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 7 100276080 100276080 + Silent SNP C C T TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 g.chr7:100276080C>T c.759C>T c.(757-759)ttC>ttT p.F253F BRCA 7 100276323 100276323 + Missense_Mutation SNP C C T TCGA-C8-A26W-01A-11D-A16D-09 TCGA-C8-A26W-10A-01D-A16D-09 g.chr7:100276323C>T c.922C>T c.(922-924)Ctc>Ttc p.L308F CESC 7 100276365 100276365 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 g.chr7:100276365G>A c.964G>A c.(964-966)Gac>Aac p.D322N COAD 7 100275154 100275154 + Missense_Mutation SNP A A G TCGA-A6-6649-01A-11D-1771-10 TCGA-A6-6649-10A-01D-1771-10 g.chr7:100275154A>G c.301A>G c.(301-303)Atg>Gtg p.M101V COAD 7 100276356 100276356 + Missense_Mutation SNP G G A TCGA-DM-A1DB-01A-11D-A152-10 TCGA-DM-A1DB-10A-01D-A152-10 g.chr7:100276356G>A c.955G>A c.(955-957)Ggg>Agg p.G319R COADREAD 7 100275154 100275154 + Missense_Mutation SNP A A G TCGA-A6-6649-01A-11D-1771-10 TCGA-A6-6649-10A-01D-1771-10 g.chr7:100275154A>G c.301A>G c.(301-303)Atg>Gtg p.M101V COADREAD 7 100276356 100276356 + Missense_Mutation SNP G G A TCGA-DM-A1DB-01A-11D-A152-10 TCGA-DM-A1DB-10A-01D-A152-10 g.chr7:100276356G>A c.955G>A c.(955-957)Ggg>Agg p.G319R DLBC 7 100273936 100273936 + Silent SNP C C T TCGA-GR-7351-01A-11D-2210-10 TCGA-GR-7351-10A-01D-2210-10 g.chr7:100273936C>T c.48C>T c.(46-48)aaC>aaT p.N16N DLBC 7 100276355 100276355 + Silent SNP C C T TCGA-G8-6906-01A-11D-2210-10 TCGA-G8-6906-14A-01D-2210-10 g.chr7:100276355C>T c.954C>T c.(952-954)ctC>ctT p.L318L ESCA 7 100275870 100275870 + Missense_Mutation SNP C C T TCGA-R6-A8WG-01A-11D-A37C-09 TCGA-R6-A8WG-10A-01D-A37F-09 g.chr7:100275870C>T c.647C>T c.(646-648)tCc>tTc p.S216F ESCA 7 100276334 100276334 + Silent SNP C C T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 g.chr7:100276334C>T c.933C>T c.(931-933)caC>caT p.H311H GBMLGG 7 100275813 100275813 + Missense_Mutation SNP G G A TCGA-WY-A859-01A-12D-A36O-08 TCGA-WY-A859-10A-01D-A367-08 g.chr7:100275813G>A c.590G>A c.(589-591)cGc>cAc p.R197H GBMLGG 7 100276231 100276231 + Missense_Mutation SNP C C A TCGA-DB-A4XE-01A-11D-A27K-08 TCGA-DB-A4XE-10A-01D-A27N-08 g.chr7:100276231C>A c.910C>A c.(910-912)Cgt>Agt p.R304S GBMLGG 7 100276322 100276322 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr7:100276322C>T c.921C>T c.(919-921)gtC>gtT p.V307V HNSC 7 100275401 100275401 + Missense_Mutation SNP G G A TCGA-BB-4228-01A-01D-1434-08 TCGA-BB-4228-10A-01D-1434-08 g.chr7:100275401G>A c.457G>A c.(457-459)Gat>Aat p.D153N HNSC 7 100276124 100276124 + Missense_Mutation SNP A A T TCGA-BA-A6DA-01A-31D-A31L-08 TCGA-BA-A6DA-10A-01D-A31J-08 g.chr7:100276124A>T c.803A>T c.(802-804)aAc>aTc p.N268I HNSC 7 100276155 100276155 + Silent SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 g.chr7:100276155C>T c.834C>T c.(832-834)ttC>ttT p.F278F HNSC 7 100276221 100276224 + Frame_Shift_Del DEL GAAG GAAG - TCGA-BA-6870-01A-11D-1870-08 TCGA-BA-6870-10A-01D-1870-08 g.chr7:100276221_100276224delGAAG c.900_903delGAAG c.(898-903)atgaagfs p.MK300fs HNSC 7 100276365 100276365 + Missense_Mutation SNP G G A TCGA-CR-7388-01A-11D-2012-08 TCGA-CR-7388-10A-01D-2013-08 g.chr7:100276365G>A c.964G>A c.(964-966)Gac>Aac p.D322N KICH 7 100276355 100276355 + Silent SNP C C T TCGA-KL-8339-01A-11D-2310-10 TCGA-KL-8339-11A-01D-2310-10 g.chr7:100276355C>T c.954C>T c.(952-954)ctC>ctT p.L318L KIPAN 7 100276355 100276355 + Silent SNP C C T TCGA-KL-8339-01A-11D-2310-10 TCGA-KL-8339-11A-01D-2310-10 g.chr7:100276355C>T c.954C>T c.(952-954)ctC>ctT p.L318L LGG 7 100275813 100275813 + Missense_Mutation SNP G G A TCGA-WY-A859-01A-12D-A36O-08 TCGA-WY-A859-10A-01D-A367-08 g.chr7:100275813G>A c.590G>A c.(589-591)cGc>cAc p.R197H LGG 7 100276231 100276231 + Missense_Mutation SNP C C A TCGA-DB-A4XE-01A-11D-A27K-08 TCGA-DB-A4XE-10A-01D-A27N-08 g.chr7:100276231C>A c.910C>A c.(910-912)Cgt>Agt p.R304S LGG 7 100276322 100276322 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr7:100276322C>T c.921C>T c.(919-921)gtC>gtT p.V307V LIHC 7 100274386 100274386 + Missense_Mutation SNP C C A TCGA-DD-A1EE-01A-11D-A12Z-10 TCGA-DD-A1EE-10A-01D-A12Z-10 g.chr7:100274386C>A c.167C>A c.(166-168)gCa>gAa p.A56E LIHC 7 100275413 100275413 + Missense_Mutation SNP A A G TCGA-CC-A3MC-01A-11D-A22F-10 TCGA-CC-A3MC-10A-01D-A22F-10 g.chr7:100275413A>G c.469A>G c.(469-471)Atc>Gtc p.I157V LIHC 7 100275432 100275432 + Missense_Mutation SNP A A G TCGA-ES-A2HS-01A-11D-A183-10 TCGA-ES-A2HS-11A-11D-A183-10 g.chr7:100275432A>G c.488A>G c.(487-489)gAt>gGt p.D163G LUAD 7 100275138 100275138 + Silent SNP G G A TCGA-50-5930-01A-11D-1753-08 TCGA-50-5930-11A-01D-1753-08 g.chr7:100275138G>A c.285G>A c.(283-285)ctG>ctA p.L95L LUAD 7 100275742 100275742 + Silent SNP A A T TCGA-55-6712-01A-11D-1855-08 TCGA-55-6712-10A-01D-1855-08 g.chr7:100275742A>T c.519A>T c.(517-519)acA>acT p.T173T LUSC 7 100275765 100275765 + Missense_Mutation SNP C C T TCGA-22-5491-01A-01D-1632-08 TCGA-22-5491-11A-01D-1632-08 g.chr7:100275765C>T c.542C>T c.(541-543)gCt>gTt p.A181V OV 7 100275154 100275154 + Missense_Mutation SNP A A G TCGA-10-0930-01A-02W-0421-09 TCGA-10-0930-11A-01W-0977-09 g.chr7:100275154A>G c.301A>G c.(301-303)Atg>Gtg p.M101V OV 7 100275155 100275155 + Missense_Mutation SNP T T C TCGA-13-0912-01A-01W-0421-09 TCGA-13-0912-10A-01W-0421-09 g.chr7:100275155T>C c.302T>C c.(301-303)aTg>aCg p.M101T PAAD 7 100276124 100276124 + Missense_Mutation SNP A A T TCGA-YY-A8LH-01A-11D-A36O-08 TCGA-YY-A8LH-10A-01D-A367-08 g.chr7:100276124A>T c.803A>T c.(802-804)aAc>aTc p.N268I PRAD 7 100274182 100274182 + Missense_Mutation SNP T T C TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr7:100274182T>C c.82T>C c.(82-84)Tca>Cca p.S28P PRAD 7 100275276 100275276 + Silent SNP C C T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 g.chr7:100275276C>T c.423C>T c.(421-423)ggC>ggT p.G141G SARC 7 100276034 100276034 + Missense_Mutation SNP G G A TCGA-3B-A9HT-01A-11D-A38Z-09 TCGA-3B-A9HT-10A-01D-A38Z-09 g.chr7:100276034G>A c.713G>A c.(712-714)gGc>gAc p.G238D SKCM 7 100275174 100275174 + Silent SNP C C T TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 g.chr7:100275174C>T c.321C>T c.(319-321)ccC>ccT p.P107P SKCM 7 100275731 100275731 + Missense_Mutation SNP G G A TCGA-FS-A4FD-06A-11D-A25O-08 TCGA-FS-A4FD-10B-01D-A25O-08 g.chr7:100275731G>A c.508G>A c.(508-510)Gac>Aac p.D170N

