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 74193748 74193748 + Silent SNP C C G TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 g.chr7:74193748C>G c.375C>G c.(373-375)ctC>ctG p.L125L BLCA 7 74193759 74193759 + Missense_Mutation SNP C C T TCGA-KQ-A41R-01A-21D-A34U-08 TCGA-KQ-A41R-10G-01D-A34X-08 g.chr7:74193759C>T c.386C>T c.(385-387)aCg>aTg p.T129M BRCA 7 74193727 74193727 + Missense_Mutation SNP C C G TCGA-A8-A09I-01A-22W-A050-09 TCGA-A8-A09I-10A-01W-A055-09 g.chr7:74193727C>G c.354C>G c.(352-354)ttC>ttG p.F118L BRCA 7 74202954 74202954 + Silent SNP C C T TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 g.chr7:74202954C>T c.957C>T c.(955-957)ctC>ctT p.L319L CESC 7 74203029 74203029 + Silent SNP G G A TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 g.chr7:74203029G>A c.1032G>A c.(1030-1032)caG>caA p.Q344Q COAD 7 74191647 74191647 + Missense_Mutation SNP C C T TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr7:74191647C>T c.107C>T c.(106-108)tCg>tTg p.S36L COAD 7 74193734 74193734 + Missense_Mutation SNP C C T TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr7:74193734C>T c.361C>T c.(361-363)Cgc>Tgc p.R121C COAD 7 74195135 74195135 + Missense_Mutation SNP G G T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr7:74195135G>T c.405G>T c.(403-405)aaG>aaT p.K135N COAD 7 74202413 74202414 + Frame_Shift_Ins INS - - G TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr7:74202413_74202414insG c.886_887insG c.(886-888)cggfs p.R296fs COADREAD 7 74191647 74191647 + Missense_Mutation SNP C C T TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr7:74191647C>T c.107C>T c.(106-108)tCg>tTg p.S36L COADREAD 7 74193734 74193734 + Missense_Mutation SNP C C T TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr7:74193734C>T c.361C>T c.(361-363)Cgc>Tgc p.R121C COADREAD 7 74195135 74195135 + Missense_Mutation SNP G G T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr7:74195135G>T c.405G>T c.(403-405)aaG>aaT p.K135N COADREAD 7 74202413 74202414 + Frame_Shift_Ins INS - - G TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr7:74202413_74202414insG c.886_887insG c.(886-888)cggfs p.R296fs ESCA 7 74193766 74193766 + Missense_Mutation SNP C C A TCGA-VR-A8EW-01A-11D-A36J-09 TCGA-VR-A8EW-10A-01D-A36M-09 g.chr7:74193766C>A c.393C>A c.(391-393)aaC>aaA p.N131K GBM 7 74193497 74193497 + Missense_Mutation SNP C C T TCGA-14-1829-01A-01W-0643-08 TCGA-14-1829-10A-01W-0644-08 g.chr7:74193497C>T c.223C>T c.(223-225)Ctc>Ttc p.L75F GBMLGG 7 74191612 74191612 + Splice_Site SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr7:74191612G>T c.e2-1 GBMLGG 7 74193497 74193497 + Missense_Mutation SNP C C T TCGA-14-1829-01A-01W-0643-08 TCGA-14-1829-10A-01W-0644-08 g.chr7:74193497C>T c.223C>T c.(223-225)Ctc>Ttc p.L75F GBMLGG 7 74193659 74193659 + Missense_Mutation SNP G G A TCGA-DU-A76R-01A-11D-A32B-08 TCGA-DU-A76R-10A-01D-A329-08 g.chr7:74193659G>A c.286G>A c.(286-288)Gag>Aag p.E96K GBMLGG 7 74203029 74203029 + Silent SNP G G A TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 g.chr7:74203029G>A c.1032G>A c.(1030-1032)caG>caA p.Q344Q HNSC 7 74193715 74193715 + Silent SNP C C T TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr7:74193715C>T c.342C>T c.(340-342)ctC>ctT p.L114L HNSC 7 74193734 74193734 + Missense_Mutation SNP C C T TCGA-HD-A634-01A-11D-A28R-08 TCGA-HD-A634-10A-01D-A28U-08 g.chr7:74193734C>T c.361C>T c.(361-363)Cgc>Tgc p.R121C HNSC 7 74197366 74197366 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr7:74197366C>T c.536C>T c.(535-537)aCg>aTg p.T179M KICH 7 74193718 74193718 + Silent SNP C C T TCGA-KO-8406-01A-11D-2310-10 TCGA-KO-8406-11A-01D-2311-10 g.chr7:74193718C>T c.345C>T c.(343-345)ctC>ctT p.L115L KICH 7 74197914 74197914 + Silent SNP G G A TCGA-KO-8404-01A-11D-2310-10 TCGA-KO-8404-11A-01D-2311-10 g.chr7:74197914G>A c.621G>A c.(619-621)gcG>gcA p.A207A KIPAN 7 74191683 74191683 + Missense_Mutation SNP A A G TCGA-BP-4770-01A-01D-1501-10 TCGA-BP-4770-11A-01D-1501-10 g.chr7:74191683A>G c.143A>G c.(142-144)tAc>tGc p.Y48C KIPAN 7 74193718 74193718 + Silent SNP C C T TCGA-KO-8406-01A-11D-2310-10 TCGA-KO-8406-11A-01D-2311-10 g.chr7:74193718C>T c.345C>T c.(343-345)ctC>ctT p.L115L KIPAN 7 74197914 74197914 + Silent SNP G G A TCGA-KO-8404-01A-11D-2310-10 TCGA-KO-8404-11A-01D-2311-10 g.chr7:74197914G>A c.621G>A c.(619-621)gcG>gcA p.A207A KIRC 7 74191683 74191683 + Missense_Mutation SNP A A G TCGA-BP-4770-01A-01D-1501-10 TCGA-BP-4770-11A-01D-1501-10 g.chr7:74191683A>G c.143A>G c.(142-144)tAc>tGc p.Y48C LGG 7 74191612 74191612 + Splice_Site SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr7:74191612G>T c.e2-1 LGG 7 74193659 74193659 + Missense_Mutation SNP G G A TCGA-DU-A76R-01A-11D-A32B-08 TCGA-DU-A76R-10A-01D-A329-08 g.chr7:74193659G>A c.286G>A c.(286-288)Gag>Aag p.E96K LGG 7 74203029 74203029 + Silent SNP G G A TCGA-DU-A5TW-01A-11D-A289-08 TCGA-DU-A5TW-10A-01D-A289-08 g.chr7:74203029G>A c.1032G>A c.(1030-1032)caG>caA p.Q344Q LIHC 7 74202414 74202414 + Frame_Shift_Del DEL G G - TCGA-G3-A3CJ-01A-11D-A20W-10 TCGA-G3-A3CJ-10A-01D-A20W-10 g.chr7:74202414delG c.887delG c.(886-888)cggfs p.R296fs LUAD 7 74191693 74191693 + Splice_Site SNP T T A TCGA-95-7039-01A-11D-1945-08 TCGA-95-7039-10A-01D-1946-08 g.chr7:74191693T>A c.153T>A c.(151-153)caT>caA p.H51Q LUAD 7 74193606 74193606 + Missense_Mutation SNP C C A TCGA-49-4514-01A-21D-1855-08 TCGA-49-4514-11A-01D-1855-08 g.chr7:74193606C>A c.233C>A c.