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 5 72865329 72865329 + Missense_Mutation SNP C C T TCGA-GD-A76B-01A-11D-A32B-08 TCGA-GD-A76B-10A-01D-A329-08 g.chr5:72865329C>T c.376C>T c.(376-378)Cat>Tat p.H126Y BLCA 5 72875896 72875896 + Missense_Mutation SNP G G C TCGA-XF-A9SL-01A-11D-A391-08 TCGA-XF-A9SL-10A-01D-A394-08 g.chr5:72875896G>C c.1534G>C c.(1534-1536)Gag>Cag p.E512Q BRCA 5 72865429 72865429 + Missense_Mutation SNP C C T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 g.chr5:72865429C>T c.476C>T c.(475-477)aCa>aTa p.T159I BRCA 5 72866464 72866464 + Missense_Mutation SNP C C A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr5:72866464C>A c.601C>A c.(601-603)Ctc>Atc p.L201I BRCA 5 72875844 72875844 + Missense_Mutation SNP G G A TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 g.chr5:72875844G>A c.1482G>A c.(1480-1482)atG>atA p.M494I CHOL 5 72874933 72874933 + Missense_Mutation SNP G G T TCGA-W5-AA2H-01A-31D-A417-09 TCGA-W5-AA2H-10A-01D-A41A-09 g.chr5:72874933G>T c.1238G>T c.(1237-1239)cGg>cTg p.R413L COAD 5 72863199 72863199 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr5:72863199G>T c.30G>T c.(28-30)caG>caT p.Q10H COAD 5 72864281 72864281 + Missense_Mutation SNP A A C TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr5:72864281A>C c.220A>C c.(220-222)Aaa>Caa p.K74Q COAD 5 72864291 72864291 + Missense_Mutation SNP C C A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr5:72864291C>A c.230C>A c.(229-231)tCt>tAt p.S77Y COAD 5 72873708 72873708 + Missense_Mutation SNP A A G TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chr5:72873708A>G c.922A>G c.(922-924)Atg>Gtg p.M308V COADREAD 5 72863199 72863199 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr5:72863199G>T c.30G>T c.(28-30)caG>caT p.Q10H COADREAD 5 72864281 72864281 + Missense_Mutation SNP A A C TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr5:72864281A>C c.220A>C c.(220-222)Aaa>Caa p.K74Q COADREAD 5 72864291 72864291 + Missense_Mutation SNP C C A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr5:72864291C>A c.230C>A c.(229-231)tCt>tAt p.S77Y COADREAD 5 72873708 72873708 + Missense_Mutation SNP A A G TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chr5:72873708A>G c.922A>G c.(922-924)Atg>Gtg p.M308V GBM 5 72864347 72864347 + Missense_Mutation SNP G G A TCGA-06-0140-01A-01D-1490-08 TCGA-06-0140-10A-01D-1490-08 g.chr5:72864347G>A c.286G>A c.(286-288)Gtg>Atg p.V96M GBM 5 72866479 72866480 + Nonsense_Mutation DNP GG GG TA TCGA-76-4926-01B-01D-1486-08 TCGA-76-4926-10A-01D-1486-08 g.chr5:72866479_72866480GG>TA c.616_617GG>TA c.(616-618)GGg>TAg p.G206* GBMLGG 5 72864347 72864347 + Missense_Mutation SNP G G A TCGA-06-0140-01A-01D-1490-08 TCGA-06-0140-10A-01D-1490-08 g.chr5:72864347G>A c.286G>A c.(286-288)Gtg>Atg p.V96M GBMLGG 5 72866466 72866466 + Silent SNP C C G TCGA-W9-A837-01A-11D-A36O-08 TCGA-W9-A837-10A-01D-A367-08 g.chr5:72866466C>G c.603C>G c.(601-603)ctC>ctG p.L201L GBMLGG 5 72866479 72866480 + Nonsense_Mutation DNP GG GG TA TCGA-76-4926-01B-01D-1486-08 TCGA-76-4926-10A-01D-1486-08 g.chr5:72866479_72866480GG>TA c.616_617GG>TA c.(616-618)GGg>TAg p.G206* HNSC 5 72863173 72863173 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr5:72863173G>A c.4G>A c.(4-6)Gct>Act p.A2T HNSC 5 72868354 72868354 + Silent SNP A A T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr5:72868354A>T c.714A>T c.(712-714)ggA>ggT p.G238G HNSC 5 72875907 72875907 + Missense_Mutation SNP G G T TCGA-D6-A4ZB-01A-11D-A25D-08 TCGA-D6-A4ZB-10A-01D-A25E-08 g.chr5:72875907G>T c.1545G>T c.(1543-1545)aaG>aaT p.K515N KIPAN 5 72864335 72864335 + Missense_Mutation SNP G G A TCGA-B0-4712-01A-01D-1501-10 TCGA-B0-4712-11A-02D-1501-10 g.chr5:72864335G>A c.274G>A c.(274-276)Ggt>Agt p.G92S KIPAN 5 72864379 72864379 + Silent SNP T T A TCGA-HE-A5NK-01A-11D-A26P-10 TCGA-HE-A5NK-10A-01D-A26P-10 g.chr5:72864379T>A c.318T>A c.(316-318)ctT>ctA p.L106L KIRC 5 72864335 72864335 + Missense_Mutation SNP G G A TCGA-B0-4712-01A-01D-1501-10 TCGA-B0-4712-11A-02D-1501-10 g.chr5:72864335G>A c.274G>A c.(274-276)Ggt>Agt p.G92S KIRP 5 72864379 72864379 + Silent SNP T T A TCGA-HE-A5NK-01A-11D-A26P-10 TCGA-HE-A5NK-10A-01D-A26P-10 g.chr5:72864379T>A c.318T>A c.(316-318)ctT>ctA p.L106L LGG 5 72866466 72866466 + Silent SNP C C G TCGA-W9-A837-01A-11D-A36O-08 TCGA-W9-A837-10A-01D-A367-08 g.chr5:72866466C>G c.603C>G c.(601-603)ctC>ctG p.L201L LIHC 5 72864105 72864105 + Frame_Shift_Del DEL T T - TCGA-DD-A3A0-01A-11D-A20W-10 TCGA-DD-A3A0-11A-11D-A20W-10 g.chr5:72864105delT c.136delT c.(136-138)tttfs p.F46fs LIHC 5 72864403 72864403 + Silent SNP C C T TCGA-4R-AA8I-01A-11D-A382-10 TCGA-4R-AA8I-10B-01D-A385-10 g.chr5:72864403C>T c.342C>T c.(340-342)ccC>ccT p.P114P LIHC 5 72866457 72866457 + Missense_Mutation SNP G G T TCGA-DD-A11D-01A-11D-A12Z-10 TCGA-DD-A11D-11A-12D-A12Z-10 g.chr5:72866457G>T c.594G>T c.(592-594)gaG>gaT p.E198D LIHC 5 72868323 72868323 + Missense_Mutation SNP A A G TCGA-CC-A7IH-01A-11D-A33K-10 TCGA-CC-A7IH-10A-01D-A33K-10 g.chr5:72868323A>G c.683A>G c.(682-684)tAt>tGt p.Y228C LIHC 5 72874641 72874641 + Frame_Shift_Del DEL T T - TCGA-DD-A3A0-01A-11D-A20W-10 TCGA-DD-A3A0-11A-11D-A20W-10 g.chr5:72874641delT c.1110delT c.(1108-1110)catfs p.H370fs LIHC 5 72874667 72874667 + Missense_Mutation SNP G G T TCGA-DD-A4ND-01A-11D-A25V-10 TCGA-DD-A4ND-11A-11D-A25V-10 g.chr5:72874667G>T c.1136G>T c.(1135-1137)aGa>aTa p.R379I LUAD 5 72863231 72863231 + Missense_Mutation SNP A A T TCGA-05-4430-01A-02D-1265-08 TCGA-05-4430-10A-01D-1265-08 g.chr5:72863231A>T c.62A>T c.(61-63)cAa>cTa p.Q21L LUAD 5 72865490 72865490 + Silent SNP C C G TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 g.chr5:72865490C>G c.537C>G c.(535-537)ctC>ctG p.L179L LUAD 5 72873801 72873801 + Missense_Mutation SNP A A G TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 g.chr5:72873801A>G c.1015A>G c.(1015-1017)Att>Gtt p.I339V LUAD 5 72874903 72874903 + Missense_Mutation SNP G G C TCGA-75-6214-01A-41D-1945-08 TCGA-75-6214-10A-01D-1946-08 g.chr5:72874903G>C c.1208G>C c.(1207-1209)aGa>aCa p.R403T LUAD 5 72875739 72875739 + Silent SNP T T A TCGA-50-5045-01A-01D-1625-08 TCGA-50-5045-10A-01D-1625-08 g.chr5:72875739T>A c.1377T>A c.(1375-1377)gtT>gtA p.V459V LUAD 5 72875896 72875896 + Nonsense_Mutation SNP G G T TCGA-95-7039-01A-11D-1945-08 TCGA-95-7039-10A-01D-1946-08 g.chr5:72875896G>T c.1534G>T c.(1534-1536)Gag>Tag p.E512* LUSC 5 72864310 72864310 + Silent SNP A A G TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 g.chr5:72864310A>G c.249A>G c.(247-249)gcA>gcG p.A83A LUSC 5 72866451 72866451 + Silent SNP G G A TCGA-66-2773-01A-01D-1267-08 TCGA-66-2773-11A-01D-1267-08 g.chr5:72866451G>A c.588G>A c.(586-588)acG>acA p.T196T LUSC 5 72872776 72872776 + Splice_Site SNP G G T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 g.chr5:72872776G>T c.e8-1 LUSC 5 72873704 72873704 + Silent SNP A A G TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 g.chr5:72873704A>G c.918A>G c.(916-918)gtA>gtG p.V306V PAAD 5 72875701 72875701 + Splice_Site SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr5:72875701G>T c.e13-1 PRAD 5 72865483 72865483 + Missense_Mutation SNP C C T TCGA-EJ-A46I-01A-12D-A26M-08 TCGA-EJ-A46I-10A-01D-A26K-08 g.chr5:72865483C>T c.530C>T c.(529-531)cCg>cTg p.P177L PRAD 5 72866487 72866502 + Frame_Shift_Del DEL AGTGGAGAGTGTCCTA AGTGGAGAGTGTCCTA - TCGA-HC-8265-01A-11D-2260-08 TCGA-HC-8265-10A-01D-2260-08 g.chr5:72866487_72866502delAGTGGAGAGTGTCCTA c.624_639delAGTGGAGAGTGTCCTA c.(622-639)ccagtggagagtgtcctafs p.PVESVL208fs SKCM 5 72866468 72866468 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr5:72866468C>T c.605C>T c.(604-606)tCc>tTc p.S202F SKCM 5 72873745 72873745 + Missense_Mutation SNP C C T TCGA-EE-A2M5-06A-12D-A197-08 TCGA-EE-A2M5-10A-01D-A199-08 g.chr5:72873745C>T c.959C>T c.(958-960)tCt>tTt p.S320F SKCM 5 72874889 72874889 + Silent SNP G G A TCGA-EE-A3AA-06A-11D-A196-08 TCGA-EE-A3AA-10A-01D-A198-08 g.chr5:72874889G>A c.1194G>A c.(1192-1194)aaG>aaA p.K398K

