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 12 112600907 112600907 + Silent SNP A A C TCGA-OR-A5K9-01A-11D-A29I-10 TCGA-OR-A5K9-11A-11D-A29L-10 g.chr12:112600907A>C c.11793T>G c.(11791-11793)ggT>ggG p.G3931G ACC 12 112690234 112690234 + Silent SNP G G T TCGA-OR-A5JP-01A-11D-A29I-10 TCGA-OR-A5JP-10A-01D-A29L-10 g.chr12:112690234G>T c.2280C>A c.(2278-2280)cgC>cgA p.R760R ACC 12 112701980 112701980 + Missense_Mutation SNP G G C TCGA-OR-A5KB-01A-11D-A30A-10 TCGA-OR-A5KB-11A-11D-A30A-10 g.chr12:112701980G>C c.1360C>G c.(1360-1362)Cag>Gag p.Q454E BLCA 12 112600324 112600324 + Missense_Mutation SNP G G A TCGA-4Z-AA81-01A-11D-A391-08 TCGA-4Z-AA81-10A-01D-A394-08 g.chr12:112600324G>A c.11858C>T c.(11857-11859)tCc>tTc p.S3953F BLCA 12 112605677 112605677 + Nonsense_Mutation SNP G G A TCGA-BT-A20N-01A-11D-A14W-08 TCGA-BT-A20N-11A-11D-A14W-08 g.chr12:112605677G>A c.10987C>T c.(10987-10989)Cag>Tag p.Q3663* BLCA 12 112607445 112607445 + Missense_Mutation SNP C C T TCGA-FD-A62P-01A-32D-A30E-08 TCGA-FD-A62P-10A-01D-A30H-08 g.chr12:112607445C>T c.10804G>A c.(10804-10806)Gaa>Aaa p.E3602K BLCA 12 112608210 112608210 + Silent SNP C C T TCGA-S5-A6DX-01A-11D-A31L-08 TCGA-S5-A6DX-10A-01D-A31J-08 g.chr12:112608210C>T c.10713G>A c.(10711-10713)ctG>ctA p.L3571L BLCA 12 112608964 112608964 + Silent SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 g.chr12:112608964G>A c.10623C>T c.(10621-10623)ccC>ccT p.P3541P BLCA 12 112609068 112609068 + Splice_Site SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 g.chr12:112609068C>T c.e67-1 BLCA 12 112610476 112610476 + Splice_Site SNP C C G TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 g.chr12:112610476C>G c.10518G>C c.(10516-10518)ctG>ctC p.L3506L BLCA 12 112610617 112610617 + Nonsense_Mutation SNP C C T TCGA-SY-A9G5-01A-11D-A38G-08 TCGA-SY-A9G5-10A-01D-A38J-08 g.chr12:112610617C>T c.10377G>A c.(10375-10377)tgG>tgA p.W3459* BLCA 12 112616811 112616811 + Missense_Mutation SNP G G C TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 g.chr12:112616811G>C c.10021C>G c.(10021-10023)Ccc>Gcc p.P3341A BLCA 12 112616995 112616995 + Missense_Mutation SNP C C G TCGA-DK-A3X2-01A-11D-A22Z-08 TCGA-DK-A3X2-10A-01D-A22Z-08 g.chr12:112616995C>G c.9928G>C c.(9928-9930)Gag>Cag p.E3310Q BLCA 12 112617073 112617073 + Missense_Mutation SNP C C G TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 g.chr12:112617073C>G c.9850G>C c.(9850-9852)Gag>Cag p.E3284Q BLCA 12 112622067 112622067 + Missense_Mutation SNP C C T TCGA-XF-A9T5-01A-11D-A42E-08 TCGA-XF-A9T5-10A-01D-A42H-08 g.chr12:112622067C>T c.9437G>A c.(9436-9438)gGc>gAc p.G3146D BLCA 12 112622708 112622708 + Silent SNP G G A TCGA-UY-A9PF-01A-11D-A38G-08 TCGA-UY-A9PF-10A-01D-A38J-08 g.chr12:112622708G>A c.8796C>T c.(8794-8796)ttC>ttT p.F2932F BLCA 12 112623205 112623205 + Missense_Mutation SNP C C T TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr12:112623205C>T c.8299G>A c.(8299-8301)Gag>Aag p.E2767K BLCA 12 112623239 112623239 + Silent SNP G G A TCGA-GU-A767-01A-11D-A32B-08 TCGA-GU-A767-10A-01D-A329-08 g.chr12:112623239G>A c.8265C>T c.(8263-8265)ctC>ctT p.L2755L BLCA 12 112630478 112630478 + Missense_Mutation SNP C C A TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 g.chr12:112630478C>A c.7912G>T c.(7912-7914)Gcc>Tcc p.A2638S BLCA 12 112630890 112630890 + Missense_Mutation SNP C C G TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 g.chr12:112630890C>G c.7795G>C c.(7795-7797)Gaa>Caa p.E2599Q BLCA 12 112638499 112638499 + Missense_Mutation SNP C C T TCGA-GU-A762-01A-11D-A339-08 TCGA-GU-A762-10A-01D-A339-08 g.chr12:112638499C>T c.7244G>A c.(7243-7245)cGa>cAa p.R2415Q BLCA 12 112642326 112642326 + Missense_Mutation SNP C C T TCGA-ZF-A9R4-01A-11D-A38G-08 TCGA-ZF-A9R4-10A-01D-A38J-08 g.chr12:112642326C>T c.6967G>A c.(6967-6969)Gaa>Aaa p.E2323K BLCA 12 112654629 112654629 + Missense_Mutation SNP C C T TCGA-DK-AA6R-01A-11D-A42E-08 TCGA-DK-AA6R-10A-01D-A42H-08 g.chr12:112654629C>T c.6067G>A c.(6067-6069)Gag>Aag p.E2023K BLCA 12 112664513 112664513 + Missense_Mutation SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 g.chr12:112664513C>G c.5638G>C c.(5638-5640)Gaa>Caa p.E1880Q BLCA 12 112666449 112666449 + Splice_Site SNP A A G TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 g.chr12:112666449A>G c.e41+1 BLCA 12 112666519 112666519 + Missense_Mutation SNP T T C TCGA-ZF-A9R9-01A-11D-A38G-08 TCGA-ZF-A9R9-10A-01D-A38J-08 g.chr12:112666519T>C c.5350A>G c.(5350-5352)Aga>Gga p.R1784G BLCA 12 112667636 112667636 + Missense_Mutation SNP C C G TCGA-ZF-A9RF-01A-11D-A38G-08 TCGA-ZF-A9RF-10A-01D-A38J-08 g.chr12:112667636C>G c.5119G>C c.(5119-5121)Gaa>Caa p.E1707Q BLCA 12 112670808 112670808 + Splice_Site SNP C C G TCGA-K4-A3WV-01A-11D-A22Z-08 TCGA-K4-A3WV-10A-01D-A22Z-08 g.chr12:112670808C>G c.4731G>C c.(4729-4731)aaG>aaC p.K1577N BLCA 12 112673537 112673537 + Silent SNP G G T TCGA-FD-A6TC-01A-21D-A339-08 TCGA-FD-A6TC-10A-21D-A339-08 g.chr12:112673537G>T c.4230C>A c.(4228-4230)ctC>ctA p.L1410L BLCA 12 112674822 112674822 + Missense_Mutation SNP C C G TCGA-FD-A6TC-01A-21D-A339-08 TCGA-FD-A6TC-10A-21D-A339-08 g.chr12:112674822C>G c.4105G>C c.(4105-4107)Gag>Cag p.E1369Q BLCA 12 112674837 112674837 + Missense_Mutation SNP G G C TCGA-FD-A6TC-01A-21D-A339-08 TCGA-FD-A6TC-10A-21D-A339-08 g.chr12:112674837G>C c.4090C>G c.(4090-4092)Ctt>Gtt p.L1364V BLCA 12 112677687 112677687 + Silent SNP G G A TCGA-XF-A9T0-01A-11D-A391-08 TCGA-XF-A9T0-10A-01D-A394-08 g.chr12:112677687G>A c.3837C>T c.(3835-3837)acC>acT p.T1279T BLCA 12 112677704 112677704 + Missense_Mutation SNP A A T TCGA-PQ-A6FI-01A-11D-A31L-08 TCGA-PQ-A6FI-10A-01D-A31J-08 g.chr12:112677704A>T c.3820T>A c.(3820-3822)Tgt>Agt p.C1274S BLCA 12 112681690 112681690 + Missense_Mutation SNP C C T TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 g.chr12:112681690C>T c.3371G>A c.(3370-3372)aGa>aAa p.R1124K BLCA 12 112684728 112684728 + Missense_Mutation SNP G G C TCGA-FD-A6TD-01A-51D-A339-08 TCGA-FD-A6TD-10A-21D-A339-08 g.chr12:112684728G>C c.3224C>G c.(3223-3225)tCt>tGt p.S1075C BLCA 12 112685315 112685315 + Missense_Mutation SNP C C T TCGA-DK-A1A6-01A-11D-A13W-08 TCGA-DK-A1A6-10A-01D-A13W-08 g.chr12:112685315C>T c.3022G>A c.(3022-3024)Gaa>Aaa p.E1008K BLCA 12 112688036 112688036 + Missense_Mutation SNP G G C TCGA-FD-A6TD-01A-51D-A339-08 TCGA-FD-A6TD-10A-21D-A339-08 g.chr12:112688036G>C c.2596C>G c.(2596-2598)Ctg>Gtg p.L866V BLCA 12 112694164 112694164 + Missense_Mutation SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 g.chr12:112694164C>G c.1991G>C c.(1990-1992)aGa>aCa p.R664T BLCA 12 112694185 112694185 + Missense_Mutation SNP C C A TCGA-BT-A2LA-01A-11D-A18F-08 TCGA-BT-A2LA-11A-11D-A18F-08 g.chr12:112694185C>A c.1970G>T c.(1969-1971)gGa>gTa p.G657V BLCA 12 112696955 112696955 + Silent SNP C C G TCGA-GC-A3RB-01A-12D-A21Z-08 TCGA-GC-A3RB-10A-01D-A21Z-08 g.chr12:112696955C>G c.1692G>C c.(1690-1692)ctG>ctC p.L564L BLCA 12 112696960 112696960 + Missense_Mutation SNP C C A TCGA-PQ-A6FI-01A-11D-A31L-08 TCGA-PQ-A6FI-10A-01D-A31J-08 g.chr12:112696960C>A c.1687G>T c.(1687-1689)Gcc>Tcc p.A563S BLCA 12 112699228 112699228 + Silent SNP T T C TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 g.chr12:112699228T>C c.1458A>G c.(1456-1458)ctA>ctG p.L486L BLCA 12 112707527 112707527 + Missense_Mutation SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 g.chr12:112707527C>T c.1006G>A c.(1006-1008)Gaa>Aaa p.E336K BLCA 12 112720937 112720937 + Missense_Mutation SNP T T C TCGA-GV-A3QI-01A-11D-A21Z-08 TCGA-GV-A3QI-10A-01D-A21Z-08 g.chr12:112720937T>C c.323A>G c.(322-324)aAc>aGc p.N108S BRCA 12 112600232 112600232 + Missense_Mutation SNP G G A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr12:112600232G>A c.11950C>T c.(11950-11952)Cgt>Tgt p.R3984C BRCA 12 112607429 112607429 + Missense_Mutation SNP C C G TCGA-A2-A0D0-01A-11W-A019-09 TCGA-A2-A0D0-10A-01W-A021-09 g.chr12:112607429C>G c.10820G>C c.(10819-10821)tGt>tCt p.C3607S BRCA 12 112621040 112621040 + Nonsense_Mutation SNP G G A TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr12:112621040G>A c.9544C>T c.(9544-9546)Cga>Tga p.R3182* BRCA 12 112622033 112622034 + Frame_Shift_Ins INS - - AA TCGA-A8-A07L-01A-11W-A019-09 TCGA-A8-A07L-10A-01W-A021-09 g.chr12:112622033_112622034insAA c.9470_9471insTT c.(9469-9471)cagfs p.Q3157fs BRCA 12 112622305 112622305 + Missense_Mutation SNP T T G TCGA-A2-A0T5-01A-21D-A099-09 TCGA-A2-A0T5-10A-01D-A099-09 g.chr12:112622305T>G c.9199A>C c.(9199-9201)Acc>Ccc p.T3067P BRCA 12 112622601 112622601 + Missense_Mutation SNP A A C TCGA-A2-A0T5-01A-21D-A099-09 TCGA-A2-A0T5-10A-01D-A099-09 g.chr12:112622601A>C c.8903T>G c.(8902-8904)gTg>gGg p.V2968G BRCA 12 112622620 112622620 + Missense_Mutation SNP C C T TCGA-A1-A0SD-01A-11D-A10Y-09 TCGA-A1-A0SD-10A-01D-A110-09 g.chr12:112622620C>T c.8884G>A c.(8884-8886)Gat>Aat p.D2962N BRCA 12 112623045 112623046 + Frame_Shift_Ins INS - - C TCGA-A2-A0CP-01A-11W-A050-09 TCGA-A2-A0CP-10A-01W-A055-09 g.chr12:112623045_112623046insC c.8458_8459insG c.(8458-8460)gcgfs p.A2820fs BRCA 12 112623045 112623046 + Frame_Shift_Ins INS - - C TCGA-A2-A0D2-01A-21W-A050-09 TCGA-A2-A0D2-10A-01W-A055-09 g.chr12:112623045_112623046insC c.8458_8459insG c.(8458-8460)gcgfs p.A2820fs BRCA 12 112623045 112623046 + Frame_Shift_Ins INS - - C TCGA-AO-A0J7-01A-11W-A050-09 TCGA-AO-A0J7-10A-01W-A055-09 g.chr12:112623045_112623046insC c.8458_8459insG c.(8458-8460)gcgfs p.A2820fs BRCA 12 112645729 112645729 + Missense_Mutation SNP C C G TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 g.chr12:112645729C>G c.6814G>C c.(6814-6816)Gaa>Caa p.E2272Q BRCA 12 112657218 112657218 + Frame_Shift_Del DEL G G - TCGA-E2-A15T-01A-11D-A10Y-09 TCGA-E2-A15T-10A-01D-A110-09 g.chr12:112657218delG c.5780delC c.(5779-5781)ccafs p.P1929fs BRCA 12 112664523 112664523 + Silent SNP T T C TCGA-GM-A4E0-01A-12D-A25Q-09 TCGA-GM-A4E0-10A-01D-A25Q-09 g.chr12:112664523T>C c.5628A>G c.(5626-5628)ttA>ttG p.L1876L BRCA 12 112666453 112666453 + Missense_Mutation SNP C C G TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr12:112666453C>G c.5416G>C c.(5416-5418)Gag>Cag p.E1806Q BRCA 12 112666532 112666532 + Silent SNP T T G TCGA-A2-A0T5-01A-21D-A099-09 TCGA-A2-A0T5-10A-01D-A099-09 g.chr12:112666532T>G c.5337A>C c.(5335-5337)ccA>ccC p.P1779P BRCA 12 112666532 112666532 + Silent SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr12:112666532T>G c.5337A>C c.(5335-5337)ccA>ccC p.P1779P BRCA 12 112677797 112677797 + Missense_Mutation SNP G G C TCGA-A8-A07R-01A-21W-A050-09 TCGA-A8-A07R-10B-01D-A047-09 g.chr12:112677797G>C c.3727C>G c.(3727-3729)Cag>Gag p.Q1243E BRCA 12 112685976 112685976 + Splice_Site SNP C C T TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr12:112685976C>T c.e26-1 BRCA 12 112686210 112686210 + Missense_Mutation SNP C C G TCGA-C8-A275-01A-21D-A16D-09 TCGA-C8-A275-10A-01D-A16D-09 g.chr12:112686210C>G c.2791G>C c.(2791-2793)Gaa>Caa p.E931Q BRCA 12 112687979 112687979 + Missense_Mutation SNP G G A TCGA-BH-A1ET-01A-11D-A135-09 TCGA-BH-A1ET-11B-23D-A135-09 g.chr12:112687979G>A c.2653C>T c.(2653-2655)Cgt>Tgt p.R885C BRCA 12 112691858 112691858 + Missense_Mutation SNP C C G TCGA-A8-A095-01A-11W-A019-09 TCGA-A8-A095-10A-01W-A021-09 g.chr12:112691858C>G c.2140G>C c.(2140-2142)Gac>Cac p.D714H BRCA 12 112701998 112701998 + Missense_Mutation SNP G G T TCGA-B6-A1KF-01A-11D-A13L-09 TCGA-B6-A1KF-10A-01W-A14R-09 g.chr12:112701998G>T c.1342C>A c.(1342-1344)Cgc>Agc p.R448S BRCA 12 112703012 112703012 + Silent SNP T T C TCGA-OL-A5D6-01A-21D-A27P-09 TCGA-OL-A5D6-10A-01D-A27P-09 g.chr12:112703012T>C c.1290A>G c.(1288-1290)aaA>aaG p.K430K BRCA 12 112707611 112707611 + Nonsense_Mutation SNP G G A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr12:112707611G>A c.922C>T c.(922-924)Cga>Tga p.R308* BRCA 12 112707652 112707652 + Splice_Site SNP A A G TCGA-A8-A07W-01A-11W-A019-09 TCGA-A8-A07W-10A-01W-A021-09 g.chr12:112707652A>G c.881T>C c.(880-882)gTg>gCg p.V294A BRCA 12 112708208 112708208 + Silent SNP C C T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr12:112708208C>T c.702G>A c.(700-702)gcG>gcA p.A234A BRCA 12 112720942 112720942 + Missense_Mutation SNP G G C TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr12:112720942G>C c.318C>G c.(316-318)atC>atG p.I106M BRCA 12 112743982 112743982 + Missense_Mutation SNP G G T TCGA-AC-A3BB-01A-21D-A19Y-09 TCGA-AC-A3BB-10A-01D-A19Y-09 g.chr12:112743982G>T c.39C>A c.(37-39)agC>agA p.S13R CESC 12 112602065 112602065 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 g.chr12:112602065G>A c.11283C>T c.(11281-11283)acC>acT p.T3761T CESC 12 112605159 112605159 + Missense_Mutation SNP C C A TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 g.chr12:112605159C>A c.11230G>T c.(11230-11232)Gat>Tat p.D3744Y CESC 12 112608139 112608139 + Missense_Mutation SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 g.chr12:112608139C>T c.10784G>A c.(10783-10785)gGa>gAa p.G3595E CESC 12 112617099 112617099 + Missense_Mutation SNP C C T TCGA-EK-A2R8-01A-21D-A18J-09 TCGA-EK-A2R8-10A-01D-A18J-09 g.chr12:112617099C>T c.9824G>A c.(9823-9825)aGa>aAa p.R3275K CESC 12 112622247 112622247 + Missense_Mutation SNP G G C TCGA-EA-A439-01A-11D-A243-09 TCGA-EA-A439-10A-01D-A243-09 g.chr12:112622247G>C c.9257C>G c.(9256-9258)tCt>tGt p.S3086C CESC 12 112670844 112670844 + Missense_Mutation SNP C C T TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 g.chr12:112670844C>T c.4695G>A c.(4693-4695)atG>atA p.M1565I CESC 12 112670864 112670864 + Missense_Mutation SNP G G T TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 g.chr12:112670864G>T c.4675C>A c.(4675-4677)Ctt>Att p.L1559I CESC 12 112681469 112681469 + Silent SNP C C T TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 g.chr12:112681469C>T c.3480G>A c.(3478-3480)ctG>ctA p.L1160L CESC 12 112686184 112686184 + Silent SNP T T C TCGA-IR-A3LI-01A-11D-A20U-09 TCGA-IR-A3LI-10A-01D-A20U-09 g.chr12:112686184T>C c.2817A>G c.(2815-2817)ttA>ttG p.L939L CESC 12 112720970 112720970 + Missense_Mutation SNP G G T TCGA-RA-A741-01A-11D-A33O-09 TCGA-RA-A741-10B-01D-A33O-09 g.chr12:112720970G>T c.290C>A c.(289-291)aCg>aAg p.T97K CESC 12 112752316 112752316 + De_novo_Start_OutOfFrame SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr12:112752316G>C CHOL 12 112605160 112605160 + Silent SNP C C A TCGA-3X-AAVC-01A-21D-A417-09 TCGA-3X-AAVC-10A-01D-A41A-09 g.chr12:112605160C>A c.11229G>T c.(11227-11229)gcG>gcT p.A3743A COAD 12 112600226 112600226 + Missense_Mutation SNP C C T TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr12:112600226C>T c.11956G>A c.(11956-11958)Gcc>Acc p.A3986T COAD 12 112600860 112600860 + Frame_Shift_Del DEL G G - TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr12:112600860delG c.11840delC c.(11839-11841)ccafs p.P3947fs COAD 12 112600860 112600861 + Frame_Shift_Del DEL GG GG - TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr12:112600860_112600861delGG c.11839_11840delCC c.(11839-11841)ccafs p.P3947fs COAD 12 112600903 112600903 + Missense_Mutation SNP C C T TCGA-CM-4746-01A-01D-1408-10 TCGA-CM-4746-10A-01D-1408-10 g.chr12:112600903C>T c.11797G>A c.(11797-11799)Gac>Aac p.D3933N COAD 12 112600941 112600941 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr12:112600941C>T c.11759G>A c.(11758-11760)cGc>cAc p.R3920H COAD 12 112601936 112601936 + Silent SNP G G A TCGA-F4-6703-01A-11D-1835-10 TCGA-F4-6703-10A-01D-1835-10 g.chr12:112601936G>A c.11412C>T c.(11410-11412)agC>agT p.S3804S COAD 12 112601946 112601946 + Missense_Mutation SNP T T G TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr12:112601946T>G c.11402A>C c.(11401-11403)gAg>gCg p.E3801A COAD 12 112607395 112607395 + Silent SNP C C T TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr12:112607395C>T c.10854G>A c.(10852-10854)tcG>tcA p.S3618S COAD 12 112608194 112608194 + Missense_Mutation SNP T T A TCGA-AD-6901-01A-11D-1924-10 TCGA-AD-6901-10A-01D-1924-10 g.chr12:112608194T>A c.10729A>T c.(10729-10731)Agg>Tgg p.R3577W COAD 12 112610509 112610509 + Silent SNP C C T TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr12:112610509C>T c.10485G>A c.(10483-10485)gcG>gcA p.A3495A COAD 12 112610661 112610661 + Missense_Mutation SNP C C T TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr12:112610661C>T c.10333G>A c.(10333-10335)Gca>Aca p.A3445T COAD 12 112620953 112620953 + Missense_Mutation SNP T T C TCGA-AA-A024-01A-02W-A00E-09 TCGA-AA-A024-10A-01W-A00E-09 g.chr12:112620953T>C c.9631A>G c.(9631-9633)Att>Gtt p.I3211V COAD 12 112620991 112620991 + Missense_Mutation SNP T T C TCGA-AA-3845-01A-01W-0995-10 TCGA-AA-3845-10A-01W-0995-10 g.chr12:112620991T>C c.9593A>G c.(9592-9594)gAt>gGt p.D3198G COAD 12 112620992 112620993 + Missense_Mutation DNP CC CC TA TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr12:112620992_112620993CC>TA c.9591_9592GG>TA c.(9589-9594)ttGGat>ttTAat p.3197_3198LD>FN COAD 12 112622027 112622027 + Silent SNP G G A TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr12:112622027G>A c.9477C>T c.(9475-9477)ctC>ctT p.L3159L COAD 12 112622214 112622214 + Missense_Mutation SNP G G C TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr12:112622214G>C c.9290C>G c.(9289-9291)cCc>cGc p.P3097R COAD 12 112622318 112622318 + Silent SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr12:112622318G>A c.9186C>T c.(9184-9186)agC>agT p.S3062S COAD 12 112622740 112622740 + Missense_Mutation SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr12:112622740C>T c.8764G>A c.(8764-8766)Gga>Aga p.G2922R COAD 12 112622798 112622798 + Silent SNP C C T TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr12:112622798C>T c.8706G>A c.(8704-8706)tcG>tcA p.S2902S COAD 12 112622834 112622834 + Silent SNP C C T TCGA-AA-3866-01A-01W-0995-10 TCGA-AA-3866-10A-01W-0995-10 g.chr12:112622834C>T c.8670G>A c.(8668-8670)agG>agA p.R2890R COAD 12 112622918 112622918 + Silent SNP G G A TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr12:112622918G>A c.8586C>T c.(8584-8586)acC>acT p.T2862T COAD 12 112623045 112623045 + Missense_Mutation SNP G G A TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chr12:112623045G>A c.8459C>T c.(8458-8460)gCg>gTg p.A2820V COAD 12 112623046 112623046 + Frame_Shift_Del DEL C C - TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr12:112623046delC c.8458delG c.(8458-8460)gcgfs p.A2822fs COAD 12 112623068 112623068 + Silent SNP G G A TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chr12:112623068G>A c.8436C>T c.(8434-8436)ggC>ggT p.G2812G COAD 12 112630465 112630465 + Missense_Mutation SNP G G A TCGA-F4-6460-01A-11D-1771-10 TCGA-F4-6460-10B-01D-1771-10 g.chr12:112630465G>A c.7925C>T c.(7924-7926)cCg>cTg p.P2642L COAD 12 112630518 112630518 + Silent SNP G G T TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr12:112630518G>T c.7872C>A c.(7870-7872)ggC>ggA p.G2624G COAD 12 112638500 112638500 + Nonsense_Mutation SNP G G A TCGA-AZ-6600-01A-11D-1771-10 TCGA-AZ-6600-11A-01D-1771-10 g.chr12:112638500G>A c.7243C>T c.(7243-7245)Cga>Tga p.R2415* COAD 12 112642296 112642296 + Nonsense_Mutation SNP G G A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr12:112642296G>A c.6997C>T c.(6997-6999)Cga>Tga p.R2333* COAD 12 112642326 112642326 + Missense_Mutation SNP C C T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr12:112642326C>T c.6967G>A c.(6967-6969)Gaa>Aaa p.E2323K COAD 12 112647856 112647856 + Silent SNP T T C TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr12:112647856T>C c.6564A>G c.(6562-6564)ccA>ccG p.P2188P COAD 12 112654162 112654162 + Missense_Mutation SNP C C T TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr12:112654162C>T c.6133G>A c.(6133-6135)Gtg>Atg p.V2045M COAD 12 112654695 112654695 + Missense_Mutation SNP C C T TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr12:112654695C>T c.6001G>A c.(6001-6003)Gtt>Att p.V2001I COAD 12 112667503 112667503 + Splice_Site SNP T T C TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr12:112667503T>C c.5252A>G c.(5251-5253)cAg>cGg p.Q1751R COAD 12 112668562 112668562 + Missense_Mutation SNP C C T TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr12:112668562C>T c.4999G>A c.(4999-5001)Gcc>Acc p.A1667T COAD 12 112668612 112668612 + Missense_Mutation SNP C C T TCGA-AA-A01P-01A-21W-A096-10 TCGA-AA-A01P-11A-11W-A096-10 g.chr12:112668612C>T c.4949G>A c.(4948-4950)cGt>cAt p.R1650H COAD 12 112668613 112668613 + Missense_Mutation SNP G G A TCGA-AA-3821-01A-01W-0995-10 TCGA-AA-3821-10A-01W-0995-10 g.chr12:112668613G>A c.4948C>T c.(4948-4950)Cgt>Tgt p.R1650C COAD 12 112669336 112669336 + Missense_Mutation SNP T T C TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr12:112669336T>C c.4915A>G c.(4915-4917)Agg>Ggg p.R1639G COAD 12 112669382 112669382 + Silent SNP G G T TCGA-AA-3986-01A-02W-0995-10 TCGA-AA-3986-10A-01W-0999-10 g.chr12:112669382G>T c.4869C>A c.(4867-4869)tcC>tcA p.S1623S COAD 12 112669476 112669476 + Missense_Mutation SNP A A G TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr12:112669476A>G c.4775T>C c.(4774-4776)cTg>cCg p.L1592P COAD 12 112670867 112670867 + Silent SNP G G T TCGA-CA-5254-01A-21D-1835-10 TCGA-CA-5254-10A-01D-1835-10 g.chr12:112670867G>T c.4672C>A c.(4672-4674)Cga>Aga p.R1558R COAD 12 112673415 112673415 + Missense_Mutation SNP C C A TCGA-AA-3681-01A-01W-0900-09 TCGA-AA-3681-10A-01W-0900-09 g.chr12:112673415C>A c.4352G>T c.(4351-4353)tGg>tTg p.W1451L COAD 12 112673554 112673554 + Missense_Mutation SNP C C A TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr12:112673554C>A c.4213G>T c.(4213-4215)Gct>Tct p.A1405S COAD 12 112686176 112686176 + Missense_Mutation SNP T T G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr12:112686176T>G c.2825A>C c.(2824-2826)aAa>aCa p.K942T COAD 12 112688090 112688090 + Nonsense_Mutation SNP C C A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr12:112688090C>A c.2542G>T c.(2542-2544)Gaa>Taa p.E848* COAD 12 112688090 112688090 + Nonsense_Mutation SNP C C A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr12:112688090C>A c.2542G>T c.(2542-2544)Gaa>Taa p.E848* COAD 12 112690349 112690349 + Frame_Shift_Del DEL G G - TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr12:112690349delG c.2165delC c.(2164-2166)cctfs p.P722fs COAD 12 112694180 112694180 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr12:112694180G>A c.1975C>T c.(1975-1977)Cgc>Tgc p.R659C COAD 12 112720923 112720923 + Missense_Mutation SNP C C T TCGA-AA-A02W-01A-01W-A00E-09 TCGA-AA-A02W-10A-01W-A00E-09 g.chr12:112720923C>T c.337G>A c.(337-339)Gat>Aat p.D113N COADREAD 12 112600226 112600226 + Missense_Mutation SNP C C T TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr12:112600226C>T c.11956G>A c.(11956-11958)Gcc>Acc p.A3986T COADREAD 12 112600860 112600860 + Frame_Shift_Del DEL G G - TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr12:112600860delG c.11840delC c.(11839-11841)ccafs p.P3947fs COADREAD 12 112600860 112600861 + Frame_Shift_Del DEL GG GG - TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr12:112600860_112600861delGG c.11839_11840delCC c.(11839-11841)ccafs p.P3947fs COADREAD 12 112600903 112600903 + Missense_Mutation SNP C C T TCGA-CM-4746-01A-01D-1408-10 TCGA-CM-4746-10A-01D-1408-10 g.chr12:112600903C>T c.11797G>A c.(11797-11799)Gac>Aac p.D3933N COADREAD 12 112600941 112600941 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr12:112600941C>T c.11759G>A c.(11758-11760)cGc>cAc p.R3920H COADREAD 12 112601455 112601455 + Missense_Mutation SNP C C T TCGA-AF-2687-01A-02D-1733-10 TCGA-AF-2687-10A-01D-1733-10 g.chr12:112601455C>T c.11522G>A c.(11521-11523)cGg>cAg p.R3841Q COADREAD 12 112601936 112601936 + Silent SNP G G A TCGA-F4-6703-01A-11D-1835-10 TCGA-F4-6703-10A-01D-1835-10 g.chr12:112601936G>A c.11412C>T c.(11410-11412)agC>agT p.S3804S COADREAD 12 112601946 112601946 + Missense_Mutation SNP T T G TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr12:112601946T>G c.11402A>C c.(11401-11403)gAg>gCg p.E3801A COADREAD 12 112607395 112607395 + Silent SNP C C T TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr12:112607395C>T c.10854G>A c.(10852-10854)tcG>tcA p.S3618S COADREAD 12 112608194 112608194 + Missense_Mutation SNP T T A TCGA-AD-6901-01A-11D-1924-10 TCGA-AD-6901-10A-01D-1924-10 g.chr12:112608194T>A c.10729A>T c.(10729-10731)Agg>Tgg p.R3577W COADREAD 12 112610509 112610509 + Silent SNP C C T TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr12:112610509C>T c.10485G>A c.(10483-10485)gcG>gcA p.A3495A COADREAD 12 112610661 112610661 + Missense_Mutation SNP C C T TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr12:112610661C>T c.10333G>A c.(10333-10335)Gca>Aca p.A3445T COADREAD 12 112617047 112617047 + Silent SNP G G C TCGA-AG-A026-01A-32W-A096-10 TCGA-AG-A026-10A-01W-A096-10 g.chr12:112617047G>C c.9876C>G c.(9874-9876)ggC>ggG p.G3292G COADREAD 12 112620953 112620953 + Missense_Mutation SNP T T C TCGA-AA-A024-01A-02W-A00E-09 TCGA-AA-A024-10A-01W-A00E-09 g.chr12:112620953T>C c.9631A>G c.(9631-9633)Att>Gtt p.I3211V COADREAD 12 112620991 112620991 + Missense_Mutation SNP T T C TCGA-AA-3845-01A-01W-0995-10 TCGA-AA-3845-10A-01W-0995-10 g.chr12:112620991T>C c.9593A>G c.(9592-9594)gAt>gGt p.D3198G COADREAD 12 112620992 112620993 + Missense_Mutation DNP CC CC TA TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr12:112620992_112620993CC>TA c.9591_9592GG>TA c.(9589-9594)ttGGat>ttTAat p.3197_3198LD>FN COADREAD 12 112622027 112622027 + Silent SNP G G A TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr12:112622027G>A c.9477C>T c.(9475-9477)ctC>ctT p.L3159L COADREAD 12 112622214 112622214 + Missense_Mutation SNP G G C TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr12:112622214G>C c.9290C>G c.(9289-9291)cCc>cGc p.P3097R COADREAD 12 112622318 112622318 + Silent SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr12:112622318G>A c.9186C>T c.(9184-9186)agC>agT p.S3062S COADREAD 12 112622740 112622740 + Missense_Mutation SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr12:112622740C>T c.8764G>A c.(8764-8766)Gga>Aga p.G2922R COADREAD 12 112622798 112622798 + Silent SNP C C T TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr12:112622798C>T c.8706G>A c.(8704-8706)tcG>tcA p.S2902S COADREAD 12 112622834 112622834 + Silent SNP C C T TCGA-AA-3866-01A-01W-0995-10 TCGA-AA-3866-10A-01W-0995-10 g.chr12:112622834C>T c.8670G>A c.(8668-8670)agG>agA p.R2890R COADREAD 12 112622918 112622918 + Silent SNP G G A TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr12:112622918G>A c.8586C>T c.(8584-8586)acC>acT p.T2862T COADREAD 12 112623045 112623045 + Missense_Mutation SNP G G A TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chr12:112623045G>A c.8459C>T c.(8458-8460)gCg>gTg p.A2820V COADREAD 12 112623046 112623046 + Frame_Shift_Del DEL C C - TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr12:112623046delC c.8458delG c.(8458-8460)gcgfs p.A2822fs COADREAD 12 112623068 112623068 + Silent SNP G G A TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chr12:112623068G>A c.8436C>T c.(8434-8436)ggC>ggT p.G2812G COADREAD 12 112630465 112630465 + Missense_Mutation SNP G G A TCGA-F4-6460-01A-11D-1771-10 TCGA-F4-6460-10B-01D-1771-10 g.chr12:112630465G>A c.7925C>T c.(7924-7926)cCg>cTg p.P2642L COADREAD 12 112630518 112630518 + Silent SNP G G T TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr12:112630518G>T c.7872C>A c.(7870-7872)ggC>ggA p.G2624G COADREAD 12 112638500 112638500 + Nonsense_Mutation SNP G G A TCGA-AZ-6600-01A-11D-1771-10 TCGA-AZ-6600-11A-01D-1771-10 g.chr12:112638500G>A c.7243C>T c.(7243-7245)Cga>Tga p.R2415* COADREAD 12 112638547 112638547 + Missense_Mutation SNP C C T TCGA-AG-A025-01A-01W-A00E-09 TCGA-AG-A025-10A-01W-A00E-09 g.chr12:112638547C>T c.7196G>A c.(7195-7197)cGa>cAa p.R2399Q COADREAD 12 112642296 112642296 + Nonsense_Mutation SNP G G A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr12:112642296G>A c.6997C>T c.(6997-6999)Cga>Tga p.R2333* COADREAD 12 112642326 112642326 + Missense_Mutation SNP C C T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr12:112642326C>T c.6967G>A c.(6967-6969)Gaa>Aaa p.E2323K COADREAD 12 112647856 112647856 + Silent SNP T T C TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr12:112647856T>C c.6564A>G c.(6562-6564)ccA>ccG p.P2188P COADREAD 12 112654162 112654162 + Missense_Mutation SNP C C T TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr12:112654162C>T c.6133G>A c.(6133-6135)Gtg>Atg p.V2045M COADREAD 12 112654695 112654695 + Missense_Mutation SNP C C T TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr12:112654695C>T c.6001G>A c.(6001-6003)Gtt>Att p.V2001I COADREAD 12 112654696 112654696 + Silent SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:112654696G>A c.6000C>T c.(5998-6000)atC>atT p.I2000I COADREAD 12 112667503 112667503 + Splice_Site SNP T T C TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr12:112667503T>C c.5252A>G c.(5251-5253)cAg>cGg p.Q1751R COADREAD 12 112668562 112668562 + Missense_Mutation SNP C C T TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr12:112668562C>T c.4999G>A c.(4999-5001)Gcc>Acc p.A1667T COADREAD 12 112668612 112668612 + Missense_Mutation SNP C C T TCGA-AA-A01P-01A-21W-A096-10 TCGA-AA-A01P-11A-11W-A096-10 g.chr12:112668612C>T c.4949G>A c.(4948-4950)cGt>cAt p.R1650H COADREAD 12 112668613 112668613 + Missense_Mutation SNP G G A TCGA-AA-3821-01A-01W-0995-10 TCGA-AA-3821-10A-01W-0995-10 g.chr12:112668613G>A c.4948C>T c.(4948-4950)Cgt>Tgt p.R1650C COADREAD 12 112669336 112669336 + Missense_Mutation SNP T T C TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr12:112669336T>C c.4915A>G c.(4915-4917)Agg>Ggg p.R1639G COADREAD 12 112669382 112669382 + Silent SNP G G T TCGA-AA-3986-01A-02W-0995-10 TCGA-AA-3986-10A-01W-0999-10 g.chr12:112669382G>T c.4869C>A c.(4867-4869)tcC>tcA p.S1623S COADREAD 12 112669476 112669476 + Missense_Mutation SNP A A G TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr12:112669476A>G c.4775T>C c.(4774-4776)cTg>cCg p.L1592P COADREAD 12 112670867 112670867 + Silent SNP G G T TCGA-CA-5254-01A-21D-1835-10 TCGA-CA-5254-10A-01D-1835-10 g.chr12:112670867G>T c.4672C>A c.(4672-4674)Cga>Aga p.R1558R COADREAD 12 112673415 112673415 + Missense_Mutation SNP C C A TCGA-AA-3681-01A-01W-0900-09 TCGA-AA-3681-10A-01W-0900-09 g.chr12:112673415C>A c.4352G>T c.(4351-4353)tGg>tTg p.W1451L COADREAD 12 112673554 112673554 + Missense_Mutation SNP C C A TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr12:112673554C>A c.4213G>T c.(4213-4215)Gct>Tct p.A1405S COADREAD 12 112684854 112684854 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:112684854G>T c.3098C>A c.(3097-3099)tCt>tAt p.S1033Y COADREAD 12 112686176 112686176 + Missense_Mutation SNP T T G TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr12:112686176T>G c.2825A>C c.(2824-2826)aAa>aCa p.K942T COADREAD 12 112688090 112688090 + Nonsense_Mutation SNP C C A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr12:112688090C>A c.2542G>T c.(2542-2544)Gaa>Taa p.E848* COADREAD 12 112688090 112688090 + Nonsense_Mutation SNP C C A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr12:112688090C>A c.2542G>T c.(2542-2544)Gaa>Taa p.E848* COADREAD 12 112690349 112690349 + Frame_Shift_Del DEL G G - TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr12:112690349delG c.2165delC c.(2164-2166)cctfs p.P722fs COADREAD 12 112694180 112694180 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr12:112694180G>A c.1975C>T c.(1975-1977)Cgc>Tgc p.R659C COADREAD 12 112708081 112708081 + Missense_Mutation SNP T T C TCGA-AG-4008-01A-01W-1073-09 TCGA-AG-4008-10A-01W-1073-09 g.chr12:112708081T>C c.829A>G c.(829-831)Atg>Gtg p.M277V COADREAD 12 112720923 112720923 + Missense_Mutation SNP C C T TCGA-AA-A02W-01A-01W-A00E-09 TCGA-AA-A02W-10A-01W-A00E-09 g.chr12:112720923C>T c.337G>A c.(337-339)Gat>Aat p.D113N DLBC 12 112600883 112600883 + Silent SNP C C T TCGA-G8-6906-01A-11D-2210-10 TCGA-G8-6906-14A-01D-2210-10 g.chr12:112600883C>T c.11817G>A c.(11815-11817)ccG>ccA p.P3939P DLBC 12 112622063 112622063 + Silent SNP G G A TCGA-FF-8062-01A-11D-2210-10 TCGA-FF-8062-10A-01D-2210-10 g.chr12:112622063G>A c.9441C>T c.(9439-9441)tcC>tcT p.S3147S DLBC 12 112622244 112622244 + Missense_Mutation SNP A A G TCGA-G8-6914-01A-11D-2210-10 TCGA-G8-6914-14A-01D-2210-10 g.chr12:112622244A>G c.9260T>C c.(9259-9261)gTg>gCg p.V3087A ESCA 12 112607445 112607445 + Missense_Mutation SNP C C T TCGA-LN-A4A9-01A-11D-A28B-09 TCGA-LN-A4A9-10A-01D-A28E-09 g.chr12:112607445C>T c.10804G>A c.(10804-10806)Gaa>Aaa p.E3602K ESCA 12 112622687 112622687 + Silent SNP G G T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 g.chr12:112622687G>T c.8817C>A c.(8815-8817)ctC>ctA p.L2939L ESCA 12 112622969 112622969 + Silent SNP C C T TCGA-VR-A8EZ-01A-11D-A36J-09 TCGA-VR-A8EZ-10A-01D-A36M-09 g.chr12:112622969C>T c.8535G>A c.(8533-8535)gtG>gtA p.V2845V ESCA 12 112630932 112630932 + Missense_Mutation SNP C C T TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 g.chr12:112630932C>T c.7753G>A c.(7753-7755)Gtg>Atg p.V2585M ESCA 12 112631334 112631334 + Missense_Mutation SNP G G T TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 g.chr12:112631334G>T c.7628C>A c.(7627-7629)aCc>aAc p.T2543N ESCA 12 112641530 112641530 + Silent SNP G G A TCGA-LN-A9FQ-01A-31D-A387-09 TCGA-LN-A9FQ-10A-01D-A38A-09 g.chr12:112641530G>A c.7050C>T c.(7048-7050)agC>agT p.S2350S ESCA 12 112654172 112654172 + Silent SNP G G A TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 g.chr12:112654172G>A c.6123C>T c.(6121-6123)aaC>aaT p.N2041N ESCA 12 112665918 112665918 + Missense_Mutation SNP G G A TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 g.chr12:112665918G>A c.5563C>T c.(5563-5565)Cgg>Tgg p.R1855W ESCA 12 112672926 112672926 + Missense_Mutation SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 g.chr12:112672926T>C c.4604A>G c.(4603-4605)aAg>aGg p.K1535R ESCA 12 112673435 112673435 + Silent SNP T T A TCGA-LN-A49Y-01A-11D-A27G-09 TCGA-LN-A49Y-10A-01D-A27G-09 g.chr12:112673435T>A c.4332A>T c.(4330-4332)ggA>ggT p.G1444G ESCA 12 112673449 112673449 + Missense_Mutation SNP C C T TCGA-LN-A9FP-01A-31D-A387-09 TCGA-LN-A9FP-10A-01D-A38A-09 g.chr12:112673449C>T c.4318G>A c.(4318-4320)Gta>Ata p.V1440I ESCA 12 112685315 112685315 + Nonsense_Mutation SNP C C A TCGA-2H-A9GJ-01A-11D-A37C-09 TCGA-2H-A9GJ-11A-11D-A37F-09 g.chr12:112685315C>A c.3022G>T c.(3022-3024)Gaa>Taa p.E1008* ESCA 12 112685929 112685929 + Missense_Mutation SNP G G A TCGA-R6-A6XG-01B-11D-A33E-09 TCGA-R6-A6XG-10A-01D-A33H-09 g.chr12:112685929G>A c.2924C>T c.(2923-2925)gCc>gTc p.A975V ESCA 12 112688861 112688861 + Silent SNP G G T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 g.chr12:112688861G>T c.2364C>A c.(2362-2364)tcC>tcA p.S788S ESCA 12 112690234 112690234 + Silent SNP G G T TCGA-VR-AA4D-01A-11D-A37C-09 TCGA-VR-AA4D-10A-01D-A37F-09 g.chr12:112690234G>T c.2280C>A c.(2278-2280)cgC>cgA p.R760R ESCA 12 112690287 112690287 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 g.chr12:112690287G>T c.2227C>A c.(2227-2229)Cgt>Agt p.R743S ESCA 12 112696393 112696393 + Missense_Mutation SNP A A G TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 g.chr12:112696393A>G c.1739T>C c.(1738-1740)tTg>tCg p.L580S ESCA 12 112704775 112704775 + Missense_Mutation SNP T T A TCGA-2H-A9GF-01A-11D-A37C-09 TCGA-2H-A9GF-11A-11D-A37F-09 g.chr12:112704775T>A c.1037A>T c.(1036-1038)aAt>aTt p.N346I ESCA 12 112717041 112717041 + Missense_Mutation SNP A A G TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 g.chr12:112717041A>G c.496T>C c.(496-498)Tct>Cct p.S166P ESCA 12 112717042 112717042 + Silent SNP T T C TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 g.chr12:112717042T>C c.495A>G c.(493-495)tcA>tcG p.S165S ESCA 12 112720968 112720968 + Missense_Mutation SNP G G A TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 g.chr12:112720968G>A c.292C>T c.(292-294)Ctt>Ttt p.L98F ESCA 12 112747374 112747374 + 5'UTR SNP C C T TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 g.chr12:112747374C>T ESCA 12 112757112 112757112 + 5'UTR SNP C C T TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 g.chr12:112757112C>T GBM 12 112605619 112605619 + Splice_Site SNP T T A TCGA-76-4925-01A-01D-1486-08 TCGA-76-4925-10A-01D-1486-08 g.chr12:112605619T>A c.11045A>T c.(11044-11046)aAg>aTg p.K3682M GBM 12 112620944 112620944 + Missense_Mutation SNP C C G TCGA-41-3392-01A-01D-1495-08 TCGA-41-3392-10A-01D-1495-08 g.chr12:112620944C>G c.9640G>C c.(9640-9642)Gtg>Ctg p.V3214L GBM 12 112622744 112622744 + Silent SNP G G A TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 g.chr12:112622744G>A c.8760C>T c.(8758-8760)agC>agT p.S2920S GBM 12 112622897 112622897 + Silent SNP C C T TCGA-14-1450-01B-01D-1845-08 TCGA-14-1450-10B-01D-1845-08 g.chr12:112622897C>T c.8607G>A c.(8605-8607)tcG>tcA p.S2869S GBM 12 112703783 112703783 + Silent SNP C C T TCGA-06-0878-01A-01W-0424-08 TCGA-06-0878-10A-01W-0424-08 g.chr12:112703783C>T c.1101G>A c.(1099-1101)gaG>gaA p.E367E GBM 12 112721040 112721040 + Missense_Mutation SNP C C T TCGA-06-0140-01A-01D-1490-08 TCGA-06-0140-10A-01D-1490-08 g.chr12:112721040C>T c.220G>A c.(220-222)Gaa>Aaa p.E74K GBMLGG 12 112600941 112600941 + Missense_Mutation SNP C C T TCGA-QH-A6CS-01A-11D-A31L-08 TCGA-QH-A6CS-10A-01D-A31J-08 g.chr12:112600941C>T c.11759G>A c.(11758-11760)cGc>cAc p.R3920H GBMLGG 12 112605177 112605177 + Nonsense_Mutation SNP G G A TCGA-WY-A85C-01A-11D-A36O-08 TCGA-WY-A85C-10A-01D-A367-08 g.chr12:112605177G>A c.11212C>T c.(11212-11214)Caa>Taa p.Q3738* GBMLGG 12 112605213 112605215 + In_Frame_Del DEL AGA AGA - TCGA-S9-A6TW-01A-12D-A32B-08 TCGA-S9-A6TW-10A-01D-A329-08 g.chr12:112605213_112605215delAGA c.11174_11176delTCT c.(11173-11178)ttctgg>tgg p.F3725del GBMLGG 12 112605619 112605619 + Splice_Site SNP T T A TCGA-76-4925-01A-01D-1486-08 TCGA-76-4925-10A-01D-1486-08 g.chr12:112605619T>A c.11045A>T c.(11044-11046)aAg>aTg p.K3682M GBMLGG 12 112605711 112605714 + Frame_Shift_Del DEL GAAA GAAA - TCGA-S9-A6WL-01A-21D-A33T-08 TCGA-S9-A6WL-10A-01D-A33W-08 g.chr12:112605711_112605714delGAAA c.10950_10953delTTTC c.(10948-10953)tctttcfs p.SF3650fs GBMLGG 12 112617095 112617095 + Silent SNP G G C TCGA-DU-5855-01A-11D-1705-08 TCGA-DU-5855-10A-01D-1705-08 g.chr12:112617095G>C c.9828C>G c.(9826-9828)gtC>gtG p.V3276V GBMLGG 12 112620944 112620944 + Missense_Mutation SNP C C G TCGA-41-3392-01A-01D-1495-08 TCGA-41-3392-10A-01D-1495-08 g.chr12:112620944C>G c.9640G>C c.(9640-9642)Gtg>Ctg p.V3214L GBMLGG 12 112621023 112621023 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:112621023G>A c.9561C>T c.(9559-9561)aaC>aaT p.N3187N GBMLGG 12 112622744 112622744 + Silent SNP G G A TCGA-27-1835-01A-01D-1494-08 TCGA-27-1835-10A-01D-1494-08 g.chr12:112622744G>A c.8760C>T c.(8758-8760)agC>agT p.S2920S GBMLGG 12 112622897 112622897 + Silent SNP C C T TCGA-14-1450-01B-01D-1845-08 TCGA-14-1450-10B-01D-1845-08 g.chr12:112622897C>T c.8607G>A c.(8605-8607)tcG>tcA p.S2869S GBMLGG 12 112647838 112647838 + Silent SNP G G A TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 g.chr12:112647838G>A c.6582C>T c.(6580-6582)gcC>gcT p.A2194A GBMLGG 12 112667602 112667602 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:112667602C>A c.5153G>T c.(5152-5154)aGg>aTg p.R1718M GBMLGG 12 112667652 112667652 + Silent SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:112667652T>C c.5103A>G c.(5101-5103)caA>caG p.Q1701Q GBMLGG 12 112673464 112673464 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:112673464G>A c.4303C>T c.(4303-4305)Ctg>Ttg p.L1435L GBMLGG 12 112674788 112674788 + Missense_Mutation SNP G G A TCGA-DB-5281-01A-01D-1468-08 TCGA-DB-5281-10A-01D-1468-08 g.chr12:112674788G>A c.4139C>T c.(4138-4140)gCg>gTg p.A1380V GBMLGG 12 112685974 112685974 + Splice_Site SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:112685974C>A c.2879G>T c.(2878-2880)aGt>aTt p.S960I GBMLGG 12 112697032 112697032 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:112697032G>A c.1615C>T c.(1615-1617)Ctt>Ttt p.L539F GBMLGG 12 112703783 112703783 + Silent SNP C C T TCGA-06-0878-01A-01W-0424-08 TCGA-06-0878-10A-01W-0424-08 g.chr12:112703783C>T c.1101G>A c.(1099-1101)gaG>gaA p.E367E GBMLGG 12 112708084 112708084 + Missense_Mutation SNP C C T TCGA-DH-A7US-01A-11D-A33T-08 TCGA-DH-A7US-10A-01D-A33W-08 g.chr12:112708084C>T c.826G>A c.(826-828)Gcc>Acc p.A276T GBMLGG 12 112721040 112721040 + Missense_Mutation SNP C C T TCGA-06-0140-01A-01D-1490-08 TCGA-06-0140-10A-01D-1490-08 g.chr12:112721040C>T c.220G>A c.(220-222)Gaa>Aaa p.E74K HNSC 12 112600979 112600979 + Silent SNP C C T TCGA-QK-A8Z8-01A-11D-A391-08 TCGA-QK-A8Z8-10A-01D-A394-08 g.chr12:112600979C>T c.11721G>A c.(11719-11721)gaG>gaA p.E3907E HNSC 12 112602002 112602002 + Silent SNP G G A TCGA-CQ-7068-01A-11D-2078-08 TCGA-CQ-7068-10A-01D-2078-08 g.chr12:112602002G>A c.11346C>T c.(11344-11346)agC>agT p.S3782S HNSC 12 112605214 112605214 + Silent SNP G G A TCGA-CQ-7064-01A-11D-2394-08 TCGA-CQ-7064-10A-01D-2394-08 g.chr12:112605214G>A c.11175C>T c.(11173-11175)ttC>ttT p.F3725F HNSC 12 112605241 112605241 + Silent SNP C C G TCGA-CV-7242-01A-11D-2012-08 TCGA-CV-7242-10A-01D-2013-08 g.chr12:112605241C>G c.11148G>C c.(11146-11148)ccG>ccC p.P3716P HNSC 12 112605283 112605283 + Silent SNP G G A TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 g.chr12:112605283G>A c.11106C>T c.(11104-11106)ttC>ttT p.F3702F HNSC 12 112607337 112607337 + Missense_Mutation SNP G G A TCGA-MT-A7BN-01A-12D-A34J-08 TCGA-MT-A7BN-10A-01D-A34M-08 g.chr12:112607337G>A c.10912C>T c.(10912-10914)Cgc>Tgc p.R3638C HNSC 12 112608228 112608228 + Silent SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr12:112608228G>A c.10695C>T c.(10693-10695)acC>acT p.T3565T HNSC 12 112610649 112610649 + Missense_Mutation SNP C C T TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 g.chr12:112610649C>T c.10345G>A c.(10345-10347)Gtc>Atc p.V3449I HNSC 12 112617111 112617111 + Missense_Mutation SNP G G A TCGA-CN-5355-01A-01D-1434-08 TCGA-CN-5355-10A-01D-1434-08 g.chr12:112617111G>A c.9812C>T c.(9811-9813)gCg>gTg p.A3271V HNSC 12 112622228 112622228 + Silent SNP G G A TCGA-CV-6935-01A-11D-1912-08 TCGA-CV-6935-10A-01D-1912-08 g.chr12:112622228G>A c.9276C>T c.(9274-9276)gcC>gcT p.A3092A HNSC 12 112622357 112622357 + Silent SNP G G A TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 g.chr12:112622357G>A c.9147C>T c.(9145-9147)gtC>gtT p.V3049V HNSC 12 112622580 112622580 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr12:112622580C>T c.8924G>A c.(8923-8925)cGc>cAc p.R2975H HNSC 12 112630477 112630477 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr12:112630477G>A c.7913C>T c.(7912-7914)gCc>gTc p.A2638V HNSC 12 112646363 112646363 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr12:112646363C>T c.6673G>A c.(6673-6675)Gac>Aac p.D2225N HNSC 12 112648043 112648043 + Missense_Mutation SNP C C T TCGA-IQ-A61L-01A-11D-A30E-08 TCGA-IQ-A61L-10A-01D-A30H-08 g.chr12:112648043C>T c.6377G>A c.(6376-6378)cGa>cAa p.R2126Q HNSC 12 112650328 112650328 + Missense_Mutation SNP G G A TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 g.chr12:112650328G>A c.6326C>T c.(6325-6327)tCt>tTt p.S2109F HNSC 12 112650351 112650351 + Silent SNP G G C TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 g.chr12:112650351G>C c.6303C>G c.(6301-6303)ctC>ctG p.L2101L HNSC 12 112665919 112665919 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr12:112665919A>G c.5562T>C c.(5560-5562)gtT>gtC p.V1854V HNSC 12 112665943 112665943 + Silent SNP C C T TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 g.chr12:112665943C>T c.5538G>A c.(5536-5538)ggG>ggA p.G1846G HNSC 12 112666473 112666473 + Missense_Mutation SNP C C T TCGA-CN-6016-01A-11D-1683-08 TCGA-CN-6016-10A-01D-1683-08 g.chr12:112666473C>T c.5396G>A c.(5395-5397)aGa>aAa p.R1799K HNSC 12 112667559 112667559 + Silent SNP G G A TCGA-CV-7429-01A-11D-2129-08 TCGA-CV-7429-10A-01D-2129-08 g.chr12:112667559G>A c.5196C>T c.(5194-5196)gcC>gcT p.A1732A HNSC 12 112670875 112670875 + Missense_Mutation SNP C C G TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 g.chr12:112670875C>G c.4664G>C c.(4663-4665)cGg>cCg p.R1555P HNSC 12 112673334 112673334 + Missense_Mutation SNP G G A TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 g.chr12:112673334G>A c.4433C>T c.(4432-4434)gCa>gTa p.A1478V HNSC 12 112673511 112673511 + Missense_Mutation SNP G G A TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 g.chr12:112673511G>A c.4256C>T c.(4255-4257)cCg>cTg p.P1419L HNSC 12 112681213 112681213 + Silent SNP G G A TCGA-CV-7422-01A-21D-2078-08 TCGA-CV-7422-10A-01D-2078-08 g.chr12:112681213G>A c.3636C>T c.(3634-3636)gtC>gtT p.V1212V HNSC 12 112681770 112681770 + Silent SNP G G T TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 g.chr12:112681770G>T c.3291C>A c.(3289-3291)gtC>gtA p.V1097V HNSC 12 112684766 112684766 + Silent SNP G G C TCGA-BA-6869-01A-11D-1870-08 TCGA-BA-6869-10A-01D-1870-08 g.chr12:112684766G>C c.3186C>G c.(3184-3186)gtC>gtG p.V1062V HNSC 12 112690230 112690230 + Missense_Mutation SNP G G C TCGA-UF-A7JH-01A-21D-A34J-08 TCGA-UF-A7JH-10A-01D-A34M-08 g.chr12:112690230G>C c.2284C>G c.(2284-2286)Cag>Gag p.Q762E HNSC 12 112690297 112690297 + Missense_Mutation SNP C C T TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 g.chr12:112690297C>T c.2217G>A c.(2215-2217)atG>atA p.M739I HNSC 12 112699141 112699141 + Silent SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 g.chr12:112699141G>A c.1545C>T c.(1543-1545)ctC>ctT p.L515L HNSC 12 112699209 112699209 + Missense_Mutation SNP G G A TCGA-HD-A633-01A-11D-A28R-08 TCGA-HD-A633-10A-01D-A28U-08 g.chr12:112699209G>A c.1477C>T c.(1477-1479)Ctt>Ttt p.L493F HNSC 12 112703016 112703016 + Missense_Mutation SNP G G C TCGA-CQ-5327-01A-01D-1683-08 TCGA-CQ-5327-10A-01D-1683-08 g.chr12:112703016G>C c.1286C>G c.(1285-1287)tCt>tGt p.S429C HNSC 12 112703750 112703750 + Silent SNP C C G TCGA-MT-A51X-01A-11D-A25Y-08 TCGA-MT-A51X-10A-01D-A25Y-08 g.chr12:112703750C>G c.1134G>C c.(1132-1134)gtG>gtC p.V378V HNSC 12 112711540 112711540 + Nonsense_Mutation SNP G G A TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 g.chr12:112711540G>A c.565C>T c.(565-567)Cag>Tag p.Q189* HNSC 12 112711557 112711557 + Nonsense_Mutation SNP G G C TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 g.chr12:112711557G>C c.548C>G c.(547-549)tCa>tGa p.S183* KICH 12 112607414 112607414 + Missense_Mutation SNP T T C TCGA-KM-8476-01A-11D-2310-10 TCGA-KM-8476-10A-01D-2311-10 g.chr12:112607414T>C c.10835A>G c.(10834-10836)cAg>cGg p.Q3612R KICH 12 112688161 112688162 + Frame_Shift_Ins INS - - C TCGA-KO-8409-01A-11D-2310-10 TCGA-KO-8409-11A-01D-2311-10 g.chr12:112688161_112688162insC c.2470_2471insG c.(2470-2472)gccfs p.A824fs KIPAN 12 112601434 112601434 + Missense_Mutation SNP A A G TCGA-F9-A8NY-01A-11D-A35Z-10 TCGA-F9-A8NY-10A-01D-A35Z-10 g.chr12:112601434A>G c.11543T>C c.(11542-11544)aTc>aCc p.I3848T KIPAN 12 112605266 112605266 + Missense_Mutation SNP C C T TCGA-B1-A47O-01A-11D-A25F-10 TCGA-B1-A47O-10A-01D-A25F-10 g.chr12:112605266C>T c.11123G>A c.(11122-11124)gGg>gAg p.G3708E KIPAN 12 112607414 112607414 + Missense_Mutation SNP T T C TCGA-KM-8476-01A-11D-2310-10 TCGA-KM-8476-10A-01D-2311-10 g.chr12:112607414T>C c.10835A>G c.(10834-10836)cAg>cGg p.Q3612R KIPAN 12 112607423 112607423 + Missense_Mutation SNP G G C TCGA-J7-A8I2-01A-12D-A35Z-10 TCGA-J7-A8I2-10A-01D-A35Z-10 g.chr12:112607423G>C c.10826C>G c.(10825-10827)gCt>gGt p.A3609G KIPAN 12 112616787 112616787 + Missense_Mutation SNP G G A TCGA-B0-4843-01A-01D-1361-10 TCGA-B0-4843-11A-01D-1361-10 g.chr12:112616787G>A c.10045C>T c.(10045-10047)Cgg>Tgg p.R3349W KIPAN 12 112620983 112620983 + Missense_Mutation SNP C C T TCGA-G7-A8LB-01A-11D-A35Z-10 TCGA-G7-A8LB-10A-01D-A35Z-10 g.chr12:112620983C>T c.9601G>A c.(9601-9603)Gat>Aat p.D3201N KIPAN 12 112622150 112622150 + Silent SNP C C G TCGA-SX-A7SM-01A-11D-A34Z-10 TCGA-SX-A7SM-10A-01D-A34Z-10 g.chr12:112622150C>G c.9354G>C c.(9352-9354)ctG>ctC p.L3118L KIPAN 12 112650409 112650409 + Missense_Mutation SNP G G T TCGA-BP-4162-01A-02D-1386-10 TCGA-BP-4162-11A-01D-1251-10 g.chr12:112650409G>T c.6245C>A c.(6244-6246)cCt>cAt p.P2082H KIPAN 12 112650435 112650435 + Silent SNP G G C TCGA-B0-5108-01A-01D-1421-08 TCGA-B0-5108-11A-01D-1421-08 g.chr12:112650435G>C c.6219C>G c.(6217-6219)ggC>ggG p.G2073G KIPAN 12 112654883 112654883 + Silent SNP C C T TCGA-2Z-A9JM-01A-12D-A42J-10 TCGA-2Z-A9JM-10A-01D-A42M-10 g.chr12:112654883C>T c.5925G>A c.(5923-5925)ctG>ctA p.L1975L KIPAN 12 112664523 112664523 + Silent SNP T T C TCGA-2Z-A9JS-01A-21D-A42J-10 TCGA-2Z-A9JS-10A-01D-A42M-10 g.chr12:112664523T>C c.5628A>G c.(5626-5628)ttA>ttG p.L1876L KIPAN 12 112668608 112668608 + Silent SNP G G A TCGA-IZ-8195-01A-31D-2396-08 TCGA-IZ-8195-10A-01D-2396-08 g.chr12:112668608G>A c.4953C>T c.(4951-4953)ccC>ccT p.P1651P KIPAN 12 112673071 112673071 + Splice_Site SNP C C A TCGA-BP-4993-01A-02D-1421-08 TCGA-BP-4993-11A-01D-1421-08 g.chr12:112673071C>A c.e36-1 KIPAN 12 112688106 112688106 + Silent SNP G G C TCGA-CJ-4905-01A-02D-1429-08 TCGA-CJ-4905-11A-01D-1429-08 g.chr12:112688106G>C c.2526C>G c.(2524-2526)acC>acG p.T842T KIPAN 12 112688161 112688162 + Frame_Shift_Ins INS - - C TCGA-KO-8409-01A-11D-2310-10 TCGA-KO-8409-11A-01D-2311-10 g.chr12:112688161_112688162insC c.2470_2471insG c.(2470-2472)gccfs p.A824fs KIPAN 12 112694159 112694159 + Missense_Mutation SNP C C T TCGA-BQ-5894-01A-11D-1589-08 TCGA-BQ-5894-11A-01D-1589-08 g.chr12:112694159C>T c.1996G>A c.(1996-1998)Gat>Aat p.D666N KIRC 12 112616787 112616787 + Missense_Mutation SNP G G A TCGA-B0-4843-01A-01D-1361-10 TCGA-B0-4843-11A-01D-1361-10 g.chr12:112616787G>A c.10045C>T c.(10045-10047)Cgg>Tgg p.R3349W KIRC 12 112650409 112650409 + Missense_Mutation SNP G G T TCGA-BP-4162-01A-02D-1386-10 TCGA-BP-4162-11A-01D-1251-10 g.chr12:112650409G>T c.6245C>A c.(6244-6246)cCt>cAt p.P2082H KIRC 12 112650435 112650435 + Silent SNP G G C TCGA-B0-5108-01A-01D-1421-08 TCGA-B0-5108-11A-01D-1421-08 g.chr12:112650435G>C c.6219C>G c.(6217-6219)ggC>ggG p.G2073G KIRC 12 112673071 112673071 + Splice_Site SNP C C A TCGA-BP-4993-01A-02D-1421-08 TCGA-BP-4993-11A-01D-1421-08 g.chr12:112673071C>A c.e36-1 KIRC 12 112688106 112688106 + Silent SNP G G C TCGA-CJ-4905-01A-02D-1429-08 TCGA-CJ-4905-11A-01D-1429-08 g.chr12:112688106G>C c.2526C>G c.(2524-2526)acC>acG p.T842T KIRP 12 112601434 112601434 + Missense_Mutation SNP A A G TCGA-F9-A8NY-01A-11D-A35Z-10 TCGA-F9-A8NY-10A-01D-A35Z-10 g.chr12:112601434A>G c.11543T>C c.(11542-11544)aTc>aCc p.I3848T KIRP 12 112605266 112605266 + Missense_Mutation SNP C C T TCGA-B1-A47O-01A-11D-A25F-10 TCGA-B1-A47O-10A-01D-A25F-10 g.chr12:112605266C>T c.11123G>A c.(11122-11124)gGg>gAg p.G3708E KIRP 12 112607423 112607423 + Missense_Mutation SNP G G C TCGA-J7-A8I2-01A-12D-A35Z-10 TCGA-J7-A8I2-10A-01D-A35Z-10 g.chr12:112607423G>C c.10826C>G c.(10825-10827)gCt>gGt p.A3609G KIRP 12 112620983 112620983 + Missense_Mutation SNP C C T TCGA-G7-A8LB-01A-11D-A35Z-10 TCGA-G7-A8LB-10A-01D-A35Z-10 g.chr12:112620983C>T c.9601G>A c.(9601-9603)Gat>Aat p.D3201N KIRP 12 112622150 112622150 + Silent SNP C C G TCGA-SX-A7SM-01A-11D-A34Z-10 TCGA-SX-A7SM-10A-01D-A34Z-10 g.chr12:112622150C>G c.9354G>C c.(9352-9354)ctG>ctC p.L3118L KIRP 12 112654883 112654883 + Silent SNP C C T TCGA-2Z-A9JM-01A-12D-A42J-10 TCGA-2Z-A9JM-10A-01D-A42M-10 g.chr12:112654883C>T c.5925G>A c.(5923-5925)ctG>ctA p.L1975L KIRP 12 112664523 112664523 + Silent SNP T T C TCGA-2Z-A9JS-01A-21D-A42J-10 TCGA-2Z-A9JS-10A-01D-A42M-10 g.chr12:112664523T>C c.5628A>G c.(5626-5628)ttA>ttG p.L1876L KIRP 12 112668608 112668608 + Silent SNP G G A TCGA-IZ-8195-01A-31D-2396-08 TCGA-IZ-8195-10A-01D-2396-08 g.chr12:112668608G>A c.4953C>T c.(4951-4953)ccC>ccT p.P1651P KIRP 12 112694159 112694159 + Missense_Mutation SNP C C T TCGA-BQ-5894-01A-11D-1589-08 TCGA-BQ-5894-11A-01D-1589-08 g.chr12:112694159C>T c.1996G>A c.(1996-1998)Gat>Aat p.D666N LGG 12 112600941 112600941 + Missense_Mutation SNP C C T TCGA-QH-A6CS-01A-11D-A31L-08 TCGA-QH-A6CS-10A-01D-A31J-08 g.chr12:112600941C>T c.11759G>A c.(11758-11760)cGc>cAc p.R3920H LGG 12 112605177 112605177 + Nonsense_Mutation SNP G G A TCGA-WY-A85C-01A-11D-A36O-08 TCGA-WY-A85C-10A-01D-A367-08 g.chr12:112605177G>A c.11212C>T c.(11212-11214)Caa>Taa p.Q3738* LGG 12 112605213 112605215 + In_Frame_Del DEL AGA AGA - TCGA-S9-A6TW-01A-12D-A32B-08 TCGA-S9-A6TW-10A-01D-A329-08 g.chr12:112605213_112605215delAGA c.11174_11176delTCT c.(11173-11178)ttctgg>tgg p.F3725del LGG 12 112605711 112605714 + Frame_Shift_Del DEL GAAA GAAA - TCGA-S9-A6WL-01A-21D-A33T-08 TCGA-S9-A6WL-10A-01D-A33W-08 g.chr12:112605711_112605714delGAAA c.10950_10953delTTTC c.(10948-10953)tctttcfs p.SF3650fs LGG 12 112617095 112617095 + Silent SNP G G C TCGA-DU-5855-01A-11D-1705-08 TCGA-DU-5855-10A-01D-1705-08 g.chr12:112617095G>C c.9828C>G c.(9826-9828)gtC>gtG p.V3276V LGG 12 112621023 112621023 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:112621023G>A c.9561C>T c.(9559-9561)aaC>aaT p.N3187N LGG 12 112647838 112647838 + Silent SNP G G A TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 g.chr12:112647838G>A c.6582C>T c.(6580-6582)gcC>gcT p.A2194A LGG 12 112667602 112667602 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:112667602C>A c.5153G>T c.(5152-5154)aGg>aTg p.R1718M LGG 12 112667652 112667652 + Silent SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:112667652T>C c.5103A>G c.(5101-5103)caA>caG p.Q1701Q LGG 12 112673464 112673464 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:112673464G>A c.4303C>T c.(4303-4305)Ctg>Ttg p.L1435L LGG 12 112674788 112674788 + Missense_Mutation SNP G G A TCGA-DB-5281-01A-01D-1468-08 TCGA-DB-5281-10A-01D-1468-08 g.chr12:112674788G>A c.4139C>T c.(4138-4140)gCg>gTg p.A1380V LGG 12 112685974 112685974 + Splice_Site SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:112685974C>A c.2879G>T c.(2878-2880)aGt>aTt p.S960I LGG 12 112697032 112697032 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:112697032G>A c.1615C>T c.(1615-1617)Ctt>Ttt p.L539F LGG 12 112708084 112708084 + Missense_Mutation SNP C C T TCGA-DH-A7US-01A-11D-A33T-08 TCGA-DH-A7US-10A-01D-A33W-08 g.chr12:112708084C>T c.826G>A c.(826-828)Gcc>Acc p.A276T LIHC 12 112601506 112601506 + Missense_Mutation SNP C C T TCGA-DD-A4NO-01A-11D-A28X-10 TCGA-DD-A4NO-10A-01D-A28X-10 g.chr12:112601506C>T c.11471G>A c.(11470-11472)cGg>cAg p.R3824Q LIHC 12 112613605 112613605 + Silent SNP G G T TCGA-WQ-A9G7-01A-11D-A36X-10 TCGA-WQ-A9G7-10A-01D-A370-10 g.chr12:112613605G>T c.10263C>A c.(10261-10263)gcC>gcA p.A3421A LIHC 12 112613662 112613662 + Splice_Site SNP G G A TCGA-G3-A3CG-01A-11D-A20W-10 TCGA-G3-A3CG-10A-01D-A20W-10 g.chr12:112613662G>A c.10206C>T c.(10204-10206)gtC>gtT p.V3402V LIHC 12 112617070 112617070 + Nonsense_Mutation SNP G G A TCGA-G3-AAV5-01A-11D-A36X-10 TCGA-G3-AAV5-10A-01D-A370-10 g.chr12:112617070G>A c.9853C>T c.(9853-9855)Cag>Tag p.Q3285* LIHC 12 112622466 112622466 + Missense_Mutation SNP G G A TCGA-EP-A2KB-01A-11D-A183-10 TCGA-EP-A2KB-10A-01D-A183-10 g.chr12:112622466G>A c.9038C>T c.(9037-9039)cCg>cTg p.P3013L LIHC 12 112622648 112622648 + Frame_Shift_Del DEL C C - TCGA-DD-A39Y-01A-11D-A20W-10 TCGA-DD-A39Y-11A-11D-A20W-10 g.chr12:112622648delC c.8856delG c.(8854-8856)gggfs p.G2952fs LIHC 12 112630422 112630422 + Frame_Shift_Del DEL G G - TCGA-DD-A39Y-01A-11D-A20W-10 TCGA-DD-A39Y-11A-11D-A20W-10 g.chr12:112630422delG c.7968delC c.(7966-7968)cccfs p.P2656fs LIHC 12 112638476 112638476 + Missense_Mutation SNP C C G TCGA-5C-AAPD-01A-21D-A38X-10 TCGA-5C-AAPD-10A-01D-A38X-10 g.chr12:112638476C>G c.7267G>C c.(7267-7269)Gtc>Ctc p.V2423L LIHC 12 112638561 112638561 + Missense_Mutation SNP T T A TCGA-DD-AAEA-01A-11D-A40R-10 TCGA-DD-AAEA-10A-01D-A40U-10 g.chr12:112638561T>A c.7182A>T c.(7180-7182)gaA>gaT p.E2394D LIHC 12 112667541 112667541 + Silent SNP T T C TCGA-DD-A39X-01A-11D-A20W-10 TCGA-DD-A39X-11A-11D-A20W-10 g.chr12:112667541T>C c.5214A>G c.(5212-5214)ggA>ggG p.G1738G LIHC 12 112673432 112673432 + Silent SNP G G A TCGA-LG-A9QC-01A-11D-A36X-10 TCGA-LG-A9QC-10A-01D-A370-10 g.chr12:112673432G>A c.4335C>T c.(4333-4335)aaC>aaT p.N1445N LIHC 12 112673514 112673514 + Missense_Mutation SNP C C T TCGA-UB-AA0U-01A-11D-A382-10 TCGA-UB-AA0U-10A-01D-A385-10 g.chr12:112673514C>T c.4253G>A c.(4252-4254)cGc>cAc p.R1418H LIHC 12 112681775 112681775 + Missense_Mutation SNP C C T TCGA-CC-A8HV-01A-11D-A35Z-10 TCGA-CC-A8HV-10A-01D-A35Z-10 g.chr12:112681775C>T c.3286G>A c.(3286-3288)Gct>Act p.A1096T LIHC 12 112685271 112685271 + Silent SNP T T C TCGA-G3-A3CJ-01A-11D-A20W-10 TCGA-G3-A3CJ-10A-01D-A20W-10 g.chr12:112685271T>C c.3066A>G c.(3064-3066)tcA>tcG p.S1022S LIHC 12 112685903 112685903 + Missense_Mutation SNP T T A TCGA-CC-A5UD-01A-11D-A28X-10 TCGA-CC-A5UD-10A-01D-A28X-10 g.chr12:112685903T>A c.2950A>T c.(2950-2952)Atg>Ttg p.M984L LIHC 12 112685925 112685925 + Missense_Mutation SNP C C G TCGA-CC-A8HS-01A-11D-A35Z-10 TCGA-CC-A8HS-10A-01D-A35Z-10 g.chr12:112685925C>G c.2928G>C c.(2926-2928)atG>atC p.M976I LIHC 12 112688787 112688787 + Missense_Mutation SNP T T A TCGA-CC-A7IH-01A-11D-A33K-10 TCGA-CC-A7IH-10A-01D-A33K-10 g.chr12:112688787T>A c.2438A>T c.(2437-2439)aAa>aTa p.K813I LIHC 12 112694221 112694221 + Missense_Mutation SNP T T C TCGA-DD-A39Y-01A-11D-A20W-10 TCGA-DD-A39Y-11A-11D-A20W-10 g.chr12:112694221T>C c.1934A>G c.(1933-1935)gAc>gGc p.D645G LIHC 12 112703054 112703054 + Silent SNP T T C TCGA-DD-A3A0-01A-11D-A20W-10 TCGA-DD-A3A0-11A-11D-A20W-10 g.chr12:112703054T>C c.1248A>G c.(1246-1248)cgA>cgG p.R416R LIHC 12 112717077 112717077 + Missense_Mutation SNP T T G TCGA-UB-A7MB-01A-11D-A33Q-10 TCGA-UB-A7MB-10A-01D-A33Q-10 g.chr12:112717077T>G c.460A>C c.(460-462)Acc>Ccc p.T154P LIHC 12 112721009 112721009 + Missense_Mutation SNP A A G TCGA-DD-AAC9-01A-11D-A40R-10 TCGA-DD-AAC9-10A-01D-A40U-10 g.chr12:112721009A>G c.251T>C c.(250-252)cTa>cCa p.L84P LUAD 12 112600844 112600844 + Splice_Site SNP A A C TCGA-97-7552-01A-11D-2036-08 TCGA-97-7552-10A-01D-2036-08 g.chr12:112600844A>C c.e74+1 LUAD 12 112600871 112600871 + Silent SNP C C T TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 g.chr12:112600871C>T c.11829G>A c.(11827-11829)aaG>aaA p.K3943K LUAD 12 112600874 112600874 + Missense_Mutation SNP C C T TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 g.chr12:112600874C>T c.11826G>A c.(11824-11826)atG>atA p.M3942I LUAD 12 112605160 112605160 + Silent SNP C C A TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 g.chr12:112605160C>A c.11229G>T c.(11227-11229)gcG>gcT p.A3743A LUAD 12 112607317 112607317 + Silent SNP G G C TCGA-55-6968-01A-11D-1945-08 TCGA-55-6968-11A-01D-1945-08 g.chr12:112607317G>C c.10932C>G c.(10930-10932)gtC>gtG p.V3644V LUAD 12 112608231 112608231 + Silent SNP C C T TCGA-93-8067-01A-11D-2284-08 TCGA-93-8067-10A-01D-2284-08 g.chr12:112608231C>T c.10692G>A c.(10690-10692)gtG>gtA p.V3564V LUAD 12 112616995 112616995 + Missense_Mutation SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 g.chr12:112616995C>T c.9928G>A c.(9928-9930)Gag>Aag p.E3310K LUAD 12 112616996 112616996 + Silent SNP C C T TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 g.chr12:112616996C>T c.9927G>A c.(9925-9927)ctG>ctA p.L3309L LUAD 12 112622024 112622024 + Frame_Shift_Del DEL G G - TCGA-64-5781-01A-01D-1625-08 TCGA-64-5781-10A-01D-1625-08 g.chr12:112622024delG c.9480delC c.(9478-9480)gccfs p.A3161fs LUAD 12 112622286 112622286 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 g.chr12:112622286C>A c.9218G>T c.(9217-9219)tGc>tTc p.C3073F LUAD 12 112622471 112622471 + Silent SNP G G A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 g.chr12:112622471G>A c.9033C>T c.(9031-9033)taC>taT p.Y3011Y LUAD 12 112622517 112622517 + Missense_Mutation SNP C C A TCGA-55-8208-01A-11D-2238-08 TCGA-55-8208-10A-01D-2238-08 g.chr12:112622517C>A c.8987G>T c.(8986-8988)cGc>cTc p.R2996L LUAD 12 112622545 112622545 + Missense_Mutation SNP C C T TCGA-95-7039-01A-11D-1945-08 TCGA-95-7039-10A-01D-1946-08 g.chr12:112622545C>T c.8959G>A c.(8959-8961)Gac>Aac p.D2987N LUAD 12 112622620 112622620 + Missense_Mutation SNP C C T TCGA-05-5428-01A-01D-1625-08 TCGA-05-5428-10A-01D-1625-08 g.chr12:112622620C>T c.8884G>A c.(8884-8886)Gat>Aat p.D2962N LUAD 12 112622801 112622801 + Silent SNP G G T TCGA-05-4395-01A-01D-1265-08 TCGA-05-4395-10A-01D-1265-08 g.chr12:112622801G>T c.8703C>A c.(8701-8703)tcC>tcA p.S2901S LUAD 12 112623130 112623130 + Missense_Mutation SNP C C A TCGA-55-A490-01A-11D-A24D-08 TCGA-55-A490-10A-01D-A24F-08 g.chr12:112623130C>A c.8374G>T c.(8374-8376)Gcc>Tcc p.A2792S LUAD 12 112638514 112638514 + Missense_Mutation SNP G G T TCGA-95-A4VP-01A-21D-A25L-08 TCGA-95-A4VP-10A-01D-A25L-08 g.chr12:112638514G>T c.7229C>A c.(7228-7230)cCc>cAc p.P2410H LUAD 12 112638548 112638548 + Nonsense_Mutation SNP G G A TCGA-91-6836-01A-21D-1855-08 TCGA-91-6836-11A-01D-1855-08 g.chr12:112638548G>A c.7195C>T c.(7195-7197)Cga>Tga p.R2399* LUAD 12 112641564 112641564 + Missense_Mutation SNP A A T TCGA-17-Z022-01A-01W-0746-08 TCGA-17-Z022-11A-01W-0746-08 g.chr12:112641564A>T c.7016T>A c.(7015-7017)gTa>gAa p.V2339E LUAD 12 112650355 112650355 + Missense_Mutation SNP C C A TCGA-05-4427-01A-21D-1855-08 TCGA-05-4427-10A-01D-1855-08 g.chr12:112650355C>A c.6299G>T c.(6298-6300)cGc>cTc p.R2100L LUAD 12 112650422 112650422 + Missense_Mutation SNP C C T TCGA-55-6968-01A-11D-1945-08 TCGA-55-6968-11A-01D-1945-08 g.chr12:112650422C>T c.6232G>A c.(6232-6234)Gag>Aag p.E2078K LUAD 12 112654685 112654685 + Missense_Mutation SNP C C A TCGA-05-4418-01A-01D-1265-08 TCGA-05-4418-10A-01D-1265-08 g.chr12:112654685C>A c.6011G>T c.(6010-6012)gGa>gTa p.G2004V LUAD 12 112654893 112654893 + Missense_Mutation SNP C C A TCGA-64-5781-01A-01D-1625-08 TCGA-64-5781-10A-01D-1625-08 g.chr12:112654893C>A c.5915G>T c.(5914-5916)gGg>gTg p.G1972V LUAD 12 112665893 112665893 + Splice_Site SNP C C A TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 g.chr12:112665893C>A c.5588G>T c.(5587-5589)aGa>aTa p.R1863I LUAD 12 112667594 112667594 + Missense_Mutation SNP C C T TCGA-97-8176-01A-11D-2393-08 TCGA-97-8176-10B-01D-2393-08 g.chr12:112667594C>T c.5161G>A c.(5161-5163)Gcc>Acc p.A1721T LUAD 12 112669411 112669411 + Missense_Mutation SNP T T C TCGA-99-7458-01A-11D-2036-08 TCGA-99-7458-10A-01D-2036-08 g.chr12:112669411T>C c.4840A>G c.(4840-4842)Atc>Gtc p.I1614V LUAD 12 112673516 112673516 + Silent SNP T T C TCGA-NJ-A4YF-01A-12D-A25L-08 TCGA-NJ-A4YF-10A-01D-A25L-08 g.chr12:112673516T>C c.4251A>G c.(4249-4251)caA>caG p.Q1417Q LUAD 12 112676903 112676903 + Missense_Mutation SNP G G A TCGA-86-A4JF-01A-11D-A24P-08 TCGA-86-A4JF-10A-01D-A24P-08 g.chr12:112676903G>A c.3977C>T c.(3976-3978)gCc>gTc p.A1326V LUAD 12 112677017 112677017 + Missense_Mutation SNP C C G TCGA-NJ-A4YQ-01A-11D-A25L-08 TCGA-NJ-A4YQ-10A-01D-A25L-08 g.chr12:112677017C>G c.3863G>C c.(3862-3864)cGc>cCc p.R1288P LUAD 12 112681285 112681285 + Missense_Mutation SNP C C A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 g.chr12:112681285C>A c.3564G>T c.(3562-3564)agG>agT p.R1188S LUAD 12 112681680 112681680 + Missense_Mutation SNP C C G TCGA-55-A494-01A-11D-A24P-08 TCGA-55-A494-10A-01D-A24P-08 g.chr12:112681680C>G c.3381G>C c.(3379-3381)caG>caC p.Q1127H LUAD 12 112686139 112686139 + Missense_Mutation SNP C C T TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 g.chr12:112686139C>T c.2862G>A c.(2860-2862)atG>atA p.M954I LUAD 12 112686297 112686297 + Missense_Mutation SNP C C G TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 g.chr12:112686297C>G c.2704G>C c.(2704-2706)Gtg>Ctg p.V902L LUAD 12 112688129 112688129 + Missense_Mutation SNP T T A TCGA-NJ-A55O-01A-11D-A25L-08 TCGA-NJ-A55O-10A-01D-A25L-08 g.chr12:112688129T>A c.2503A>T c.(2503-2505)Agc>Tgc p.S835C LUAD 12 112688182 112688182 + Splice_Site SNP C C A TCGA-95-A4VN-01A-11D-A25L-08 TCGA-95-A4VN-10A-01D-A25L-08 g.chr12:112688182C>A c.e24-1 LUAD 12 112701973 112701973 + Missense_Mutation SNP T T A TCGA-17-Z056-01A-01W-0747-08 TCGA-17-Z056-11A-01W-0747-08 g.chr12:112701973T>A c.1367A>T c.(1366-1368)cAc>cTc p.H456L LUAD 12 112702999 112702999 + Missense_Mutation SNP T T G TCGA-44-7670-01A-11D-2063-08 TCGA-44-7670-10A-01D-2063-08 g.chr12:112702999T>G c.1303A>C c.(1303-1305)Aag>Cag p.K435Q LUAD 12 112708216 112708216 + Missense_Mutation SNP C C T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 g.chr12:112708216C>T c.694G>A c.(694-696)Gtt>Att p.V232I LUAD 12 112711489 112711489 + Nonsense_Mutation SNP C C A TCGA-86-8073-01A-11D-2238-08 TCGA-86-8073-10A-01D-2238-08 g.chr12:112711489C>A c.616G>T c.(616-618)Gga>Tga p.G206* LUAD 12 112717030 112717030 + Splice_Site SNP A A T TCGA-55-A491-01A-11D-A24D-08 TCGA-55-A491-10A-01D-A24F-08 g.chr12:112717030A>T c.e9+1 LUAD 12 112717042 112717042 + Silent SNP T T C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 g.chr12:112717042T>C c.495A>G c.(493-495)tcA>tcG p.S165S LUSC 12 112617177 112617177 + Missense_Mutation SNP C C G TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 g.chr12:112617177C>G c.9746G>C c.(9745-9747)aGa>aCa p.R3249T LUSC 12 112622092 112622092 + Missense_Mutation SNP C C T TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 g.chr12:112622092C>T c.9412G>A c.(9412-9414)Gag>Aag p.E3138K LUSC 12 112622317 112622317 + Missense_Mutation SNP C C G TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 g.chr12:112622317C>G c.9187G>C c.(9187-9189)Gcc>Ccc p.A3063P LUSC 12 112632695 112632695 + Missense_Mutation SNP G G A TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 g.chr12:112632695G>A c.7477C>T c.(7477-7479)Ctc>Ttc p.L2493F LUSC 12 112632708 112632708 + Silent SNP G G A TCGA-18-3415-01A-01D-0983-08 TCGA-18-3415-11A-01D-0983-08 g.chr12:112632708G>A c.7464C>T c.(7462-7464)ctC>ctT p.L2488L LUSC 12 112654880 112654880 + Silent SNP G G A TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 g.chr12:112654880G>A c.5928C>T c.(5926-5928)ccC>ccT p.P1976P LUSC 12 112666057 112666057 + Silent SNP C C T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 g.chr12:112666057C>T c.5424G>A c.(5422-5424)ttG>ttA p.L1808L LUSC 12 112667515 112667515 + Missense_Mutation SNP C C T TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 g.chr12:112667515C>T c.5240G>A c.(5239-5241)gGa>gAa p.G1747E LUSC 12 112669453 112669453 + Nonsense_Mutation SNP G G A TCGA-66-2793-01A-01D-1267-08 TCGA-66-2793-11A-01D-1267-08 g.chr12:112669453G>A c.4798C>T c.