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 22 32875190 32875190 + Missense_Mutation SNP G G A TCGA-OR-A5JC-01A-11D-A29I-10 TCGA-OR-A5JC-10A-01D-A29L-10 g.chr22:32875190G>A c.345G>A c.(343-345)atG>atA p.M115I ACC 22 32881102 32881102 + Silent SNP C C T TCGA-OR-A5KX-01A-11D-A29I-10 TCGA-OR-A5KX-10A-01D-A29L-10 g.chr22:32881102C>T c.693C>T c.(691-693)agC>agT p.S231S BLCA 22 32871363 32871363 + Intron SNP C C G TCGA-DK-AA71-01A-31D-A391-08 TCGA-DK-AA71-10A-01D-A394-08 g.chr22:32871363C>G BLCA 22 32874970 32874970 + Missense_Mutation SNP C C T TCGA-XF-A9SI-01A-11D-A391-08 TCGA-XF-A9SI-10A-01D-A394-08 g.chr22:32874970C>T c.125C>T c.(124-126)tCt>tTt p.S42F BLCA 22 32879976 32879976 + Silent SNP C C T TCGA-4Z-AA81-01A-11D-A391-08 TCGA-4Z-AA81-10A-01D-A394-08 g.chr22:32879976C>T c.510C>T c.(508-510)ctC>ctT p.L170L BLCA 22 32880011 32880011 + Missense_Mutation SNP C C T TCGA-DK-AA77-01A-11D-A391-08 TCGA-DK-AA77-10A-01D-A394-08 g.chr22:32880011C>T c.545C>T c.(544-546)tCa>tTa p.S182L BLCA 22 32889255 32889255 + Silent SNP G G A TCGA-BL-A0C8-01A-11D-A10S-08 TCGA-BL-A0C8-10A-01D-A10S-08 g.chr22:32889255G>A c.1131G>A c.(1129-1131)ctG>ctA p.L377L BRCA 22 32881084 32881084 + Silent SNP G G A TCGA-B6-A0I9-01A-11W-A050-09 TCGA-B6-A0I9-10A-01W-A055-09 g.chr22:32881084G>A c.675G>A c.(673-675)ccG>ccA p.P225P BRCA 22 32887130 32887130 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr22:32887130A>C c.929A>C c.(928-930)gAc>gCc p.D310A BRCA 22 32889121 32889121 + Missense_Mutation SNP G G C TCGA-D8-A1XR-01A-11D-A14K-09 TCGA-D8-A1XR-10A-01D-A14K-09 g.chr22:32889121G>C c.997G>C c.(997-999)Gtc>Ctc p.V333L BRCA 22 32889166 32889166 + Missense_Mutation SNP G G T TCGA-AR-A24T-01A-11D-A167-09 TCGA-AR-A24T-10A-01D-A167-09 g.chr22:32889166G>T c.1042G>T c.(1042-1044)Gat>Tat p.D348Y BRCA 22 32891506 32891506 + Missense_Mutation SNP G G C TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 g.chr22:32891506G>C c.1171G>C c.(1171-1173)Gat>Cat p.D391H BRCA 22 32894237 32894237 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr22:32894237A>C c.1289A>C c.(1288-1290)cAc>cCc p.H430P COAD 22 32879987 32879987 + Missense_Mutation SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr22:32879987C>T c.521C>T c.(520-522)tCg>tTg p.S174L COAD 22 32880054 32880054 + Silent SNP T T C TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr22:32880054T>C c.588T>C c.(586-588)aaT>aaC p.N196N COAD 22 32881058 32881058 + Missense_Mutation SNP A A G TCGA-D5-5540-01A-01D-1650-10 TCGA-D5-5540-10A-01D-1650-10 g.chr22:32881058A>G c.649A>G c.(649-651)Acc>Gcc p.T217A COAD 22 32881061 32881061 + Missense_Mutation SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr22:32881061G>A c.652G>A c.(652-654)Gaa>Aaa p.E218K COAD 22 32881122 32881122 + Missense_Mutation SNP A A T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr22:32881122A>T c.713A>T c.(712-714)tAc>tTc p.Y238F COAD 22 32883792 32883792 + Missense_Mutation SNP C C A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr22:32883792C>A c.848C>A c.(847-849)tCt>tAt p.S283Y COAD 22 32889242 32889242 + Missense_Mutation SNP G G A TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr22:32889242G>A c.1118G>A c.(1117-1119)aGg>aAg p.R373K COADREAD 22 32875253 32875253 + Silent SNP C C T TCGA-AG-3893-01A-01W-1073-09 TCGA-AG-3893-10A-01W-1073-09 g.chr22:32875253C>T c.408C>T c.(406-408)gaC>gaT p.D136D COADREAD 22 32879987 32879987 + Missense_Mutation SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr22:32879987C>T c.521C>T c.(520-522)tCg>tTg p.S174L COADREAD 22 32880054 32880054 + Silent SNP T T C TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr22:32880054T>C c.588T>C c.(586-588)aaT>aaC p.N196N COADREAD 22 32881058 32881058 + Missense_Mutation SNP A A G TCGA-D5-5540-01A-01D-1650-10 TCGA-D5-5540-10A-01D-1650-10 g.chr22:32881058A>G c.649A>G c.(649-651)Acc>Gcc p.T217A COADREAD 22 32881061 32881061 + Missense_Mutation SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr22:32881061G>A c.652G>A c.(652-654)Gaa>Aaa p.E218K COADREAD 22 32881122 32881122 + Missense_Mutation SNP A A T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr22:32881122A>T c.713A>T c.(712-714)tAc>tTc p.Y238F COADREAD 22 32883792 32883792 + Missense_Mutation SNP C C A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr22:32883792C>A c.848C>A c.(847-849)tCt>tAt p.S283Y COADREAD 22 32889242 32889242 + Missense_Mutation SNP G G A TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr22:32889242G>A c.1118G>A c.(1117-1119)aGg>aAg p.R373K COADREAD 22 32894280 32894280 + Silent SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr22:32894280C>T c.1332C>T c.(1330-1332)atC>atT p.I444I ESCA 22 32875073 32875073 + Missense_Mutation SNP G G T TCGA-L5-A88S-01A-11D-A36J-09 TCGA-L5-A88S-11A-21D-A36M-09 g.chr22:32875073G>T c.228G>T c.(226-228)ttG>ttT p.L76F ESCA 22 32881117 32881117 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr22:32881117G>A c.708G>A c.(706-708)ctG>ctA p.L236L ESCA 22 32889257 32889257 + Missense_Mutation SNP G G C TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 g.chr22:32889257G>C c.1133G>C c.(1132-1134)cGt>cCt p.R378P ESCA 22 32889259 32889259 + Missense_Mutation SNP G G A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 g.chr22:32889259G>A c.1135G>A c.(1135-1137)Gat>Aat p.D379N GBM 22 32887162 32887162 + Nonsense_Mutation SNP C C T TCGA-06-0169-01A-01D-1490-08 TCGA-06-0169-10A-01D-1490-08 g.chr22:32887162C>T c.961C>T c.(961-963)Cga>Tga p.R321* GBMLGG 22 32875191 32875191 + Nonsense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr22:32875191C>T c.346C>T c.(346-348)Cag>Tag p.Q116* GBMLGG 22 32879927 32879927 + Missense_Mutation SNP A A G TCGA-CS-4943-01A-01D-1468-08 TCGA-CS-4943-10A-01D-1468-08 g.chr22:32879927A>G c.461A>G c.(460-462)aAt>aGt p.N154S GBMLGG 22 32887162 32887162 + Nonsense_Mutation SNP C C T TCGA-06-0169-01A-01D-1490-08 TCGA-06-0169-10A-01D-1490-08 g.chr22:32887162C>T c.961C>T c.(961-963)Cga>Tga p.R321* HNSC 22 32881150 32881150 + Silent SNP C C T TCGA-IQ-A61E-01A-22D-A30E-08 TCGA-IQ-A61E-10A-01D-A30H-08 g.chr22:32881150C>T c.741C>T c.(739-741)tcC>tcT p.S247S HNSC 22 32889106 32889106 + Missense_Mutation SNP G G A TCGA-T2-A6X2-01A-12D-A34J-08 TCGA-T2-A6X2-10B-01D-A34M-08 g.chr22:32889106G>A c.982G>A c.(982-984)Gat>Aat p.D328N HNSC 22 32889111 32889111 + Silent SNP A A G TCGA-DQ-7588-01A-11D-2078-08 TCGA-DQ-7588-10B-01D-2078-08 g.chr22:32889111A>G c.987A>G c.(985-987)gtA>gtG p.V329V HNSC 22 32889195 32889195 + Silent SNP G G C TCGA-CN-4727-01A-01D-1434-08 TCGA-CN-4727-10A-01D-1434-08 g.chr22:32889195G>C c.1071G>C c.(1069-1071)gcG>gcC p.A357A HNSC 22 32894169 32894169 + Silent SNP G G A TCGA-CN-6992-01A-11D-1912-08 TCGA-CN-6992-10A-01D-1912-08 g.chr22:32894169G>A c.1221G>A c.(1219-1221)ccG>ccA p.P407P HNSC 22 32894221 32894221 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr22:32894221T>C c.1273T>C c.(1273-1275)Tat>Cat p.Y425H HNSC 22 32894327 32894327 + Missense_Mutation SNP C C A TCGA-BA-4076-01A-01D-1434-08 TCGA-BA-4076-10A-01D-1434-08 g.chr22:32894327C>A c.1379C>A c.(1378-1380)cCa>cAa p.P460Q HNSC 22 32894343 32894343 + Silent SNP T T A TCGA-CV-A468-01A-11D-A25Y-08 TCGA-CV-A468-10A-01D-A25Y-08 g.chr22:32894343T>A c.1395T>A c.(1393-1395)atT>atA p.I465I KIPAN 22 32875201 32875201 + Missense_Mutation SNP A A C TCGA-B0-4823-01A-02D-1421-08 TCGA-B0-4823-11A-01D-1421-08 g.chr22:32875201A>C c.356A>C c.(355-357)cAa>cCa p.Q119P KIPAN 22 32889131 32889131 + Missense_Mutation SNP C C A TCGA-DW-5560-01A-01D-1589-08 TCGA-DW-5560-10A-01D-1589-08 g.chr22:32889131C>A c.1007C>A c.(1006-1008)cCa>cAa p.P336Q KIPAN 22 32894289 32894290 + Frame_Shift_Del DEL AT AT - TCGA-B0-4841-01A-01D-1361-10 TCGA-B0-4841-11A-01D-1361-10 g.chr22:32894289_32894290delAT c.1341_1342delAT c.(1339-1344)gaatatfs p.Y448fs KIRC 22 32875201 32875201 + Missense_Mutation SNP A A C TCGA-B0-4823-01A-02D-1421-08 TCGA-B0-4823-11A-01D-1421-08 g.chr22:32875201A>C c.356A>C c.(355-357)cAa>cCa p.Q119P KIRC 22 32894289 32894290 + Frame_Shift_Del DEL AT AT - TCGA-B0-4841-01A-01D-1361-10 TCGA-B0-4841-11A-01D-1361-10 g.chr22:32894289_32894290delAT c.1341_1342delAT c.(1339-1344)gaatatfs p.Y448fs KIRP 22 32889131 32889131 + Missense_Mutation SNP C C A TCGA-DW-5560-01A-01D-1589-08 TCGA-DW-5560-10A-01D-1589-08 g.chr22:32889131C>A c.1007C>A c.(1006-1008)cCa>cAa p.P336Q LGG 22 32875191 32875191 + Nonsense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr22:32875191C>T c.346C>T c.(346-348)Cag>Tag p.Q116* LGG 22 32879927 32879927 + Missense_Mutation SNP A A G TCGA-CS-4943-01A-01D-1468-08 TCGA-CS-4943-10A-01D-1468-08 g.chr22:32879927A>G c.461A>G c.(460-462)aAt>aGt p.N154S LIHC 22 32871071 32871071 + Missense_Mutation SNP T T C TCGA-G3-A3CJ-01A-11D-A20W-10 TCGA-G3-A3CJ-10A-01D-A20W-10 g.chr22:32871071T>C c.82T>C c.(82-84)Tcg>Ccg p.S28P LIHC 22 32881139 32881139 + Missense_Mutation SNP G G C TCGA-UB-A7ME-01A-11D-A33K-10 TCGA-UB-A7ME-10A-01D-A33K-10 g.chr22:32881139G>C c.730G>C c.(730-732)Gag>Cag p.E244Q LIHC 22 32887083 32887083 + Silent SNP A A G TCGA-G3-A3CJ-01A-11D-A20W-10 TCGA-G3-A3CJ-10A-01D-A20W-10 g.chr22:32887083A>G c.882A>G c.(880-882)gtA>gtG p.V294V LUAD 22 32875128 32875128 + Missense_Mutation SNP C C T TCGA-69-7974-01A-11D-2184-08 TCGA-69-7974-10A-01D-2184-08 g.chr22:32875128C>T c.283C>T c.(283-285)Cat>Tat p.H95Y LUAD 22 32889156 32889156 + Missense_Mutation SNP C C A TCGA-86-A456-01A-11D-A24D-08 TCGA-86-A456-10A-01D-A24F-08 g.chr22:32889156C>A c.1032C>A c.(1030-1032)ttC>ttA p.F344L LUAD 22 32889176 32889176 + Missense_Mutation SNP C C G TCGA-55-6972-01A-11D-1945-08 TCGA-55-6972-11A-01D-1945-08 g.chr22:32889176C>G c.1052C>G c.(1051-1053)tCc>tGc p.S351C LUAD 22 32894161 32894161 + Missense_Mutation SNP G G A TCGA-55-8089-01A-11D-2238-08 TCGA-55-8089-10A-01D-2238-08 g.chr22:32894161G>A c.1213G>A c.(1213-1215)Gaa>Aaa p.E405K LUAD 22 32894433 32894433 + Missense_Mutation SNP G G T TCGA-MN-A4N1-01A-11D-A24P-08 TCGA-MN-A4N1-10A-01D-A24P-08 g.chr22:32894433G>T c.1485G>T c.(1483-1485)ttG>ttT p.L495F LUSC 22 32889094 32889094 + Missense_Mutation SNP C C G TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 g.chr22:32889094C>G c.970C>G c.(970-972)Ctg>Gtg p.L324V LUSC 22 32894464 32894464 + Missense_Mutation SNP C C T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr22:32894464C>T c.1516C>T c.(1516-1518)Ccc>Tcc p.P506S OV 22 32875251 32875251 + Missense_Mutation SNP G G T TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 g.chr22:32875251G>T c.406G>T c.(406-408)Gac>Tac p.D136Y OV 22 32881059 32881059 + Missense_Mutation SNP C C T TCGA-24-1469-01A-01W-0553-09 TCGA-24-1469-10A-01W-0553-09 g.chr22:32881059C>T c.650C>T c.(649-651)aCc>aTc p.T217I PAAD 22 32875113 32875113 + Missense_Mutation SNP T T C TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr22:32875113T>C c.268T>C c.(268-270)Tcc>Ccc p.S90P PAAD 22 32875119 32875119 + Missense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr22:32875119G>T c.274G>T c.(274-276)Gat>Tat p.D92Y PAAD 22 32894260 32894260 + Missense_Mutation SNP C C A TCGA-YB-A89D-01A-12D-A36O-08 TCGA-YB-A89D-10A-01D-A367-08 g.chr22:32894260C>A c.1312C>A c.(1312-1314)Cgc>Agc p.R438S PAAD 22 32894330 32894330 + Missense_Mutation SNP T T C TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr22:32894330T>C c.1382T>C c.(1381-1383)aTc>aCc p.I461T READ 22 32875253 32875253 + Silent SNP C C T TCGA-AG-3893-01A-01W-1073-09 TCGA-AG-3893-10A-01W-1073-09 g.chr22:32875253C>T c.408C>T c.(406-408)gaC>gaT p.D136D READ 22 32894280 32894280 + Silent SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr22:32894280C>T c.1332C>T c.(1330-1332)atC>atT p.I444I SKCM 22 32875101 32875101 + Missense_Mutation SNP A A G TCGA-EE-A2A2-06A-11D-A196-08 TCGA-EE-A2A2-10A-01D-A198-08 g.chr22:32875101A>G c.256A>G c.(256-258)Aat>Gat p.N86D SKCM 22 32880020 32880020 + Missense_Mutation SNP C C T TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr22:32880020C>T c.554C>T c.(553-555)aCc>aTc p.T185I SKCM 22 32887122 32887122 + Silent SNP C C G TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 g.chr22:32887122C>G c.921C>G c.(919-921)ctC>ctG p.L307L SKCM 22 32889265 32889265 + Nonsense_Mutation SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr22:32889265C>T c.1141C>T c.(1141-1143)Cga>Tga p.R381* SKCM 22 32894166 32894166 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 g.chr22:32894166C>T c.1218C>T c.(1216-1218)tcC>tcT p.S406S SKCM 22 32894240 32894240 + Missense_Mutation SNP C C G TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr22:32894240C>G c.1292C>G c.(1291-1293)cCt>cGt p.P431R SKCM 22 32894359 32894359 + Missense_Mutation SNP A A G TCGA-EE-A3J5-06A-11D-A20D-08 TCGA-EE-A3J5-10A-01D-A20D-08 g.chr22:32894359A>G c.1411A>G c.(1411-1413)Acg>Gcg p.T471A SKCM 22 32894465 32894465 + Missense_Mutation SNP C C T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 g.chr22:32894465C>T c.1517C>T c.(1516-1518)cCc>cTc p.P506L

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 22 32879920 32879920 single base substitution C G 3_prime_UTR_variant BLCA-CN 22 32879920 32879920 single base substitution C G downstream_gene_variant BLCA-CN 22 32879920 32879920 single base substitution C G exon_variant BLCA-CN 22 32879920 32879920 single base substitution C G missense_variant Q152E 454C>G BLCA-CN 22 32879920 32879920 single base substitution C G missense_variant Q38E 112C>G BLCA-CN 22 32879920 32879920 single base substitution C G missense_variant Q73E 217C>G BLCA-CN 22 32879920 32879920 single base substitution C G upstream_gene_variant BLCA-CN 22 32879992 32879992 single base substitution G A 3_prime_UTR_variant BLCA-CN 22 32879992 32879992 single base substitution G A downstream_gene_variant BLCA-CN 22 32879992 32879992 single base substitution G A exon_variant BLCA-CN 22 32879992 32879992 single base substitution G A missense_variant E176K 526G>A BLCA-CN 22 32879992 32879992 single base substitution G A missense_variant E62K 184G>A BLCA-CN 22 32879992 32879992 single base substitution G A missense_variant E97K 289G>A BLCA-CN 22 32879992 32879992 single base substitution G A upstream_gene_variant BLCA-CN 22 32889123 32889123 single base substitution C T 3_prime_UTR_variant BLCA-CN 22 32889123 32889123 single base substitution C T downstream_gene_variant BLCA-CN 22 32889123 32889123 single base substitution C T exon_variant BLCA-CN 22 32889123 32889123 single base substitution C T synonymous_variant V219V 657C>T BLCA-CN 22 32889123 32889123 single base substitution C T synonymous_variant V254V 762C>T BLCA-CN 22 32889123 32889123 single base substitution C T synonymous_variant V333V 999C>T BLCA-US 22 32889255 32889255 single base substitution G A 3_prime_UTR_variant BLCA-US 22 32889255 32889255 single base substitution G A downstream_gene_variant BLCA-US 22 32889255 32889255 single base substitution G A exon_variant BLCA-US 22 32889255 32889255 single base substitution G A synonymous_variant L263L 789G>A BLCA-US 22 32889255 32889255 single base substitution G A synonymous_variant L298L 894G>A BLCA-US 22 32889255 32889255 single base substitution G A synonymous_variant L377L 1131G>A BOCA-FR 22 32898471 32898471 single base substitution T A downstream_gene_variant BRCA-EU 22 32865806 32865806 single base substitution A G upstream_gene_variant BRCA-EU 22 32866987 32866987 single base substitution C G upstream_gene_variant BRCA-EU 22 32867009 32867009 single base substitution C G upstream_gene_variant BRCA-EU 22 32867117 32867117 single base substitution C A upstream_gene_variant BRCA-EU 22 32867373 32867373 deletion of <=200bp T - upstream_gene_variant BRCA-EU 22 32870084 32870084 single base substitution C G upstream_gene_variant BRCA-EU 22 32872459 32872459 single base substitution C G intron_variant BRCA-EU 22 32872459 32872459 single base substitution C G upstream_gene_variant BRCA-EU 22 32872954 32872954 single base substitution G A intron_variant BRCA-EU 22 32872954 32872954 single base substitution G A upstream_gene_variant BRCA-EU 22 32873545 32873545 single base substitution G A intron_variant BRCA-EU 22 32873545 32873545 single base substitution G A upstream_gene_variant BRCA-EU 22 32876623 32876623 single base substitution T C downstream_gene_variant BRCA-EU 22 32876623 32876623 single base substitution T C intron_variant BRCA-EU 22 32876839 32876839 single base substitution G T downstream_gene_variant BRCA-EU 22 32876839 32876839 single base substitution G T intron_variant BRCA-EU 22 32877621 32877621 single base substitution C T downstream_gene_variant BRCA-EU 22 32877621 32877621 single base substitution C T intron_variant BRCA-EU 22 32880106 32880106 single base substitution C T 3_prime_UTR_variant BRCA-EU 22 32880106 32880106 single base substitution C T downstream_gene_variant BRCA-EU 22 32880106 32880106 single base substitution C T exon_variant BRCA-EU 22 32880106 32880106 single base substitution C T missense_variant P100S 298C>T BRCA-EU 22 32880106 32880106 single base substitution C T missense_variant P135S 403C>T BRCA-EU 22 32880106 32880106 single base substitution C T missense_variant P214S 640C>T BRCA-EU 22 32880106 32880106 single base substitution C T upstream_gene_variant BRCA-EU 22 32881215 32881215 single base substitution C G downstream_gene_variant BRCA-EU 22 32881215 32881215 single base substitution C G intron_variant BRCA-EU 22 32881215 32881215 single base substitution C G upstream_gene_variant BRCA-EU 22 32881984 32881984 single base substitution C T downstream_gene_variant BRCA-EU 22 32881984 32881984 single base substitution C T intron_variant BRCA-EU 22 32881984 32881984 single base substitution C T upstream_gene_variant BRCA-EU 22 32884963 32884963 single base substitution A T downstream_gene_variant BRCA-EU 22 32884963 32884963 single base substitution A T exon_variant BRCA-EU 22 32884963 32884963 single base substitution A T intron_variant BRCA-EU 22 32885527 32885530 deletion of <=200bp ACTT - exon_variant BRCA-EU 22 32885527 32885530 deletion of <=200bp ACTT - intron_variant BRCA-EU 22 32886816 32886816 single base substitution A T exon_variant BRCA-EU 22 32886816 32886816 single base substitution A T intron_variant BRCA-EU 22 32887210 32887210 single base substitution A C downstream_gene_variant BRCA-EU 22 32887210 32887210 single base substitution A C exon_variant BRCA-EU 22 32887210 32887210 single base substitution A C intron_variant BRCA-EU 22 32887414 32887414 single base substitution C T downstream_gene_variant BRCA-EU 22 32887414 32887414 single base substitution C T exon_variant BRCA-EU 22 32887414 32887414 single base substitution C T intron_variant BRCA-EU 22 32889178 32889178 single base substitution G A 3_prime_UTR_variant BRCA-EU 22 32889178 32889178 single base substitution G A downstream_gene_variant BRCA-EU 22 32889178 32889178 single base substitution G A exon_variant BRCA-EU 22 32889178 32889178 single base substitution G A missense_variant V238I 712G>A BRCA-EU 22 32889178 32889178 single base substitution G A missense_variant V273I 817G>A BRCA-EU 22 32889178 32889178 single base substitution G A missense_variant V352I 1054G>A BRCA-EU 22 32889439 32889439 single base substitution C T downstream_gene_variant BRCA-EU 22 32889439 32889439 single base substitution C T intron_variant BRCA-EU 22 32890358 32890358 single base substitution G A downstream_gene_variant BRCA-EU 22 32890358 32890358 single base substitution G A intron_variant BRCA-EU 22 32893653 32893653 single base substitution C T intron_variant BRCA-EU 22 32894571 32894571 single base substitution G C 3_prime_UTR_variant BRCA-EU 22 32894571 32894571 single base substitution G C exon_variant BRCA-EU 22 32895022 32895022 single base substitution G T downstream_gene_variant BRCA-EU 22 32895883 32895883 single base substitution G C downstream_gene_variant BRCA-EU 22 32896596 32896596 single base substitution C T downstream_gene_variant BRCA-FR 22 32867117 32867117 single base substitution C A upstream_gene_variant BRCA-FR 22 32876623 32876623 single base substitution T C downstream_gene_variant BRCA-FR 22 32876623 32876623 single base substitution T C intron_variant BRCA-FR 22 32884963 32884963 single base substitution A T downstream_gene_variant BRCA-FR 22 32884963 32884963 single base substitution A T exon_variant BRCA-FR 22 32884963 32884963 single base substitution A T intron_variant BRCA-FR 22 32892963 32892963 single base substitution C T intron_variant BRCA-UK 22 32872459 32872459 single base substitution C G intron_variant BRCA-UK 22 32872459 32872459 single base substitution C G upstream_gene_variant BRCA-US 22 32881084 32881084 single base substitution G A 3_prime_UTR_variant BRCA-US 22 32881084 32881084 single base substitution G A downstream_gene_variant BRCA-US 22 32881084 32881084 single base substitution G A exon_variant BRCA-US 22 32881084 32881084 single base substitution G A synonymous_variant P111P 333G>A BRCA-US 22 32881084 32881084 single base substitution G A synonymous_variant P146P 438G>A BRCA-US 22 32881084 32881084 single base substitution G A synonymous_variant P225P 675G>A BRCA-US 22 32881084 32881084 single base substitution G A upstream_gene_variant BRCA-US 22 32887130 32887130 single base substitution A C 3_prime_UTR_variant BRCA-US 22 32887130 32887130 single base substitution A C downstream_gene_variant BRCA-US 22 32887130 32887130 single base substitution A C exon_variant BRCA-US 22 32887130 32887130 single base substitution A C missense_variant D196A 587A>C BRCA-US 22 32887130 32887130 single base substitution A C missense_variant D231A 692A>C BRCA-US 22 32887130 32887130 single base substitution A C missense_variant D310A 929A>C BRCA-US 22 32889121 32889121 single base substitution G C 3_prime_UTR_variant BRCA-US 22 32889121 32889121 single base substitution G C downstream_gene_variant BRCA-US 22 32889121 32889121 single base substitution G C exon_variant BRCA-US 22 32889121 32889121 single base substitution G C missense_variant V219L 655G>C BRCA-US 22 32889121 32889121 single base substitution G C missense_variant V254L 760G>C BRCA-US 22 32889121 32889121 single base substitution G C missense_variant V333L 997G>C BRCA-US 22 32889166 32889166 single base substitution G T 3_prime_UTR_variant BRCA-US 22 32889166 32889166 single base substitution G T downstream_gene_variant BRCA-US 22 32889166 32889166 single base substitution G T exon_variant BRCA-US 22 32889166 32889166 single base substitution G T missense_variant D234Y 700G>T BRCA-US 22 32889166 32889166 single base substitution G T missense_variant D269Y 805G>T BRCA-US 22 32889166 32889166 single base substitution G T missense_variant D348Y 1042G>T BRCA-US 22 32891506 32891506 single base substitution G C 3_prime_UTR_variant BRCA-US 22 32891506 32891506 single base substitution G C downstream_gene_variant BRCA-US 22 32891506 32891506 single base substitution G C exon_variant BRCA-US 22 32891506 32891506 single base substitution G C missense_variant D277H 829G>C BRCA-US 22 32891506 32891506 single base substitution G C missense_variant D312H 934G>C BRCA-US 22 32891506 32891506 single base substitution G C missense_variant D391H 1171G>C BRCA-US 22 32894237 32894237 single base substitution A C 3_prime_UTR_variant BRCA-US 22 32894237 32894237 single base substitution A C exon_variant BRCA-US 22 32894237 32894237 single base substitution A C missense_variant H316P 947A>C BRCA-US 22 32894237 32894237 single base substitution A C missense_variant H351P 1052A>C BRCA-US 22 32894237 32894237 single base substitution A C missense_variant H430P 1289A>C BTCA-JP 22 32894354 32894354 single base substitution G A 3_prime_UTR_variant BTCA-JP 22 32894354 32894354 single base substitution G A exon_variant BTCA-JP 22 32894354 32894354 single base substitution G A missense_variant G355E 1064G>A BTCA-JP 22 32894354 32894354 single base substitution G A missense_variant G390E 1169G>A BTCA-JP 22 32894354 32894354 single base substitution G A missense_variant G469E 1406G>A COAD-US 22 32871383 32871383 single base substitution T G intron_variant COAD-US 22 32871383 32871383 single base substitution T G missense_variant L12R 35T>G COAD-US 22 32871383 32871383 single base substitution T G splice_region_variant COAD-US 22 32871383 32871383 single base substitution T G upstream_gene_variant COAD-US 22 32875190 32875190 single base substitution G A 3_prime_UTR_variant COAD-US 22 32875190 32875190 single base substitution G A exon_variant COAD-US 22 32875190 32875190 single base substitution G A intron_variant COAD-US 22 32875190 32875190 single base substitution G A missense_variant M115I 345G>A COAD-US 22 32875190 32875190 single base substitution G A missense_variant M36I 108G>A COAD-US 22 32875190 32875190 single base substitution G A start_lost M1I 3G>A COAD-US 22 32879987 32879987 single base substitution C T 3_prime_UTR_variant COAD-US 22 32879987 32879987 single base substitution C T downstream_gene_variant COAD-US 22 32879987 32879987 single base substitution C T exon_variant COAD-US 22 32879987 32879987 single base substitution C T missense_variant S174L 521C>T COAD-US 22 32879987 32879987 single base substitution C T missense_variant