(232-234)cCc>cAc p.P78H LUAD 7 74197867 74197867 + Splice_Site SNP G G A TCGA-53-A4EZ-01A-12D-A24P-08 TCGA-53-A4EZ-10A-01D-A24P-08 g.chr7:74197867G>A c.e7-1 LUAD 7 74197923 74197923 + Silent SNP C C T TCGA-69-7765-01A-11D-2167-08 TCGA-69-7765-10A-01D-2167-08 g.chr7:74197923C>T c.630C>T c.(628-630)ctC>ctT p.L210L LUSC 7 74197370 74197370 + Silent SNP G G A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr7:74197370G>A c.540G>A c.(538-540)ggG>ggA p.G180G PRAD 7 74202414 74202414 + Frame_Shift_Del DEL G G - TCGA-KK-A59V-01A-11D-A29Q-08 TCGA-KK-A59V-11A-11D-A29Q-08 g.chr7:74202414delG c.887delG c.(886-888)cggfs p.R296fs SARC 7 74197917 74197917 + Silent SNP C C T TCGA-QQ-A8VG-01A-11D-A37C-09 TCGA-QQ-A8VG-10A-01D-A37F-09 g.chr7:74197917C>T c.624C>T c.(622-624)tcC>tcT p.S208S SKCM 7 74193755 74193755 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr7:74193755C>T c.382C>T c.(382-384)Ccc>Tcc p.P128S SKCM 7 74197909 74197909 + Missense_Mutation SNP C C T TCGA-ER-A19W-06A-41D-A23B-08 TCGA-ER-A19W-10A-01D-A23B-08 g.chr7:74197909C>T c.616C>T c.(616-618)Cca>Tca p.P206S SKCM 7 74197924 74197924 + Missense_Mutation SNP G G A TCGA-EE-A3JH-06A-11D-A21A-08 TCGA-EE-A3JH-10A-01D-A21A-08 g.chr7:74197924G>A c.631G>A c.(631-633)Gag>Aag p.E211K

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 74203444 74203444 single base substitution C A downstream_gene_variant BLCA-CN 7 74203444 74203444 single base substitution C A exon_variant BLCA-CN 7 74203444 74203444 single base substitution C A synonymous_variant A371A 1113C>A BRCA-EU 7 74183872 74183872 single base substitution A T upstream_gene_variant BRCA-EU 7 74184278 74184278 single base substitution G A upstream_gene_variant BRCA-EU 7 74184299 74184299 single base substitution C T upstream_gene_variant BRCA-EU 7 74184315 74184315 single base substitution T G upstream_gene_variant BRCA-EU 7 74185035 74185035 single base substitution G C upstream_gene_variant BRCA-EU 7 74186596 74186596 single base substitution G C upstream_gene_variant BRCA-EU 7 74190244 74190244 single base substitution C A intron_variant BRCA-EU 7 74190244 74190244 single base substitution C A upstream_gene_variant BRCA-EU 7 74190338 74190338 single base substitution G A intron_variant BRCA-EU 7 74190338 74190338 single base substitution G A upstream_gene_variant BRCA-EU 7 74190583 74190583 single base substitution G A intron_variant BRCA-EU 7 74190583 74190583 single base substitution G A upstream_gene_variant BRCA-EU 7 74191208 74191208 single base substitution C A intron_variant BRCA-EU 7 74191208 74191208 single base substitution C A upstream_gene_variant BRCA-EU 7 74191221 74191221 single base substitution C A intron_variant BRCA-EU 7 74191221 74191221 single base substitution C A upstream_gene_variant BRCA-EU 7 74191901 74191901 single base substitution C T intron_variant BRCA-EU 7 74191901 74191901 single base substitution C T splice_region_variant BRCA-EU 7 74191901 74191901 single base substitution C T upstream_gene_variant BRCA-EU 7 74191984 74191984 single base substitution A G exon_variant BRCA-EU 7 74191984 74191984 single base substitution A G intron_variant BRCA-EU 7 74191984 74191984 single base substitution A G upstream_gene_variant BRCA-EU 7 74200062 74200062 single base substitution C G downstream_gene_variant BRCA-EU 7 74200062 74200062 single base substitution C G intron_variant BRCA-EU 7 74200411 74200411 single base substitution C G downstream_gene_variant BRCA-EU 7 74200411 74200411 single base substitution C G intron_variant BRCA-EU 7 74200508 74200508 single base substitution G T downstream_gene_variant BRCA-EU 7 74200508 74200508 single base substitution G T intron_variant BRCA-EU 7 74200804 74200804 single base substitution A G downstream_gene_variant BRCA-EU 7 74200804 74200804 single base substitution A G intron_variant BRCA-EU 7 74200921 74200921 single base substitution A G downstream_gene_variant BRCA-EU 7 74200921 74200921 single base substitution A G intron_variant BRCA-EU 7 74200990 74200990 single base substitution T A downstream_gene_variant BRCA-EU 7 74200990 74200990 single base substitution T A intron_variant BRCA-EU 7 74201376 74201376 single base substitution C T downstream_gene_variant BRCA-EU 7 74201376 74201376 single base substitution C T intron_variant BRCA-EU 7 74202933 74202933 single base substitution C T downstream_gene_variant BRCA-EU 7 74202933 74202933 single base substitution C T exon_variant BRCA-EU 7 74202933 74202933 single base substitution C T synonymous_variant H312H 936C>T BRCA-EU 7 74203144 74203144 single base substitution A G downstream_gene_variant BRCA-EU 7 74203144 74203144 single base substitution A G intron_variant BRCA-EU 7 74204867 74204867 single base substitution G A downstream_gene_variant BRCA-EU 7 74205382 74205382 single base substitution C T downstream_gene_variant BRCA-EU 7 74206490 74206490 single base substitution C A downstream_gene_variant BRCA-FR 7 74191491 74191491 single base substitution C T intron_variant BRCA-FR 7 74191491 74191491 single base substitution C T upstream_gene_variant BRCA-FR 7 74191990 74191990 single base substitution G A exon_variant BRCA-FR 7 74191990 74191990 single base substitution G A intron_variant BRCA-FR 7 74191990 74191990 single base substitution G A upstream_gene_variant BRCA-KR 7 74193668 74193668 single base substitution G A exon_variant BRCA-KR 7 74193668 74193668 single base substitution G A intron_variant BRCA-KR 7 74193668 74193668 single base substitution G A missense_variant G106S 316G>A BRCA-KR 7 74193668 74193668 