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 7 100274183 100274183 single base substitution C T 5_prime_UTR_variant BLCA-CN 7 100274183 100274183 single base substitution C T exon_variant BLCA-CN 7 100274183 100274183 single base substitution C T intron_variant BLCA-CN 7 100274183 100274183 single base substitution C T missense_variant S28L 83C>T BLCA-CN 7 100274183 100274183 single base substitution C T upstream_gene_variant BLCA-US 7 100280314 100280314 insertion of <=200bp - C downstream_gene_variant BLCA-US 7 100280767 100280767 single base substitution G C downstream_gene_variant BLCA-US 7 100281007 100281007 single base substitution G C downstream_gene_variant BRCA-EU 7 100266352 100266352 single base substitution C T upstream_gene_variant BRCA-EU 7 100266525 100266525 single base substitution C T upstream_gene_variant BRCA-EU 7 100267082 100267082 single base substitution G A upstream_gene_variant BRCA-EU 7 100267149 100267149 deletion of <=200bp A - upstream_gene_variant BRCA-EU 7 100268986 100268986 single base substitution C G upstream_gene_variant BRCA-EU 7 100269077 100269077 deletion of <=200bp C - upstream_gene_variant BRCA-EU 7 100269923 100269923 single base substitution G C upstream_gene_variant BRCA-EU 7 100270327 100270327 single base substitution T A upstream_gene_variant BRCA-EU 7 100272867 100272867 single base substitution C G intron_variant BRCA-EU 7 100272867 100272867 single base substitution C G upstream_gene_variant BRCA-EU 7 100272922 100272922 single base substitution C T 5_prime_UTR_variant BRCA-EU 7 100272922 100272922 single base substitution C T intron_variant BRCA-EU 7 100272922 100272922 single base substitution C T upstream_gene_variant BRCA-EU 7 100273876 100273876 single base substitution C G 5_prime_UTR_variant BRCA-EU 7 100273876 100273876 single base substitution C G exon_variant BRCA-EU 7 100273876 100273876 single base substitution C G intron_variant BRCA-EU 7 100273876 100273876 single base substitution C G upstream_gene_variant BRCA-EU 7 100274268 100274268 single base substitution A T intron_variant BRCA-EU 7 100274268 100274268 single base substitution A T upstream_gene_variant BRCA-EU 7 100274561 100274561 single base substitution G C exon_variant BRCA-EU 7 100274561 100274561 single base substitution G C intron_variant BRCA-EU 7 100274561 100274561 single base substitution G C upstream_gene_variant BRCA-EU 7 100274901 100274901 single base substitution T C exon_variant BRCA-EU 7 100274901 100274901 single base substitution T C intron_variant BRCA-EU 7 100274901 100274901 single base substitution T C upstream_gene_variant BRCA-EU 7 100275686 100275686 single base substitution C G downstream_gene_variant BRCA-EU 7 100275686 100275686 single base substitution C G intron_variant BRCA-EU 7 100276013 100276013 single base substitution T C downstream_gene_variant BRCA-EU 7 100276013 100276013 single base substitution T C intron_variant BRCA-EU 7 100276013 100276013 single base substitution T C splice_region_variant BRCA-EU 7 100277008 100277008 single base substitution C G downstream_gene_variant BRCA-EU 7 100278908 100278908 single base substitution C G downstream_gene_variant BRCA-EU 7 100281206 100281206 single base substitution A C downstream_gene_variant BRCA-EU 7 100281599 100281599 deletion of <=200bp C - downstream_gene_variant BRCA-FR 7 100270327 100270327 single base substitution T A upstream_gene_variant BRCA-FR 7 100272867 100272867 single base substitution C G intron_variant BRCA-FR 7 100272867 100272867 single base substitution C G upstream_gene_variant BRCA-FR 7 100273876 100273876 single base substitution C G 5_prime_UTR_variant BRCA-FR 7 100273876 100273876 single base substitution C G exon_variant BRCA-FR 7 100273876 100273876 single base substitution C G intron_variant BRCA-FR 7 100273876 100273876 single base substitution C G upstream_gene_variant BRCA-US 7 100276323 100276323 single base substitution C T downstream_gene_variant BRCA-US 7 100276323 100276323 single base substitution C T exon_variant BRCA-US 7 100276323 100276323 single base substitution C T missense_variant L208F 622C>T BRCA-US 7 100276323 100276323 single base substitution C T missense_variant L264F 790C>T BRCA-US 7 100276323 100276323 single base substitution C T missense_variant L308F 922C>T BRCA-US 7 100280053 100280053 single base substitution C T downstream_gene_variant BRCA-US 7 100281706 100281706 single base substitution G A downstream_gene_variant BTCA-JP 7 100279943 100279943 single base substitution A C downstream_gene_variant BTCA-JP 7 100280153 100280153 deletion of <=200bp G - downstream_gene_variant BTCA-JP 7 100280196 100280196 single base substitution C G downstream_gene_variant BTCA-JP 7 100281396 100281396 single base substitution C T downstream_gene_variant BTCA-JP 7 100281717 100281717 single base substitution T C downstream_gene_variant CESC-US 7 100276365 100276365 single base substitution G A downstream_gene_variant CESC-US 7 100276365 100276365 single base substitution G A exon_variant CESC-US 7 100276365 100276365 single base substitution G A missense_variant D222N 664G>A CESC-US 7 100276365 100276365 single base substitution G A missense_variant D278N 832G>A CESC-US 7 100276365 100276365 single base substitution G A missense_variant D322N 964G>A CLLE-ES 7 100266691 100266691 single base substitution A G upstream_gene_variant COAD-US 7 100276356 100276356 single base substitution G A downstream_gene_variant COAD-US 7 100276356 100276356 single base substitution G A exon_variant COAD-US 7 100276356 100276356 single base substitution G A missense_variant G219R 655G>A COAD-US 7 100276356 100276356 single base substitution G A missense_variant G275R 823G>A COAD-US 7 100276356 100276356 single base substitution G A missense_variant G319R 955G>A COAD-US 7 100279946 100279946 single base substitution G A downstream_gene_variant COAD-US 7 100280309 100280309 single base substitution C T downstream_gene_variant COAD-US 7 100280807 100280807 single base substitution G A downstream_gene_variant COAD-US 7 100280850 100280850 single base substitution G A downstream_gene_variant COAD-US 7 100280988 100280988 single base substitution T C downstream_gene_variant COAD-US 7 100281028 100281028 single base substitution C G downstream_gene_variant COAD-US 7 100281519 100281519 single base substitution G T downstream_gene_variant COAD-US 7 100281714 100281714 single base substitution C T downstream_gene_variant COCA-CN 7 100273851 100273851 single base substitution C A 5_prime_UTR_variant