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 5 72856967 72856967 single base substitution G C upstream_gene_variant BOCA-FR 5 72876077 72876077 single base substitution G A 3_prime_UTR_variant BOCA-FR 5 72876077 72876077 single base substitution G A downstream_gene_variant BRCA-EU 5 72857104 72857104 single base substitution T C upstream_gene_variant BRCA-EU 5 72858430 72858430 single base substitution C G upstream_gene_variant BRCA-EU 5 72859147 72859147 single base substitution G C upstream_gene_variant BRCA-EU 5 72860569 72860569 single base substitution T C upstream_gene_variant BRCA-EU 5 72861032 72861032 single base substitution A G upstream_gene_variant BRCA-EU 5 72861546 72861546 single base substitution A T 5_prime_UTR_variant BRCA-EU 5 72861546 72861546 single base substitution A T upstream_gene_variant BRCA-EU 5 72862092 72862092 single base substitution G A intron_variant BRCA-EU 5 72862431 72862431 single base substitution G A intron_variant BRCA-EU 5 72865226 72865226 deletion of <=200bp T - downstream_gene_variant BRCA-EU 5 72865226 72865226 deletion of <=200bp T - intron_variant BRCA-EU 5 72865226 72865226 deletion of <=200bp T - upstream_gene_variant BRCA-EU 5 72865424 72865424 single base substitution T C 5_prime_UTR_variant BRCA-EU 5 72865424 72865424 single base substitution T C downstream_gene_variant BRCA-EU 5 72865424 72865424 single base substitution T C synonymous_variant I138I 414T>C BRCA-EU 5 72865424 72865424 single base substitution T C synonymous_variant I157I 471T>C BRCA-EU 5 72865424 72865424 single base substitution T C synonymous_variant I183I 549T>C BRCA-EU 5 72865424 72865424 single base substitution T C upstream_gene_variant BRCA-EU 5 72865989 72865989 single base substitution T C downstream_gene_variant BRCA-EU 5 72865989 72865989 single base substitution T C intron_variant BRCA-EU 5 72865989 72865989 single base substitution T C upstream_gene_variant BRCA-EU 5 72866630 72866630 single base substitution G C downstream_gene_variant BRCA-EU 5 72866630 72866630 single base substitution G C intron_variant BRCA-EU 5 72866630 72866630 single base substitution G C upstream_gene_variant BRCA-EU 5 72866654 72866654 single base substitution C G downstream_gene_variant BRCA-EU 5 72866654 72866654 single base substitution C G intron_variant BRCA-EU 5 72866654 72866654 single base substitution C G upstream_gene_variant BRCA-EU 5 72866959 72866959 single base substitution A G downstream_gene_variant BRCA-EU 5 72866959 72866959 single base substitution A G intron_variant BRCA-EU 5 72866959 72866959 single base substitution A G upstream_gene_variant BRCA-EU 5 72867224 72867224 single base substitution G A downstream_gene_variant BRCA-EU 5 72867224 72867224 single base substitution G A intron_variant BRCA-EU 5 72867224 72867224 single base substitution G A upstream_gene_variant BRCA-EU 5 72867866 72867866 single base substitution T G downstream_gene_variant BRCA-EU 5 72867866 72867866 single base substitution T G intron_variant BRCA-EU 5 72867866 72867866 single base substitution T G upstream_gene_variant BRCA-EU 5 72867871 72867871 single base substitution T A downstream_gene_variant BRCA-EU 5 72867871 72867871 single base substitution T A intron_variant BRCA-EU 5 72867871 72867871 single base substitution T A upstream_gene_variant BRCA-EU 5 72867969 72867969 single base substitution C T downstream_gene_variant BRCA-EU 5 72867969 72867969 single base substitution C T intron_variant BRCA-EU 5 72867969 72867969 single base substitution C T upstream_gene_variant BRCA-EU 5 72869583 72869583 single base substitution G C intron_variant BRCA-EU 5 72874707 72874707 single base substitution T A downstream_gene_variant BRCA-EU 5 72874707 72874707 single base substitution T A intron_variant BRCA-EU 5 72875152 72875152 single base substitution C G downstream_gene_variant BRCA-EU 5 72875152 72875152 single base substitution C G missense_variant Q241E 721C>G BRCA-EU 5 72875152 72875152 single base substitution C G missense_variant Q412E 1234C>G BRCA-EU 5 72875152 72875152 single base substitution C G missense_variant Q431E 1291C>G BRCA-EU 5 72875152 72875152 single base substitution C G missense_variant Q457E 1369C>G BRCA-EU 5 72875996 72875996 single base substitution C G 3_prime_UTR_variant BRCA-EU 5 72875996 72875996 single base substitution C G downstream_gene_variant BRCA-EU 5 72876128 72876128 single base substitution C T 3_prime_UTR_variant BRCA-EU 5 72876128 72876128 single base substitution C T downstream_gene_variant BRCA-EU 5 72876646 72876646 single base substitution G C 3_prime_UTR_variant BRCA-EU 5 72876646 72876646 single base substitution G C downstream_gene_variant BRCA-EU 5 72877187 72877187 insertion of <=200bp - T 3_prime_UTR_variant BRCA-EU 5 72877187 72877187 insertion of <=200bp - T downstream_gene_variant BRCA-EU 5 72877375 72877375 single base substitution A G 3_prime_UTR_variant BRCA-EU 5 72877375 72877375 single base substitution A G downstream_gene_variant BRCA-EU 5 72877435 72877435 insertion of <=200bp - T 3_prime_UTR_variant BRCA-EU 5 72877435 72877435 insertion of <=200bp - T downstream_gene_variant BRCA-EU 5 72877453 72877453 deletion of <=200bp T - 3_prime_UTR_variant BRCA-EU 5 72877453 72877453 deletion of <=200bp T - downstream_gene_variant BRCA-EU 5 72878447 72878447 single base substitution C T downstream_gene_variant BRCA-EU 5 72881636 72881636 single base substitution G A downstream_gene_variant BRCA-FR 5 72862431 72862431 single base substitution G A intron_variant BRCA-FR 5 72867866 72867866 single base substitution T G downstream_gene_variant BRCA-FR 5 72867866 72867866 single base substitution T G intron_variant BRCA-FR 5 72867866 72867866 single base substitution T G upstream_gene_variant BRCA-FR 5 72874039 72874039 single base substitution C T exon_variant BRCA-FR 5 72874039 72874039 single base substitution C T intron_variant BRCA-FR 5 72875152 72875152 single base substitution C G downstream_gene_variant BRCA-FR 5 72875152 72875152 single base substitution C G missense_variant Q241E 721C>G BRCA-FR 5 72875152 72875152 single base substitution C G missense_variant Q412E 1234C>G BRCA-FR 5 72875152 72875152 single base substitution C G missense_variant Q431E 1291C>G BRCA-FR 5 72875152 72875152 single base substitution C G missense_variant Q457E 1369C>G BRCA-FR 5 72876128 72876128 single base substitution C T 3_prime_UTR_variant BRCA-FR 5 72876128 72876128 single base substitution C T downstream_gene_variant BRCA-UK 5 72861032 72861032 single base substitution A G upstream_gene_variant BRCA-UK 5 72863482 72863482 single base substitution G C downstream_gene_variant BRCA-UK 5 72863482 72863482 single base substitution G C exon_variant BRCA-UK 5 72863482 72863482 single base substitution G C intron_variant BRCA-UK 5 72863482 72863482 single base substitution G C upstream_gene_variant BRCA-US 5 72858604 72858604 single base substitution G A upstream_gene_variant BRCA-US 5 72865429 72865429 single base substitution C T 5_prime_UTR_variant BRCA-US 5 72865429 72865429 single base substitution C T downstream_gene_variant BRCA-US 5 72865429 72865429 single base substitution C T missense_variant T140I 419C>T BRCA-US 5 72865429 72865429 single base substitution C T missense_variant T159I 476C>T BRCA-US 5 72865429 72865429 single base substitution C T missense_variant T185I 554C>T BRCA-US 5 72865429 72865429 single base substitution C T upstream_gene_variant BRCA-US 5 72866464 72866464 single base substitution C A downstream_gene_variant BRCA-US 5 72866464 72866464 single base substitution C A missense_variant L11I 31C>A BRCA-US 5 72866464 72866464 single base substitution C A missense_variant L182I 544C>A BRCA-US 5 72866464 72866464 single base substitution C A missense_variant L201I 601C>A BRCA-US 5 72866464 72866464 single base substitution C A missense_variant L227I 679C>A BRCA-US 5 72866464 72866464 single base substitution C A upstream_gene_variant BTCA-JP 5 72873981 72873981 single base substitution A C exon_variant BTCA-JP 5 72873981 72873981 single base substitution A C intron_variant BTCA-JP 5 72874791 72874791 deletion of <=200bp T - downstream_gene_variant BTCA-JP 5 72874791 72874791 deletion of <=200bp T - intron_variant COAD-US 5 72857086 72857086 single base substitution