_CLM COSM5756301 c.1078C>T p.R360C Substitution - Missense 3:49012522-49012522 + 2_RESISTANT COSM1722946 c.2365G>A p.G789S Substitution - Missense 3:49013899-49013899 + TCGA-E2-A15F-01 COSM5228278 c.1578C>T p.C526C Substitution - coding silent 3:49013022-49013022 + T3444 COSM4741008 c.2386G>A p.A796T Substitution - Missense 3:49013830-49013830 + sysucc-1163T COSM5105299 c.2485G>A p.A829T Substitution - Missense 3:49014019-49014019 + HCC159 COSM3660598 c.2666+9A>G p.? Unknown 3:49014302-49014302 + BRC41 COSM5025947 c.2697A>G p.E899E Substitution - coding silent 3:49014234-49014234 + TCGA-B5-A0JY-01 COSM1045992 c.1207G>A p.E403K Substitution - Missense 3:49012741-49012741 + HCC159T COSM3660598 c.2666+9A>G p.? Unknown 3:49014302-49014302 + I2L-P7-Tumor-Organoid COSM5059792 c.2504_2505insG p.R838fs*3 Insertion - Frameshift 3:49013948-49013949 + RMS110_ COSM4987282 c.1747G>A p.A583T Substitution - Missense 3:49013191-49013191 + TCGA-AC-A23H-01 COSM5204693 c.2764C>G p.L922V Substitution - Missense 3:49014390-49014390 + TCGA-C5-A7CJ-01 COSM4821350 c.2902G>A p.D968N Substitution - Missense 3:49014628-49014628 + TCGA-D5-6540-01 COSM1423855 c.2415delG p.R808fs*33 Deletion - Frameshift 3:49013949-49013949 + TCGA-EE-A2GT-06 COSM3595159 c.2473C>T p.P825S Substitution - Missense 3:49014007-49014007 + TCGA-AD-6889-01 COSM1423854 c.2313T>C p.C771C Substitution - coding silent 3:49013847-49013847 + CHC892T COSM4797938 c.1234G>A p.E412K Substitution - Missense 3:49012678-49012678 + MOLT-4 COSM1670188 c.2125C>T p.R709C Substitution - Missense 3:49013659-49013659 + PD13619a COSM5783605 c.2873+8G>T p.? Unknown 3:49014507-49014507 + TCGA-AP-A056-01 COSM1045996 c.1859G>A p.R620H Substitution - Missense 3:49013393-49013393 + TCGA-GM-A2DB-01 COSM5232497 c.1507G>C p.G503R Substitution - Missense 3:49012951-49012951 + TCGA-D5-6530-01 COSM5162807 c.2935C>A p.H979N Substitution - Missense 3:49014857-49014857 + TCGA-G4-6320-01 COSM3696138 c.1659T>C p.A553A Substitution - coding silent 3:49013193-49013193 + sysucc-1317T COSM5449884 c.241G>T p.E81* Substitution - Nonsense 3:49011775-49011775 + TCGA-D5-6540-01 COSM4741009 c.2505delG p.R838fs*33 Deletion - Frameshift 3:49013949-49013949 + PCSI_0476_Pa_P_526 COSM5031321 c.2308A>T p.T770S Substitution - Missense 3:49013752-49013752 + NB2181 COSM5101291 c.2302G>A p.D768N Substitution - Missense 3:49013746-49013746 + SC_9097 COSM5551333 c.2153G>A p.C718Y Substitution - Missense 3:49013597-49013597 + YURAY COSM5399570 c.2955T>G p.T985T Substitution - coding silent 3:49014681-49014681 + PTC-1C COSM1162316 c.534T>G p.G178G Substitution - coding silent 3:49012068-49012068 + TCGA-J9-A52C-01 COSM4877055 c.697G>A p.V233I Substitution - Missense 3:49012231-49012231 + TCGA-AD-6964-01 COSM5131712 c.2605C>T p.R869W Substitution - Missense 3:49014049-49014049 + EGC8 COSM2849210 c.2414_2415insG p.R808fs*3 Insertion - Frameshift 3:49013948-49013949 + TCGA-C8-A26Y-01 COSM3824112 c.3304G>C p.E1102Q Substitution - Missense 3:49015226-49015226 + TCGA-AA-3663-01 COSM5101290 c.2015C>A p.P672H Substitution - Missense 3:49013459-49013459 + CHC892T COSM4797939 c.1144G>A p.E382K Substitution - Missense 3:49012678-49012678 + TCGA-AX-A0J1-01 COSM1045991 c.1014G>A p.S338S Substitution - coding silent 3:49012548-49012548 + TCGA-AX-A0J1-01 COSM296143 c.2296G>A p.A766T Substitution - Missense 3:49013830-49013830 + ESCC_BICR_017T COSM5442917 c.1147C>T p.Q383* Substitution - Nonsense 3:49012681-49012681 + 2_PRE-TREATMENT COSM1722946 c.2365G>A p.G789S Substitution - Missense 3:49013899-49013899 + PD4100a COSM165580 c.2674C>A p.L892I Substitution - Missense 3:49014390-49014390 + TCGA-E2-A15F-01 COSM3824110 c.1488C>T p.C496C Substitution - coding silent 3:49013022-49013022 + PTC-515C COSM1162316 c.534T>G p.G178G Substitution - coding silent 3:49012068-49012068 + I2L-P7-Tumor-Organoid COSM2849210 c.2414_2415insG p.R808fs*3 Insertion - Frameshift 3:49013948-49013949 + TCGA-AA-3663-01 COSM2849210 c.2414_2415insG p.R808fs*3 Insertion - Frameshift 3:49013948-49013949 + TCGA-JX-A3Q0-01 COSM4824057 c.1396G>C p.E466Q Substitution - Missense 3:49012930-49012930 + pfg103T COSM4754749 c.518C>A p.P173H Substitution - Missense 3:49011962-49011962 + TCGA-DU-6405-01 COSM3974459 c.725G>A p.R242Q Substitution - Missense 3:49012259-49012259 + TCGA-AD-6964-01 COSM1423856 c.2515C>T p.R839W Substitution - Missense 3:49014049-49014049 + TCGA-C5-A7CJ-01 COSM4821400 c.1095G>A p.L365L Substitution - coding silent 3:49012539-49012539 + QC2-39-T2 COSM5655468 c.2884G>T p.D962Y Substitution - Missense 3:49014700-49014700 + CHC892T COSM4797939 c.1144G>A p.E382K Substitution - Missense 3:49012678-49012678 + TCGA-EK-A3GK-01 COSM4853810 c.241G>C p.E81Q Substitution - Missense 3:49011775-49011775 + TCGA-G4-6320-01 COSM5177520 c.1749T>C p.A583A Substitution - coding silent 3:49013193-49013193 + TCGA-BH-A0HF-01 COSM5217356 c.191-10C>T p.? Unknown 3:49011625-49011625 + PTC-6C COSM1162316 c.534T>G p.G178G Substitution - coding silent 3:49012068-49012068 + B70-Tumor COSM1162316 c.534T>G p.G178G Substitution - coding silent 3:49012068-49012068 + ESCC_BICR_017T COSM5442916 c.1237C>T p.Q413* Substitution - Nonsense 3:49012681-49012681 + I2L-P7-Tumor-Organoid COSM5355575 c.1764T>C p.D588D Substitution - coding silent 3:49013298-49013298 + OSCC-GB_01060111 COSM4882725 c.2306C>A p.A769D Substitution - Missense 3:49013840-49013840 + CSCC-27-T COSM4485879 c.2898C>T p.P966P Substitution - coding silent 3:49014714-49014714 + RMS110_ COSM4987283 c.1657G>A p.A553T Substitution - Missense 3:49013191-49013191 + RK233_C01 COSM4778500 c.664G>C p.A222P Substitution - Missense 3:49012108-49012108 + EGC3 COSM5059793 c.2505G>A p.A835A Substitution - coding silent 3:49013949-49013949 + HCC95T COSM1617740 c.1228A>G p.M410V Substitution - Missense 3:49012762-49012762 + BD36T COSM5509124 c.1216G>A p.G406R Substitution - Missense 3:49012750-49012750 + TCGA-CM-5348-01 COSM5157444 c.764C>T p.A255V Substitution - Missense 3:49012208-49012208 + TCGA-AA-3663-01 COSM5101291 c.2302G>A p.D768N Substitution - Missense 3:49013746-49013746 + SC_9097 COSM5551334 c.2063G>A p.C688Y Substitution - Missense 3:49013597-49013597 + TCGA-G4-6302-01 COSM5174968 c.202G>A p.D68N Substitution - Missense 3:49011646-49011646 + MOLT-4 COSM1670189 c.2573C>G p.P858R Substitution - Missense 3:49014107-49014107 + TCGA-D7-6527-01 COSM4118369 c.3109G>T p.E1037* Substitution - Nonsense 3:49015031-49015031 + pfg030T COSM4754753 c.1760G>A p.R587H Substitution - Missense 3:49013294-49013294 + TCGA-DR-A0ZM-01 COSM460780 c.171G>A p.Q57Q Substitution - coding silent 3:49011705-49011705 + TCGA-C8-A26Y-01 COSM5222013 c.3394G>C p.E1132Q Substitution - Missense 3:49015226-49015226 + LN229 COSM5712158 c.624T>G p.G208G Substitution - coding silent 3:49012068-49012068 + TCGA-AP-A059-01 COSM1045990 c.988C>T p.R330C Substitution - Missense 3:49012522-49012522 + SC_9090 COSM5571714 c.1788A>T p.V596V Substitution - coding silent 3:49013322-49013322 + TCGA-EE-A2GC-06 COSM3595150 c.335T>G p.L112R Substitution - Missense 3:49011869-49011869 + CHC1731T COSM4792119 c.2508G>T p.S836S Substitution - coding silent 3:49014042-49014042 + 587284 COSM1232619 c.1795G>A p.G599S Substitution - Missense 3:49013329-49013329 + LN229 COSM1162316 c.534T>G p.G178G Substitution - coding silent 3:49012068-49012068 + T3090 COSM4741009 c.2505delG p.R838fs*33 Deletion - Frameshift 3:49013949-49013949 + PD13622a COSM5780173 c.1752C>T p.T584T Substitution - coding silent 3:49013286-49013286 + TCGA-G2-A2EO-01 COSM1309244 c.495G>A p.L165L Substitution - coding silent 3:49012029-49012029 + PD13622a COSM5780172 c.1842C>T p.T614T Substitution - coding silent 3:49013286-49013286 + TCGA-EA-A50E-01 COSM4822212 c.243G>C p.R81R Substitution - coding silent 3:49011687-49011687 + TCGA-D3-A3C7-06 COSM3595158 c.2390G>A p.G797D Substitution - Missense 3:49013924-49013924 + ESCC_BICR_049T COSM5433335 c.1020C>T p.L340L Substitution - coding silent 3:49012554-49012554 + 2341098 COSM4771618 c.2651T>G p.V884G Substitution - Missense 3:49014095-49014095 + HCT15 COSM2849197 c.1774T>C p.Y592H Substitution - Missense 3:49013308-49013308 + ODG6 COSM5731530 c.1314G>C p.V438V Substitution - coding silent 3:49012848-49012848 + TCGA-EE-A3AF-06 COSM3595153 c.868C>T p.L290F Substitution - Missense 3:49012402-49012402 + ICGC_MB78 COSM3765088 c.2024A>G p.K675R Substitution - Missense 3:49013558-49013558 + T3444 COSM296143 c.2296G>A p.A766T Substitution - Missense 3:49013830-49013830 + CHC1763T COSM4789739 c.3184C>A p.L1062M Substitution - Missense 3:49015016-49015016 + LIM2405 COSM4613606 c.2347_2348insG p.I785fs*26 Insertion - Frameshift 3:49013881-49013882 + TCGA-EI-6917-01 COSM5101291 c.2302G>A p.D768N Substitution - Missense 3:49013746-49013746 + TCGA-D9-A3Z1-06 COSM3595154 c.1018C>T p.L340F Substitution - Missense 3:49012552-49012552 + PA055 COSM1162316 c.534T>G p.G178G Substitution - coding silent 3:49012068-49012068 + 1604875 COSM141043 c.1555C>T p.P519S Substitution - Missense 3:49013089-49013089 + TCGA-22-4599-01 COSM731296 c.1303C>T p.P435S Substitution - Missense 3:49012837-49012837 + TCGA-EI-6917-01 COSM1423853 c.2212G>A p.D738N Substitution - Missense 3:49013746-49013746 + TP_2054 COSM5565414 c.869G>A p.R290H Substitution - Missense 3:49012313-49012313 + 61 COSM5736608 c.998C>T p.A333V Substitution - Missense 3:49012442-49012442 + TCGA-AP-A059-01 COSM1046000 c.3031G>A p.V1011M Substitution - Missense 3:49014953-49014953 + TCGA-C5-A7CJ-01 COSM4821401 c.1005G>A p.L335L Substitution - coding silent 3:49012539-49012539 + CHC1763T COSM4789740 c.3094C>A p.L1032M Substitution - Missense 3:49015016-49015016 + TCGA-AA-A01P-01 COSM1423855 c.2415delG p.R808fs*33 Deletion - Frameshift 3:49013949-49013949 + BD41T COSM5497459 c.37C>T p.R13* Substitution - Nonsense 3:49007378-49007378 + TCGA-C5-A7CJ-01 COSM4821391 c.1532G>A p.R511H Substitution - Missense 3:49012976-49012976 + ODG6 COSM5731529 c.1404G>C p.V468V Substitution - coding silent 3:49012848-49012848 + TCGA-AA-3866-01 COSM296143 c.2296G>A p.A766T Substitution - Missense 3:49013830-49013830 + TCGA-23-1114-01 COSM1328160 c.3366A>C p.*1122C Nonstop extension 3:49015288-49015288 + CHC1763T COSM4789740 c.3094C>A p.L1032M Substitution - Missense 3:49015016-49015016 + TCGA-BR-8486-01 COSM4118367 c.2766G>A p.E922E Substitution - coding silent 3:49014482-49014482 + EGC8 COSM5059792 c.2504_2505insG p.R838fs*3 Insertion - Frameshift 3:49013948-49013949 + ESCC_34 COSM5628477 c.434T>G p.M145R Substitution - Missense 3:49011878-49011878 + BD36T COSM5509123 c.1306G>A p.G436R Substitution - Missense 3:49012750-49012750 + TCGA-D5-6930-01 COSM5166494 c.2414C>T p.A805V Substitution - Missense 3:49013948-49013948 + HCC11T COSM131300 c.505G>T p.A169S Substitution - Missense 3:49012039-49012039 + SC_9100 COSM5572000 c.2752G>A p.V918I Substitution - Missense 3:49014289-49014289 + TCGA-C5-A7CJ-01 COSM4821351 c.2812G>A p.D938N Substitution - Missense 3:49014628-49014628 + 49M COSM5593972 c.2944G>A p.G982S Substitution - Missense 3:49014866-49014866 + TCGA-AA-3663-01 COSM1423858 c.2951A>C p.N984T Substitution - Missense 3:49014873-49014873 + 61 COSM5736609 c.908C>T p.A303V Substitution - Missense 3:49012442-49012442 + SC_9047 COSM5560128 c.2609T>C p.L870P Substitution - Missense 3:49014236-49014236 + TCGA-29-1763-01 COSM1328161 c.3316C>T p.R1106C Substitution - Missense 3:49015238-49015238 + I2L-P7-Tumor-Organoid COSM5355649 c.578T>C p.L193S Substitution - Missense 3:49012112-49012112 + TCGA-66-2793-01 COSM731295 c.2159G>C p.G720A Substitution - Missense 3:49013693-49013693 + TCGA-DK-A1A7-01 COSM419957 c.2614C>T p.Q872* Substitution - Nonsense 3:49014241-49014241 + pfg103T COSM4754750 c.428C>A p.P143H Substitution - Missense 3:49011962-49011962 + B80-Tumor COSM4005563 c.1109C>T p.A370V Substitution - Missense 3:49012643-49012643 + T2938 COSM4741007 c.24T>G p.V8V Substitution - coding silent 3:49007455-49007455 + TCGA-CM-5348-01 COSM1423850 c.674C>T p.A225V Substitution - Missense 3:49012208-49012208 + PD13763a COSM5773515 c.2374C>T p.Q792* Substitution - Nonsense 3:49013908-49013908 + TCGA-BR-4257-01 COSM296143 c.2296G>A p.A766T Substitution - Missense 3:49013830-49013830 + 387 COSM1045992 c.1207G>A p.E403K Substitution - Missense 3:49012741-49012741 + TCGA-D9-A6EC-06 COSM4403709 c.2288C>T p.S763L Substitution - Missense 3:49013822-49013822 + PD13763a COSM5773514 c.2464C>T p.Q822* Substitution - Nonsense 3:49013908-49013908 + Br27P COSM40764 c.1170C>T p.F390F Substitution - coding silent 3:49012704-49012704 + 587318 