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 3 141457242 141457242 + Nonsense_Mutation SNP C C G TCGA-DK-AA6S-01A-21D-A391-08 TCGA-DK-AA6S-10A-01D-A394-08 g.chr3:141457242C>G c.59C>G c.(58-60)tCa>tGa p.S20* BLCA 3 141462354 141462354 + Missense_Mutation SNP C C T TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 g.chr3:141462354C>T c.179C>T c.(178-180)gCc>gTc p.A60V BLCA 3 141464003 141464003 + Missense_Mutation SNP G G C TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr3:141464003G>C c.226G>C c.(226-228)Gtc>Ctc p.V76L BRCA 3 141464080 141464080 + Silent SNP C C G TCGA-A1-A0SI-01A-11D-A142-09 TCGA-A1-A0SI-10B-01D-A142-09 g.chr3:141464080C>G c.303C>G c.(301-303)ctC>ctG p.L101L BRCA 3 141464118 141464118 + Silent SNP G G A TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr3:141464118G>A c.341G>A c.(340-342)tGa>tAa p.*114* COAD 3 141462371 141462372 + Missense_Mutation DNP GC GC AT TCGA-CM-5348-01A-21D-1719-10 TCGA-CM-5348-10A-01D-1719-10 g.chr3:141462371_141462372GC>AT c.196_197GC>AT c.(196-198)GCt>ATt p.A66I COADREAD 3 141462371 141462372 + Missense_Mutation DNP GC GC AT TCGA-CM-5348-01A-21D-1719-10 TCGA-CM-5348-10A-01D-1719-10 g.chr3:141462371_141462372GC>AT c.196_197GC>AT c.(196-198)GCt>ATt p.A66I HNSC 3 141457317 141457317 + Missense_Mutation SNP T T A TCGA-P3-A6T7-01A-11D-A34J-08 TCGA-P3-A6T7-10A-01D-A34M-08 g.chr3:141457317T>A c.134T>A c.(133-135)gTg>gAg p.V45E LUAD 3 141457314 141457314 + Missense_Mutation SNP A A G TCGA-55-8094-01A-11D-2238-08 TCGA-55-8094-10A-01D-2238-08 g.chr3:141457314A>G c.131A>G c.(130-132)gAc>gGc p.D44G LUSC 3 141464056 141464056 + Silent SNP G G A TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 g.chr3:141464056G>A c.279G>A c.(277-279)gtG>gtA p.V93V SKCM 3 141462360 141462360 + Missense_Mutation SNP T T G TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr3:141462360T>G c.185T>G c.(184-186)cTt>cGt p.L62R ACC 2 234229340 234229340 + Silent SNP C C A TCGA-OR-A5KB-01A-11D-A30A-10 TCGA-OR-A5KB-11A-11D-A30A-10 g.chr2:234229340C>A c.246C>A c.(244-246)acC>acA p.T82T BLCA 2 234235785 234235785 + Missense_Mutation SNP G G C TCGA-GU-A42Q-01A-11D-A23U-08 TCGA-GU-A42Q-10A-01D-A23U-08 g.chr2:234235785G>C c.454G>C c.(454-456)Gag>Cag p.E152Q BLCA 2 234243683 234243683 + Missense_Mutation SNP G G C TCGA-XF-A9T8-01A-11D-A391-08 TCGA-XF-A9T8-10A-01D-A394-08 g.chr2:234243683G>C c.882G>C c.(880-882)agG>agC p.R294S BRCA 2 234229296 234229296 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 g.chr2:234229296G>A c.202G>A c.(202-204)Gcc>Acc p.A68T BRCA 2 234235788 234235788 + Missense_Mutation SNP G G C TCGA-E2-A105-01A-11D-A10M-09 TCGA-E2-A105-10A-01D-A10M-09 g.chr2:234235788G>C c.457G>C c.(457-459)Gtc>Ctc p.V153L BRCA 2 234237145 234237145 + Silent SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 g.chr2:234237145C>T c.534C>T c.(532-534)atC>atT p.I178I BRCA 2 234255501 234255501 + Silent SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 g.chr2:234255501G>A c.1161G>A c.(1159-1161)ctG>ctA p.L387L CESC 2 234229394 234229394 + Silent SNP C C T TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 g.chr2:234229394C>T c.300C>T c.(298-300)gcC>gcT p.A100A CESC 2 234255520 234255520 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 g.chr2:234255520G>A c.1180G>A c.(1180-1182)Gag>Aag p.E394K COAD 2 234217900 234217900 + Missense_Mutation SNP G G A TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr2:234217900G>A c.65G>A c.(64-66)cGg>cAg p.R22Q COAD 2 234229326 234229326 + Missense_Mutation SNP G G A TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr2:234229326G>A c.232G>A c.(232-234)Gtg>Atg p.V78M COAD 2 234229431 234229431 + Frame_Shift_Del DEL A A - TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr2:234229431delA c.337delA c.(337-339)aaafs p.K114fs COAD 2 234235810 234235810 + Missense_Mutation SNP G G A TCGA-CK-6751-01A-11D-1835-10 TCGA-CK-6751-10A-01D-1835-10 g.chr2:234235810G>A c.479G>A c.(478-480)aGc>aAc p.S160N COAD 2 234237161 234237161 + Missense_Mutation SNP G G T TCGA-CK-4950-01A-01D-1719-10 TCGA-CK-4950-10A-01D-1719-10 g.chr2:234237161G>T c.550G>T c.(550-552)Gcc>Tcc p.A184S COADREAD 2 234217900 234217900 + Missense_Mutation SNP G G A TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr2:234217900G>A c.65G>A c.(64-66)cGg>cAg p.R22Q COADREAD 2 234229326 234229326 + Missense_Mutation SNP G G A TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr2:234229326G>A c.232G>A c.(232-234)Gtg>Atg p.V78M COADREAD 2 234229431 234229431 + Frame_Shift_Del DEL A A - TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr2:234229431delA c.337delA c.(337-339)aaafs p.K114fs COADREAD 2 234235810 234235810 + Missense_Mutation SNP G G A TCGA-CK-6751-01A-11D-1835-10 TCGA-CK-6751-10A-01D-1835-10 g.chr2:234235810G>A c.479G>A c.(478-480)aGc>aAc p.S160N COADREAD 2 234237161 234237161 + Missense_Mutation SNP G G T TCGA-CK-4950-01A-01D-1719-10 TCGA-CK-4950-10A-01D-1719-10 g.chr2:234237161G>T c.550G>T c.(550-552)Gcc>Tcc p.A184S ESCA 2 234224723 234224723 + Silent SNP G G T TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 g.chr2:234224723G>T c.78G>T c.(76-78)gtG>gtT p.V26V ESCA 2 234235800 234235800 + Missense_Mutation SNP G G A TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 g.chr2:234235800G>A c.469G>A c.(469-471)Gcc>Acc p.A157T GBM 2 234237130 234237130 + Silent SNP C C T TCGA-14-0862-01B-01D-1845-08 TCGA-14-0862-10C-01D-1845-08 g.chr2:234237130C>T c.519C>T c.(517-519)tcC>tcT p.S173S GBMLGG 2 234235800 234235800 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:234235800G>A c.469G>A c.(469-471)Gcc>Acc p.A157T GBMLGG 2 234235841 234235841 + Missense_Mutation SNP G G C TCGA-HT-A4DS-01A-11D-A26M-08 TCGA-HT-A4DS-10A-01D-A26K-08 g.chr2:234235841G>C c.510G>C c.(508-510)aaG>aaC p.K170N GBMLGG 2 234237130 234237130 + Silent SNP C C T TCGA-14-0862-01B-01D-1845-08 TCGA-14-0862-10C-01D-1845-08 g.chr2:234237130C>T c.519C>T c.(517-519)tcC>tcT p.S173S HNSC 2 234229349 234229349 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr2:234229349G>A c.255G>A c.(253-255)agG>agA p.R85R HNSC 2 234229350 234229350 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr2:234229350G>A c.256G>A c.(256-258)Gac>Aac p.D86N HNSC 2 234243614 234243614 + Silent SNP A A G TCGA-KU-A6H8-01A-21D-A34J-08 TCGA-KU-A6H8-10A-01D-A34M-08 g.chr2:234243614A>G c.813A>G c.(811-813)aaA>aaG p.K271K KIPAN 2 234235795 234235795 + Missense_Mutation SNP C C T TCGA-B0-5709-01A-11D-1534-10 TCGA-B0-5709-11A-01D-1534-10 g.chr2:234235795C>T c.464C>T c.