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 BLCA 2 234173758 234173758 + Missense_Mutation SNP C C T TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr2:234173758C>T c.610C>T c.(610-612)Cgg>Tgg p.R204W BLCA 2 234178697 234178697 + Missense_Mutation SNP C C T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 g.chr2:234178697C>T c.691C>T c.(691-693)Cct>Tct p.P231S BLCA 2 234183394 234183394 + Silent SNP G G T TCGA-CF-A3MH-01A-11D-A20D-08 TCGA-CF-A3MH-10A-01D-A20D-08 g.chr2:234183394G>T c.924G>T c.(922-924)gtG>gtT p.V308V BLCA 2 234191385 234191385 + Missense_Mutation SNP G G A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 g.chr2:234191385G>A c.1189G>A c.(1189-1191)Gat>Aat p.D397N BLCA 2 234198934 234198934 + Silent SNP T T C TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 g.chr2:234198934T>C c.1365T>C c.(1363-1365)atT>atC p.I455I BLCA 2 234200868 234200868 + Missense_Mutation SNP G G A TCGA-E7-A7DV-01A-11D-A339-08 TCGA-E7-A7DV-10A-01D-A339-08 g.chr2:234200868G>A c.1525G>A c.(1525-1527)Gat>Aat p.D509N BRCA 2 234164823 234164823 + Missense_Mutation SNP C C T TCGA-C8-A12Z-01A-11D-A10Y-09 TCGA-C8-A12Z-10A-01D-A110-09 g.chr2:234164823C>T c.191C>T c.(190-192)cCa>cTa p.P64L BRCA 2 234171846 234171846 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 g.chr2:234171846G>C c.280G>C c.(280-282)Gag>Cag p.E94Q BRCA 2 234172686 234172686 + Missense_Mutation SNP A A T TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 g.chr2:234172686A>T c.364A>T c.(364-366)Agg>Tgg p.R122W BRCA 2 234182378 234182378 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 g.chr2:234182378C>T c.806C>T c.(805-807)tCg>tTg p.S269L BRCA 2 234198929 234198929 + Missense_Mutation SNP G G A TCGA-GM-A2DI-01A-31D-A18P-09 TCGA-GM-A2DI-11A-13D-A18P-09 g.chr2:234198929G>A c.1360G>A c.(1360-1362)Gat>Aat p.D454N BRCA 2 234201045 234201045 + Missense_Mutation SNP C C G TCGA-EW-A1PD-01A-11D-A142-09 TCGA-EW-A1PD-10A-01D-A142-09 g.chr2:234201045C>G c.1593C>G c.(1591-1593)ttC>ttG p.F531L BRCA 2 234201936 234201936 + Missense_Mutation SNP G G A TCGA-BH-A0C1-01B-11D-A12B-09 TCGA-BH-A0C1-10A-01D-A12B-09 g.chr2:234201936G>A c.1663G>A c.(1663-1665)Gag>Aag p.E555K CHOL 2 234164841 234164841 + Splice_Site SNP G G T TCGA-W5-AA2W-01A-11D-A417-09 TCGA-W5-AA2W-10A-01D-A41A-09 g.chr2:234164841G>T c.209G>T c.(208-210)aGt>aTt p.S70I CHOL 2 234189793 234189793 + Missense_Mutation SNP G G T TCGA-W5-AA2Q-01A-11D-A417-09 TCGA-W5-AA2Q-10A-01D-A41A-09 g.chr2:234189793G>T c.1103G>T c.(1102-1104)gGa>gTa p.G368V CHOL 2 234191392 234191392 + Missense_Mutation SNP G G T TCGA-W5-AA2H-01A-31D-A417-09 TCGA-W5-AA2H-10A-01D-A41A-09 g.chr2:234191392G>T c.1196G>T c.(1195-1197)cGa>cTa p.R399L COAD 2 234172709 234172709 + Silent SNP A A G TCGA-AA-3833-01A-01W-0900-09 TCGA-AA-3833-10A-01W-0900-09 g.chr2:234172709A>G c.387A>G c.(385-387)gcA>gcG p.A129A COAD 2 234189798 234189798 + Missense_Mutation SNP A A G TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr2:234189798A>G c.1108A>G c.(1108-1110)Aca>Gca p.T370A COAD 2 234198983 234198983 + Missense_Mutation SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr2:234198983C>T c.1414C>T c.