single base substitution G A missense_variant G99S 295G>A BRCA-KR 7 74193668 74193668 single base substitution G A upstream_gene_variant BRCA-KR 7 74193718 74193718 single base substitution C T exon_variant BRCA-KR 7 74193718 74193718 single base substitution C T intron_variant BRCA-KR 7 74193718 74193718 single base substitution C T synonymous_variant L115L 345C>T BRCA-KR 7 74193718 74193718 single base substitution C T synonymous_variant L122L 366C>T BRCA-KR 7 74193718 74193718 single base substitution C T upstream_gene_variant BRCA-UK 7 74191208 74191208 single base substitution C A intron_variant BRCA-UK 7 74191208 74191208 single base substitution C A upstream_gene_variant BRCA-UK 7 74191221 74191221 single base substitution C A intron_variant BRCA-UK 7 74191221 74191221 single base substitution C A upstream_gene_variant BRCA-UK 7 74191901 74191901 single base substitution C T intron_variant BRCA-UK 7 74191901 74191901 single base substitution C T splice_region_variant BRCA-UK 7 74191901 74191901 single base substitution C T upstream_gene_variant BRCA-UK 7 74198836 74198836 single base substitution C A downstream_gene_variant BRCA-UK 7 74198836 74198836 single base substitution C A intron_variant BRCA-UK 7 74200508 74200508 single base substitution G T downstream_gene_variant BRCA-UK 7 74200508 74200508 single base substitution G T intron_variant BRCA-UK 7 74200847 74200847 single base substitution C T downstream_gene_variant BRCA-UK 7 74200847 74200847 single base substitution C T intron_variant BRCA-UK 7 74200990 74200990 single base substitution T A downstream_gene_variant BRCA-UK 7 74200990 74200990 single base substitution T A intron_variant BRCA-US 7 74193727 74193727 single base substitution C G exon_variant BRCA-US 7 74193727 74193727 single base substitution C G intron_variant BRCA-US 7 74193727 74193727 single base substitution C G missense_variant F118L 354C>G BRCA-US 7 74193727 74193727 single base substitution C G missense_variant F125L 375C>G BRCA-US 7 74193727 74193727 single base substitution C G upstream_gene_variant BRCA-US 7 74202954 74202954 single base substitution C T downstream_gene_variant BRCA-US 7 74202954 74202954 single base substitution C T exon_variant BRCA-US 7 74202954 74202954 single base substitution C T synonymous_variant L319L 957C>T CESC-US 7 74191962 74191962 single base substitution G A exon_variant CESC-US 7 74191962 74191962 single base substitution G A intron_variant CESC-US 7 74191962 74191962 single base substitution G A upstream_gene_variant CESC-US 7 74203029 74203029 single base substitution G A downstream_gene_variant CESC-US 7 74203029 74203029 single base substitution G A exon_variant CESC-US 7 74203029 74203029 single base substitution G A synonymous_variant Q344Q 1032G>A COAD-US 7 74195135 74195135 single base substitution G T exon_variant COAD-US 7 74195135 74195135 single base substitution G T missense_variant A159S 475G>T COAD-US 7 74195135 74195135 single base substitution G T missense_variant K135N 405G>T COAD-US 7 74195135 74195135 single base substitution G T missense_variant K142N 426G>T COAD-US 7 74195135 74195135 single base substitution G T upstream_gene_variant COAD-US 7 74202413 74202413 insertion of <=200bp - G downstream_gene_variant COAD-US 7 74202413 74202413 insertion of <=200bp - G exon_variant COAD-US 7 74202413 74202413 insertion of <=200bp - G frameshift_variant R296A? COCA-CN 7 74193642 74193642 single base substitution G A exon_variant COCA-CN 7 74193642 74193642 single base substitution G A intron_variant COCA-CN 7 74193642 74193642 single base substitution G A missense_variant R90H 269G>A COCA-CN 7 74193642 74193642 single base substitution G A missense_variant R97H 290G>A COCA-CN 7 74193642 74193642 single base substitution G A upstream_gene_variant ESCA-CN 7 74193649 74193649 single base substitution C G exon_variant ESCA-CN 7 74193649 74193649 single base substitution C G intron_variant ESCA-CN 7 74193649 74193649 single base substitution C G synonymous_variant G92G 276C>G ESCA-CN 7 74193649 74193649 single base substitution C G synonymous_variant G99G 297C>G ESCA-CN 7 74193649 74193649 single base substitution C G upstream_gene_variant GBM-US 7 74193497 74193497 single base substitution C T exon_variant GBM-US 7 74193497 74193497 single base substitution C T intron_variant GBM-US 7 74193497 74193497 single base substitution C T missense_variant L75F 223C>T GBM-US 7 74193497 74193497 single base substitution C T missense_variant L82F 244C>T GBM-US 7 74193497 74193497 single base substitution C T upstream_gene_variant KIRC-US 7 74191683 74191683 single base substitution A G exon_variant KIRC-US 7 74191683 74191683 single base substitution A G missense_variant Y24C 71A>G KIRC-US 7 74191683 74191683 single base substitution A G missense_variant Y48C 143A>G KIRC-US 7 74191683 74191683 single base substitution A G upstream_gene_variant LAML-KR 7 74194462 74194462 single base substitution A G intron_variant LAML-KR 7 74194462 74194462 single base substitution A G upstream_gene_variant LAML-KR 7 74204082 74204082 single base substitution C T downstream_gene_variant LAML-KR 7 74208310 74208310 single base substitution C G downstream_gene_variant LGG-US 7 74203029 74203029 single base substitution G A downstream_gene_variant LGG-US 7 74203029 74203029 single base substitution G A exon_variant LGG-US 7 74203029 74203029 single base substitution G A synonymous_variant Q344Q 1032G>A LICA-CN 7 74193735 74193735 single base substitution G T exon_variant LICA-CN 7 74193735 74193735 single base substitution G T intron_variant LICA-CN 7 74193735 74193735 single base substitution G T missense_variant R121L 362G>T LICA-CN 7 74193735 74193735 single base substitution G T missense_variant R128L 383G>T LICA-CN 7 74193735 74193735 single base substitution G T upstream_gene_variant LICA-FR 7 74196100 74196100 single base substitution G A downstream_gene_variant LICA-FR 7 74196100 74196100 single base substitution G A intron_variant LICA-FR 7 74196100 74196100 single base substitution G A upstream_gene_variant LICA-FR 7 74206234 74206234 single base substitution T A downstream_gene_variant LIRI-JP 7 74196353 74196353 single base substitution T A downstream_gene_variant LIRI-JP 7 74196353 74196353 single base substitution T A intron_variant LIRI-JP 7 74196353 74196353 single base substitution T A upstream_gene_variant LIRI-JP 7 74198134 74198134 single base substitution T C downstream_gene_variant LIRI-JP 7 74198134 74198134 single base substitution T C intron_variant LUSC-KR 7 74184009 74184009 single base substitution C A upstream_gene_variant LUSC-KR 7 74192941 74192941 single base substitution G A intron_variant LUSC-KR 7 74192941 74192941 single base substitution G A upstream_gene_variant LUSC-KR 7 74194037 74194037 single base substitution C T intron_variant LUSC-KR 7 74194037 74194037 single base substitution C T upstream_gene_variant LUSC-KR 7 74197126 74197126 single base substitution A T downstream_gene_variant LUSC-KR 7 74197126 74197126 single base substitution A T intron_variant LUSC-KR 7 74197126 74197126 single base substitution A T upstream_gene_variant LUSC-KR 7 74198617 74198617 single base substitution G T downstream_gene_variant LUSC-KR 7 74198617 74198617 single base substitution G T intron_variant LUSC-KR 7 74199395 74199395 single base substitution G C downstream_gene_variant LUSC-KR 7 74199395 74199395 single base substitution G C intron_variant LUSC-KR 7 74201276 74201276 single base substitution C T downstream_gene_variant LUSC-KR 7 74201276 74201276 single base substitution C T intron_variant LUSC-KR 7 74204338 74204338 single base substitution C T downstream_gene_variant LUSC-US 7 74197370 74197370 single base substitution G A downstream_gene_variant LUSC-US 7 74197370 74197370 single base substitution G A exon_variant LUSC-US 7 74197370 74197370 single base substitution G A synonymous_variant G180G 540G>A LUSC-US 7 74197370 74197370 single base substitution G A upstream_gene_variant MALY-DE 7 74191613 74191614 deletion of <=200bp GT - frameshift_variant V1 MALY-DE 7 74191613 74191614 deletion of <=200bp GT - frameshift_variant V25 MALY-DE 7 74191613 74191614 deletion of <=200bp GT - splice_region_variant MALY-DE 7 74191613 74191614 deletion of <=200bp GT - upstream_gene_variant MELA-AU 7 74183875 74183875 single base substitution A T upstream_gene_variant MELA-AU 7 74185519 74185519 single base substitution G A upstream_gene_variant MELA-AU 7 74185561 74185561 single base substitution G A upstream_gene_variant MELA-AU 7 74186039 74186039 single base substitution A G upstream_gene_variant MELA-AU 7 74187480 74187480 single base substitution G A upstream_gene_variant MELA-AU 7 74187590 74187590 single base substitution C T upstream_gene_variant MELA-AU 7 74187761 74187761 single base substitution C T upstream_gene_variant MELA-AU 7 74190199 74190199 single base substitution G A intron_variant MELA-AU 7 74190199 74190199 single base substitution G A upstream_gene_variant MELA-AU 7 74191466 74191466 single base substitution T G intron_variant MELA-AU 7 74191466 74191466 single base substitution T G upstream_gene_variant MELA-AU 7 74191676 74191676 single base substitution G A exon_variant MELA-AU 7 74191676 74191676 single base substitution G A missense_variant E22K 64G>A MELA-AU 7 74191676 74191676 single base substitution G A missense_variant E46K 136G>A MELA-AU 7 74191676 74191676 single base substitution G A upstream_gene_variant MELA-AU 7 74191963 74191963 single base substitution G A exon_variant MELA-AU 7 74191963 74191963 single base substitution G A intron_variant MELA-AU 7 74191963 74191963 single base substitution G A upstream_gene_variant MELA-AU 7 74191965 74191965 single base substitution C G exon_variant MELA-AU 7 74191965 74191965 single base substitution C G intron_variant MELA-AU 7 74191965 74191965 single base substitution C G upstream_gene_variant MELA-AU 7 74192737 74192737 single base substitution G A intron_variant MELA-AU 7 74192737 74192737 single base substitution G A missense_variant G56R 166G>A MELA-AU 7 74192737 74192737 single base substitution G A upstream_gene_variant MELA-AU 7 74192970 74192970 single base substitution G A intron_variant MELA-AU 7 74192970 74192970 single base substitution G A upstream_gene_variant MELA-AU 7 74193120 74193120 single base substitution A C intron_variant MELA-AU 7 74193120 74193120 single base substitution A C upstream_gene_variant MELA-AU 7 74193699 74193699 single base substitution C T exon_variant MELA-AU 7 74193699 74193699 single base substitution C T intron_variant MELA-AU 7 74193699 74193699 single base substitution C T missense_variant S109F 326C>T MELA-AU 7 74193699 74193699 single base substitution C T missense_variant S116F 347C>T MELA-AU 7 74193699 74193699 single base substitution C T upstream_gene_variant MELA-AU 7 74193798 74193798 single base substitution G A intron_variant MELA-AU 7 74193798 74193798 