(4798-4800)Cag>Tag p.Q1600* LUSC 12 112670832 112670832 + Silent SNP C C T TCGA-22-5473-01A-01D-1632-08 TCGA-22-5473-11A-11D-1632-08 g.chr12:112670832C>T c.4707G>A c.(4705-4707)gtG>gtA p.V1569V LUSC 12 112672921 112672921 + Missense_Mutation SNP C C T TCGA-66-2781-01A-01D-1522-08 TCGA-66-2781-11A-01D-1522-08 g.chr12:112672921C>T c.4609G>A c.(4609-4611)Gaa>Aaa p.E1537K LUSC 12 112673472 112673472 + Missense_Mutation SNP C C T TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 g.chr12:112673472C>T c.4295G>A c.(4294-4296)cGg>cAg p.R1432Q LUSC 12 112685957 112685957 + Nonsense_Mutation SNP G G A TCGA-70-6723-01A-11D-1817-08 TCGA-70-6723-10A-01D-1817-08 g.chr12:112685957G>A c.2896C>T c.(2896-2898)Caa>Taa p.Q966* LUSC 12 112686205 112686205 + Silent SNP T T C TCGA-60-2713-01A-01D-1522-08 TCGA-60-2713-11A-01D-1522-08 g.chr12:112686205T>C c.2796A>G c.(2794-2796)gaA>gaG p.E932E LUSC 12 112687950 112687950 + Missense_Mutation SNP T T C TCGA-22-4601-01A-01D-1441-08 TCGA-22-4601-11A-01D-1441-08 g.chr12:112687950T>C c.2682A>G c.(2680-2682)atA>atG p.I894M LUSC 12 112688130 112688130 + Silent SNP C C A TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 g.chr12:112688130C>A c.2502G>T c.(2500-2502)ccG>ccT p.P834P LUSC 12 112694272 112694272 + Missense_Mutation SNP G G T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 g.chr12:112694272G>T c.1883C>A c.(1882-1884)cCt>cAt p.P628H LUSC 12 112743916 112743916 + Missense_Mutation SNP C C A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 g.chr12:112743916C>A c.105G>T c.(103-105)gaG>gaT p.E35D OV 12 112610483 112610483 + Missense_Mutation SNP C C T TCGA-23-1022-01A-02W-0488-09 TCGA-23-1022-10A-01W-0488-09 g.chr12:112610483C>T c.10511G>A c.(10510-10512)tGt>tAt p.C3504Y OV 12 112621071 112621071 + Splice_Site SNP C C A TCGA-23-1809-01A-01W-0633-09 TCGA-23-1809-10A-01W-0634-09 g.chr12:112621071C>A c.e61-1 OV 12 112681535 112681535 + Silent SNP G G A TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 g.chr12:112681535G>A c.3414C>T c.(3412-3414)agC>agT p.S1138S PAAD 12 112600860 112600860 + Frame_Shift_Del DEL G G - TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 g.chr12:112600860delG c.11840delC c.(11839-11841)ccafs p.P3947fs PAAD 12 112605307 112605307 + Silent SNP G G A TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 g.chr12:112605307G>A c.11082C>T c.(11080-11082)taC>taT p.Y3694Y PAAD 12 112605648 112605650 + In_Frame_Del DEL CAG CAG - TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 g.chr12:112605648_112605650delCAG c.11014_11016delCTG c.(11014-11016)ctgdel p.L3672del PAAD 12 112622084 112622084 + Silent SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr12:112622084G>T c.9420C>A c.(9418-9420)gcC>gcA p.A3140A PAAD 12 112622141 112622141 + Silent SNP G G A TCGA-FZ-5923-01A-12D-1609-08 TCGA-FZ-5923-11A-01D-1609-08 g.chr12:112622141G>A c.9363C>T c.(9361-9363)acC>acT p.T3121T PAAD 12 112632807 112632807 + Silent SNP G G A TCGA-FB-AAQ6-01A-11D-A40W-08 TCGA-FB-AAQ6-11A-11D-A40W-08 g.chr12:112632807G>A c.7365C>T c.(7363-7365)atC>atT p.I2455I PAAD 12 112642296 112642296 + Nonsense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr12:112642296G>A c.6997C>T c.(6997-6999)Cga>Tga p.R2333* PAAD 12 112642326 112642326 + Nonsense_Mutation SNP C C A TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 g.chr12:112642326C>A c.6967G>T c.(6967-6969)Gaa>Taa p.E2323* PAAD 12 112642327 112642327 + Silent SNP G G A TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 g.chr12:112642327G>A c.6966C>T c.(6964-6966)gaC>gaT p.D2322D PAAD 12 112642347 112642347 + Missense_Mutation SNP T T G TCGA-2L-AAQJ-01A-12D-A397-08 TCGA-2L-AAQJ-11A-11D-A39A-08 g.chr12:112642347T>G c.6946A>C c.(6946-6948)Acc>Ccc p.T2316P PAAD 12 112646316 112646316 + Silent SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr12:112646316G>A c.6720C>T c.(6718-6720)gaC>gaT p.D2240D PAAD 12 112667558 112667558 + Missense_Mutation SNP C C A TCGA-2L-AAQA-01A-21D-A38G-08 TCGA-2L-AAQA-11A-11D-A38J-08 g.chr12:112667558C>A c.5197G>T c.(5197-5199)Gca>Tca p.A1733S PAAD 12 112708208 112708208 + Silent SNP C C A TCGA-HZ-A77Q-01A-11D-A36O-08 TCGA-HZ-A77Q-10A-01D-A367-08 g.chr12:112708208C>A c.702G>T c.(700-702)gcG>gcT p.A234A PCPG 12 112654134 112654135 + Frame_Shift_Del DEL TG TG - TCGA-S7-A7WX-01A-11D-A35I-08 TCGA-S7-A7WX-10A-01D-A35G-08 g.chr12:112654134_112654135delTG c.6160_6161delCA c.(6160-6162)cagfs p.Q2054fs PRAD 12 112608163 112608163 + Missense_Mutation SNP G G T TCGA-ZG-A9NI-01A-11D-A41K-08 TCGA-ZG-A9NI-10A-01D-A41N-08 g.chr12:112608163G>T c.10760C>A c.(10759-10761)aCc>aAc p.T3587N PRAD 12 112616740 112616740 + Silent SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr12:112616740G>A c.10092C>T c.(10090-10092)agC>agT p.S3364S PRAD 12 112622030 112622030 + Silent SNP G G T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr12:112622030G>T c.9474C>A c.(9472-9474)ccC>ccA p.P3158P PRAD 12 112622183 112622183 + Silent SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr12:112622183C>T c.9321G>A c.(9319-9321)gcG>gcA p.A3107A PRAD 12 112622525 112622525 + Silent SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr12:112622525G>A c.8979C>T c.(8977-8979)ggC>ggT p.G2993G PRAD 12 112622677 112622677 + Missense_Mutation SNP G G A TCGA-ZG-A9N3-01A-11D-A41K-08 TCGA-ZG-A9N3-10A-01D-A41N-08 g.chr12:112622677G>A c.8827C>T c.(8827-8829)Cgc>Tgc p.R2943C PRAD 12 112622883 112622885 + In_Frame_Del DEL GAG GAG - TCGA-HC-7747-01A-11D-2114-08 TCGA-HC-7747-10A-01D-2115-08 g.chr12:112622883_112622885delGAG c.8619_8621delCTC c.(8617-8622)tcctcg>tcg p.2873_2874SS>S PRAD 12 112632752 112632752 + Missense_Mutation SNP G G A TCGA-J4-8200-01A-11D-A29Q-08 TCGA-J4-8200-10A-01D-A29Q-08 g.chr12:112632752G>A c.7420C>T c.(7420-7422)Cgg>Tgg p.R2474W PRAD 12 112650410 112650411 + Frame_Shift_Del DEL GT GT - TCGA-J9-A52C-01A-11D-A26M-08 TCGA-J9-A52C-10A-01D-A26K-08 g.chr12:112650410_112650411delGT c.6243_6244delAC c.(6241-6246)ccacctfs p.PP2081fs PRAD 12 112666494 112666494 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr12:112666494G>A c.5375C>T c.(5374-5376)aCa>aTa p.T1792I PRAD 12 112667566 112667566 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr12:112667566G>A c.5189C>T c.(5188-5190)gCc>gTc p.A1730V PRAD 12 112672997 112672997 + Silent SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr12:112672997G>A c.4533C>T c.(4531-4533)tcC>tcT p.S1511S PRAD 12 112673539 112673539 + Missense_Mutation SNP G G A TCGA-FC-7708-01A-11D-2114-08 TCGA-FC-7708-10A-01D-2115-08 g.chr12:112673539G>A c.4228C>T c.(4228-4230)Ctc>Ttc p.L1410F PRAD 12 112708216 112708216 + Missense_Mutation SNP C C T TCGA-KK-A59V-01A-11D-A29Q-08 TCGA-KK-A59V-11A-11D-A29Q-08 g.chr12:112708216C>T c.694G>A c.(694-696)Gtt>Att p.V232I PRAD 12 112711577 112711577 + Silent SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr12:112711577G>A c.528C>T c.(526-528)aaC>aaT p.N176N PRAD 12 112717041 112717041 + Missense_Mutation SNP A A G TCGA-EJ-5499-01A-01D-1576-08 TCGA-EJ-5499-10A-01D-1577-08 g.chr12:112717041A>G c.496T>C c.(496-498)Tct>Cct p.S166P READ 12 112601455 112601455 + Missense_Mutation SNP C C T TCGA-AF-2687-01A-02D-1733-10 TCGA-AF-2687-10A-01D-1733-10 g.chr12:112601455C>T c.11522G>A c.(11521-11523)cGg>cAg p.R3841Q READ 12 112617047 112617047 + Silent SNP G G C TCGA-AG-A026-01A-32W-A096-10 TCGA-AG-A026-10A-01W-A096-10 g.chr12:112617047G>C c.9876C>G c.(9874-9876)ggC>ggG p.G3292G READ 12 112638547 112638547 + Missense_Mutation SNP C C T TCGA-AG-A025-01A-01W-A00E-09 TCGA-AG-A025-10A-01W-A00E-09 g.chr12:112638547C>T c.7196G>A c.(7195-7197)cGa>cAa p.R2399Q READ 12 112654696 112654696 + Silent SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:112654696G>A c.6000C>T c.(5998-6000)atC>atT p.I2000I READ 12 112684854 112684854 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:112684854G>T c.3098C>A c.(3097-3099)tCt>tAt p.S1033Y READ 12 112708081 112708081 + Missense_Mutation SNP T T C TCGA-AG-4008-01A-01W-1073-09 TCGA-AG-4008-10A-01W-1073-09 g.chr12:112708081T>C c.829A>G c.(829-831)Atg>Gtg p.M277V SARC 12 112601463 112601463 + Silent SNP C C T TCGA-DX-AB32-01A-11D-A417-09 TCGA-DX-AB32-10A-01D-A41A-09 g.chr12:112601463C>T c.11514G>A c.(11512-11514)acG>acA p.T3838T SARC 12 112601934 112601934 + Missense_Mutation SNP C C T TCGA-DX-A3LW-01A-21D-A21Q-09 TCGA-DX-A3LW-10A-01D-A21Q-09 g.chr12:112601934C>T c.11414G>A c.(11413-11415)cGg>cAg p.R3805Q SARC 12 112630518 112630518 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 g.chr12:112630518G>A c.7872C>T c.(7870-7872)ggC>ggT p.G2624G SARC 12 112631418 112631418 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 g.chr12:112631418G>A c.7544C>T c.(7543-7545)tCc>tTc p.S2515F SARC 12 112638508 112638508 + Missense_Mutation SNP G G A TCGA-SG-A849-01A-11D-A351-09 TCGA-SG-A849-10A-01D-A351-09 g.chr12:112638508G>A c.7235C>T c.(7234-7236)gCa>gTa p.A2412V SKCM 12 112600322 112600322 + Missense_Mutation SNP G G A TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr12:112600322G>A c.11860C>T c.(11860-11862)Cca>Tca p.P3954S SKCM 12 112600860 112600860 + Frame_Shift_Del DEL G G - TCGA-EE-A2A2-06A-11D-A196-08 TCGA-EE-A2A2-10A-01D-A198-08 g.chr12:112600860delG c.11840delC c.(11839-11841)ccafs p.P3947fs SKCM 12 112607316 112607316 + Missense_Mutation SNP G G A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 g.chr12:112607316G>A c.10933C>T c.(10933-10935)Cat>Tat p.H3645Y SKCM 12 112608218 112608218 + Nonsense_Mutation SNP G G A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 g.chr12:112608218G>A c.10705C>T c.(10705-10707)Cga>Tga p.R3569* SKCM 12 112608237 112608237 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 g.chr12:112608237C>T c.10686G>A c.(10684-10686)acG>acA p.T3562T SKCM 12 112608926 112608926 + Missense_Mutation SNP G G A TCGA-EE-A29N-06A-12D-A197-08 TCGA-EE-A29N-10A-01D-A199-08 g.chr12:112608926G>A c.10661C>T c.(10660-10662)gCc>gTc p.A3554V SKCM 12 112610513 112610513 + Missense_Mutation SNP G G A TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr12:112610513G>A c.10481C>T c.(10480-10482)cCc>cTc p.P3494L SKCM 12 112614442 112614442 + Missense_Mutation SNP C C T TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 g.chr12:112614442C>T c.10162G>A c.(10162-10164)Gat>Aat p.D3388N SKCM 12 112616802 112616802 + Missense_Mutation SNP C C A TCGA-D3-A1Q6-06A-11D-A196-08 TCGA-D3-A1Q6-10A-01D-A198-08 g.chr12:112616802C>A c.10030G>T c.(10030-10032)Gtg>Ttg p.V3344L SKCM 12 112616865 112616865 + Missense_Mutation SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 g.chr12:112616865G>A c.9967C>T c.(9967-9969)Cca>Tca p.P3323S SKCM 12 112622260 112622260 + Missense_Mutation SNP C C T TCGA-EE-A2MN-06A-11D-A197-08 TCGA-EE-A2MN-10A-01D-A199-08 g.chr12:112622260C>T c.9244G>A c.(9244-9246)Gtc>Atc p.V3082I SKCM 12 112622317 112622317 + Missense_Mutation SNP C C T TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr12:112622317C>T c.9187G>A c.(9187-9189)Gcc>Acc p.A3063T SKCM 12 112622378 112622378 + Silent SNP G G A TCGA-ER-A19W-06A-41D-A23B-08 TCGA-ER-A19W-10A-01D-A23B-08 g.chr12:112622378G>A c.9126C>T c.(9124-9126)ccC>ccT p.P3042P SKCM 12 112622399 112622399 + Silent SNP G G A TCGA-FS-A1ZC-06A-11D-A197-08 TCGA-FS-A1ZC-10A-01D-A199-08 g.chr12:112622399G>A c.9105C>T c.(9103-9105)ccC>ccT p.P3035P SKCM 12 112622400 112622400 + Missense_Mutation SNP G G A TCGA-FS-A1ZC-06A-11D-A197-08 TCGA-FS-A1ZC-10A-01D-A199-08 g.chr12:112622400G>A c.9104C>T c.(9103-9105)cCc>cTc p.P3035L SKCM 12 112622448 112622448 + Missense_Mutation SNP G G A TCGA-EE-A29P-06A-11D-A197-08 TCGA-EE-A29P-10A-01D-A199-08 g.chr12:112622448G>A c.9056C>T c.(9055-9057)aCc>aTc p.T3019I SKCM 12 112622519 112622519 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr12:112622519G>A c.8985C>T c.(8983-8985)atC>atT p.I2995I SKCM 12 112622558 112622558 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 g.chr12:112622558G>A c.8946C>T c.(8944-8946)atC>atT p.I2982I SKCM 12 112622727 112622727 + Missense_Mutation SNP G G A TCGA-FR-A3YN-06A-11D-A23B-08 TCGA-FR-A3YN-10A-01D-A23B-08 g.chr12:112622727G>A c.8777C>T c.(8776-8778)cCc>cTc p.P2926L SKCM 12 112622799 112622799 + Missense_Mutation SNP G G A TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr12:112622799G>A c.8705C>T c.(8704-8706)tCg>tTg p.S2902L SKCM 12 112622883 112622885 + In_Frame_Del DEL GAG GAG - TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 g.chr12:112622883_112622885delGAG c.8619_8621delCTC c.(8617-8622)tcctcg>tcg p.2873_2874SS>S SKCM 12 112630426 112630426 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 g.chr12:112630426G>A c.7964C>T c.(7963-7965)cCc>cTc p.P2655L SKCM 12 112631297 112631297 + Silent SNP C C T TCGA-D3-A1Q8-06A-11D-A19A-08 TCGA-D3-A1Q8-10A-01D-A19A-08 g.chr12:112631297C>T c.7665G>A c.(7663-7665)acG>acA p.T2555T SKCM 12 112632753 112632753 + Silent SNP G G A TCGA-D3-A2JK-06A-11D-A196-08 TCGA-D3-A2JK-10A-01D-A198-08 g.chr12:112632753G>A c.7419C>T c.(7417-7419)atC>atT p.I2473I SKCM 12 112638535 112638535 + Missense_Mutation SNP G G A TCGA-D3-A1QA-06A-11D-A196-08 TCGA-D3-A1QA-10A-01D-A198-08 g.chr12:112638535G>A c.7208C>T c.(7207-7209)cCt>cTt p.P2403L SKCM 12 112645736 112645736 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr12:112645736G>A c.6807C>T c.(6805-6807)ttC>ttT p.F2269F SKCM 12 112645751 112645751 + Silent SNP G G A TCGA-EE-A2GM-06B-11D-A196-08 TCGA-EE-A2GM-10A-01D-A198-08 g.chr12:112645751G>A c.6792C>T c.(6790-6792)acC>acT p.T2264T SKCM 12 112646369 112646369 + Missense_Mutation SNP C C T TCGA-EE-A2A1-06A-11D-A197-08 TCGA-EE-A2A1-10A-01D-A199-08 g.chr12:112646369C>T c.6667G>A c.(6667-6669)Ggc>Agc p.G2223S SKCM 12 112647831 112647831 + Missense_Mutation SNP T T A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 g.chr12:112647831T>A c.6589A>T c.(6589-6591)Acc>Tcc p.T2197S SKCM 12 112647993 112647993 + Missense_Mutation SNP G G A TCGA-D3-A3C8-06A-12D-A19A-08 TCGA-D3-A3C8-10A-01D-A19A-08 g.chr12:112647993G>A c.6427C>T c.(6427-6429)Cgc>Tgc p.R2143C SKCM 12 112648045 112648045 + Silent SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chr12:112648045G>A c.6375C>T c.(6373-6375)acC>acT p.T2125T SKCM 12 112650372 112650372 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 g.chr12:112650372G>A c.6282C>T c.(6280-6282)ttC>ttT p.F2094F SKCM 12 112650407 112650407 + Missense_Mutation SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 g.chr12:112650407G>A c.6247C>T c.(6247-6249)Cct>Tct p.P2083S SKCM 12 112650418 112650418 + Missense_Mutation SNP C C T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 g.chr12:112650418C>T c.6236G>A c.(6235-6237)gGg>gAg p.G2079E SKCM 12 112654696 112654696 + Silent SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 g.chr12:112654696G>A c.6000C>T c.(5998-6000)atC>atT p.I2000I SKCM 12 112654721 112654721 + Missense_Mutation SNP G G A TCGA-DA-A1HW-06A-11D-A19A-08 TCGA-DA-A1HW-10A-01D-A19A-08 g.chr12:112654721G>A c.5975C>T c.(5974-5976)cCg>cTg p.P1992L SKCM 12 112667565 112667565 + Silent SNP G G A TCGA-EE-A20F-06A-21D-A196-08 TCGA-EE-A20F-10A-01D-A198-08 g.chr12:112667565G>A c.5190C>T c.(5188-5190)gcC>gcT p.A1730A SKCM 12 112669439 112669439 + Silent SNP G G A TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 g.chr12:112669439G>A c.4812C>T c.(4810-4812)atC>atT p.I1604I SKCM 12 112669444 112669444 + Missense_Mutation SNP G G A TCGA-FS-A1ZC-06A-11D-A197-08 TCGA-FS-A1ZC-10A-01D-A199-08 g.chr12:112669444G>A c.4807C>T c.(4807-4809)Ctc>Ttc p.L1603F SKCM 12 112672931 112672931 + Silent SNP G G A TCGA-D3-A2JL-06A-11D-A196-08 TCGA-D3-A2JL-10A-01D-A198-08 g.chr12:112672931G>A c.4599C>T c.(4597-4599)atC>atT p.I1533I SKCM 12 112673321 112673321 + Missense_Mutation SNP A A T TCGA-EE-A3J5-06A-11D-A20D-08 TCGA-EE-A3J5-10A-01D-A20D-08 g.chr12:112673321A>T c.4446T>A c.(4444-4446)gaT>gaA p.D1482E SKCM 12 112673402 112673402 + Silent SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 g.chr12:112673402G>A c.4365C>T c.(4363-4365)gtC>gtT p.V1455V SKCM 12 112674890 112674890 + Missense_Mutation SNP T T A TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr12:112674890T>A c.4037A>T c.(4036-4038)gAg>gTg p.E1346V SKCM 12 112676998 112676998 + Silent SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 g.chr12:112676998G>A c.3882C>T c.(3880-3882)ctC>ctT p.L1294L SKCM 12 112677020 112677020 + Missense_Mutation SNP A A G TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr12:112677020A>G c.3860T>C c.(3859-3861)gTa>gCa p.V1287A SKCM 12 112677814 112677814 + Missense_Mutation SNP C C T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 g.chr12:112677814C>T c.3710G>A c.(3709-3711)tGt>tAt p.C1237Y SKCM 12 112684754 112684754 + Silent SNP G G A TCGA-D3-A5GR-06A-11D-A27K-08 TCGA-D3-A5GR-10A-01D-A27N-08 g.chr12:112684754G>A c.3198C>T c.(3196-3198)gcC>gcT p.A1066A SKCM 12 112686220 112686220 + Silent SNP G G A TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr12:112686220G>A c.2781C>T c.(2779-2781)ttC>ttT p.F927F SKCM 12 112688077 112688077 + Missense_Mutation SNP G G A TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 g.chr12:112688077G>A c.2555C>T c.(2554-2556)cCc>cTc p.P852L SKCM 12 112690352 112690352 + Missense_Mutation SNP G G A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 g.chr12:112690352G>A c.2162C>T c.(2161-2163)cCc>cTc p.P721L SKCM 12 112691863 112691863 + Missense_Mutation SNP G G A TCGA-DA-A1HW-06A-11D-A19A-08 TCGA-DA-A1HW-10A-01D-A19A-08 g.chr12:112691863G>A c.2135C>T c.(2134-2136)cCg>cTg p.P712L SKCM 12 112694273 112694273 + Missense_Mutation SNP G G T TCGA-GN-A4U4-06A-11D-A32N-08 TCGA-GN-A4U4-10B-01D-A32N-08 g.chr12:112694273G>T c.1882C>A c.(1882-1884)Cct>Act p.P628T SKCM 12 112699194 112699194 + Silent SNP G G A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 g.chr12:112699194G>A c.1492C>T c.(1492-1494)Ctg>Ttg p.L498L SKCM 12 112707633 112707633 + Silent SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 g.chr12:112707633G>A c.900C>T c.(898-900)ttC>ttT p.F300F SKCM 12 112717094 112717094 + Missense_Mutation SNP C C A TCGA-RP-A695-06A-11D-A30X-08 TCGA-RP-A695-10A-01D-A30X-08 g.chr12:112717094C>A c.443G>T c.(442-444)gGa>gTa p.G148V SKCM 12 112717095 112717095 + Missense_Mutation SNP C C T TCGA-RP-A695-06A-11D-A30X-08 TCGA-RP-A695-10A-01D-A30X-08 g.chr12:112717095C>T c.442G>A c.(442-444)Gga>Aga p.G148R SKCM 12 112744000 112744000 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr12:112744000G>A c.21C>T c.(19-21)ccC>ccT p.P7P

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation ALL-US 12 112673379 112673379 single base substitution T C missense_variant E1463G 4388A>G ALL-US 12 112673379 112673379 single base substitution T C missense_variant E1713G 5138A>G ALL-US 12 112673379 112673379 single base substitution T C missense_variant E1739G 5216A>G ALL-US 12 112673379 112673379 single base substitution T C upstream_gene_variant BLCA-CN 12 112613575 112613575 single base substitution C T synonymous_variant A3431A 10293G>A BLCA-CN 12 112613575 112613575 single base substitution C T synonymous_variant A3681A 11043G>A BLCA-CN 12 112613575 112613575 single base substitution C T synonymous_variant A3707A 11121G>A BLCA-CN 12 112613575 112613575 single base substitution C T synonymous_variant A65A 195G>A BLCA-US 12 112605677 112605677 single base substitution G A downstream_gene_variant BLCA-US 12 112605677 112605677 single base substitution G A exon_variant BLCA-US 12 112605677 112605677 single base substitution G A stop_gained Q3663* 10987C>T BLCA-US 12 112605677 112605677 single base substitution G A stop_gained Q3913* 11737C>T BLCA-US 12 112605677 112605677 single base substitution G A stop_gained Q3939* 11815C>T BLCA-US 12 112608964 112608964 single base substitution G A synonymous_variant P203P 609C>T BLCA-US 12 112608964 112608964 single base substitution G A synonymous_variant P3541P 10623C>T BLCA-US 12 112608964 112608964 single base substitution G A synonymous_variant P3791P 11373C>T BLCA-US 12 112608964 112608964 single base substitution G A synonymous_variant P3817P 11451C>T BLCA-US 12 112608964 112608964 single base substitution G A upstream_gene_variant BLCA-US 12 112609068 112609068 single base substitution C T missense_variant D169N 505G>A BLCA-US 12 112609068 112609068 single base substitution C T splice_acceptor_variant BLCA-US 12 112609068 112609068 single base substitution C T upstream_gene_variant BLCA-US 12 112664513 112664513 single base substitution C G exon_variant BLCA-US 12 112664513 112664513 single base substitution C G missense_variant E1880Q 5638G>C BLCA-US 12 112664513 112664513 single base substitution C G missense_variant E2130Q 6388G>C BLCA-US 12 112664513 112664513 single base substitution C G missense_variant E2156Q 6466G>C BLCA-US 12 112666449 112666449 single base substitution A G splice_donor_variant BLCA-US 12 112666449 112666449 single base substitution A G upstream_gene_variant BLCA-US 12 112670808 112670808 single base substitution C G missense_variant K1577N 4731G>C BLCA-US 12 112670808 112670808 single base substitution C G missense_variant K1827N 5481G>C BLCA-US 12 112670808 112670808 single base substitution C G missense_variant K1853N 5559G>C BLCA-US 12 112670808 112670808 single base substitution C G upstream_gene_variant BLCA-US 12 112681690 112681690 single base substitution C T missense_variant R1124K 3371G>A BLCA-US 12 112681690 112681690 single base substitution C T missense_variant R1374K 4121G>A BLCA-US 12 112681690 112681690 single base substitution C T missense_variant R1400K 4199G>A BLCA-US 12 112685315 112685315 single base substitution C T downstream_gene_variant BLCA-US 12 112685315 112685315 single base substitution C T missense_variant E1008K 3022G>A BLCA-US 12 112685315 112685315 single base substitution C T missense_variant E1258K 3772G>A BLCA-US 12 112685315 112685315 single base substitution C T missense_variant E1284K 3850G>A BLCA-US 12 112694164 112694164 single base substitution C G downstream_gene_variant BLCA-US 12 112694164 112694164 single base substitution C G exon_variant BLCA-US 12 112694164 112694164 single base substitution C G missense_variant R664T 1991G>C BLCA-US 12 112694164 112694164 single base substitution C G missense_variant R914T 2741G>C BLCA-US 12 112694164 112694164 single base substitution C G missense_variant R950T 2849G>C BLCA-US 12 112696955 112696955 single base substitution C G exon_variant BLCA-US 12 112696955 112696955 single base substitution C G synonymous_variant L564L 1692G>C BLCA-US 12 112696955 112696955 single base substitution C G synonymous_variant L814L 2442G>C BLCA-US 12 112696955 112696955 single base substitution C G synonymous_variant L850L 2550G>C BLCA-US 12 112707527 112707527 single base substitution C T exon_variant BLCA-US 12 112707527 112707527 single base substitution C T missense_variant E14K 40G>A BLCA-US 12 112707527 112707527 single base substitution C T missense_variant E336K 1006G>A BLCA-US 12 112707527 112707527 single base substitution C T missense_variant E586K 1756G>A BLCA-US 12 112707527 112707527 single base substitution C T missense_variant E624K 1870G>A BLCA-US 12 112720937 112720937 single base substitution T C intron_variant BLCA-US 12 112720937 112720937 single base substitution T C missense_variant N108S 323A>G BLCA-US 12 112720937 112720937 single base substitution T C missense_variant N358S 1073A>G BOCA-FR 12 112600526 112600526 single base substitution G A downstream_gene_variant BOCA-FR 12 112600526 112600526 single base substitution G A intron_variant BOCA-FR 12 112600526 112600526 single base substitution G A upstream_gene_variant BOCA-FR 12 112632713 112632713 single base substitution G T downstream_gene_variant BOCA-FR 12 112632713 112632713 single base substitution G T missense_variant Q2487K 7459C>A BOCA-FR 12 112632713 112632713 single base substitution G T missense_variant Q2737K 8209C>A BOCA-FR 12 112632713 112632713 single base substitution G T missense_variant Q2763K 8287C>A BOCA-FR 12 112638436 112638436 single base substitution T C downstream_gene_variant BOCA-FR 12 112638436 112638436 single base substitution T C splice_region_variant BOCA-FR 12 112671405 112671405 single base substitution A G intron_variant BOCA-FR 12 112671405 112671405 single base substitution A G upstream_gene_variant BRCA-EU 12 112593596 112593596 single base substitution C G downstream_gene_variant BRCA-EU 12 112593643 112593643 insertion of <=200bp - T downstream_gene_variant BRCA-EU 12 112594097 112594097 single base substitution T C downstream_gene_variant BRCA-EU 12 112594358 112594358 single base substitution G C downstream_gene_variant BRCA-EU 12 112595611 112595611 single base substitution C T downstream_gene_variant BRCA-EU 12 112595677 112595677 single base substitution G A downstream_gene_variant BRCA-EU 12 112595742 112595758 deletion of <=200bp ACTTTATTTCATTAAGT - downstream_gene_variant BRCA-EU 12 112597515 112597515 single base substitution G A downstream_gene_variant BRCA-EU 12 112597575 112597575 single base substitution G C downstream_gene_variant BRCA-EU 12 112598376 112598376 single base substitution C T 3_prime_UTR_variant BRCA-EU 12 112598376 112598376 single base substitution C T downstream_gene_variant BRCA-EU 12 112598376 112598376 single base substitution C T exon_variant BRCA-EU 12 112598868 112598868 single base substitution G A 3_prime_UTR_variant BRCA-EU 12 112598868 112598868 single base substitution G A downstream_gene_variant BRCA-EU 12 112598868 112598868 single base substitution G A exon_variant BRCA-EU 12 112598868 112598868 single base substitution G A intron_variant BRCA-EU 12 112600122 112600122 single base substitution G A 3_prime_UTR_variant BRCA-EU 12 112600122 112600122 single base substitution G A downstream_gene_variant BRCA-EU 12 112600122 112600122 single base substitution G A upstream_gene_variant BRCA-EU 12 112601577 112601577 single base substitution C T downstream_gene_variant BRCA-EU 12 112601577 112601577 single base substitution C T intron_variant BRCA-EU 12 112601577 112601577 single base substitution C T upstream_gene_variant BRCA-EU 12 112604603 112604603 single base substitution C T downstream_gene_variant BRCA-EU 12 112604603 112604603 single base substitution C T exon_variant BRCA-EU 12 112604603 112604603 single base substitution C T intron_variant BRCA-EU 12 112604603 112604603 single base substitution C T upstream_gene_variant BRCA-EU 12 112605139 112605139 single base substitution G A downstream_gene_variant BRCA-EU 12 112605139 112605139 single base substitution G A exon_variant BRCA-EU 12 112605139 112605139 single base substitution G A synonymous_variant Y3750Y 11250C>T BRCA-EU 12 112605139 112605139 single base substitution G A synonymous_variant Y4000Y 12000C>T BRCA-EU 12 112605139 112605139 single base substitution G A synonymous_variant Y4026Y 12078C>T BRCA-EU 12 112605881 112605881 single base substitution G A downstream_gene_variant BRCA-EU 12 112605881 112605881 single base substitution G A intron_variant BRCA-EU 12 112605881 112605881 single base substitution G A upstream_gene_variant BRCA-EU 12 112606989 112606989 single base substitution C A downstream_gene_variant BRCA-EU 12 112606989 112606989 single base substitution C A intron_variant BRCA-EU 12 112606989 112606989 single base substitution C A upstream_gene_variant BRCA-EU 12 112608093 112608093 single base substitution G T downstream_gene_variant BRCA-EU 12 112608093 112608093 single base substitution G T intron_variant BRCA-EU 12 112608093 112608093 single base substitution G T upstream_gene_variant BRCA-EU 12 112608325 112608325 single base substitution C T downstream_gene_variant BRCA-EU 12 112608325 112608325 single base substitution C T intron_variant BRCA-EU 12 112608325 112608325 single base substitution C T upstream_gene_variant BRCA-EU 12 112609940 112609940 single base substitution C G intron_variant BRCA-EU 12 112609940 112609940 single base substitution C G upstream_gene_variant BRCA-EU 12 112611532 112611532 single base substitution G A intron_variant BRCA-EU 12 112611532 112611532 single base substitution G A upstream_gene_variant BRCA-EU 12 112612305 112612305 single base substitution G A intron_variant BRCA-EU 12 112612305 112612305 single base substitution G A upstream_gene_variant BRCA-EU 12 112613088 112613088 single base substitution G A intron_variant BRCA-EU 12 112613283 112613283 single base substitution C T intron_variant BRCA-EU 12 112613296 112613296 single base substitution C T intron_variant BRCA-EU 12 112613315 112613315 single base substitution C G intron_variant BRCA-EU 12 112614643 112614643 single base substitution C G intron_variant BRCA-EU 12 112614643 112614643 single base substitution C G upstream_gene_variant BRCA-EU 12 112615005 112615005 single base substitution G T intron_variant BRCA-EU 12 112615005 112615005 single base substitution G T upstream_gene_variant BRCA-EU 12 112615382 112615382 single base substitution C A intron_variant BRCA-EU 12 112615382 112615382 single base substitution C A upstream_gene_variant BRCA-EU 12 112617869 112617869 single base substitution G C intron_variant BRCA-EU 12 112617869 112617869 single base substitution G C upstream_gene_variant BRCA-EU 12 112618310 112618310 single base substitution G A intron_variant BRCA-EU 12 112618310 112618310 single base substitution G A upstream_gene_variant BRCA-EU 12 112619285 112619285 deletion of <=200bp T - intron_variant BRCA-EU 12 112619285 112619285 deletion of <=200bp T - upstream_gene_variant BRCA-EU 12 112619412 112619412 single base substitution A G intron_variant BRCA-EU 12 112619412 112619412 single base substitution A G upstream_gene_variant BRCA-EU 12 112621455 112621455 single base substitution A C intron_variant BRCA-EU 12 112622024 112622024 single base substitution G A synonymous_variant A3160A 9480C>T BRCA-EU 12 112622024 112622024 single base substitution G A synonymous_variant A3410A 10230C>T BRCA-EU 12 112622024 112622024 single base substitution G A synonymous_variant A3436A 10308C>T BRCA-EU 12 112623152 112623152 single base substitution G C missense_variant N2784K 8352C>G BRCA-EU 12 112623152 112623152 single base substitution G C missense_variant N3034K 9102C>G BRCA-EU 12 112623152 112623152 single base substitution G C missense_variant N3060K 9180C>G BRCA-EU 12 112626012 112626012 single base substitution G A intron_variant BRCA-EU 12 112626080 112626080 single base substitution G A intron_variant BRCA-EU 12 112626293 112626293 single base substitution G A intron_variant BRCA-EU 12 112626665 112626665 single base substitution C T intron_variant BRCA-EU 12 112628165 112628165 single base substitution G A downstream_gene_variant BRCA-EU 12 112628165 112628165 single base substitution G A intron_variant BRCA-EU 12 112629227 112629227 single base substitution C A downstream_gene_variant BRCA-EU 12 112629227 112629227 single base substitution C A intron_variant BRCA-EU 12 112629632 112629632 single base substitution G C downstream_gene_variant BRCA-EU 12 112629632 112629632 single base substitution G C intron_variant BRCA-EU 12 112630238 112630238 single base substitution G A downstream_gene_variant BRCA-EU 12 112630238 112630238 single base substitution G A intron_variant BRCA-EU 12 112631848 112631848 single base substitution G A downstream_gene_variant BRCA-EU 12 112631848 112631848 single base substitution G A intron_variant BRCA-EU 12 112632734 112632734 single base substitution G A downstream_gene_variant BRCA-EU 12 112632734 112632734 single base substitution G A missense_variant H2480Y 7438C>T BRCA-EU 12 112632734 112632734 single base substitution G A missense_variant H2730Y 8188C>T BRCA-EU 12 112632734 112632734 single base substitution G A missense_variant H2756Y 8266C>T BRCA-EU 12 112633974 112633974 single base substitution C T intron_variant BRCA-EU 12 112634603 112634603 insertion of <=200bp - T intron_variant BRCA-EU 12 112637830 112637830 single base substitution G A downstream_gene_variant BRCA-EU 12 112637830 112637830 single base substitution G A intron_variant BRCA-EU 12 112640970 112640970 single base substitution T G exon_variant BRCA-EU 12 112640970 112640970 single base substitution T G intron_variant BRCA-EU 12 112640970 112640970 single base substitution T G upstream_gene_variant BRCA-EU 12 112641852 112641852 single base substitution T C intron_variant BRCA-EU 12 112641852 112641852 single base substitution T C upstream_gene_variant BRCA-EU 12 112641889 112641889 single base substitution C A intron_variant BRCA-EU 12 112641889 112641889 single base substitution C A upstream_gene_variant BRCA-EU 12 112644199 112644199 single base substitution T C intron_variant BRCA-EU 12 112644199 112644199 single base substitution T C upstream_gene_variant BRCA-EU 12 112644294 112644294 single base substitution C G intron_variant BRCA-EU 12 112644730 112644730 single base substitution G A intron_variant BRCA-EU 12 112644848 112644848 single base substitution C G intron_variant BRCA-EU 12 112645344 112645344 single base substitution G C intron_variant BRCA-EU 12 112646153 112646153 single base substitution C T intron_variant BRCA-EU 12 112647350 112647350 single base substitution G A intron_variant BRCA-EU 12 112647381 112647381 single base substitution C T intron_variant BRCA-EU 12 112648459 112648459 single base substitution C T intron_variant BRCA-EU 12 112648470 112648470 single base substitution A G intron_variant BRCA-EU 12 112648975 112648975 single base substitution G T intron_variant BRCA-EU 12 112650053 112650053 deletion of <=200bp A - downstream_gene_variant BRCA-EU 12 112650053 112650053 deletion of <=200bp A - intron_variant BRCA-EU 12 112650105 112650105 single base substitution G A downstream_gene_variant BRCA-EU 12 112650105 112650105 single base substitution G A intron_variant BRCA-EU 12 112650169 112650169 single base substitution C T downstream_gene_variant BRCA-EU 12 112650169 112650169 single base substitution C T intron_variant BRCA-EU 12 112651136 112651136 single base substitution C T downstream_gene_variant BRCA-EU 12 112651136 112651136 single base substitution C T intron_variant BRCA-EU 12 112651842 112651842 insertion of <=200bp - A downstream_gene_variant BRCA-EU 12 112651842 112651842 insertion of <=200bp - A intron_variant BRCA-EU 12 112653594 112653594 single base substitution C A downstream_gene_variant BRCA-EU 12 112653594 112653594 single base substitution C A intron_variant BRCA-EU 12 112654262 112654262 insertion of <=200bp - G downstream_gene_variant BRCA-EU 12 112654262 112654262 insertion of <=200bp - G intron_variant BRCA-EU 12 112655300 112655300 single base substitution G T intron_variant BRCA-EU 12 112655503 112655503 single base substitution T A intron_variant BRCA-EU 12 112656547 112656547 single base substitution C A intron_variant BRCA-EU 12 112657087 112657087 single base substitution G A intron_variant BRCA-EU 12 112658543 112658543 single base substitution G T intron_variant BRCA-EU 12 112658543 112658543 single base substitution G T upstream_gene_variant BRCA-EU 12 112658862 112658862 single base substitution C T intron_variant BRCA-EU 12 112658862 112658862 single base substitution C T upstream_gene_variant BRCA-EU 12 112660786 112660786 single base substitution G C downstream_gene_variant BRCA-EU 12 112660786 112660786 single base substitution G C intron_variant BRCA-EU 12 112660786 112660786 single base substitution G C upstream_gene_variant BRCA-EU 12 112661645 112661645 single base substitution T C downstream_gene_variant BRCA-EU 12 112661645 112661645 single base substitution T C intron_variant BRCA-EU 12 112661645 112661645 single base substitution T C upstream_gene_variant BRCA-EU 12 112663969 112663969 single base substitution C G downstream_gene_variant BRCA-EU 12 112663969 112663969 single base substitution C G intron_variant BRCA-EU 12 112664629 112664629 single base substitution G A intron_variant BRCA-EU 12 112665213 112665213 single base substitution G A intron_variant BRCA-EU 12 112665265 112665265 deletion of <=200bp A - intron_variant BRCA-EU 12 112666265 112666265 single base substitution C T intron_variant BRCA-EU 12 112666265 112666265 single base substitution C T upstream_gene_variant BRCA-EU 12 112667080 112667080 single base substitution G A intron_variant BRCA-EU 12 112667080 112667080 single base substitution G A upstream_gene_variant BRCA-EU 12 112667681 112667681 single base substitution G C exon_variant BRCA-EU 12 112667681 112667681 single base substitution G C missense_variant L1692V 5074C>G BRCA-EU 12 112667681 112667681 single base substitution G C missense_variant L1942V 5824C>G BRCA-EU 12 112667681 112667681 single base substitution G C missense_variant L1968V 5902C>G BRCA-EU 12 112667681 112667681 single base substitution G C upstream_gene_variant BRCA-EU 12 112671135 112671135 single base substitution T C intron_variant BRCA-EU 12 112671135 112671135 single base substitution T C upstream_gene_variant BRCA-EU 12 112672132 112672132 single base substitution C T intron_variant BRCA-EU 12 112672132 112672132 single base substitution C T upstream_gene_variant BRCA-EU 12 112674452 112674452 single base substitution G A intron_variant BRCA-EU 12 112674929 112674929 single base substitution A T intron_variant BRCA-EU 12 112675929 112675929 single base substitution C G intron_variant BRCA-EU 12 112676372 112676372 single base substitution A G intron_variant BRCA-EU 12 112676975 112676975 single base substitution C G missense_variant S1302T 3905G>C BRCA-EU 12 112676975 112676975 single base substitution C G missense_variant S1552T 4655G>C BRCA-EU 12 112676975 112676975 single base substitution C G missense_variant S1578T 4733G>C BRCA-EU 12 112677403 112677403 single base substitution C T intron_variant BRCA-EU 12 112677536 112677536 single base substitution C A intron_variant BRCA-EU 12 112677912 112677912 single base substitution T G intron_variant BRCA-EU 12 112680783 112680783 single base substitution C T intron_variant BRCA-EU 12 112681509 112681509 single base substitution G A missense_variant A1147V 3440C>T BRCA-EU 12 112681509 112681509 single base substitution G A missense_variant A1397V 4190C>T BRCA-EU 12 112681509 112681509 single base substitution G A missense_variant A1423V 4268C>T BRCA-EU 12 112691812 112691812 single base substitution C G downstream_gene_variant BRCA-EU 12 112691812 112691812 single base substitution C G intron_variant BRCA-EU 12 112691994 112691994 single base substitution C T downstream_gene_variant BRCA-EU 12 112691994 112691994 single base substitution C T intron_variant BRCA-EU 12 112695495 112695495 single base substitution G C downstream_gene_variant BRCA-EU 12 112695495 112695495 single base substitution G C intron_variant BRCA-EU 12 112696714 112696714 single base substitution G A intron_variant BRCA-EU 12 112700764 112700764 single base substitution G A downstream_gene_variant BRCA-EU 12 112700764 112700764 single base substitution G A intron_variant BRCA-EU 12 112700764 112700764 single base substitution G A upstream_gene_variant BRCA-EU 12 112700765 112700765 single base substitution G T downstream_gene_variant BRCA-EU 12 112700765 112700765 single base substitution G T intron_variant BRCA-EU 12 112700765 112700765 single base substitution G T upstream_gene_variant BRCA-EU 12 112701251 112701251 single base substitution G C downstream_gene_variant BRCA-EU 12 112701251 112701251 single base substitution G C intron_variant BRCA-EU 12 112701251 112701251 single base substitution G C upstream_gene_variant BRCA-EU 12 112701344 112701344 single base substitution G A downstream_gene_variant BRCA-EU 12 112701344 112701344 single base substitution G A intron_variant BRCA-EU 12 112701344 112701344 single base substitution G A upstream_gene_variant BRCA-EU 12 112701855 112701855 single base substitution G C downstream_gene_variant BRCA-EU 12 112701855 112701855 single base substitution G C intron_variant BRCA-EU 12 112701855 112701855 single base substitution G C upstream_gene_variant BRCA-EU 12 112702287 112702287 single base substitution C T downstream_gene_variant BRCA-EU 12 112702287 112702287 single base substitution C T intron_variant BRCA-EU 12 112702287 112702287 single base substitution C T upstream_gene_variant BRCA-EU 12 112706141 112706141 single base substitution T G intron_variant BRCA-EU 12 112706771 112706771 single base substitution C T intron_variant BRCA-EU 12 112709200 112709200 single base substitution G C intron_variant BRCA-EU 12 112709333 112709333 deletion of <=200bp A - intron_variant BRCA-EU 12 112710066 112710066 single base substitution C G intron_variant BRCA-EU 12 112712258 112712258 single base substitution C T intron_variant BRCA-EU 12 112712258 112712258 single base substitution C T upstream_gene_variant BRCA-EU 12 112712852 112712852 single base substitution A G intron_variant BRCA-EU 12 112712852 112712852 single base substitution A G upstream_gene_variant BRCA-EU 12 112713772 112713772 single base substitution C G intron_variant BRCA-EU 12 112713772 112713772 single base substitution C G upstream_gene_variant BRCA-EU 12 112714368 112714368 single base substitution C T intron_variant BRCA-EU 12 112714368 112714368 single base substitution C T upstream_gene_variant BRCA-EU 12 112715314 112715314 single base substitution G C intron_variant BRCA-EU 12 112715314 112715314 single base substitution G C upstream_gene_variant BRCA-EU 12 112715667 112715667 deletion of <=200bp T - intron_variant BRCA-EU 12 112715667 112715667 deletion of <=200bp T - upstream_gene_variant BRCA-EU 12 112716254 112716254 single base substitution C T intron_variant BRCA-EU 12 112716254 112716254 single base substitution C T upstream_gene_variant BRCA-EU 12 112717749 112717749 single base substitution G A intron_variant BRCA-EU 12 112718516 112718516 single base substitution T C intron_variant BRCA-EU 12 112718525 112718525 single base substitution T C intron_variant BRCA-EU 12 112718536 112718536 single base substitution G C intron_variant BRCA-EU 12 112718659 112718659 single base substitution C G intron_variant BRCA-EU 12 112719077 112719077 single base substitution T A intron_variant BRCA-EU 12 112721296 112721296 single base substitution C G intron_variant BRCA-EU 12 112722573 112722573 single base substitution C G intron_variant BRCA-EU 12 112723496 112723496 single base substitution C A intron_variant BRCA-EU 12 112723832 112723832 deletion of <=200bp A - intron_variant BRCA-EU 12 112724509 112724509 deletion of <=200bp A - intron_variant BRCA-EU 12 112725724 112725724 single base substitution A T intron_variant BRCA-EU 12 112726843 112726843 single base substitution G A intron_variant BRCA-EU 12 112727080 112727080 single base substitution A T intron_variant BRCA-EU 12 112727081 112727081 deletion of <=200bp T - intron_variant BRCA-EU 12 112728595 112728595 single base substitution T A intron_variant BRCA-EU 12 112728882 112728882 single base substitution T C intron_variant BRCA-EU 12 112729695 112729695 deletion of <=200bp T - intron_variant BRCA-EU 12 112730461 112730461 single base substitution C G intron_variant BRCA-EU 12 112732305 112732305 single base substitution T C intron_variant BRCA-EU 12 112734564 112734564 single base substitution G C intron_variant BRCA-EU 12 112737537 112737537 deletion of <=200bp T - intron_variant BRCA-EU 12 112740433 112740433 single base substitution G A intron_variant BRCA-EU 12 112740468 112740468 single base substitution C A intron_variant BRCA-EU 12 112741316 112741316 deletion of <=200bp A - intron_variant BRCA-EU 12 112743089 112743089 single base substitution G A intron_variant BRCA-EU 12 112743815 112743815 single base substitution A G intron_variant BRCA-EU 12 112745694 112745694 single base substitution C A intron_variant BRCA-EU 12 112749330 112749330 single base substitution C T intron_variant BRCA-EU 12 112750292 112750292 single base substitution G C intron_variant BRCA-EU 12 112753267 112753267 single base substitution A G intron_variant BRCA-EU 12 112753953 112753953 single base substitution C A intron_variant BRCA-EU 12 112758661 112758661 deletion of <=200bp T - intron_variant BRCA-EU 12 112763055 112763058 deletion of <=200bp GAAA - intron_variant BRCA-EU 12 112763058 112763058 single base substitution A T intron_variant BRCA-EU 12 112763386 112763386 single base substitution A T intron_variant BRCA-EU 12 112763911 112763911 single base substitution C G intron_variant BRCA-EU 12 112764315 112764315 insertion of <=200bp - A intron_variant BRCA-EU 12 112765448 112765448 insertion of <=200bp - A intron_variant BRCA-EU 12 112767338 112767338 single base substitution A G intron_variant BRCA-EU 12 112767855 112767855 single base substitution C T intron_variant BRCA-EU 12 112768420 112768420 single base substitution C G intron_variant BRCA-EU 12 112769325 112769325 single base substitution C T intron_variant BRCA-EU 12 112769851 112769870 deletion of <=200bp AGAGACGGGTGGGAAGGGGG - intron_variant BRCA-EU 12 112770913 112770913 single base substitution A T intron_variant BRCA-EU 12 112772113 112772113 single base substitution C T intron_variant BRCA-EU 12 112774558 112774558 single base substitution G C intron_variant BRCA-EU 12 112775384 112775384 single base substitution C G intron_variant BRCA-EU 12 112775936 112775936 single base substitution G A intron_variant BRCA-EU 12 112776152 112776152 single base substitution G C intron_variant BRCA-EU 12 112777388 112777388 insertion of <=200bp - GT intron_variant BRCA-EU 12 112777615 112777615 single base substitution G T intron_variant BRCA-EU 12 112780071 112780071 single base substitution T C intron_variant BRCA-EU 12 112781411 112781411 deletion of <=200bp A - intron_variant BRCA-EU 12 112781749 112781749 single base substitution G A intron_variant BRCA-EU 12 112783327 112783327 single base substitution C T intron_variant BRCA-EU 12 112785025 112785025 single base substitution G A intron_variant BRCA-EU 12 112785927 112785927 insertion of <=200bp - T intron_variant BRCA-EU 12 112785927 112785927 single base substitution T A intron_variant BRCA-EU 12 112786200 112786200 single base substitution A G intron_variant BRCA-EU 12 112787259 112787259 single base substitution G C intron_variant BRCA-EU 12 112787769 112787769 deletion of <=200bp T - intron_variant BRCA-EU 12 112788993 112788993 single base substitution G C intron_variant BRCA-EU 12 112789958 112789958 single base substitution G A intron_variant BRCA-EU 12 112790345 112790345 single base substitution G A intron_variant BRCA-EU 12 112792504 112792504 insertion of <=200bp - AC intron_variant BRCA-EU 12 112794494 112794494 single base substitution G A intron_variant BRCA-EU 12 112795069 112795069 deletion of <=200bp A - intron_variant BRCA-EU 12 112795705 112795705 single base substitution C G intron_variant BRCA-EU 12 112796107 112796107 single base substitution A G intron_variant BRCA-EU 12 112796698 112796698 single base substitution G A intron_variant BRCA-EU 12 112796866 112796866 single base substitution G T intron_variant BRCA-EU 12 112797145 112797145 insertion of <=200bp - A intron_variant BRCA-EU 12 112797733 112797733 single base substitution G C intron_variant BRCA-EU 12 112797975 112797975 single base substitution G C intron_variant BRCA-EU 12 112797979 112797979 single base substitution C A intron_variant BRCA-EU 12 112798025 112798025 single base substitution G C intron_variant BRCA-EU 12 112799971 112799971 single base substitution T C intron_variant BRCA-EU 12 112803987 112803987 deletion of <=200bp A - intron_variant BRCA-EU 12 112804284 112804284 single base substitution G A intron_variant BRCA-EU 12 112804361 112804361 single base substitution T C intron_variant BRCA-EU 12 112804396 112804396 deletion of <=200bp A - intron_variant BRCA-EU 12 112805052 112805052 single base substitution G A intron_variant BRCA-EU 12 112807902 112807902 single base substitution G T intron_variant BRCA-EU 12 112809475 112809475 single base substitution G C intron_variant BRCA-EU 12 112811064 112811082 deletion of <=200bp GCCAGGCACGGTGGCTGAC - intron_variant BRCA-EU 12 112812304 112812304 single base substitution A G intron_variant BRCA-EU 12 112813152 112813152 single base substitution T C intron_variant BRCA-EU 12 112814808 112814808 single base substitution C T intron_variant BRCA-EU 12 112814869 112814869 single base substitution T C intron_variant BRCA-EU 12 112814985 112814985 single base substitution G A intron_variant BRCA-EU 12 112815343 112815343 single base substitution C T intron_variant BRCA-EU 12 112816035 112816035 single base substitution C T intron_variant BRCA-EU 12 112816667 112816667 single base substitution G A intron_variant BRCA-EU 12 112817749 112817749 single base substitution G C intron_variant BRCA-EU 12 112817784 112817784 single base substitution C T intron_variant BRCA-EU 12 112818540 112818540 single base substitution G T intron_variant BRCA-EU 12 112820884 112820884 single base substitution G T upstream_gene_variant BRCA-EU 12 112822660 112822660 single base substitution C A upstream_gene_variant BRCA-EU 12 112822738 112822738 single base substitution G A upstream_gene_variant BRCA-EU 12 112823092 112823092 insertion of <=200bp - TAAA upstream_gene_variant BRCA-EU 12 112824295 112824295 single base substitution G T upstream_gene_variant BRCA-EU 12 112824564 112824564 single base substitution G A upstream_gene_variant BRCA-FR 12 112594358 112594358 single base substitution G C downstream_gene_variant BRCA-FR 12 112595611 112595611 single base substitution C T downstream_gene_variant BRCA-FR 12 112598376 112598376 single base substitution C T 3_prime_UTR_variant BRCA-FR 12 112598376 112598376 single base substitution C T downstream_gene_variant BRCA-FR 12 112598376 112598376 single base substitution C T exon_variant BRCA-FR 12 112601577 112601577 single base substitution C T downstream_gene_variant BRCA-FR 12 112601577 112601577 single base substitution C T intron_variant BRCA-FR 12 112601577 112601577 single base substitution C T upstream_gene_variant BRCA-FR 12 112605881 112605881 single base substitution G A downstream_gene_variant BRCA-FR 12 112605881 112605881 single base substitution G A intron_variant BRCA-FR 12 112605881 112605881 single base substitution G A upstream_gene_variant BRCA-FR 12 112608325 112608325 single base substitution C T downstream_gene_variant BRCA-FR 12 112608325 112608325 single base substitution C T intron_variant BRCA-FR 12 112608325 112608325 single base substitution C T upstream_gene_variant BRCA-FR 12 112609940 112609940 single base substitution C G intron_variant BRCA-FR 12 112609940 112609940 single base substitution C G upstream_gene_variant BRCA-FR 12 112615005 112615005 single base substitution G T intron_variant BRCA-FR 12 112615005 112615005 single base substitution G T upstream_gene_variant BRCA-FR 12 112616481 112616481 single base substitution A T intron_variant BRCA-FR 12 112616481 112616481 single base substitution A T upstream_gene_variant BRCA-FR 12 112644294 112644294 single base substitution C G intron_variant BRCA-FR 12 112648975 112648975 single base substitution G T intron_variant BRCA-FR 12 112664629 112664629 single base substitution G A intron_variant BRCA-FR 12 112670559 112670559 single base substitution T C intron_variant BRCA-FR 12 112670559 112670559 single base substitution T C upstream_gene_variant BRCA-FR 12 112701251 112701251 single base substitution G C downstream_gene_variant BRCA-FR 12 112701251 112701251 single base substitution G C intron_variant BRCA-FR 12 112701251 112701251 single base substitution G C upstream_gene_variant BRCA-FR 12 112701344 112701344 single base substitution G A downstream_gene_variant BRCA-FR 12 112701344 112701344 single base substitution G A intron_variant BRCA-FR 12 112701344 112701344 single base substitution G A upstream_gene_variant BRCA-FR 12 112706771 112706771 single base substitution C T intron_variant BRCA-FR 12 112716787 112716787 single base substitution T C intron_variant BRCA-FR 12 112717749 112717749 single base substitution G A intron_variant BRCA-FR 12 112718659 112718659 single base substitution C G intron_variant BRCA-FR 12 112759496 112759496 single base substitution C A intron_variant BRCA-FR 12 112762026 112762026 single base substitution C G intron_variant BRCA-FR 12 112762088 112762088 single base substitution A T intron_variant BRCA-FR 12 112795705 112795705 single base substitution C G intron_variant BRCA-FR 12 112801295 112801295 single base substitution G A intron_variant BRCA-FR 12 112808330 112808330 single base substitution G C intron_variant BRCA-FR 12 112814985 112814985 single base substitution G A intron_variant BRCA-FR 12 112815343 112815343 single base substitution C T intron_variant BRCA-FR 12 112817749 112817749 single base substitution G C intron_variant BRCA-FR 12 112817784 112817784 single base substitution C T intron_variant BRCA-KR 12 112600884 112600884 single base substitution G A downstream_gene_variant BRCA-KR 12 112600884 112600884 single base substitution G A exon_variant BRCA-KR 12 112600884 112600884 single base substitution G A missense_variant P3939L 11816C>T BRCA-KR 12 112600884 112600884 single base substitution G A missense_variant P4189L 12566C>T BRCA-KR 12 112600884 112600884 single base substitution G A missense_variant P4215L 12644C>T BRCA-KR 12 112600884 112600884 single base substitution G A upstream_gene_variant BRCA-KR 12 112607416 112607416 single base substitution C T downstream_gene_variant BRCA-KR 12 112607416 112607416 single base substitution C T exon_variant BRCA-KR 12 112607416 112607416 single base substitution C T synonymous_variant R3611R 10833G>A BRCA-KR 12 112607416 112607416 single base substitution C T synonymous_variant R3861R 11583G>A BRCA-KR 12 112607416 112607416 single base substitution C T synonymous_variant R3887R 11661G>A BRCA-KR 12 112607416 112607416 single base substitution C T upstream_gene_variant BRCA-KR 12 112622404 112622404 single base substitution C G missense_variant E3034Q 9100G>C BRCA-KR 12 112622404 112622404 single base substitution C G missense_variant E3284Q 9850G>C BRCA-KR 12 112622404 112622404 single base substitution C G missense_variant E3310Q 9928G>C BRCA-UK 12 112654109 112654109 single base substitution C T downstream_gene_variant BRCA-UK 12 112654109 112654109 single base substitution C T exon_variant BRCA-UK 12 112654109 112654109 single base substitution C T synonymous_variant V2062V 6186G>A BRCA-UK 12 112654109 112654109 single base substitution C T synonymous_variant V2312V 6936G>A BRCA-UK 12 112654109 112654109 single base substitution C T synonymous_variant V2338V 7014G>A BRCA-UK 12 112670822 112670822 single base substitution G A stop_gained R1573* 4717C>T BRCA-UK 12 112670822 112670822 single base substitution G A stop_gained R1823* 5467C>T BRCA-UK 12 112670822 112670822 single base substitution G A stop_gained R1849* 5545C>T BRCA-UK 12 112670822 112670822 single base substitution G A upstream_gene_variant BRCA-UK 12 112676975 112676975 single base substitution C G missense_variant S1302T 3905G>C BRCA-UK 12 112676975 112676975 single base substitution C G missense_variant S1552T 4655G>C BRCA-UK 12 112676975 112676975 single base substitution C G missense_variant S1578T 4733G>C BRCA-UK 12 112678239 112678239 insertion of <=200bp - TTTTC intron_variant BRCA-UK 12 112680666 112680666 single base substitution G A intron_variant BRCA-UK 12 112684879 112684879 single base substitution C G downstream_gene_variant BRCA-UK 12 112684879 112684879 single base substitution C G missense_variant E1025Q 3073G>C BRCA-UK 12 112684879 112684879 single base substitution C G missense_variant E1275Q 3823G>C BRCA-UK 12 112684879 112684879 single base substitution C G missense_variant E1301Q 3901G>C BRCA-UK 12 112701855 112701855 single base substitution G C downstream_gene_variant BRCA-UK 12 112701855 112701855 single base substitution G C intron_variant BRCA-UK 12 112701855 112701855 single base substitution G C upstream_gene_variant BRCA-UK 12 112726843 112726843 single base substitution G A intron_variant BRCA-UK 12 112747940 112747940 single base substitution G C intron_variant BRCA-UK 12 112814869 112814869 single base substitution T C intron_variant BRCA-US 12 112600232 112600232 single base substitution G A downstream_gene_variant BRCA-US 12 112600232 112600232 single base substitution G A missense_variant R3984C 11950C>T BRCA-US 12 112600232 112600232 single base substitution G A missense_variant R4234C 12700C>T BRCA-US 12 112600232 112600232 single base substitution G A missense_variant R4260C 12778C>T BRCA-US 12 112600232 112600232 single base substitution G A upstream_gene_variant BRCA-US 12 112600859 112600859 insertion of <=200bp - G downstream_gene_variant BRCA-US 12 112600859 112600859 insertion of <=200bp - G exon_variant BRCA-US 12 112600859 112600859 insertion of <=200bp - G frameshift_variant P3947P? BRCA-US 12 112600859 112600859 insertion of <=200bp - G frameshift_variant P4197P? BRCA-US 12 112600859 112600859 insertion of <=200bp - G frameshift_variant P4223P? BRCA-US 12 112600859 112600859 insertion of <=200bp - G upstream_gene_variant BRCA-US 12 112607429 112607429 single base substitution C G downstream_gene_variant BRCA-US 12 112607429 112607429 single base substitution C G exon_variant BRCA-US 12 112607429 112607429 single base substitution C G missense_variant C3607S 10820G>C BRCA-US 12 112607429 112607429 single base substitution C G missense_variant C3857S 11570G>C BRCA-US 12 112607429 112607429 single base substitution C G missense_variant C3883S 11648G>C BRCA-US 12 112607429 112607429 single base substitution C G upstream_gene_variant BRCA-US 12 112621040 112621040 single base substitution G A stop_gained R3182* 9544C>T BRCA-US 12 112621040 112621040 single base substitution G A stop_gained R3432* 10294C>T BRCA-US 12 112621040 112621040 single base substitution G A stop_gained R3458* 10372C>T BRCA-US 12 112622033 112622033 insertion of <=200bp - AA frameshift_variant Q3157Q? BRCA-US 12 112622033 112622033 insertion of <=200bp - AA frameshift_variant Q3407Q? BRCA-US 12 112622033 112622033 insertion of <=200bp - AA frameshift_variant Q3433Q? BRCA-US 12 112622305 112622305 single base substitution T G missense_variant T3067P 9199A>C BRCA-US 12 112622305 112622305 single base substitution T G missense_variant T3317P 9949A>C BRCA-US 12 112622305 112622305 single base substitution T G missense_variant T3343P 10027A>C BRCA-US 12 112622601 112622601 single base substitution A C missense_variant V2968G 8903T>G BRCA-US 12 112622601 112622601 single base substitution A C missense_variant V3218G 9653T>G BRCA-US 12 112622601 112622601 single base substitution A C missense_variant V3244G 9731T>G BRCA-US 12 112622620 112622620 single base substitution C T missense_variant D2962N 8884G>A BRCA-US 12 112622620 112622620 single base substitution C T missense_variant D3212N 9634G>A BRCA-US 12 112622620 112622620 single base substitution C T missense_variant D3238N 9712G>A BRCA-US 12 112623045 112623045 insertion of <=200bp - C frameshift_variant A2820A? BRCA-US 12 112623045 112623045 insertion of <=200bp - C frameshift_variant A3070A? BRCA-US 12 112623045 112623045 insertion of <=200bp - C frameshift_variant A3096A? BRCA-US 12 112645729 112645729 single base substitution C G exon_variant BRCA-US 12 112645729 112645729 single base substitution C G missense_variant E2272Q 6814G>C BRCA-US 12 112645729 112645729 single base substitution C G missense_variant E2522Q 7564G>C BRCA-US 12 112645729 112645729 single base substitution C G missense_variant E2548Q 7642G>C BRCA-US 12 112657218 112657218 deletion of <=200bp G - exon_variant BRCA-US 12 112657218 112657218 deletion of <=200bp G - frameshift_variant P1927 BRCA-US 12 112657218 112657218 deletion of <=200bp G - frameshift_variant P2177 BRCA-US 12 112657218 112657218 deletion of <=200bp G - frameshift_variant P2203 BRCA-US 12 112664523 112664523 single base substitution T C exon_variant BRCA-US 12 112664523 112664523 single base substitution T C synonymous_variant L1876L 5628A>G BRCA-US 12 112664523 112664523 single base substitution T C synonymous_variant L2126L 6378A>G BRCA-US 12 112664523 112664523 single base substitution T C synonymous_variant L2152L 6456A>G BRCA-US 12 112666453 112666453 single base substitution C G missense_variant E1806Q 5416G>C BRCA-US 12 112666453 112666453 single base substitution C G missense_variant E2056Q 6166G>C BRCA-US 12 112666453 112666453 single base substitution C G missense_variant E2082Q 6244G>C BRCA-US 12 112666453 112666453 single base substitution C G splice_region_variant BRCA-US 12 112666453 112666453 single base substitution C G upstream_gene_variant BRCA-US 12 112666532 112666532 single base substitution T G exon_variant BRCA-US 12 112666532 112666532 single base substitution T G synonymous_variant P1779P 5337A>C BRCA-US 12 112666532 112666532 single base substitution T G synonymous_variant P2029P 6087A>C BRCA-US 12 112666532 112666532 single base substitution T G synonymous_variant P2055P 6165A>C BRCA-US 12 112666532 112666532 single base substitution T G upstream_gene_variant BRCA-US 12 112677797 112677797 single base substitution G C missense_variant Q1243E 3727C>G BRCA-US 12 112677797 112677797 single base substitution G C missense_variant Q1493E 4477C>G BRCA-US 12 112677797 112677797 single base substitution G C missense_variant Q1519E 4555C>G BRCA-US 12 112685976 112685976 single base substitution C T downstream_gene_variant BRCA-US 12 112685976 112685976 single base substitution C T splice_acceptor_variant BRCA-US 12 112686210 112686210 single base substitution C G downstream_gene_variant BRCA-US 12 112686210 112686210 single base substitution C G missense_variant E1181Q 3541G>C BRCA-US 12 112686210 112686210 single base substitution C G missense_variant E1207Q 3619G>C BRCA-US 12 112686210 112686210 single base substitution C G missense_variant E931Q 2791G>C BRCA-US 12 112687979 112687979 single base substitution G A exon_variant BRCA-US 12 112687979 112687979 single base substitution G A missense_variant R1135C 3403C>T BRCA-US 12 112687979 112687979 single base substitution G A missense_variant R1161C 3481C>T BRCA-US 12 112687979 112687979 single base substitution G A missense_variant R885C 2653C>T BRCA-US 12 112691858 112691858 single base substitution C G downstream_gene_variant BRCA-US 12 112691858 112691858 single base substitution C G exon_variant BRCA-US 12 112691858 112691858 single base substitution C G missense_variant D1000H 2998G>C BRCA-US 12 112691858 112691858 single base substitution C G missense_variant D714H 2140G>C BRCA-US 12 112691858 112691858 single base substitution C G missense_variant D964H 2890G>C BRCA-US 12 112701998 112701998 single base substitution G T downstream_gene_variant BRCA-US 12 112701998 112701998 single base substitution G T exon_variant BRCA-US 12 112701998 112701998 single base substitution G T missense_variant R448S 1342C>A BRCA-US 12 112701998 112701998 single base substitution G T missense_variant R698S 2092C>A BRCA-US 12 112701998 112701998 single base substitution G T missense_variant R736S 2206C>A BRCA-US 12 112701998 112701998 single base substitution G T upstream_gene_variant BRCA-US 12 112703012 112703012 single base substitution T C downstream_gene_variant BRCA-US 12 112703012 112703012 single base substitution T C exon_variant BRCA-US 12 112703012 112703012 single base substitution T C synonymous_variant K430K 1290A>G BRCA-US 12 112703012 112703012 single base substitution T C synonymous_variant K680K 2040A>G BRCA-US 12 112703012 112703012 single base substitution T C synonymous_variant K718K 2154A>G BRCA-US 12 112703012 112703012 single base substitution T C upstream_gene_variant BRCA-US 12 112707611 112707611 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant BRCA-US 12 112707611 112707611 single base substitution G A exon_variant BRCA-US 12 112707611 112707611 single base substitution G A stop_gained R308* 922C>T BRCA-US 12 112707611 112707611 single base substitution G A stop_gained R558* 1672C>T BRCA-US 12 112707611 112707611 single base substitution G A stop_gained R596* 1786C>T BRCA-US 12 112707652 112707652 single base substitution A G missense_variant V294A 881T>C BRCA-US 12 112707652 112707652 single base substitution A G missense_variant V544A 1631T>C BRCA-US 12 112707652 112707652 single base substitution A G missense_variant V582A 1745T>C BRCA-US 12 112707652 112707652 single base substitution A G splice_region_variant BRCA-US 12 112708208 112708208 single base substitution C T exon_variant BRCA-US 12 112708208 112708208 single base substitution C T intron_variant BRCA-US 12 112708208 112708208 single base substitution C T synonymous_variant A234A 702G>A BRCA-US 12 112708208 112708208 single base substitution C T synonymous_variant A484A 1452G>A BRCA-US 12 112708208 112708208 single base substitution C T synonymous_variant A522A 1566G>A BRCA-US 12 112720942 112720942 single base substitution G C intron_variant BRCA-US 12 112720942 112720942 single base substitution G C missense_variant I106M 318C>G BRCA-US 12 112720942 112720942 single base substitution G C missense_variant I356M 1068C>G BRCA-US 12 112743982 112743982 single base substitution G T intron_variant BRCA-US 12 112743982 112743982 single base substitution G T missense_variant S13R 39C>A BRCA-US 12 112743982 112743982 single base substitution G T missense_variant S263R 789C>A BTCA-JP 12 112600860 112600860 deletion of <=200bp G - downstream_gene_variant BTCA-JP 12 112600860 112600860 deletion of <=200bp G - exon_variant BTCA-JP 12 112600860 112600860 deletion of <=200bp G - frameshift_variant P3947 BTCA-JP 12 112600860 112600860 deletion of <=200bp G - frameshift_variant P4197 BTCA-JP 12 112600860 112600860 deletion of <=200bp G - frameshift_variant P4223 BTCA-JP 12 112600860 112600860 deletion of <=200bp G - upstream_gene_variant BTCA-JP 12 112602100 112602100 single base substitution G A downstream_gene_variant BTCA-JP 12 112602100 112602100 single base substitution G A intron_variant BTCA-JP 12 112602100 112602100 single base substitution G A upstream_gene_variant BTCA-JP 12 