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 ACC 16 30937068 30937068 + Missense_Mutation SNP C C T TCGA-OR-A5KO-01A-11D-A29I-10 TCGA-OR-A5KO-10A-01D-A29L-10 g.chr16:30937068C>T c.53C>T c.(52-54)aCg>aTg p.T18M ACC 16 30958250 30958250 + Silent SNP G G T TCGA-OR-A5KB-01A-11D-A30A-10 TCGA-OR-A5KB-11A-11D-A30A-10 g.chr16:30958250G>T c.1887G>T c.(1885-1887)ctG>ctT p.L629L BLCA 16 30937180 30937180 + Silent SNP C C T TCGA-XF-A9T5-01A-11D-A42E-08 TCGA-XF-A9T5-10A-01D-A42H-08 g.chr16:30937180C>T c.165C>T c.(163-165)ttC>ttT p.F55F BLCA 16 30939203 30939204 + Frame_Shift_Ins INS - - C TCGA-XF-A9SG-01A-12D-A42E-08 TCGA-XF-A9SG-10A-01D-A42H-08 g.chr16:30939203_30939204insC c.606_607insC c.(607-609)cccfs p.P203fs BLCA 16 30939803 30939803 + Missense_Mutation SNP G G C TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 g.chr16:30939803G>C c.703G>C c.(703-705)Gag>Cag p.E235Q BLCA 16 30941527 30941527 + Missense_Mutation SNP C C T TCGA-S5-A6DX-01A-11D-A31L-08 TCGA-S5-A6DX-10A-01D-A31J-08 g.chr16:30941527C>T c.983C>T c.(982-984)tCg>tTg p.S328L BLCA 16 30941554 30941554 + Missense_Mutation SNP C C T TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 g.chr16:30941554C>T c.1010C>T c.(1009-1011)tCg>tTg p.S337L BLCA 16 30941563 30941563 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 g.chr16:30941563C>T c.1019C>T c.(1018-1020)tCg>tTg p.S340L BLCA 16 30953717 30953717 + Missense_Mutation SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 g.chr16:30953717C>G c.1547C>G c.(1546-1548)tCt>tGt p.S516C BRCA 16 30939090 30939090 + Missense_Mutation SNP C C T TCGA-AC-A62X-01A-11D-A29N-09 TCGA-AC-A62X-10A-01D-A29N-09 g.chr16:30939090C>T c.493C>T c.(493-495)Cgt>Tgt p.R165C BRCA 16 30941589 30941589 + Missense_Mutation SNP G G A TCGA-A8-A095-01A-11W-A019-09 TCGA-A8-A095-10A-01W-A021-09 g.chr16:30941589G>A c.1045G>A c.(1045-1047)Gag>Aag p.E349K BRCA 16 30958079 30958079 + Silent SNP G G A TCGA-A8-A09Z-01A-11W-A019-09 TCGA-A8-A09Z-10A-01W-A021-09 g.chr16:30958079G>A c.1716G>A c.(1714-1716)caG>caA p.Q572Q CESC 16 30937143 30937143 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 g.chr16:30937143G>A c.128G>A c.(127-129)cGg>cAg p.R43Q COAD 16 30938631 30938631 + Silent SNP C C T TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr16:30938631C>T c.240C>T c.(238-240)ccC>ccT p.P80P COAD 16 30939832 30939832 + Silent SNP C C T TCGA-AA-3980-01A-02W-0995-10 TCGA-AA-3980-10A-01W-0999-10 g.chr16:30939832C>T c.732C>T c.(730-732)gaC>gaT p.D244D COAD 16 30939843 30939843 + Missense_Mutation SNP T T C TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr16:30939843T>C c.743T>C c.(742-744)cTc>cCc p.L248P COAD 16 30939906 30939906 + Missense_Mutation SNP C C A TCGA-CM-4746-01A-01D-1408-10 TCGA-CM-4746-10A-01D-1408-10 g.chr16:30939906C>A c.806C>A c.(805-807)gCt>gAt p.A269D COAD 16 30958095 30958095 + Missense_Mutation SNP C C A TCGA-G4-6293-01A-11D-1719-10 TCGA-G4-6293-10A-01D-1719-10 g.chr16:30958095C>A c.1732C>A c.(1732-1734)Cgt>Agt p.R578S COAD 16 30958096 30958096 + Missense_Mutation SNP G G A TCGA-AA-3712-01A-21D-1719-10 TCGA-AA-3712-11A-01D-1719-10 g.chr16:30958096G>A c.1733G>A c.(1732-1734)cGt>cAt p.R578H COAD 16 30958096 30958096 + Missense_Mutation SNP G G A TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr16:30958096G>A c.1733G>A c.(1732-1734)cGt>cAt p.R578H COAD 16 30958105 30958105 + Missense_Mutation SNP G G A TCGA-F4-6809-01A-11D-1835-10 TCGA-F4-6809-10A-01D-1835-10 g.chr16:30958105G>A c.1742G>A c.(1741-1743)gGt>gAt p.G581D COAD 16 30958165 30958165 + Missense_Mutation SNP C C T TCGA-D5-6532-01A-11D-1719-10 TCGA-D5-6532-10A-01D-1719-10 g.chr16:30958165C>T c.1802C>T c.(1801-1803)gCc>gTc p.A601V COADREAD 16 30938631 30938631 + Silent SNP C C T TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr16:30938631C>T c.240C>T c.(238-240)ccC>ccT p.P80P COADREAD 16 30939832 30939832 + Silent SNP C C T TCGA-AA-3980-01A-02W-0995-10 TCGA-AA-3980-10A-01W-0999-10 g.chr16:30939832C>T c.732C>T c.(730-732)gaC>gaT p.D244D COADREAD 16 30939843 30939843 + Missense_Mutation SNP T T C TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr16:30939843T>C c.743T>C c.(742-744)cTc>cCc p.L248P COADREAD 16 30939906 30939906 + Missense_Mutation SNP C C A TCGA-CM-4746-01A-01D-1408-10 TCGA-CM-4746-10A-01D-1408-10 g.chr16:30939906C>A c.806C>A c.(805-807)gCt>gAt p.A269D COADREAD 16 30958095 30958095 + Missense_Mutation SNP C C A TCGA-G4-6293-01A-11D-1719-10 TCGA-G4-6293-10A-01D-1719-10 g.chr16:30958095C>A c.1732C>A c.(1732-1734)Cgt>Agt p.R578S COADREAD 16 30958096 30958096 + Missense_Mutation SNP G G A TCGA-AA-3712-01A-21D-1719-10 TCGA-AA-3712-11A-01D-1719-10 g.chr16:30958096G>A c.1733G>A c.(1732-1734)cGt>cAt p.R578H COADREAD 16 30958096 30958096 + Missense_Mutation SNP G G A TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr16:30958096G>A c.1733G>A c.(1732-1734)cGt>cAt p.R578H COADREAD 16 30958105 30958105 + Missense_Mutation SNP G G A TCGA-F4-6809-01A-11D-1835-10 TCGA-F4-6809-10A-01D-1835-10 g.chr16:30958105G>A c.1742G>A c.(1741-1743)gGt>gAt p.G581D COADREAD 16 30958165 30958165 + Missense_Mutation SNP C C T TCGA-D5-6532-01A-11D-1719-10 TCGA-D5-6532-10A-01D-1719-10 g.chr16:30958165C>T c.1802C>T c.(1801-1803)gCc>gTc p.A601V ESCA 16 30958499 30958499 + Missense_Mutation SNP C C T TCGA-IG-A97I-01A-11D-A387-09 TCGA-IG-A97I-10A-01D-A38A-09 g.chr16:30958499C>T c.2033C>T c.(2032-2034)cCc>cTc p.P678L GBM 16 30958480 30958480 + Missense_Mutation SNP C C T TCGA-06-5858-01A-01D-1696-08 TCGA-06-5858-10A-01D-1696-08 g.chr16:30958480C>T c.2014C>T c.(2014-2016)Cgg>Tgg p.R672W GBMLGG 16 30939204 30939204 + Frame_Shift_Del DEL C C - TCGA-HT-7681-01A-11D-2395-08 TCGA-HT-7681-10C-01D-2396-08 g.chr16:30939204delC c.607delC c.(607-609)cccfs p.P205fs GBMLGG 16 30939842 30939842 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr16:30939842C>A c.742C>A c.(742-744)Ctc>Atc p.L248I GBMLGG 16 30958480 30958480 + Missense_Mutation SNP C C T TCGA-06-5858-01A-01D-1696-08 TCGA-06-5858-10A-01D-1696-08 g.chr16:30958480C>T c.2014C>T c.(2014-2016)Cgg>Tgg p.R672W HNSC 16 30939203 30939204 + Frame_Shift_Ins INS - - C TCGA-MT-A67G-01A-11D-A30E-08 TCGA-MT-A67G-10A-01D-A30H-08 g.chr16:30939203_30939204insC c.606_607insC c.(607-609)cccfs p.P203fs HNSC 16 30939204 30939204 + Frame_Shift_Del DEL C C - TCGA-UF-A71E-01A-31D-A34J-08 TCGA-UF-A71E-10B-01D-A34M-08 g.chr16:30939204delC c.607delC c.(607-609)cccfs p.P205fs HNSC 16 30941539 30941539 + Missense_Mutation SNP C C T TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr16:30941539C>T c.995C>T c.(994-996)tCc>tTc p.S332F HNSC 16 30958233 30958233 + Missense_Mutation SNP C C G TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 g.chr16:30958233C>G c.1870C>G c.(1870-1872)Cca>Gca p.P624A KIPAN 16 30939867 30939867 + Missense_Mutation SNP C C T TCGA-BP-5000-01A-01D-1462-08 TCGA-BP-5000-11A-01D-1462-08 g.chr16:30939867C>T c.767C>T c.(766-768)cCg>cTg p.P256L KIPAN 16 30953551 30953551 + Missense_Mutation SNP G G T TCGA-UN-AAZ9-01A-11D-A382-10 TCGA-UN-AAZ9-10A-01D-A385-10 g.chr16:30953551G>T c.1476G>T c.(1474-1476)tgG>tgT p.W492C KIPAN 16 30958111 30958111 + Missense_Mutation SNP A A G TCGA-HE-A5NK-01A-11D-A26P-10 TCGA-HE-A5NK-10A-01D-A26P-10 g.chr16:30958111A>G c.1748A>G c.(1747-1749)gAg>gGg p.E583G KIRC 16 30939867 30939867 + Missense_Mutation SNP C C T TCGA-BP-5000-01A-01D-1462-08 TCGA-BP-5000-11A-01D-1462-08 g.chr16:30939867C>T c.767C>T c.(766-768)cCg>cTg p.P256L KIRP 16 30953551 30953551 + Missense_Mutation SNP G G T TCGA-UN-AAZ9-01A-11D-A382-10 TCGA-UN-AAZ9-10A-01D-A385-10 g.chr16:30953551G>T c.1476G>T c.(1474-1476)tgG>tgT p.W492C KIRP 16 30958111 30958111 + Missense_Mutation SNP A A G TCGA-HE-A5NK-01A-11D-A26P-10 TCGA-HE-A5NK-10A-01D-A26P-10 g.chr16:30958111A>G c.1748A>G c.(1747-1749)gAg>gGg p.E583G LGG 16 30939204 30939204 + Frame_Shift_Del DEL C C - TCGA-HT-7681-01A-11D-2395-08 TCGA-HT-7681-10C-01D-2396-08 g.chr16:30939204delC c.607delC c.(607-609)cccfs p.P205fs LGG 16 30939842 30939842 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr16:30939842C>A c.742C>A c.(742-744)Ctc>Atc p.L248I LIHC 16 30938694 30938694 + Missense_Mutation SNP G G T TCGA-DD-A4NR-01A-11D-A30V-10 TCGA-DD-A4NR-10A-01D-A30V-10 g.chr16:30938694G>T c.303G>T c.(301-303)gaG>gaT p.E101D LIHC 16 30958514 30958514 + Missense_Mutation SNP G G A TCGA-DD-A113-01A-11D-A12Z-10 TCGA-DD-A113-10A-01D-A12Z-10 g.chr16:30958514G>A c.2048G>A c.(2047-2049)cGc>cAc p.R683H LUAD 16 30937210 30937210 + Silent SNP C C T TCGA-38-4625-01A-01D-1553-08 TCGA-38-4625-11A-01D-1553-08 g.chr16:30937210C>T c.195C>T c.(193-195)ccC>ccT p.P65P LUAD 16 30939203 30939204 + Frame_Shift_Ins INS - - C TCGA-55-7910-01A-11D-2167-08 TCGA-55-7910-11A-01D-2167-08 g.chr16:30939203_30939204insC c.606_607insC c.(607-609)cccfs p.P203fs LUAD 16 30941470 30941470 + Missense_Mutation SNP G G A TCGA-MN-A4N5-01A-11D-A24P-08 TCGA-MN-A4N5-10A-01D-A24P-08 g.chr16:30941470G>A c.926G>A c.(925-927)cGt>cAt p.R309H LUAD 16 30941500 30941500 + Missense_Mutation SNP G G T TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 g.chr16:30941500G>T c.956G>T c.(955-957)cGg>cTg p.R319L LUSC 16 30939884 30939884 + Missense_Mutation SNP A A T TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 g.chr16:30939884A>T c.784A>T c.(784-786)Agg>Tgg p.R262W LUSC 16 30941629 30941629 + Missense_Mutation SNP G G T TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 g.chr16:30941629G>T c.1085G>T c.(1084-1086)gGc>gTc p.G362V OV 16 30941565 30941565 + Missense_Mutation SNP C C G TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 g.chr16:30941565C>G c.1021C>G c.(1021-1023)Ctg>Gtg p.L341V OV 16 30958095 30958095 + Missense_Mutation SNP C C T TCGA-24-1423-01A-01W-0545-08 TCGA-24-1423-10A-01W-0545-08 g.chr16:30958095C>T c.1732C>T c.(1732-1734)Cgt>Tgt p.R578C OV 16 30958164 30958164 + Missense_Mutation SNP G G A TCGA-61-2101-01A-01W-0722-08 TCGA-61-2101-11A-01W-0723-08 g.chr16:30958164G>A c.1801G>A c.(1801-1803)Gcc>Acc p.A601T PRAD 16 30958065 30958065 + Missense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr16:30958065C>T c.1702C>T c.(1702-1704)Cgt>Tgt p.R568C SARC 16 30938630 30938630 + Splice_Site SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 g.chr16:30938630C>T c.239C>T c.(238-240)cCc>cTc p.P80L SKCM 16 30939897 30939897 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 g.chr16:30939897C>T c.797C>T c.(796-798)cCg>cTg p.P266L SKCM 16 30941555 30941555 + Silent SNP G G A TCGA-EE-A3JB-06A-11D-A21A-08 TCGA-EE-A3JB-10A-01D-A21A-08 g.chr16:30941555G>A c.1011G>A c.(1009-1011)tcG>tcA p.S337S SKCM 16 30941595 30941595 + Missense_Mutation SNP C C T TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 g.chr16:30941595C>T c.1051C>T c.(1051-1053)Cgg>Tgg p.R351W SKCM 16 30941595 30941595 + Missense_Mutation SNP C C T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 g.chr16:30941595C>T c.1051C>T c.(1051-1053)Cgg>Tgg p.R351W SKCM 16 30958127 30958127 + Silent SNP C C T TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 g.chr16:30958127C>T c.1764C>T c.(1762-1764)tcC>tcT p.S588S SKCM 16 30958426 30958426 + Silent SNP C C T TCGA-D3-A1Q6-06A-11D-A196-08 TCGA-D3-A1Q6-10A-01D-A198-08 g.chr16:30958426C>T c.1960C>T c.(1960-1962)Cta>Tta p.L654L

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 16 30941563 30941563 single base substitution C T downstream_gene_variant BLCA-US 16 30941563 30941563 single base substitution C T missense_variant S204L 611C>T BLCA-US 16 30941563 30941563 single base substitution C T missense_variant S231L 692C>T BLCA-US 16 30941563 30941563 single base substitution C T missense_variant S28L 83C>T BLCA-US 16 30941563 30941563 single base substitution C T missense_variant S320L 959C>T BLCA-US 16 30941563 30941563 single base substitution C T missense_variant S340L 1019C>T BLCA-US 16 30953717 30953717 single base substitution C G missense_variant S204C 611C>G BLCA-US 16 30953717 30953717 single base substitution C G missense_variant S380C 1139C>G BLCA-US 16 30953717 30953717 single base substitution C G missense_variant S407C 1220C>G BLCA-US 16 30953717 30953717 single base substitution C G missense_variant S496C 1487C>G BLCA-US 16 30953717 30953717 single base substitution C G missense_variant S516C 1547C>G BLCA-US 16 30953717 30953717 single base substitution C G missense_variant S7C 20C>G BLCA-US 16 30953717 30953717 single base substitution C G upstream_gene_variant BLCA-US 16 30964944 30964944 single base substitution G C downstream_gene_variant BRCA-EU 16 30929644 30929644 single base substitution G A upstream_gene_variant BRCA-EU 16 30930084 30930084 single base substitution C T upstream_gene_variant BRCA-EU 16 30930845 30930845 single base substitution C T upstream_gene_variant BRCA-EU 16 30931056 30931056 single base substitution C T upstream_gene_variant BRCA-EU 16 30931925 30931925 single base substitution C T upstream_gene_variant BRCA-EU 16 30932485 30932485 single base substitution A G upstream_gene_variant BRCA-EU 16 30933663 30933663 single base substitution G A upstream_gene_variant BRCA-EU 16 30935601 30935601 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 16 30935601 30935601 single base substitution C G intron_variant BRCA-EU 16 30935601 30935601 single base substitution C G upstream_gene_variant BRCA-EU 16 30937149 30937149 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 16 30937149 30937149 single base substitution G C missense_variant C25S 74G>C BRCA-EU 16 30937149 30937149 single base substitution G C missense_variant C45S 134G>C BRCA-EU 16 30937149 30937149 single base substitution G C upstream_gene_variant BRCA-EU 16 30937196 30937196 single base substitution A C 5_prime_UTR_variant BRCA-EU 16 30937196 30937196 single base substitution A C missense_variant K41Q 121A>C BRCA-EU 16 30937196 30937196 single base substitution A C missense_variant K61Q 181A>C BRCA-EU 16 30937196 30937196 single base substitution A C upstream_gene_variant BRCA-EU 16 30937227 30937227 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 16 30937227 30937227 single base substitution C T missense_variant S51L 152C>T BRCA-EU 16 30937227 30937227 single base substitution C T missense_variant S5L 14C>T BRCA-EU 16 30937227 30937227 single base substitution C T missense_variant S71L 212C>T BRCA-EU 16 30938544 30938544 single base substitution G T downstream_gene_variant BRCA-EU 16 30938544 30938544 single base substitution G T intron_variant BRCA-EU 16 30940097 30940097 single base substitution G A downstream_gene_variant BRCA-EU 16 30940097 30940097 single base substitution G A intron_variant BRCA-EU 16 30940299 30940299 deletion of <=200bp G - downstream_gene_variant BRCA-EU 16 30940299 30940299 deletion of <=200bp G - intron_variant BRCA-EU 16 30942583 30942587 multiple base substitution (>=2bp and <=200bp) CAGCA CTTG intron_variant BRCA-EU 16 30942584 30942584 single base substitution A T intron_variant BRCA-EU 16 30942607 30942607 single base substitution C T intron_variant BRCA-EU 16 30942921 30942921 single base substitution C T intron_variant BRCA-EU 16 30943261 30943261 single base substitution C T intron_variant BRCA-EU 16 30945199 30945199 single base substitution G T intron_variant BRCA-EU 16 30945266 30945266 single base substitution G T intron_variant BRCA-EU 16 30947811 30947811 single base substitution A G intron_variant BRCA-EU 16 30948005 30948005 single base substitution G A intron_variant BRCA-EU 16 30948075 30948075 single base substitution T C intron_variant BRCA-EU 16 30949262 30949262 single base substitution T C intron_variant BRCA-EU 16 30949262 30949262 single base substitution T C upstream_gene_variant BRCA-EU 16 30952132 30952132 single base substitution C T intron_variant BRCA-EU 16 30952132 30952132 single base substitution C T upstream_gene_variant BRCA-EU 16 30952804 30952804 single base substitution A C intron_variant BRCA-EU 16 30952804 30952804 single base substitution A C upstream_gene_variant BRCA-EU 16 30954016 30954016 single base substitution C G intron_variant BRCA-EU 16 30955918 30955918 single base substitution G T intron_variant BRCA-EU 16 30961392 30961392 single base substitution G A downstream_gene_variant BRCA-EU 16 30962094 30962094 single base substitution C T downstream_gene_variant BRCA-EU 16 30963106 30963106 single base substitution T G downstream_gene_variant BRCA-EU 16 30963107 30963107 single base substitution G C downstream_gene_variant BRCA-EU 16 30963824 30963824 single base substitution C A downstream_gene_variant BRCA-EU 16 30963861 30963861 single base substitution G A downstream_gene_variant BRCA-EU 16 30964111 30964111 single base substitution C T downstream_gene_variant BRCA-FR 16 30957719 30957719 single base substitution T C intron_variant BRCA-US 16 30934062 30934062 single base substitution C T upstream_gene_variant BRCA-US 16 30939090 30939090 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant BRCA-US 16 30939090 30939090 single base substitution C T downstream_gene_variant BRCA-US 16 30939090 30939090 single base substitution C T intron_variant BRCA-US 16 30939090 30939090 single base substitution C T missense_variant R145C 433C>T BRCA-US 16 30939090 30939090 single base substitution C T missense_variant R165C 493C>T BRCA-US 16 30939090 30939090 single base substitution C T missense_variant R99C 295C>T BRCA-US 16 30941589 30941589 single base substitution G A downstream_gene_variant BRCA-US 16 30941589 30941589 single base substitution G A missense_variant E213K 637G>A BRCA-US 16 30941589 30941589 single base substitution G A missense_variant E240K 718G>A BRCA-US 16 30941589 30941589 single base substitution G A missense_variant E329K 985G>A BRCA-US 16 30941589 30941589 single base substitution G A missense_variant E349K 1045G>A BRCA-US 16 30941589 30941589 single base substitution G A missense_variant E37K 109G>A BRCA-US 16 30958079 30958079 single base substitution G A intron_variant BRCA-US 16 30958079 30958079 single base substitution G A synonymous_variant Q260Q 780G>A BRCA-US 16 30958079 30958079 single base substitution G A synonymous_variant Q436Q 1308G>A BRCA-US 16 30958079 30958079 single base substitution G A synonymous_variant Q463Q 1389G>A BRCA-US 16 30958079 30958079 single base substitution G A synonymous_variant Q552Q 1656G>A BRCA-US 16 30958079 30958079 single base substitution G A synonymous_variant Q572Q 1716G>A BRCA-US 16 30958079 30958079 single base substitution G A synonymous_variant Q63Q 189G>A BTCA-JP 16 30939107 30939107 single base substitution C T 5_prime_UTR_variant BTCA-JP 16 30939107 30939107 single base substitution C T downstream_gene_variant BTCA-JP 16 30939107 30939107 single base substitution C T intron_variant BTCA-JP 16 30939107 30939107 single base substitution C T synonymous_variant G104G 312C>T BTCA-JP 16 30939107 30939107 single base substitution C T synonymous_variant G150G 450C>T BTCA-JP 16 30939107 30939107 single base substitution C T synonymous_variant G170G 510C>T BTCA-JP 16 30939204 30939204 deletion of <=200bp C - 5_prime_UTR_variant BTCA-JP 16 30939204 30939204 deletion of <=200bp C - downstream_gene_variant BTCA-JP 16 30939204 30939204 deletion of <=200bp C - frameshift_variant P137 BTCA-JP 16 30939204 30939204 deletion of <=200bp C - frameshift_variant P183 BTCA-JP 16 30939204 30939204 deletion of <=200bp C - frameshift_variant P203 BTCA-JP 16 30939204 30939204 deletion of <=200bp C - intron_variant BTCA-JP 16 30941596 30941596 single base substitution G A downstream_gene_variant BTCA-JP 16 30941596 30941596 single base substitution G A missense_variant R215Q 644G>A BTCA-JP 16 30941596 30941596 single base substitution G A missense_variant R242Q 725G>A BTCA-JP 16 30941596 30941596 single base substitution G A missense_variant R331Q 992G>A BTCA-JP 16 30941596 30941596 single base substitution G A missense_variant R351Q 1052G>A BTCA-JP 16 30941596 30941596 single base substitution G A missense_variant R39Q 116G>A BTCA-JP 16 30941820 30941820 single base substitution C T downstream_gene_variant BTCA-JP 16 30941820 30941820 single base substitution C T missense_variant R114W 340C>T BTCA-JP 16 30941820 30941820 single base substitution C T missense_variant R290W 868C>T BTCA-JP 16 30941820 30941820 single base substitution C T missense_variant R317W 949C>T BTCA-JP 16 30941820 30941820 single base substitution C T missense_variant R406W 1216C>T BTCA-JP 16 30941820 30941820 single base substitution C T missense_variant R426W 1276C>T BTCA-JP 16 30959283 30959283 single base substitution C T 3_prime_UTR_variant BTCA-JP 16 30959283 30959283 single base substitution C T downstream_gene_variant CESC-US 16 30932382 30932382 single base substitution G T upstream_gene_variant CESC-US 16 30934042 30934042 single base substitution C T upstream_gene_variant CESC-US 16 30934103 30934103 single base substitution C G upstream_gene_variant CESC-US 16 30934304 30934304 single base substitution G A upstream_gene_variant CESC-US 16 30934378 30934378 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant CESC-US 16 30934378 30934378 single base substitution C G upstream_gene_variant CESC-US 16 30937143 30937143 single base substitution G A 5_prime_UTR_variant CESC-US 16 30937143 30937143 single base substitution G A missense_variant R23Q 68G>A CESC-US 16 30937143 30937143 single base substitution G A missense_variant R43Q 128G>A CESC-US 16 30937143 30937143 single base substitution G A upstream_gene_variant CESC-US 16 30964697 30964697 single base substitution C T downstream_gene_variant CLLE-ES 16 30929845 30929845 single base substitution T C upstream_gene_variant CLLE-ES 16 30937066 30937066 single base substitution G A 5_prime_UTR_variant CLLE-ES 16 30937066 30937066 single base substitution G A intron_variant CLLE-ES 16 30937066 30937066 single base substitution G A synonymous_variant L17L 51G>A CLLE-ES 16 30937066 30937066 single base substitution G A upstream_gene_variant CLLE-ES 16 30938363 30938363 single base substitution G C downstream_gene_variant CLLE-ES 16 30938363 30938363 single base substitution G C intron_variant COAD-US 16 30936081 30936081 single base substitution G A 5_prime_UTR_variant COAD-US 16 30936081 30936081 single base substitution G A intron_variant COAD-US 16 30936081 30936081 single base substitution G A missense_variant E10K 28G>A COAD-US 16 30936081 30936081 single base substitution G A upstream_gene_variant COAD-US 16 30938631 30938631 single base substitution C T downstream_gene_variant COAD-US 16 30938631 30938631 single base substitution C T splice_region_variant COAD-US 16 30939188 30939188 single base substitution C T 5_prime_UTR_variant COAD-US 16 30939188 30939188 single base substitution C T downstream_gene_variant COAD-US 16 30939188 30939188 single base substitution C T intron_variant COAD-US 16 30939188 30939188 single base substitution C T synonymous_variant G131G 393C>T COAD-US 16 30939188 30939188 single base substitution C T synonymous_variant G177G 531C>T COAD-US 16 30939188 30939188 single base substitution C T synonymous_variant G197G 591C>T COAD-US 16 30939906 30939906 single base substitution C A 5_prime_UTR_variant COAD-US 16 30939906 30939906 single base substitution C A downstream_gene_variant COAD-US 16 30939906 30939906 single base substitution C A intron_variant COAD-US 16 30939906 30939906 single base substitution C A missense_variant A249D 746C>A COAD-US 16 30939906 30939906 single base substitution C A missense_variant A269D 806C>A COAD-US 16 30958096 30958096 single base substitution G A intron_variant COAD-US 16 30958096 30958096 single base substitution G A missense_variant R266H 797G>A COAD-US 16 30958096 30958096 single base substitution G A missense_variant R442H 1325G>A COAD-US 16 30958096 30958096 single base substitution G A missense_variant R469H 1406G>A COAD-US 16 30958096 30958096 single base substitution G A missense_variant R558H 1673G>A COAD-US 16 30958096 30958096 single base substitution G A missense_variant R578H 1733G>A COAD-US 16 30958096 30958096 single base substitution G A missense_variant R69H 206G>A COAD-US 16 30958105 30958105 single base substitution G A intron_variant COAD-US 16 30958105 30958105 single base substitution G A missense_variant G269D 806G>A COAD-US 16 30958105 30958105 single base substitution G A missense_variant G445D 1334G>A COAD-US 16 30958105 30958105 single base substitution G A missense_variant G472D 1415G>A COAD-US 16 30958105 30958105 single base substitution G A missense_variant G561D 1682G>A COAD-US 16 30958105 30958105 single base substitution G A missense_variant G581D 1742G>A COAD-US 16 30958105 30958105 single base substitution G A missense_variant G72D 215G>A COCA-CN 16 30938847 30938847 single base substitution T G downstream_gene_variant COCA-CN 16 30938847 30938847 single base substitution T G intron_variant COCA-CN 16 30941534 30941534 single base substitution A C downstream_gene_variant COCA-CN 16 30941534 30941534 single base substitution A C synonymous_variant S18S 54A>C COCA-CN 16 30941534 30941534 single base substitution A C synonymous_variant S194S 582A>C COCA-CN 16 30941534 30941534 single base substitution A C synonymous_variant S221S 663A>C COCA-CN 16 30941534 30941534 single base substitution A C synonymous_variant S310S 930A>C COCA-CN 16 30941534 30941534 single base substitution A C synonymous_variant S330S 990A>C COCA-CN 16 30953732 30953732 single base substitution T G missense_variant L12R 35T>G COCA-CN 16 30953732 30953732 single base substitution T G missense_variant L209R 626T>G COCA-CN 16 30953732 30953732 single base substitution T G missense_variant L385R 1154T>G COCA-CN 16 30953732 30953732 single base substitution T G missense_variant L412R 1235T>G COCA-CN 16 30953732 30953732 single base substitution T G missense_variant L501R 1502T>G COCA-CN 16 30953732 30953732 single base substitution T G missense_variant L521R 1562T>G COCA-CN 16 30953732 30953732 single base substitution T G upstream_gene_variant COCA-CN 16 30958172 30958172 single base substitution C A missense_variant D291E 873C>A COCA-CN 16 30958172 30958172 single base substitution C A missense_variant D467E 1401C>A COCA-CN 16 30958172 30958172 single base substitution C A missense_variant D494E 1482C>A COCA-CN 16 30958172 30958172 single base substitution C A missense_variant D583E 1749C>A COCA-CN 16 30958172 30958172 single base substitution C A missense_variant D603E 1809C>A COCA-CN 16 30958172 30958172 single base substitution C A missense_variant D94E 282C>A COCA-CN 16 30958172 30958172 single base substitution C A missense_variant P40T 118C>A EOPC-DE 16 30939430 30939430 single base substitution T G downstream_gene_variant EOPC-DE 16 30939430 30939430 single base substitution T G intron_variant EOPC-DE 16 30940107 30940107 single base substitution T G downstream_gene_variant EOPC-DE 16 30940107 30940107 single base substitution T G intron_variant ESAD-UK 16 30931218 30931218 single base substitution T G upstream_gene_variant ESAD-UK 16 30939568 30939568 single base substitution G A downstream_gene_variant ESAD-UK 16 30939568 30939568 single base substitution G A intron_variant ESAD-UK 16 30940948 30940948 single base substitution C T downstream_gene_variant ESAD-UK 16 30940948 30940948 single base substitution C T intron_variant ESAD-UK 16 30941193 30941193 single base substitution C T downstream_gene_variant ESAD-UK 16 30941193 30941193 single base substitution C T intron_variant ESAD-UK 16 30941291 30941291 single base substitution G C downstream_gene_variant ESAD-UK 16 30941291 30941291 single base substitution G C intron_variant ESAD-UK 16 30943164 30943164 single base substitution C T intron_variant ESAD-UK 16 30945325 30945325 single base substitution C T intron_variant ESAD-UK 16 30948518 30948518 single base substitution C T intron_variant ESAD-UK 16 30949039 30949039 single base substitution G A intron_variant ESAD-UK 16 30949039 30949039 single base substitution G A upstream_gene_variant ESAD-UK 16 30950730 30950730 single base substitution G T intron_variant ESAD-UK 16 30950730 30950730 single base substitution G T upstream_gene_variant ESAD-UK 16 30950731 30950731 single base substitution T G intron_variant ESAD-UK 16 30950731 30950731 single base substitution T G upstream_gene_variant ESAD-UK 16 30951921 30951921 single base substitution G A intron_variant ESAD-UK 16 30951921 30951921 single base substitution G A upstream_gene_variant ESAD-UK 16 30952934 30952934 single base substitution G A intron_variant ESAD-UK 16 30952934 30952934 single base substitution G A upstream_gene_variant ESAD-UK 16 30953737 30953737 single base substitution G C missense_variant V14L 40G>C ESAD-UK 16 30953737 30953737 single base substitution G C missense_variant V211L 631G>C ESAD-UK 16 30953737 30953737 single base substitution G C missense_variant V387L 1159G>C ESAD-UK 16 30953737 30953737 single base substitution G C missense_variant V414L 1240G>C ESAD-UK 16 30953737 30953737 single base substitution G C missense_variant V503L 1507G>C ESAD-UK 16 30953737 30953737 single base substitution G C missense_variant V523L 1567G>C ESAD-UK 16 30953737 30953737 single base substitution G C upstream_gene_variant ESAD-UK 16 30958277 30958277 single base substitution C T splice_region_variant ESAD-UK 16 30960403 30960403 single base substitution C T downstream_gene_variant ESAD-UK 16 30963974 30963974 deletion of <=200bp T - downstream_gene_variant ESAD-UK 16 30964602 30964602 single base substitution C T downstream_gene_variant ESAD-UK 16 30964711 30964711 single base substitution G A downstream_gene_variant ESAD-UK 16 30964921 30964921 single base substitution C T downstream_gene_variant ESCA-CN 16 30936068 30936068 single base substitution C T 5_prime_UTR_variant ESCA-CN 16 30936068 30936068 single base substitution C T intron_variant ESCA-CN 16 30936068 30936068 single base substitution C T synonymous_variant V5V 15C>T ESCA-CN 16 30936068 30936068 single base substitution C T upstream_gene_variant ESCA-CN 16 30937134 30937134 single base substitution G A 5_prime_UTR_variant ESCA-CN 16 30937134 30937134 single base substitution G A missense_variant R20H 59G>A ESCA-CN 16 30937134 30937134 single base substitution G A missense_variant R40H 119G>A ESCA-CN 16 30937134 30937134 single base substitution G A upstream_gene_variant GBM-US 16 30958480 30958480 single base substitution C T intron_variant GBM-US 16 30958480 30958480 single base substitution C T missense_variant P108L 323C>T GBM-US 16 30958480 30958480 single base substitution C T missense_variant R360W 1078C>T GBM-US 16 30958480 30958480 single base substitution C T missense_variant R536W 1606C>T GBM-US 16 30958480 30958480 single base substitution C T missense_variant R563W 1687C>T GBM-US 16 30958480 30958480 single base substitution C T missense_variant R652W 1954C>T GBM-US 16 30958480 30958480 single base substitution C T missense_variant R672W 2014C>T GBM-US 16 30960835 30960835 single base substitution C T downstream_gene_variant KIRC-US 16 30939867 30939867 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant KIRC-US 16 30939867 30939867 single base substitution C T downstream_gene_variant KIRC-US 16 30939867 30939867 single base substitution C T intron_variant KIRC-US 16 30939867 30939867 single base substitution C T missense_variant P236L 707C>T KIRC-US 16 30939867 30939867 single base substitution C T missense_variant P256L 767C>T LAML-KR 16 30930888 30930888 single base substitution T C upstream_gene_variant LAML-KR 16 30930894 30930894 single base substitution T C upstream_gene_variant LAML-KR 16 30950537 30950537 single base substitution T C intron_variant LAML-KR 16 30950537 30950537 single base substitution T C upstream_gene_variant LAML-KR 16 30950542 30950542 single base substitution G T intron_variant LAML-KR 16 30950542 30950542 single base substitution G T upstream_gene_variant LGG-US 16 30939204 30939204 deletion of <=200bp C - 5_prime_UTR_variant LGG-US 16 30939204 30939204 deletion of <=200bp C - downstream_gene_variant LGG-US 16 30939204 30939204 deletion of <=200bp C - frameshift_variant P137 LGG-US 16 30939204 30939204 deletion of <=200bp C - frameshift_variant P183 LGG-US 16 30939204 30939204 deletion of <=200bp C - frameshift_variant P203 LGG-US 16 30939204 30939204 deletion of <=200bp C - intron_variant LICA-CN 16 30964626 30964626 single base substitution A T downstream_gene_variant LICA-FR 16 30937100 30937100 single base substitution G A 5_prime_UTR_variant LICA-FR 16 30937100 30937100 single base substitution G A missense_variant G29R 85G>A LICA-FR 16 30937100 30937100 single base substitution G A missense_variant G9R 25G>A LICA-FR 16 30937100 30937100 single base substitution G A upstream_gene_variant LICA-FR 16 30941465 30941465 single base substitution A T 5_prime_UTR_premature_start_codon_gain_variant LICA-FR 16 30941465 30941465 single base substitution A T downstream_gene_variant LICA-FR 16 30941465 30941465 single base substitution A T synonymous_variant L171L 513A>T LICA-FR 16 30941465 30941465 single base substitution A T synonymous_variant L198L 594A>T LICA-FR 16 30941465 30941465 single base substitution A T synonymous_variant L287L 861A>T LICA-FR 16 30941465 30941465 single base substitution A T synonymous_variant L307L 921A>T LICA-FR 16 30941858 30941858 single base substitution G A downstream_gene_variant LICA-FR 16 30941858 30941858 single base substitution G A synonymous_variant P126P 378G>A LICA-FR 16 30941858 30941858 single base substitution G A synonymous_variant P302P 906G>A LICA-FR 16 30941858 30941858 single base substitution G A synonymous_variant P329P 987G>A LICA-FR 16 30941858 30941858 single base substitution G A synonymous_variant P418P 1254G>A LICA-FR 16 30941858 30941858 single base substitution G A synonymous_variant P438P 1314G>A LICA-FR 16 30964679 30964679 single base substitution T A downstream_gene_variant LIHC-US 16 30939817 30939817 single base substitution G A 5_prime_UTR_variant LIHC-US 16 30939817 30939817 single base substitution G A downstream_gene_variant LIHC-US 16 30939817 30939817 single base substitution G A synonymous_variant K146K 438G>A LIHC-US 16 30939817 30939817 single base substitution G A synonymous_variant K173K 519G>A LIHC-US 16 30939817 30939817 single base substitution G A synonymous_variant K219K 657G>A LIHC-US 16 30939817 30939817 single base substitution G A synonymous_variant K239K 717G>A LIHC-US 16 30958514 30958514 single base substitution G A intron_variant LIHC-US 16 30958514 30958514 single base substitution G A missense_variant R371H 1112G>A LIHC-US 16 30958514 30958514 single base substitution G A missense_variant R547H 1640G>A LIHC-US 16 30958514 30958514 single base substitution G A missense_variant R574H 1721G>A LIHC-US 16 30958514 30958514 single base substitution G A missense_variant R663H 1988G>A LIHC-US 16 30958514 30958514 single base substitution G A missense_variant R683H 2048G>A LIHC-US 16 30958514 30958514 single base substitution G A synonymous_variant P119P 357G>A LIHC-US 16 30965031 30965031 single base substitution A G downstream_gene_variant LINC-JP 16 30934364 30934364 single base substitution C T upstream_gene_variant LINC-JP 16 30936024 30936024 single base substitution G T 5_prime_UTR_premature_start_codon_gain_variant LINC-JP 16 30936024 30936024 single base substitution G T intron_variant LINC-JP 16 30936024 30936024 single base substitution G T upstream_gene_variant LINC-JP 16 30937113 30937113 single base substitution G A 5_prime_UTR_variant LINC-JP 16 30937113 30937113 single base substitution G A missense_variant R13H 38G>A LINC-JP 16 30937113 30937113 single base substitution G A missense_variant R33H 98G>A LINC-JP 16 30937113 30937113 single base substitution G A upstream_gene_variant LINC-JP 16 30942031 30942031 single base substitution C G downstream_gene_variant LINC-JP 16 30942031 30942031 single base substitution C G intron_variant LINC-JP 16 30944452 30944452 single base substitution G T intron_variant LINC-JP 16 30950741 30950741 single base substitution T G intron_variant LINC-JP 16 30950741 30950741 single base substitution T G upstream_gene_variant LINC-JP 16 30956517 30956517 single base substitution C A intron_variant LINC-JP 16 30960444 30960444 single base substitution G C downstream_gene_variant LINC-JP 16 30965033 30965033 single base substitution G A downstream_gene_variant LIRI-JP 16 30936713 30936713 single base substitution C T intron_variant LIRI-JP 16 30936713 30936713 single base substitution C T upstream_gene_variant LIRI-JP 16 30939555 30939555 single base substitution C T downstream_gene_variant LIRI-JP 16 30939555 30939555 single base substitution C T intron_variant LIRI-JP 16 30941153 30941153 single base substitution G A downstream_gene_variant LIRI-JP 16 30941153 30941153 single base substitution G A intron_variant LIRI-JP 16 30943491 30943491 single base substitution G C intron_variant LIRI-JP 16 30946874 30946874 single base substitution G A intron_variant LIRI-JP 16 30948367 30948367 single base substitution C T intron_variant LIRI-JP 16 30952209 30952209 single base substitution C T intron_variant LIRI-JP 16 30952209 30952209 single base substitution C T upstream_gene_variant LIRI-JP 16 30962230 30962230 single base substitution A G downstream_gene_variant LUSC-KR 16 30931882 30931882 single base substitution C T upstream_gene_variant LUSC-KR 16 30934072 30934072 single base substitution G A upstream_gene_variant LUSC-KR 16 30934729 30934729 single base substitution C T intron_variant LUSC-KR 16 30934729 30934729 single base substitution C T upstream_gene_variant LUSC-KR 16 30936623 30936623 single base substitution A T intron_variant LUSC-KR 16 30936623 30936623 single base substitution A T upstream_gene_variant LUSC-KR 16 30948989 30948989 single base substitution C T intron_variant LUSC-KR 16 30948989 30948989 single base substitution C T upstream_gene_variant LUSC-KR 16 30949025 30949025 single base substitution G A intron_variant LUSC-KR 16 30949025 30949025 single base substitution G A upstream_gene_variant LUSC-KR 16 30954773 30954773 single base substitution G C intron_variant LUSC-KR 16 30954774 30954774 single base substitution C T intron_variant LUSC-KR 16 30957794 30957794 single base substitution A T intron_variant LUSC-KR 16 30961166 30961166 single base substitution A T downstream_gene_variant LUSC-US 16 30939884 30939884 single base substitution A T 5_prime_UTR_premature_start_codon_gain_variant LUSC-US 16 30939884 30939884 single base substitution A T downstream_gene_variant LUSC-US 16 30939884 30939884 single base substitution A T intron_variant LUSC-US 16 30939884 30939884 single base substitution A T missense_variant R242W 724A>T LUSC-US 16 30939884 30939884 single base substitution A T missense_variant R262W 784A>T LUSC-US 16 30941629 30941629 single base substitution G T downstream_gene_variant LUSC-US 16 30941629 30941629 single base substitution G T missense_variant G226V 677G>T LUSC-US 16 30941629 30941629 single base substitution G T missense_variant G253V 758G>T LUSC-US 16 30941629 30941629 single base substitution G T missense_variant G342V 1025G>T LUSC-US 16 30941629 30941629 single base substitution G T missense_variant G362V 1085G>T LUSC-US 16 30941629 30941629 single base substitution G T missense_variant G50V 149G>T LUSC-US 16 30964632 30964632 single base substitution C A downstream_gene_variant MALY-DE 16 30930082 30930082 single base substitution C T upstream_gene_variant MALY-DE 16 30930245 30930245 single base substitution T C upstream_gene_variant MALY-DE 16 30930248 30930248 single base substitution T C upstream_gene_variant MALY-DE 16 30930254 30930254 single base substitution T C upstream_gene_variant MALY-DE 16 30930801 30930801 single base substitution T C upstream_gene_variant MALY-DE 16 30938604 30938604 single base substitution C T downstream_gene_variant MALY-DE 16 30938604 30938604 single base substitution C T intron_variant MALY-DE 16 30946618 30946618 single base substitution G A intron_variant MALY-DE 16 30947697 30947697 single base substitution C G intron_variant MALY-DE 16 30958132 30958132 single base substitution G A intron_variant MALY-DE 16 30958132 30958132 single base substitution G A missense_variant R278H 833G>A MALY-DE 16 30958132 30958132 single base substitution G A missense_variant R454H 1361G>A MALY-DE 16 30958132 30958132 single base substitution G A missense_variant R481H 1442G>A MALY-DE 16 30958132 30958132 single base substitution G A missense_variant R570H 1709G>A MALY-DE 16 30958132 30958132 single base substitution G A missense_variant R590H 1769G>A MALY-DE 16 30958132 30958132 single base substitution G A missense_variant R81H 242G>A MELA-AU 16 30929668 30929668 single base substitution G T upstream_gene_variant MELA-AU 16 30929684 30929684 single base substitution A G upstream_gene_variant MELA-AU 16 30929695 30929695 single base substitution C T upstream_gene_variant MELA-AU 16 30930091 30930091 single base substitution C T upstream_gene_variant MELA-AU 16 30930245 30930245 single base substitution T C upstream_gene_variant MELA-AU 16 30930254 30930254 single base substitution T C upstream_gene_variant MELA-AU 16 30930257 30930257 single base substitution T C upstream_gene_variant MELA-AU 16 30930274 30930274 single base substitution T C upstream_gene_variant MELA-AU 16 30930277 30930277 single base substitution T C upstream_gene_variant MELA-AU 16 30930413 30930413 single base substitution G A upstream_gene_variant MELA-AU 16 30930546 30930546 single base substitution G A upstream_gene_variant MELA-AU 16 30930757 30930757 single base substitution G A upstream_gene_variant MELA-AU 16 30931945 30931945 single base substitution G A upstream_gene_variant MELA-AU 16 30931974 30931974 single base substitution C T upstream_gene_variant MELA-AU 16 30931987 30931987 single base substitution G A upstream_gene_variant MELA-AU 16 30931994 30931995 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 16 30932936 30932936 single base substitution C T upstream_gene_variant MELA-AU 16 30933429 30933429 single base substitution G A upstream_gene_variant MELA-AU 16 30933826 30933826 single base substitution C T upstream_gene_variant MELA-AU 16 30933836 30933836 single base substitution C T upstream_gene_variant MELA-AU 16 30933914 30933914 single base substitution G A upstream_gene_variant MELA-AU 16 30933968 30933968 single base substitution C T upstream_gene_variant MELA-AU 16 30933999 30933999 single base substitution G A upstream_gene_variant MELA-AU 16 30934063 30934063 single base substitution A G upstream_gene_variant MELA-AU 16 30934078 30934078 single base substitution C T upstream_gene_variant MELA-AU 16 30934368 30934368 single base substitution C T upstream_gene_variant MELA-AU 16 30934397 30934397 single base substitution C T 5_prime_UTR_variant MELA-AU 16 30934397 30934397 single base substitution C T upstream_gene_variant MELA-AU 16 30934637 30934637 single base substitution C T intron_variant MELA-AU 16 30934637 30934637 single base substitution C T upstream_gene_variant MELA-AU 16 30934640 30934640 single base substitution G A intron_variant MELA-AU 16 30934640 30934640 single base substitution G A upstream_gene_variant MELA-AU 16 30934645 30934645 single base substitution C T intron_variant MELA-AU 16 30934645 30934645 single base substitution C T upstream_gene_variant MELA-AU 16 30934649 30934649 single base substitution C T intron_variant MELA-AU 16 30934649 30934649 single base substitution C T upstream_gene_variant MELA-AU 16 30934662 30934662 single base substitution C T intron_variant MELA-AU 16 30934662 30934662 single base substitution C T upstream_gene_variant MELA-AU 16 30934710 30934710 single base substitution C T intron_variant MELA-AU 16 30934710 30934710 single base substitution C T upstream_gene_variant MELA-AU 16 30934720 30934720 single base substitution C T intron_variant MELA-AU 16 30934720 30934720 single base substitution C T upstream_gene_variant MELA-AU 16 30934764 30934764 single base substitution C T intron_variant MELA-AU 16 30934764 30934764 single base substitution C T upstream_gene_variant MELA-AU 16 30934936 30934936 single base substitution G A intron_variant MELA-AU 16 30934936 30934936 single base substitution G A upstream_gene_variant MELA-AU 16 30935752 30935752 single base substitution G A 5_prime_UTR_variant MELA-AU 16 30935752 30935752 single base substitution G A intron_variant MELA-AU 16 30935752 30935752 single base substitution G A upstream_gene_variant MELA-AU 16 30936069 30936069 single base substitution C T 5_prime_UTR_variant MELA-AU 16 30936069 30936069 single base substitution C T intron_variant MELA-AU 16 30936069 30936069 single base substitution C T missense_variant P6S 16C>T MELA-AU 16 30936069 30936069 single base substitution C T upstream_gene_variant MELA-AU 16 30936532 30936532 single base substitution C T intron_variant MELA-AU 16 30936532 30936532 single base substitution C T upstream_gene_variant MELA-AU 16 30936940 30936940 single base substitution C T intron_variant MELA-AU 16 30936940 30936940 single base substitution C T upstream_gene_variant MELA-AU 16 30937509 30937509 single base substitution G A downstream_gene_variant MELA-AU 16 30937509 30937509 single base substitution G A intron_variant MELA-AU 16 30937525 30937525 single base substitution C T downstream_gene_variant MELA-AU 16 30937525 30937525 single base substitution C T intron_variant MELA-AU 16 30937992 30937992 single base substitution C T downstream_gene_variant MELA-AU 16 30937992 30937992 single base substitution C T intron_variant MELA-AU 16 30938444 30938444 single base substitution G A downstream_gene_variant MELA-AU 16 30938444 30938444 single base substitution G A intron_variant MELA-AU 16 30938485 30938485 single base substitution C T downstream_gene_variant MELA-AU 16 30938485 30938485 single base substitution C T intron_variant MELA-AU 16 30938543 30938543 single base substitution C T downstream_gene_variant MELA-AU 16 30938543 30938543 single base substitution C T intron_variant MELA-AU 16 30938580 30938580 single base substitution C T downstream_gene_variant MELA-AU 16 30938580 30938580 single base substitution C T intron_variant MELA-AU 16 30939267 30939267 single base substitution C T 5_prime_UTR_variant MELA-AU 16 30939267 30939267 single base substitution C T downstream_gene_variant MELA-AU 16 30939267 30939267 single base substitution C T intron_variant MELA-AU 16 30939267 30939267 single base substitution C T missense_variant P158S 472C>T MELA-AU 16 30939267 30939267 single base substitution C T missense_variant P204S 610C>T MELA-AU 16 30939267 30939267 single base substitution C T missense_variant P224S 670C>T MELA-AU 16 30939756 30939756 single base substitution C T downstream_gene_variant MELA-AU 16 30939756 30939756 single base substitution C T intron_variant MELA-AU 16 30941105 30941105 single base substitution G A downstream_gene_variant MELA-AU 16 30941105 30941105 single base substitution G A intron_variant MELA-AU 16 30941361 30941361 single base substitution C T downstream_gene_variant MELA-AU 16 30941361 30941361 single base substitution C T intron_variant MELA-AU 16 30941563 30941563 single base substitution C T downstream_gene_variant MELA-AU 16 30941563 30941563 single base substitution C T missense_variant S204L 611C>T MELA-AU 16 30941563 30941563 single base substitution C T missense_variant S231L 692C>T MELA-AU 16 30941563 30941563 single base substitution C T missense_variant S28L 83C>T MELA-AU 16 30941563 30941563 single base substitution C T missense_variant S320L 959C>T MELA-AU 16 30941563 30941563 single base substitution C T missense_variant S340L 1019C>T MELA-AU 16 30941699 30941699 single base substitution C G downstream_gene_variant MELA-AU 16 30941699 30941699 single base substitution C G synonymous_variant P249P 747C>G MELA-AU 16 30941699 30941699 single base substitution C G synonymous_variant P276P 828C>G MELA-AU 16 30941699 30941699 single base substitution C G synonymous_variant P365P 1095C>G MELA-AU 16 30941699 30941699 single base substitution C G synonymous_variant P385P 1155C>G MELA-AU 16 30941699 30941699 single base substitution C G synonymous_variant P73P 219C>G MELA-AU 16 30941852 30941852 single base substitution C T downstream_gene_variant MELA-AU 16 30941852 30941852 single base substitution C T synonymous_variant L124L 372C>T MELA-AU 16 30941852 30941852 single base substitution C T synonymous_variant L300L 900C>T MELA-AU 16 30941852 30941852 single base substitution C T synonymous_variant L327L 981C>T MELA-AU 16 30941852 30941852 single base substitution C T synonymous_variant L416L 1248C>T MELA-AU 16 30941852 30941852 single base substitution C T synonymous_variant L436L 1308C>T MELA-AU 16 30941933 30941933 single base substitution C T downstream_gene_variant MELA-AU 16 30941933 30941933 single base substitution C T intron_variant MELA-AU 16 30942362 30942362 single base substitution C T intron_variant MELA-AU 16 30942558 30942558 single base substitution C T intron_variant MELA-AU 16 30943319 30943319 single base substitution C T intron_variant MELA-AU 16 30943977 30943977 single base substitution C T intron_variant MELA-AU 16 30944026 30944026 single base substitution G A intron_variant MELA-AU 16 30944139 30944139 single base substitution G A intron_variant MELA-AU 16 30944485 30944485 single base substitution C T intron_variant MELA-AU 16 30944803 30944803 single base substitution C T intron_variant MELA-AU 16 30945114 30945114 single base substitution C T intron_variant MELA-AU 16 30946321 30946321 single base substitution G A intron_variant MELA-AU 16 30946470 30946470 single base substitution G A intron_variant MELA-AU 16 30946511 30946511 single base substitution C T intron_variant MELA-AU 16 30947229 30947229 single base substitution C T intron_variant MELA-AU 16 30947786 30947786 single base substitution C T intron_variant MELA-AU 16 30948173 30948173 single base substitution C T intron_variant MELA-AU 16 30948250 30948250 single base substitution G A intron_variant MELA-AU 16 30948303 30948303 single base substitution C T intron_variant MELA-AU 16 30948343 30948343 single base substitution G A intron_variant MELA-AU 16 30948629 30948629 single base substitution C T intron_variant MELA-AU 16 30948722 30948722 single base substitution G A intron_variant MELA-AU 16 30948722 30948722 single base substitution G A upstream_gene_variant MELA-AU 16 30948876 30948876 single base substitution C T intron_variant MELA-AU 16 30948876 30948876 single base substitution C T upstream_gene_variant MELA-AU 16 30949584 30949584 single base substitution C T intron_variant MELA-AU 16 30949584 30949584 single base substitution C T upstream_gene_variant MELA-AU 16 30949711 30949711 single base substitution C T intron_variant MELA-AU 16 30949711 30949711 single base substitution C T upstream_gene_variant MELA-AU 16 30949902 30949902 single base substitution C T intron_variant MELA-AU 16 30949902 30949902 single base substitution C T upstream_gene_variant MELA-AU 16 30949996 30949996 single base substitution C T intron_variant MELA-AU 16 30949996 30949996 single base substitution C T upstream_gene_variant MELA-AU 16 30950741 30950742 multiple base substitution (>=2bp and <=200bp) TG GT intron_variant MELA-AU 16 30950741 30950742 multiple base substitution (>=2bp and <=200bp) TG GT upstream_gene_variant MELA-AU 16 30951281 30951281 single base substitution A G intron_variant MELA-AU 16 30951281 30951281 single base substitution A G upstream_gene_variant MELA-AU 16 30951836 30951836 single base substitution A G intron_variant MELA-AU 16 30951836 30951836 single base substitution A G upstream_gene_variant MELA-AU 16 30952097 30952097 single base substitution C T intron_variant MELA-AU 16 30952097 30952097 single base substitution C T upstream_gene_variant MELA-AU 16 30952334 30952334 single base substitution T G intron_variant MELA-AU 16 30952334 30952334 single base substitution T G upstream_gene_variant MELA-AU 16 30953276 30953276 single base substitution C T intron_variant MELA-AU 16 30953276 30953276 single base substitution C T upstream_gene_variant MELA-AU 16 30953420 30953420 single base substitution C T intron_variant MELA-AU 16 30953420 30953420 single base substitution C T upstream_gene_variant MELA-AU 16 30953823 30953823 single base substitution G A synonymous_variant R239R 717G>A MELA-AU 16 30953823 30953823 single base substitution G A synonymous_variant R23R 69G>A MELA-AU 16 30953823 30953823 single base substitution G A synonymous_variant R415R 1245G>A MELA-AU 16 30953823 30953823 single base substitution G A synonymous_variant R42R 126G>A MELA-AU 16 30953823 30953823 single base substitution G A synonymous_variant R442R 1326G>A MELA-AU 16 30953823 30953823 single base substitution G A synonymous_variant R531R 1593G>A MELA-AU 16 30953823 30953823 single base substitution G A synonymous_variant R551R 1653G>A MELA-AU 16 30954348 30954348 single base substitution C T intron_variant MELA-AU 16 30955023 30955023 single base substitution C T intron_variant MELA-AU 16 30955579 30955579 single base substitution G A intron_variant MELA-AU 16 30955610 30955610 single base substitution C T intron_variant MELA-AU 16 30955720 30955720 single base substitution C T intron_variant MELA-AU 16 30956027 30956027 single base substitution C T intron_variant MELA-AU 16 30956087 30956087 single base substitution C T intron_variant MELA-AU 16 30958461 30958461 single base substitution C T intron_variant MELA-AU 16 30958461 30958461 single base substitution C T missense_variant L102F 304C>T MELA-AU 16 30958461 30958461 single base substitution C T synonymous_variant L353L 1059C>T MELA-AU 16 30958461 30958461 single base substitution C T synonymous_variant L529L 1587C>T MELA-AU 16 30958461 30958461 single base substitution C T synonymous_variant L556L 1668C>T MELA-AU 16 30958461 30958461 single base substitution C T synonymous_variant L645L 1935C>T MELA-AU 16 30958461 30958461 single base substitution C T synonymous_variant L665L 1995C>T MELA-AU 16 30959737 30959737 single base substitution C T 3_prime_UTR_variant MELA-AU 16 30959737 30959737 single base substitution C T downstream_gene_variant MELA-AU 16 30961451 30961451 single base substitution A G downstream_gene_variant MELA-AU 16 30962338 30962338 single base substitution C T downstream_gene_variant MELA-AU 16 30963496 30963497 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 16 30963830 30963830 single base substitution C T downstream_gene_variant MELA-AU 16 30964499 30964499 single base substitution C T downstream_gene_variant MELA-AU 16 30964778 30964778 single base substitution C T downstream_gene_variant MELA-AU 16 30964789 30964789 single base substitution G C downstream_gene_variant MELA-AU 16 30964993 30964993 single base substitution G A downstream_gene_variant ORCA-IN 16 30930169 30930169 single base substitution C T upstream_gene_variant ORCA-IN 16 30933183 30933183 single base substitution C G upstream_gene_variant ORCA-IN 16 30941856 30941856 single base substitution C A downstream_gene_variant ORCA-IN 16 30941856 30941856 single base substitution C A missense_variant P126T 376C>A ORCA-IN 16 30941856 30941856 single base substitution C A missense_variant P302T 904C>A ORCA-IN 16 30941856 30941856 single base substitution C A missense_variant P329T 985C>A ORCA-IN 16 30941856 30941856 single base substitution C A missense_variant P418T 1252C>A ORCA-IN 16 30941856 30941856 single base substitution C A missense_variant P438T 1312C>A ORCA-IN 16 30953569 30953569 single base substitution G T missense_variant K186N 558G>T ORCA-IN 16 30953569 30953569 single base substitution G T missense_variant K362N 1086G>T ORCA-IN 16 30953569 30953569 single base substitution G T missense_variant K389N 1167G>T ORCA-IN 16 30953569 30953569 single base substitution G T missense_variant K478N 1434G>T ORCA-IN 16 30953569 30953569 single base substitution G T missense_variant K498N 1494G>T ORCA-IN 16 30953569 30953569 single base substitution G T upstream_gene_variant ORCA-IN 16 30953843 30953843 single base substitution C G missense_variant P246R 737C>G ORCA-IN 16 30953843 30953843 single base substitution C G missense_variant P30R 89C>G ORCA-IN 16 30953843 30953843 single base substitution C G missense_variant P422R 1265C>G ORCA-IN 16 30953843 30953843 single base substitution C G missense_variant P449R 1346C>G ORCA-IN 16 30953843 30953843 single base substitution C G missense_variant P49R 146C>G ORCA-IN 16 30953843 30953843 single base substitution C G missense_variant P538R 1613C>G ORCA-IN 16 30953843 30953843 single base substitution C G missense_variant P558R 1673C>G ORCA-IN 16 30958403 30958403 single base substitution C A intron_variant ORCA-IN 16 30958403 30958403 single base substitution C A missense_variant P334Q 1001C>A ORCA-IN 16 30958403 30958403 single base substitution C A missense_variant P510Q 1529C>A ORCA-IN 16 30958403 30958403 single base substitution C A missense_variant P537Q 1610C>A ORCA-IN 16 30958403 30958403 single base substitution C A missense_variant P626Q 1877C>A ORCA-IN 16 30958403 30958403 single base substitution C A missense_variant P646Q 1937C>A ORCA-IN 16 30958403 30958403 single base substitution C A synonymous_variant P82P 246C>A OV-AU 16 30929468 30929468 single base substitution G A upstream_gene_variant OV-AU 16 30930241 30930241 single base substitution T C upstream_gene_variant OV-AU 16 30933896 30933896 single base substitution T G upstream_gene_variant OV-AU 16 30940729 30940729 single base substitution G A downstream_gene_variant OV-AU 16 30940729 30940729 single base substitution G A intron_variant OV-AU 16 30948917 30948917 single base substitution G T intron_variant OV-AU 16 30948917 30948917 single base substitution G T upstream_gene_variant OV-AU 16 30953436 30953436 single base substitution G C splice_acceptor_variant OV-AU 16 30953436 30953436 single base substitution G C upstream_gene_variant OV-AU 16 30956457 30956457 single base substitution G T intron_variant OV-AU 16 30956702 30956702 single base substitution C T intron_variant OV-AU 16 30957093 30957093 single base substitution G T intron_variant OV-AU 16 30960453 30960453 single base substitution C G downstream_gene_variant OV-AU 16 30963169 30963169 single base substitution A G downstream_gene_variant OV-AU 16 30964276 30964276 single base substitution C T downstream_gene_variant PACA-AU 16 30930268 30930268 single base substitution T C upstream_gene_variant PACA-AU 16 30943387 30943387 single base substitution G C intron_variant PACA-AU 16 30946596 30946596 single base substitution C A intron_variant PACA-AU 16 30951712 30951712 single base substitution G C intron_variant PACA-AU 16 30951712 30951712 single base substitution G C upstream_gene_variant PACA-AU 16 30961681 30961681 single base substitution C G downstream_gene_variant PACA-AU 16 30964627 30964627 deletion of <=200bp C - downstream_gene_variant PACA-CA 16 30930263 30930263 single base substitution T C upstream_gene_variant PACA-CA 16 30931694 30931694 single base substitution C T upstream_gene_variant PACA-CA 16 30934630 30934655 deletion of <=200bp CGGCATCCTCGGCTCCCGGCTGGGCA - intron_variant PACA-CA 16 30934630 30934655 deletion of <=200bp CGGCATCCTCGGCTCCCGGCTGGGCA - upstream_gene_variant PACA-CA 16 30937046 30937046 single base substitution C G 5_prime_UTR_variant PACA-CA 16 30937046 30937046 single base substitution C G intron_variant PACA-CA 16 30937046 30937046 single base substitution C G splice_region_variant PACA-CA 16 30937046 30937046 single base substitution C G upstream_gene_variant PACA-CA 16 30939228 30939228 deletion of <=200bp C - 5_prime_UTR_variant PACA-CA 16 30939228 30939228 deletion of <=200bp C - downstream_gene_variant PACA-CA 16 30939228 30939228 deletion of <=200bp C - frameshift_variant P145 PACA-CA 16 30939228 30939228 deletion of <=200bp C - frameshift_variant P191 PACA-CA 16 30939228 30939228 deletion of <=200bp C - frameshift_variant P211 PACA-CA 16 30939228 30939228 deletion of <=200bp C - intron_variant PACA-CA 16 30943330 30943330 single base substitution G C intron_variant PACA-CA 16 30945744 30945744 single base substitution C A intron_variant PACA-CA 16 30946712 30946712 single base substitution C T intron_variant PACA-CA 16 30949269 30949269 single base substitution G T intron_variant PACA-CA 16 30949269 30949269 single base substitution G T upstream_gene_variant PACA-CA 16 30950753 30950753 single base substitution G A intron_variant PACA-CA 16 30950753 30950753 single base substitution G A upstream_gene_variant PACA-CA 16 30954026 30954026 single base substitution C A intron_variant PACA-CA 16 30963294 30963294 single base substitution T G downstream_gene_variant PACA-CA 16 30963790 30963790 single base substitution A G downstream_gene_variant PACA-CA 16 30964691 30964691 single base substitution G A downstream_gene_variant PAEN-IT 16 30941752 30941752 single base substitution G A downstream_gene_variant PAEN-IT 16 30941752 30941752 single base substitution G A missense_variant R267Q 800G>A PAEN-IT 16 30941752 30941752 single base substitution G A missense_variant R294Q 881G>A PAEN-IT 16 30941752 30941752 single base substitution G A missense_variant R383Q 1148G>A PAEN-IT 16 30941752 30941752 single base substitution G A missense_variant R403Q 1208G>A PAEN-IT 16 30941752 30941752 single base substitution G A missense_variant R91Q 272G>A PAEN-IT 16 30955137 30955137 single base substitution C A intron_variant PBCA-DE 16 30930257 30930257 single base substitution T C upstream_gene_variant PBCA-DE 16 30930266 30930266 single base substitution T C upstream_gene_variant PBCA-DE 16 30930281 30930281 single base substitution T C upstream_gene_variant PBCA-DE 16 30937855 30937855 single base substitution A T downstream_gene_variant PBCA-DE 16 30937855 30937855 single base substitution A T intron_variant PBCA-DE 16 30939210 30939210 single base substitution C A 5_prime_UTR_variant PBCA-DE 16 30939210 30939210 single base substitution C A downstream_gene_variant PBCA-DE 16 30939210 30939210 single base substitution C A intron_variant PBCA-DE 16 30939210 30939210 single base substitution C A missense_variant P139T 415C>A PBCA-DE 16 30939210 30939210 single base substitution C A missense_variant P185T 553C>A PBCA-DE 16 30939210 30939210 single base substitution C A missense_variant P205T 613C>A PBCA-DE 16 30939357 30939357 single base substitution G C downstream_gene_variant PBCA-DE 16 30939357 30939357 single base substitution G C intron_variant PBCA-DE 16 30943057 30943057 insertion of <=200bp - T intron_variant PBCA-DE 16 30945241 30945241 insertion of <=200bp - ATT intron_variant PBCA-DE 16 30955838 30955838 single base substitution A G intron_variant PBCA-DE 16 30960640 30960640 single base substitution G A downstream_gene_variant PRAD-CA 16 30930248 30930248 single base substitution T C upstream_gene_variant PRAD-CA 16 30930254 30930254 single base substitution T C upstream_gene_variant PRAD-CA 16 30930260 30930260 single base substitution T C upstream_gene_variant PRAD-UK 16 30932412 30932412 single base substitution A T upstream_gene_variant PRAD-UK 16 30932619 30932619 single base substitution C T upstream_gene_variant RECA-EU 16 30947275 30947275 single base substitution C T intron_variant RECA-EU 16 30953313 30953313 single base substitution G A intron_variant RECA-EU 16 30953313 30953313 single base substitution G A upstream_gene_variant RECA-EU 16 30957405 30957405 single base substitution G A intron_variant RECA-EU 16 30963298 30963298 single base substitution T C downstream_gene_variant SKCA-BR 16 30933826 30933826 single base substitution C T upstream_gene_variant SKCA-BR 16 30934764 30934764 single base substitution C T intron_variant SKCA-BR 16 30934764 30934764 single base substitution C T upstream_gene_variant SKCA-BR 16 30935246 30935246 single base substitution A G intron_variant SKCA-BR 16 30935246 30935246 single base substitution A G upstream_gene_variant SKCA-BR 16 30935274 30935274 single base substitution T C intron_variant SKCA-BR 16 30935274 30935274 single base substitution T C upstream_gene_variant SKCA-BR 16 30935665 30935665 single base substitution A C 5_prime_UTR_variant SKCA-BR 16 30935665 30935665 single base substitution A C intron_variant SKCA-BR 16 30935665 30935665 single base substitution A C upstream_gene_variant SKCA-BR 16 30936793 30936793 single base substitution C T intron_variant SKCA-BR 16 30936793 30936793 single base substitution C T upstream_gene_variant SKCA-BR 16 30937341 30937341 single base substitution G A downstream_gene_variant SKCA-BR 16 30937341 30937341 single base substitution G A intron_variant SKCA-BR 16 30939163 30939163 single base substitution C T 5_prime_UTR_variant SKCA-BR 16 30939163 30939163 single base substitution C T downstream_gene_variant SKCA-BR 16 30939163 30939163 single base substitution C T intron_variant SKCA-BR 16 30939163 30939163 single base substitution C T missense_variant P123L 368C>T SKCA-BR 16 30939163 30939163 single base substitution C T missense_variant P169L 506C>T SKCA-BR 16 30939163 30939163 single base substitution C T missense_variant P189L 566C>T SKCA-BR 16 30941680 30941680 single base substitution G A downstream_gene_variant SKCA-BR 16 30941680 30941680 single base substitution G A missense_variant G243E 728G>A SKCA-BR 16 30941680 30941680 single base substitution G A missense_variant G270E 809G>A SKCA-BR 16 30941680 30941680 single base substitution G A missense_variant G359E 1076G>A SKCA-BR 16 30941680 30941680 single base substitution G A missense_variant G379E 1136G>A SKCA-BR 16 30941680 30941680 single base substitution G A missense_variant G67E 200G>A SKCA-BR 16 30944965 30944965 single base substitution G A intron_variant SKCA-BR 16 30947942 30947942 single base substitution G T intron_variant SKCA-BR 16 30949515 30949515 single base substitution G A intron_variant SKCA-BR 16 30949515 30949515 single base substitution G A upstream_gene_variant SKCA-BR 16 30950638 30950638 single base substitution C T intron_variant SKCA-BR 16 30950638 30950638 single base substitution C T upstream_gene_variant SKCA-BR 16 30951616 30951616 single base substitution C T intron_variant SKCA-BR 16 30951616 30951616 single base substitution C T upstream_gene_variant SKCA-BR 16 30954633 30954633 single base substitution C T intron_variant SKCA-BR 16 30954663 30954663 single base substitution A C intron_variant SKCA-BR 16 30956437 30956437 single base substitution C T intron_variant SKCA-BR 16 30959296 30959296 single base substitution A C 3_prime_UTR_variant SKCA-BR 16 30959296 30959296 single base substitution A C downstream_gene_variant SKCA-BR 16 30959297 30959297 single base substitution A C 3_prime_UTR_variant SKCA-BR 16 30959297 30959297 single base substitution A C downstream_gene_variant SKCA-BR 16 30959503 30959503 single base substitution A C 3_prime_UTR_variant SKCA-BR 16 30959503 30959503 single base substitution A C downstream_gene_variant SKCA-BR 16 30960750 30960750 single base substitution G A downstream_gene_variant SKCA-BR 16 30961897 30961897 single base substitution T G downstream_gene_variant SKCA-BR 16 30961902 30961902 single base substitution A G downstream_gene_variant SKCM-US 16 30939897 30939897 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant SKCM-US 16 30939897 30939897 single base substitution C T downstream_gene_variant SKCM-US 16 30939897 30939897 single base substitution C T intron_variant SKCM-US 16 30939897 30939897 single base substitution C T missense_variant P246L 737C>T SKCM-US 16 30939897 30939897 single base substitution C T missense_variant P266L 797C>T SKCM-US 16 30941555 30941555 single base substitution G A downstream_gene_variant SKCM-US 16 30941555 30941555 single base substitution G A synonymous_variant S201S 603G>A SKCM-US 16 30941555 30941555 single base substitution G A synonymous_variant S228S 684G>A SKCM-US 16 30941555 30941555 single base substitution G A synonymous_variant S25S 75G>A SKCM-US 16 30941555 30941555 single base substitution G A synonymous_variant S317S 951G>A SKCM-US 16 30941555 30941555 single base substitution G A synonymous_variant S337S 1011G>A SKCM-US 16 30941595 30941595 single base substitution C T downstream_gene_variant SKCM-US 16 30941595 30941595 single base substitution C T missense_variant R215W 643C>T SKCM-US 16 30941595 30941595 single base substitution C T missense_variant R242W 724C>T SKCM-US 16 30941595 30941595 single base substitution C T missense_variant R331W 991C>T SKCM-US 16 30941595 30941595 single base substitution C T missense_variant R351W 1051C>T SKCM-US 16 30941595 30941595 single base substitution C T missense_variant R39W 115C>T SKCM-US 16 30958127 30958127 single base substitution C T intron_variant SKCM-US 16 30958127 30958127 single base substitution C T synonymous_variant S276S 828C>T SKCM-US 16 30958127 30958127 single base substitution C T synonymous_variant S452S 1356C>T SKCM-US 16 30958127 30958127 single base substitution C T synonymous_variant S479S 1437C>T SKCM-US 16 30958127 30958127 single base substitution C T synonymous_variant S568S 1704C>T SKCM-US 16 30958127 30958127 single base substitution C T synonymous_variant S588S 1764C>T SKCM-US 16 30958127 30958127 single base substitution C T synonymous_variant S79S 237C>T SKCM-US 16 30958239 30958239 single base substitution C T missense_variant P62L 185C>T SKCM-US 16 30958239 30958239 single base substitution C T missense_variant R117C 349C>T SKCM-US 16 30958239 30958239 single base substitution C T missense_variant R314C 940C>T SKCM-US 16 30958239 30958239 single base substitution C T missense_variant R490C 1468C>T SKCM-US 16 30958239 30958239 single base substitution C T missense_variant R517C 1549C>T SKCM-US 16 30958239 30958239 single base substitution C T missense_variant R606C 1816C>T SKCM-US 16 30958239 30958239 single base substitution C T missense_variant R626C 1876C>T SKCM-US 16 30958426 30958426 single base substitution C T intron_variant SKCM-US 16 30958426 30958426 single base substitution C T missense_variant S90F 269C>T SKCM-US 16 30958426 30958426 single base substitution C T synonymous_variant L342L 1024C>T SKCM-US 16 30958426 30958426 single base substitution C T synonymous_variant L518L 1552C>T SKCM-US 16 30958426 30958426 single base substitution C T synonymous_variant L545L 1633C>T SKCM-US 16 30958426 30958426 single base substitution C T synonymous_variant L634L 1900C>T SKCM-US 16 30958426 30958426 single base substitution C T synonymous_variant L654L 1960C>T SKCM-US 16 30964558 30964558 single base substitution T C downstream_gene_variant SKCM-US 16 30964993 30964993 single base substitution G A downstream_gene_variant STAD-US 16 30941444 30941444 single base substitution G A 5_prime_UTR_variant STAD-US 16 30941444 30941444 single base substitution G A downstream_gene_variant STAD-US 16 30941444 30941444 single base substitution G A synonymous_variant P164P 492G>A STAD-US 16 30941444 30941444 single base substitution G A synonymous_variant P191P 573G>A STAD-US 16 30941444 30941444 single base substitution G A synonymous_variant P280P 840G>A STAD-US 16 30941444 30941444 single base substitution G A synonymous_variant P300P 900G>A STAD-US 16 30941646 30941646 deletion of <=200bp G - downstream_gene_variant STAD-US 16 30941646 30941646 deletion of <=200bp G - frameshift_variant G232 STAD-US 16 30941646 30941646 deletion of <=200bp G - frameshift_variant G259 STAD-US 16 30941646 30941646 deletion of <=200bp G - frameshift_variant G348 STAD-US 16 30941646 30941646 deletion of <=200bp G - frameshift_variant G368 STAD-US 16 30941646 30941646 deletion of <=200bp G - frameshift_variant G56 STAD-US 16 30958185 30958185 single base substitution G A missense_variant A296T 886G>A STAD-US 16 30958185 30958185 single base substitution G A missense_variant A472T 1414G>A STAD-US 16 30958185 30958185 single base substitution G A missense_variant A499T 1495G>A STAD-US 16 30958185 30958185 single base substitution G A missense_variant A588T 1762G>A STAD-US 16 30958185 30958185 single base substitution G A missense_variant A608T 1822G>A STAD-US 16 30958185 30958185 single base substitution G A missense_variant A99T 295G>A STAD-US 16 30958185 30958185 single base substitution G A missense_variant R44H 131G>A STAD-US 16 30960725 30960725 single base substitution A G downstream_gene_variant STAD-US 16 30964606 30964606 single base substitution T G downstream_gene_variant STAD-US 16 30964856 30964856 single base substitution G T downstream_gene_variant THCA-SA 16 30938943 30938943 single base substitution A T 5_prime_UTR_variant THCA-SA 16 30938943 30938943 single base substitution A T downstream_gene_variant THCA-SA 16 30938943 30938943 single base substitution A T missense_variant E124V 371A>T THCA-SA 16 30938943 30938943 single base substitution A T missense_variant E144V 431A>T THCA-SA 16 30938943 30938943 single base substitution A T missense_variant E78V 233A>T UCEC-US 16 30939115 30939115 single base substitution G A 5_prime_UTR_variant UCEC-US 16 30939115 30939115 single base substitution G A downstream_gene_variant UCEC-US 16 30939115 30939115 single base substitution G A intron_variant UCEC-US 16 30939115 30939115 single base substitution G A missense_variant G107D 320G>A UCEC-US 16 30939115 30939115 single base substitution G A missense_variant G153D 458G>A UCEC-US 16 30939115 30939115 single base substitution G A missense_variant G173D 518G>A UCEC-US 16 30953728 30953728 single base substitution T C missense_variant W11R 31T>C UCEC-US 16 30953728 30953728 single base substitution T C missense_variant W208R 622T>C UCEC-US 16 30953728 30953728 single base substitution T C missense_variant W384R 1150T>C UCEC-US 16 30953728 30953728 single base substitution T C missense_variant W411R 1231T>C UCEC-US 16 30953728 30953728 single base substitution T C missense_variant W500R 1498T>C UCEC-US 16 30953728 30953728 single base substitution T C missense_variant W520R 1558T>C UCEC-US 16 30953728 30953728 single base substitution T C upstream_gene_variant UCEC-US 16 30953775 30953775 single base substitution G A synonymous_variant R223R 669G>A UCEC-US 16 30953775 30953775 single base substitution G A synonymous_variant R26R 78G>A UCEC-US 16 30953775 30953775 single base substitution G A synonymous_variant R399R 1197G>A UCEC-US 16 30953775 30953775 single base substitution G A synonymous_variant R426R 1278G>A UCEC-US 16 30953775 30953775 single base substitution G A synonymous_variant R515R 1545G>A UCEC-US 16 30953775 30953775 single base substitution G A synonymous_variant R535R 1605G>A UCEC-US 16 30953775 30953775 single base substitution G A synonymous_variant R7R 21G>A UCEC-US 16 30958263 30958263 single base substitution C G missense_variant L125V 373C>G UCEC-US 16 30958263 30958263 single base substitution C G missense_variant L322V 964C>G UCEC-US 16 30958263 30958263 single base substitution C G missense_variant L498V 1492C>G UCEC-US 16 30958263 30958263 single base substitution C G missense_variant L525V 1573C>G UCEC-US 16 30958263 30958263 single base substitution C G missense_variant L614V 1840C>G UCEC-US 16 30958263 30958263 single base substitution C G missense_variant L634V 1900C>G UCEC-US 16 30958263 30958263 single base substitution C G missense_variant S70C 209C>G UCEC-US 16 30958404 30958404 single base substitution G A intron_variant UCEC-US 16 30958404 30958404 single base substitution G A missense_variant A83T 247G>A UCEC-US 16 30958404 30958404 single base substitution G A synonymous_variant P334P 1002G>A UCEC-US 16 30958404 30958404 single base substitution G A synonymous_variant P510P 1530G>A UCEC-US 16 30958404 30958404 single base substitution G A synonymous_variant P537P 1611G>A UCEC-US 16 30958404 30958404 single base substitution G A synonymous_variant P626P 1878G>A UCEC-US 16 30958404 30958404 single base substitution G A synonymous_variant P646P 1938G>A UCEC-US 16 30964650 30964650 single base substitution G T downstream_gene_variant UCEC-US 16 30964667 30964667 single base substitution C T downstream_gene_variant UCEC-US 16 30964968 30964968 single base substitution G T downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-GN-A26C-01 COSM1206773 c.1876C>T p.R626C Substitution - Missense 16:30946918-30946918 + 2334194 COSM320374 c.2056G>A p.E686K Substitution - Missense 16:30947201-30947201 + LUAD-B00416 COSM355394 c.611G>T p.R204L Substitution - Missense 16:30930344-30930344 + CHC1085T COSM4788660 c.411A>T p.L137L Substitution - coding silent 16:30930144-30930144 + WA16 COSM239841 c.1720delG p.V574fs*11 Deletion - Frameshift 16:30946762-30946762 + ACINAR08 COSM1734199 c.785_786insG p.V263fs*60 Insertion - Frameshift 16:30928564-30928565 + LS411 COSM4612884 c.607delC p.P205fs*26 Deletion - Frameshift 16:30927883-30927883 + TCGA-GN-A26C-01 COSM1206774 c.1366C>T p.R456C Substitution - Missense 16:30946918-30946918 + YUKAT COSM5384761 c.256G>A p.A86T Substitution - Missense 16:30927326-30927326 + TCGA-EE-A2ML-06 COSM3508957 c.1051C>T p.R351W Substitution - Missense 16:30930274-30930274 + TCGA-A8-A09Z-01 COSM3817839 c.1206G>A p.Q402Q Substitution - coding silent 16:30946758-30946758 + LUAD-S01302 COSM395595 c.1339G>T p.V447F Substitution - Missense 16:30930562-30930562 + TCGA-D9-A1JW-06 COSM3508959 c.1764C>T p.S588S Substitution - coding silent 16:30946806-30946806 + 2293783 COSM4609561 c.1906G>A p.G636S Substitution - Missense 16:30946948-30946948 + PTC_446 COSM5960023 c.50A>T p.E17V Substitution - Missense 16:30927622-30927622 + LUAD-S01302 COSM395596 c.829G>T p.V277F Substitution - Missense 16:30930562-30930562 + LUAD-YINHD COSM349182 c.474G>T p.S158S Substitution - coding silent 16:30930207-30930207 + 480 COSM4439140 c.817A>G p.I273V Substitution - Missense 16:30930550-30930550 + TCGA-A8-A095-01 COSM435140 c.535G>A p.E179K Substitution - Missense 16:30930268-30930268 + TCGA-EE-A3JB-06 COSM4898185 c.501G>A p.S167S Substitution - coding silent 16:30930234-30930234 + OSCC-GB_00660111 COSM4888880 c.1312C>A p.P438T Substitution - Missense 16:30930535-30930535 + T20 COSM5342761 c.106C>T p.R36* Substitution - Nonsense 16:30925800-30925800 + TCGA-AC-A62X-01 COSM4390632 c.493C>T p.R165C Substitution - Missense 16:30927769-30927769 + T36 COSM4683884 c.1012G>T p.G338C Substitution - Missense 16:30930235-30930235 + TCGA-DK-A3X1-01 COSM3794805 c.1547C>G p.S516C Substitution - Missense 16:30942396-30942396 + CSCC-44-T COSM4563675 c.474G>A p.S158S Substitution - coding silent 16:30930207-30930207 + CHC892T COSM4795631 c.1314G>A p.P438P Substitution - coding silent 16:30930537-30930537 + T3225 COSM4683882 c.925C>T p.R309C Substitution - Missense 16:30930148-30930148 + GHE0624 COSM5714379 c.961A>C p.S321R Substitution - Missense 16:30942225-30942225 + CRC-19T COSM5481299 c.1562T>G p.L521R Substitution - Missense 16:30942411-30942411 + LUAD-YINHD COSM349181 c.984G>T p.S328S Substitution - coding silent 16:30930207-30930207 + PT17_1 COSM5899132 c.1870C>T p.P624S Substitution - Missense 16:30946912-30946912 + 93VU147T COSM4591705 c.1534T>C p.F512L Substitution - Missense 16:30947189-30947189 + 08-P8005 COSM4578962 c.1788A>C p.A596A Substitution - coding silent 16:30946830-30946830 + AOCS-065-3-6 COSM3948486 c.1362-1G>C p.? Unknown 16:30942115-30942115 + TCGA-AP-A052-01 COSM970028 c.1390C>G p.L464V Substitution - Missense 16:30946942-30946942 + TCGA-D1-A103-01 COSM970030 c.1428G>A p.P476P Substitution - coding silent 16:30947083-30947083 + TCGA-D1-A17B-01 COSM970024 c.1048T>C p.W350R Substitution - Missense 16:30942407-30942407 + STC232 COSM4612885 c.226delC p.P78fs*26 Deletion - Frameshift 16:30927883-30927883 + T36 COSM4683885 c.502G>T p.G168C Substitution - Missense 16:30930235-30930235 + BD236T COSM5519378 c.766C>T p.R256W Substitution - Missense 16:30930499-30930499 + OSCC-GB_00810111 COSM4891240 c.984G>T p.K328N Substitution - Missense 16:30942248-30942248 + ESCC_133 COSM5642508 c.1055C>T p.S352F Substitution - Missense 16:30942414-30942414 + TCGA-DD-A113-01 COSM4925221 c.1538G>A p.R513H Substitution - Missense 16:30947193-30947193 + WSU-HN8 COSM4591704 c.2044T>C p.F682L Substitution - Missense 16:30947189-30947189 + ZZUFHECRKL-G045T COSM5437885 c.119G>A p.R40H Substitution - Missense 16:30925813-30925813 + SC_9032 COSM5565839 c.685C>G p.R229G Substitution - Missense 16:30930418-30930418 + I2L-P7-Tumor-Organoid COSM5363663 c.1702C>T p.R568C Substitution - Missense 16:30946744-30946744 + OSCC-GB_00660111 COSM4888881 c.802C>A p.P268T Substitution - Missense 16:30930535-30930535 + LIM1215 COSM4612885 c.226delC p.P78fs*26 Deletion - Frameshift 16:30927883-30927883 + CAL27 COSM4591705 c.1534T>C p.F512L Substitution - Missense 16:30947189-30947189 + CAL27 COSM4591704 c.2044T>C p.F682L Substitution - Missense 16:30947189-30947189 + TCGA-F4-6809-01 COSM1377520 c.1742G>A p.G581D Substitution - Missense 16:30946784-30946784 + HCC138 COSM1609215 c.98G>A p.R33H Substitution - Missense 16:30925792-30925792 + LIM1215 COSM4612884 c.607delC p.P205fs*26 Deletion - Frameshift 16:30927883-30927883 + STC297 COSM3113439 c.2028C>T p.A676A Substitution - coding silent 16:30947173-30947173 + ODG11 COSM5731323 c.92C>T p.S31L Substitution - Missense 16:30927749-30927749 + RKO COSM4647918 c.1200G>A p.R400R Substitution - coding silent 16:30946752-30946752 + KYSE-410 COSM3113397 c.388C>T p.P130S Substitution - Missense 16:30930121-30930121 + TCGA-CC-5262-01 COSM4919294 c.717G>A p.K239K Substitution - coding silent 16:30928496-30928496 + TCGA-CD-A4MG-01 COSM4060264 c.390G>A p.P130P Substitution - coding silent 16:30930123-30930123 + ODG11 COSM5731322 c.473C>T p.S158L Substitution - