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 1 62910742 62910742 + Missense_Mutation SNP G G C TCGA-4Z-AA7Q-01A-11D-A391-08 TCGA-4Z-AA7Q-10A-01D-A394-08 g.chr1:62910742G>C c.891G>C c.(889-891)caG>caC p.Q297H BLCA 1 62910819 62910819 + Missense_Mutation SNP C C G TCGA-BT-A3PK-01A-21D-A21Z-08 TCGA-BT-A3PK-10A-01D-A21Z-08 g.chr1:62910819C>G c.968C>G c.(967-969)tCt>tGt p.S323C BLCA 1 62913167 62913167 + Missense_Mutation SNP G G C TCGA-DK-AA6L-01A-11D-A391-08 TCGA-DK-AA6L-10A-01D-A394-08 g.chr1:62913167G>C c.1405G>C c.(1405-1407)Gag>Cag p.E469Q BLCA 1 62914230 62914230 + Silent SNP C C T TCGA-4Z-AA7Q-01A-11D-A391-08 TCGA-4Z-AA7Q-10A-01D-A394-08 g.chr1:62914230C>T c.1515C>T c.(1513-1515)ttC>ttT p.F505F BLCA 1 62916526 62916526 + Missense_Mutation SNP G G C TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 g.chr1:62916526G>C c.2232G>C c.(2230-2232)gaG>gaC p.E744D BLCA 1 62916591 62916591 + Missense_Mutation SNP C C T TCGA-E5-A4TZ-01A-11D-A31L-08 TCGA-E5-A4TZ-10B-01D-A31J-08 g.chr1:62916591C>T c.2297C>T c.(2296-2298)tCt>tTt p.S766F BRCA 1 62905637 62905637 + Silent SNP T T G TCGA-A2-A25E-01A-11D-A167-09 TCGA-A2-A25E-10A-01D-A167-09 g.chr1:62905637T>G c.99T>G c.(97-99)acT>acG p.T33T BRCA 1 62905665 62905665 + Missense_Mutation SNP C C G TCGA-AC-A3W6-01A-12D-A228-09 TCGA-AC-A3W6-10A-01D-A22A-09 g.chr1:62905665C>G c.127C>G c.(127-129)Caa>Gaa p.Q43E BRCA 1 62910497 62910497 + Nonsense_Mutation SNP C C T TCGA-E9-A1RE-01A-11D-A159-09 TCGA-E9-A1RE-10A-01D-A159-09 g.chr1:62910497C>T c.646C>T c.(646-648)Caa>Taa p.Q216* BRCA 1 62910505 62910505 + Frame_Shift_Del DEL A A - TCGA-AO-A128-01A-11D-A10M-09 TCGA-AO-A128-10A-01D-A10M-09 g.chr1:62910505delA c.654delA c.(652-654)ctafs p.L218fs BRCA 1 62910521 62910521 + Missense_Mutation SNP A A G TCGA-AN-A0AL-01A-11W-A019-09 TCGA-AN-A0AL-10A-01W-A021-09 g.chr1:62910521A>G c.670A>G c.(670-672)Aaa>Gaa p.K224E BRCA 1 62914231 62914231 + Missense_Mutation SNP T T A TCGA-A2-A04U-01A-11D-A10Y-09 TCGA-A2-A04U-10A-01D-A110-09 g.chr1:62914231T>A c.1516T>A c.(1516-1518)Tgt>Agt p.C506S BRCA 1 62916175 62916175 + Missense_Mutation SNP G G T TCGA-BH-A0C0-01A-21W-A071-09 TCGA-BH-A0C0-11A-21W-A100-09 g.chr1:62916175G>T c.1881G>T c.(1879-1881)ttG>ttT p.L627F CESC 1 62907935 62907935 + Missense_Mutation SNP G G A TCGA-JX-A3PZ-01A-11D-A21Q-09 TCGA-JX-A3PZ-10A-01D-A21Q-09 g.chr1:62907935G>A c.361G>A c.(361-363)Gaa>Aaa p.E121K CESC 1 62910563 62910563 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 g.chr1:62910563C>G c.712C>G c.(712-714)Cat>Gat p.H238D CESC 1 62910594 62910594 + Missense_Mutation SNP G G T TCGA-C5-A7UC-01A-11D-A351-09 TCGA-C5-A7UC-10A-01D-A351-09 g.chr1:62910594G>T c.743G>T c.(742-744)aGc>aTc p.S248I CESC 1 62916624 62916624 + Missense_Mutation SNP C C T TCGA-C5-A1MN-01A-11D-A14W-08 TCGA-C5-A1MN-10A-01D-A14W-08 g.chr1:62916624C>T c.2330C>T c.(2329-2331)cCt>cTt p.P777L COAD 1 62905615 62905615 + Missense_Mutation SNP A A C TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr1:62905615A>C c.77A>C c.(76-78)aAg>aCg p.K26T COAD 1 62916017 62916017 + Missense_Mutation SNP A A G TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr1:62916017A>G c.1723A>G c.(1723-1725)Agc>Ggc p.S575G COAD 1 62916017 62916017 + Missense_Mutation SNP A A G TCGA-AY-6196-01A-11D-1719-10 TCGA-AY-6196-10A-01D-1719-10 g.chr1:62916017A>G c.1723A>G c.(1723-1725)Agc>Ggc p.S575G COAD 1 62916017 62916017 + Missense_Mutation SNP A A G TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr1:62916017A>G c.1723A>G c.(1723-1725)Agc>Ggc p.S575G COAD 1 62916019 62916019 + Missense_Mutation SNP C C G TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr1:62916019C>G c.1725C>G c.(1723-1725)agC>agG p.S575R COAD 1 62916272 62916272 + Frame_Shift_Del DEL A A - TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr1:62916272delA c.1978delA c.(1978-1980)aaafs p.K661fs COAD 1 62916312 62916312 + Missense_Mutation SNP A A C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:62916312A>C c.2018A>C c.(2017-2019)aAg>aCg p.K673T COAD 1 62916320 62916320 + Missense_Mutation SNP G G A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr1:62916320G>A c.2026G>A c.(2026-2028)Gca>Aca p.A676T COAD 1 62916519 62916519 + Missense_Mutation SNP A A G TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chr1:62916519A>G c.2225A>G c.(2224-2226)gAg>gGg p.E742G COADREAD 1 62905615 62905615 + Missense_Mutation SNP A A C TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr1:62905615A>C c.77A>C c.(76-78)aAg>aCg p.K26T COADREAD 1 62911000 62911000 + Silent SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:62911000G>A c.1149G>A c.(1147-1149)ggG>ggA p.G383G COADREAD 1 62916017 62916017 + Missense_Mutation SNP A A G TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr1:62916017A>G c.1723A>G c.(1723-1725)Agc>Ggc p.S575G COADREAD 1 62916017 62916017 + Missense_Mutation SNP A A G TCGA-AY-6196-01A-11D-1719-10 TCGA-AY-6196-10A-01D-1719-10 g.chr1:62916017A>G c.1723A>G c.(1723-1725)Agc>Ggc p.S575G COADREAD 1 62916017 62916017 + Missense_Mutation SNP A A G TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr1:62916017A>G c.1723A>G c.(1723-1725)Agc>Ggc p.S575G COADREAD 1 62916019 62916019 + Missense_Mutation SNP C C G TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr1:62916019C>G c.1725C>G c.(1723-1725)agC>agG p.S575R COADREAD 1 62916272 62916272 + Frame_Shift_Del DEL A A - TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr1:62916272delA c.1978delA c.(1978-1980)aaafs p.K661fs COADREAD 1 62916312 62916312 + Missense_Mutation SNP A A C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:62916312A>C c.2018A>C c.(2017-2019)aAg>aCg p.K673T COADREAD 1 62916320 62916320 + Missense_Mutation SNP G G A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr1:62916320G>A c.2026G>A c.