(1414-1416)Cgt>Tgt p.R472C COAD 2 234198998 234198998 + Splice_Site SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr2:234198998C>T c.1429C>T c.(1429-1431)Cga>Tga p.R477* COAD 2 234198998 234198998 + Splice_Site SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr2:234198998C>T c.1429C>T c.(1429-1431)Cga>Tga p.R477* COADREAD 2 234172709 234172709 + Silent SNP A A G TCGA-AA-3833-01A-01W-0900-09 TCGA-AA-3833-10A-01W-0900-09 g.chr2:234172709A>G c.387A>G c.(385-387)gcA>gcG p.A129A COADREAD 2 234189798 234189798 + Missense_Mutation SNP A A G TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr2:234189798A>G c.1108A>G c.(1108-1110)Aca>Gca p.T370A COADREAD 2 234198609 234198609 + Missense_Mutation SNP G G A TCGA-AG-A008-01A-01W-A005-10 TCGA-AG-A008-10A-01W-A005-10 g.chr2:234198609G>A c.1313G>A c.(1312-1314)cGc>cAc p.R438H COADREAD 2 234198983 234198983 + Missense_Mutation SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr2:234198983C>T c.1414C>T c.(1414-1416)Cgt>Tgt p.R472C COADREAD 2 234198998 234198998 + Splice_Site SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr2:234198998C>T c.1429C>T c.(1429-1431)Cga>Tga p.R477* COADREAD 2 234198998 234198998 + Splice_Site SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr2:234198998C>T c.1429C>T c.(1429-1431)Cga>Tga p.R477* GBMLGG 2 234201038 234201038 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:234201038C>A c.1586C>A c.(1585-1587)cCt>cAt p.P529H GBMLGG 2 234201945 234201945 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:234201945C>A c.1672C>A c.(1672-1674)Ctg>Atg p.L558M HNSC 2 234171780 234171780 + Missense_Mutation SNP G G A TCGA-BB-4225-01A-01D-1434-08 TCGA-BB-4225-10A-01D-1434-08 g.chr2:234171780G>A c.214G>A c.(214-216)Gga>Aga p.G72R HNSC 2 234171780 234171780 + Missense_Mutation SNP G G C TCGA-UF-A7JT-01A-11D-A34J-08 TCGA-UF-A7JT-10A-01D-A34M-08 g.chr2:234171780G>C c.214G>C c.(214-216)Gga>Cga p.G72R HNSC 2 234186223 234186223 + Missense_Mutation SNP G G A TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 g.chr2:234186223G>A c.964G>A c.(964-966)Gat>Aat p.D322N HNSC 2 234198586 234198586 + Silent SNP G G A TCGA-HD-7832-01A-11D-2129-08 TCGA-HD-7832-10A-01D-2129-08 g.chr2:234198586G>A c.1290G>A c.(1288-1290)cgG>cgA p.R430R HNSC 2 234202923 234202923 + Missense_Mutation SNP C C T TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 g.chr2:234202923C>T c.1751C>T c.(1750-1752)gCg>gTg p.A584V KIPAN 2 234173559 234173559 + Silent SNP T T C TCGA-DW-7842-01A-11D-2136-08 TCGA-DW-7842-10A-01D-2136-08 g.chr2:234173559T>C c.411T>C c.(409-411)acT>acC p.T137T KIPAN 2 234178666 234178666 + Silent SNP G G T TCGA-BP-5001-01A-01D-1462-08 TCGA-BP-5001-11A-01D-1462-08 g.chr2:234178666G>T c.660G>T c.(658-660)ctG>ctT p.L220L KIRC 2 234178666 234178666 + Silent SNP G G T TCGA-BP-5001-01A-01D-1462-08 TCGA-BP-5001-11A-01D-1462-08 g.chr2:234178666G>T c.660G>T c.(658-660)ctG>ctT p.L220L KIRP 2 234173559 234173559 + Silent SNP T T C TCGA-DW-7842-01A-11D-2136-08 TCGA-DW-7842-10A-01D-2136-08 g.chr2:234173559T>C c.411T>C c.