COSM1232617 c.3164G>A p.S1055N Substitution - Missense 3:49015086-49015086 + TCGA-B5-A11E-01 COSM1046002 c.3237C>T p.T1079T Substitution - coding silent 3:49015159-49015159 + TCGA-BH-A0HF-01 COSM3824105 c.101-10C>T p.? Unknown 3:49011625-49011625 + TCGA-FD-A3SL-01 COSM3775137 c.2044T>A p.Y682N Substitution - Missense 3:49013578-49013578 + TCGA-EE-A3JI-06 COSM3595160 c.2977G>T p.E993* Substitution - Nonsense 3:49014899-49014899 + LS411 COSM4614528 c.52_54delCTT p.L19delL Deletion - In frame 3:49007393-49007395 + TCGA-BR-7707-01 COSM1642290 c.1126G>A p.V376I Substitution - Missense 3:49012660-49012660 + TCGA-24-1844-01 COSM1328162 c.2866G>C p.V956L Substitution - Missense 3:49014682-49014682 + HCC009T COSM5819876 c.125A>G p.Y42C Substitution - Missense 3:49011659-49011659 + TCGA-AA-3663-01 COSM5829723 c.3041A>C p.N1014T Substitution - Missense 3:49014873-49014873 + pfg068T COSM4754754 c.2452C>T p.P818S Substitution - Missense 3:49013896-49013896 + TCGA-B5-A11E-01 COSM1046001 c.3116C>A p.S1039Y Substitution - Missense 3:49015038-49015038 + TP_2054 COSM5558247 c.2115G>A p.K705K Substitution - coding silent 3:49013559-49013559 + TCGA-DK-A1AC-01 COSM1309245 c.1510G>A p.D504N Substitution - Missense 3:49013044-49013044 + ESCC_BICR_049T COSM5433334 c.1110C>T p.L370L Substitution - coding silent 3:49012554-49012554 + CHC892T COSM4797938 c.1234G>A p.E412K Substitution - Missense 3:49012678-49012678 + T3202 COSM4741011 c.3043G>T p.E1015* Substitution - Nonsense 3:49014965-49014965 + sysucc-783T COSM5484629 c.2431G>A p.A811T Substitution - Missense 3:49013875-49013875 + PT37 COSM5918312 c.2092G>A p.G698S Substitution - Missense 3:49013626-49013626 + OSCC-GB_00960111 COSM4885583 c.1907G>T p.R636M Substitution - Missense 3:49013351-49013351 + SC_9047 COSM5560127 c.2699T>C p.L900P Substitution - Missense 3:49014236-49014236 + WSU-HN30 COSM4600957 c.203T>G p.F68C Substitution - Missense 3:49011737-49011737 + pfg030T COSM4754752 c.1850G>A p.R617H Substitution - Missense 3:49013294-49013294 + TCGA-HU-A4GP-01 COSM4118361 c.572C>T p.T191I Substitution - Missense 3:49012106-49012106 + TCGA-DK-A1AC-01 COSM1309243 c.41C>T p.S14L Substitution - Missense 3:49007472-49007472 + TCGA-23-2645-01 COSM731296 c.1303C>T p.P435S Substitution - Missense 3:49012837-49012837 + CHC1763T COSM4789739 c.3184C>A p.L1062M Substitution - Missense 3:49015016-49015016 + EGC3 COSM5059796 c.2460G>A p.P820P Substitution - coding silent 3:49013994-49013994 + Pat_59_B COSM5864766 c.1412C>T p.P471L Substitution - Missense 3:49012946-49012946 + 2341098 COSM4771619 c.2561T>G p.V854G Substitution - Missense 3:49014095-49014095 + 07-242A COSM305528 c.2949C>G p.I983M Substitution - Missense 3:49014871-49014871 + TCGA-A2-A0T5-01 COSM5834696 c.803T>G p.V268G Substitution - Missense 3:49012247-49012247 + TCGA-C5-A7CJ-01 COSM4821392 c.1442G>A p.R481H Substitution - Missense 3:49012976-49012976 + TCGA-EA-A50E-01 COSM4822213 c.153G>C p.R51R Substitution - coding silent 3:49011687-49011687 + 2000362 COSM1582590 c.708G>T p.W236C Substitution - Missense 3:49012242-49012242 + QC2-39-T2 COSM5655467 c.2974G>T p.D992Y Substitution - Missense 3:49014700-49014700 + TCGA-B5-A0K9-01 COSM1045997 c.1976C>T p.S659L Substitution - Missense 3:49013510-49013510 + PTC-70C COSM1162316 c.534T>G p.G178G Substitution - coding silent 3:49012068-49012068 + B21-Tumor COSM4005564 c.3083T>G p.L1028R Substitution - Missense 3:49015005-49015005 + TCGA-GM-A2DB-01 COSM3824108 c.1417G>C p.G473R Substitution - Missense 3:49012951-49012951 + TCGA-D3-A1Q5-06 COSM3595151 c.514G>A p.E172K Substitution - Missense 3:49012048-49012048 + OSCC-GB_00960111 COSM4885584 c.1817G>T p.R606M Substitution - Missense 3:49013351-49013351 + B66-Tumor COSM4005562 c.94T>G p.L32V Substitution - Missense 3:49007525-49007525 + Pat_32_B COSM5059792 c.2504_2505insG p.R838fs*3 Insertion - Frameshift 3:49013948-49013949 + PD13619a COSM5783606 c.2783+8G>T p.? Unknown 3:49014507-49014507 + TCGA-BR-6452-01 COSM4118362 c.575C>T p.A192V Substitution - Missense 3:49012109-49012109 + TCGA-D9-A6EC-06 COSM4403151 c.1954A>C p.N652H Substitution - Missense 3:49013488-49013488 + TCGA-B5-A11E-01 COSM1045988 c.568G>T p.A190S Substitution - Missense 3:49012102-49012102 + sysucc-1397T COSM5474625 c.664G>T p.G222* Substitution - Nonsense 3:49012198-49012198 + Detroit_562 COSM1162316 c.534T>G p.G178G Substitution - coding silent 3:49012068-49012068 + PT37 COSM5918311 c.2182G>A p.G728S Substitution - Missense 3:49013626-49013626 + TCGA-AA-3663-01 COSM1423852 c.1925C>A p.P642H Substitution - Missense 3:49013459-49013459 + TCGA-J9-A52C-01 COSM4877054 c.787G>A p.V263I Substitution - Missense 3:49012231-49012231 + CHC1731T COSM4792119 c.2508G>T p.S836S Substitution - coding silent 3:49014042-49014042 + P09-1580 COSM248328 c.1415C>T p.S472F Substitution - Missense 3:49012949-49012949 + TCGA-C5-A7CJ-01 COSM4821441 c.1012G>A p.E338K Substitution - Missense 3:49012456-49012456 + 49M COSM5593971 c.3034G>A p.G1012S Substitution - Missense 3:49014866-49014866 + SC_9096 COSM1045993 c.1408G>A p.A470T Substitution - Missense 3:49012942-49012942 + CHC1763T COSM4789732 c.949G>T p.G317C Substitution - Missense 3:49012483-49012483 + EGC3 COSM5059795 c.2550G>A p.P850P Substitution - coding silent 3:49013994-49013994 + PD4120a COSM165581 c.1575C>G p.L525L Substitution - coding silent 3:49013109-49013109 + TCGA-CH-5737-01 COSM1131411 c.2456C>A p.T819N Substitution - Missense 3:49013990-49013990 + PCSI_0476_Pa_P_526 COSM5031322 c.2218A>T p.T740S Substitution - Missense 3:49013752-49013752 + ESCC_34 COSM5628478 c.344T>G p.M115R Substitution - Missense 3:49011878-49011878 + 824_T COSM3945544 c.2667-9G>A p.? Unknown 3:49014374-49014374 + ESO-114 COSM1270413 c.967C>T p.R323W Substitution - Missense 3:49012501-49012501 + TCGA-FW-A3R5-06 COSM3916249 c.276C>T p.L92L Substitution - coding silent 3:49011810-49011810 + BRC41 COSM5025948 c.2607A>G p.E869E Substitution - coding silent 3:49014234-49014234 + YURAY COSM5399571 c.2865T>G p.T955T Substitution - coding silent 3:49014681-49014681 + TCGA-CK-4951-01 COSM296143 c.2296G>A p.A766T Substitution - Missense 3:49013830-49013830 + TCGA-A2-A0T5-01 COSM3824106 c.713T>G p.V238G Substitution - Missense 3:49012247-49012247 + TCGA-JX-A3Q0-01 COSM4824056 