COCA-CN 7 100273851 100273851 single base substitution C A exon_variant COCA-CN 7 100273851 100273851 single base substitution C A intron_variant COCA-CN 7 100273851 100273851 single base substitution C A splice_region_variant COCA-CN 7 100273851 100273851 single base substitution C A upstream_gene_variant COCA-CN 7 100275127 100275127 single base substitution G A 5_prime_UTR_variant COCA-CN 7 100275127 100275127 single base substitution G A exon_variant COCA-CN 7 100275127 100275127 single base substitution G A missense_variant A48T 142G>A COCA-CN 7 100275127 100275127 single base substitution G A missense_variant A92T 274G>A COCA-CN 7 100275755 100275755 single base substitution G C downstream_gene_variant COCA-CN 7 100275755 100275755 single base substitution G C exon_variant COCA-CN 7 100275755 100275755 single base substitution G C missense_variant V134L 400G>C COCA-CN 7 100275755 100275755 single base substitution G C missense_variant V178L 532G>C COCA-CN 7 100275755 100275755 single base substitution G C missense_variant V78L 232G>C COCA-CN 7 100276169 100276169 single base substitution G A downstream_gene_variant COCA-CN 7 100276169 100276169 single base substitution G A exon_variant COCA-CN 7 100276169 100276169 single base substitution G A missense_variant R183Q 548G>A COCA-CN 7 100276169 100276169 single base substitution G A missense_variant R239Q 716G>A COCA-CN 7 100276169 100276169 single base substitution G A missense_variant R283Q 848G>A COCA-CN 7 100276246 100276246 single base substitution T C downstream_gene_variant COCA-CN 7 100276246 100276246 single base substitution T C intron_variant COCA-CN 7 100276334 100276334 single base substitution C T downstream_gene_variant COCA-CN 7 100276334 100276334 single base substitution C T exon_variant COCA-CN 7 100276334 100276334 single base substitution C T synonymous_variant H211H 633C>T COCA-CN 7 100276334 100276334 single base substitution C T synonymous_variant H267H 801C>T COCA-CN 7 100276334 100276334 single base substitution C T synonymous_variant H311H 933C>T COCA-CN 7 100281269 100281269 single base substitution G A downstream_gene_variant COCA-CN 7 100281717 100281717 single base substitution T C downstream_gene_variant ESAD-UK 7 100268409 100268409 single base substitution G A upstream_gene_variant ESAD-UK 7 100272423 100272423 single base substitution C A intron_variant ESAD-UK 7 100272423 100272423 single base substitution C A upstream_gene_variant ESAD-UK 7 100278007 100278008 deletion of <=200bp TG - downstream_gene_variant ESAD-UK 7 100279598 100279598 single base substitution C T downstream_gene_variant ESAD-UK 7 100279971 100279971 single base substitution G A downstream_gene_variant ESAD-UK 7 100280991 100280991 single base substitution C T downstream_gene_variant ESAD-UK 7 100281759 100281759 single base substitution C T downstream_gene_variant ESCA-CN 7 100275134 100275134 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant ESCA-CN 7 100275134 100275134 single base substitution C T exon_variant ESCA-CN 7 100275134 100275134 single base substitution C T missense_variant P50L 149C>T ESCA-CN 7 100275134 100275134 single base substitution C T missense_variant P94L 281C>T ESCA-CN 7 100280053 100280053 single base substitution C T downstream_gene_variant KIRC-US 7 100281055 100281055 single base substitution T A downstream_gene_variant KIRP-US 7 100279805 100279805 single base substitution C T downstream_gene_variant LAML-KR 7 100276399 100276399 single base substitution A C downstream_gene_variant LAML-KR 7 100276399 100276399 single base substitution A C exon_variant LAML-KR 7 100276399 100276399 single base substitution A C missense_variant D233A 698A>C LAML-KR 7 100276399 100276399 single base substitution A C missense_variant D289A 866A>C LAML-KR 7 100276399 100276399 single base substitution A C missense_variant D333A 998A>C LGG-US 7 100276231 100276231 single base substitution C A downstream_gene_variant LGG-US 7 100276231 100276231 single base substitution C A exon_variant LGG-US 7 100276231 100276231 single base substitution C A missense_variant R204S 610C>A LGG-US 7 100276231 100276231 single base substitution C A missense_variant R260S 778C>A LGG-US 7 100276231 100276231 single base substitution C A missense_variant R304S 910C>A LGG-US 7 100280314 100280314 single base substitution G A downstream_gene_variant LGG-US 7 100280978 100280980 deletion of <=200bp CTG - downstream_gene_variant LICA-FR 7 100280772 100280772 single base substitution G T downstream_gene_variant LIHC-US 7 100275413 100275413 single base substitution A G downstream_gene_variant LIHC-US 7 100275413 100275413 single base substitution A G exon_variant LIHC-US 7 100275413 100275413 single base substitution A G missense_variant I113V 337A>G LIHC-US 7 100275413 100275413 single base substitution A G missense_variant I157V 469A>G LIHC-US 7 100275413 100275413 single base substitution A G missense_variant I57V 169A>G LINC-JP 7 100272447 100272447 single base substitution C T intron_variant LINC-JP 7 100272447 100272447 single base substitution C T upstream_gene_variant LINC-JP 7 100275961 100275961 single base substitution A T downstream_gene_variant LINC-JP 7 100275961 100275961 single base substitution A T intron_variant LINC-JP 7 100276270 100276270 single base substitution G C downstream_gene_variant LINC-JP 7 100276270 100276270 single base substitution G C intron_variant LINC-JP 7 100276390 100276390 single base substitution G A downstream_gene_variant LINC-JP 7 100276390 100276390 single base substitution G A exon_variant LINC-JP 7 100276390 100276390 single base substitution G A missense_variant G230D 689G>A LINC-JP 7 100276390 100276390 single base substitution G A missense_variant G286D 857G>A LINC-JP 7 100276390 100276390 single base substitution G A missense_variant G330D 989G>A LIRI-JP 7 100268571 100268571 single base substitution G T upstream_gene_variant LIRI-JP 7 100268572 100268572 single base substitution C T upstream_gene_variant LIRI-JP 7 100269526 100269526 single base substitution G A upstream_gene_variant LIRI-JP 7 100274369 100274369 single base substitution C T exon_variant LIRI-JP 7 100274369 100274369 single base substitution C T intron_variant LIRI-JP 7 100274369 100274369 single base substitution C T synonymous_variant T50T 150C>T LIRI-JP 7 100274369 100274369 single base substitution C T synonymous_variant T6T 