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 19 56203229 56203229 + Missense_Mutation SNP C C T TCGA-OR-A5KU-01A-11D-A29I-10 TCGA-OR-A5KU-10A-01D-A29L-10 g.chr19:56203229C>T c.872C>T c.(871-873)cCc>cTc p.P291L BLCA 19 56190131 56190131 + Silent SNP C C G TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr19:56190131C>G c.138C>G c.(136-138)ctC>ctG p.L46L BLCA 19 56200276 56200276 + Silent SNP G G A TCGA-BT-A42B-01A-32D-A23M-08 TCGA-BT-A42B-10A-01D-A23K-08 g.chr19:56200276G>A c.519G>A c.(517-519)gcG>gcA p.A173A BLCA 19 56204330 56204330 + Silent SNP C C T TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 g.chr19:56204330C>T c.1191C>T c.(1189-1191)ttC>ttT p.F397F BLCA 19 56206537 56206537 + Missense_Mutation SNP G G A TCGA-E7-A7DU-01A-11D-A32B-08 TCGA-E7-A7DU-10A-01D-A329-08 g.chr19:56206537G>A c.1546G>A c.(1546-1548)Gtc>Atc p.V516I BLCA 19 56206575 56206575 + Silent SNP C C T TCGA-ZF-AA4R-01A-11D-A38G-08 TCGA-ZF-AA4R-10A-01D-A38J-08 g.chr19:56206575C>T c.1584C>T c.(1582-1584)ctC>ctT p.L528L BLCA 19 56206596 56206596 + Silent SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 g.chr19:56206596C>G c.1605C>G c.(1603-1605)ctC>ctG p.L535L BRCA 19 56189070 56189070 + Intron SNP C C G TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 g.chr19:56189070C>G BRCA 19 56190004 56190004 + Missense_Mutation SNP C C T TCGA-AC-A5XS-01A-11D-A29N-09 TCGA-AC-A5XS-11A-13D-A29N-09 g.chr19:56190004C>T c.11C>T c.(10-12)tCg>tTg p.S4L BRCA 19 56190110 56190110 + Silent SNP C C A TCGA-AR-A2LE-01A-11D-A17W-09 TCGA-AR-A2LE-10A-01D-A17W-09 g.chr19:56190110C>A c.117C>A c.(115-117)ctC>ctA p.L39L BRCA 19 56200357 56200357 + Silent SNP C C T TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 g.chr19:56200357C>T c.600C>T c.(598-600)gaC>gaT p.D200D BRCA 19 56203361 56203361 + Missense_Mutation SNP G G A TCGA-BH-A0B8-01A-21W-A071-09 TCGA-BH-A0B8-11A-41W-A10F-09 g.chr19:56203361G>A c.1004G>A c.(1003-1005)gGt>gAt p.G335D BRCA 19 56204118 56204118 + Missense_Mutation SNP C C G TCGA-AQ-A0Y5-01A-11D-A14K-09 TCGA-AQ-A0Y5-10A-01D-A17G-09 g.chr19:56204118C>G c.1133C>G c.(1132-1134)cCc>cGc p.P378R BRCA 19 56206663 56206663 + Silent SNP C C T TCGA-E2-A14Y-01A-21D-A12B-09 TCGA-E2-A14Y-11A-33D-A12B-09 g.chr19:56206663C>T c.1672C>T c.(1672-1674)Ctg>Ttg p.L558L CESC 19 56196968 56196968 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 g.chr19:56196968G>A c.435G>A c.(433-435)gcG>gcA p.A145A CESC 19 56203149 56203149 + Silent SNP C C T TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 g.chr19:56203149C>T c.792C>T c.(790-792)ttC>ttT p.F264F CESC 19 56206237 56206237 + Silent SNP G G A TCGA-EA-A410-01A-11D-A243-09 TCGA-EA-A410-10A-01D-A243-09 g.chr19:56206237G>A c.1410G>A c.(1408-1410)acG>acA p.T470T CHOL 19 56200706 56200706 + Missense_Mutation SNP C C T TCGA-ZH-A8Y6-01A-11D-A417-09 TCGA-ZH-A8Y6-10A-01D-A41A-09 g.chr19:56200706C>T c.647C>T c.(646-648)gCc>gTc p.A216V COAD 19 56189961 56189961 + 5'UTR SNP G G A TCGA-D5-6535-01A-11D-1719-10 TCGA-D5-6535-10A-01D-1719-10 g.chr19:56189961G>A COAD 19 56190108 56190108 + Missense_Mutation SNP C C A TCGA-CM-4746-01A-01D-1408-10 TCGA-CM-4746-10A-01D-1408-10 g.chr19:56190108C>A c.115C>A c.(115-117)Ctc>Atc p.L39I COAD 19 56196873 56196873 + Missense_Mutation SNP C C T TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr19:56196873C>T c.340C>T c.(340-342)Cgc>Tgc p.R114C COAD 19 56196967 56196967 + Missense_Mutation SNP C C T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr19:56196967C>T c.434C>T c.(433-435)gCg>gTg p.A145V COAD 19 56200303 56200305 + In_Frame_Del DEL GGA GGA - TCGA-CK-5913-01A-11D-1650-10 TCGA-CK-5913-10A-01D-1650-10 g.chr19:56200303_56200305delGGA c.546_548delGGA c.(544-549)ggggag>ggg p.E185del COAD 19 56201265 56201265 + Silent SNP G G A TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr19:56201265G>A c.711G>A c.(709-711)cgG>cgA p.R237R COAD 19 56203184 56203184 + Frame_Shift_Del DEL G G - TCGA-AA-3821-01A-01W-0995-10 TCGA-AA-3821-10A-01W-0995-10 g.chr19:56203184delG c.827delG c.(826-828)tggfs p.W276fs COAD 19 56203190 56203190 + Missense_Mutation SNP G G C TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr19:56203190G>C c.833G>C c.(832-834)gGc>gCc p.G278A COAD 19 56204053 56204053 + Splice_Site SNP T T C TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr19:56204053T>C c.1068T>C c.(1066-1068)ggT>ggC p.G356G COAD 19 56204056 56204056 + Silent SNP G G A TCGA-AA-3511-01A-21D-1835-10 TCGA-AA-3511-11A-01D-1835-10 g.chr19:56204056G>A c.1071G>A c.(1069-1071)ggG>ggA p.G357G COAD 19 56204125 56204125 + Silent SNP A A G TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr19:56204125A>G c.1140A>G c.(1138-1140)ggA>ggG p.G380G COAD 19 56204364 56204364 + Silent SNP C C A TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr19:56204364C>A c.1225C>A c.(1225-1227)Cga>Aga p.R409R COAD 19 56206240 56206240 + Silent SNP G G A TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr19:56206240G>A c.1413G>A c.(1411-1413)ccG>ccA p.P471P COAD 19 56206537 56206537 + Missense_Mutation SNP G G A TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr19:56206537G>A c.1546G>A c.(1546-1548)Gtc>Atc p.V516I COAD 19 56206633 56206633 + Missense_Mutation SNP T T C TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr19:56206633T>C c.1642T>C c.(1642-1644)Tac>Cac p.Y548H COADREAD 19 56189961 56189961 + 5'UTR SNP G G A TCGA-D5-6535-01A-11D-1719-10 TCGA-D5-6535-10A-01D-1719-10 g.chr19:56189961G>A COADREAD 19 56190108 56190108 + Missense_Mutation SNP C C A TCGA-CM-4746-01A-01D-1408-10 TCGA-CM-4746-10A-01D-1408-10 g.chr19:56190108C>A c.115C>A c.(115-117)Ctc>Atc p.L39I COADREAD 19 56196873 56196873 + Missense_Mutation SNP C C T TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr19:56196873C>T c.340C>T c.(340-342)Cgc>Tgc p.R114C COADREAD 19 56196967 56196967 + Missense_Mutation SNP C C T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr19:56196967C>T c.434C>T c.(433-435)gCg>gTg p.A145V COADREAD 19 56200303 56200305 + In_Frame_Del DEL GGA GGA - TCGA-CK-5913-01A-11D-1650-10 TCGA-CK-5913-10A-01D-1650-10 g.chr19:56200303_56200305delGGA c.546_548delGGA c.(544-549)ggggag>ggg p.E185del COADREAD 19 56201265 56201265 + Silent SNP G G A TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr19:56201265G>A c.711G>A c.(709-711)cgG>cgA p.R237R COADREAD 19 56203184 56203184 + Frame_Shift_Del DEL G G - TCGA-AA-3821-01A-01W-0995-10 TCGA-AA-3821-10A-01W-0995-10 g.chr19:56203184delG c.827delG c.(826-828)tggfs p.W276fs COADREAD 19 56203190 56203190 + Missense_Mutation SNP G G C TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr19:56203190G>C c.833G>C c.(832-834)gGc>gCc p.G278A COADREAD 19 56204053 56204053 + Splice_Site SNP T T C TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr19:56204053T>C c.1068T>C c.(1066-1068)ggT>ggC p.G356G COADREAD 19 56204056 56204056 + Silent SNP G G A TCGA-AA-3511-01A-21D-1835-10 TCGA-AA-3511-11A-01D-1835-10 g.chr19:56204056G>A c.1071G>A c.(1069-1071)ggG>ggA p.G357G COADREAD 19 56204103 56204103 + Missense_Mutation SNP C C T TCGA-AG-A026-01A-32W-A096-10 TCGA-AG-A026-10A-01W-A096-10 g.chr19:56204103C>T c.1118C>T c.(1117-1119)cCg>cTg p.P373L COADREAD 19 56204125 56204125 + Silent SNP A A G TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr19:56204125A>G c.1140A>G c.(1138-1140)ggA>ggG p.G380G COADREAD 19 56204364 56204364 + Silent SNP C C A TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr19:56204364C>A c.1225C>A c.(1225-1227)Cga>Aga p.R409R COADREAD 19 56206240 56206240 + Silent SNP G G A TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr19:56206240G>A c.1413G>A c.(1411-1413)ccG>ccA p.P471P COADREAD 19 56206537 56206537 + Missense_Mutation SNP G G A TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr19:56206537G>A c.1546G>A c.(1546-1548)Gtc>Atc p.V516I COADREAD 19 56206633 56206633 + Missense_Mutation SNP T T C TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr19:56206633T>C c.1642T>C c.(1642-1644)Tac>Cac p.Y548H ESCA 19 56200328 56200328 + Missense_Mutation SNP G G A TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 g.chr19:56200328G>A c.571G>A c.(571-573)Gcc>Acc p.A191T ESCA 19 56200681 56200681 + Missense_Mutation SNP G G A TCGA-IC-A6RF-01A-13D-A33E-09 TCGA-IC-A6RF-10A-21D-A33H-09 g.chr19:56200681G>A c.622G>A c.(622-624)Gag>Aag p.E208K ESCA 19 56203122 56203122 + Silent SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr19:56203122G>A c.765G>A c.(763-765)tcG>tcA p.S255S ESCA 19 56203184 56203184 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr19:56203184delG c.827delG c.(826-828)tggfs p.W276fs ESCA 19 56206211 56206211 + Missense_Mutation SNP A A G TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 g.chr19:56206211A>G c.1384A>G c.(1384-1386)Act>Gct p.T462A GBMLGG 19 56190168 56190168 + Missense_Mutation SNP A A G TCGA-E1-A7YJ-01A-11D-A34A-08 TCGA-E1-A7YJ-10A-01D-A34A-08 g.chr19:56190168A>G c.175A>G c.(175-177)Atg>Gtg p.M59V HNSC 19 56190148 56190148 + Missense_Mutation SNP C C T TCGA-IQ-A61G-01A-11D-A30E-08 TCGA-IQ-A61G-10A-01D-A30H-08 g.chr19:56190148C>T c.155C>T c.(154-156)gCc>gTc p.A52V HNSC 19 56200300 56200300 + Missense_Mutation SNP C C G TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 g.chr19:56200300C>G c.543C>G c.(541-543)agC>agG p.S181R HNSC 19 56203254 56203254 + Silent SNP C C T TCGA-CQ-5324-01A-01D-1683-08 TCGA-CQ-5324-10A-01D-1683-08 g.chr19:56203254C>T c.897C>T c.(895-897)ccC>ccT p.P299P HNSC 19 56203256 56203256 + Missense_Mutation SNP C C T TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 g.chr19:56203256C>T c.899C>T c.(898-900)cCt>cTt p.P300L HNSC 19 56204351 56204351 + Missense_Mutation SNP C C A TCGA-CV-7089-01A-11D-2012-08 TCGA-CV-7089-10A-01D-2013-08 g.chr19:56204351C>A c.1212C>A c.(1210-1212)ttC>ttA p.F404L HNSC 19 56204355 56204355 + Missense_Mutation SNP G G C TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 g.chr19:56204355G>C c.1216G>C c.(1216-1218)Gac>Cac p.D406H HNSC 19 56206141 56206141 + Silent SNP G G A TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 g.chr19:56206141G>A c.1314G>A c.(1312-1314)gcG>gcA p.A438A HNSC 19 56206609 56206609 + Missense_Mutation SNP C C G TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 g.chr19:56206609C>G c.1618C>G c.(1618-1620)Ccc>Gcc p.P540A KIPAN 19 56204133 56204133 + Missense_Mutation SNP C C G TCGA-CJ-6028-01A-11D-1669-08 TCGA-CJ-6028-11A-01D-1669-08 g.chr19:56204133C>G c.1148C>G c.(1147-1149)cCt>cGt p.P383R KIRC 19 56204133 56204133 + Missense_Mutation SNP C C G TCGA-CJ-6028-01A-11D-1669-08 TCGA-CJ-6028-11A-01D-1669-08 g.chr19:56204133C>G c.1148C>G c.(1147-1149)cCt>cGt p.P383R LGG 19 56190168 56190168 + Missense_Mutation SNP A A G TCGA-E1-A7YJ-01A-11D-A34A-08 TCGA-E1-A7YJ-10A-01D-A34A-08 g.chr19:56190168A>G c.175A>G c.(175-177)Atg>Gtg p.M59V LIHC 19 56196948 56196948 + Missense_Mutation SNP C C T TCGA-BC-A8YO-01A-11D-A36X-10 TCGA-BC-A8YO-10A-01D-A370-10 g.chr19:56196948C>T c.415C>T c.(415-417)Cgg>Tgg p.R139W LIHC 19 56206189 56206189 + Frame_Shift_Del DEL C C - TCGA-DD-A1EG-01A-11D-A20W-10 TCGA-DD-A1EG-10A-01D-A20W-10 g.chr19:56206189delC c.1362delC c.(1360-1362)agcfs p.S454fs LIHC 19 56206198 56206199 + Frame_Shift_Del DEL TG TG - TCGA-CC-5260-01A-01D-A12Z-10 TCGA-CC-5260-10B-01D-A12Z-10 g.chr19:56206198_56206199delTG c.1371_1372delTG c.(1369-1374)cctgcafs p.A459fs LUAD 19 56189960 56189960 + 5'UTR SNP G G A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 g.chr19:56189960G>A LUAD 19 56190126 56190126 + Missense_Mutation SNP G G T TCGA-93-8067-01A-11D-2284-08 TCGA-93-8067-10A-01D-2284-08 g.chr19:56190126G>T c.133G>T c.(133-135)Gac>Tac p.D45Y LUAD 19 56196893 56196893 + Silent SNP C C T TCGA-35-5375-01A-01D-1625-08 TCGA-35-5375-10A-01D-1625-08 g.chr19:56196893C>T c.360C>T c.(358-360)ggC>ggT p.G120G LUAD 19 56203177 56203177 + Missense_Mutation SNP G G T TCGA-95-7039-01A-11D-1945-08 TCGA-95-7039-10A-01D-1946-08 g.chr19:56203177G>T c.820G>T c.(820-822)Gac>Tac p.D274Y LUAD 19 56203183 56203184 + Frame_Shift_Ins INS - - G TCGA-17-Z041-01A-01W-0746-08 TCGA-17-Z041-11A-01W-0746-08 g.chr19:56203183_56203184insG c.826_827insG c.(826-828)tggfs p.W276fs LUAD 19 56203203 56203203 + Missense_Mutation SNP G G T TCGA-86-8672-01A-21D-2393-08 TCGA-86-8672-10A-01D-2393-08 g.chr19:56203203G>T c.846G>T c.(844-846)atG>atT p.M282I LUAD 19 56203235 56203235 + Missense_Mutation SNP C C G TCGA-44-2657-01A-01D-1105-08 TCGA-44-2657-10A-01D-1105-08 g.chr19:56203235C>G c.878C>G c.(877-879)tCg>tGg p.S293W LUAD 19 56204343 56204343 + Missense_Mutation SNP G G T TCGA-MP-A4TK-01A-11D-A24P-08 TCGA-MP-A4TK-10A-01D-A24P-08 g.chr19:56204343G>T c.1204G>T c.(1204-1206)Gac>Tac p.D402Y LUAD 19 56204360 56204360 + Missense_Mutation SNP T T G TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 g.chr19:56204360T>G c.1221T>G c.(1219-1221)ttT>ttG p.F407L LUAD 19 56206162 56206162 + Missense_Mutation SNP G G T TCGA-49-6743-01A-11D-1855-08 TCGA-49-6743-11A-01D-1855-08 g.chr19:56206162G>T c.1335G>T c.(1333-1335)agG>agT p.R445S LUAD 19 56206189 56206189 + Frame_Shift_Del DEL C C - TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 g.chr19:56206189delC c.1362delC c.(1360-1362)agcfs p.S454fs LUAD 19 56206234 56206234 + Missense_Mutation SNP G G T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 g.chr19:56206234G>T c.1407G>T c.(1405-1407)aaG>aaT p.K469N LUAD 19 56206652 56206652 + Missense_Mutation SNP G G T TCGA-55-A493-01A-11D-A24D-08 TCGA-55-A493-10A-01D-A24F-08 g.chr19:56206652G>T c.1661G>T c.(1660-1662)gGg>gTg p.G554V LUSC 19 56203162 56203162 + Missense_Mutation SNP C C A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 g.chr19:56203162C>A c.805C>A c.(805-807)Cct>Act p.P269T LUSC 19 56206164 56206164 + Missense_Mutation SNP G G T TCGA-22-4613-01A-01D-1441-08 TCGA-22-4613-11A-01D-1441-08 g.chr19:56206164G>T c.1337G>T c.(1336-1338)gGa>gTa p.G446V LUSC 19 56206529 56206529 + Missense_Mutation SNP G G T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 g.chr19:56206529G>T c.1538G>T c.(1537-1539)gGc>gTc p.G513V PAAD 19 56203230 56203230 + Silent SNP C C A TCGA-2L-AAQA-01A-21D-A38G-08 TCGA-2L-AAQA-11A-11D-A38J-08 g.chr19:56203230C>A c.873C>A c.(871-873)ccC>ccA p.P291P PAAD 19 56204384 56204384 + Silent SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr19:56204384G>A c.1245G>A c.(1243-1245)ccG>ccA p.P415P PAAD 19 56206203 56206203 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr19:56206203C>T c.1376C>T c.(1375-1377)gCc>gTc p.A459V PRAD 19 56206217 56206217 + Missense_Mutation SNP A A G TCGA-HC-A8CY-01A-11D-A364-08 TCGA-HC-A8CY-10A-01D-A362-08 g.chr19:56206217A>G c.1390A>G c.(1390-1392)Acg>Gcg p.T464A PRAD 19 56206666 56206666 + Frame_Shift_Del DEL C C - TCGA-KK-A59V-01A-11D-A29Q-08 TCGA-KK-A59V-11A-11D-A29Q-08 g.chr19:56206666delC c.1675delC c.(1675-1677)cccfs p.P560fs READ 19 56204103 56204103 + Missense_Mutation SNP C C T TCGA-AG-A026-01A-32W-A096-10 TCGA-AG-A026-10A-01W-A096-10 g.chr19:56204103C>T c.1118C>T c.(1117-1119)cCg>cTg p.P373L SKCM 19 56203242 56203242 + Silent SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 g.chr19:56203242C>T c.885C>T c.(883-885)ccC>ccT p.P295P SKCM 19 56203253 56203253 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 g.chr19:56203253C>T c.896C>T c.(895-897)cCc>cTc p.P299L SKCM 19 56203261 56203261 + Missense_Mutation SNP C C T TCGA-ER-A2NC-06A-11D-A197-08 TCGA-ER-A2NC-10A-01D-A199-08 g.chr19:56203261C>T c.904C>T c.(904-906)Cct>Tct p.P302S SKCM 19 56204341 56204341 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr19:56204341C>T c.1202C>T c.(1201-1203)cCc>cTc p.P401L SKCM 19 56204342 56204342 + Silent SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr19:56204342C>T c.1203C>T c.(1201-1203)ccC>ccT p.P401P SKCM 19 56206167 56206167 + Missense_Mutation SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 g.chr19:56206167C>T c.1340C>T c.(1339-1341)tCt>tTt p.S447F SKCM 19 56206590 56206590 + Silent SNP C C A TCGA-EE-A2A2-06A-11D-A196-08 TCGA-EE-A2A2-10A-01D-A198-08 g.chr19:56206590C>A c.1599C>A c.(1597-1599)ctC>ctA p.L533L SKCM 19 56206591 56206591 + Missense_Mutation SNP C C T TCGA-EE-A2A2-06A-11D-A196-08 TCGA-EE-A2A2-10A-01D-A198-08 g.chr19:56206591C>T c.1600C>T c.(1600-1602)Cgt>Tgt p.R534C SKCM 19 56206615 56206615 + Missense_Mutation SNP C C T TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr19:56206615C>T c.1624C>T c.(1624-1626)Cct>Tct p.P542S