(409-411)acT>acC p.T137T LAML 2 234172658 234172658 + Silent SNP C C T TCGA-AB-3002-03A-01D-0739-09 TCGA-AB-3002-11A-01D-0739-09 g.chr2:234172658C>T c.336C>T c.(334-336)gaC>gaT p.D112D LAML 2 234201946 234201946 + Missense_Mutation SNP T T A TCGA-AB-2821-03B-01W-0728-08 TCGA-AB-2821-11B-01W-0728-08 g.chr2:234201946T>A c.1673T>A c.(1672-1674)cTg>cAg p.L558Q LGG 2 234201038 234201038 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:234201038C>A c.1586C>A c.(1585-1587)cCt>cAt p.P529H LGG 2 234201945 234201945 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:234201945C>A c.1672C>A c.(1672-1674)Ctg>Atg p.L558M LIHC 2 234171807 234171807 + Missense_Mutation SNP C C G TCGA-DD-A3A4-01A-11D-A22F-10 TCGA-DD-A3A4-11A-11D-A22F-10 g.chr2:234171807C>G c.241C>G c.(241-243)Cag>Gag p.Q81E LIHC 2 234173607 234173607 + Silent SNP T T C TCGA-5R-AAAM-01A-12D-A40R-10 TCGA-5R-AAAM-10A-01D-A40U-10 g.chr2:234173607T>C c.459T>C c.(457-459)tgT>tgC p.C153C LIHC 2 234178690 234178690 + Frame_Shift_Del DEL A A - TCGA-G3-A3CJ-01A-11D-A20W-10 TCGA-G3-A3CJ-10A-01D-A20W-10 g.chr2:234178690delA c.684delA c.(682-684)gcafs p.A228fs LIHC 2 234198547 234198548 + Frame_Shift_Ins INS - - C TCGA-RC-A7S9-01A-11D-A33Q-10 TCGA-RC-A7S9-10A-02D-A33Q-10 g.chr2:234198547_234198548insC c.1251_1252insC c.(1252-1254)ctgfs p.L418fs LUAD 2 234172699 234172699 + Missense_Mutation SNP T T A TCGA-86-8054-01A-11D-2238-08 TCGA-86-8054-10A-01D-2238-08 g.chr2:234172699T>A c.377T>A c.(376-378)aTg>aAg p.M126K LUAD 2 234173588 234173588 + Missense_Mutation SNP A A G TCGA-MP-A4SW-01A-21D-A24P-08 TCGA-MP-A4SW-10A-01D-A24P-08 g.chr2:234173588A>G c.440A>G c.(439-441)gAc>gGc p.D147G LUAD 2 234178672 234178672 + Missense_Mutation SNP A A T TCGA-53-7813-01A-11D-2167-08 TCGA-53-7813-10A-01D-2167-08 g.chr2:234178672A>T c.666A>T c.(664-666)aaA>aaT p.K222N LUAD 2 234181620 234181620 + Missense_Mutation SNP A A T TCGA-62-A46O-01A-11D-A24D-08 TCGA-62-A46O-10A-01D-A24F-08 g.chr2:234181620A>T c.716A>T c.(715-717)gAc>gTc p.D239V LUAD 2 234186221 234186221 + Missense_Mutation SNP A A T TCGA-17-Z045-01A-01W-0746-08 TCGA-17-Z045-11A-01W-0747-08 g.chr2:234186221A>T c.962A>T c.(961-963)cAt>cTt p.H321L LUAD 2 234191392 234191392 + Missense_Mutation SNP G G C TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 g.chr2:234191392G>C c.1196G>C c.(1195-1197)cGa>cCa p.R399P LUAD 2 234200813 234200813 + Missense_Mutation SNP G G C TCGA-99-8032-01A-11D-2238-08 TCGA-99-8032-10A-01D-2238-08 g.chr2:234200813G>C c.1470G>C c.(1468-1470)aaG>aaC p.K490N LUAD 2 234200895 234200895 + Nonsense_Mutation SNP C C T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 g.chr2:234200895C>T c.1552C>T c.(1552-1554)Cga>Tga p.R518* LUSC 2 234178666 234178666 + Silent SNP G G T TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 g.chr2:234178666G>T c.660G>T c.(658-660)ctG>ctT p.L220L LUSC 2 234198998 234198998 + Splice_Site SNP C C A TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 g.chr2:234198998C>A c.1429C>A c.(1429-1431)Cga>Aga p.R477R LUSC 2 234202917 234202917 + Missense_Mutation SNP C C A TCGA-66-2744-01A-01D-0983-08 TCGA-66-2744-11A-01D-0983-08 g.chr2:234202917C>A c.1745C>A c.