S60L 179C>T COAD-US 22 32879987 32879987 single base substitution C T missense_variant S95L 284C>T COAD-US 22 32879987 32879987 single base substitution C T upstream_gene_variant COAD-US 22 32887150 32887150 single base substitution C T 3_prime_UTR_variant COAD-US 22 32887150 32887150 single base substitution C T downstream_gene_variant COAD-US 22 32887150 32887150 single base substitution C T exon_variant COAD-US 22 32887150 32887150 single base substitution C T synonymous_variant L203L 607C>T COAD-US 22 32887150 32887150 single base substitution C T synonymous_variant L238L 712C>T COAD-US 22 32887150 32887150 single base substitution C T synonymous_variant L317L 949C>T COCA-CN 22 32883659 32883659 single base substitution G T downstream_gene_variant COCA-CN 22 32883659 32883659 single base substitution G T exon_variant COCA-CN 22 32883659 32883659 single base substitution G T intron_variant COCA-CN 22 32887167 32887167 single base substitution A C downstream_gene_variant COCA-CN 22 32887167 32887167 single base substitution A C exon_variant COCA-CN 22 32887167 32887167 single base substitution A C missense_variant Q208H 624A>C COCA-CN 22 32887167 32887167 single base substitution A C missense_variant Q243H 729A>C COCA-CN 22 32887167 32887167 single base substitution A C missense_variant Q322H 966A>C COCA-CN 22 32887167 32887167 single base substitution A C splice_region_variant COCA-CN 22 32894390 32894390 single base substitution G A 3_prime_UTR_variant COCA-CN 22 32894390 32894390 single base substitution G A exon_variant COCA-CN 22 32894390 32894390 single base substitution G A missense_variant R367H 1100G>A COCA-CN 22 32894390 32894390 single base substitution G A missense_variant R402H 1205G>A COCA-CN 22 32894390 32894390 single base substitution G A missense_variant R481H 1442G>A COCA-CN 22 32894440 32894440 single base substitution C T 3_prime_UTR_variant COCA-CN 22 32894440 32894440 single base substitution C T exon_variant COCA-CN 22 32894440 32894440 single base substitution C T stop_gained R384* 1150C>T COCA-CN 22 32894440 32894440 single base substitution C T stop_gained R419* 1255C>T COCA-CN 22 32894440 32894440 single base substitution C T stop_gained R498* 1492C>T ESAD-UK 22 32866741 32866741 single base substitution G A upstream_gene_variant ESAD-UK 22 32870588 32870588 single base substitution G A upstream_gene_variant ESAD-UK 22 32875634 32875634 single base substitution G A downstream_gene_variant ESAD-UK 22 32875634 32875634 single base substitution G A intron_variant ESAD-UK 22 32876024 32876024 single base substitution G T downstream_gene_variant ESAD-UK 22 32876024 32876024 single base substitution G T intron_variant ESAD-UK 22 32876356 32876356 single base substitution T A downstream_gene_variant ESAD-UK 22 32876356 32876356 single base substitution T A intron_variant ESAD-UK 22 32876590 32876590 single base substitution T C downstream_gene_variant ESAD-UK 22 32876590 32876590 single base substitution T C intron_variant ESAD-UK 22 32880601 32880601 single base substitution C G downstream_gene_variant ESAD-UK 22 32880601 32880601 single base substitution C G intron_variant ESAD-UK 22 32880601 32880601 single base substitution C G upstream_gene_variant ESAD-UK 22 32882258 32882258 single base substitution T G downstream_gene_variant ESAD-UK 22 32882258 32882258 single base substitution T G intron_variant ESAD-UK 22 32882258 32882258 single base substitution T G upstream_gene_variant ESAD-UK 22 32885237 32885237 single base substitution T G exon_variant ESAD-UK 22 32885237 32885237 single base substitution T G intron_variant ESAD-UK 22 32888408 32888408 single base substitution C A downstream_gene_variant ESAD-UK 22 32888408 32888408 single base substitution C A exon_variant ESAD-UK 22 32888408 32888408 single base substitution C A intron_variant ESAD-UK 22 32890434 32890434 single base substitution C G downstream_gene_variant ESAD-UK 22 32890434 32890434 single base substitution C G intron_variant ESAD-UK 22 32890494 32890494 deletion of <=200bp A - downstream_gene_variant ESAD-UK 22 32890494 32890494 deletion of <=200bp A - intron_variant ESAD-UK 22 32892480 32892480 deletion of <=200bp A - intron_variant ESAD-UK 22 32894799 32894799 deletion of <=200bp A - 3_prime_UTR_variant ESAD-UK 22 32894799 32894799 deletion of <=200bp A - exon_variant ESAD-UK 22 32899519 32899519 single base substitution G A downstream_gene_variant ESAD-UK 22 32899807 32899807 single base substitution T C downstream_gene_variant ESAD-UK 22 32899811 32899811 single base substitution A C downstream_gene_variant GBM-US 22 32887162 32887162 single base substitution C T 3_prime_UTR_variant GBM-US 22 32887162 32887162 single base substitution C T downstream_gene_variant GBM-US 22 32887162 32887162 single base substitution C T exon_variant GBM-US 22 32887162 32887162 single base substitution C T stop_gained R207* 619C>T GBM-US 22 32887162 32887162 single base substitution C T stop_gained R242* 724C>T GBM-US 22 32887162 32887162 single base substitution C T stop_gained R321* 961C>T KIRC-US 22 32875201 32875201 single base substitution A C 3_prime_UTR_variant KIRC-US 22 32875201 32875201 single base substitution A C exon_variant KIRC-US 22 32875201 32875201 single base substitution A C intron_variant KIRC-US 22 32875201 32875201 single base substitution A C missense_variant Q119P 356A>C KIRC-US 22 32875201 32875201 single base substitution A C missense_variant Q40P 119A>C KIRC-US 22 32875201 32875201 single base substitution A C missense_variant Q5P 14A>C KIRC-US 22 32894289 32894290 deletion of <=200bp AT - 3_prime_UTR_variant KIRC-US 22 32894289 32894290 deletion of <=200bp AT - exon_variant KIRC-US 22 32894289 32894290 deletion of <=200bp AT - frameshift_variant EY333 KIRC-US 22 32894289 32894290 deletion of <=200bp AT - frameshift_variant EY368 KIRC-US 22 32894289 32894290 deletion of <=200bp AT - frameshift_variant EY447 KIRP-US 22 32889131 32889131 single base substitution C A 3_prime_UTR_variant KIRP-US 22 32889131 32889131 single base substitution C A downstream_gene_variant KIRP-US 22 32889131 32889131 single base substitution C A exon_variant KIRP-US 22 32889131 32889131 single base substitution C A missense_variant P222Q 665C>A KIRP-US 22 32889131 32889131 single base substitution C A missense_variant P257Q 770C>A KIRP-US 22 32889131 32889131 single base substitution C A missense_variant P336Q 1007C>A LAML-KR 22 32876688 32876688 single base substitution A C downstream_gene_variant LAML-KR 22 32876688 32876688 single base substitution A C intron_variant LAML-KR 22 32886998 32886998 single base substitution T C exon_variant LAML-KR 22 32886998 32886998 single base substitution T C intron_variant LGG-US 22 32879927 32879927 single base substitution A G 3_prime_UTR_variant LGG-US 22 32879927 32879927 single base substitution A G downstream_gene_variant LGG-US 22 32879927 32879927 single base substitution A G exon_variant LGG-US 22 32879927 32879927 single base substitution A G missense_variant N154S 461A>G LGG-US 22 32879927 32879927 single base substitution A G missense_variant N40S 119A>G LGG-US 22 32879927 32879927 single base substitution A G missense_variant N75S 224A>G LGG-US 22 32879927 32879927 single base substitution A G upstream_gene_variant LICA-FR 22 32879961 32879961 single base substitution C G 3_prime_UTR_variant LICA-FR 22 32879961 32879961 single base substitution C G downstream_gene_variant LICA-FR 22 32879961 32879961 single base substitution C G exon_variant LICA-FR 22 32879961 32879961 single base substitution C G synonymous_variant P165P 495C>G LICA-FR 22 32879961 32879961 single base substitution C G synonymous_variant P51P 153C>G LICA-FR 22 32879961 32879961 single base substitution C G synonymous_variant P86P 258C>G LICA-FR 22 32879961 32879961 single base substitution C G upstream_gene_variant LICA-FR 22 32887596 32887596 single base substitution G A downstream_gene_variant LICA-FR 22 32887596 32887596 single base substitution G A exon_variant LICA-FR 22 32887596 32887596 single base substitution G A intron_variant LICA-FR 22 32894291 32894291 single base substitution A G 3_prime_UTR_variant LICA-FR 22 32894291 32894291 single base substitution A G exon_variant LICA-FR 22 32894291 32894291 single base substitution A G missense_variant Y334C 1001A>G LICA-FR 22 32894291 32894291 single base substitution A G missense_variant Y369C 1106A>G LICA-FR 22 32894291 32894291 single base substitution A G missense_variant Y448C 1343A>G LIHC-US 22 32881139 32881139 single base substitution G C 3_prime_UTR_variant LIHC-US 22 32881139 32881139 single base substitution G C downstream_gene_variant LIHC-US 22 32881139 32881139 single base substitution G C exon_variant LIHC-US 22 32881139 32881139 single base substitution G C missense_variant E130Q 388G>C LIHC-US 22 32881139 32881139 single base substitution G C missense_variant E165Q 493G>C LIHC-US 22 32881139 32881139 single base substitution G C missense_variant E244Q 730G>C LIHC-US 22 32881139 32881139 single base substitution G C upstream_gene_variant LINC-JP 22 32870938 32870938 single base substitution C G 5_prime_UTR_variant LINC-JP 22 32870938 32870938 single base substitution C G upstream_gene_variant LINC-JP 22 32881046 32881046 single base substitution G T downstream_gene_variant LINC-JP 22 32881046 32881046 single base substitution G T intron_variant LINC-JP 22 32881046 32881046 single base substitution G T upstream_gene_variant LINC-JP 22 32883800 32883800 single base substitution T C 3_prime_UTR_variant LINC-JP 22 32883800 32883800 single base substitution T C downstream_gene_variant LINC-JP 22 32883800 32883800 single base substitution T C exon_variant LINC-JP 22 32883800 32883800 single base substitution T C missense_variant C172R 514T>C LINC-JP 22 32883800 32883800 single base substitution T C missense_variant C207R 619T>C LINC-JP 22 32883800 32883800 single base substitution T C missense_variant C286R 856T>C LINC-JP 22 32887823 32887823 single base substitution C T downstream_gene_variant LINC-JP 22 32887823 32887823 single base substitution C T exon_variant LINC-JP 22 32887823 32887823 single base substitution C T intron_variant LIRI-JP 22 32867985 32867985 single base substitution A G upstream_gene_variant LIRI-JP 22 32868254 32868254 single base substitution T C upstream_gene_variant LIRI-JP 22 32869372 32869372 single base substitution A G upstream_gene_variant LIRI-JP 22 32869588 32869588 single base substitution A G upstream_gene_variant LIRI-JP 22 32869878 32869878 single base substitution C T upstream_gene_variant LIRI-JP 22 32873953 32873953 single base substitution A C intron_variant LIRI-JP 22 32873953 32873953 single base substitution A C upstream_gene_variant LIRI-JP 22 32876960 32876960 single base substitution G A downstream_gene_variant LIRI-JP 22 32876960 32876960 single base substitution G A intron_variant LIRI-JP 22 32880175 32880175 single base substitution C G downstream_gene_variant LIRI-JP 22 32880175 32880175 single base substitution C G intron_variant LIRI-JP 22 32880175 32880175 single base substitution C G upstream_gene_variant LIRI-JP 22 32880749 32880749 single base substitution A G downstream_gene_variant LIRI-JP 22 32880749 32880749 single base substitution A G intron_variant LIRI-JP 22 32880749 32880749 single base substitution A G upstream_gene_variant LIRI-JP 22 32882917 32882917 single base substitution A T downstream_gene_variant LIRI-JP 22 32882917 32882917 single base substitution A T intron_variant LIRI-JP 22 32882917 32882917 single base substitution A T upstream_gene_variant LIRI-JP 22 32886195 32886195 single base substitution A G exon_variant LIRI-JP 22 32886195 32886195 single base substitution A G intron_variant LIRI-JP 22 32886527 32886527 single base substitution C G exon_variant LIRI-JP 22 32886527 32886527 single base substitution C G intron_variant LIRI-JP 22 32886574 32886574 single base substitution G T exon_variant LIRI-JP 22 32886574 32886574 single base substitution G T intron_variant LIRI-JP 22 32887341 32887341 single base substitution T G downstream_gene_variant LIRI-JP 22 32887341 32887341 single base substitution T G exon_variant LIRI-JP 22 32887341 32887341 single base substitution T G intron_variant LIRI-JP 22 32888879 32888879 single base substitution A G downstream_gene_variant LIRI-JP 22 32888879 32888879 single base substitution A G exon_variant LIRI-JP 22 32888879 32888879 single base substitution A G intron_variant LIRI-JP 22 32890842 32890842 deletion of <=200bp