112607157 112607157 single base substitution A C downstream_gene_variant BTCA-JP 12 112607157 112607157 single base substitution A C intron_variant BTCA-JP 12 112607157 112607157 single base substitution A C upstream_gene_variant BTCA-JP 12 112608994 112608996 deletion of <=200bp GAA - inframe_deletion F193 BTCA-JP 12 112608994 112608996 deletion of <=200bp GAA - inframe_deletion F3531 BTCA-JP 12 112608994 112608996 deletion of <=200bp GAA - inframe_deletion F3781 BTCA-JP 12 112608994 112608996 deletion of <=200bp GAA - inframe_deletion F3807 BTCA-JP 12 112608994 112608996 deletion of <=200bp GAA - upstream_gene_variant BTCA-JP 12 112622565 112622565 single base substitution G T missense_variant S2980Y 8939C>A BTCA-JP 12 112622565 112622565 single base substitution G T missense_variant S3230Y 9689C>A BTCA-JP 12 112622565 112622565 single base substitution G T missense_variant S3256Y 9767C>A BTCA-JP 12 112623046 112623046 deletion of <=200bp C - frameshift_variant A2820 BTCA-JP 12 112623046 112623046 deletion of <=200bp C - frameshift_variant A3070 BTCA-JP 12 112623046 112623046 deletion of <=200bp C - frameshift_variant A3096 BTCA-JP 12 112628867 112628867 single base substitution C T downstream_gene_variant BTCA-JP 12 112628867 112628867 single base substitution C T intron_variant BTCA-JP 12 112630447 112630447 single base substitution G A downstream_gene_variant BTCA-JP 12 112630447 112630447 single base substitution G A missense_variant A2648V 7943C>T BTCA-JP 12 112630447 112630447 single base substitution G A missense_variant A2898V 8693C>T BTCA-JP 12 112630447 112630447 single base substitution G A missense_variant A2924V 8771C>T BTCA-JP 12 112631023 112631023 single base substitution C A downstream_gene_variant BTCA-JP 12 112631023 112631023 single base substitution C A intron_variant BTCA-JP 12 112631269 112631269 single base substitution C A downstream_gene_variant BTCA-JP 12 112631269 112631269 single base substitution C A splice_region_variant BTCA-JP 12 112638668 112638668 single base substitution C T downstream_gene_variant BTCA-JP 12 112638668 112638668 single base substitution C T intron_variant BTCA-JP 12 112638717 112638717 single base substitution A G downstream_gene_variant BTCA-JP 12 112638717 112638717 single base substitution A G intron_variant BTCA-JP 12 112673401 112673401 single base substitution G T missense_variant P1456T 4366C>A BTCA-JP 12 112673401 112673401 single base substitution G T missense_variant P1706T 5116C>A BTCA-JP 12 112673401 112673401 single base substitution G T missense_variant P1732T 5194C>A BTCA-JP 12 112673401 112673401 single base substitution G T upstream_gene_variant BTCA-JP 12 112677037 112677037 single base substitution G A synonymous_variant S1281S 3843C>T BTCA-JP 12 112677037 112677037 single base substitution G A synonymous_variant S1531S 4593C>T BTCA-JP 12 112677037 112677037 single base substitution G A synonymous_variant S1557S 4671C>T BTCA-JP 12 112681201 112681201 single base substitution C T synonymous_variant T1216T 3648G>A BTCA-JP 12 112681201 112681201 single base substitution C T synonymous_variant T1466T 4398G>A BTCA-JP 12 112681201 112681201 single base substitution C T synonymous_variant T1492T 4476G>A BTCA-JP 12 112681277 112681277 single base substitution C T missense_variant R1191Q 3572G>A BTCA-JP 12 112681277 112681277 single base substitution C T missense_variant R1441Q 4322G>A BTCA-JP 12 112681277 112681277 single base substitution C T missense_variant R1467Q 4400G>A BTCA-JP 12 112681375 112681375 single base substitution C T intron_variant BTCA-JP 12 112681818 112681818 deletion of <=200bp A - splice_region_variant BTCA-JP 12 112685288 112685288 single base substitution C T downstream_gene_variant BTCA-JP 12 112685288 112685288 single base substitution C T missense_variant E1017K 3049G>A BTCA-JP 12 112685288 112685288 single base substitution C T missense_variant E1267K 3799G>A BTCA-JP 12 112685288 112685288 single base substitution C T missense_variant E1293K 3877G>A BTCA-JP 12 112703828 112703828 single base substitution C T intron_variant BTCA-JP 12 112703828 112703828 single base substitution C T upstream_gene_variant BTCA-JP 12 112712675 112712675 single base substitution G A intron_variant BTCA-JP 12 112712675 112712675 single base substitution G A missense_variant R449C 1345C>T BTCA-JP 12 112712675 112712675 single base substitution G A upstream_gene_variant BTCA-JP 12 112716981 112716981 single base substitution T G intron_variant BTCA-JP 12 112720944 112720944 single base substitution T A intron_variant BTCA-JP 12 112720944 112720944 single base substitution T A missense_variant I106F 316A>T BTCA-JP 12 112720944 112720944 single base substitution T A missense_variant I356F 1066A>T CESC-US 12 112602065 112602065 single base substitution G A downstream_gene_variant CESC-US 12 112602065 112602065 single base substitution G A exon_variant CESC-US 12 112602065 112602065 single base substitution G A synonymous_variant T3761T 11283C>T CESC-US 12 112602065 112602065 single base substitution G A synonymous_variant T4011T 12033C>T CESC-US 12 112602065 112602065 single base substitution G A synonymous_variant T4037T 12111C>T CESC-US 12 112602065 112602065 single base substitution G A upstream_gene_variant CESC-US 12 112605159 112605159 single base substitution C A downstream_gene_variant CESC-US 12 112605159 112605159 single base substitution C A exon_variant CESC-US 12 112605159 112605159 single base substitution C A missense_variant D3744Y 11230G>T CESC-US 12 112605159 112605159 single base substitution C A missense_variant D3994Y 11980G>T CESC-US 12 112605159 112605159 single base substitution C A missense_variant D4020Y 12058G>T CESC-US 12 112607485 112607485 single base substitution C G downstream_gene_variant CESC-US 12 112607485 112607485 single base substitution C G exon_variant CESC-US 12 112607485 112607485 single base substitution C G intron_variant CESC-US 12 112607485 112607485 single base substitution C G upstream_gene_variant CESC-US 12 112608139 112608139 single base substitution C T downstream_gene_variant CESC-US 12 112608139 112608139 single base substitution C T missense_variant G3595E 10784G>A CESC-US 12 112608139 112608139 single base substitution C T missense_variant G3845E 11534G>A CESC-US 12 112608139 112608139 single base substitution C T missense_variant G3871E 11612G>A CESC-US 12 112608139 112608139 single base substitution C T upstream_gene_variant CESC-US 12 112617099 112617099 single base substitution C T missense_variant R3275K 9824G>A CESC-US 12 112617099 112617099 single base substitution C T missense_variant R3525K 10574G>A CESC-US 12 112617099 112617099 single base substitution C T missense_variant R3551K 10652G>A CESC-US 12 112617099 112617099 single base substitution C T upstream_gene_variant CESC-US 12 112622247 112622247 single base substitution G C missense_variant S3086C 9257C>G CESC-US 12 112622247 112622247 single base substitution G C missense_variant S3336C 10007C>G CESC-US 12 112622247 112622247 single base substitution G C missense_variant S3362C 10085C>G CESC-US 12 112670844 112670844 single base substitution C T missense_variant M1565I 4695G>A CESC-US 12 112670844 112670844 single base substitution C T missense_variant M1815I 5445G>A CESC-US 12 112670844 112670844 single base substitution C T missense_variant M1841I 5523G>A CESC-US 12 112670844 112670844 single base substitution C T upstream_gene_variant CESC-US 12 112670864 112670864 single base substitution G T missense_variant L1559I 4675C>A CESC-US 12 112670864 112670864 single base substitution G T missense_variant L1809I 5425C>A CESC-US 12 112670864 112670864 single base substitution G T missense_variant L1835I 5503C>A CESC-US 12 112670864 112670864 single base substitution G T upstream_gene_variant CESC-US 12 112681469 112681469 single base substitution C T synonymous_variant L1160L 3480G>A CESC-US 12 112681469 112681469 single base substitution C T synonymous_variant L1410L 4230G>A CESC-US 12 112681469 112681469 single base substitution C T synonymous_variant L1436L 4308G>A CESC-US 12 112686184 112686184 single base substitution T C downstream_gene_variant CESC-US 12 112686184 112686184 single base substitution T C synonymous_variant L1189L 3567A>G CESC-US 12 112686184 112686184 single base substitution T C synonymous_variant L1215L 3645A>G CESC-US 12 112686184 112686184 single base substitution T C synonymous_variant L939L 2817A>G CESC-US 12 112712683 112712683 single base substitution G A intron_variant CESC-US 12 112712683 112712683 single base substitution G A missense_variant S446L 1337C>T CESC-US 12 112712683 112712683 single base substitution G A upstream_gene_variant CESC-US 12 112720970 112720970 single base substitution G T intron_variant CESC-US 12 112720970 112720970 single base substitution G T missense_variant T347K 1040C>A CESC-US 12 112720970 112720970 single base substitution G T missense_variant T97K 290C>A CESC-US 12 112752316 112752316 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant CESC-US 12 112752316 112752316 single base substitution G C intron_variant CESC-US 12 112752316 112752316 single base substitution G C missense_variant L100V 298C>G CLLE-ES 12 112622944 112622944 single base substitution T G missense_variant T2854P 8560A>C CLLE-ES 12 112622944 112622944 single base substitution T G missense_variant T3104P 9310A>C CLLE-ES 12 112622944 112622944 single base substitution T G missense_variant T3130P 9388A>C CLLE-ES 12 112679715 112679715 single base substitution T C intron_variant CLLE-ES 12 112682260 112682260 single base substitution T C intron_variant CLLE-ES 12 112698901 112698901 single base substitution A G downstream_gene_variant CLLE-ES 12 112698901 112698901 single base substitution A G intron_variant CLLE-ES 12 112704994 112704994 single base substitution C T intron_variant CLLE-ES 12 112709127 112709127 single base substitution C A intron_variant CLLE-ES 12 112721877 112721877 single base substitution G A intron_variant CLLE-ES 12 112737362 112737362 single base substitution G C intron_variant CLLE-ES 12 112742613 112742613 single base substitution A G intron_variant CLLE-ES 12 112787336 112787336 insertion of <=200bp - T intron_variant CLLE-ES 12 112805853 112805853 single base substitution T A intron_variant CLLE-ES 12 112819623 112819623 single base substitution C A intron_variant COAD-US 12 112600860 112600860 deletion of <=200bp G - downstream_gene_variant COAD-US 12 112600860 112600860 deletion of <=200bp G - exon_variant COAD-US 12 112600860 112600860 deletion of <=200bp G - frameshift_variant P3947 COAD-US 12 112600860 112600860 deletion of <=200bp G - frameshift_variant P4197 COAD-US 12 112600860 112600860 deletion of <=200bp G - frameshift_variant P4223 COAD-US 12 112600860 112600860 deletion of <=200bp G - upstream_gene_variant COAD-US 12 112600860 112600861 deletion of <=200bp GG - downstream_gene_variant COAD-US 12 112600860 112600861 deletion of <=200bp GG - exon_variant COAD-US 12 112600860 112600861 deletion of <=200bp GG - frameshift_variant P3947 COAD-US 12 112600860 112600861 deletion of <=200bp GG - frameshift_variant P4197 COAD-US 12 112600860 112600861 deletion of <=200bp GG - frameshift_variant P4223 COAD-US 12 112600860 112600861 deletion of <=200bp GG - upstream_gene_variant COAD-US 12 112600903 112600903 single base substitution C T downstream_gene_variant COAD-US 12 112600903 112600903 single base substitution C T exon_variant COAD-US 12 112600903 112600903 single base substitution C T missense_variant D3933N 11797G>A COAD-US 12 112600903 112600903 single base substitution C T missense_variant D4183N 12547G>A COAD-US 12 112600903 112600903 single base substitution C T missense_variant D4209N 12625G>A COAD-US 12 112600903 112600903 single base substitution C T upstream_gene_variant COAD-US 12 112607395 112607395 single base substitution C T downstream_gene_variant COAD-US 12 112607395 112607395 single base substitution C T exon_variant COAD-US 12 112607395 112607395 single base substitution C T synonymous_variant S3618S 10854G>A COAD-US 12 112607395 112607395 single base substitution C T synonymous_variant S3868S 11604G>A COAD-US 12 112607395 112607395 single base substitution C T synonymous_variant S3894S 11682G>A COAD-US 12 112607395 112607395 single base substitution C T upstream_gene_variant COAD-US 12 112608194 112608194 single base substitution T A downstream_gene_variant COAD-US 12 112608194 112608194 single base substitution T A missense_variant R3577W 10729A>T COAD-US 12 112608194 112608194 single base substitution T A missense_variant R3827W 11479A>T COAD-US 12 112608194 112608194 single base substitution T A missense_variant R3853W 11557A>T COAD-US 12 112608194 112608194 single base substitution T A upstream_gene_variant COAD-US 12 112610661 112610661 single base substitution C T missense_variant A3445T 10333G>A COAD-US 12 112610661 112610661 single base substitution C T missense_variant A3695T 11083G>A COAD-US 12 112610661 112610661 single base substitution C T missense_variant A3721T 11161G>A COAD-US 12 112610661 112610661 single base substitution C T missense_variant A79T 235G>A COAD-US 12 112610661 112610661 single base substitution C T upstream_gene_variant COAD-US 12 112622027 112622027 single base substitution G A synonymous_variant L3159L 9477C>T COAD-US 12 112622027 112622027 single base substitution G A synonymous_variant L3409L 10227C>T COAD-US 12 112622027 112622027 single base substitution G A synonymous_variant L3435L 10305C>T COAD-US 12 112622798 112622798 single base substitution C T synonymous_variant S2902S 8706G>A COAD-US 12 112622798 112622798 single base substitution C T synonymous_variant S3152S 9456G>A COAD-US 12 112622798 112622798 single base substitution C T synonymous_variant S3178S 9534G>A COAD-US 12 112622918 112622918 single base substitution G A synonymous_variant T2862T 8586C>T COAD-US 12 112622918 112622918 single base substitution G A synonymous_variant T3112T 9336C>T COAD-US 12 112622918 112622918 single base substitution G A synonymous_variant T3138T 9414C>T COAD-US 12 112623045 112623045 single base substitution G A missense_variant A2820V 8459C>T COAD-US 12 112623045 112623045 single base substitution G A missense_variant A3070V 9209C>T COAD-US 12 112623045 112623045 single base substitution G A missense_variant A3096V 9287C>T COAD-US 12 112623068 112623068 single base substitution G A synonymous_variant G2812G 8436C>T COAD-US 12 112623068 112623068 single base substitution G A synonymous_variant G3062G 9186C>T COAD-US 12 112623068 112623068 single base substitution G A synonymous_variant G3088G 9264C>T COAD-US 12 112630465 112630465 single base substitution G A downstream_gene_variant COAD-US 12 112630465 112630465 single base substitution G A missense_variant P2642L 7925C>T COAD-US 12 112630465 112630465 single base substitution G A missense_variant P2892L 8675C>T COAD-US 12 112630465 112630465 single base substitution G A missense_variant P2918L 8753C>T COAD-US 12 112630470 112630470 single base substitution A G downstream_gene_variant COAD-US 12 112630470 112630470 single base substitution A G synonymous_variant C2640C 7920T>C COAD-US 12 112630470 112630470 single base substitution A G synonymous_variant C2890C 8670T>C COAD-US 12 112630470 112630470 single base substitution A G synonymous_variant C2916C 8748T>C COAD-US 12 112630518 112630518 single base substitution G T downstream_gene_variant COAD-US 12 112630518 112630518 single base substitution G T synonymous_variant G2624G 7872C>A COAD-US 12 112630518 112630518 single base substitution G T synonymous_variant G2874G 8622C>A COAD-US 12 112630518 112630518 single base substitution G T synonymous_variant G2900G 8700C>A COAD-US 12 112638500 112638500 single base substitution G A downstream_gene_variant COAD-US 12 112638500 112638500 single base substitution G A exon_variant COAD-US 12 112638500 112638500 single base substitution G A stop_gained R2415* 7243C>T COAD-US 12 112638500 112638500 single base substitution G A stop_gained R2665* 7993C>T COAD-US 12 112638500 112638500 single base substitution G A stop_gained R2691* 8071C>T COAD-US 12 112642326 112642326 single base substitution C T exon_variant COAD-US 12 112642326 112642326 single base substitution C T missense_variant E2323K 6967G>A COAD-US 12 112642326 112642326 single base substitution C T missense_variant E2573K 7717G>A COAD-US 12 112642326 112642326 single base substitution C T missense_variant E2599K 7795G>A COAD-US 12 112642326 112642326 single base substitution C T upstream_gene_variant COAD-US 12 112642430 112642430 deletion of <=200bp A - splice_region_variant COAD-US 12 112642430 112642430 deletion of <=200bp A - upstream_gene_variant COAD-US 12 112654162 112654162 single base substitution C T downstream_gene_variant COAD-US 12 112654162 112654162 single base substitution C T exon_variant COAD-US 12 112654162 112654162 single base substitution C T missense_variant V2045M 6133G>A COAD-US 12 112654162 112654162 single base substitution C T missense_variant V2295M 6883G>A COAD-US 12 112654162 112654162 single base substitution C T missense_variant V2321M 6961G>A COAD-US 12 112667503 112667503 single base substitution T C missense_variant Q1751R 5252A>G COAD-US 12 112667503 112667503 single base substitution T C missense_variant Q2001R 6002A>G COAD-US 12 112667503 112667503 single base substitution T C missense_variant Q2027R 6080A>G COAD-US 12 112667503 112667503 single base substitution T C splice_region_variant COAD-US 12 112667503 112667503 single base substitution T C upstream_gene_variant COAD-US 12 112669336 112669336 single base substitution T C missense_variant R1639G 4915A>G COAD-US 12 112669336 112669336 single base substitution T C missense_variant R1889G 5665A>G COAD-US 12 112669336 112669336 single base substitution T C missense_variant R1915G 5743A>G COAD-US 12 112669336 112669336 single base substitution T C upstream_gene_variant COAD-US 12 112686176 112686176 single base substitution T G downstream_gene_variant COAD-US 12 112686176 112686176 single base substitution T G missense_variant K1192T 3575A>C COAD-US 12 112686176 112686176 single base substitution T G missense_variant K1218T 3653A>C COAD-US 12 112686176 112686176 single base substitution T G missense_variant K942T 2825A>C COAD-US 12 112688090 112688090 single base substitution C A exon_variant COAD-US 12 112688090 112688090 single base substitution C A stop_gained E1098* 3292G>T COAD-US 12 112688090 112688090 single base substitution C A stop_gained E1124* 3370G>T COAD-US 12 112688090 112688090 single base substitution C A stop_gained E848* 2542G>T COAD-US 12 112690349 112690349 deletion of <=200bp G - frameshift_variant P722 COAD-US 12 112690349 112690349 deletion of <=200bp G - frameshift_variant P972 COAD-US 12 112690349 112690349 deletion of <=200bp G - intron_variant COAD-US 12 112694180 112694180 single base substitution G A downstream_gene_variant COAD-US 12 112694180 112694180 single base substitution G A exon_variant COAD-US 12 112694180 112694180 single base substitution G A missense_variant R659C 1975C>T COAD-US 12 112694180 112694180 single base substitution G A missense_variant R909C 2725C>T COAD-US 12 112694180 112694180 single base substitution G A missense_variant R945C 2833C>T COCA-CN 12 112608293 112608293 single base substitution T G downstream_gene_variant COCA-CN 12 112608293 112608293 single base substitution T G intron_variant COCA-CN 12 112608293 112608293 single base substitution T G upstream_gene_variant COCA-CN 12 112610444 112610444 single base substitution C G intron_variant COCA-CN 12 112610444 112610444 single base substitution C G upstream_gene_variant COCA-CN 12 112610544 112610544 single base substitution G A missense_variant R118W 352C>T COCA-CN 12 112610544 112610544 single base substitution G A missense_variant R3484W 10450C>T COCA-CN 12 112610544 112610544 single base substitution G A missense_variant R3734W 11200C>T COCA-CN 12 112610544 112610544 single base substitution G A missense_variant R3760W 11278C>T COCA-CN 12 112610544 112610544 single base substitution G A upstream_gene_variant COCA-CN 12 112610847 112610847 single base substitution C G intron_variant COCA-CN 12 112610847 112610847 single base substitution C G upstream_gene_variant COCA-CN 12 112613540 112613540 single base substitution C A missense_variant R3443M 10328G>T COCA-CN 12 112613540 112613540 single base substitution C A missense_variant R3693M 11078G>T COCA-CN 12 112613540 112613540 single base substitution C A missense_variant R3719M 11156G>T COCA-CN 12 112613540 112613540 single base substitution C A missense_variant R77M 230G>T COCA-CN 12 112617012 112617012 single base substitution G A missense_variant P3304L 9911C>T COCA-CN 12 112617012 112617012 single base substitution G A missense_variant P3554L 10661C>T COCA-CN 12 112617012 112617012 single base substitution G A missense_variant P3580L 10739C>T COCA-CN 12 112617012 112617012 single base substitution G A upstream_gene_variant COCA-CN 12 112621843 112621843 single base substitution C T intron_variant COCA-CN 12 112622076 112622076 single base substitution G A missense_variant S3143L 9428C>T COCA-CN 12 112622076 112622076 single base substitution G A missense_variant S3393L 10178C>T COCA-CN 12 112622076 112622076 single base substitution G A missense_variant S3419L 10256C>T COCA-CN 12 112622338 112622338 single base substitution T G missense_variant T3056P 9166A>C COCA-CN 12 112622338 112622338 single base substitution T G missense_variant T3306P 9916A>C COCA-CN 12 112622338 112622338 single base substitution T G missense_variant T3332P 9994A>C COCA-CN 12 112622770 112622770 single base substitution C T missense_variant V2912M 8734G>A COCA-CN 12 112622770 112622770 single base substitution C T missense_variant V3162M 9484G>A COCA-CN 12 112622770 112622770 single base substitution C T missense_variant V3188M 9562G>A COCA-CN 12 112630533 112630533 single base substitution G A downstream_gene_variant COCA-CN 12 112630533 112630533 single base substitution G A synonymous_variant L2619L 7857C>T COCA-CN 12 112630533 112630533 single base substitution G A synonymous_variant L2869L 8607C>T COCA-CN 12 112630533 112630533 single base substitution G A synonymous_variant L2895L 8685C>T COCA-CN 12 112630744 112630744 single base substitution G A downstream_gene_variant COCA-CN 12 112630744 112630744 single base substitution G A intron_variant COCA-CN 12 112631115 112631115 single base substitution C T downstream_gene_variant COCA-CN 12 112631115 112631115 single base substitution C T intron_variant COCA-CN 12 112631393 112631393 single base substitution G T downstream_gene_variant COCA-CN 12 112631393 112631393 single base substitution G T synonymous_variant L2523L 7569C>A COCA-CN 12 112631393 112631393 single base substitution G T synonymous_variant L2773L 8319C>A COCA-CN 12 112631393 112631393 single base substitution G T synonymous_variant L2799L 8397C>A COCA-CN 12 112638694 112638694 single base substitution T C downstream_gene_variant COCA-CN 12 112638694 112638694 single base substitution T C intron_variant COCA-CN 12 112642505 112642505 single base substitution T C intron_variant COCA-CN 12 112642505 112642505 single base substitution T C upstream_gene_variant COCA-CN 12 112645740 112645740 single base substitution C T exon_variant COCA-CN 12 112645740 112645740 single base substitution C T missense_variant R2268H 6803G>A COCA-CN 12 112645740 112645740 single base substitution C T missense_variant R2518H 7553G>A COCA-CN 12 112645740 112645740 single base substitution C T missense_variant R2544H 7631G>A COCA-CN 12 112650450 112650450 single base substitution G A downstream_gene_variant COCA-CN 12 112650450 112650450 single base substitution G A exon_variant COCA-CN 12 112650450 112650450 single base substitution G A synonymous_variant D2068D 6204C>T COCA-CN 12 112650450 112650450 single base substitution G A synonymous_variant D2318D 6954C>T COCA-CN 12 112650450 112650450 single base substitution G A synonymous_variant D2344D 7032C>T COCA-CN 12 112654571 112654571 single base substitution A C downstream_gene_variant COCA-CN 12 112654571 112654571 single base substitution A C splice_region_variant COCA-CN 12 112657404 112657404 single base substitution G T intron_variant COCA-CN 12 112657404 112657404 single base substitution G T upstream_gene_variant COCA-CN 12 112664637 112664637 single base substitution T C intron_variant COCA-CN 12 112668485 112668485 single base substitution G A intron_variant COCA-CN 12 112668485 112668485 single base substitution G A splice_region_variant COCA-CN 12 112668485 112668485 single base substitution G A upstream_gene_variant COCA-CN 12 112673431 112673431 single base substitution C T missense_variant V1446M 4336G>A COCA-CN 12 112673431 112673431 single base substitution C T missense_variant V1696M 5086G>A COCA-CN 12 112673431 112673431 single base substitution C T missense_variant V1722M 5164G>A COCA-CN 12 112673431 112673431 single base substitution C T upstream_gene_variant COCA-CN 12 112674867 112674867 single base substitution G A missense_variant R1354W 4060C>T COCA-CN 12 112674867 112674867 single base substitution G A missense_variant R1604W 4810C>T COCA-CN 12 112674867 112674867 single base substitution G A missense_variant R1630W 4888C>T COCA-CN 12 112677726 112677726 single base substitution G A synonymous_variant C1266C 3798C>T COCA-CN 12 112677726 112677726 single base substitution G A synonymous_variant C1516C 4548C>T COCA-CN 12 112677726 112677726 single base substitution G A synonymous_variant C1542C 4626C>T COCA-CN 12 112685995 112685995 single base substitution A G downstream_gene_variant COCA-CN 12 112685995 112685995 single base substitution A G intron_variant COCA-CN 12 112688637 112688637 single base substitution T C intron_variant COCA-CN 12 112688765 112688765 single base substitution T A intron_variant COCA-CN 12 112688821 112688821 single base substitution C A exon_variant COCA-CN 12 112688821 112688821 single base substitution C A stop_gained E1052* 3154G>T COCA-CN 12 112688821 112688821 single base substitution C A stop_gained E1078* 3232G>T COCA-CN 12 112688821 112688821 single base substitution C A stop_gained E802* 2404G>T COCA-CN 12 112697155 112697155 single base substitution C A intron_variant COCA-CN 12 112703938 112703938 single base substitution T A intron_variant COCA-CN 12 112703938 112703938 single base substitution T A upstream_gene_variant COCA-CN 12 112708353 112708353 single base substitution G A intron_variant COCA-CN 12 112712646 112712646 single base substitution C A intron_variant COCA-CN 12 112712646 112712646 single base substitution C A splice_region_variant COCA-CN 12 112712646 112712646 single base substitution C A upstream_gene_variant COCA-CN 12 112719078 112719078 single base substitution A T intron_variant COCA-CN 12 112731126 112731126 single base substitution A G intron_variant COCA-CN 12 112734553 112734553 single base substitution A G intron_variant COCA-CN 12 112734916 112734916 single base substitution T A intron_variant COCA-CN 12 112747373 112747373 single base substitution A G 5_prime_UTR_variant COCA-CN 12 112747373 112747373 single base substitution A G intron_variant COCA-CN 12 112747373 112747373 single base substitution A G synonymous_variant G195G 585T>C COCA-CN 12 112751045 112751045 single base substitution T G intron_variant COCA-CN 12 112802224 112802224 single base substitution A T intron_variant EOPC-DE 12 112734371 112734371 single base substitution A G intron_variant EOPC-DE 12 112749129 112749129 single base substitution C T intron_variant EOPC-DE 12 112753836 112753836 single base substitution C T intron_variant EOPC-DE 12 112783102 112783102 single base substitution T A intron_variant EOPC-DE 12 112822136 112822136 single base substitution G T upstream_gene_variant ESAD-UK 12 112595291 112595291 single base substitution A C downstream_gene_variant ESAD-UK 12 112595495 112595495 single base substitution C T downstream_gene_variant ESAD-UK 12 112597101 112597101 single base substitution G C downstream_gene_variant ESAD-UK 12 112597210 112597210 single base substitution G A downstream_gene_variant ESAD-UK 12 112597964 112597964 single base substitution G C downstream_gene_variant ESAD-UK 12 112598697 112598697 single base substitution A T 3_prime_UTR_variant ESAD-UK 12 112598697 112598697 single base substitution A T downstream_gene_variant ESAD-UK 12 112598697 112598697 single base substitution A T exon_variant ESAD-UK 12 112600402 112600402 single base substitution T C downstream_gene_variant ESAD-UK 12 112600402 112600402 single base substitution T C intron_variant ESAD-UK 12 112600402 112600402 single base substitution T C upstream_gene_variant ESAD-UK 12 112600515 112600515 single base substitution T C downstream_gene_variant ESAD-UK 12 112600515 112600515 single base substitution T C intron_variant ESAD-UK 12 112600515 112600515 single base substitution T C upstream_gene_variant ESAD-UK 12 112601836 112601836 single base substitution G A downstream_gene_variant ESAD-UK 12 112601836 112601836 single base substitution G A intron_variant ESAD-UK 12 112601836 112601836 single base substitution G A upstream_gene_variant ESAD-UK 12 112601996 112601996 single base substitution G A downstream_gene_variant ESAD-UK 12 112601996 112601996 single base substitution G A exon_variant ESAD-UK 12 112601996 112601996 single base substitution G A synonymous_variant N3784N 11352C>T ESAD-UK 12 112601996 112601996 single base substitution G A synonymous_variant N4034N 12102C>T ESAD-UK 12 112601996 112601996 single base substitution G A synonymous_variant N4060N 12180C>T ESAD-UK 12 112601996 112601996 single base substitution G A upstream_gene_variant ESAD-UK 12 112602215 112602215 single base substitution T G downstream_gene_variant ESAD-UK 12 112602215 112602215 single base substitution T G intron_variant ESAD-UK 12 112602215 112602215 single base substitution T G upstream_gene_variant ESAD-UK 12 112602447 112602447 single base substitution G A downstream_gene_variant ESAD-UK 12 112602447 112602447 single base substitution G A intron_variant ESAD-UK 12 112602447 112602447 single base substitution G A upstream_gene_variant ESAD-UK 12 112604365 112604365 single base substitution G A downstream_gene_variant ESAD-UK 12 112604365 112604365 single base substitution G A exon_variant ESAD-UK 12 112604365 112604365 single base substitution G A intron_variant ESAD-UK 12 112604365 112604365 single base substitution G A upstream_gene_variant ESAD-UK 12 112609791 112609791 single base substitution T A intron_variant ESAD-UK 12 112609791 112609791 single base substitution T A upstream_gene_variant ESAD-UK 12 112611746 112611746 single base substitution A T intron_variant ESAD-UK 12 112611746 112611746 single base substitution A T upstream_gene_variant ESAD-UK 12 112612408 112612408 single base substitution G C intron_variant ESAD-UK 12 112612408 112612408 single base substitution G C upstream_gene_variant ESAD-UK 12 112612767 112612767 single base substitution G A intron_variant ESAD-UK 12 112612767 112612767 single base substitution G A upstream_gene_variant ESAD-UK 12 112613081 112613081 single base substitution C T intron_variant ESAD-UK 12 112616520 112616520 single base substitution C A intron_variant ESAD-UK 12 112616520 112616520 single base substitution C A upstream_gene_variant ESAD-UK 12 112616947 112616947 single base substitution C T intron_variant ESAD-UK 12 112616947 112616947 single base substitution C T upstream_gene_variant ESAD-UK 12 112618358 112618358 single base substitution C A intron_variant ESAD-UK 12 112618358 112618358 single base substitution C A upstream_gene_variant ESAD-UK 12 112618359 112618359 deletion of <=200bp A - intron_variant ESAD-UK 12 112618359 112618359 deletion of <=200bp A - upstream_gene_variant ESAD-UK 12 112618655 112618655 single base substitution T C intron_variant ESAD-UK 12 112618655 112618655 single base substitution T C upstream_gene_variant ESAD-UK 12 112618686 112618686 single base substitution C T intron_variant ESAD-UK 12 112618686 112618686 single base substitution C T upstream_gene_variant ESAD-UK 12 112618731 112618731 single base substitution A T intron_variant ESAD-UK 12 112618731 112618731 single base substitution A T upstream_gene_variant ESAD-UK 12 112618896 112618896 single base substitution C A intron_variant ESAD-UK 12 112618896 112618896 single base substitution C A upstream_gene_variant ESAD-UK 12 112618897 112618897 single base substitution G T intron_variant ESAD-UK 12 112618897 112618897 single base substitution G T upstream_gene_variant ESAD-UK 12 112624939 112624939 single base substitution A G intron_variant ESAD-UK 12 112630671 112630671 single base substitution C T downstream_gene_variant ESAD-UK 12 112630671 112630671 single base substitution C T intron_variant ESAD-UK 12 112631686 112631686 single base substitution T G downstream_gene_variant ESAD-UK 12 112631686 112631686 single base substitution T G intron_variant ESAD-UK 12 112632602 112632602 single base substitution T G downstream_gene_variant ESAD-UK 12 112632602 112632602 single base substitution T G intron_variant ESAD-UK 12 112635440 112635440 single base substitution G C intron_variant ESAD-UK 12 112635885 112635885 single base substitution C T downstream_gene_variant ESAD-UK 12 112635885 112635885 single base substitution C T intron_variant ESAD-UK 12 112636957 112636957 single base substitution G A downstream_gene_variant ESAD-UK 12 112636957 112636957 single base substitution G A intron_variant ESAD-UK 12 112638499 112638499 single base substitution C T downstream_gene_variant ESAD-UK 12 112638499 112638499 single base substitution C T exon_variant ESAD-UK 12 112638499 112638499 single base substitution C T missense_variant R2415Q 7244G>A ESAD-UK 12 112638499 112638499 single base substitution C T missense_variant R2665Q 7994G>A ESAD-UK 12 112638499 112638499 single base substitution C T missense_variant R2691Q 8072G>A ESAD-UK 12 112638654 112638673 deletion of <=200bp TGTGTGCGTGCGTGCGTGTG - downstream_gene_variant ESAD-UK 12 112638654 112638673 deletion of <=200bp TGTGTGCGTGCGTGCGTGTG - intron_variant ESAD-UK 12 112638999 112638999 single base substitution G A downstream_gene_variant ESAD-UK 12 112638999 112638999 single base substitution G A exon_variant ESAD-UK 12 112638999 112638999 single base substitution G A intron_variant ESAD-UK 12 112644310 112644310 deletion of <=200bp A - intron_variant ESAD-UK 12 112644583 112644583 single base substitution G A intron_variant ESAD-UK 12 112645740 112645740 single base substitution C A exon_variant ESAD-UK 12 112645740 112645740 single base substitution C A missense_variant R2268L 6803G>T ESAD-UK 12 112645740 112645740 single base substitution C A missense_variant R2518L 7553G>T ESAD-UK 12 112645740 112645740 single base substitution C A missense_variant R2544L 7631G>T ESAD-UK 12 112651826 112651826 insertion of <=200bp - A downstream_gene_variant ESAD-UK 12 112651826 112651826 insertion of <=200bp - A intron_variant ESAD-UK 12 112652340 112652340 single base substitution G C downstream_gene_variant ESAD-UK 12 112652340 112652340 single base substitution G C intron_variant ESAD-UK 12 112655779 112655779 deletion of <=200bp A - intron_variant ESAD-UK 12 112655803 112655804 deletion of <=200bp TT - intron_variant ESAD-UK 12 112656660 112656660 single base substitution T G intron_variant ESAD-UK 12 112656791 112656791 single base substitution G A intron_variant ESAD-UK 12 112657142 112657142 single base substitution G A intron_variant ESAD-UK 12 112657718 112657720 deletion of <=200bp AAC - intron_variant ESAD-UK 12 112657718 112657720 deletion of <=200bp AAC - upstream_gene_variant ESAD-UK 12 112658945 112658945 single base substitution C G intron_variant ESAD-UK 12 112658945 112658945 single base substitution C G upstream_gene_variant ESAD-UK 12 112660586 112660586 single base substitution C A downstream_gene_variant ESAD-UK 12 112660586 112660586 single base substitution C A intron_variant ESAD-UK 12 112660586 112660586 single base substitution C A upstream_gene_variant ESAD-UK 12 112664928 112664928 single base substitution C T intron_variant ESAD-UK 12 112670024 112670024 single base substitution T G intron_variant ESAD-UK 12 112670024 112670024 single base substitution T G upstream_gene_variant ESAD-UK 12 112672492 112672492 single base substitution G A intron_variant ESAD-UK 12 112672492 112672492 single base substitution G A upstream_gene_variant ESAD-UK 12 112674440 112674440 single base substitution G A intron_variant ESAD-UK 12 112674739 112674739 single base substitution C T intron_variant ESAD-UK 12 112680495 112680495 single base substitution A G intron_variant ESAD-UK 12 112681072 112681072 single base substitution G A intron_variant ESAD-UK 12 112681819 112681819 single base substitution A C splice_region_variant ESAD-UK 12 112687978 112687978 single base substitution C T exon_variant ESAD-UK 12 112687978 112687978 single base substitution C T missense_variant R1135H 3404G>A ESAD-UK 12 112687978 112687978 single base substitution C T missense_variant R1161H 3482G>A ESAD-UK 12 112687978 112687978 single base substitution C T missense_variant R885H 2654G>A ESAD-UK 12 112688573 112688573 single base substitution G T intron_variant ESAD-UK 12 112690937 112690937 single base substitution T C intron_variant ESAD-UK 12 112691742 112691742 single base substitution G T downstream_gene_variant ESAD-UK 12 112691742 112691742 single base substitution G T intron_variant ESAD-UK 12 112696471 112696471 single base substitution T G intron_variant ESAD-UK 12 112698199 112698199 single base substitution T G intron_variant ESAD-UK 12 112699082 112699082 single base substitution G A downstream_gene_variant ESAD-UK 12 112699082 112699082 single base substitution G A intron_variant ESAD-UK 12 112702124 112702124 deletion of <=200bp A - downstream_gene_variant ESAD-UK 12 112702124 112702124 deletion of <=200bp A - intron_variant ESAD-UK 12 112702124 112702124 deletion of <=200bp A - upstream_gene_variant ESAD-UK 12 112704003 112704003 single base substitution T C intron_variant ESAD-UK 12 112704003 112704003 single base substitution T C upstream_gene_variant ESAD-UK 12 112704057 112704057 single base substitution C G intron_variant ESAD-UK 12 112704057 112704057 single base substitution C G upstream_gene_variant ESAD-UK 12 112704941 112704941 single base substitution G A intron_variant ESAD-UK 12 112708893 112708893 single base substitution C A intron_variant ESAD-UK 12 112710921 112710921 single base substitution T C intron_variant ESAD-UK 12 112712560 112712560 single base substitution C T intron_variant ESAD-UK 12 112712560 112712560 single base substitution C T upstream_gene_variant ESAD-UK 12 112714493 112714493 single base substitution C T intron_variant ESAD-UK 12 112714493 112714493 single base substitution C T upstream_gene_variant ESAD-UK 12 112717352 112717352 deletion of <=200bp A - intron_variant ESAD-UK 12 112717662 112717662 single base substitution C T intron_variant ESAD-UK 12 112719078 112719078 single base substitution A T intron_variant ESAD-UK 12 112719915 112719915 single base substitution C T intron_variant ESAD-UK 12 112723557 112723557 single base substitution C G intron_variant ESAD-UK 12 112723788 112723788 single base substitution A T intron_variant ESAD-UK 12 112723864 112723864 single base substitution G A intron_variant ESAD-UK 12 112723895 112723895 single base substitution G A intron_variant ESAD-UK 12 112723911 112723911 single base substitution G A intron_variant ESAD-UK 12 112724002 112724002 single base substitution G T intron_variant ESAD-UK 12 112727385 112727385 single base substitution T G intron_variant ESAD-UK 12 112729579 112729579 single base substitution G C intron_variant ESAD-UK 12 112729600 112729600 single base substitution G A intron_variant ESAD-UK 12 112729724 112729724 single base substitution T C intron_variant ESAD-UK 12 112732507 112732507 insertion of <=200bp - CGGCCTC intron_variant ESAD-UK 12 112733612 112733612 single base substitution A T intron_variant ESAD-UK 12 112733625 112733625 insertion of <=200bp - AC intron_variant ESAD-UK 12 112736843 112736843 single base substitution G A intron_variant ESAD-UK 12 112737948 112737948 single base substitution G A intron_variant ESAD-UK 12 112739520 112739520 single base substitution T C intron_variant ESAD-UK 12 112741071 112741071 single base substitution C G intron_variant ESAD-UK 12 112744015 112744015 single base substitution T G intron_variant ESAD-UK 12 112744015 112744015 single base substitution T G synonymous_variant P252P 756A>C ESAD-UK 12 112744015 112744015 single base substitution T G synonymous_variant P2P 6A>C ESAD-UK 12 112744912 112744912 single base substitution A G intron_variant ESAD-UK 12 112747046 112747046 deletion of <=200bp A - intron_variant ESAD-UK 12 112747837 112747837 single base substitution A G intron_variant ESAD-UK 12 112748417 112748417 single base substitution T C intron_variant ESAD-UK 12 112751221 112751221 single base substitution C T intron_variant ESAD-UK 12 112753029 112753029 single base substitution T C intron_variant ESAD-UK 12 112756077 112756077 single base substitution G C intron_variant ESAD-UK 12 112758117 112758117 single base substitution G A intron_variant ESAD-UK 12 112764939 112764939 single base substitution G A intron_variant ESAD-UK 12 112766481 112766481 single base substitution G T intron_variant ESAD-UK 12 112766656 112766656 single base substitution T A intron_variant ESAD-UK 12 112767182 112767182 single base substitution T G intron_variant ESAD-UK 12 112769591 112769591 single base substitution G A intron_variant ESAD-UK 12 112769819 112769819 single base substitution G A intron_variant ESAD-UK 12 112770655 112770655 single base substitution C T intron_variant ESAD-UK 12 112771144 112771144 single base substitution C T intron_variant ESAD-UK 12 112777681 112777681 single base substitution C A intron_variant ESAD-UK 12 112783754 112783754 single base substitution T C intron_variant ESAD-UK 12 112784514 112784514 single base substitution G A intron_variant ESAD-UK 12 112786560 112786560 deletion of <=200bp A - intron_variant ESAD-UK 12 112786956 112786956 single base substitution G A intron_variant ESAD-UK 12 112790428 112790428 single base substitution T G intron_variant ESAD-UK 12 112791246 112791246 deletion of <=200bp A - intron_variant ESAD-UK 12 112791962 112791962 single base substitution G A intron_variant ESAD-UK 12 112796263 112796263 single base substitution A G intron_variant ESAD-UK 12 112796685 112796685 single base substitution T G intron_variant ESAD-UK 12 112797247 112797247 single base substitution G A intron_variant ESAD-UK 12 112798689 112798689 single base substitution G A intron_variant ESAD-UK 12 112799006 112799006 single base substitution C A intron_variant ESAD-UK 12 112800774 112800774 single base substitution G A intron_variant ESAD-UK 12 112801044 112801044 single base substitution A G intron_variant ESAD-UK 12 112803628 112803628 single base substitution T C intron_variant ESAD-UK 12 112804133 112804133 single base substitution G A intron_variant ESAD-UK 12 112809477 112809477 single base substitution G T intron_variant ESAD-UK 12 112809510 112809510 single base substitution G A intron_variant ESAD-UK 12 112810103 112810103 single base substitution G A intron_variant ESAD-UK 12 112810760 112810760 single base substitution C T intron_variant ESAD-UK 12 112812310 112812310 single base substitution G A intron_variant ESAD-UK 12 112813198 112813198 single base substitution G C intron_variant ESAD-UK 12 112813322 112813323 deletion of <=200bp TC - intron_variant ESAD-UK 12 112813682 112813682 single base substitution G A intron_variant ESAD-UK 12 112815968 112815968 single base substitution T C intron_variant ESAD-UK 12 112819297 112819297 deletion of <=200bp A - intron_variant ESAD-UK 12 112820368 112820368 single base substitution C T upstream_gene_variant ESCA-CN 12 112602037 112602037 single base substitution C T downstream_gene_variant ESCA-CN 12 112602037 112602037 single base substitution C T exon_variant ESCA-CN 12 112602037 112602037 single base substitution C T missense_variant A3771T 11311G>A ESCA-CN 12 112602037 112602037 single base substitution C T missense_variant A4021T 12061G>A ESCA-CN 12 112602037 112602037 single base substitution C T missense_variant A4047T 12139G>A ESCA-CN 12 112602037 112602037 single base substitution C T upstream_gene_variant ESCA-CN 12 112608313 112608315 deletion of <=200bp CCC - downstream_gene_variant ESCA-CN 12 112608313 112608315 deletion of <=200bp CCC - intron_variant ESCA-CN 12 112608313 112608315 deletion of <=200bp CCC - upstream_gene_variant ESCA-CN 12 112622642 112622642 single base substitution G C synonymous_variant G2954G 8862C>G ESCA-CN 12 112622642 112622642 single base substitution G C synonymous_variant G3204G 9612C>G ESCA-CN 12 112622642 112622642 single base substitution G C synonymous_variant G3230G 9690C>G ESCA-CN 12 112628719 112628719 single base substitution C G downstream_gene_variant ESCA-CN 12 112628719 112628719 single base substitution C G missense_variant E2693Q 8077G>C ESCA-CN 12 112628719 112628719 single base substitution C G missense_variant E2943Q 8827G>C ESCA-CN 12 112628719 112628719 single base substitution C G missense_variant E2969Q 8905G>C ESCA-CN 12 112687992 112687992 single base substitution C T exon_variant ESCA-CN 12 112687992 112687992 single base substitution C T synonymous_variant R1130R 3390G>A ESCA-CN 12 112687992 112687992 single base substitution C T synonymous_variant R1156R 3468G>A ESCA-CN 12 112687992 112687992 single base substitution C T synonymous_variant R880R 2640G>A ESCA-CN 12 112701966 112701966 single base substitution G A downstream_gene_variant ESCA-CN 12 112701966 112701966 single base substitution G A exon_variant ESCA-CN 12 112701966 112701966 single base substitution G A synonymous_variant L458L 1374C>T ESCA-CN 12 112701966 112701966 single base substitution G A synonymous_variant L708L 2124C>T ESCA-CN 12 112701966 112701966 single base substitution G A synonymous_variant L746L 2238C>T ESCA-CN 12 112701966 112701966 single base substitution G A upstream_gene_variant ESCA-CN 12 112704961 112704961 single base substitution A G intron_variant ESCA-CN 12 112708208 112708208 single base substitution C T exon_variant ESCA-CN 12 112708208 112708208 single base substitution C T intron_variant ESCA-CN 12 112708208 112708208 single base substitution C T synonymous_variant A234A 702G>A ESCA-CN 12 112708208 112708208 single base substitution C T synonymous_variant A484A 1452G>A ESCA-CN 12 112708208 112708208 single base substitution C T synonymous_variant A522A 1566G>A ESCA-CN 12 112747367 112747367 single base substitution G A intron_variant ESCA-CN 12 112747367 112747367 single base substitution G A splice_region_variant GBM-US 12 112605619 112605619 single base substitution T A downstream_gene_variant GBM-US 12 112605619 112605619 single base substitution T A missense_variant K3682M 11045A>T GBM-US 12 112605619 112605619 single base substitution T A missense_variant K3932M 11795A>T GBM-US 12 112605619 112605619 single base substitution T A missense_variant K3958M 11873A>T GBM-US 12 112605619 112605619 single base substitution T A splice_region_variant GBM-US 12 112620944 112620944 single base substitution C G missense_variant V3214L 9640G>C GBM-US 12 112620944 112620944 single base substitution C G missense_variant V3464L 10390G>C GBM-US 12 112620944 112620944 single base substitution C G missense_variant V3490L 10468G>C GBM-US 12 112622744 112622744 single base substitution G A synonymous_variant S2920S 8760C>T GBM-US 12 112622744 112622744 single base substitution G A synonymous_variant S3170S 9510C>T GBM-US 12 112622744 112622744 single base substitution G A synonymous_variant S3196S 9588C>T GBM-US 12 112622897 112622897 single base substitution C T synonymous_variant S2869S 8607G>A GBM-US 12 112622897 112622897 single base substitution C T synonymous_variant S3119S 9357G>A GBM-US 12 112622897 112622897 single base substitution C T synonymous_variant S3145S 9435G>A GBM-US 12 112703783 112703783 single base substitution C T exon_variant GBM-US 12 112703783 112703783 single base substitution C T synonymous_variant E367E 1101G>A GBM-US 12 112703783 112703783 single base substitution C T synonymous_variant E45E 135G>A GBM-US 12 112703783 112703783 single base substitution C T synonymous_variant E617E 1851G>A GBM-US 12 112703783 112703783 single base substitution C T synonymous_variant E655E 1965G>A GBM-US 12 112703783 112703783 single base substitution C T upstream_gene_variant GBM-US 12 112721040 112721040 single base substitution C T intron_variant GBM-US 12 112721040 112721040 single base substitution C T missense_variant E324K 970G>A GBM-US 12 112721040 112721040 single base substitution C T missense_variant E74K 220G>A KIRC-US 12 112605691 112605691 single base substitution A C downstream_gene_variant KIRC-US 12 112605691 112605691 single base substitution A C exon_variant KIRC-US 12 112605691 112605691 single base substitution A C missense_variant V3658G 10973T>G KIRC-US 12 112605691 112605691 single base substitution A C missense_variant V3908G 11723T>G KIRC-US 12 112605691 112605691 single base substitution A C missense_variant V3934G 11801T>G KIRC-US 12 112605691 112605691 single base substitution A C upstream_gene_variant KIRC-US 12 112616787 112616787 single base substitution G A missense_variant R3349W 10045C>T KIRC-US 12 112616787 112616787 single base substitution G A missense_variant R3599W 10795C>T KIRC-US 12 112616787 112616787 single base substitution G A missense_variant R3625W 10873C>T KIRC-US 12 112616787 112616787 single base substitution G A upstream_gene_variant KIRC-US 12 112650409 112650409 single base substitution G T downstream_gene_variant KIRC-US 12 112650409 112650409 single base substitution G T exon_variant KIRC-US 12 112650409 112650409 single base substitution G T missense_variant P2082H 6245C>A KIRC-US 12 112650409 112650409 single base substitution G T missense_variant P2332H 6995C>A KIRC-US 12 112650409 112650409 single base substitution G T missense_variant P2358H 7073C>A KIRC-US 12 112650435 112650435 single base substitution G C downstream_gene_variant KIRC-US 12 112650435 112650435 single base substitution G C exon_variant KIRC-US 12 112650435 112650435 single base substitution G C synonymous_variant G2073G 6219C>G KIRC-US 12 112650435 112650435 single base substitution G C synonymous_variant G2323G 6969C>G KIRC-US 12 112650435 112650435 single base substitution G C synonymous_variant G2349G 7047C>G KIRC-US 12 112673071 112673071 single base substitution C A splice_acceptor_variant KIRC-US 12 112673071 112673071 single base substitution C A upstream_gene_variant KIRC-US 12 112688106 112688106 single base substitution G C exon_variant KIRC-US 12 112688106 112688106 single base substitution G C synonymous_variant T1092T 3276C>G KIRC-US 12 112688106 112688106 single base substitution G C synonymous_variant T1118T 3354C>G KIRC-US 12 112688106 112688106 single base substitution G C synonymous_variant T842T 2526C>G KIRP-US 12 112605266 112605266 single base substitution C T downstream_gene_variant KIRP-US 12 112605266 112605266 single base substitution C T exon_variant KIRP-US 12 112605266 112605266 single base substitution C T missense_variant G3708E 11123G>A KIRP-US 12 112605266 112605266 single base substitution C T missense_variant G3958E 11873G>A KIRP-US 12 112605266 112605266 single base substitution C T missense_variant G3984E 11951G>A KIRP-US 12 112623045 112623045 insertion of <=200bp - C frameshift_variant A2820A? KIRP-US 12 112623045 112623045 insertion of <=200bp - C frameshift_variant A3070A? KIRP-US 12 112623045 112623045 insertion of <=200bp - C frameshift_variant A3096A? KIRP-US 12 112668608 112668608 single base substitution G A exon_variant KIRP-US 12 112668608 112668608 single base substitution G A synonymous_variant P1651P 4953C>T KIRP-US 12 112668608 112668608 single base substitution G A synonymous_variant P1901P 5703C>T KIRP-US 12 112668608 112668608 single base substitution G A synonymous_variant P1927P 5781C>T KIRP-US 12 112668608 112668608 single base substitution G A upstream_gene_variant KIRP-US 12 112694159 112694159 single base substitution C T downstream_gene_variant KIRP-US 12 112694159 112694159 single base substitution C T exon_variant KIRP-US 12 112694159 112694159 single base substitution C T missense_variant D666N 1996G>A KIRP-US 12 112694159 112694159 single base substitution C T missense_variant D916N 2746G>A KIRP-US 12 112694159 112694159 single base substitution C T missense_variant D952N 2854G>A LAML-KR 12 112593130 112593130 single base substitution G T downstream_gene_variant LAML-KR 12 112600030 112600030 single base substitution T G 3_prime_UTR_variant LAML-KR 12 112600030 112600030 single base substitution T G downstream_gene_variant LAML-KR 12 112600030 112600030 single base substitution T G exon_variant LAML-KR 12 112600030 112600030 single base substitution T G upstream_gene_variant LAML-KR 12 112631346 112631346 single base substitution G A downstream_gene_variant LAML-KR 12 112631346 112631346 single base substitution G A missense_variant A2539V 7616C>T LAML-KR 12 112631346 112631346 single base substitution G A missense_variant A2789V 8366C>T LAML-KR 12 112631346 112631346 single base substitution G A missense_variant A2815V 8444C>T LAML-KR 12 112638692 112638692 single base substitution T C downstream_gene_variant LAML-KR 12 112638692 112638692 single base substitution T C intron_variant LAML-KR 12 112644924 112644924 single base substitution A G intron_variant LAML-KR 12 112650127 112650127 single base substitution A G downstream_gene_variant LAML-KR 12 112650127 112650127 single base substitution A G intron_variant LAML-KR 12 112707398 112707398 single base substitution T C intron_variant LAML-KR 12 112734590 112734590 single base substitution T G intron_variant LAML-KR 12 112734756 112734756 single base substitution T G intron_variant LAML-KR 12 112790157 112790157 single base substitution G T intron_variant LAML-KR 12 112804519 112804519 single base substitution T C intron_variant LGG-US 12 112617095 112617095 single base substitution G C synonymous_variant V3276V 9828C>G LGG-US 12 112617095 112617095 single base substitution G C synonymous_variant V3526V 10578C>G LGG-US 12 112617095 112617095 single base substitution G C synonymous_variant V3552V 10656C>G LGG-US 12 112617095 112617095 single base substitution G C upstream_gene_variant LGG-US 12 112647838 112647838 single base substitution G A exon_variant LGG-US 12 112647838 112647838 single base substitution G A synonymous_variant A2194A 6582C>T LGG-US 12 112647838 112647838 single base substitution G A synonymous_variant A2444A 7332C>T LGG-US 12 112647838 112647838 single base substitution G A synonymous_variant A2470A 7410C>T LGG-US 12 112674788 112674788 single base substitution G A missense_variant A1380V 4139C>T LGG-US 12 112674788 112674788 single base substitution G A missense_variant A1630V 4889C>T LGG-US 12 112674788 112674788 single base substitution G A missense_variant A1656V 4967C>T LICA-CN 12 112632859 112632859 single base substitution C A exon_variant LICA-CN 12 112632859 112632859 single base substitution C A missense_variant R2438L 7313G>T LICA-CN 12 112632859 112632859 single base substitution C A missense_variant R2688L 8063G>T LICA-CN 12 112632859 112632859 single base substitution C A missense_variant R2714L 8141G>T LICA-CN 12 112669456 112669456 single base substitution C A missense_variant A1599S 4795G>T LICA-CN 12 112669456 112669456 single base substitution C A missense_variant A1849S 5545G>T LICA-CN 12 112669456 112669456 single base substitution C A missense_variant A1875S 5623G>T LICA-CN 12 112669456 112669456 single base substitution C A upstream_gene_variant LICA-CN 12 112685977 112685977 single base substitution T A downstream_gene_variant LICA-CN 12 112685977 112685977 single base substitution T A splice_acceptor_variant LICA-CN 12 112688821 112688821 single base substitution C G exon_variant LICA-CN 12 112688821 112688821 single base substitution C G missense_variant E1052Q 3154G>C LICA-CN 12 112688821 112688821 single base substitution C G missense_variant E1078Q 3232G>C LICA-CN 12 112688821 112688821 single base substitution C G missense_variant E802Q 2404G>C LICA-CN 12 112694240 112694240 single base substitution T C downstream_gene_variant LICA-CN 12 112694240 112694240 single base substitution T C exon_variant LICA-CN 12 112694240 112694240 single base substitution T C missense_variant T639A 1915A>G LICA-CN 12 112694240 112694240 single base substitution T C missense_variant T889A 2665A>G LICA-CN 12 112694240 112694240 single base substitution T C missense_variant T925A 2773A>G LICA-CN 12 112708140 112708140 single base substitution T A exon_variant LICA-CN 12 112708140 112708140 single base substitution T A intron_variant LICA-CN 12 112708140 112708140 single base substitution T A missense_variant K257M 770A>T LICA-CN 12 112708140 112708140 single base substitution T A missense_variant K507M 1520A>T LICA-CN 12 112708140 112708140 single base substitution T A missense_variant K545M 1634A>T LICA-FR 12 112593107 112593108 deletion of <=200bp TT - downstream_gene_variant LICA-FR 12 112597940 112597940 single base substitution G A downstream_gene_variant LICA-FR 12 112600193 112600193 single base substitution A G downstream_gene_variant LICA-FR 12 112600193 112600193 single base substitution A G stop_lost *3997R 11989T>C LICA-FR 12 112600193 112600193 single base substitution A G stop_lost *4247R 12739T>C LICA-FR 12 112600193 112600193 single base substitution A G stop_lost *4273R 12817T>C LICA-FR 12 112600193 112600193 single base substitution A G upstream_gene_variant LICA-FR 12 112605468 112605468 single base substitution G C downstream_gene_variant LICA-FR 12 112605468 112605468 single base substitution G C intron_variant LICA-FR 12 112613553 112613553 single base substitution G T missense_variant L3439I 10315C>A LICA-FR 12 112613553 112613553 single base substitution G T missense_variant L3689I 11065C>A LICA-FR 12 112613553 112613553 single base substitution G T missense_variant L3715I 11143C>A LICA-FR 12 112613553 112613553 single base substitution G T missense_variant L73I 217C>A LICA-FR 12 112622598 112622598 single base substitution C T missense_variant G2969D 8906G>A LICA-FR 12 112622598 112622598 single base substitution C T missense_variant G3219D 9656G>A LICA-FR 12 112622598 112622598 single base substitution C T missense_variant G3245D 9734G>A LICA-FR 12 112627380 112627380 single base substitution G A intron_variant LICA-FR 12 112630992 112630992 single base substitution C T downstream_gene_variant LICA-FR 12 112630992 112630992 single base substitution C T missense_variant A2565T 7693G>A LICA-FR 12 112630992 112630992 single base substitution C T missense_variant A2815T 8443G>A LICA-FR 12 112630992 112630992 single base substitution C T missense_variant A2841T 8521G>A LICA-FR 12 112637830 112637830 single base substitution G A downstream_gene_variant LICA-FR 12 112637830 112637830 single base substitution G A intron_variant LICA-FR 12 112650419 112650419 single base substitution C T downstream_gene_variant LICA-FR 12 112650419 112650419 single base substitution C T exon_variant LICA-FR 12 112650419 112650419 single base substitution C T missense_variant G2079R 6235G>A LICA-FR 12 112650419 112650419 single base substitution C T missense_variant G2329R 6985G>A LICA-FR 12 112650419 112650419 single base substitution C T missense_variant G2355R 7063G>A LICA-FR 12 112665941 112665941 single base substitution G A exon_variant LICA-FR 12 112665941 112665941 single base substitution G A missense_variant S1847L 5540C>T LICA-FR 12 112665941 112665941 single base substitution G A missense_variant S2097L 6290C>T LICA-FR 12 112665941 112665941 single base substitution G A missense_variant S2123L 6368C>T LICA-FR 12 112673576 112673576 single base substitution A C synonymous_variant G1397G 4191T>G LICA-FR 12 112673576 112673576 single base substitution A C synonymous_variant G1647G 4941T>G LICA-FR 12 112673576 112673576 single base substitution A C synonymous_variant G1673G 5019T>G LICA-FR 12 112673576 112673576 single base substitution A C upstream_gene_variant LICA-FR 12 112681251 112681251 single base substitution C T missense_variant V1200M 3598G>A LICA-FR 12 112681251 112681251 single base substitution C T missense_variant V1450M 4348G>A LICA-FR 12 112681251 112681251 single base substitution C T missense_variant V1476M 4426G>A LICA-FR 12 112688795 112688795 single base substitution C T exon_variant LICA-FR 12 112688795 112688795 single base substitution C T synonymous_variant L1060L 3180G>A LICA-FR 12 112688795 112688795 single base substitution C T synonymous_variant L1086L 3258G>A LICA-FR 12 112688795 112688795 single base substitution C T synonymous_variant L810L 2430G>A LICA-FR 12 112690687 112690687 single base substitution C T intron_variant LICA-FR 12 112701907 112701907 insertion of <=200bp - G downstream_gene_variant LICA-FR 12 112701907 112701907 insertion of <=200bp - G exon_variant LICA-FR 12 112701907 112701907 insertion of <=200bp - G frameshift_variant G478G? LICA-FR 12 112701907 112701907 insertion of <=200bp - G frameshift_variant G728G? LICA-FR 12 112701907 112701907 insertion of <=200bp - G frameshift_variant G766G? LICA-FR 12 112701907 112701907 insertion of <=200bp - G upstream_gene_variant LICA-FR 12 112708751 112708751 single base substitution T A intron_variant LICA-FR 12 112708930 112708930 single base substitution C G intron_variant LICA-FR 12 112719804 112719804 single base substitution T C intron_variant LICA-FR 12 112740783 112740783 deletion of <=200bp T - intron_variant LICA-FR 12 112762675 112762675 deletion of <=200bp C - intron_variant LIHC-US 12 112601506 112601506 single base substitution C T downstream_gene_variant LIHC-US 12 112601506 112601506 single base substitution C T exon_variant LIHC-US 12 112601506 112601506 single base substitution C T missense_variant R3824Q 11471G>A LIHC-US 12 112601506 112601506 single base substitution C T missense_variant R4074Q 12221G>A LIHC-US 12 112601506 112601506 single base substitution C T missense_variant R4100Q 12299G>A LIHC-US 12 112601506 112601506 single base substitution C T upstream_gene_variant LIHC-US 12 112622701 112622701 single base substitution C G missense_variant A2935P 8803G>C LIHC-US 12 112622701 112622701 single base substitution C G missense_variant A3185P 9553G>C LIHC-US 12 112622701 112622701 single base substitution C G missense_variant A3211P 9631G>C LIHC-US 12 112688787 112688787 single base substitution T A exon_variant LIHC-US 12 112688787 112688787 single base substitution T A missense_variant K1063I 3188A>T LIHC-US 12 112688787 112688787 single base substitution T A missense_variant K1089I 3266A>T LIHC-US 12 112688787 112688787 single base substitution T A missense_variant K813I 2438A>T LIHC-US 12 112703691 112703696 deletion of <=200bp TCATCC - disruptive_inframe_deletion EDD396D LIHC-US 12 112703691 112703696 deletion of <=200bp TCATCC - disruptive_inframe_deletion EDD646D LIHC-US 12 112703691 112703696 deletion of <=200bp TCATCC - disruptive_inframe_deletion EDD684D LIHC-US 12 112703691 112703696 deletion of <=200bp TCATCC - downstream_gene_variant LIHC-US 12 112703691 112703696 deletion of <=200bp TCATCC - exon_variant LIHC-US 12 112703691 112703696 deletion of <=200bp TCATCC - upstream_gene_variant LIHC-US 12 112717077 112717077 single base substitution T G intron_variant LIHC-US 12 112717077 112717077 single base substitution T G missense_variant T154P 460A>C LIHC-US 12 112717077 112717077 single base substitution T G missense_variant T404P 1210A>C LINC-JP 12 112601111 112601111 single base substitution C A downstream_gene_variant LINC-JP 12 112601111 112601111 single base substitution C A intron_variant LINC-JP 12 112601111 112601111 single base substitution C A upstream_gene_variant LINC-JP 12 112601163 112601163 single base substitution G A downstream_gene_variant LINC-JP 12 112601163 112601163 single base substitution G A intron_variant LINC-JP 12 112601163 112601163 single base substitution G A upstream_gene_variant LINC-JP 12 112606952 112606952 single base substitution G T downstream_gene_variant LINC-JP 12 112606952 112606952 single base substitution G T intron_variant LINC-JP 12 112606952 112606952 single base substitution G T upstream_gene_variant LINC-JP 12 112607268 112607268 single base substitution C A downstream_gene_variant LINC-JP 12 112607268 112607268 single base substitution C A intron_variant LINC-JP 12 112607268 112607268 single base substitution C A upstream_gene_variant LINC-JP 12 112618065 112618065 single base substitution C T intron_variant LINC-JP 12 112618065 112618065 single base substitution C T upstream_gene_variant LINC-JP 12 112623046 112623046 insertion of <=200bp - C frameshift_variant A2820G? LINC-JP 12 112623046 112623046 insertion of <=200bp - C frameshift_variant A3070G? LINC-JP 12 112623046 112623046 insertion of <=200bp - C frameshift_variant A3096G? LINC-JP 12 112632631 112632631 single base substitution T C downstream_gene_variant LINC-JP 12 112632631 112632631 single base substitution T C intron_variant LINC-JP 12 112643583 112643583 single base substitution G T intron_variant LINC-JP 12 112643583 112643583 single base substitution G T upstream_gene_variant LINC-JP 12 112647916 112647916 single base substitution T C exon_variant LINC-JP 12 112647916 112647916 single base substitution T C synonymous_variant A2168A 6504A>G LINC-JP 12 112647916 112647916 