18C>T LIRI-JP 7 100274369 100274369 single base substitution C T upstream_gene_variant LIRI-JP 7 100275017 100275017 single base substitution G A 5_prime_UTR_variant LIRI-JP 7 100275017 100275017 single base substitution G A exon_variant LIRI-JP 7 100275017 100275017 single base substitution G A intron_variant LIRI-JP 7 100275017 100275017 single base substitution G A stop_gained W38* 114G>A LIRI-JP 7 100275017 100275017 single base substitution G A stop_gained W82* 246G>A LIRI-JP 7 100276106 100276106 single base substitution T G downstream_gene_variant LIRI-JP 7 100276106 100276106 single base substitution T G exon_variant LIRI-JP 7 100276106 100276106 single base substitution T G missense_variant L162R 485T>G LIRI-JP 7 100276106 100276106 single base substitution T G missense_variant L218R 653T>G LIRI-JP 7 100276106 100276106 single base substitution T G missense_variant L262R 785T>G LUSC-KR 7 100269817 100269817 single base substitution T A upstream_gene_variant LUSC-KR 7 100275234 100275234 single base substitution G C downstream_gene_variant LUSC-KR 7 100275234 100275234 single base substitution G C exon_variant LUSC-KR 7 100275234 100275234 single base substitution G C missense_variant K127N 381G>C LUSC-KR 7 100275234 100275234 single base substitution G C missense_variant K27N 81G>C LUSC-KR 7 100275234 100275234 single base substitution G C missense_variant K83N 249G>C LUSC-KR 7 100278295 100278295 single base substitution C G downstream_gene_variant LUSC-KR 7 100280965 100280965 single base substitution G C downstream_gene_variant LUSC-US 7 100274423 100274424 deletion of <=200bp GT - exon_variant LUSC-US 7 100274423 100274424 deletion of <=200bp GT - intron_variant LUSC-US 7 100274423 100274424 deletion of <=200bp GT - splice_donor_variant LUSC-US 7 100274423 100274424 deletion of <=200bp GT - upstream_gene_variant LUSC-US 7 100275765 100275765 single base substitution C T downstream_gene_variant LUSC-US 7 100275765 100275765 single base substitution C T exon_variant LUSC-US 7 100275765 100275765 single base substitution C T missense_variant A137V 410C>T LUSC-US 7 100275765 100275765 single base substitution C T missense_variant A181V 542C>T LUSC-US 7 100275765 100275765 single base substitution C T missense_variant A81V 242C>T LUSC-US 7 100280005 100280005 single base substitution C T downstream_gene_variant MALY-DE 7 100271694 100271694 single base substitution C T intron_variant MALY-DE 7 100271694 100271694 single base substitution C T upstream_gene_variant MALY-DE 7 100272029 100272029 single base substitution T C intron_variant MALY-DE 7 100272029 100272029 single base substitution T C upstream_gene_variant MALY-DE 7 100272610 100272610 insertion of <=200bp - A intron_variant MALY-DE 7 100272610 100272610 insertion of <=200bp - A upstream_gene_variant MALY-DE 7 100274866 100274866 single base substitution C G exon_variant MALY-DE 7 100274866 100274866 single base substitution C G intron_variant MALY-DE 7 100274866 100274866 single base substitution C G upstream_gene_variant MALY-DE 7 100279011 100279011 single base substitution C T downstream_gene_variant MALY-DE 7 100280105 100280105 single base substitution A G downstream_gene_variant MALY-DE 7 100280961 100280961 single base substitution C T downstream_gene_variant MELA-AU 7 100266525 100266525 single base substitution C T upstream_gene_variant MELA-AU 7 100266642 100266642 single base substitution G A upstream_gene_variant MELA-AU 7 100267042 100267042 single base substitution C A upstream_gene_variant MELA-AU 7 100267460 100267460 single base substitution A G upstream_gene_variant MELA-AU 7 100267468 100267468 single base substitution C T upstream_gene_variant MELA-AU 7 100267616 100267616 single base substitution C T upstream_gene_variant MELA-AU 7 100267623 100267623 single base substitution C T upstream_gene_variant MELA-AU 7 100267747 100267747 single base substitution G A upstream_gene_variant MELA-AU 7 100267920 100267920 single base substitution C T upstream_gene_variant MELA-AU 7 100268114 100268114 single base substitution C T upstream_gene_variant MELA-AU 7 100268514 100268514 single base substitution C T upstream_gene_variant MELA-AU 7 100268605 100268605 single base substitution T A upstream_gene_variant MELA-AU 7 100268709 100268709 single base substitution A C upstream_gene_variant MELA-AU 7 100269116 100269116 single base substitution C T upstream_gene_variant MELA-AU 7 100269236 100269236 single base substitution C T upstream_gene_variant MELA-AU 7 100270519 100270519 single base substitution G A upstream_gene_variant MELA-AU 7 100270967 100270967 single base substitution C T upstream_gene_variant MELA-AU 7 100270975 100270975 single base substitution C T upstream_gene_variant MELA-AU 7 100271037 100271038 multiple base substitution (>=2bp and <=200bp) GA AC upstream_gene_variant MELA-AU 7 100271114 100271114 single base substitution G A upstream_gene_variant MELA-AU 7 100272999 100272999 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 7 100272999 100272999 single base substitution C T intron_variant MELA-AU 7 100272999 100272999 single base substitution C T upstream_gene_variant MELA-AU 7 100273503 100273504 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 100273503 100273504 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 7 100273719 100273719 single base substitution C T intron_variant MELA-AU 7 100273719 100273719 single base substitution C T upstream_gene_variant MELA-AU 7 100273838 100273838 single base substitution C T 5_prime_UTR_variant MELA-AU 7 100273838 100273838 single base substitution C T intron_variant MELA-AU 7 100273838 100273838 single base substitution C T upstream_gene_variant MELA-AU 7 100273901 100273901 single base substitution G T exon_variant MELA-AU 7 100273901 100273901 single base substitution G T intron_variant MELA-AU 7 100273901 100273901 single base substitution G T stop_gained E5* 13G>T MELA-AU 7 100273901 100273901 single base substitution G T upstream_gene_variant MELA-AU 7 100274057 100274057 single base substitution C T intron_variant MELA-AU 7 100274057 100274057 single base substitution C T upstream_gene_variant MELA-AU 7 100274728 100274728 single base substitution C T exon_variant MELA-AU 7 100274728 100274728 single base substitution C T intron_variant MELA-AU 7 100274728 100274728 single base substitution C T upstream_gene_variant MELA-AU 7 100274735 100274735 