(1744-1746)gCg>gAg p.A582E PAAD 2 234182379 234182379 + Silent SNP G G A TCGA-FZ-5923-01A-12D-1609-08 TCGA-FZ-5923-11A-01D-1609-08 g.chr2:234182379G>A c.807G>A c.(805-807)tcG>tcA p.S269S PRAD 2 234173549 234173549 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr2:234173549G>A c.401G>A c.(400-402)tGt>tAt p.C134Y PRAD 2 234178654 234178654 + Silent SNP G G A TCGA-HC-A6AN-01A-11D-A30E-08 TCGA-HC-A6AN-10A-01D-A30H-08 g.chr2:234178654G>A c.648G>A c.(646-648)cgG>cgA p.R216R READ 2 234198609 234198609 + Missense_Mutation SNP G G A TCGA-AG-A008-01A-01W-A005-10 TCGA-AG-A008-10A-01W-A005-10 g.chr2:234198609G>A c.1313G>A c.(1312-1314)cGc>cAc p.R438H SARC 2 234173536 234173536 + Splice_Site SNP A A G TCGA-X6-A8C7-01A-11D-A36J-09 TCGA-X6-A8C7-10A-01D-A36M-09 g.chr2:234173536A>G c.e5-1 SKCM 2 234173762 234173762 + Missense_Mutation SNP T T C TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr2:234173762T>C c.614T>C c.(613-615)cTt>cCt p.L205P SKCM 2 234178648 234178648 + Splice_Site SNP G G A TCGA-EE-A3AE-06A-11D-A196-08 TCGA-EE-A3AE-10A-01D-A198-08 g.chr2:234178648G>A c.642G>A c.(640-642)agG>agA p.R214R SKCM 2 234186290 234186290 + Missense_Mutation SNP G G A TCGA-D9-A6E9-06A-12D-A30X-08 TCGA-D9-A6E9-10A-01D-A30X-08 g.chr2:234186290G>A c.1031G>A c.(1030-1032)cGc>cAc p.R344H SKCM 2 234198983 234198983 + Missense_Mutation SNP C C T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 g.chr2:234198983C>T c.1414C>T c.(1414-1416)Cgt>Tgt p.R472C SKCM 2 234200864 234200864 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr2:234200864C>T c.1521C>T c.(1519-1521)tcC>tcT p.S507S SKCM 2 234200865 234200865 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr2:234200865C>T c.1522C>T c.(1522-1524)Cgt>Tgt p.R508C

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand CHEWS031 COSM4583301 c.552G>A p.T184T Substitution - coding silent 2:233265054-233265054 + TCGA-BR-8588-01 COSM4092462 c.1364T>C p.I455T Substitution - Missense 2:233290287-233290287 + 707T COSM4386660 c.1018G>T p.G340* Substitution - Nonsense 2:233277631-233277631 + CSCC-10-T COSM4511473 c.869C>T p.S290F Substitution - Missense 2:233274693-233274693 + I2L-P7-Tumor-Organoid COSM5354874 c.842A>C p.N281T Substitution - Missense 2:233273768-233273768 + TCGA-AP-A059-01 COSM1017980 c.1599C>T p.C533C Substitution - coding silent 2:233292405-233292405 + CSCC-56-T COSM4482160 c.257C>T p.A86V Substitution - Missense 2:233263177-233263177 + 587238 COSM1183893 c.856C>T p.R286C Substitution - Missense 2:233274680-233274680 + TCGA-B2-5641-01 COSM477089 c.1181C>T p.T394I Substitution - Missense 2:233282731-233282731 + TCGA-DW-7842-01 COSM3991157 c.411T>C p.T137T Substitution - coding silent 2:233264913-233264913 + HCT15 COSM4310954 c.655C>T p.R219W Substitution - Missense 2:233270015-233270015 + SC_9047 COSM5561040 c.1258A>C p.N420H Substitution - Missense 2:233289908-233289908 + DLD1 COSM4310954 c.655C>T p.R219W Substitution - Missense 2:233270015-233270015 + TCGA-AP-A051-01 COSM1017982 c.1745C>T p.A582V Substitution - Missense 2:233294271-233294271 + TCGA-B5-A0K2-01 COSM1017972 c.1206C>A p.H402Q Substitution - Missense 2:233289856-233289856 + TCGA-EW-A1PD-01 COSM1482880 c.1593C>G p.F531L Substitution - Missense 2:233292399-233292399 + PCSI_0352_Pa_P_526 COSM3782146 c.1758G>A p.S586S Substitution - coding silent 2:233294284-233294284 + STC252 COSM574102 c.1552C>T p.R518* Substitution - Nonsense 2:233292249-233292249 + TCGA-AN-A0XU-01 COSM442498 c.364A>T p.R122W Substitution - Missense 2:233264040-233264040 + sysucc-773T COSM3758033 c.898A>G p.T300A Substitution - Missense 2:233274722-233274722 + HCC14T COSM1614527 c.995C>T p.P332L Substitution - Missense 2:233277608-233277608 + CHC451T COSM4957183 c.230G>A p.W77* Substitution - Nonsense 2:233263150-233263150 + 587342 COSM1183897 c.1265G>A p.R422Q Substitution - Missense 2:233289915-233289915 + CN-AML-NR-08-Dx COSM3758033 c.898A>G p.T300A Substitution - Missense 2:233274722-233274722 + TCGA-C8-A12Z-01 COSM442497 c.191C>T p.P64L Substitution - Missense 2:233256177-233256177 + 587220 COSM1183894 c.122A>T p.K41I Substitution - Missense 2:233256108-233256108 + 1517_CLM COSM5756012 c.1322T>C p.V441A Substitution - Missense 2:233289972-233289972 + TCGA-AA-A010-01 COSM279029 c.1429C>T p.R477* Substitution - Nonsense 2:233290352-233290352 + H_KA-426980-S_15631 COSM158647 c.336C>T p.D112D Substitution - coding silent 2:233264012-233264012 + TCGA-AA-A00N-01 COSM274069 c.1414C>T p.R472C Substitution - Missense 2:233290337-233290337 + TCGA-BS-A0UJ-01 COSM1017963 c.293A>C p.E98A Substitution - Missense 2:233263213-233263213 + TCGA-DD-A3A4-01 COSM4929019 c.241C>G p.Q81E Substitution - Missense 2:233263161-233263161 + TCGA-EE-A3JD-06 COSM4394046 c.614T>C p.L205P Substitution - Missense 2:233265116-233265116 + CHC451T COSM4957183 c.230G>A p.W77* Substitution - Nonsense 2:233263150-233263150 + TCGA-EE-A2MT-06 COSM274069 c.1414C>T p.R472C Substitution - Missense 2:233290337-233290337 + LUAD-YINHD COSM350594 c.642G>C p.R214S Substitution - Missense 2:233270002-233270002 + ESCC_BICR_028T COSM5431781 c.1201C>T p.R401W Substitution - Missense 2:233282751-233282751 + PET052T COSM5824845 c.1285G>T p.D429Y Substitution - Missense 2:233289935-233289935 + WA43-27 COSM238879 c.1330A>G p.K444E Substitution - Missense 2:233290253-233290253 + TCGA-BH-A0C1-01 COSM442499 c.1663G>A p.E555K Substitution - Missense 2:233293290-233293290 + PCSI_0037_Pa_X COSM3379253 c.833C>T p.S278F Substitution - Missense 2:233273759-233273759 + CN-AML-08-T COSM3758033 c.898A>G p.T300A Substitution - Missense 2:233274722-233274722 + T2944 COSM4663998 c.646C>T p.R216W Substitution - Missense 2:233270006-233270006 + WA43-71 COSM238879 c.1330A>G p.K444E Substitution - Missense 2:233290253-233290253 + SNU-175 COSM3049844 c.394G>A p.A132T Substitution - Missense 2:233264896-233264896 + MOLT-4 COSM1669862 c.307C>T p.R103C Substitution - Missense 2:233263227-233263227 + C106 COSM4616281 c.1284C>T p.H428H Substitution - coding silent 2:233289934-233289934 + 2492729 COSM5730132 c.525C>T p.A175A Substitution - coding silent 2:233265027-233265027 + TCGA-D1-A17Q-01 COSM1017970 c.1195C>T