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 19 56220218 56220218 single base substitution G A intron_variant BLCA-US 19 56200276 56200276 single base substitution G A exon_variant BLCA-US 19 56200276 56200276 single base substitution G A synonymous_variant A173A 519G>A BLCA-US 19 56200276 56200276 single base substitution G A synonymous_variant A284A 852G>A BLCA-US 19 56200276 56200276 single base substitution G A upstream_gene_variant BLCA-US 19 56223188 56223188 single base substitution C T downstream_gene_variant BRCA-EU 19 56182611 56182611 single base substitution A G upstream_gene_variant BRCA-EU 19 56182625 56182625 single base substitution G C upstream_gene_variant BRCA-EU 19 56183451 56183451 single base substitution C T upstream_gene_variant BRCA-EU 19 56183607 56183607 single base substitution C G upstream_gene_variant BRCA-EU 19 56184090 56184090 single base substitution C G upstream_gene_variant BRCA-EU 19 56184175 56184175 deletion of <=200bp T - upstream_gene_variant BRCA-EU 19 56184289 56184289 single base substitution G A upstream_gene_variant BRCA-EU 19 56184609 56184609 single base substitution C T upstream_gene_variant BRCA-EU 19 56185000 56185000 single base substitution C A upstream_gene_variant BRCA-EU 19 56185068 56185068 single base substitution C G upstream_gene_variant BRCA-EU 19 56186236 56186236 single base substitution C T upstream_gene_variant BRCA-EU 19 56187440 56187440 single base substitution A C intron_variant BRCA-EU 19 56187440 56187440 single base substitution A C upstream_gene_variant BRCA-EU 19 56190282 56190282 single base substitution C T intron_variant BRCA-EU 19 56190282 56190282 single base substitution C T upstream_gene_variant BRCA-EU 19 56191753 56191753 single base substitution C G intron_variant BRCA-EU 19 56191753 56191753 single base substitution C G upstream_gene_variant BRCA-EU 19 56191778 56191778 single base substitution A G intron_variant BRCA-EU 19 56191778 56191778 single base substitution A G upstream_gene_variant BRCA-EU 19 56191783 56191783 single base substitution C T intron_variant BRCA-EU 19 56191783 56191783 single base substitution C T upstream_gene_variant BRCA-EU 19 56192587 56192587 single base substitution G T intron_variant BRCA-EU 19 56194367 56194367 single base substitution C G intron_variant BRCA-EU 19 56195326 56195326 single base substitution G A intron_variant BRCA-EU 19 56195555 56195555 single base substitution G T intron_variant BRCA-EU 19 56196319 56196319 single base substitution G A intron_variant BRCA-EU 19 56196868 56196868 single base substitution T C exon_variant BRCA-EU 19 56196868 56196868 single base substitution T C missense_variant V112A 335T>C BRCA-EU 19 56196868 56196868 single base substitution T C missense_variant V223A 668T>C BRCA-EU 19 56199142 56199142 single base substitution C T intron_variant BRCA-EU 19 56199142 56199142 single base substitution C T upstream_gene_variant BRCA-EU 19 56200242 56200242 single base substitution C G exon_variant BRCA-EU 19 56200242 56200242 single base substitution C G stop_gained S162* 485C>G BRCA-EU 19 56200242 56200242 single base substitution C G stop_gained S273* 818C>G BRCA-EU 19 56200242 56200242 single base substitution C G upstream_gene_variant BRCA-EU 19 56200656 56200656 single base substitution C T intron_variant BRCA-EU 19 56200656 56200656 single base substitution C T splice_region_variant BRCA-EU 19 56200656 56200656 single base substitution C T upstream_gene_variant BRCA-EU 19 56203185 56203185 single base substitution G T downstream_gene_variant BRCA-EU 19 56203185 56203185 single base substitution G T missense_variant W251C 753G>T BRCA-EU 19 56203185 56203185 single base substitution G T missense_variant W276C 828G>T BRCA-EU 19 56203185 56203185 single base substitution G T missense_variant W362C 1086G>T BRCA-EU 19 56203185 56203185 single base substitution G T upstream_gene_variant BRCA-EU 19 56203464 56203464 single base substitution G A downstream_gene_variant BRCA-EU 19 56203464 56203464 single base substitution G A intron_variant BRCA-EU 19 56203464 56203464 single base substitution G A upstream_gene_variant BRCA-EU 19 56204837 56204837 single base substitution G A downstream_gene_variant BRCA-EU 19 56204837 56204837 single base substitution G A intron_variant BRCA-EU 19 56205853 56205853 single base substitution G A downstream_gene_variant BRCA-EU 19 56205853 56205853 single base substitution G A intron_variant BRCA-EU 19 56206047 56206047 single base substitution C G downstream_gene_variant BRCA-EU 19 56206047 56206047 single base substitution C G intron_variant BRCA-EU 19 56207390 56207390 single base substitution G A downstream_gene_variant BRCA-EU 19 56207390 56207390 single base substitution G A intron_variant BRCA-EU 19 56212198 56212198 single base substitution G C intron_variant BRCA-EU 19 56212477 56212477 single base substitution C T intron_variant BRCA-EU 19 56213771 56213771 single base substitution C T intron_variant BRCA-EU 19 56214660 56214660 single base substitution T G intron_variant BRCA-EU 19 56216515 56216515 single base substitution C T intron_variant BRCA-EU 19 56216848 56216848 single base substitution C G intron_variant BRCA-EU 19 56217652 56217652 single base substitution T C intron_variant BRCA-EU 19 56217910 56217910 single base substitution C G intron_variant BRCA-EU 19 56219059 56219059 single base substitution C G intron_variant BRCA-EU 19 56219527 56219527 single base substitution C T intron_variant BRCA-EU 19 56220374 56220374 single base substitution C A intron_variant BRCA-EU 19 56220627 56220627 single base substitution C G intron_variant BRCA-EU 19 56224048 56224048 single base substitution T C downstream_gene_variant BRCA-FR 19 56184609 56184609 single base substitution C T upstream_gene_variant BRCA-FR 19 56185000 56185000 single base substitution C A upstream_gene_variant BRCA-FR 19 56191022 56191022 single base substitution C T intron_variant BRCA-FR 19 56191022 56191022 single base substitution C T upstream_gene_variant BRCA-FR 19 56191753 56191753 single base substitution C G intron_variant BRCA-FR 19 56191753 56191753 single base substitution C G upstream_gene_variant BRCA-FR 19 56195326 56195326 single base substitution G A intron_variant BRCA-FR 19 56200242 56200242 single base substitution C G exon_variant BRCA-FR 19 56200242 56200242 single base substitution C G stop_gained S162* 485C>G BRCA-FR 19 56200242 56200242 single base substitution C G stop_gained S273* 818C>G BRCA-FR 19 56200242 56200242 single base substitution C G upstream_gene_variant BRCA-FR 19 56204076 56204076 single base substitution C T downstream_gene_variant BRCA-FR 19 56204076 56204076 single base substitution C T exon_variant BRCA-FR 19 56204076 56204076 single base substitution C T missense_variant S339L 1016C>T BRCA-FR 19 56204076 56204076 single base substitution C T missense_variant S364L 1091C>T BRCA-FR 19 56204076 56204076 single base substitution C T missense_variant S450L 1349C>T BRCA-FR 19 56204076 56204076 single base substitution C T upstream_gene_variant BRCA-FR 19 56207242 56207242 single base substitution C T downstream_gene_variant BRCA-FR 19 56207242 56207242 single base substitution C T intron_variant BRCA-FR 19 56208958 56208958 single base substitution C A downstream_gene_variant BRCA-FR 19 56208958 56208958 single base substitution C A intron_variant BRCA-FR 19 56211487 56211487 single base substitution C T downstream_gene_variant BRCA-FR 19 56211487 56211487 single base substitution C T intron_variant BRCA-FR 19 56212362 56212362 single base substitution G T intron_variant BRCA-FR 19 56216515 56216515 single base substitution C T intron_variant BRCA-FR 19 56217910 56217910 single base substitution C G intron_variant BRCA-FR 19 56219059 56219059 single base substitution C G intron_variant BRCA-FR 19 56219527 56219527 single base substitution C T intron_variant BRCA-UK 19 56192587 56192587 single base substitution G T intron_variant BRCA-UK 19 56199142 56199142 single base substitution C T intron_variant BRCA-UK 19 56199142 56199142 single base substitution C T upstream_gene_variant BRCA-US 19 56189070 56189070 single base substitution C G intron_variant BRCA-US 19 56189070 56189070 single base substitution C G missense_variant L68V 202C>G BRCA-US 19 56189070 56189070 single base substitution C G upstream_gene_variant BRCA-US 19 56190004 56190004 single base substitution C T missense_variant S115L 344C>T BRCA-US 19 56190004 56190004 single base substitution C T missense_variant S4L 11C>T BRCA-US 19 56190004 56190004 single base substitution C T upstream_gene_variant BRCA-US 19 56190110 56190110 single base substitution C A synonymous_variant L150L 450C>A BRCA-US 19 56190110 56190110 single base substitution C A synonymous_variant L39L 117C>A BRCA-US 19 56190110 56190110 single base substitution C A upstream_gene_variant BRCA-US 19 56200357 56200357 single base substitution C T exon_variant BRCA-US 19 56200357 56200357 single base substitution C T synonymous_variant D200D 600C>T BRCA-US 19 56200357 56200357 single base substitution C T synonymous_variant D311D 933C>T BRCA-US 19 56200357 56200357 single base substitution C T upstream_gene_variant BRCA-US 19 56203361 56203361 single base substitution G A downstream_gene_variant BRCA-US 19 56203361 56203361 single base substitution G A missense_variant G310D 929G>A BRCA-US 19 56203361 56203361 single base substitution G A missense_variant G335D 1004G>A BRCA-US 19 56203361 56203361 single base substitution G A missense_variant G421D 1262G>A BRCA-US 19 56203361 56203361 single base substitution G A upstream_gene_variant BRCA-US 19 56204118 56204118 single base substitution C G downstream_gene_variant BRCA-US 19 56204118 56204118 single base substitution C G exon_variant BRCA-US 19 56204118 56204118 single base substitution C G missense_variant P353R 1058C>G BRCA-US 19 56204118 56204118 single base substitution C G missense_variant P378R 1133C>G BRCA-US 19 56204118 56204118 single base substitution C G missense_variant P464R 1391C>G BRCA-US 19 56204118 56204118 single base substitution C G upstream_gene_variant BRCA-US 19 56206663 56206663 single base substitution C T downstream_gene_variant BRCA-US 19 56206663 56206663 single base substitution C T intron_variant BRCA-US 19 56206663 56206663 single base substitution C T synonymous_variant L532L 1594C>T BRCA-US 19 56206663 56206663 single base substitution C T synonymous_variant L558L 1672C>T BRCA-US 19 56206663 56206663 single base substitution C T synonymous_variant L644L 1930C>T BRCA-US 19 56223333 56223333 single base substitution C T downstream_gene_variant BTCA-JP 19 56188909 56188909 single base substitution C T intron_variant BTCA-JP 19 56188909 56188909 single base substitution C T splice_region_variant BTCA-JP 19 56188909 56188909 single base substitution C T upstream_gene_variant BTCA-JP 19 56204119 56204119 single base substitution C A downstream_gene_variant BTCA-JP 19 56204119 56204119 single base substitution C A exon_variant BTCA-JP 19 56204119 56204119 single base substitution C A synonymous_variant P353P 1059C>A BTCA-JP 19 56204119 56204119 single base substitution C A synonymous_variant P378P 1134C>A BTCA-JP 19 56204119 56204119 single base substitution C A synonymous_variant P464P 1392C>A BTCA-JP 19 56204119 56204119 single base substitution C A upstream_gene_variant BTCA-JP 19 56206220 56206220 deletion of <=200bp C - downstream_gene_variant BTCA-JP 19 56206220 56206220 deletion of <=200bp C - frameshift_variant P439 BTCA-JP 19 56206220 56206220 deletion of <=200bp C - frameshift_variant P465 BTCA-JP 19 56206220 56206220 deletion of <=200bp C - frameshift_variant P551 BTCA-JP 19 56206220 56206220 deletion of <=200bp C - intron_variant BTCA-JP 19 56220410 56220410 single base substitution C A intron_variant BTCA-JP 19 56223322 56223322 single base substitution G A downstream_gene_variant CESC-US 19 56196968 56196968 single base substitution G A exon_variant CESC-US 19 56196968 56196968 single base substitution G A synonymous_variant A145A 435G>A CESC-US 19 56196968 56196968 single base substitution G A synonymous_variant A256A 768G>A CESC-US 19 56203149 56203149 single base substitution C T downstream_gene_variant CESC-US 19 56203149 56203149 single base substitution C T synonymous_variant F239F 717C>T CESC-US 19 56203149 56203149 single base substitution C T synonymous_variant F264F 792C>T CESC-US 19 56203149 56203149 single base substitution C T synonymous_variant F350F 1050C>T CESC-US 19 56203149 56203149 single base substitution C T upstream_gene_variant CESC-US 19 56206237 56206237 single base substitution G A downstream_gene_variant CESC-US 19 56206237 56206237 single base substitution G A intron_variant CESC-US 19 56206237 56206237 single base substitution G A synonymous_variant T444T 1332G>A CESC-US 19 56206237 56206237 single base substitution G A synonymous_variant T470T 1410G>A CESC-US 19 56206237 56206237 single base substitution G A synonymous_variant T556T 1668G>A CESC-US 19 56220264 56220264 single base substitution C G intron_variant CESC-US 19 56220299 56220299 single base substitution C T intron_variant CESC-US 19 56220385 56220385 single base substitution C A intron_variant CESC-US 19 56223837 56223837 single base substitution C G downstream_gene_variant CESC-US 19 56223837 56223837 single base substitution C T downstream_gene_variant CLLE-ES 19 56209688 56209688 single base substitution A G downstream_gene_variant CLLE-ES 19 56209688 56209688 single base substitution A G intron_variant CLLE-ES 19 56214699 56214699 single base substitution T A intron_variant CLLE-ES 19 56220299 56220299 single base substitution C G intron_variant CLLE-ES 19 56222479 56222479 single base substitution A C downstream_gene_variant COAD-US 19 56189059 56189059 single base substitution C T intron_variant COAD-US 19 56189059 56189059 single base substitution C T missense_variant T64M 191C>T COAD-US 19 56189059 56189059 single base substitution C T upstream_gene_variant COAD-US 19 56189961 56189961 single base substitution G A 5_prime_UTR_variant COAD-US 19 56189961 56189961 single base substitution G A missense_variant A101T 301G>A COAD-US 19 56189961 56189961 single base substitution G A upstream_gene_variant COAD-US 19 56190108 56190108 single base substitution C A missense_variant L150I 448C>A COAD-US 19 56190108 56190108 single base substitution C A missense_variant L39I 115C>A COAD-US 19 56190108 56190108 single base substitution C A upstream_gene_variant COAD-US 19 56196873 56196873 single base substitution C T exon_variant COAD-US 19 56196873 56196873 single base substitution C T missense_variant R114C 340C>T COAD-US 19 56196873 56196873 single base substitution C T missense_variant R225C 673C>T COAD-US 19 56196967 56196967 single base substitution C T exon_variant COAD-US 19 56196967 56196967 single base substitution C T missense_variant A145V 434C>T COAD-US 19 56196967 56196967 single base substitution C T missense_variant A256V 767C>T COAD-US 19 56200303 56200305 deletion of <=200bp GGA - exon_variant COAD-US 19 56200303 56200305 deletion of <=200bp GGA - inframe_deletion GE182G COAD-US 19 56200303 56200305 deletion of <=200bp GGA - inframe_deletion GE293G COAD-US 19 56200303 56200305 deletion of <=200bp GGA - upstream_gene_variant COAD-US 19 56201265 56201265 single base substitution G A exon_variant COAD-US 19 56201265 56201265 single base substitution G A synonymous_variant R212R 636G>A COAD-US 19 56201265 56201265 single base substitution G A synonymous_variant R237R 711G>A COAD-US 19 56201265 56201265 single base substitution G A synonymous_variant R323R 969G>A COAD-US 19 56201265 56201265 single base substitution G A upstream_gene_variant COAD-US 19 56203190 56203190 single base substitution G C downstream_gene_variant COAD-US 19 56203190 56203190 single base substitution G C missense_variant G253A 758G>C COAD-US 19 56203190 56203190 single base substitution G C missense_variant G278A 833G>C COAD-US 19 56203190 56203190 single base substitution G C missense_variant G364A 1091G>C COAD-US 19 56203190 56203190 single base substitution G C upstream_gene_variant COAD-US 19 56204061 56204061 single base substitution C T downstream_gene_variant COAD-US 19 56204061 56204061 single base substitution C T exon_variant COAD-US 19 56204061 56204061 single base substitution C T missense_variant P334L 1001C>T COAD-US 19 56204061 56204061 single base substitution C T missense_variant P359L 1076C>T COAD-US 19 56204061 56204061 single base substitution C T missense_variant P445L 1334C>T COAD-US 19 56204061 56204061 single base substitution C T upstream_gene_variant COAD-US 19 56204364 56204364 single base substitution C A downstream_gene_variant COAD-US 19 56204364 56204364 single base substitution C A exon_variant COAD-US 19 56204364 56204364 single base substitution C A synonymous_variant R25R 73C>A COAD-US 19 56204364 56204364 single base substitution C A synonymous_variant R383R 1147C>A COAD-US 19 56204364 56204364 single base substitution C A synonymous_variant R409R 1225C>A COAD-US 19 56204364 56204364 single base substitution C A synonymous_variant R495R 1483C>A COAD-US 19 56206537 56206537 single base substitution G A downstream_gene_variant COAD-US 19 56206537 56206537 single base substitution G A intron_variant COAD-US 19 56206537 56206537 single base substitution G A missense_variant V490I 1468G>A COAD-US 19 56206537 56206537 single base substitution G A missense_variant V516I 1546G>A COAD-US 19 56206537 56206537 single base substitution G A missense_variant V602I 1804G>A COAD-US 19 56206633 56206633 single base substitution T C downstream_gene_variant COAD-US 19 56206633 56206633 single base substitution T C intron_variant COAD-US 19 56206633 56206633 single base substitution T C missense_variant Y522H 1564T>C COAD-US 19 56206633 56206633 single base substitution T C missense_variant Y548H 1642T>C COAD-US 19 56206633 56206633 single base substitution T C missense_variant Y634H 1900T>C COAD-US 19 56220286 56220286 single base substitution G A intron_variant COAD-US 19 56223303 56223303 single base substitution G A downstream_gene_variant COAD-US 19 56223313 56223313 single base substitution C T downstream_gene_variant COCA-CN 19 56185189 56185189 single base substitution G A upstream_gene_variant COCA-CN 19 56188772 56188772 single base substitution T C intron_variant COCA-CN 19 56188772 56188772 single base substitution T C upstream_gene_variant COCA-CN 19 56188934 56188934 single base substitution C T intron_variant COCA-CN 19 56188934 56188934 single base substitution C T synonymous_variant C22C 66C>T COCA-CN 19 56188934 56188934 single base substitution C T upstream_gene_variant COCA-CN 19 56222776 56222776 single base substitution G T downstream_gene_variant COCA-CN 19 56223788 56223788 single base substitution G A downstream_gene_variant EOPC-DE 19 56218959 56218959 single base substitution A T intron_variant ESAD-UK 19 56183130 56183130 single base substitution A G upstream_gene_variant ESAD-UK 19 56184010 56184010 insertion of <=200bp - T upstream_gene_variant ESAD-UK 19 56186419 56186419 single base substitution C T upstream_gene_variant ESAD-UK 19 56190299 56190299 single base substitution C A intron_variant ESAD-UK 19 56190299 56190299 single base substitution C A upstream_gene_variant ESAD-UK 19 56190345 56190346 deletion of <=200bp TC - intron_variant ESAD-UK 19 56190345 56190346 deletion of <=200bp TC - upstream_gene_variant ESAD-UK 19 56192377 56192377 single base substitution G A intron_variant ESAD-UK 19 56192709 56192709 single base substitution A G intron_variant ESAD-UK 19 56193949 56193949 single base substitution T C intron_variant ESAD-UK 19 56196713 56196713 single base substitution C T intron_variant ESAD-UK 19 56196942 56196942 single base substitution G A exon_variant ESAD-UK 19 56196942 56196942 single base substitution G A missense_variant E137K 409G>A ESAD-UK 19 56196942 56196942 single base substitution G A missense_variant E248K 742G>A ESAD-UK 19 56197176 56197176 deletion of <=200bp T - intron_variant ESAD-UK 19 56199931 56199931 single base substitution G A intron_variant ESAD-UK 19 56199931 56199931 single base substitution G A upstream_gene_variant ESAD-UK 19 56205733 56205733 single base substitution C G downstream_gene_variant ESAD-UK 19 56205733 56205733 single base substitution C G intron_variant ESAD-UK 19 56207954 56207954 single base substitution T C downstream_gene_variant ESAD-UK 19 56207954 56207954 single base substitution T C intron_variant ESAD-UK 19 56210117 56210117 deletion of <=200bp T - downstream_gene_variant ESAD-UK 19 56210117 56210117 deletion of <=200bp T - intron_variant ESAD-UK 19 56216365 56216365 single base substitution G A intron_variant ESAD-UK 19 56216456 56216456 single base substitution G C intron_variant ESAD-UK 19 56216930 56216930 single base substitution G A intron_variant ESAD-UK 19 56223091 56223091 single base substitution C T downstream_gene_variant ESAD-UK 19 56223093 56223093 single base substitution C T downstream_gene_variant ESAD-UK 19 56225554 56225554 single base substitution A G downstream_gene_variant ESAD-UK 19 56225828 56225828 single base substitution G T downstream_gene_variant ESCA-CN 19 56190004 56190004 single base substitution C T missense_variant S115L 344C>T ESCA-CN 19 56190004 56190004 single base substitution C T missense_variant S4L 11C>T ESCA-CN 19 56190004 56190004 single base substitution C T upstream_gene_variant KIRC-US 19 56185308 56185310 deletion of <=200bp GGA - upstream_gene_variant KIRC-US 19 56204133 56204133 single base substitution C G downstream_gene_variant KIRC-US 19 56204133 56204133 single base substitution C G exon_variant KIRC-US 19 56204133 56204133 single base substitution C G missense_variant P358R 1073C>G KIRC-US 19 56204133 56204133 single base substitution C G missense_variant P383R 1148C>G KIRC-US 19 56204133 56204133 single base substitution C G missense_variant P469R 1406C>G KIRC-US 19 56204133 56204133 single base substitution C G upstream_gene_variant LAML-KR 19 56185250 56185250 single base substitution G A upstream_gene_variant LAML-KR 19 56187881 56187881 single base substitution T C intron_variant LAML-KR 19 56187881 56187881 single base substitution T C upstream_gene_variant LICA-CN 19 56220362 56220362 single base substitution A T intron_variant LICA-FR 19 56185195 56185195 single base substitution C G upstream_gene_variant LICA-FR 19 56190868 56190868 single base substitution T G intron_variant LICA-FR 19 56190868 56190868 single base substitution T G upstream_gene_variant LICA-FR 19 56196973 56196973 single base substitution C T exon_variant LICA-FR 19 56196973 56196973 single base substitution C T missense_variant A147V 440C>T LICA-FR 19 56196973 56196973 single base substitution C T missense_variant A258V 773C>T LICA-FR 19 56204138 56204138 single base substitution A G downstream_gene_variant LICA-FR 19 56204138 56204138 single base substitution A G exon_variant LICA-FR 19 56204138 56204138 single base substitution A G missense_variant K1E 1A>G LICA-FR 19 56204138 56204138 single base substitution A G missense_variant K360E 1078A>G LICA-FR 19 56204138 56204138 single base substitution A G missense_variant K385E 1153A>G LICA-FR 19 56204138 56204138 single base substitution A G missense_variant K471E 1411A>G LICA-FR 19 56206156 56206156 single base substitution G A downstream_gene_variant LICA-FR 19 56206156 56206156 single base substitution G A intron_variant LICA-FR 19 56206156 56206156 single base substitution G A synonymous_variant G417G 1251G>A LICA-FR 19 56206156 56206156 single base substitution G A synonymous_variant G443G 1329G>A LICA-FR 19 56206156 56206156 single base substitution G A synonymous_variant G529G 1587G>A LICA-FR 19 56206553 56206553 single base substitution A T downstream_gene_variant LICA-FR 19 56206553 56206553 single base substitution A T intron_variant LICA-FR 19 56206553 56206553 single base substitution A T missense_variant Q495L 1484A>T LICA-FR 19 56206553 56206553 single base substitution A T missense_variant Q521L 1562A>T LICA-FR 19 56206553 56206553 single base substitution A T missense_variant Q607L 1820A>T LICA-FR 19 56217245 56217245 single base substitution A G intron_variant LIHC-US 19 56185355 56185355 single base substitution C T upstream_gene_variant LIHC-US 19 56223244 56223244 single base substitution C G downstream_gene_variant LIHC-US 19 56223263 56223263 single base substitution T A downstream_gene_variant LINC-JP 19 56186589 56186591 deletion of <=200bp CTT - upstream_gene_variant LINC-JP 19 56190069 56190069 single base substitution G T stop_gained E137* 409G>T LINC-JP 19 56190069 56190069 single base substitution G T stop_gained E26* 76G>T LINC-JP 19 56190069 56190069 single base substitution G T upstream_gene_variant LINC-JP 19 56190762 56190762 single base substitution C A intron_variant LINC-JP 19 56190762 56190762 single base substitution C A upstream_gene_variant LINC-JP 19 56195152 56195152 single base substitution T C intron_variant LINC-JP 19 56196972 56196972 single base substitution G T exon_variant LINC-JP 19 56196972 56196972 single base substitution G T missense_variant A147S 439G>T LINC-JP 19 56196972 56196972 single base substitution G T missense_variant A258S 772G>T LINC-JP 19 56204024 56204024 single base substitution C T downstream_gene_variant LINC-JP 19 56204024 56204024 single base substitution C T exon_variant LINC-JP 19 56204024 56204024 single base substitution C T intron_variant LINC-JP 19 56204024 56204024 single base substitution C T upstream_gene_variant LINC-JP 19 56218753 56218753 single base substitution A G intron_variant LINC-JP 19 56220442 56220442 single base substitution G T intron_variant LINC-JP 19 56222469 56222469 single base substitution C A downstream_gene_variant LIRI-JP 19 56186016 56186016 single base substitution C T upstream_gene_variant LIRI-JP 19 56187824 56187824 single base substitution A G intron_variant LIRI-JP 19 56187824 56187824 single base substitution A G upstream_gene_variant LIRI-JP 19 56188833 56188833 single base substitution G C intron_variant LIRI-JP 19 56188833 56188833 single base substitution G C upstream_gene_variant LIRI-JP 19 56189335 56189335 single base substitution G C intron_variant LIRI-JP 19 56189335 56189335 single base substitution G C upstream_gene_variant LIRI-JP 19 56189532 56189532 single base substitution C T intron_variant LIRI-JP 19 56189532 56189532 single base substitution C T upstream_gene_variant LIRI-JP 19 56190093 56190093 single base substitution G A missense_variant G145S 433G>A LIRI-JP 19 56190093 56190093 single base substitution G A missense_variant G34S 100G>A LIRI-JP 19 56190093 56190093 single base substitution G A upstream_gene_variant LIRI-JP 19 56195100 56195100 single base substitution G T intron_variant LIRI-JP 19 56196456 56196456 single base substitution C G intron_variant LIRI-JP 19 56200098 56200098 single base substitution T C intron_variant LIRI-JP 19 56200098 56200098 single base substitution T C upstream_gene_variant LIRI-JP 19 56200543 56200543 single base substitution T C intron_variant LIRI-JP 19 56200543 56200543 single base substitution T C upstream_gene_variant LIRI-JP 19 56205358 56205358 single base substitution G C downstream_gene_variant LIRI-JP 19 56205358 56205358 single base substitution G C intron_variant LIRI-JP 19 56207266 56207266 single base substitution T A downstream_gene_variant LIRI-JP 19 56207266 56207266 single base substitution T A intron_variant LIRI-JP 19 56208632 56208632 single base substitution G T downstream_gene_variant LIRI-JP 19 56208632 56208632 single base substitution G T intron_variant LIRI-JP 19 56209010 56209010 single base substitution C A downstream_gene_variant LIRI-JP 19 56209010 56209010 single base substitution C A intron_variant LIRI-JP 19 56209041 56209041 single base substitution A G downstream_gene_variant LIRI-JP 19 56209041 56209041 single base substitution A G intron_variant LIRI-JP 19 56211286 56211286 single base substitution A T downstream_gene_variant LIRI-JP 19 56211286 56211286 single base substitution A T intron_variant LIRI-JP 19 56212226 56212226 single base substitution C A intron_variant LIRI-JP 19 56212462 56212462 single base substitution T G intron_variant LIRI-JP 19 56215451 56215451 single base substitution C A intron_variant LIRI-JP 19 56215481 56215483 deletion of <=200bp CTC - intron_variant LIRI-JP 19 56215918 56215918 single base substitution A T intron_variant LIRI-JP 19 56216373 56216373 single base substitution C G intron_variant LIRI-JP 19 56216374 56216374 single base substitution A T intron_variant LIRI-JP 19 56217671 56217671 single base substitution A G intron_variant LIRI-JP 19 56218217 56218217 single base substitution A G intron_variant LIRI-JP 19 56218375 56218375 single base substitution T C intron_variant LIRI-JP 19 56218830 56218830 single base substitution T C intron_variant LIRI-JP 19 56219277 56219277 single base substitution G T intron_variant LIRI-JP 19 56219418 56219418 single base substitution C T intron_variant LIRI-JP 19 56219862 56219862 single base substitution A G intron_variant LIRI-JP 19 56222994 56222994 single base substitution C T downstream_gene_variant LIRI-JP 19 56226083 56226083 single base substitution A G downstream_gene_variant LUSC-KR 19 56184125 56184125 single base substitution C T upstream_gene_variant LUSC-KR 19 56185763 56185763 single base substitution T A upstream_gene_variant LUSC-KR 19 56189803 56189803 single base substitution G A intron_variant LUSC-KR 19 56189803 56189803 single base substitution G A upstream_gene_variant LUSC-KR 19 56195485 56195485 single base substitution A T intron_variant LUSC-KR 19 56199142 56199142 single base substitution C A intron_variant LUSC-KR 19 56199142 56199142 single base substitution C A upstream_gene_variant LUSC-KR 19 56209516 56209516 single base substitution G T downstream_gene_variant LUSC-KR 19 56209516 56209516 single base substitution G T intron_variant LUSC-KR 19 56211478 56211478 single base substitution A G downstream_gene_variant LUSC-KR 19 56211478 56211478 single base substitution A G intron_variant LUSC-KR 19 56213346 56213346 single base substitution G T intron_variant LUSC-KR 19 56214656 56214656 single base substitution G T intron_variant LUSC-KR 19 56215689 56215689 single base substitution G T intron_variant LUSC-KR 19 56219575 56219575 single base substitution T A intron_variant LUSC-KR 19 56225146 56225146 single base substitution C A downstream_gene_variant LUSC-US 19 56203162 56203162 single base substitution C A downstream_gene_variant LUSC-US 19 56203162 56203162 single base substitution C A missense_variant P244T 730C>A LUSC-US 19 56203162 56203162 single base substitution C A