single base substitution A G exon_variant MELA-AU 7 100274735 100274735 single base substitution A G intron_variant MELA-AU 7 100274735 100274735 single base substitution A G upstream_gene_variant MELA-AU 7 100274907 100274908 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 7 100274907 100274908 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 100274907 100274908 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 7 100275859 100275859 single base substitution C G downstream_gene_variant MELA-AU 7 100275859 100275859 single base substitution C G exon_variant MELA-AU 7 100275859 100275859 single base substitution C G missense_variant D112E 336C>G MELA-AU 7 100275859 100275859 single base substitution C G missense_variant D168E 504C>G MELA-AU 7 100275859 100275859 single base substitution C G missense_variant D212E 636C>G MELA-AU 7 100276403 100276403 single base substitution C T downstream_gene_variant MELA-AU 7 100276403 100276403 single base substitution C T exon_variant MELA-AU 7 100276403 100276403 single base substitution C T synonymous_variant S234S 702C>T MELA-AU 7 100276403 100276403 single base substitution C T synonymous_variant S290S 870C>T MELA-AU 7 100276403 100276403 single base substitution C T synonymous_variant S334S 1002C>T MELA-AU 7 100276977 100276977 single base substitution G A downstream_gene_variant MELA-AU 7 100277578 100277578 single base substitution G A downstream_gene_variant MELA-AU 7 100279101 100279101 single base substitution T C downstream_gene_variant MELA-AU 7 100279171 100279171 single base substitution A T downstream_gene_variant MELA-AU 7 100280459 100280460 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 7 100280807 100280807 single base substitution G A downstream_gene_variant MELA-AU 7 100281262 100281262 single base substitution G A downstream_gene_variant MELA-AU 7 100281270 100281270 single base substitution G A downstream_gene_variant ORCA-IN 7 100266466 100266466 single base substitution C T upstream_gene_variant ORCA-IN 7 100270671 100270671 single base substitution G A upstream_gene_variant ORCA-IN 7 100275768 100275768 single base substitution G C downstream_gene_variant ORCA-IN 7 100275768 100275768 single base substitution G C exon_variant ORCA-IN 7 100275768 100275768 single base substitution G C missense_variant G138A 413G>C ORCA-IN 7 100275768 100275768 single base substitution G C missense_variant G182A 545G>C ORCA-IN 7 100275768 100275768 single base substitution G C missense_variant G82A 245G>C ORCA-IN 7 100276214 100276214 single base substitution A G downstream_gene_variant ORCA-IN 7 100276214 100276214 single base substitution A G exon_variant ORCA-IN 7 100276214 100276214 single base substitution A G missense_variant D198G 593A>G ORCA-IN 7 100276214 100276214 single base substitution A G missense_variant D254G 761A>G ORCA-IN 7 100276214 100276214 single base substitution A G missense_variant D298G 893A>G ORCA-IN 7 100276228 100276228 single base substitution G A downstream_gene_variant ORCA-IN 7 100276228 100276228 single base substitution G A exon_variant ORCA-IN 7 100276228 100276228 single base substitution G A missense_variant D203N 607G>A ORCA-IN 7 100276228 100276228 single base substitution G A missense_variant D259N 775G>A ORCA-IN 7 100276228 100276228 single base substitution G A missense_variant D303N 907G>A ORCA-IN 7 100280821 100280821 single base substitution T A downstream_gene_variant OV-AU 7 100266229 100266229 single base substitution C T upstream_gene_variant OV-AU 7 100267760 100267760 single base substitution A G upstream_gene_variant OV-AU 7 100267957 100267957 single base substitution C G upstream_gene_variant OV-AU 7 100268149 100268149 single base substitution C G upstream_gene_variant OV-AU 7 100269927 100269927 single base substitution G T upstream_gene_variant OV-AU 7 100276112 100276112 single base substitution A T downstream_gene_variant OV-AU 7 100276112 100276112 single base substitution A T exon_variant OV-AU 7 100276112 100276112 single base substitution A T missense_variant Y164F 491A>T OV-AU 7 100276112 100276112 single base substitution A T missense_variant Y220F 659A>T OV-AU 7 100276112 100276112 single base substitution A T missense_variant Y264F 791A>T OV-AU 7 100278199 100278199 single base substitution C T downstream_gene_variant OV-AU 7 100280988 100280988 single base substitution T G downstream_gene_variant OV-US 7 100275154 100275154 single base substitution A G exon_variant OV-US 7 100275154 100275154 single base substitution A G missense_variant M101V 301A>G OV-US 7 100275154 100275154 single base substitution A G missense_variant M57V 169A>G OV-US 7 100275154 100275154 single base substitution A G start_lost M1V 1A>G OV-US 7 100275155 100275155 single base substitution T C exon_variant OV-US 7 100275155 100275155 single base substitution T C missense_variant M101T 302T>C OV-US 7 100275155 100275155 single base substitution T C missense_variant M57T 170T>C OV-US 7 100275155 100275155 single base substitution T C start_lost M1T 2T>C PACA-AU 7 100266352 100266352 single base substitution C T upstream_gene_variant PACA-AU 7 100266467 100266467 single base substitution G A upstream_gene_variant PACA-AU 7 100270390 100270390 single base substitution G T upstream_gene_variant PACA-AU 7 100270831 100270831 single base substitution C A upstream_gene_variant PACA-AU 7 100271476 100271476 single base substitution T G 5_prime_UTR_variant PACA-AU 7 100271476 100271476 single base substitution T G intron_variant PACA-AU 7 100271476 100271476 single base substitution T G upstream_gene_variant PACA-AU 7 100275707 100275707 single base substitution T C downstream_gene_variant PACA-AU 7 100275707 100275707 single base substitution T C intron_variant PACA-AU 7 100279408 100279408 single base substitution G C downstream_gene_variant PACA-AU 7 100279806 100279806 single base substitution G A downstream_gene_variant PACA-AU 7 100281132 100281132 single base substitution C T downstream_gene_variant PACA-CA 7 100267312 100267312 insertion of <=200bp - G upstream_gene_variant PACA-CA 7 100268895 100268895 single base substitution A G upstream_gene_variant PACA-CA 7 100269496 100269496 single base substitution C G upstream_gene_variant PACA-CA 7 100270795 100270795 single base substitution C T upstream_gene_variant PACA-CA 7 100272359 100272359 single base substitution C T intron_variant PACA-CA 7 100272359 