(463-465)gCa>gTa p.A155V KIPAN 2 234237129 234237129 + Missense_Mutation SNP C C T TCGA-B8-4619-01A-02D-1553-08 TCGA-B8-4619-11A-01D-1553-08 g.chr2:234237129C>T c.518C>T c.(517-519)tCc>tTc p.S173F KIPAN 2 234237149 234237149 + Missense_Mutation SNP A A G TCGA-BP-5187-01A-01D-1429-08 TCGA-BP-5187-11A-01D-1429-08 g.chr2:234237149A>G c.538A>G c.(538-540)Aaa>Gaa p.K180E KIPAN 2 234240287 234240287 + Splice_Site SNP G G A TCGA-DV-5575-01A-01D-1534-10 TCGA-DV-5575-10A-01D-1535-10 g.chr2:234240287G>A c.735G>A c.(733-735)gtG>gtA p.V245V KIRC 2 234235795 234235795 + Missense_Mutation SNP C C T TCGA-B0-5709-01A-11D-1534-10 TCGA-B0-5709-11A-01D-1534-10 g.chr2:234235795C>T c.464C>T c.(463-465)gCa>gTa p.A155V KIRC 2 234237129 234237129 + Missense_Mutation SNP C C T TCGA-B8-4619-01A-02D-1553-08 TCGA-B8-4619-11A-01D-1553-08 g.chr2:234237129C>T c.518C>T c.(517-519)tCc>tTc p.S173F KIRC 2 234237149 234237149 + Missense_Mutation SNP A A G TCGA-BP-5187-01A-01D-1429-08 TCGA-BP-5187-11A-01D-1429-08 g.chr2:234237149A>G c.538A>G c.(538-540)Aaa>Gaa p.K180E KIRC 2 234240287 234240287 + Splice_Site SNP G G A TCGA-DV-5575-01A-01D-1534-10 TCGA-DV-5575-10A-01D-1535-10 g.chr2:234240287G>A c.735G>A c.(733-735)gtG>gtA p.V245V LGG 2 234235800 234235800 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:234235800G>A c.469G>A c.(469-471)Gcc>Acc p.A157T LGG 2 234235841 234235841 + Missense_Mutation SNP G G C TCGA-HT-A4DS-01A-11D-A26M-08 TCGA-HT-A4DS-10A-01D-A26K-08 g.chr2:234235841G>C c.510G>C c.(508-510)aaG>aaC p.K170N LIHC 2 234217900 234217900 + Missense_Mutation SNP G G T TCGA-MI-A75G-01A-11D-A32G-10 TCGA-MI-A75G-10A-01D-A32G-10 g.chr2:234217900G>T c.65G>T c.(64-66)cGg>cTg p.R22L LIHC 2 234237222 234237222 + Missense_Mutation SNP A A G TCGA-BC-A3KG-01A-11D-A20W-10 TCGA-BC-A3KG-10A-01D-A20W-10 g.chr2:234237222A>G c.611A>G c.(610-612)gAc>gGc p.D204G LUAD 2 234224723 234224723 + Silent SNP G G T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 g.chr2:234224723G>T c.78G>T c.(76-78)gtG>gtT p.V26V LUAD 2 234227423 234227423 + Missense_Mutation SNP C C A TCGA-38-4626-01A-01D-1553-08 TCGA-38-4626-11A-01D-1553-08 g.chr2:234227423C>A c.163C>A c.(163-165)Ctt>Att p.L55I LUAD 2 234231626 234231626 + Missense_Mutation SNP A A T TCGA-44-3918-01A-01D-1105-08 TCGA-44-3918-11A-01D-1105-08 g.chr2:234231626A>T c.410A>T c.(409-411)cAg>cTg p.Q137L LUAD 2 234238162 234238162 + Silent SNP C C A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 g.chr2:234238162C>A c.672C>A c.(670-672)atC>atA p.I224I LUAD 2 234238166 234238166 + Missense_Mutation SNP G G T TCGA-55-6979-01A-11D-1945-08 TCGA-55-6979-11A-01D-1945-08 g.chr2:234238166G>T c.676G>T c.(676-678)Gtg>Ttg p.V226L LUAD 2 234238223 234238223 + Splice_Site SNP G G T TCGA-55-7914-01A-11D-2167-08 TCGA-55-7914-10A-01D-2167-08 g.chr2:234238223G>T c.733G>T c.(733-735)Gtg>Ttg p.V245L OV 2 234237227 234237227 + Missense_Mutation SNP C C A TCGA-25-2042-01A-01W-0799-08 TCGA-25-2042-10A-01W-0799-08 g.chr2:234237227C>A c.616C>A c.(616-618)Ccc>Acc p.P206T PAAD 2 234229331 234229331 + Silent SNP C C T TCGA-3E-AAAY-01A-11D-A38G-08 TCGA-3E-AAAY-10A-01D-A38J-08 g.chr2:234229331C>T c.237C>T c.(235-237)atC>atT p.I79I PAAD 2 234237147 234237147 + Missense_Mutation SNP G G A TCGA-IB-A6UF-01A-23D-A33T-08 TCGA-IB-A6UF-10A-01D-A33W-08 g.chr2:234237147G>A c.536G>A c.(535-537)cGc>cAc p.R179H PAAD 2 234238171 234238171 + Silent SNP C C A TCGA-IB-AAUN-01A-12D-A38G-08 TCGA-IB-AAUN-10A-01D-A38J-08 g.chr2:234238171C>A c.681C>A c.(679-681)acC>acA p.T227T PCPG 2 234243689 234243689 + Silent SNP C C T TCGA-QR-A70W-01A-12D-A35D-08 TCGA-QR-A70W-10B-01D-A35B-08 g.chr2:234243689C>T c.888C>T c.(886-888)ggC>ggT p.G296G PRAD 2 234237163 234237163 + Silent SNP C C T TCGA-G9-6366-01A-11D-2114-08 TCGA-G9-6366-10A-01D-2115-08 g.chr2:234237163C>T c.552C>T c.(550-552)gcC>gcT p.A184A PRAD 2 234237188 234237188 + Nonsense_Mutation SNP C C T TCGA-EJ-7782-01A-11D-2114-08 TCGA-EJ-7782-10A-01D-2114-08 g.chr2:234237188C>T c.577C>T c.(577-579)Cga>Tga p.R193* PRAD 2 234237211 234237211 + Missense_Mutation SNP C C G TCGA-YL-A9WH-01A-11D-A377-08 TCGA-YL-A9WH-10A-01D-A37A-08 g.chr2:234237211C>G c.600C>G c.(598-600)ttC>ttG p.F200L SARC 2 234229408 234229408 + Missense_Mutation SNP C C A TCGA-DX-A1KX-01A-22D-A24N-09 TCGA-DX-A1KX-10A-01D-A24N-09 g.chr2:234229408C>A c.314C>A c.(313-315)aCa>aAa p.T105K SARC 2 234255546 234255546 + Silent SNP C C T TCGA-HB-A5W3-01A-11D-A29N-09 TCGA-HB-A5W3-10A-01D-A29N-09 g.chr2:234255546C>T c.1206C>T c.(1204-1206)gaC>gaT p.D402D SKCM 2 234217864 234217864 + Missense_Mutation SNP C C T TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chr2:234217864C>T c.29C>T c.(28-30)tCc>tTc p.S10F SKCM 2 234217864 234217864 + Missense_Mutation SNP C C T TCGA-EE-A2M5-06A-12D-A197-08 TCGA-EE-A2M5-10A-01D-A199-08 g.chr2:234217864C>T c.29C>T c.(28-30)tCc>tTc p.S10F SKCM 2 234237135 234237135 + Missense_Mutation SNP G G A TCGA-D3-A3C1-06A-12D-A196-08 TCGA-D3-A3C1-10A-01D-A198-08 g.chr2:234237135G>A c.524G>A c.(523-525)cGa>cAa p.R175Q SKCM 2 234237135 234237135 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 g.chr2:234237135G>A c.524G>A c.(523-525)cGa>cAa p.R175Q SKCM 2 234237135 234237135 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 g.chr2:234237135G>A c.524G>A c.(523-525)cGa>cAa p.R175Q SKCM 2 234237186 234237186 + Missense_Mutation SNP C C T TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chr2:234237186C>T c.575C>T c.(574-576)cCc>cTc p.P192L SKCM 2 234238222 234238222 + Splice_Site SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 g.chr2:234238222C>T c.732C>T c.(730-732)ttC>ttT p.F244F SKCM 2 234247329 234247329 + Missense_Mutation SNP G G A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 g.chr2:234247329G>A c.952G>A c.(952-954)Gag>Aag p.E318K SKCM 2 234247353 234247353 + Missense_Mutation SNP G G A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 g.chr2:234247353G>A c.976G>A c.(976-978)Gga>Aga p.G326R SKCM 2 234249108 234249108 + Missense_Mutation SNP G G A TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 g.chr2:234249108G>A c.1030G>A c.(1030-1032)Gga>Aga p.G344R SKCM 2 234255054 234255054 + Missense_Mutation SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr2:234255054G>A c.1108G>A c.(1108-1110)Gaa>Aaa p.E370K