c.1486G>C p.E496Q Substitution - Missense 3:49012930-49012930 + TCGA-C5-A7CJ-01 COSM4821439 c.1014G>A p.E338E Substitution - coding silent 3:49012458-49012458 + TCGA-CM-4746-01 COSM1423857 c.2588T>C p.M863T Substitution - Missense 3:49014215-49014215 + C135 COSM4618345 c.505G>A p.A169T Substitution - Missense 3:49012039-49012039 + TCGA-E2-A15F-01 COSM5228277 c.1577G>A p.C526Y Substitution - Missense 3:49013021-49013021 + BD72T COSM5511897 c.927G>A p.R309R Substitution - coding silent 3:49012461-49012461 + 2293776 COSM4609786 c.3307_3308ins52 p.F1103fs*13 Insertion - Frameshift 3:49015229-49015230 + ACINAR01 COSM1734740 c.2038A>G p.M680V Substitution - Missense 3:49013572-49013572 + TCGA-DK-A3WW-01 COSM3775136 c.1246C>T p.R416C Substitution - Missense 3:49012780-49012780 + SC_9090 COSM5571713 c.1878A>T p.V626V Substitution - coding silent 3:49013322-49013322 + TCGA-E2-A15F-01 COSM3824109 c.1487G>A p.C496Y Substitution - Missense 3:49013021-49013021 + SC_9096 COSM5550050 c.1498G>A p.A500T Substitution - Missense 3:49012942-49012942 + TCGA-AY-A71X-01 COSM5137417 c.79G>T p.V27L Substitution - Missense 3:49007510-49007510 + TP_2054 COSM5565415 c.779G>A p.R260H Substitution - Missense 3:49012313-49012313 + RKO COSM4648710 c.2555G>A p.R852Q Substitution - Missense 3:49014089-49014089 + TCGA-C5-A7CJ-01 COSM4821442 c.922G>A p.E308K Substitution - Missense 3:49012456-49012456 + pfg008T COSM1642290 c.1126G>A p.V376I Substitution - Missense 3:49012660-49012660 + TCGA-B5-A11H-01 COSM1045994 c.1528G>A p.D510N Substitution - Missense 3:49013062-49013062 + TCGA-AC-A23H-01 COSM3824111 c.2674C>G p.L892V Substitution - Missense 3:49014390-49014390 + TCGA-DK-A3IL-01 COSM1309246 c.2617C>T p.P873S Substitution - Missense 3:49014244-49014244 + 587284 COSM1232618 c.1612G>A p.A538T Substitution - Missense 3:49013146-49013146 + RK233_C01 COSM4778501 c.574G>C p.A192P Substitution - Missense 3:49012108-49012108 + TCGA-BS-A0UV-01 COSM1045993 c.1408G>A p.A470T Substitution - Missense 3:49012942-49012942 + TCGA-AP-A0LM-01 COSM1045999 c.2892G>A p.G964G Substitution - coding silent 3:49014708-49014708 + TCGA-A8-A06Y-01 COSM5059792 c.2504_2505insG p.R838fs*3 Insertion - Frameshift 3:49013948-49013949 + TCGA-A8-A06Y-01 COSM2849210 c.2414_2415insG p.R808fs*3 Insertion - Frameshift 3:49013948-49013949 + Pat_32_B COSM2849210 c.2414_2415insG p.R808fs*3 Insertion - Frameshift 3:49013948-49013949 + TCGA-A6-5665-01 COSM5090131 c.2061C>T p.G687G Substitution - coding silent 3:49013595-49013595 + TCGA-AC-A23H-01 COSM3824107 c.747G>A p.Q249Q Substitution - coding silent 3:49012281-49012281 + TCGA-IR-A3LK-01 COSM4817154 c.2466C>T p.P822P Substitution - coding silent 3:49014000-49014000 + TCGA-D3-A1Q6-06 COSM3595155 c.1215C>T p.F405F Substitution - coding silent 3:49012749-49012749 + T3202 COSM4741010 c.3133G>T p.E1045* Substitution - Nonsense 3:49014965-49014965 + TCGA-C5-A7CJ-01 COSM4821440 c.924G>A p.E308E Substitution - coding silent 3:49012458-49012458 + CHC1731T COSM4792118 c.2598G>T p.S866S Substitution - coding silent 3:49014042-49014042 + Pat_59_B COSM5864765 c.1502C>T p.P501L Substitution - Missense 3:49012946-49012946 + NB2181 COSM1423853 c.2212G>A p.D738N Substitution - Missense 3:49013746-49013746 + CHC1763T COSM4789731 c.1039G>T p.G347C Substitution - Missense 3:49012483-49012483 + TCGA-BS-A0UV-01 COSM1045995 c.1831C>T p.R611* Substitution - Nonsense 3:49013365-49013365 + TCGA-D7-8576-01 COSM4118363 c.761G>A p.C254Y Substitution - Missense 3:49012295-49012295 + SNUH_G09_S1 COSM731296 c.1303C>T p.P435S Substitution - Missense 3:49012837-49012837 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.654815 3p21.31 606031

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Synonymous p.G364G c.1092A>C 3 49049969 LUAD A G Missense p.K705R c.2114A>G 3 49050991 MB A G Synonymous p.E899E c.2697A>G 3 49051667 BRCA CAAGGTTGTCCCCATCAACACTCCAACTG - Frameshift p.K448Cfs*22 c.1342_1370delAAGGTTGTCCCCATCAACACTCCAACTGC 3 49050218 BRCA C A Missense p.L922I c.2764C>A 3 49051823 BRCA C A Missense p.T849N c.2546C>A 3 49051423 PRAD C G Missense p.C607W c.1821C>G 3 49050698 LUAD C G Missense p.H597Q c.1791C>G 3 49050668 HNSC C G Synonymous p.L555L c.1665C>G 3 49050542 BRCA C T Missense p.L1081F c.3241C>T 3 49052506 HNSC C T Missense p.L320F c.958C>T 3 49049835 CM C T Missense p.P465S c.1393C>T 3 49050270 LUSC C T Missense p.P855S c.2563C>T 3 49051440 CM C T Missense p.P903S c.2707C>T 3 49051677 BLCA C T Missense p.R1022C c.3064C>T 3 49052329 LUAD C T Missense p.S498L c.1493C>T 3 49050370 BLCA C T Missense p.S689L c.2066C>T 3 49050943 UCEC C T Missense p.T256I c.767C>T 3 49049644 OV C T Missense p.T603I c.1808C>T 3 49050685 CM C T Nonsense p.Q902* c.2704C>T 3 49051674 BLCA C T Synonymous p.D147D c.441C>T 3 49049318 CM C T Synonymous p.F420F c.1260C>T 3 49050137 GBM C T Synonymous p.F435F c.1305C>T 3 49050182 CM C T Synonymous p.F662F c.1986C>T 3 49050863 CM G A Missense p.A796T c.2386G>A 3 49051263 COREAD G A Missense p.A796T c.2386G>A 3 49051263 STAD G A Missense p.D540N c.1618G>A 3 49050495 UCEC G A Missense p.E202K c.604G>A 3 49049481 CM G A Missense p.G746R c.2236G>A 3 49051113 CM G A Missense p.G827D c.2480G>A 3 49051357 CM G A Missense p.M755I c.2265G>A 3 49051142 UCEC G A Missense p.R272Q c.815G>A 3 49049692 LGG G A Missense p.R81Q c.242G>A 3 49049119 STAD G A Missense p.S262N c.785G>A 3 49049662 CM G A Missense p.V406I c.1216G>A 3 49050093 STAD G A Nonsense p.W39* c.116G>A 3 49044890 STAD G A Synonymous p.E1045E c.3135G>A 3 49052400 STAD G A Synonymous p.L195L c.585G>A 3 49049462 BLCA G A Synonymous p.L745L c.2235G>A 3 49051112 CM G C Missense p.D225H c.673G>C 3 49049550 LUAD G C Missense p.E259Q c.775G>C 3 49049652 HNSC G C Missense p.G750A c.2249G>C 3 49051126 LUSC - G Frameshift p.I235Nfs*82 c.701dupG 3 49049578 LUAD G - Frameshift p.R838Gfs*33 c.2511delG 3 49051382 STAD G T Missense p.R153L c.458G>T 3 49049335 UCEC G T Missense p.R565L c.1694G>T 3 49050571 CM G T Nonsense p.E1023* c.3067G>T 3 49052332 CM G T Nonsense p.E1067* c.3199G>T 3 49052464 STAD G T Nonsense p.E952* c.2854G>T 3 49051913 CM T A Missense p.H861Q c.2583T>A 3 49051460 STAD T C Missense p.V100A c.299T>C 3 49049176 STAD T G Missense p.C783W c.2349T>G 3 49051226 CM T G Missense p.L142R c.425T>G 3 49049302 CM