missense_variant P269T 805C>A LUSC-US 19 56203162 56203162 single base substitution C A missense_variant P355T 1063C>A LUSC-US 19 56203162 56203162 single base substitution C A upstream_gene_variant LUSC-US 19 56206164 56206164 single base substitution G T downstream_gene_variant LUSC-US 19 56206164 56206164 single base substitution G T intron_variant LUSC-US 19 56206164 56206164 single base substitution G T missense_variant G420V 1259G>T LUSC-US 19 56206164 56206164 single base substitution G T missense_variant G446V 1337G>T LUSC-US 19 56206164 56206164 single base substitution G T missense_variant G532V 1595G>T LUSC-US 19 56206529 56206529 single base substitution G T downstream_gene_variant LUSC-US 19 56206529 56206529 single base substitution G T intron_variant LUSC-US 19 56206529 56206529 single base substitution G T missense_variant G487V 1460G>T LUSC-US 19 56206529 56206529 single base substitution G T missense_variant G513V 1538G>T LUSC-US 19 56206529 56206529 single base substitution G T missense_variant G599V 1796G>T LUSC-US 19 56220399 56220399 single base substitution G A intron_variant LUSC-US 19 56223865 56223865 single base substitution G C downstream_gene_variant MALY-DE 19 56213486 56213486 single base substitution C G intron_variant MALY-DE 19 56217175 56217176 deletion of <=200bp AT - intron_variant MALY-DE 19 56221608 56221608 single base substitution G A downstream_gene_variant MALY-DE 19 56223470 56223470 single base substitution G A downstream_gene_variant MALY-DE 19 56223812 56223812 single base substitution A C downstream_gene_variant MELA-AU 19 56181672 56181672 single base substitution G A upstream_gene_variant MELA-AU 19 56181733 56181733 single base substitution A T upstream_gene_variant MELA-AU 19 56181791 56181791 single base substitution C T upstream_gene_variant MELA-AU 19 56181824 56181824 single base substitution C T upstream_gene_variant MELA-AU 19 56181985 56181985 single base substitution C T upstream_gene_variant MELA-AU 19 56182209 56182209 single base substitution A T upstream_gene_variant MELA-AU 19 56182268 56182268 single base substitution C T upstream_gene_variant MELA-AU 19 56182797 56182797 single base substitution C T upstream_gene_variant MELA-AU 19 56183708 56183708 single base substitution C T upstream_gene_variant MELA-AU 19 56183803 56183803 single base substitution C T upstream_gene_variant MELA-AU 19 56184133 56184133 single base substitution C T upstream_gene_variant MELA-AU 19 56184508 56184508 single base substitution C T upstream_gene_variant MELA-AU 19 56184588 56184588 single base substitution G A upstream_gene_variant MELA-AU 19 56184835 56184835 single base substitution G C upstream_gene_variant MELA-AU 19 56185203 56185203 single base substitution C T upstream_gene_variant MELA-AU 19 56185209 56185209 single base substitution C T upstream_gene_variant MELA-AU 19 56185999 56185999 single base substitution C T upstream_gene_variant MELA-AU 19 56186575 56186575 single base substitution C T upstream_gene_variant MELA-AU 19 56186580 56186580 single base substitution C T upstream_gene_variant MELA-AU 19 56187528 56187528 single base substitution T C intron_variant MELA-AU 19 56187528 56187528 single base substitution T C upstream_gene_variant MELA-AU 19 56188140 56188140 single base substitution T A 5_prime_UTR_variant MELA-AU 19 56188140 56188140 single base substitution T A intron_variant MELA-AU 19 56188140 56188140 single base substitution T A upstream_gene_variant MELA-AU 19 56188510 56188510 single base substitution C T 5_prime_UTR_variant MELA-AU 19 56188510 56188510 single base substitution C T intron_variant MELA-AU 19 56188510 56188510 single base substitution C T upstream_gene_variant MELA-AU 19 56189113 56189113 single base substitution C T intron_variant MELA-AU 19 56189113 56189113 single base substitution C T upstream_gene_variant MELA-AU 19 56189177 56189177 single base substitution G T intron_variant MELA-AU 19 56189177 56189177 single base substitution G T upstream_gene_variant MELA-AU 19 56189821 56189821 single base substitution C T intron_variant MELA-AU 19 56189821 56189821 single base substitution C T upstream_gene_variant MELA-AU 19 56189851 56189851 single base substitution C T intron_variant MELA-AU 19 56189851 56189851 single base substitution C T upstream_gene_variant MELA-AU 19 56189869 56189869 single base substitution C T intron_variant MELA-AU 19 56189869 56189869 single base substitution C T upstream_gene_variant MELA-AU 19 56189960 56189961 multiple base substitution (>=2bp and <=200bp) GG AA 5_prime_UTR_variant MELA-AU 19 56189960 56189961 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant GA100GT MELA-AU 19 56189960 56189961 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 19 56190066 56190066 single base substitution C T stop_gained R136* 406C>T MELA-AU 19 56190066 56190066 single base substitution C T stop_gained R25* 73C>T MELA-AU 19 56190066 56190066 single base substitution C T upstream_gene_variant MELA-AU 19 56190088 56190088 single base substitution C T missense_variant P143L 428C>T MELA-AU 19 56190088 56190088 single base substitution C T missense_variant P32L 95C>T MELA-AU 19 56190088 56190088 single base substitution C T upstream_gene_variant MELA-AU 19 56190722 56190722 single base substitution C T intron_variant MELA-AU 19 56190722 56190722 single base substitution C T upstream_gene_variant MELA-AU 19 56191185 56191185 single base substitution G A intron_variant MELA-AU 19 56191185 56191185 single base substitution G A upstream_gene_variant MELA-AU 19 56192065 56192065 single base substitution C T exon_variant MELA-AU 19 56192065 56192065 single base substitution C T intron_variant MELA-AU 19 56192089 56192089 single base substitution C T exon_variant MELA-AU 19 56192089 56192089 single base substitution C T intron_variant MELA-AU 19 56192318 56192318 single base substitution T G intron_variant MELA-AU 19 56192380 56192380 single base substitution G A intron_variant MELA-AU 19 56192660 56192661 multiple base substitution (>=2bp and <=200bp) GG CA intron_variant MELA-AU 19 56193130 56193130 single base substitution C T intron_variant MELA-AU 19 56193246 56193246 single base substitution T G intron_variant MELA-AU 19 56193706 56193706 single base substitution C T intron_variant MELA-AU 19 56194815 56194815 single base substitution C T intron_variant MELA-AU 19 56194983 56194983 single base substitution T G intron_variant MELA-AU 19 56195107 56195107 single base substitution C T intron_variant MELA-AU 19 56195693 56195693 single base substitution C T intron_variant MELA-AU 19 56195816 56195816 single base substitution C T intron_variant MELA-AU 19 56195923 56195923 single base substitution C T intron_variant MELA-AU 19 56196551 56196551 single base substitution C T intron_variant MELA-AU 19 56197024 56197024 single base substitution C T intron_variant MELA-AU 19 56197150 56197150 single base substitution C T intron_variant MELA-AU 19 56197890 56197890 single base substitution C T intron_variant MELA-AU 19 56198025 56198025 single base substitution G A intron_variant MELA-AU 19 56198452 56198452 single base substitution C T intron_variant MELA-AU 19 56199051 56199051 single base substitution C T intron_variant MELA-AU 19 56199051 56199051 single base substitution C T upstream_gene_variant MELA-AU 19 56199657 56199657 single base substitution C A intron_variant MELA-AU 19 56199657 56199657 single base substitution C A upstream_gene_variant MELA-AU 19 56199889 56199889 single base substitution C T intron_variant MELA-AU 19 56199889 56199889 single base substitution C T upstream_gene_variant MELA-AU 19 56200017 56200017 single base substitution C T intron_variant MELA-AU 19 56200017 56200017 single base substitution C T upstream_gene_variant MELA-AU 19 56200480 56200480 single base substitution G T intron_variant MELA-AU 19 56200480 56200480 single base substitution G T upstream_gene_variant MELA-AU 19 56200657 56200657 single base substitution C T intron_variant MELA-AU 19 56200657 56200657 single base substitution C T splice_region_variant MELA-AU 19 56200657 56200657 single base substitution C T upstream_gene_variant MELA-AU 19 56200772 56200772 single base substitution G A intron_variant MELA-AU 19 56200772 56200772 single base substitution G A upstream_gene_variant MELA-AU 19 56200779 56200779 single base substitution C T intron_variant MELA-AU 19 56200779 56200779 single base substitution C T upstream_gene_variant MELA-AU 19 56201042 56201042 single base substitution C T intron_variant MELA-AU 19 56201042 56201042 single base substitution C T upstream_gene_variant MELA-AU 19 56201214 56201214 single base substitution C T intron_variant MELA-AU 19 56201214 56201214 single base substitution C T upstream_gene_variant MELA-AU 19 56201337 56201337 single base substitution C T downstream_gene_variant MELA-AU 19 56201337 56201337 single base substitution C T intron_variant MELA-AU 19 56201337 56201337 single base substitution C T upstream_gene_variant MELA-AU 19 56201360 56201360 single base substitution C T downstream_gene_variant MELA-AU 19 56201360 56201360 single base substitution C T intron_variant MELA-AU 19 56201360 56201360 single base substitution C T upstream_gene_variant MELA-AU 19 56201703 56201703 single base substitution C T downstream_gene_variant MELA-AU 19 56201703 56201703 single base substitution C T intron_variant MELA-AU 19 56201703 56201703 single base substitution C T upstream_gene_variant MELA-AU 19 56201752 56201752 single base substitution C T downstream_gene_variant MELA-AU 19 56201752 56201752 single base substitution C T intron_variant MELA-AU 19 56201752 56201752 single base substitution C T upstream_gene_variant MELA-AU 19 56201755 56201755 single base substitution C T downstream_gene_variant MELA-AU 19 56201755 56201755 single base substitution C T intron_variant MELA-AU 19 56201755 56201755 single base substitution C T upstream_gene_variant MELA-AU 19 56201772 56201772 single base substitution C T downstream_gene_variant MELA-AU 19 56201772 56201772 single base substitution C T intron_variant MELA-AU 19 56201772 56201772 single base substitution C T upstream_gene_variant MELA-AU 19 56201923 56201923 single base substitution C T downstream_gene_variant MELA-AU 19 56201923 56201923 single base substitution C T intron_variant MELA-AU 19 56201923 56201923 single base substitution C T upstream_gene_variant MELA-AU 19 56201969 56201969 single base substitution T C downstream_gene_variant MELA-AU 19 56201969 56201969 single base substitution T C intron_variant MELA-AU 19 56201969 56201969 single base substitution T C upstream_gene_variant MELA-AU 19 56203040 56203040 single base substitution C T downstream_gene_variant MELA-AU 19 56203040 56203040 single base substitution C T intron_variant MELA-AU 19 56203040 56203040 single base substitution C T upstream_gene_variant MELA-AU 19 56203215 56203215 single base substitution C T downstream_gene_variant MELA-AU 19 56203215 56203215 single base substitution C T synonymous_variant V261V 783C>T MELA-AU 19 56203215 56203215 single base substitution C T synonymous_variant V286V 858C>T MELA-AU 19 56203215 56203215 single base substitution C T synonymous_variant V372V 1116C>T MELA-AU 19 56203215 56203215 single base substitution C T upstream_gene_variant MELA-AU 19 56203242 56203242 single base substitution C T downstream_gene_variant MELA-AU 19 56203242 56203242 single base substitution C T synonymous_variant P270P 810C>T MELA-AU 19 56203242 56203242 single base substitution C T synonymous_variant P295P 885C>T MELA-AU 19 56203242 56203242 single base substitution C T synonymous_variant P381P 1143C>T MELA-AU 19 56203242 56203242 single base substitution C T upstream_gene_variant MELA-AU 19 56203253 56203253 single base substitution C T downstream_gene_variant MELA-AU 19 56203253 56203253 single base substitution C T missense_variant P274L 821C>T MELA-AU 19 56203253 56203253 single base substitution C T missense_variant P299L 896C>T MELA-AU 19 56203253 56203253 single base substitution C T missense_variant P385L 1154C>T MELA-AU 19 56203253 56203253 single base substitution C T upstream_gene_variant MELA-AU 19 56203261 56203261 single base substitution C T downstream_gene_variant MELA-AU 19 56203261 56203261 single base substitution C T missense_variant P277S 829C>T MELA-AU 19 56203261 56203261 single base substitution C T missense_variant P302S 904C>T MELA-AU 19 56203261 56203261 single base substitution C T missense_variant P388S 1162C>T MELA-AU 19 56203261 56203261 single base substitution C T upstream_gene_variant MELA-AU 19 56203568 56203568 single base substitution G T downstream_gene_variant MELA-AU 19 56203568 56203568 single base substitution G T intron_variant MELA-AU 19 56203568 56203568 single base substitution G T upstream_gene_variant MELA-AU 19 56203844 56203844 single base substitution C T downstream_gene_variant MELA-AU 19 56203844 56203844 single base substitution C T intron_variant MELA-AU 19 56203844 56203844 single base substitution C T upstream_gene_variant MELA-AU 19 56203921 56203921 single base substitution C T downstream_gene_variant MELA-AU 19 56203921 56203921 single base substitution C T intron_variant MELA-AU 19 56203921 56203921 single base substitution C T upstream_gene_variant MELA-AU 19 56204330 56204330 single base substitution C T downstream_gene_variant MELA-AU 19 56204330 56204330 single base substitution C T exon_variant MELA-AU 19 56204330 56204330 single base substitution C T synonymous_variant F13F 39C>T MELA-AU 19 56204330 56204330 single base substitution C T synonymous_variant F371F 1113C>T MELA-AU 19 56204330 56204330 single base substitution C T synonymous_variant F397F 1191C>T MELA-AU 19 56204330 56204330 single base substitution C T synonymous_variant F483F 1449C>T MELA-AU 19 56204389 56204390 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 19 56204389 56204390 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 19 56204389 56204390 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant S33F 98CC>TT MELA-AU 19 56204389 56204390 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant S391F 1172CC>TT MELA-AU 19 56204389 56204390 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant S417F 1250CC>TT MELA-AU 19 56204389 56204390 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant S503F 1508CC>TT MELA-AU 19 56204455 56204455 single base substitution C T downstream_gene_variant MELA-AU 19 56204455 56204455 single base substitution C T exon_variant MELA-AU 19 56204455 56204455 single base substitution C T intron_variant MELA-AU 19 56205411 56205411 single base substitution C T downstream_gene_variant MELA-AU 19 56205411 56205411 single base substitution C T intron_variant MELA-AU 19 56205557 56205557 single base substitution C T downstream_gene_variant MELA-AU 19 56205557 56205557 single base substitution C T intron_variant MELA-AU 19 56205777 56205777 single base substitution C T downstream_gene_variant MELA-AU 19 56205777 56205777 single base substitution C T intron_variant MELA-AU 19 56205792 56205792 single base substitution G A downstream_gene_variant MELA-AU 19 56205792 56205792 single base substitution G A intron_variant MELA-AU 19 56205996 56205996 single base substitution C T downstream_gene_variant MELA-AU 19 56205996 56205996 single base substitution C T intron_variant MELA-AU 19 56206167 56206167 single base substitution C T downstream_gene_variant MELA-AU 19 56206167 56206167 single base substitution C T intron_variant MELA-AU 19 56206167 56206167 single base substitution C T missense_variant S421F 1262C>T MELA-AU 19 56206167 56206167 single base substitution C T missense_variant