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 3 141463978 141463978 single base substitution A G downstream_gene_variant BLCA-CN 3 141463978 141463978 single base substitution A G intron_variant BLCA-CN 3 141463978 141463978 single base substitution A G upstream_gene_variant BLCA-US 3 141462354 141462354 single base substitution C T 3_prime_UTR_variant BLCA-US 3 141462354 141462354 single base substitution C T downstream_gene_variant BLCA-US 3 141462354 141462354 single base substitution C T intron_variant BLCA-US 3 141462354 141462354 single base substitution C T missense_variant A60V 179C>T BLCA-US 3 141462354 141462354 single base substitution C T missense_variant P58S 172C>T BLCA-US 3 141462354 141462354 single base substitution C T upstream_gene_variant BRCA-EU 3 141453092 141453092 single base substitution C T upstream_gene_variant BRCA-EU 3 141453515 141453515 single base substitution G A upstream_gene_variant BRCA-EU 3 141454537 141454537 single base substitution G A upstream_gene_variant BRCA-EU 3 141455203 141455203 single base substitution G C upstream_gene_variant BRCA-EU 3 141455492 141455492 single base substitution C A upstream_gene_variant BRCA-EU 3 141456090 141456090 single base substitution A C upstream_gene_variant BRCA-EU 3 141456537 141456537 insertion of <=200bp - TA upstream_gene_variant BRCA-EU 3 141457962 141457962 single base substitution A C intron_variant BRCA-EU 3 141461319 141461319 single base substitution C A intron_variant BRCA-EU 3 141461319 141461319 single base substitution C A upstream_gene_variant BRCA-EU 3 141461722 141461722 single base substitution G A 3_prime_UTR_variant BRCA-EU 3 141461722 141461722 single base substitution G A exon_variant BRCA-EU 3 141461722 141461722 single base substitution G A intron_variant BRCA-EU 3 141461722 141461722 single base substitution G A upstream_gene_variant BRCA-EU 3 141462128 141462128 single base substitution A T downstream_gene_variant BRCA-EU 3 141462128 141462128 single base substitution A T intron_variant BRCA-EU 3 141462128 141462128 single base substitution A T upstream_gene_variant BRCA-EU 3 141463308 141463308 single base substitution A G downstream_gene_variant BRCA-EU 3 141463308 141463308 single base substitution A G intron_variant BRCA-EU 3 141463308 141463308 single base substitution A G upstream_gene_variant BRCA-EU 3 141463978 141463978 single base substitution A G downstream_gene_variant BRCA-EU 3 141463978 141463978 single base substitution A G intron_variant BRCA-EU 3 141463978 141463978 single base substitution A G upstream_gene_variant BRCA-EU 3 141464095 141464095 single base substitution G A 3_prime_UTR_variant BRCA-EU 3 141464095 141464095 single base substitution G A downstream_gene_variant BRCA-EU 3 141464095 141464095 single base substitution G A stop_gained W106* 318G>A BRCA-EU 3 141464095 141464095 single base substitution G A stop_gained W90* 270G>A BRCA-EU 3 141464095 141464095 single base substitution G A upstream_gene_variant BRCA-EU 3 141464364 141464364 single base substitution G A 3_prime_UTR_variant BRCA-EU 3 141464364 141464364 single base substitution G A downstream_gene_variant BRCA-EU 3 141464364 141464364 single base substitution G A upstream_gene_variant BRCA-EU 3 141464926 141464926 single base substitution C T 3_prime_UTR_variant BRCA-EU 3 141464926 141464926 single base substitution C T downstream_gene_variant BRCA-EU 3 141464926 141464926 single base substitution C T exon_variant BRCA-EU 3 141466333 141466333 single base substitution T G 3_prime_UTR_variant BRCA-EU 3 141466333 141466333 single base substitution T G downstream_gene_variant BRCA-EU 3 141469080 141469080 single base substitution C G downstream_gene_variant BRCA-EU 3 141469111 141469111 single base substitution G C downstream_gene_variant BRCA-EU 3 141470477 141470477 single base substitution C A downstream_gene_variant BRCA-EU 3 141470602 141470602 single base substitution C G downstream_gene_variant BRCA-EU 3 141470950 141470950 single base substitution A G downstream_gene_variant BRCA-FR 3 141466333 141466333 single base substitution T G 3_prime_UTR_variant BRCA-FR 3 141466333 141466333 single base substitution T G downstream_gene_variant BRCA-FR 3 141469080 141469080 single base substitution C G downstream_gene_variant BRCA-FR 3 141470602 141470602 single base substitution C G downstream_gene_variant BRCA-UK 3 141452610 141452610 single base substitution C T upstream_gene_variant BRCA-UK 3 141457962 141457962 single base substitution A C intron_variant BRCA-US 3 141464080 141464080 single base substitution C G 3_prime_UTR_variant BRCA-US 3 141464080 141464080 single base substitution C G downstream_gene_variant BRCA-US 3 141464080 141464080 single base substitution C G synonymous_variant L101L 303C>G BRCA-US 3 141464080 141464080 single base substitution C G synonymous_variant L85L 255C>G BRCA-US 3 141464080 141464080 single base substitution C G upstream_gene_variant BRCA-US 3 141464118 141464118 single base substitution G A 3_prime_UTR_variant BRCA-US 3 141464118 141464118 single base substitution G A downstream_gene_variant BRCA-US 3 141464118 141464118 single base substitution G A stop_retained_variant *114* 341G>A BRCA-US 3 141464118 141464118 single base substitution G A stop_retained_variant *98* 293G>A BRCA-US 3 141464118 141464118 single base substitution G A upstream_gene_variant BTCA-JP 3 141463998 141463998 single base substitution C T downstream_gene_variant BTCA-JP 3 141463998 141463998 single base substitution C T intron_variant BTCA-JP 3 141463998 141463998 single base substitution C T upstream_gene_variant CLLE-ES 3 141458827 141458827 single base substitution C T intron_variant CLLE-ES 3 141466758 141466758 single base substitution A T downstream_gene_variant COAD-US 3 141457299 141457299 single base substitution C T exon_variant COAD-US 3 141457299 141457299 single base substitution C T missense_variant A39V 116C>T COAD-US 3 141462371 141462371 single base substitution G A 3_prime_UTR_variant COAD-US 3 141462371 141462371 single base substitution G A downstream_gene_variant COAD-US 3 141462371 141462371 single base substitution G A intron_variant COAD-US 3 141462371 141462371 single base substitution G A missense_variant A66T 196G>A COAD-US 3 141462371 141462371 single base substitution G A synonymous_variant K63K 189G>A COAD-US 3 141462371 141462371 single base substitution G A upstream_gene_variant COAD-US 3 141462372 141462372 single base substitution C T 3_prime_UTR_variant