100272359 single base substitution C T upstream_gene_variant PACA-CA 7 100276845 100276845 single base substitution G C downstream_gene_variant PACA-CA 7 100278112 100278127 deletion of <=200bp ACTTCTCTTCACCCCA - downstream_gene_variant PACA-CA 7 100279302 100279302 insertion of <=200bp - G downstream_gene_variant PAEN-AU 7 100279278 100279278 single base substitution A C downstream_gene_variant PAEN-AU 7 100281606 100281606 single base substitution C A downstream_gene_variant PBCA-DE 7 100266307 100266307 single base substitution C T upstream_gene_variant PBCA-DE 7 100267839 100267839 single base substitution G A upstream_gene_variant PBCA-DE 7 100273095 100273095 single base substitution T C intron_variant PBCA-DE 7 100273095 100273095 single base substitution T C upstream_gene_variant PBCA-DE 7 100276908 100276908 single base substitution T G downstream_gene_variant PBCA-DE 7 100277725 100277725 single base substitution T G downstream_gene_variant PBCA-DE 7 100277737 100277737 single base substitution A C downstream_gene_variant PRAD-CA 7 100267498 100267498 single base substitution C T upstream_gene_variant PRAD-UK 7 100278040 100278040 single base substitution C G downstream_gene_variant PRAD-US 7 100274423 100274424 deletion of <=200bp GT - exon_variant PRAD-US 7 100274423 100274424 deletion of <=200bp GT - intron_variant PRAD-US 7 100274423 100274424 deletion of <=200bp GT - splice_donor_variant PRAD-US 7 100274423 100274424 deletion of <=200bp GT - upstream_gene_variant PRAD-US 7 100280926 100280926 single base substitution C T downstream_gene_variant SKCA-BR 7 100266794 100266794 single base substitution G A upstream_gene_variant SKCA-BR 7 100267217 100267217 single base substitution C T upstream_gene_variant SKCA-BR 7 100270096 100270096 single base substitution C T upstream_gene_variant SKCA-BR 7 100271533 100271533 single base substitution T C 5_prime_UTR_variant SKCA-BR 7 100271533 100271533 single base substitution T C intron_variant SKCA-BR 7 100271533 100271533 single base substitution T C upstream_gene_variant SKCA-BR 7 100272343 100272343 single base substitution G C intron_variant SKCA-BR 7 100272343 100272343 single base substitution G C upstream_gene_variant SKCA-BR 7 100272995 100272995 single base substitution T C 5_prime_UTR_variant SKCA-BR 7 100272995 100272995 single base substitution T C intron_variant SKCA-BR 7 100272995 100272995 single base substitution T C upstream_gene_variant SKCA-BR 7 100273486 100273486 single base substitution A G intron_variant SKCA-BR 7 100273486 100273486 single base substitution A G upstream_gene_variant SKCA-BR 7 100273492 100273492 single base substitution A C intron_variant SKCA-BR 7 100273492 100273492 single base substitution A C upstream_gene_variant SKCA-BR 7 100273737 100273737 single base substitution A C intron_variant SKCA-BR 7 100273737 100273737 single base substitution A C upstream_gene_variant SKCA-BR 7 100275050 100275050 single base substitution C T intron_variant SKCA-BR 7 100276625 100276625 single base substitution A G 3_prime_UTR_variant SKCA-BR 7 100276625 100276625 single base substitution A G downstream_gene_variant SKCA-BR 7 100276625 100276625 single base substitution A G exon_variant SKCA-BR 7 100278393 100278393 single base substitution A C downstream_gene_variant SKCM-US 7 100274423 100274424 deletion of <=200bp GT - exon_variant SKCM-US 7 100274423 100274424 deletion of <=200bp GT - intron_variant SKCM-US 7 100274423 100274424 deletion of <=200bp GT - splice_donor_variant SKCM-US 7 100274423 100274424 deletion of <=200bp GT - upstream_gene_variant SKCM-US 7 100275174 100275174 single base substitution C T downstream_gene_variant SKCM-US 7 100275174 100275174 single base substitution C T exon_variant SKCM-US 7 100275174 100275174 single base substitution C T synonymous_variant P107P 321C>T SKCM-US 7 100275174 100275174 single base substitution C T synonymous_variant P63P 189C>T SKCM-US 7 100275174 100275174 single base substitution C T synonymous_variant P7P 21C>T SKCM-US 7 100275731 100275731 single base substitution G A downstream_gene_variant SKCM-US 7 100275731 100275731 single base substitution G A exon_variant SKCM-US 7 100275731 100275731 single base substitution G A missense_variant D126N 376G>A SKCM-US 7 100275731 100275731 single base substitution G A missense_variant D170N 508G>A SKCM-US 7 100275731 100275731 single base substitution G A missense_variant D70N 208G>A SKCM-US 7 100281204 100281204 single base substitution G A downstream_gene_variant SKCM-US 7 100281648 100281648 single base substitution G A downstream_gene_variant SKCM-US 7 100281686 100281688 deletion of <=200bp GCT - downstream_gene_variant SKCM-US 7 100281709 100281709 single base substitution G A downstream_gene_variant STAD-US 7 100275127 100275127 single base substitution G A 5_prime_UTR_variant STAD-US 7 100275127 100275127 single base substitution G A exon_variant STAD-US 7 100275127 100275127 single base substitution G A missense_variant A48T 142G>A STAD-US 7 100275127 100275127 single base substitution G A missense_variant A92T 274G>A STAD-US 7 100275393 100275393 single base substitution G A downstream_gene_variant STAD-US 7 100275393 100275393 single base substitution G A exon_variant STAD-US 7 100275393 100275393 single base substitution G A missense_variant R106H 317G>A STAD-US 7 100275393 100275393 single base substitution G A missense_variant R150H 449G>A STAD-US 7 100275393 100275393 single base substitution G A missense_variant R50H 149G>A STAD-US 7 100276081 100276081 single base substitution G A downstream_gene_variant STAD-US 7 100276081 100276081 single base substitution G A exon_variant STAD-US 7 100276081 100276081 single base substitution G A missense_variant D154N 460G>A STAD-US 7 100276081 100276081 single base substitution G A missense_variant D210N 628G>A STAD-US 7 100276081 100276081 single base substitution G A missense_variant D254N 760G>A STAD-US 7 100276158 100276158 single base substitution G A downstream_gene_variant STAD-US 7 100276158 100276158 single base substitution G A exon_variant STAD-US 7 100276158 100276158 single base substitution G A synonymous_variant S179S 537G>A STAD-US 7 100276158 100276158 single base substitution G A synonymous_variant S235S 705G>A STAD-US 7 100276158 100276158 single base substitution G A synonymous_variant S279S 837G>A STAD-US 7 100276170 100276170 single base substitution G A downstream_gene_variant STAD-US 7 100276170 100276170 single base substitution G A exon_variant STAD-US 7 100276170 100276170 single base substitution G A synonymous_variant R183R 549G>A STAD-US 7 100276170 100276170 single base substitution G A synonymous_variant R239R 717G>A STAD-US 7 100276170 100276170 single base substitution G A synonymous_variant R283R 849G>A STAD-US 7 100279802 100279802 single base substitution A G downstream_gene_variant STAD-US 7 100279976 100279976 single base substitution C T downstream_gene_variant STAD-US 7 100280085 100280085 single base substitution G A downstream_gene_variant STAD-US 7 100280373 100280373 deletion of <=200bp G - downstream_gene_variant STAD-US 7 100281681 100281681 single base substitution C T downstream_gene_variant STAD-US 7 100281714 100281714 single base substitution C T downstream_gene_variant STAD-US 7 100281778 100281778 single base substitution C T downstream_gene_variant THCA-US 7 100280993 100280994 deletion of <=200bp GC - downstream_gene_variant UCEC-US 7 100274167 100274167 single base substitution A C 5_prime_UTR_variant UCEC-US 7 100274167 100274167 single base substitution A C exon_variant UCEC-US 7 100274167 100274167 single base substitution A C intron_variant UCEC-US 7 100274167 100274167 single base substitution A C missense_variant K23Q 67A>C UCEC-US 7 100274167 100274167 single base substitution A C splice_region_variant UCEC-US 7 100274167 100274167 single base substitution A C upstream_gene_variant UCEC-US 7 100274361 100274361 single base substitution C T exon_variant UCEC-US 7 100274361 100274361 single base substitution C T intron_variant UCEC-US 7 100274361 100274361 single base substitution C T missense_variant R48W 142C>T UCEC-US 7 100274361 100274361 single base substitution C T missense_variant R4W 10C>T UCEC-US 7 100274361 100274361 single base substitution C T upstream_gene_variant UCEC-US 7 100274422 100274422 insertion of <=200bp - GT exon_variant UCEC-US 7 100274422 100274422 insertion of <=200bp - GT frameshift_variant R24S? UCEC-US 7 100274422 100274422 insertion of <=200bp - GT frameshift_variant R68S? UCEC-US 7 100274422 100274422 insertion of <=200bp - GT intron_variant UCEC-US 7 100274422 100274422 insertion of <=200bp - GT upstream_gene_variant UCEC-US 7 100274423 100274424 deletion of <=200bp GT - exon_variant UCEC-US 7 100274423 100274424 deletion of <=200bp GT - intron_variant UCEC-US 7 100274423 100274424 deletion of <=200bp GT - splice_donor_variant UCEC-US 7 100274423 100274424 deletion of <=200bp GT - upstream_gene_variant UCEC-US 7 100274988 100274988 single base substitution G A 5_prime_UTR_variant UCEC-US 7 100274988 100274988 single base substitution G A exon_variant UCEC-US 7 100274988 100274988 single base substitution G A intron_variant UCEC-US 7 100274988 100274988 single base substitution G A missense_variant A29T 85G>A UCEC-US 7 100274988 100274988 single base substitution G A missense_variant A73T 217G>A UCEC-US 7 100274988 100274988 single base substitution G A upstream_gene_variant UCEC-US 7 100275169 100275169 single base substitution G A downstream_gene_variant UCEC-US 7 100275169 100275169 single base substitution G A exon_variant UCEC-US 7 100275169 100275169 single base substitution G A missense_variant A106T 316G>A UCEC-US 7 100275169 100275169 single base substitution G A missense_variant A62T 184G>A UCEC-US 7 100275169 100275169 single base substitution G A missense_variant A6T 16G>A UCEC-US 7 100275829 100275829 single base substitution C T downstream_gene_variant UCEC-US 7 100275829 100275829 single base substitution C T exon_variant UCEC-US 7 100275829 100275829 single base substitution C T synonymous_variant G102G 306C>T UCEC-US 7 100275829 100275829 single base substitution C T synonymous_variant G158G 474C>T UCEC-US 7 100275829 100275829 single base substitution C T synonymous_variant G202G 606C>T UCEC-US 7 100279806 100279806 single base substitution G A downstream_gene_variant UCEC-US 7 100279843 100279843 single base substitution G A downstream_gene_variant UCEC-US 7 100280070 100280070 single base substitution C T downstream_gene_variant UCEC-US 7 100280938 100280938 single base substitution G A downstream_gene_variant UCEC-US 7 100281723 100281723 single base substitution C T downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-D1-A17H-01 COSM1082917 c.203_203+1insGT p.L69fs*33 Unknown 7:100676799-100676800 + J76_T COSM3949581 c.381G>C p.K127N Substitution - Missense 7:100677611-100677611 + TCGA-DB-A4XE-01 COSM3928671 c.910C>A p.R304S Substitution - Missense 7:100678608-100678608 + TC71 COSM3080668 c.871_880del10 p.D291fs*7 Deletion - Frameshift 7:100678569-100678578 + TCGA-FU-A3HZ-01 COSM4840979 c.964G>A p.D322N Substitution - Missense 7:100678742-100678742 + T26 COSM5345224 c.195C>T p.T65T Substitution - coding silent 7:100676791-100676791 + TCGA-13-0912-01 COSM74773 c.302T>C p.M101T Substitution - Missense 7:100677532-100677532 + sysucc-1317T COSM4687440 c.848G>A p.R283Q Substitution - Missense 7:100678546-100678546 + LUAD-YINHD COSM351467 c.83C>G p.S28* Substitution - Nonsense 7:100676560-100676560 + 2492729 COSM5729881 c.5G>A p.S2N Substitution - Missense 7:100676270-100676270 + Gp2D COSM3080663 c.759C>T p.F253F Substitution - coding silent 7:100678457-100678457 + 587248 COSM1208409 c.682G>A p.D228N Substitution - Missense 7:100678282-100678282 + 19M COSM5578633 c.917-1G>T p.? Unknown 7:100678694-100678694 + TCGA-19-2619 COSM2156186 c.695T>G p.V232G Substitution - Missense 7:100678295-100678295 + STC252 COSM5062017 c.73T>C p.C25R Substitution - Missense 7:100676550-100676550 + 51 COSM5734610 c.314A>G p.Y105C Substitution - Missense 7:100677544-100677544 + U373 COSM1673378 c.535G>T p.G179C Substitution - Missense 7:100678135-100678135 + TCGA-BR-4184-01 COSM3080646 c.274G>A p.A92T Substitution - Missense 7:100677504-100677504 + QC2-11-T2 COSM5652306 c.266A>C p.K89T Substitution - Missense 7:100677414-100677414 + TCGA-19-2619 COSM2156121 c.692C>T p.A231V Substitution - Missense 7:100678292-100678292 + T1232 COSM4687438 c.248A>G p.D83G Substitution - Missense 7:100677396-100677396 + TCGA-BG-A0MQ-01 COSM1082921 c.533T>C p.V178A Substitution - Missense 7:100678133-100678133 + TCGA-10-0930-01 COSM74772 c.301A>G p.M101V Substitution - Missense 7:100677531-100677531 + KYSE-180 COSM3080651 c.432G>T p.G144G Substitution - coding silent 7:100677753-100677753 + sysucc-1163T