Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 1 173839474 173839474 + Missense_Mutation SNP T T G TCGA-GV-A3QF-01A-31D-A22Z-08 TCGA-GV-A3QF-10A-01D-A22Z-08 g.chr1:173839474T>G c.111T>G c.(109-111)aaT>aaG p.N37K BLCA 1 173839578 173839578 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 g.chr1:173839578C>T c.215C>T c.(214-216)tCa>tTa p.S72L BLCA 1 173839952 173839952 + Nonsense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 g.chr1:173839952C>T c.589C>T c.(589-591)Cag>Tag p.Q197* BLCA 1 173839957 173839957 + Silent SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 g.chr1:173839957C>T c.594C>T c.(592-594)atC>atT p.I198I BLCA 1 173839997 173839997 + Missense_Mutation SNP C C G TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 g.chr1:173839997C>G c.634C>G c.(634-636)Ctt>Gtt p.L212V BLCA 1 173840114 173840114 + Missense_Mutation SNP G G C TCGA-4Z-AA7W-01A-11D-A391-08 TCGA-4Z-AA7W-10A-01D-A394-08 g.chr1:173840114G>C c.751G>C c.(751-753)Gag>Cag p.E251Q BRCA 1 173839766 173839766 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 g.chr1:173839766G>A c.403G>A c.(403-405)Gaa>Aaa p.E135K BRCA 1 173840037 173840037 + Missense_Mutation SNP G G A TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 g.chr1:173840037G>A c.674G>A c.(673-675)gGa>gAa p.G225E CESC 1 173839612 173839612 + Silent SNP C C G TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr1:173839612C>G c.249C>G c.(247-249)ctC>ctG p.L83L CESC 1 173839814 173839814 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 g.chr1:173839814G>A c.451G>A c.(451-453)Gag>Aag p.E151K CESC 1 173840150 173840150 + Missense_Mutation SNP G G C TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 g.chr1:173840150G>C c.787G>C c.(787-789)Gaa>Caa p.E263Q CESC 1 173840188 173840188 + Silent SNP G G T TCGA-C5-A1M6-01A-11D-A13W-08 TCGA-C5-A1M6-10A-01D-A13W-08 g.chr1:173840188G>T c.825G>T c.(823-825)gtG>gtT p.V275V CESC 1 173842618 173842618 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 g.chr1:173842618G>A c.937G>A c.(937-939)Ggc>Agc p.G313S CESC 1 173854952 173854952 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 g.chr1:173854952T>C c.1202T>C c.(1201-1203)tTc>tCc p.F401S COAD 1 173839883 173839883 + Missense_Mutation SNP C C T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr1:173839883C>T c.520C>T c.(520-522)Cgg>Tgg p.R174W COAD 1 173854937 173854938 + Frame_Shift_Ins INS - - G TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr1:173854937_173854938insG c.1187_1188insG c.(1186-1191)atggggfs p.MG396fs COAD 1 173855179 173855179 + Missense_Mutation SNP G G A TCGA-D5-5539-01A-01D-1650-10 TCGA-D5-5539-10A-01D-1650-10 g.chr1:173855179G>A c.1429G>A c.(1429-1431)Gag>Aag p.E477K COADREAD 1 173839883 173839883 + Missense_Mutation SNP C C T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr1:173839883C>T c.520C>T c.(520-522)Cgg>Tgg p.R174W COADREAD 1 173854937 173854938 + Frame_Shift_Ins INS - - G TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr1:173854937_173854938insG c.1187_1188insG c.(1186-1191)atggggfs p.MG396fs COADREAD 1 173855179 173855179 + Missense_Mutation SNP G G A TCGA-D5-5539-01A-01D-1650-10 TCGA-D5-5539-10A-01D-1650-10 g.chr1:173855179G>A c.1429G>A c.(1429-1431)Gag>Aag p.E477K DLBC 1 173839435 173839435 + Silent SNP G G A TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr1:173839435G>A c.72G>A c.(70-72)caG>caA p.Q24Q ESCA 1 173840126 173840126 + Missense_Mutation SNP G G C TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 g.chr1:173840126G>C c.763G>C c.(763-765)Ggg>Cgg p.G255R ESCA 1 173854791 173854791 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 g.chr1:173854791G>C c.1041G>C c.(1039-1041)atG>atC p.M347I GBM 1 173840057 173840057 + Missense_Mutation SNP C C T TCGA-28-5207-01A-01D-1486-08 TCGA-28-5207-10A-01D-1486-08 g.chr1:173840057C>T c.694C>T c.(694-696)Cgg>Tgg p.R232W GBMLGG 1 173840057 173840057 + Missense_Mutation SNP C C T TCGA-28-5207-01A-01D-1486-08 TCGA-28-5207-10A-01D-1486-08 g.chr1:173840057C>T c.694C>T c.(694-696)Cgg>Tgg p.R232W HNSC 1 173839375 173839375 + Silent SNP T T C TCGA-CX-7082-01A-11D-2012-08 TCGA-CX-7082-10A-01D-2013-08 g.chr1:173839375T>C c.12T>C c.(10-12)ggT>ggC p.G4G HNSC 1 173839393 173839393 + Missense_Mutation SNP G G T TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 g.chr1:173839393G>T c.30G>T c.(28-30)gaG>gaT p.E10D HNSC 1 173839605 173839605 + Missense_Mutation SNP A A G TCGA-CV-A45X-01A-21D-A25D-08 TCGA-CV-A45X-10A-01D-A25E-08 g.chr1:173839605A>G c.242A>G c.(241-243)gAa>gGa p.E81G HNSC 1 173840134 173840134 + Silent SNP G G A TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 g.chr1:173840134G>A c.771G>A c.(769-771)gaG>gaA p.E257E HNSC 1 173842693 173842693 + Missense_Mutation SNP C C A TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 g.chr1:173842693C>A c.1012C>A c.(1012-1014)Ccc>Acc p.P338T KIPAN 1 173839638 173839638 + Missense_Mutation SNP T T C TCGA-BQ-7062-01A-11D-1961-08 TCGA-BQ-7062-11A-01D-1961-08 g.chr1:173839638T>C c.275T>C c.(274-276)aTa>aCa p.I92T KIPAN 1 173854955 173854955 + Missense_Mutation SNP T T A TCGA-B0-4693-01A-01D-1361-10 TCGA-B0-4693-11A-01D-1361-10 g.chr1:173854955T>A c.1205T>A c.(1204-1206)gTc>gAc p.V402D KIPAN 1 173854993 173854993 + Missense_Mutation SNP C C A TCGA-CZ-5459-01A-01D-1501-10 TCGA-CZ-5459-11A-01D-1501-10 g.chr1:173854993C>A c.1243C>A c.(1243-1245)Cag>Aag p.Q415K KIRC 1 173854955 173854955 + Missense_Mutation SNP T T A TCGA-B0-4693-01A-01D-1361-10 TCGA-B0-4693-11A-01D-1361-10 g.chr1:173854955T>A c.1205T>A c.(1204-1206)gTc>gAc p.V402D KIRC 1 173854993 173854993 + Missense_Mutation SNP C C A TCGA-CZ-5459-01A-01D-1501-10 TCGA-CZ-5459-11A-01D-1501-10 g.chr1:173854993C>A c.1243C>A c.(1243-1245)Cag>Aag p.Q415K KIRP 1 173839638 173839638 + Missense_Mutation SNP T T C TCGA-BQ-7062-01A-11D-1961-08 TCGA-BQ-7062-11A-01D-1961-08 g.chr1:173839638T>C c.275T>C c.(274-276)aTa>aCa p.I92T LIHC 1 173839522 173839522 + Missense_Mutation SNP C C G TCGA-DD-AADO-01A-11D-A40R-10 TCGA-DD-AADO-10A-01D-A40U-10 g.chr1:173839522C>G c.159C>G c.(157-159)agC>agG p.S53R LIHC 1 173840092 173840092 + Silent SNP A A G TCGA-ZS-A9CF-01A-11D-A382-10 TCGA-ZS-A9CF-10A-01D-A385-10 g.chr1:173840092A>G c.729A>G c.(727-729)gtA>gtG p.V243V LIHC 1 173842760 173842760 + Intron SNP A A T TCGA-CC-A7IH-01A-11D-A33K-10 TCGA-CC-A7IH-10A-01D-A33K-10 g.chr1:173842760A>T LUAD 1 173840201 173840201 + Missense_Mutation SNP G G T TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 g.chr1:173840201G>T c.838G>T c.(838-840)Ggc>Tgc p.G280C LUAD 1 173842711 173842711 + Intron SNP A A G TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 g.chr1:173842711A>G LUSC 1 173839578 173839578 + Missense_Mutation SNP C C T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr1:173839578C>T c.215C>T c.(214-216)tCa>tTa p.S72L OV 1 173839515 173839515 + Missense_Mutation SNP C C A TCGA-61-1725-01A-01W-0639-09 TCGA-61-1725-11A-01W-0639-09 g.chr1:173839515C>A c.152C>A c.(151-153)gCt>gAt p.A51D OV 1 173842707 173842707 + Intron SNP A A G TCGA-36-2547-01A-01D-1526-09 TCGA-36-2547-10A-01D-1526-09 g.chr1:173842707A>G PRAD 1 173839439 173839439 + Missense_Mutation SNP C C T TCGA-CH-5788-01A-11D-1576-08 TCGA-CH-5788-10A-01D-1576-08 g.chr1:173839439C>T c.76C>T c.(76-78)Cgc>Tgc p.R26C SKCM 1 173839909 173839909 + Silent SNP G G A TCGA-EE-A2MQ-06A-11D-A197-08 TCGA-EE-A2MQ-10A-01D-A199-08 g.chr1:173839909G>A c.546G>A c.(544-546)ctG>ctA p.L182L SKCM 1 173842613 173842613 + Missense_Mutation SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 g.chr1:173842613C>T c.932C>T c.(931-933)cCc>cTc p.P311L