COAD-US 3 141462372 141462372 single base substitution C T downstream_gene_variant COAD-US 3 141462372 141462372 single base substitution C T intron_variant COAD-US 3 141462372 141462372 single base substitution C T missense_variant A66V 197C>T COAD-US 3 141462372 141462372 single base substitution C T synonymous_variant L64L 190C>T COAD-US 3 141462372 141462372 single base substitution C T upstream_gene_variant COCA-CN 3 141461561 141461561 single base substitution G T 3_prime_UTR_variant COCA-CN 3 141461561 141461561 single base substitution G T exon_variant COCA-CN 3 141461561 141461561 single base substitution G T intron_variant COCA-CN 3 141461561 141461561 single base substitution G T upstream_gene_variant COCA-CN 3 141463986 141463986 single base substitution T G downstream_gene_variant COCA-CN 3 141463986 141463986 single base substitution T G intron_variant COCA-CN 3 141463986 141463986 single base substitution T G upstream_gene_variant ESAD-UK 3 141452146 141452146 single base substitution C T upstream_gene_variant ESAD-UK 3 141452147 141452147 single base substitution G A upstream_gene_variant ESAD-UK 3 141452451 141452451 single base substitution A T upstream_gene_variant ESAD-UK 3 141453501 141453501 single base substitution T G upstream_gene_variant ESAD-UK 3 141454045 141454045 single base substitution A T upstream_gene_variant ESAD-UK 3 141461675 141461675 deletion of <=200bp G - 3_prime_UTR_variant ESAD-UK 3 141461675 141461675 deletion of <=200bp G - exon_variant ESAD-UK 3 141461675 141461675 deletion of <=200bp G - intron_variant ESAD-UK 3 141461675 141461675 deletion of <=200bp G - upstream_gene_variant ESAD-UK 3 141462322 141462322 single base substitution A T downstream_gene_variant ESAD-UK 3 141462322 141462322 single base substitution A T intron_variant ESAD-UK 3 141462322 141462322 single base substitution A T upstream_gene_variant ESAD-UK 3 141467275 141467275 single base substitution G T downstream_gene_variant ESAD-UK 3 141470104 141470104 single base substitution G A downstream_gene_variant ESAD-UK 3 141470333 141470333 single base substitution C A downstream_gene_variant LINC-JP 3 141461065 141461065 single base substitution C T intron_variant LINC-JP 3 141461065 141461065 single base substitution C T upstream_gene_variant LIRI-JP 3 141452146 141452146 single base substitution C T upstream_gene_variant LIRI-JP 3 141455042 141455042 single base substitution T G upstream_gene_variant LIRI-JP 3 141458565 141458565 single base substitution T G intron_variant LIRI-JP 3 141459156 141459156 single base substitution C T intron_variant LIRI-JP 3 141461100 141461100 single base substitution G T intron_variant LIRI-JP 3 141461100 141461100 single base substitution G T upstream_gene_variant LIRI-JP 3 141462669 141462669 single base substitution A G downstream_gene_variant LIRI-JP 3 141462669 141462669 single base substitution A G intron_variant LIRI-JP 3 141462669 141462669 single base substitution A G upstream_gene_variant LIRI-JP 3 141464444 141464444 single base substitution A G 3_prime_UTR_variant LIRI-JP 3 141464444 141464444 single base substitution A G downstream_gene_variant LIRI-JP 3 141464444 141464444 single base substitution A G upstream_gene_variant LIRI-JP 3 141466292 141466292 single base substitution A G 3_prime_UTR_variant LIRI-JP 3 141466292 141466292 single base substitution A G downstream_gene_variant LIRI-JP 3 141468377 141468377 insertion of <=200bp - TA downstream_gene_variant LIRI-JP 3 141468396 141468396 single base substitution A G downstream_gene_variant LIRI-JP 3 141469343 141469343 single base substitution T C downstream_gene_variant LUSC-KR 3 141454824 141454824 single base substitution C A upstream_gene_variant LUSC-KR 3 141454955 141454955 single base substitution C A upstream_gene_variant LUSC-KR 3 141455627 141455627 single base substitution C A upstream_gene_variant LUSC-KR 3 141461087 141461087 single base substitution G T intron_variant LUSC-KR 3 141461087 141461087 single base substitution G T upstream_gene_variant LUSC-KR 3 141462292 141462292 single base substitution G T downstream_gene_variant LUSC-KR 3 141462292 141462292 single base substitution G T intron_variant LUSC-KR 3 141462292 141462292 single base substitution G T upstream_gene_variant LUSC-KR 3 141467961 141467961 single base substitution G T downstream_gene_variant LUSC-KR 3 141468404 141468404 single base substitution A G downstream_gene_variant LUSC-KR 3 141469031 141469031 single base substitution C T downstream_gene_variant LUSC-US 3 141464056 141464056 single base substitution G A 3_prime_UTR_variant LUSC-US 3 141464056 141464056 single base substitution G A downstream_gene_variant LUSC-US 3 141464056 141464056 single base substitution G A stop_retained_variant *91* 272G>A LUSC-US 3 141464056 141464056 single base substitution G A synonymous_variant V77V 231G>A LUSC-US 3 141464056 141464056 single base substitution G A synonymous_variant V93V 279G>A LUSC-US 3 141464056 141464056 single base substitution G A upstream_gene_variant MALY-DE 3 141453529 141453530 deletion of <=200bp GT - upstream_gene_variant MALY-DE 3 141457011 141457011 single base substitution T G upstream_gene_variant MALY-DE 3 141457765 141457765 single base substitution G C intron_variant MALY-DE 3 141461363 141461363 single base substitution A G intron_variant MALY-DE 3 141461363 141461363 single base substitution A G upstream_gene_variant MALY-DE 3 141464108 141464108 single base substitution A T 3_prime_UTR_variant MALY-DE 3 141464108 141464108 single base substitution A T downstream_gene_variant MALY-DE 3 141464108 141464108 single base substitution A T missense_variant I111F 331A>T MALY-DE 3 141464108 141464108 single base substitution A T missense_variant I95F 283A>T MALY-DE 3 141464108 141464108 single base substitution A T upstream_gene_variant MALY-DE 3 141464507 141464507 single base substitution A G 3_prime_UTR_variant MALY-DE 3 141464507 141464507 single base substitution A G downstream_gene_variant MALY-DE 3 141464507 141464507 single base substitution A G upstream_gene_variant MELA-AU 3 141452108 141452108 single base substitution G A upstream_gene_variant MELA-AU 3 141452214 141452214 single base substitution G A upstream_gene_variant MELA-AU 3 141452279 141452279 single base substitution C T upstream_gene_variant MELA-AU 3 141452474 141452474 single base substitution G A