single base substitution G A upstream_gene_variant MELA-AU 7 74197023 74197023 single base substitution G A downstream_gene_variant MELA-AU 7 74197023 74197023 single base substitution G A intron_variant MELA-AU 7 74197023 74197023 single base substitution G A upstream_gene_variant MELA-AU 7 74197469 74197469 single base substitution C T downstream_gene_variant MELA-AU 7 74197469 74197469 single base substitution C T exon_variant MELA-AU 7 74197469 74197469 single base substitution C T intron_variant MELA-AU 7 74197469 74197469 single base substitution C T upstream_gene_variant MELA-AU 7 74198091 74198091 single base substitution G A downstream_gene_variant MELA-AU 7 74198091 74198091 single base substitution G A intron_variant MELA-AU 7 74198158 74198158 single base substitution G A downstream_gene_variant MELA-AU 7 74198158 74198158 single base substitution G A intron_variant MELA-AU 7 74198168 74198168 single base substitution G A downstream_gene_variant MELA-AU 7 74198168 74198168 single base substitution G A intron_variant MELA-AU 7 74198754 74198754 single base substitution T G downstream_gene_variant MELA-AU 7 74198754 74198754 single base substitution T G intron_variant MELA-AU 7 74198984 74198984 single base substitution G A downstream_gene_variant MELA-AU 7 74198984 74198984 single base substitution G A intron_variant MELA-AU 7 74199034 74199034 single base substitution G A downstream_gene_variant MELA-AU 7 74199034 74199034 single base substitution G A intron_variant MELA-AU 7 74199134 74199134 single base substitution C T downstream_gene_variant MELA-AU 7 74199134 74199134 single base substitution C T intron_variant MELA-AU 7 74199147 74199147 single base substitution A G downstream_gene_variant MELA-AU 7 74199147 74199147 single base substitution A G intron_variant MELA-AU 7 74199794 74199794 single base substitution G A downstream_gene_variant MELA-AU 7 74199794 74199794 single base substitution G A exon_variant MELA-AU 7 74199794 74199794 single base substitution G A intron_variant MELA-AU 7 74200155 74200155 single base substitution G A downstream_gene_variant MELA-AU 7 74200155 74200155 single base substitution G A intron_variant MELA-AU 7 74200183 74200183 single base substitution C T downstream_gene_variant MELA-AU 7 74200183 74200183 single base substitution C T intron_variant MELA-AU 7 74200586 74200586 single base substitution A G downstream_gene_variant MELA-AU 7 74200586 74200586 single base substitution A G intron_variant MELA-AU 7 74201937 74201937 single base substitution G A downstream_gene_variant MELA-AU 7 74201937 74201937 single base substitution G A intron_variant MELA-AU 7 74203180 74203180 single base substitution G A downstream_gene_variant MELA-AU 7 74203180 74203180 single base substitution G A intron_variant MELA-AU 7 74203182 74203182 single base substitution G A downstream_gene_variant MELA-AU 7 74203182 74203182 single base substitution G A intron_variant MELA-AU 7 74203188 74203188 single base substitution G A downstream_gene_variant MELA-AU 7 74203188 74203188 single base substitution G A intron_variant MELA-AU 7 74203192 74203192 single base substitution G A downstream_gene_variant MELA-AU 7 74203192 74203192 single base substitution G A intron_variant MELA-AU 7 74203198 74203198 single base substitution G A downstream_gene_variant MELA-AU 7 74203198 74203198 single base substitution G A intron_variant MELA-AU 7 74203212 74203212 single base substitution G A downstream_gene_variant MELA-AU 7 74203212 74203212 single base substitution G A intron_variant MELA-AU 7 74203226 74203226 single base substitution C T downstream_gene_variant MELA-AU 7 74203226 74203226 single base substitution C T intron_variant MELA-AU 7 74203230 74203230 single base substitution G A downstream_gene_variant MELA-AU 7 74203230 74203230 single base substitution G A intron_variant MELA-AU 7 74205069 74205069 single base substitution C A downstream_gene_variant MELA-AU 7 74205158 74205158 single base substitution C T downstream_gene_variant MELA-AU 7 74206418 74206418 single base substitution T A downstream_gene_variant OV-AU 7 74198078 74198078 single base substitution G A downstream_gene_variant OV-AU 7 74198078 74198078 single base substitution G A intron_variant OV-AU 7 74200538 74200538 single base substitution C T downstream_gene_variant OV-AU 7 74200538 74200538 single base substitution C T intron_variant OV-AU 7 74208509 74208509 single base substitution C A downstream_gene_variant PACA-AU 7 74191648 74191648 single base substitution G A exon_variant PACA-AU 7 74191648 74191648 single base substitution G A synonymous_variant S12S 36G>A PACA-AU 7 74191648 74191648 single base substitution G A synonymous_variant S36S 108G>A PACA-AU 7 74191648 74191648 single base substitution G A upstream_gene_variant PACA-AU 7 74198770 74198770 single base substitution T G downstream_gene_variant PACA-AU 7 74198770 74198770 single base substitution T G intron_variant PACA-CA 7 74186506 74186506 single base substitution G T upstream_gene_variant PACA-CA 7 74190338 74190338 single base substitution G A intron_variant PACA-CA 7 74190338 74190338 single base substitution G A upstream_gene_variant PACA-CA 7 74198113 74198113 single base substitution G T downstream_gene_variant PACA-CA 7 74198113 74198113 single base substitution G T intron_variant PACA-CA 7 74199143 74199143 single base substitution A T downstream_gene_variant PACA-CA 7 74199143 74199143 single base substitution A T