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation AML-US 1 173835717 173835717 insertion of <=200bp - AA upstream_gene_variant BLCA-US 1 173839474 173839474 single base substitution T G missense_variant N37K 111T>G BLCA-US 1 173839578 173839578 single base substitution C T missense_variant S72L 215C>T BLCA-US 1 173839952 173839952 single base substitution C T stop_gained Q197* 589C>T BLCA-US 1 173839957 173839957 single base substitution C T synonymous_variant I198I 594C>T BLCA-US 1 173839997 173839997 single base substitution C G missense_variant L212V 634C>G BRCA-EU 1 173832605 173832605 insertion of <=200bp - ATAC upstream_gene_variant BRCA-EU 1 173832825 173832825 single base substitution G A upstream_gene_variant BRCA-EU 1 173832956 173832956 single base substitution G A upstream_gene_variant BRCA-EU 1 173832988 173832988 single base substitution G C upstream_gene_variant BRCA-EU 1 173834238 173834263 deletion of <=200bp GAGGCAGGAGAATTCCTTGAACCTGG - upstream_gene_variant BRCA-EU 1 173834334 173834334 single base substitution A T upstream_gene_variant BRCA-EU 1 173835496 173835496 single base substitution C G upstream_gene_variant BRCA-EU 1 173835506 173835507 deletion of <=200bp TC - upstream_gene_variant BRCA-EU 1 173836091 173836091 single base substitution G C upstream_gene_variant BRCA-EU 1 173836239 173836240 deletion of <=200bp GT - upstream_gene_variant BRCA-EU 1 173836748 173836748 single base substitution G C upstream_gene_variant BRCA-EU 1 173836835 173836835 single base substitution C A upstream_gene_variant BRCA-EU 1 173837024 173837024 single base substitution C T upstream_gene_variant BRCA-EU 1 173837168 173837168 single base substitution G C upstream_gene_variant BRCA-EU 1 173837837 173837837 single base substitution C G intron_variant BRCA-EU 1 173837837 173837837 single base substitution C G upstream_gene_variant BRCA-EU 1 173837946 173837946 single base substitution C G intron_variant BRCA-EU 1 173837946 173837946 single base substitution C G upstream_gene_variant BRCA-EU 1 173838292 173838292 single base substitution T A intron_variant BRCA-EU 1 173838305 173838305 single base substitution C T intron_variant BRCA-EU 1 173839332 173839332 single base substitution C T splice_region_variant BRCA-EU 1 173840821 173840821 deletion of <=200bp T - intron_variant BRCA-EU 1 173841138 173841138 single base substitution G A intron_variant BRCA-EU 1 173841700 173841700 deletion of <=200bp G - intron_variant BRCA-EU 1 173842762 173842762 single base substitution G C intron_variant BRCA-EU 1 173842762 173842762 single base substitution G C missense_variant E361Q 1081G>C BRCA-EU 1 173844042 173844042 deletion of <=200bp T - downstream_gene_variant BRCA-EU 1 173844042 173844042 deletion of <=200bp T - intron_variant BRCA-EU 1 173844756 173844756 single base substitution C G downstream_gene_variant BRCA-EU 1 173844756 173844756 single base substitution C G intron_variant BRCA-EU 1 173844960 173844960 deletion of <=200bp T - downstream_gene_variant BRCA-EU 1 173844960 173844960 deletion of <=200bp T - intron_variant BRCA-EU 1 173846053 173846053 single base substitution G C downstream_gene_variant BRCA-EU 1 173846053 173846053 single base substitution G C intron_variant BRCA-EU 1 173846224 173846224 single base substitution G A downstream_gene_variant BRCA-EU 1 173846224 173846224 single base substitution G A intron_variant BRCA-EU 1 173846333 173846333 single base substitution G A downstream_gene_variant BRCA-EU 1 173846333 173846333 single base substitution G A intron_variant BRCA-EU 1 173849587 173849587 single base substitution G C intron_variant BRCA-EU 1 173850005 173850005 single base substitution G A intron_variant BRCA-EU 1 173850257 173850257 single base substitution G A intron_variant BRCA-EU 1 173851254 173851254 single base substitution T A intron_variant BRCA-EU 1 173851504 173851504 single base substitution C G intron_variant BRCA-EU 1 173852274 173852274 single base substitution T C intron_variant BRCA-EU 1 173852825 173852825 single base substitution A C intron_variant BRCA-EU 1 173854429 173854429 single base substitution G A intron_variant BRCA-EU 1 173855120 173855120 single base substitution C T 3_prime_UTR_variant BRCA-EU 1 173855120 173855120 single base substitution C T missense_variant P457L 1370C>T BRCA-EU 1 173855160 173855160 single base substitution C G 3_prime_UTR_variant BRCA-EU 1 173855160 173855160 single base substitution C G synonymous_variant V470V 1410C>G BRCA-EU 1 173856528 173856528 single base substitution C A 3_prime_UTR_variant BRCA-EU 1 173856528 173856528 single base substitution C A downstream_gene_variant BRCA-EU 1 173858973 173858973 single base substitution G T 3_prime_UTR_variant BRCA-EU 1 173858973 173858973 single base substitution G T downstream_gene_variant BRCA-EU 1 173859354 173859354 single base substitution G A 3_prime_UTR_variant BRCA-EU 1 173859354 173859354 single base substitution G A downstream_gene_variant BRCA-EU 1 173859487 173859489 deletion of <=200bp TCT - 3_prime_UTR_variant BRCA-EU 1 173859487 173859489 deletion of <=200bp TCT - downstream_gene_variant BRCA-EU 1 173859985 173859985 single base substitution G A 3_prime_UTR_variant BRCA-EU 1 173859985 173859985 single base substitution G A downstream_gene_variant BRCA-EU 1 173860159 173860159 single base substitution C T 3_prime_UTR_variant BRCA-EU 1 173860159 173860159 single base substitution C T downstream_gene_variant BRCA-EU 1 173860210 173860210 deletion of <=200bp T - 3_prime_UTR_variant BRCA-EU 1 173860210 173860210 deletion of <=200bp T - downstream_gene_variant BRCA-EU 1 173861697 173861697 single base substitution G A 3_prime_UTR_variant BRCA-EU 1 173861740 173861740 single base substitution C G 3_prime_UTR_variant BRCA-EU 1 173862061 173862061 single base substitution G C 3_prime_UTR_variant BRCA-EU 1 173863005 173863005 single base substitution G C 3_prime_UTR_variant BRCA-EU 1 173863005 173863005 single base substitution G T 3_prime_UTR_variant BRCA-EU 1 173866949 173866949 single base substitution C T 3_prime_UTR_variant BRCA-EU 1 173866955 173866955 single base substitution C G 3_prime_UTR_variant BRCA-EU 1 173867244 173867244 deletion of <=200bp T - 3_prime_UTR_variant BRCA-EU 1 173867550 173867550 single base substitution G T 3_prime_UTR_variant BRCA-EU 1 173867558 173867558 single base substitution G A 3_prime_UTR_variant BRCA-EU 1 173867784 173867784 single base substitution T C 3_prime_UTR_variant BRCA-EU 1 173867944 173867944 single base substitution T C 3_prime_UTR_variant BRCA-EU 1 173867967 173867967 single base substitution C A 3_prime_UTR_variant BRCA-EU 1 173868001 173868001 single base substitution C A 3_prime_UTR_variant BRCA-EU 1 173868933 173868933 single base substitution A G 3_prime_UTR_variant BRCA-EU 1 173869173 173869173 single base substitution G C 3_prime_UTR_variant BRCA-EU 1 173872171 173872171 single base substitution G A 3_prime_UTR_variant BRCA-EU 1 173874351 173874351 single base substitution G A downstream_gene_variant BRCA-EU 1 173874467 173874467 single base substitution G A downstream_gene_variant BRCA-EU 1 173876212 173876212 single base substitution C G downstream_gene_variant BRCA-EU 1 173876736 173876736 single base substitution G C downstream_gene_variant BRCA-EU 1 173876948 173876948 single base substitution C T downstream_gene_variant BRCA-EU 1 173877607 173877607 single base substitution G A downstream_gene_variant BRCA-FR 1 173836748 173836748 single base substitution G C upstream_gene_variant BRCA-FR 1 173836835 173836835 single base substitution C A upstream_gene_variant BRCA-FR 1 173837024 173837024 single base substitution C T upstream_gene_variant BRCA-FR 1 173837946 173837946 