T - downstream_gene_variant LIRI-JP 22 32890842 32890842 deletion of <=200bp T - intron_variant LIRI-JP 22 32892188 32892188 single base substitution C T intron_variant LIRI-JP 22 32892964 32892964 single base substitution G A intron_variant LIRI-JP 22 32893453 32893453 single base substitution A G intron_variant LIRI-JP 22 32893818 32893818 single base substitution A G intron_variant LIRI-JP 22 32894211 32894211 single base substitution C T 3_prime_UTR_variant LIRI-JP 22 32894211 32894211 single base substitution C T exon_variant LIRI-JP 22 32894211 32894211 single base substitution C T synonymous_variant T307T 921C>T LIRI-JP 22 32894211 32894211 single base substitution C T synonymous_variant T342T 1026C>T LIRI-JP 22 32894211 32894211 single base substitution C T synonymous_variant T421T 1263C>T LIRI-JP 22 32894784 32894784 single base substitution T C 3_prime_UTR_variant LIRI-JP 22 32894784 32894784 single base substitution T C exon_variant LIRI-JP 22 32896497 32896497 single base substitution C G downstream_gene_variant LIRI-JP 22 32896711 32896711 single base substitution A G downstream_gene_variant LIRI-JP 22 32896863 32896863 single base substitution C A downstream_gene_variant LIRI-JP 22 32899106 32899106 single base substitution G A downstream_gene_variant LUSC-KR 22 32867819 32867819 single base substitution C T upstream_gene_variant LUSC-KR 22 32870065 32870065 single base substitution G A upstream_gene_variant LUSC-KR 22 32871364 32871364 single base substitution G T 5_prime_UTR_premature_start_codon_gain_variant LUSC-KR 22 32871364 32871364 single base substitution G T intron_variant LUSC-KR 22 32871364 32871364 single base substitution G T missense_variant G6W 16G>T LUSC-KR 22 32871364 32871364 single base substitution G T upstream_gene_variant LUSC-KR 22 32874004 32874004 single base substitution G T intron_variant LUSC-KR 22 32874004 32874004 single base substitution G T upstream_gene_variant LUSC-KR 22 32879810 32879810 single base substitution C T downstream_gene_variant LUSC-KR 22 32879810 32879810 single base substitution C T intron_variant LUSC-KR 22 32879810 32879810 single base substitution C T upstream_gene_variant LUSC-KR 22 32880672 32880672 single base substitution G A downstream_gene_variant LUSC-KR 22 32880672 32880672 single base substitution G A intron_variant LUSC-KR 22 32880672 32880672 single base substitution G A upstream_gene_variant LUSC-KR 22 32883229 32883229 single base substitution C A downstream_gene_variant LUSC-KR 22 32883229 32883229 single base substitution C A intron_variant LUSC-KR 22 32883229 32883229 single base substitution C A upstream_gene_variant LUSC-KR 22 32885166 32885166 single base substitution C T exon_variant LUSC-KR 22 32885166 32885166 single base substitution C T intron_variant LUSC-KR 22 32888140 32888140 single base substitution C A downstream_gene_variant LUSC-KR 22 32888140 32888140 single base substitution C A exon_variant LUSC-KR 22 32888140 32888140 single base substitution C A intron_variant LUSC-KR 22 32897192 32897192 single base substitution C G downstream_gene_variant LUSC-KR 22 32897973 32897973 single base substitution C T downstream_gene_variant LUSC-KR 22 32898214 32898214 single base substitution G T downstream_gene_variant LUSC-US 22 32889094 32889094 single base substitution C G downstream_gene_variant LUSC-US 22 32889094 32889094 single base substitution C G exon_variant LUSC-US 22 32889094 32889094 single base substitution C G missense_variant L210V 628C>G LUSC-US 22 32889094 32889094 single base substitution C G missense_variant L245V 733C>G LUSC-US 22 32889094 32889094 single base substitution C G missense_variant L324V 970C>G LUSC-US 22 32889094 32889094 single base substitution C G splice_region_variant LUSC-US 22 32894464 32894464 single base substitution C T 3_prime_UTR_variant LUSC-US 22 32894464 32894464 single base substitution C T exon_variant LUSC-US 22 32894464 32894464 single base substitution C T missense_variant P392S 1174C>T LUSC-US 22 32894464 32894464 single base substitution C T missense_variant P427S 1279C>T LUSC-US 22 32894464 32894464 single base substitution C T missense_variant P506S 1516C>T MALY-DE 22 32869981 32869981 single base substitution C T upstream_gene_variant MALY-DE 22 32870556 32870556 single base substitution C A upstream_gene_variant MALY-DE 22 32872672 32872672 single base substitution G A intron_variant MALY-DE 22 32872672 32872672 single base substitution G A upstream_gene_variant MALY-DE 22 32883762 32883762 single base substitution G A 3_prime_UTR_variant MALY-DE 22 32883762 32883762 single base substitution G A downstream_gene_variant MALY-DE 22 32883762 32883762 single base substitution G A exon_variant MALY-DE 22 32883762 32883762 single base substitution G A missense_variant S159N 476G>A MALY-DE 22 32883762 32883762 single base substitution G A missense_variant S194N 581G>A MALY-DE 22 32883762 32883762 single base substitution G A missense_variant S273N 818G>A MALY-DE 22 32892991 32892991 single base substitution T C intron_variant MALY-DE 22 32893301 32893301 single base substitution C T intron_variant MELA-AU 22 32866509 32866509 single base substitution G A upstream_gene_variant MELA-AU 22 32866894 32866894 single base substitution C T upstream_gene_variant MELA-AU 22 32867023 32867023 single base substitution C T upstream_gene_variant MELA-AU 22 32867103 32867103 single base substitution G A upstream_gene_variant MELA-AU 22 32867147 32867147 single base substitution C T upstream_gene_variant MELA-AU 22 32867176 32867176 single base substitution G A upstream_gene_variant MELA-AU 22 32867701 32867701 single base substitution G A upstream_gene_variant MELA-AU 22 32867909 32867910 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 22 32868066 32868066 single base substitution G A upstream_gene_variant MELA-AU 22 32868083 32868083 single base substitution C T upstream_gene_variant MELA-AU 22 32868191 32868191 single base substitution C T upstream_gene_variant MELA-AU 22 32868280 32868280 single base substitution G A upstream_gene_variant MELA-AU 22 32868926 32868926 single base substitution G A upstream_gene_variant MELA-AU 22 32870806 32870806 single base substitution C T 5_prime_UTR_variant MELA-AU 22 32870806 32870806 single base substitution C T upstream_gene_variant MELA-AU 22 32872223 32872223 single base substitution A G intron_variant MELA-AU 22 32872223 32872223 single base substitution A G upstream_gene_variant MELA-AU 22 32873499 32873515 deletion of <=200bp GCTTATTTGAATTCTGA - intron_variant MELA-AU 22 32873499 32873515 deletion of <=200bp GCTTATTTGAATTCTGA - upstream_gene_variant MELA-AU 22 32874442 32874442 single base substitution T C intron_variant MELA-AU 22 32875356 32875356 single base substitution C A downstream_gene_variant MELA-AU 22 32875356 32875356 single base substitution C A intron_variant MELA-AU 22 32875633 32875633 single base substitution C T downstream_gene_variant MELA-AU 22 32875633 32875633 single base substitution C T intron_variant MELA-AU 22 32878127 32878127 single base substitution C T downstream_gene_variant MELA-AU 22 32878127 32878127 single base substitution C T intron_variant MELA-AU 22 32879960 32879960 single base substitution C T 3_prime_UTR_variant MELA-AU 22 32879960 32879960 single base substitution C T downstream_gene_variant MELA-AU 22 32879960 32879960 single base substitution C T exon_variant MELA-AU 22 32879960 32879960 single base substitution C T missense_variant P165L 494C>T MELA-AU 22 32879960 32879960 single base substitution C T missense_variant P51L 152C>T MELA-AU 22 32879960 32879960 single base substitution C T missense_variant P86L 257C>T MELA-AU 22 32879960 32879960 single base substitution C T upstream_gene_variant MELA-AU 22 32880188 32880188 single base substitution T C downstream_gene_variant MELA-AU 22 32880188 32880188 single base substitution T C intron_variant MELA-AU 22 32880188 32880188 single base substitution T C upstream_gene_variant MELA-AU 22 32880987 32880987 single base substitution G T downstream_gene_variant MELA-AU 22 32880987 32880987 single base substitution G T intron_variant MELA-AU 22 32880987 32880987 single base substitution G T upstream_gene_variant MELA-AU 22 32881842 32881842 single base substitution A T downstream_gene_variant MELA-AU 22 32881842 32881842 single base substitution A T intron_variant MELA-AU 22 32881842 32881842 single base substitution A T upstream_gene_variant MELA-AU 22 32882656 32882656 single base substitution C T downstream_gene_variant MELA-AU 22 32882656 32882656 single base substitution C T intron_variant MELA-AU 22 32882656 32882656 single base substitution C T upstream_gene_variant MELA-AU 22 32883179 32883179 single base substitution A G downstream_gene_variant MELA-AU 22 32883179 32883179 single base substitution A G intron_variant MELA-AU 22 32883179 32883179 single base substitution A G upstream_gene_variant MELA-AU 22 32883299 32883299 single base substitution G A downstream_gene_variant MELA-AU 22 32883299 32883299 single base substitution G A exon_variant MELA-AU 22 32883299 32883299 single base substitution G A intron_variant MELA-AU 22 32883337 32883337 single base substitution T A downstream_gene_variant MELA-AU 22 32883337 32883337 single base substitution T A exon_variant MELA-AU 22 32883337 32883337 single base substitution T A intron_variant MELA-AU 22 32883929 32883929 single base substitution A G downstream_gene_variant MELA-AU 22 32883929 32883929 single base substitution A G exon_variant MELA-AU 22 32883929 32883929 single base substitution A G intron_variant MELA-AU 22 32884621 32884621 single base substitution T C downstream_gene_variant MELA-AU 22 32884621 32884621 single base substitution T C exon_variant MELA-AU 22 32884621 32884621 single base substitution T C intron_variant MELA-AU 22 32885181 32885181 single base substitution C T exon_variant MELA-AU 22 32885181 32885181 single base substitution C T intron_variant MELA-AU 22 32885354 32885354 single base substitution G A exon_variant MELA-AU 22 32885354 32885354 single base substitution G A intron_variant MELA-AU 22 32885666 32885666 single base substitution G A exon_variant MELA-AU 22 32885666 32885666 single base substitution G A intron_variant MELA-AU 22 32885874 32885874 single base substitution C T exon_variant MELA-AU 22 32885874 32885874 single base substitution C T intron_variant MELA-AU 22 32888174 32888174 single base substitution T C downstream_gene_variant MELA-AU 22 32888174 32888174 single base substitution T C exon_variant MELA-AU 22 32888174 32888174 single base substitution T C intron_variant MELA-AU 22 32888484 32888484 single base substitution T A downstream_gene_variant MELA-AU 22 32888484 32888484 single base substitution T A exon_variant MELA-AU 22 32888484 32888484 single base substitution T A intron_variant MELA-AU 22 32889084 32889084 single base substitution C T downstream_gene_variant MELA-AU 22 32889084 32889084 single base substitution C T exon_variant MELA-AU 22 32889084 32889084 single base substitution C T splice_region_variant MELA-AU 22 32890041 32890041 single base substitution T G downstream_gene_variant MELA-AU 22 32890041 32890041 single base substitution T G intron_variant MELA-AU 22 32890738 32890738 single base substitution T C downstream_gene_variant MELA-AU 22 32890738 32890738 single base substitution T C intron_variant MELA-AU 22 32890944 32890944 single base substitution A T downstream_gene_variant MELA-AU 22 32890944 32890944 single base substitution A T intron_variant MELA-AU 22 32891221 32891221 single base substitution T C downstream_gene_variant MELA-AU 22 32891221 32891221 single base substitution T C intron_variant MELA-AU 22 32891368 32891368 single base substitution T C downstream_gene_variant MELA-AU 22 32891368 32891368 single base substitution T C intron_variant MELA-AU 22 32892619 32892619 insertion of <=200bp - T intron_variant MELA-AU 22 32893977 32893977 single base substitution T G intron_variant MELA-AU 22 32894860 32894860 single base substitution A T downstream_gene_variant MELA-AU 22 32895041 32895041 single base substitution G A downstream_gene_variant MELA-AU 22 32895407 32895407 single base substitution C T downstream_gene_variant MELA-AU 22 32895618 32895618 single base substitution C T downstream_gene_variant MELA-AU 22 32897367 32897367 single base substitution G A downstream_gene_variant MELA-AU 22 32897497 32897497 single base substitution C T downstream_gene_variant MELA-AU 22 32897762 32897762 