upstream_gene_variant MELA-AU 3 141452824 141452824 single base substitution G A upstream_gene_variant MELA-AU 3 141452883 141452883 single base substitution G A upstream_gene_variant MELA-AU 3 141452889 141452889 single base substitution G A upstream_gene_variant MELA-AU 3 141452928 141452928 single base substitution G A upstream_gene_variant MELA-AU 3 141453168 141453168 single base substitution C T upstream_gene_variant MELA-AU 3 141453388 141453388 single base substitution C T upstream_gene_variant MELA-AU 3 141453402 141453402 single base substitution G A upstream_gene_variant MELA-AU 3 141453467 141453467 single base substitution G A upstream_gene_variant MELA-AU 3 141453778 141453778 single base substitution G A upstream_gene_variant MELA-AU 3 141453874 141453874 single base substitution G A upstream_gene_variant MELA-AU 3 141454255 141454255 single base substitution C T upstream_gene_variant MELA-AU 3 141454256 141454256 single base substitution C T upstream_gene_variant MELA-AU 3 141454658 141454658 single base substitution C T upstream_gene_variant MELA-AU 3 141455136 141455136 single base substitution C T upstream_gene_variant MELA-AU 3 141455318 141455318 single base substitution C T upstream_gene_variant MELA-AU 3 141455335 141455335 single base substitution C T upstream_gene_variant MELA-AU 3 141455546 141455546 single base substitution C T upstream_gene_variant MELA-AU 3 141455665 141455665 single base substitution C T upstream_gene_variant MELA-AU 3 141455960 141455960 single base substitution C T upstream_gene_variant MELA-AU 3 141456997 141456998 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 3 141457014 141457014 single base substitution G A upstream_gene_variant MELA-AU 3 141457024 141457024 single base substitution C T upstream_gene_variant MELA-AU 3 141457199 141457199 single base substitution G T exon_variant MELA-AU 3 141457199 141457199 single base substitution G T missense_variant D6Y 16G>T MELA-AU 3 141457220 141457220 single base substitution C T exon_variant MELA-AU 3 141457220 141457220 single base substitution C T synonymous_variant L13L 37C>T MELA-AU 3 141457529 141457529 single base substitution G T intron_variant MELA-AU 3 141457683 141457683 single base substitution C T intron_variant MELA-AU 3 141457971 141457971 single base substitution C A intron_variant MELA-AU 3 141458540 141458540 single base substitution C T intron_variant MELA-AU 3 141459400 141459400 single base substitution T C intron_variant MELA-AU 3 141459977 141459977 single base substitution C T intron_variant MELA-AU 3 141459977 141459977 single base substitution C T upstream_gene_variant MELA-AU 3 141460456 141460456 single base substitution C T intron_variant MELA-AU 3 141460456 141460456 single base substitution C T upstream_gene_variant MELA-AU 3 141460651 141460651 single base substitution T G intron_variant MELA-AU 3 141460651 141460651 single base substitution T G upstream_gene_variant MELA-AU 3 141461474 141461474 single base substitution C T intron_variant MELA-AU 3 141461474 141461474 single base substitution C T upstream_gene_variant MELA-AU 3 141461769 141461769 single base substitution A C exon_variant MELA-AU 3 141461769 141461769 single base substitution A C intron_variant MELA-AU 3 141461769 141461769 single base substitution A C upstream_gene_variant MELA-AU 3 141462979 141462979 single base substitution T G downstream_gene_variant MELA-AU 3 141462979 141462979 single base substitution T G intron_variant MELA-AU 3 141462979 141462979 single base substitution T G upstream_gene_variant MELA-AU 3 141462987 141462987 single base substitution C T downstream_gene_variant MELA-AU 3 141462987 141462987 single base substitution C T intron_variant MELA-AU 3 141462987 141462987 single base substitution C T upstream_gene_variant MELA-AU 3 141463093 141463093 single base substitution C T downstream_gene_variant MELA-AU 3 141463093 141463093 single base substitution C T intron_variant MELA-AU 3 141463093 141463093 single base substitution C T upstream_gene_variant MELA-AU 3 141464980 141464981 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 3 141464980 141464981 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 3 141464980 141464981 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 141465870 141465870 single base substitution T A 3_prime_UTR_variant MELA-AU 3 141465870 141465870 single base substitution T A downstream_gene_variant MELA-AU 3 141466302 141466302 single base substitution C T 3_prime_UTR_variant MELA-AU 3 141466302 141466302 single base substitution C T downstream_gene_variant MELA-AU 3 141466600 141466600 single base substitution C T downstream_gene_variant MELA-AU 3 141466618 141466618 single base substitution G A downstream_gene_variant MELA-AU 3 141466642 141466642 single base substitution C T downstream_gene_variant MELA-AU 3 141466973 141466973 single base substitution C T downstream_gene_variant MELA-AU 3 141466986 141466986 single base substitution A C downstream_gene_variant MELA-AU 3 141467101 141467101 single base substitution G A downstream_gene_variant MELA-AU 3 141467834 141467834 single base substitution G A downstream_gene_variant MELA-AU 3 141468019 141468019 single base substitution G A downstream_gene_variant MELA-AU 3 141468237 141468237 single base substitution C T downstream_gene_variant MELA-AU 3 141468941 141468941 single base substitution A C downstream_gene_variant MELA-AU 3 141469052 141469052 single base substitution C T downstream_gene_variant MELA-AU 3 141469150 141469150 single base substitution C T downstream_gene_variant MELA-AU 3 141469259 141469259 single base substitution C T downstream_gene_variant MELA-AU 3 141470602 141470602 single base substitution C G downstream_gene_variant MELA-AU 3 141470607 141470607 single base substitution C T downstream_gene_variant MELA-AU 3 141470623 141470623 single base substitution C T downstream_gene_variant MELA-AU 3 141471091 141471091 single base substitution C T downstream_gene_variant OV-AU 3 141455084 141455084 single base substitution C T upstream_gene_variant OV-AU 3 141457073 141457073 single base substitution G T 5_prime_UTR_premature_start_codon_gain_variant OV-AU 3 141457073 141457073 single base substitution G T upstream_gene_variant OV-AU 3 141462383 141462383 single base substitution C G 3_prime_UTR_variant OV-AU 3 141462383 141462383 single base substitution C G downstream_gene_variant