S447F 1340C>T MELA-AU 19 56206167 56206167 single base substitution C T missense_variant S533F 1598C>T MELA-AU 19 56206590 56206590 single base substitution C T downstream_gene_variant MELA-AU 19 56206590 56206590 single base substitution C T intron_variant MELA-AU 19 56206590 56206590 single base substitution C T synonymous_variant L507L 1521C>T MELA-AU 19 56206590 56206590 single base substitution C T synonymous_variant L533L 1599C>T MELA-AU 19 56206590 56206590 single base substitution C T synonymous_variant L619L 1857C>T MELA-AU 19 56206615 56206615 single base substitution C T downstream_gene_variant MELA-AU 19 56206615 56206615 single base substitution C T intron_variant MELA-AU 19 56206615 56206615 single base substitution C T missense_variant P516S 1546C>T MELA-AU 19 56206615 56206615 single base substitution C T missense_variant P542S 1624C>T MELA-AU 19 56206615 56206615 single base substitution C T missense_variant P628S 1882C>T MELA-AU 19 56206681 56206681 single base substitution C T downstream_gene_variant MELA-AU 19 56206681 56206681 single base substitution C T intron_variant MELA-AU 19 56206681 56206681 single base substitution C T missense_variant P538S 1612C>T MELA-AU 19 56206681 56206681 single base substitution C T missense_variant P564S 1690C>T MELA-AU 19 56206681 56206681 single base substitution C T missense_variant P650S 1948C>T MELA-AU 19 56206695 56206695 single base substitution C T downstream_gene_variant MELA-AU 19 56206695 56206695 single base substitution C T intron_variant MELA-AU 19 56206695 56206695 single base substitution C T synonymous_variant A542A 1626C>T MELA-AU 19 56206695 56206695 single base substitution C T synonymous_variant A568A 1704C>T MELA-AU 19 56206695 56206695 single base substitution C T synonymous_variant A654A 1962C>T MELA-AU 19 56206765 56206765 single base substitution C T 3_prime_UTR_variant MELA-AU 19 56206765 56206765 single base substitution C T downstream_gene_variant MELA-AU 19 56206765 56206765 single base substitution C T intron_variant MELA-AU 19 56206838 56206838 single base substitution C G 3_prime_UTR_variant MELA-AU 19 56206838 56206838 single base substitution C G downstream_gene_variant MELA-AU 19 56206838 56206838 single base substitution C G intron_variant MELA-AU 19 56206872 56206872 single base substitution C A 3_prime_UTR_variant MELA-AU 19 56206872 56206872 single base substitution C A downstream_gene_variant MELA-AU 19 56206872 56206872 single base substitution C A intron_variant MELA-AU 19 56207038 56207038 single base substitution C T 3_prime_UTR_variant MELA-AU 19 56207038 56207038 single base substitution C T downstream_gene_variant MELA-AU 19 56207038 56207038 single base substitution C T intron_variant MELA-AU 19 56207534 56207534 single base substitution C T downstream_gene_variant MELA-AU 19 56207534 56207534 single base substitution C T intron_variant MELA-AU 19 56207645 56207645 single base substitution C T downstream_gene_variant MELA-AU 19 56207645 56207645 single base substitution C T intron_variant MELA-AU 19 56207689 56207689 single base substitution G A downstream_gene_variant MELA-AU 19 56207689 56207689 single base substitution G A intron_variant MELA-AU 19 56209737 56209737 single base substitution G A downstream_gene_variant MELA-AU 19 56209737 56209737 single base substitution G A intron_variant MELA-AU 19 56210115 56210116 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 19 56210115 56210116 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 19 56210708 56210708 single base substitution C T downstream_gene_variant MELA-AU 19 56210708 56210708 single base substitution C T intron_variant MELA-AU 19 56210817 56210818 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 19 56210817 56210818 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 19 56211469 56211469 single base substitution T A downstream_gene_variant MELA-AU 19 56211469 56211469 single base substitution T A intron_variant MELA-AU 19 56211614 56211614 single base substitution C T downstream_gene_variant MELA-AU 19 56211614 56211614 single base substitution C T intron_variant MELA-AU 19 56211635 56211635 single base substitution C T downstream_gene_variant MELA-AU 19 56211635 56211635 single base substitution C T intron_variant MELA-AU 19 56211828 56211828 single base substitution C T downstream_gene_variant MELA-AU 19 56211828 56211828 single base substitution C T intron_variant MELA-AU 19 56212165 56212165 single base substitution G A intron_variant MELA-AU 19 56212350 56212350 single base substitution C T intron_variant MELA-AU 19 56212406 56212406 single base substitution G A intron_variant MELA-AU 19 56212428 56212428 single base substitution C G intron_variant MELA-AU 19 56212698 56212698 single base substitution C T intron_variant MELA-AU 19 56213362 56213362 single base substitution C T intron_variant MELA-AU 19 56213467 56213467 single base substitution A G intron_variant MELA-AU 19 56213530 56213530 single base substitution T C intron_variant MELA-AU 19 56213654 56213663 deletion of <=200bp AGGCCCTTCG - intron_variant MELA-AU 19 56213881 56213881 single base substitution C T intron_variant MELA-AU 19 56214152 56214152 single base substitution C T intron_variant MELA-AU 19 56214418 56214418 single base substitution C T intron_variant MELA-AU 19 56214490 56214490 single base substitution C T intron_variant MELA-AU 19 56214758 56214758 single base substitution C T intron_variant MELA-AU 19 56214941 56214941 single base substitution C T intron_variant MELA-AU 19 56215171 56215171 single base substitution T C intron_variant MELA-AU 19 56215272 56215273 multiple base substitution (>=2bp and <=200bp) GA AG intron_variant MELA-AU 19 56215399 56215400 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 19 56215663 56215663 single base substitution C T intron_variant MELA-AU 19 56215775 56215775 single base substitution C T intron_variant MELA-AU 19 56216168 56216168 single base substitution C T intron_variant MELA-AU 19 56217058 56217058 single base substitution A T intron_variant MELA-AU 19 56217212 56217212 single base substitution A T intron_variant MELA-AU 19 56217271 56217271 single base substitution G A intron_variant MELA-AU 19 56217379 56217379 single base substitution T C intron_variant MELA-AU 19 56217512 56217512 single base substitution T C intron_variant MELA-AU 19 56217549 56217549 single base substitution C T intron_variant MELA-AU 19 56217652 56217652 single base substitution T C intron_variant MELA-AU 19 56217944 56217944 single base substitution G A intron_variant MELA-AU 19 56218013 56218013 single base substitution G A intron_variant MELA-AU 19 56218540 56218540 single base substitution G A intron_variant MELA-AU 19 56218756 56218756 single base substitution C T intron_variant MELA-AU 19 56218940 56218940 single base substitution C T intron_variant MELA-AU 19 56219375 56219375 single base substitution C T intron_variant MELA-AU 19 56220128 56220128 single base substitution C T intron_variant MELA-AU 19 56220224 56220224 single base substitution C T intron_variant MELA-AU 19 56220239 56220239 single base substitution G A intron_variant MELA-AU 19 56221082 56221082 single base substitution C T intron_variant MELA-AU 19 56221238 56221238 single base substitution G A downstream_gene_variant MELA-AU 19 56221393 56221393 single base substitution C T downstream_gene_variant MELA-AU 19 56221654 56221654 single base substitution C T downstream_gene_variant MELA-AU 19 56221665 56221665 single base substitution C T downstream_gene_variant MELA-AU 19 56221698 56221698 single base substitution G A downstream_gene_variant MELA-AU 19 56221704 56221704 single base substitution C T downstream_gene_variant MELA-AU 19 56221720 56221720 single base substitution G A downstream_gene_variant MELA-AU 19 56221850 56221850 single base substitution C T downstream_gene_variant MELA-AU 19 56221876 56221876 single base substitution G A downstream_gene_variant MELA-AU 19 56221928 56221928 single base substitution C T downstream_gene_variant MELA-AU 19 56221961 56221961 single base substitution G A downstream_gene_variant MELA-AU 19 56222007 56222007 single base substitution C T downstream_gene_variant MELA-AU 19 56222072 56222072 single base substitution C T downstream_gene_variant MELA-AU 19 56222243 56222243 single base substitution G A downstream_gene_variant MELA-AU 19 56222297 56222297 single base substitution G A downstream_gene_variant MELA-AU 19 56222367 56222367 single base substitution C T downstream_gene_variant MELA-AU 19 56222620 56222620 single base substitution A G downstream_gene_variant MELA-AU 19 56222626 56222626 single base substitution A C downstream_gene_variant MELA-AU 19 56222631 56222631 single base substitution T A downstream_gene_variant MELA-AU 19 56222658 56222658 single base substitution G A downstream_gene_variant MELA-AU 19 56223279 56223279 single base substitution G A downstream_gene_variant MELA-AU 19 56223593 56223593 single base substitution G A downstream_gene_variant MELA-AU 19 56223606 56223606 single base substitution C T downstream_gene_variant MELA-AU 19 56223643 56223643 single base substitution C T downstream_gene_variant MELA-AU 19 56223750 56223750 single base substitution T G downstream_gene_variant MELA-AU 19 56223941 56223941 single base substitution G A downstream_gene_variant MELA-AU 19 56223968 56223968 single base substitution G A downstream_gene_variant MELA-AU 19 56224527 56224527 single base substitution C T downstream_gene_variant MELA-AU 19 56225345 56225345 single base substitution G A downstream_gene_variant MELA-AU 19 56225530 56225530 single base substitution G A downstream_gene_variant MELA-AU 19 56225643 56225643 single base substitution G A downstream_gene_variant MELA-AU 19 56225644 56225644 single base substitution G A downstream_gene_variant MELA-AU 19 56225753 56225753 single base substitution G A downstream_gene_variant MELA-AU 19 56225784 56225784 single base substitution G A downstream_gene_variant MELA-AU 19 56225786 56225786 single base substitution G A downstream_gene_variant MELA-AU 19 56225876 56225876 single base substitution C T downstream_gene_variant MELA-AU 19 56225902 56225902 single base substitution C T downstream_gene_variant MELA-AU 19 56225903 56225903 single base substitution C T downstream_gene_variant MELA-AU 19 56225914 56225914 single base substitution C T downstream_gene_variant MELA-AU 19 56226038 56226038 single base substitution C T downstream_gene_variant MELA-AU 19 56226122 56226122 single base substitution G A downstream_gene_variant MELA-AU 19 56226161 56226161 single base substitution G A downstream_gene_variant OV-AU 19 56186166 56186166 single base substitution C A upstream_gene_variant OV-AU 19 56188502 56188502 single base substitution G A 5_prime_UTR_variant OV-AU 19 56188502 56188502 single base substitution G A intron_variant OV-AU 19 56188502 56188502 single base substitution G A upstream_gene_variant OV-AU 19 56195983 56195983 single base substitution C A intron_variant OV-AU 19 56199047 56199047 single base substitution C G intron_variant OV-AU 19 56199047 56199047 single base substitution C G upstream_gene_variant OV-AU 19 56211507 56211507 single base substitution T C downstream_gene_variant OV-AU 19 56211507 56211507 single base substitution T C intron_variant OV-AU 19 56213897 56213897 single base substitution C G intron_variant OV-AU 19 56213949 56213949 single base substitution G A intron_variant OV-AU 19 56217284 56217284 single base substitution C T intron_variant PACA-AU 19 56182926 56182926 single base substitution G A upstream_gene_variant PACA-AU 19 56183064 56183064 single base substitution C G upstream_gene_variant PACA-AU 19 56185923 56185923 single base substitution T G upstream_gene_variant PACA-AU 19 56191315 56191315 single base substitution A T intron_variant PACA-AU 19 56191315 56191315 single base substitution A T upstream_gene_variant PACA-AU 19 56192094 56192094 single base substitution C T exon_variant PACA-AU 19 56192094 56192094 single base substitution C T intron_variant PACA-AU 19 56195714 56195714 deletion of <=200bp T - intron_variant PACA-AU 19 56196239 56196239 single base substitution C T intron_variant PACA-AU 19 56197274 56197274 single base substitution G A intron_variant PACA-AU 19 56203032 56203032 single base substitution C T downstream_gene_variant PACA-AU 19 56203032 56203032 single base substitution C T intron_variant PACA-AU 19 56203032 56203032 single base substitution C T upstream_gene_variant PACA-AU 19 56203457 56203457 single base substitution C T downstream_gene_variant PACA-AU 19 56203457 56203457 single base substitution C T intron_variant PACA-AU 19 56203457 56203457 single base substitution C T upstream_gene_variant PACA-AU 19 56207862 56207862 single base substitution C T downstream_gene_variant PACA-AU 19 56207862 56207862 single base substitution C T intron_variant PACA-AU 19 56210764 56210764 single base substitution T G downstream_gene_variant PACA-AU 19 56210764 56210764 single base substitution T G intron_variant PACA-AU 19 56224911 56224911 single base substitution C T downstream_gene_variant PACA-AU 19 56225551 56225554 deletion of <=200bp CTGA - downstream_gene_variant PACA-CA 19 56184481 56184481 single base substitution C T upstream_gene_variant PACA-CA 19 56185246 56185246 single base substitution A T upstream_gene_variant PACA-CA 19 56186518 56186518 single base substitution C T upstream_gene_variant PACA-CA 19 56187417 56187417 deletion of <=200bp C - intron_variant PACA-CA 19 56187417 56187417 deletion of <=200bp C - upstream_gene_variant PACA-CA 19 56188773 56188773 single base substitution T C intron_variant PACA-CA 19 56188773 56188773 single base substitution T C upstream_gene_variant PACA-CA 19 56189127 56189127 single base substitution T G intron_variant PACA-CA 19 56189127 56189127 single base substitution T G upstream_gene_variant PACA-CA 19 56192667 56192667 single base substitution C G intron_variant PACA-CA 19 56197084 56197084 single base substitution G A intron_variant PACA-CA 19 56197249 56197249 single base substitution G A intron_variant PACA-CA 19 56202037 56202037 single base substitution C T downstream_gene_variant PACA-CA 19 56202037 56202037 single base substitution C T intron_variant PACA-CA 19 56202037 56202037 single base substitution C T upstream_gene_variant PACA-CA 19 56204051 56204051 single base substitution G T downstream_gene_variant PACA-CA 19 56204051 56204051 single base substitution G T exon_variant PACA-CA 19 56204051 56204051 single base substitution G T splice_acceptor_variant PACA-CA 19 56204051 56204051 single base substitution G T upstream_gene_variant PACA-CA 19 56206141 56206141 single base substitution G A downstream_gene_variant PACA-CA 19 56206141 56206141 single base substitution G A intron_variant PACA-CA 19 56206141 56206141 single base substitution G A synonymous_variant A412A 1236G>A PACA-CA 19 56206141 56206141 single base substitution G A synonymous_variant A438A 1314G>A PACA-CA 19 56206141 56206141 single base substitution G A synonymous_variant A524A 1572G>A PACA-CA 19 56209953 56209953 single base substitution C T downstream_gene_variant PACA-CA 19 56209953 56209953 single base substitution C T intron_variant PACA-CA 19 56212928 56212928 single base substitution T A intron_variant PACA-CA 19 56214027 56214030 deletion of <=200bp TTGC - intron_variant PACA-CA 19 56216277 56216277 single base substitution A G intron_variant PACA-CA 19 56223901 56223901 single base substitution T G downstream_gene_variant PACA-CA 19 56224146 56224146 single base substitution T C downstream_gene_variant PAEN-AU 19 56183592 56183592 single base