single base substitution C T downstream_gene_variant MELA-AU 22 32898179 32898179 single base substitution A T downstream_gene_variant MELA-AU 22 32898662 32898662 single base substitution C A downstream_gene_variant MELA-AU 22 32899656 32899656 single base substitution C T downstream_gene_variant MELA-AU 22 32899768 32899768 single base substitution C T downstream_gene_variant MELA-AU 22 32899817 32899817 single base substitution G A downstream_gene_variant ORCA-IN 22 32871025 32871025 single base substitution G A exon_variant ORCA-IN 22 32871025 32871025 single base substitution G A stop_gained W12* 36G>A ORCA-IN 22 32871025 32871025 single base substitution G A upstream_gene_variant ORCA-IN 22 32871673 32871673 single base substitution G A 5_prime_UTR_variant ORCA-IN 22 32871673 32871673 single base substitution G A intron_variant ORCA-IN 22 32871673 32871673 single base substitution G A upstream_gene_variant ORCA-IN 22 32875222 32875222 single base substitution G A 3_prime_UTR_variant ORCA-IN 22 32875222 32875222 single base substitution G A downstream_gene_variant ORCA-IN 22 32875222 32875222 single base substitution G A exon_variant ORCA-IN 22 32875222 32875222 single base substitution G A intron_variant ORCA-IN 22 32875222 32875222 single base substitution G A missense_variant G126E 377G>A ORCA-IN 22 32875222 32875222 single base substitution G A missense_variant G12E 35G>A ORCA-IN 22 32875222 32875222 single base substitution G A missense_variant G47E 140G>A ORCA-IN 22 32885343 32885343 single base substitution G A exon_variant ORCA-IN 22 32885343 32885343 single base substitution G A intron_variant OV-AU 22 32872773 32872773 single base substitution C A intron_variant OV-AU 22 32872773 32872773 single base substitution C A upstream_gene_variant OV-AU 22 32872774 32872774 single base substitution T A intron_variant OV-AU 22 32872774 32872774 single base substitution T A upstream_gene_variant OV-AU 22 32875209 32875209 single base substitution G A 3_prime_UTR_variant OV-AU 22 32875209 32875209 single base substitution G A exon_variant OV-AU 22 32875209 32875209 single base substitution G A intron_variant OV-AU 22 32875209 32875209 single base substitution G A missense_variant D122N 364G>A OV-AU 22 32875209 32875209 single base substitution G A missense_variant D43N 127G>A OV-AU 22 32875209 32875209 single base substitution G A missense_variant D8N 22G>A OV-AU 22 32876330 32876330 single base substitution T C downstream_gene_variant OV-AU 22 32876330 32876330 single base substitution T C intron_variant OV-AU 22 32880082 32880082 single base substitution C T 3_prime_UTR_variant OV-AU 22 32880082 32880082 single base substitution C T downstream_gene_variant OV-AU 22 32880082 32880082 single base substitution C T exon_variant OV-AU 22 32880082 32880082 single base substitution C T missense_variant L127F 379C>T OV-AU 22 32880082 32880082 single base substitution C T missense_variant L206F 616C>T OV-AU 22 32880082 32880082 single base substitution C T missense_variant L92F 274C>T OV-AU 22 32880082 32880082 single base substitution C T upstream_gene_variant OV-AU 22 32888255 32888255 single base substitution T G downstream_gene_variant OV-AU 22 32888255 32888255 single base substitution T G exon_variant OV-AU 22 32888255 32888255 single base substitution T G intron_variant OV-AU 22 32891442 32891442 single base substitution A T downstream_gene_variant OV-AU 22 32891442 32891442 single base substitution A T intron_variant OV-AU 22 32892155 32892155 single base substitution T C intron_variant OV-AU 22 32892254 32892254 single base substitution G T intron_variant OV-AU 22 32892327 32892327 single base substitution G A intron_variant OV-AU 22 32892970 32892970 single base substitution G A intron_variant OV-AU 22 32898185 32898185 single base substitution G C downstream_gene_variant OV-US 22 32881059 32881059 single base substitution C T 3_prime_UTR_variant OV-US 22 32881059 32881059 single base substitution C T downstream_gene_variant OV-US 22 32881059 32881059 single base substitution C T exon_variant OV-US 22 32881059 32881059 single base substitution C T missense_variant T103I 308C>T OV-US 22 32881059 32881059 single base substitution C T missense_variant T138I 413C>T OV-US 22 32881059 32881059 single base substitution C T missense_variant T217I 650C>T OV-US 22 32881059 32881059 single base substitution C T upstream_gene_variant PACA-AU 22 32866589 32866589 single base substitution C T upstream_gene_variant PACA-AU 22 32873242 32873242 single base substitution A T intron_variant PACA-AU 22 32873242 32873242 single base substitution A T upstream_gene_variant PACA-AU 22 32877726 32877726 single base substitution C T downstream_gene_variant PACA-AU 22 32877726 32877726 single base substitution C T intron_variant PACA-AU 22 32877913 32877913 single base substitution T G downstream_gene_variant PACA-AU 22 32877913 32877913 single base substitution T G intron_variant PACA-AU 22 32881599 32881599 single base substitution A T downstream_gene_variant PACA-AU 22 32881599 32881599 single base substitution A T intron_variant PACA-AU 22 32881599 32881599 single base substitution A T upstream_gene_variant PACA-AU 22 32882028 32882028 single base substitution G T downstream_gene_variant PACA-AU 22 32882028 32882028 single base substitution G T intron_variant PACA-AU 22 32882028 32882028 single base substitution G T upstream_gene_variant PACA-AU 22 32883584 32883584 single base substitution C T downstream_gene_variant PACA-AU 22 32883584 32883584 single base substitution C T exon_variant PACA-AU 22 32883584 32883584 single base substitution C T intron_variant PACA-AU 22 32884482 32884482 single base substitution T A downstream_gene_variant PACA-AU 22 32884482 32884482 single base substitution T A exon_variant PACA-AU 22 32884482 32884482 single base substitution T A intron_variant PACA-AU 22 32886084 32886084 single base substitution T G exon_variant PACA-AU 22 32886084 32886084 single base substitution T G intron_variant PACA-AU 22 32890706 32890706 single base substitution G A downstream_gene_variant PACA-AU 22 32890706 32890706 single base substitution G A intron_variant PACA-AU 22 32892839 32892839 single base substitution T C intron_variant PACA-AU 22 32894961 32894961 single base substitution T G downstream_gene_variant PACA-AU 22 32894965 32894965 single base substitution T A downstream_gene_variant PACA-AU 22 32898461 32898461 single base substitution G A downstream_gene_variant PACA-AU 22 32899167 32899167 single base substitution G A downstream_gene_variant PACA-CA 22 32866335 32866335 single base substitution A C upstream_gene_variant PACA-CA 22 32867131 32867131 single base substitution T G upstream_gene_variant PACA-CA 22 32867648 32867652 deletion of <=200bp CCTGT - upstream_gene_variant PACA-CA 22 32872341 32872341 single base substitution C T intron_variant PACA-CA 22 32872341 32872341 single base substitution C T upstream_gene_variant PACA-CA 22 32873320 32873320 single base substitution T C intron_variant PACA-CA 22 32873320 32873320 single base substitution T C upstream_gene_variant PACA-CA 22 32873382 32873382 deletion of <=200bp A - intron_variant PACA-CA 22 32873382 32873382 deletion of <=200bp A - upstream_gene_variant PACA-CA 22 32877568 32877568 single base substitution G T downstream_gene_variant PACA-CA 22 32877568 32877568 single base substitution G T intron_variant PACA-CA 22 32880000 32880000 single base substitution A G 3_prime_UTR_variant PACA-CA 22 32880000 32880000 single base substitution A G downstream_gene_variant PACA-CA 22 32880000 32880000 single base substitution A G exon_variant PACA-CA 22 32880000 32880000 single base substitution A G synonymous_variant Q178Q 534A>G PACA-CA 22 32880000 32880000 single base substitution A G synonymous_variant Q64Q 192A>G PACA-CA 22 32880000 32880000 single base substitution A G synonymous_variant Q99Q 297A>G PACA-CA 22 32880000 32880000 single base substitution A G upstream_gene_variant PACA-CA 22 32881943 32881943 single base substitution C T downstream_gene_variant PACA-CA 22 32881943 32881943 single base substitution C T intron_variant PACA-CA 22 32881943 32881943 single base substitution C T upstream_gene_variant PACA-CA 22 32883152 32883152 single base substitution C A downstream_gene_variant PACA-CA 22 32883152 32883152 single base substitution C A intron_variant PACA-CA 22 32883152 32883152 single base substitution C A upstream_gene_variant PACA-CA 22 32883344 32883344 single base substitution A G downstream_gene_variant PACA-CA 22 32883344 32883344 single base substitution A G exon_variant PACA-CA 22 32883344 32883344 single base substitution A G intron_variant PACA-CA 22 32885283 32885283 insertion of <=200bp - T exon_variant PACA-CA 22 32885283 32885283 insertion of <=200bp - T intron_variant PACA-CA 22 32885289 32885289 single base substitution A T exon_variant PACA-CA 22 32885289 32885289 single base substitution A T intron_variant PACA-CA 22 32886337 32886337 single base substitution G A exon_variant PACA-CA 22 32886337 32886337 single base substitution G A intron_variant PACA-CA 22 32896044 32896044 single base substitution C G downstream_gene_variant PACA-CA 22 32896045 32896045 deletion of <=200bp T - downstream_gene_variant PACA-CA 22 32899102 32899102 single base substitution C A downstream_gene_variant PBCA-DE 22 32881566 32881566 single base substitution G A downstream_gene_variant PBCA-DE 22 32881566 32881566 single base substitution G A intron_variant PBCA-DE 22 32881566 32881566 single base substitution G A upstream_gene_variant PBCA-DE 22 32882121 32882121 single base substitution G A downstream_gene_variant PBCA-DE 22 32882121 32882121 single base substitution G A intron_variant PBCA-DE 22 32882121 32882121 single base substitution G A upstream_gene_variant PBCA-DE 22 32891748 32891748 single base substitution C T downstream_gene_variant PBCA-DE 22 32891748 32891748 single base substitution C T intron_variant PBCA-DE 22 32897236 32897236 single base substitution C T downstream_gene_variant PRAD-CA 22 32885422 32885422 single base substitution G A exon_variant PRAD-CA 22 32885422 32885422 single base substitution G A intron_variant PRAD-CA 22 32893497 32893497 single base substitution A G intron_variant PRAD-UK 22 32866639 32866639 single base substitution G A upstream_gene_variant PRAD-UK 22 32866909 32866909 single base substitution G A upstream_gene_variant READ-US 22 32875095 32875095 single base substitution G C 5_prime_UTR_variant READ-US 22 32875095 32875095 single base substitution G C exon_variant READ-US 22 32875095 32875095 single base substitution G C intron_variant READ-US 22 32875095 32875095 single base substitution G C missense_variant A84P 250G>C READ-US 22 32881113 32881113 single base substitution A C 3_prime_UTR_variant READ-US 22 32881113 32881113 single base substitution A C downstream_gene_variant READ-US 22 32881113 32881113 single base substitution A C exon_variant READ-US 22 32881113 32881113 single base substitution A C missense_variant K121T 362A>C READ-US 22 32881113 32881113 single base substitution A C missense_variant K156T 467A>C READ-US 22 32881113 32881113 single base substitution A C missense_variant K235T 704A>C READ-US 22 32881113 32881113 single base substitution A C upstream_gene_variant RECA-EU 22 32865664 32865664 single base substitution C G upstream_gene_variant RECA-EU 22 32866266 32866266 single base substitution A G upstream_gene_variant RECA-EU 22 32877692 32877692 single base substitution C A downstream_gene_variant RECA-EU 22 32877692 32877692 single base substitution C A intron_variant RECA-EU 22 32879402 32879402 single base substitution C T downstream_gene_variant RECA-EU 22 32879402 32879402 single base substitution C T intron_variant RECA-EU 22 32879402 32879402 single base substitution C T upstream_gene_variant RECA-EU 22 32882647 32882647 single base substitution C T downstream_gene_variant RECA-EU 22 32882647 32882647 single base substitution C T intron_variant RECA-EU 22 32882647 32882647 single base substitution C T upstream_gene_variant RECA-EU 22 32893219 32893219 single base substitution C T intron_variant RECA-EU 22 32893495 32893495 single base substitution A T intron_variant SKCA-BR 22 32866575 32866575 single base substitution C T upstream_gene_variant SKCA-BR 22 32868370 32868370 single base substitution G A upstream_gene_variant SKCA-BR 22 32868579 32868579 single base substitution G A upstream_gene_variant SKCA-BR 22 32868650 32868650 single base substitution