single base substitution T C synonymous_variant A2418A 7254A>G LINC-JP 12 112647916 112647916 single base substitution T C synonymous_variant A2444A 7332A>G LINC-JP 12 112650442 112650453 deletion of <=200bp CCTGCCACGTCA - downstream_gene_variant LINC-JP 12 112650442 112650453 deletion of <=200bp CCTGCCACGTCA - splice_region_variant LINC-JP 12 112654547 112654547 single base substitution C G downstream_gene_variant LINC-JP 12 112654547 112654547 single base substitution C G intron_variant LINC-JP 12 112654751 112654751 single base substitution C T intron_variant LINC-JP 12 112658111 112658111 single base substitution C T intron_variant LINC-JP 12 112658111 112658111 single base substitution C T upstream_gene_variant LINC-JP 12 112665751 112665751 single base substitution A C intron_variant LINC-JP 12 112665770 112665770 single base substitution A C intron_variant LINC-JP 12 112665772 112665772 single base substitution T G intron_variant LINC-JP 12 112666625 112666625 single base substitution G C intron_variant LINC-JP 12 112666625 112666625 single base substitution G C upstream_gene_variant LINC-JP 12 112675700 112675700 single base substitution A G intron_variant LINC-JP 12 112677814 112677814 single base substitution C T missense_variant C1237Y 3710G>A LINC-JP 12 112677814 112677814 single base substitution C T missense_variant C1487Y 4460G>A LINC-JP 12 112677814 112677814 single base substitution C T missense_variant C1513Y 4538G>A LINC-JP 12 112682017 112682017 single base substitution A T intron_variant LINC-JP 12 112682019 112682019 single base substitution T A intron_variant LINC-JP 12 112688167 112688167 single base substitution A C exon_variant LINC-JP 12 112688167 112688167 single base substitution A C missense_variant V1072G 3215T>G LINC-JP 12 112688167 112688167 single base substitution A C missense_variant V1098G 3293T>G LINC-JP 12 112688167 112688167 single base substitution A C missense_variant V822G 2465T>G LINC-JP 12 112689154 112689154 single base substitution T C intron_variant LINC-JP 12 112700347 112700347 single base substitution G A downstream_gene_variant LINC-JP 12 112700347 112700347 single base substitution G A intron_variant LINC-JP 12 112700347 112700347 single base substitution G A upstream_gene_variant LINC-JP 12 112711338 112711338 single base substitution C G intron_variant LINC-JP 12 112721759 112721759 single base substitution C T intron_variant LINC-JP 12 112724584 112724584 single base substitution C T intron_variant LINC-JP 12 112732964 112732964 single base substitution C G intron_variant LINC-JP 12 112733614 112733614 single base substitution A T intron_variant LINC-JP 12 112734020 112734020 single base substitution G T intron_variant LINC-JP 12 112737713 112737713 single base substitution T C intron_variant LINC-JP 12 112751012 112751012 single base substitution T C intron_variant LINC-JP 12 112752072 112752072 single base substitution C T intron_variant LINC-JP 12 112752160 112752160 single base substitution C A intron_variant LINC-JP 12 112766405 112766405 single base substitution G C intron_variant LINC-JP 12 112766406 112766406 single base substitution C T intron_variant LINC-JP 12 112770628 112770628 single base substitution C A intron_variant LINC-JP 12 112782230 112782230 single base substitution T C intron_variant LINC-JP 12 112801030 112801030 single base substitution T C intron_variant LINC-JP 12 112809705 112809705 single base substitution A G intron_variant LINC-JP 12 112814910 112814910 single base substitution T C intron_variant LIRI-JP 12 112593790 112593790 single base substitution A G downstream_gene_variant LIRI-JP 12 112594149 112594149 single base substitution C T downstream_gene_variant LIRI-JP 12 112596127 112596127 single base substitution T G downstream_gene_variant LIRI-JP 12 112597352 112597352 single base substitution G T downstream_gene_variant LIRI-JP 12 112597353 112597353 single base substitution C A downstream_gene_variant LIRI-JP 12 112603808 112603808 single base substitution C A downstream_gene_variant LIRI-JP 12 112603808 112603808 single base substitution C A intron_variant LIRI-JP 12 112603808 112603808 single base substitution C A upstream_gene_variant LIRI-JP 12 112604834 112604834 single base substitution A C downstream_gene_variant LIRI-JP 12 112604834 112604834 single base substitution A C exon_variant LIRI-JP 12 112604834 112604834 single base substitution A C intron_variant LIRI-JP 12 112604834 112604834 single base substitution A C upstream_gene_variant LIRI-JP 12 112604860 112604860 single base substitution A G downstream_gene_variant LIRI-JP 12 112604860 112604860 single base substitution A G exon_variant LIRI-JP 12 112604860 112604860 single base substitution A G intron_variant LIRI-JP 12 112604860 112604860 single base substitution A G upstream_gene_variant LIRI-JP 12 112607226 112607226 single base substitution T C downstream_gene_variant LIRI-JP 12 112607226 112607226 single base substitution T C intron_variant LIRI-JP 12 112607226 112607226 single base substitution T C upstream_gene_variant LIRI-JP 12 112608815 112608815 single base substitution T C intron_variant LIRI-JP 12 112608815 112608815 single base substitution T C missense_variant D253G 758A>G LIRI-JP 12 112608815 112608815 single base substitution T C upstream_gene_variant LIRI-JP 12 112612106 112612106 single base substitution T C intron_variant LIRI-JP 12 112612106 112612106 single base substitution T C upstream_gene_variant LIRI-JP 12 112613757 112613757 single base substitution C A intron_variant LIRI-JP 12 112615125 112615125 single base substitution T C intron_variant LIRI-JP 12 112615125 112615125 single base substitution T C upstream_gene_variant LIRI-JP 12 112616155 112616155 single base substitution G A intron_variant LIRI-JP 12 112616155 112616155 single base substitution G A upstream_gene_variant LIRI-JP 12 112618665 112618665 single base substitution G T intron_variant LIRI-JP 12 112618665 112618665 single base substitution G T upstream_gene_variant LIRI-JP 12 112618666 112618666 single base substitution C G intron_variant LIRI-JP 12 112618666 112618666 single base substitution C G upstream_gene_variant LIRI-JP 12 112619226 112619226 single base substitution C A intron_variant LIRI-JP 12 112619226 112619226 single base substitution C A upstream_gene_variant LIRI-JP 12 112619424 112619424 single base substitution G A intron_variant LIRI-JP 12 112619424 112619424 single base substitution G A upstream_gene_variant LIRI-JP 12 112621021 112621021 single base substitution T C missense_variant N3188S 9563A>G LIRI-JP 12 112621021 112621021 single base substitution T C missense_variant N3438S 10313A>G LIRI-JP 12 112621021 112621021 single base substitution T C missense_variant N3464S 10391A>G LIRI-JP 12 112622777 112622777 single base substitution G A synonymous_variant S2909S 8727C>T LIRI-JP 12 112622777 112622777 single base substitution G A synonymous_variant S3159S 9477C>T LIRI-JP 12 112622777 112622777 single base substitution G A synonymous_variant S3185S 9555C>T LIRI-JP 12 112628041 112628041 single base substitution T G downstream_gene_variant LIRI-JP 12 112628041 112628041 single base substitution T G intron_variant LIRI-JP 12 112629317 112629317 single base substitution G C downstream_gene_variant LIRI-JP 12 112629317 112629317 single base substitution G C intron_variant LIRI-JP 12 112630445 112630445 single base substitution T A downstream_gene_variant LIRI-JP 12 112630445 112630445 single base substitution T A missense_variant N2649Y 7945A>T LIRI-JP 12 112630445 112630445 single base substitution T A missense_variant N2899Y 8695A>T LIRI-JP 12 112630445 112630445 single base substitution T A missense_variant N2925Y 8773A>T LIRI-JP 12 112631404 112631404 single base substitution C T downstream_gene_variant LIRI-JP 12 112631404 112631404 single base substitution C T missense_variant A2520T 7558G>A LIRI-JP 12 112631404 112631404 single base substitution C T missense_variant A2770T 8308G>A LIRI-JP 12 112631404 112631404 single base substitution C T missense_variant A2796T 8386G>A LIRI-JP 12 112631879 112631879 single base substitution C A downstream_gene_variant LIRI-JP 12 112631879 112631879 single base substitution C A intron_variant LIRI-JP 12 112633650 112633650 single base substitution A G intron_variant LIRI-JP 12 112636092 112636092 single base substitution C A downstream_gene_variant LIRI-JP 12 112636092 112636092 single base substitution C A intron_variant LIRI-JP 12 112637105 112637105 single base substitution T C downstream_gene_variant LIRI-JP 12 112637105 112637105 single base substitution T C intron_variant LIRI-JP 12 112639216 112639216 single base substitution A C downstream_gene_variant LIRI-JP 12 112639216 112639216 single base substitution A C exon_variant LIRI-JP 12 112639216 112639216 single base substitution A C intron_variant LIRI-JP 12 112639605 112639605 insertion of <=200bp - A downstream_gene_variant LIRI-JP 12 112639605 112639605 insertion of <=200bp - A intron_variant LIRI-JP 12 112639605 112639605 insertion of <=200bp - A upstream_gene_variant LIRI-JP 12 112641125 112641125 single base substitution T C exon_variant LIRI-JP 12 112641125 112641125 single base substitution T C intron_variant LIRI-JP 12 112641125 112641125 single base substitution T C upstream_gene_variant LIRI-JP 12 112642671 112642671 single base substitution T C intron_variant LIRI-JP 12 112642671 112642671 single base substitution T C upstream_gene_variant LIRI-JP 12 112643162 112643162 single base substitution C T intron_variant LIRI-JP 12 112643162 112643162 single base substitution C T upstream_gene_variant LIRI-JP 12 112643818 112643818 single base substitution T C intron_variant LIRI-JP 12 112643818 112643818 single base substitution T C upstream_gene_variant LIRI-JP 12 112643849 112643849 single base substitution T A intron_variant LIRI-JP 12 112643849 112643849 single base substitution T A upstream_gene_variant LIRI-JP 12 112644620 112644620 single base substitution G A intron_variant LIRI-JP 12 112645216 112645216 single base substitution G C intron_variant LIRI-JP 12 112645451 112645455 deletion of <=200bp CTTCA - intron_variant LIRI-JP 12 112645671 112645671 single base substitution A G splice_region_variant LIRI-JP 12 112646270 112646270 single base substitution T C intron_variant LIRI-JP 12 112648576 112648576 single base substitution T C intron_variant LIRI-JP 12 112650154 112650154 single base substitution G A downstream_gene_variant LIRI-JP 12 112650154 112650154 single base substitution G A intron_variant LIRI-JP 12 112653184 112653184 single base substitution T C downstream_gene_variant LIRI-JP 12 112653184 112653184 single base substitution T C intron_variant LIRI-JP 12 112654019 112654019 single base substitution T C downstream_gene_variant LIRI-JP 12 112654019 112654019 single base substitution T C intron_variant LIRI-JP 12 112654070 112654070 single base substitution G C downstream_gene_variant LIRI-JP 12 112654070 112654070 single base substitution G C intron_variant LIRI-JP 12 112654677 112654677 single base substitution C T exon_variant LIRI-JP 12 112654677 112654677 single base substitution C T missense_variant D2007N 6019G>A LIRI-JP 12 112654677 112654677 single base substitution C T missense_variant D2257N 6769G>A LIRI-JP 12 112654677 112654677 single base substitution C T missense_variant D2283N 6847G>A LIRI-JP 12 112657442 112657442 single base substitution T C intron_variant LIRI-JP 12 112657442 112657442 single base substitution T C upstream_gene_variant LIRI-JP 12 112658289 112658289 single base substitution T C intron_variant LIRI-JP 12 112658289 112658289 single base substitution T C upstream_gene_variant LIRI-JP 12 112659447 112659447 single base substitution C A downstream_gene_variant LIRI-JP 12 112659447 112659447 single base substitution C A intron_variant LIRI-JP 12 112659447 112659447 single base substitution C A upstream_gene_variant LIRI-JP 12 112662771 112662771 single base substitution A G downstream_gene_variant LIRI-JP 12 112662771 112662771 single base substitution A G intron_variant LIRI-JP 12 112663318 112663318 single base substitution A G downstream_gene_variant LIRI-JP 12 112663318 112663318 single base substitution A G intron_variant LIRI-JP 12 112668562 112668562 single base substitution C T exon_variant LIRI-JP 12 112668562 112668562 single base substitution C T missense_variant A1667T 4999G>A LIRI-JP 12 112668562 112668562 single base substitution C T missense_variant A1917T 5749G>A LIRI-JP 12 112668562 112668562 single base substitution C T missense_variant A1943T 5827G>A LIRI-JP 12 112668562 112668562 single base substitution C T upstream_gene_variant LIRI-JP 12 112669416 112669416 single base substitution T C missense_variant E1612G 4835A>G LIRI-JP 12 112669416 112669416 single base substitution T C missense_variant E1862G 5585A>G LIRI-JP 12 112669416 112669416 single base substitution T C missense_variant E1888G 5663A>G LIRI-JP 12 112669416 112669416 single base substitution T C upstream_gene_variant LIRI-JP 12 112670307 112670307 single base substitution T C intron_variant LIRI-JP 12 112670307 112670307 single base substitution T C upstream_gene_variant LIRI-JP 12 112673673 112673694 deletion of <=200bp AACCAATGAAATCTGATTTCAC - intron_variant LIRI-JP 12 112673673 112673694 deletion of <=200bp AACCAATGAAATCTGATTTCAC - upstream_gene_variant LIRI-JP 12 112679066 112679066 single base substitution G T intron_variant LIRI-JP 12 112685418 112685418 single base substitution A C downstream_gene_variant LIRI-JP 12 112685418 112685418 single base substitution A C intron_variant LIRI-JP 12 112687193 112687193 single base substitution T C downstream_gene_variant LIRI-JP 12 112687193 112687193 single base substitution T C intron_variant LIRI-JP 12 112692448 112692448 single base substitution T C downstream_gene_variant LIRI-JP 12 112692448 112692448 single base substitution T C intron_variant LIRI-JP 12 112692825 112692825 single base substitution G A downstream_gene_variant LIRI-JP 12 112692825 112692825 single base substitution G A intron_variant LIRI-JP 12 112693520 112693520 single base substitution C T downstream_gene_variant LIRI-JP 12 112693520 112693520 single base substitution C T intron_variant LIRI-JP 12 112693636 112693636 single base substitution T C downstream_gene_variant LIRI-JP 12 112693636 112693636 single base substitution T C intron_variant LIRI-JP 12 112694244 112694245 deletion of <=200bp CA - downstream_gene_variant LIRI-JP 12 112694244 112694245 deletion of <=200bp CA - exon_variant LIRI-JP 12 112694244 112694245 deletion of <=200bp CA - frameshift_variant V637 LIRI-JP 12 112694244 112694245 deletion of <=200bp CA - frameshift_variant V887 LIRI-JP 12 112694244 112694245 deletion of <=200bp CA - frameshift_variant V923 LIRI-JP 12 112698333 112698333 single base substitution T C intron_variant LIRI-JP 12 112703168 112703168 single base substitution T A downstream_gene_variant LIRI-JP 12 112703168 112703168 single base substitution T A intron_variant LIRI-JP 12 112703168 112703168 single base substitution T A upstream_gene_variant LIRI-JP 12 112704823 112704823 single base substitution T A intron_variant LIRI-JP 12 112704823 112704823 single base substitution T A upstream_gene_variant LIRI-JP 12 112707456 112707456 single base substitution T C intron_variant LIRI-JP 12 112708846 112708846 single base substitution T C intron_variant LIRI-JP 12 112711624 112711624 single base substitution A C intron_variant LIRI-JP 12 112711624 112711624 single base substitution A C upstream_gene_variant LIRI-JP 12 112713838 112713838 single base substitution T A intron_variant LIRI-JP 12 112713838 112713838 single base substitution T A upstream_gene_variant LIRI-JP 12 112713858 112713858 single base substitution C A intron_variant LIRI-JP 12 112713858 112713858 single base substitution C A upstream_gene_variant LIRI-JP 12 112715440 112715440 single base substitution C A intron_variant LIRI-JP 12 112715440 112715440 single base substitution C A upstream_gene_variant LIRI-JP 12 112715598 112715598 single base substitution T C intron_variant LIRI-JP 12 112715598 112715598 single base substitution T C upstream_gene_variant LIRI-JP 12 112718027 112718027 single base substitution T C intron_variant LIRI-JP 12 112718919 112718919 single base substitution T C intron_variant LIRI-JP 12 112719522 112719522 single base substitution T C intron_variant LIRI-JP 12 112720343 112720343 single base substitution T C intron_variant LIRI-JP 12 112720967 112720967 single base substitution A T intron_variant LIRI-JP 12 112720967 112720967 single base substitution A T missense_variant L348H 1043T>A LIRI-JP 12 112720967 112720967 single base substitution A T missense_variant L98H 293T>A LIRI-JP 12 112721417 112721417 single base substitution C A intron_variant LIRI-JP 12 112721488 112721488 single base substitution C G intron_variant LIRI-JP 12 112723733 112723733 single base substitution A C intron_variant LIRI-JP 12 112728877 112728877 single base substitution C T intron_variant LIRI-JP 12 112732818 112732818 single base substitution T A intron_variant LIRI-JP 12 112732857 112732857 single base substitution C T intron_variant LIRI-JP 12 112735324 112735324 single base substitution T C intron_variant LIRI-JP 12 112736277 112736277 single base substitution T C intron_variant LIRI-JP 12 112737261 112737261 single base substitution T C intron_variant LIRI-JP 12 112737559 112737559 single base substitution T C intron_variant LIRI-JP 12 112740467 112740467 single base substitution T G intron_variant LIRI-JP 12 112740510 112740510 single base substitution T A intron_variant LIRI-JP 12 112740987 112740987 single base substitution G T intron_variant LIRI-JP 12 112743515 112743515 single base substitution T C intron_variant LIRI-JP 12 112744510 112744510 single base substitution T A intron_variant LIRI-JP 12 112746600 112746600 single base substitution T C 5_prime_UTR_variant LIRI-JP 12 112746600 112746600 single base substitution T C intron_variant LIRI-JP 12 112746600 112746600 single base substitution T C missense_variant K230R 689A>G LIRI-JP 12 112746617 112746617 insertion of <=200bp - A 5_prime_UTR_variant LIRI-JP 12 112746617 112746617 insertion of <=200bp - A frameshift_variant P224P? LIRI-JP 12 112746617 112746617 insertion of <=200bp - A intron_variant LIRI-JP 12 112748030 112748030 single base substitution T C intron_variant LIRI-JP 12 112752314 112752314 single base substitution T C 5_prime_UTR_premature_start_codon_gain_variant LIRI-JP 12 112752314 112752314 single base substitution T C intron_variant LIRI-JP 12 112752314 112752314 single base substitution T C synonymous_variant L100L 300A>G LIRI-JP 12 112752515 112752515 single base substitution C T intron_variant LIRI-JP 12 112756506 112756506 single base substitution T C intron_variant LIRI-JP 12 112758409 112758409 single base substitution G A intron_variant LIRI-JP 12 112758769 112758769 single base substitution T C intron_variant LIRI-JP 12 112761568 112761568 single base substitution A C intron_variant LIRI-JP 12 112762630 112762630 single base substitution T C intron_variant LIRI-JP 12 112765468 112765468 single base substitution T C intron_variant LIRI-JP 12 112770254 112770254 single base substitution T C intron_variant LIRI-JP 12 112772598 112772598 single base substitution G C intron_variant LIRI-JP 12 112772807 112772807 single base substitution A G intron_variant LIRI-JP 12 112775709 112775709 single base substitution G A intron_variant LIRI-JP 12 112776643 112776643 single base substitution T G intron_variant LIRI-JP 12 112778580 112778580 single base substitution C A intron_variant LIRI-JP 12 112782017 112782017 single base substitution T C intron_variant LIRI-JP 12 112783418 112783418 single base substitution T C intron_variant LIRI-JP 12 112788776 112788776 single base substitution G A intron_variant LIRI-JP 12 112790976 112790976 single base substitution T C intron_variant LIRI-JP 12 112793058 112793058 single base substitution T C intron_variant LIRI-JP 12 112794359 112794359 single base substitution C T intron_variant LIRI-JP 12 112794642 112794642 single base substitution T C intron_variant LIRI-JP 12 112795749 112795749 single base substitution G A intron_variant LIRI-JP 12 112796723 112796723 single base substitution T C intron_variant LIRI-JP 12 112799419 112799419 single base substitution G T intron_variant LIRI-JP 12 112801041 112801041 single base substitution T C intron_variant LIRI-JP 12 112801978 112801978 single base substitution A T intron_variant LIRI-JP 12 112805247 112805247 single base substitution T C intron_variant LIRI-JP 12 112805775 112805775 single base substitution T C intron_variant LIRI-JP 12 112806035 112806035 single base substitution C T intron_variant LIRI-JP 12 112807000 112807000 single base substitution C T intron_variant LIRI-JP 12 112807132 112807132 single base substitution A G intron_variant LIRI-JP 12 112807835 112807835 single base substitution G A intron_variant LIRI-JP 12 112808116 112808116 single base substitution C A intron_variant LIRI-JP 12 112810435 112810435 single base substitution T C intron_variant LIRI-JP 12 112810465 112810465 single base substitution C A intron_variant LIRI-JP 12 112814079 112814079 single base substitution C A intron_variant LIRI-JP 12 112815132 112815132 single base substitution T C intron_variant LIRI-JP 12 112816646 112816646 single base substitution G C intron_variant LIRI-JP 12 112818445 112818445 single base substitution T C intron_variant LIRI-JP 12 112821095 112821095 single base substitution C G upstream_gene_variant LIRI-JP 12 112821878 112821878 single base substitution G A upstream_gene_variant LIRI-JP 12 112821973 112821973 single base substitution C G upstream_gene_variant LIRI-JP 12 112823291 112823291 single base substitution T C upstream_gene_variant LIRI-JP 12 112824719 112824719 single base substitution C T upstream_gene_variant LUSC-KR 12 112594858 112594858 single base substitution A G downstream_gene_variant LUSC-KR 12 112601371 112601371 single base substitution G C downstream_gene_variant LUSC-KR 12 112601371 112601371 single base substitution G C exon_variant LUSC-KR 12 112601371 112601371 single base substitution G C missense_variant P3869R 11606C>G LUSC-KR 12 112601371 112601371 single base substitution G C missense_variant P4119R 12356C>G LUSC-KR 12 112601371 112601371 single base substitution G C missense_variant P4145R 12434C>G LUSC-KR 12 112601371 112601371 single base substitution G C upstream_gene_variant LUSC-KR 12 112603813 112603813 single base substitution C A downstream_gene_variant LUSC-KR 12 112603813 112603813 single base substitution C A intron_variant LUSC-KR 12 112603813 112603813 single base substitution C A upstream_gene_variant LUSC-KR 12 112604686 112604686 single base substitution A G downstream_gene_variant LUSC-KR 12 112604686 112604686 single base substitution A G exon_variant LUSC-KR 12 112604686 112604686 single base substitution A G intron_variant LUSC-KR 12 112604686 112604686 single base substitution A G upstream_gene_variant LUSC-KR 12 112609070 112609070 single base substitution G C splice_region_variant LUSC-KR 12 112609070 112609070 single base substitution G C stop_gained S168* 503C>G LUSC-KR 12 112609070 112609070 single base substitution G C upstream_gene_variant LUSC-KR 12 112621385 112621385 single base substitution C G intron_variant LUSC-KR 12 112625961 112625961 single base substitution C G intron_variant LUSC-KR 12 112632798 112632798 single base substitution C T downstream_gene_variant LUSC-KR 12 112632798 112632798 single base substitution C T synonymous_variant P2458P 7374G>A LUSC-KR 12 112632798 112632798 single base substitution C T synonymous_variant P2708P 8124G>A LUSC-KR 12 112632798 112632798 single base substitution C T synonymous_variant P2734P 8202G>A LUSC-KR 12 112641377 112641377 single base substitution T G exon_variant LUSC-KR 12 112641377 112641377 single base substitution T G intron_variant LUSC-KR 12 112641377 112641377 single base substitution T G upstream_gene_variant LUSC-KR 12 112642360 112642360 single base substitution G A exon_variant LUSC-KR 12 112642360 112642360 single base substitution G A synonymous_variant D2311D 6933C>T LUSC-KR 12 112642360 112642360 single base substitution G A synonymous_variant D2561D 7683C>T LUSC-KR 12 112642360 112642360 single base substitution G A synonymous_variant D2587D 7761C>T LUSC-KR 12 112642360 112642360 single base substitution G A upstream_gene_variant LUSC-KR 12 112644924 112644924 single base substitution A G intron_variant LUSC-KR 12 112650383 112650383 single base substitution G T downstream_gene_variant LUSC-KR 12 112650383 112650383 single base substitution G T exon_variant LUSC-KR 12 112650383 112650383 single base substitution G T synonymous_variant R2091R 6271C>A LUSC-KR 12 112650383 112650383 single base substitution G T synonymous_variant R2341R 7021C>A LUSC-KR 12 112650383 112650383 single base substitution G T synonymous_variant R2367R 7099C>A LUSC-KR 12 112653881 112653881 single base substitution G A downstream_gene_variant LUSC-KR 12 112653881 112653881 single base substitution G A intron_variant LUSC-KR 12 112655101 112655101 single base substitution G A intron_variant LUSC-KR 12 112657913 112657913 single base substitution G A intron_variant LUSC-KR 12 112657913 112657913 single base substitution G A upstream_gene_variant LUSC-KR 12 112658588 112658588 single base substitution G A intron_variant LUSC-KR 12 112658588 112658588 single base substitution G A upstream_gene_variant LUSC-KR 12 112658880 112658880 single base substitution C A intron_variant LUSC-KR 12 112658880 112658880 single base substitution C A upstream_gene_variant LUSC-KR 12 112659087 112659087 single base substitution C G intron_variant LUSC-KR 12 112659087 112659087 single base substitution C G upstream_gene_variant LUSC-KR 12 112659302 112659302 single base substitution C G downstream_gene_variant LUSC-KR 12 112659302 112659302 single base substitution C G intron_variant LUSC-KR 12 112659302 112659302 single base substitution C G upstream_gene_variant LUSC-KR 12 112662305 112662305 single base substitution C A downstream_gene_variant LUSC-KR 12 112662305 112662305 single base substitution C A intron_variant LUSC-KR 12 112662305 112662305 single base substitution C A upstream_gene_variant LUSC-KR 12 112666256 112666256 single base substitution G A intron_variant LUSC-KR 12 112666256 112666256 single base substitution G A upstream_gene_variant LUSC-KR 12 112670529 112670529 single base substitution T C intron_variant LUSC-KR 12 112670529 112670529 single base substitution T C upstream_gene_variant LUSC-KR 12 112677646 112677646 single base substitution G T intron_variant LUSC-KR 12 112678098 112678098 single base substitution C T intron_variant LUSC-KR 12 112679819 112679819 single base substitution C T intron_variant LUSC-KR 12 112684546 112684546 single base substitution T C downstream_gene_variant LUSC-KR 12 112684546 112684546 single base substitution T C intron_variant LUSC-KR 12 112686933 112686933 single base substitution C T downstream_gene_variant LUSC-KR 12 112686933 112686933 single base substitution C T intron_variant LUSC-KR 12 112696995 112696995 single base substitution A G exon_variant LUSC-KR 12 112696995 112696995 single base substitution A G missense_variant M551T 1652T>C LUSC-KR 12 112696995 112696995 single base substitution A G missense_variant M801T 2402T>C LUSC-KR 12 112696995 112696995 single base substitution A G missense_variant M837T 2510T>C LUSC-KR 12 112697975 112697975 single base substitution T A intron_variant LUSC-KR 12 112700995 112700995 single base substitution A T downstream_gene_variant LUSC-KR 12 112700995 112700995 single base substitution A T intron_variant LUSC-KR 12 112700995 112700995 single base substitution A T upstream_gene_variant LUSC-KR 12 112707832 112707832 single base substitution T A intron_variant LUSC-KR 12 112721835 112721835 single base substitution C G intron_variant LUSC-KR 12 112728662 112728662 single base substitution C A intron_variant LUSC-KR 12 112734590 112734590 single base substitution T G intron_variant LUSC-KR 12 112734680 112734680 single base substitution A G intron_variant LUSC-KR 12 112734756 112734756 single base substitution T G intron_variant LUSC-KR 12 112738908 112738908 single base substitution T C intron_variant LUSC-KR 12 112749825 112749825 single base substitution T G intron_variant LUSC-KR 12 112756196 112756196 single base substitution A T intron_variant LUSC-KR 12 112756274 112756274 single base substitution G A intron_variant LUSC-KR 12 112761892 112761892 single base substitution T C intron_variant LUSC-KR 12 112763631 112763631 single base substitution C T intron_variant LUSC-KR 12 112763812 112763812 single base substitution C T intron_variant LUSC-KR 12 112764543 112764543 single base substitution C A intron_variant LUSC-KR 12 112771964 112771964 single base substitution G C intron_variant LUSC-KR 12 112776431 112776431 single base substitution G T intron_variant LUSC-KR 12 112778444 112778444 single base substitution G C intron_variant LUSC-KR 12 112778683 112778683 single base substitution C A intron_variant LUSC-KR 12 112785485 112785485 single base substitution A G intron_variant LUSC-KR 12 112790157 112790157 single base substitution G T intron_variant LUSC-KR 12 112793786 112793786 single base substitution C G intron_variant LUSC-KR 12 112806278 112806278 single base substitution G C intron_variant LUSC-KR 12 112807164 112807164 single base substitution G T intron_variant LUSC-KR 12 112807390 112807390 single base substitution C A intron_variant LUSC-KR 12 112815910 112815910 single base substitution G A intron_variant LUSC-KR 12 112823403 112823403 single base substitution C A upstream_gene_variant LUSC-KR 12 112823769 112823769 single base substitution G T upstream_gene_variant LUSC-KR 12 112823790 112823790 single base substitution G T upstream_gene_variant LUSC-KR 12 112824790 112824790 single base substitution C T upstream_gene_variant LUSC-US 12 112617177 112617177 single base substitution C G missense_variant R3249T 9746G>C LUSC-US 12 112617177 112617177 single base substitution C G missense_variant R3499T 10496G>C LUSC-US 12 112617177 112617177 single base substitution C G missense_variant R3525T 10574G>C LUSC-US 12 112617177 112617177 single base substitution C G upstream_gene_variant LUSC-US 12 112622092 112622092 single base substitution C T missense_variant E3138K 9412G>A LUSC-US 12 112622092 112622092 single base substitution C T missense_variant E3388K 10162G>A LUSC-US 12 112622092 112622092 single base substitution C T missense_variant E3414K 10240G>A LUSC-US 12 112622317 112622317 single base substitution C G missense_variant A3063P 9187G>C LUSC-US 12 112622317 112622317 single base substitution C G missense_variant A3313P 9937G>C LUSC-US 12 112622317 112622317 single base substitution C G missense_variant A3339P 10015G>C LUSC-US 12 112632695 112632695 single base substitution G A downstream_gene_variant LUSC-US 12 112632695 112632695 single base substitution G A missense_variant L2493F 7477C>T LUSC-US 12 112632695 112632695 single base substitution G A missense_variant L2743F 8227C>T LUSC-US 12 112632695 112632695 single base substitution G A missense_variant L2769F 8305C>T LUSC-US 12 112632708 112632708 single base substitution G A downstream_gene_variant LUSC-US 12 112632708 112632708 single base substitution G A synonymous_variant L2488L 7464C>T LUSC-US 12 112632708 112632708 single base substitution G A synonymous_variant L2738L 8214C>T LUSC-US 12 112632708 112632708 single base substitution G A synonymous_variant L2764L 8292C>T LUSC-US 12 112654880 112654880 single base substitution G A exon_variant LUSC-US 12 112654880 112654880 single base substitution G A synonymous_variant P1976P 5928C>T LUSC-US 12 112654880 112654880 single base substitution G A synonymous_variant P2226P 6678C>T LUSC-US 12 112654880 112654880 single base substitution G A synonymous_variant P2252P 6756C>T LUSC-US 12 112666057 112666057 single base substitution C T exon_variant LUSC-US 12 112666057 112666057 single base substitution C T synonymous_variant L1808L 5424G>A LUSC-US 12 112666057 112666057 single base substitution C T synonymous_variant L2058L 6174G>A LUSC-US 12 112666057 112666057 single base substitution C T synonymous_variant L2084L 6252G>A LUSC-US 12 112666057 112666057 single base substitution C T upstream_gene_variant LUSC-US 12 112667515 112667515 single base substitution C T exon_variant LUSC-US 12 112667515 112667515 single base substitution C T missense_variant G1747E 5240G>A LUSC-US 12 112667515 112667515 single base substitution C T missense_variant G1997E 5990G>A LUSC-US 12 112667515 112667515 single base substitution C T missense_variant G2023E 6068G>A LUSC-US 12 112667515 112667515 single base substitution C T upstream_gene_variant LUSC-US 12 112669453 112669453 single base substitution G A stop_gained Q1600* 4798C>T LUSC-US 12 112669453 112669453 single base substitution G A stop_gained Q1850* 5548C>T LUSC-US 12 112669453 112669453 single base substitution G A stop_gained Q1876* 5626C>T LUSC-US 12 112669453 112669453 single base substitution G A upstream_gene_variant LUSC-US 12 112670832 112670832 single base substitution C T synonymous_variant V1569V 4707G>A LUSC-US 12 112670832 112670832 single base substitution C T synonymous_variant V1819V 5457G>A LUSC-US 12 112670832 112670832 single base substitution C T synonymous_variant V1845V 5535G>A LUSC-US 12 112670832 112670832 single base substitution C T upstream_gene_variant LUSC-US 12 112672921 112672921 single base substitution C T missense_variant E1537K 4609G>A LUSC-US 12 112672921 112672921 single base substitution C T missense_variant E1787K 5359G>A LUSC-US 12 112672921 112672921 single base substitution C T missense_variant E1813K 5437G>A LUSC-US 12 112672921 112672921 single base substitution C T upstream_gene_variant LUSC-US 12 112673472 112673472 single base substitution C T missense_variant R1432Q 4295G>A LUSC-US 12 112673472 112673472 single base substitution C T missense_variant R1682Q 5045G>A LUSC-US 12 112673472 112673472 single base substitution C T missense_variant R1708Q 5123G>A LUSC-US 12 112673472 112673472 single base substitution C T upstream_gene_variant LUSC-US 12 112685957 112685957 single base substitution G A downstream_gene_variant LUSC-US 12 112685957 112685957 single base substitution G A stop_gained Q1216* 3646C>T LUSC-US 12 112685957 112685957 single base substitution G A stop_gained Q1242* 3724C>T LUSC-US 12 112685957 112685957 single base substitution G A stop_gained Q966* 2896C>T LUSC-US 12 112686205 112686205 single base substitution T C downstream_gene_variant LUSC-US 12 112686205 112686205 single base substitution T C synonymous_variant E1182E 3546A>G LUSC-US 12 112686205 112686205 single base substitution T C synonymous_variant E1208E 3624A>G LUSC-US 12 112686205 112686205 single base substitution T C synonymous_variant E932E 2796A>G LUSC-US 12 112687950 112687950 single base substitution T C exon_variant LUSC-US 12 112687950 112687950 single base substitution T C missense_variant I1144M 3432A>G LUSC-US 12 112687950 112687950 single base substitution T C missense_variant I1170M 3510A>G LUSC-US 12 112687950 112687950 single base substitution T C missense_variant I894M 2682A>G LUSC-US 12 112688130 112688130 single base substitution C A exon_variant LUSC-US 12 112688130 112688130 single base substitution C A synonymous_variant P1084P 3252G>T LUSC-US 12 112688130 112688130 single base substitution C A synonymous_variant P1110P 3330G>T LUSC-US 12 112688130 112688130 single base substitution C A synonymous_variant P834P 2502G>T LUSC-US 12 112694272 112694272 single base substitution G T downstream_gene_variant LUSC-US 12 112694272 112694272 single base substitution G T exon_variant LUSC-US 12 112694272 112694272 single base substitution G T missense_variant P628H 1883C>A LUSC-US 12 112694272 112694272 single base substitution G T missense_variant P878H 2633C>A LUSC-US 12 112694272 112694272 single base substitution G T missense_variant P914H 2741C>A LUSC-US 12 112743916 112743916 single base substitution C A intron_variant LUSC-US 12 112743916 112743916 single base substitution C A missense_variant E285D 855G>T LUSC-US 12 112743916 112743916 single base substitution C A missense_variant E35D 105G>T MALY-DE 12 112599065 112599065 single base substitution G C 3_prime_UTR_variant MALY-DE 12 112599065 112599065 single base substitution G C downstream_gene_variant MALY-DE 12 112599065 112599065 single base substitution G C intron_variant MALY-DE 12 112599065 112599065 single base substitution G C upstream_gene_variant MALY-DE 12 112601294 112601294 single base substitution G A downstream_gene_variant MALY-DE 12 112601294 112601294 single base substitution G A intron_variant MALY-DE 12 112601294 112601294 single base substitution G A upstream_gene_variant MALY-DE 12 112609259 112609259 deletion of <=200bp G - intron_variant MALY-DE 12 112609259 112609259 deletion of <=200bp G - upstream_gene_variant MALY-DE 12 112610174 112610174 single base substitution C T intron_variant MALY-DE 12 112610174 112610174 single base substitution C T upstream_gene_variant MALY-DE 12 112616786 112616786 single base substitution C T missense_variant R3349Q 10046G>A MALY-DE 12 112616786 112616786 single base substitution C T missense_variant R3599Q 10796G>A MALY-DE 12 112616786 112616786 single base substitution C T missense_variant R3625Q 10874G>A MALY-DE 12 112616786 112616786 single base substitution C T upstream_gene_variant MALY-DE 12 112648124 112648124 single base substitution G C intron_variant MALY-DE 12 112653075 112653075 single base substitution C T downstream_gene_variant MALY-DE 12 112653075 112653075 single base substitution C T intron_variant MALY-DE 12 112654696 112654696 single base substitution G T exon_variant MALY-DE 12 112654696 112654696 single base substitution G T synonymous_variant I2000I 6000C>A MALY-DE 12 112654696 112654696 single base substitution G T synonymous_variant I2250I 6750C>A MALY-DE 12 112654696 112654696 single base substitution G T synonymous_variant I2276I 6828C>A MALY-DE 12 112663436 112663436 single base substitution A G downstream_gene_variant MALY-DE 12 112663436 112663436 single base substitution A G intron_variant MALY-DE 12 112666826 112666826 single base substitution C T intron_variant MALY-DE 12 112666826 112666826 single base substitution C T upstream_gene_variant MALY-DE 12 112668397 112668397 single base substitution T G intron_variant MALY-DE 12 112668397 112668397 single base substitution T G upstream_gene_variant MALY-DE 12 112672482 112672482 single base substitution C A intron_variant MALY-DE 12 112672482 112672482 single base substitution C A upstream_gene_variant MALY-DE 12 112674605 112674605 single base substitution C T intron_variant MALY-DE 12 112685021 112685021 single base substitution G T downstream_gene_variant MALY-DE 12 112685021 112685021 single base substitution G T intron_variant MALY-DE 12 112688370 112688370 insertion of <=200bp - C intron_variant MALY-DE 12 112691012 112691012 single base substitution T C intron_variant MALY-DE 12 112691090 112691090 single base substitution G A intron_variant MALY-DE 12 112693369 112693369 single base substitution C T downstream_gene_variant MALY-DE 12 112693369 112693369 single base substitution C T intron_variant MALY-DE 12 112696781 112696781 single base substitution C A intron_variant MALY-DE 12 112698694 112698694 single base substitution G T intron_variant MALY-DE 12 112705475 112705475 single base substitution T C intron_variant MALY-DE 12 112708239 112708239 single base substitution A G exon_variant MALY-DE 12 112708239 112708239 single base substitution A G intron_variant MALY-DE 12 112708239 112708239 single base substitution A G missense_variant V224A 671T>C MALY-DE 12 112708239 112708239 single base substitution A G missense_variant V474A 1421T>C MALY-DE 12 112708239 112708239 single base substitution A G missense_variant V512A 1535T>C MALY-DE 12 112713424 112713425 deletion of <=200bp AT - intron_variant MALY-DE 12 112713424 112713425 deletion of <=200bp AT - upstream_gene_variant MALY-DE 12 112714737 112714737 deletion of <=200bp A - intron_variant MALY-DE 12 112714737 112714737 deletion of <=200bp A - upstream_gene_variant MALY-DE 12 112715267 112715267 single base substitution G C intron_variant MALY-DE 12 112715267 112715267 single base substitution G C upstream_gene_variant MALY-DE 12 112716667 112716667 single base substitution A T intron_variant MALY-DE 12 112716703 112716703 single base substitution A G intron_variant MALY-DE 12 112716726 112716726 single base substitution G C intron_variant MALY-DE 12 112725768 112725768 single base substitution C T intron_variant MALY-DE 12 112731705 112731705 single base substitution C A intron_variant MALY-DE 12 112733616 112733616 single base substitution T A intron_variant MALY-DE 12 112739512 112739512 single base substitution G A intron_variant MALY-DE 12 112740508 112740508 single base substitution A T intron_variant MALY-DE 12 112745015 112745015 single base substitution G C intron_variant MALY-DE 12 112752052 112752052 single base substitution T C intron_variant MALY-DE 12 112762268 112762268 single base substitution G C intron_variant MALY-DE 12 112771410 112771410 single base substitution G T intron_variant MALY-DE 12 112773818 112773818 deletion of <=200bp A - intron_variant MALY-DE 12 112774872 112774872 single base substitution T C intron_variant MALY-DE 12 112775570 112775570 single base substitution T G intron_variant MALY-DE 12 112796185 112796185 single base substitution C T intron_variant MALY-DE 12 112796449 112796449 single base substitution G A intron_variant MALY-DE 12 112820585 112820585 single base substitution G A upstream_gene_variant MALY-DE 12 112823738 112823738 single base substitution C T upstream_gene_variant MELA-AU 12 112594636 112594636 single base substitution C T downstream_gene_variant MELA-AU 12 112595736 112595736 single base substitution C T downstream_gene_variant MELA-AU 12 112596180 112596180 single base substitution T C downstream_gene_variant MELA-AU 12 112597205 112597205 single base substitution T C downstream_gene_variant MELA-AU 12 112597261 112597261 single base substitution C T downstream_gene_variant MELA-AU 12 112599575 112599575 single base substitution G A 3_prime_UTR_variant MELA-AU 12 112599575 112599575 single base substitution G A downstream_gene_variant MELA-AU 12 112599575 112599575 single base substitution G A intron_variant MELA-AU 12 112599575 112599575 single base substitution G A upstream_gene_variant MELA-AU 12 112600789 112600789 single base substitution C T downstream_gene_variant MELA-AU 12 112600789 112600789 single base substitution C T exon_variant MELA-AU 12 112600789 112600789 single base substitution C T intron_variant MELA-AU 12 112600789 112600789 single base substitution C T upstream_gene_variant MELA-AU 12 112600802 112600802 single base substitution G T downstream_gene_variant MELA-AU 12 112600802 112600802 single base substitution G T exon_variant MELA-AU 12 112600802 112600802 single base substitution G T intron_variant MELA-AU 12 112600802 112600802 single base substitution G T upstream_gene_variant MELA-AU 12 112601554 112601554 single base substitution G A downstream_gene_variant MELA-AU 12 112601554 112601554 single base substitution G A intron_variant MELA-AU 12 112601554 112601554 single base substitution G A upstream_gene_variant MELA-AU 12 112601581 112601581 single base substitution G A downstream_gene_variant MELA-AU 12 112601581 112601581 single base substitution G A intron_variant MELA-AU 12 112601581 112601581 single base substitution G A upstream_gene_variant MELA-AU 12 112601590 112601590 single base substitution G A downstream_gene_variant MELA-AU 12 112601590 112601590 single base substitution G A intron_variant MELA-AU 12 112601590 112601590 single base substitution G A upstream_gene_variant MELA-AU 12 112603505 112603505 single base substitution G A downstream_gene_variant MELA-AU 12 112603505 112603505 single base substitution G A intron_variant MELA-AU 12 112603505 112603505 single base substitution G A upstream_gene_variant MELA-AU 12 112603607 112603607 single base substitution G A downstream_gene_variant MELA-AU 12 112603607 112603607 single base substitution G A intron_variant MELA-AU 12 112603607 112603607 single base substitution G A upstream_gene_variant MELA-AU 12 112603618 112603618 single base substitution C T downstream_gene_variant MELA-AU 12 112603618 112603618 single base substitution C T intron_variant MELA-AU 12 112603618 112603618 single base substitution C T upstream_gene_variant MELA-AU 12 112603631 112603631 single base substitution C T downstream_gene_variant MELA-AU 12 112603631 112603631 single base substitution C T intron_variant MELA-AU 12 112603631 112603631 single base substitution C T upstream_gene_variant MELA-AU 12 112603646 112603646 single base substitution G A downstream_gene_variant MELA-AU 12 112603646 112603646 single base substitution G A intron_variant MELA-AU 12 112603646 112603646 single base substitution G A upstream_gene_variant MELA-AU 12 112603811 112603840 deletion of <=200bp CCCACAACACCATGTGGTTCTGCATCCCAT - downstream_gene_variant MELA-AU 12 112603811 112603840 deletion of <=200bp CCCACAACACCATGTGGTTCTGCATCCCAT - intron_variant MELA-AU 12 112603811 112603840 deletion of <=200bp CCCACAACACCATGTGGTTCTGCATCCCAT - upstream_gene_variant MELA-AU 12 112604416 112604416 single base substitution C T downstream_gene_variant MELA-AU 12 112604416 112604416 single base substitution C T exon_variant MELA-AU 12 112604416 112604416 single base substitution C T intron_variant MELA-AU 12 112604416 112604416 single base substitution C T upstream_gene_variant MELA-AU 12 112604447 112604447 single base substitution G A downstream_gene_variant MELA-AU 12 112604447 112604447 single base substitution G A exon_variant MELA-AU 12 112604447 112604447 single base substitution G A intron_variant MELA-AU 12 112604447 112604447 single base substitution G A upstream_gene_variant MELA-AU 12 112604479 112604479 single base substitution G A downstream_gene_variant MELA-AU 12 112604479 112604479 single base substitution G A exon_variant MELA-AU 12 112604479 112604479 single base substitution G A intron_variant MELA-AU 12 112604479 112604479 single base substitution G A upstream_gene_variant MELA-AU 12 112604509 112604509 single base substitution G A downstream_gene_variant MELA-AU 12 112604509 112604509 single base substitution G A exon_variant MELA-AU 12 112604509 112604509 single base substitution G A intron_variant MELA-AU 12 112604509 112604509 single base substitution G A upstream_gene_variant MELA-AU 12 112604518 112604518 single base substitution G A downstream_gene_variant MELA-AU 12 112604518 112604518 single base substitution G A exon_variant MELA-AU 12 112604518 112604518 single base substitution G A intron_variant MELA-AU 12 112604518 112604518 single base substitution G A upstream_gene_variant MELA-AU 12 112604579 112604579 single base substitution C T downstream_gene_variant MELA-AU 12 112604579 112604579 single base substitution C T exon_variant MELA-AU 12 112604579 112604579 single base substitution C T intron_variant MELA-AU 12 112604579 112604579 single base substitution C T upstream_gene_variant MELA-AU 12 112604798 112604798 single base substitution C T downstream_gene_variant MELA-AU 12 112604798 112604798 single base substitution C T exon_variant MELA-AU 12 112604798 112604798 single base substitution C T intron_variant MELA-AU 12 112604798 112604798 single base substitution C T upstream_gene_variant MELA-AU 12 112604842 112604842 single base substitution G A downstream_gene_variant MELA-AU 12 112604842 112604842 single base substitution G A exon_variant MELA-AU 12 112604842 112604842 single base substitution G A intron_variant MELA-AU 12 112604842 112604842 single base substitution G A upstream_gene_variant MELA-AU 12 112604885 112604885 single base substitution G A downstream_gene_variant MELA-AU 12 112604885 112604885 single base substitution G A exon_variant MELA-AU 12 112604885 112604885 single base substitution G A intron_variant MELA-AU 12 112604885 112604885 single base substitution G A upstream_gene_variant MELA-AU 12 112605034 112605034 single base substitution G A downstream_gene_variant MELA-AU 12 112605034 112605034 single base substitution G A exon_variant MELA-AU 12 112605034 112605034 single base substitution G A intron_variant MELA-AU 12 112605034 112605034 single base substitution G A upstream_gene_variant MELA-AU 12 112605735 112605735 single base substitution G A downstream_gene_variant MELA-AU 12 112605735 112605735 single base substitution G A intron_variant MELA-AU 12 112605735 112605735 single base substitution G A upstream_gene_variant MELA-AU 12 112605792 112605792 single base substitution A C downstream_gene_variant MELA-AU 12 112605792 112605792 single base substitution A C intron_variant MELA-AU 12 112605792 112605792 single base substitution A C upstream_gene_variant MELA-AU 12 112605804 112605804 single base substitution G A downstream_gene_variant MELA-AU 12 112605804 112605804 single base substitution G A intron_variant MELA-AU 12 112605804 112605804 single base substitution G A upstream_gene_variant MELA-AU 12 112605824 112605824 single base substitution G A downstream_gene_variant MELA-AU 12 112605824 112605824 single base substitution G A intron_variant MELA-AU 12 112605824 112605824 single base substitution G A upstream_gene_variant MELA-AU 12 112606011 112606011 single base substitution G A downstream_gene_variant MELA-AU 12 112606011 112606011 single base substitution G A intron_variant MELA-AU 12 112606011 112606011 single base substitution G A upstream_gene_variant MELA-AU 12 112606724 112606724 single base substitution G A downstream_gene_variant MELA-AU 12 112606724 112606724 single base substitution G A intron_variant MELA-AU 12 112606724 112606724 single base substitution G A upstream_gene_variant MELA-AU 12 112607811 112607811 single base substitution G A downstream_gene_variant MELA-AU 12 112607811 112607811 single base substitution G A exon_variant MELA-AU 12 112607811 112607811 single base substitution G A intron_variant MELA-AU 12 112607811 112607811 single base substitution G A upstream_gene_variant MELA-AU 12 112608019 112608019 single base substitution G A downstream_gene_variant MELA-AU 12 112608019 112608019 single base substitution G A intron_variant MELA-AU 12 112608019 112608019 single base substitution G A upstream_gene_variant MELA-AU 12 112608031 112608031 single base substitution G A downstream_gene_variant MELA-AU 12 112608031 112608031 single base substitution G A intron_variant MELA-AU 12 112608031 112608031 single base substitution G A upstream_gene_variant MELA-AU 12 112608825 112608826 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 112608825 112608826 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant PR249PC MELA-AU 12 112608825 112608826 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 12 112608981 112608981 single base substitution C T missense_variant E198K 592G>A MELA-AU 12 112608981 112608981 single base substitution C T missense_variant E3536K 10606G>A MELA-AU 12 112608981 112608981 single base substitution C T missense_variant E3786K 11356G>A MELA-AU 12 112608981 112608981 single base substitution C T missense_variant E3812K 11434G>A MELA-AU 12 112608981 112608981 single base substitution C T upstream_gene_variant MELA-AU 12 112609057 112609057 single base substitution G A synonymous_variant I172I 516C>T MELA-AU 12 112609057 112609057 single base substitution G A synonymous_variant I3510I 10530C>T MELA-AU 12 112609057 112609057 single base substitution G A synonymous_variant I3760I 11280C>T MELA-AU 12 112609057 112609057 single base substitution G A synonymous_variant I3786I 11358C>T MELA-AU 12 112609057 112609057 single base substitution G A upstream_gene_variant MELA-AU 12 112609158 112609158 single base substitution A T intron_variant MELA-AU 12 112609158 112609158 single base substitution A T upstream_gene_variant MELA-AU 12 112609730 112609730 single base substitution G A intron_variant MELA-AU 12 112609730 112609730 single base substitution G A upstream_gene_variant MELA-AU 12 112610102 112610102 single base substitution G A intron_variant MELA-AU 12 112610102 112610102 single base substitution G A upstream_gene_variant MELA-AU 12 112612050 112612050 single base substitution G A intron_variant MELA-AU 12 112612050 112612050 single base substitution G A upstream_gene_variant MELA-AU 12 112612640 112612640 single base substitution C T intron_variant MELA-AU 12 112612640 112612640 single base substitution C T upstream_gene_variant MELA-AU 12 112612693 112612693 single base substitution G A intron_variant MELA-AU 12 112612693 112612693 single base substitution G A upstream_gene_variant MELA-AU 12 112612709 112612709 single base substitution G A intron_variant MELA-AU 12 112612709 112612709 single base substitution G A upstream_gene_variant MELA-AU 12 112612866 112612866 single base substitution G A intron_variant MELA-AU 12 112612866 112612866 single base substitution G A upstream_gene_variant MELA-AU 12 112613340 112613340 single base substitution G A intron_variant MELA-AU 12 112615506 112615506 single base substitution G A intron_variant MELA-AU 12 112615506 112615506 single base substitution G A upstream_gene_variant MELA-AU 12 112616183 112616183 single base substitution G A intron_variant MELA-AU 12 112616183 112616183 single base substitution G A upstream_gene_variant MELA-AU 12 112616216 112616216 single base substitution T A intron_variant MELA-AU 12 112616216 112616216 single base substitution T A upstream_gene_variant MELA-AU 12 112616337 112616337 single base substitution A T intron_variant MELA-AU 12 112616337 112616337 single base substitution A T upstream_gene_variant MELA-AU 12 112616865 112616865 single base substitution G A missense_variant P3323S 9967C>T MELA-AU 12 112616865 112616865 single base substitution G A missense_variant P3573S 10717C>T MELA-AU 12 112616865 112616865 single base substitution G A missense_variant P3599S 10795C>T MELA-AU 12 112616865 112616865 single base substitution G A upstream_gene_variant MELA-AU 12 112616964 112616964 single base substitution G A intron_variant MELA-AU 12 112616964 112616964 single base substitution G A upstream_gene_variant MELA-AU 12 112617012 112617012 single base substitution G A missense_variant P3304L 9911C>T MELA-AU 12 112617012 112617012 single base substitution G A missense_variant P3554L 10661C>T MELA-AU 12 112617012 112617012 single base substitution G A missense_variant P3580L 10739C>T MELA-AU 12 112617012 112617012 single base substitution G A upstream_gene_variant MELA-AU 12 112617199 112617199 single base substitution C T missense_variant E3242K 9724G>A MELA-AU 12 112617199 112617199 single base substitution C T missense_variant E3492K 10474G>A MELA-AU 12 112617199 112617199 single base substitution C T missense_variant E3518K 10552G>A MELA-AU 12 112617199 112617199 single base substitution C T upstream_gene_variant MELA-AU 12 112617638 112617638 single base substitution T G intron_variant MELA-AU 12 112617638 112617638 single base substitution T G upstream_gene_variant MELA-AU 12 112617927 112617927 single base substitution C T intron_variant MELA-AU 12 112617927 112617927 single base substitution C T upstream_gene_variant MELA-AU 12 112618368 112618368 single base substitution G A intron_variant MELA-AU 12 112618368 112618368 single base substitution G A upstream_gene_variant MELA-AU 12 112618374 112618374 single base substitution A G intron_variant MELA-AU 12 112618374 112618374 single base substitution A G upstream_gene_variant MELA-AU 12 112618466 112618466 single base substitution G A intron_variant MELA-AU 12 112618466 112618466 single base substitution G A upstream_gene_variant MELA-AU 12 112618536 112618536 single base substitution G A intron_variant MELA-AU 12 112618536 112618536 single base substitution G A upstream_gene_variant MELA-AU 12 112618646 112618646 single base substitution A G intron_variant MELA-AU 12 112618646 112618646 single base substitution A G upstream_gene_variant MELA-AU 12 112618649 112618649 single base substitution G A intron_variant MELA-AU 12 112618649 112618649 single base substitution G A upstream_gene_variant MELA-AU 12 112618857 112618857 single base substitution G A intron_variant MELA-AU 12 112618857 112618857 single base substitution G A upstream_gene_variant MELA-AU 12 112619162 112619162 single base substitution T C intron_variant MELA-AU 12 112619162 112619162 single base substitution T C upstream_gene_variant MELA-AU 12 112620141 112620141 single base substitution G A intron_variant MELA-AU 12 112620429 112620429 single base substitution G A intron_variant MELA-AU 12 112621875 112621875 single base substitution G A intron_variant MELA-AU 12 112622260 112622260 single base substitution C T missense_variant V3082I 9244G>A MELA-AU 12 112622260 112622260 single base substitution C T missense_variant V3332I 9994G>A MELA-AU 12 112622260 112622260 single base substitution C T missense_variant V3358I 10072G>A MELA-AU 12 112622479 112622479 single base substitution C T missense_variant E3009K 9025G>A MELA-AU 12 112622479 112622479 single base substitution C T missense_variant E3259K 9775G>A MELA-AU 12 112622479 112622479 single base substitution C T missense_variant E3285K 9853G>A MELA-AU 12 112622552 112622552 single base substitution G A synonymous_variant T2984T 8952C>T MELA-AU 12 112622552 112622552 single base substitution G A synonymous_variant T3234T 9702C>T MELA-AU 12 112622552 112622552 single base substitution G A synonymous_variant T3260T 9780C>T MELA-AU 12 112622558 112622558 single base substitution G A synonymous_variant I2982I 8946C>T MELA-AU 12 112622558 112622558 single base substitution G A synonymous_variant I3232I 9696C>T MELA-AU 12 112622558 112622558 single base substitution G A synonymous_variant I3258I 9774C>T MELA-AU 12 112624775 112624775 single base substitution G A intron_variant MELA-AU 12 112624825 112624825 single base substitution C T intron_variant MELA-AU 12 112624946 112624946 single base substitution G A intron_variant MELA-AU 12 112625097 112625097 single base substitution G A intron_variant MELA-AU 12 112625381 112625381 single base substitution G A intron_variant MELA-AU 12 112626741 112626741 single base substitution G A intron_variant MELA-AU 12 112627144 112627144 single base substitution C T intron_variant MELA-AU 12 112627477 112627477 single base substitution C T intron_variant MELA-AU 12 112627580 112627580 single base substitution G A intron_variant MELA-AU 12 112627823 112627823 single base substitution G A downstream_gene_variant MELA-AU 12 112627823 112627823 single base substitution G A intron_variant MELA-AU 12 112628397 112628397 single base substitution G A downstream_gene_variant MELA-AU 12 112628397 112628397 single base substitution G A intron_variant MELA-AU 12 112628575 112628576 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 12 112628575 112628576 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 112628730 112628730 single base substitution G A downstream_gene_variant MELA-AU 12 112628730 112628730 single base substitution G A missense_variant S2689F 8066C>T MELA-AU 12 112628730 112628730 single base substitution G A missense_variant S2939F 8816C>T MELA-AU 12 112628730 112628730 single base substitution G A missense_variant S2965F 8894C>T MELA-AU 12 112628732 112628732 single base substitution A G downstream_gene_variant MELA-AU 12 112628732 112628732 single base substitution A G synonymous_variant H2688H 8064T>C MELA-AU 12 112628732 112628732 single base substitution A G synonymous_variant H2938H 8814T>C MELA-AU 12 112628732 112628732 single base substitution A G synonymous_variant H2964H 8892T>C MELA-AU 12 112628755 112628755 single base substitution G A downstream_gene_variant MELA-AU 12 112628755 112628755 single base substitution G A missense_variant P2681S 8041C>T MELA-AU 12 112628755 112628755 single base substitution G A missense_variant P2931S 8791C>T MELA-AU 12 112628755 112628755 single base substitution G A missense_variant P2957S 8869C>T MELA-AU 12 112629029 112629029 single base substitution G A downstream_gene_variant MELA-AU 12 112629029 112629029 single base substitution G A intron_variant MELA-AU 12 112629798 112629798 single base substitution G A downstream_gene_variant MELA-AU 12 112629798 112629798 single base substitution G A intron_variant MELA-AU 12 112630179 112630179 single base substitution G C downstream_gene_variant MELA-AU 12 112630179 112630179 single base substitution G C intron_variant MELA-AU 12 112630261 112630261 single base substitution G A downstream_gene_variant MELA-AU 12 112630261 112630261 single base substitution G A intron_variant MELA-AU 12 112630290 112630290 single base substitution T G downstream_gene_variant MELA-AU 12 112630290 112630290 single base substitution T G intron_variant MELA-AU 12 112630845 112630845 single base substitution C T downstream_gene_variant MELA-AU 12 112630845 112630845 single base substitution C T intron_variant MELA-AU 12 112631157 112631157 single base substitution G A downstream_gene_variant MELA-AU 12 112631157 112631157 single base substitution G A intron_variant MELA-AU 12 112631186 112631186 single base substitution G A downstream_gene_variant MELA-AU 12 112631186 112631186 single base substitution G A intron_variant MELA-AU 12 112631190 112631191 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 12 112631190 112631191 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 112632047 112632047 single base substitution G A downstream_gene_variant MELA-AU 12 112632047 112632047 single base substitution G A intron_variant MELA-AU 12 112632878 112632878 single base substitution G A intron_variant MELA-AU 12 112632878 112632878 single base substitution G A splice_region_variant MELA-AU 12 112633218 112633218 single base substitution T C intron_variant MELA-AU 12 112633354 112633354 single base substitution G A intron_variant MELA-AU 12 112634110 112634110 single base substitution G A intron_variant MELA-AU 12 112634690 112634690 single base substitution C T intron_variant MELA-AU 12 112634731 112634731 single base substitution C T intron_variant MELA-AU 12 112634735 112634735 single base substitution G A intron_variant MELA-AU 12 112634822 112634822 single base substitution A G intron_variant MELA-AU 12 112635872 112635872 single base substitution C T downstream_gene_variant MELA-AU 12 112635872 112635872 single base substitution C T intron_variant MELA-AU 12 112636426 112636426 single base substitution G A downstream_gene_variant MELA-AU 12 112636426 112636426 single base substitution G A intron_variant MELA-AU 12 112636528 112636528 single base substitution G A downstream_gene_variant MELA-AU 12 112636528 112636528 single base substitution G A intron_variant MELA-AU 12 112636838 112636838 single base substitution C T downstream_gene_variant MELA-AU 12 112636838 112636838 single base substitution C T intron_variant MELA-AU 12 112637345 112637345 single base substitution G A downstream_gene_variant MELA-AU 12 112637345 112637345 single base substitution G A intron_variant MELA-AU 12 112637433 112637434 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 12 112637433 112637434 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 112637459 112637459 single base substitution G A downstream_gene_variant MELA-AU 12 112637459 112637459 single base substitution G A intron_variant MELA-AU 12 112638343 112638343 single base substitution G A downstream_gene_variant MELA-AU 12 112638343 112638343 single base substitution G A intron_variant MELA-AU 12 112638521 112638522 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 12 112638521 112638522 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 12 112638521 112638522 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant LE2407LK MELA-AU 12 112638521 112638522 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant LE2657LK MELA-AU 12 112638521 112638522 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant LE2683LK MELA-AU 12 112638921 112638922 multiple base substitution (>=2bp and <=200bp) GG AT downstream_gene_variant MELA-AU 12 112638921 112638922 multiple base substitution (>=2bp and <=200bp) GG AT intron_variant MELA-AU 12 112638946 112638946 single base substitution G A downstream_gene_variant MELA-AU 12 112638946 112638946 single base substitution G A exon_variant MELA-AU 12 112638946 112638946 single base substitution G A intron_variant MELA-AU 12 112639712 112639712 single base substitution C T downstream_gene_variant MELA-AU 12 112639712 112639712 single base substitution C T intron_variant MELA-AU 12 112639712 112639712 single base substitution C T upstream_gene_variant MELA-AU 12 112639762 112639762 single base substitution G A downstream_gene_variant MELA-AU 12 112639762 112639762 single base substitution G A intron_variant MELA-AU 12 112639762 112639762 single base substitution G A upstream_gene_variant MELA-AU 12 112639872 112639872 single base substitution C T downstream_gene_variant MELA-AU 12 112639872 112639872 single base substitution C T intron_variant MELA-AU 12 112639872 112639872 single base substitution C T upstream_gene_variant MELA-AU 12 112640068 112640068 single base substitution G A downstream_gene_variant MELA-AU 12 112640068 112640068 single base substitution G A intron_variant MELA-AU 12 112640068 112640068 single base substitution G A upstream_gene_variant MELA-AU 12 112640331 112640331 single base substitution G A