p.R399* Substitution - Nonsense 2:233282745-233282745 + C658 COSM4443398 c.790G>T p.A264S Substitution - Missense 2:233273048-233273048 + 587332 COSM1183895 c.1589G>T p.G530V Substitution - Missense 2:233292395-233292395 + PT24_1 COSM5904141 c.151G>T p.V51L Substitution - Missense 2:233256137-233256137 + PTC-7C COSM3758033 c.898A>G p.T300A Substitution - Missense 2:233274722-233274722 + 2250196 COSM5029587 c.1321G>A p.V441I Substitution - Missense 2:233289971-233289971 + TCGA-GC-A3RC-01 COSM3798768 c.1365T>C p.I455I Substitution - coding silent 2:233290288-233290288 + sysucc-1370T COSM5471475 c.1215G>A p.T405T Substitution - coding silent 2:233289865-233289865 + LUAD-B00416 COSM331311 c.1014C>T p.A338A Substitution - coding silent 2:233277627-233277627 + TCGA-56-6546-01 COSM720208 c.1429C>A p.R477R Substitution - coding silent 2:233290352-233290352 + TCGA-D8-A27G-01 COSM3838872 c.280G>C p.E94Q Substitution - Missense 2:233263200-233263200 + PT46 COSM5928242 c.743C>T p.S248F Substitution - Missense 2:233273001-233273001 + TCGA-D9-A6E9-06 COSM4399598 c.1031G>A p.R344H Substitution - Missense 2:233277644-233277644 + TCGA-AP-A051-01 COSM1017966 c.946T>C p.C316R Substitution - Missense 2:233274770-233274770 + RK143_C01 COSM3702157 c.794+6T>C p.? Unknown 2:233273058-233273058 + WA43-44 COSM238879 c.1330A>G p.K444E Substitution - Missense 2:233290253-233290253 + PASLZM COSM5006288 c.548C>A p.T183N Substitution - Missense 2:233265050-233265050 + TCGA-BP-5001-01 COSM477088 c.660G>T p.L220L Substitution - coding silent 2:233270020-233270020 + 2334199 COSM318816 c.259C>T p.Q87* Substitution - Nonsense 2:233263179-233263179 + TCGA-BG-A0LX-01 COSM1017962 c.154T>G p.L52V Substitution - Missense 2:233256140-233256140 + HCT8 COSM4310954 c.655C>T p.R219W Substitution - Missense 2:233270015-233270015 + TCGA-AB-3002-03 COSM158647 c.336C>T p.D112D Substitution - coding silent 2:233264012-233264012 + TCGA-D1-A103-01 COSM1017976 c.1263G>A p.A421A Substitution - coding silent 2:233289913-233289913 + H1155 COSM1195109 c.428C>T p.T143M Substitution - Missense 2:233264930-233264930 + PT37 COSM5917533 c.932C>T p.P311L Substitution - Missense 2:233274756-233274756 + HT115 COSM3049849 c.558G>A p.E186E Substitution - coding silent 2:233265060-233265060 + HCC129T COSM5817000 c.372G>T p.M124I Substitution - Missense 2:233264048-233264048 + TCGA-BR-4184-01 COSM1017982 c.1745C>T p.A582V Substitution - Missense 2:233294271-233294271 + Pat_06_B COSM5071295 c.255G>A p.M85I Substitution - Missense 2:233263175-233263175 + LAU63 COSM234420 c.894G>T p.V298V Substitution - coding silent 2:233274718-233274718 + TCGA-A6-A565-01 COSM5095861 c.1422G>T p.W474C Substitution - Missense 2:233290345-233290345 + PT19_1 COSM5899387 c.1074C>A p.F358L Substitution - Missense 2:233281118-233281118 + 587376 COSM1183899 c.1333A>G p.T445A Substitution - Missense 2:233290256-233290256 + TCGA-AB-2821-03 COSM1318965 c.1673T>A p.L558Q Substitution - Missense 2:233293300-233293300 + HCC160T COSM3709489 c.851+3A>G p.? Unknown 2:233273780-233273780 + TCGA-66-2744-01 COSM720206 c.1745C>A p.A582E Substitution - Missense 2:233294271-233294271 + TCGA-EE-A3AE-06 COSM3579228 c.642G>A p.R214R Substitution - coding silent 2:233270002-233270002 + TCGA-AX-A0J0-01 COSM1017964 c.610C>T p.R204W Substitution - Missense 2:233265112-233265112 + CLN2 COSM5024767 c.356G>T p.R119L Substitution - Missense 2:233264032-233264032 + 3844_T COSM3962548 c.1730+8G>T p.? Unknown 2:233293365-233293365 + TCGA-AX-A0J1-01 COSM1017974 c.1262C>T p.A421V Substitution - Missense 2:233289912-233289912 + ESO-1059 COSM1245636 c.659T>A p.L220Q Substitution - Missense 2:233270019-233270019 + 2275_T COSM3962544 c.1061-6A>G p.? Unknown 2:233281099-233281099 + TCGA-G4-6628-01 COSM3695343 c.1214C>T p.T405M Substitution - Missense 2:233289864-233289864 + 2293776 COSM4607763 c.1147G>T p.A383S Substitution - Missense 2:233282697-233282697 + T3064 COSM1017982 c.1745C>T p.A582V Substitution - Missense 2:233294271-233294271 + I2L-P7-Tumor-Organoid COSM5353943 c.642-12_642-8delTTTTC p.? Unknown 2:233269990-233269994 + TCGA-CF-A3MH-01 COSM1306551 c.924G>T p.V308V Substitution - coding silent 2:233274748-233274748 + TCGA-DM-A1DA-01 COSM5167719 c.686A>G p.K229R Substitution - Missense 2:233270046-233270046 + OSCC-GB_00740111 COSM4890914 c.116-1G>C p.? Unknown 2:233256101-233256101 + PT36 COSM5914874 c.1103G>A p.G368E Substitution - Missense 2:233281147-233281147 + TCGA-CA-6717-01 COSM279029 c.1429C>T p.R477* Substitution - Nonsense 2:233290352-233290352 + S00837 COSM309325 c.1001C>T p.S334F Substitution - Missense 2:233277614-233277614 + 587376 COSM1183901 c.1470G>T p.K490N Substitution - Missense 2:233292167-233292167 + PD4123a COSM159243 c.540G>A p.L180L Substitution - coding silent 2:233265042-233265042 + TCGA-B5-A0JY-01 COSM1017970 c.1195C>T p.R399* Substitution - Nonsense 2:233282745-233282745 + TCGA-HC-A6AN-01 COSM4392910 c.648G>A p.R216R Substitution - coding silent 2:233270008-233270008 + HCC14 COSM1614527 c.995C>T p.P332L Substitution - Missense 2:233277608-233277608 + TCGA-AX-A0J0-01 COSM1017965 c.833C>A p.S278Y Substitution - Missense 2:233273759-233273759 + HCC92T COSM3746538 c.642-9T>C p.? Unknown 2:233269993-233269993 + TCGA-D1-A17Q-01 COSM1017964 c.610C>T p.R204W Substitution - Missense 2:233265112-233265112 + TCGA-AM-5820-01 COSM3758033 c.898A>G p.T300A Substitution - Missense 2:233274722-233274722 + ASHPC_0008_Pa_P COSM3782146 c.1758G>A p.S586S Substitution - coding silent 2:233294284-233294284 + CHEWS033 COSM4583302 c.1759C>T p.P587S Substitution - Missense 2:233294285-233294285 + TCGA-D1-A17H-01 COSM1017968 c.1180A>G p.T394A Substitution - Missense 2:233282730-233282730 + TCGA-B5-A0JY-01 COSM1017967 c.954C>T p.F318F Substitution - coding silent 2:233274778-233274778 + OSCC-GB_00590111 COSM4888615 c.162G>A p.Q54Q Substitution - coding silent 2:233256148-233256148 + TCGA-DK-A3IU-01 COSM3798766 c.1189G>A p.D397N Substitution - Missense 2:233282739-233282739 + 477 COSM4438779 c.1645G>A p.V549M Substitution - Missense 2:233293272-233293272 + HCC160 COSM3709489 c.851+3A>G p.? Unknown 2:233273780-233273780 + CSCC-16-T COSM4526965 c.1430G>T p.R477L Substitution - Missense 