T A upstream_gene_variant SKCA-BR 22 32868699 32868699 single base substitution T C upstream_gene_variant SKCA-BR 22 32868705 32868705 single base substitution T C upstream_gene_variant SKCA-BR 22 32868856 32868856 insertion of <=200bp - AT upstream_gene_variant SKCA-BR 22 32873428 32873428 single base substitution T C intron_variant SKCA-BR 22 32873428 32873428 single base substitution T C upstream_gene_variant SKCA-BR 22 32878270 32878270 single base substitution C T downstream_gene_variant SKCA-BR 22 32878270 32878270 single base substitution C T intron_variant SKCA-BR 22 32882414 32882414 single base substitution A G downstream_gene_variant SKCA-BR 22 32882414 32882414 single base substitution A G intron_variant SKCA-BR 22 32882414 32882414 single base substitution A G upstream_gene_variant SKCA-BR 22 32883636 32883636 single base substitution A C downstream_gene_variant SKCA-BR 22 32883636 32883636 single base substitution A C exon_variant SKCA-BR 22 32883636 32883636 single base substitution A C intron_variant SKCA-BR 22 32887150 32887150 single base substitution C T 3_prime_UTR_variant SKCA-BR 22 32887150 32887150 single base substitution C T downstream_gene_variant SKCA-BR 22 32887150 32887150 single base substitution C T exon_variant SKCA-BR 22 32887150 32887150 single base substitution C T synonymous_variant L203L 607C>T SKCA-BR 22 32887150 32887150 single base substitution C T synonymous_variant L238L 712C>T SKCA-BR 22 32887150 32887150 single base substitution C T synonymous_variant L317L 949C>T SKCA-BR 22 32887536 32887536 insertion of <=200bp - GTATA downstream_gene_variant SKCA-BR 22 32887536 32887536 insertion of <=200bp - GTATA exon_variant SKCA-BR 22 32887536 32887536 insertion of <=200bp - GTATA intron_variant SKCA-BR 22 32887579 32887607 deletion of <=200bp TATATTTAGATATATATGTCTATATAGAC - downstream_gene_variant SKCA-BR 22 32887579 32887607 deletion of <=200bp TATATTTAGATATATATGTCTATATAGAC - exon_variant SKCA-BR 22 32887579 32887607 deletion of <=200bp TATATTTAGATATATATGTCTATATAGAC - intron_variant SKCA-BR 22 32887596 32887596 single base substitution G A downstream_gene_variant SKCA-BR 22 32887596 32887596 single base substitution G A exon_variant SKCA-BR 22 32887596 32887596 single base substitution G A intron_variant SKCA-BR 22 32887607 32887607 insertion of <=200bp - CAT downstream_gene_variant SKCA-BR 22 32887607 32887607 insertion of <=200bp - CAT exon_variant SKCA-BR 22 32887607 32887607 insertion of <=200bp - CAT intron_variant SKCA-BR 22 32890204 32890204 single base substitution C T downstream_gene_variant SKCA-BR 22 32890204 32890204 single base substitution C T intron_variant SKCA-BR 22 32891368 32891368 insertion of <=200bp - TTC downstream_gene_variant SKCA-BR 22 32891368 32891368 insertion of <=200bp - TTC intron_variant SKCA-BR 22 32892143 32892143 single base substitution C T intron_variant SKCA-BR 22 32894692 32894692 single base substitution G A 3_prime_UTR_variant SKCA-BR 22 32894692 32894692 single base substitution G A exon_variant SKCA-BR 22 32896500 32896500 single base substitution A T downstream_gene_variant SKCA-BR 22 32896531 32896531 single base substitution C G downstream_gene_variant SKCA-BR 22 32896866 32896866 single base substitution C T downstream_gene_variant SKCA-BR 22 32897469 32897470 deletion of <=200bp CA - downstream_gene_variant SKCA-BR 22 32898749 32898749 single base substitution C T downstream_gene_variant SKCM-US 22 32875101 32875101 single base substitution A G 5_prime_UTR_premature_start_codon_gain_variant SKCM-US 22 32875101 32875101 single base substitution A G exon_variant SKCM-US 22 32875101 32875101 single base substitution A G intron_variant SKCM-US 22 32875101 32875101 single base substitution A G missense_variant N86D 256A>G SKCM-US 22 32880020 32880020 single base substitution C T 3_prime_UTR_variant SKCM-US 22 32880020 32880020 single base substitution C T downstream_gene_variant SKCM-US 22 32880020 32880020 single base substitution C T exon_variant SKCM-US 22 32880020 32880020 single base substitution C T missense_variant T106I 317C>T SKCM-US 22 32880020 32880020 single base substitution C T missense_variant T185I 554C>T SKCM-US 22 32880020 32880020 single base substitution C T missense_variant T71I 212C>T SKCM-US 22 32880020 32880020 single base substitution C T upstream_gene_variant SKCM-US 22 32887122 32887122 single base substitution C G 3_prime_UTR_variant SKCM-US 22 32887122 32887122 single base substitution C G downstream_gene_variant SKCM-US 22 32887122 32887122 single base substitution C G exon_variant SKCM-US 22 32887122 32887122 single base substitution C G synonymous_variant L193L 579C>G SKCM-US 22 32887122 32887122 single base substitution C G synonymous_variant L228L 684C>G SKCM-US 22 32887122 32887122 single base substitution C G synonymous_variant L307L 921C>G SKCM-US 22 32889265 32889265 single base substitution C T 3_prime_UTR_variant SKCM-US 22 32889265 32889265 single base substitution C T downstream_gene_variant SKCM-US 22 32889265 32889265 single base substitution C T exon_variant SKCM-US 22 32889265 32889265 single base substitution C T stop_gained R267* 799C>T SKCM-US 22 32889265 32889265 single base substitution C T stop_gained R302* 904C>T SKCM-US 22 32889265 32889265 single base substitution C T stop_gained R381* 1141C>T SKCM-US 22 32894166 32894166 single base substitution C T 3_prime_UTR_variant SKCM-US 22 32894166 32894166 single base substitution C T exon_variant SKCM-US 22 32894166 32894166 single base substitution C T synonymous_variant S292S 876C>T SKCM-US 22 32894166 32894166 single base substitution C T synonymous_variant S327S 981C>T SKCM-US 22 32894166 32894166 single base substitution C T synonymous_variant S406S 1218C>T SKCM-US 22 32894359 32894359 single base substitution A G 3_prime_UTR_variant SKCM-US 22 32894359 32894359 single base substitution A G exon_variant SKCM-US 22 32894359 32894359 single base substitution A G missense_variant T357A 1069A>G SKCM-US 22 32894359 32894359 single base substitution A G missense_variant T392A 1174A>G SKCM-US 22 32894359 32894359 single base substitution A G missense_variant T471A 1411A>G SKCM-US 22 32894465 32894465 single base substitution C T 3_prime_UTR_variant SKCM-US 22 32894465 32894465 single base substitution C T exon_variant SKCM-US 22 32894465 32894465 single base substitution C T missense_variant P392L 1175C>T SKCM-US 22 32894465 32894465 single base substitution C T missense_variant P427L 1280C>T SKCM-US 22 32894465 32894465 single base substitution C T missense_variant P506L 1517C>T STAD-US 22 32879930 32879930 single base substitution C T 3_prime_UTR_variant STAD-US 22 32879930 32879930 single base substitution C T downstream_gene_variant STAD-US 22 32879930 32879930 single base substitution C T exon_variant STAD-US 22 32879930 32879930 single base substitution C T missense_variant A155V 464C>T STAD-US 22 32879930 32879930 single base substitution C T missense_variant A41V 122C>T STAD-US 22 32879930 32879930 single base substitution C T missense_variant A76V 227C>T STAD-US 22 32879930 32879930 single base substitution C T upstream_gene_variant STAD-US 22 32880008 32880008 single base substitution A C 3_prime_UTR_variant STAD-US 22 32880008 32880008 single base substitution A C downstream_gene_variant STAD-US 22 32880008 32880008 single base substitution A C exon_variant STAD-US 22 32880008 32880008 single base substitution A C missense_variant H102P 305A>C STAD-US 22 32880008 32880008 single base substitution A C missense_variant H181P 542A>C STAD-US 22 32880008 32880008 single base substitution A C missense_variant H67P 200A>C STAD-US 22 32880008 32880008 single base substitution A C upstream_gene_variant STAD-US 22 32881120 32881120 single base substitution G T 3_prime_UTR_variant STAD-US 22 32881120 32881120 single base substitution G T downstream_gene_variant STAD-US 22 32881120 32881120 single base substitution G T exon_variant STAD-US 22 32881120 32881120 single base substitution G T missense_variant Q123H 369G>T STAD-US 22 32881120 32881120 single base substitution G T missense_variant Q158H 474G>T STAD-US 22 32881120 32881120 single base substitution G T missense_variant Q237H 711G>T STAD-US 22 32881120 32881120 single base substitution G T upstream_gene_variant STAD-US 22 32887092 32887092 single base substitution A G 3_prime_UTR_variant STAD-US 22 32887092 32887092 single base substitution A G exon_variant STAD-US 22 32887092 32887092 single base substitution A G missense_variant I183M 549A>G STAD-US 22 32887092 32887092 single base substitution A G missense_variant I218M 654A>G STAD-US 22 32887092 32887092 single base substitution A G missense_variant I297M 891A>G STAD-US 22 32894316 32894316 single base substitution T C 3_prime_UTR_variant STAD-US 22 32894316 32894316 single base substitution T C exon_variant STAD-US 22 32894316 32894316 single base substitution T C synonymous_variant Y342Y 1026T>C STAD-US 22 32894316 32894316 single base substitution T C synonymous_variant Y377Y 1131T>C STAD-US 22 32894316 32894316 single base substitution T C synonymous_variant Y456Y 1368T>C STAD-US 22 32894361 32894361 single base substitution G A 3_prime_UTR_variant STAD-US 22 32894361 32894361 single base substitution G A exon_variant STAD-US 22 32894361 32894361 single base substitution G A synonymous_variant T357T 1071G>A STAD-US 22 32894361 32894361 single base substitution G A synonymous_variant T392T 1176G>A STAD-US 22 32894361 32894361 single base substitution G A synonymous_variant T471T 1413G>A THCA-SA 22 32870806 32870806 single base substitution C T 5_prime_UTR_variant THCA-SA 22 32870806 32870806 single base substitution C T upstream_gene_variant THCA-SA 22 32871230 32871230 single base substitution G T 5_prime_UTR_premature_start_codon_gain_variant THCA-SA 22 32871230 32871230 single base substitution G T intron_variant THCA-SA 22 32871230 32871230 single base substitution G T upstream_gene_variant UCEC-US 22 32875095 32875095 single base substitution G T 5_prime_UTR_variant UCEC-US 22 32875095 32875095 single base substitution G T exon_variant UCEC-US 22 32875095 32875095 single base substitution G T intron_variant UCEC-US 22 32875095 32875095 single base substitution G T missense_variant A84S 250G>T UCEC-US 22 32883771 32883771 single base substitution G T 3_prime_UTR_variant UCEC-US 22 32883771 32883771 single base substitution G T downstream_gene_variant UCEC-US 22 32883771 32883771 single base substitution G T exon_variant UCEC-US 22 32883771 32883771 single base substitution G T missense_variant R162I 485G>T UCEC-US 22 32883771 32883771 single base substitution G T missense_variant R197I 590G>T UCEC-US 22 32883771 32883771 single base substitution G T missense_variant R276I 827G>T UCEC-US 22 32887163 32887163 single base substitution G A 3_prime_UTR_variant UCEC-US 22 32887163 32887163 single base substitution G A downstream_gene_variant UCEC-US 22 32887163 32887163 single base substitution G A exon_variant UCEC-US 22 32887163 32887163 single base substitution G A missense_variant R207Q 620G>A UCEC-US 22 32887163 32887163 single base substitution G A missense_variant R242Q 725G>A UCEC-US 22 32887163 32887163 single base substitution G A missense_variant R321Q 962G>A UCEC-US 22 32889158 32889158 single base substitution G A 3_prime_UTR_variant UCEC-US 22 32889158 32889158 single base substitution G A downstream_gene_variant UCEC-US 22 32889158 32889158 single base substitution G A exon_variant UCEC-US 22 32889158 32889158 single base substitution G A missense_variant R231Q 692G>A UCEC-US 22 32889158 32889158 single base substitution G A missense_variant R266Q 797G>A UCEC-US 22 32889158 32889158 single base substitution G A missense_variant R345Q 1034G>A UCEC-US 22 32889178 32889178 single base substitution G A 3_prime_UTR_variant UCEC-US 22 32889178 32889178 single base substitution G A downstream_gene_variant UCEC-US 22 32889178 32889178 single base substitution G A exon_variant UCEC-US 22 32889178 32889178 single base substitution G A missense_variant V238I 712G>A UCEC-US 22 32889178 32889178 single base substitution G A missense_variant V273I 817G>A UCEC-US 22 32889178 32889178 single base substitution G A missense_variant V352I 1054G>A UCEC-US 22 32891500 32891500 single base substitution G T 3_prime_UTR_variant UCEC-US 22 32891500 32891500 single base substitution G T downstream_gene_variant UCEC-US 22 32891500 32891500 single base substitution G T exon_variant UCEC-US 22 32891500 32891500 single base