OV-AU 3 141462383 141462383 single base substitution C G intron_variant OV-AU 3 141462383 141462383 single base substitution C G missense_variant N67K 201C>G OV-AU 3 141462383 141462383 single base substitution C G missense_variant Q70E 208C>G OV-AU 3 141462383 141462383 single base substitution C G upstream_gene_variant OV-AU 3 141470075 141470075 single base substitution G C downstream_gene_variant PACA-AU 3 141455592 141455592 single base substitution C A upstream_gene_variant PACA-AU 3 141457024 141457024 single base substitution C T upstream_gene_variant PACA-AU 3 141461348 141461348 single base substitution G A intron_variant PACA-AU 3 141461348 141461348 single base substitution G A upstream_gene_variant PACA-AU 3 141462357 141462357 single base substitution G C 3_prime_UTR_variant PACA-AU 3 141462357 141462357 single base substitution G C downstream_gene_variant PACA-AU 3 141462357 141462357 single base substitution G C intron_variant PACA-AU 3 141462357 141462357 single base substitution G C missense_variant C61S 182G>C PACA-AU 3 141462357 141462357 single base substitution G C missense_variant V59L 175G>C PACA-AU 3 141462357 141462357 single base substitution G C upstream_gene_variant PACA-AU 3 141463925 141463925 single base substitution T G downstream_gene_variant PACA-AU 3 141463925 141463925 single base substitution T G intron_variant PACA-AU 3 141463925 141463925 single base substitution T G upstream_gene_variant PACA-AU 3 141468028 141468028 single base substitution T A downstream_gene_variant PACA-AU 3 141468977 141468977 single base substitution G T downstream_gene_variant PACA-CA 3 141454761 141454761 single base substitution C T upstream_gene_variant PACA-CA 3 141456538 141456538 single base substitution A G upstream_gene_variant PACA-CA 3 141456990 141456990 single base substitution C T upstream_gene_variant PAEN-AU 3 141466647 141466647 single base substitution T C downstream_gene_variant PAEN-IT 3 141456175 141456175 single base substitution G T upstream_gene_variant PBCA-DE 3 141453529 141453530 deletion of <=200bp GT - upstream_gene_variant PBCA-DE 3 141455290 141455290 single base substitution C T upstream_gene_variant PBCA-DE 3 141465036 141465036 single base substitution C G 3_prime_UTR_variant PBCA-DE 3 141465036 141465036 single base substitution C G downstream_gene_variant PBCA-DE 3 141465036 141465036 single base substitution C G intron_variant PRAD-CA 3 141470671 141470671 single base substitution G T downstream_gene_variant PRAD-UK 3 141457493 141457493 single base substitution C T intron_variant SKCA-BR 3 141454256 141454256 single base substitution C T upstream_gene_variant SKCA-BR 3 141454465 141454465 single base substitution C T upstream_gene_variant SKCA-BR 3 141455016 141455016 single base substitution A C upstream_gene_variant SKCA-BR 3 141455090 141455090 single base substitution T C upstream_gene_variant SKCA-BR 3 141455268 141455268 single base substitution C A upstream_gene_variant SKCA-BR 3 141455391 141455393 deletion of <=200bp CAT - upstream_gene_variant SKCA-BR 3 141456649 141456649 single base substitution C T upstream_gene_variant SKCA-BR 3 141456854 141456854 single base substitution C T upstream_gene_variant SKCA-BR 3 141462037 141462037 single base substitution T G downstream_gene_variant SKCA-BR 3 141462037 141462037 single base substitution T G intron_variant SKCA-BR 3 141462037 141462037 single base substitution T G upstream_gene_variant SKCA-BR 3 141467006 141467006 insertion of <=200bp - CG downstream_gene_variant SKCA-BR 3 141468778 141468778 single base substitution C T downstream_gene_variant SKCM-US 3 141462360 141462360 single base substitution T G 3_prime_UTR_variant SKCM-US 3 141462360 141462360 single base substitution T G downstream_gene_variant SKCM-US 3 141462360 141462360 single base substitution T G intron_variant SKCM-US 3 141462360 141462360 single base substitution T G missense_variant L60V 178T>G SKCM-US 3 141462360 141462360 single base substitution T G missense_variant L62R 185T>G SKCM-US 3 141462360 141462360 single base substitution T G upstream_gene_variant STAD-US 3 141457324 141457324 single base substitution C T exon_variant STAD-US 3 141457324 141457324 single base substitution C T synonymous_variant C47C 141C>T THCA-US 3 141462360 141462360 single base substitution T G 3_prime_UTR_variant THCA-US 3 141462360 141462360 single base substitution T G downstream_gene_variant THCA-US 3 141462360 141462360 single base substitution T G intron_variant THCA-US 3 141462360 141462360 single base substitution T G missense_variant L60V 178T>G THCA-US 3 141462360 141462360 single base substitution T G missense_variant L62R 185T>G THCA-US 3 141462360 141462360 single base substitution T G upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-E2-A105-01 COSM442501 c.457G>C p.V153L Substitution - Missense 2:233327142-233327142 + TCGA-BR-8680-01 COSM4092472 c.831T>G p.T277T Substitution - coding silent 2:233334986-233334986 + HCC032T COSM5809263 c.533T>A p.I178N Substitution - Missense 2:233328498-233328498 + TCGA-AX-A0J0-01 COSM1018003 c.1175A>C p.E392A Substitution - Missense 2:233346869-233346869 + TCGA-AD-6889-01 COSM1406349 c.337delA p.K114fs*11 Deletion - Frameshift 2:233320785-233320785 + BCM375T COSM4951036 c.223G>T p.D75Y Substitution - Missense 2:233320671-233320671 + TCGA-14-0862-01 COSM3407680 c.519C>T p.S173S Substitution - coding silent 2:233328484-233328484 + TCGA-EE-A2GI-06 COSM1685018 c.524G>A p.R175Q Substitution - Missense 2:233328489-233328489 + TCGA-39-5028-01 COSM729010 c.279G>A p.V93V Substitution - coding silent 3:141745214-141745214 + HN_62756 COSM127188 c.75+1G>A p.? Unknown 2:233309265-233309265 + LUAD-TLLGS COSM347628 c.931G>A p.A311T Substitution - Missense 2:233335086-233335086 + CHC892T COSM4958567 c.589G>A p.A197T Substitution - Missense 2:233328554-233328554 + AOCS-034-1-0 COSM4136959 c.208C>G p.Q70E Substitution - Missense 3:141743541-141743541 + PD6413a COSM5799675 c.1099C>A p.P367T Substitution - Missense 2:233342323-233342323 + TCGA-EE-A2MR-06 COSM3579243 c.1108G>A p.E370K Substitution - Missense 2:233346408-233346408 + PT20_1 COSM1733976 c.484G>A p.D162N Substitution - Missense 2:233327169-233327169 + TCGA-D3-A3C1-06 COSM1685018 c.524G>A p.R175Q Substitution - Missense 2:233328489-233328489 + PC-9BRc1 COSM1685018 c.524G>A p.R175Q Substitution - Missense 2:233328489-233328489 + CRC-05T COSM5468529 c.825C>A p.N275K Substitution - Missense 2:233334980-233334980 + TCGA-EJ-7782-01 COSM3049916 c.577C>T p.R193* Substitution - Nonsense 2:233328542-233328542 + TCGA-D3-A51G-06 COSM3579237 c.732C>T p.F244F Substitution - coding silent 2:233329576-233329576 + TCGA-BP-5187-01 COSM477093 c.538A>G p.K180E Substitution - Missense 2:233328503-233328503 + TCGA-BR-8680-01 COSM4092468 c.74C>T p.S25L Substitution - Missense 2:233309263-233309263 + BCM375T COSM4951036 c.223G>T p.D75Y Substitution - Missense 2:233320671-233320671 + 2_PRE-TREATMENT COSM1722644 c.977G>A p.G326E Substitution - Missense 2:233338708-233338708 + MAVER-1 COSM1738759 c.133G>A p.V45M Substitution - Missense 2:233316132-233316132 + TCGA-FS-A1ZZ-06 COSM3579239 c.952G>A p.E318K Substitution - Missense 2:233338683-233338683 + TCGA-MI-A75G-01 COSM4939982 c.65G>T p.R22L Substitution - Missense 2:233309254-233309254 + 8043971 COSM3391579 c.742G>T p.V248L Substitution - Missense 2:233331648-233331648 + TCGA-EE-A29V-06 COSM1685018 c.524G>A p.R175Q Substitution - Missense 2:233328489-233328489 + HN_62421 COSM125902 c.235G>C p.E79Q Substitution - Missense 3:141745170-141745170 + TCGA-EE-A2M5-06 COSM3579231 c.29C>T p.S10F Substitution - Missense 2:233309218-233309218 + TCGA-DS-A1OC-01 COSM1294091 c.296G>C p.C99S Substitution - Missense 3:141745231-141745231 + TCGA-HU-A4H8-01 COSM4092474 c.970G>A p.V324I Substitution - Missense 2:233338701-233338701 + 9227_T COSM5042723 c.535C>T p.R179C Substitution - Missense 2:233328500-233328500 + TCGA-DV-5575-01 COSM3364644 c.735G>A p.V245V Substitution - coding silent 2:233331641-233331641 + TCGA-G9-6366-01 COSM1471249 c.552C>T p.A184A Substitution - coding silent 2:233328517-233328517 + HX27T COSM3709491 c.512+9A>T p.? Unknown 2:233327206-233327206 + TCGA-DM-A28M-01 COSM3695848 c.116C>T p.A39V Substitution - Missense 3:141738457-141738457 + ACINAR28 COSM1733976 c.484G>A p.D162N Substitution - Missense 2:233327169-233327169 + S02294 COSM5688817 c.374C>T p.T125M Substitution - Missense 2:233320822-233320822 + TCGA-BH-A18G-01 COSM3838876 c.202G>A p.A68T Substitution - Missense 2:233320650-233320650 + TCGA-B0-5709-01 COSM477091 c.464C>T p.A155V Substitution - Missense 2:233327149-233327149 + TCGA-D9-A6EA-06 COSM4397958 c.1030G>A p.G344R Substitution - Missense 2:233340462-233340462 + TCGA-DR-A0ZM-01 COSM461114 c.1180G>A p.E394K Substitution - Missense 2:233346874-233346874 + TCGA-HT-A4DS-01 COSM3972103 c.510G>C p.K170N Substitution - Missense 2:233327195-233327195 + SNUH_G45_S1 COSM3758035 c.489C>T p.A163A Substitution - coding silent 2:233327174-233327174 + TCGA-HU-A4GT-01 COSM1733978 c.778G>A p.V260I Substitution - Missense 2:233331684-233331684 + 12M COSM5577720 c.13G>A p.G5R Substitution - Missense 2:233309202-233309202 + 2492701 COSM5600413 c.1187G>A p.G396E Substitution - Missense 2:233346881-233346881 + PD11368a COSM5786318 c.318G>A p.W106* Substitution - Nonsense 3:141745253-141745253 + 8057543 COSM3391579 c.742G>T p.V248L Substitution - Missense 2:233331648-233331648 + ACINAR01 COSM1733978 c.778G>A p.V260I Substitution - Missense 2:233331684-233331684 + tumor_4111326 COSM5950066 c.331A>T p.I111F Substitution - Missense 3:141745266-141745266 + PD11750a COSM5786482 c.75G>A p.S25S Substitution - coding silent 2:233309264-233309264 + CSCC-27-T COSM4491389 c.379C>T p.P127S Substitution - Missense 2:233322949-233322949 + TCGA-A1-A0SI-01 COSM3846394 c.303C>G p.L101L Substitution - coding silent 3:141745238-141745238 + RKO COSM3049896 c.199T>C p.C67R Substitution - Missense 2:233320647-233320647 + TARGET-30-PASWIJ COSM1287744 c.1114T>A p.Y372N Substitution - Missense 2:233346808-233346808 + SC_9089 COSM5551241 c.150C>T p.C50C Substitution - coding silent 3:141738491-141738491 + TCGA-AX-A0J1-01 COSM1017991 c.888C>T p.G296G Substitution - coding silent 2:233335043-233335043 + 587376 COSM1224026 c.209A>G p.Q70R Substitution - Missense 3:141743542-141743542 + TCGA-D1-A16X-01 COSM1017993 c.951G>A p.K317K Substitution - coding silent 2:233338682-233338682 + T3080 COSM3695848 c.116C>T p.A39V Substitution - Missense 3:141738457-141738457 + 2492702 COSM5600413 c.1187G>A p.G396E Substitution - Missense 2:233346881-233346881 + TCGA-AP-A0LM-01 COSM1017995 c.1022+1G>A p.? Unknown 2:233338754-233338754 + BD242T COSM5495791 c.224-3C>T p.? Unknown 3:141745156-141745156 + Au2 COSM5600413 c.1187G>A p.G396E Substitution - Missense 2:233346881-233346881 + TCGA-EE-A2GO-06 COSM3579233 c.575C>T p.P192L Substitution - Missense 2:233328540-233328540 + TCGA-EE-A2MC-06 COSM3579241 c.976G>A p.G326R Substitution - Missense 2:233338707-233338707 + TCGA-BS-A0UF-01 COSM1017999 c.1119G>T p.Q373H Substitution - Missense 2:233346813-233346813 + TCGA-HU-A4GU-01 COSM4092470 c.787G>A p.V263M Substitution - Missense 2:233331693-233331693 + S02246 COSM5679025 c.357G>T p.T119T Substitution - coding silent 2:233320805-233320805 + TCGA-BR-4257-01 COSM4114075 c.141C>T p.C47C Substitution - coding silent 3:141738482-141738482 + TCGA-BF-A1Q0-01 COSM3579245 c.1140G>A p.E380E Substitution - coding silent 2:233346834-233346834 + EGC15 COSM5058746 c.250C>T p.R84C Substitution - Missense 2:233320698-233320698 + TCGA-25-2042-01 COSM86919 c.616C>A p.P206T Substitution - Missense 2:233328581-233328581 + TCGA-CU-A3KJ-01 COSM1308672 c.179C>T p.A60V Substitution - Missense 3:141743512-141743512 + MO_1176 COSM5555447 c.1188G>T p.G396G Substitution - coding silent 2:233346882-233346882 + TCGA-AX-A0J1-01 COSM1017985 c.550G>A p.A184T Substitution - Missense 2:233328515-233328515 + SC_9047 COSM5551415 c.295T>C p.C99R Substitution - Missense 3:141745230-141745230 + 0005_CRUK_PC_0005_T1_DNA COSM5423361 c.232G>A p.V78M Substitution - Missense 2:233320680-233320680 + AOCS-034-3-8 COSM4136959 c.208C>G p.Q70E Substitution - Missense 3:141743541-141743541 + SC_9047 COSM5558926 c.620T>C p.L207P Substitution - Missense 2:233328585-233328585 + TCGA-A5-A0VP-01 COSM1017997 c.1086T>C p.P362P Substitution - coding silent 2:233342310-233342310 + 032-0069-01TD COSM1317089 c.1054G>A p.A352T Substitution - Missense 2:233342278-233342278 + TCGA-CM-5348-01 COSM1419583 c.197C>T p.A66V Substitution - Missense 3:141743530-141743530 + TCGA-ET-A3BT-01 COSM3373036 c.185T>G p.L62R Substitution - Missense 3:141743518-141743518 + TCGA-A7-A26J-01 COSM3838878 c.440G>T p.C147F Substitution - Missense 2:233327125-233327125 + CHC892T COSM4958567 c.589G>A p.A197T Substitution - Missense 