intron_variant PACA-CA 7 74200153 74200153 single base substitution C T downstream_gene_variant PACA-CA 7 74200153 74200153 single base substitution C T intron_variant PRAD-UK 7 74184278 74184278 single base substitution G A upstream_gene_variant PRAD-UK 7 74184878 74184878 insertion of <=200bp - TTTATTTTAT upstream_gene_variant PRAD-UK 7 74184879 74184879 insertion of <=200bp - TTTATTTTAT upstream_gene_variant PRAD-UK 7 74190436 74190436 single base substitution G T intron_variant PRAD-UK 7 74190436 74190436 single base substitution G T upstream_gene_variant PRAD-UK 7 74191760 74191760 single base substitution A G exon_variant PRAD-UK 7 74191760 74191760 single base substitution A G intron_variant PRAD-UK 7 74191760 74191760 single base substitution A G upstream_gene_variant PRAD-UK 7 74197403 74197403 single base substitution C T downstream_gene_variant PRAD-UK 7 74197403 74197403 single base substitution C T exon_variant PRAD-UK 7 74197403 74197403 single base substitution C T splice_region_variant PRAD-UK 7 74197403 74197403 single base substitution C T upstream_gene_variant PRAD-US 7 74202414 74202414 deletion of <=200bp G - downstream_gene_variant PRAD-US 7 74202414 74202414 deletion of <=200bp G - exon_variant PRAD-US 7 74202414 74202414 deletion of <=200bp G - frameshift_variant R296 READ-US 7 74191685 74191685 single base substitution G A exon_variant READ-US 7 74191685 74191685 single base substitution G A missense_variant E25K 73G>A READ-US 7 74191685 74191685 single base substitution G A missense_variant E49K 145G>A READ-US 7 74191685 74191685 single base substitution G A upstream_gene_variant SKCA-BR 7 74183879 74183881 deletion of <=200bp AAT - upstream_gene_variant SKCA-BR 7 74187381 74187382 deletion of <=200bp TA - upstream_gene_variant SKCA-BR 7 74190295 74190295 insertion of <=200bp - CT intron_variant SKCA-BR 7 74190295 74190295 insertion of <=200bp - CT upstream_gene_variant SKCA-BR 7 74190385 74190385 single base substitution T C intron_variant SKCA-BR 7 74190385 74190385 single base substitution T C upstream_gene_variant SKCA-BR 7 74191763 74191763 single base substitution C T exon_variant SKCA-BR 7 74191763 74191763 single base substitution C T intron_variant SKCA-BR 7 74191763 74191763 single base substitution C T upstream_gene_variant SKCA-BR 7 74192999 74192999 single base substitution G A intron_variant SKCA-BR 7 74192999 74192999 single base substitution G A upstream_gene_variant SKCA-BR 7 74194394 74194394 single base substitution C T intron_variant SKCA-BR 7 74194394 74194394 single base substitution C T upstream_gene_variant SKCA-BR 7 74194449 74194449 single base substitution G A intron_variant SKCA-BR 7 74194449 74194449 single base substitution G A upstream_gene_variant SKCA-BR 7 74196693 74196693 single base substitution T G downstream_gene_variant SKCA-BR 7 74196693 74196693 single base substitution T G intron_variant SKCA-BR 7 74196693 74196693 single base substitution T G upstream_gene_variant SKCA-BR 7 74196879 74196879 single base substitution G A downstream_gene_variant SKCA-BR 7 74196879 74196879 single base substitution G A intron_variant SKCA-BR 7 74196879 74196879 single base substitution G A upstream_gene_variant SKCA-BR 7 74199033 74199033 single base substitution G A downstream_gene_variant SKCA-BR 7 74199033 74199033 single base substitution G A intron_variant SKCA-BR 7 74200578 74200579 deletion of <=200bp CA - downstream_gene_variant SKCA-BR 7 74200578 74200579 deletion of <=200bp CA - intron_variant SKCA-BR 7 74201140 74201140 single base substitution G A downstream_gene_variant SKCA-BR 7 74201140 74201140 single base substitution G A intron_variant SKCA-BR 7 74201148 74201148 single base substitution G A downstream_gene_variant SKCA-BR 7 74201148 74201148 single base substitution G A intron_variant SKCA-BR 7 74204082 74204082 single base substitution C T downstream_gene_variant SKCA-BR 7 74205872 74205872 single base substitution G A downstream_gene_variant SKCA-BR 7 74206406 74206409 deletion of <=200bp TTTC - downstream_gene_variant SKCM-US 7 74193755 74193755 single base substitution C T exon_variant SKCM-US 7 74193755 74193755 single base substitution C T intron_variant SKCM-US 7 74193755 74193755 single base substitution C T missense_variant P128S 382C>T SKCM-US 7 74193755 74193755 single base substitution C T missense_variant P135S 403C>T SKCM-US 7 74193755 74193755 single base substitution C T upstream_gene_variant SKCM-US 7 74197909 74197909 single base substitution C T downstream_gene_variant SKCM-US 7 74197909 74197909 single base substitution C T exon_variant SKCM-US 7 74197909 74197909 single base substitution C T missense_variant P206S 616C>T SKCM-US 7 74197924 74197924 single base substitution G A downstream_gene_variant SKCM-US 7 74197924 74197924 single base substitution G A exon_variant SKCM-US 7 74197924 74197924 single base substitution G A missense_variant E211K 631G>A STAD-US 7 74191648 74191648 single base substitution G A exon_variant STAD-US 7 74191648 74191648 single base substitution G A synonymous_variant S12S 36G>A STAD-US 7 74191648 74191648 single base substitution G A synonymous_variant S36S 108G>A STAD-US 7 74191648 74191648 single base substitution G A upstream_gene_variant STAD-US 7 74193722 74193722 single base substitution T G exon_variant STAD-US 7 74193722 74193722 single base substitution T G intron_variant STAD-US 7 74193722 74193722 single base substitution T G missense_variant F117V 349T>G STAD-US 7 