downstream_gene_variant MELA-AU 12 112640331 112640331 single base substitution G A intron_variant MELA-AU 12 112640331 112640331 single base substitution G A upstream_gene_variant MELA-AU 12 112640352 112640352 single base substitution G A downstream_gene_variant MELA-AU 12 112640352 112640352 single base substitution G A intron_variant MELA-AU 12 112640352 112640352 single base substitution G A upstream_gene_variant MELA-AU 12 112640451 112640451 single base substitution G A downstream_gene_variant MELA-AU 12 112640451 112640451 single base substitution G A intron_variant MELA-AU 12 112640451 112640451 single base substitution G A upstream_gene_variant MELA-AU 12 112640733 112640733 single base substitution G A downstream_gene_variant MELA-AU 12 112640733 112640733 single base substitution G A intron_variant MELA-AU 12 112640733 112640733 single base substitution G A upstream_gene_variant MELA-AU 12 112641981 112641981 single base substitution G A intron_variant MELA-AU 12 112641981 112641981 single base substitution G A upstream_gene_variant MELA-AU 12 112642177 112642177 single base substitution G A intron_variant MELA-AU 12 112642177 112642177 single base substitution G A upstream_gene_variant MELA-AU 12 112642229 112642229 single base substitution G A intron_variant MELA-AU 12 112642229 112642229 single base substitution G A upstream_gene_variant MELA-AU 12 112642312 112642312 single base substitution G A exon_variant MELA-AU 12 112642312 112642312 single base substitution G A synonymous_variant F2327F 6981C>T MELA-AU 12 112642312 112642312 single base substitution G A synonymous_variant F2577F 7731C>T MELA-AU 12 112642312 112642312 single base substitution G A synonymous_variant F2603F 7809C>T MELA-AU 12 112642312 112642312 single base substitution G A upstream_gene_variant MELA-AU 12 112642350 112642350 single base substitution G A exon_variant MELA-AU 12 112642350 112642350 single base substitution G A missense_variant P2315S 6943C>T MELA-AU 12 112642350 112642350 single base substitution G A missense_variant P2565S 7693C>T MELA-AU 12 112642350 112642350 single base substitution G A missense_variant P2591S 7771C>T MELA-AU 12 112642350 112642350 single base substitution G A upstream_gene_variant MELA-AU 12 112642463 112642463 single base substitution G A intron_variant MELA-AU 12 112642463 112642463 single base substitution G A upstream_gene_variant MELA-AU 12 112643908 112643909 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 112643908 112643909 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 12 112643926 112643926 single base substitution G A intron_variant MELA-AU 12 112643926 112643926 single base substitution G A upstream_gene_variant MELA-AU 12 112644920 112644920 single base substitution G A intron_variant MELA-AU 12 112646014 112646014 single base substitution G A intron_variant MELA-AU 12 112646107 112646107 single base substitution G A intron_variant MELA-AU 12 112646400 112646400 single base substitution G A exon_variant MELA-AU 12 112646400 112646400 single base substitution G A synonymous_variant V2212V 6636C>T MELA-AU 12 112646400 112646400 single base substitution G A synonymous_variant V2462V 7386C>T MELA-AU 12 112646400 112646400 single base substitution G A synonymous_variant V2488V 7464C>T MELA-AU 12 112646546 112646546 single base substitution C T intron_variant MELA-AU 12 112647326 112647326 single base substitution C T intron_variant MELA-AU 12 112647613 112647613 single base substitution G A intron_variant MELA-AU 12 112647789 112647789 single base substitution G A intron_variant MELA-AU 12 112648065 112648065 single base substitution G A intron_variant MELA-AU 12 112648565 112648565 single base substitution T C intron_variant MELA-AU 12 112649387 112649387 single base substitution G A intron_variant MELA-AU 12 112649449 112649449 single base substitution G A intron_variant MELA-AU 12 112649750 112649750 single base substitution G A downstream_gene_variant MELA-AU 12 112649750 112649750 single base substitution G A intron_variant MELA-AU 12 112649812 112649812 single base substitution C T downstream_gene_variant MELA-AU 12 112649812 112649812 single base substitution C T intron_variant MELA-AU 12 112649852 112649852 single base substitution G A downstream_gene_variant MELA-AU 12 112649852 112649852 single base substitution G A intron_variant MELA-AU 12 112650240 112650240 single base substitution G A downstream_gene_variant MELA-AU 12 112650240 112650240 single base substitution G A intron_variant MELA-AU 12 112650418 112650418 single base substitution C T downstream_gene_variant MELA-AU 12 112650418 112650418 single base substitution C T exon_variant MELA-AU 12 112650418 112650418 single base substitution C T missense_variant G2079E 6236G>A MELA-AU 12 112650418 112650418 single base substitution C T missense_variant G2329E 6986G>A MELA-AU 12 112650418 112650418 single base substitution C T missense_variant G2355E 7064G>A MELA-AU 12 112650745 112650745 single base substitution G A downstream_gene_variant MELA-AU 12 112650745 112650745 single base substitution G A intron_variant MELA-AU 12 112650807 112650807 single base substitution C A downstream_gene_variant MELA-AU 12 112650807 112650807 single base substitution C A intron_variant MELA-AU 12 112651706 112651706 single base substitution G A downstream_gene_variant MELA-AU 12 112651706 112651706 single base substitution G A intron_variant MELA-AU 12 112652732 112652732 single base substitution G A downstream_gene_variant MELA-AU 12 112652732 112652732 single base substitution G A intron_variant MELA-AU 12 112653050 112653050 single base substitution G A downstream_gene_variant MELA-AU 12 112653050 112653050 single base substitution G A intron_variant MELA-AU 12 112654373 112654373 single base substitution A C downstream_gene_variant MELA-AU 12 112654373 112654373 single base substitution A C intron_variant MELA-AU 12 112654879 112654879 single base substitution G A exon_variant MELA-AU 12 112654879 112654879 single base substitution G A missense_variant R1977W 5929C>T MELA-AU 12 112654879 112654879 single base substitution G A missense_variant R2227W 6679C>T MELA-AU 12 112654879 112654879 single base substitution G A missense_variant R2253W 6757C>T MELA-AU 12 112655659 112655659 single base substitution A G intron_variant MELA-AU 12 112655757 112655757 single base substitution C T intron_variant MELA-AU 12 112656588 112656588 single base substitution G A intron_variant MELA-AU 12 112656878 112656878 single base substitution G A intron_variant MELA-AU 12 112657557 112657557 single base substitution C A intron_variant MELA-AU 12 112657557 112657557 single base substitution C A upstream_gene_variant MELA-AU 12 112658081 112658081 single base substitution G A intron_variant MELA-AU 12 112658081 112658081 single base substitution G A upstream_gene_variant MELA-AU 12 112658494 112658494 single base substitution G C intron_variant MELA-AU 12 112658494 112658494 single base substitution G C upstream_gene_variant MELA-AU 12 112658989 112658989 single base substitution A G intron_variant MELA-AU 12 112658989 112658989 single base substitution A G upstream_gene_variant MELA-AU 12 112659360 112659360 single base substitution G A downstream_gene_variant MELA-AU 12 112659360 112659360 single base substitution G A intron_variant MELA-AU 12 112659360 112659360 single base substitution G A upstream_gene_variant MELA-AU 12 112659582 112659582 single base substitution G A downstream_gene_variant MELA-AU 12 112659582 112659582 single base substitution G A intron_variant MELA-AU 12 112659582 112659582 single base substitution G A upstream_gene_variant MELA-AU 12 112659607 112659607 single base substitution G A downstream_gene_variant MELA-AU 12 112659607 112659607 single base substitution G A intron_variant MELA-AU 12 112659607 112659607 single base substitution G A upstream_gene_variant MELA-AU 12 112659746 112659746 single base substitution G C downstream_gene_variant MELA-AU 12 112659746 112659746 single base substitution G C intron_variant MELA-AU 12 112659746 112659746 single base substitution G C upstream_gene_variant MELA-AU 12 112660246 112660246 single base substitution G A downstream_gene_variant MELA-AU 12 112660246 112660246 single base substitution G A intron_variant MELA-AU 12 112660246 112660246 single base substitution G A upstream_gene_variant MELA-AU 12 112660490 112660490 single base substitution T A downstream_gene_variant MELA-AU 12 112660490 112660490 single base substitution T A intron_variant MELA-AU 12 112660490 112660490 single base substitution T A upstream_gene_variant MELA-AU 12 112660625 112660625 single base substitution G A downstream_gene_variant MELA-AU 12 112660625 112660625 single base substitution G A intron_variant MELA-AU 12 112660625 112660625 single base substitution G A upstream_gene_variant MELA-AU 12 112660805 112660805 single base substitution G A downstream_gene_variant MELA-AU 12 112660805 112660805 single base substitution G A intron_variant MELA-AU 12 112660805 112660805 single base substitution G A upstream_gene_variant MELA-AU 12 112661102 112661102 single base substitution G A downstream_gene_variant MELA-AU 12 112661102 112661102 single base substitution G A intron_variant MELA-AU 12 112661102 112661102 single base substitution G A upstream_gene_variant MELA-AU 12 112661287 112661287 single base substitution G A downstream_gene_variant MELA-AU 12 112661287 112661287 single base substitution G A intron_variant MELA-AU 12 112661287 112661287 single base substitution G A upstream_gene_variant MELA-AU 12 112661359 112661359 single base substitution G A downstream_gene_variant MELA-AU 12 112661359 112661359 single base substitution G A intron_variant MELA-AU 12 112661359 112661359 single base substitution G A upstream_gene_variant MELA-AU 12 112661685 112661685 single base substitution G A downstream_gene_variant MELA-AU 12 112661685 112661685 single base substitution G A intron_variant MELA-AU 12 112661685 112661685 single base substitution G A upstream_gene_variant MELA-AU 12 112661744 112661744 single base substitution A C downstream_gene_variant MELA-AU 12 112661744 112661744 single base substitution A C intron_variant MELA-AU 12 112661744 112661744 single base substitution A C upstream_gene_variant MELA-AU 12 112661991 112661991 single base substitution C T downstream_gene_variant MELA-AU 12 112661991 112661991 single base substitution C T intron_variant MELA-AU 12 112661991 112661991 single base substitution C T upstream_gene_variant MELA-AU 12 112662303 112662303 single base substitution C T downstream_gene_variant MELA-AU 12 112662303 112662303 single base substitution C T intron_variant MELA-AU 12 112662303 112662303 single base substitution C T upstream_gene_variant MELA-AU 12 112662393 112662393 single base substitution G A downstream_gene_variant MELA-AU 12 112662393 112662393 single base substitution G A intron_variant MELA-AU 12 112662809 112662809 single base substitution G A downstream_gene_variant MELA-AU 12 112662809 112662809 single base substitution G A intron_variant MELA-AU 12 112662984 112662984 single base substitution G A downstream_gene_variant MELA-AU 12 112662984 112662984 single base substitution G A intron_variant MELA-AU 12 112663451 112663451 single base substitution G A downstream_gene_variant MELA-AU 12 112663451 112663451 single base substitution G A intron_variant MELA-AU 12 112663670 112663670 single base substitution G A downstream_gene_variant MELA-AU 12 112663670 112663670 single base substitution G A intron_variant MELA-AU 12 112664909 112664909 single base substitution G A intron_variant MELA-AU 12 112665143 112665143 single base substitution A G intron_variant MELA-AU 12 112665729 112665729 single base substitution G A intron_variant MELA-AU 12 112665829 112665829 single base substitution G A intron_variant MELA-AU 12 112666461 112666462 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 12 112666461 112666462 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant P1803L 5407CC>TT MELA-AU 12 112666461 112666462 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant P2053L 6157CC>TT MELA-AU 12 112666461 112666462 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant P2079L 6235CC>TT MELA-AU 12 112666461 112666462 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 12 112667109 112667109 single base substitution G A intron_variant MELA-AU 12 112667109 112667109 single base substitution G A upstream_gene_variant MELA-AU 12 112667424 112667424 single base substitution C T intron_variant MELA-AU 12 112667424 112667424 single base substitution C T upstream_gene_variant MELA-AU 12 112667511 112667511 single base substitution G A exon_variant MELA-AU 12 112667511 112667511 single base substitution G A synonymous_variant S1748S 5244C>T MELA-AU 12 112667511 112667511 single base substitution G A synonymous_variant S1998S 5994C>T MELA-AU 12 112667511 112667511 single base substitution G A synonymous_variant S2024S 6072C>T MELA-AU 12 112667511 112667511 single base substitution G A upstream_gene_variant MELA-AU 12 112667745 112667745 single base substitution G A intron_variant MELA-AU 12 112667745 112667745 single base substitution G A upstream_gene_variant MELA-AU 12 112668385 112668385 single base substitution G A intron_variant MELA-AU 12 112668385 112668385 single base substitution G A upstream_gene_variant MELA-AU 12 112668563 112668563 single base substitution G A exon_variant MELA-AU 12 112668563 112668563 single base substitution G A synonymous_variant I1666I 4998C>T MELA-AU 12 112668563 112668563 single base substitution G A synonymous_variant I1916I 5748C>T MELA-AU 12 112668563 112668563 single base substitution G A synonymous_variant I1942I 5826C>T MELA-AU 12 112668563 112668563 single base substitution G A upstream_gene_variant MELA-AU 12 112668742 112668742 single base substitution G A exon_variant MELA-AU 12 112668742 112668742 single base substitution G A intron_variant MELA-AU 12 112668742 112668742 single base substitution G A upstream_gene_variant MELA-AU 12 112668784 112668784 single base substitution G A exon_variant MELA-AU 12 112668784 112668784 single base substitution G A intron_variant MELA-AU 12 112668784 112668784 single base substitution G A upstream_gene_variant MELA-AU 12 112669051 112669051 single base substitution A T exon_variant MELA-AU 12 112669051 112669051 single base substitution A T intron_variant MELA-AU 12 112669051 112669051 single base substitution A T upstream_gene_variant MELA-AU 12 112669203 112669203 single base substitution G A exon_variant MELA-AU 12 112669203 112669203 single base substitution G A intron_variant MELA-AU 12 112669203 112669203 single base substitution G A upstream_gene_variant MELA-AU 12 112669350 112669350 single base substitution G A missense_variant S1634F 4901C>T MELA-AU 12 112669350 112669350 single base substitution G A missense_variant S1884F 5651C>T MELA-AU 12 112669350 112669350 single base substitution G A missense_variant S1910F 5729C>T MELA-AU 12 112669350 112669350 single base substitution G A upstream_gene_variant MELA-AU 12 112669833 112669833 single base substitution G A intron_variant MELA-AU 12 112669833 112669833 single base substitution G A upstream_gene_variant MELA-AU 12 112670068 112670068 single base substitution G A intron_variant MELA-AU 12 112670068 112670068 single base substitution G A upstream_gene_variant MELA-AU 12 112670241 112670241 single base substitution T C intron_variant MELA-AU 12 112670241 112670241 single base substitution T C upstream_gene_variant MELA-AU 12 112670328 112670328 single base substitution A T intron_variant MELA-AU 12 112670328 112670328 single base substitution A T upstream_gene_variant MELA-AU 12 112670700 112670700 single base substitution C T intron_variant MELA-AU 12 112670700 112670700 single base substitution C T upstream_gene_variant MELA-AU 12 112670705 112670705 single base substitution G A intron_variant MELA-AU 12 112670705 112670705 single base substitution G A upstream_gene_variant MELA-AU 12 112670892 112670892 single base substitution G A splice_region_variant MELA-AU 12 112670892 112670892 single base substitution G A upstream_gene_variant MELA-AU 12 112670974 112670974 single base substitution G A intron_variant MELA-AU 12 112670974 112670974 single base substitution G A upstream_gene_variant MELA-AU 12 112671444 112671444 single base substitution T G intron_variant MELA-AU 12 112671444 112671444 single base substitution T G upstream_gene_variant MELA-AU 12 112671467 112671467 single base substitution G A intron_variant MELA-AU 12 112671467 112671467 single base substitution G A upstream_gene_variant MELA-AU 12 112671738 112671738 single base substitution G A intron_variant MELA-AU 12 112671738 112671738 single base substitution G A upstream_gene_variant MELA-AU 12 112672016 112672016 single base substitution C T intron_variant MELA-AU 12 112672016 112672016 single base substitution C T upstream_gene_variant MELA-AU 12 112672771 112672771 single base substitution G A intron_variant MELA-AU 12 112672771 112672771 single base substitution G A upstream_gene_variant MELA-AU 12 112673235 112673235 single base substitution G A intron_variant MELA-AU 12 112673235 112673235 single base substitution G A upstream_gene_variant MELA-AU 12 112673311 112673311 single base substitution G A missense_variant P1486S 4456C>T MELA-AU 12 112673311 112673311 single base substitution G A missense_variant P1736S 5206C>T MELA-AU 12 112673311 112673311 single base substitution G A missense_variant P1762S 5284C>T MELA-AU 12 112673311 112673311 single base substitution G A upstream_gene_variant MELA-AU 12 112673923 112673923 single base substitution G A intron_variant MELA-AU 12 112673923 112673923 single base substitution G A upstream_gene_variant MELA-AU 12 112674097 112674097 single base substitution G A intron_variant MELA-AU 12 112674097 112674097 single base substitution G A upstream_gene_variant MELA-AU 12 112674180 112674180 single base substitution C T intron_variant MELA-AU 12 112674180 112674180 single base substitution C T upstream_gene_variant MELA-AU 12 112674441 112674441 single base substitution G A intron_variant MELA-AU 12 112674523 112674523 single base substitution G A intron_variant MELA-AU 12 112675891 112675891 single base substitution T C intron_variant MELA-AU 12 112676006 112676006 single base substitution G A intron_variant MELA-AU 12 112676589 112676589 single base substitution G A intron_variant MELA-AU 12 112676716 112676716 single base substitution G A intron_variant MELA-AU 12 112677453 112677453 single base substitution C T intron_variant MELA-AU 12 112677836 112677836 single base substitution G A splice_region_variant MELA-AU 12 112678141 112678141 single base substitution A C intron_variant MELA-AU 12 112679024 112679024 single base substitution A C intron_variant MELA-AU 12 112679090 112679090 single base substitution G A intron_variant MELA-AU 12 112679341 112679341 single base substitution C T intron_variant MELA-AU 12 112679986 112679986 single base substitution G A intron_variant MELA-AU 12 112680534 112680534 single base substitution G A intron_variant MELA-AU 12 112680929 112680929 single base substitution G A intron_variant MELA-AU 12 112681123 112681123 single base substitution G A intron_variant MELA-AU 12 112681200 112681200 single base substitution G A missense_variant H1217Y 3649C>T MELA-AU 12 112681200 112681200 single base substitution G A missense_variant H1467Y 4399C>T MELA-AU 12 112681200 112681200 single base substitution G A missense_variant H1493Y 4477C>T MELA-AU 12 112681958 112681958 single base substitution G A intron_variant MELA-AU 12 112682484 112682484 single base substitution T C downstream_gene_variant MELA-AU 12 112682484 112682484 single base substitution T C intron_variant MELA-AU 12 112683387 112683387 single base substitution C T downstream_gene_variant MELA-AU 12 112683387 112683387 single base substitution C T intron_variant MELA-AU 12 112683844 112683844 single base substitution G A downstream_gene_variant MELA-AU 12 112683844 112683844 single base substitution G A intron_variant MELA-AU 12 112683863 112683863 single base substitution G A downstream_gene_variant MELA-AU 12 112683863 112683863 single base substitution G A intron_variant MELA-AU 12 112683971 112683971 single base substitution A G downstream_gene_variant MELA-AU 12 112683971 112683971 single base substitution A G intron_variant MELA-AU 12 112684017 112684017 single base substitution C T downstream_gene_variant MELA-AU 12 112684017 112684017 single base substitution C T intron_variant MELA-AU 12 112684271 112684271 single base substitution C T downstream_gene_variant MELA-AU 12 112684271 112684271 single base substitution C T intron_variant MELA-AU 12 112684481 112684481 single base substitution G A downstream_gene_variant MELA-AU 12 112684481 112684481 single base substitution G A intron_variant MELA-AU 12 112685310 112685310 single base substitution G A downstream_gene_variant MELA-AU 12 112685310 112685310 single base substitution G A synonymous_variant V1009V 3027C>T MELA-AU 12 112685310 112685310 single base substitution G A synonymous_variant V1259V 3777C>T MELA-AU 12 112685310 112685310 single base substitution G A synonymous_variant V1285V 3855C>T MELA-AU 12 112686875 112686875 single base substitution A C downstream_gene_variant MELA-AU 12 112686875 112686875 single base substitution A C intron_variant MELA-AU 12 112686978 112686978 single base substitution G A downstream_gene_variant MELA-AU 12 112686978 112686978 single base substitution G A intron_variant MELA-AU 12 112687338 112687338 single base substitution G A downstream_gene_variant MELA-AU 12 112687338 112687338 single base substitution G A intron_variant MELA-AU 12 112688057 112688057 single base substitution G C exon_variant MELA-AU 12 112688057 112688057 single base substitution G C missense_variant P1109A 3325C>G MELA-AU 12 112688057 112688057 single base substitution G C missense_variant P1135A 3403C>G MELA-AU 12 112688057 112688057 single base substitution G C missense_variant P859A 2575C>G MELA-AU 12 112688119 112688119 single base substitution G A exon_variant MELA-AU 12 112688119 112688119 single base substitution G A missense_variant P1088L 3263C>T MELA-AU 12 112688119 112688119 single base substitution G A missense_variant P1114L 3341C>T MELA-AU 12 112688119 112688119 single base substitution G A missense_variant P838L 2513C>T MELA-AU 12 112689408 112689408 single base substitution G A intron_variant MELA-AU 12 112689796 112689796 single base substitution G A intron_variant MELA-AU 12 112690887 112690887 single base substitution G A intron_variant MELA-AU 12 112691368 112691368 single base substitution G A downstream_gene_variant MELA-AU 12 112691368 112691368 single base substitution G A intron_variant MELA-AU 12 112692445 112692445 single base substitution G A downstream_gene_variant MELA-AU 12 112692445 112692445 single base substitution G A intron_variant MELA-AU 12 112692977 112692977 single base substitution G A downstream_gene_variant MELA-AU 12 112692977 112692977 single base substitution G A intron_variant MELA-AU 12 112693094 112693094 single base substitution G A downstream_gene_variant MELA-AU 12 112693094 112693094 single base substitution G A intron_variant MELA-AU 12 112693333 112693333 single base substitution G A downstream_gene_variant MELA-AU 12 112693333 112693333 single base substitution G A intron_variant MELA-AU 12 112694477 112694477 single base substitution A T downstream_gene_variant MELA-AU 12 112694477 112694477 single base substitution A T intron_variant MELA-AU 12 112694699 112694699 single base substitution G A downstream_gene_variant MELA-AU 12 112694699 112694699 single base substitution G A intron_variant MELA-AU 12 112694865 112694865 single base substitution G A downstream_gene_variant MELA-AU 12 112694865 112694865 single base substitution G A intron_variant MELA-AU 12 112694879 112694879 single base substitution G A downstream_gene_variant MELA-AU 12 112694879 112694879 single base substitution G A intron_variant MELA-AU 12 112694899 112694899 single base substitution G A downstream_gene_variant MELA-AU 12 112694899 112694899 single base substitution G A intron_variant MELA-AU 12 112696451 112696451 single base substitution G A intron_variant MELA-AU 12 112696553 112696553 single base substitution A T intron_variant MELA-AU 12 112696588 112696588 single base substitution C T intron_variant MELA-AU 12 112696618 112696618 single base substitution G A intron_variant MELA-AU 12 112697011 112697011 single base substitution A G exon_variant MELA-AU 12 112697011 112697011 single base substitution A G synonymous_variant L546L 1636T>C MELA-AU 12 112697011 112697011 single base substitution A G synonymous_variant L796L 2386T>C MELA-AU 12 112697011 112697011 single base substitution A G synonymous_variant L832L 2494T>C MELA-AU 12 112697891 112697891 single base substitution C T intron_variant MELA-AU 12 112698796 112698796 single base substitution G A downstream_gene_variant MELA-AU 12 112698796 112698796 single base substitution G A intron_variant MELA-AU 12 112698819 112698819 single base substitution G A downstream_gene_variant MELA-AU 12 112698819 112698819 single base substitution G A intron_variant MELA-AU 12 112699194 112699194 single base substitution G A downstream_gene_variant MELA-AU 12 112699194 112699194 single base substitution G A exon_variant MELA-AU 12 112699194 112699194 single base substitution G A synonymous_variant L498L 1492C>T MELA-AU 12 112699194 112699194 single base substitution G A synonymous_variant L748L 2242C>T MELA-AU 12 112699194 112699194 single base substitution G A synonymous_variant L784L 2350C>T MELA-AU 12 112699769 112699769 single base substitution A T downstream_gene_variant MELA-AU 12 112699769 112699769 single base substitution A T exon_variant MELA-AU 12 112699769 112699769 single base substitution A T intron_variant MELA-AU 12 112700279 112700279 single base substitution C T downstream_gene_variant MELA-AU 12 112700279 112700279 single base substitution C T intron_variant MELA-AU 12 112700279 112700279 single base substitution C T upstream_gene_variant MELA-AU 12 112700765 112700765 single base substitution G A downstream_gene_variant MELA-AU 12 112700765 112700765 single base substitution G A intron_variant MELA-AU 12 112700765 112700765 single base substitution G A upstream_gene_variant MELA-AU 12 112700894 112700894 single base substitution A C downstream_gene_variant MELA-AU 12 112700894 112700894 single base substitution A C intron_variant MELA-AU 12 112700894 112700894 single base substitution A C upstream_gene_variant MELA-AU 12 112701226 112701226 single base substitution G A downstream_gene_variant MELA-AU 12 112701226 112701226 single base substitution G A intron_variant MELA-AU 12 112701226 112701226 single base substitution G A upstream_gene_variant MELA-AU 12 112701319 112701319 single base substitution G A downstream_gene_variant MELA-AU 12 112701319 112701319 single base substitution G A intron_variant MELA-AU 12 112701319 112701319 single base substitution G A upstream_gene_variant MELA-AU 12 112701528 112701528 single base substitution T C downstream_gene_variant MELA-AU 12 112701528 112701528 single base substitution T C intron_variant MELA-AU 12 112701528 112701528 single base substitution T C upstream_gene_variant MELA-AU 12 112701689 112701689 single base substitution G T downstream_gene_variant MELA-AU 12 112701689 112701689 single base substitution G T intron_variant MELA-AU 12 112701689 112701689 single base substitution G T upstream_gene_variant MELA-AU 12 112702067 112702067 single base substitution G A downstream_gene_variant MELA-AU 12 112702067 112702067 single base substitution G A intron_variant MELA-AU 12 112702067 112702067 single base substitution G A upstream_gene_variant MELA-AU 12 112702409 112702409 single base substitution G A downstream_gene_variant MELA-AU 12 112702409 112702409 single base substitution G A intron_variant MELA-AU 12 112702409 112702409 single base substitution G A upstream_gene_variant MELA-AU 12 112702513 112702513 single base substitution G A downstream_gene_variant MELA-AU 12 112702513 112702513 single base substitution G A intron_variant MELA-AU 12 112702513 112702513 single base substitution G A upstream_gene_variant MELA-AU 12 112702513 112702514 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 12 112702513 112702514 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 112702513 112702514 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 12 112702827 112702827 single base substitution C T downstream_gene_variant MELA-AU 12 112702827 112702827 single base substitution C T intron_variant MELA-AU 12 112702827 112702827 single base substitution C T upstream_gene_variant MELA-AU 12 112703874 112703874 single base substitution A T intron_variant MELA-AU 12 112703874 112703874 single base substitution A T upstream_gene_variant MELA-AU 12 112704250 112704250 single base substitution C G intron_variant MELA-AU 12 112704250 112704250 single base substitution C G upstream_gene_variant MELA-AU 12 112705004 112705004 single base substitution G A intron_variant MELA-AU 12 112705420 112705420 single base substitution A G intron_variant MELA-AU 12 112706147 112706147 single base substitution G A intron_variant MELA-AU 12 112706360 112706360 single base substitution G A intron_variant MELA-AU 12 112707527 112707527 single base substitution C T exon_variant MELA-AU 12 112707527 112707527 single base substitution C T missense_variant E14K 40G>A MELA-AU 12 112707527 112707527 single base substitution C T missense_variant E336K 1006G>A MELA-AU 12 112707527 112707527 single base substitution C T missense_variant E586K 1756G>A MELA-AU 12 112707527 112707527 single base substitution C T missense_variant E624K 1870G>A MELA-AU 12 112707760 112707760 single base substitution G A intron_variant MELA-AU 12 112707911 112707911 single base substitution G A intron_variant MELA-AU 12 112708261 112708261 single base substitution C T intron_variant MELA-AU 12 112708261 112708261 single base substitution C T missense_variant E217K 649G>A MELA-AU 12 112708261 112708261 single base substitution C T missense_variant E467K 1399G>A MELA-AU 12 112708261 112708261 single base substitution C T missense_variant E505K 1513G>A MELA-AU 12 112708261 112708261 single base substitution C T splice_region_variant MELA-AU 12 112709381 112709381 single base substitution G A intron_variant MELA-AU 12 112709530 112709530 single base substitution G A intron_variant MELA-AU 12 112709987 112709987 single base substitution G A intron_variant MELA-AU 12 112710704 112710704 single base substitution C G intron_variant MELA-AU 12 112710718 112710718 single base substitution A G intron_variant MELA-AU 12 112711059 112711059 single base substitution G A intron_variant MELA-AU 12 112711203 112711203 single base substitution G A intron_variant MELA-AU 12 112712573 112712574 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 112712573 112712574 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 12 112713026 112713026 single base substitution T C intron_variant MELA-AU 12 112713026 112713026 single base substitution T C upstream_gene_variant MELA-AU 12 112713302 112713302 single base substitution C T intron_variant MELA-AU 12 112713302 112713302 single base substitution C T upstream_gene_variant MELA-AU 12 112714343 112714343 single base substitution C T intron_variant MELA-AU 12 112714343 112714343 single base substitution C T upstream_gene_variant MELA-AU 12 112714437 112714437 single base substitution G A intron_variant MELA-AU 12 112714437 112714437 single base substitution G A upstream_gene_variant MELA-AU 12 112714730 112714730 single base substitution G A intron_variant MELA-AU 12 112714730 112714730 single base substitution G A upstream_gene_variant MELA-AU 12 112714892 112714892 single base substitution T G intron_variant MELA-AU 12 112714892 112714892 single base substitution T G upstream_gene_variant MELA-AU 12 112715699 112715699 single base substitution G A intron_variant MELA-AU 12 112715699 112715699 single base substitution G A upstream_gene_variant MELA-AU 12 112715896 112715896 single base substitution G A intron_variant MELA-AU 12 112715896 112715896 single base substitution G A upstream_gene_variant MELA-AU 12 112716013 112716013 single base substitution G A intron_variant MELA-AU 12 112716013 112716013 single base substitution G A upstream_gene_variant MELA-AU 12 112716604 112716604 single base substitution G A intron_variant MELA-AU 12 112716630 112716630 single base substitution G A intron_variant MELA-AU 12 112717351 112717351 single base substitution G A intron_variant MELA-AU 12 112717588 112717588 single base substitution G A intron_variant MELA-AU 12 112717669 112717669 single base substitution G A intron_variant MELA-AU 12 112718585 112718585 single base substitution A C intron_variant MELA-AU 12 112720170 112720170 single base substitution G A intron_variant MELA-AU 12 112720222 112720222 single base substitution G A intron_variant MELA-AU 12 112720416 112720416 single base substitution G A intron_variant MELA-AU 12 112720822 112720822 single base substitution G A intron_variant MELA-AU 12 112720842 112720842 single base substitution G A intron_variant MELA-AU 12 112722193 112722193 single base substitution G A intron_variant MELA-AU 12 112722278 112722278 single base substitution G A intron_variant MELA-AU 12 112722992 112722992 single base substitution T C intron_variant MELA-AU 12 112723232 112723232 single base substitution A T intron_variant MELA-AU 12 112723554 112723554 single base substitution G A intron_variant MELA-AU 12 112723887 112723887 single base substitution G A intron_variant MELA-AU 12 112724390 112724390 single base substitution G A intron_variant MELA-AU 12 112724750 112724750 single base substitution C T intron_variant MELA-AU 12 112724881 112724881 single base substitution G A intron_variant MELA-AU 12 112725895 112725895 single base substitution G A intron_variant MELA-AU 12 112726150 112726151 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 112726549 112726549 single base substitution G A intron_variant MELA-AU 12 112727215 112727215 single base substitution G A intron_variant MELA-AU 12 112727777 112727777 single base substitution G A intron_variant MELA-AU 12 112728123 112728123 single base substitution C A intron_variant MELA-AU 12 112728581 112728581 single base substitution G A intron_variant MELA-AU 12 112728699 112728699 single base substitution G A intron_variant MELA-AU 12 112729337 112729337 single base substitution C T intron_variant MELA-AU 12 112729711 112729711 single base substitution T C intron_variant MELA-AU 12 112730671 112730671 single base substitution A G intron_variant MELA-AU 12 112731568 112731568 single base substitution G A intron_variant MELA-AU 12 112731602 112731602 single base substitution G A intron_variant MELA-AU 12 112731762 112731762 single base substitution G A intron_variant MELA-AU 12 112731813 112731813 single base substitution C A intron_variant MELA-AU 12 112731907 112731907 single base substitution T G intron_variant MELA-AU 12 112731994 112731994 single base substitution G A intron_variant MELA-AU 12 112732720 112732720 single base substitution G A intron_variant MELA-AU 12 112732952 112732952 single base substitution A G intron_variant MELA-AU 12 112733073 112733073 single base substitution G A intron_variant MELA-AU 12 112733318 112733318 single base substitution T C intron_variant MELA-AU 12 112733421 112733422 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 112733452 112733452 single base substitution C T intron_variant MELA-AU 12 112734145 112734145 single base substitution G A intron_variant MELA-AU 12 112734274 112734274 single base substitution G A intron_variant MELA-AU 12 112734786 112734786 single base substitution G A intron_variant MELA-AU 12 112734816 112734816 single base substitution G A intron_variant MELA-AU 12 112734832 112734832 single base substitution G A intron_variant MELA-AU 12 112735288 112735288 single base substitution G A intron_variant MELA-AU 12 112736010 112736010 single base substitution G A intron_variant MELA-AU 12 112736092 112736092 single base substitution G A intron_variant MELA-AU 12 112736459 112736459 single base substitution G A intron_variant MELA-AU 12 112736784 112736784 single base substitution C T intron_variant MELA-AU 12 112737238 112737238 single base substitution G A intron_variant MELA-AU 12 112737518 112737518 single base substitution C G intron_variant MELA-AU 12 112738040 112738040 single base substitution G A intron_variant MELA-AU 12 112738214 112738214 single base substitution G A intron_variant MELA-AU 12 112738232 112738232 single base substitution G A intron_variant MELA-AU 12 112738307 112738307 single base substitution G A intron_variant MELA-AU 12 112738340 112738340 single base substitution A T intron_variant MELA-AU 12 112738386 112738386 single base substitution G A intron_variant MELA-AU 12 112738791 112738791 single base substitution G A intron_variant MELA-AU 12 112739255 112739255 single base substitution G A intron_variant MELA-AU 12 112739373 112739373 single base substitution G A intron_variant MELA-AU 12 112739461 112739461 single base substitution A T intron_variant MELA-AU 12 112739619 112739619 single base substitution G A intron_variant MELA-AU 12 112739983 112739983 single base substitution G A intron_variant MELA-AU 12 112740824 112740824 single base substitution G A intron_variant MELA-AU 12 112741823 112741823 single base substitution G A intron_variant MELA-AU 12 112741861 112741861 single base substitution G A intron_variant MELA-AU 12 112742198 112742198 single base substitution G A intron_variant MELA-AU 12 112742802 112742802 insertion of <=200bp - A intron_variant MELA-AU 12 112743075 112743075 single base substitution G C intron_variant MELA-AU 12 112743378 112743378 single base substitution G A intron_variant MELA-AU 12 112743559 112743559 single base substitution T C intron_variant MELA-AU 12 112743730 112743730 deletion of <=200bp A - intron_variant MELA-AU 12 112743840 112743840 single base substitution A G intron_variant MELA-AU 12 112744306 112744306 single base substitution G A intron_variant MELA-AU 12 112744561 112744561 single base substitution G A intron_variant MELA-AU 12 112745386 112745386 single base substitution G A intron_variant MELA-AU 12 112746033 112746033 single base substitution G A intron_variant MELA-AU 12 112746079 112746079 single base substitution A G intron_variant MELA-AU 12 112746121 112746121 single base substitution G A intron_variant MELA-AU 12 112746425 112746425 single base substitution A G intron_variant MELA-AU 12 112746455 112746455 single base substitution G A intron_variant MELA-AU 12 112746564 112746564 single base substitution G A 5_prime_UTR_variant MELA-AU 12 112746564 112746564 single base substitution G A intron_variant MELA-AU 12 112746564 112746564 single base substitution G A missense_variant T242I 725C>T MELA-AU 12 112746705 112746705 single base substitution G A intron_variant MELA-AU 12 112747353 112747353 single base substitution C T intron_variant MELA-AU 12 112747384 112747384 single base substitution C T 5_prime_UTR_variant MELA-AU 12 112747384 112747384 single base substitution C T intron_variant MELA-AU 12 112747384 112747384 single base substitution C T missense_variant G192R 574G>A MELA-AU 12 112748269 112748269 single base substitution T C intron_variant MELA-AU 12 112748363 112748364 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 112748973 112748973 single base substitution G A intron_variant MELA-AU 12 112749161 112749161 single base substitution G A intron_variant MELA-AU 12 112749225 112749225 single base substitution G A intron_variant MELA-AU 12 112749407 112749407 single base substitution G A intron_variant MELA-AU 12 112749873 112749873 single base substitution G A intron_variant MELA-AU 12 112750461 112750461 single base substitution G A intron_variant MELA-AU 12 112750601 112750601 single base substitution C T intron_variant MELA-AU 12 112751618 112751618 single base substitution C T intron_variant MELA-AU 12 112751715 112751715 single base substitution G A intron_variant MELA-AU 12 112751833 112751833 single base substitution A G intron_variant MELA-AU 12 112752117 112752117 single base substitution C T intron_variant MELA-AU 12 112752363 112752363 single base substitution G A intron_variant MELA-AU 12 112752788 112752788 single base substitution A C intron_variant MELA-AU 12 112752948 112752948 single base substitution G A intron_variant MELA-AU 12 112753152 112753152 single base substitution G A intron_variant MELA-AU 12 112753172 112753172 single base substitution G A intron_variant MELA-AU 12 112753246 112753246 single base substitution G A intron_variant MELA-AU 12 112753314 112753314 single base substitution G A intron_variant MELA-AU 12 112753381 112753381 single base substitution G T intron_variant MELA-AU 12 112753498 112753498 single base substitution G A intron_variant MELA-AU 12 112753498 112753498 single base substitution G T intron_variant MELA-AU 12 112753557 112753557 single base substitution G A intron_variant MELA-AU 12 112753619 112753619 single base substitution G A intron_variant MELA-AU 12 112754184 112754184 single base substitution C T intron_variant MELA-AU 12 112755200 112755200 single base substitution G A intron_variant MELA-AU 12 112755886 112755886 single base substitution C T intron_variant MELA-AU 12 112756282 112756282 single base substitution G A intron_variant MELA-AU 12 112757673 112757673 single base substitution G A intron_variant MELA-AU 12 112757936 112757936 single base substitution G A intron_variant MELA-AU 12 112758380 112758380 single base substitution C T intron_variant MELA-AU 12 112758399 112758399 single base substitution G A intron_variant MELA-AU 12 112758837 112758837 single base substitution G A intron_variant MELA-AU 12 112759482 112759482 single base substitution A T intron_variant MELA-AU 12 112759723 112759723 single base substitution C T intron_variant MELA-AU 12 112760069 112760069 single base substitution G A intron_variant MELA-AU 12 112761129 112761129 single base substitution G A intron_variant MELA-AU 12 112763304 112763304 single base substitution C T intron_variant MELA-AU 12 112764099 112764099 single base substitution G A intron_variant MELA-AU 12 112764711 112764711 single base substitution G A intron_variant MELA-AU 12 112765137 112765137 single base substitution G A intron_variant MELA-AU 12 112765732 112765732 single base substitution G A intron_variant MELA-AU 12 112765915 112765915 insertion of <=200bp - TATT intron_variant MELA-AU 12 112766852 112766857 deletion of <=200bp ATCTTG - intron_variant MELA-AU 12 112767120 112767120 single base substitution G A intron_variant MELA-AU 12 112767469 112767469 single base substitution G A intron_variant MELA-AU 12 112767900 112767900 single base substitution G A intron_variant MELA-AU 12 112768064 112768064 single base substitution G A intron_variant MELA-AU 12 112768166 112768166 single base substitution G A intron_variant MELA-AU 12 112768168 112768168 single base substitution G A intron_variant MELA-AU 12 112768680 112768680 single base substitution G A intron_variant MELA-AU 12 112770462 112770463 multiple base substitution (>=2bp and <=200bp) CC TA intron_variant MELA-AU 12 112770941 112770941 single base substitution G A intron_variant MELA-AU 12 112771026 112771026 single base substitution G A intron_variant MELA-AU 12 112771454 112771454 single base substitution C T intron_variant MELA-AU 12 112772381 112772381 single base substitution G A intron_variant MELA-AU 12 112772743 112772743 single base substitution G A intron_variant MELA-AU 12 112772845 112772845 single base substitution G A intron_variant MELA-AU 12 112773183 112773183 single base substitution G A intron_variant MELA-AU 12 112773195 112773195 single base substitution G A intron_variant MELA-AU 12 112773218 112773218 single base substitution T C intron_variant MELA-AU 12 112773596 112773615 deletion of <=200bp CAACCTGTTCCCCAATAACC - intron_variant MELA-AU 12 112773925 112773926 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 112774451 112774451 single base substitution G A intron_variant MELA-AU 12 112774687 112774687 single base substitution G C intron_variant MELA-AU 12 112775448 112775448 single base substitution A T intron_variant MELA-AU 12 112775719 112775719 single base substitution C T intron_variant MELA-AU 12 112776630 112776630 single base substitution G A intron_variant MELA-AU 12 112776640 112776640 single base substitution G A intron_variant MELA-AU 12 112776974 112776974 single base substitution G A intron_variant MELA-AU 12 112777279 112777279 single base substitution C T intron_variant MELA-AU 12 112777477 112777477 single base substitution G A intron_variant MELA-AU 12 112777906 112777906 single base substitution G A intron_variant MELA-AU 12 112779283 112779283 single base substitution A T intron_variant MELA-AU 12 112779580 112779580 single base substitution C A intron_variant MELA-AU 12 112780395 112780395 single base substitution C T intron_variant MELA-AU 12 112780633 112780633 single base substitution C T intron_variant MELA-AU 12 112782384 112782384 single base substitution G A intron_variant MELA-AU 12 112782818 112782818 single base substitution G A intron_variant MELA-AU 12 112783144 112783144 single base substitution G A intron_variant MELA-AU 12 112783693 112783693 single base substitution C T intron_variant MELA-AU 12 112783838 112783838 single base substitution G A intron_variant MELA-AU 12 112784468 112784468 single base substitution G A intron_variant MELA-AU 12 112785065 112785065 single base substitution G A intron_variant MELA-AU 12 112786174 112786174 single base substitution G A intron_variant MELA-AU 12 112786990 112786990 single base substitution G A intron_variant MELA-AU 12 112787005 112787005 single base substitution A G intron_variant MELA-AU 12 112787435 112787435 single base substitution A G intron_variant MELA-AU 12 112787756 112787756 single base substitution C T intron_variant MELA-AU 12 112788634 112788634 single base substitution C T intron_variant MELA-AU 12 112789019 112789019 single base substitution A C intron_variant MELA-AU 12 112789285 112789285 single base substitution A G intron_variant MELA-AU 12 112789729 112789729 single base substitution G A intron_variant MELA-AU 12 112789935 112789936 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 112790033 112790033 single base substitution C T intron_variant MELA-AU 12 112790699 112790699 single base substitution C T intron_variant MELA-AU 12 112791083 112791083 single base substitution G A intron_variant MELA-AU 12 112791113 112791113 single base substitution G A intron_variant MELA-AU 12 112791607 112791608 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 112792348 112792348 single base substitution G A intron_variant MELA-AU 12 112792767 112792767 single base substitution G A intron_variant MELA-AU 12 112793494 112793495 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 112793553 112793553 single base substitution G A intron_variant MELA-AU 12 112794508 112794508 single base substitution C T intron_variant MELA-AU 12 112794679 112794680 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 112794859 112794859 single base substitution A G intron_variant MELA-AU 12 112794890 112794890 single base substitution G A intron_variant MELA-AU 12 112795083 112795083 single base substitution G A intron_variant MELA-AU 12 112795840 112795840 single base substitution C T intron_variant MELA-AU 12 112796387 112796387 single base substitution G A intron_variant MELA-AU 12 112796728 112796728 single base substitution C T intron_variant MELA-AU 12 112797127 112797127 single base substitution G A intron_variant MELA-AU 12 112797317 112797317 single base substitution G A intron_variant MELA-AU 12 112797771 112797771 single base substitution G A intron_variant MELA-AU 12 112798354 112798354 single base substitution G A intron_variant MELA-AU 12 112798431 112798431 single base substitution G A intron_variant MELA-AU 12 112798651 112798651 single base substitution G A intron_variant MELA-AU 12 112799168 112799169 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 112799177 112799177 single base substitution G A intron_variant MELA-AU 12 112799270 112799270 single base substitution G A intron_variant MELA-AU 12 112800275 112800276 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 112800309 112800309 single base substitution G A intron_variant MELA-AU 12 112800471 112800471 single base substitution G A intron_variant MELA-AU 12 112801598 112801598 single base substitution G A intron_variant MELA-AU 12 112801722 112801723 multiple base substitution (>=2bp and <=200bp) GT AA intron_variant MELA-AU 12 112802167 112802167 single base substitution C T intron_variant MELA-AU 12 112802971 112802971 single base substitution G A intron_variant MELA-AU 12 112803240 112803240 single base substitution G A intron_variant MELA-AU 12 112805612 112805612 single base substitution G A intron_variant MELA-AU 12 112806317 112806317 single base substitution G A intron_variant MELA-AU 12 112807264 112807264 single base substitution G A intron_variant MELA-AU 12 112809379 112809379 single base substitution C T intron_variant MELA-AU 12 112809395 112809395 single base substitution G A intron_variant MELA-AU 12 112809613 112809613 single base substitution C T intron_variant MELA-AU 12 112810042 112810042 single base substitution A C intron_variant MELA-AU 12 112810256 112810257 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 112810300 112810300 single base substitution C T intron_variant MELA-AU 12 112810357 112810357 single base substitution G A intron_variant MELA-AU 12 112811087 112811087 single base substitution G A intron_variant MELA-AU 12 112811702 112811703 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 112811741 112811741 deletion of <=200bp A - intron_variant MELA-AU 12 112812003 112812004 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 112812343 112812343 single base substitution G A intron_variant MELA-AU 12 112813191 112813191 single base substitution G A intron_variant MELA-AU 12 112814100 112814100 single base substitution G A intron_variant MELA-AU 12 112814320 112814320 single base substitution G A intron_variant MELA-AU 12 112815009 112815009 single base substitution G A intron_variant MELA-AU 12 112815493 112815494 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 112816046 112816046 single base substitution G A intron_variant MELA-AU 12 112816918 112816918 single base substitution A G intron_variant MELA-AU 12 112816968 112816968 single base substitution A T intron_variant MELA-AU 12 112817989 112817989 single base substitution C T intron_variant MELA-AU 12 112818066 112818066 single base substitution T A intron_variant MELA-AU 12 112818185 112818185 single base substitution G A intron_variant MELA-AU 12 112818410 112818410 single base substitution G A intron_variant MELA-AU 12 112818616 112818616 single base substitution G A intron_variant MELA-AU 12 112819289 112819289 single base substitution A C intron_variant MELA-AU 12 112819980 112819980 single base substitution G A upstream_gene_variant MELA-AU 12 112820336 112820336 single base substitution C T upstream_gene_variant MELA-AU 12 112820702 112820702 single base substitution C T upstream_gene_variant MELA-AU 12 112821495 112821495 single base substitution G A upstream_gene_variant MELA-AU 12 112821841 112821841 single base substitution G A upstream_gene_variant MELA-AU 12 112821888 112821888 single base substitution C T upstream_gene_variant MELA-AU 12 112822029 112822029 single base substitution G A upstream_gene_variant MELA-AU 12 112822032 112822032 single base substitution C T upstream_gene_variant MELA-AU 12 112822632 112822632 single base substitution G A upstream_gene_variant MELA-AU 12 112822835 112822835 single base substitution C T upstream_gene_variant MELA-AU 12 112823605 112823605 single base substitution C T upstream_gene_variant MELA-AU 12 112823781 112823781 single base substitution T C upstream_gene_variant MELA-AU 12 112823920 112823920 single base substitution G A upstream_gene_variant MELA-AU 12 112823958 112823958 single base substitution A T upstream_gene_variant MELA-AU 12 112824035 112824035 single base substitution T G upstream_gene_variant MELA-AU 12 112824315 112824315 single base substitution G A upstream_gene_variant MELA-AU 12 112824339 112824339 single base substitution T C upstream_gene_variant MELA-AU 12 112824356 112824357 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 12 112824423 112824423 single base substitution G A upstream_gene_variant MELA-AU 12 112824615 112824616 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 12 112824633 112824633 single base substitution G T upstream_gene_variant MELA-AU 12 112824745 112824745 single base substitution C T upstream_gene_variant MELA-AU 12 112824796 112824796 single base substitution C T upstream_gene_variant MELA-AU 12 112824801 112824801 single base substitution C T upstream_gene_variant ORCA-IN 12 112600317 112600317 single base substitution G T downstream_gene_variant ORCA-IN 12 112600317 112600317 single base substitution G T missense_variant D3955E 11865C>A ORCA-IN 12 112600317 112600317 single base substitution G T missense_variant D4205E 12615C>A ORCA-IN 12 112600317 112600317 single base substitution G T missense_variant D4231E 12693C>A ORCA-IN 12 112600317 112600317 single base substitution G T upstream_gene_variant ORCA-IN 12 112600912 112600912 single base substitution C G downstream_gene_variant ORCA-IN 12 112600912 112600912 single base substitution C G exon_variant ORCA-IN 12 112600912 112600912 single base substitution C G missense_variant G3930R 11788G>C ORCA-IN 12 112600912 112600912 single base substitution C G missense_variant G4180R 12538G>C ORCA-IN 12 112600912 112600912 single base substitution C G missense_variant G4206R 12616G>C ORCA-IN 12 112600912 112600912 single base substitution C G upstream_gene_variant ORCA-IN 12 112601020 112601020 single base substitution C A downstream_gene_variant ORCA-IN 12 112601020 112601020 single base substitution C A exon_variant ORCA-IN 12 112601020 112601020 single base substitution C A stop_gained E3894* 11680G>T ORCA-IN 12 112601020 112601020 single base substitution C A stop_gained E4144* 12430G>T ORCA-IN 12 112601020 112601020 single base substitution C A stop_gained E4170* 12508G>T ORCA-IN 12 112601020 112601020 single base substitution C A upstream_gene_variant ORCA-IN 12 112602046 112602046 single base substitution C A downstream_gene_variant ORCA-IN 12 112602046 112602046 single base substitution C A exon_variant ORCA-IN 12 112602046 112602046 single base substitution C A missense_variant A3768S 11302G>T ORCA-IN 12 112602046 112602046 single base substitution C A missense_variant A4018S 12052G>T ORCA-IN 12 112602046 112602046 single base substitution C A missense_variant A4044S 12130G>T ORCA-IN 12 112602046 112602046 single base substitution C A upstream_gene_variant ORCA-IN 12 112605165 112605165 single base substitution C T downstream_gene_variant ORCA-IN 12 112605165 112605165 single base substitution C T exon_variant ORCA-IN 12 112605165 112605165 single base substitution C T missense_variant E3742K 11224G>A ORCA-IN 12 112605165 112605165 single base substitution C T missense_variant E3992K 11974G>A ORCA-IN 12 112605165 112605165 single base substitution C T missense_variant E4018K 12052G>A ORCA-IN 12 112617068 112617068 single base substitution C G missense_variant Q3285H 9855G>C ORCA-IN 12 112617068 112617068 single base substitution C G missense_variant Q3535H 10605G>C ORCA-IN 12 112617068 112617068 single base substitution C G missense_variant Q3561H 10683G>C ORCA-IN 12 112617068 112617068 single base substitution C G upstream_gene_variant ORCA-IN 12 112622185 112622185 single base substitution C T missense_variant A3107T 9319G>A ORCA-IN 12 112622185 112622185 single base substitution C T missense_variant A3357T 10069G>A ORCA-IN 12 112622185 112622185 single base substitution C T missense_variant A3383T 10147G>A ORCA-IN 12 112622297 112622297 single base substitution C A missense_variant Q3069H 9207G>T ORCA-IN 12 112622297 112622297 single base substitution C A missense_variant Q3319H 9957G>T ORCA-IN 12 112622297 112622297 single base substitution C A missense_variant Q3345H 10035G>T ORCA-IN 12 112627082 112627082 single base substitution C T intron_variant ORCA-IN 12 112630521 112630521 single base substitution G A downstream_gene_variant ORCA-IN 12 112630521 112630521 single base substitution G A synonymous_variant L2623L 7869C>T ORCA-IN 12 112630521 112630521 single base substitution G A synonymous_variant L2873L 8619C>T ORCA-IN 12 112630521 112630521 single base substitution G A synonymous_variant L2899L 8697C>T ORCA-IN 12 112630825 112630825 single base substitution C T downstream_gene_variant ORCA-IN 12 112630825 112630825 single base substitution C T intron_variant ORCA-IN 12 112647451 112647451 single base substitution C T intron_variant ORCA-IN 12 112648010 112648010 single base substitution G T exon_variant ORCA-IN 12 112648010 112648010 single base substitution G T missense_variant A2137E 6410C>A ORCA-IN 12 112648010 112648010 single base substitution G T missense_variant A2387E 7160C>A ORCA-IN 12 112648010 112648010 single base substitution G T missense_variant A2413E 7238C>A ORCA-IN 12 112649488 112649488 single base substitution A C intron_variant ORCA-IN 12 112649675 112649675 single base substitution T A downstream_gene_variant ORCA-IN 12 112649675 112649675 single base substitution T A intron_variant ORCA-IN 12 112658955 112658955 single base substitution C A intron_variant ORCA-IN 12 112658955 112658955 single base substitution C A upstream_gene_variant ORCA-IN 12 112664674 112664674 single base substitution C G intron_variant ORCA-IN 12 112677314 112677314 single base substitution C T intron_variant ORCA-IN 12 112679573 112679573 single base substitution C G intron_variant ORCA-IN 12 112690148 112690148 single base substitution C A intron_variant ORCA-IN 12 112701303 112701303 single base substitution C A downstream_gene_variant ORCA-IN 12 112701303 112701303 single base substitution C A intron_variant ORCA-IN 12 112701303 112701303 single base substitution C A upstream_gene_variant ORCA-IN 12 112702802 112702802 single base substitution C T downstream_gene_variant ORCA-IN 12 112702802 112702802 single base substitution C T intron_variant ORCA-IN 12 112702802 112702802 single base substitution C T upstream_gene_variant ORCA-IN 12 112707522 112707522 single base substitution G C exon_variant ORCA-IN 12 112707522 112707522 single base substitution G C synonymous_variant V15V 45C>G ORCA-IN 12 112707522 112707522 single base substitution G C synonymous_variant V337V 1011C>G ORCA-IN 12 112707522 112707522 single base substitution G C synonymous_variant V587V 1761C>G ORCA-IN 12 112707522 112707522 single base substitution G C synonymous_variant V625V 1875C>G ORCA-IN 12 112713099 112713099 single base substitution T C intron_variant ORCA-IN 12 112713099 112713099 single base substitution T C upstream_gene_variant ORCA-IN 12 112744001 112744001 single base substitution G T intron_variant ORCA-IN 12 112744001 112744001 single base substitution G T missense_variant P257H 770C>A ORCA-IN 12 112744001 112744001 single base substitution G T missense_variant P7H 20C>A ORCA-IN 12 112748573 112748573 single base substitution T C intron_variant ORCA-IN 12 112767352 112767353 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant OV-AU 12 112601215 112601215 single base substitution T C downstream_gene_variant OV-AU 12 112601215 112601215 single base substitution T C intron_variant OV-AU 12 112601215 112601215 single base substitution T C upstream_gene_variant OV-AU 12 112610433 112610433 single base substitution G A intron_variant OV-AU 12 112610433 112610433 single base substitution G A upstream_gene_variant OV-AU 12 112618687 112618687 single base substitution G A intron_variant OV-AU 12 112618687 112618687 single base substitution G A upstream_gene_variant OV-AU 12 112620370 112620370 single base substitution C T intron_variant OV-AU 12 112622163 112622163 single base substitution A C missense_variant L3114R 9341T>G OV-AU 12 112622163 112622163 single base substitution A C missense_variant L3364R 10091T>G OV-AU 12 112622163 112622163 single base substitution A C missense_variant L3390R 10169T>G OV-AU 12 112626311 112626311 single base substitution C G intron_variant OV-AU 12 112643005 112643005 single base substitution C T intron_variant OV-AU 12 112643005 112643005 single base substitution C T upstream_gene_variant OV-AU 12 112650326 112650326 single base substitution C A downstream_gene_variant OV-AU 12 112650326 112650326 single base substitution C A exon_variant OV-AU 12 112650326 112650326 single base substitution C A missense_variant G2110C 6328G>T OV-AU 12 112650326 112650326 single base substitution C A missense_variant G2360C 7078G>T OV-AU 12 112650326 112650326 single base substitution C A missense_variant G2386C 7156G>T OV-AU 12 112661286 112661286 single base substitution C T downstream_gene_variant OV-AU 12 112661286 112661286 single base substitution C T intron_variant OV-AU 12 112661286 112661286 single base substitution C T upstream_gene_variant OV-AU 12 112661811 112661811 single base substitution A G downstream_gene_variant OV-AU 12 112661811 112661811 single base substitution A G intron_variant OV-AU 12 112661811 112661811 single base substitution A G upstream_gene_variant OV-AU 12 112662855 112662855 single base substitution T C downstream_gene_variant OV-AU 12 112662855 112662855 single base substitution T C intron_variant OV-AU 12 112664204 112664204 single base substitution G C downstream_gene_variant OV-AU 12 112664204 112664204 single base substitution G C intron_variant OV-AU 12 112666332 112666332 single base substitution C A intron_variant OV-AU 12 112666332 112666332 single base substitution C A upstream_gene_variant OV-AU 12 112672449 112672449 single base substitution A T intron_variant OV-AU 12 112672449 112672449 single base substitution A T upstream_gene_variant OV-AU 12 112672601 112672601 single base substitution T C intron_variant OV-AU 12 112672601 112672601 single base substitution T C upstream_gene_variant OV-AU 12 112673021 112673021 single base substitution C G missense_variant L1503F 4509G>C OV-AU 12 112673021 112673021 single base substitution C G missense_variant L1753F 5259G>C OV-AU 12 112673021 112673021 single base substitution C G missense_variant L1779F 5337G>C OV-AU 12 112673021 112673021 single base substitution C G upstream_gene_variant OV-AU 12 112688981 112688981 single base substitution T A intron_variant OV-AU 12 112691863 112691863 single base substitution G A downstream_gene_variant OV-AU 12 112691863 112691863 single base substitution G A exon_variant OV-AU 12 112691863 112691863 single base substitution G A missense_variant P712L 2135C>T OV-AU 12 112691863 112691863 single base substitution G A missense_variant P962L 2885C>T OV-AU 12 112691863 112691863 single base substitution G A missense_variant P998L 2993C>T OV-AU 12 112696797 112696797 single base substitution T C intron_variant OV-AU 12 112708734 112708734 single base substitution C A intron_variant OV-AU 12 112719715 112719715 single base substitution A G intron_variant OV-AU 12 112726898 112726898 single base substitution C T intron_variant OV-AU 12 112733390 112733390 single base substitution T G intron_variant OV-AU 12 112747070 112747070 single base substitution A C intron_variant OV-AU 12 112747370 112747370 single base substitution A C 5_prime_UTR_variant OV-AU 12 112747370 112747370 single base substitution A C intron_variant OV-AU 12 112747370 112747370 single base substitution A C synonymous_variant T196T 588T>G OV-AU 12 112760234 112760234 single base substitution G C intron_variant OV-AU 12 112800509 112800509 single base substitution A T intron_variant OV-AU 12 112818506 112818506 single base substitution A G intron_variant OV-US 12 112610483 112610483 single base substitution C T missense_variant C138Y 413G>A OV-US 12 112610483 112610483 single base substitution C T missense_variant C3504Y 10511G>A OV-US 12 112610483 112610483 single base substitution C T missense_variant C3754Y 11261G>A OV-US 12 112610483 112610483 single base substitution C T missense_variant C3780Y 11339G>A OV-US 12 112610483 112610483 single base substitution C T upstream_gene_variant PACA-AU 12 112595880 112595880 single base substitution C G downstream_gene_variant PACA-AU 12 112597402 112597402 single base substitution C T downstream_gene_variant PACA-AU 12 112599396 112599396 single base substitution T C 3_prime_UTR_variant PACA-AU 12 112599396 112599396 single base substitution T C downstream_gene_variant PACA-AU 12 112599396 112599396 single base substitution T C intron_variant PACA-AU 12 112599396 112599396 single base substitution T C upstream_gene_variant PACA-AU 12 112599819 112599819 single base substitution G A 3_prime_UTR_variant PACA-AU 12 112599819 112599819 single base substitution G A downstream_gene_variant PACA-AU 12 112599819 112599819 single base substitution G A intron_variant PACA-AU 12 112599819 112599819 single base substitution G A upstream_gene_variant PACA-AU 12 112616320 112616320 single base substitution G T intron_variant PACA-AU 12 112616320 112616320 single base substitution G T upstream_gene_variant PACA-AU 12 112616695 112616695 single base substitution G A intron_variant PACA-AU 12 112616695 112616695 single base substitution G A upstream_gene_variant PACA-AU 12 112622399 112622399 single base substitution G A synonymous_variant P3035P 9105C>T PACA-AU 12 112622399 112622399 single base substitution G A synonymous_variant P3285P 9855C>T PACA-AU 12 112622399 112622399 single base substitution G A synonymous_variant P3311P 9933C>T PACA-AU 12 112622883 112622885 deletion of <=200bp GAG - disruptive_inframe_deletion SS2873S PACA-AU 12 112622883 112622885 deletion of <=200bp GAG - disruptive_inframe_deletion SS3123S PACA-AU 12 112622883 112622885 deletion of <=200bp GAG - disruptive_inframe_deletion SS3149S PACA-AU 12 112628743 112628743 single base substitution G C downstream_gene_variant PACA-AU 12 112628743 112628743 single base substitution G C missense_variant L2685V 8053C>G PACA-AU 12 112628743 112628743 single base substitution G C missense_variant L2935V 8803C>G PACA-AU 12 112628743 112628743 single base substitution G C missense_variant L2961V 8881C>G PACA-AU 12 112630295 112630295 single base substitution G A downstream_gene_variant PACA-AU 12 112630295 112630295 single base substitution G A intron_variant PACA-AU 12 112637777 112637777 single base substitution T C downstream_gene_variant PACA-AU 12 112637777 112637777 single base substitution T C intron_variant PACA-AU 12 112639769 112639769 single base substitution A T downstream_gene_variant PACA-AU 12 112639769 112639769 single base substitution A T intron_variant PACA-AU 12 112639769 112639769 single base substitution A T upstream_gene_variant PACA-AU 12 112640075 112640075 single base substitution T A downstream_gene_variant PACA-AU 12 112640075 112640075 single base substitution T A intron_variant PACA-AU 12 112640075 112640075 single base substitution T A upstream_gene_variant PACA-AU 12 112641279 112641279 single base substitution G A exon_variant PACA-AU 12 112641279 112641279 single base substitution G A intron_variant PACA-AU 12 112641279 112641279 single base substitution G A upstream_gene_variant PACA-AU 12 112644988 112644988 single base substitution C A intron_variant PACA-AU 12 112644989 112644989 single base substitution C G intron_variant PACA-AU 12 112644991 112644991 single base substitution A C intron_variant PACA-AU 12 112650053 112650053 deletion of <=200bp A - downstream_gene_variant PACA-AU 12 112650053 112650053 deletion of <=200bp A - intron_variant PACA-AU 12 112650362 112650362 single base substitution C A downstream_gene_variant PACA-AU 12 112650362 112650362 single base substitution C A exon_variant PACA-AU 12 112650362 112650362 single base substitution C A missense_variant G2098W 6292G>T PACA-AU 12 112650362 112650362 single base substitution C A missense_variant G2348W 7042G>T PACA-AU 12 112650362 112650362 single base substitution C A missense_variant G2374W 7120G>T PACA-AU 12 112651461 112651461 single base substitution G A downstream_gene_variant PACA-AU 12 112651461 112651461 single base substitution G A intron_variant PACA-AU 12 112658826 112658826 single base substitution G A intron_variant PACA-AU 12 112658826 112658826 single base substitution G A upstream_gene_variant PACA-AU 12 112659206 112659206 single base substitution C A intron_variant PACA-AU 12 112659206 112659206 single base substitution C A upstream_gene_variant PACA-AU 12 112659207 112659207 single base substitution C T intron_variant PACA-AU 12 112659207 112659207 single base substitution C T upstream_gene_variant PACA-AU 12 112662196 112662196 single base substitution G A downstream_gene_variant PACA-AU 12 112662196 112662196 single base substitution G A intron_variant PACA-AU 12 112662196 112662196 single base substitution G A upstream_gene_variant PACA-AU 12 112667132 112667135 deletion of <=200bp AAAC - intron_variant PACA-AU 12 112667132 112667135 deletion of <=200bp AAAC - upstream_gene_variant PACA-AU 12 112681278 112681278 single base substitution G A missense_variant R1191W 3571C>T PACA-AU 12 112681278 112681278 single base substitution G A missense_variant R1441W 4321C>T PACA-AU 12 112681278 112681278 single base substitution G A missense_variant R1467W 4399C>T PACA-AU 12 112681372 112681372 insertion of <=200bp - C intron_variant PACA-AU 12 112685091 112685091 single base substitution A G downstream_gene_variant PACA-AU 12 112685091 112685091 single base substitution A G intron_variant PACA-AU 12 112685912 112685912 single base substitution C A downstream_gene_variant PACA-AU 12 112685912 112685912 single base substitution C A stop_gained E1231* 3691G>T PACA-AU 12 112685912 112685912 single base substitution C A stop_gained E1257* 3769G>T PACA-AU 12 112685912 112685912 single base substitution C A stop_gained E981* 2941G>T PACA-AU 12 112685913 112685913 single base substitution C A downstream_gene_variant PACA-AU 12 112685913 112685913 single base substitution C A synonymous_variant L1230L 3690G>T PACA-AU 12 112685913 112685913 single base substitution C A synonymous_variant L1256L 3768G>T PACA-AU 12 112685913 112685913 single base substitution C A synonymous_variant L980L 2940G>T PACA-AU 12 112687783 112687783 single base substitution G C exon_variant PACA-AU 12 112687783 112687783 single base substitution G C intron_variant PACA-AU 12 112688054 112688054 single base substitution C G exon_variant PACA-AU 12 112688054 112688054 single base substitution C G missense_variant V1110L 3328G>C PACA-AU 12 112688054 112688054 single base substitution C G missense_variant V1136L 3406G>C PACA-AU 12 112688054 112688054 single base substitution C G missense_variant V860L 2578G>C PACA-AU 12 112695271 112695271 single base substitution G C downstream_gene_variant PACA-AU 12 112695271 112695271 single base substitution G C intron_variant PACA-AU 12 112700576 112700576 single base substitution C T downstream_gene_variant PACA-AU 12 112700576 112700576 single base substitution C T intron_variant PACA-AU 12 112700576 112700576 single base substitution C T upstream_gene_variant PACA-AU 12 112705503 112705503 single base substitution T A intron_variant PACA-AU 12 112709120 112709120 single base substitution G C intron_variant PACA-AU 12 112728233 112728233 single base substitution G A intron_variant PACA-AU 12 112730940 112730940 single base substitution C T intron_variant PACA-AU 12 112732950 112732950 single base substitution A G intron_variant PACA-AU 12 112733292 112733292 single base substitution C A intron_variant PACA-AU 12 112735981 112735981 deletion of <=200bp A - intron_variant PACA-AU 12 112743040 112743040 single base substitution A C intron_variant PACA-AU 12 112743414 112743414 single base substitution C T intron_variant PACA-AU 12 112749248 112749248 single base substitution A G intron_variant PACA-AU 12 112749252 112749252 single base substitution A G intron_variant PACA-AU 12 112761209 112761209 single base substitution T A intron_variant PACA-AU 12 112761861 112761861 single base substitution T C intron_variant PACA-AU 12 112766085 112766085 single base substitution G T intron_variant PACA-AU 12 112766118 112766118 deletion of <=200bp T - intron_variant PACA-AU 12 112767675 112767675 single base substitution G T intron_variant PACA-AU 12 112772012 112772012 insertion of <=200bp - TAAA intron_variant PACA-AU 12 112776999 112776999 single base substitution G A intron_variant PACA-AU 12 112777114 112777114 single base substitution C T intron_variant PACA-AU 12 112787388 112787388 single base substitution T C intron_variant PACA-AU 12 112792215 112792215 single base substitution G A intron_variant PACA-AU 12 112793904 112793904 deletion of <=200bp A - intron_variant PACA-AU 12 112801788 112801788 single base substitution T G intron_variant PACA-AU 12 112802208 112802208 single base substitution C T intron_variant PACA-AU 12 112804164 112804164 single base substitution T A intron_variant PACA-AU 12 112804233 112804233 single base substitution G A intron_variant PACA-AU 12 112817080 112817080 single base substitution G A intron_variant PACA-AU 12 112822996 112822996 single base substitution C G upstream_gene_variant PACA-AU 12 112824172 112824172 insertion of <=200bp - TTAGC upstream_gene_variant PACA-CA 12 112597730 112597730 single base substitution C A downstream_gene_variant PACA-CA 12 112598353 112598353 insertion of <=200bp - A 3_prime_UTR_variant PACA-CA 12 112598353 112598353 insertion of <=200bp - A downstream_gene_variant PACA-CA 12 112598353 112598353 insertion of <=200bp - A exon_variant PACA-CA 12 112598602 112598602 single base substitution C T 3_prime_UTR_variant PACA-CA 12 112598602 112598602 single base substitution C T downstream_gene_variant PACA-CA 12 112598602 112598602 single base substitution C T intron_variant PACA-CA 12 112607523 112607523 single base substitution G A downstream_gene_variant PACA-CA 12 112607523 112607523 single base substitution G A exon_variant PACA-CA 12 112607523 112607523 single base substitution G A intron_variant PACA-CA 12 112607523 112607523 single base substitution G A upstream_gene_variant PACA-CA 12 112610270 112610270 single base substitution G C intron_variant PACA-CA 12 112610270 112610270 single base substitution G C upstream_gene_variant PACA-CA 12 112611942 112611942 single base substitution C T intron_variant PACA-CA 12 112611942 112611942 single base substitution C T upstream_gene_variant PACA-CA 12 112612856 112612856 single base substitution C T intron_variant PACA-CA 12 112612856 112612856 single base substitution C T upstream_gene_variant PACA-CA 12 112616453 112616453 single base substitution G A intron_variant PACA-CA 12 112616453 112616453 single base substitution G A upstream_gene_variant PACA-CA 12 112616978 112616978 single base substitution C A missense_variant Q3315H 9945G>T PACA-CA 12 112616978 112616978 single base substitution C A missense_variant Q3565H 10695G>T PACA-CA 12 112616978 112616978 single base substitution C A missense_variant Q3591H 10773G>T PACA-CA 12 112616978 112616978 single base substitution C A upstream_gene_variant PACA-CA 12 112617015 112617015 single base substitution C T missense_variant R3303Q 9908G>A PACA-CA 12 112617015 112617015 single base substitution C T missense_variant R3553Q 10658G>A PACA-CA 12 112617015 112617015 single base substitution C T missense_variant R3579Q 10736G>A PACA-CA 12 112617015 112617015 single base substitution C T upstream_gene_variant PACA-CA 12 112620082 112620082 single base substitution C T intron_variant PACA-CA 12 112630238 112630238 single base substitution G A downstream_gene_variant PACA-CA 12 112630238 112630238 single base substitution G A intron_variant PACA-CA 12 112630415 112630415 single base substitution C T downstream_gene_variant PACA-CA 12 112630415 112630415 single base substitution C T missense_variant D2659N 7975G>A PACA-CA 12 112630415 112630415 single base substitution C T missense_variant D2909N 8725G>A PACA-CA 12 112630415 112630415 single base substitution C T missense_variant D2935N 8803G>A PACA-CA 12 112631949 112631949 single base substitution G A downstream_gene_variant PACA-CA 12 112631949 112631949 single base substitution G A intron_variant PACA-CA 12 112633493 112633493 single base substitution A C intron_variant PACA-CA 12 112635935 112635935 single base substitution G C downstream_gene_variant PACA-CA 12 112635935 112635935 single base substitution G C intron_variant PACA-CA 12 112637099 112637099 single base substitution C T downstream_gene_variant PACA-CA 12 112637099 112637099 single base substitution C T intron_variant PACA-CA 12 112638680 112638680 single base substitution C T downstream_gene_variant PACA-CA 12 112638680 112638680 single base substitution C T intron_variant PACA-CA 12 112645740 112645740 single base substitution C T exon_variant PACA-CA 12 112645740 112645740 single base substitution C T missense_variant R2268H 6803G>A PACA-CA 12 112645740 112645740 single base substitution C T missense_variant R2518H 7553G>A PACA-CA 12 112645740 112645740 single base substitution C T missense_variant R2544H 7631G>A PACA-CA 12 112653593 112653593 single base substitution G A downstream_gene_variant PACA-CA 12 112653593 112653593 single base substitution G A intron_variant PACA-CA 12 112655122 112655122 single base substitution T C intron_variant PACA-CA 12 112655123 112655142 deletion of <=200bp ACACACACACACACACATAC - intron_variant PACA-CA 12 112657680 112657680 single base substitution A C intron_variant PACA-CA 12 112657680 112657680 single base substitution A C upstream_gene_variant PACA-CA 12 112658479 112658479 single base substitution T C intron_variant PACA-CA 12 112658479 112658479 single base substitution T C upstream_gene_variant PACA-CA 12 112658494 112658494 single base substitution G A intron_variant PACA-CA 12 112658494 112658494 single base substitution G A upstream_gene_variant PACA-CA 12 112660297 112660297 single base substitution C A downstream_gene_variant PACA-CA 12 112660297 112660297 single base substitution C A intron_variant PACA-CA 12 112660297 112660297 single base substitution C A upstream_gene_variant PACA-CA 12 112662322 112662322 single base substitution G A downstream_gene_variant PACA-CA 12 112662322 112662322 single base substitution G A intron_variant PACA-CA 12 112662322 112662322 single base substitution G A upstream_gene_variant PACA-CA 12 112667600 112667600 insertion of <=200bp - C exon_variant PACA-CA 12 112667600 112667600 insertion of <=200bp - C frameshift_variant K1719R? PACA-CA 12 112667600 112667600 insertion of <=200bp - C frameshift_variant K1969R? PACA-CA 12 112667600 112667600 insertion of <=200bp - C frameshift_variant K1995R? PACA-CA 12 112667600 112667600 insertion of <=200bp - C upstream_gene_variant PACA-CA 12 112672060 112672060 insertion of <=200bp - A intron_variant PACA-CA 12 112672060 112672060 insertion of <=200bp - A upstream_gene_variant PACA-CA 12 112672858 112672858 single base substitution G C intron_variant PACA-CA 12 112672858 112672858 single base substitution G C upstream_gene_variant PACA-CA 12 112673515 112673515 single base substitution G A missense_variant R1418C 4252C>T PACA-CA 12 112673515 112673515 single base substitution G A missense_variant R1668C 5002C>T PACA-CA 12 112673515 112673515 single base substitution G A missense_variant R1694C 5080C>T PACA-CA 12 112673515 112673515 single base substitution G A upstream_gene_variant PACA-CA 12 112680545 112680545 single base substitution T C intron_variant PACA-CA 12 112683335 112683335 insertion of <=200bp - C downstream_gene_variant PACA-CA 12 112683335 112683335 insertion of <=200bp - C intron_variant PACA-CA 12 112685557 112685557 single base substitution T C downstream_gene_variant PACA-CA 12 112685557 112685557 single base substitution T C intron_variant PACA-CA 12 112687546 112687546 single base substitution C G exon_variant PACA-CA 12 112687546 112687546 single base substitution C G intron_variant PACA-CA 12 112693610 112693610 single base substitution T A downstream_gene_variant PACA-CA 12 112693610 112693610 single base substitution T A intron_variant PACA-CA 12 112699462 112699462 single base substitution G C downstream_gene_variant PACA-CA 12 112699462 112699462 single base substitution G C exon_variant PACA-CA 12 112699462 112699462 single base substitution G C intron_variant PACA-CA 12 112702517 112702517 single base substitution T C downstream_gene_variant PACA-CA 12 112702517 112702517 single base substitution T C intron_variant PACA-CA 12 112702517 112702517 single base substitution T C upstream_gene_variant PACA-CA 12 112703945 112703945 single base substitution G A intron_variant PACA-CA 12 112703945 112703945 single base substitution G A upstream_gene_variant PACA-CA 12 112704592 112704592 single base substitution T C intron_variant PACA-CA 12 112704592 112704592 single base substitution T C upstream_gene_variant PACA-CA 12 112704724 112704724 single base substitution A G exon_variant PACA-CA 12 112704724 112704724 single base substitution A G missense_variant L363S 1088T>C PACA-CA 12 112704724 112704724 single base substitution A G missense_variant L41S 122T>C PACA-CA 12 112704724 112704724 single base substitution A G missense_variant L613S 1838T>C PACA-CA 12 112704724 112704724 single base substitution A G missense_variant L651S 1952T>C PACA-CA 12 112704724 112704724 single base substitution A G upstream_gene_variant PACA-CA 12 112705864 112705864 single base substitution C T intron_variant PACA-CA 12 112707796 112707796 single base substitution C T intron_variant PACA-CA 12 112709996 112709996 single base substitution C T intron_variant PACA-CA 12 112713119 112713119 single base substitution T C intron_variant PACA-CA 12 112713119 112713119 single base substitution T C upstream_gene_variant PACA-CA 12 112715667 112715667 deletion of <=200bp T - intron_variant PACA-CA 12 112715667 112715667 deletion of <=200bp T - upstream_gene_variant PACA-CA 12 112718930 112718930 single base substitution T C intron_variant PACA-CA 12 112721241 112721241 single base substitution T G intron_variant PACA-CA 12 112728544 112728544 single base substitution C T intron_variant PACA-CA 12 112728708 112728708 insertion of <=200bp - GAG intron_variant PACA-CA 12 112732764 112732764 single base substitution A C intron_variant PACA-CA 12 112733630 112733630 single base substitution C T intron_variant PACA-CA 12 112734553 112734553 single base substitution A G intron_variant PACA-CA 12 112734756 112734756 single base substitution T G intron_variant PACA-CA 12 112735017 112735017 single base substitution A G intron_variant PACA-CA 12 112736718 112736718 single base substitution T A intron_variant PACA-CA 12 112748100 112748100 single base substitution C T intron_variant PACA-CA 12 112748316 112748316 single base substitution G T intron_variant PACA-CA 12 112751182 112751182 single base substitution G A intron_variant PACA-CA 12 112751570 112751570 single base substitution C T intron_variant PACA-CA 12 112751584 112751584 single base substitution C T intron_variant PACA-CA 12 112752903 112752903 single base substitution G A intron_variant PACA-CA 12 112755422 112755422 single base substitution C A intron_variant PACA-CA 12 112756196 112756196 single base substitution A T intron_variant PACA-CA 12 112758513 112758518 deletion of <=200bp AAAGTT - intron_variant PACA-CA 12 112759380 112759380 single base substitution G T intron_variant PACA-CA 12 112760792 112760792 single base substitution A C intron_variant PACA-CA 12 112761411 112761411 single base substitution A G intron_variant PACA-CA 12 112763394 112763394 single base substitution G A intron_variant PACA-CA 12 112764314 112764314 insertion of <=200bp - A intron_variant PACA-CA 12 112764449 112764449 single base substitution T A intron_variant PACA-CA 12 112768505 112768505 single base substitution T C intron_variant PACA-CA 12 112772047 112772047 insertion of <=200bp - TAAC intron_variant PACA-CA 12 112779143 112779143 single base substitution A G intron_variant PACA-CA 12 112779759 112779759 single base substitution T C intron_variant PACA-CA 12 112781582 112781582 single base substitution A G intron_variant PACA-CA 12 112782916 112782916 single base substitution G A intron_variant PACA-CA 12 112783084 112783084 single base substitution T A intron_variant PACA-CA 12 112783988 112783988 single base substitution G C intron_variant PACA-CA 12 112795181 112795181 single base substitution T C intron_variant PACA-CA 12 112795839 112795839 single base substitution T C intron_variant PACA-CA 12 112797316 112797316 single base substitution C T intron_variant PACA-CA 12 112797428 112797428 single base substitution G C intron_variant PACA-CA 12 112798090 112798090 single base substitution A G intron_variant PACA-CA 12 112799812 112799812 single base substitution G T intron_variant PACA-CA 12 112799813 112799813 single base substitution G T intron_variant PACA-CA 12 112800771 112800771 single base substitution A C intron_variant PACA-CA 12 112801074 112801074 single base substitution T A intron_variant PACA-CA 12 112803714 112803714 single base substitution G A intron_variant PACA-CA 12 112808425 112808425 single base substitution A T intron_variant PACA-CA 12 112809216 112809216 single base substitution C G intron_variant PACA-CA 12 112814683 112814683 single base substitution G A intron_variant PACA-CA 12 112815596 112815596 single base substitution C G intron_variant PACA-CA 12 112821149 112821149 single base substitution G T upstream_gene_variant PACA-CA 12 112823292 112823292 single base substitution A T upstream_gene_variant PAEN-AU 12 112597367 112597367 single base substitution T C downstream_gene_variant PAEN-AU 12 112670271 112670271 single base substitution A T intron_variant PAEN-AU 12 112670271 112670271 single base substitution A T upstream_gene_variant PAEN-AU 12 112726037 112726037 single base substitution C T intron_variant PAEN-AU 12 112735032 112735032 single base substitution G A intron_variant PAEN-AU 12 112769263 112769263 single base substitution C G intron_variant PAEN-AU 12 112772012 112772015 deletion of <=200bp TAAA - intron_variant PAEN-AU 12 112772212 112772212 single base substitution G A intron_variant PAEN-AU 12 112772213 112772213 single base substitution C A intron_variant PAEN-AU 12 112775126 112775126 single base substitution G C intron_variant PAEN-AU 12 112787726 112787726 single base substitution T G intron_variant PAEN-IT 12 112593438 112593438 single base substitution G A downstream_gene_variant PAEN-IT 12 112605624 112605624 single base substitution C A downstream_gene_variant PAEN-IT 12 112605624 112605624 single base substitution C A exon_variant PAEN-IT 12 112605624 112605624 single base substitution C A missense_variant K3680N 11040G>T PAEN-IT 12 112605624 112605624 single base substitution C A missense_variant K3930N 11790G>T PAEN-IT 12 112605624 112605624 single base substitution C A missense_variant K3956N 11868G>T PAEN-IT 12 112610148 112610148 single base substitution C G intron_variant PAEN-IT 12 112610148 112610148 single base substitution C G upstream_gene_variant PAEN-IT 12 112615411 112615411 single base substitution C A intron_variant PAEN-IT 12 112615411 112615411 single base substitution C A upstream_gene_variant PAEN-IT 12 112670225 112670225 single base substitution T C intron_variant PAEN-IT 12 112670225 112670225 single base substitution T C upstream_gene_variant PAEN-IT 12 112680075 112680075 single base substitution T C intron_variant PAEN-IT 12 112746019 112746019 single base substitution G A intron_variant PBCA-DE 12 112594112 112594112 deletion of <=200bp C - downstream_gene_variant PBCA-DE 12 112595491 112595491 single base substitution C T downstream_gene_variant PBCA-DE 12 112611507 112611507 insertion of <=200bp - T intron_variant PBCA-DE 12 112611507 112611507 insertion of <=200bp - T upstream_gene_variant PBCA-DE 12 112611806 112611806 single base substitution A G intron_variant PBCA-DE 12 112611806 112611806 single base substitution A G upstream_gene_variant PBCA-DE 12 112613001 112613001 single base substitution C T intron_variant PBCA-DE 12 112633184 112633184 insertion of <=200bp - AC intron_variant PBCA-DE 12 112643923 112643923 single base substitution T G intron_variant PBCA-DE 12 112643923 112643923 single base substitution T G upstream_gene_variant PBCA-DE 12 112644769 112644769 single base substitution G A intron_variant PBCA-DE 12 112647452 112647452 single base substitution G A intron_variant PBCA-DE 12 112656902 112656902 deletion of <=200bp A - intron_variant PBCA-DE 12 112667132 112667143 deletion of <=200bp AAACAAACAAAC - intron_variant PBCA-DE 12 112667132 112667143 deletion of <=200bp AAACAAACAAAC - upstream_gene_variant PBCA-DE 12 112673848 112673848 single base substitution C T intron_variant PBCA-DE 12 112673848 112673848 single base substitution C T upstream_gene_variant PBCA-DE 12 112674973 112674973 single base substitution G A intron_variant PBCA-DE 12 112680719 112680719 insertion of <=200bp - A intron_variant PBCA-DE 12 112685782 112685783 deletion of <=200bp AC - downstream_gene_variant PBCA-DE 12 112685782 112685783 deletion of <=200bp AC - intron_variant PBCA-DE 12 112713424 112713425 deletion of <=200bp AT - intron_variant PBCA-DE 12 112713424 112713425 deletion of <=200bp AT - upstream_gene_variant PBCA-DE 12 112725644 112725644 single base substitution C G intron_variant PBCA-DE 12 112727385 112727385 insertion of <=200bp - T intron_variant PBCA-DE 12 112729569 112729569 single base substitution G A intron_variant PBCA-DE 12 112734685 112734685 single base substitution G T intron_variant PBCA-DE 12 112738697 112738697 insertion of <=200bp - T intron_variant PBCA-DE 12 112742451 112742451 single base substitution A G intron_variant PBCA-DE 12 112753905 112753905 single base substitution G C intron_variant PBCA-DE 12 112758804 112758804 deletion of <=200bp T - intron_variant PBCA-DE 12 112760182 112760182 insertion of <=200bp - A intron_variant PBCA-DE 12 112761906 112761906 deletion of <=200bp C - intron_variant PBCA-DE 12 112772948 112772949 deletion of <=200bp AC - intron_variant PBCA-DE 12 112773364 112773364 single base substitution C T intron_variant PBCA-DE 12 112777388 112777389 deletion of <=200bp GT - intron_variant PBCA-DE 12 112787769 112787769 insertion of <=200bp - T intron_variant PBCA-DE 12 112797098 112797098 insertion of <=200bp - T intron_variant PBCA-DE 12 112802224 112802224 single base substitution A T intron_variant PBCA-DE 12 112821587 112821589 deletion of <=200bp AAT - upstream_gene_variant PBCA-DE 12 112822455 112822455 single base substitution A G upstream_gene_variant PRAD-CA 12 112614649 112614649 single base substitution C T intron_variant PRAD-CA 12 112614649 112614649 single base substitution C T upstream_gene_variant PRAD-CA 12 112689758 112689758 single base substitution T G intron_variant PRAD-CA 12 112707557 112707557 single base substitution T C exon_variant PRAD-CA 12 112707557 112707557 single base substitution T C missense_variant K326E 976A>G PRAD-CA 12 112707557 112707557 single base substitution T C missense_variant K4E 10A>G PRAD-CA 12 112707557 112707557 single base substitution T C missense_variant K576E 1726A>G PRAD-CA 12 112707557 112707557 single base substitution T C missense_variant K614E 1840A>G PRAD-CA 12 112722376 112722376 single base substitution G A intron_variant PRAD-CA 12 112723778 112723778 single base substitution G C intron_variant PRAD-CA 12 112731484 112731484 single base substitution A C intron_variant PRAD-CA 12 112733614 112733614 single base substitution A T intron_variant PRAD-CA 12 112733630 112733630 single base substitution C T intron_variant PRAD-CA 12 112734756 112734756 single base substitution T G intron_variant PRAD-CA 12 112760908 112760908 single base substitution G A intron_variant PRAD-CA 12 112761845 112761845 single base substitution C T intron_variant PRAD-CA 12 112763631 112763631 single base substitution C T intron_variant PRAD-CA 12 112771126 112771126 single base substitution A C intron_variant PRAD-CA 12 112775300 112775300 single base substitution G C intron_variant PRAD-CA 12 112792320 112792320 single base substitution G T intron_variant PRAD-CA 12 112802315 112802315 single base substitution C G intron_variant PRAD-CA 12 112814053 112814053 single base substitution T G intron_variant PRAD-UK 12 112673848 112673848 single base substitution C T intron_variant PRAD-UK 12 112673848 112673848 single base substitution C T upstream_gene_variant PRAD-UK 12 112679070 112679070 single base substitution T C intron_variant PRAD-UK 12 112680986 112680986 single base substitution C T intron_variant PRAD-UK 12 112681036 112681036 single base substitution T G intron_variant PRAD-UK 12 112703661 112703661 single base substitution G T downstream_gene_variant PRAD-UK 12 112703661 112703661 single base substitution G T intron_variant PRAD-UK 12 112703661 112703661 single base substitution G T upstream_gene_variant PRAD-UK 12 112706607 112706607 single base substitution A C intron_variant PRAD-UK 12 112707551 112707551 single base substitution G T exon_variant PRAD-UK 12 112707551 112707551 single base substitution G T missense_variant Q328K 982C>A PRAD-UK 12 112707551 112707551 single base substitution G T missense_variant Q578K 1732C>A PRAD-UK 12 112707551 112707551 single base substitution G T missense_variant Q616K 1846C>A PRAD-UK 12 112707551 112707551 single base substitution G T missense_variant Q6K 16C>A PRAD-UK 12 112710904 112710904 single base substitution C T intron_variant PRAD-UK 12 112713124 112713124 single base substitution A C intron_variant PRAD-UK 12 112713124 112713124 single base substitution A C upstream_gene_variant PRAD-UK 12 112729448 112729448 single base substitution G A intron_variant PRAD-UK 12 112731093 112731093 single base substitution T C intron_variant PRAD-UK 12 112734755 112734755 single base substitution T C intron_variant PRAD-UK 12 112737945 112737945 single base substitution C A intron_variant PRAD-UK 12 112738845 112738845 single base substitution T A intron_variant PRAD-UK 12 112739011 112739011 single base substitution G A intron_variant PRAD-UK 12 112743788 112743788 single base substitution A C intron_variant PRAD-UK 12 112760477 112760490 multiple base substitution (>=2bp and <=200bp) GAATTCAAGATGGG GTAA intron_variant PRAD-UK 12 112773736 112773736 single base substitution G A intron_variant PRAD-UK 12 112778527 112778527 deletion of <=200bp A - intron_variant PRAD-UK 12 112784288 112784288 deletion of <=200bp A - intron_variant PRAD-UK 12 112784288 112784288 single base substitution A T intron_variant PRAD-UK 12 112790805 112790805 single base substitution T C intron_variant PRAD-UK 12 112793074 112793074 single base substitution G A intron_variant PRAD-UK 12 112795471 112795471 insertion of <=200bp - AAG intron_variant PRAD-UK 12 112796210 112796210 single base substitution A G intron_variant PRAD-UK 12 112797892 112797892 single base substitution T C intron_variant PRAD-UK 12 112809135 112809135 single base substitution T A intron_variant PRAD-UK 12 112815433 112815433 single base substitution G C intron_variant PRAD-UK 12 112817012 112817012 single base substitution G A intron_variant PRAD-UK 12 112818896 112818896 single base substitution C A intron_variant PRAD-US 12 112622883 112622885 deletion of <=200bp GAG - disruptive_inframe_deletion SS2873S PRAD-US 12 112622883 112622885 deletion of <=200bp GAG - disruptive_inframe_deletion SS3123S PRAD-US 12 112622883 112622885 deletion of <=200bp GAG - disruptive_inframe_deletion SS3149S PRAD-US 12 112632752 112632752 single base substitution G A downstream_gene_variant PRAD-US 12 112632752 112632752 single base substitution G A missense_variant R2474W 7420C>T PRAD-US 12 112632752 112632752 single base substitution G A missense_variant R2724W 8170C>T PRAD-US 12 112632752 112632752 single base substitution G A missense_variant R2750W 8248C>T PRAD-US 12 112650410 112650411 deletion of <=200bp GT - downstream_gene_variant PRAD-US 12 112650410 112650411 deletion of <=200bp GT - exon_variant PRAD-US 12 112650410 112650411 deletion of <=200bp GT - frameshift_variant PP2081 PRAD-US 12 112650410 112650411 deletion of <=200bp GT - frameshift_variant PP2331 PRAD-US 12 112650410 112650411 deletion of <=200bp GT - frameshift_variant PP2357 PRAD-US 12 112673539 112673539 single base substitution G A missense_variant L1410F 4228C>T PRAD-US 12 112673539 112673539 single base substitution G A missense_variant L1660F 4978C>T PRAD-US 12 112673539 112673539 single base substitution G A missense_variant L1686F 5056C>T PRAD-US 12 112673539 112673539 single base substitution G A upstream_gene_variant PRAD-US 12 112708216 112708216 single base substitution C T exon_variant PRAD-US 12 112708216 112708216 single base substitution C T intron_variant PRAD-US 12 112708216 112708216 single base substitution C T missense_variant V232I 694G>A PRAD-US 12 112708216 112708216 single base substitution C T missense_variant V482I 1444G>A PRAD-US 12 112708216 112708216 single base substitution C T missense_variant V520I 1558G>A PRAD-US 12 112717041 112717041 single base substitution A G intron_variant PRAD-US 12 112717041 112717041 single base substitution A G missense_variant S166P 496T>C PRAD-US 12 112717041 112717041 single base substitution A G missense_variant S416P 1246T>C READ-US 12 112600860 112600860 deletion of <=200bp G - downstream_gene_variant READ-US 12 112600860 112600860 deletion of <=200bp G - exon_variant READ-US 12 112600860 112600860 deletion of <=200bp G - frameshift_variant P3947 READ-US 12 112600860 112600860 deletion of <=200bp G - frameshift_variant P4197 READ-US 12 112600860 112600860 deletion of <=200bp G - frameshift_variant P4223 READ-US 12 112600860 112600860 deletion of <=200bp G - upstream_gene_variant READ-US 12 112601455 112601455 single base substitution C T downstream_gene_variant READ-US 12 112601455 112601455 single base substitution C T exon_variant READ-US 12 112601455 112601455 single base substitution C T missense_variant R3841Q 11522G>A READ-US 12 112601455 112601455 single base substitution C T missense_variant R4091Q 12272G>A READ-US 12 112601455 112601455 single base substitution C T missense_variant R4117Q 12350G>A READ-US 12 112601455 112601455 single base substitution C T upstream_gene_variant READ-US 12 112631389 112631389 single base substitution A C downstream_gene_variant READ-US 12 112631389 112631389 single base substitution A C missense_variant Y2525D 7573T>G READ-US 12 112631389 112631389 single base substitution A C missense_variant Y2775D 8323T>G READ-US 12 112631389 112631389 single base substitution A C missense_variant Y2801D 8401T>G READ-US 12 112642301 112642301 single base substitution T G exon_variant READ-US 12 112642301 112642301 single base substitution T G missense_variant K2331T 6992A>C READ-US 12 112642301 112642301 single base substitution T G missense_variant K2581T 7742A>C READ-US 12 112642301 112642301 single base substitution T G missense_variant K2607T 7820A>C READ-US 12 112642301 112642301 single base substitution T G upstream_gene_variant READ-US 12 112681560 112681560 single base substitution C T missense_variant R1130H 3389G>A READ-US 12 112681560 112681560 single base substitution C T missense_variant R1380H 4139G>A READ-US 12 112681560 112681560 single base substitution C T missense_variant R1406H 4217G>A READ-US 12 112717167 112717167 single base substitution G A intron_variant READ-US 12 112717167 112717167 single base substitution G A synonymous_variant L124L 370C>T READ-US 12 112717167 112717167 single base substitution G A synonymous_variant L374L 1120C>T RECA-EU 12 112617150 112617150 single base substitution C T missense_variant S3258N 9773G>A RECA-EU 12 112617150 112617150 single base substitution C T missense_variant S3508N 10523G>A RECA-EU 12 112617150 112617150 single base substitution C T missense_variant S3534N 10601G>A RECA-EU 12 112617150 112617150 single base substitution C T upstream_gene_variant RECA-EU 12 112624532 112624532 single base substitution C T intron_variant RECA-EU 12 112633686 112633686 single base substitution C A intron_variant RECA-EU 12 112658137 112658137 single base substitution T C intron_variant RECA-EU 12 112658137 112658137 single base substitution T C upstream_gene_variant RECA-EU 12 112660715 112660715 single base substitution T A downstream_gene_variant RECA-EU 12 112660715 112660715 single base substitution T A intron_variant RECA-EU 12 112660715 112660715 single base substitution T A upstream_gene_variant RECA-EU 12 112662459 112662459 single base substitution A T downstream_gene_variant RECA-EU 12 112662459 112662459 single base substitution A T intron_variant RECA-EU 12 112675124 112675124 single base substitution A C intron_variant RECA-EU 12 112684476 112684476 single base substitution C T downstream_gene_variant RECA-EU 12 112684476 112684476 single base substitution C T intron_variant RECA-EU 12 112704027 112704027 single base substitution A C intron_variant RECA-EU 12 112704027 112704027 single base substitution A C upstream_gene_variant RECA-EU 12 112710042 112710042 single base substitution T C intron_variant RECA-EU 12 112732335 112732335 single base substitution T A intron_variant RECA-EU 12 112742240 112742240 single base substitution T G intron_variant RECA-EU 12 112760087 112760087 single base substitution A C intron_variant RECA-EU 12 112775875 112775875 single base substitution C T intron_variant RECA-EU 12 112781377 112781377 single base substitution T A intron_variant RECA-EU 12 112785451 112785451 single base substitution A G intron_variant RECA-EU 12 112787902 112787902 single base substitution G A intron_variant RECA-EU 12 112790096 112790096 single base substitution T C intron_variant RECA-EU 12 112793465 112793465 single base substitution G T intron_variant RECA-EU 12 112801546 112801546 single base substitution C T intron_variant RECA-EU 12 112803268 112803268 single base substitution A T intron_variant SKCA-BR 12 112596575 112596575 single base substitution A G downstream_gene_variant SKCA-BR 12 112596845 112596845 single base substitution A C downstream_gene_variant SKCA-BR 12 112598299 112598299 single base substitution G A 3_prime_UTR_variant SKCA-BR 12 112598299 112598299 single base substitution G A downstream_gene_variant SKCA-BR 12 112598299 112598299 single base substitution G A exon_variant SKCA-BR 12 112598300 112598300 single base substitution G A 3_prime_UTR_variant SKCA-BR 12 112598300 112598300 single base substitution G A downstream_gene_variant SKCA-BR 12 112598300 112598300 single base substitution G A exon_variant SKCA-BR 12 112601358 112601358 single base substitution G A downstream_gene_variant SKCA-BR 12 112601358 112601358 single base substitution G A exon_variant SKCA-BR 12 112601358 112601358 single base substitution G A synonymous_variant L3873L 11619C>T SKCA-BR 12 112601358 112601358 single base substitution G A synonymous_variant L4123L 12369C>T SKCA-BR 12 112601358 112601358 single base substitution G A synonymous_variant L4149L 12447C>T SKCA-BR 12 112601358 112601358 single base substitution G A upstream_gene_variant SKCA-BR 12 112601607 112601607 single base substitution C T downstream_gene_variant SKCA-BR 12 112601607 112601607 single base substitution C T intron_variant SKCA-BR 12 112601607 112601607 single base substitution C T upstream_gene_variant SKCA-BR 12 112603967 112603967 single base substitution G A downstream_gene_variant SKCA-BR 12 112603967 112603967 single base substitution G A intron_variant SKCA-BR 12 112603967 112603967 single base substitution G A upstream_gene_variant SKCA-BR 12 112603968 112603968 single base substitution G A downstream_gene_variant SKCA-BR 12 112603968 112603968 single base substitution G A intron_variant SKCA-BR 12 112603968 112603968 single base substitution G A upstream_gene_variant SKCA-BR 12 112605691 112605691 single base substitution A C downstream_gene_variant SKCA-BR 12 112605691 112605691 single base substitution A C exon_variant SKCA-BR 12 112605691 112605691 single base substitution A C missense_variant V3658G 10973T>G SKCA-BR 12 112605691 112605691 single base substitution A C missense_variant V3908G 11723T>G SKCA-BR 12 112605691 112605691 single base substitution A C missense_variant V3934G 11801T>G SKCA-BR 12 112605691 112605691 single base substitution A C upstream_gene_variant SKCA-BR 12 112605711 112605711 single base substitution G A downstream_gene_variant SKCA-BR 12 112605711 112605711 single base substitution G A exon_variant SKCA-BR 12 112605711 112605711 single base substitution G A synonymous_variant F3651F 10953C>T SKCA-BR 12 112605711 112605711 single base substitution G A synonymous_variant F3901F 11703C>T SKCA-BR 12 112605711 112605711 single base substitution G A synonymous_variant F3927F 11781C>T SKCA-BR 12 112605711 112605711 single base substitution G A upstream_gene_variant SKCA-BR 12 112609642 112609642 single base substitution G A intron_variant SKCA-BR 12 112609642 112609642 single base substitution G A upstream_gene_variant SKCA-BR 12 112612287 112612287 single base substitution A C intron_variant SKCA-BR 12 112612287 112612287 single base substitution A C upstream_gene_variant SKCA-BR 12 112618358 112618358 single base substitution C A intron_variant SKCA-BR 12 112618358 112618358 single base substitution C A upstream_gene_variant SKCA-BR 12 112620188 112620189 deletion of <=200bp TA - intron_variant SKCA-BR 12 112622248 112622248 single base substitution A G missense_variant S3086P 9256T>C SKCA-BR 12 112622248 112622248 single base substitution A G missense_variant S3336P 10006T>C SKCA-BR 12 112622248 112622248 single base substitution A G missense_variant S3362P 10084T>C SKCA-BR 12 112624133 112624133 single base substitution A T intron_variant SKCA-BR 12 112626458 112626458 single base substitution G A intron_variant SKCA-BR 12 112628220 112628220 single base substitution G A downstream_gene_variant SKCA-BR 12 112628220 112628220 single base substitution G A intron_variant SKCA-BR 12 112630125 112630125 single base substitution G A downstream_gene_variant SKCA-BR 12 112630125 112630125 single base substitution G A intron_variant SKCA-BR 12 112634504 112634504 single base substitution C T intron_variant SKCA-BR 12 112637981 112637981 single base substitution G A downstream_gene_variant SKCA-BR 12 112637981 112637981 single base substitution G A intron_variant SKCA-BR 12 112641508 112641508 single base substitution G A exon_variant SKCA-BR 12 112641508 112641508 single base substitution G A missense_variant P2358S 7072C>T SKCA-BR 12 112641508 112641508 single base substitution G A missense_variant P2608S 7822C>T SKCA-BR 12 112641508 112641508 single base substitution G A missense_variant P2634S 7900C>T SKCA-BR 12 112641508 112641508 single base substitution G A upstream_gene_variant SKCA-BR 12 112642164 112642164 single base substitution G A intron_variant SKCA-BR 12 112642164 112642164 single base substitution G A upstream_gene_variant SKCA-BR 12 112642926 112642926 single base substitution G A intron_variant SKCA-BR 12 112642926 112642926 single base substitution G A upstream_gene_variant SKCA-BR 12 112643165 112643165 single base substitution G A intron_variant SKCA-BR 12 112643165 112643165 single base substitution G A upstream_gene_variant SKCA-BR 12 112651503 112651505 deletion of <=200bp CAT - downstream_gene_variant SKCA-BR 12 112651503 112651505 deletion of <=200bp CAT - intron_variant SKCA-BR 12 112652681 112652681 single base substitution G A downstream_gene_variant SKCA-BR 12 112652681 112652681 single base substitution G A intron_variant SKCA-BR 12 112652864 112652864 single base substitution G A downstream_gene_variant SKCA-BR 12 112652864 112652864 single base substitution G A intron_variant SKCA-BR 12 112652894 112652894 single base substitution T G downstream_gene_variant SKCA-BR 12 112652894 112652894 single base substitution T G intron_variant SKCA-BR 12 112654622 112654622 single base substitution C T downstream_gene_variant SKCA-BR 12 112654622 112654622 single base substitution C T exon_variant SKCA-BR 12 112654622 112654622 single base substitution C T missense_variant R2025Q 6074G>A SKCA-BR 12 112654622 112654622 single base substitution C T missense_variant R2275Q 6824G>A SKCA-BR 12 112654622 112654622 single base substitution C T missense_variant R2301Q 6902G>A SKCA-BR 12 112655104 112655104 insertion of <=200bp - TAC intron_variant SKCA-BR 12 112655712 112655712 single base substitution C T intron_variant SKCA-BR 12 112656980 112656980 single base substitution T A intron_variant SKCA-BR 12 112658750 112658750 single base substitution C G intron_variant SKCA-BR 12 112658750 112658750 single base substitution C G upstream_gene_variant SKCA-BR 12 112659454 112659454 single base substitution G A downstream_gene_variant SKCA-BR 12 112659454 112659454 single base substitution G A intron_variant SKCA-BR 12 112659454 112659454 single base substitution G A upstream_gene_variant SKCA-BR 12 112663090 112663090 single base substitution T A downstream_gene_variant SKCA-BR 12 112663090 112663090 single base substitution T A intron_variant SKCA-BR 12 112666007 112666007 single base substitution G A exon_variant SKCA-BR 12 112666007 112666007 single base substitution G A missense_variant S1825F 5474C>T SKCA-BR 12 112666007 112666007 single base substitution G A missense_variant S2075F 6224C>T SKCA-BR 12 112666007 112666007 single base substitution G A missense_variant S2101F 6302C>T SKCA-BR 12 112666007 112666007 single base substitution G A upstream_gene_variant SKCA-BR 12 112668610 112668610 single base substitution G A exon_variant SKCA-BR 12 112668610 112668610 single base substitution G A missense_variant P1651S 4951C>T SKCA-BR 12 112668610 112668610 single base substitution G A missense_variant P1901S 5701C>T SKCA-BR 12 112668610 112668610 single base substitution G A missense_variant P1927S 5779C>T SKCA-BR 12 112668610 112668610 single base substitution G A upstream_gene_variant SKCA-BR 12 112670193 112670193 single base substitution C T intron_variant SKCA-BR 12 112670193 112670193 single base substitution C T upstream_gene_variant SKCA-BR 12 112672145 112672145 single base substitution A C intron_variant SKCA-BR 12 112672145 112672145 single base substitution A C upstream_gene_variant SKCA-BR 12 112677445 112677445 single base substitution C T intron_variant SKCA-BR 12 112681273 112681273 single base substitution T C synonymous_variant G1192G 3576A>G SKCA-BR 12 112681273 112681273 single base substitution T C synonymous_variant G1442G 4326A>G SKCA-BR 12 112681273 112681273 single base substitution T C synonymous_variant G1468G 4404A>G SKCA-BR 12 112684006 112684006 single base substitution G A downstream_gene_variant SKCA-BR 12 112684006 112684006 single base substitution G A intron_variant SKCA-BR 12 112687056 112687056 single base substitution G C downstream_gene_variant SKCA-BR 12 112687056 112687056 single base substitution G C intron_variant SKCA-BR 12 112693841 112693841 single base substitution G A downstream_gene_variant SKCA-BR 12 112693841 112693841 single base substitution G A intron_variant SKCA-BR 12 112694133 112694133 single base substitution G A downstream_gene_variant SKCA-BR 12 112694133 112694133 single base substitution G A exon_variant SKCA-BR 12 112694133 112694133 single base substitution G A synonymous_variant D674D 2022C>T SKCA-BR 12 112694133 112694133 single base substitution G A synonymous_variant D924D 2772C>T SKCA-BR 12 112694133 112694133 single base substitution G A synonymous_variant D960D 2880C>T SKCA-BR 12 112695994 112695995 deletion of <=200bp GA - downstream_gene_variant SKCA-BR 12 112695994 112695995 deletion of <=200bp GA - intron_variant SKCA-BR 12 112696283 112696283 single base substitution G A exon_variant SKCA-BR 12 112696283 112696283 single base substitution G A intron_variant SKCA-BR 12 112701511 112701511 insertion of <=200bp - TTA downstream_gene_variant SKCA-BR 12 112701511 112701511 insertion of <=200bp - TTA intron_variant SKCA-BR 12 112701511 112701511 insertion of <=200bp - TTA upstream_gene_variant SKCA-BR 12 112702008 112702008 single base substitution G A downstream_gene_variant SKCA-BR 12 112702008 112702008 single base substitution G A exon_variant SKCA-BR 12 112702008 112702008 single base substitution G A synonymous_variant S444S 1332C>T SKCA-BR 12 112702008 112702008 single base substitution G A synonymous_variant S694S 2082C>T SKCA-BR 12 112702008 112702008 single base substitution G A synonymous_variant S732S 2196C>T SKCA-BR 12 112702008 112702008 single base substitution G A upstream_gene_variant SKCA-BR 12 112708365 112708365 single base substitution G A intron_variant SKCA-BR 12 112709526 112709526 single base substitution T G intron_variant SKCA-BR 12 112712614 112712614 single base substitution G A intron_variant SKCA-BR 12 112712614 112712614 single base substitution G A upstream_gene_variant SKCA-BR 12 112713423 112713423 insertion of <=200bp - CATAT intron_variant SKCA-BR 12 112713423 112713423 insertion of <=200bp - CATAT upstream_gene_variant SKCA-BR 12 112716230 112716230 single base substitution C T intron_variant SKCA-BR 12 112716230 112716230 single base substitution C T upstream_gene_variant SKCA-BR 12 112717282 112717282 single base substitution C T intron_variant SKCA-BR 12 112718588 112718589 deletion of <=200bp CT - intron_variant SKCA-BR 12 112718588 112718590 deletion of <=200bp CTT - intron_variant SKCA-BR 12 112718714 112718714 single base substitution C T intron_variant SKCA-BR 12 112722316 112722316 single base substitution G A intron_variant SKCA-BR 12 112724501 112724501 single base substitution G A intron_variant SKCA-BR 12 112729550 112729550 single base substitution C T intron_variant SKCA-BR 12 112730617 112730617 single base substitution G A intron_variant SKCA-BR 12 112730958 112730958 single base substitution T G intron_variant SKCA-BR 12 112731461 112731461 single base substitution G A intron_variant SKCA-BR 12 112733626 112733626 insertion of <=200bp - TAC intron_variant SKCA-BR 12 112733941 112733941 single base substitution G A intron_variant SKCA-BR 12 112734411 112734411 single base substitution A G intron_variant SKCA-BR 12 112734744 112734744 single base substitution C G intron_variant SKCA-BR 12 112734820 112734820 single base substitution C T intron_variant SKCA-BR 12 112736010 112736010 single base substitution G A intron_variant SKCA-BR 12 112736284 112736284 insertion of <=200bp - AT intron_variant SKCA-BR 12 112738111 112738111 insertion of <=200bp - CA intron_variant SKCA-BR 12 112741452 112741452 single base substitution G A intron_variant SKCA-BR 12 112741666 112741667 deletion of <=200bp TA - intron_variant SKCA-BR 12 112743256 112743256 single base substitution A C intron_variant SKCA-BR 12 112744306 112744306 single base substitution G A intron_variant SKCA-BR 12 112747458 112747458 single base substitution C T 5_prime_UTR_variant SKCA-BR 12 112747458 112747458 single base substitution C T intron_variant SKCA-BR 12 112747458 112747458 single base substitution C T missense_variant R167H 500G>A SKCA-BR 12 112754518 112754518 single base substitution G A intron_variant SKCA-BR 12 112755187 112755187 single base substitution G A intron_variant SKCA-BR 12 112755786 112755786 single base substitution A G intron_variant SKCA-BR 12 112759927 112759927 single base substitution G A intron_variant SKCA-BR 12 112761765 112761785 deletion of <=200bp TCTTTCTTCCTTCCTTCCTTC - intron_variant SKCA-BR 12 112761841 112761857 deletion of <=200bp CCTTCCTTCCTTTCTTT - intron_variant SKCA-BR 12 112765914 112765922 deletion of <=200bp CTATTTATT - intron_variant SKCA-BR 12 112765964 112765964 single base substitution A G intron_variant SKCA-BR 12 112767119 112767119 single base substitution G A intron_variant SKCA-BR 12 112767174 112767174 single base substitution G T intron_variant SKCA-BR 12 112767174 112767175 deletion of <=200bp GT - intron_variant SKCA-BR 12 112767752 112767753 deletion of <=200bp CT - intron_variant SKCA-BR 12 112772030 112772030 single base substitution A C intron_variant SKCA-BR 12 112774959 112774959 single base substitution C T intron_variant SKCA-BR 12 112775696 112775696 single base substitution G A intron_variant SKCA-BR 12 112777361 112777361 single base substitution G A intron_variant SKCA-BR 12 112779854 112779854 single base substitution T C intron_variant SKCA-BR 12 112791408 112791408 single base substitution T G intron_variant SKCA-BR 12 112794069 112794069 single base substitution G A intron_variant SKCA-BR 12 112796986 112796986 single base substitution C A intron_variant SKCA-BR 12 112800310 112800310 single base substitution G A intron_variant SKCA-BR 12 112801204 112801204 single base substitution G A intron_variant SKCA-BR 12 112801379 112801379 single base substitution G A intron_variant SKCA-BR 12 112802220 112802220 single base substitution A T intron_variant SKCA-BR 12 112805097 112805097 single base substitution G C intron_variant SKCA-BR 12 112805304 112805304 single base substitution G A intron_variant SKCA-BR 12 112805779 112805779 single base substitution G A intron_variant SKCA-BR 12 112818172 112818172 single base substitution C T intron_variant SKCA-BR 12 112818173 112818173 single base substitution C T intron_variant SKCA-BR 12 112820818 112820818 single base substitution C G upstream_gene_variant SKCA-BR 12 112821408 112821408 single base substitution A G upstream_gene_variant SKCA-BR 12 112821918 112821918 single base substitution G A upstream_gene_variant SKCM-US 12 112600322 112600322 single base substitution G A downstream_gene_variant SKCM-US 12 112600322 112600322 single base substitution G A missense_variant P3954S 11860C>T SKCM-US 12 112600322 112600322 single base substitution G A missense_variant P4204S 12610C>T SKCM-US 12 112600322 112600322 single base substitution G A missense_variant P4230S 12688C>T SKCM-US 12 112600322 112600322 single base substitution G A upstream_gene_variant SKCM-US 12 112600860 112600860 deletion of <=200bp G - downstream_gene_variant SKCM-US 12 112600860 112600860 deletion of <=200bp G - exon_variant SKCM-US 12 112600860 112600860 deletion of <=200bp G - frameshift_variant P3947 SKCM-US 12 112600860 112600860 deletion of <=200bp G - frameshift_variant P4197 SKCM-US 12 112600860 112600860 deletion of <=200bp G - frameshift_variant P4223 SKCM-US 12 112600860 112600860 deletion of <=200bp G - upstream_gene_variant SKCM-US 12 112600868 112600868 single base substitution G A downstream_gene_variant SKCM-US 12 112600868 112600868 single base substitution G A exon_variant SKCM-US 12 112600868 112600868 single base substitution G A synonymous_variant I3944I 11832C>T SKCM-US 12 112600868 112600868 single base substitution G A synonymous_variant I4194I 12582C>T SKCM-US 12 112600868 112600868 single base substitution G A synonymous_variant I4220I 12660C>T SKCM-US 12 112600868 112600868 single base substitution G A upstream_gene_variant SKCM-US 12 112607316 112607316 single base substitution G A downstream_gene_variant SKCM-US 12 112607316 112607316 single base substitution G A exon_variant SKCM-US 12 112607316 112607316 single base substitution G A missense_variant H3645Y 10933C>T SKCM-US 12 112607316 112607316 single base substitution G A missense_variant H3895Y 11683C>T SKCM-US 12 112607316 112607316 single base substitution G A missense_variant H3921Y 11761C>T SKCM-US 12 112607316 112607316 single base substitution G A upstream_gene_variant SKCM-US 12 112608218 112608218 single base substitution G A downstream_gene_variant SKCM-US 12 112608218 112608218 single base substitution G A stop_gained R3569* 10705C>T SKCM-US 12 112608218 112608218 single base substitution G A stop_gained R3819* 11455C>T SKCM-US 12 112608218 112608218 single base substitution G A stop_gained R3845* 11533C>T SKCM-US 12 112608218 112608218 single base substitution G A upstream_gene_variant SKCM-US 12 112608237 112608237 single base substitution C T downstream_gene_variant SKCM-US 12 112608237 112608237 single base substitution C T synonymous_variant T3562T 10686G>A SKCM-US 12 112608237 112608237 single base substitution C T synonymous_variant T3812T 11436G>A SKCM-US 12 112608237 112608237 single base substitution C T synonymous_variant T3838T 11514G>A SKCM-US 12 112608237 112608237 single base substitution C T upstream_gene_variant SKCM-US 12 112608926 112608926 single base substitution G A missense_variant A216V 647C>T SKCM-US 12 112608926 112608926 single base substitution G A missense_variant A3554V 10661C>T SKCM-US 12 112608926 112608926 single base substitution G A missense_variant A3804V 11411C>T SKCM-US 12 112608926 112608926 single base substitution G A missense_variant A3830V 11489C>T SKCM-US 12 112608926 112608926 single base substitution G A upstream_gene_variant SKCM-US 12 112610513 112610513 single base substitution G A missense_variant P128L 383C>T SKCM-US 12 112610513 112610513 single base substitution G A missense_variant P3494L 10481C>T SKCM-US 12 112610513 112610513 single base substitution G A missense_variant P3744L 11231C>T SKCM-US 12 112610513 112610513 single base substitution G A missense_variant P3770L 11309C>T SKCM-US 12 112610513 112610513 single base substitution G A upstream_gene_variant SKCM-US 12 112614442 112614442 single base substitution C T missense_variant D22N 64G>A SKCM-US 12 112614442 112614442 single base substitution C T missense_variant D3388N 10162G>A SKCM-US 12 112614442 112614442 single base substitution C T missense_variant D3638N 10912G>A SKCM-US 12 112614442 112614442 single base substitution C T missense_variant D3664N 10990G>A SKCM-US 12 112616802 112616802 single base substitution C A missense_variant V3344L 10030G>T SKCM-US 12 112616802 112616802 single base substitution C A missense_variant V3594L 10780G>T SKCM-US 12 112616802 112616802 single base substitution C A missense_variant V3620L 10858G>T SKCM-US 12 112616802 112616802 single base substitution C A upstream_gene_variant SKCM-US 12 112616865 112616865 single base substitution G A missense_variant P3323S 9967C>T SKCM-US 12 112616865 112616865 single base substitution G A missense_variant P3573S 10717C>T SKCM-US 12 112616865 112616865 single base substitution G A missense_variant P3599S 10795C>T SKCM-US 12 112616865 112616865 single base substitution G A upstream_gene_variant SKCM-US 12 112622260 112622260 single base substitution C T missense_variant V3082I 9244G>A SKCM-US 12 112622260 112622260 single base substitution C T missense_variant V3332I 9994G>A SKCM-US 12 112622260 112622260 single base substitution C T missense_variant V3358I 10072G>A SKCM-US 12 112622317 112622317 single base substitution C T missense_variant A3063T 9187G>A SKCM-US 12 112622317 112622317 single base substitution C T missense_variant A3313T 9937G>A SKCM-US 12 112622317 112622317 single base substitution C T missense_variant A3339T 10015G>A SKCM-US 12 112622378 112622378 single base substitution G A synonymous_variant P3042P 9126C>T SKCM-US 12 112622378 112622378 single base substitution G A synonymous_variant P3292P 9876C>T SKCM-US 12 112622378 112622378 single base substitution G A synonymous_variant P3318P 9954C>T SKCM-US 12 112622448 112622448 single base substitution G A missense_variant T3019I 9056C>T SKCM-US 12 112622448 112622448 single base substitution G A missense_variant T3269I 9806C>T SKCM-US 12 112622448 112622448 single base substitution G A missense_variant T3295I 9884C>T SKCM-US 12 112622519 112622519 single base substitution G A synonymous_variant I2995I 8985C>T SKCM-US 12 112622519 112622519 single base substitution G A synonymous_variant I3245I 9735C>T SKCM-US 12 112622519 112622519 single base substitution G A synonymous_variant I3271I 9813C>T SKCM-US 12 112622558 112622558 single base substitution G A synonymous_variant I2982I 8946C>T SKCM-US 12 112622558 112622558 single base substitution G A synonymous_variant I3232I 9696C>T SKCM-US 12 112622558 112622558 single base substitution G A synonymous_variant I3258I 9774C>T SKCM-US 12 112622727 112622727 single base substitution G A missense_variant P2926L 8777C>T SKCM-US 12 112622727 112622727 single base substitution G A missense_variant P3176L 9527C>T SKCM-US 12 112622727 112622727 single base substitution G A missense_variant P3202L 9605C>T SKCM-US 12 112622799 112622799 single base substitution G A missense_variant S2902L 8705C>T SKCM-US 12 112622799 112622799 single base substitution G A missense_variant S3152L 9455C>T SKCM-US 12 112622799 112622799 single base substitution G A missense_variant S3178L 9533C>T SKCM-US 12 112622883 112622885 deletion of <=200bp GAG - disruptive_inframe_deletion SS2873S SKCM-US 12 112622883 112622885 deletion of <=200bp GAG - disruptive_inframe_deletion SS3123S SKCM-US 12 112622883 112622885 deletion of <=200bp GAG - disruptive_inframe_deletion SS3149S SKCM-US 12 112630426 112630426 single base substitution G A downstream_gene_variant SKCM-US 12 112630426 112630426 single base substitution G A missense_variant P2655L 7964C>T SKCM-US 12 112630426 112630426 single base substitution G A missense_variant P2905L 8714C>T SKCM-US 12 112630426 112630426 single base substitution G A missense_variant P2931L 8792C>T SKCM-US 12 112632753 112632753 single base substitution G A downstream_gene_variant SKCM-US 12 112632753 112632753 single base substitution G A synonymous_variant I2473I 7419C>T SKCM-US 12 112632753 112632753 single base substitution G A synonymous_variant I2723I 8169C>T SKCM-US 12 112632753 112632753 single base substitution G A synonymous_variant I2749I 8247C>T SKCM-US 12 112638535 112638535 single base substitution G A downstream_gene_variant SKCM-US 12 112638535 112638535 single base substitution G A exon_variant SKCM-US 12 112638535 112638535 single base substitution G A missense_variant P2403L 7208C>T SKCM-US 12 112638535 112638535 single base substitution G A missense_variant P2653L 7958C>T SKCM-US 12 112638535 112638535 single base substitution G A missense_variant P2679L 8036C>T SKCM-US 12 112645736 112645736 single base substitution G A exon_variant SKCM-US 12 112645736 112645736 single base substitution G A synonymous_variant F2269F 6807C>T SKCM-US 12 112645736 112645736 single base substitution G A synonymous_variant F2519F 7557C>T SKCM-US 12 112645736 112645736 single base substitution G A synonymous_variant F2545F 7635C>T SKCM-US 12 112645751 112645751 single base substitution G A exon_variant SKCM-US 12 112645751 112645751 single base substitution G A synonymous_variant T2264T 6792C>T SKCM-US 12 112645751 112645751 single base substitution G A synonymous_variant T2514T 7542C>T SKCM-US 12 112645751 112645751 single base substitution G A synonymous_variant T2540T 7620C>T SKCM-US 12 112646369 112646369 single base substitution C T exon_variant SKCM-US 12 112646369 112646369 single base substitution C T missense_variant G2223S 6667G>A SKCM-US 12 112646369 112646369 single base substitution C T missense_variant G2473S 7417G>A SKCM-US 12 112646369 112646369 single base substitution C T missense_variant G2499S 7495G>A SKCM-US 12 112646400 112646400 single base substitution G A exon_variant SKCM-US 12 112646400 112646400 single base substitution G A synonymous_variant V2212V 6636C>T SKCM-US 12 112646400 112646400 single base substitution G A synonymous_variant V2462V 7386C>T SKCM-US 12 112646400 112646400 single base substitution G A synonymous_variant V2488V 7464C>T SKCM-US 12 112647993 112647993 single base substitution G A exon_variant SKCM-US 12 112647993 112647993 single base substitution G A missense_variant R2143C 6427C>T SKCM-US 12 112647993 112647993 single base substitution G A missense_variant R2393C 7177C>T SKCM-US 12 112647993 112647993 single base substitution G A missense_variant R2419C 7255C>T SKCM-US 12 112648045 112648045 single base substitution G A exon_variant SKCM-US 12 112648045 112648045 single base substitution G A synonymous_variant T2125T 6375C>T SKCM-US 12 112648045 112648045 single base substitution G A synonymous_variant T2375T 7125C>T SKCM-US 12 112648045 112648045 single base substitution G A synonymous_variant T2401T 7203C>T SKCM-US 12 112648052 112648052 single base substitution G A exon_variant SKCM-US 12 112648052 112648052 single base substitution G A missense_variant T2123I 6368C>T SKCM-US 12 112648052 112648052 single base substitution G A missense_variant T2373I 7118C>T SKCM-US 12 112648052 112648052 single base substitution G A missense_variant T2399I 7196C>T SKCM-US 12 112650372 112650372 single base substitution G A downstream_gene_variant SKCM-US 12 112650372 112650372 single base substitution G A exon_variant SKCM-US 12 112650372 112650372 single base substitution G A synonymous_variant F2094F 6282C>T SKCM-US 12 112650372 112650372 single base substitution G A synonymous_variant F2344F 7032C>T SKCM-US 12 112650372 112650372 single base substitution G A synonymous_variant F2370F 7110C>T SKCM-US 12 112650407 112650407 single base substitution G A downstream_gene_variant SKCM-US 12 112650407 112650407 single base substitution G A exon_variant SKCM-US 12 112650407 112650407 single base substitution G A missense_variant P2083S 6247C>T SKCM-US 12 112650407 112650407 single base substitution G A missense_variant P2333S 6997C>T SKCM-US 12 112650407 112650407 single base substitution G A missense_variant P2359S 7075C>T SKCM-US 12 112650418 112650418 single base substitution C T downstream_gene_variant SKCM-US 12 112650418 112650418 single base substitution C T exon_variant SKCM-US 12 112650418 112650418 single base substitution C T missense_variant G2079E 6236G>A SKCM-US 12 112650418 112650418 single base substitution C T missense_variant G2329E 6986G>A SKCM-US 12 112650418 112650418 single base substitution C T missense_variant G2355E 7064G>A SKCM-US 12 112654696 112654696 single base substitution G A exon_variant SKCM-US 12 112654696 112654696 single base substitution G A synonymous_variant I2000I 6000C>T SKCM-US 12 112654696 112654696 single base substitution G A synonymous_variant I2250I 6750C>T SKCM-US 12 112654696 112654696 single base substitution G A synonymous_variant I2276I 6828C>T SKCM-US 12 112654721 112654721 single base substitution G A exon_variant SKCM-US 12 112654721 112654721 single base substitution G A missense_variant P1992L 5975C>T SKCM-US 12 112654721 112654721 single base substitution G A missense_variant P2242L 6725C>T SKCM-US 12 112654721 112654721 single base substitution G A missense_variant P2268L 6803C>T SKCM-US 12 112666033 112666033 single base substitution A G exon_variant SKCM-US 12 112666033 112666033 single base substitution A G synonymous_variant T1816T 5448T>C SKCM-US 12 112666033 112666033 single base substitution A G synonymous_variant T2066T 6198T>C SKCM-US 12 112666033 112666033 single base substitution A G synonymous_variant T2092T 6276T>C SKCM-US 12 112666033 112666033 single base substitution A G upstream_gene_variant SKCM-US 12 112667565 112667565 single base substitution G A exon_variant SKCM-US 12 112667565 112667565 single base substitution G A synonymous_variant A1730A 5190C>T SKCM-US 12 112667565 112667565 single base substitution G A synonymous_variant A1980A 5940C>T SKCM-US 12 112667565 112667565 single base substitution G A synonymous_variant A2006A 6018C>T SKCM-US 12 112667565 112667565 single base substitution G A upstream_gene_variant SKCM-US 12 112669444 112669444 single base substitution G A missense_variant L1603F 4807C>T SKCM-US 12 112669444 112669444 single base substitution G A missense_variant L1853F 5557C>T SKCM-US 12 112669444 112669444 single base substitution G A missense_variant L1879F 5635C>T SKCM-US 12 112669444 112669444 single base substitution G A upstream_gene_variant SKCM-US 12 112672931 112672931 single base substitution G A synonymous_variant I1533I 4599C>T SKCM-US 12 112672931 112672931 single base substitution G A synonymous_variant I1783I 5349C>T SKCM-US 12 112672931 112672931 single base substitution G A synonymous_variant I1809I 5427C>T SKCM-US 12 112672931 112672931 single base substitution G A upstream_gene_variant SKCM-US 12 112672959 112672959 single base substitution G A missense_variant A1524V 4571C>T SKCM-US 12 112672959 112672959 single base substitution G A missense_variant A1774V 5321C>T SKCM-US 12 112672959 112672959 single base substitution G A missense_variant A1800V 5399C>T SKCM-US 12 112672959 112672959 single base substitution G A upstream_gene_variant SKCM-US 12 112673321 112673321 single base substitution A T missense_variant D1482E 4446T>A SKCM-US 12 112673321 112673321 single base substitution A T missense_variant D1732E 5196T>A SKCM-US 12 112673321 112673321 single base substitution A T missense_variant D1758E 5274T>A SKCM-US 12 112673321 112673321 single base substitution A T upstream_gene_variant SKCM-US 12 112673402 112673402 single base substitution G A synonymous_variant V1455V 4365C>T SKCM-US 12 112673402 112673402 single base substitution G A synonymous_variant V1705V 5115C>T SKCM-US 12 112673402 112673402 single base substitution G A synonymous_variant V1731V 5193C>T SKCM-US 12 112673402 112673402 single base substitution G A upstream_gene_variant SKCM-US 12 112674890 112674890 single base substitution T A missense_variant E1346V 4037A>T SKCM-US 12 112674890 112674890 single base substitution T A missense_variant E1596V 4787A>T SKCM-US 12 112674890 112674890 single base substitution T A missense_variant E1622V 4865A>T SKCM-US 12 112676911 112676911 single base substitution G A synonymous_variant A1323A 3969C>T SKCM-US 12 112676911 112676911 single base substitution G A synonymous_variant A1573A 4719C>T SKCM-US 12 112676911 112676911 single base substitution G A synonymous_variant A1599A 4797C>T SKCM-US 12 112676998 112676998 single base substitution G A synonymous_variant L1294L 3882C>T SKCM-US 12 112676998 112676998 single base substitution G A synonymous_variant L1544L 4632C>T SKCM-US 12 112676998 112676998 single base substitution G A synonymous_variant L1570L 4710C>T SKCM-US 12 112677020 112677020 single base substitution A G missense_variant V1287A 3860T>C SKCM-US 12 112677020 112677020 single base substitution A G missense_variant V1537A 4610T>C SKCM-US 12 112677020 112677020 single base substitution A G missense_variant V1563A 4688T>C SKCM-US 12 112677814 112677814 single base substitution C T missense_variant C1237Y 3710G>A SKCM-US 12 112677814 112677814 single base substitution C T missense_variant C1487Y 4460G>A SKCM-US 12 112677814 112677814 single base substitution C T missense_variant C1513Y 4538G>A SKCM-US 12 112684754 112684754 single base substitution G A downstream_gene_variant SKCM-US 12 112684754 112684754 single base substitution G A synonymous_variant A1066A 3198C>T SKCM-US 12 112684754 112684754 single base substitution G A synonymous_variant A1316A 3948C>T SKCM-US 12 112684754 112684754 single base substitution G A synonymous_variant A1342A 4026C>T SKCM-US 12 112686220 112686220 single base substitution G A downstream_gene_variant SKCM-US 12 112686220 112686220 single base substitution G A synonymous_variant F1177F 3531C>T SKCM-US 12 112686220 112686220 single base substitution G A synonymous_variant F1203F 3609C>T SKCM-US 12 112686220 112686220 single base substitution G A synonymous_variant F927F 2781C>T SKCM-US 12 112688077 112688077 single base substitution G A exon_variant SKCM-US 12 112688077 112688077 single base substitution G A missense_variant P1102L 3305C>T SKCM-US 12 112688077 112688077 single base substitution G A missense_variant P1128L 3383C>T SKCM-US 12 112688077 112688077 single base substitution G A missense_variant P852L 2555C>T SKCM-US 12 112690352 112690352 single base substitution G A intron_variant SKCM-US 12 112690352 112690352 single base substitution G A missense_variant P721L 2162C>T SKCM-US 12 112690352 112690352 single base substitution G A missense_variant P971L 2912C>T SKCM-US 12 112691863 112691863 single base substitution G A downstream_gene_variant SKCM-US 12 112691863 112691863 single base substitution G A exon_variant SKCM-US 12 112691863 112691863 single base substitution G A missense_variant P712L 2135C>T SKCM-US 12 112691863 112691863 single base substitution G A missense_variant P962L 2885C>T SKCM-US 12 112691863 112691863 single base substitution G A missense_variant P998L 2993C>T SKCM-US 12 112691908 112691908 single base substitution T C downstream_gene_variant SKCM-US 12 112691908 112691908 single base substitution T C exon_variant SKCM-US 12 112691908 112691908 single base substitution T C missense_variant N697S 2090A>G SKCM-US 12 112691908 112691908 single base substitution T C missense_variant N947S 2840A>G SKCM-US 12 112691908 112691908 single base substitution T C missense_variant N983S 2948A>G SKCM-US 12 112699194 112699194 single base substitution G A downstream_gene_variant SKCM-US 12 112699194 112699194 single base substitution G A exon_variant SKCM-US 12 112699194 112699194 single base substitution G A synonymous_variant L498L 1492C>T SKCM-US 12 112699194 112699194 single base substitution G A synonymous_variant L748L 2242C>T SKCM-US 12 112699194 112699194 single base substitution G A synonymous_variant L784L 2350C>T SKCM-US 12 112707633 112707633 single base substitution G A 5_prime_UTR_variant SKCM-US 12 112707633 112707633 single base substitution G A exon_variant SKCM-US 12 112707633 112707633 single base substitution G A synonymous_variant F300F 900C>T SKCM-US 12 112707633 112707633 single base substitution G A synonymous_variant F550F 1650C>T SKCM-US 12 112707633 112707633 single base substitution G A synonymous_variant F588F 1764C>T SKCM-US 12 112744000 112744000 single base substitution G A intron_variant SKCM-US 12 112744000 112744000 single base substitution G A synonymous_variant P257P 771C>T SKCM-US 12 112744000 112744000 single base substitution G A synonymous_variant P7P 21C>T STAD-US 12 112600860 112600860 insertion of <=200bp - G downstream_gene_variant STAD-US 12 112600860 112600860 insertion of <=200bp - G exon_variant STAD-US 12 112600860 112600860 insertion of <=200bp - G frameshift_variant P3947P? STAD-US 12 112600860 112600860 insertion of <=200bp - G frameshift_variant P4197P? STAD-US 12 112600860 112600860 insertion of <=200bp - G frameshift_variant P4223P? STAD-US 12 112600860 112600860 insertion of <=200bp - G upstream_gene_variant STAD-US 12 112600915 112600915 single base substitution C G downstream_gene_variant STAD-US 12 112600915 112600915 single base substitution C G exon_variant STAD-US 12 112600915 112600915 single base substitution C G missense_variant D3929H 11785G>C STAD-US 12 112600915 112600915 single base substitution C G missense_variant D4179H 12535G>C STAD-US 12 112600915 112600915 single base substitution C G missense_variant D4205H 12613G>C STAD-US 12 112600915 112600915 single base substitution C G upstream_gene_variant STAD-US 12 112607396 112607396 single base substitution G A downstream_gene_variant STAD-US 12 112607396 112607396 single base substitution G A exon_variant STAD-US 12 112607396 112607396 single base substitution G A missense_variant S3618L 10853C>T STAD-US 12 112607396 112607396 single base substitution G A missense_variant S3868L 11603C>T STAD-US 12 112607396 112607396 single base substitution G A missense_variant S3894L 11681C>T STAD-US 12 112607396 112607396 single base substitution G A upstream_gene_variant STAD-US 12 112608179 112608179 single base substitution C T downstream_gene_variant STAD-US 12 112608179 112608179 single base substitution C T missense_variant A3582T 10744G>A STAD-US 12 112608179 112608179 single base substitution C T missense_variant A3832T 11494G>A STAD-US 12 112608179 112608179 single base substitution C T missense_variant A3858T 11572G>A STAD-US 12 112608179 112608179 single base substitution C T upstream_gene_variant STAD-US 12 112610662 112610662 single base substitution G A synonymous_variant C3444C 10332C>T STAD-US 12 112610662 112610662 single base substitution G A synonymous_variant C3694C 11082C>T STAD-US 12 112610662 112610662 single base substitution G A synonymous_variant C3720C 11160C>T STAD-US 12 112610662 112610662 single base substitution G A synonymous_variant C78C 234C>T STAD-US 12 112610662 112610662 single base substitution G A upstream_gene_variant STAD-US 12 112621028 112621028 single base substitution A T missense_variant F3186I 9556T>A STAD-US 12 112621028 112621028 single base substitution A T missense_variant F3436I 10306T>A STAD-US 12 112621028 112621028 single base substitution A T missense_variant F3462I 10384T>A STAD-US 12 112622112 112622120 deletion of <=200bp CCCAGGCTG - disruptive_inframe_deletion GSLG3128G STAD-US 12 112622112 112622120 deletion of <=200bp CCCAGGCTG - disruptive_inframe_deletion GSLG3378G STAD-US 12 112622112 112622120 deletion of <=200bp CCCAGGCTG - disruptive_inframe_deletion GSLG3404G STAD-US 12 112622701 112622701 single base substitution C T missense_variant A2935T 8803G>A STAD-US 12 112622701 112622701 single base substitution C T missense_variant A3185T 9553G>A STAD-US 12 112622701 112622701 single base substitution C T missense_variant A3211T 9631G>A STAD-US 12 112622703 112622703 single base substitution C T missense_variant R2934H 8801G>A STAD-US 12 112622703 112622703 single base substitution C T missense_variant R3184H 9551G>A STAD-US 12 112622703 112622703 single base substitution C T missense_variant R3210H 9629G>A STAD-US 12 112622719 112622719 single base substitution T C missense_variant M2929V 8785A>G STAD-US 12 112622719 112622719 single base substitution T C missense_variant M3179V 9535A>G STAD-US 12 112622719 112622719 single base substitution T C missense_variant M3205V 9613A>G STAD-US 12 112630521 112630521 single base substitution G A downstream_gene_variant STAD-US 12 112630521 112630521 single base substitution G A synonymous_variant L2623L 7869C>T STAD-US 12 112630521 112630521 single base substitution G A synonymous_variant L2873L 8619C>T STAD-US 12 112630521 112630521 single base substitution G A synonymous_variant L2899L 8697C>T STAD-US 12 112630954 112630954 single base substitution G A downstream_gene_variant STAD-US 12 112630954 112630954 single base substitution G A synonymous_variant S2577S 7731C>T STAD-US 12 112630954 112630954 single base substitution G A synonymous_variant S2827S 8481C>T STAD-US 12 112630954 112630954 single base substitution G A synonymous_variant S2853S 8559C>T STAD-US 12 112632704 112632704 single base substitution C T downstream_gene_variant STAD-US 12 112632704 112632704 single base substitution C T missense_variant A2490T 7468G>A STAD-US 12 112632704 112632704 single base substitution C T missense_variant A2740T 8218G>A STAD-US 12 112632704 112632704 single base substitution C T missense_variant A2766T 8296G>A STAD-US 12 112638474 112638474 single base substitution G A downstream_gene_variant STAD-US 12 112638474 112638474 single base substitution G A exon_variant STAD-US 12 112638474 112638474 single base substitution G A synonymous_variant V2423V 7269C>T STAD-US 12 112638474 112638474 single base substitution G A synonymous_variant V2673V 8019C>T STAD-US 12 112638474 112638474 single base substitution G A synonymous_variant V2699V 8097C>T STAD-US 12 112647918 112647918 single base substitution C T exon_variant STAD-US 12 112647918 112647918 single base substitution C T missense_variant A2168T 6502G>A STAD-US 12 112647918 112647918 single base substitution C T missense_variant A2418T 7252G>A STAD-US 12 112647918 112647918 single base substitution C T missense_variant A2444T 7330G>A STAD-US 12 112650367 112650367 single base substitution T C downstream_gene_variant STAD-US 12 112650367 112650367 single base substitution T C exon_variant STAD-US 12 112650367 112650367 single base substitution T C missense_variant Y2096C 6287A>G STAD-US 12 112650367 112650367 single base substitution T C missense_variant Y2346C 7037A>G STAD-US 12 112650367 112650367 single base substitution T C missense_variant Y2372C 7115A>G STAD-US 12 112650376 112650376 single base substitution T C downstream_gene_variant STAD-US 12 112650376 112650376 single base substitution T C exon_variant STAD-US 12 112650376 112650376 single base substitution T C missense_variant Y2093C 6278A>G STAD-US 12 112650376 112650376 single base substitution T C missense_variant Y2343C 7028A>G STAD-US 12 112650376 112650376 single base substitution T C missense_variant Y2369C 7106A>G STAD-US 12 112650388 112650388 single base substitution T C downstream_gene_variant STAD-US 12 112650388 112650388 single base substitution T C exon_variant STAD-US 12 112650388 112650388 single base substitution T C missense_variant K2089R 6266A>G STAD-US 12 112650388 112650388 single base substitution T C missense_variant K2339R 7016A>G STAD-US 12 112650388 112650388 single base substitution T C missense_variant K2365R 7094A>G STAD-US 12 112657288 112657288 single base substitution G A exon_variant STAD-US 12 112657288 112657288 single base substitution G A stop_gained R1904* 5710C>T STAD-US 12 112657288 112657288 single base substitution G A stop_gained R2154* 6460C>T STAD-US 12 112657288 112657288 single base substitution G A stop_gained R2180* 6538C>T STAD-US 12 112667572 112667572 single base substitution C T exon_variant STAD-US 12 112667572 112667572 single base substitution C T missense_variant R1728H 5183G>A STAD-US 12 112667572 112667572 single base substitution C T missense_variant R1978H 5933G>A STAD-US 12 112667572 112667572 single base substitution C T missense_variant R2004H 6011G>A STAD-US 12 112667572 112667572 single base substitution C T upstream_gene_variant STAD-US 12 112667668 112667668 single base substitution A C exon_variant STAD-US 12 112667668 112667668 single base substitution A C missense_variant L1696R 5087T>G STAD-US 12 112667668 112667668 single base substitution A C missense_variant L1946R 5837T>G STAD-US 12 112667668 112667668 single base substitution A C missense_variant L1972R 5915T>G STAD-US 12 112667668 112667668 single base substitution A C upstream_gene_variant STAD-US 12 112668612 112668612 single base substitution C T exon_variant STAD-US 12 112668612 112668612 single base substitution C T missense_variant R1650H 4949G>A STAD-US 12 112668612 112668612 single base substitution C T missense_variant R1900H 5699G>A STAD-US 12 112668612 112668612 single base substitution C T missense_variant R1926H 5777G>A STAD-US 12 112668612 112668612 single base substitution C T upstream_gene_variant STAD-US 12 112669482 112669482 single base substitution G A missense_variant A1590V 4769C>T STAD-US 12 112669482 112669482 single base substitution G A missense_variant A1840V 5519C>T STAD-US 12 112669482 112669482 single base substitution G A missense_variant A1866V 5597C>T STAD-US 12 112669482 112669482 single base substitution G A upstream_gene_variant STAD-US 12 112673511 112673511 single base substitution G T missense_variant P1419Q 4256C>A STAD-US 12 112673511 112673511 single base substitution G T missense_variant P1669Q 5006C>A STAD-US 12 112673511 112673511 single base substitution G T missense_variant P1695Q 5084C>A STAD-US 12 112673511 112673511 single base substitution G T upstream_gene_variant STAD-US 12 112674831 112674831 single base substitution G A stop_gained R1366* 4096C>T STAD-US 12 112674831 112674831 single base substitution G A stop_gained R1616* 4846C>T STAD-US 12 112674831 112674831 single base substitution G A stop_gained R1642* 4924C>T STAD-US 12 112681278 112681278 single base substitution G A missense_variant R1191W 3571C>T STAD-US 12 112681278 112681278 single base substitution G A missense_variant R1441W 4321C>T STAD-US 12 112681278 112681278 single base substitution G A missense_variant R1467W 4399C>T STAD-US 12 112681729 112681729 single base substitution T G missense_variant D1111A 3332A>C STAD-US 12 112681729 112681729 single base substitution T G missense_variant D1361A 4082A>C STAD-US 12 112681729 112681729 single base substitution T G missense_variant D1387A 4160A>C STAD-US 12 112685929 112685929 single base substitution G A downstream_gene_variant STAD-US 12 112685929 112685929 single base substitution G A missense_variant A1225V 3674C>T STAD-US 12 112685929 112685929 single base substitution G A missense_variant A1251V 3752C>T STAD-US 12 112685929 112685929 single base substitution G A missense_variant A975V 2924C>T STAD-US 12 112688019 112688019 single base substitution C T exon_variant STAD-US 12 112688019 112688019 single base substitution C T synonymous_variant L1121L 3363G>A STAD-US 12 112688019 112688019 single base substitution C T synonymous_variant L1147L 3441G>A STAD-US 12 112688019 112688019 single base substitution C T synonymous_variant L871L 2613G>A STAD-US 12 112688056 112688056 single base substitution G T exon_variant STAD-US 12 112688056 112688056 single base substitution G T missense_variant P1109H 3326C>A STAD-US 12 112688056 112688056 single base substitution G T missense_variant P1135H 3404C>A STAD-US 12 112688056 112688056 single base substitution G T missense_variant P859H 2576C>A STAD-US 12 112690240 112690240 single base substitution T C exon_variant STAD-US 12 112690240 112690240 single base substitution T C synonymous_variant T1008T 3024A>G STAD-US 12 112690240 112690240 single base substitution T C synonymous_variant T1034T 3102A>G STAD-US 12 112690240 112690240 single base substitution T C synonymous_variant T758T 2274A>G STAD-US 12 112690349 112690349 deletion of <=200bp G - frameshift_variant P722 STAD-US 12 112690349 112690349 deletion of <=200bp G - frameshift_variant P972 STAD-US 12 112690349 112690349 deletion of <=200bp G - intron_variant STAD-US 12 112690349 112690349 insertion of <=200bp - G frameshift_variant P722P? STAD-US 12 112690349 112690349 insertion of <=200bp - G frameshift_variant P972P? STAD-US 12 112690349 112690349 insertion of <=200bp - G intron_variant STAD-US 12 112691953 112691953 single base substitution G A downstream_gene_variant STAD-US 12 112691953 112691953 single base substitution G A exon_variant STAD-US 12 112691953 112691953 single base substitution G A missense_variant A682V 2045C>T STAD-US 12 112691953 112691953 single base substitution G A missense_variant A932V 2795C>T STAD-US 12 112691953 112691953 single base substitution G A missense_variant A968V 2903C>T STAD-US 12 112696395 112696395 single base substitution C T exon_variant STAD-US 12 112696395 112696395 single base substitution C T synonymous_variant A579A 1737G>A STAD-US 12 112696395 112696395 single base substitution C T synonymous_variant A829A 2487G>A STAD-US 12 112696395 112696395 single base substitution C T synonymous_variant A865A 2595G>A STAD-US 12 112707608 112707608 single base substitution C T 5_prime_UTR_variant STAD-US 12 112707608 112707608 single base substitution C T exon_variant STAD-US 12 112707608 112707608 single base substitution C T missense_variant D309N 925G>A STAD-US 12 112707608 112707608 single base substitution C T missense_variant D559N 1675G>A STAD-US 12 112707608 112707608 single base substitution C T missense_variant D597N 1789G>A STAD-US 12 112708191 112708191 single base substitution A T exon_variant STAD-US 12 112708191 112708191 single base substitution A T intron_variant STAD-US 12 112708191 112708191 single base substitution A T missense_variant L240H 719T>A STAD-US 12 112708191 112708191 single base substitution A T missense_variant L490H 1469T>A STAD-US 12 112708191 112708191 single base substitution A T missense_variant L528H 1583T>A STAD-US 12 112711476 112711476 single base substitution A C exon_variant STAD-US 12 112711476 112711476 single base substitution A C intron_variant STAD-US 12 112711476 112711476 single base substitution A C missense_variant I210S 629T>G STAD-US 12 112711476 112711476 single base substitution A C missense_variant I460S 1379T>G STAD-US 12 112711476 112711476 single base substitution A C missense_variant I498S 1493T>G STAD-US 12 112711506 112711506 single base substitution T G exon_variant STAD-US 12 112711506 112711506 single base substitution T G intron_variant STAD-US 12 112711506 112711506 single base substitution T G missense_variant Y200S 599A>C STAD-US 12 112711506 112711506 single base substitution T G missense_variant Y450S 1349A>C STAD-US 12 112711506 112711506 single base substitution T G missense_variant Y488S 1463A>C STAD-US 12 112711519 112711519 single base substitution G C exon_variant STAD-US 12 112711519 112711519 single base substitution G C intron_variant STAD-US 12 112711519 112711519 single base substitution G C missense_variant Q196E 586C>G STAD-US 12 112711519 112711519 single base substitution G C missense_variant Q446E 1336C>G STAD-US 12 112711519 112711519 single base substitution G C missense_variant Q484E 1450C>G STAD-US 12 112717172 112717172 single base substitution A G intron_variant STAD-US 12 112717172 112717172 single base substitution A G missense_variant L122P 365T>C STAD-US 12 112717172 112717172 single base substitution A G missense_variant L372P 1115T>C STAD-US 12 112721041 112721041 single base substitution G A intron_variant STAD-US 12 112721041 112721041 single base substitution G A synonymous_variant G323G 969C>T STAD-US 12 112721041 112721041 single base substitution G A synonymous_variant G73G 219C>T THCA-US 12 112701951 112701951 single base substitution C T downstream_gene_variant THCA-US 12 112701951 112701951 single base substitution C T exon_variant THCA-US 12 112701951 112701951 single base substitution C T synonymous_variant L463L 1389G>A THCA-US 12 112701951 112701951 single base substitution C T synonymous_variant L713L 2139G>A THCA-US 12 112701951 112701951 single base substitution C T synonymous_variant L751L 2253G>A THCA-US 12 112701951 112701951 single base substitution C T upstream_gene_variant UCEC-US 12 112600232 112600232 single base substitution G A downstream_gene_variant UCEC-US 12 112600232 112600232 single base substitution G A missense_variant R3984C 11950C>T UCEC-US 12 112600232 112600232 single base substitution G A missense_variant R4234C 12700C>T UCEC-US 12 112600232 112600232 single base substitution G A missense_variant R4260C 12778C>T UCEC-US 12 112600232 112600232 single base substitution G A upstream_gene_variant UCEC-US 12 112600888 112600888 single base substitution G A downstream_gene_variant UCEC-US 12 112600888 112600888 single base substitution G A exon_variant UCEC-US 12 112600888 112600888 single base substitution G A missense_variant P3938S 11812C>T UCEC-US 12 112600888 112600888 single base substitution G A missense_variant P4188S 12562C>T UCEC-US 12 112600888 112600888 single base substitution G A missense_variant P4214S 12640C>T UCEC-US 12 112600888 112600888 single base substitution G A upstream_gene_variant UCEC-US 12 112601047 112601047 single base substitution C A downstream_gene_variant UCEC-US 12 112601047 112601047 single base substitution C A exon_variant UCEC-US 12 112601047 112601047 single base substitution C A missense_variant G3885W 11653G>T UCEC-US 12 112601047 112601047 single base substitution C A missense_variant G4135W 12403G>T UCEC-US 12 112601047 112601047 single base substitution C A missense_variant G4161W 12481G>T UCEC-US 12 112601047 112601047 single base substitution C A upstream_gene_variant UCEC-US 12 112605307 112605307 single base substitution G A downstream_gene_variant UCEC-US 12 112605307 112605307 single base substitution G A exon_variant UCEC-US 12 112605307 112605307 single base substitution G A synonymous_variant Y3694Y 11082C>T UCEC-US 12 112605307 112605307 single base substitution G A synonymous_variant Y3944Y 11832C>T UCEC-US 12 112605307 112605307 single base substitution G A synonymous_variant Y3970Y 11910C>T UCEC-US 12 112607326 112607326 single base substitution G A downstream_gene_variant UCEC-US 12 112607326 112607326 single base substitution G A exon_variant UCEC-US 12 112607326 112607326 single base substitution G A synonymous_variant G3641G 10923C>T UCEC-US 12 112607326 112607326 single base substitution G A synonymous_variant G3891G 11673C>T UCEC-US 12 112607326 112607326 single base substitution G A synonymous_variant G3917G 11751C>T UCEC-US 12 112607326 112607326 single base substitution G A upstream_gene_variant UCEC-US 12 112608942 112608942 single base substitution C T missense_variant A211T 631G>A UCEC-US 12 112608942 112608942 single base substitution C T missense_variant A3549T 10645G>A UCEC-US 12 112608942 112608942 single base substitution C T missense_variant A3799T 11395G>A UCEC-US 12 112608942 112608942 single base substitution C T missense_variant A3825T 11473G>A UCEC-US 12 112608942 112608942 single base substitution C T upstream_gene_variant UCEC-US 12 112610511 112610511 single base substitution C T missense_variant A129T 385G>A UCEC-US 12 112610511 112610511 single base substitution C T missense_variant A3495T 10483G>A UCEC-US 12 112610511 112610511 single base substitution C T missense_variant A3745T 11233G>A UCEC-US 12 112610511 112610511 single base substitution C T missense_variant A3771T 11311G>A UCEC-US 12 112610511 112610511 single base substitution C T upstream_gene_variant UCEC-US 12 112613637 112613637 single base substitution C G missense_variant E3411Q 10231G>C UCEC-US 12 112613637 112613637 single base substitution C G missense_variant E3661Q 10981G>C UCEC-US 12 112613637 112613637 single base substitution C G missense_variant E3687Q 11059G>C UCEC-US 12 112613637 112613637 single base substitution C G missense_variant E45Q 133G>C UCEC-US 12 112616818 112616818 single base substitution C T synonymous_variant E3338E 10014G>A UCEC-US 12 112616818 112616818 single base substitution C T synonymous_variant E3588E 10764G>A UCEC-US 12 112616818 112616818 single base substitution C T synonymous_variant E3614E 10842G>A UCEC-US 12 112616818 112616818 single base substitution C T upstream_gene_variant UCEC-US 12 112616970 112616970 single base substitution G A splice_region_variant UCEC-US 12 112616970 112616970 single base substitution G A upstream_gene_variant UCEC-US 12 112617082 112617082 single base substitution G A missense_variant L3281F 9841C>T UCEC-US 12 112617082 112617082 single base substitution G A missense_variant L3531F 10591C>T UCEC-US 12 112617082 112617082 single base substitution G A missense_variant L3557F 10669C>T UCEC-US 12 112617082 112617082 single base substitution G A upstream_gene_variant UCEC-US 12 112617164 112617164 single base substitution C T synonymous_variant T3253T 9759G>A UCEC-US 12 112617164 112617164 single base substitution C T synonymous_variant T3503T 10509G>A UCEC-US 12 112617164 112617164 single base substitution C T synonymous_variant T3529T 10587G>A UCEC-US 12 112617164 112617164 single base substitution C T upstream_gene_variant UCEC-US 12 112620882 112620882 single base substitution G A synonymous_variant F3234F 9702C>T UCEC-US 12 112620882 112620882 single base substitution G A synonymous_variant F3484F 10452C>T UCEC-US 12 112620882 112620882 single base substitution G A synonymous_variant F3510F 10530C>T UCEC-US 12 112622300 112622300 single base substitution G A synonymous_variant S3068S 9204C>T UCEC-US 12 112622300 112622300 single base substitution G A synonymous_variant S3318S 9954C>T UCEC-US 12 112622300 112622300 single base substitution G A synonymous_variant S3344S 10032C>T UCEC-US 12 112622425 112622425 single base substitution C T missense_variant E3027K 9079G>A UCEC-US 12 112622425 112622425 single base substitution C T missense_variant E3277K 9829G>A UCEC-US 12 112622425 112622425 single base substitution C T missense_variant E3303K 9907G>A UCEC-US 12 112623014 112623014 single base substitution C T synonymous_variant T2830T 8490G>A UCEC-US 12 112623014 112623014 single base substitution C T synonymous_variant T3080T 9240G>A UCEC-US 12 112623014 112623014 single base substitution C T synonymous_variant T3106T 9318G>A UCEC-US 12 112628631 112628631 single base substitution G A downstream_gene_variant UCEC-US 12 112628631 112628631 single base substitution G A missense_variant T2722I 8165C>T UCEC-US 12 112628631 112628631 single base substitution G A missense_variant T2972I 8915C>T UCEC-US 12 112628631 112628631 single base substitution G A missense_variant T2998I 8993C>T UCEC-US 12 112628763 112628763 single base substitution G C downstream_gene_variant UCEC-US 12 112628763 112628763 single base substitution G C missense_variant S2678C 8033C>G UCEC-US 12 112628763 112628763 single base substitution G C missense_variant S2928C 8783C>G UCEC-US 12 112628763 112628763 single base substitution G C missense_variant S2954C 8861C>G UCEC-US 12 112630871 112630871 single base substitution C T downstream_gene_variant UCEC-US 12 112630871 112630871 single base substitution C T missense_variant R2605H 7814G>A UCEC-US 12 112630871 112630871 single base substitution C T missense_variant R2855H 8564G>A UCEC-US 12 112630871 112630871 single base substitution C T missense_variant R2881H 8642G>A UCEC-US 12 112631398 112631398 single base substitution C A downstream_gene_variant UCEC-US 12 112631398 112631398 single base substitution C A missense_variant D2522Y 7564G>T UCEC-US 12 112631398 112631398 single base substitution C A missense_variant D2772Y 8314G>T UCEC-US 12 112631398 112631398 single base substitution C A missense_variant D2798Y 8392G>T UCEC-US 12 112645713 112645713 single base substitution G A exon_variant UCEC-US 12 112645713 112645713 single base substitution G A missense_variant S2277L 6830C>T UCEC-US 12 112645713 112645713 single base substitution G A missense_variant S2527L 7580C>T UCEC-US 12 112645713 112645713 single base substitution G A missense_variant S2553L 7658C>T UCEC-US 12 112645741 112645741 single base substitution G A exon_variant UCEC-US 12 112645741 112645741 single base substitution G A missense_variant R2268C 6802C>T UCEC-US 12 112645741 112645741 single base substitution G A missense_variant R2518C 7552C>T UCEC-US 12 112645741 112645741 single base substitution G A missense_variant R2544C 7630C>T UCEC-US 12 112646399 112646399 single base substitution C G exon_variant UCEC-US 12 112646399 112646399 single base substitution C G missense_variant E2213Q 6637G>C UCEC-US 12 112646399 112646399 single base substitution C G missense_variant E2463Q 7387G>C UCEC-US 12 112646399 112646399 single base substitution C G missense_variant E2489Q 7465G>C UCEC-US 12 112655000 112655000 single base substitution C T splice_acceptor_variant UCEC-US 12 112657288 112657288 single base substitution G A exon_variant UCEC-US 12 112657288 112657288 single base substitution G A stop_gained R1904* 5710C>T UCEC-US 12 112657288 112657288 single base substitution G A stop_gained R2154* 6460C>T UCEC-US 12 112657288 112657288 single base substitution G A stop_gained R2180* 6538C>T UCEC-US 12 112666017 112666017 single base substitution C T exon_variant UCEC-US 12 112666017 112666017 single base substitution C T missense_variant A1822T 5464G>A UCEC-US 12 112666017 112666017 single base substitution C T missense_variant A2072T 6214G>A UCEC-US 12 112666017 112666017 single base substitution C T missense_variant A2098T 6292G>A UCEC-US 12 112666017 112666017 single base substitution C T upstream_gene_variant UCEC-US 12 112668575 112668575 single base substitution A G exon_variant UCEC-US 12 112668575 112668575 single base substitution A G synonymous_variant A1662A 4986T>C UCEC-US 12 112668575 112668575 single base substitution A G synonymous_variant A1912A 5736T>C UCEC-US 12 112668575 112668575 single base substitution A G synonymous_variant A1938A 5814T>C UCEC-US 12 112668575 112668575 single base substitution A G upstream_gene_variant UCEC-US 12 112669329 112669329 single base substitution G A missense_variant S1641L 4922C>T UCEC-US 12 112669329 112669329 single base substitution G A missense_variant S1891L 5672C>T UCEC-US 12 112669329 112669329 single base substitution G A missense_variant S1917L 5750C>T UCEC-US 12 112669329 112669329 single base substitution G A upstream_gene_variant UCEC-US 12 112669480 112669480 single base substitution C T missense_variant A1591T 4771G>A UCEC-US 12 112669480 112669480 single base substitution C T missense_variant A1841T 5521G>A UCEC-US 12 112669480 112669480 single base substitution C T missense_variant A1867T 5599G>A UCEC-US 12 112669480 112669480 single base substitution C T upstream_gene_variant UCEC-US 12 112673310 112673310 deletion of <=200bp G - frameshift_variant P1486 UCEC-US 12 112673310 112673310 deletion of <=200bp G - frameshift_variant P1736 UCEC-US 12 112673310 112673310 deletion of <=200bp G - frameshift_variant P1762 UCEC-US 12 112673310 112673310 deletion of <=200bp G - upstream_gene_variant UCEC-US 12 112673321 112673321 single base substitution A C missense_variant D1482E 4446T>G UCEC-US 12 112673321 112673321 single base substitution A C missense_variant D1732E 5196T>G UCEC-US 12 112673321 112673321 single base substitution A C missense_variant D1758E 5274T>G UCEC-US 12 112673321 112673321 single base substitution A C upstream_gene_variant UCEC-US 12 112673466 112673466 single base substitution G A missense_variant A1434V 4301C>T UCEC-US 12 112673466 112673466 single base substitution G A missense_variant A1684V 5051C>T UCEC-US 12 112673466 112673466 single base substitution G A missense_variant A1710V 5129C>T UCEC-US 12 112673466 112673466 single base substitution G A upstream_gene_variant UCEC-US 12 112674831 112674831 single base substitution G A stop_gained R1366* 4096C>T UCEC-US 12 112674831 112674831 single base substitution G A stop_gained R1616* 4846C>T UCEC-US 12 112674831 112674831 single base substitution G A stop_gained R1642* 4924C>T UCEC-US 12 112677783 112677783 single base substitution G T synonymous_variant A1247A 3741C>A UCEC-US 12 112677783 112677783 single base substitution G T synonymous_variant A1497A 4491C>A UCEC-US 12 112677783 112677783 single base substitution G T synonymous_variant A1523A 4569C>A UCEC-US 12 112681181 112681181 single base substitution G A missense_variant T1223M 3668C>T UCEC-US 12 112681181 112681181 single base substitution G A missense_variant T1473M 4418C>T UCEC-US 12 112681181 112681181 single base substitution G A missense_variant T1499M 4496C>T UCEC-US 12 112681281 112681281 single base substitution G A missense_variant R1190W 3568C>T UCEC-US 12 112681281 112681281 single base substitution G A missense_variant R1440W 4318C>T UCEC-US 12 112681281 112681281 single base substitution G A missense_variant R1466W 4396C>T UCEC-US 12 112684854 112684854 single base substitution G T downstream_gene_variant UCEC-US 12 112684854 112684854 single base substitution G T missense_variant S1033Y 3098C>A UCEC-US 12 112684854 112684854 single base substitution G T missense_variant S1283Y 3848C>A UCEC-US 12 112684854 112684854 single base substitution G T missense_variant S1309Y 3926C>A UCEC-US 12 112686222 112686222 single base substitution A C downstream_gene_variant UCEC-US 12 112686222 112686222 single base substitution A C missense_variant F1177V 3529T>G UCEC-US 12 112686222 112686222 single base substitution A C missense_variant F1203V 3607T>G UCEC-US 12 112686222 112686222 single base substitution A C missense_variant F927V 2779T>G UCEC-US 12 112688153 112688153 single base substitution C T exon_variant UCEC-US 12 112688153 112688153 single base substitution C T missense_variant V1077M 3229G>A UCEC-US 12 112688153 112688153 single base substitution C T missense_variant V1103M 3307G>A UCEC-US 12 112688153 112688153 single base substitution C T missense_variant V827M 2479G>A UCEC-US 12 112688837 112688837 single base substitution T C exon_variant UCEC-US 12 112688837 112688837 single base substitution T C synonymous_variant G1046G 3138A>G UCEC-US 12 112688837 112688837 single base substitution T C synonymous_variant G1072G 3216A>G UCEC-US 12 112688837 112688837 single base substitution T C synonymous_variant G796G 2388A>G UCEC-US 12 112690234 112690234 single base substitution G A exon_variant UCEC-US 12 112690234 112690234 single base substitution G A synonymous_variant R1010R 3030C>T UCEC-US 12 112690234 112690234 single base substitution G A synonymous_variant R1036R 3108C>T UCEC-US 12 112690234 112690234 single base substitution G A synonymous_variant R760R 2280C>T UCEC-US 12 112691858 112691858 single base substitution C A downstream_gene_variant UCEC-US 12 112691858 112691858 single base substitution C A exon_variant UCEC-US 12 112691858 112691858 single base substitution C A missense_variant D1000Y 2998G>T UCEC-US 12 112691858 112691858 single base substitution C A missense_variant D714Y 2140G>T UCEC-US 12 112691858 112691858 single base substitution C A missense_variant D964Y 2890G>T UCEC-US 12 112691862 112691862 single base substitution C T downstream_gene_variant UCEC-US 12 112691862 112691862 single base substitution C T exon_variant UCEC-US 12 112691862 112691862 single base substitution C T synonymous_variant P712P 2136G>A UCEC-US 12 112691862 112691862 single base substitution C T synonymous_variant P962P 2886G>A UCEC-US 12 112691862 112691862 single base substitution C T synonymous_variant P998P 2994G>A UCEC-US 12 112694253 112694253 single base substitution T C downstream_gene_variant UCEC-US 12 112694253 112694253 single base substitution T C exon_variant UCEC-US 12 112694253 112694253 single base substitution T C synonymous_variant G634G 1902A>G UCEC-US 12 112694253 112694253 single base substitution T C synonymous_variant G884G 2652A>G UCEC-US 12 112694253 112694253 single base substitution T C synonymous_variant G920G 2760A>G UCEC-US 12 112697034 112697034 single base substitution A G exon_variant UCEC-US 12 112697034 112697034 single base substitution A G missense_variant M538T 1613T>C UCEC-US 12 112697034 112697034 single base substitution A G missense_variant M788T 2363T>C UCEC-US 12 112697034 112697034 single base substitution A G missense_variant M824T 2471T>C UCEC-US 12 112702994 112702994 single base substitution G C downstream_gene_variant UCEC-US 12 112702994 112702994 single base substitution G C exon_variant UCEC-US 12 112702994 112702994 single base substitution G C synonymous_variant L436L 1308C>G UCEC-US 12 112702994 112702994 single base substitution G C synonymous_variant L686L 2058C>G UCEC-US 12 112702994 112702994 single base substitution G C synonymous_variant L724L 2172C>G UCEC-US 12 112702994 112702994 single base substitution G C upstream_gene_variant UCEC-US 12 112703077 112703077 single base substitution A G downstream_gene_variant UCEC-US 12 112703077 112703077 single base substitution A G exon_variant UCEC-US 12 112703077 112703077 single base substitution A G missense_variant Y409H 1225T>C UCEC-US 12 112703077 112703077 single base substitution A G missense_variant Y659H 1975T>C UCEC-US 12 112703077 112703077 single base substitution A G missense_variant Y697H 2089T>C UCEC-US 12 112703077 112703077 single base substitution A G upstream_gene_variant UCEC-US 12 112708042 112708042 single base substitution C T exon_variant UCEC-US 12 112708042 112708042 single base substitution C T intron_variant UCEC-US 12 112708042 112708042 single base substitution C T missense_variant V290I 868G>A UCEC-US 12 112708042 112708042 single base substitution C T missense_variant V540I 1618G>A UCEC-US 12 112708042 112708042 single base substitution C T missense_variant V578I 1732G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand 41T COSM1948209 c.11224G>A p.E3742K Substitution - Missense 12:112167361-112167361 - TCGA-FR-A3YN-06 COSM3456185 c.8777C>T p.P2926L Substitution - Missense 12:112184923-112184923 - 6115234 COSM5552058 c.8884G>T p.D2962Y Substitution - Missense 12:112184816-112184816 - SW48 COSM1948350 c.8458delG p.A2820fs*26 Deletion - Frameshift 12:112185242-112185242 - TCGA-BH-A1ET-01 COSM430362 c.2653C>T p.R885C Substitution - Missense 12:112250175-112250175 - TCGA-CC-A7IH-01 COSM4924400 c.2438A>T p.K813I Substitution - Missense 12:112250983-112250983 - ESCC_45 COSM5630268 c.5504C>G p.S1835C Substitution - Missense 12:112228173-112228173 - 1N28-VS-1T28 COSM4973744 c.1044G>C p.L348F Substitution - Missense 12:112266964-112266964 - TCGA-AO-A0J5-01 COSM1476135 c.11840_11841insC p.D3948fs*44 Insertion - Frameshift 12:112163055-112163056 - TCGA-B6-A1KF-01 COSM1476139 c.1342C>A p.R448S Substitution - Missense 12:112264194-112264194 - TCGA-F5-6814-01 COSM3416496 c.6992A>C p.K2331T Substitution - Missense 12:112204497-112204497 - 2521262 COSM5892169 c.1882C>T p.P628S Substitution - Missense 12:112256469-112256469 - TCGA-BR-8680-01 COSM4038873 c.219C>T p.G73G Substitution - coding silent 12:112283237-112283237 - OSCC-GB_00320111 COSM3710679 c.9855G>C p.Q3285H Substitution - Missense 12:112179264-112179264 - PTC-14C COSM1605588 c.2465T>G p.V822G Substitution - Missense 12:112250363-112250363 - TCGA-D1-A16Y-01 COSM935186 c.9841C>T p.L3281F Substitution - Missense 12:112179278-112179278 - TCGA-CA-6717-01 COSM1358872 c.2825A>C p.K942T Substitution - Missense 12:112248372-112248372 - OSCC-GB_00740111 COSM4890944 c.11788G>C p.G3930R Substitution - Missense 12:112163108-112163108 - Pat_73_B COSM5840149 c.11146C>T p.P3716S Substitution - Missense 12:112167439-112167439 - N-Thy009 COSM5095274 c.9944A>C p.Q3315P Substitution - Missense 12:112179175-112179175 - HCC168 COSM1948441 c.6504A>G p.A2168A Substitution - coding silent 12:112210112-112210112 - TCGA-04-1331-01 COSM120122 c.10755G>T p.E3585D Substitution - Missense 12:112170364-112170364 - UD-SCC-2 COSM1605588 c.2465T>G p.V822G Substitution - Missense 12:112250363-112250363 - TCGA-A6-4105-01 COSM5087649 c.647-4C>G p.? Unknown 12:112270463-112270463 - Pat_06_B COSM4666735 c.11014_11016delCTG p.L3672delL Deletion - In frame 12:112167844-112167846 - SNU-C1 COSM4203342 c.2482A>T p.I828F Substitution - Missense 12:112250346-112250346 - TCGA-D5-6540-01 COSM1358838 c.10333G>A p.A3445T Substitution - Missense 12:112172857-112172857 - SCC-15 COSM1605580 c.9166A>C p.T3056P Substitution - Missense 12:112184534-112184534 - TCGA-06-0140-01 COSM3398364 c.220G>A p.E74K Substitution - Missense 12:112283236-112283236 - TCGA-AA-3864-01 COSM5114390 c.8764G>A p.G2922R Substitution - Missense 12:112184936-112184936 - CSCC-16-T COSM4454300 c.3725A>C p.E1242A Substitution - Missense 12:112239995-112239995 - TCGA-C4-A0F6-01 COSM416038 c.1991G>C p.R664T Substitution - Missense 12:112256360-112256360 - TCGA-BT-A20N-01 COSM416048 c.10987C>T p.Q3663* Substitution - Nonsense 12:112167873-112167873 - MD-146 COSM301793 c.1586G>T p.G529V Substitution - Missense 12:112259257-112259257 - WSU-HN30 COSM1605588 c.2465T>G p.V822G Substitution - Missense 12:112250363-112250363 - TCGA-BR-8678-01 COSM4038840 c.5183G>A p.R1728H Substitution - Missense 12:112229768-112229768 - LIM1899 COSM4639832 c.9765A>G p.I3255M Substitution - Missense 12:112179354-112179354 - Pat_53_B COSM5840163 c.2281G>A p.A761T Substitution - Missense 12:112252429-112252429 - TCGA-BR-8078-01 COSM4038853 c.2613G>A p.L871L Substitution - coding silent 12:112250215-112250215 - TCGA-WS-AB45-01 COSM5189749 c.11419C>T p.R3807W Substitution - Missense 12:112164125-112164125 - TCGA-BR-8682-01 COSM4038869 c.586C>G p.Q196E Substitution - Missense 12:112273715-112273715 - 2_PRE-TREATMENT COSM1721556 c.10963C>T p.L3655L Substitution - coding silent 12:112167897-112167897 - SC_9047 COSM5557138 c.199A>G p.I67V Substitution - Missense 12:112283257-112283257 - LS411 COSM1948366 c.8179G>A p.V2727I Substitution - Missense 12:112190813-112190813 - TCGA-AP-A059-01 COSM935228 c.4446T>G p.D1482E Substitution - Missense 12:112235517-112235517 - RK089_C01 COSM1628384 c.9563A>G p.N3188S Substitution - Missense 12:112183217-112183217 - QC2-18-T2 COSM5652616 c.10521C>T p.N3507N Substitution - coding silent 12:112171262-112171262 - 2492723 COSM5724147 c.1621C>T p.H541Y Substitution - Missense 12:112259222-112259222 - TCGA-QG-A5Z2-01 COSM1358824 c.11840delC p.P3947fs*21 Deletion - Frameshift 12:112163056-112163056 - TCGA-22-4601-01 COSM692052 c.2682A>G p.I894M Substitution - Missense 12:112250146-112250146 - LN18 COSM1948552 c.3327T>G p.P1109P Substitution - coding silent 12:112243930-112243930 - TCGA-BS-A0TE-01 COSM935190 c.9204C>T p.S3068S Substitution - coding silent 12:112184496-112184496 - TCGA-BR-8078-01 COSM4038822 c.8801G>A p.R2934H Substitution - Missense 12:112184899-112184899 - J80_T COSM3954199 c.7374G>A p.P2458P Substitution - coding silent 12:112194994-112194994 - UM-SCC-11B COSM1605588 c.2465T>G p.V822G Substitution - Missense 12:112250363-112250363 - 98 COSM5012623 c.3411C>A p.S1137R Substitution - Missense 12:112243734-112243734 - TCGA-AN-A04C-01 COSM1476135 c.11840_11841insC p.D3948fs*44 Insertion - Frameshift 12:112163055-112163056 - TCGA-QG-A5Z2-01 COSM1358850 c.8459C>T p.A2820V Substitution - Missense 12:112185241-112185241 - TCGA-G4-6588-01 COSM1358874 c.2165delC p.P722fs*3 Deletion - Frameshift 12:112252545-112252545 - CSCC-10-T COSM4524294 c.11785G>A p.D3929N Substitution - Missense 12:112163111-112163111 - T3202 COSM4666761 c.5378T>C p.L1793S Substitution - Missense 12:112228687-112228687 - TCGA-AA-3710-01 COSM5104738 c.4200C>T p.I1400I Substitution - coding silent 12:112235763-112235763 - TCGA-33-4566-01 COSM692046 c.105G>T p.E35D Substitution - Missense 12:112306112-112306112 - LP6007414-DNA_A02 COSM1948582 c.2654G>A p.R885H Substitution - Missense 12:112250174-112250174 - TCGA-B1-A47O-01 COSM4908340 c.11123G>A p.G3708E Substitution - Missense 12:112167462-112167462 - TCGA-BR-4184-01 COSM4038828 c.7468G>A p.A2490T Substitution - Missense 12:112194900-112194900 - TCGA-AA-3833-01 COSM5112244 c.9460C>G p.L3154V Substitution - Missense 12:112184240-112184240 - T3603 COSM4666773 c.1594C>A p.Q532K Substitution - Missense 12:112259249-112259249 - Pat_05_A COSM5840153 c.5858C>T p.A1953V Substitution - Missense 12:112217146-112217146 - PCSI_0128_Pa_P COSM3376121 c.6803G>A p.R2268H Substitution - Missense 12:112207936-112207936 - 2553_T COSM3954203 c.2803G>A p.E935K Substitution - Missense 12:112248394-112248394 - TCGA-B5-A0K2-01 COSM935224 c.4675C>A p.L1559I Substitution - Missense 12:112233060-112233060 - 115 COSM5012625 c.2634G>T p.K878N Substitution - Missense 12:112250194-112250194 - 2293782 COSM4608417 c.1132G>T p.V378L Substitution - Missense 12:112265948-112265948 - J63_T COSM3954189 c.11606C>T p.P3869L Substitution - Missense 12:112163567-112163567 - TCGA-AA-A010-01 COSM279261 c.2542G>T p.E848* Substitution - Nonsense 12:112250286-112250286 - TCGA-DU-5855-01 COSM3967989 c.9828C>G p.V3276V Substitution - coding silent 12:112179291-112179291 - TCGA-AA-3986-01 COSM297933 c.4869C>A p.S1623S Substitution - coding silent 12:112231578-112231578 - TCGA-CM-4746-01 COSM1358828 c.11797G>A p.D3933N Substitution - Missense 12:112163099-112163099 - TCGA-AG-A00Y-01 COSM5071912 c.2165_2166insC p.S723fs*5 Insertion - Frameshift 12:112252544-112252545 - BD72T COSM5512938 c.7943C>T p.A2648V Substitution - Missense 12:112192643-112192643 - TCGA-A6-2686-01 COSM5084407 c.10884C>T p.G3628G Substitution - coding silent 12:112169561-112169561 - 1517_PT COSM5753860 c.6643A>C p.S2215R Substitution - Missense 12:112208589-112208589 - SJRHB056 COSM3738315 c.2623A>G p.I875V Substitution - Missense 12:112250205-112250205 - TCGA-BR-7707-01 COSM4038867 c.599A>C p.Y200S Substitution - Missense 12:112273702-112273702 - PT37 COSM5920361 c.3307C>T p.L1103F Substitution - Missense 12:112243950-112243950 - WSU-HN8 COSM1605588 c.2465T>G p.V822G Substitution - Missense 12:112250363-112250363 - TCGA-AA-3864-01 COSM5114388 c.10427G>A p.R3476H Substitution - Missense 12:112172763-112172763 - TCGA-A2-A0T5-01 COSM3811056 c.5337A>C p.P1779P Substitution - coding silent 12:112228728-112228728 - TCGA-AF-2687-01 COSM1561835 c.11522G>A p.R3841Q Substitution - Missense 12:112163651-112163651 - TCGA-CK-5916-01 COSM3687849 c.7920T>C p.C2640C Substitution - coding silent 12:112192666-112192666 - TCGA-B0-4843-01 COSM3359545 c.10045C>T p.R3349W Substitution - Missense 12:112178983-112178983 - TCGA-EE-A20C-06 COSM3456187 c.8705C>T p.S2902L Substitution - Missense 12:112184995-112184995 - BD165T COSM1948534 c.3648G>A p.T1216T Substitution - coding silent 12:112243397-112243397 - AOCS-090-1-0 COSM1706295 c.2135C>T p.P712L Substitution - Missense 12:112254059-112254059 - HCC021T COSM5815438 c.770A>T p.K257M Substitution - Missense 12:112270336-112270336 - T2269 COSM4666733 c.11685C>A p.F3895L Substitution - Missense 12:112163211-112163211 - TCGA-G4-6588-01 COSM5178687 c.1731+6A>C p.? Unknown 12:112259106-112259106 - TCGA-AA-3495-01 COSM5097919 c.8309_8311delGGC p.R2770delR Deletion - In frame 12:112185389-112185391 - PT37 COSM5920363 c.135G>A p.M45I Substitution - Missense 12:112306082-112306082 - TCGA-IZ-8195-01 COSM3986642 c.4953C>T p.P1651P Substitution - coding silent 12:112230804-112230804 - PT48 COSM5932972 c.4345C>T p.P1449S Substitution - Missense 12:112235618-112235618 - RK220_C01 COSM1948493 c.4999G>A p.A1667T Substitution - Missense 12:112230758-112230758 - PCSI_0090_Pa_X COSM3376117 c.9945G>T p.Q3315H Substitution - Missense 12:112179174-112179174 - KYSE-510 COSM4439654 c.10417C>T p.Q3473* Substitution - Nonsense 12:112172773-112172773 - HCC168T COSM1948441 c.6504A>G p.A2168A Substitution - coding silent 12:112210112-112210112 - 93VU147T COSM1605580 c.9166A>C p.T3056P Substitution - Missense 12:112184534-112184534 - TCGA-AF-6136-01 COSM5065890 c.7142T>G p.V2381G Substitution - Missense 12:112200797-112200797 - TCGA-B5-A11H-01 COSM935248 c.2280C>T p.R760R Substitution - coding silent 12:112252430-112252430 - PCSI_0116_Pa_X COSM3376119 c.9908G>A p.R3303Q Substitution - Missense 12:112179211-112179211 - TCGA-IR-A3LI-01 COSM4846297 c.2817A>G p.L939L Substitution - coding silent 12:112248380-112248380 - YURAY COSM5374230 c.6940C>T p.L2314F Substitution - Missense 12:112204549-112204549 - sysucc-311T COSM5477992 c.5070+6C>T p.? Unknown 12:112230681-112230681 - TCGA-AO-A0J7-01 COSM1605582 c.8458_8459insG p.A2820fs*5 Insertion - Frameshift 12:112185241-112185242 - ESCC_BICR_065T COSM5442272 c.2640G>A p.R880R Substitution - coding silent 12:112250188-112250188 - TCGA-G4-6586-01 COSM1358866 c.4915A>G p.R1639G Substitution - Missense 12:112231532-112231532 - TCGA-AA-A02W-01 COSM287569 c.337G>A p.D113N Substitution - Missense 12:112283119-112283119 - sysucc-1038T COSM5765764 c.4060C>T p.R1354W Substitution - Missense 12:112237063-112237063 - LUAD-YINHD COSM348585 c.11334G>C p.E3778D Substitution - Missense 12:112164210-112164210 - T43 COSM5341896 c.6637G>A p.E2213K Substitution - Missense 12:112208595-112208595 - UM-SCC-4 COSM1605588 c.2465T>G p.V822G Substitution - Missense 12:112250363-112250363 - TCGA-D5-6530-01 COSM1948350 c.8458delG p.A2820fs*26 Deletion - Frameshift 12:112185242-112185242 - TCGA-HU-A4GQ-01 COSM3710681 c.7869C>T p.L2623L Substitution - coding silent 12:112192717-112192717 - TCGA-AP-A054-01 COSM935218 c.4986T>C p.A1662A Substitution - coding silent 12:112230771-112230771 - TCGA-A8-A07I-01 COSM1476135 c.11840_11841insC p.D3948fs*44 Insertion - Frameshift 12:112163055-112163056 - ESCC_102 COSM5638017 c.9545G>T p.R3182L Substitution - Missense 12:112183235-112183235 - PT49 COSM5935845 c.973C>T p.P325S Substitution - Missense 12:112269756-112269756 - SNU-175 COSM1948534 c.3648G>A p.T1216T Substitution - coding silent 12:112243397-112243397 - HCT15 COSM1948189 c.11840_11841insCC p.D3948fs*21 Insertion - Frameshift 12:112163055-112163056 - PD4002a COSM4809969 c.6186G>A p.V2062V Substitution - coding silent 12:112216305-112216305 - TCGA-BR-6452-01 COSM4038863 c.719T>A p.L240H Substitution - Missense 12:112270387-112270387 - PT23_1 COSM5903001 c.1578-1G>A p.? Unknown 12:112259266-112259266 - sysucc-880T COSM3376121 c.6803G>A p.R2268H Substitution - Missense 12:112207936-112207936 - TCGA-EB-A5SE-01 COSM3456231 c.3969C>T p.A1323A Substitution - coding silent 12:112239107-112239107 - TCGA-66-2770-01 COSM692068 c.5240G>A p.G1747E Substitution - Missense 12:112229711-112229711 - SJDOSTEOS012 COSM5760222 c.3286G>A p.A1096T Substitution - Missense 12:112243971-112243971 - 3T COSM3710681 c.7869C>T p.L2623L Substitution - coding silent 12:112192717-112192717 - DLD1 COSM4622436 c.7932C>T p.D2644D Substitution - coding silent 12:112192654-112192654 - TCGA-AF-5654-01 COSM5065832 c.2685-3_2685-2delCA p.? Unknown 12:112248514-112248515 - STC297 COSM5051343 c.9249C>T p.S3083S Substitution - coding silent 12:112184451-112184451 - TCGA-D7-A4YV-01 COSM4038832 c.6502G>A p.A2168T Substitution - Missense 12:112210114-112210114 - TCGA-D1-A103-01 COSM935244 c.2479G>A p.V827M Substitution - Missense 12:112250349-112250349 - TCGA-FS-A1ZC-06 COSM3456221 c.4807C>T p.L1603F Substitution - Missense 12:112231640-112231640 - TCGA-AA-3966-01 COSM272406 c.6001G>A p.V2001I Substitution - Missense 12:112216891-112216891 - I2L-P7-Tumor-Organoid COSM5361956 c.4734T>C p.G1578G Substitution - coding silent 12:112231713-112231713 - LC_C35 COSM1188616 c.788C>A p.A263E Substitution - Missense 12:112270318-112270318 - PTC-6C COSM1605588 c.2465T>G p.V822G Substitution - Missense 12:112250363-112250363 - PASLZM COSM5006298 c.4388A>G p.E1463G Substitution - Missense 12:112235575-112235575 - 587316 COSM1197989 c.7166C>T p.T2389M Substitution - Missense 12:112200773-112200773 - CSCC-20-T COSM4486211 c.2159C>T p.S720F Substitution - Missense 12:112252551-112252551 - 2492721 COSM5724147 c.1621C>T p.H541Y Substitution - Missense 12:112259222-112259222 - T2269 COSM4666775 c.1172G>A p.R391Q Substitution - Missense 12:112265908-112265908 - sysucc-880T COSM5462144 c.4336G>A p.V1446M Substitution - Missense 12:112235627-112235627 - TCGA-GV-A3QI-01 COSM1298933 c.323A>G p.N108S Substitution - Missense 12:112283133-112283133 - SW48 COSM1948425 c.6684G>A p.P2228P Substitution - coding silent 12:112208548-112208548 - RK217_C01 COSM3739429 c.7945A>T p.N2649Y Substitution - Missense 12:112192641-112192641 - CHC898T COSM4953754 c.8906G>A p.G2969D Substitution - Missense 12:112184794-112184794 - CHC892T COSM4961021 c.3598G>A p.V1200M Substitution - Missense 12:112243447-112243447 - TCGA-CJ-4905-01 COSM467814 c.2526C>G p.T842T Substitution - coding silent 12:112250302-112250302 - 587376 COSM1197999 c.9371T>G p.L3124R Substitution - Missense 12:112184329-112184329 - Pat_06_A COSM4666735 c.11014_11016delCTG p.L3672delL Deletion - In frame 12:112167844-112167846 - SCC-25 COSM467808 c.10973T>G p.V3658G Substitution - Missense 12:112167887-112167887 - TCGA-C8-A12P-01 COSM430356 c.6814G>C p.E2272Q Substitution - Missense 12:112207925-112207925 - TCGA-25-1313-01 COSM116042 c.11017T>G p.C3673G Substitution - Missense 12:112167843-112167843 - TCGA-A5-A0VP-01 COSM935222 c.4771G>A p.A1591T Substitution - Missense 12:112231676-112231676 - PT36 COSM5916166 c.4028G>A p.G1343D Substitution - Missense 12:112237095-112237095 - TCGA-70-6723-01 COSM692056 c.2896C>T p.Q966* Substitution - Nonsense 12:112248153-112248153 - CAL33 COSM467808 c.10973T>G p.V3658G Substitution - Missense 12:112167887-112167887 - S02350 COSM5694593 c.8097C>G p.A2699A Substitution - coding silent 12:112190895-112190895 - J90_T COSM3954193 c.10520-3C>G p.? Unknown 12:112171266-112171266 - CCK81 COSM1948540 c.3603C>T p.H1201H Substitution - coding silent 12:112243442-112243442 - RK123_C01 COSM3739435 c.4835A>G p.E1612G Substitution - Missense 12:112231612-112231612 - DLD1 COSM1948257 c.10364C>T p.A3455V Substitution - Missense 12:112172826-112172826 - ESO-327 COSM1246423 c.6583G>A p.V2195M Substitution - Missense 12:112210033-112210033 - SNU-175 COSM1948310 c.9084C>T p.G3028G Substitution - coding silent 12:112184616-112184616 - TCGA-A8-A07W-01 COSM430366 c.881T>C p.V294A Substitution - Missense 12:112269848-112269848 - Pat_59_B COSM5840171 c.1481C>T p.A494V Substitution - Missense 12:112261401-112261401 - T3090 COSM4666771 c.1731+1G>T p.? Unknown 12:112259111-112259111 - TCGA-AZ-4615-01 COSM3739431 c.6865+7T>C p.? Unknown 12:112207867-112207867 - 2292387 COSM1605588 c.2465T>G p.V822G Substitution - Missense 12:112250363-112250363 - DLD1 COSM4622434 c.10044G>T p.K3348N Substitution - Missense 12:112178984-112178984 - TCGA-AZ-4684-01 COSM5140388 c.6952G>A p.E2318K Substitution - Missense 12:112204537-112204537 - TCGA-AP-A059-01 COSM935174 c.10923C>T p.G3641G Substitution - coding silent 12:112169522-112169522 - TCGA-AA-3811-01 COSM1948493 c.4999G>A p.A1667T Substitution - Missense 12:112230758-112230758 - PT31 COSM5906923 c.1889C>T p.P630L Substitution - Missense 12:112256462-112256462 - CHC892T COSM4960962 c.7693G>A p.A2565T Substitution - Missense 12:112193188-112193188 - RKO COSM4647519 c.884T>C p.V295A Substitution - Missense 12:112269845-112269845 - TCGA-BR-4292-01 COSM4038859 c.1737G>A p.A579A Substitution - coding silent 12:112258591-112258591 - HT115 COSM1948528 c.3792C>T p.I1264I Substitution - coding silent 12:112239928-112239928 - CPCG_0183_Pr_P_P3 COSM3396057 c.6924C>T p.I2308I Substitution - coding silent 12:112204565-112204565 - UD-SCC-2 COSM1605580 c.9166A>C p.T3056P Substitution - Missense 12:112184534-112184534 - 32T COSM3710679 c.9855G>C p.Q3285H Substitution - Missense 12:112179264-112179264 - TCGA-A2-A0D2-01 COSM1605582 c.8458_8459insG p.A2820fs*5 Insertion - Frameshift 12:112185241-112185242 - BD93T COSM5514087 c.8939C>A p.S2980Y Substitution - Missense 12:112184761-112184761 - PD4844a COSM4810246 c.3905G>C p.S1302T Substitution - Missense 12:112239171-112239171 - TCGA-RA-A741-01 COSM4818884 c.290C>A p.T97K Substitution - Missense 12:112283166-112283166 - TCGA-BT-A20J-01 COSM416044 c.10520-1G>A p.? Unknown 12:112171264-112171264 - TCGA-D3-A2JK-06 COSM3456191 c.7419C>T p.I2473I Substitution - coding silent 12:112194949-112194949 - T276 COSM4666769 c.1808_1809insA p.C604fs*6 Insertion - Frameshift 12:112258519-112258520 - 2293776 COSM4607533 c.7690-3C>A p.? Unknown 12:112193194-112193194 - KM12 COSM1948437 c.6540A>G p.A2180A Substitution - coding silent 12:112210076-112210076 - TCGA-A2-A0CP-01 COSM1605582 c.8458_8459insG p.A2820fs*5 Insertion - Frameshift 12:112185241-112185242 - BD124T COSM5493030 c.316A>T p.I106F Substitution - Missense 12:112283140-112283140 - 2250149 COSM5030401 c.7459C>A p.Q2487K Substitution - Missense 12:112194909-112194909 - TCGA-61-1904-01 COSM1322006 c.3414C>T p.S1138S Substitution - coding silent 12:112243731-112243731 - LUAD_E01147 COSM390477 c.3778G>A p.A1260T Substitution - Missense 12:112239942-112239942 - 3N44-VS-3T44 COSM4982185 c.10462C>G p.H3488D Substitution - Missense 12:112172728-112172728 - TCGA-18-3415-01 COSM692074 c.7464C>T p.L2488L Substitution - coding silent 12:112194904-112194904 - CHC892T COSM4960962 c.7693G>A p.A2565T Substitution - Missense 12:112193188-112193188 - HT115 COSM1948568 c.2987A>C p.K996T Substitution - Missense 12:112247546-112247546 - TCGA-HU-8602-01 COSM4038844 c.4949G>A p.R1650H Substitution - Missense 12:112230808-112230808 - 46M COSM3456163 c.11832C>T p.I3944I Substitution - coding silent 12:112163064-112163064 - OSCC-GB_01100111 COSM4888400 c.9207G>T p.Q3069H Substitution - Missense 12:112184493-112184493 - TCGA-BH-A0BR-01 COSM1476135 c.11840_11841insC p.D3948fs*44 Insertion - Frameshift 12:112163055-112163056 - TCGA-D1-A17H-01 COSM935170 c.11653G>T p.G3885W Substitution - Missense 12:112163243-112163243 - TCGA-AC-A23H-01 COSM3811046 c.9544C>T p.R3182* Substitution - Nonsense 12:112183236-112183236 - TCGA-OL-A5D6-01 COSM3811060 c.1290A>G p.K430K Substitution - coding silent 12:112265208-112265208 - Pat_06_A COSM5840161 c.4099G>C p.A1367P Substitution - Missense 12:112237024-112237024 - Pat_06_A COSM5840147 c.11854+1G>A p.? Unknown 12:112163041-112163041 - TCGA-DK-A1A6-01 COSM1298925 c.3371G>A p.R1124K Substitution - Missense 12:112243886-112243886 - CSCC-11-T COSM4504408 c.5785C>T p.P1929S Substitution - Missense 12:112219409-112219409 - TCGA-E2-A15T-01 COSM430358 c.5780delC p.P1927fs*87 Deletion - Frameshift 12:112219414-112219414 - 8057783 COSM3384043 c.2940G>T p.L980L Substitution - coding silent 12:112248109-112248109 - BD173T COSM5500559 c.4366C>A p.P1456T Substitution - Missense 12:112235597-112235597 - HCC15T COSM1605580 c.9166A>C p.T3056P Substitution - Missense 12:112184534-112184534 - 587260 COSM1197981 c.10912C>T p.R3638C Substitution - Missense 12:112169533-112169533 - BICR_22 COSM1605588 c.2465T>G p.V822G Substitution - Missense 12:112250363-112250363 - HCC22 COSM3456237 c.3710G>A p.C1237Y Substitution - Missense 12:112240010-112240010 - OSCC-GB_00730111 COSM4889055 c.1011C>G p.V337V Substitution - coding silent 12:112269718-112269718 - TCGA-18-3415-01 COSM692076 c.7477C>T p.L2493F Substitution - Missense 12:112194891-112194891 - J87_T COSM3954201 c.6933C>T p.D2311D Substitution - coding silent 12:112204556-112204556 - UM-SCC-2 COSM1605588 c.2465T>G p.V822G Substitution - Missense 12:112250363-112250363 - pfg143T COSM1948350 c.8458delG p.A2820fs*26 Deletion - Frameshift 12:112185242-112185242 - TCGA-DK-A1A3-01 COSM416046 c.10623C>T p.P3541P Substitution - coding silent 12:112171160-112171160 - TCGA-A5-A0VP-01 COSM935258 c.1308C>G p.L436L Substitution - coding silent 12:112265190-112265190 - PT21_2 COSM5901774 c.2566C>T p.L856F Substitution - Missense 12:112250262-112250262 - TCGA-DD-A4NO-01 COSM4912888 c.11471G>A p.R3824Q Substitution - Missense 12:112163702-112163702 - EGC15 COSM5051349 c.5948C>T p.A1983V Substitution - Missense 12:112217056-112217056 - TCGA-EB-A3Y6-01 COSM3456201 c.6636C>T p.V2212V Substitution - coding silent 12:112208596-112208596 - TCGA-HU-A4GQ-01 COSM4038824 c.8785A>G p.M2929V Substitution - Missense 12:112184915-112184915 - TCGA-BS-A0UF-01 COSM935252 c.2136G>A p.P712P Substitution - coding silent 12:112254058-112254058 - TCGA-F4-6570-01 COSM1358848 c.8586C>T p.T2862T Substitution - coding silent 12:112185114-112185114 - TCGA-B5-A0JT-01 COSM935168 c.11812C>T p.P3938S Substitution - Missense 12:112163084-112163084 - HCT15 COSM1948469 c.5886A>G p.S1962S Substitution - coding silent 12:112217118-112217118 - TCGA-NH-A5IV-01 COSM546403 c.7195C>T p.R2399* Substitution - Nonsense 12:112200744-112200744 - PD4952a COSM5787906 c.8352C>G p.N2784K Substitution - Missense 12:112185348-112185348 - TCGA-A8-A07L-01 COSM5199285 c.9470_9471insTT p.Q3157fs*17 Insertion - Frameshift 12:112184229-112184230 - TCGA-B5-A0JR-01 COSM935260 c.1225T>C p.Y409H Substitution - Missense 12:112265273-112265273 - TCGA-EB-A3XD-01 COSM3456247 c.2090A>G p.N697S Substitution - Missense 12:112254104-112254104 - SCC-25 COSM1605580 c.9166A>C p.T3056P Substitution - Missense 12:112184534-112184534 - LS180 COSM1948556 c.3285C>T p.H1095H Substitution - coding silent 12:112243972-112243972 - YUFIT COSM5374224 c.11733C>T p.F3911F Substitution - coding silent 12:112163163-112163163 - TCGA-DM-A1HB-01 COSM1948350 c.8458delG p.A2820fs*26 Deletion - Frameshift 12:112185242-112185242 - 8051900 COSM546399 c.6292G>T p.G2098W Substitution - Missense 12:112212558-112212558 - TCGA-BG-A2AE-01 COSM935264 c.647-1G>C p.? Unknown 12:112270460-112270460 - TCGA-AA-3866-01 COSM296073 c.8670G>A p.R2890R Substitution - coding silent 12:112185030-112185030 - TCGA-UB-A7MB-01 COSM4930831 c.460A>C p.T154P Substitution - Missense 12:112279273-112279273 - CSCC-37-T COSM4510687 c.7586C>T p.S2529F Substitution - Missense 12:112193572-112193572 - PCSI_0083_Pa_P COSM3376123 c.4252C>T p.R1418C Substitution - Missense 12:112235711-112235711 - TCGA-EE-A2GM-06 COSM3456197 c.6792C>T p.T2264T Substitution - coding silent 12:112207947-112207947 - WSU-HN6 COSM1605588 c.2465T>G p.V822G Substitution - Missense 12:112250363-112250363 - OSCC-GB_01290111 COSM5955242 c.9319G>A p.A3107T Substitution - Missense 12:112184381-112184381 - TCGA-IR-A3LI-01 COSM4846026 c.3480G>A p.L1160L Substitution - coding silent 12:112243665-112243665 - PT40 COSM5923956 c.2782C>T p.Q928* Substitution - Nonsense 12:112248415-112248415 - PT31 COSM5906925 c.1888C>T p.P630S Substitution - Missense 12:112256463-112256463 - CSCC-16-T COSM4460611 c.10866C>T p.C3622C Substitution - coding silent 12:112169579-112169579 - 993TCS COSM674013 c.5721_5722insG p.V1908fs*6 Insertion - Frameshift 12:112219472-112219473 - HCT15 COSM1948400 c.7424A>T p.D2475V Substitution - Missense 12:112194944-112194944 - T2197 COSM4666745 c.10024G>A p.V3342M Substitution - Missense 12:112179004-112179004 - ESCC_44 COSM5629984 c.3213G>T p.T1071T Substitution - coding silent 12:112246935-112246935 - TCGA-EE-A2MC-06 COSM3456249 c.1492C>T p.L498L Substitution - coding silent 12:112261390-112261390 - I2L-P7-Tumor-Organoid COSM5361993 c.8846A>G p.D2949G Substitution - Missense 12:112184854-112184854 - TCGA-AA-3977-01 COSM5117955 c.2983-3T>C p.? Unknown 12:112247553-112247553 - HCC011T COSM5819986 c.4795G>T p.A1599S Substitution - Missense 12:112231652-112231652 - SNUH_G57_S1 COSM3676357 c.7816A>C p.K2606Q Substitution - Missense 12:112193065-112193065 - Pat_26_A COSM1948322 c.8875G>A p.A2959T Substitution - Missense 12:112184825-112184825 - SJOS001107_M2 COSM5024054 c.5186A>G p.Q1729R Substitution - Missense 12:112229765-112229765 - TCGA-F4-6703-01 COSM1358830 c.11412C>T p.S3804S Substitution - coding silent 12:112164132-112164132 - TCGA-18-3411-01 COSM692060 c.4295G>A p.R1432Q Substitution - Missense 12:112235668-112235668 - LC_C8 COSM1188612 c.7969A>G p.T2657A Substitution - Missense 12:112192617-112192617 - Pat_06_B COSM5840157 c.4684G>A p.G1562S Substitution - Missense 12:112233051-112233051 - T3049 COSM4666777 c.541A>G p.T181A Substitution - Missense 12:112273760-112273760 - CSCC-4-T COSM4567839 c.8072_8073CC>TT p.P2691L Substitution - Missense 12:112190919-112190920 - TCGA-B5-A11E-01 COSM935182 c.10014G>A p.E3338E Substitution - coding silent 12:112179014-112179014 - TCGA-AP-A054-01 COSM935178 c.10483G>A p.A3495T Substitution - Missense 12:112172707-112172707 - LOVO COSM4645101 c.11318A>C p.Q3773P Substitution - Missense 12:112164226-112164226 - TCGA-27-1835-01 COSM3398358 c.8760C>T p.S2920S Substitution - coding silent 12:112184940-112184940 - BD124T COSM5493028 c.3248-5delT p.? Unknown 12:112244014-112244014 - TCGA-BP-4162-01 COSM1135302 c.6245C>A p.P2082H Substitution - Missense 12:112212605-112212605 - YUKLAB COSM1706293 c.2242C>T p.P748S Substitution - Missense 12:112252468-112252468 - OSCC-GB_00030111 COSM3710681 c.7869C>T p.L2623L Substitution - coding silent 12:112192717-112192717 - Au5 COSM935166 c.11950C>T p.R3984C Substitution - Missense 12:112162428-112162428 - TCGA-BG-A0MQ-01 COSM935230 c.4340A>G p.E1447G Substitution - Missense 12:112235623-112235623 - LUAD-RT-S01703 COSM379589 c.229A>G p.K77E Substitution - Missense 12:112283227-112283227 - BCM723T COSM4956314 c.11989T>C p.*3997R Nonstop extension 12:112162389-112162389 - TCGA-A6-2686-01 COSM935174 c.10923C>T p.G3641G Substitution - coding silent 12:112169522-112169522 - HCC073T COSM5821743 c.2878-2A>T p.? Unknown 12:112248173-112248173 - TCGA-EE-A2A1-06 COSM3456199 c.6667G>A p.G2223S Substitution - Missense 12:112208565-112208565 - WSU-HN6 COSM1605580 c.9166A>C p.T3056P Substitution - Missense 12:112184534-112184534 - TCGA-KK-A59V-01 COSM546373 c.694G>A p.V232I Substitution - Missense 12:112270412-112270412 - SJHGG027_D COSM4969527 c.3525T>G p.A1175A Substitution - coding silent 12:112243620-112243620 - CHC892T COSM4795359 c.6235G>A p.G2079R Substitution - Missense 12:112212615-112212615 - 31119 COSM5043559 c.6880G>T p.A2294S Substitution - Missense 12:112204609-112204609 - LUAD-B01811 COSM333864 c.7672A>T p.I2558F Substitution - Missense 12:112193486-112193486 - PD4844a COSM4810246 c.3905G>C p.S1302T Substitution - Missense 12:112239171-112239171 - TCGA-AC-A23H-01 COSM3811058 c.2878-1G>A p.? Unknown 12:112248172-112248172 - HX16T COSM1605588 c.2465T>G p.V822G Substitution - Missense 12:112250363-112250363 - SW48 COSM1948628 c.1667A>G p.Q556R Substitution - Missense 12:112259176-112259176 - HT115 COSM1948674 c.62G>A p.G21D Substitution - Missense 12:112306155-112306155 - TCGA-A2-A0D0-01 COSM430352 c.10820G>C p.C3607S Substitution - Missense 12:112169625-112169625 - 18 COSM1246421 c.8800C>T p.R2934C Substitution - Missense 12:112184900-112184900 - B45-Tumor COSM3931529 c.10293G>A p.A3431A Substitution - coding silent 12:112175771-112175771 - CHC892T COSM4961021 c.3598G>A p.V1200M Substitution - Missense 12:112243447-112243447 - TCGA-WS-AB45-01 COSM5189751 c.8308C>T p.R2770W Substitution - Missense 12:112185392-112185392 - TCGA-HU-A4GU-01 COSM1948259 c.10332C>T p.C3444C Substitution - coding silent 12:112172858-112172858 - TCGA-AA-3663-01 COSM1948195 c.11695delG p.A3899fs*44 Deletion - Frameshift 12:112163201-112163201 - 2521262 COSM5892171 c.4532C>T p.S1511F Substitution - Missense 12:112235194-112235194 - TCGA-DA-A1HY-06 COSM3456167 c.10705C>T p.R3569* Substitution - Nonsense 12:112170414-112170414 - TCGA-AC-A23H-01 COSM3811054 c.5416G>C p.E1806Q Substitution - Missense 12:112228649-112228649 - TCGA-EB-A3Y7-01 COSM3456203 c.6427C>T p.R2143C Substitution - Missense 12:112210189-112210189 - PD4841a COSM5787716 c.3440C>T p.A1147V Substitution - Missense 12:112243705-112243705 - CSCC-20-T COSM4552909 c.4891G>T p.A1631S Substitution - Missense 12:112231556-112231556 - 522_T COSM3954191 c.11269-7C>T p.? Unknown 12:112164282-112164282 - TCGA-22-5473-01 COSM692070 c.5424G>A p.L1808L Substitution - coding silent 12:112228253-112228253 - UPCI:SCC090 COSM1605588 c.2465T>G p.V822G Substitution - Missense 12:112250363-112250363 - EGC15 COSM5051351 c.5196C>T p.A1732A Substitution - coding silent 12:112229755-112229755 - 19T COSM692044 c.20C>A p.P7H Substitution - Missense 12:112306197-112306197 - BD49T COSM5498085 c.3843C>T p.S1281S Substitution - coding silent 12:112239233-112239233 - TCGA-G4-6309-01 COSM1358862 c.6133G>A p.V2045M Substitution - Missense 12:112216358-112216358 - C086 COSM1948542 c.3543C>T p.F1181F Substitution - coding silent 12:112243502-112243502 - TCGA-BR-4361-01 COSM4038855 c.2576C>A p.P859H Substitution - Missense 12:112250252-112250252 - UM-SCC-4 COSM1605580 c.9166A>C p.T3056P Substitution - Missense 12:112184534-112184534 - S00837 COSM5661210 c.1572G>A p.E524E Substitution - coding silent 12:112261310-112261310 - TCGA-E6-A1LZ-01 COSM935180 c.10231G>C p.E3411Q Substitution - Missense 12:112175833-112175833 - TCGA-AP-A0LM-01 COSM935220 c.4922C>T p.S1641L Substitution - Missense 12:112231525-112231525 - TCGA-CG-4437-01 COSM4038820 c.9556T>A p.F3186I Substitution - Missense 12:112183224-112183224 - TCGA-DK-A2I4-01 COSM3792203 c.1006G>A p.E336K Substitution - Missense 12:112269723-112269723 - 2521259 COSM5890674 c.2363C>T p.S788F Substitution - Missense 12:112251058-112251058 - UM-SCC-2 COSM4599303 c.11758C>T p.R3920C Substitution - Missense 12:112163138-112163138 - SCC-25 COSM1605588 c.2465T>G p.V822G Substitution - Missense 12:112250363-112250363 - SNU-175 COSM1948508 c.4485C>T p.T1495T Substitution - coding silent 12:112235241-112235241 - TCGA-GF-A6C9-06 COSM4514678 c.8985C>T p.I2995I Substitution - coding silent 12:112184715-112184715 - UM-SCC-2 COSM1605580 c.9166A>C p.T3056P Substitution - Missense 12:112184534-112184534 - PT35 COSM5913342 c.10667-6C>T p.? Unknown 12:112170458-112170458 - C658 COSM4443232 c.6890C>T p.T2297M Substitution - Missense 12:112204599-112204599 - TCGA-EE-A29M-06 COSM3456205 c.6375C>T p.T2125T Substitution - coding silent 12:112210241-112210241 - LOVO COSM4645099 c.11521C>T p.R3841W Substitution - Missense 12:112163652-112163652 - PT33 COSM5909210 c.10329-7C>T p.? Unknown 12:112172868-112172868 - TCGA-QB-A6FS-06 COSM3870757 c.10162G>A p.D3388N Substitution - Missense 12:112176638-112176638 - Au5 COSM5605573 c.2410G>A p.E804K Substitution - Missense 12:112251011-112251011 - YUWAPO COSM5374228 c.8200C>T p.L2734L Substitution - coding silent 12:112190792-112190792 - TCGA-BR-6452-01 COSM4038861 c.925G>A p.D309N Substitution - Missense 12:112269804-112269804 - UM-SCC-11B COSM1605580 c.9166A>C p.T3056P Substitution - Missense 12:112184534-112184534 - TCGA-FG-A4MW-01 COSM3967991 c.6582C>T p.A2194A Substitution - coding silent 12:112210034-112210034 - CSCC-27-T COSM4491974 c.3030C>T p.S1010S Substitution - coding silent 12:112247503-112247503 - TCGA-EL-A4KG-01 COSM3368652 c.1389G>A p.L463L Substitution - coding silent 12:112264147-112264147 - TCGA-AA-3692-01 COSM1476135 c.11840_11841insC p.D3948fs*44 Insertion - Frameshift 12:112163055-112163056 - CSCC-29-T COSM4569443 c.898T>G p.F300V Substitution - Missense 12:112269831-112269831 - TCGA-C5-A7UC-01 COSM4828117 c.4695G>A p.M1565I Substitution - Missense 12:112233040-112233040 - 587222 COSM1197993 c.2953C>T p.P985S Substitution - Missense 12:112248096-112248096 - 474 COSM4438251 c.10465G>A p.E3489K Substitution - Missense 12:112172725-112172725 - TCGA-EI-6884-01 COSM3416500 c.370C>T p.L124L Substitution - coding silent 12:112279363-112279363 - HCT8 COSM1948189 c.11840_11841insCC p.D3948fs*21 Insertion - Frameshift 12:112163055-112163056 - T11 COSM5341894 c.7302-8C>T p.? Unknown 12:112195074-112195074 - C135 COSM4617296 c.8736G>A p.V2912V Substitution - coding silent 12:112184964-112184964 - S00841 COSM5661818 c.1950A>G p.K650K Substitution - coding silent 12:112256401-112256401 - TCGA-AX-A0J1-01 COSM935226 c.4457delC p.P1486fs*18 Deletion - Frameshift 12:112235506-112235506 - TCGA-AG-A025-01 COSM265334 c.7196G>A p.R2399Q Substitution - Missense 12:112200743-112200743 - YUMOBER COSM5374226 c.8497C>T p.H2833Y Substitution - Missense 12:112185203-112185203 - PT36 COSM5916171 c.1453-8C>T p.? Unknown 12:112261437-112261437 - TCGA-EE-A20F-06 COSM3456219 c.5190C>T p.A1730A Substitution - coding silent 12:112229761-112229761 - OSCC-GB_01060111 COSM4883053 c.11680G>T p.E3894* Substitution - Nonsense 12:112163216-112163216 - T2949 COSM4666747 c.9794C>T p.T3265M Substitution - Missense 12:112179325-112179325 - CHC892T COSM4795359 c.6235G>A p.G2079R Substitution - Missense 12:112212615-112212615 - T2949 COSM4666743 c.10348C>T p.R3450* Substitution - Nonsense 12:112172842-112172842 - AOCS-005-1-8 COSM3980768 c.9341T>G p.L3114R Substitution - Missense 12:112184359-112184359 - TCGA-A5-A0VQ-01 COSM935184 c.9945+8C>T p.? Unknown 12:112179166-112179166 - 8057783 COSM3384041 c.2941G>T p.E981* Substitution - Nonsense 12:112248108-112248108 - TCGA-61-2610-02 COSM1322004 c.1033T>G p.L345V Substitution - Missense 12:112266975-112266975 - LIM1899 COSM4639834 c.3799G>A p.A1267T Substitution - Missense 12:112239921-112239921 - CAL33 COSM1605588 c.2465T>G p.V822G Substitution - Missense 12:112250363-112250363 - Pat_06_B COSM5840151 c.6728A>C p.D2243A Substitution - Missense 12:112208504-112208504 - TCGA-D9-A6EC-06 COSM4401920 c.4037A>T p.E1346V Substitution - Missense 12:112237086-112237086 - YUKAT COSM5374234 c.3452G>A p.S1151N Substitution - Missense 12:112243693-112243693 - ESO-081 COSM1243119 c.6495C>T p.F2165F Substitution - coding silent 12:112210121-112210121 - SJHGG015_D COSM4969199 c.7122C>T p.V2374V Substitution - coding silent 12:112203654-112203654 - TCGA-DK-A1A6-01 COSM1298927 c.3022G>A p.E1008K Substitution - Missense 12:112247511-112247511 - T1209 COSM4666765 c.3347G>A p.G1116D Substitution - Missense 12:112243910-112243910 - TCGA-D1-A103-01 COSM935254 c.1902A>G p.G634G Substitution - coding silent 12:112256449-112256449 - TCGA-CG-5724-01 COSM4038851 c.2924C>T p.A975V Substitution - Missense 12:112248125-112248125 - TCGA-HU-A4GT-01 COSM4038857 c.2274A>G p.T758T Substitution - coding silent 12:112252436-112252436 - TCGA-BS-A0UJ-01 COSM935236 c.3741C>A p.A1247A Substitution - coding silent 12:112239979-112239979 - UM-SCC-47 COSM1605588 c.2465T>G p.V822G Substitution - Missense 12:112250363-112250363 - TCGA-AA-A01V-01 COSM1476135 c.11840_11841insC p.D3948fs*44 Insertion - Frameshift 12:112163055-112163056 - TCGA-EE-A2M6-06 COSM3456213 c.6236G>A p.G2079E Substitution - Missense 12:112212614-112212614 - sysucc-1128T COSM5469124 c.8734G>A p.V2912M Substitution - Missense 12:112184966-112184966 - ICC005T COSM5808773 c.2404G>C p.E802Q Substitution - Missense 12:112251017-112251017 - TCGA-HU-A4G9-01 COSM4038849 c.3332A>C p.D1111A Substitution - Missense 12:112243925-112243925 - YUSUBA COSM1706295 c.2135C>T p.P712L Substitution - Missense 12:112254059-112254059 - S02246 COSM5678802 c.11869C>T p.R3957C Substitution - Missense 12:112162509-112162509 - I2L-P7-Tumor-Organoid COSM294181 c.4948C>T p.R1650C Substitution - Missense 12:112230809-112230809 - TCGA-D3-A1QA-06 COSM3456193 c.7208C>T p.P2403L Substitution - Missense 12:112200731-112200731 - TCGA-23-1809-01 COSM1322008 c.9514-1G>T p.? Unknown 12:112183267-112183267 - 2492722 COSM5724147 c.1621C>T p.H541Y Substitution - Missense 12:112259222-112259222 - ESCC_BICR_047T COSM5430298 c.8862C>G p.G2954G Substitution - coding silent 12:112184838-112184838 - T2269 COSM935166 c.11950C>T p.R3984C Substitution - Missense 12:112162428-112162428 - pfg212T COSM1948241 c.10745C>T p.A3582V Substitution - Missense 12:112170374-112170374 - S01453 COSM5668434 c.7766G>A p.G2589E Substitution - Missense 12:112193115-112193115 - TCGA-D5-6927-01 COSM1358852 c.8436C>T p.G2812G Substitution - coding silent 12:112185264-112185264 - TCGA-D7-A4YV-01 COSM4038845 c.4769C>T p.A1590V Substitution - Missense 12:112231678-112231678 - TCGA-A6-5665-01 COSM1358824 c.11840delC p.P3947fs*21 Deletion - Frameshift 12:112163056-112163056 - TCGA-D1-A103-01 COSM935256 c.1613T>C p.M538T Substitution - Missense 12:112259230-112259230 - TCGA-B5-A11H-01 COSM935240 c.3568C>T p.R1190W Substitution - Missense 12:112243477-112243477 - PET052T COSM1948223 c.11040G>T p.K3680N Substitution - Missense 12:112167820-112167820 - 587376 COSM1198001 c.7714G>A p.E2572K Substitution - Missense 12:112193167-112193167 - TCGA-D3-A51G-06 COSM1948245 c.10686G>A p.T3562T Substitution - coding silent 12:112170433-112170433 - TCGA-AX-A0J1-01 COSM935238 c.3668C>T p.T1223M Substitution - Missense 12:112243377-112243377 - UM-SCC-2 COSM1948491 c.5009A>G p.H1670R Substitution - Missense 12:112230748-112230748 - GHE0609 COSM5714126 c.2631A>G p.I877M Substitution - Missense 12:112250197-112250197 - T3498 COSM4666731 c.11878C>T p.R3960C Substitution - Missense 12:112162500-112162500 - T2197 COSM4666741 c.10446C>T p.P3482P Substitution - coding silent 12:112172744-112172744 - TCGA-BR-8680-01 COSM4038842 c.5087T>G p.L1696R Substitution - Missense 12:112229864-112229864 - TCGA-CK-4951-01 COSM5148053 c.9039G>A p.P3013P Substitution - coding silent 12:112184661-112184661 - 587222 COSM1197991 c.5366C>T p.A1789V Substitution - Missense 12:112228699-112228699 - TCGA-AC-A3BB-01 COSM3811068 c.39C>A p.S13R Substitution - Missense 12:112306178-112306178 - TCGA-CH-5739-01 COSM3670962 c.9125C>A p.P3042H Substitution - Missense 12:112184575-112184575 - C135 COSM4617298 c.4350C>G p.P1450P Substitution - coding silent 12:112235613-112235613 - Pat_28_B COSM5840169 c.1601C>T p.T534I Substitution - Missense 12:112259242-112259242 - TCGA-FW-A3TU-06 COSM3456189 c.7964C>T p.P2655L Substitution - Missense 12:112192622-112192622 - SW48 COSM1948644 c.1465A>C p.S489R Substitution - Missense 12:112261417-112261417 - SH-3000 COSM5018030 c.439G>A p.G147R Substitution - Missense 12:112279294-112279294 - TCGA-A5-A0GP-01 COSM935242 c.2779T>G p.F927V Substitution - Missense 12:112248418-112248418 - TCGA-BG-A0MQ-01 COSM935212 c.5809-1G>A p.? Unknown 12:112217196-112217196 - YULONE COSM259712 c.6000C>T p.I2000I Substitution - coding silent 12:112216892-112216892 - TCGA-D1-A15X-01 COSM935262 c.868G>A p.V290I Substitution - Missense 12:112270238-112270238 - TCGA-F5-6814-01 COSM3416494 c.7573T>G p.Y2525D Substitution - Missense 12:112193585-112193585 - PT36 COSM5916169 c.3384-8C>T p.? Unknown 12:112243769-112243769 - TCGA-66-2781-01 COSM692062 c.4609G>A p.E1537K Substitution - Missense 12:112235117-112235117 - YUNIBO COSM5374232 c.4663C>G p.R1555G Substitution - Missense 12:112233072-112233072 - TCGA-CA-5254-01 COSM1358870 c.4672C>A p.R1558R Substitution - coding silent 12:112233063-112233063 - TCGA-AA-3864-01 COSM1948307 c.9186C>T p.S3062S Substitution - coding silent 12:112184514-112184514 - LUAD-YINHD COSM348583 c.11971G>A p.E3991K Substitution - Missense 12:112162407-112162407 - HCT15 COSM1948257 c.10364C>T p.A3455V Substitution - Missense 12:112172826-112172826 - SW1222 COSM3384039 c.3571C>T p.R1191W Substitution - Missense 12:112243474-112243474 - 3030_T COSM3954197 c.8801G>T p.R2934L Substitution - Missense 12:112184899-112184899 - ESCC_170 COSM5649169 c.3910C>G p.Q1304E Substitution - Missense 12:112239166-112239166 - KPOPBR-07-T COSM5964127 c.11816C>T p.P3939L Substitution - Missense 12:112163080-112163080 - PASFXA COSM5005832 c.10786+7T>C p.? Unknown 12:112170326-112170326 - TCGA-J4-8200-01 COSM3670964 c.7420C>T p.R2474W Substitution - Missense 12:112194948-112194948 - CHC799T COSM4953549 c.5540C>T p.S1847L Substitution - Missense 12:112228137-112228137 - NB-1194 COSM1283714 c.10161A>G p.P3387P Substitution - coding silent 12:112176639-112176639 - C91 COSM4444385 c.5066A>G p.E1689G Substitution - Missense 12:112230691-112230691 - PD11367a COSM5794360 c.11250C>T p.Y3750Y Substitution - coding silent 12:112167335-112167335 - TCGA-AX-A0J0-01 COSM935166 c.11950C>T p.R3984C Substitution - Missense 12:112162428-112162428 - TCGA-CJ-4644-01 COSM1135304 c.488G>C p.G163A Substitution - Missense 12:112279245-112279245 - TCGA-14-1450-01 COSM3398360 c.8607G>A p.S2869S Substitution - coding silent 12:112185093-112185093 - TCGA-EI-6885-01 COSM3416498 c.3389G>A p.R1130H Substitution - Missense 12:112243756-112243756 - TCGA-60-2722-01 COSM692080 c.9412G>A p.E3138K Substitution - Missense 12:112184288-112184288 - EGC3 COSM5051339 c.10062G>A p.P3354P Substitution - coding silent 12:112178966-112178966 - WSU-HN12 COSM1605580 c.9166A>C p.T3056P Substitution - Missense 12:112184534-112184534 - 93VU147T COSM1605588 c.2465T>G p.V822G Substitution - Missense 12:112250363-112250363 - TCGA-46-3769-01 COSM692072 c.5928C>T p.P1976P Substitution - coding silent 12:112217076-112217076 - KYSE-510 COSM4439656 c.10416C>T p.N3472N Substitution - coding silent 12:112172774-112172774 - HCC125 COSM1605586 c.5254-10C>G p.? Unknown 12:112228821-112228821 - TCGA-DA-A1HW-06 COSM3456215 c.5975C>T p.P1992L Substitution - Missense 12:112216917-112216917 - TCGA-GM-A4E0-01 COSM3811052 c.5628A>G p.L1876L Substitution - coding silent 12:112226719-112226719 - PT34 COSM5910781 c.11632-6C>T p.? Unknown 12:112163270-112163270 - HCC129T COSM5817061 c.1915A>G p.T639A Substitution - Missense 12:112256436-112256436 - 37M COSM5583318 c.11619C>T p.L3873L Substitution - coding silent 12:112163554-112163554 - SCC-9 COSM1605588 c.2465T>G p.V822G Substitution - Missense 12:112250363-112250363 - C658 COSM4443234 c.5879T>G p.L1960R Substitution - Missense 12:112217125-112217125 - TCGA-BS-A0UV-01 COSM259714 c.3098C>A p.S1033Y Substitution - Missense 12:112247050-112247050 - TCGA-BR-4256-01 COSM4038834 c.6287A>G p.Y2096C Substitution - Missense 12:112212563-112212563 - CSCC-60-T COSM4524105 c.11668G>A p.D3890N Substitution - Missense 12:112163228-112163228 - HCT15 COSM4622436 c.7932C>T p.D2644D Substitution - coding silent 12:112192654-112192654 - TCGA-AG-3726-01 COSM5067021 c.9581T>A p.L3194* Substitution - Nonsense 12:112183199-112183199 - 7b COSM4657625 c.5301C>G p.I1767M Substitution - Missense 12:112228764-112228764 - ESCC_6 COSM5623329 c.8741C>T p.S2914L Substitution - Missense 12:112184959-112184959 - TCGA-DK-A1AB-01 COSM416042 c.5638G>C p.E1880Q Substitution - Missense 12:112226709-112226709 - TCGA-AA-A010-01 COSM279259 c.11759G>A p.R3920H Substitution - Missense 12:112163137-112163137 - 8016470 COSM3384035 c.9105C>T p.P3035P Substitution - coding silent 12:112184595-112184595 - TCGA-EE-A3JH-06 COSM3456233 c.3882C>T p.L1294L Substitution - coding silent 12:112239194-112239194 - TCGA-EE-A2MN-06 COSM3456177 c.9244G>A p.V3082I Substitution - Missense 12:112184456-112184456 - LP6005500-DNA_G03 COSM5035134 c.3248-6T>G p.? Unknown 12:112244015-112244015 - TCGA-AZ-4315-01 COSM1358876 c.1975C>T p.R659C Substitution - Missense 12:112256376-112256376 - 2_RESISTANT COSM1721556 c.10963C>T p.L3655L Substitution - coding silent 12:112167897-112167897 - TCGA-AZ-6601-01 COSM3686047 c.6866-3delT p.? Unknown 12:112204626-112204626 - TCGA-A2-A0T5-01 COSM3811050 c.8903T>G p.V2968G Substitution - Missense 12:112184797-112184797 - TCGA-AN-A046-01 COSM3811064 c.702G>A p.A234A Substitution - coding silent 12:112270404-112270404 - GHE0605 COSM5713949 c.3844G>A p.E1282K Substitution - Missense 12:112239232-112239232 - 53M COSM5594277 c.9236C>T p.S3079F Substitution - Missense 12:112184464-112184464 - TCGA-CF-A1HS-01 COSM416040 c.5418+2T>C p.? Unknown 12:112228645-112228645 - TCGA-34-5231-01 COSM692078 c.9187G>C p.A3063P Substitution - Missense 12:112184513-112184513 - 255 COSM1358874 c.2165delC p.P722fs*3 Deletion - Frameshift 12:112252545-112252545 - TCGA-EB-A41A-01 COSM3456217 c.5448T>C p.T1816T Substitution - coding silent 12:112228229-112228229 - TCGA-EE-A181-06 COSM3456161 c.11860C>T p.P3954S Substitution - Missense 12:112162518-112162518 - TCGA-D1-A17U-01 COSM935202 c.7564G>T p.D2522Y Substitution - Missense 12:112193594-112193594 - 254891 COSM3724773 c.2704G>T p.V902L Substitution - Missense 12:112248493-112248493 - TCGA-CM-5861-01 COSM5157905 c.3674T>C p.V1225A Substitution - Missense 12:112243371-112243371 - OSCC-GB_00190111 COSM692044 c.20C>A p.P7H Substitution - Missense 12:112306197-112306197 - TCGA-EE-A3J5-06 COSM3456227 c.4446T>A p.D1482E Substitution - Missense 12:112235517-112235517 - TCGA-B6-A0IE-01 COSM1476135 c.11840_11841insC p.D3948fs*44 Insertion - Frameshift 12:112163055-112163056 - TCGA-B5-A11E-01 COSM935192 c.9079G>A p.E3027K Substitution - Missense 12:112184621-112184621 - TCGA-AA-3977-01 COSM1948410 c.6997C>T p.R2333* Substitution - Nonsense 12:112204492-112204492 - Pat_05_A COSM5840167 c.1682C>T p.A561V Substitution - Missense 12:112259161-112259161 - SC_9034 COSM5554951 c.5915G>A p.G1972E Substitution - Missense 12:112217089-112217089 - sysucc-834T COSM5485551 c.10450C>T p.R3484W Substitution - Missense 12:112172740-112172740 - 587316 COSM1197985 c.11461G>A p.A3821T Substitution - Missense 12:112163712-112163712 - CSCC-29-T COSM4568504 c.10951T>A p.F3651I Substitution - Missense 12:112167909-112167909 - TCGA-BR-4370-01 COSM1948330 c.8803G>A p.A2935T Substitution - Missense 12:112184897-112184897 - pfg222T COSM1948427 c.6683C>T p.P2228L Substitution - Missense 12:112208549-112208549 - TCGA-B0-5108-01 COSM3359547 c.6219C>G p.G2073G Substitution - coding silent 12:112212631-112212631 - TCGA-A1-A0SD-01 COSM430354 c.8884G>A p.D2962N Substitution - Missense 12:112184816-112184816 - TCGA-D3-A5GO-06 COSM3456209 c.6282C>T p.F2094F Substitution - coding silent 12:112212568-112212568 - 2521243 COSM5886762 c.4522C>T p.P1508S Substitution - Missense 12:112235204-112235204 - T3024 COSM4666753 c.8881G>A p.A2961T Substitution - Missense 12:112184819-112184819 - AOCS-112-1-2 COSM3980772 c.4509G>C p.L1503F Substitution - Missense 12:112235217-112235217 - TCGA-AG-3906-01 COSM5070081 c.6738+8A>T p.? Unknown 12:112208486-112208486 - 1960590 COSM1605584 c.6201_6212del12 p.D2068_G2071delDVAG Deletion - In frame 12:112212638-112212649 - T3118 COSM4666735 c.11014_11016delCTG p.L3672delL Deletion - In frame 12:112167844-112167846 - TCGA-AA-3715-01 COSM5106986 c.6243A>T p.P2081P Substitution - coding silent 12:112212607-112212607 - T3503 COSM3811064 c.702G>A p.A234A Substitution - coding silent 12:112270404-112270404 - TCGA-EI-6882-01 COSM1358824 c.11840delC p.P3947fs*21 Deletion - Frameshift 12:112163056-112163056 - I2L-P7-Tumor-Organoid COSM5181284 c.10591_10593delTTC p.F3531delF Deletion - In frame 12:112171190-112171192 - PCSI_0492_Pa_P_526 COSM4964830 c.1088T>C p.L363S Substitution - Missense 12:112266920-112266920 - 1N60-VS-1T60 COSM4977655 c.8139A>G p.E2713E Substitution - coding silent 12:112190853-112190853 - CHC909T COSM4806253 c.10315C>A p.L3439I Substitution - Missense 12:112175749-112175749 - PCSI_0472_Pa_P_526 COSM5031517 c.7975G>A p.D2659N Substitution - Missense 12:112192611-112192611 - BCM723T COSM4956314 c.11989T>C p.*3997R Nonstop extension 12:112162389-112162389 - TCGA-D5-6927-01 COSM1358850 c.8459C>T p.A2820V Substitution - Missense 12:112185241-112185241 - TCGA-HU-A4H3-01 COSM4038818 c.10853C>T p.S3618L Substitution - Missense 12:112169592-112169592 - CHC898T COSM4953754 c.8906G>A p.G2969D Substitution - Missense 12:112184794-112184794 - TCGA-D1-A167-01 COSM935172 c.11082C>T p.Y3694Y Substitution - coding silent 12:112167503-112167503 - ACINAR01 COSM1197981 c.10912C>T p.R3638C Substitution - Missense 12:112169533-112169533 - COLO205 COSM1948524 c.3798C>T p.C1266C Substitution - coding silent 12:112239922-112239922 - TCGA-AG-A026-01 COSM290424 c.9876C>G p.G3292G Substitution - coding silent 12:112179243-112179243 - TCGA-AG-4008-01 COSM259118 c.829A>G p.M277V Substitution - Missense 12:112270277-112270277 - TCGA-D1-A15X-01 COSM935246 c.2388A>G p.G796G Substitution - coding silent 12:112251033-112251033 - TCGA-AG-A023-01 COSM1476135 c.11840_11841insC p.D3948fs*44 Insertion - Frameshift 12:112163055-112163056 - SC_9035 COSM5562277 c.10187C>T p.P3396L Substitution - Missense 12:112176613-112176613 - TCGA-A5-A0VP-01 COSM935200 c.7814G>A p.R2605H Substitution - Missense 12:112193067-112193067 - T660 COSM4666751 c.8940C>T p.S2980S Substitution - coding silent 12:112184760-112184760 - TCGA-46-3768-01 COSM692050 c.2502G>T p.P834P Substitution - coding silent 12:112250326-112250326 - CSCC-32-T COSM4560039 c.77G>A p.W26* Substitution - Nonsense 12:112306140-112306140 - CSCC-11-T COSM4487398 c.2319C>T p.P773P Substitution - coding silent 12:112251102-112251102 - PD3178a COSM1659047 c.6707G>A p.S2236N Substitution - Missense 12:112208525-112208525 - CAL27 COSM467808 c.10973T>G p.V3658G Substitution - Missense 12:112167887-112167887 - ESO-250 COSM1246421 c.8800C>T p.R2934C Substitution - Missense 12:112184900-112184900 - TCGA-EE-A29N-06 COSM3456169 c.10661C>T p.A3554V Substitution - Missense 12:112171122-112171122 - CSCC-11-T COSM4448753 c.11631+2T>C p.? Unknown 12:112163540-112163540 - HCT8 COSM4622436 c.7932C>T p.D2644D Substitution - coding silent 12:112192654-112192654 - C086 COSM5527514 c.11172C>T p.S3724S Substitution - coding silent 12:112167413-112167413 - T613 COSM4666755 c.8874C>T p.D2958D Substitution - coding silent 12:112184826-112184826 - TCGA-BR-8363-01 COSM4038865 c.629T>G p.I210S Substitution - Missense 12:112273672-112273672 - BD171T COSM5494783 c.7689+4G>T p.? Unknown 12:112193465-112193465 - 11M COSM5576454 c.8013C>T p.V2671V Substitution - coding silent 12:112192573-112192573 - 2492730 COSM5729026 c.8520G>A p.L2840L Substitution - coding silent 12:112185180-112185180 - PT51 COSM5938311 c.10768C>T p.P3590S Substitution - Missense 12:112170351-112170351 - ACA4 COSM5961392 c.9004C>T p.H3002Y Substitution - Missense 12:112184696-112184696 - T3262 COSM4666757 c.7022G>A p.R2341H Substitution - Missense 12:112203754-112203754 - TCGA-CG-4305-01 COSM1948606 c.2045C>T p.A682V Substitution - Missense 12:112254149-112254149 - CAL33 COSM1605580 c.9166A>C p.T3056P Substitution - Missense 12:112184534-112184534 - TCGA-BR-4184-01 COSM4038873 c.219C>T p.G73G Substitution - coding silent 12:112283237-112283237 - RKO COSM1948314 c.9040C>T p.L3014L Substitution - coding silent 12:112184660-112184660 - WSU-HN13 COSM1605588 c.2465T>G p.V822G Substitution - Missense 12:112250363-112250363 - TCGA-13-1510-01 COSM117514 c.5089A>G p.M1697V Substitution - Missense 12:112229862-112229862 - TCGA-EK-A2R8-01 COSM4822703 c.9824G>A p.R3275K Substitution - Missense 12:112179295-112179295 - TCGA-QG-A5Z2-01 COSM5187076 c.10618A>G p.T3540A Substitution - Missense 12:112171165-112171165 - CAL27 COSM1605580 c.9166A>C p.T3056P Substitution - Missense 12:112184534-112184534 - TCGA-CD-A4MI-01 COSM4038871 c.365T>C p.L122P Substitution - Missense 12:112279368-112279368 - OSCC-GB_00410111 COSM1948209 c.11224G>A p.E3742K Substitution - Missense 12:112167361-112167361 - TCGA-EE-A2GB-06 COSM3456175 c.9967C>T p.P3323S Substitution - Missense 12:112179061-112179061 - CSCC-37-T COSM4570982 c.2735T>A p.I912N Substitution - Missense 12:112248462-112248462 - S02404 COSM5700688 c.7647G>A p.E2549E Substitution - coding silent 12:112193511-112193511 - 587376 COSM1198003 c.2858C>T p.A953V Substitution - Missense 12:112248339-112248339 - 8016470 COSM3384039 c.3571C>T p.R1191W Substitution - Missense 12:112243474-112243474 - ESCC_143 COSM5644021 c.4317C>T p.S1439S Substitution - coding silent 12:112235646-112235646 - LUAD-YINHD COSM348587 c.10989G>C p.Q3663H Substitution - Missense 12:112167871-112167871 - 587234 COSM1197997 c.11963A>G p.H3988R Substitution - Missense 12:112162415-112162415 - TCGA-AA-3509-01 COSM5098548 c.5808+10C>T p.? Unknown 12:112219376-112219376 - TCGA-E9-A1NI-01 COSM1476135 c.11840_11841insC p.D3948fs*44 Insertion - Frameshift 12:112163055-112163056 - TCGA-AA-3966-01 COSM272404 c.11956G>A p.A3986T Substitution - Missense 12:112162422-112162422 - TCGA-D3-A51G-06 COSM3456251 c.900C>T p.F300F Substitution - coding silent 12:112269829-112269829 - T3024 COSM4666749 c.8954A>G p.H2985R Substitution - Missense 12:112184746-112184746 - EGC15 COSM5051341 c.9979T>A p.F3327I Substitution - Missense 12:112179049-112179049 - 49M COSM5589877 c.5386C>T p.P1796S Substitution - Missense 12:112228679-112228679 - TCGA-AZ-6598-01 COSM1358864 c.5252A>G p.Q1751R Substitution - Missense 12:112229699-112229699 - RK308_C01 COSM3739433 c.6019G>A p.D2007N Substitution - Missense 12:112216873-112216873 - 49M COSM3456187 c.8705C>T p.S2902L Substitution - Missense 12:112184995-112184995 - BCB307T COSM4955809 c.2430G>A p.L810L Substitution - coding silent 12:112250991-112250991 - SS6003133 COSM3716899 c.10216A>G p.K3406E Substitution - Missense 12:112175848-112175848 - TCGA-A2-A0T5-01 COSM3811048 c.9199A>C p.T3067P Substitution - Missense 12:112184501-112184501 - CSCC-18-T COSM4514678 c.8985C>T p.I2995I Substitution - coding silent 12:112184715-112184715 - TCGA-D3-A5GR-06 COSM3456239 c.3198C>T p.A1066A Substitution - coding silent 12:112246950-112246950 - PT32 COSM5907594 c.1202G>A p.R401K Substitution - Missense 12:112265878-112265878 - PT19_2 COSM5900236 c.11372C>T p.T3791I Substitution - Missense 12:112164172-112164172 - CHC155T COSM3667089 c.4191T>G p.G1397G Substitution - coding silent 12:112235772-112235772 - CSCC-10-T COSM4499176 c.4502C>T p.T1501I Substitution - Missense 12:112235224-112235224 - UM-SCC-2 COSM467808 c.10973T>G p.V3658G Substitution - Missense 12:112167887-112167887 - 8064157 COSM3384045 c.2578G>C p.V860L Substitution - Missense 12:112250250-112250250 - S01020 COSM5664846 c.9721G>T p.G3241W Substitution - Missense 12:112183059-112183059 - S02385 COSM5698768 c.1078A>T p.K360* Substitution - Nonsense 12:112266930-112266930 - LS411 COSM1948350 c.8458delG p.A2820fs*26 Deletion - Frameshift 12:112185242-112185242 - HX5T COSM1605584 c.6201_6212del12 p.D2068_G2071delDVAG Deletion - In frame 12:112212638-112212649 - TCGA-AN-A046-01 COSM3811062 c.922C>T p.R308* Substitution - Nonsense 12:112269807-112269807 - SNU-175 COSM1948243 c.10744G>A p.A3582T Substitution - Missense 12:112170375-112170375 - RK061_C01 COSM1628386 c.293T>A p.L98H Substitution - Missense 12:112283163-112283163 - CSCC-27-T COSM4508557 c.6943C>T p.P2315S Substitution - Missense 12:112204546-112204546 - Pat_76_A COSM5840165 c.2168_2169CC>TT p.S723F Substitution - Missense 12:112252541-112252542 - RK172_C01 COSM3700205 c.7558G>A p.A2520T Substitution - Missense 12:112193600-112193600 - TCGA-D3-A3C8-06 COSM3456203 c.6427C>T p.R2143C Substitution - Missense 12:112210189-112210189 - TCGA-22-5473-01 COSM692064 c.4707G>A p.V1569V Substitution - coding silent 12:112233028-112233028 - TCGA-76-4925-01 COSM3398356 c.11045A>T p.K3682M Substitution - Missense 12:112167815-112167815 - TCGA-EE-A2MS-06 COSM3456253 c.21C>T p.P7P Substitution - coding silent 12:112306196-112306196 - TCGA-BR-8360-01 COSM4038836 c.6278A>G p.Y2093C Substitution - Missense 12:112212572-112212572 - TCGA-GC-A3RB-01 COSM1298931 c.1692G>C p.L564L Substitution - coding silent 12:112259151-112259151 - T3724 COSM1358824 c.11840delC p.P3947fs*21 Deletion - Frameshift 12:112163056-112163056 - TCGA-BG-A0M4-01 COSM935216 c.5464G>A p.A1822T Substitution - Missense 12:112228213-112228213 - Pat_26_A COSM5840159 c.4367C>T p.P1456L Substitution - Missense 12:112235596-112235596 - TCGA-EE-A2MC-06 COSM3456165 c.10933C>T p.H3645Y Substitution - Missense 12:112169512-112169512 - T578 COSM4666779 c.505+1G>T p.? Unknown 12:112279227-112279227 - 4_RESISTANT COSM1724472 c.2467_2468insG p.E823fs*32 Insertion - Frameshift 12:112250360-112250361 - TCGA-EJ-5499-01 COSM1127563 c.496T>C p.S166P Substitution - Missense 12:112279237-112279237 - C135 COSM1948350 c.8458delG p.A2820fs*26 Deletion - Frameshift 12:112185242-112185242 - TCGA-AN-A046-01 COSM935166 c.11950C>T p.R3984C Substitution - Missense 12:112162428-112162428 - ESCC_170 COSM1948475 c.5530G>A p.G1844R Substitution - Missense 12:112228147-112228147 - TCGA-C8-A275-01 COSM1476137 c.2791G>C p.E931Q Substitution - Missense 12:112248406-112248406 - TCGA-CM-6171-01 COSM4666767 c.2111G>A p.R704H Substitution - Missense 12:112254083-112254083 - TCGA-B5-A0JY-01 COSM935214 c.5710C>T p.R1904* Substitution - Nonsense 12:112219484-112219484 - CHC909T COSM4806253 c.10315C>A p.L3439I Substitution - Missense 12:112175749-112175749 - TCGA-AA-A024-01 COSM287358 c.9631A>G p.I3211V Substitution - Missense 12:112183149-112183149 - CHC799T COSM4953549 c.5540C>T p.S1847L Substitution - Missense 12:112228137-112228137 - TCGA-AG-A002-01 COSM259714 c.3098C>A p.S1033Y Substitution - Missense 12:112247050-112247050 - TCGA-C5-A7UC-01 COSM935224 c.4675C>A p.L1559I Substitution - Missense 12:112233060-112233060 - TCGA-33-6737-01 COSM692082 c.9746G>C p.R3249T Substitution - Missense 12:112179373-112179373 - I2L-P19Tb-Tumor-Biopsy COSM5361628 c.2604G>T p.R868R Substitution - coding silent 12:112250224-112250224 - 61 COSM5739808 c.11691G>T p.W3897C Substitution - Missense 12:112163205-112163205 - CSCC-31-T COSM4509076 c.7104C>T p.T2368T Substitution - coding silent 12:112203672-112203672 - UM-SCC-17B COSM1605588 c.2465T>G p.V822G Substitution - Missense 12:112250363-112250363 - LIM1215 COSM1948350 c.8458delG p.A2820fs*26 Deletion - Frameshift 12:112185242-112185242 - TCGA-CG-5733-01 COSM935234 c.4096C>T p.R1366* Substitution - Nonsense 12:112237027-112237027 - HCC125T COSM1605586 c.5254-10C>G p.? Unknown 12:112228821-112228821 - TCGA-G4-6588-01 COSM1358856 c.7872C>A p.G2624G Substitution - coding silent 12:112192714-112192714 - TCGA-AA-A01R-01 COSM5122869 c.10485G>A p.A3495A Substitution - coding silent 12:112172705-112172705 - HCC022T COSM5817665 c.7313G>T p.R2438L Substitution - Missense 12:112195055-112195055 - TCGA-B5-A11E-01 COSM935222 c.4771G>A p.A1591T Substitution - Missense 12:112231676-112231676 - pfg129T COSM4760212 c.3782G>A p.R1261H Substitution - Missense 12:112239938-112239938 - LUAD-E00934 COSM393207 c.1039A>G p.I347V Substitution - Missense 12:112266969-112266969 - LS174T COSM4645825 c.10814A>G p.Y3605C Substitution - Missense 12:112169631-112169631 - Pat_73_A COSM5840149 c.11146C>T p.P3716S Substitution - Missense 12:112167439-112167439 - TCGA-BS-A0UV-01 COSM935194 c.8490G>A p.T2830T Substitution - coding silent 12:112185210-112185210 - AML_14y_09_DX COSM5956434 c.7616C>T p.A2539V Substitution - Missense 12:112193542-112193542 - CSCC-35-T COSM4459403 c.10381C>T p.L3461L Substitution - coding silent 12:112172809-112172809 - TCGA-AD-6901-01 COSM1358836 c.10729A>T p.R3577W Substitution - Missense 12:112170390-112170390 - LIM2551 COSM1605582 c.8458_8459insG p.A2820fs*5 Insertion - Frameshift 12:112185241-112185242 - TCGA-EE-A2MQ-06 COSM3456245 c.2162C>T p.P721L Substitution - Missense 12:112252548-112252548 - TCGA-EE-A2MJ-06 COSM3456241 c.2781C>T p.F927F Substitution - coding silent 12:112248416-112248416 - CSCC-5-T COSM4508787 c.7008C>T p.L2336L Substitution - coding silent 12:112203768-112203768 - I2L-P7-Tumor-Organoid COSM5361829 c.10940C>T p.T3647I Substitution - Missense 12:112169505-112169505 - sysucc-1397T COSM5473305 c.9911C>T p.P3304L Substitution - Missense 12:112179208-112179208 - QC2-32-T2 COSM5021774 c.5080A>C p.R1694R Substitution - coding silent 12:112229871-112229871 - UPCI:SCC090 COSM1605580 c.9166A>C p.T3056P Substitution - Missense 12:112184534-112184534 - SCC-15 COSM1605588 c.2465T>G p.V822G Substitution - Missense 12:112250363-112250363 - BN24T COSM1605582 c.8458_8459insG p.A2820fs*5 Insertion - Frameshift 12:112185241-112185242 - CSCC-31-T COSM4565980 c.1965_1966CC>TT p.P656S Substitution - Missense 12:112256385-112256386 - TCGA-EE-A3AG-06 COSM3456243 c.2555C>T p.P852L Substitution - Missense 12:112250273-112250273 - PTC-7C COSM4146642 c.7550A>C p.N2517T Substitution - Missense 12:112193608-112193608 - TCGA-CK-4951-01 COSM5148051 c.11508C>T p.C3836C Substitution - coding silent 12:112163665-112163665 - 49M COSM5589879 c.6045C>T p.S2015S Substitution - coding silent 12:112216847-112216847 - TCGA-EE-A29L-06 COSM3456183 c.8946C>T p.I2982I Substitution - coding silent 12:112184754-112184754 - MO_1130 COSM5571030 c.6347T>C p.V2116A Substitution - Missense 12:112212503-112212503 - T2944 COSM4666739 c.10624A>G p.M3542V Substitution - Missense 12:112171159-112171159 - TCGA-BS-A0UF-01 COSM935176 c.10645G>A p.A3549T Substitution - Missense 12:112171138-112171138 - TCGA-NH-A5IV-01 COSM5181284 c.10591_10593delTTC p.F3531delF Deletion - In frame 12:112171190-112171192 - TCGA-EA-A439-01 COSM4843696 c.9257C>G p.S3086C Substitution - Missense 12:112184443-112184443 - CSCC-11-T COSM4523718 c.11440G>A p.E3814K Substitution - Missense 12:112163733-112163733 - TCGA-BQ-5894-01 COSM3986644 c.1996G>A p.D666N Substitution - Missense 12:112256355-112256355 - TCGA-B5-A0JY-01 COSM935250 c.2140G>T p.D714Y Substitution - Missense 12:112254054-112254054 - LUAD_E00522 COSM352426 c.1562C>G p.A521G Substitution - Missense 12:112261320-112261320 - S01873 COSM5672056 c.2920G>T p.D974Y Substitution - Missense 12:112248129-112248129 - CSCC-20-T COSM4496442 c.3889C>T p.R1297* Substitution - Nonsense 12:112239187-112239187 - TCGA-ER-A19W-06 COSM4398912 c.9126C>T p.P3042P Substitution - coding silent 12:112184574-112184574 - NOKSI COSM1605580 c.9166A>C p.T3056P Substitution - Missense 12:112184534-112184534 - TCGA-B5-A11E-01 COSM935234 c.4096C>T p.R1366* Substitution - Nonsense 12:112237027-112237027 - 587342 COSM1197995 c.7004G>A p.G2335D Substitution - Missense 12:112203772-112203772 - TCGA-GJ-A6C0-01 COSM4929965 c.8803G>C p.A2935P Substitution - Missense 12:112184897-112184897 - TCGA-AG-3878-01 COSM1476135 c.11840_11841insC p.D3948fs*44 Insertion - Frameshift 12:112163055-112163056 - TCGA-D3-A1Q6-06 COSM3456173 c.10030G>T p.V3344L Substitution - Missense 12:112178998-112178998 - TCGA-BS-A0UV-01 COSM1586181 c.9702C>T p.F3234F Substitution - coding silent 12:112183078-112183078 - 6115115 COSM5548789 c.4099G>T p.A1367S Substitution - Missense 12:112237024-112237024 - TCGA-GN-A266-06 COSM3456195 c.6807C>T p.F2269F Substitution - coding silent 12:112207932-112207932 - TCGA-23-1022-01 COSM86708 c.10511G>A p.C3504Y Substitution - Missense 12:112172679-112172679 - TCGA-DB-5281-01 COSM3967993 c.4139C>T p.A1380V Substitution - Missense 12:112236984-112236984 - TCGA-EB-A3XD-01 COSM3456163 c.11832C>T p.I3944I Substitution - coding silent 12:112163064-112163064 - pfg181T COSM1358824 c.11840delC p.P3947fs*21 Deletion - Frameshift 12:112163056-112163056 - WSU-HN8 COSM1605580 c.9166A>C p.T3056P Substitution - Missense 12:112184534-112184534 - TCGA-HU-A4G8-01 COSM3384039 c.3571C>T p.R1191W Substitution - Missense 12:112243474-112243474 - TCGA-BS-A0UL-01 COSM935208 c.6802C>T p.R2268C Substitution - Missense 12:112207937-112207937 - TCGA-B5-A11R-01 COSM935210 c.6637G>C p.E2213Q Substitution - Missense 12:112208595-112208595 - TCGA-A6-5661-01 COSM5088797 c.8285C>T p.T2762M Substitution - Missense 12:112185415-112185415 - N-Thy002 COSM5095430 c.10578A>C p.T3526T Substitution - coding silent 12:112171205-112171205 - TCGA-A6-3810-01 COSM1948506 c.4672C>T p.R1558* Substitution - Nonsense 12:112233063-112233063 - TCGA-A8-A0A6-01 COSM3811056 c.5337A>C p.P1779P Substitution - coding silent 12:112228728-112228728 - BICR_22 COSM1605580 c.9166A>C p.T3056P Substitution - Missense 12:112184534-112184534 - LS174T COSM1948556 c.3285C>T p.H1095H Substitution - coding silent 12:112243972-112243972 - TCGA-BR-4184-01 COSM935214 c.5710C>T p.R1904* Substitution - Nonsense 12:112219484-112219484 - HCT116 COSM1948668 c.227C>T p.A76V Substitution - Missense 12:112283229-112283229 - NOKSI COSM467808 c.10973T>G p.V3658G Substitution - Missense 12:112167887-112167887 - TCGA-BR-8372-01 COSM4038838 c.6266A>G p.K2089R Substitution - Missense 12:112212584-112212584 - TCGA-CA-6718-01 COSM1358860 c.6967G>A p.E2323K Substitution - Missense 12:112204522-112204522 - T3021 COSM4666759 c.6204C>T p.D2068D Substitution - coding silent 12:112212646-112212646 - ESCC_151 COSM5645140 c.7887A>T p.R2629R Substitution - coding silent 12:112192699-112192699 - TCGA-D5-6530-01 COSM5162243 c.193C>T p.R65C Substitution - Missense 12:112283263-112283263 - 12M COSM5577291 c.1785C>T p.S595S Substitution - coding silent 12:112258543-112258543 - TCGA-EE-A29E-06 COSM3456171 c.10481C>T p.P3494L Substitution - Missense 12:112172709-112172709 - CSCC-7-T COSM4458499 c.10022C>T p.P3341L Substitution - Missense 12:112179006-112179006 - 2293782 COSM4608415 c.8203C>A p.L2735I Substitution - Missense 12:112190789-112190789 - TCGA-DM-A1HB-01 COSM5168519 c.4213G>T p.A1405S Substitution - Missense 12:112235750-112235750 - sysucc-1397T COSM5473303 c.10328G>T p.R3443M Substitution - Missense 12:112175736-112175736 - CRC-20T COSM1605580 c.9166A>C p.T3056P Substitution - Missense 12:112184534-112184534 - BHY COSM1605580 c.9166A>C p.T3056P Substitution - Missense 12:112184534-112184534 - HT55 COSM4203326 c.6728A>T p.D2243V Substitution - Missense 12:112208504-112208504 - CHC155T COSM3667089 c.4191T>G p.G1397G Substitution - coding silent 12:112235772-112235772 - TCGA-AA-3821-01 COSM294181 c.4948C>T p.R1650C Substitution - Missense 12:112230809-112230809 - TCGA-AP-A059-01 COSM935232 c.4301C>T p.A1434V Substitution - Missense 12:112235662-112235662 - 189-01-1TD COSM1316991 c.8560A>C p.T2854P Substitution - Missense 12:112185140-112185140 - TCGA-DA-A1HW-06 COSM1706295 c.2135C>T p.P712L Substitution - Missense 12:112254059-112254059 - LUAD-QCHM7 COSM377132 c.9535G>C p.E3179Q Substitution - Missense 12:112183245-112183245 - TCGA-A6-2686-01 COSM5084409 c.4633C>A p.L1545I Substitution - Missense 12:112235093-112235093 - PD4947a COSM3719359 c.4423C>T p.L1475L Substitution - coding silent 12:112235540-112235540 - T613 COSM4666767 c.2111G>A p.R704H Substitution - Missense 12:112254083-112254083 - TCGA-BT-A2LA-01 COSM1298929 c.1970G>T p.G657V Substitution - Missense 12:112256381-112256381 - Pat_26_B COSM5840159 c.4367C>T p.P1456L Substitution - Missense 12:112235596-112235596 - T3090 COSM4666737 c.10811_10813delCCT p.S3604delS Deletion - In frame 12:112169632-112169634 - TCGA-A6-6653-01 COSM1358834 c.10854G>A p.S3618S Substitution - coding silent 12:112169591-112169591 - TCGA-AC-A23H-01 COSM3811066 c.318C>G p.I106M Substitution - Missense 12:112283138-112283138 - OSCC-GB_00600111 COSM4890122 c.11302G>T p.A3768S Substitution - Missense 12:112164242-112164242 - TCGA-A3-3374-01 COSM1492818 c.1787C>T p.P596L Substitution - Missense 12:112258541-112258541 - CSCC-49-T COSM4509614 c.7257C>T p.T2419T Substitution - coding silent 12:112200682-112200682 - TCGA-EE-A2GC-06 COSM3456179 c.9187G>A p.A3063T Substitution - Missense 12:112184513-112184513 - TCGA-AG-A002-01 COSM259712 c.6000C>T p.I2000I Substitution - coding silent 12:112216892-112216892 - CSCC-44-T COSM4541819 c.2212G>C p.E738Q Substitution - Missense 12:112252498-112252498 - PCSI_0083_Pa_X COSM3376123 c.4252C>T p.R1418C Substitution - Missense 12:112235711-112235711 - BCB307T COSM4955809 c.2430G>A p.L810L Substitution - coding silent 12:112250991-112250991 - STC263 COSM5051345 c.7183G>T p.G2395C Substitution - Missense 12:112200756-112200756 - TCGA-AA-3681-01 COSM268041 c.4352G>T p.W1451L Substitution - Missense 12:112235611-112235611 - DLD1 COSM1948189 c.11840_11841insCC p.D3948fs*21 Insertion - Frameshift 12:112163055-112163056 - ACINAR01 COSM1732854 c.7968delC p.T2657fs*79 Deletion - Frameshift 12:112192618-112192618 - ZZUFHECRKL-G067T COSM1948203 c.11311G>A p.A3771T Substitution - Missense 12:112164233-112164233 - TCGA-A6-6781-01 COSM1358826 c.11839_11840delCC p.P3947fs*44 Deletion - Frameshift 12:112163056-112163057 - BHY COSM1605588 c.2465T>G p.V822G Substitution - Missense 12:112250363-112250363 - TCGA-AX-A064-01 COSM935188 c.9759G>A p.T3253T Substitution - coding silent 12:112179360-112179360 - 93VU147T COSM467808 c.10973T>G p.V3658G Substitution - Missense 12:112167887-112167887 - Pat_40_A COSM5840155 c.5758C>T p.R1920W Substitution - Missense 12:112219436-112219436 - TCGA-BP-4993-01 COSM467812 c.4460-1G>T p.? Unknown 12:112235267-112235267 - CRC-06T COSM5456261 c.7857C>T p.L2619L Substitution - coding silent 12:112192729-112192729 - Sample_1 COSM5021774 c.5080A>C p.R1694R Substitution - coding silent 12:112229871-112229871 - TCGA-AZ-6598-01 COSM1358846 c.8706G>A p.S2902S Substitution - coding silent 12:112184994-112184994 - CSCC-7-T COSM4466278 c.561C>T p.I187I Substitution - coding silent 12:112273740-112273740 - TCGA-CG-4476-01 COSM4038816 c.11785G>C p.D3929H Substitution - Missense 12:112163111-112163111 - TCGA-IR-A3LH-01 COSM4833499 c.10784G>A p.G3595E Substitution - Missense 12:112170335-112170335 - tumor_4131095 COSM5948769 c.671T>C p.V224A Substitution - Missense 12:112270435-112270435 - TCGA-K4-A3WV-01 COSM3792201 c.4731G>C p.K1577N Substitution - Missense 12:112233004-112233004 - KPOPBR-03-T COSM5965120 c.9100G>C p.E3034Q Substitution - Missense 12:112184600-112184600 - 2492720 COSM5724147 c.1621C>T p.H541Y Substitution - Missense 12:112259222-112259222 - TCGA-EE-A29V-06 COSM3456229 c.4365C>T p.V1455V Substitution - coding silent 12:112235598-112235598 - KM12 COSM1948670 c.216G>A p.E72E Substitution - coding silent 12:112283240-112283240 - TCGA-66-2793-01 COSM692066 c.4798C>T p.Q1600* Substitution - Nonsense 12:112231649-112231649 - PD11394a COSM5783043 c.9480C>T p.A3160A Substitution - coding silent 12:112184220-112184220 - TCGA-B5-A11E-01 COSM935206 c.6830C>T p.S2277L Substitution - Missense 12:112207909-112207909 - TCGA-FS-A1ZZ-06 COSM3456237 c.3710G>A p.C1237Y Substitution - Missense 12:112240010-112240010 - CHC304T COSM5348462 c.1432_1433insG p.E479fs*24 Insertion - Frameshift 12:112264103-112264104 - 631060 COSM318999 c.9715A>G p.I3239V Substitution - Missense 12:112183065-112183065 - TCGA-AA-3510-01 COSM279261 c.2542G>T p.E848* Substitution - Nonsense 12:112250286-112250286 - SCMC_RM2_ COSM1948366 c.8179G>A p.V2727I Substitution - Missense 12:112190813-112190813 - HCC22T COSM3456237 c.3710G>A p.C1237Y Substitution - Missense 12:112240010-112240010 - pfg065T COSM4524105 c.11668G>A p.D3890N Substitution - Missense 12:112163228-112163228 - TCGA-D3-A51G-06 COSM3456211 c.6247C>T p.P2083S Substitution - Missense 12:112212603-112212603 - CRC-8 COSM304526 c.7797A>C p.E2599D Substitution - Missense 12:112193084-112193084 - 587376 COSM1198005 c.1688C>T p.A563V Substitution - Missense 12:112259155-112259155 - LUAD-S01356 COSM397970 c.2227C>G p.R743G Substitution - Missense 12:112252483-112252483 - Pat_54_A COSM5840173 c.1112G>T p.G371V Substitution - Missense 12:112265968-112265968 - BD72T COSM1358824 c.11840delC p.P3947fs*21 Deletion - Frameshift 12:112163056-112163056 - LUAD-S01306 COSM385538 c.1787C>A p.P596Q Substitution - Missense 12:112258541-112258541 - STC291 COSM1948350 c.8458delG p.A2820fs*26 Deletion - Frameshift 12:112185242-112185242 - D01 COSM259712 c.6000C>T p.I2000I Substitution - coding silent 12:112216892-112216892 - PT46 COSM1948473 c.5854C>T p.R1952* Substitution - Nonsense 12:112217150-112217150 - TCGA-EE-A29P-06 COSM3456181 c.9056C>T p.T3019I Substitution - Missense 12:112184644-112184644 - J73_T COSM3954195 c.9870C>A p.T3290T Substitution - coding silent 12:112179249-112179249 - C135 COSM4617294 c.9750G>T p.E3250D Substitution - Missense 12:112179369-112179369 - BK0043 COSM4187527 c.11038A>G p.K3680E Substitution - Missense 12:112167822-112167822 - S02397 COSM5699057 c.7004-1G>T p.? Unknown 12:112203773-112203773 - PT36 COSM5916168 c.4717C>T p.R1573* Substitution - Nonsense 12:112233018-112233018 - TCGA-AA-A01P-01 COSM4038844 c.4949G>A p.R1650H Substitution - Missense 12:112230808-112230808 - OSCC-GB_00110111 COSM3710683 c.6410C>A p.A2137E Substitution - Missense 12:112210206-112210206 - Pat_76_B COSM5840165 c.2168_2169CC>TT p.S723F Substitution - Missense 12:112252541-112252542 - TCGA-60-2713-01 COSM692054 c.2796A>G p.E932E Substitution - coding silent 12:112248401-112248401 - TCGA-CZ-5988-01 COSM467808 c.10973T>G p.V3658G Substitution - Missense 12:112167887-112167887 - TCGA-66-2791-01 COSM692048 c.1883C>A p.P628H Substitution - Missense 12:112256468-112256468 - CRC-10T COSM5456261 c.7857C>T p.L2619L Substitution - coding silent 12:112192729-112192729 - CPCG0269-F1 COSM4880336 c.976A>G p.K326E Substitution - Missense 12:112269753-112269753 - pfg212T COSM4747774 c.3575delG p.G1192fs*15 Deletion - Frameshift 12:112243470-112243470 - TCGA-ER-A194-01 COSM3456225 c.4571C>T p.A1524V Substitution - Missense 12:112235155-112235155 - WSU-HN12 COSM1605588 c.2465T>G p.V822G Substitution - Missense 12:112250363-112250363 - SNU-C4 COSM4652137 c.11590C>T p.R3864C Substitution - Missense 12:112163583-112163583 - TCGA-D5-6928-01 COSM4666759 c.6204C>T p.D2068D Substitution - coding silent 12:112212646-112212646 - TCGA-CM-6171-01 COSM1358844 c.9477C>T p.L3159L Substitution - coding silent 12:112184223-112184223 - H2009 COSM1193948 c.5230A>G p.I1744V Substitution - Missense 12:112229721-112229721 - AOCS-158-1-6 COSM3980770 c.6328G>T p.G2110C Substitution - Missense 12:112212522-112212522 - TCGA-D1-A103-01 COSM935196 c.8165C>T p.T2722I Substitution - Missense 12:112190827-112190827 - 587316 COSM1197987 c.9148A>T p.S3050C Substitution - Missense 12:112184552-112184552 - TCGA-EB-A3Y6-01 COSM3456207 c.6368C>T p.T2123I Substitution - Missense 12:112210248-112210248 - TCGA-AP-A0L8-01 COSM935198 c.8033C>G p.S2678C Substitution - Missense 12:112190959-112190959 - PTC-28C COSM4146640 c.8357G>C p.C2786S Substitution - Missense 12:112185343-112185343 - TCGA-F4-6460-01 COSM1358854 c.7925C>T p.P2642L Substitution - Missense 12:112192661-112192661 - WSU-HN8 COSM467808 c.10973T>G p.V3658G Substitution - Missense 12:112167887-112167887 - TCGA-HU-A4GQ-01 COSM1948243 c.10744G>A p.A3582T Substitution - Missense 12:112170375-112170375 - TCGA-F1-6177-01 COSM4038847 c.4256C>A p.P1419Q Substitution - Missense 12:112235707-112235707 - 587376 COSM1198007 c.241G>T p.E81* Substitution - Nonsense 12:112283215-112283215 - TCGA-FC-7708-01 COSM1470498 c.4228C>T p.L1410F Substitution - Missense 12:112235735-112235735 - TCGA-AD-A5EJ-01 COSM4639834 c.3799G>A p.A1267T Substitution - Missense 12:112239921-112239921 - TCGA-AA-3864-01 COSM5114391 c.6564A>G p.P2188P Substitution - coding silent 12:112210052-112210052 - C0041T COSM4166053 c.9773G>A p.S3258N Substitution - Missense 12:112179346-112179346 - 11T COSM3710683 c.6410C>A p.A2137E Substitution - Missense 12:112210206-112210206 - CSCC-40-T COSM4553557 c.5083G>A p.A1695T Substitution - Missense 12:112229868-112229868 - RK308_C01 COSM3739431 c.6865+7T>C p.? Unknown 12:112207867-112207867 - 587260 COSM1197983 c.6701A>T p.D2234V Substitution - Missense 12:112208531-112208531 - 86587 COSM94325 c.10046G>C p.R3349P Substitution - Missense 12:112178982-112178982 - 8057600 COSM3384037 c.8053C>G p.L2685V Substitution - Missense 12:112190939-112190939 - J80_T COSM3954205 c.1652T>C p.M551T Substitution - Missense 12:112259191-112259191 - PD4119a COSM4810446 c.3073G>C p.E1025Q Substitution - Missense 12:112247075-112247075 - OSCC-GB_00990111 COSM4885723 c.11865C>A p.D3955E Substitution - Missense 12:112162513-112162513 - U2940 COSM5620945 c.1057A>G p.T353A Substitution - Missense 12:112266951-112266951 - TCGA-41-3392-01 COSM3747909 c.9640G>C p.V3214L Substitution - Missense 12:112183140-112183140 - BD236T COSM5181284 c.10591_10593delTTC p.F3531delF Deletion - In frame 12:112171190-112171192 - UM-SCC-17B COSM1605580 c.9166A>C p.T3056P Substitution - Missense 12:112184534-112184534 - I2L-P19Tb-Tumor-Organoid COSM5361628 c.2604G>T p.R868R Substitution - coding silent 12:112250224-112250224 - ESCC_BICR_024T COSM5440842 c.8077G>C p.E2693Q Substitution - Missense 12:112190915-112190915 - NOKSI COSM1605588 c.2465T>G p.V822G Substitution - Missense 12:112250363-112250363 - PTC-515C COSM1605588 c.2465T>G p.V822G Substitution - Missense 12:112250363-112250363 - TCGA-AA-3811-01 COSM5108751 c.4253G>A p.R1418H Substitution - Missense 12:112235710-112235710 - TCGA-AZ-6600-01 COSM1358858 c.7243C>T p.R2415* Substitution - Nonsense 12:112200696-112200696 - LOVO COSM1948522 c.3863G>A p.R1288H Substitution - Missense 12:112239213-112239213 - SW48 COSM1948467 c.5894T>C p.F1965S Substitution - Missense 12:112217110-112217110 - TCGA-A8-A095-01 COSM430364 c.2140G>C p.D714H Substitution - Missense 12:112254054-112254054 - TCGA-F4-6570-01 COSM5171825 c.2515C>T p.L839L Substitution - coding silent 12:112250313-112250313 - I2L-P26-Tumor-Organoid COSM5361785 c.7325C>T p.A2442V Substitution - Missense 12:112195043-112195043 - SCC-9 COSM1605580 c.9166A>C p.T3056P Substitution - Missense 12:112184534-112184534 - HCT15 COSM4632601 c.9387C>A p.S3129R Substitution - Missense 12:112184313-112184313 - TCGA-D7-6528-01 COSM4038826 c.7731C>T p.S2577S Substitution - coding silent 12:112193150-112193150 - TCGA-IR-A3LA-01 COSM4844540 c.11283C>T p.T3761T Substitution - coding silent 12:112164261-112164261 - TCGA-AY-4071-01 COSM1476135 c.11840_11841insC p.D3948fs*44 Insertion - Frameshift 12:112163055-112163056 - T1154 COSM1948310 c.9084C>T p.G3028G Substitution - coding silent 12:112184616-112184616 - TCGA-BR-8591-01 COSM4038830 c.7269C>T p.V2423V Substitution - coding silent 12:112200670-112200670 - ESCC_BICR_007T COSM5434051 c.1374C>T p.L458L Substitution - coding silent 12:112264162-112264162 - T613 COSM4666763 c.4824G>A p.G1608G Substitution - coding silent 12:112231623-112231623 - TCGA-AG-A01N-01 COSM5073487 c.9348T>C p.I3116I Substitution - coding silent 12:112184352-112184352 - ESO-161 COSM1246419 c.1171C>T p.R391* Substitution - Nonsense 12:112265909-112265909 - CSCC-27-T COSM4483741 c.1866C>T p.L622L Substitution - coding silent 12:112256485-112256485 - ESCC_BICR_051T COSM3811064 c.702G>A p.A234A Substitution - coding silent 12:112270404-112270404 - TCGA-EE-A20C-06 COSM3456235 c.3860T>C p.V1287A Substitution - Missense 12:112239216-112239216 - CSCC-54-T COSM4511257 c.7762C>T p.P2588S Substitution - Missense 12:112193119-112193119 - BD165T COSM1948350 c.8458delG p.A2820fs*26 Deletion - Frameshift 12:112185242-112185242 - TCGA-D3-A2JL-06 COSM3456223 c.4599C>T p.I1533I Substitution - coding silent 12:112235127-112235127 - STC252 COSM5051347 c.6883C>T p.R2295* Substitution - Nonsense 12:112204606-112204606 - TCGA-A8-A07R-01 COSM430360 c.3727C>G p.Q1243E Substitution - Missense 12:112239993-112239993 - CSCC-49-T COSM4510123 c.7416C>T p.A2472A Substitution - coding silent 12:112194952-112194952 - TCGA-AG-A023-01 COSM5073869 c.3890G>T p.R1297L Substitution - Missense 12:112239186-112239186 - TCGA-06-0878-01 COSM3398362 c.1101G>A p.E367E Substitution - coding silent 12:112265979-112265979 - TCGA-GF-A3OT-06 COSM259712 c.6000C>T p.I2000I Substitution - coding silent 12:112216892-112216892 - LC_S11 COSM1188614 c.7816A>T p.K2606* Substitution - Nonsense 12:112193065-112193065 - KPOPBR-03-T COSM5964986 c.10833G>A p.R3611R Substitution - coding silent 12:112169612-112169612 - 1N49-VS-1T49 COSM4976421 c.6601+1G>T p.? Unknown 12:112210014-112210014 - TCGA-AG-A00C-01 COSM1476135 c.11840_11841insC p.D3948fs*44 Insertion - Frameshift 12:112163055-112163056 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.530943 12q24.13 1512053|dbSNP|BC006270|C/T|non-coding||2704|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.C3949G c.11845T>G 12 112605647 OV A C Missense p.F1203V c.3607T>G 12 112686222 UCEC A C Missense p.S682R c.2046T>G 12 112703702 CM - A Frameshift p.C1535Vfs*11 c.4601dupT 12 112677751 THCA - A Frameshift p.V225Cfs*5 c.672dupT 12 112746617 HC A G IntronicSNV . c.2311-123T>C 12 112699356 CM A G IntronicSNV . c.903+1255T>C 12 112742613 CLL A G Missense p.S416P c.1246T>C 12 112717041 PRAD A G Missense p.V1563A c.4688T>C 12 112677020 CM A G Missense p.V582A c.1745T>C 12 112707652 BRCA A G Missense p.Y697H c.2089T>C 12 112703077 UCEC A G SpliceDonorSNV . c.6246+2T>C 12 112666449 BLCA A G Synonymous p.A1938A c.5814T>C 12 112668575 UCEC A T Missense p.D1758E c.5274T>A 12 112673321 CM A T Missense p.F3462I c.10384T>A 12 112621028 STAD A T Missense p.L3470M c.10408T>A 12 112621004 COREAD A T Missense p.V2615E c.7844T>A 12 112641564 LUAD C A IntronicSNV . c.1-62332G>T 12 112819623 CLL C A Missense p.C3349F c.10046G>T 12 112622286 LUAD C A Missense p.D2798Y c.8392G>T 12 112631398 UCEC C A Missense p.E3861D c.11583G>T 12 112608168 OV C A Missense p.G2248V c.6743G>T 12 112654893 LUAD C A Missense p.G2280V c.6839G>T 12 112654685 LUAD C A Missense p.G2374W c.7120G>T 12 112650362 LUAD C A Missense p.G4161W c.12481G>T 12 112601047 UCEC C A Missense p.G943V c.2828G>T 12 112694185 BLCA C A Missense p.R1464S c.4392G>T 12 112681285 LUAD C A Missense p.R2139I c.6416G>T 12 112665893 LUAD C A Missense p.R2376L c.7127G>T 12 112650355 LUAD C A Missense p.V3620L c.10858G>T 12 112616802 CM C A Missense p.W1727L c.5180G>T 12 112673415 COREAD C A Nonsense p.E1526* c.4576G>T 12 112677776 STAD C A SpliceAcceptorSNV . c.5288-1G>T 12 112673071 RCCC C A Synonymous p.P1110P c.3330G>T 12 112688130 LUSC C A Synonymous p.T509T c.1527G>T 12 112708247 LUAD C G Missense p.A3339P c.10015G>C 12 112622317 LUSC C G Missense p.C3883S c.11648G>C 12 112607429 BRCA C G Missense p.D1000H c.2998G>C 12 112691858 BRCA C G Missense p.D4205H c.12613G>C 12 112600915 STAD C G Missense p.E1207Q c.3619G>C 12 112686210 BRCA C G Missense p.E1301Q c.3901G>C 12 112684879 BRCA C G Missense p.E2156Q c.6466G>C 12 112664513 BLCA C G Missense p.E2489Q c.7465G>C 12 112646399 UCEC C G Missense p.E2548Q c.7642G>C 12 112645729 BRCA C G Missense p.E3687Q c.11059G>C 12 112613637 UCEC C G Missense p.R3525T c.10574G>C 12 112617177 LUSC C G Missense p.R950T c.2849G>C 12 112694164 BLCA C G Missense p.S1578T c.4733G>C 12 112676975 BRCA C G Missense p.V3490L c.10468G>C 12 112620944 GBM C G Synonymous p.L850L c.2550G>C 12 112696955 BLCA C G Synonymous p.P3992P c.11976G>C 12 112605241 HNSC C T IntronicSNV . c.2590-105G>A 12 112696505 CM C T Missense p.A1867T c.5599G>A 12 112669480 UCEC C T Missense p.A2098T c.6292G>A 12 112666017 UCEC C T Missense p.A3211T c.9631G>A 12 112622701 STAD C T Missense p.A3339T c.10015G>A 12 112622317 CM C T Missense p.A3771T c.11311G>A 12 112610511 UCEC C T Missense p.A780T c.2338G>A 12 112699206 HNSC C T Missense p.C1513Y c.4538G>A 12 112677814 CM C T Missense p.C3780Y c.11339G>A 12 112610483 OV C T Missense p.D3238N c.9712G>A 12 112622620 BRCA C T Missense p.D3238N c.9712G>A 12 112622620 LUAD C T Missense p.D363N c.1087G>A 12 112720923 COREAD C T Missense p.E1284K c.3850G>A 12 112685315 BLCA C T Missense p.E1813K c.5437G>A 12 112672921 LUSC C T Missense p.E324K c.970G>A 12 112721040 GBM C T Missense p.E3414K c.10240G>A 12 112622092 LUSC C T Missense p.E624K c.1870G>A 12 112707527 BLCA C T Missense p.G1150E c.3449G>A 12 112688011 HNSC C T Missense p.G2023E c.6068G>A 12 112667515 LUSC C T Missense p.G2355E c.7064G>A 12 112650418 CM C T Missense p.G2374E c.7121G>A 12 112650361 MM C T Missense p.G2499S c.7495G>A 12 112646369 CM C T Missense p.G988S c.2962G>A 12 112691894 CM C T Missense p.M1015I c.3045G>A 12 112690297 HNSC C T Missense p.M1230I c.3690G>A 12 112686139 LUAD C T Missense p.M4218I c.12654G>A 12 112600874 LUAD C T Missense p.R1067K c.3200G>A 12 112688853 CM C T Missense p.R1400K c.4199G>A 12 112681690 BLCA C T Missense p.R1708Q c.5123G>A 12 112673472 LUSC C T Missense p.R2075K c.6224G>A 12 112666473 HNSC C T Missense p.R2675Q c.8024G>A 12 112638547 COREAD C T Missense p.R2881H c.8642G>A 12 112630871 UCEC C T Missense p.R4196H c.12587G>A 12 112600941 THCA C T Missense p.V2471M c.7411G>A 12 112647837 ESCA C T Missense p.V3358I c.10072G>A 12 112622260 CM C T Missense p.V3725I c.11173G>A 12 112610649 HNSC C T Missense p.V520I c.1558G>A 12 112708216 LUAD C T Nonsense p.W278* c.834G>A 12 112743937 OV C T SpliceAcceptorSNV . c.11348-1G>A 12 112609068 BLCA C T SpliceAcceptorSNV . c.6637-1G>A 12 112655000 UCEC C T Synonymous p.A865A c.2595G>A 12 112696395 STAD C T Synonymous p.E1039E c.3117G>A 12 112688936 CM C T Synonymous p.E655E c.1965G>A 12 112703783 GBM C T Synonymous p.G2122G c.6366G>A 12 112665943 HNSC C T Synonymous p.K3600K c.10800G>A 12 112616860 CM C T Synonymous p.K4219K c.12657G>A 12 112600871 LUAD C T Synonymous p.L2084L c.6252G>A 12 112666057 LUSC C T Synonymous p.R3166R c.9498G>A 12 112622834 COREAD C T Synonymous p.S3145S c.9435G>A 12 112622897 GBM C T Synonymous p.T2831T c.8493G>A 12 112631297 CM C T Synonymous p.T3529T c.10587G>A 12 112617164 UCEC C T Synonymous p.V1845V c.5535G>A 12 112670832 LUSC C T Synonymous p.V2338V c.7014G>A 12 112654109 BRCA GAG - InFrameDeletion p.S3152delS c.9447_9449delCTC 12 112622883 PRAD G A IntronicSNV . c.2590-60C>T 12 112696460 CM G A IntronicSNV . c.3010-20C>T 12 112690352 CM G A Missense p.A1251V c.3752C>T 12 112685929 STAD G A Missense p.A1656V c.4967C>T 12 112674788 LGG G A Missense p.A1800V c.5399C>T 12 112672959 CM G A Missense p.A3547V c.10640C>T 12 112617111 HNSC G A Missense p.A3830V c.11489C>T 12 112608926 CM G A Missense p.A968V c.2903C>T 12 112691953 STAD G A Missense p.H3921Y c.11761C>T 12 112607316 CM G A Missense p.L1686F c.5056C>T 12 112673539 PRAD G A Missense p.L1879F c.5635C>T 12 112669444 CM G A Missense p.L2769F c.8305C>T 12 112632695 LUSC G A Missense p.L3557F c.10669C>T 12 112617082 UCEC G A Missense p.P1128L c.3383C>T 12 112688077 CM G A Missense p.P1695L c.5084C>T 12 112673511 HNSC G A Missense p.P1823L c.5468C>T 12 112672890 CM G A Missense p.P2268L c.6803C>T 12 112654721 CM G A Missense p.P2679L c.8036C>T 12 112638535 CM G A Missense p.P3375S c.10123C>T 12 112622209 CM G A Missense p.P3599S c.10795C>T 12 112616865 CM G A Missense p.P4214S c.12640C>T 12 112600888 UCEC G A Missense p.P4230S c.12688C>T 12 112600322 CM G A Missense p.P998L c.2993C>T 12 112691863 CM G A Missense p.R1161C c.3481C>T 12 112687979 BRCA G A Missense p.R1466W c.4396C>T 12 112681281 UCEC G A Missense p.R2419C c.7255C>T 12 112647993 CM G A Missense p.R2544C c.7630C>T 12 112645741 UCEC G A Missense p.R2750W c.8248C>T 12 112632752 PRAD G A Missense p.R3210C c.9628C>T 12 112622704 ESCA G A Missense p.R3625W c.10873C>T 12 112616787 RCCC G A Missense p.S1910F c.5729C>T 12 112669350 CM G A Missense p.S3393F c.10178C>T 12 112622154 CM G A Missense p.T3295I c.9884C>T 12 112622448 CM G A Nonsense p.Q1242* c.3724C>T 12 112685957 LUSC G A Nonsense p.Q1876* c.5626C>T 12 112669453 LUSC G A Nonsense p.Q3939* c.11815C>T 12 112605677 BLCA G A Nonsense p.R1642* c.4924C>T 12 112674831 STAD G A Nonsense p.R1849* c.5545C>T 12 112670822 BRCA G A Nonsense p.R2542* c.7624C>T 12 112645747 CM G A Nonsense p.R2609* c.7825C>T 12 112642296 CM G A Nonsense p.R2675* c.8023C>T 12 112638548 LUAD G A Nonsense p.R3845* c.11533C>T 12 112608218 CM G A Nonsense p.R679* c.2035C>T 12 112703713 ESCA G A Synonymous p.A2006A c.6018C>T 12 112667565 CM G A Synonymous p.A2008A c.6024C>T 12 112667559 HNSC G A Synonymous p.A3368A c.10104C>T 12 112622228 HNSC G A Synonymous p.F1203F c.3609C>T 12 112686220 CM G A Synonymous p.F2732F c.8196C>T 12 112632804 CM G A Synonymous p.F3978F c.11934C>T 12 112605283 HNSC G A Synonymous p.I1809I c.5427C>T 12 112672931 CM G A Synonymous p.I2749I c.8247C>T 12 112632753 CM G A Synonymous p.I3258I c.9774C>T 12 112622558 CM G A Synonymous p.L1570L c.4710C>T 12 112676998 CM G A Synonymous p.L256L c.768C>T 12 112744003 LUAD G A Synonymous p.L2764L c.8292C>T 12 112632708 LUSC G A Synonymous p.L3290L c.9868C>T 12 112622464 CM G A Synonymous p.L784L c.2350C>T 12 112699194 CM G A Synonymous p.L801L c.2403C>T 12 112699141 HNSC G A Synonymous p.P2252P c.6756C>T 12 112654880 LUSC G A Synonymous p.P257P c.771C>T 12 112744000 CM G A Synonymous p.P3776P c.11328C>T 12 112610494 CM G A Synonymous p.P3817P c.11451C>T 12 112608964 BLCA G A Synonymous p.R1036R c.3108C>T 12 112690234 UCEC G A Synonymous p.S2853S c.8559C>T 12 112630954 STAD G A Synonymous p.S3196S c.9588C>T 12 112622744 GBM G A Synonymous p.S3344S c.10032C>T 12 112622300 UCEC G A Synonymous p.S4058S c.12174C>T 12 112602002 HNSC G A Synonymous p.T2401T c.7203C>T 12 112648045 CM G A Synonymous p.T2453T c.7359C>T 12 112647889 CM G A Synonymous p.T2540T c.7620C>T 12 112645751 CM G A Synonymous p.V1488V c.4464C>T 12 112681213 HNSC G A Synonymous p.V1731V c.5193C>T 12 112673402 CM G C IntronicSNV . c.903+4101C>G 12 112739767 NSCLC G C Missense p.A3859G c.11576C>G 12 112608175 CM G C Missense p.Q1519E c.4555C>G 12 112677797 BRCA G C Missense p.S2954C c.8861C>G 12 112628763 UCEC G C Missense p.S717C c.2150C>G 12 112703016 HNSC G C Nonsense p.S471* c.1412C>G 12 112711557 HNSC G C Synonymous p.G2349G c.7047C>G 12 112650435 RCCC G C Synonymous p.G3568G c.10704C>G 12 112617047 COREAD G C Synonymous p.L724L c.2172C>G 12 112702994 UCEC G C Synonymous p.T1118T c.3354C>G 12 112688106 RCCC G C Synonymous p.V1338V c.4014C>G 12 112684766 HNSC G C Synonymous p.V3552V c.10656C>G 12 112617095 LGG G - Frameshift p.A3437Pfs*12 c.10308delC 12 112622024 LUAD - G Frameshift p.D4224Rfs*44 c.12668dupC 12 112600860 BRCA - G Frameshift p.D4224Rfs*44 c.12668dupC 12 112600860 STAD G - Frameshift p.P2203Hfs*87 c.6608delC 12 112657218 BRCA G - Frameshift p.P4223Qfs*21 c.12668delC 12 112600860 CM GG AA Missense p.P3311L c.9932_9933delinsTT 12 112622399 CM G - IntronicDeletion . c.4211+54delC 12 112681624 ESCA G T Missense p.P1695Q c.5084C>A 12 112673511 STAD G T Missense p.P2358H c.7073C>A 12 112650409 RCCC G T Missense p.P914H c.2741C>A 12 112694272 LUSC G T Missense p.Q856K c.2566C>A 12 112696939 STAD G T Missense p.R736S c.2206C>A 12 112701998 BRCA G T Synonymous p.I3756I c.11268C>A 12 112610554 CM G T Synonymous p.S1899S c.5697C>A 12 112669382 COREAD G T Synonymous p.S3177S c.9531C>A 12 112622801 LUAD G T Synonymous p.T3489T c.10467C>A 12 112620945 CM T A Missense p.H744L c.2231A>T 12 112701973 LUAD T A Missense p.K3958M c.11873A>T 12 112605619 GBM T C Missense p.I1170M c.3510A>G 12 112687950 LUSC T C Missense p.I3487V c.10459A>G 12 112620953 COREAD T C Missense p.I3515V c.10543A>G 12 112620869 SCLC T C Missense p.M1973V c.5917A>G 12 112667666 OV T C Missense p.M565V c.1693A>G 12 112708081 COREAD T C Missense p.N3464S c.10391A>G 12 112621021 HC T C Missense p.N358S c.1073A>G 12 112720937 BLCA T C Missense p.Y2372C c.7115A>G 12 112650367 STAD T C Synonymous p.E1208E c.3624A>G 12 112686205 LUSC T C Synonymous p.P3504P c.10512A>G 12 112620900 CM T C Synonymous p.P3663P c.10989A>G 12 112614443 NB T G Synonymous p.R3594R c.10780A>C 12 112616880 STAD