(2026-2028)Gca>Aca p.A676T COADREAD 1 62916519 62916519 + Missense_Mutation SNP A A G TCGA-D5-6927-01A-21D-1924-10 TCGA-D5-6927-10A-01D-1924-10 g.chr1:62916519A>G c.2225A>G c.(2224-2226)gAg>gGg p.E742G ESCA 1 62907260 62907260 + Missense_Mutation SNP A A G TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 g.chr1:62907260A>G c.272A>G c.(271-273)tAt>tGt p.Y91C ESCA 1 62910645 62910645 + Missense_Mutation SNP C C T TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 g.chr1:62910645C>T c.794C>T c.(793-795)cCa>cTa p.P265L ESCA 1 62916244 62916244 + Silent SNP A A T TCGA-IG-A6QS-01A-12D-A33E-09 TCGA-IG-A6QS-10B-01D-A33H-09 g.chr1:62916244A>T c.1950A>T c.(1948-1950)ggA>ggT p.G650G HNSC 1 62905655 62905655 + Missense_Mutation SNP C C G TCGA-CV-6942-01A-21D-2012-08 TCGA-CV-6942-10A-01D-2013-08 g.chr1:62905655C>G c.117C>G c.(115-117)ttC>ttG p.F39L HNSC 1 62907261 62907261 + Silent SNP T T C TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 g.chr1:62907261T>C c.273T>C c.(271-273)taT>taC p.Y91Y HNSC 1 62908868 62908868 + Silent SNP G G A TCGA-BB-4223-01A-01D-1434-08 TCGA-BB-4223-10A-01D-1434-08 g.chr1:62908868G>A c.435G>A c.(433-435)ttG>ttA p.L145L HNSC 1 62910855 62910855 + Missense_Mutation SNP C C T TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 g.chr1:62910855C>T c.1004C>T c.(1003-1005)tCa>tTa p.S335L HNSC 1 62913122 62913122 + Nonsense_Mutation SNP C C T TCGA-IQ-A61I-01A-11D-A30E-08 TCGA-IQ-A61I-10A-01D-A30H-08 g.chr1:62913122C>T c.1360C>T c.(1360-1362)Caa>Taa p.Q454* HNSC 1 62915974 62915974 + Silent SNP T T A TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 g.chr1:62915974T>A c.1680T>A c.(1678-1680)ctT>ctA p.L560L HNSC 1 62916129 62916129 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr1:62916129A>G c.1835A>G c.(1834-1836)aAt>aGt p.N612S HNSC 1 62916495 62916495 + Missense_Mutation SNP C C T TCGA-CV-A45U-01A-12D-A24D-08 TCGA-CV-A45U-10A-01D-A24F-08 g.chr1:62916495C>T c.2201C>T c.(2200-2202)tCa>tTa p.S734L KIPAN 1 62911028 62911028 + Missense_Mutation SNP G G C TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 g.chr1:62911028G>C c.1177G>C c.(1177-1179)Ggt>Cgt p.G393R KIRC 1 62911028 62911028 + Missense_Mutation SNP G G C TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 g.chr1:62911028G>C c.1177G>C c.(1177-1179)Ggt>Cgt p.G393R LIHC 1 62910512 62910512 + Missense_Mutation SNP G G A TCGA-DD-A119-01A-11D-A12Z-10 TCGA-DD-A119-10A-01D-A12Z-10 g.chr1:62910512G>A c.661G>A c.(661-663)Gaa>Aaa p.E221K LIHC 1 62913095 62913095 + Missense_Mutation SNP A A G TCGA-FV-A495-01A-11D-A25V-10 TCGA-FV-A495-10A-01D-A25V-10 g.chr1:62913095A>G c.1333A>G c.(1333-1335)Agt>Ggt p.S445G LIHC 1 62914231 62914231 + Missense_Mutation SNP T T C TCGA-DD-A4NV-01A-11D-A30V-10 TCGA-DD-A4NV-10A-01D-A30V-10 g.chr1:62914231T>C c.1516T>C c.(1516-1518)Tgt>Cgt p.C506R LIHC 1 62916161 62916161 + Missense_Mutation SNP A A C TCGA-DD-A73F-01A-11D-A32G-10 TCGA-DD-A73F-10A-01D-A32G-10 g.chr1:62916161A>C c.1867A>C c.(1867-1869)Aag>Cag p.K623Q LUAD 1 62907238 62907238 + Missense_Mutation SNP A A G TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 g.chr1:62907238A>G c.250A>G c.(250-252)Aat>Gat p.N84D LUAD 1 62908936 62908936 + Missense_Mutation SNP A A G TCGA-91-7771-01A-11D-2167-08 TCGA-91-7771-10A-01D-2167-08 g.chr1:62908936A>G c.503A>G c.(502-504)gAg>gGg p.E168G LUAD 1 62908992 62908992 + Splice_Site SNP T T C TCGA-17-Z000-01A-01W-0746-08 TCGA-17-Z000-11A-01W-0746-08 g.chr1:62908992T>C c.e5+2 LUAD 1 62910485 62910485 + Missense_Mutation SNP C C G TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 g.chr1:62910485C>G c.634C>G c.(634-636)Caa>Gaa p.Q212E LUAD 1 62910726 62910726 + Nonsense_Mutation SNP C C G TCGA-50-5072-01A-21D-1855-08 TCGA-50-5072-10A-01D-1855-08 g.chr1:62910726C>G c.875C>G c.(874-876)tCa>tGa p.S292* LUAD 1 62913035 62913035 + Missense_Mutation SNP C C G TCGA-35-4123-01A-01D-1105-08 TCGA-35-4123-10A-01D-1105-08 g.chr1:62913035C>G c.1273C>G c.(1273-1275)Cta>Gta p.L425V LUAD 1 62915921 62915921 + Missense_Mutation SNP G G A TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 g.chr1:62915921G>A c.1627G>A c.(1627-1629)Gat>Aat p.D543N LUAD 1 62916040 62916040 + Silent SNP G G A TCGA-91-8499-01A-11D-2393-08 TCGA-91-8499-10A-01D-2393-08 g.chr1:62916040G>A c.1746G>A c.(1744-1746)gtG>gtA p.V582V LUAD 1 62916107 62916107 + Missense_Mutation SNP A A T TCGA-55-6985-01A-11D-1945-08 TCGA-55-6985-11A-01D-1945-08 g.chr1:62916107A>T c.1813A>T c.(1813-1815)Agt>Tgt p.S605C LUAD 1 62916272 62916272 + Frame_Shift_Del DEL A A - TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 g.chr1:62916272delA c.1978delA c.(1978-1980)aaafs p.K661fs LUAD 1 62916294 62916294 + Missense_Mutation SNP G G C TCGA-55-6970-01A-11D-1945-08 TCGA-55-6970-11A-01D-1945-08 g.chr1:62916294G>C c.2000G>C c.(1999-2001)gGa>gCa p.G667A LUSC 1 62916148 62916148 + Missense_Mutation SNP G G T TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 g.chr1:62916148G>T c.1854G>T c.(1852-1854)atG>atT p.M618I OV 1 62916019 62916019 + Missense_Mutation SNP C C G TCGA-13-0723-01A-02W-0372-09 TCGA-13-0723-10B-01W-0372-09 g.chr1:62916019C>G c.1725C>G c.(1723-1725)agC>agG p.S575R PAAD 1 62916272 62916272 + Frame_Shift_Del DEL A A - TCGA-HZ-A8P0-01A-11D-A36O-08 TCGA-HZ-A8P0-10A-01D-A367-08 g.chr1:62916272delA c.1978delA c.(1978-1980)aaafs p.K661fs READ 1 62911000 62911000 + Silent SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:62911000G>A c.1149G>A c.(1147-1149)ggG>ggA p.G383G SKCM 1 62910551 62910551 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 g.chr1:62910551G>A c.700G>A c.(700-702)Gaa>Aaa p.E234K SKCM 1 62911009 62911009 + Silent SNP A A G TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 g.chr1:62911009A>G c.1158A>G c.(1156-1158)gaA>gaG p.E386E SKCM 1 62914219 62914219 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 g.chr1:62914219G>A c.1504G>A c.(1504-1506)Gat>Aat p.D502N