substitution G T missense_variant D275Y 823G>T UCEC-US 22 32891500 32891500 single base substitution G T missense_variant D310Y 928G>T UCEC-US 22 32891500 32891500 single base substitution G T missense_variant D389Y 1165G>T UCEC-US 22 32894169 32894169 single base substitution G A 3_prime_UTR_variant UCEC-US 22 32894169 32894169 single base substitution G A exon_variant UCEC-US 22 32894169 32894169 single base substitution G A synonymous_variant P293P 879G>A UCEC-US 22 32894169 32894169 single base substitution G A synonymous_variant P328P 984G>A UCEC-US 22 32894169 32894169 single base substitution G A synonymous_variant P407P 1221G>A UCEC-US 22 32894334 32894334 single base substitution T C 3_prime_UTR_variant UCEC-US 22 32894334 32894334 single base substitution T C exon_variant UCEC-US 22 32894334 32894334 single base substitution T C synonymous_variant S348S 1044T>C UCEC-US 22 32894334 32894334 single base substitution T C synonymous_variant S383S 1149T>C UCEC-US 22 32894334 32894334 single base substitution T C synonymous_variant S462S 1386T>C UCEC-US 22 32894389 32894389 single base substitution C T 3_prime_UTR_variant UCEC-US 22 32894389 32894389 single base substitution C T exon_variant UCEC-US 22 32894389 32894389 single base substitution C T missense_variant R367C 1099C>T UCEC-US 22 32894389 32894389 single base substitution C T missense_variant R402C 1204C>T UCEC-US 22 32894389 32894389 single base substitution C T missense_variant R481C 1441C>T UCEC-US 22 32894502 32894502 single base substitution G A 3_prime_UTR_variant UCEC-US 22 32894502 32894502 single base substitution G A exon_variant UCEC-US 22 32894502 32894502 single base substitution G A synonymous_variant R404R 1212G>A UCEC-US 22 32894502 32894502 single base substitution G A synonymous_variant R439R 1317G>A UCEC-US 22 32894502 32894502 single base substitution G A synonymous_variant R518R 1554G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-HU-A4GQ-01 COSM4103721 c.1368T>C p.Y456Y Substitution - coding silent 22:32498329-32498329 + SC_9099 COSM5565682 c.1024C>T p.R342W Substitution - Missense 22:32493161-32493161 + TCGA-D1-A16G-01 COSM1033646 c.652G>T p.E218* Substitution - Nonsense 22:32485074-32485074 + T3099 COSM4684040 c.993G>T p.G331G Substitution - coding silent 22:32493130-32493130 + TCGA-AG-3893-01 COSM288731 c.408C>T p.D136D Substitution - coding silent 22:32479266-32479266 + SNU-175 COSM4650575 c.93G>A p.R31R Substitution - coding silent 22:32475095-32475095 + TCGA-EE-A2A2-06 COSM3553773 c.256A>G p.N86D Substitution - Missense 22:32479114-32479114 + TCGA-D1-A103-01 COSM1033644 c.250G>T p.A84S Substitution - Missense 22:32479108-32479108 + TCGA-18-3409-01 COSM726521 c.1516C>T p.P506S Substitution - Missense 22:32498477-32498477 + Gp5D COSM2939174 c.352G>A p.E118K Substitution - Missense 22:32479210-32479210 + HCC2998 COSM1682230 c.1138T>G p.F380V Substitution - Missense 22:32493275-32493275 + SNU-C2B COSM2939185 c.465G>A p.A155A Substitution - coding silent 22:32483944-32483944 + PT15_1 COSM5898047 c.1318C>T p.P440S Substitution - Missense 22:32498279-32498279 + TCGA-EE-A2MQ-06 COSM3553779 c.921C>G p.L307L Substitution - coding silent 22:32491135-32491135 + SC_9099 COSM5565681 c.1024C>T p.R342W Substitution - Missense 22:32493161-32493161 + BD124T COSM5494197 c.1406G>A p.G469E Substitution - Missense 22:32498367-32498367 + B80-13 COSM1751842 c.999C>T p.V333V Substitution - coding silent 22:32493136-32493136 + PCSI_0100_Pa_P COSM3379324 c.534A>G p.Q178Q Substitution - coding silent 22:32484013-32484013 + TCGA-CS-4943-01 COSM3972935 c.461A>G p.N154S Substitution - Missense 22:32483940-32483940 + YUKAT COSM5393488 c.1225G>A p.G409R Substitution - Missense 22:32498186-32498186 + TCGA-CD-8536-01 COSM4103709 c.464C>T p.A155V Substitution - Missense 22:32483943-32483943 + TCGA-AR-A24T-01 COSM1484188 c.1042G>T p.D348Y Substitution - Missense 22:32493179-32493179 + TCGA-CD-5813-01 COSM4103724 c.1413G>A p.T471T Substitution - coding silent 22:32498374-32498374 + DLD1 COSM4624658 c.1518C>A p.P506P Substitution - coding silent 22:32498479-32498479 + CSCC-7-T COSM4513595 c.944C>A p.P315H Substitution - Missense 22:32491158-32491158 + TCGA-F5-6814-01 COSM3424142 c.704A>C p.K235T Substitution - Missense 22:32485126-32485126 + TCGA-D1-A17Q-01 COSM1033665 c.1221G>A p.P407P Substitution - coding silent 22:32498182-32498182 + CSCC-55-T COSM4544048 c.348G>A p.Q116Q Substitution - coding silent 22:32479206-32479206 + TCGA-D1-A17U-01 COSM1033640 c.134G>A p.R45Q Substitution - Missense 22:32478992-32478992 + TCGA-D1-A16X-01 COSM1033655 c.1034G>A p.R345Q Substitution - Missense 22:32493171-32493171 + TCGA-EI-6509-01 COSM3424140 c.250G>C p.A84P Substitution - Missense 22:32479108-32479108 + 721LT COSM2939163 c.155A>G p.Y52C Substitution - Missense 22:32479013-32479013 + TCGA-DW-5560-01 COSM3992119 c.1007C>A p.P336Q Substitution - Missense 22:32493144-32493144 + TCGA-B7-5816-01 COSM4103718 c.891A>G p.I297M Substitution - Missense 22:32491105-32491105 + 049T COSM1729874 c.515G>T p.S172I Substitution - Missense 22:32483994-32483994 + TCGA-A3-3320-01 COSM1495229 c.418-2A>T p.? Unknown 22:32483895-32483895 + 585270 COSM325334 c.1480A>T p.I494F Substitution - Missense 22:32498441-32498441 + ESO-2472 COSM1252283 c.1341A>C p.E447D Substitution - Missense 22:32498302-32498302 + T3340 COSM4684047 c.1070C>T p.A357V Substitution - Missense 22:32493207-32493207 + ESO-045 COSM1252281 c.217T>C p.L73L Substitution - coding silent 22:32479075-32479075 + T3099 COSM4684041 c.993G>T p.G331G Substitution - coding silent 22:32493130-32493130 + TCGA-AS-3778-01 COSM1495229 c.418-2A>T p.? Unknown 22:32483895-32483895 + TCGA-CS-4943-01 COSM3972936 c.461A>G p.N154S Substitution - Missense 22:32483940-32483940 + HX21T COSM3708226 c.646-9G>T p.? Unknown 22:32485059-32485059 + 587278 COSM1206865 c.247C>A p.P83T Substitution - Missense 22:32479105-32479105 + TCGA-B5-A0JY-01 COSM1033674 c.1554G>A p.R518R Substitution - coding silent 22:32498515-32498515 + AOCS-166-1-2 COSM4137414 c.616C>T p.L206F Substitution - Missense 22:32484095-32484095 + tumor_4131095 COSM5948693 c.818G>A p.S273N Substitution - Missense 22:32487775-32487775 + TCGA-AA-A010-01 COSM281100 c.713A>T p.Y238F Substitution - Missense 22:32485135-32485135 + TCGA-AX-A0J0-01 COSM1033649 c.827G>T p.R276I Substitution - Missense 22:32487784-32487784 + TCGA-BS-A0UV-01 COSM1033652 c.962G>A p.R321Q Substitution - Missense 22:32491176-32491176 + RMS77_ COSM1415958 c.521C>T p.S174L Substitution - Missense 22:32484000-32484000 + TCGA-D1-A16G-01 COSM1033647 c.652G>T p.E218* Substitution - Nonsense 22:32485074-32485074 + TCGA-06-0169 COSM2150286 c.961C>T p.R321* Substitution - Nonsense 22:32491175-32491175 + PD6413a COSM5772105 c.640C>T p.P214S Substitution - Missense 22:32484119-32484119 + B86-Tumor COSM1751835 c.454C>G p.Q152E Substitution - Missense 22:32483933-32483933 + YUCHIME COSM1714310 c.593C>T p.A198V Substitution - Missense 22:32484072-32484072 + TCGA-UB-A7ME-01 COSM4910106 c.730G>C p.E244Q Substitution - Missense 22:32485152-32485152 + GC8_T COSM149284 c.949C>T p.L317L Substitution - coding silent 22:32491163-32491163 + TCGA-A8-A0A6-01 COSM3842560 c.929A>C p.D310A Substitution - Missense 22:32491143-32491143 + YUKAT COSM5393491 c.1283C>T p.P428L Substitution - Missense 22:32498244-32498244 + HX21T COSM3708227 c.646-9G>T p.? Unknown 22:32485059-32485059 + sysucc-783T COSM5484495 c.1492C>T p.R498* Substitution - Nonsense 22:32498453-32498453 + TCGA-D1-A17Q-01 COSM1033664 c.1221G>A p.P407P Substitution - coding silent 22:32498182-32498182 + B98 COSM1751838 c.526G>A p.E176K Substitution - Missense 22:32484005-32484005 + HX17T COSM1616405 c.856T>C p.C286R Substitution - Missense 22:32487813-32487813 + PCSI_0100_Pa_P COSM3379325 c.534A>G p.Q178Q Substitution - coding silent 22:32484013-32484013 + PT15_1 COSM5898046 c.1318C>T p.P440S Substitution - Missense 22:32498279-32498279 + YUKAT COSM5393490 c.1283C>T p.P428L Substitution - Missense 22:32498244-32498244 + YUCHIME COSM1714309 c.593C>T p.A198V Substitution - Missense 22:32484072-32484072 + TCGA-CD-8536-01 COSM4103708 c.464C>T p.A155V Substitution - Missense 22:32483943-32483943 + T2269 COSM4684044 c.1053C>T p.S351S Substitution - coding silent 22:32493190-32493190 + HN_62921 COSM123127 c.1533G>T p.R511S Substitution - Missense 22:32498494-32498494 + LUAD-NYU696 COSM376065 c.191C>A p.A64D Substitution - Missense 22:32479049-32479049 + TCGA-EI-6509-01 COSM3424139 c.250G>C p.A84P Substitution - Missense 22:32479108-32479108 + TCGA-A5-A0VP-01 COSM1033667 c.1386T>C p.S462S Substitution - coding silent 22:32498347-32498347 + Pat_14_B COSM5859248 c.1287delG p.L429fs*50 Deletion - Frameshift 22:32498248-32498248 + TCGA-18-3409-01 COSM726520 c.1516C>T p.P506S Substitution - Missense 22:32498477-32498477 + TCGA-A3-3320-01 COSM1495230 c.418-2A>T p.? Unknown 22:32483895-32483895 + CSCC-31-T COSM4568796 c.1320T>A p.P440P Substitution - coding silent 22:32498281-32498281 + CHC1035T COSM3668596 c.495C>G p.P165P Substitution - coding silent 22:32483974-32483974 + TCGA-AS-3778-01 COSM1495230 c.418-2A>T p.? Unknown 22:32483895-32483895 + TCGA-66-2787-01 COSM726522 c.970C>G p.L324V Substitution - Missense 22:32493107-32493107 + TCGA-CA-6717-01 COSM1415957 c.521C>T p.S174L Substitution - Missense 22:32484000-32484000 + B86 COSM1751836 c.454C>G p.Q152E Substitution - Missense 22:32483933-32483933 + TCGA-AG-3893-01 COSM288732 c.408C>T p.D136D Substitution - coding silent 22:32479266-32479266 + HCC2998 COSM1682229 c.1138T>G p.F380V Substitution - Missense 22:32493275-32493275 + AOCS-166-1-2 COSM4137413 c.616C>T p.L206F Substitution - Missense 22:32484095-32484095 + H441 COSM1193602 c.730G>A p.E244K Substitution - Missense 22:32485152-32485152 + S02355 COSM1751842 c.999C>T p.V333V Substitution - coding silent 22:32493136-32493136 + PD6413a COSM5772106 c.640C>T p.P214S Substitution - Missense 22:32484119-32484119 + TCGA-09-1674-01 COSM1327257 c.406G>T p.D136Y Substitution - Missense 22:32479264-32479264 + H441 COSM1193601 c.730G>A p.E244K Substitution - Missense 22:32485152-32485152 + TCGA-C8-A3M7-01 COSM3842564 c.1171G>C p.D391H Substitution - Missense 22:32495519-32495519 + TCGA-D1-A17U-01 COSM1033641 c.134G>A p.R45Q Substitution - Missense 22:32478992-32478992 + TCGA-HU-A4GQ-01 COSM4103720 c.1368T>C p.Y456Y Substitution - coding silent 22:32498329-32498329 + T3340 COSM4684046 c.1070C>T p.A357V Substitution - Missense 22:32493207-32493207 + PT49 COSM5936705 c.1144+8C>T p.? Unknown 22:32493289-32493289 + TCGA-BR-4280-01 COSM4103712 c.542A>C p.H181P Substitution - Missense 22:32484021-32484021 + TCGA-CD-5804-01 COSM4103715 c.711G>T p.Q237H Substitution - Missense 22:32485133-32485133 + B86-Tumor COSM1751836 c.454C>G p.Q152E Substitution - Missense 22:32483933-32483933 + TCGA-D1-A16X-01 COSM1033656 c.1034G>A p.R345Q Substitution - Missense 22:32493171-32493171 + TCGA-A5-A0VP-01 COSM1033668 c.1386T>C p.S462S Substitution - coding silent 22:32498347-32498347 + B98 COSM1751839 c.526G>A p.E176K Substitution - Missense 22:32484005-32484005 + TCGA-A8-A0A6-01 COSM3842567 c.1289A>C p.H430P Substitution - Missense 22:32498250-32498250 + TCGA-EE-A3AG-06 COSM3553785 c.1218C>T p.S406S Substitution - coding silent 22:32498179-32498179 + HCC2998 COSM1682229 c.1138T>G p.F380V Substitution - Missense 22:32493275-32493275 + TCGA-A8-A0A6-01 COSM3842566 c.1289A>C p.H430P Substitution - Missense 22:32498250-32498250 + TCGA-D8-A1XR-01 COSM1484186 c.997G>C p.V333L Substitution - Missense 22:32493134-32493134 + CHC2216T COSM4805902 c.1343A>G p.Y448C Substitution - Missense 22:32498304-32498304 + TCGA-BG-A18B-01 COSM1033658 c.1054G>A p.V352I Substitution - Missense 22:32493191-32493191 + TCGA-B5-A0JY-01 COSM1033673 c.1554G>A p.R518R Substitution - coding silent 22:32498515-32498515 + HX17T COSM1616404 c.856T>C p.C286R Substitution - Missense 22:32487813-32487813 + TCGA-EE-A3AC-06 COSM3553791 c.1517C>T p.P506L Substitution - Missense 22:32498478-32498478 + TCGA-AR-A24T-01 COSM1484189 c.1042G>T p.D348Y Substitution - Missense 22:32493179-32493179 + TCGA-AM-5820-01 COSM3759154 c.345G>A p.M115I Substitution - Missense 22:32479203-32479203 + Gp2D COSM2939174 c.352G>A p.E118K Substitution - Missense 22:32479210-32479210 + T1764 COSM4684049 c.1251G>A p.S417S Substitution - coding silent 22:32498212-32498212 + TCGA-EE-A2MR-06 COSM3553782 c.1141C>T p.R381* Substitution - Nonsense 22:32493278-32493278 + TCGA-DW-5560-01 COSM3992120 c.1007C>A p.P336Q Substitution - Missense 22:32493144-32493144 + T578 COSM4684037 c.760C>T