single base substitution C G intron_variant BRCA-FR 1 173837946 173837946 single base substitution C G upstream_gene_variant BRCA-FR 1 173846385 173846385 single base substitution C A downstream_gene_variant BRCA-FR 1 173846385 173846385 single base substitution C A intron_variant BRCA-FR 1 173850005 173850005 single base substitution G A intron_variant BRCA-FR 1 173851350 173851350 single base substitution T C intron_variant BRCA-FR 1 173855160 173855160 single base substitution C G 3_prime_UTR_variant BRCA-FR 1 173855160 173855160 single base substitution C G synonymous_variant V470V 1410C>G BRCA-FR 1 173856509 173856509 single base substitution G T 3_prime_UTR_variant BRCA-FR 1 173856509 173856509 single base substitution G T downstream_gene_variant BRCA-FR 1 173874467 173874467 single base substitution G A downstream_gene_variant BRCA-FR 1 173876212 173876212 single base substitution C G downstream_gene_variant BRCA-UK 1 173835496 173835496 single base substitution C G upstream_gene_variant BRCA-UK 1 173836637 173836637 single base substitution G A upstream_gene_variant BRCA-UK 1 173850623 173850623 single base substitution G A intron_variant BRCA-US 1 173834509 173834509 single base substitution C G upstream_gene_variant BRCA-US 1 173835788 173835790 deletion of <=200bp ATG - upstream_gene_variant BRCA-US 1 173839766 173839766 single base substitution G A missense_variant E135K 403G>A BRCA-US 1 173840037 173840037 single base substitution G A missense_variant G225E 674G>A BRCA-US 1 173854992 173854992 single base substitution T A 3_prime_UTR_variant BRCA-US 1 173854992 173854992 single base substitution T A missense_variant D414E 1242T>A BTCA-JP 1 173835655 173835655 single base substitution A T upstream_gene_variant BTCA-JP 1 173836024 173836024 single base substitution G C upstream_gene_variant BTCA-JP 1 173839320 173839320 single base substitution G A intron_variant BTCA-JP 1 173839617 173839617 single base substitution C A missense_variant S85Y 254C>A BTCA-JP 1 173854652 173854652 single base substitution T C intron_variant BTCA-JP 1 173855121 173855121 single base substitution C G 3_prime_UTR_variant BTCA-JP 1 173855121 173855121 single base substitution C G synonymous_variant P457P 1371C>G CESC-US 1 173839612 173839612 single base substitution C G synonymous_variant L83L 249C>G CESC-US 1 173839814 173839814 single base substitution G A missense_variant E151K 451G>A CESC-US 1 173840150 173840150 single base substitution G C missense_variant E263Q 787G>C CESC-US 1 173840188 173840188 single base substitution G T synonymous_variant V275V 825G>T CESC-US 1 173842618 173842618 single base substitution G A intron_variant CESC-US 1 173842618 173842618 single base substitution G A missense_variant G313S 937G>A CESC-US 1 173854952 173854952 single base substitution T C 3_prime_UTR_variant CESC-US 1 173854952 173854952 single base substitution T C missense_variant F401S 1202T>C CESC-US 1 173876634 173876634 single base substitution C T downstream_gene_variant CLLE-ES 1 173833792 173833792 insertion of <=200bp - TCCTTC upstream_gene_variant CLLE-ES 1 173833923 173833923 single base substitution G A upstream_gene_variant CLLE-ES 1 173849301 173849301 single base substitution G T intron_variant CLLE-ES 1 173858480 173858480 single base substitution T G 3_prime_UTR_variant CLLE-ES 1 173858480 173858480 single base substitution T G downstream_gene_variant COAD-US 1 173839907 173839907 single base substitution C T synonymous_variant L182L 544C>T COAD-US 1 173854937 173854937 insertion of <=200bp - G 3_prime_UTR_variant COAD-US 1 173854937 173854937 insertion of <=200bp - G frameshift_variant M396S? COAD-US 1 173855179 173855179 single base substitution G A 3_prime_UTR_variant COAD-US 1 173855179 173855179 single base substitution G A missense_variant E477K 1429G>A COCA-CN 1 173834533 173834533 single base substitution T C upstream_gene_variant COCA-CN 1 173835134 173835134 single base substitution T C upstream_gene_variant COCA-CN 1 173835888 173835888 single base substitution T A upstream_gene_variant COCA-CN 1 173839860 173839860 single base substitution G A missense_variant R166Q 497G>A COCA-CN 1 173842467 173842467 single base substitution A G intron_variant COCA-CN 1 173876577 173876577 single base substitution G T downstream_gene_variant ESAD-UK 1 173834998 173834998 single base substitution A T upstream_gene_variant ESAD-UK 1 173836952 173836952 single base substitution A G upstream_gene_variant ESAD-UK 1 173838473 173838473 single base substitution G A intron_variant ESAD-UK 1 173839759 173839759 single base substitution T C synonymous_variant A132A 396T>C ESAD-UK 1 173842273 173842273 single base substitution C T intron_variant ESAD-UK 1 173842830 173842830 deletion of <=200bp T - downstream_gene_variant ESAD-UK 1 173842830 173842830 deletion of <=200bp T - intron_variant ESAD-UK 1 173842838 173842838 insertion of <=200bp - C downstream_gene_variant ESAD-UK 1 173842838 173842838 insertion of <=200bp - C intron_variant ESAD-UK 1 173843141 173843141 single base substitution C G downstream_gene_variant ESAD-UK 1 173843141 173843141 single base substitution C G intron_variant ESAD-UK 1 173843741 173843741 single base substitution G A downstream_gene_variant ESAD-UK 1 173843741 173843741 single base substitution G A intron_variant ESAD-UK 1 173844050 173844050 single base substitution T A downstream_gene_variant ESAD-UK 1 173844050 173844050 single base substitution T A intron_variant ESAD-UK 1 173844052 173844052 single base substitution A T downstream_gene_variant ESAD-UK 1 173844052 173844052 single base substitution A T intron_variant ESAD-UK 1 173844761 173844761 single base substitution G A downstream_gene_variant ESAD-UK 1 173844761 173844761 single base substitution G A intron_variant ESAD-UK 1 173848096 173848096 single base substitution G A intron_variant ESAD-UK 1 173848595 173848595 single base substitution A C intron_variant ESAD-UK 1 173848780 173848780 single base substitution G A intron_variant ESAD-UK 1 173852754 173852754 single base substitution C T intron_variant ESAD-UK 1 173854098 173854098 single base substitution G A intron_variant ESAD-UK 1 173854823 173854823 single base substitution G A 3_prime_UTR_variant ESAD-UK 1 173854823 173854823 single base substitution G A missense_variant R358Q 1073G>A ESAD-UK 1 173854865 173854865 single base substitution G A 3_prime_UTR_variant ESAD-UK 1 173854865 173854865 single base substitution G A missense_variant R372H 1115G>A ESAD-UK 1 173855650 173855650 single base substitution A T 3_prime_UTR_variant ESAD-UK 1 173857674 173857674 single base substitution A G 3_prime_UTR_variant ESAD-UK 1 173857674 173857674 single base substitution A G downstream_gene_variant ESAD-UK 1 173859812 173859812 single base substitution C T 3_prime_UTR_variant ESAD-UK 1 173859812 173859812 single base substitution C T downstream_gene_variant ESAD-UK 1 173861998 173861998 single base substitution G A 3_prime_UTR_variant ESAD-UK 1 173865029 173865029 single base substitution T C 3_prime_UTR_variant ESAD-UK 1 173867252 173867252 single base substitution T G 3_prime_UTR_variant ESAD-UK 1 173867343 173867343 single base substitution A T 3_prime_UTR_variant ESAD-UK 1 173869522 173869522 single base substitution C T 3_prime_UTR_variant ESAD-UK 1 173870404 173870404 single base substitution T G 3_prime_UTR_variant ESAD-UK 1 173871561 173871561 single base substitution T G 3_prime_UTR_variant ESAD-UK 1 173874696 173874696 single base substitution A G downstream_gene_variant ESAD-UK 1 173875491 173875491 single base substitution C T downstream_gene_variant ESAD-UK 1 173876875 173876875 single base substitution C T downstream_gene_variant ESAD-UK 1 173877229 173877229 single base substitution G A downstream_gene_variant ESCA-CN 1 173839636 173839636 single base substitution G A synonymous_variant R91R 273G>A GBM-US 1 173840057 173840057 single base substitution C T missense_variant R232W 694C>T KIRC-US 1 173835706 173835706 single base substitution C A upstream_gene_variant KIRC-US 1 173839525 173839525 single base substitution C G synonymous_variant S54S 162C>G KIRC-US 1 173854955 173854955 single base substitution T A 3_prime_UTR_variant KIRC-US 1 173854955 173854955 single base substitution T A missense_variant V402D 1205T>A KIRC-US 1 173854993 173854993 single base substitution C A 3_prime_UTR_variant KIRC-US 1 173854993 173854993 single base substitution C A missense_variant Q415K 1243C>A KIRP-US 1 173839638 173839638 single base substitution T C missense_variant I92T 275T>C LAML-KR 1 173833630 173833630 single base substitution G C upstream_gene_variant LAML-KR 1 173842467 173842467 single base substitution A G intron_variant LAML-KR 1 173848585 173848585 single base substitution T A intron_variant LICA-CN 1 173854994 173854994 single base substitution A G 3_prime_UTR_variant LICA-CN 1 173854994 173854994 single base substitution A G missense_variant Q415R 1244A>G LICA-FR 1 173851375 173851375 single base substitution C T intron_variant LICA-FR 1 173859317 173859317 single base substitution T C 3_prime_UTR_variant LICA-FR 1 173859317 173859317 single base substitution T C downstream_gene_variant LICA-FR 1 173868197 173868197 single base substitution T C 3_prime_UTR_variant LICA-FR 1 173868571 173868571 single base substitution T G 3_prime_UTR_variant LICA-FR 1 173872938 173872938 single base substitution T C downstream_gene_variant LICA-FR 1 173873128 173873128 deletion of <=200bp C - downstream_gene_variant LIHC-US 1 173842760 173842760 single base substitution A T intron_variant LIHC-US 1 173842760 173842760 single base substitution A T missense_variant Y360F 1079A>T LINC-JP 1 173833451 173833451 single base substitution G C upstream_gene_variant LINC-JP 1 173834815 173834815 single base substitution A G upstream_gene_variant LINC-JP 1 173836076 173836076 single base substitution T G upstream_gene_variant LINC-JP 1 173836086 173836086 deletion of <=200bp T - upstream_gene_variant LINC-JP 1 173836115 173836115 single base substitution T A upstream_gene_variant LINC-JP 1 173837118 173837118 single base substitution C T upstream_gene_variant LINC-JP 1 173839781 173839784 deletion of <=200bp CAAA - frameshift_variant QT140 LINC-JP 1 173839983 173839983 single base substitution G C missense_variant S207T 620G>C LINC-JP 1 173845884 173845884 single base substitution T C downstream_gene_variant LINC-JP 1 173845884 173845884 single base substitution T C intron_variant LINC-JP 1 173855581 173855581 single base substitution T C 3_prime_UTR_variant LINC-JP 1 173873041 173873041 single base substitution G A downstream_gene_variant LINC-JP 1 173877122 173877122 single base substitution A T downstream_gene_variant LIRI-JP 1 173832582 173832582 single base substitution G A upstream_gene_variant LIRI-JP 1 173833902 173833902 single base substitution A T upstream_gene_variant LIRI-JP 1 173835523 173835523 single base substitution T G upstream_gene_variant LIRI-JP 1 173835546 173835546 single base substitution T C upstream_gene_variant LIRI-JP 1 173835595 173835595 single base substitution A T upstream_gene_variant LIRI-JP 1 173836826 173836826 single base substitution G A upstream_gene_variant LIRI-JP 1 173838368 173838368 single base substitution A C intron_variant LIRI-JP 1 173838552 173838552 single base substitution A C intron_variant LIRI-JP 1 173847368 173847368 insertion of <=200bp - A downstream_gene_variant LIRI-JP 1 173847368 173847368 insertion of <=200bp - A intron_variant LIRI-JP 1 173848756 173848756 single base substitution A C intron_variant LIRI-JP 1 173848779 173848779 single base substitution A C intron_variant LIRI-JP 1 173851246 173851246 single base substitution T A intron_variant LIRI-JP 1 173853430 173853430 single base substitution A G intron_variant LIRI-JP 1 173855619 173855619 single base substitution C G 3_prime_UTR_variant LIRI-JP 1 173858112 173858112 single base substitution T C 3_prime_UTR_variant LIRI-JP 1 173858112 173858112 single base substitution T C downstream_gene_variant LIRI-JP 1 173859727 173859727 single base substitution T C 3_prime_UTR_variant LIRI-JP 1 173859727 173859727 single base substitution T C downstream_gene_variant LIRI-JP 1 173861676 173861676 single base substitution A G 3_prime_UTR_variant LIRI-JP 1 173861838 173861838 single base substitution T G 3_prime_UTR_variant LIRI-JP 1 173861850 173861850 single base substitution T G 3_prime_UTR_variant LIRI-JP 1 173862994 173862994 single base substitution A G 3_prime_UTR_variant LIRI-JP 1 173863001 173863001 single base substitution A G 3_prime_UTR_variant LIRI-JP 1 173863009 173863009 single base substitution A G 3_prime_UTR_variant LIRI-JP 1 173863250 173863250 single base substitution A G 3_prime_UTR_variant LIRI-JP 1 173863261 173863261 single base substitution T G 3_prime_UTR_variant LIRI-JP 1 173863995 173863995 single base substitution G T 3_prime_UTR_variant LIRI-JP 1 173864565 173864565 single base substitution T G 3_prime_UTR_variant LIRI-JP 1 173867141 173867141 single base substitution T G 3_prime_UTR_variant LIRI-JP 1 173867151 173867153 deletion of <=200bp AGG - 3_prime_UTR_variant LIRI-JP 1 173867154 173867154 single base substitution A T 3_prime_UTR_variant LIRI-JP 1 173867554 173867554 single base substitution A G 3_prime_UTR_variant LIRI-JP 1 173867995 173867995 single base substitution T A 3_prime_UTR_variant LIRI-JP 1 173869145 173869145 single base substitution T C 3_prime_UTR_variant LIRI-JP 1 173869194 173869194 single base substitution A C 3_prime_UTR_variant LIRI-JP 1 173869821 173869821 single base substitution G A 3_prime_UTR_variant LIRI-JP 1 173870069 173870069 single base substitution T A 3_prime_UTR_variant LIRI-JP 1 173870119 173870136 deletion of <=200bp AGCAGAGTGGGGAAGTAA - 3_prime_UTR_variant LIRI-JP 1 173872492 173872492 single base substitution A G 3_prime_UTR_variant LIRI-JP 1 173873810 173873810 single base substitution T C downstream_gene_variant LIRI-JP 1 173875855 173875855 single base substitution A C downstream_gene_variant LIRI-JP 1 173876924 173876924 single base substitution C T downstream_gene_variant LUSC-KR 1 173838200 173838200 single base substitution C A 5_prime_UTR_variant LUSC-KR 1 173860293 173860293 single base substitution G T 3_prime_UTR_variant LUSC-KR 1 173860293 173860293 single base substitution G T downstream_gene_variant LUSC-KR 1 173866265 173866265 single base substitution G C 3_prime_UTR_variant LUSC-KR 1 173871143 173871143 single base substitution C G 3_prime_UTR_variant LUSC-KR 1 173872503 173872503 single base substitution C T 3_prime_UTR_variant LUSC-KR 1 173877485 173877485 single base substitution G C downstream_gene_variant LUSC-US 1 173836247 173836247 insertion of <=200bp - A upstream_gene_variant LUSC-US 1 173839578 173839578 single base substitution C T missense_variant S72L 215C>T LUSC-US 1 173873178 173873178 single base substitution G T downstream_gene_variant MALY-DE 1 173833496 173833496 single base substitution G T upstream_gene_variant MALY-DE 1 173833866 173833866 single base substitution G A upstream_gene_variant MALY-DE 1 173835118 173835118 single base substitution C T upstream_gene_variant MALY-DE 1 173835502 173835502 single base substitution A G upstream_gene_variant MALY-DE 1 173835527 173835527 single base substitution G C upstream_gene_variant MALY-DE 1 173836024 173836024 single base substitution G A upstream_gene_variant MALY-DE 1 173836221 173836221 single base substitution G T upstream_gene_variant MALY-DE 1 173836342 173836342 single base substitution G A upstream_gene_variant MALY-DE 1 173836843 173836843 single base substitution C G upstream_gene_variant MALY-DE 1 173837042 173837042 single base substitution G A upstream_gene_variant MALY-DE 1 173846501 173846501 single base substitution G A downstream_gene_variant MALY-DE 1 173846501 173846501 single base substitution G A intron_variant MALY-DE 1 173847854 173847854 deletion of <=200bp T - intron_variant MALY-DE 1 173853430 173853430 single base substitution A G intron_variant MALY-DE 1 173859444 173859444 single base substitution G T 3_prime_UTR_variant MALY-DE 1 173859444 173859444 single base substitution G T downstream_gene_variant MALY-DE 1 173860519 173860519 single base substitution T C 3_prime_UTR_variant MALY-DE 1 173860519 173860519 single base substitution T C downstream_gene_variant MALY-DE 1 173861758 173861758 single base substitution A G 3_prime_UTR_variant MALY-DE 1 173863688 173863688 single base substitution A T 3_prime_UTR_variant MALY-DE 1 173864883 173864883 single base substitution A G 3_prime_UTR_variant MALY-DE 1 173867115 173867115 single base substitution C T 3_prime_UTR_variant MALY-DE 1 173872390 173872390 insertion of <=200bp - G 3_prime_UTR_variant MALY-DE 1 173875471 173875471 single base substitution A G downstream_gene_variant MALY-DE 1 173876784 173876784 single base substitution C G downstream_gene_variant MELA-AU 1 173832625 173832625 single base substitution T C upstream_gene_variant MELA-AU 1 173832650 173832650 single base substitution C T upstream_gene_variant MELA-AU 1 173833408 173833408 single base substitution A G upstream_gene_variant MELA-AU 1 173833953 173833953 single base substitution G A upstream_gene_variant MELA-AU 1 173834474 173834474 single base substitution A T upstream_gene_variant MELA-AU 1 173836043 173836044 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 1 173836119 173836119 single base substitution C T upstream_gene_variant MELA-AU 1 173836785 173836785 single base substitution T C upstream_gene_variant MELA-AU 1 173837163 173837163 single base substitution C T upstream_gene_variant MELA-AU 1 173837189 173837189 single base substitution C T upstream_gene_variant MELA-AU 1 173837206 173837206 single base substitution C T upstream_gene_variant MELA-AU 1 173837285 173837285 single base substitution C T 5_prime_UTR_variant MELA-AU 1 173837285 173837285 single base substitution C T upstream_gene_variant MELA-AU 1 173837450 173837450 single base substitution C T intron_variant MELA-AU 1 173837450 173837450 single base substitution C T upstream_gene_variant MELA-AU 1 173838102 173838102 single base substitution C T 5_prime_UTR_variant MELA-AU 1 173839476 173839476 single base substitution T C missense_variant V38A 113T>C MELA-AU 1 173839534 173839534 single base substitution C T synonymous_variant F57F 171C>T MELA-AU 1 173839986 173839986 single base substitution G A missense_variant R208Q 623G>A MELA-AU 1 173841983 173841983 single base substitution A G intron_variant MELA-AU 1 173842173 173842173 single base substitution C T intron_variant MELA-AU 1 173842722 173842722 single base substitution T C intron_variant MELA-AU 1 173842722 173842722 single base substitution T C synonymous_variant F347F 1041T>C MELA-AU 1 173844472 173844472 single base substitution T A downstream_gene_variant MELA-AU 1 173844472 173844472 single base substitution T A intron_variant MELA-AU 1 173844583 173844584 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 1 173844583 173844584 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 173845904 173845904 single base substitution T C downstream_gene_variant MELA-AU 1 173845904 173845904 single base substitution T C intron_variant MELA-AU 1 173846131 173846131 single base substitution C T downstream_gene_variant MELA-AU 1 173846131 173846131 single base substitution C T intron_variant MELA-AU 1 173846249 173846249 single base substitution T A downstream_gene_variant MELA-AU 1 173846249 173846249 single base substitution T A intron_variant MELA-AU 1 173846267 173846267 single base substitution A G downstream_gene_variant MELA-AU 1 173846267 173846267 single base substitution A G intron_variant MELA-AU 1 173846679 173846679 single base substitution C T downstream_gene_variant MELA-AU 1 173846679 173846679 single base substitution C T intron_variant MELA-AU 1 173846776 173846776 single base substitution C T downstream_gene_variant MELA-AU 1 173846776 173846776 single base substitution C T intron_variant MELA-AU 1 173847007 173847007 single base substitution C T downstream_gene_variant MELA-AU 1 173847007 173847007 single base substitution C T intron_variant MELA-AU 1 173847276 173847276 single base substitution T C downstream_gene_variant MELA-AU 1 173847276 173847276 single base substitution T C intron_variant MELA-AU 1 173847457 173847457 single base substitution C T downstream_gene_variant MELA-AU 1 173847457 173847457 single base substitution C T intron_variant MELA-AU 1 173847472 173847472 single base substitution C T downstream_gene_variant MELA-AU 1 173847472 173847472 single base substitution C T intron_variant MELA-AU 1 173847726 173847726 single base substitution G A downstream_gene_variant MELA-AU 1 173847726 173847726 single base substitution G A intron_variant MELA-AU 1 173847961 173847961 single base substitution C T intron_variant MELA-AU 1 173848111 173848111 single base substitution C T intron_variant MELA-AU 1 173848143 173848143 single base substitution C T intron_variant MELA-AU 1 173848281 173848281 single base substitution C T intron_variant MELA-AU 1 173848361 173848361 single base substitution C T intron_variant MELA-AU 1 173850233 173850233 single base substitution C T intron_variant MELA-AU 1 173850734 173850734 single base substitution C T intron_variant MELA-AU 1 173850735 173850735 single base substitution C T intron_variant MELA-AU 1 173850913 173850913 single base substitution C T intron_variant MELA-AU 1 173851212 173851212 single base substitution C T intron_variant MELA-AU 1 173851422 173851422 single base substitution C T intron_variant MELA-AU 1 173851599 173851599 single base substitution C T intron_variant MELA-AU 1 173851600 173851600 single base substitution G A intron_variant MELA-AU 1 173851646 173851646 single base substitution A G intron_variant MELA-AU 1 173851826 173851826 single base substitution C T intron_variant MELA-AU 1 173852109 173852110 multiple base substitution (>=2bp and <=200bp) AC TT intron_variant MELA-AU 1 173852229 173852230 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 173852588 173852588 single base substitution A C intron_variant MELA-AU 1 173852836 173852836 single base substitution T C intron_variant MELA-AU 1 173853624 173853624 single base substitution T G intron_variant MELA-AU 1 173854900 173854900 single base substitution C T 3_prime_UTR_variant MELA-AU 1 173854900 173854900 single base substitution C T stop_gained Q384* 1150C>T MELA-AU 1 173855444 173855444 single base substitution T C 3_prime_UTR_variant MELA-AU 1 173855499 173855499 single base substitution G A 3_prime_UTR_variant MELA-AU 1 173855567 173855567 single base substitution T G 3_prime_UTR_variant MELA-AU 1 173855669 173855669 single base substitution C T 3_prime_UTR_variant MELA-AU 1 173855731 173855731 single base substitution C T 3_prime_UTR_variant MELA-AU 1 173856072 173856072 single base substitution C A 3_prime_UTR_variant MELA-AU 1 173856072 173856072 single base substitution C A downstream_gene_variant MELA-AU 1 173856394 173856394 single base substitution T C 3_prime_UTR_variant MELA-AU 1 173856394 173856394 single base substitution T C downstream_gene_variant MELA-AU 1 173856411 173856411 single base substitution A G 3_prime_UTR_variant MELA-AU 1 173856411 173856411 single base substitution A G downstream_gene_variant MELA-AU 1 173856722 173856722 single base substitution T C 3_prime_UTR_variant MELA-AU 1 173856722 173856722 single base substitution T C downstream_gene_variant MELA-AU 1 173856730 173856730 single base substitution C T 3_prime_UTR_variant MELA-AU 1 173856730 173856730 single base substitution C T downstream_gene_variant MELA-AU 1 173856983 173856983 single base substitution C T 3_prime_UTR_variant MELA-AU 1 173856983 173856983 single base substitution C T downstream_gene_variant MELA-AU 1 173858091 173858091 single base substitution C T 3_prime_UTR_variant MELA-AU 1 173858091 173858091 single base substitution C T downstream_gene_variant MELA-AU 1 173858092 173858092 single base substitution C T 3_prime_UTR_variant MELA-AU 1 173858092 173858092 single base substitution C T downstream_gene_variant MELA-AU 1 173858202 173858202 single base substitution C T 3_prime_UTR_variant MELA-AU 1 173858202 173858202 single base substitution C T downstream_gene_variant MELA-AU 1 173858296 173858296 single base substitution C T 3_prime_UTR_variant MELA-AU 1 173858296 173858296 single base substitution C T downstream_gene_variant MELA-AU 1 173858458 173858458 single base substitution C T 3_prime_UTR_variant MELA-AU 1 173858458 173858458 single base substitution C T downstream_gene_variant MELA-AU 1 173858600 173858600 single base substitution T C 3_prime_UTR_variant MELA-AU 1 173858600 173858600 single base substitution T C downstream_gene_variant MELA-AU 1 173858853 173858853 single base substitution C T 3_prime_UTR_variant MELA-AU 1 173858853 173858853 single base substitution C T downstream_gene_variant MELA-AU 1 173859677 173859677 single base substitution T C 3_prime_UTR_variant MELA-AU 1 173859677 173859677 single base substitution T C downstream_gene_variant MELA-AU 1 173859832 173859832 single base substitution T C 3_prime_UTR_variant MELA-AU 1 173859832 173859832 single base substitution T C downstream_gene_variant MELA-AU 1 173859926 173859926 single base substitution A T 3_prime_UTR_variant MELA-AU 1 173859926 173859926 single base substitution A T downstream_gene_variant MELA-AU 1 173860407 173860407 single base substitution C T 3_prime_UTR_variant MELA-AU 1 173860407 173860407 single base substitution C T downstream_gene_variant MELA-AU 1 173860596 173860596 single base substitution G A 3_prime_UTR_variant MELA-AU 1 173860596 173860596 single base substitution G A downstream_gene_variant MELA-AU 1 173861472 173861472 single base substitution C T 3_prime_UTR_variant MELA-AU 1 173862009 173862009 single base substitution G A 3_prime_UTR_variant MELA-AU 1 173862292 173862292 single base substitution C T 3_prime_UTR_variant MELA-AU 1 173863566 173863566 single base substitution C T 3_prime_UTR_variant MELA-AU 1 173863732 173863732 single base substitution C T 3_prime_UTR_variant MELA-AU 1 173863747 173863747 single base substitution G A 3_prime_UTR_variant MELA-AU 1 173864283 173864283 single base substitution C T 3_prime_UTR_variant MELA-AU 1 173864496 173864496 single base substitution C T 3_prime_UTR_variant MELA-AU 1 173864787 173864787 single base substitution C T 3_prime_UTR_variant MELA-AU 1 173865096 173865096 single base substitution C T 3_prime_UTR_variant MELA-AU 1 173865158 173865158 single base substitution C T 3_prime_UTR_variant MELA-AU 1 173866151 173866151 single base substitution C T 3_prime_UTR_variant MELA-AU 1 173866429 173866429 single base substitution T G 3_prime_UTR_variant MELA-AU 1 173866996 173866997 multiple base substitution (>=2bp and <=200bp) AT TC 3_prime_UTR_variant MELA-AU 1 173867426 173867426 single base substitution C T 3_prime_UTR_variant MELA-AU 1 173868362 173868362 single base substitution C T 3_prime_UTR_variant MELA-AU 1 173868666 173868666 single base substitution C T 3_prime_UTR_variant MELA-AU 1 173868990 173868990 single base substitution C T 3_prime_UTR_variant MELA-AU 1 173869098 173869098 single base substitution C T 3_prime_UTR_variant MELA-AU 1 173869349 173869349 single base substitution C T 3_prime_UTR_variant MELA-AU 1 173869830 173869830 single base substitution T C 3_prime_UTR_variant MELA-AU 1 173870345 173870345 single base substitution C T 3_prime_UTR_variant MELA-AU 1 173871378 173871378 single base substitution C T 3_prime_UTR_variant MELA-AU 1 173872842 173872842 single base substitution G A downstream_gene_variant MELA-AU 1 173873268 173873268 single base substitution C T downstream_gene_variant MELA-AU 1 173873288 173873288 single base substitution C T downstream_gene_variant MELA-AU 1 173873371 173873371 single base substitution C T downstream_gene_variant MELA-AU 1 173873542 173873542 single base substitution G A downstream_gene_variant MELA-AU 1 173873747 173873747 single base substitution T C downstream_gene_variant MELA-AU 1 173873906 173873906 single base substitution C T downstream_gene_variant MELA-AU 1 173873918 173873918 single base substitution C T downstream_gene_variant MELA-AU 1 173874259 173874259 single base substitution C T downstream_gene_variant MELA-AU 1 173874773 173874773 single base substitution C T downstream_gene_variant MELA-AU 1 173874842 173874842 single base substitution G A downstream_gene_variant MELA-AU 1 173874980 173874980 single base substitution G A downstream_gene_variant MELA-AU 1 173875191 173875191 single base substitution C T downstream_gene_variant MELA-AU 1 173875346 173875346 single base substitution C T downstream_gene_variant MELA-AU 1 173875460 173875460 single base substitution G A downstream_gene_variant MELA-AU 1 173875567 173875567 single base substitution C T downstream_gene_variant MELA-AU 1 173875707 173875707 single base substitution T C downstream_gene_variant MELA-AU 1 173875924 173875924 single base substitution G A downstream_gene_variant MELA-AU 1 173876081 173876081 deletion of <=200bp C - downstream_gene_variant MELA-AU 1 173876275 173876275 single base substitution C T downstream_gene_variant MELA-AU 1 173876540 173876540 single base substitution C T downstream_gene_variant MELA-AU 1 173876656 173876656 single base substitution G T downstream_gene_variant MELA-AU 1 173876875 173876875 single base substitution C T downstream_gene_variant MELA-AU 1 173876929 173876929 single base substitution T G downstream_gene_variant MELA-AU 1 173876954 173876954 single base substitution C T downstream_gene_variant MELA-AU 1 173877314 173877314 single base substitution T A downstream_gene_variant MELA-AU 1 173877376 173877376 single base substitution C T downstream_gene_variant MELA-AU 1 173877452 173877452 single base substitution A G downstream_gene_variant MELA-AU 1 173877510 173877510 single base substitution C T downstream_gene_variant ORCA-IN 1 173833020 173833021 deletion of <=200bp AA - upstream_gene_variant OV-AU 1 173834520 173834520 single base substitution T G upstream_gene_variant OV-AU 1 173839778 173839778 single base substitution A T missense_variant S139C 415A>T OV-AU 1 173845112 173845112 single base substitution T A downstream_gene_variant OV-AU 1 173845112 173845112 single base substitution T A intron_variant OV-AU 1 173855453 173855453 single base substitution G A 3_prime_UTR_variant OV-AU 1 173859095 173859095 single base substitution C T 3_prime_UTR_variant OV-AU 1 173859095 173859095 single base substitution C T downstream_gene_variant OV-AU 1 173860730 173860730 single base substitution A G 3_prime_UTR_variant OV-AU 1 173860730 173860730 single base substitution A G downstream_gene_variant OV-AU 1 173867545 173867545 single base substitution G T 3_prime_UTR_variant OV-AU 1 173870480 173870480 single base substitution T C 3_prime_UTR_variant OV-AU 1 173871511 173871511 single base substitution A T 3_prime_UTR_variant OV-US 1 173873145 173873145 single base substitution G A downstream_gene_variant PACA-AU 1 173835961 173835961 single base substitution A C upstream_gene_variant PACA-AU 1 173836963 173836963 single base substitution C A upstream_gene_variant PACA-AU 1 173841836 173841836 single base substitution T A intron_variant PACA-AU 1 173844050 173844050 single base substitution T A downstream_gene_variant PACA-AU 1 173844050 173844050 single base substitution T A intron_variant PACA-AU 1 173845408 173845408 single base substitution G A downstream_gene_variant PACA-AU 1 173845408 173845408 single base substitution G A intron_variant PACA-AU 1 173855452 173855452 single base substitution C T 3_prime_UTR_variant PACA-AU 1 173855622 173855622 single base substitution G C 3_prime_UTR_variant PACA-AU 1 173859202 173859202 single base substitution A C 3_prime_UTR_variant PACA-AU 1 173859202 173859202 single base substitution A C downstream_gene_variant PACA-AU 1 173859824 173859824 single base substitution G A 3_prime_UTR_variant PACA-AU 1 173859824 173859824 single base substitution G A downstream_gene_variant PACA-AU 1 173862574 173862574 single base substitution G C 3_prime_UTR_variant PACA-AU 1 173864425 173864431 deletion of <=200bp GAGACGG - 3_prime_UTR_variant PACA-AU 1 173866160 173866160 single base substitution T G 3_prime_UTR_variant PACA-AU 1 173866478 173866478 single base substitution T A 3_prime_UTR_variant PACA-CA 1 173832386 173832386 insertion of <=200bp - A upstream_gene_variant PACA-CA 1 173833344 173833344 deletion of <=200bp G - upstream_gene_variant PACA-CA 1 173833989 173833989 single base substitution G C upstream_gene_variant PACA-CA 1 173835249 173835249 single base substitution A G upstream_gene_variant PACA-CA 1 173838002 173838002 single base substitution G A intron_variant PACA-CA 1 173838002 173838002 single base substitution G A upstream_gene_variant PACA-CA 1 173844050 173844050 single base substitution T A downstream_gene_variant PACA-CA 1 173844050 173844050 single base substitution T A intron_variant PACA-CA 1 173844051 173844051 single base substitution A T downstream_gene_variant PACA-CA 1 173844051 173844051 single base substitution A T intron_variant PACA-CA 1 173850203 173850203 single base substitution A G intron_variant PACA-CA 1 173852620 173852620 single base substitution A G intron_variant PACA-CA 1 173852764 173852764 single base substitution G C intron_variant PACA-CA 1 173854928 173854928 single base substitution G A 3_prime_UTR_variant PACA-CA 1 173854928 173854928 single base substitution G A missense_variant R393H 1178G>A PACA-CA 1 173858501 173858501 single base substitution A G 3_prime_UTR_variant PACA-CA 1 173858501 173858501 single base substitution A G downstream_gene_variant PACA-CA 1 173859380 173859380 single base substitution T G 3_prime_UTR_variant PACA-CA 1 173859380 173859380 single base substitution T G downstream_gene_variant PACA-CA 1 173863646 173863646 single base substitution A G 3_prime_UTR_variant PACA-CA 1 173867283 173867283 single base substitution A G 3_prime_UTR_variant PACA-CA 1 173871642 173871642 single base substitution C T 3_prime_UTR_variant PACA-CA 1 173872045 173872045 single base substitution G A 3_prime_UTR_variant PACA-CA 1 173872339 173872339 single base substitution G A 3_prime_UTR_variant PACA-CA 1 173873612 173873612 single base substitution G A downstream_gene_variant PAEN-AU 1 173834954 173834954 single base substitution C A upstream_gene_variant PBCA-DE 1 173837127 173837127 single base substitution G C upstream_gene_variant PBCA-DE 1 173840262 173840262 single base substitution G A missense_variant R300Q 899G>A PBCA-DE 1 173840829 173840829 single base substitution C T intron_variant PBCA-DE 1 173841449 173841449 single base substitution G A intron_variant PBCA-DE 1 173845503 173845503 single base substitution T C downstream_gene_variant PBCA-DE 1 173845503 173845503 single base substitution T C intron_variant PBCA-DE 1 173865595 173865595 single base substitution G A 3_prime_UTR_variant PBCA-DE 1 173866536 173866536 single base substitution G T 3_prime_UTR_variant PBCA-DE 1 173867244 173867244 insertion of <=200bp - T 3_prime_UTR_variant PRAD-CA 1 173862484 173862484 single base substitution C T 3_prime_UTR_variant PRAD-CA 1 173876180 173876180 single base substitution C T downstream_gene_variant PRAD-UK 1 173856870 173856870 single base substitution G T 3_prime_UTR_variant PRAD-UK 1 173856870 173856870 single base substitution G T downstream_gene_variant PRAD-US 1 173839439 173839439 single base substitution C T missense_variant R26C 76C>T READ-US 1 173839451 173839451 single base substitution C T missense_variant R30C 88C>T READ-US 1 173855095 173855095 single base substitution C T 3_prime_UTR_variant READ-US 1 173855095 173855095 single base substitution C T missense_variant R449C 1345C>T RECA-EU 1 173832760 173832760 single base substitution C A upstream_gene_variant RECA-EU 1 173834308 173834308 single base substitution C A upstream_gene_variant RECA-EU 1 173836463 173836463 single base substitution G T upstream_gene_variant RECA-EU 1 173841748 173841748 single base substitution G T intron_variant RECA-EU 1 173842374 173842374 single base substitution A T intron_variant RECA-EU 1 173844322 173844322 single base substitution A T downstream_gene_variant RECA-EU 1 173844322 173844322 single base substitution A T intron_variant RECA-EU 1 173845300 173845300 single base substitution T A downstream_gene_variant RECA-EU 1 173845300 173845300 single base substitution T A intron_variant RECA-EU 1 173859804 173859804 single base substitution C T 3_prime_UTR_variant RECA-EU 1 173859804 173859804 single base substitution C T downstream_gene_variant RECA-EU 1 173869595 173869595 single base substitution A G 3_prime_UTR_variant SKCA-BR 1 173833073 173833073 single base substitution G C upstream_gene_variant SKCA-BR 1 173835425 173835425 single base substitution A C upstream_gene_variant SKCA-BR 1 173835663 173835663 single base substitution C A upstream_gene_variant SKCA-BR 1 173844469 173844469 insertion of <=200bp - TA downstream_gene_variant SKCA-BR 1 173844469 173844469 insertion of <=200bp - TA intron_variant SKCA-BR 1 173844469 173844469 insertion of <=200bp - TATA downstream_gene_variant SKCA-BR 1 173844469 173844469 insertion of <=200bp - TATA intron_variant SKCA-BR 1 173844477 173844477 single base substitution T C downstream_gene_variant SKCA-BR 1 173844477 173844477 single base substitution T C intron_variant SKCA-BR 1 173851290 173851290 single base substitution C T intron_variant SKCA-BR 1 173854631 173854631 single base substitution C T intron_variant SKCA-BR 1 173854644 173854644 single base substitution A T intron_variant SKCA-BR 1 173856440 173856440 single base substitution C T 3_prime_UTR_variant SKCA-BR 1 173856440 173856440 single base substitution C T downstream_gene_variant SKCA-BR 1 173862832 173862832 single base substitution A G 3_prime_UTR_variant SKCA-BR 1 173863450 173863450 single base substitution C T 3_prime_UTR_variant SKCA-BR 1 173864616 173864616 single base substitution T G 3_prime_UTR_variant SKCA-BR 1 173868519 173868519 single base substitution T C 3_prime_UTR_variant SKCA-BR 1 173873895 173873895 single base substitution C T downstream_gene_variant SKCM-US 1 173839909 173839909 single base substitution G A synonymous_variant L182L 546G>A SKCM-US 1 173842613 173842613 single base substitution C T intron_variant SKCM-US 1 173842613 173842613 single base substitution C T missense_variant P311L 932C>T SKCM-US 1 173873052 173873052 single base substitution C T downstream_gene_variant SKCM-US 1 173873191 173873191 single base substitution C T downstream_gene_variant SKCM-US 1 173876605 173876605 single base substitution G T downstream_gene_variant STAD-US 1 173876592 173876592 single base substitution A C downstream_gene_variant UCEC-US 1 173839547 173839547 single base substitution T C missense_variant S62P 184T>C UCEC-US 1 173839915 173839915 single base substitution C G missense_variant I184M 552C>G UCEC-US 1 173839997 173839997 single base substitution C A missense_variant L212I 634C>A UCEC-US 1 173854843 173854843 single base substitution C T 3_prime_UTR_variant UCEC-US 1 173854843 173854843 single base substitution C T missense_variant R365W 1093C>T UCEC-US 1 173855043 173855043 single base substitution T C 3_prime_UTR_variant UCEC-US 1 173855043 173855043 single base substitution T C synonymous_variant C431C 1293T>C UCEC-US 1 173873033 173873033 single base substitution A G downstream_gene_variant UCEC-US 1 173873107 173873107 single base substitution G A downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand PR-2872 COSM248411 c.429_430delAA p.K144fs*20 Deletion - Frameshift 1:173870654-173870655 + TCGA-AO-A03M-01 COSM3802907 c.403G>A p.E135K Substitution - Missense 1:173870628-173870628 + Pat_44_B COSM5844543 c.524G>A p.R175Q Substitution - Missense 1:173870749-173870749 + TCGA-BS-A0UF-01 COSM899807 c.634C>A p.L212I Substitution - Missense 1:173870859-173870859 + HCC16 COSM1601260 c.620G>C p.S207T Substitution - Missense 1:173870845-173870845 + LUAD-F00089 COSM339719 c.937G>T p.G313C Substitution - Missense 1:173873480-173873480 + TCGA-BP-4165-01 COSM3360497 c.162C>G p.S54S Substitution - coding silent 1:173870387-173870387 + YUKAT COSM5378478 c.1002G>A p.E334E Substitution - coding silent 1:173873545-173873545 + cSCCP2 COSM137329 c.258C>A p.F86L Substitution - Missense 1:173870483-173870483 + TCGA-BT-A0YX-01 COSM414312 c.634C>G p.L212V Substitution - Missense 1:173870859-173870859 + CSCC-62-T COSM4513791 c.950C>T p.P317L Substitution - Missense 1:173873493-173873493 + T3147 COSM4742133 c.166T>C p.Y56H Substitution - Missense 1:173870391-173870391 + TCGA-D3-A51G-06 COSM3478545 c.932C>T p.P311L Substitution - Missense 1:173873475-173873475 + T578 COSM4742137 c.718C>A p.L240I Substitution - Missense 1:173870943-173870943 + TCGA-JX-A3Q0-01 COSM4823966 c.451G>A p.E151K Substitution - Missense 1:173870676-173870676 + PDA_038 COSM5000040 c.585delC p.P196fs*10 Deletion - Frameshift 1:173870810-173870810 + U2940 COSM5622207 c.490A>G p.S164G Substitution - Missense 1:173870715-173870715 + TCGA-BG-A0YV-01 COSM899806 c.552C>G p.I184M Substitution - Missense 1:173870777-173870777 + 422 COSM4432287 c.340A>G p.I114V Substitution - Missense 1:173870565-173870565 + HCC16T COSM1601260 c.620G>C p.S207T Substitution - Missense 1:173870845-173870845 + TCGA-28-5207-01 COSM3400010 c.694C>T p.R232W Substitution - Missense 1:173870919-173870919 + TCGA-BT-A20J-01 COSM414313 c.594C>T p.I198I Substitution - coding silent 1:173870819-173870819 + TCGA-EA-A1QT-01 COSM1293229 c.135T>C p.A45A Substitution - coding silent 1:173870360-173870360 + TCGA-C5-A1M6-01 COSM4826727 c.787G>C p.E263Q Substitution - Missense 1:173871012-173871012 + 587284 COSM1233140 c.76C>T p.R26C Substitution - Missense 1:173870301-173870301 + TCGA-18-3409-01 COSM414315 c.215C>T p.S72L Substitution - Missense 1:173870440-173870440 + TCGA-DK-A1A3-01 COSM414315 c.215C>T p.S72L Substitution - Missense 1:173870440-173870440 + PT23_1 COSM5902527 c.988G>T p.G330W Substitution - Missense 1:173873531-173873531 + BD121T COSM119838 c.254C>A p.S85Y Substitution - Missense 1:173870479-173870479 + CSCC-49-T COSM4496922 c.485C>T p.S162F Substitution - Missense 1:173870710-173870710 + TCGA-CH-5788-01 COSM1233140 c.76C>T p.R26C Substitution - Missense 1:173870301-173870301 + AOCS-088-3-8 COSM3980055 c.415A>T p.S139C Substitution - Missense 1:173870640-173870640 + T11 COSM5618754 c.72G>A p.Q24Q Substitution - coding silent 1:173870297-173870297 + TCGA-36-2547-01 COSM1320735 c.1026A>G p.V342V Substitution - coding silent 1:173873569-173873569 + SC_9047 COSM5554160 c.1040T>G p.F347C Substitution - Missense 1:173873583-173873583 + SNU-175 COSM2075769 c.695G>A p.R232Q Substitution - Missense 1:173870920-173870920 + ESCC_55 COSM5631663 c.409G>A p.E137K Substitution - Missense 1:173870634-173870634 + TCGA-C5-A1MH-01 COSM4820840 c.937G>A p.G313S Substitution - Missense 1:173873480-173873480 + TCGA-AM-5821-01 COSM3750618 c.544C>T p.L182L Substitution - coding silent 1:173870769-173870769 + TCGA-EI-6917-01 COSM3418362 c.88C>T p.R30C Substitution - Missense 1:173870313-173870313 + T578 COSM4742135 c.483C>T p.R161R Substitution - coding silent 1:173870708-173870708 + PD11372a COSM5767186 c.1081G>C p.E361Q Substitution - Missense 1:173873624-173873624 + 585270 COSM324356 c.268G>T p.G90W Substitution - Missense 1:173870493-173870493 + TCGA-CC-A7IH-01 COSM4923805 c.1079A>T p.Y360F Substitution - Missense 1:173873622-173873622 + TCGA-BQ-7062-01 COSM3984491 c.275T>C p.I92T Substitution - Missense 1:173870500-173870500 + ESCC_BICR_014T COSM5436153 c.273G>A p.R91R Substitution - coding silent 1:173870498-173870498 + TCGA-GV-A3QF-01 COSM3789106 c.111T>G p.N37K Substitution - Missense 1:173870336-173870336 + TCGA-EE-A2MQ-06 COSM3478543 c.546G>A p.L182L Substitution - coding silent 1:173870771-173870771 + YUKAT COSM5378476 c.653G>A p.G218E Substitution - Missense 1:173870878-173870878 + TCGA-09-2051-01 COSM119838 c.254C>A p.S85Y Substitution - Missense 1:173870479-173870479 + TCGA-BT-A20J-01 COSM414314 c.589C>T p.Q197* Substitution - Nonsense 1:173870814-173870814 + TCGA-C8-A3M7-01 COSM3802909 c.674G>A p.G225E Substitution - Missense 1:173870899-173870899 + LUAD-YINHD COSM349859 c.571G>C p.E191Q Substitution - Missense 1:173870796-173870796 + TCGA-D1-A16F-01 COSM899805 c.184T>C p.S62P Substitution - Missense 1:173870409-173870409 + TCGA-C5-A1M6-01 COSM4826637 c.825G>T p.V275V Substitution - coding silent 1:173871050-173871050 + TCGA-61-1725-01 COSM1320737 c.152C>A p.A51D Substitution - Missense 1:173870377-173870377 + Au3 COSM2075765 c.637C>T p.R213W Substitution - Missense 1:173870862-173870862 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.668492;Hs.668493;Hs.668494;Hs.668495;Hs.668496;Hs.668497 1q25.1

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Synonymous p.L22L c.66A>G 1 173839429 CM C A Missense p.P338T c.1012C>A 1 173842693 HNSC C A Missense p.Q415K c.1243C>A 1 173854993 RCCC C A Missense p.S85Y c.254C>A 1 173839617 OV C G Missense p.I184M c.552C>G 1 173839915 UCEC C G Missense p.L212V c.634C>G 1 173839997 BLCA C G Synonymous p.S54S c.162C>G 1 173839525 RCCC C T Missense p.R232W c.694C>T 1 173840057 GBM C T Missense p.R26C c.76C>T 1 173839439 PRAD C T Missense p.R365W c.1093C>T 1 173854843 UCEC C T Missense p.S72L c.215C>T 1 173839578 BLCA C T Nonsense p.Q197* c.589C>T 1 173839952 BLCA C T Synonymous p.I198I c.594C>T 1 173839957 BLCA G A Synonymous p.L182L c.546G>A 1 173839909 CM G T Missense p.G90W c.268G>T 1 173839631 SCLC T A Missense p.V402D c.1205T>A 1 173854955 RCCC T C Missense p.S62P c.184T>C 1 173839547 UCEC T C Synonymous p.G4G c.12T>C 1 173839375 HNSC