74193722 74193722 single base substitution T G missense_variant F124V 370T>G STAD-US 7 74193722 74193722 single base substitution T G upstream_gene_variant STAD-US 7 74193734 74193734 single base substitution C T exon_variant STAD-US 7 74193734 74193734 single base substitution C T intron_variant STAD-US 7 74193734 74193734 single base substitution C T missense_variant R121C 361C>T STAD-US 7 74193734 74193734 single base substitution C T missense_variant R128C 382C>T STAD-US 7 74193734 74193734 single base substitution C T upstream_gene_variant STAD-US 7 74197373 74197373 single base substitution C T downstream_gene_variant STAD-US 7 74197373 74197373 single base substitution C T exon_variant STAD-US 7 74197373 74197373 single base substitution C T synonymous_variant D181D 543C>T STAD-US 7 74197373 74197373 single base substitution C T upstream_gene_variant STAD-US 7 74197385 74197385 single base substitution C T downstream_gene_variant STAD-US 7 74197385 74197385 single base substitution C T exon_variant STAD-US 7 74197385 74197385 single base substitution C T synonymous_variant V185V 555C>T STAD-US 7 74197385 74197385 single base substitution C T upstream_gene_variant STAD-US 7 74197927 74197927 single base substitution C A downstream_gene_variant STAD-US 7 74197927 74197927 single base substitution C A exon_variant STAD-US 7 74197927 74197927 single base substitution C A missense_variant P212T 634C>A UCEC-US 7 74197281 74197281 single base substitution G T downstream_gene_variant UCEC-US 7 74197281 74197281 single base substitution G T splice_acceptor_variant UCEC-US 7 74197281 74197281 single base substitution G T upstream_gene_variant UCEC-US 7 74197317 74197317 single base substitution G A downstream_gene_variant UCEC-US 7 74197317 74197317 single base substitution G A exon_variant UCEC-US 7 74197317 74197317 single base substitution G A missense_variant A163T 487G>A UCEC-US 7 74197317 74197317 single base substitution G A missense_variant R186H 557G>A UCEC-US 7 74197317 74197317 single base substitution G A upstream_gene_variant UCEC-US 7 74197397 74197397 single base substitution C T downstream_gene_variant UCEC-US 7 74197397 74197397 single base substitution C T exon_variant UCEC-US 7 74197397 74197397 single base substitution C T synonymous_variant S189S 567C>T UCEC-US 7 74197397 74197397 single base substitution C T upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-AA-3510-01 COSM1452049 c.405G>T p.K135N Substitution - Missense 7:74780789-74780789 + TCGA-EE-A3JH-06 COSM3640528 c.631G>A p.E211K Substitution - Missense 7:74783581-74783581 + TCGA-AX-A0J1-01 COSM1091689 c.487G>A p.A163T Substitution - Missense 7:74782974-74782974 + TCGA-GF-A6C9-06 COSM4901769 c.382C>T p.P128S Substitution - Missense 7:74779409-74779409 + Pat_27_B COSM5873071 c.240G>A p.W80* Substitution - Nonsense 7:74779267-74779267 + BICR_22 COSM4162428 c.295G>A p.G99S Substitution - Missense TCGA-HU-A4GN-01 COSM3882374 c.555C>T p.V185V Substitution - coding silent 7:74783042-74783042 + WSU-HN30 COSM4599494 c.269G>A p.R90H Substitution - Missense 7:74779296-74779296 + WSU-HN12 COSM4599494 c.269G>A p.R90H Substitution - Missense 7:74779296-74779296 + TCGA-18-3409-01 COSM747125 c.540G>A p.G180G Substitution - coding silent 7:74783027-74783027 + Pat_14_B COSM5873073 c.1046C>G p.P349R Substitution - Missense 7:74788699-74788699 + TCGA-DU-A5TW-01 COSM3929180 c.1032G>A p.Q344Q Substitution - coding silent 7:74788685-74788685 + WSU-HN8 COSM4599494 c.269G>A p.R90H Substitution - Missense 7:74779296-74779296 + KPOPBR-30-T COSM1091687 c.345C>T p.L115L Substitution - coding silent 7:74779372-74779372 + LUAD_E00623 COSM354594 c.367G>A p.D123N Substitution - Missense 7:74779394-74779394 + B62-0-Tumor COSM4006763 c.1113C>A p.A371A Substitution - coding silent 7:74789100-74789100 + SCC-15 COSM4162428 c.295G>A p.G99S Substitution - Missense WSU-HN8 COSM4162428 c.295G>A p.G99S Substitution - Missense UPCI:SCC090 COSM4162428 c.295G>A p.G99S Substitution - Missense Detroit_562 COSM4162428 c.295G>A p.G99S Substitution - Missense TCGA-BH-A0B6-01 COSM3833228 c.957C>T p.L319L Substitution - coding silent 7:74788610-74788610 + CLL153 COSM1292545 c.646C>T p.P216S Substitution - Missense 7:74783596-74783596 + CSCC-31-T COSM4544540 c.358G>A p.V120M Substitution - Missense 7:74779385-74779385 + WSU-HN13 COSM4162428 c.295G>A p.G99S Substitution - Missense NOKSI COSM4596259 c.805G>A p.D269N Substitution - Missense 7:74787988-74787988 + TCGA-14-1829-01 COSM3412289 c.223C>T p.L75F Substitution - Missense 7:74779151-74779151 + ESO-S41 COSM1258805 c.237G>A p.K79K Substitution - coding silent 7:74779264-74779264 + UM-SCC-17B COSM4162428 c.295G>A p.G99S Substitution - Missense UM-SCC-2 COSM4599494 c.269G>A p.R90H Substitution - Missense 7:74779296-74779296 + UM-SCC-2 COSM4162428 c.295G>A p.G99S Substitution - Missense CAL27 COSM4162428 c.295G>A p.G99S Substitution - Missense TCGA-A8-A09I-01 COSM453378 c.354C>G p.F118L Substitution - Missense 7:74779381-74779381 + UD-SCC-2 COSM4162428 c.295G>A p.G99S Substitution - Missense TCGA-D7-A4YV-01 COSM3882373 c.543C>T p.D181D Substitution - coding silent 7:74783030-74783030 + TCGA-HU-A4GD-01 COSM3882375 c.634C>A p.P212T Substitution - Missense 7:74783584-74783584 + ESO-408 COSM1258804 c.108G>A p.S36S Substitution - coding silent 7:74777302-74777302 + BHY COSM4162428 c.295G>A p.G99S Substitution - Missense ESO-175 COSM1258803 c.253C>T p.R85W Substitution - Missense 7:74779280-74779280 + TCGA-BK-A0CC-01 COSM1091687 c.345C>T p.L115L Substitution - coding silent 7:74779372-74779372 + SCC-9 COSM4162428 c.295G>A p.G99S Substitution - Missense SCC-25 COSM4162428 c.295G>A p.G99S Substitution - Missense PM-3 COSM5620028 c.860T>C p.V287A Substitution - Missense 7:74788043-74788043 + TCGA-BP-4770-01 COSM485557 c.143A>G p.Y48C Substitution - Missense 7:74777337-74777337 + ORL-48 COSM4162428 c.295G>A p.G99S Substitution - Missense 93VU147T COSM4162428 c.295G>A p.G99S Substitution - Missense TCGA-F5-6814-01 COSM3087919 c.145G>A p.E49K Substitution - Missense 7:74777339-74777339 + ESCC_BICR_051T COSM5444112 c.276C>G p.G92G Substitution - coding silent 7:74779303-74779303 + PTC-1C COSM3087932 c.480G>A p.T160T Substitution - coding silent 7:74782967-74782967 + Pat_26_A COSM5873072 c.259G>A p.A87T Substitution - Missense 7:74779286-74779286 + CSCC-41-T COSM4521201 c.109G>A p.E37K Substitution - Missense 7:74777303-74777303 + TCGA-AZ-6598-01 COSM1452050 c.886_887insG p.A298fs*63 Insertion - Frameshift 7:74788069-74788070 + cSCCP4 COSM138620 c.88G>A p.V30M Substitution - Missense 7:74777282-74777282 + TCGA-B5-A11H-01 COSM1091690 c.567C>T p.S189S Substitution - coding silent 7:74783054-74783054 + UM-SCC-4 COSM4599691 c.496A>G p.N166D Substitution - Missense 7:74782983-74782983 + T3021 COSM3882373 c.543C>T p.D181D Substitution - coding silent 7:74783030-74783030 + KPOPBR-30-T COSM4162428 c.295G>A p.G99S Substitution - Missense 0031_CRUK_PC_0031_T1_DNA COSM1091691 c.573C>T p.S191S Substitution - coding silent 7:74783060-74783060 + sysucc-1510T COSM4599494 c.269G>A p.R90H Substitution - Missense 7:74779296-74779296 + NOKSI COSM4162428 c.295G>A p.G99S Substitution - Missense Pat_14_A COSM5873073 c.1046C>G p.P349R Substitution - Missense 7:74788699-74788699 + WSU-HN30 COSM4162428 c.295G>A p.G99S Substitution - Missense UM-SCC-4 COSM4162428 c.295G>A p.G99S Substitution - Missense TCGA-F1-6874-01 COSM1258804 c.108G>A p.S36S Substitution - coding silent 7:74777302-74777302 + PTC-88C COSM4162428 c.295G>A p.G99S Substitution - Missense WSU-HN12 COSM4162428 c.295G>A p.G99S Substitution - Missense TCGA-B5-A0JY-01 COSM1091688 c.452-1G>T p.? Unknown 7:74782938-74782938 + UM-SCC-47 COSM4162428 c.295G>A p.G99S Substitution - Missense cSCCP1 COSM134213 c.326C>T p.S109F Substitution - Missense 7:74779353-74779353 + HCC109T COSM5816731 c.362G>T p.R121L Substitution - Missense 7:74779389-74779389 + LUAD_E00522 COSM353542 c.651C>T p.D217D Substitution - coding silent 7:74783601-74783601 + TARGET-30-PASMNT COSM108179 c.652G>A p.E218K Substitution - Missense 7:74783602-74783602 + Detroit_562 COSM1091687 c.345C>T p.L115L Substitution - coding silent 7:74779372-74779372 + CSCC-45-T COSM4450611 c.719delT p.V240fs*136 Deletion - Frameshift 7:74785218-74785218 + 8035834 COSM1258804 c.108G>A p.S36S Substitution - coding silent 7:74777302-74777302 + TCGA-CD-5801-01 COSM3882372 c.349T>G p.F117V Substitution - Missense 7:74779376-74779376 + UM-SCC-11B COSM4162428 c.295G>A p.G99S Substitution - Missense WSU-HN6 COSM4162428 c.295G>A p.G99S Substitution - Missense TCGA-BR-8678-01 COSM195953 c.361C>T p.R121C Substitution - Missense 7:74779388-74779388 + TCGA-C5-A2LX-01 COSM3929180 c.1032G>A p.Q344Q Substitution - coding silent 7:74788685-74788685 + TCGA-AX-A05S-01 COSM1091691 c.573C>T p.S191S Substitution - coding silent 7:74783060-74783060 + CAL33 COSM4162428 c.295G>A p.G99S Substitution - Missense TCGA-ER-A19W-06 COSM4398682 c.616C>T p.P206S Substitution - Missense 7:74783566-74783566 + CSCC-10-T COSM4589850 c.2_3insA p.? Unknown 7:74774033-74774034 + 22T COSM108179 c.652G>A p.E218K Substitution - Missense 7:74783602-74783602 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.647047 7q11.23 608512 2413095|CGAP|BC002816|C/T|coding|His312His|1005|Validated; 2413095|CGAP|BC065731|C/T|coding|His312His|961|Validated; 2462868|CGAP|BC002816|C/T|coding|Leu115Leu|414|Validated; 2462868|CGAP|BC065731|C/T|coding|Leu115Leu|370|Validated; 2486845|CGAP|BC002816|C/T|coding|Leu115Leu|414|Validated; 2486845|CGAP|BC065731|C/T|coding|Leu115Leu|370|Validated; 2486849|CGAP|BC002816|A/G|coding|Arg90His|338|Validated; 2486849|CGAP|BC065731|A/G|coding|Arg90His|294|Validated; 1509787|dbSNP|BC002816|C/T|coding|Phe275Phe|894|Validated; 1509787|dbSNP|BC065731|C/T|coding|Phe275Phe|850|Validated; 1509884|dbSNP|BC002816|C/T|coding|Ala308Val|992|Validated; 1509884|dbSNP|BC065731|C/T|coding|Ala308Val|948|Validated; 1510431|dbSNP|BC002816|C/T|non-coding||1297|Validated; 1510431|dbSNP|BC065731|C/T|non-coding||1253|Validated; 2424722|dbSNP|BC002816|A/G|coding|Thr129Thr|456|Candidate; 2424722|dbSNP|BC065731|A/G|coding|Thr129Thr|412|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.Y48C c.143A>G 7 74191683 RCCC C A Missense p.P78H c.233C>A 7 74193606 LUAD C G Missense p.F118L c.354C>G 7 74193727 BRCA C T IntronicSNV . c.574+31C>T 7 74197435 CM C T Missense p.L75F c.223C>T 7 74193497 GBM C T Missense p.P216S c.646C>T 7 74197939 CLL C T Missense p.R85W c.253C>T 7 74193626 ESCA C T Synonymous p.F28F c.84C>T 7 74191624 CM C T Synonymous p.L127L c.381C>T 7 74193754 CM C T Synonymous p.S189S c.567C>T 7 74197397 UCEC G A IntronicSNV . c.153+10G>A 7 74191703 CM G A Missense p.A163T c.487G>A 7 74197317 BRCA G A Missense p.E211K c.631G>A 7 74197924 CM G A Missense p.E218K c.652G>A 7 74197945 NB G A Synonymous p.K79K c.237G>A 7 74193610 ESCA G A Synonymous p.S36S c.108G>A 7 74191648 STAD G A Synonymous p.T179T c.537G>A 7 74197367 CM T G Missense p.F117V c.349T>G 7 74193722 STAD