2:233290353-233290353 + TCGA-GM-A2DI-01 COSM3838874 c.1360G>A p.D454N Substitution - Missense 2:233290283-233290283 + TCGA-33-4533-01 COSM477088 c.660G>T p.L220L Substitution - coding silent 2:233270020-233270020 + 426980 COSM158647 c.336C>T p.D112D Substitution - coding silent 2:233264012-233264012 + 587284 COSM1017982 c.1745C>T p.A582V Substitution - Missense 2:233294271-233294271 + 3844_T COSM3962546 c.1730+7T>C p.? Unknown 2:233293364-233293364 + TCGA-AA-A00N-01 COSM274068 c.1108A>G p.T370A Substitution - Missense 2:233281152-233281152 + PD11342a COSM5772972 c.15C>T p.L5L Substitution - coding silent 2:233251842-233251842 + Gp2D COSM4628023 c.1024A>G p.M342V Substitution - Missense 2:233277637-233277637 + TCGA-AP-A0LM-01 COSM1017978 c.1466G>A p.G489E Substitution - Missense 2:233292163-233292163 + TCGA-D8-A27G-01 COSM3838873 c.806C>T p.S269L Substitution - Missense 2:233273732-233273732 + TCGA-AA-3833-01 COSM271116 c.387A>G p.A129A Substitution - coding silent 2:233264063-233264063 + YUMOBER COSM5396496 c.733G>A p.D245N Substitution - Missense 2:233272991-233272991 + S00837 COSM309325 c.1001C>T p.S334F Substitution - Missense 2:233277614-233277614 + CN-AML-CR-17-Dx COSM3758033 c.898A>G p.T300A Substitution - Missense 2:233274722-233274722 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.529322 2q37.1 610767 2469635|CGAP|BC117337|C/T|non-coding||2622|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G IntronicSNV . c.1325-136A>G 2 234198758 CM A G Missense p.T394A c.1180A>G 2 234191376 UCEC A T Missense p.H321L c.962A>T 2 234186221 LUAD A T Missense p.R122W c.364A>T 2 234172686 BRCA C A Missense p.A582E c.1745C>A 2 234202917 LUSC C A Missense p.H402Q c.1206C>A 2 234198502 UCEC C A Synonymous p.R219R c.655C>A 2 234178661 LUAD C A Synonymous p.R477R c.1429C>A 2 234198998 LUSC C G Missense p.F531L c.1593C>G 2 234201045 BRCA C T 3-UTRSNV . c.1821+618C>T 2 234203611 ALL C T Missense p.A584V c.1751C>T 2 234202923 HNSC C T Missense p.P64L c.191C>T 2 234164823 BRCA C T Missense p.R472C c.1414C>T 2 234198983 CM C T Missense p.S334F c.1001C>T 2 234186260 SCLC C T Nonsense p.Q87* c.259C>T 2 234171825 SCLC C T Nonsense p.R518* c.1552C>T 2 234200895 LUAD C T Synonymous p.D112D c.336C>T 2 234172658 AML G A IntronicSNV . c.1204-1070G>A 2 234197430 BRCA G A IntronicSNV . c.210-1762G>A 2 234170014 PIA G A Missense p.D322N c.964G>A 2 234186223 HNSC G A Missense p.D397N c.1189G>A 2 234191385 BLCA G A Missense p.E555K c.1663G>A 2 234201936 BRCA G A Missense p.G72R c.214G>A 2 234171780 HNSC G A Missense p.R438H c.1313G>A 2 234198609 COREAD G A Synonymous p.L180L c.540G>A 2 234173688 BRCA G A Synonymous p.R214R c.642G>A 2 234178648 CM G A Synonymous p.R216R c.648G>A 2 234178654 PRAD G A Synonymous p.R430R c.1290G>A 2 234198586 HNSC G T Synonymous p.L220L c.660G>T 2 234178666 LUSC G T Synonymous p.L220L c.660G>T 2 234178666 RCCC G T Synonymous p.V308V c.924G>T 2 234183394 BLCA T A Missense p.L220Q c.659T>A 2 234178665 ESCA T A Missense p.L558Q c.1673T>A 2 234201946 AML T C Missense p.L205P c.614T>C 2 234173762 CM T G Missense p.L52V c.154T>G 2 234164786 UCEC