p.P254S Substitution - Missense 22:32485182-32485182 + TCGA-EE-A3AG-06 COSM3553784 c.1218C>T p.S406S Substitution - coding silent 22:32498179-32498179 + TCGA-B7-5816-01 COSM4103717 c.891A>G p.I297M Substitution - Missense 22:32491105-32491105 + CSCC-31-T COSM4568797 c.1320T>A p.P440P Substitution - coding silent 22:32498281-32498281 + pfg160T COSM4752357 c.1519T>C p.F507L Substitution - Missense 22:32498480-32498480 + TCGA-B6-A0I9-01 COSM444917 c.675G>A p.P225P Substitution - coding silent 22:32485097-32485097 + TCGA-CA-6717-01 COSM1415958 c.521C>T p.S174L Substitution - Missense 22:32484000-32484000 + YUKAT COSM5393484 c.711G>A p.Q237Q Substitution - coding silent 22:32485133-32485133 + Pat_41_B COSM5772105 c.640C>T p.P214S Substitution - Missense 22:32484119-32484119 + TCGA-AX-A05Z-01 COSM1033662 c.1165G>T p.D389Y Substitution - Missense 22:32495513-32495513 + CSCC-55-T COSM4544049 c.348G>A p.Q116Q Substitution - coding silent 22:32479206-32479206 + TCGA-A8-A0A6-01 COSM3842561 c.929A>C p.D310A Substitution - Missense 22:32491143-32491143 + PT39 COSM5923481 c.1183C>T p.L395L Substitution - coding silent 22:32498144-32498144 + SNU-C2B COSM2939186 c.465G>A p.A155A Substitution - coding silent 22:32483944-32483944 + TCGA-AM-5820-01 COSM3759153 c.345G>A p.M115I Substitution - Missense 22:32479203-32479203 + 585270 COSM325333 c.1480A>T p.I494F Substitution - Missense 22:32498441-32498441 + tumor_4131095 COSM5948694 c.818G>A p.S273N Substitution - Missense 22:32487775-32487775 + OSCC-GB_00920111 COSM4881735 c.36G>A p.W12* Substitution - Nonsense 22:32475038-32475038 + B80-13 COSM1751841 c.999C>T p.V333V Substitution - coding silent 22:32493136-32493136 + sysucc-1397T COSM5474418 c.966A>C p.Q322H Substitution - Missense 22:32491180-32491180 + 587278 COSM1206864 c.247C>A p.P83T Substitution - Missense 22:32479105-32479105 + CHC1035T COSM3668596 c.495C>G p.P165P Substitution - coding silent 22:32483974-32483974 + TCGA-BS-A0UV-01 COSM1033653 c.962G>A p.R321Q Substitution - Missense 22:32491176-32491176 + 90468 COSM330402 c.541C>A p.H181N Substitution - Missense 22:32484020-32484020 + B86 COSM1751835 c.454C>G p.Q152E Substitution - Missense 22:32483933-32483933 + CSCC-7-T COSM4513596 c.944C>A p.P315H Substitution - Missense 22:32491158-32491158 + T2269 COSM4684043 c.1053C>T p.S351S Substitution - coding silent 22:32493190-32493190 + TCGA-B0-4823-01 COSM478912 c.356A>C p.Q119P Substitution - Missense 22:32479214-32479214 + TCGA-CD-5804-01 COSM4103714 c.711G>T p.Q237H Substitution - Missense 22:32485133-32485133 + pfg160T COSM4752356 c.1519T>C p.F507L Substitution - Missense 22:32498480-32498480 + CHC2216T COSM4805903 c.1343A>G p.Y448C Substitution - Missense 22:32498304-32498304 + TCGA-BL-A0C8-01 COSM419581 c.1131G>A p.L377L Substitution - coding silent 22:32493268-32493268 + T2940 COSM4684035 c.739T>C p.S247P Substitution - Missense 22:32485161-32485161 + TCGA-AK-3447-01 COSM1495229 c.418-2A>T p.? Unknown 22:32483895-32483895 + 049T COSM1729873 c.515G>T p.S172I Substitution - Missense 22:32483994-32483994 + sysucc-1397T COSM5474417 c.966A>C p.Q322H Substitution - Missense 22:32491180-32491180 + B98-Tumor COSM1751839 c.526G>A p.E176K Substitution - Missense 22:32484005-32484005 + SNU-175 COSM4650576 c.93G>A p.R31R Substitution - coding silent 22:32475095-32475095 + TCGA-AM-5820-01 COSM149284 c.949C>T p.L317L Substitution - coding silent 22:32491163-32491163 + T1764 COSM4684050 c.1251G>A p.S417S Substitution - coding silent 22:32498212-32498212 + 721LT COSM2939164 c.155A>G p.Y52C Substitution - Missense 22:32479013-32479013 + YUPTER COSM5393494 c.1387T>C p.S463P Substitution - Missense 22:32498348-32498348 + TCGA-GN-A266-06 COSM3553776 c.554C>T p.T185I Substitution - Missense 22:32484033-32484033 + TCGA-66-2787-01 COSM726523 c.970C>G p.L324V Substitution - Missense 22:32493107-32493107 + ESO-045 COSM1252282 c.217T>C p.L73L Substitution - coding silent 22:32479075-32479075 + TCGA-B6-A0I9-01 COSM444918 c.675G>A p.P225P Substitution - coding silent 22:32485097-32485097 + LUAD-CHTN-MAD06-00668 COSM359755 c.765G>T p.L255F Substitution - Missense 22:32485187-32485187 + PT39 COSM5923480 c.1183C>T p.L395L Substitution - coding silent 22:32498144-32498144 + TCGA-GN-A266-06 COSM3553775 c.554C>T p.T185I Substitution - Missense 22:32484033-32484033 + CHC2216T COSM4805902 c.1343A>G p.Y448C Substitution - Missense 22:32498304-32498304 + B98-Tumor COSM1751838 c.526G>A p.E176K Substitution - Missense 22:32484005-32484005 + 3N08-VS-3T08 COSM4979057 c.537G>A p.V179V Substitution - coding silent 22:32484016-32484016 + B80-13-Tumor COSM1751841 c.999C>T p.V333V Substitution - coding silent 22:32493136-32493136 + TCGA-AX-A05Z-01 COSM1033661 c.1165G>T p.D389Y Substitution - Missense 22:32495513-32495513 + TCGA-06-0169-01 COSM2150286 c.961C>T p.R321* Substitution - Nonsense 22:32491175-32491175 + CHC1035T COSM3668597 c.495C>G p.P165P Substitution - coding silent 22:32483974-32483974 + DLD1 COSM4624657 c.1518C>A p.P506P Substitution - coding silent 22:32498479-32498479 + OSCC-GB_01390111 COSM5954453 c.377G>A p.G126E Substitution - Missense 22:32479235-32479235 + LUAD-CHTN-MAD06-00668 COSM359754 c.765G>T p.L255F Substitution - Missense 22:32485187-32485187 + AOCS-133-1-9 COSM4137410 c.364G>A p.D122N Substitution - Missense 22:32479222-32479222 + OSCC-GB_00920111 COSM4881734 c.36G>A p.W12* Substitution - Nonsense 22:32475038-32475038 + TCGA-AM-5820-01 COSM3759156 c.949C>T p.L317L Substitution - coding silent 22:32491163-32491163 + S02355 COSM1751841 c.999C>T p.V333V Substitution - coding silent 22:32493136-32493136 + Gp2D COSM2939173 c.352G>A p.E118K Substitution - Missense 22:32479210-32479210 + TCGA-D1-A17H-01 COSM1033671 c.1441C>T p.R481C Substitution - Missense 22:32498402-32498402 + TCGA-06-0169-01 COSM2150285 c.961C>T p.R321* Substitution - Nonsense 22:32491175-32491175 + TCGA-EE-A3J5-06 COSM3553788 c.1411A>G p.T471A Substitution - Missense 22:32498372-32498372 + RK067_C01 COSM1632576 c.1263C>T p.T421T Substitution - coding silent 22:32498224-32498224 + sysucc-783T COSM5484496 c.1492C>T p.R498* Substitution - Nonsense 22:32498453-32498453 + TCGA-AA-A010-01 COSM281103 c.848C>A p.S283Y Substitution - Missense 22:32487805-32487805 + TCGA-06-0169 COSM2150285 c.961C>T p.R321* Substitution - Nonsense 22:32491175-32491175 + TCGA-BG-A18B-01 COSM1033659 c.1054G>A p.V352I Substitution - Missense 22:32493191-32493191 + TCGA-09-1674-01 COSM1327258 c.406G>T p.D136Y Substitution - Missense 22:32479264-32479264 + TCGA-B0-4823-01 COSM478913 c.356A>C p.Q119P Substitution - Missense 22:32479214-32479214 + AOCS-133-1-9 COSM4137411 c.364G>A p.D122N Substitution - Missense 22:32479222-32479222 + TCGA-D1-A103-01 COSM1033643 c.250G>T p.A84S Substitution - Missense 22:32479108-32479108 + TCGA-EE-A3AC-06 COSM3553790 c.1517C>T p.P506L Substitution - Missense 22:32498478-32498478 + RK067_C01 COSM1632577 c.1263C>T p.T421T Substitution - coding silent 22:32498224-32498224 + TCGA-D1-A17H-01 COSM1033670 c.1441C>T p.R481C Substitution - Missense 22:32498402-32498402 + T578 COSM4684038 c.760C>T p.P254S Substitution - Missense 22:32485182-32485182 + TCGA-AA-A010-01 COSM281102 c.848C>A p.S283Y Substitution - Missense 22:32487805-32487805 + Pat_41_B COSM5772106 c.640C>T p.P214S Substitution - Missense 22:32484119-32484119 + TCGA-EE-A2MR-06 COSM3553781 c.1141C>T p.R381* Substitution - Nonsense 22:32493278-32493278 + TCGA-BR-4280-01 COSM4103711 c.542A>C p.H181P Substitution - Missense 22:32484021-32484021 + TCGA-CD-5813-01 COSM4103723 c.1413G>A p.T471T Substitution - coding silent 22:32498374-32498374 + CHC2216T COSM4805903 c.1343A>G p.Y448C Substitution - Missense 22:32498304-32498304 + YUPTER COSM5393493 c.1387T>C p.S463P Substitution - Missense 22:32498348-32498348 + B80-13-Tumor COSM1751842 c.999C>T p.V333V Substitution - coding silent 22:32493136-32493136 + TCGA-C8-A3M7-01 COSM3842563 c.1171G>C p.D391H Substitution - Missense 22:32495519-32495519 + TCGA-F5-6814-01 COSM3424141 c.704A>C p.K235T Substitution - Missense 22:32485126-32485126 + ESO-2472 COSM1252284 c.1341A>C p.E447D Substitution - Missense 22:32498302-32498302 + TCGA-24-1469-01 COSM74635 c.650C>T p.T217I Substitution - Missense 22:32485072-32485072 + YUKAT COSM5393485 c.711G>A p.Q237Q Substitution - coding silent 22:32485133-32485133 + T3658 COSM4684031 c.688T>C p.L230L Substitution - coding silent 22:32485110-32485110 + Pat_14_B COSM5859249 c.1287delG p.L429fs*50 Deletion - Frameshift 22:32498248-32498248 + TCGA-EE-A3J5-06 COSM3553787 c.1411A>G p.T471A Substitution - Missense 22:32498372-32498372 + OSCC-GB_01390111 COSM5954452 c.377G>A p.G126E Substitution - Missense 22:32479235-32479235 + TCGA-EE-A2A2-06 COSM3553774 c.256A>G p.N86D Substitution - Missense 22:32479114-32479114 + TCGA-UB-A7ME-01 COSM4910105 c.730G>C p.E244Q Substitution - Missense 22:32485152-32485152 + CHC1035T COSM3668597 c.495C>G p.P165P Substitution - coding silent 22:32483974-32483974 + LUAD-NYU696 COSM376066 c.191C>A p.A64D Substitution - Missense 22:32479049-32479049 + TCGA-D8-A1XR-01 COSM1484185 c.997G>C p.V333L Substitution - Missense 22:32493134-32493134 + TCGA-EE-A2MQ-06 COSM3553778 c.921C>G p.L307L Substitution - coding silent 22:32491135-32491135 + T3658 COSM4684032 c.688T>C p.L230L Substitution - coding silent 22:32485110-32485110 + TCGA-AA-A010-01 COSM281101 c.713A>T p.Y238F Substitution - Missense 22:32485135-32485135 + PT49 COSM5936704 c.1144+8C>T p.? Unknown 22:32493289-32493289 + 90468 COSM330403 c.541C>A p.H181N Substitution - Missense 22:32484020-32484020 + TCGA-BL-A0C8-01 COSM419580 c.1131G>A p.L377L Substitution - coding silent 22:32493268-32493268 + RMS77_ COSM1415957 c.521C>T p.S174L Substitution - Missense 22:32484000-32484000 + TCGA-AX-A0J0-01 COSM1033650 c.827G>T p.R276I Substitution - Missense 22:32487784-32487784 + BD124T COSM5494196 c.1406G>A p.G469E Substitution - Missense 22:32498367-32498367 + Gp5D COSM2939173 c.352G>A p.E118K Substitution - Missense 22:32479210-32479210 + HCC2998 COSM1682230 c.1138T>G p.F380V Substitution - Missense 22:32493275-32493275 + TCGA-AK-3447-01 COSM1495230 c.418-2A>T p.? Unknown 22:32483895-32483895 + T2940 COSM4684034 c.739T>C p.S247P Substitution - Missense 22:32485161-32485161 + YUKAT COSM5393487 c.1225G>A p.G409R Substitution - Missense 22:32498186-32498186 + 3N08-VS-3T08 COSM4979058 c.537G>A p.V179V Substitution - coding silent 22:32484016-32484016 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.5912 22q12-q13 605648 2389903|CGAP|BC008361|A/G|coding|Ile115Met|624|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.E447D c.1341A>C 22 32894289 ESCA A C Missense p.H181P c.542A>C 22 32880008 STAD A C Missense p.Q119P c.356A>C 22 32875201 RCCC A G IntronicSNV . c.872-878A>G 22 32886195 HC A G IntronicSNV . c.968-213A>G 22 32888879 HC A G Missense p.I297M c.891A>G 22 32887092 STAD A G Missense p.N154S c.461A>G 22 32879927 LGG A G Missense p.N86D c.256A>G 22 32875101 CM A G Missense p.T471A c.1411A>G 22 32894359 CM A G Synonymous p.V329V c.987A>G 22 32889111 HNSC AT - Frameshift p.Y448*fs*1 c.1343_1344delAT 22 32894289 RCCC A T Missense p.I494F c.1480A>T 22 32894428 SCLC C A Missense p.P407T c.1219C>A 22 32894167 STAD C A Missense p.T384N c.1151C>A 22 32891486 CM C G Missense p.L324V c.970C>G 22 32889094 LUSC C G Missense p.P431R c.1292C>G 22 32894240 CM C G Synonymous p.L307L c.921C>G 22 32887122 CM C T IntronicSNV . c.871+21C>T 22 32883836 ESCA C T Missense p.P455L c.1364C>T 22 32894312 CM C T Missense p.P506L c.1517C>T 22 32894465 CM C T Missense p.R481C c.1441C>T 22 32894389 UCEC C T Missense p.T217I c.650C>T 22 32881059 OV C T Missense p.T421I c.1262C>T 22 32894210 CM C T Nonsense p.R321* c.961C>T 22 32887162 GBM C T Synonymous p.D136D c.408C>T 22 32875253 COREAD C T Synonymous p.S406S c.1218C>T 22 32894166 CM C T Synonymous p.T421T c.1263C>T 22 32894211 HC G A Missense p.E338K c.1012G>A 22 32889136 CM G A Missense p.V352I c.1054G>A 22 32889178 UCEC G A Synonymous p.L377L c.1131G>A 22 32889255 BLCA G A Synonymous p.P225P c.675G>A 22 32881084 BRCA G A Synonymous p.P407P c.1221G>A 22 32894169 HNSC G A Synonymous p.T471T c.1413G>A 22 32894361 STAD G C Missense p.V333L c.997G>C 22 32889121 BRCA G C Synonymous p.A357A c.1071G>C 22 32889195 HNSC G T Missense p.D348Y c.1042G>T 22 32889166 BRCA G T Missense p.R432S c.1296G>T 22 32894244 CM G T Missense p.R511S c.1533G>T 22 32894481 HNSC G T SpliceAcceptorSNV . c.872-1G>T 22 32887072 STAD T C IntronicSNV . c.872-48T>C 22 32887025 ESCA T C Synonymous p.L73L c.217T>C 22 32875062 ESCA T C Synonymous p.S462S c.1386T>C 22 32894334 UCEC