G A upstream_gene_variant COAD-US 5 72864281 72864281 single base substitution A C 5_prime_UTR_variant COAD-US 5 72864281 72864281 single base substitution A C downstream_gene_variant COAD-US 5 72864281 72864281 single base substitution A C missense_variant K100Q 298A>C COAD-US 5 72864281 72864281 single base substitution A C missense_variant K55Q 163A>C COAD-US 5 72864281 72864281 single base substitution A C missense_variant K74Q 220A>C COAD-US 5 72864281 72864281 single base substitution A C upstream_gene_variant COAD-US 5 72868447 72868447 single base substitution T C downstream_gene_variant COAD-US 5 72868447 72868447 single base substitution T C splice_region_variant COCA-CN 5 72856985 72856985 single base substitution C A upstream_gene_variant COCA-CN 5 72858747 72858747 single base substitution G T upstream_gene_variant COCA-CN 5 72865592 72865592 single base substitution A C downstream_gene_variant COCA-CN 5 72865592 72865592 single base substitution A C intron_variant COCA-CN 5 72865592 72865592 single base substitution A C upstream_gene_variant COCA-CN 5 72865628 72865628 single base substitution C A downstream_gene_variant COCA-CN 5 72865628 72865628 single base substitution C A intron_variant COCA-CN 5 72865628 72865628 single base substitution C A upstream_gene_variant COCA-CN 5 72868429 72868429 single base substitution A T downstream_gene_variant COCA-CN 5 72868429 72868429 single base substitution A T exon_variant COCA-CN 5 72868429 72868429 single base substitution A T missense_variant L244F 732A>T COCA-CN 5 72868429 72868429 single base substitution A T missense_variant L263F 789A>T COCA-CN 5 72868429 72868429 single base substitution A T missense_variant L289F 867A>T COCA-CN 5 72868429 72868429 single base substitution A T missense_variant L73F 219A>T COCA-CN 5 72868496 72868496 single base substitution T G downstream_gene_variant COCA-CN 5 72868496 72868496 single base substitution T G intron_variant COCA-CN 5 72872770 72872770 single base substitution T G splice_region_variant COCA-CN 5 72873638 72873638 single base substitution A G intron_variant COCA-CN 5 72875864 72875864 single base substitution C A downstream_gene_variant COCA-CN 5 72875864 72875864 single base substitution C A missense_variant S311Y 932C>A COCA-CN 5 72875864 72875864 single base substitution C A missense_variant S482Y 1445C>A COCA-CN 5 72875864 72875864 single base substitution C A missense_variant S501Y 1502C>A COCA-CN 5 72875864 72875864 single base substitution C A missense_variant S527Y 1580C>A COCA-CN 5 72877581 72877581 single base substitution A T 3_prime_UTR_variant COCA-CN 5 72877581 72877581 single base substitution A T downstream_gene_variant ESAD-UK 5 72857085 72857087 deletion of <=200bp AGA - upstream_gene_variant ESAD-UK 5 72858214 72858214 single base substitution A T upstream_gene_variant ESAD-UK 5 72858307 72858307 deletion of <=200bp A - upstream_gene_variant ESAD-UK 5 72859811 72859811 single base substitution T G upstream_gene_variant ESAD-UK 5 72861349 72861349 deletion of <=200bp T - 5_prime_UTR_variant ESAD-UK 5 72861349 72861349 deletion of <=200bp T - upstream_gene_variant ESAD-UK 5 72864194 72864194 single base substitution T G downstream_gene_variant ESAD-UK 5 72864194 72864194 single base substitution T G intron_variant ESAD-UK 5 72864194 72864194 single base substitution T G upstream_gene_variant ESAD-UK 5 72870258 72870258 single base substitution G A intron_variant ESAD-UK 5 72871953 72871953 single base substitution A G intron_variant ESAD-UK 5 72876590 72876590 single base substitution T G 3_prime_UTR_variant ESAD-UK 5 72876590 72876590 single base substitution T G downstream_gene_variant ESAD-UK 5 72876733 72876733 single base substitution T C 3_prime_UTR_variant ESAD-UK 5 72876733 72876733 single base substitution T C downstream_gene_variant ESAD-UK 5 72880069 72880069 single base substitution A T downstream_gene_variant ESAD-UK 5 72881304 72881304 single base substitution C T downstream_gene_variant ESCA-CN 5 72865103 72865103 insertion of <=200bp - T downstream_gene_variant ESCA-CN 5 72865103 72865103 insertion of <=200bp - T intron_variant ESCA-CN 5 72865103 72865103 insertion of <=200bp - T upstream_gene_variant ESCA-CN 5 72865436 72865436 single base substitution A G 5_prime_UTR_variant ESCA-CN 5 72865436 72865436 single base substitution A G downstream_gene_variant ESCA-CN 5 72865436 72865436 single base substitution A G synonymous_variant K142K 426A>G ESCA-CN 5 72865436 72865436 single base substitution A G synonymous_variant K161K 483A>G ESCA-CN 5 72865436 72865436 single base substitution A G synonymous_variant K187K 561A>G ESCA-CN 5 72865436 72865436 single base substitution A G upstream_gene_variant GBM-US 5 72857050 72857050 single base substitution G A upstream_gene_variant GBM-US 5 72864347 72864347 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant GBM-US 5 72864347 72864347 single base substitution G A downstream_gene_variant GBM-US 5 72864347 72864347 single base substitution G A missense_variant V122M 364G>A GBM-US 5 72864347 72864347 single base substitution G A missense_variant V77M 229G>A GBM-US 5 72864347 72864347 single base substitution G A missense_variant V96M 286G>A GBM-US 5 72864347 72864347 single base substitution G A upstream_gene_variant KIRC-US 5 72864335 72864335 single base substitution G A 5_prime_UTR_variant KIRC-US 5 72864335 72864335 single base substitution G A downstream_gene_variant KIRC-US 5 72864335 72864335 single base substitution G A missense_variant G118S 352G>A KIRC-US 5 72864335 72864335 single base substitution G A missense_variant G73S 217G>A KIRC-US 5 72864335 72864335 single base substitution G A missense_variant G92S 274G>A KIRC-US 5 72864335 72864335 single base substitution G A upstream_gene_variant KIRP-US 5 72864379 72864379 single base substitution T A 5_prime_UTR_variant KIRP-US 5 72864379 72864379 single base substitution T A downstream_gene_variant KIRP-US 5 72864379 72864379 single base substitution T A synonymous_variant L106L 318T>A KIRP-US 5 72864379 72864379 single base substitution T A synonymous_variant L132L 396T>A KIRP-US 5 72864379 72864379 single base substitution T A synonymous_variant L87L 261T>A KIRP-US 5 72864379 72864379 single base substitution T A upstream_gene_variant LICA-FR 5 72857198 72857198 single base substitution A G upstream_gene_variant LICA-FR 5 72864359 72864359 single base substitution G A 5_prime_UTR_variant LICA-FR 5 72864359 72864359 single base substitution G A downstream_gene_variant LICA-FR 5 72864359 72864359 single base substitution G A missense_variant E100K 298G>A LICA-FR 5 72864359 72864359 single base substitution G A missense_variant E126K 376G>A LICA-FR 5 72864359 72864359 single base substitution G A missense_variant E81K 241G>A LICA-FR 5 72864359 72864359 single base substitution G A upstream_gene_variant LICA-FR 5 72872099 72872099 single base substitution T C intron_variant LICA-FR 5 72875754 72875754 single base substitution A G downstream_gene_variant LICA-FR 5 72875754 72875754 single base substitution A G synonymous_variant L274L 822A>G LICA-FR 5 72875754 72875754 single base substitution A G synonymous_variant L445L 1335A>G LICA-FR 5 72875754 72875754 single base substitution A G synonymous_variant L464L 1392A>G LICA-FR 5 72875754 72875754 single base substitution A G synonymous_variant L490L 1470A>G LIHC-US 5 72857022 72857022 single base substitution T C upstream_gene_variant LIHC-US 5 72866457 72866457 single base substitution G T downstream_gene_variant LIHC-US 5 72866457 72866457 single base substitution G T missense_variant E179D 537G>T LIHC-US 5 72866457 72866457 single base substitution G T missense_variant E198D 594G>T LIHC-US 5 72866457 72866457 single base substitution G T missense_variant E224D 672G>T LIHC-US 5 72866457 72866457 single base substitution G T missense_variant E8D 24G>T LIHC-US 5 72866457 72866457 single base substitution G T upstream_gene_variant LIHC-US 5 72868323 72868323 single base substitution A G downstream_gene_variant LIHC-US 5 72868323 72868323 single base substitution A G exon_variant