substitution G C upstream_gene_variant PAEN-IT 19 56182681 56182681 single base substitution T G upstream_gene_variant PAEN-IT 19 56223458 56223458 single base substitution C T downstream_gene_variant PBCA-DE 19 56192561 56192561 single base substitution C T intron_variant PBCA-DE 19 56197693 56197693 single base substitution A G intron_variant PBCA-DE 19 56198058 56198058 single base substitution C T intron_variant PBCA-DE 19 56201943 56201943 single base substitution A G downstream_gene_variant PBCA-DE 19 56201943 56201943 single base substitution A G intron_variant PBCA-DE 19 56201943 56201943 single base substitution A G upstream_gene_variant PBCA-DE 19 56205918 56205918 single base substitution C T downstream_gene_variant PBCA-DE 19 56205918 56205918 single base substitution C T intron_variant PBCA-DE 19 56206518 56206518 insertion of <=200bp - C downstream_gene_variant PBCA-DE 19 56206518 56206518 insertion of <=200bp - C frameshift_variant G483G? PBCA-DE 19 56206518 56206518 insertion of <=200bp - C frameshift_variant G509G? PBCA-DE 19 56206518 56206518 insertion of <=200bp - C frameshift_variant G595G? PBCA-DE 19 56206518 56206518 insertion of <=200bp - C intron_variant PBCA-DE 19 56212427 56212427 single base substitution G A intron_variant PBCA-DE 19 56214169 56214169 insertion of <=200bp - T intron_variant PBCA-DE 19 56225953 56225953 insertion of <=200bp - T downstream_gene_variant PRAD-CA 19 56208484 56208484 single base substitution C T downstream_gene_variant PRAD-CA 19 56208484 56208484 single base substitution C T intron_variant PRAD-UK 19 56183384 56183384 single base substitution A G upstream_gene_variant PRAD-UK 19 56186947 56186947 insertion of <=200bp - C intron_variant PRAD-UK 19 56186947 56186947 insertion of <=200bp - C upstream_gene_variant PRAD-UK 19 56192511 56192511 single base substitution G A intron_variant PRAD-UK 19 56199115 56199115 single base substitution C T intron_variant PRAD-UK 19 56199115 56199115 single base substitution C T upstream_gene_variant PRAD-UK 19 56199423 56199423 single base substitution G T intron_variant PRAD-UK 19 56199423 56199423 single base substitution G T upstream_gene_variant PRAD-UK 19 56207602 56207602 single base substitution C T downstream_gene_variant PRAD-UK 19 56207602 56207602 single base substitution C T intron_variant PRAD-UK 19 56211826 56211826 single base substitution C T downstream_gene_variant PRAD-UK 19 56211826 56211826 single base substitution C T intron_variant PRAD-UK 19 56222277 56222277 single base substitution C A downstream_gene_variant PRAD-UK 19 56225612 56225612 single base substitution G C downstream_gene_variant PRAD-US 19 56206666 56206666 deletion of <=200bp C - downstream_gene_variant PRAD-US 19 56206666 56206666 deletion of <=200bp C - frameshift_variant P533 PRAD-US 19 56206666 56206666 deletion of <=200bp C - frameshift_variant P559 PRAD-US 19 56206666 56206666 deletion of <=200bp C - frameshift_variant P645 PRAD-US 19 56206666 56206666 deletion of <=200bp C - intron_variant READ-US 19 56185420 56185420 single base substitution C T upstream_gene_variant READ-US 19 56196847 56196847 single base substitution C T exon_variant READ-US 19 56196847 56196847 single base substitution C T missense_variant T105M 314C>T READ-US 19 56196847 56196847 single base substitution C T missense_variant T216M 647C>T READ-US 19 56206694 56206694 single base substitution C G downstream_gene_variant READ-US 19 56206694 56206694 single base substitution C G intron_variant READ-US 19 56206694 56206694 single base substitution C G missense_variant A542G 1625C>G READ-US 19 56206694 56206694 single base substitution C G missense_variant A568G 1703C>G READ-US 19 56206694 56206694 single base substitution C G missense_variant A654G 1961C>G RECA-EU 19 56187783 56187783 single base substitution G T intron_variant RECA-EU 19 56187783 56187783 single base substitution G T upstream_gene_variant RECA-EU 19 56187784 56187784 single base substitution C T intron_variant RECA-EU 19 56187784 56187784 single base substitution C T upstream_gene_variant RECA-EU 19 56193521 56193521 single base substitution T C intron_variant RECA-EU 19 56194010 56194010 single base substitution G C intron_variant RECA-EU 19 56197182 56197182 single base substitution T C intron_variant RECA-EU 19 56214732 56214732 single base substitution C A intron_variant RECA-EU 19 56222054 56222054 single base substitution C T downstream_gene_variant SKCA-BR 19 56181801 56181801 single base substitution G C upstream_gene_variant SKCA-BR 19 56182768 56182768 single base substitution T G upstream_gene_variant SKCA-BR 19 56184395 56184395 single base substitution A C upstream_gene_variant SKCA-BR 19 56184853 56184853 single base substitution T G upstream_gene_variant SKCA-BR 19 56184994 56184994 single base substitution A C upstream_gene_variant SKCA-BR 19 56185250 56185250 single base substitution G A upstream_gene_variant SKCA-BR 19 56185448 56185448 single base substitution A G upstream_gene_variant SKCA-BR 19 56185479 56185479 single base substitution C T upstream_gene_variant SKCA-BR 19 56185483 56185483 single base substitution A C upstream_gene_variant SKCA-BR 19 56185592 56185592 single base substitution C G upstream_gene_variant SKCA-BR 19 56186345 56186345 single base substitution T G upstream_gene_variant SKCA-BR 19 56186421 56186421 single base substitution C T upstream_gene_variant SKCA-BR 19 56194214 56194214 single base substitution C T intron_variant SKCA-BR 19 56195690 56195690 single base substitution C T intron_variant SKCA-BR 19 56196498 56196498 single base substitution C T intron_variant SKCA-BR 19 56197234 56197234 single base substitution C T intron_variant SKCA-BR 19 56198406 56198406 single base substitution T C intron_variant SKCA-BR 19 56201380 56201380 single base substitution C T downstream_gene_variant SKCA-BR 19 56201380 56201380 single base substitution C T intron_variant SKCA-BR 19 56201380 56201380 single base substitution C T upstream_gene_variant SKCA-BR 19 56202328 56202328 single base substitution C T downstream_gene_variant SKCA-BR 19 56202328 56202328 single base substitution C T intron_variant SKCA-BR 19 56202328 56202328 single base substitution C T upstream_gene_variant SKCA-BR 19 56202330 56202330 single base substitution C A downstream_gene_variant SKCA-BR 19 56202330 56202330 single base substitution C A intron_variant SKCA-BR 19 56202330 56202330 single base substitution C A upstream_gene_variant SKCA-BR 19 56203985 56203985 single base substitution A G downstream_gene_variant SKCA-BR 19 56203985 56203985 single base substitution A G intron_variant SKCA-BR 19 56203985 56203985 single base substitution A G upstream_gene_variant SKCA-BR 19 56205230 56205230 single base substitution T A downstream_gene_variant SKCA-BR 19 56205230 56205230 single base substitution T A intron_variant SKCA-BR 19 56205527 56205527 single base substitution G C downstream_gene_variant SKCA-BR 19 56205527 56205527 single base substitution G C intron_variant SKCA-BR 19 56205528 56205528 single base substitution T C downstream_gene_variant SKCA-BR 19 56205528 56205528 single base substitution T C intron_variant SKCA-BR 19 56208101 56208101 single base substitution C T downstream_gene_variant SKCA-BR 19 56208101 56208101 single base substitution C T intron_variant SKCA-BR 19 56208601 56208601 single base substitution A G downstream_gene_variant SKCA-BR 19 56208601 56208601 single base substitution A G intron_variant SKCA-BR 19 56209523 56209523 single base substitution T G downstream_gene_variant SKCA-BR 19 56209523 56209523 single base substitution T G intron_variant SKCA-BR 19 56210362 56210362 single base substitution G A downstream_gene_variant SKCA-BR 19 56210362 56210362 single base substitution G A intron_variant SKCA-BR 19 56213932 56213932 single base substitution C T intron_variant SKCA-BR 19 56214317 56214317 single base substitution C T intron_variant SKCA-BR 19 56217624 56217624 single base substitution C T intron_variant SKCA-BR 19 56217722 56217722 single base substitution G A intron_variant SKCA-BR 19 56220693 56220693 single base substitution C T intron_variant SKCA-BR 19 56221997 56221997 single base substitution T C downstream_gene_variant SKCA-BR 19 56222487 56222487 single base substitution T C downstream_gene_variant SKCA-BR 19 56222682 56222682 single base substitution C T downstream_gene_variant SKCA-BR 19 56223123 56223123 single base substitution C T downstream_gene_variant SKCA-BR 19 56226028 56226028 single base substitution G A downstream_gene_variant SKCM-US 19 56203242 56203242 single base substitution C T downstream_gene_variant SKCM-US 19 56203242 56203242 single base substitution C T synonymous_variant P270P 810C>T SKCM-US 19 56203242 56203242 single base substitution C T synonymous_variant P295P 885C>T SKCM-US 19 56203242 56203242 single base substitution C T synonymous_variant P381P 1143C>T SKCM-US 19 56203242 56203242 single base substitution C T upstream_gene_variant SKCM-US 19 56203253 56203253 single base substitution C T downstream_gene_variant SKCM-US 19 56203253 56203253 single base substitution C T missense_variant P274L 821C>T SKCM-US 19 56203253 56203253 single base substitution C T missense_variant P299L 896C>T SKCM-US 19 56203253 56203253 single base substitution C T missense_variant P385L 1154C>T SKCM-US 19 56203253 56203253 single base substitution C T upstream_gene_variant SKCM-US 19 56203261 56203261 single base substitution C T downstream_gene_variant SKCM-US 19 56203261 56203261 single base substitution C T missense_variant P277S 829C>T SKCM-US 19 56203261 56203261 single base substitution C T missense_variant P302S 904C>T SKCM-US 19 56203261 56203261 single base substitution C T missense_variant P388S 1162C>T SKCM-US 19 56203261 56203261 single base substitution C T upstream_gene_variant SKCM-US 19 56206167 56206167 single base substitution C T downstream_gene_variant SKCM-US 19 56206167 56206167 single base substitution C T intron_variant SKCM-US 19 56206167 56206167 single base substitution C T missense_variant S421F 1262C>T SKCM-US 19 56206167 56206167 single base substitution C T missense_variant S447F 1340C>T SKCM-US 19 56206167 56206167 single base substitution C T missense_variant S533F 1598C>T SKCM-US 19 56206615 56206615 single base substitution C T downstream_gene_variant SKCM-US 19 56206615 56206615 single base substitution C T intron_variant SKCM-US 19 56206615 56206615 single base substitution C T missense_variant P516S 1546C>T SKCM-US 19 56206615 56206615 single base substitution C T missense_variant P542S 1624C>T SKCM-US 19 56206615 56206615 single base substitution C T missense_variant P628S 1882C>T SKCM-US 19 56220307 56220307 single base substitution C T intron_variant SKCM-US 19 56220346 56220346 single base substitution G A intron_variant SKCM-US 19 56223315 56223315 single base substitution G A downstream_gene_variant SKCM-US 19 56223323 56223323 single base substitution G A downstream_gene_variant SKCM-US 19 56223854 56223854 single base substitution T A downstream_gene_variant SKCM-US 19 56223859 56223859 single base substitution C T downstream_gene_variant SKCM-US 19 56223890 56223890 single base substitution C T downstream_gene_variant STAD-US 19 56200241 56200241 single base substitution T C exon_variant STAD-US 19 56200241 56200241 single base substitution T C missense_variant S162P 484T>C STAD-US 19 56200241 56200241 single base substitution T C missense_variant S273P 817T>C STAD-US 19 56200241 56200241 single base substitution T C upstream_gene_variant STAD-US 19 56203184 56203184 deletion of <=200bp G - downstream_gene_variant STAD-US 19 56203184 56203184 deletion of <=200bp G - frameshift_variant W251 STAD-US 19 56203184 56203184 deletion of <=200bp G - frameshift_variant W276 STAD-US 19 56203184 56203184 deletion of <=200bp G - frameshift_variant W362 STAD-US 19 56203184 56203184 deletion of <=200bp G - upstream_gene_variant STAD-US 19 56203213 56203213 single base substitution G A downstream_gene_variant STAD-US 19 56203213 56203213 single base substitution G A missense_variant V261I 781G>A STAD-US 19 56203213 56203213 single base substitution G A missense_variant V286I 856G>A STAD-US 19 56203213 56203213 single base substitution G A missense_variant V372I 1114G>A STAD-US 19 56203213 56203213 single base substitution G A upstream_gene_variant STAD-US 19 56203248 56203248 single base substitution C T downstream_gene_variant STAD-US 19 56203248 56203248 single base substitution C T synonymous_variant G272G 816C>T STAD-US 19 56203248 56203248 single base substitution C T synonymous_variant G297G 891C>T STAD-US 19 56203248 56203248 single base substitution C T synonymous_variant G383G 1149C>T STAD-US 19 56203248 56203248 single base substitution C T upstream_gene_variant STAD-US 19 56203330 56203330 single base substitution G A downstream_gene_variant STAD-US 19 56203330 56203330 single base substitution G A missense_variant A300T 898G>A STAD-US 19 56203330 56203330 single base substitution G A missense_variant A325T 973G>A STAD-US 19 56203330 56203330 single base substitution G A missense_variant A411T 1231G>A STAD-US 19 56203330 56203330 single base substitution G A upstream_gene_variant STAD-US 19 56220340 56220340 single base substitution G A intron_variant STAD-US 19 56223313 56223313 single base substitution C T downstream_gene_variant STAD-US 19 56223792 56223792 single base substitution C T downstream_gene_variant UCEC-US 19 56185418 56185418 single base substitution G A upstream_gene_variant UCEC-US 19 56189046 56189046 single base substitution G A intron_variant UCEC-US 19 56189046 56189046 single base substitution G A missense_variant A60T 178G>A UCEC-US 19 56189046 56189046 single base substitution G A upstream_gene_variant UCEC-US 19 56190212 56190212 single base substitution C T synonymous_variant H184H 552C>T UCEC-US 19 56190212 56190212 single base substitution C T synonymous_variant H73H 219C>T UCEC-US 19 56190212 56190212 single base substitution C T upstream_gene_variant UCEC-US 19 56196840 56196840 single base substitution G A exon_variant UCEC-US 19 56196840 56196840 single base substitution G A missense_variant V103M 307G>A UCEC-US 19 56196840 56196840 single base substitution G A missense_variant V214M 640G>A UCEC-US 19 56196854 56196854 single base substitution G T exon_variant UCEC-US 19 56196854 56196854 single base substitution G T missense_variant K107N 321G>T UCEC-US 19 56196854 56196854 single base substitution G T missense_variant K218N 654G>T UCEC-US 19 56196917 56196917 single base substitution G T exon_variant UCEC-US 19 56196917 56196917 single base substitution G T missense_variant K128N 384G>T UCEC-US 19 56196917 56196917 single base substitution G T missense_variant K239N 717G>T UCEC-US 19 56200686 56200686 single base substitution C T exon_variant UCEC-US 19 56200686 56200686 single base substitution C T intron_variant UCEC-US 19 56200686 56200686 single base substitution C T synonymous_variant D209D 627C>T UCEC-US 19 56200686 56200686 single base substitution C T upstream_gene_variant UCEC-US 19 56204316 56204316 single base substitution G T downstream_gene_variant UCEC-US 19 56204316 56204316 single base substitution G T intron_variant UCEC-US 19 56204316 56204316 single base substitution G T splice_acceptor_variant UCEC-US 19 56204316 56204316 single base substitution G T splice_region_variant UCEC-US 19 56204336 56204336 single base substitution G A downstream_gene_variant UCEC-US 19 56204336 56204336 single base substitution G A exon_variant UCEC-US 19 56204336 56204336 single base substitution G A synonymous_variant T15T 45G>A UCEC-US 19 56204336 56204336 single base substitution G A synonymous_variant T373T 1119G>A UCEC-US 19 56204336 56204336 single base substitution G A synonymous_variant T399T 1197G>A UCEC-US 19 56204336 56204336 single base substitution G A synonymous_variant T485T 1455G>A UCEC-US 19 56204351 56204351 single base substitution C A downstream_gene_variant UCEC-US 19 56204351 56204351 single base substitution C A exon_variant UCEC-US 19 56204351 56204351 single base substitution C A missense_variant F20L 60C>A UCEC-US 19 56204351 56204351 single base substitution C A missense_variant F378L 1134C>A UCEC-US 19 56204351 56204351 single base substitution C A missense_variant F404L 1212C>A UCEC-US 19 56204351 56204351 single base substitution C A missense_variant F490L 1470C>A UCEC-US 19 56204369 56204369 single base substitution C T downstream_gene_variant UCEC-US 19 56204369 56204369 single base substitution C T exon_variant UCEC-US 19 56204369 56204369 single base substitution C T synonymous_variant L26L 78C>T UCEC-US 19 56204369 56204369 single base substitution C T synonymous_variant L384L 1152C>T UCEC-US 19 56204369 56204369 single base substitution C T synonymous_variant L410L 1230C>T UCEC-US 19 56204369 56204369 single base substitution C T synonymous_variant L496L 1488C>T UCEC-US 19 56204376 56204376 single base substitution G A downstream_gene_variant UCEC-US 19 56204376 56204376 single base substitution G A exon_variant UCEC-US 19 56204376 56204376 single base substitution G A missense_variant A29T 85G>A UCEC-US 19 56204376 56204376 single base substitution G A missense_variant A387T 1159G>A UCEC-US 19 56204376 56204376 single base substitution G A missense_variant A413T 1237G>A UCEC-US 19 56204376 56204376 single base substitution G A missense_variant A499T 1495G>A UCEC-US 19 56206141 56206141 single base substitution G A downstream_gene_variant UCEC-US 19 56206141 56206141 single base substitution G A intron_variant UCEC-US 19 56206141 56206141 single base substitution G A synonymous_variant A412A 1236G>A UCEC-US 19 56206141 56206141 single base substitution G A synonymous_variant A438A 1314G>A UCEC-US 19 56206141 56206141 single base substitution G A synonymous_variant A524A 1572G>A UCEC-US 19 56206308 56206308 single base substitution C T downstream_gene_variant UCEC-US 19 56206308 56206308 single base substitution C T intron_variant UCEC-US 19 56206308 56206308 single base substitution C T missense_variant T468M 1403C>T UCEC-US 19 56206308 56206308 single base substitution C T missense_variant T494M 1481C>T UCEC-US 19 56206308 56206308 single base substitution C T missense_variant T580M 1739C>T UCEC-US 19 56206349 56206349 single base substitution G A downstream_gene_variant UCEC-US 19 56206349 56206349 single base substitution G A intron_variant UCEC-US 19 56206349 56206349 single base substitution G A missense_variant G482R 1444G>A UCEC-US 19 56206349 56206349 single base substitution G A missense_variant G508R 1522G>A UCEC-US 19 56206349 56206349 single base substitution G A missense_variant G594R 1780G>A UCEC-US 19 56206560 56206560 single base substitution G A downstream_gene_variant UCEC-US 19 56206560 56206560 single base substitution G A intron_variant UCEC-US 19 56206560 56206560 single base substitution G A synonymous_variant A497A 1491G>A UCEC-US 19 56206560 56206560 single base substitution G A synonymous_variant A523A 1569G>A UCEC-US 19 56206560 56206560 single base substitution G A synonymous_variant A609A 1827G>A UCEC-US 19 56206692 56206692 single base substitution G A downstream_gene_variant UCEC-US 19 56206692 56206692 single base substitution G A intron_variant UCEC-US 19 56206692 56206692 single base substitution G A synonymous_variant P541P 1623G>A UCEC-US 19 56206692 56206692 single base substitution G A synonymous_variant P567P 1701G>A UCEC-US 19 56206692 56206692 single base substitution G A synonymous_variant P653P 1959G>A UCEC-US 19 56223274 56223274 single base substitution C T downstream_gene_variant UCEC-US 19 56223873 56223873 single base substitution T G downstream_gene_variant UCEC-US 19 56223929 56223929 single base substitution A C downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-ER-A19F-06 COSM3539501 c.1598C>T p.S533F Substitution - Missense 19:55694801-55694801 + RKO COSM4614856 c.1674_1675insC p.M561fs*12 Insertion - Frameshift 19:55695299-55695300 + TCGA-60-2698-01 COSM1148244 c.1538G>T p.G513V Substitution - Missense 19:55695163-55695163 + T3090 COSM4681400 c.892G>A p.G298S Substitution - Missense 19:55691883-55691883 + TCGA-EE-A2MJ-06 COSM3539504 c.1624C>T p.P542S Substitution - Missense 19:55695249-55695249 + COLO205 COSM2969207 c.348C>G p.S116S Substitution - coding silent 19:55678642-55678642 + Pat_51_A COSM5856826 c.133_157del25 p.D45fs*5 Deletion - Frameshift 19:55678760-55678784 + TCGA-22-4613-01 COSM1148243 c.1337G>T p.G446V Substitution - Missense 19:55694798-55694798 + BCM723T COSM4956513 c.773C>T p.A258V Substitution - Missense 19:55685607-55685607 + sysucc-1163T COSM5458787 c.66C>T p.C22C Substitution - coding silent 19:55677568-55677568 + 2492703 COSM5716542 c.1489C>T p.R497C Substitution - Missense 19:55693004-55693004 + TCGA-IR-A3LH-01 COSM4832784 c.792C>T p.F264F Substitution - coding silent 19:55691783-55691783 + 2492714 COSM5606525 c.1142C>T p.P381L Substitution - Missense 19:55691875-55691875 + 2492702 COSM5716543 c.1231C>T p.R411C Substitution - Missense 19:55693004-55693004 + S00938 COSM5663360 c.607G>A p.V203M Substitution - Missense 19:55685441-55685441 + COLO201 COSM2969208 c.15C>G p.S5S Substitution - coding silent 19:55678642-55678642 + TCGA-CK-5913-01 COSM1396648 c.879_881delGGA p.E296delE Deletion - In frame 19:55688937-55688939 + TCGA-D1-A17B-01 COSM1001618 c.1959G>A p.P653P Substitution - coding silent 19:55695326-55695326 + HCC32 COSM1612866 c.76G>T p.E26* Substitution - Nonsense 19:55678703-55678703 + TCGA-CK-4951-01 COSM5150436 c.599C>T p.S200L Substitution - Missense 19:55685433-55685433 + TCGA-G4-6628-01 COSM5180247 c.1949C>T p.P650L Substitution - Missense 19:55695316-55695316 + ACINAR01 COSM1735034 c.1226G>A p.R409Q Substitution - Missense 19:55692999-55692999 + 2367115 COSM4997305 c.1028G>T p.G343V Substitution - Missense 19:55692019-55692019 + BD57T COSM5511124 c.1134C>A p.P378P Substitution - coding silent 19:55692753-55692753 + CSCC-16-T COSM4515393 c.1082_1083CC>TT p.P361L Substitution - Missense 19:55691815-55691816 + T407 COSM1001610 c.1455G>A p.T485T Substitution - coding silent 19:55692970-55692970 + TCGA-CM-5861-01 COSM1396666 c.1900T>C p.Y634H Substitution - Missense 19:55695267-55695267 + TCGA-D1-A103-01 COSM1590297 c.1212C>A p.F404L Substitution - Missense 19:55692985-55692985 + I2L-P19Ta-Tumor-Biopsy COSM4681402 c.1252G>A p.G418R Substitution - Missense 19:55693025-55693025 + TCGA-AA-3510-01 COSM1396647 c.434C>T p.A145V Substitution - Missense 19:55685601-55685601 + TCGA-BR-6452-01 COSM4081647 c.856G>A p.V286I Substitution - Missense 19:55691847-55691847 + HCC32 COSM1612865 c.409G>T p.E137* Substitution - Nonsense 19:55678703-55678703 + SC_9081 COSM5551857 c.345C>T p.D115D Substitution - coding silent 19:55685512-55685512 + TCGA-AD-A5EJ-01 COSM1001604 c.552C>T p.H184H Substitution - coding silent 19:55678846-55678846 + NCI-H747 COSM4647082 c.348C>T p.G116G Substitution - coding silent 19:55685515-55685515 + BCM723T COSM4956513 c.773C>T p.A258V Substitution - Missense 19:55685607-55685607 + S0029 COSM5716542 c.1489C>T p.R497C Substitution - Missense 19:55693004-55693004 + TCGA-EE-A2MD-06 COSM3539495 c.1143C>T p.P381P Substitution - coding silent 19:55691876-55691876 + TCGA-AA-3492-01 COSM5097330 c.356G>A p.R119H Substitution - Missense 19:55678650-55678650 + TCGA-B5-A0JV-01 COSM1153439 c.162G>A p.S54S Substitution - coding silent 19:55678789-55678789 + TCGA-B5-A11E-01 COSM1590296 c.1230C>T p.L410L Substitution - coding silent 19:55693003-55693003 + TCGA-A6-5665-01 COSM5090015 c.910G>A p.A304T Substitution - Missense 19:55688968-55688968 + RK067_C01 COSM1631101 c.433G>A p.G145S Substitution - Missense 19:55678727-55678727 + HCC70 COSM1612867 c.772G>T p.A258S Substitution - Missense 19:55685606-55685606 + PCSI_0268_Pa_P_526 COSM1590294 c.1314G>A p.A438A Substitution - coding silent 19:55694775-55694775 + TCGA-BR-6802-01 COSM4081648 c.1149C>T p.G383G Substitution - coding silent 19:55691882-55691882 + J73_T COSM3960544 c.1672G>C p.E558Q Substitution - Missense 19:55694875-55694875 + QC2-39-T2 COSM5655870 c.57C>G p.V19V Substitution - coding silent 19:55677559-55677559 + pfg008T COSM4755778 c.299T>C p.M100T Substitution - Missense 19:55685466-55685466 + HCC70T COSM1612868 c.439G>T p.A147S Substitution - Missense 19:55685606-55685606 + ESCC_86 COSM4832783 c.1050C>T p.F350F Substitution - coding silent 19:55691783-55691783 + CHC892T COSM4959388 c.1587G>A p.G529G Substitution - coding silent 19:55694790-55694790 + TCGA-EE-A2MJ-06 COSM3539503 c.1882C>T p.P628S Substitution - Missense 19:55695249-55695249 + DN14067 COSM5963063 c.1091C>T p.S364L Substitution - Missense 19:55692710-55692710 + TCGA-A7-A13D-01 COSM1481552 c.600C>T p.D200D Substitution - coding silent 19:55688991-55688991 + STC252 COSM5056961 c.404G>A p.R135H Substitution - Missense 19:55685571-55685571 + 587338 COSM1205536 c.1481C>T p.T494M Substitution - Missense 19:55694942-55694942 + TCGA-22-1002-01 COSM1148242 c.805C>A p.P269T Substitution - Missense 19:55691796-55691796 + TCGA-AP-A059-01 COSM1590300 c.321G>T p.K107N Substitution - Missense 19:55685488-55685488 + 2492712 COSM5606526 c.884C>T p.P295L Substitution - Missense 19:55691875-55691875 + T3498 COSM4681403 c.1518C>T p.S506S Substitution - coding silent 19:55693033-55693033 + TCGA-CM-4746-01 COSM1396643 c.115C>A p.L39I Substitution - Missense 19:55678742-55678742 + BK0092 COSM4188829 c.539A>T p.K180M Substitution - Missense 19:55678833-55678833 + pfg413T COSM1396647 c.434C>T p.A145V Substitution - Missense 19:55685601-55685601 + TCGA-AP-A059-01 COSM1001601 c.178G>A p.A60T Substitution - Missense 19:55677680-55677680 + TCGA-EI-6882-01 COSM3423199 c.314C>T p.T105M Substitution - Missense 19:55685481-55685481 + T3262 COSM294353 c.1085delG p.G364fs*164 Deletion - Frameshift 19:55691818-55691818 + TCGA-AA-3663-01 COSM1396653 c.833G>C p.G278A Substitution - Missense 19:55691824-55691824 + TCGA-EE-A2MD-06 COSM3539496 c.885C>T p.P295P Substitution - coding silent 19:55691876-55691876 + SNU-C2B COSM4615300 c.1393delC p.T467fs*22 Deletion - Frameshift 19:55694854-55694854 + SNU-C2B COSM1001616 c.1780G>A p.G594R Substitution - Missense 19:55694983-55694983 + HCC70T COSM1612867 c.772G>T p.A258S Substitution - Missense 19:55685606-55685606 + TCGA-BT-A42B-01 COSM4390037 c.519G>A p.A173A Substitution - coding silent 19:55688910-55688910 + TCGA-BR-7703-01 COSM4081645 c.484T>C p.S162P Substitution - Missense 19:55688875-55688875 + TCGA-EE-A29L-06 COSM3539498 c.896C>T p.P299L Substitution - Missense 19:55691887-55691887 + TCGA-AA-3710-01 COSM5105106 c.100A>C p.S34R Substitution - Missense 19:55677602-55677602 + BCM723T COSM4956514 c.440C>T p.A147V Substitution - Missense 19:55685607-55685607 + SC_9081 COSM5551856 c.678C>T p.D226D Substitution - coding silent 19:55685512-55685512 + I2L-P19Ta-Tumor-Biopsy COSM5365001 c.279G>A p.S93S Substitution - coding silent 19:55685446-55685446 + TCGA-D1-A103-01 COSM1001609 c.1436-1G>T p.? Unknown 19:55692950-55692950 + TCGA-61-2611-02 COSM1326156 c.1426G>C p.G476R Substitution - Missense 19:55694887-55694887 + TCGA-IR-A3LH-01 COSM4832783 c.1050C>T p.F350F Substitution - coding silent 19:55691783-55691783 + CHC892T COSM4959388 c.1587G>A p.G529G Substitution - coding silent 19:55694790-55694790 + 587338 COSM1001615 c.1739C>T p.T580M Substitution - Missense 19:55694942-55694942 + CSCC-29-T COSM4467103 c.1470C>T p.F490F Substitution - coding silent 19:55692985-55692985 + TCGA-AA-3510-01 COSM1396646 c.767C>T p.A256V Substitution - Missense 19:55685601-55685601 + TCGA-AF-2690-01 COSM3423200 c.1961C>G p.A654G Substitution - Missense 19:55695328-55695328 + CSCC-40-T COSM4473932 c.1883C>T p.P628L Substitution - Missense 19:55695250-55695250 + TCGA-BH-A0B8-01 COSM3835843 c.1004G>A p.G335D Substitution - Missense 19:55691995-55691995 + TCGA-CK-4951-01 COSM5150440 c.1727G>A p.R576Q Substitution - Missense 19:55694930-55694930 + BCM723T COSM4956514 c.440C>T p.A147V Substitution - Missense 19:55685607-55685607 + TCGA-HU-A4H8-01 COSM4081650 c.1231G>A p.A411T Substitution - Missense 19:55691964-55691964 + TCGA-AU-6004-01 COSM1396665 c.1546G>A p.V516I Substitution - Missense 19:55695171-55695171 + TCGA-D1-A103-01 COSM1001611 c.1470C>A p.F490L Substitution - Missense 19:55692985-55692985 + 2492713 COSM5606526 c.884C>T p.P295L Substitution - Missense 19:55691875-55691875 + pfg119T COSM4755772 c.553G>A p.V185I Substitution - Missense 19:55678847-55678847 + PCSI_0015_Pa_P_526 COSM5031299 c.1325-1G>T p.? Unknown 19:55692685-55692685 + PD11748a COSM5793208 c.1086G>T p.W362C Substitution - Missense 19:55691819-55691819 + 03-P1004 COSM2969207 c.348C>G p.S116S Substitution - coding silent 19:55678642-55678642 + ACINAR01 COSM1735033 c.1484G>A p.R495Q Substitution - Missense 19:55692999-55692999 + LC_S12 COSM1190163 c.1697C>T p.A566V Substitution - Missense 19:55694900-55694900 + Au8 COSM5606526 c.884C>T p.P295L Substitution - Missense 19:55691875-55691875 + TCGA-D1-A103-01 COSM1001607 c.717G>T p.K239N Substitution - Missense 19:55685551-55685551 + BCM683T COSM4951051 c.1411A>G p.K471E Substitution - Missense 19:55692772-55692772 + TCGA-CK-4951-01 COSM5150442 c.1780+9G>A p.? Unknown 19:55694992-55694992 + TCGA-22-4613-01 COSM714601 c.1595G>T p.G532V Substitution - Missense 19:55694798-55694798 + COLO205 COSM2969208 c.15C>G p.S5S Substitution - coding silent 19:55678642-55678642 + TCGA-AA-3663-01 COSM1396652 c.1091G>C p.G364A Substitution - Missense 19:55691824-55691824 + TCGA-HU-A4H8-01 COSM4081651 c.973G>A p.A325T Substitution - Missense 19:55691964-55691964 + RKO COSM4614855 c.1932_1933insC p.M647fs*12 Insertion - Frameshift 19:55695299-55695300 + CSCC-11-T COSM4465600 c.1391C>T p.P464L Substitution - Missense 19:55692752-55692752 + 587256 COSM1205538 c.188G>A p.R63Q Substitution - Missense 19:55678815-55678815 + BCM683T COSM4951051 c.1411A>G p.K471E Substitution - Missense 19:55692772-55692772 + TCGA-CK-5913-01 COSM1396649 c.546_548delGGA p.E185delE Deletion - In frame 19:55688937-55688939 + 2492702 COSM5716542 c.1489C>T p.R497C Substitution - Missense 19:55693004-55693004 + CSCC-11-T COSM4465601 c.1133C>T p.P378L Substitution - Missense 19:55692752-55692752 + TCGA-AZ-4313-01 COSM294353 c.1085delG p.G364fs*164 Deletion - Frameshift 19:55691818-55691818 + CSCC-29-T COSM4567377 c.351_352GG>AC p.D118H Substitution - Missense 19:55685518-55685519 + CHC1055T COSM3668353 c.1820A>T p.Q607L Substitution - Missense 19:55695187-55695187 + TCGA-61-2611-02 COSM1326155 c.1684G>C p.G562R Substitution - Missense 19:55694887-55694887 + 06-P2007 COSM4581442 c.1342C>T p.L448L Substitution - coding silent 19:55694803-55694803 + CHC892T COSM4959389 c.1329G>A p.G443G Substitution - coding silent 19:55694790-55694790 + S02291 COSM5686998 c.1770C>T p.F590F Substitution - coding silent 19:55694973-55694973 + I2L-P19Ta-Tumor-Organoid COSM5365000 c.612G>A p.S204S Substitution - coding silent 19:55685446-55685446 + TCGA-D1-A103-01 COSM1590298 c.1178-1G>T p.? Unknown 19:55692950-55692950 + TCGA-G4-6311-01 COSM3693097 c.1076C>T p.P359L Substitution - Missense 19:55692695-55692695 + TCGA-BT-A42B-01 COSM4390036 c.852G>A p.A284A Substitution - coding silent 19:55688910-55688910 + 2492713 COSM5606525 c.1142C>T p.P381L Substitution - Missense 19:55691875-55691875 + TCGA-AP-A051-01 COSM1001613 c.1495G>A p.A499T Substitution - Missense 19:55693010-55693010 + 2492712 COSM5606525 c.1142C>T p.P381L Substitution - Missense 19:55691875-55691875 + TCGA-G4-6311-01 COSM3693096 c.1334C>T p.P445L Substitution - Missense 19:55692695-55692695 + TCGA-CK-4951-01 COSM5150438 c.1023G>A p.S341S Substitution - coding silent 19:55691756-55691756 + TCGA-BH-A0B8-01 COSM3835842 c.1262G>A p.G421D Substitution - Missense 19:55691995-55691995 + TCGA-EA-A410-01 COSM4828584 c.1668G>A p.T556T Substitution - coding silent 19:55694871-55694871 + TCGA-CM-5861-01 COSM1396667 c.1642T>C p.Y548H Substitution - Missense 19:55695267-55695267 + PCSI_0015_Pa_P_526 COSM5031300 c.1067-1G>T p.? Unknown 19:55692685-55692685 + ESCC_BICR_002T COSM4391000 c.344C>T p.S115L Substitution - Missense 19:55678638-55678638 + TCGA-60-2698-01 COSM714600 c.1796G>T p.G599V Substitution - Missense 19:55695163-55695163 + TCGA-AQ-A0Y5-01 COSM3835844 c.1391C>G p.P464R Substitution - Missense 19:55692752-55692752 + TCGA-EA-A410-01 COSM4828585 c.1410G>A p.T470T Substitution - coding silent 19:55694871-55694871 + T3498 COSM4681404 c.1260C>T p.S420S Substitution - coding silent 19:55693033-55693033 + NCI-H747 COSM4647081 c.681C>T p.G227G Substitution - coding silent 19:55685515-55685515 + TCGA-A6-5665-01 COSM1396654 c.1326T>C p.G442G Substitution - coding silent 19:55692687-55692687 + T3174 COSM4681401 c.1510G>A p.G504R Substitution - Missense 19:55693025-55693025 + TCGA-AY-6197-01 COSM1396650 c.969G>A p.R323R Substitution - coding silent 19:55689899-55689899 + KYSE-180 COSM2969236 c.632C>T p.A211V Substitution - Missense 19:55689325-55689325 + pfg008T COSM4755777 c.632T>C p.M211T Substitution - Missense 19:55685466-55685466 + COLO201 COSM2969207 c.348C>G p.S116S Substitution - coding silent 19:55678642-55678642 + TCGA-AA-3821-01 COSM294353 c.1085delG p.G364fs*164 Deletion - Frameshift 19:55691818-55691818 + LUAD-CHTN-MAD06-00668 COSM359376 c.601G>T p.E201* Substitution - Nonsense 19:55685435-55685435 + ESO-0280 COSM1251392 c.879G>A p.S293S Substitution - coding silent 19:55691870-55691870 + S0029 COSM5716543 c.1231C>T p.R411C Substitution - Missense 19:55693004-55693004 + Pat_24_A COSM5856828 c.215G>A p.R72H Substitution - Missense 19:55678842-55678842 + T3174 COSM4681402 c.1252G>A p.G418R Substitution - Missense 19:55693025-55693025 + 587256 COSM1205537 c.521G>A p.R174Q Substitution - Missense 19:55678815-55678815 + HCC32T COSM1612865 c.409G>T p.E137* Substitution - Nonsense 19:55678703-55678703 + TCGA-AC-A5XS-01 COSM4391000 c.344C>T p.S115L Substitution - Missense 19:55678638-55678638 + TCGA-AG-A026-01 COSM290464 c.1376C>T p.P459L Substitution - Missense 19:55692737-55692737 + TCGA-ER-A2NC-06 COSM3539499 c.1162C>T p.P388S Substitution - Missense 19:55691895-55691895 + ESO-0280 COSM1251391 c.1137G>A p.S379S Substitution - coding silent 19:55691870-55691870 + S00944 COSM5664132 c.978G>T p.M326I Substitution - Missense 19:55689908-55689908 + T3090 COSM4681399 c.1150G>A p.G384S Substitution - Missense 19:55691883-55691883 + BCM683T COSM4951052 c.1153A>G p.K385E Substitution - Missense 19:55692772-55692772 + S02291 COSM5686999 c.1512C>T p.F504F Substitution - coding silent 19:55694973-55694973 + 2293782 COSM4608794 c.245G>T p.C82F Substitution - Missense 19:55678539-55678539 + ME029T COSM226833 c.1549G>A p.V517M Substitution - Missense 19:55694752-55694752 + I2L-P19Ta-Tumor-Organoid COSM5365001 c.279G>A p.S93S Substitution - coding silent 19:55685446-55685446 + TCGA-E2-A14Y-01 COSM440378 c.1930C>T p.L644L Substitution - coding silent 19:55695297-55695297 + CHC1055T COSM3668354 c.1562A>T p.Q521L Substitution - Missense 19:55695187-55695187 + TCGA-BR-7703-01 COSM4081644 c.817T>C p.S273P Substitution - Missense 19:55688875-55688875 + 2492714 COSM5606526 c.884C>T p.P295L Substitution - Missense 19:55691875-55691875 + KYSE-180 COSM2969237 c.633C>T p.A211A Substitution - coding silent 19:55689326-55689326 + TCGA-AR-A2LE-01 COSM3835841 c.117C>A p.L39L Substitution - coding silent 19:55678744-55678744 + RMS77_ COSM4988333 c.872C>T p.P291L Substitution - Missense 19:55691863-55691863 + TCGA-D5-6535-01 COSM1396641 c.301G>A p.A101T Substitution - Missense 19:55678595-55678595 + I2L-P19Ta-Tumor-Organoid COSM4681401 c.1510G>A p.G504R Substitution - Missense 19:55693025-55693025 + TCGA-E2-A14Y-01 COSM1481553 c.1672C>T p.L558L Substitution - coding silent 19:55695297-55695297 + TCGA-AU-6004-01 COSM1396664 c.1804G>A p.V602I Substitution - Missense 19:55695171-55695171 + TCGA-B5-A11H-01 COSM1001617 c.1827G>A p.A609A Substitution - coding silent 19:55695194-55695194 + LC_S12 COSM1190164 c.1439C>T p.A480V Substitution - Missense 19:55694900-55694900 + TCGA-A6-5665-01 COSM1396644 c.673C>T p.R225C Substitution - Missense 19:55685507-55685507 + T407 COSM1153441 c.1197G>A p.T399T Substitution - coding silent 19:55692970-55692970 + DN14067 COSM5963062 c.1349C>T p.S450L Substitution - Missense 19:55692710-55692710 + TCGA-B5-A11E-01 COSM1001612 c.1488C>T p.L496L Substitution - coding silent 19:55693003-55693003 + CSCC-41-T COSM4487030 c.312C>T p.P104P Substitution - coding silent 19:55678606-55678606 + TCGA-ER-A2NC-06 COSM3539500 c.904C>T p.P302S Substitution - Missense 19:55691895-55691895 + TCGA-EE-A29L-06 COSM3539497 c.1154C>T p.P385L Substitution - Missense 19:55691887-55691887 + 19M COSM5578489 c.958C>T p.P320S Substitution - Missense 19:55691949-55691949 + 2492701 COSM5716542 c.1489C>T p.R497C Substitution - Missense 19:55693004-55693004 + Pat_24_A COSM5856827 c.548G>A p.R183H Substitution - Missense 19:55678842-55678842 + 2492701 COSM5716543 c.1231C>T p.R411C Substitution - Missense 19:55693004-55693004 + BD57T COSM5511123 c.1392C>A p.P464P Substitution - coding silent 19:55692753-55692753 + LOVO COSM2969221 c.704G>A p.R235H Substitution - Missense 19:55685538-55685538 + J73_T COSM3960545 c.1414G>C p.E472Q Substitution - Missense 19:55694875-55694875 + HCC32T COSM1612866 c.76G>T p.E26* Substitution - Nonsense 19:55678703-55678703 + TCGA-B5-A11H-01 COSM1590293 c.1569G>A p.A523A Substitution - coding silent 19:55695194-55695194 + CHC892T COSM4959389 c.1329G>A p.G443G Substitution - coding silent 19:55694790-55694790 + ESCC_BICR_002T COSM4391001 c.11C>T p.S4L Substitution - Missense 19:55678638-55678638 + TCGA-G4-6309-01 COSM1396660 c.1483C>A p.R495R Substitution - coding silent 19:55692998-55692998 + TCGA-D1-A167-01 COSM1001605 c.640G>A p.V214M Substitution - Missense 19:55685474-55685474 + TCGA-A5-A0VP-01 COSM1001608 c.627C>T p.D209D Substitution - coding silent 19:55689320-55689320 + TCGA-B5-A0JV-01 COSM1153442 c.1522G>A p.G508R Substitution - Missense 19:55694983-55694983 + TCGA-G4-6309-01 COSM1396661 c.1225C>A p.R409R Substitution - coding silent 19:55692998-55692998 + Pat_51_A COSM5856825 c.466_490del25 p.D156fs*5 Deletion - Frameshift 19:55678760-55678784 + SNU-C2B COSM1153442 c.1522G>A p.G508R Substitution - Missense 19:55694983-55694983 + CHC1055T COSM3668353 c.1820A>T p.Q607L Substitution - Missense 19:55695187-55695187 + 03-P1004 COSM2969208 c.15C>G p.S5S Substitution - coding silent 19:55678642-55678642 + PD11748a COSM5793209 c.828G>T p.W276C Substitution - Missense 19:55691819-55691819 + Gp5D COSM2969204 c.284T>C p.I95T Substitution - Missense 19:55678578-55678578 + TCGA-AP-A059-01 COSM1001606 c.654G>T p.K218N Substitution - Missense 19:55685488-55685488 + LOVO COSM2969222 c.371G>A p.R124H Substitution - Missense 19:55685538-55685538 + T3262 COSM4681398 c.827delG p.G278fs*164 Deletion - Frameshift 19:55691818-55691818 + TCGA-D1-A17B-01 COSM1590292 c.1701G>A p.P567P Substitution - coding silent 19:55695326-55695326 + 2492700 COSM5716542 c.1489C>T p.R497C Substitution - Missense 19:55693004-55693004 + S00944 COSM5664133 c.720G>T p.M240I Substitution - Missense 19:55689908-55689908 + BD102T COSM5490705 c.48-7C>T p.? Unknown 19:55677543-55677543 + 2492711 COSM5606525 c.1142C>T p.P381L Substitution - Missense 19:55691875-55691875 + TCGA-BG-A0LX-01 COSM1205536 c.1481C>T p.T494M Substitution - Missense 19:55694942-55694942 + RMS77_ COSM4988332 c.1130C>T p.P377L Substitution - Missense 19:55691863-55691863 + TCGA-BR-6802-01 COSM4081649 c.891C>T p.G297G Substitution - coding silent 19:55691882-55691882 + STC252 COSM5056960 c.737G>A p.R246H Substitution - Missense 19:55685571-55685571 + TCGA-AR-A2LE-01 COSM3835840 c.450C>A p.L150L Substitution - coding silent 19:55678744-55678744 + 19M COSM5578488 c.1216C>T p.P406S Substitution - Missense 19:55691949-55691949 + TCGA-CJ-6028-01 COSM475312 c.1406C>G p.P469R Substitution - Missense 19:55692767-55692767 + CSCC-29-T COSM4567376 c.684_685GG>AC p.D229H Substitution - Missense 19:55685518-55685519 + TCGA-D1-A0ZQ-01 COSM1153440 c.219C>T p.H73H Substitution - coding silent 19:55678846-55678846 + TCGA-AA-3511-01 COSM1396656 c.1329G>A p.G443G Substitution - coding silent 19:55692690-55692690 + TCGA-A6-5665-01 COSM1396645 c.340C>T p.R114C Substitution - Missense 19:55685507-55685507 + HCC70 COSM1612868 c.439G>T p.A147S Substitution - Missense 19:55685606-55685606 + pfg413T COSM1396646 c.767C>T p.A256V Substitution - Missense 19:55685601-55685601 + TCGA-ER-A19F-06 COSM3539502 c.1340C>T p.S447F Substitution - Missense 19:55694801-55694801 + CHC1055T COSM3668354 c.1562A>T p.Q521L Substitution - Missense 19:55695187-55695187 + BCM683T COSM4951052 c.1153A>G p.K385E Substitution - Missense 19:55692772-55692772 + TCGA-AF-2690-01 COSM3423201 c.1703C>G p.A568G Substitution - Missense 19:55695328-55695328 + 2492703 COSM5716543 c.1231C>T p.R411C Substitution - Missense 19:55693004-55693004 + I2L-P19Ta-Tumor-Biopsy COSM4681401 c.1510G>A p.G504R Substitution - Missense 19:55693025-55693025 + SNU-C2B COSM4615299 c.1651delC p.T553fs*22 Deletion - Frameshift 19:55694854-55694854 + Au8 COSM5606525 c.1142C>T p.P381L Substitution - Missense 19:55691875-55691875 + TCGA-AY-6197-01 COSM1396651 c.711G>A p.R237R Substitution - coding silent 19:55689899-55689899 + TCGA-EI-6507-01 COSM5077939 c.1933delC p.M647fs*1 Deletion - Frameshift 19:55695300-55695300 + CSCC-6-T COSM4474700 c.1937C>T p.P646L Substitution - Missense 19:55695304-55695304 + I2L-P19Ta-Tumor-Organoid COSM4681402 c.1252G>A p.G418R Substitution - Missense 19:55693025-55693025 + BK0092 COSM4188830 c.206A>T p.K69M Substitution - Missense 19:55678833-55678833 + TCGA-CK-4951-01 COSM5150444 c.1899G>A p.T633T Substitution - coding silent 19:55695266-55695266 + TCGA-AM-5820-01 COSM3693095 c.191C>T p.T64M Substitution - Missense 19:55677693-55677693 + pfg119T COSM4755773 c.220G>A p.V74I Substitution - Missense 19:55678847-55678847 + RK067_C01 COSM1631102 c.100G>A p.G34S Substitution - Missense 19:55678727-55678727 + T10 COSM5343457 c.40G>A p.V14I Substitution - Missense 19:55678667-55678667 + TCGA-D1-A167-01 COSM1590301 c.307G>A p.V103M Substitution - Missense 19:55685474-55685474 + CSCC-6-T COSM4474701 c.1679C>T p.P560L Substitution - Missense 19:55695304-55695304 + TCGA-EW-A1J5-01 COSM1481551 c.202C>G p.L68V Substitution - Missense 19:55677704-55677704 + I2L-P19Ta-Tumor-Biopsy COSM5365000 c.612G>A p.S204S Substitution - coding silent 19:55685446-55685446 + T3091 COSM4681397 c.439G>A p.A147T Substitution - Missense 19:55685606-55685606 + TCGA-BG-A0LX-01 COSM1001615 c.1739C>T p.T580M Substitution - Missense 19:55694942-55694942 + 06-P2007 COSM4581441 c.1600C>T p.L534L Substitution - coding silent 19:55694803-55694803 + TCGA-A7-A13D-01 COSM440377 c.933C>T p.D311D Substitution - coding silent 19:55688991-55688991 + PT35 COSM5914079 c.898C>T p.P300S Substitution - Missense 19:55691889-55691889 + TCGA-D1-A177-01 COSM1153441 c.1197G>A p.T399T Substitution - coding silent 19:55692970-55692970 + S00501 COSM5658342 c.461T>C p.L154P Substitution - Missense 19:55685628-55685628 + 2367115 COSM4997304 c.1286G>T p.G429V Substitution - Missense 19:55692019-55692019 + T3446 COSM4681405 c.1559G>A p.R520Q Substitution - Missense 19:55694762-55694762 + TCGA-BR-6452-01 COSM4081646 c.1114G>A p.V372I Substitution - Missense 19:55691847-55691847 + PT35 COSM5914078 c.1156C>T p.P386S Substitution - Missense 19:55691889-55691889 + TCGA-D1-A103-01 COSM1590299 c.384G>T p.K128N Substitution - Missense 19:55685551-55685551 + S00501 COSM5658341 c.794T>C p.L265P Substitution - Missense 19:55685628-55685628 + TCGA-AC-A5XS-01 COSM4391001 c.11C>T p.S4L Substitution - Missense 19:55678638-55678638 + S00938 COSM5663361 c.274G>A p.V92M Substitution - Missense 19:55685441-55685441 + T3091 COSM4681396 c.772G>A p.A258T Substitution - Missense 19:55685606-55685606 + CSCC-40-T COSM4473933 c.1625C>T p.P542L Substitution - Missense 19:55695250-55695250 + T10 COSM5343456 c.373G>A p.V125I Substitution - Missense 19:55678667-55678667 + TCGA-CJ-6028-01 COSM1136253 c.1148C>G p.P383R Substitution - Missense 19:55692767-55692767 + TCGA-B5-A11E-01 COSM1590294 c.1314G>A p.A438A Substitution - coding silent 19:55694775-55694775 + CSCC-29-T COSM4467104 c.1212C>T p.F404F Substitution - coding silent 19:55692985-55692985 + 2492711 COSM5606526 c.884C>T p.P295L Substitution - Missense 19:55691875-55691875 + TCGA-B5-A11E-01 COSM1001614 c.1572G>A p.A524A Substitution - coding silent 19:55694775-55694775 + TCGA-AP-A051-01 COSM1590295 c.1237G>A p.A413T Substitution - Missense 19:55693010-55693010 + T3446 COSM4681406 c.1301G>A p.R434Q Substitution - Missense 19:55694762-55694762 + CSCC-16-T COSM4515394 c.824_825CC>TT p.P275L Substitution - Missense 19:55691815-55691816 + ESCC_86 COSM4832784 c.792C>T p.F264F Substitution - coding silent 19:55691783-55691783 + PCSI_0268_Pa_P_526 COSM1001614 c.1572G>A p.A524A Substitution - coding silent 19:55694775-55694775 + TCGA-EI-6882-01 COSM3423198 c.647C>T p.T216M Substitution - Missense 19:55685481-55685481 + TCGA-22-1002-01 COSM714602 c.1063C>A p.P355T Substitution - Missense 19:55691796-55691796 + TCGA-AQ-A0Y5-01 COSM3835845 c.1133C>G p.P378R Substitution - Missense 19:55692752-55692752 + TCGA-CM-4746-01 COSM1396642 c.448C>A p.L150I Substitution - Missense 19:55678742-55678742 + 2492700 COSM5716543 c.1231C>T p.R411C Substitution - Missense 19:55693004-55693004 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.279953 19q13.42 607262

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer C A Missense p.F490L c.1470C>A 19 56204351 HNSC C A Missense p.P355T c.1063C>A 19 56203162 LUSC CC AT Missense p.R620C c.1857_1858delinsAT 19 56206590 CM C - Frameshift p.P653Rfs*34 c.1958delC 19 56206686 HNSC C G Missense p.P469R c.1406C>G 19 56204133 RCCC C G Missense p.S379W c.1136C>G 19 56203235 LUAD C T IntronicSNV . c.936+326C>T 19 56200686 UCEC C T Missense p.P385L c.1154C>T 19 56203253 CM C T Missense p.P386L c.1157C>T 19 56203256 HNSC C T Missense p.P388S c.1162C>T 19 56203261 CM C T Missense p.P459L c.1376C>T 19 56204103 COREAD C T Missense p.P628S c.1882C>T 19 56206615 CM C T Missense p.S533F c.1598C>T 19 56206167 CM C T Missense p.T580M c.1739C>T 19 56206308 UCEC C T Synonymous p.A101A c.303C>T 19 56189963 CM C T Synonymous p.D311D c.933C>T 19 56200357 BRCA C T Synonymous p.G231G c.693C>T 19 56196893 LUAD C T Synonymous p.G383G c.1149C>T 19 56203248 STAD C T Synonymous p.H184H c.552C>T 19 56190212 UCEC C T Synonymous p.P381P c.1143C>T 19 56203242 CM C T Synonymous p.P385P c.1155C>T 19 56203254 HNSC G A Missense p.G145S c.433G>A 19 56190093 HC G A Missense p.G594R c.1780G>A 19 56206349 UCEC G A Synonymous p.A609A c.1827G>A 19 56206560 UCEC G A Synonymous p.P653P c.1959G>A 19 56206692 UCEC G A Synonymous p.S379S c.1137G>A 19 56203236 ESCA G A Synonymous p.T485T c.1455G>A 19 56204336 UCEC G C Missense p.D492H c.1474G>C 19 56204355 HNSC G C SpliceAcceptorSNV . c.1781-1G>C 19 56206513 LUAD - G Frameshift p.A366Sfs*27 c.1091dupG 19 56203184 LUAD G T Missense p.G532V c.1595G>T 19 56206164 LUSC G T Missense p.G599C c.1795G>T 19 56206528 LUAD G T Missense p.R531S c.1593G>T 19 56206162 LUAD T G Missense p.F493L c.1479T>G 19 56204360 LUAD