COSM5459281 c.916+9T>C p.? Unknown 7:100678623-100678623 + B34 COSM1754977 c.83C>T p.S28L Substitution - Missense 7:100676560-100676560 + S00838 COSM5661692 c.866A>G p.Y289C Substitution - Missense 7:100678564-100678564 + AOCS-078-1-9 COSM4153677 c.791A>T p.Y264F Substitution - Missense 7:100678489-100678489 + 394 COSM4428584 c.580C>G p.P194A Substitution - Missense 7:100678180-100678180 + 19 COSM5746771 c.752G>A p.R251H Substitution - Missense 7:100678450-100678450 + TCGA-19-2619 COSM2156122 c.697G>C p.A233P Substitution - Missense 7:100678297-100678297 + RK308_C01 COSM3745419 c.246G>A p.W82* Substitution - Nonsense 7:100677394-100677394 + OSCC-GB_01090111 COSM4886404 c.907G>A p.D303N Substitution - Missense 7:100678605-100678605 + sysucc-1315T COSM5480156 c.532G>C p.V178L Substitution - Missense 7:100678132-100678132 + TCGA-BS-A0UF-01 COSM1082920 c.316G>A p.A106T Substitution - Missense 7:100677546-100677546 + TCGA-BR-4184-01 COSM3876369 c.449G>A p.R150H Substitution - Missense 7:100677770-100677770 + B34-Tumor COSM1754977 c.83C>T p.S28L Substitution - Missense 7:100676560-100676560 + CLL008 COSM1292385 c.571T>G p.S191A Substitution - Missense 7:100678171-100678171 + T1154 COSM4687441 c.1021T>C p.*341Q Nonstop extension 7:100678799-100678799 + TCGA-CH-5769-01 COSM1131774 c.423C>T p.G141G Substitution - coding silent 7:100677653-100677653 + TCGA-FS-A4FD-06 COSM3630869 c.508G>A p.D170N Substitution - Missense 7:100678108-100678108 + CN-AML-CR-10-Dx COSM5426408 c.998A>C p.D333A Substitution - Missense 7:100678776-100678776 + sysucc-1370T COSM3080646 c.274G>A p.A92T Substitution - Missense 7:100677504-100677504 + 61 COSM5738057 c.158G>T p.G53V Substitution - Missense 7:100676754-100676754 + RKO COSM4649028 c.853C>T p.L285L Substitution - coding silent 7:100678551-100678551 + TCGA-D1-A103-01 COSM1082919 c.217G>A p.A73T Substitution - Missense 7:100677365-100677365 + TCGA-BR-8361-01 COSM3876371 c.837G>A p.S279S Substitution - coding silent 7:100678535-100678535 + TCGA-AP-A056-01 COSM1082922 c.606C>T p.G202G Substitution - coding silent 7:100678206-100678206 + RK119_C01 COSM3745418 c.150C>T p.T50T Substitution - coding silent 7:100676746-100676746 + V-PH-16T COSM1082918 c.203+1_203+2delGT p.? Unknown 7:100676800-100676801 + TCGA-C8-A26W-01 COSM1488021 c.922C>T p.L308F Substitution - Missense 7:100678700-100678700 + TCGA-CG-5723-01 COSM3876370 c.760G>A p.D254N Substitution - Missense 7:100678458-100678458 + 385 COSM3080661 c.637G>A p.V213M Substitution - Missense 7:100678237-100678237 + ZZUFHECRKL-G055T COSM5440426 c.281C>T p.P94L Substitution - Missense 7:100677511-100677511 + T2940 COSM4687439 c.282G>A p.P94P Substitution - coding silent 7:100677512-100677512 + SNU-175 COSM3080657 c.573C>A p.S191S Substitution - coding silent 7:100678173-100678173 + TCGA-BR-7851-01 COSM3876372 c.849G>A p.R283R Substitution - coding silent 7:100678547-100678547 + TCGA-19-2619 COSM2156187 c.694G>A p.V232M Substitution - Missense 7:100678294-100678294 + OSCC-GB_01250111 COSM5954689 c.893A>G p.D298G Substitution - Missense 7:100678591-100678591 + TCGA-EE-A2GJ-06 COSM3630868 c.321C>T p.P107P Substitution - coding silent 7:100677551-100677551 + 442 COSM1082918 c.203+1_203+2delGT p.? Unknown 7:100676800-100676801 + TCGA-19-2619 COSM2156123 c.698C>T p.A233V Substitution - Missense 7:100678298-100678298 + sysucc-1163T COSM5459282 c.933C>T p.H311H Substitution - coding silent 7:100678711-100678711 + LUAD_E01047 COSM390308 c.556G>A p.D186N Substitution - Missense 7:100678156-100678156 + TCGA-D1-A177-01 COSM1082918 c.203+1_203+2delGT p.? Unknown 7:100676800-100676801 + SNU-C4 COSM4654155 c.777G>A p.Q259Q Substitution - coding silent 7:100678475-100678475 + 587228 COSM1208408 c.155G>A p.R52H Substitution - Missense 7:100676751-100676751 + TCGA-BK-A139-01 COSM1082918 c.203+1_203+2delGT p.? Unknown 7:100676800-100676801 + TCGA-19-2619 COSM2156120 c.691G>C p.A231P Substitution - Missense 7:100678291-100678291 + Gp5D COSM3080663 c.759C>T p.F253F Substitution - coding silent 7:100678457-100678457 + 587220 COSM1208407 c.607G>A p.A203T Substitution - Missense 7:100678207-100678207 + PD11358a COSM5786271 c.700-8T>C p.? Unknown 7:100678390-100678390 + TCGA-22-5491-01 COSM743712 c.542C>T p.A181V Substitution - Missense 7:100678142-100678142 + 46M COSM5587886 c.421G>A p.G141S Substitution - Missense 7:100677651-100677651 + TCGA-DM-A1DB-01 COSM1446616 c.955G>A p.G319R Substitution - Missense 7:100678733-100678733 + HX4T COSM1622070 c.989G>A p.G330D Substitution - Missense 7:100678767-100678767 + TCGA-B5-A0JY-01 COSM1082915 c.67A>C p.K23Q Substitution - Missense 7:100676544-100676544 + E21 COSM1666545 c.866_868delACG p.D291delD Deletion - In frame 7:100678564-100678566 + TCGA-19-2619 COSM2156147 c.690T>C p.N230N Substitution - coding silent 7:100678290-100678290 + OSCC-GB_00980111 COSM4882130 c.545G>C p.G182A Substitution - Missense 7:100678145-100678145 + T3080 COSM4687440 c.848G>A p.R283Q Substitution - Missense 7:100678546-100678546 + SNB19 COSM1673378 c.535G>T p.G179C Substitution - Missense 7:100678135-100678135 + 587220 COSM1082916 c.142C>T p.R48W Substitution - Missense 7:100676738-100676738 + TCGA-CC-A3MC-01 COSM4919487 c.469A>G p.I157V Substitution - Missense 7:100677790-100677790 + TCGA-D1-A103-01 COSM1082916 c.142C>T p.R48W Substitution - Missense 7:100676738-100676738 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.185118;Hs.185172 7q22 139390

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.K78E c.232A>G 7 100275003 CM A G Missense p.M101V c.301A>G 7 100275154 OV A T Synonymous p.T173T c.519A>T 7 100275742 LUAD C T Missense p.A181V c.542C>T 7 100275765 LUSC C T Missense p.L308F c.922C>T 7 100276323 BRCA C T Synonymous p.F278F c.834C>T 7 100276155 HNSC C T Synonymous p.P107P c.321C>T 7 100275174 CM GAAG - Frameshift p.K301Afs*14 c.901_904delAAGG 7 100276221 HNSC G A Missense p.D153N c.457G>A 7 100275401 HNSC GT - SpliceDonorDeletion . c.203+12_203+13delTG 7 100274423 BRCA GT - SpliceDonorDeletion . c.203+12_203+13delTG 7 100274423 CM GT - SpliceDonorDeletion . c.203+12_203+13delTG 7 100274423 HNSC GT - SpliceDonorDeletion . c.203+12_203+13delTG 7 100274423 LUSC GT - SpliceDonorDeletion . c.203+12_203+13delTG 7 100274423 UCEC - GT SpliceDonorInsertion . c.203+1_203+2insGT 7 100274423 UCEC T A Missense p.Y124N c.370T>A 7 100275223 BRCA T C Missense p.M101T c.302T>C 7 100275155 OV T G Missense p.S191A c.571T>G 7 100275794 CLL