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 1 62905655 62905655 single base substitution C T synonymous_variant F39F 117C>T BLCA-US 1 62916526 62916526 single base substitution G C missense_variant E744D 2232G>C BRCA-EU 1 62897927 62897927 single base substitution G A upstream_gene_variant BRCA-EU 1 62899737 62899737 single base substitution C G upstream_gene_variant BRCA-EU 1 62899797 62899797 single base substitution C T upstream_gene_variant BRCA-EU 1 62899908 62899908 single base substitution C G upstream_gene_variant BRCA-EU 1 62900012 62900012 single base substitution C A upstream_gene_variant BRCA-EU 1 62900190 62900191 deletion of <=200bp TC - upstream_gene_variant BRCA-EU 1 62900638 62900638 single base substitution T C upstream_gene_variant BRCA-EU 1 62901805 62901805 single base substitution A C upstream_gene_variant BRCA-EU 1 62901899 62901899 single base substitution G A upstream_gene_variant BRCA-EU 1 62902481 62902481 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 1 62902481 62902481 single base substitution C T intron_variant BRCA-EU 1 62902593 62902593 single base substitution G A 5_prime_UTR_variant BRCA-EU 1 62902593 62902593 single base substitution G A intron_variant BRCA-EU 1 62903174 62903174 single base substitution C G intron_variant BRCA-EU 1 62903494 62903494 deletion of <=200bp T - intron_variant BRCA-EU 1 62903758 62903758 single base substitution C G intron_variant BRCA-EU 1 62904221 62904221 single base substitution C T intron_variant BRCA-EU 1 62904774 62904774 single base substitution C T intron_variant BRCA-EU 1 62905327 62905327 single base substitution G C intron_variant BRCA-EU 1 62907224 62907224 single base substitution C T missense_variant P79L 236C>T BRCA-EU 1 62907303 62907303 single base substitution C G downstream_gene_variant BRCA-EU 1 62907303 62907303 single base substitution C G intron_variant BRCA-EU 1 62910090 62910090 single base substitution C G downstream_gene_variant BRCA-EU 1 62910090 62910090 single base substitution C G intron_variant BRCA-EU 1 62911648 62911648 single base substitution C G downstream_gene_variant BRCA-EU 1 62911648 62911648 single base substitution C G intron_variant BRCA-EU 1 62913279 62913279 deletion of <=200bp A - downstream_gene_variant BRCA-EU 1 62913279 62913279 deletion of <=200bp A - intron_variant BRCA-EU 1 62914103 62914103 single base substitution G C intron_variant BRCA-EU 1 62915538 62915538 single base substitution T C intron_variant BRCA-EU 1 62918258 62918258 single base substitution T C downstream_gene_variant BRCA-EU 1 62920344 62920345 deletion of <=200bp AG - downstream_gene_variant BRCA-EU 1 62920574 62920574 single base substitution T A downstream_gene_variant BRCA-EU 1 62921462 62921462 single base substitution T C downstream_gene_variant BRCA-FR 1 62907941 62907941 single base substitution C A downstream_gene_variant BRCA-FR 1 62907941 62907941 single base substitution C A missense_variant L123I 367C>A BRCA-FR 1 62910090 62910090 single base substitution C G downstream_gene_variant BRCA-FR 1 62910090 62910090 single base substitution C G intron_variant BRCA-FR 1 62918799 62918799 single base substitution C T downstream_gene_variant BRCA-UK 1 62921118 62921118 single base substitution G A downstream_gene_variant BRCA-US 1 62905637 62905637 single base substitution T G synonymous_variant T33T 99T>G BRCA-US 1 62905665 62905665 single base substitution C G missense_variant Q43E 127C>G BRCA-US 1 62910497 62910497 single base substitution C T downstream_gene_variant BRCA-US 1 62910497 62910497 single base substitution C T stop_gained Q216* 646C>T BRCA-US 1 62910505 62910505 deletion of <=200bp A - downstream_gene_variant BRCA-US 1 62910505 62910505 deletion of <=200bp A - frameshift_variant L218 BRCA-US 1 62910521 62910521 single base substitution A G downstream_gene_variant BRCA-US 1 62910521 62910521 single base substitution A G missense_variant K224E 670A>G BRCA-US 1 62914231 62914231 single base substitution T A missense_variant C506S 1516T>A BRCA-US 1 62916175 62916175 single base substitution G T missense_variant L627F 1881G>T BTCA-JP 1 62914264 62914264 single base substitution C T stop_gained R517* 1549C>T BTCA-JP 1 62916272 62916272 deletion of <=200bp A - frameshift_variant K660 BTCA-JP 1 62921169 62921169 single base substitution A G downstream_gene_variant CESC-US 1 62907935 62907935 single base substitution G A downstream_gene_variant CESC-US 1 62907935 62907935 single base substitution G A missense_variant E121K 361G>A CESC-US 1 62910563 62910563 single base substitution C G downstream_gene_variant CESC-US 1 62910563 62910563 single base substitution C G missense_variant H238D 712C>G CESC-US 1 62910594 62910594 single base substitution G T downstream_gene_variant CESC-US 1 62910594 62910594 single base substitution G T missense_variant S248I 743G>T CESC-US 1 62916624 62916624 single base substitution C T missense_variant P777L 2330C>T CLLE-ES 1 62905489 62905489 single base substitution C T 5_prime_UTR_variant COAD-US 1 62905615 62905615 single base substitution A C missense_variant K26T 77A>C COAD-US 1 62916312 62916312 single base substitution A C missense_variant K673T 2018A>C COAD-US 1 62916320 62916320 single base substitution G A missense_variant A676T 2026G>A COAD-US 1 62916519 62916519 single base substitution A G missense_variant E742G 2225A>G COCA-CN 1 62910347 62910347 single base substitution A G downstream_gene_variant COCA-CN 1 62910347 62910347 single base substitution A G intron_variant COCA-CN 1 62910617 62910617 single base substitution C T downstream_gene_variant COCA-CN 1 62910617 62910617 single base substitution C T missense_variant H256Y 766C>T COCA-CN 1 62914161 62914161 single base substitution G T missense_variant M482I 1446G>T COCA-CN 1 62916435 62916435 single base substitution G T missense_variant R714I 2141G>T COCA-CN 1 62920969 62920969 single base substitution T C downstream_gene_variant COCA-CN 1 62921035 62921035 single base substitution G A downstream_gene_variant EOPC-DE 1 62898879 62898879 single base substitution T A upstream_gene_variant ESAD-UK 1 62902089 62902089 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant ESAD-UK 1 62902089 62902089 single base substitution C G upstream_gene_variant ESAD-UK 1 62902135 62902140 deletion of <=200bp CTCCGT - 5_prime_UTR_variant ESAD-UK 1 62902135 62902140 deletion of <=200bp CTCCGT - splice_donor_variant ESAD-UK 1 62902135 62902140 deletion of <=200bp CTCCGT - upstream_gene_variant ESAD-UK 1 62902141 62902141 single base substitution A T 5_prime_UTR_premature_start_codon_gain_variant ESAD-UK 1 62902141 62902141 single base substitution A T intron_variant ESAD-UK 1 62902141 62902141 single base substitution A T upstream_gene_variant ESAD-UK 1 62904383 62904383 deletion of <=200bp T - intron_variant ESAD-UK 1 62906228 62906228 single base substitution C T intron_variant ESAD-UK 1 62908404 62908404 single base substitution C T downstream_gene_variant ESAD-UK 1 62908404 62908404 single base substitution C T intron_variant ESAD-UK 1 62911307 62911307 single base substitution G A downstream_gene_variant ESAD-UK 1 62911307 62911307 single base substitution G A intron_variant ESAD-UK 1 62913459 62913459 insertion of <=200bp - T downstream_gene_variant ESAD-UK 1 62913459 62913459 insertion of <=200bp - T intron_variant ESAD-UK 1 62913810 62913810 single base substitution C T downstream_gene_variant ESAD-UK 1 62913810 62913810 single base substitution C T intron_variant ESAD-UK 1 62913926 62913927 deletion of <=200bp AT - downstream_gene_variant ESAD-UK 1 62913926 62913927 deletion of <=200bp AT - intron_variant ESAD-UK 1 62915552 62915552 single base substitution C T intron_variant ESAD-UK 1 62917797 62917797 single base substitution G A downstream_gene_variant ESAD-UK 1 62920788 62920788 single base substitution G A downstream_gene_variant ESAD-UK 1 62922088 62922088 single base substitution G C downstream_gene_variant ESCA-CN 1 62910510 62910512 deletion of <=200bp AAG - downstream_gene_variant ESCA-CN 1 62910510 62910512 deletion of <=200bp AAG - inframe_deletion KE220K GACA-CN 1 62913107 62913111 deletion of <=200bp AGAAG - downstream_gene_variant GACA-CN 1 62913107 62913111 deletion of <=200bp AGAAG - frameshift_variant RR449 LICA-FR 1 62898197 62898206 deletion of <=200bp GTGGTTTTTA - upstream_gene_variant LICA-FR 1 62900093 62900093 single base substitution T C upstream_gene_variant LICA-FR 1 62904352 62904352 single base substitution A G intron_variant LICA-FR 1 62910106 62910106 single base substitution A G downstream_gene_variant LICA-FR 1 62910106 62910106 single base substitution A G intron_variant LIHC-US 1 62913095 62913095 single base substitution A G downstream_gene_variant LIHC-US 1 62913095 62913095 single base substitution A G missense_variant S445G 1333A>G LIHC-US 1 62914231 62914231 single base substitution T C missense_variant C506R 1516T>C LIHC-US 1 62916161 62916161 single base substitution A C missense_variant K623Q 1867A>C LINC-JP 1 62898364 62898364 single base substitution C T upstream_gene_variant LINC-JP 1 62901899 62901899 single base substitution G A upstream_gene_variant LINC-JP 1 62907155 62907155 single base substitution A T intron_variant LINC-JP 1 62907155 62907155 single base substitution A T splice_region_variant LINC-JP 1 62910853 62910853 single base substitution A T downstream_gene_variant LINC-JP 1 62910853 62910853 single base substitution A T missense_variant K334N 1002A>T LINC-JP 1 62920979 62920979 single base substitution A G downstream_gene_variant LINC-JP 1 62921150 62921153 deletion of <=200bp TAGT - downstream_gene_variant LINC-JP 1 62921729 62921729 single base substitution T G downstream_gene_variant LIRI-JP 1 62897422 62897422 single base substitution G A upstream_gene_variant LIRI-JP 1 62901125 62901125 single base substitution C T upstream_gene_variant LIRI-JP 1 62903359 62903359 single base substitution T C intron_variant LIRI-JP 1 62905179 62905179 insertion of <=200bp - TA intron_variant LIRI-JP 1 62905691 62905691 single base substitution A C missense_variant E51D 153A>C LIRI-JP 1 62906247 62906247 single base substitution G T intron_variant LIRI-JP 1 62906248 62906248 single base substitution C T intron_variant LIRI-JP 1 62910207 62910207 single base substitution A C downstream_gene_variant LIRI-JP 1 62910207 62910207 single base substitution A C intron_variant LIRI-JP 1 62911003 62911003 single base substitution G T downstream_gene_variant LIRI-JP 1 62911003 62911003 single base substitution G T missense_variant K384N 1152G>T LIRI-JP 1 62914277 62914294 deletion of <=200bp TTGACAAAATGCCTGAAG - inframe_deletion FDKMPEV521F LIRI-JP 1 62914290 62914290 single base substitution T G synonymous_variant P525P 1575T>G LIRI-JP 1 62916272 62916272 deletion of <=200bp A - frameshift_variant K660 LIRI-JP 1 62917734 62917734 single base substitution A C downstream_gene_variant LIRI-JP 1 62918108 62918108 single base substitution A G downstream_gene_variant LIRI-JP 1 62919607 62919607 single base substitution G A downstream_gene_variant LIRI-JP 1 62919626 62919626 single base substitution T A downstream_gene_variant LIRI-JP 1 62920447 62920447 single base substitution A G downstream_gene_variant LIRI-JP 1 62920499 62920499 deletion of <=200bp A - downstream_gene_variant LIRI-JP 1 62920657 62920657 single base substitution A C downstream_gene_variant