2:233328554-233328554 + 8016470 COSM3391577 c.251G>A p.R84H Substitution - Missense 2:233320699-233320699 + PT36 COSM1406347 c.65G>A p.R22Q Substitution - Missense 2:233309254-233309254 + C086 COSM5538510 c.1021G>A p.G341S Substitution - Missense 2:233338752-233338752 + TCGA-AM-5821-01 COSM3758035 c.489C>T p.A163A Substitution - coding silent 2:233327174-233327174 + TCGA-AD-6895-01 COSM1406347 c.65G>A p.R22Q Substitution - Missense 2:233309254-233309254 + TCGA-AP-A059-01 COSM1017987 c.674C>A p.P225H Substitution - Missense 2:233329518-233329518 + CSCC-44-T COSM4555225 c.646G>A p.E216K Substitution - Missense 2:233328611-233328611 + CSCC-20-T COSM4460116 c.1153C>T p.H385Y Substitution - Missense 2:233346847-233346847 + ESO-D76 COSM1264814 c.7G>A p.A3T Substitution - Missense 2:233309196-233309196 + 2492700 COSM5600413 c.1187G>A p.G396E Substitution - Missense 2:233346881-233346881 + DLD1 COSM3049926 c.741G>T p.Q247H Substitution - Missense 2:233331647-233331647 + TCGA-EB-A5SE-01 COSM3579235 c.668C>T p.P223L Substitution - Missense 2:233329512-233329512 + HCT15 COSM3049918 c.597G>A p.Q199Q Substitution - coding silent 2:233328562-233328562 + 61 COSM5736461 c.181G>T p.V61L Substitution - Missense 2:233318795-233318795 + TCGA-EE-A29M-06 COSM3579231 c.29C>T p.S10F Substitution - Missense 2:233309218-233309218 + MO_1176 COSM5558036 c.1189A>C p.K397Q Substitution - Missense 2:233346883-233346883 + TCGA-BS-A0UF-01 COSM1018001 c.1136T>G p.F379C Substitution - Missense 2:233346830-233346830 + TCGA-EW-A1J5-01 COSM1482883 c.534C>T p.I178I Substitution - coding silent 2:233328499-233328499 + TCGA-CK-4950-01 COSM1406353 c.550G>T p.A184S Substitution - Missense 2:233328515-233328515 + PTC-10C COSM3758035 c.489C>T p.A163A Substitution - coding silent 2:233327174-233327174 + CSCC-6-T COSM4566368 c.136_136+1GG>AA p.? Unknown 2:233316135-233316136 + 452 COSM4435861 c.512+2_512+3insT p.? Unknown 2:233327199-233327200 + 8016583 COSM3392093 c.182G>C p.C61S Substitution - Missense 3:141743515-141743515 + TCGA-CJ-5675-01 COSM479515 c.184C>G p.L62V Substitution - Missense 3:141743517-141743517 + YUKAT COSM5396497 c.432G>A p.G144G Substitution - coding silent 2:233323002-233323002 + 631060 COSM323184 c.86A>G p.Y29C Substitution - Missense 2:233316085-233316085 + TCGA-BS-A0UF-01 COSM1017989 c.843G>A p.T281T Substitution - coding silent 2:233334998-233334998 + CSCC-40-T COSM1685018 c.524G>A p.R175Q Substitution - Missense 2:233328489-233328489 + 2492703 COSM5600413 c.1187G>A p.G396E Substitution - Missense 2:233346881-233346881 + SC_9092 COSM5550084 c.151G>A p.A51T Substitution - Missense 3:141738492-141738492 + TCGA-CM-5348-01 COSM1419582 c.196G>A p.A66T Substitution - Missense 3:141743529-141743529 + TCGA-D9-A6EC-06 COSM3373036 c.185T>G p.L62R Substitution - Missense 3:141743518-141743518 + TCGA-UC-A7PF-01 COSM4830406 c.300C>T p.A100A Substitution - coding silent 2:233320748-233320748 + PT13 COSM5895602 c.172G>A p.G58R Substitution - Missense 2:233318786-233318786 + PT17_1 COSM5898793 c.215G>A p.G72D Substitution - Missense 2:233320663-233320663 + 93 COSM5011039 c.263A>G p.Y88C Substitution - Missense 2:233320711-233320711 + TCGA-F5-6814-01 COSM3426219 c.510G>T p.K170N Substitution - Missense 2:233327195-233327195 + ZZUFHECRKL-G028T COSM5437553 c.996G>A p.Q332Q Substitution - coding silent 2:233338727-233338727 + TCGA-AC-A23H-01 COSM3846395 c.341G>A p.*114* Substitution - coding silent 3:141745276-141745276 + T2950 COSM4723457 c.506C>T p.P169L Substitution - Missense 2:233327191-233327191 + S02139 COSM5674363 c.1117C>G p.Q373E Substitution - Missense 2:233346811-233346811 + HCT15 COSM3049926 c.741G>T p.Q247H Substitution - Missense 2:233331647-233331647 + HCT8 COSM3049926 c.741G>T p.Q247H Substitution - Missense 2:233331647-233331647 + TCGA-AS-3778-01 COSM1494877 c.1113-2A>T p.? Unknown 2:233346805-233346805 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.32721 2q37.1 181031 Hs.134611;Hs.134623 3q22-q24 603863

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer C G Missense p.S19R c.57C>G 3 141457240 LUAD C T Missense p.A60V c.179C>T 3 141462354 BLCA C T Synonymous p.C47C c.141C>T 3 141457324 STAD C T Synonymous p.S90S c.270C>T 3 141464047 CM G A 3-UTRSNV . c.339+48G>A 3 141464164 CM G A Synonymous p.V93V c.279G>A 3 141464056 LUSC G C Missense p.E79Q c.235G>C 3 141464012 HNSC G T SpliceDonorSNV . c.175+1G>T 3 141457359 LUAD T A IntronicSNV . c.176-608T>A 3 141461743 CLL T G Missense p.L62R c.185T>G 3 141462360 THCA A G IntronicSNV . c.1-57A>G 2 234217779 CM A G Missense p.K180E c.538A>G 2 234237149 RCCC A G Missense p.Y29C c.86A>G 2 234224731 SCLC - A IntronicInsertion . c.181+797_181+798insA 2 234228238 CM A T IntronicSNV . c.1022+218A>T 2 234247617 CLL C A Missense p.L55I c.163C>A 2 234227423 LUAD C A Missense p.P206T c.616C>A 2 234237227 OV C A Missense p.Q93K c.277C>A 2 234229371 LUAD C T IntronicSNV . c.1102+1032C>T 2 234252004 PIA C T IntronicSNV . c.512+120C>T 2 234235963 CM C T IntronicSNV . c.513-53C>T 2 234237071 CM C T IntronicSNV . c.513-54C>T 2 234237070 CM C T IntronicSNV . c.649-38C>T 2 234238101 CM C T IntronicSNV . c.807-115C>T 2 234243493 CM C T IntronicSNV . c.807-21C>T 2 234243587 CM C T Missense p.A155V c.464C>T 2 234235795 RCCC C T Missense p.P192L c.575C>T 2 234237186 CM C T Missense p.R358C c.1072C>T 2 234250942 CM C T Missense p.S10F c.29C>T 2 234217864 CM C T Synonymous p.A184A c.552C>T 2 234237163 PRAD C T Synonymous p.S173S c.519C>T 2 234237130 GBM G A IntronicSNV . c.806+31G>A 2 234240389 CM G A Missense p.A3T c.7G>A 2 234217842 ESCA G A Missense p.E216K c.646G>A 2 234237257 CM G A Missense p.E318K c.952G>A 2 234247329 CM G A Missense p.G326R c.976G>A 2 234247353 CM G A Missense p.R175Q c.524G>A 2 234237135 CM G A SpliceDonorSNV . c.75+1G>A 2 234217911 HNSC G A Synonymous p.E380E c.1140G>A 2 234255480 CM G A Synonymous p.G301G c.903G>A 2 234243704 CM G A Synonymous p.G396G c.1188G>A 2 234255528 CM G A Synonymous p.V245V c.735G>A 2 234240287 RCCC G C IntronicSNV . c.182-679G>C 2 234228597 HC G C Missense p.V153L c.457G>C 2 234235788 BRCA G T SpliceAcceptorSNV . c.1-29G>T 2 234217807 LUAD T A Missense p.Y372N c.1114T>A 2 234255454 NB T C IntronicSNV . c.512+72T>C 2 234235915 CM T C IntronicSNV . c.513-361T>C 2 234236763 MB T C Synonymous p.P362P c.1086T>C 2 234250956 UCEC TGA - IntronicDeletion . c.1022+215_1022+217delTGA 2 234247614 CLL T G IntronicSNV . c.512+396T>G 2 234236239 HC