LIHC-US 5 72868323 72868323 single base substitution A G missense_variant Y209C 626A>G LIHC-US 5 72868323 72868323 single base substitution A G missense_variant Y228C 683A>G LIHC-US 5 72868323 72868323 single base substitution A G missense_variant Y254C 761A>G LIHC-US 5 72868323 72868323 single base substitution A G missense_variant Y38C 113A>G LIHC-US 5 72874667 72874667 single base substitution G T downstream_gene_variant LIHC-US 5 72874667 72874667 single base substitution G T missense_variant R189I 566G>T LIHC-US 5 72874667 72874667 single base substitution G T missense_variant R360I 1079G>T LIHC-US 5 72874667 72874667 single base substitution G T missense_variant R379I 1136G>T LIHC-US 5 72874667 72874667 single base substitution G T missense_variant R405I 1214G>T LINC-JP 5 72862395 72862395 single base substitution A G intron_variant LINC-JP 5 72866473 72866473 single base substitution G C downstream_gene_variant LINC-JP 5 72866473 72866473 single base substitution G C missense_variant E14Q 40G>C LINC-JP 5 72866473 72866473 single base substitution G C missense_variant E185Q 553G>C LINC-JP 5 72866473 72866473 single base substitution G C missense_variant E204Q 610G>C LINC-JP 5 72866473 72866473 single base substitution G C missense_variant E230Q 688G>C LINC-JP 5 72866473 72866473 single base substitution G C upstream_gene_variant LINC-JP 5 72880119 72880119 single base substitution A T downstream_gene_variant LINC-JP 5 72880624 72880624 single base substitution A G downstream_gene_variant LIRI-JP 5 72856710 72856710 single base substitution G C upstream_gene_variant LIRI-JP 5 72856980 72856980 single base substitution G A upstream_gene_variant LIRI-JP 5 72857174 72857174 single base substitution T C upstream_gene_variant LIRI-JP 5 72861083 72861083 single base substitution A C upstream_gene_variant LIRI-JP 5 72861831 72861831 single base substitution T C 5_prime_UTR_variant LIRI-JP 5 72861831 72861831 single base substitution T C intron_variant LIRI-JP 5 72862258 72862258 single base substitution T G intron_variant LIRI-JP 5 72862877 72862877 single base substitution C G intron_variant LIRI-JP 5 72864408 72864408 single base substitution G A 5_prime_UTR_variant LIRI-JP 5 72864408 72864408 single base substitution G A downstream_gene_variant LIRI-JP 5 72864408 72864408 single base substitution G A missense_variant R116K 347G>A LIRI-JP 5 72864408 72864408 single base substitution G A missense_variant R142K 425G>A LIRI-JP 5 72864408 72864408 single base substitution G A missense_variant R97K 290G>A LIRI-JP 5 72864408 72864408 single base substitution G A upstream_gene_variant LIRI-JP 5 72864770 72864770 single base substitution T C downstream_gene_variant LIRI-JP 5 72864770 72864770 single base substitution T C intron_variant LIRI-JP 5 72864770 72864770 single base substitution T C upstream_gene_variant LIRI-JP 5 72865183 72865183 single base substitution T G downstream_gene_variant LIRI-JP 5 72865183 72865183 single base substitution T G intron_variant LIRI-JP 5 72865183 72865183 single base substitution T G upstream_gene_variant LIRI-JP 5 72865563 72865563 single base substitution A G downstream_gene_variant LIRI-JP 5 72865563 72865563 single base substitution A G intron_variant LIRI-JP 5 72865563 72865563 single base substitution A G upstream_gene_variant LIRI-JP 5 72868508 72868508 single base substitution G A downstream_gene_variant LIRI-JP 5 72868508 72868508 single base substitution G A intron_variant LIRI-JP 5 72870837 72870837 single base substitution C T intron_variant LIRI-JP 5 72871393 72871393 single base substitution A G intron_variant LIRI-JP 5 72875831 72875831 single base substitution T G downstream_gene_variant LIRI-JP 5 72875831 72875831 single base substitution T G missense_variant L300R 899T>G LIRI-JP 5 72875831 72875831 single base substitution T G missense_variant L471R 1412T>G LIRI-JP 5 72875831 72875831 single base substitution T G missense_variant L490R 1469T>G LIRI-JP 5 72875831 72875831 single base substitution T G missense_variant L516R 1547T>G LIRI-JP 5 72876705 72876705 single base substitution C G 3_prime_UTR_variant LIRI-JP 5 72876705 72876705 single base substitution C G downstream_gene_variant LIRI-JP 5 72879355 72879355 single base substitution A G downstream_gene_variant LIRI-JP 5 72880094 72880094 single base substitution A G downstream_gene_variant LIRI-JP 5 72880525 72880525 single base substitution A G downstream_gene_variant LIRI-JP 5 72882514 72882514 single base substitution A G downstream_gene_variant LUSC-KR 5 72861764 72861764 single base substitution G T 5_prime_UTR_variant LUSC-KR 5 72861764 72861764 single base substitution G T intron_variant LUSC-KR 5 72876476 72876476 single base substitution C T 3_prime_UTR_variant LUSC-KR 5 72876476 72876476 single base substitution C T downstream_gene_variant LUSC-KR 5 72882610 72882610 single base substitution G T downstream_gene_variant LUSC-US 5 72864310 72864310 single base substitution A G 5_prime_UTR_variant LUSC-US 5 72864310 72864310 single base substitution A G downstream_gene_variant LUSC-US 5 72864310 72864310 single base substitution A G synonymous_variant A109A 327A>G LUSC-US 5 72864310 72864310 single base substitution A G synonymous_variant A64A 192A>G LUSC-US 5 72864310 72864310 single base substitution A G synonymous_variant A83A 249A>G LUSC-US 5 72864310 72864310 single base substitution A G upstream_gene_variant LUSC-US 5 72866451 72866451 single base substitution G A downstream_gene_variant LUSC-US 5 72866451 72866451 single base substitution G A synonymous_variant T177T 531G>A LUSC-US 5 72866451 72866451 single base substitution G A synonymous_variant T196T 588G>A LUSC-US 5 72866451 72866451 single base substitution G A synonymous_variant T222T 666G>A LUSC-US 5 72866451 72866451 single base substitution G A synonymous_variant T6T 18G>A LUSC-US 5 72866451 72866451 single base substitution G A upstream_gene_variant LUSC-US 5 72872776 72872776 single base substitution G T splice_acceptor_variant LUSC-US 5 72873704 72873704 single base substitution A G exon_variant LUSC-US 5 72873704 72873704 single base substitution A G synonymous_variant V116V 348A>G LUSC-US 5 72873704 72873704 single base substitution A G synonymous_variant V287V 861A>G LUSC-US 5 72873704 72873704 single base substitution A G synonymous_variant V306V 918A>G LUSC-US 5 72873704 72873704 single base substitution A G synonymous_variant V332V 996A>G MALY-DE 5 72859908 72859908 single base substitution T C upstream_gene_variant MALY-DE 5 72865592 72865592 single base substitution A C downstream_gene_variant MALY-DE 5 72865592 72865592 single base substitution A C intron_variant MALY-DE 5 72865592 72865592 single base substitution A C upstream_gene_variant MALY-DE 5 72881591 72881591 single base substitution A C downstream_gene_variant MELA-AU 5 72856382 72856382 single base substitution T C upstream_gene_variant MELA-AU 5 72857486 72857486 single base substitution G A upstream_gene_variant MELA-AU 5 72858002 72858002 single base substitution C G upstream_gene_variant MELA-AU 5 72858094 72858094 single base substitution G A upstream_gene_variant MELA-AU 5 72858202 72858202 single base substitution C T upstream_gene_variant MELA-AU 5 72858594 72858595 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 5 72859246 72859254 deletion of <=200bp TCTTTAATA - upstream_gene_variant MELA-AU 5 72860712 72860712 single base substitution G T upstream_gene_variant MELA-AU 5 72861260 72861260 single base substitution C T upstream_gene_variant MELA-AU 5 72862143 72862143 single base substitution G A intron_variant MELA-AU 5 72862328 72862328 single base substitution C T intron_variant MELA-AU 5 72862939 72862940 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 72863154 72863154 single base substitution G T 5_prime_UTR_variant MELA-AU 5 72863154 72863154 single base substitution G T exon_variant MELA-AU 5 72863154 72863154 single base substitution G T intron_variant MELA-AU 5 72864120 72864120 single base substitution C T 5_prime_UTR_variant MELA-AU 5 72864120 72864120 single base substitution C T downstream_gene_variant MELA-AU 5 72864120 72864120 single base substitution C T missense_variant P32S 94C>T MELA-AU 5 72864120 72864120 single base substitution C T missense_variant P51S 151C>T MELA-AU 5 72864120 72864120 single base substitution C T missense_variant P77S 229C>T MELA-AU 5 72864120 72864120 single base substitution C T upstream_gene_variant MELA-AU 5 72864798 72864798 single base substitution T A downstream_gene_variant MELA-AU 5 72864798 72864798 single base substitution T A intron_variant MELA-AU 5 72864798 72864798 single base substitution T A upstream_gene_variant MELA-AU 5 72864833 72864833 deletion of <=200bp G - downstream_gene_variant MELA-AU 5 72864833 72864833 deletion of <=200bp G - intron_variant MELA-AU 5 72864833 72864833 deletion of <=200bp G - upstream_gene_variant MELA-AU 5 72864870 72864870 single base substitution C T downstream_gene_variant MELA-AU 5 72864870 72864870 single base substitution C T intron_variant MELA-AU 5 72864870 72864870 single base substitution C T upstream_gene_variant MELA-AU 5 72865175 72865175 single base substitution T A downstream_gene_variant MELA-AU 5 72865175 72865175 single base substitution T A intron_variant MELA-AU 5 72865175 72865175 single base substitution T A upstream_gene_variant MELA-AU 5 72865329 72865329 single base substitution C T 5_prime_UTR_variant MELA-AU 5 72865329 72865329 single base substitution C T downstream_gene_variant MELA-AU 5 72865329 72865329 single base substitution C T missense_variant H107Y 319C>T MELA-AU 5 72865329 72865329 single base substitution C T missense_variant H126Y 376C>T MELA-AU 5 72865329 72865329 single base substitution C T missense_variant H152Y 454C>T MELA-AU 5 72865329 72865329 single base substitution C T upstream_gene_variant MELA-AU 5 72865688 72865688 single base substitution C T downstream_gene_variant MELA-AU 5 72865688 72865688 single base substitution C T intron_variant MELA-AU 5 72865688 72865688 single base substitution C T upstream_gene_variant MELA-AU 5 72865892 72865892 single base substitution A G downstream_gene_variant MELA-AU 5 72865892 72865892 single base substitution A G intron_variant MELA-AU 5 72865892 72865892 single base substitution A G upstream_gene_variant MELA-AU 5 72866035 72866035 single base substitution C T downstream_gene_variant MELA-AU 5 72866035 72866035 single base substitution C T intron_variant MELA-AU 5 72866035 72866035 single base substitution C T upstream_gene_variant MELA-AU 5 72866918 72866918 single base substitution C T downstream_gene_variant MELA-AU 5 72866918 72866918 single base substitution C T intron_variant MELA-AU 5 72866918 72866918 single base substitution C T upstream_gene_variant MELA-AU 5 72867381 72867381 single base substitution C T downstream_gene_variant MELA-AU 5 72867381 72867381 single base substitution C T intron_variant MELA-AU 5 72867381 72867381 single base substitution C T upstream_gene_variant MELA-AU 5 72867435 72867435 single base substitution T C downstream_gene_variant MELA-AU 5 72867435 72867435 single base substitution T C intron_variant MELA-AU 5 72867435 72867435 single base substitution T C upstream_gene_variant MELA-AU 5 72867891 72867892 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 5 72867891 72867892 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 72867891 72867892 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 5 72868319 72868319 single base substitution C T downstream_gene_variant MELA-AU 5 72868319 72868319 single base substitution C T exon_variant MELA-AU 5 72868319 72868319 single base substitution C T missense_variant R208C 622C>T MELA-AU 5 72868319 72868319 single base substitution C T missense_variant R227C 679C>T MELA-AU 5 72868319 72868319 single base substitution C T missense_variant R253C 757C>T MELA-AU 5 72868319 72868319 single base substitution C T missense_variant R37C 109C>T MELA-AU 5 72869595 72869595 single base substitution C T intron_variant MELA-AU 5 72870599 72870600 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 72870649 72870649 single base substitution C T intron_variant MELA-AU 5 72870854 72870854 single base substitution C T intron_variant MELA-AU 5 72870868 72870868 single base substitution G A intron_variant MELA-AU 5 72871457 72871457 single base substitution A C intron_variant MELA-AU 5 72872273 72872273 single base substitution G A intron_variant MELA-AU 5 72872542 72872542 single base substitution C G intron_variant MELA-AU 5 72873240 72873240 single base substitution C G intron_variant MELA-AU 5 72873745 72873745 single base substitution C T exon_variant MELA-AU 5 72873745 72873745 single base substitution C T missense_variant S130F 389C>T MELA-AU 5 72873745 72873745 single base substitution C T missense_variant S301F 902C>T MELA-AU 5 72873745 72873745 single base substitution C T missense_variant S320F 959C>T MELA-AU 5 72873745 72873745 single base substitution C T missense_variant S346F 1037C>T MELA-AU 5 72874391 72874391 single base substitution T C downstream_gene_variant MELA-AU 5 72874391 72874391 single base substitution T C intron_variant MELA-AU 5 72874768 72874768 single base substitution G C downstream_gene_variant MELA-AU 5 72874768 72874768 single base substitution G C intron_variant MELA-AU 5 72874889 72874889 single base substitution G A downstream_gene_variant MELA-AU 5 72874889 72874889 single base substitution G A synonymous_variant K208K 624G>A MELA-AU 5 72874889 72874889 single base substitution G A synonymous_variant K379K 1137G>A MELA-AU 5 72874889 72874889 single base substitution G A synonymous_variant K398K 1194G>A MELA-AU 5 72874889 72874889 single base substitution G A synonymous_variant K424K 1272G>A MELA-AU 5 72875020 72875020 single base substitution C A downstream_gene_variant MELA-AU 5 72875020 72875020 single base substitution C A intron_variant MELA-AU 5 72875304 72875304 single base substitution C T downstream_gene_variant MELA-AU 5 72875304 72875304 single base substitution C T intron_variant MELA-AU 5 72875629 72875629 single base substitution T A downstream_gene_variant MELA-AU 5 72875629 72875629 single base substitution T A intron_variant MELA-AU 5 72875647 72875647 single base substitution A C downstream_gene_variant MELA-AU 5 72875647 72875647 single base substitution A C intron_variant MELA-AU 5 72875649 72875649 single base substitution T C downstream_gene_variant MELA-AU 5 72875649 72875649 single base substitution T C intron_variant MELA-AU 5 72875893 72875893 single base substitution C T downstream_gene_variant MELA-AU 5 72875893 72875893 single base substitution C T missense_variant P321S 961C>T MELA-AU 5 72875893 72875893 single base substitution C T missense_variant P492S 1474C>T MELA-AU 5 72875893 72875893 single base substitution C T missense_variant P511S 1531C>T MELA-AU 5 72875893 72875893 single base substitution C T missense_variant P537S 1609C>T MELA-AU 5 72876130 72876130 single base substitution C T 3_prime_UTR_variant MELA-AU 5 72876130 72876130 single base substitution C T downstream_gene_variant MELA-AU 5 72876281 72876281 single base substitution C T 3_prime_UTR_variant MELA-AU 5 72876281 72876281 single base substitution C T downstream_gene_variant MELA-AU 5 72876731 72876731 single base substitution C T 3_prime_UTR_variant MELA-AU 5 72876731 72876731 single base substitution C T downstream_gene_variant MELA-AU 5 72876808 72876808 single base substitution C T 3_prime_UTR_variant MELA-AU 5 72876808 72876808 single base substitution C T downstream_gene_variant MELA-AU 5 72877486 72877486 single base substitution C T 3_prime_UTR_variant MELA-AU 5 72877486 72877486 single base substitution C T downstream_gene_variant MELA-AU 5 72878254 72878254 single base substitution G A downstream_gene_variant MELA-AU 5 72878650 72878650 single base substitution G T downstream_gene_variant MELA-AU 5 72880009 72880009 single base substitution C T downstream_gene_variant MELA-AU 5 72880088 72880088 single base substitution C T downstream_gene_variant MELA-AU 5 72881048 72881048 single base substitution C T downstream_gene_variant MELA-AU 5 72881148 72881148 single base substitution G A downstream_gene_variant MELA-AU 5 72881441 72881441 single base substitution T G downstream_gene_variant MELA-AU 5 72881516 72881516 single base substitution G T downstream_gene_variant MELA-AU 5 72881630 72881630 single base substitution G A downstream_gene_variant MELA-AU 5 72882068 72882068 single base substitution C T downstream_gene_variant MELA-AU 5 72882230 72882230 single base substitution C T downstream_gene_variant MELA-AU 5 72882412 72882412 single base substitution C T downstream_gene_variant MELA-AU 5 72882599 72882599 single base substitution G T downstream_gene_variant MELA-AU 5 72882709 72882709 single base substitution C T downstream_gene_variant ORCA-IN 5 72859590 72859590 single base substitution T C upstream_gene_variant OV-AU 5 72857046 72857046 single base substitution T A upstream_gene_variant OV-AU 5 72861467 72861467 single base substitution C T 5_prime_UTR_variant OV-AU 5 72861467 72861467 single base substitution C T upstream_gene_variant OV-AU 5 72875672 72875672 single base substitution A C downstream_gene_variant OV-AU 5 72875672 72875672 single base substitution A C intron_variant OV-AU 5 72878205 72878205 single base substitution T C downstream_gene_variant PACA-AU 5 72859986 72859986 single base substitution G T upstream_gene_variant PACA-AU 5 72859997 72859997 single base substitution G A upstream_gene_variant PACA-AU 5 72860810 72860810 single base substitution G T upstream_gene_variant PACA-AU 5 72863626 72863626 single base substitution G A downstream_gene_variant PACA-AU 5 72863626 72863626 single base substitution G A intron_variant PACA-AU 5 72863626 72863626 single base substitution G A upstream_gene_variant PACA-AU 5 72867970 72867970 single base substitution A G downstream_gene_variant PACA-AU 5 72867970 72867970 single base substitution A G intron_variant PACA-AU 5 72867970 72867970 single base substitution A G upstream_gene_variant PACA-AU 5 72870302 72870302 single base substitution A G intron_variant PACA-AU 5 72871925 72871925 single base substitution C T intron_variant PACA-AU 5 72878831 72878831 single base substitution A T downstream_gene_variant PACA-CA 5 72861501 72861501 single base substitution A G 5_prime_UTR_variant PACA-CA 5 72861501 72861501 single base substitution A G upstream_gene_variant PACA-CA 5 72862482 72862482 single base substitution C A intron_variant PACA-CA 5 72862483 72862483 single base substitution T A intron_variant PACA-CA 5 72862683 72862683 single base substitution A G intron_variant PACA-CA 5 72867399 72867399 single base substitution C T downstream_gene_variant PACA-CA 5 72867399 72867399 single base substitution C T intron_variant PACA-CA 5 72867399 72867399 single base substitution C T upstream_gene_variant PACA-CA 5 72868947 72868947 single base substitution G T downstream_gene_variant PACA-CA 5 72868947 72868947 single base substitution G T intron_variant PACA-CA 5 72873849 72873849 single base substitution T C exon_variant PACA-CA 5 72873849 72873849 single base substitution T C intron_variant PACA-CA 5 72874004 72874004 single base substitution A G exon_variant PACA-CA 5 72874004 72874004 single base substitution A G intron_variant PACA-CA 5 72877435 72877435 single base substitution T G 3_prime_UTR_variant PACA-CA 5 72877435 72877435 single base substitution T G downstream_gene_variant PACA-CA 5 72880603 72880603 single base substitution G A downstream_gene_variant PACA-CA 5 72881821 72881821 single base substitution C T downstream_gene_variant PACA-CA 5 72882420 72882420 single base substitution C G downstream_gene_variant PAEN-AU 5 72882573 72882573 single base substitution T C downstream_gene_variant PAEN-IT 5 72873448 72873448 single base substitution G A intron_variant PRAD-CA 5 72858300 72858300 single base substitution T C upstream_gene_variant PRAD-CA 5 72859798 72859798 single base substitution T A upstream_gene_variant PRAD-CA 5 72861459 72861459 single base substitution G A 5_prime_UTR_variant PRAD-CA 5 72861459 72861459 single base substitution G A upstream_gene_variant PRAD-CA 5 72869544 72869544 single base substitution G A intron_variant PRAD-CA 5 72873885 72873885 single base substitution G T exon_variant PRAD-CA 5 72873885 72873885 single base substitution G T intron_variant PRAD-CA 5 72876035 72876035 single base substitution G A 3_prime_UTR_variant PRAD-CA 5 72876035 72876035 single base substitution G A downstream_gene_variant PRAD-CA 5 72876119 72876119 single base substitution T C 3_prime_UTR_variant PRAD-CA 5 72876119 72876119 single base substitution T C downstream_gene_variant PRAD-CA 5 72879084 72879084 single base substitution T C downstream_gene_variant PRAD-CA 5 72879322 72879322 single base substitution T G downstream_gene_variant PRAD-CA 5 72879533 72879533 single base substitution G C downstream_gene_variant PRAD-CA 5 72879745 72879745 single base substitution A G downstream_gene_variant PRAD-UK 5 72866620 72866620 single base substitution G A downstream_gene_variant PRAD-UK 5 72866620 72866620 single base substitution G A intron_variant PRAD-UK 5 72866620 72866620 single base substitution G A upstream_gene_variant PRAD-UK 5 72882636 72882636 single base substitution C T downstream_gene_variant PRAD-US 5 72865483 72865483 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant PRAD-US 5 72865483 72865483 single base substitution C T downstream_gene_variant PRAD-US 5 72865483 72865483 single base substitution C T missense_variant P158L 473C>T PRAD-US 5 72865483 72865483 single base substitution C T missense_variant P177L 530C>T PRAD-US 5 72865483 72865483 single base substitution C T missense_variant P203L 608C>T PRAD-US 5 72865483 72865483 single base substitution C T upstream_gene_variant PRAD-US 5 72866487 72866502 deletion of <=200bp AGTGGAGAGTGTCCTA - downstream_gene_variant PRAD-US 5 72866487 72866502 deletion of <=200bp AGTGGAGAGTGTCCTA - frameshift_variant PVESVL18 PRAD-US 5 72866487 72866502 deletion of <=200bp AGTGGAGAGTGTCCTA - frameshift_variant PVESVL189 PRAD-US 5 72866487 72866502 deletion of <=200bp AGTGGAGAGTGTCCTA - frameshift_variant PVESVL208 PRAD-US 5 72866487 72866502 deletion of <=200bp AGTGGAGAGTGTCCTA - frameshift_variant PVESVL234 PRAD-US 5 72866487 72866502 deletion of <=200bp AGTGGAGAGTGTCCTA - upstream_gene_variant READ-US 5 72865421 72865421 single base substitution A C 5_prime_UTR_variant READ-US 5 72865421 72865421 single base substitution A C downstream_gene_variant READ-US 5 72865421 72865421 single base substitution A C missense_variant E137D 411A>C READ-US 5 72865421 72865421 single base substitution A C missense_variant E156D 468A>C READ-US 5 72865421 72865421 single base substitution A C missense_variant E182D 546A>C READ-US 5 72865421 72865421 single base substitution A C upstream_gene_variant READ-US 5 72873711 72873711 single base substitution A C exon_variant READ-US 5 72873711 72873711 single base substitution A C missense_variant T119P 355A>C READ-US 5 72873711 72873711 single base substitution A C missense_variant T290P 868A>C READ-US 5 72873711 72873711 single base substitution A C missense_variant T309P 925A>C READ-US 5 72873711 72873711 single base substitution A C missense_variant T335P 1003A>C RECA-EU 5 72865251 72865251 single base substitution G T downstream_gene_variant RECA-EU 5 72865251 72865251 single base substitution G T intron_variant RECA-EU 5 72865251 72865251 single base substitution G T upstream_gene_variant RECA-EU 5 72876833 72876833 single base substitution A T 3_prime_UTR_variant RECA-EU 5 72876833 72876833 single base substitution A T downstream_gene_variant RECA-EU 5 72877095 72877095 single base substitution A T 3_prime_UTR_variant RECA-EU 5 72877095 72877095 single base substitution A T downstream_gene_variant RECA-EU 5 72882209 72882209 single base substitution C T downstream_gene_variant SKCA-BR 5 72857990 72857990 single base substitution C A upstream_gene_variant SKCA-BR 5 72858101 72858101 single base substitution C A upstream_gene_variant SKCA-BR 5 72858778 72858778 single base substitution C T upstream_gene_variant SKCA-BR 5 72859558 72859558 single base substitution T G upstream_gene_variant SKCA-BR 5 72861081 72861081 single base substitution G C upstream_gene_variant SKCA-BR 5 72870316 72870316 insertion of <=200bp - AT intron_variant SKCA-BR 5 72877043 72877043 single base substitution C G 3_prime_UTR_variant SKCA-BR 5 72877043 72877043 single base substitution C G downstream_gene_variant SKCA-BR 5 72880253 72880253 single base substitution C T downstream_gene_variant SKCA-BR 5 72881142 72881142 single base substitution G A downstream_gene_variant SKCM-US 5 72858543 72858543 single base substitution A C upstream_gene_variant SKCM-US 5 72866468 72866468 single base substitution C T downstream_gene_variant SKCM-US 5 72866468 72866468 single base substitution C T missense_variant S12F 35C>T SKCM-US 5 72866468 72866468 single base substitution C T missense_variant S183F 548C>T SKCM-US 5 72866468 72866468 single base substitution C T missense_variant S202F 605C>T SKCM-US 5 72866468 72866468 single base substitution C T missense_variant S228F 683C>T SKCM-US 5 72866468 72866468 single base substitution C T upstream_gene_variant SKCM-US 5 72873745 72873745 single base substitution C T exon_variant SKCM-US 5 72873745 72873745 single base substitution C T missense_variant S130F 389C>T SKCM-US 5 72873745 72873745 single base substitution C T missense_variant S301F 902C>T SKCM-US 5 72873745 72873745 single base substitution C T missense_variant S320F 959C>T SKCM-US 5 72873745 72873745 single base substitution C T missense_variant S346F 1037C>T SKCM-US 5 72874881 72874881 single base substitution A G downstream_gene_variant SKCM-US 5 72874881 72874881 single base substitution A G missense_variant I206V 616A>G SKCM-US 5 72874881 72874881 single base substitution A G missense_variant I377V 1129A>G SKCM-US 5 72874881 72874881 single base substitution A G missense_variant I396V 1186A>G SKCM-US 5 72874881 72874881 single base substitution A G missense_variant I422V 1264A>G SKCM-US 5 72874889 72874889 single base substitution G A downstream_gene_variant SKCM-US 5 72874889 72874889 single base substitution G A synonymous_variant K208K 624G>A SKCM-US 5 72874889 72874889 single base substitution G A synonymous_variant K379K 1137G>A SKCM-US 5 72874889 72874889 single base substitution G A synonymous_variant K398K 1194G>A SKCM-US 5 72874889 72874889 single base substitution G A synonymous_variant K424K 1272G>A STAD-US 5 72857049 72857049 single base substitution A G upstream_gene_variant STAD-US 5 72858699 72858699 single base substitution G T upstream_gene_variant STAD-US 5 72864245 72864245 single base substitution A T downstream_gene_variant STAD-US 5 72864245 72864245 single base substitution A T missense_variant I43F 127A>T STAD-US 5 72864245 72864245 single base substitution A T missense_variant I62F 184A>T STAD-US 5 72864245 72864245 single base substitution A T missense_variant I88F 262A>T STAD-US 5 72864245 72864245 single base substitution A T splice_region_variant STAD-US 5 72864245 72864245 single base substitution A T upstream_gene_variant STAD-US 5 72868396 72868396 single base substitution A G downstream_gene_variant STAD-US 5 72868396 72868396 single base substitution A G exon_variant STAD-US 5 72868396 72868396 single base substitution A G synonymous_variant T233T 699A>G STAD-US 5 72868396 72868396 single base substitution A G synonymous_variant T252T 756A>G STAD-US 5 72868396 72868396 single base substitution A G synonymous_variant T278T 834A>G STAD-US 5 72868396 72868396 single base substitution A G synonymous_variant T62T 186A>G STAD-US 5 72868406 72868406 single base substitution C T downstream_gene_variant STAD-US 5 72868406 72868406 single base substitution C T exon_variant STAD-US 5 72868406 72868406 single base substitution C T synonymous_variant L237L 709C>T STAD-US 5 72868406 72868406 single base substitution C T synonymous_variant L256L 766C>T STAD-US 5 72868406 72868406 single base substitution C T synonymous_variant L282L 844C>T STAD-US 5 72868406 72868406 single base substitution C T synonymous_variant L66L 196C>T STAD-US 5 72872794 72872794 single base substitution G A exon_variant STAD-US 5 72872794 72872794 single base substitution G A missense_variant S257N 770G>A STAD-US 5 72872794 72872794 single base substitution G A missense_variant S276N 827G>A STAD-US 5 72872794 72872794 single base substitution G A missense_variant S302N 905G>A STAD-US 5 72872794 72872794 single base substitution G A missense_variant S86N 257G>A STAD-US 5 72873772 72873772 single base substitution G T exon_variant STAD-US 5 72873772 72873772 single base substitution G T missense_variant R139I 416G>T STAD-US 5 72873772 72873772 single base substitution G T missense_variant R310I 929G>T STAD-US 5 72873772 72873772 single base substitution G T missense_variant R329I 986G>T STAD-US 5 72873772 72873772 single base substitution G T missense_variant R355I 1064G>T UCEC-US 5 72858633 72858633 single base substitution G A upstream_gene_variant UCEC-US 5 72864260 72864260 single base substitution C A 5_prime_UTR_variant UCEC-US 5 72864260 72864260 single base substitution C A downstream_gene_variant UCEC-US 5 72864260 72864260 single base substitution C A synonymous_variant R48R 142C>A UCEC-US 5 72864260 72864260 single base substitution C A synonymous_variant R67R 199C>A UCEC-US 5 72864260 72864260 single base substitution C A synonymous_variant R93R 277C>A UCEC-US 5 72864260 72864260 single base substitution C A upstream_gene_variant UCEC-US 5 72864327 72864327 single base substitution G A 5_prime_UTR_variant UCEC-US 5 72864327 72864327 single base substitution G A downstream_gene_variant UCEC-US 5 72864327 72864327 single base substitution G A missense_variant R115Q 344G>A UCEC-US 5 72864327 72864327 single base substitution G A missense_variant R70Q 209G>A UCEC-US 5 72864327 72864327 single base substitution G A missense_variant R89Q 266G>A UCEC-US 5 72864327 72864327 single base substitution G A upstream_gene_variant UCEC-US 5 72874921 72874921 single base substitution C T downstream_gene_variant UCEC-US 5 72874921 72874921 single base substitution C T missense_variant A219V 656C>T UCEC-US 5 72874921 72874921 single base substitution C T missense_variant A390V 1169C>T UCEC-US 5 72874921 72874921 single base substitution C T missense_variant A409V 1226C>T UCEC-US 5 72874921 72874921 single base substitution C T missense_variant A435V 1304C>T UCEC-US 5 72875781 72875781 single base substitution G T downstream_gene_variant UCEC-US 5 72875781 72875781 single base substitution G T missense_variant E283D 849G>T UCEC-US 5 72875781 72875781 single base substitution G T missense_variant E454D 1362G>T UCEC-US 5 72875781 72875781 single base substitution G T missense_variant E473D 1419G>T UCEC-US 5 72875781 72875781 single base substitution G T missense_variant E499D 1497G>T UCEC-US 5 72875811 72875811 single base substitution C T downstream_gene_variant UCEC-US 5 72875811 72875811 single base substitution C T synonymous_variant T293T 879C>T UCEC-US 5 72875811 72875811 single base substitution C T synonymous_variant T464T 1392C>T UCEC-US 5 72875811 72875811 single base substitution C T synonymous_variant T483T 1449C>T UCEC-US 5 72875811 72875811 single base substitution C T synonymous_variant T509T 1527C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand XHDG35 COSM4769521 c.1379A>T p.D460V Substitution - Missense 5:73579916-73579916 + TCGA-D8-A1J8-01 COSM3828393 c.476C>T p.T159I Substitution - Missense 5:73569604-73569604 + TCGA-BR-6452-01 COSM3856236 c.184A>T p.I62F Substitution - Missense 5:73568420-73568420 + TCGA-EE-A3AA-06 COSM3617798 c.1194G>A p.K398K Substitution - coding silent 5:73579064-73579064 + TCGA-AA-A00N-01 COSM278058 c.230C>A p.S77Y Substitution - Missense 5:73568466-73568466 + CHC432T COSM4953867 c.298G>A p.E100K Substitution - Missense 5:73568534-73568534 + TCGA-B5-A11N-01 COSM1069950 c.1449C>T p.T483T Substitution - coding silent 5:73579986-73579986 + TCGA-DD-A11D-01 COSM4938077 c.594G>T p.E198D Substitution - Missense 5:73570632-73570632 + TCGA-33-6737-01 COSM739261 c.918A>G p.V306V Substitution - coding silent 5:73577879-73577879 + ESCC_111 COSM5639369 c.770G>A p.S257N Substitution - Missense 5:73572585-73572585 + TCGA-BR-4292-01 COSM3856238 c.766C>T p.L256L Substitution - coding silent 5:73572581-73572581 + DLD1 COSM4625596 c.163G>A p.A55T Substitution - Missense 5:73568307-73568307 + TCGA-D1-A16F-01 COSM1069948 c.1226C>T p.A409V Substitution - Missense 5:73579096-73579096 + cSCCP8 COSM140514 c.1166C>A p.T389K Substitution - Missense 5:73579036-73579036 + TCGA-37-3789-01 COSM739262 c.810-1G>T p.? Unknown 5:73576951-73576951 + CHC429T COSM3669473 c.1392A>G p.L464L Substitution - coding silent 5:73579929-73579929 + WSU-HN12 COSM4601033 c.194A>G p.Y65C Substitution - Missense 5:73568430-73568430 + 2492717 COSM5719066 c.1450T>G p.L484V Substitution - Missense 5:73579987-73579987 + RK190_C01 COSM3768859 c.1469T>G p.L490R Substitution - Missense 5:73580006-73580006 + CSCC-7-T COSM4476458 c.206C>T p.S69F Substitution - Missense 5:73568442-73568442 + 2492716 COSM5719066 c.1450T>G p.L484V Substitution - Missense 5:73579987-73579987 + ESCC_78 COSM5635508 c.485A>G p.E162G Substitution - Missense 5:73569613-73569613 + 2492718 COSM5719066 c.1450T>G p.L484V Substitution - Missense 5:73579987-73579987 + TCGA-AA-3510-01 COSM1438513 c.220A>C p.K74Q Substitution - Missense 5:73568456-73568456 + 17802 COSM5346500 c.1144G>A p.D382N Substitution - Missense 5:73578850-73578850 + S02209 COSM5675373 c.580G>T p.A194S Substitution - Missense 5:73570618-73570618 + TCGA-BR-4362-01 COSM3856239 c.827G>A p.S276N Substitution - Missense 5:73576969-73576969 + TCGA-EI-6917-01 COSM3429626 c.925A>C p.T309P Substitution - Missense 5:73577886-73577886 + STC297 COSM4504947 c.679C>T p.R227C Substitution - Missense 5:73572494-73572494 + TCGA-D1-A17Q-01 COSM252914 c.266G>A p.R89Q Substitution - Missense 5:73568502-73568502 + TCGA-66-2773-01 COSM739263 c.588G>A p.T196T Substitution - coding silent 5:73570626-73570626 + CSCC-49-T COSM4562398 c.924G>T p.M308I Substitution - Missense 5:73577885-73577885 + TCGA-EB-A44P-01 COSM3617797 c.1186A>G p.I396V Substitution - Missense 5:73579056-73579056 + PT27 COSM5905650 c.551C>T p.S184L Substitution - Missense 5:73570589-73570589 + TCGA-F5-6814-01 COSM3429625 c.468A>C p.E156D Substitution - Missense 5:73569596-73569596 + TCGA-AA-A010-01 COSM286418 c.30G>T p.Q10H Substitution - Missense 5:73567374-73567374 + 4132_T COSM3947696 c.215C>G p.P72R Substitution - Missense 5:73568451-73568451 + TCGA-CC-A7IH-01 COSM4923248 c.683A>G p.Y228C Substitution - Missense 5:73572498-73572498 + CSCC-20-T COSM4504947 c.679C>T p.R227C Substitution - Missense 5:73572494-73572494 + TCGA-GF-A6C9-06 COSM4903301 c.605C>T p.S202F Substitution - Missense 5:73570643-73570643 + T2987 COSM4739989 c.779G>A p.G260E Substitution - Missense 5:73572594-73572594 + 587284 COSM1232145 c.202T>C p.Y68H Substitution - Missense 5:73568438-73568438 + TCGA-B5-A0K0-01 COSM1069947 c.1043G>A p.R348Q Substitution - Missense 5:73578004-73578004 + S02299 COSM5690774 c.1467G>T p.M489I Substitution - Missense 5:73580004-73580004 + 2492719 COSM5719066 c.1450T>G p.L484V Substitution - Missense 5:73579987-73579987 + BN02T COSM1620527 c.610G>C p.E204Q Substitution - Missense 5:73570648-73570648 + 2951_CLM COSM5756693 c.1022G>A p.G341E Substitution - Missense 5:73577983-73577983 + SJHGG003_A COSM1069948 c.1226C>T p.A409V Substitution - Missense 5:73579096-73579096 + TCGA-BR-4257-01 COSM3856237 c.756A>G p.T252T Substitution - coding silent 5:73572571-73572571 + TCGA-06-0140-01 COSM2149679 c.286G>A p.V96M Substitution - Missense 5:73568522-73568522 + C32 COSM4619269 c.700A>C p.M234L Substitution - Missense 5:73572515-73572515 + CCK81 COSM3072938 c.1034T>C p.M345T Substitution - Missense 5:73577995-73577995 + sysucc-311T COSM5466539 c.1502C>A p.S501Y Substitution - Missense 5:73580039-73580039 + OV207 COSM252914 c.266G>A p.R89Q Substitution - Missense 5:73568502-73568502 + CHC432T COSM4953867 c.298G>A p.E100K Substitution - Missense 5:73568534-73568534 + SNUH_G16_S1 COSM3761312 c.807T>C p.D269D Substitution - coding silent 5:73572622-73572622 + TCGA-HE-A5NK-01 COSM4908507 c.318T>A p.L106L Substitution - coding silent 5:73568554-73568554 + TCGA-AX-A0J1-01 COSM1069946 c.199C>A p.R67R Substitution - coding silent 5:73568435-73568435 + 331 COSM1742139 c.1444G>C p.E482Q Substitution - Missense 5:73579981-73579981 + CSCC-35-T COSM4563345 c.969G>T p.K323N Substitution - Missense 5:73577930-73577930 + CHC429T COSM3669473 c.1392A>G p.L464L Substitution - coding silent 5:73579929-73579929 + SNUH_G10_S1 COSM4003582 c.807T>A p.D269E Substitution - Missense 5:73572622-73572622 + 587354 COSM450034 c.607G>A p.V203I Substitution - Missense 5:73570645-73570645 + H650 COSM1194322 c.1194G>C p.K398N Substitution - Missense 5:73579064-73579064 + ESCC_BICR_034T COSM5443548 c.483A>G p.K161K Substitution - coding silent 5:73569611-73569611 + SNU-C4 COSM4653999 c.213A>T p.E71D Substitution - Missense 5:73568449-73568449 + TCGA-BS-A0UV-01 COSM1069949 c.1419G>T p.E473D Substitution - Missense 5:73579956-73579956 + ESO-536 COSM1270126 c.119C>T p.A40V Substitution - Missense 5:73568263-73568263 + cSCCP7 COSM139580 c.1121C>T p.S374F Substitution - Missense 5:73578827-73578827 + ESCC-D13 COSM3783913 c.530C>T p.P177L Substitution - Missense 5:73569658-73569658 + TCGA-EE-A2M5-06 COSM3617796 c.959C>T p.S320F Substitution - Missense 5:73577920-73577920 + TCGA-AN-A046-01 COSM3828394 c.601C>A p.L201I Substitution - Missense 5:73570639-73570639 + 2492715 COSM5719066 c.1450T>G p.L484V Substitution - Missense 5:73579987-73579987 + TCGA-BR-6452-01 COSM3856240 c.986G>T p.R329I Substitution - Missense 5:73577947-73577947 + TCGA-EJ-A46I-01 COSM3783913 c.530C>T p.P177L Substitution - Missense 5:73569658-73569658 + TCGA-43-3394-01 COSM739264 c.249A>G p.A83A Substitution - coding silent 5:73568485-73568485 + ccRCC-10 COSM1664935 c.271G>T p.D91Y Substitution - Missense 5:73568507-73568507 + 457 COSM4436225 c.408C>T p.H136H Substitution - coding silent 5:73569536-73569536 + BN02 COSM1620527 c.610G>C p.E204Q Substitution - Missense 5:73570648-73570648 + TCGA-DD-A4ND-01 COSM4935028 c.1136G>T p.R379I Substitution - Missense 5:73578842-73578842 + RK227_C01 COSM4945549 c.347G>A p.R116K Substitution - Missense 5:73568583-73568583 + PD6409a COSM5788671 c.471T>C p.I157I Substitution - coding silent 5:73569599-73569599 + I2L-P19Tb-Tumor-Organoid COSM5356332 c.1280+6delT p.? Unknown 5:73579156-73579156 + TCGA-B0-4712-01 COSM483026 c.274G>A p.G92S Substitution - Missense 5:73568510-73568510 + TCGA-06-0140 COSM2149679 c.286G>A p.V96M Substitution - Missense 5:73568522-73568522 + TCGA-AM-5821-01 COSM3761312 c.807T>C p.D269D Substitution - coding silent 5:73572622-73572622 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.406703 5q13.2

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer AAGTTTAC - IntronicDeletion . c.1281-34_1281-27delACAAGTTT 5 72875102 ESCA A G Synonymous p.A83A c.249A>G 5 72864310 LUSC A G Synonymous p.T252T c.756A>G 5 72868396 STAD A G Synonymous p.V306V c.918A>G 5 72873704 LUSC AGTGGAGAGTGTCCTA - Frameshift p.V209Ffs*22 c.624_639delAGTGGAGAGTGTCCTA 5 72866487 PRAD A T Missense p.Q21L c.62A>T 5 72863231 LUAD C G 3-UTRSNV . c.1554+789C>G 5 72876705 HC C G Missense p.H63D c.187C>G 5 72864248 CM C - IntronicDeletion . c.810-11delC 5 72872765 NSCLC C T IntronicSNV . c.1044+115C>T 5 72873945 CM C T Missense p.A409V c.1226C>T 5 72874921 UCEC C T Missense p.A40V c.119C>T 5 72864088 ESCA C T Missense p.P177L c.530C>T 5 72865483 PRAD C T Missense p.S320F c.959C>T 5 72873745 CM C T Synonymous p.L256L c.766C>T 5 72868406 STAD G A IntronicSNV . c.809+323G>A 5 72868772 CLL G A Missense p.G92S c.274G>A 5 72864335 RCCC G A Missense p.V203I c.607G>A 5 72866470 BRCA G A Missense p.V96M c.286G>A 5 72864347 GBM G A Synonymous p.K398K c.1194G>A 5 72874889 CM G A Synonymous p.R262R c.786G>A 5 72868426 MM G A Synonymous p.T196T c.588G>A 5 72866451 LUSC GG TA Missense p.G206* c.616_617delinsTA 5 72866479 GBM GG TT SpliceAcceptorBlockSubstitution . c.810-1_810delinsTT 5 72872776 CM G T SpliceAcceptorSNV . c.810-1G>T 5 72872776 LUSC T - 3-UTRDeletion . c.1554+666delC 5 72876582 HC T A Synonymous p.V459V c.1377T>A 5 72875739 LUAD