LIRI-JP 1 62921023 62921023 single base substitution C A downstream_gene_variant LIRI-JP 1 62921394 62921394 single base substitution A C downstream_gene_variant LIRI-JP 1 62921416 62921416 single base substitution A T downstream_gene_variant LUSC-KR 1 62897430 62897430 single base substitution G A upstream_gene_variant LUSC-KR 1 62898260 62898260 single base substitution A G upstream_gene_variant LUSC-KR 1 62911981 62911981 single base substitution C A downstream_gene_variant LUSC-KR 1 62911981 62911981 single base substitution C A intron_variant LUSC-KR 1 62913454 62913454 single base substitution G A downstream_gene_variant LUSC-KR 1 62913454 62913454 single base substitution G A intron_variant LUSC-KR 1 62920452 62920452 single base substitution C A downstream_gene_variant LUSC-US 1 62916148 62916148 single base substitution G T missense_variant M618I 1854G>T MALY-DE 1 62897519 62897519 single base substitution C T upstream_gene_variant MALY-DE 1 62903099 62903099 single base substitution G A intron_variant MALY-DE 1 62906035 62906036 deletion of <=200bp TA - intron_variant MALY-DE 1 62907685 62907685 single base substitution A C downstream_gene_variant MALY-DE 1 62907685 62907685 single base substitution A C intron_variant MALY-DE 1 62913072 62913072 single base substitution G C downstream_gene_variant MALY-DE 1 62913072 62913072 single base substitution G C missense_variant R437T 1310G>C MALY-DE 1 62919476 62919476 single base substitution T G downstream_gene_variant MELA-AU 1 62897315 62897315 single base substitution C T upstream_gene_variant MELA-AU 1 62898496 62898496 single base substitution G A upstream_gene_variant MELA-AU 1 62898515 62898515 single base substitution C T upstream_gene_variant MELA-AU 1 62898584 62898584 single base substitution G A upstream_gene_variant MELA-AU 1 62898816 62898816 single base substitution C T upstream_gene_variant MELA-AU 1 62898969 62898969 single base substitution C T upstream_gene_variant MELA-AU 1 62899213 62899213 single base substitution C T upstream_gene_variant MELA-AU 1 62899229 62899229 single base substitution G A upstream_gene_variant MELA-AU 1 62899344 62899344 single base substitution C T upstream_gene_variant MELA-AU 1 62899932 62899932 single base substitution G A upstream_gene_variant MELA-AU 1 62900030 62900030 single base substitution T C upstream_gene_variant MELA-AU 1 62900334 62900334 single base substitution C T upstream_gene_variant MELA-AU 1 62900748 62900748 single base substitution C T upstream_gene_variant MELA-AU 1 62900769 62900769 single base substitution G A upstream_gene_variant MELA-AU 1 62901597 62901597 single base substitution G A upstream_gene_variant MELA-AU 1 62901767 62901767 single base substitution G A upstream_gene_variant MELA-AU 1 62902110 62902111 multiple base substitution (>=2bp and <=200bp) GG AA 5_prime_UTR_variant MELA-AU 1 62902110 62902111 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 1 62902111 62902111 single base substitution G A 5_prime_UTR_variant MELA-AU 1 62902111 62902111 single base substitution G A upstream_gene_variant MELA-AU 1 62903394 62903394 single base substitution C T intron_variant MELA-AU 1 62903409 62903409 single base substitution G A intron_variant MELA-AU 1 62903586 62903586 single base substitution C T intron_variant MELA-AU 1 62904275 62904275 single base substitution T A intron_variant MELA-AU 1 62904366 62904366 single base substitution T C intron_variant MELA-AU 1 62904407 62904407 single base substitution T A intron_variant MELA-AU 1 62905457 62905457 single base substitution C T intron_variant MELA-AU 1 62907209 62907209 single base substitution G A missense_variant R74K 221G>A MELA-AU 1 62907246 62907246 single base substitution C T synonymous_variant L86L 258C>T MELA-AU 1 62908121 62908121 single base substitution T C downstream_gene_variant MELA-AU 1 62908121 62908121 single base substitution T C intron_variant MELA-AU 1 62909256 62909256 single base substitution G C downstream_gene_variant MELA-AU 1 62909256 62909256 single base substitution G C intron_variant MELA-AU 1 62910637 62910637 single base substitution G A downstream_gene_variant MELA-AU 1 62910637 62910637 single base substitution G A synonymous_variant E262E 786G>A MELA-AU 1 62911164 62911164 single base substitution C T downstream_gene_variant MELA-AU 1 62911164 62911164 single base substitution C T intron_variant MELA-AU 1 62911305 62911305 single base substitution G A downstream_gene_variant MELA-AU 1 62911305 62911305 single base substitution G A intron_variant MELA-AU 1 62911307 62911307 single base substitution G A downstream_gene_variant MELA-AU 1 62911307 62911307 single base substitution G A intron_variant MELA-AU 1 62912464 62912464 single base substitution A G downstream_gene_variant MELA-AU 1 62912464 62912464 single base substitution A G intron_variant MELA-AU 1 62913217 62913217 single base substitution G A downstream_gene_variant MELA-AU 1 62913217 62913217 single base substitution G A intron_variant MELA-AU 1 62915887 62915887 single base substitution A G intron_variant MELA-AU 1 62916363 62916363 single base substitution T C missense_variant V690A 2069T>C MELA-AU 1 62916577 62916578 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant KD761KN MELA-AU 1 62916599 62916599 single base substitution C T missense_variant P769S 2305C>T MELA-AU 1 62917181 62917181 single base substitution G A 3_prime_UTR_variant MELA-AU 1 62918489 62918489 single base substitution G A downstream_gene_variant MELA-AU 1 62920342 62920342 single base substitution A G downstream_gene_variant MELA-AU 1 62920788 62920788 single base substitution G A downstream_gene_variant MELA-AU 1 62921501 62921501 single base substitution T A downstream_gene_variant MELA-AU 1 62922231 62922231 deletion of <=200bp A - downstream_gene_variant ORCA-IN 1 62907970 62907970 single base substitution G T downstream_gene_variant ORCA-IN 1 62907970 62907970 single base substitution G T missense_variant K132N 396G>T ORCA-IN 1 62908962 62908962 single base substitution C G downstream_gene_variant ORCA-IN 1 62908962 62908962 single base substitution C G missense_variant Q177E 529C>G ORCA-IN 1 62916564 62916564 single base substitution T G missense_variant V757G 2270T>G OV-AU 1 62898003 62898003 single base substitution T A upstream_gene_variant OV-AU 1 62917126 62917126 single base substitution C G 3_prime_UTR_variant OV-AU 1 62920234 62920234 single base substitution T C downstream_gene_variant OV-AU 1 62922265 62922265 single base substitution G C downstream_gene_variant OV-US 1 62916019 62916019 single base substitution C G missense_variant S575R 1725C>G PACA-AU 1 62898632 62898632 single base substitution A T upstream_gene_variant PACA-AU 1 62910450 62910450 single base substitution C T downstream_gene_variant PACA-AU 1 62910450 62910450 single base substitution C T missense_variant A200V 599C>T PACA-AU 1 62912297 62912300 deletion of <=200bp GTAA - downstream_gene_variant PACA-AU 1 62912297 62912300 deletion of <=200bp GTAA - intron_variant PACA-AU 1 62921875 62921875 single base substitution G C downstream_gene_variant PACA-CA 1 62904593 62904593 single base substitution T C intron_variant PACA-CA 1 62911574 62911574 single base substitution C T downstream_gene_variant PACA-CA 1 62911574 62911574 single base substitution C T intron_variant PACA-CA 1 62916272 62916272 deletion of <=200bp A - frameshift_variant K660 PACA-CA 1 62919848 62919848 single base substitution G T downstream_gene_variant PACA-CA 1 62921386 62921386 single base substitution A C downstream_gene_variant PBCA-DE 1 62909668 62909668 single base substitution A G downstream_gene_variant PBCA-DE 1 62909668 62909668 single base substitution A G intron_variant PBCA-DE 1 62911300 62911300 insertion of <=200bp - TG downstream_gene_variant PBCA-DE 1 62911300 62911300 insertion of <=200bp - TG intron_variant PBCA-DE 1 62919624 62919625 deletion of <=200bp TG - downstream_gene_variant READ-US 1 62905628 62905628 single base substitution A C missense_variant K30N 90A>C READ-US 1 62915918 62915918 single base substitution T G missense_variant F542V 1624T>G RECA-EU 1 62905829 62905829 single base substitution T C intron_variant SKCA-BR 1 62897138 62897138 single base substitution T C upstream_gene_variant SKCA-BR 1 62903314 62903314 single base substitution T G intron_variant SKCA-BR 1 62908127 62908127 single base substitution G A downstream_gene_variant SKCA-BR 1 62908127 62908127 single base substitution G A intron_variant SKCA-BR 1 62908511 62908511 insertion of <=200bp - TA downstream_gene_variant SKCA-BR 1 62908511 62908511 insertion of <=200bp - TA intron_variant SKCA-BR 1 62909952 62909952 single base substitution G A downstream_gene_variant SKCA-BR 1 62909952 62909952 single base substitution G A intron_variant SKCA-BR 1 62910776 62910776 single base substitution G A downstream_gene_variant SKCA-BR 1 62910776 62910776 single base substitution G A missense_variant D309N 925G>A SKCA-BR 1 62911123 62911123 single base substitution G C downstream_gene_variant SKCA-BR 1 62911123 62911123 single base substitution G C intron_variant SKCA-BR 1 62913134 62913134 single base substitution G A downstream_gene_variant SKCA-BR 1 62913134 62913134 single base substitution G A missense_variant V458M 1372G>A SKCA-BR 1 62913561 62913561 single base substitution C T downstream_gene_variant SKCA-BR 1 62913561 62913561 single base substitution C T intron_variant SKCA-BR 1 62916299 62916299 single base substitution C T missense_variant L669F 2005C>T SKCA-BR 1 62919597 62919597 insertion of <=200bp - TTA downstream_gene_variant SKCA-BR 1 62921121 62921121 single base substitution G A downstream_gene_variant SKCM-US 1 62910551 62910551 single base substitution G A downstream_gene_variant SKCM-US 1 62910551 62910551 single base substitution G A missense_variant E234K 700G>A SKCM-US 1 62910742 62910742 single base substitution G C downstream_gene_variant SKCM-US 1 62910742 62910742 single base substitution G C missense_variant Q297H 891G>C SKCM-US 1 62911009 62911009 single base substitution A G downstream_gene_variant SKCM-US 1 62911009 62911009 single base substitution A G synonymous_variant E386E 1158A>G SKCM-US 1 62914219 62914219 single base substitution G A missense_variant D502N 1504G>A SKCM-US 1 62916296 62916298 deletion of <=200bp CTT - inframe_deletion L668 STAD-US 1 62910637 62910637 single base substitution G T downstream_gene_variant STAD-US 1 62910637 62910637 single base substitution G T missense_variant E262D 786G>T STAD-US 1 62910879 62910879 single base substitution A C downstream_gene_variant STAD-US 1 62910879 62910879 single base substitution A C missense_variant K343T 1028A>C STAD-US 1 62913077 62913077 single base substitution C T downstream_gene_variant STAD-US 1 62913077 62913077 single base substitution C T missense_variant R439C 1315C>T STAD-US 1 62916034 62916034 single base substitution G A synonymous_variant A580A 1740G>A THCA-SA 1 62902874 62902874 single base substitution A G 5_prime_UTR_variant THCA-SA 1 62902874 62902874 single base substitution A G intron_variant UCEC-US 1 62910447 62910447 single base substitution A C downstream_gene_variant UCEC-US 1 62910447 62910447 single base substitution A C missense_variant D199A 596A>C UCEC-US 1 62910554 62910554 single base substitution G T downstream_gene_variant UCEC-US 1 62910554 62910554 single base substitution G T stop_gained E235* 703G>T UCEC-US 1 62914139 62914139 single base substitution C A missense_variant S475Y 1424C>A UCEC-US 1 62916114 62916114 single base substitution A G missense_variant E607G 1820A>G UCEC-US 1 62916468 62916468 single base substitution A C missense_variant N725T 2174A>C

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand P04-1243 COSM248232 c.2334_2335insT p.L779fs*5 Insertion - Frameshift 1:62450957-62450958 + TCGA-BT-A42C-01 COSM4390132 c.2232G>C p.E744D Substitution - Missense 1:62450855-62450855 + OSCC-GB_00120111 COSM3711916 c.2270T>G p.V757G Substitution - Missense 1:62450893-62450893 + T3090 COSM1343787 c.1978delA p.N662fs*2 Deletion - Frameshift 1:62450601-62450601 + LUAD-NYU627 COSM375355 c.805G>T p.G269W Substitution - Missense 1:62444985-62444985 + TCGA-B8-5162-01 COSM1492113 c.1177G>C p.G393R Substitution - Missense 1:62445357-62445357 + DN1401F COSM5961141 c.367C>A p.L123I Substitution - Missense 1:62442270-62442270 + EGC15 COSM5053627 c.121G>T p.D41Y Substitution - Missense 1:62439988-62439988 + 587338 COSM1231948 c.1549C>T p.R517* Substitution - Nonsense 1:62448593-62448593 + PD9752a COSM5786047 c.236C>T p.P79L Substitution - Missense 1:62441553-62441553 + TCGA-A2-A04U-01 COSM426551 c.1516T>A p.C506S Substitution - Missense 1:62448560-62448560 + T2940 COSM4739627 c.654delA p.E221fs*3 Deletion - Frameshift 1:62444834-62444834 + CSCC-55-T COSM4467923 c.1515C>T p.F505F Substitution - coding silent 1:62448559-62448559 + TCGA-EI-6507-01 COSM3420733 c.1624T>G p.F542V Substitution - Missense 1:62450247-62450247 + SA218 COSM212350 c.1075G>A p.G359R Substitution - Missense 1:62445255-62445255 + TCGA-BR-8680-01 COSM4009236 c.786G>T p.E262D Substitution - Missense 1:62444966-62444966 + 24T COSM3711915 c.529C>G p.Q177E Substitution - Missense 1:62443291-62443291 + TCGA-AP-A0LM-01 COSM911358 c.1424C>A p.S475Y Substitution - Missense 1:62448468-62448468 + TCGA-A2-A25E-01 COSM1474128 c.99T>G p.T33T Substitution - coding silent 1:62439966-62439966 + 2128 COSM1645110 c.2006T>C p.L669P Substitution - Missense 1:62450629-62450629 + pfg008T COSM1639932 c.1374G>A p.V458V Substitution - coding silent 1:62447465-62447465 + HCT8 COSM2238308 c.2130T>C p.H710H Substitution - coding silent 1:62450753-62450753 + TCGA-AO-A128-01 COSM4739627 c.654delA p.E221fs*3 Deletion - Frameshift 1:62444834-62444834 + TCGA-D1-A103-01 COSM911360 c.2174A>C p.N725T Substitution - Missense 1:62450797-62450797 + T2944 COSM1343787 c.1978delA p.N662fs*2 Deletion - Frameshift 1:62450601-62450601 + TCGA-AA-3510-01 COSM1343789 c.2026G>A p.A676T Substitution - Missense 1:62450649-62450649 + ESCC_BICR_058T COSM2238278 c.659_661delAAG p.E222delE Deletion - In frame 1:62444839-62444841 + LUAD-S01306 COSM392379 c.774_775delAG p.D259fs*2 Deletion - Frameshift 1:62444954-62444955 + 331 COSM1742102 c.350C>T p.S117L Substitution - Missense 1:62442253-62442253 + T13 COSM5342744 c.1822C>G p.L608V Substitution - Missense 1:62450445-62450445 + TCGA-AC-A3W6-01 COSM3805700 c.127C>G p.Q43E Substitution - Missense 1:62439994-62439994 + BD72T COSM1231948 c.1549C>T p.R517* Substitution - Nonsense 1:62448593-62448593 + 9087_T COSM5038730 c.632delT p.Q212fs*7 Deletion - Frameshift 1:62444812-62444812 + STC252 COSM5053628 c.1541A>G p.E514G Substitution - Missense 1:62448585-62448585 + 587232 COSM1231950 c.1588A>G p.I530V Substitution - Missense 1:62448632-62448632 + T3724 COSM4739626 c.414T>A p.D138E Substitution - Missense 1:62443176-62443176 + LS180 COSM2238292 c.1236A>C p.K412N Substitution - Missense 1:62445416-62445416 + sysucc-1163T COSM2238283 c.766C>T p.H256Y Substitution - Missense 1:62444946-62444946 + MedB-1 COSM5622116 c.271T>C p.Y91H Substitution - Missense 1:62441588-62441588 + GC9_T COSM150843 c.1345_1349delAGAAG p.E451fs*12 Deletion - Frameshift 1:62447436-62447440 + TCGA-B5-A11E-01 COSM911357 c.703G>T p.E235* Substitution - Nonsense 1:62444883-62444883 + CSCC-27-T COSM4513914 c.955C>T p.P319S Substitution - Missense 1:62445135-62445135 + TCGA-C5-A7UC-01 COSM4828129 c.743G>T p.S248I Substitution - Missense 1:62444923-62444923 + TCGA-FV-A495-01 COSM4914325 c.1333A>G p.S445G Substitution - Missense 1:62447424-62447424 + TCGA-EB-A44O-01 COSM3491618 c.891G>C p.Q297H Substitution - Missense 1:62445071-62445071 + TCGA-AP-A059-01 COSM911359 c.1820A>G p.E607G Substitution - Missense 1:62450443-62450443 + OSCC-GB_01060111 COSM4882641 c.396G>T p.K132N Substitution - Missense 1:62442299-62442299 + TCGA-D5-6927-01 COSM1343790 c.2225A>G p.E742G Substitution - Missense 1:62450848-62450848 + TCGA-F5-6814-01 COSM3419371 c.90A>C p.K30N Substitution - Missense 1:62439957-62439957 + TCGA-ER-A193-06 COSM3491617 c.700G>A p.E234K Substitution - Missense 1:62444880-62444880 + ESCC_78 COSM5635424 c.33A>T p.G11G Substitution - coding silent 1:62439900-62439900 + RK061_C01 COSM1627142 c.1152G>T p.K384N Substitution - Missense 1:62445332-62445332 + RKO COSM2238291 c.1216G>A p.V406I Substitution - Missense 1:62445396-62445396 + OSCC-GB_00240111 COSM3711915 c.529C>G p.Q177E Substitution - Missense 1:62443291-62443291 + SB_06 COSM5752907 c.1985_1986insA p.N662fs*18 Insertion - Frameshift 1:62450608-62450609 + LIM2405 COSM4642003 c.447A>G p.L149L Substitution - coding silent 1:62443209-62443209 + HCC99T COSM3705964 c.1002A>T p.K334N Substitution - Missense 1:62445182-62445182 + 587224 COSM242192 c.716C>T p.P239L Substitution - Missense 1:62444896-62444896 + LS174T COSM2238292 c.1236A>C p.K412N Substitution - Missense 1:62445416-62445416 + 035T COSM1728623 c.894A>T p.R298S Substitution - Missense 1:62445074-62445074 + pfg019T COSM1343787 c.1978delA p.N662fs*2 Deletion - Frameshift 1:62450601-62450601 + SNU-C2B COSM2238281 c.749A>G p.E250G Substitution - Missense 1:62444929-62444929 + TCGA-66-2792-01 COSM681546 c.1854G>T p.M618I Substitution - Missense 1:62450477-62450477 + YUMOBER COSM5381352 c.1348_1349delAG p.E451fs*13 Deletion - Frameshift 1:62447439-62447440 + TCGA-BH-A0C0-01 COSM426552 c.1881G>T p.L627F Substitution - Missense 1:62450504-62450504 + HCT-116 COSM1667591 c.538C>T p.R180* Substitution - Nonsense 1:62443300-62443300 + HCT116 COSM1667591 c.538C>T p.R180* Substitution - Nonsense 1:62443300-62443300 + LS513 COSM2238285 c.994C>G p.Q332E Substitution - Missense 1:62445174-62445174 + TCGA-AN-A0AL-01 COSM426550 c.670A>G p.K224E Substitution - Missense 1:62444850-62444850 + HCC127 COSM3705963 c.171-4A>T p.? Unknown 1:62441484-62441484 + 66 COSM1343787 c.1978delA p.N662fs*2 Deletion - Frameshift 1:62450601-62450601 + Pat_14_B COSM1343787 c.1978delA p.N662fs*2 Deletion - Frameshift 1:62450601-62450601 + TCGA-D7-A4YY-01 COSM4009238 c.1315C>T p.R439C Substitution - Missense 1:62447406-62447406 + WA7 COSM242192 c.716C>T p.P239L Substitution - Missense 1:62444896-62444896 + TCGA-EE-A2MI-06 COSM3491619 c.1158A>G p.E386E Substitution - coding silent 1:62445338-62445338 + TCGA-AG-A002-01 COSM264592 c.1149G>A p.G383G Substitution - coding silent 1:62445329-62445329 + PT21_2 COSM5901101 c.2005C>T p.L669F Substitution - Missense 1:62450628-62450628 + LC_C21 COSM1185473 c.509A>G p.Y170C Substitution - Missense 1:62443271-62443271 + 587376 COSM1231949 c.656A>C p.K219T Substitution - Missense 1:62444836-62444836 + B78 COSM1748546 c.117C>T p.F39F Substitution - coding silent 1:62439984-62439984 + HCC127T COSM3705963 c.171-4A>T p.? Unknown 1:62441484-62441484 + sysucc-311T COSM5479087 c.1446G>T p.M482I Substitution - Missense 1:62448490-62448490 + ESCC_134 COSM5642650 c.134A>G p.N45S Substitution - Missense 1:62440001-62440001 + TCGA-JX-A3PZ-01 COSM4823876 c.361G>A p.E121K Substitution - Missense 1:62442264-62442264 + OV207 COSM252910 c.587T>C p.L196P Substitution - Missense 1:62444767-62444767 + T3724 COSM4739628 c.1328G>A p.C443Y Substitution - Missense 1:62447419-62447419 + B78-Tumor COSM1748546 c.117C>T p.F39F Substitution - coding silent 1:62439984-62439984 + TCGA-AK-3458-01 COSM464843 c.1278G>T p.V426V Substitution - coding silent 1:62447369-62447369 + ESO-859 COSM1240616 c.2206G>A p.V736I Substitution - Missense 1:62450829-62450829 + T3174 COSM1343787 c.1978delA p.N662fs*2 Deletion - Frameshift 1:62450601-62450601 + 12T COSM3711916 c.2270T>G p.V757G Substitution - Missense 1:62450893-62450893 + TCGA-CA-6717-01 COSM1343788 c.2018A>C p.K673T Substitution - Missense 1:62450641-62450641 + T3091 COSM4739629 c.1434delA p.T480fs*3 Deletion - Frameshift 1:62448478-62448478 + 4989_CLM COSM5754484 c.2003T>C p.L668P Substitution - Missense 1:62450626-62450626 + TCGA-BR-8680-01 COSM4009237 c.1028A>C p.K343T Substitution - Missense 1:62445208-62445208 + SW48 COSM1343787 c.1978delA p.N662fs*2 Deletion - Frameshift 1:62450601-62450601 + TCGA-13-0723-01 COSM76963 c.1725C>G p.S575R Substitution - Missense 1:62450348-62450348 + S0100 COSM5881767 c.517G>C p.E173Q Substitution - Missense 1:62443279-62443279 + TCGA-DD-A4NV-01 COSM4916478 c.1516T>C p.C506R Substitution - Missense 1:62448560-62448560 + RMS10_ COSM4985993 c.2218T>G p.L740V Substitution - Missense 1:62450841-62450841 + TCGA-E9-A1RE-01 COSM1474129 c.646C>T p.Q216* Substitution - Nonsense 1:62444826-62444826 + TCGA-EI-6507-01 COSM4739627 c.654delA p.E221fs*3 Deletion - Frameshift 1:62444834-62444834 + ESCC_152 COSM5645303 c.1591C>A p.H531N Substitution - Missense 1:62448635-62448635 + RK280_C01 COSM4944299 c.1575T>G p.P525P Substitution - coding silent 1:62448619-62448619 + S02291 COSM5686927 c.969T>A p.S323S Substitution - coding silent 1:62445149-62445149 + TCGA-D3-A2JH-06 COSM3491620 c.1504G>A p.D502N Substitution - Missense 1:62448548-62448548 + 8016470 COSM3386273 c.599C>T p.A200V Substitution - Missense 1:62444779-62444779 + TCGA-AP-A051-01 COSM911356 c.596A>C p.D199A Substitution - Missense 1:62444776-62444776 + HCC99 COSM3705964 c.1002A>T p.K334N Substitution - Missense 1:62445182-62445182 + DLD1 COSM4623299 c.513T>C p.T171T Substitution - coding silent 1:62443275-62443275 + ESCC_100 COSM5637813 c.15A>G p.I5M Substitution - Missense 1:62439882-62439882 + TCGA-BR-8081-01 COSM2238301 c.1740G>A p.A580A Substitution - coding silent 1:62450363-62450363 + LUAD-S01304 COSM385388 c.2260G>C p.E754Q Substitution - Missense 1:62450883-62450883 + TCGA-CA-6718-01 COSM1343785 c.77A>C p.K26T Substitution - Missense 1:62439944-62439944 + TCGA-DD-A73F-01 COSM4935370 c.1867A>C p.K623Q Substitution - Missense 1:62450490-62450490 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.35086 1p31.3 603478 2486271|CGAP|BC050525|A/G|non-coding||195|Validated; 1518948|dbSNP|BC050525|A/G|non-coding||195|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A - Frameshift p.N662Mfs*2 c.1985delA 1 62916272 STAD A G Missense p.K224E c.670A>G 1 62910521 BRCA A G Synonymous p.E386E c.1158A>G 1 62911009 CM C G Missense p.F39L c.117C>G 1 62905655 HNSC C G Missense p.L425V c.1273C>G 1 62913035 LUAD C G Missense p.Q212E c.634C>G 1 62910485 LUAD C G Missense p.S575R c.1725C>G 1 62916019 OV C G Nonsense p.S292* c.875C>G 1 62910726 LUAD C T Missense p.P773S c.2317C>T 1 62916611 CM C T Nonsense p.Q216* c.646C>T 1 62910497 BRCA G A Missense p.D502N c.1504G>A 1 62914219 CM G A Missense p.D543N c.1627G>A 1 62915921 LUAD G A Missense p.E234K c.700G>A 1 62910551 CM G A Missense p.G359R c.1075G>A 1 62910926 BRCA G A Synonymous p.L145L c.435G>A 1 62908868 HNSC G A Synonymous p.V458V c.1374G>A 1 62913136 STAD G T Missense p.L627F c.1881G>T 1 62916175 BRCA G T Missense p.M618I c.1854G>T 1 62916148 LUSC T A Missense p.C506S c.1516T>A 1 62914231 BRCA T A Missense p.S331T c.991T>A 1 62910842 HNSC T C SpliceDonorSNV . c.557+2T>C 1 62908992 LUAD T C Synonymous p.Y91Y c.273T>C 1 62907261 HNSC T G Synonymous p.T33T c.99T>G 1 62905637 BRCA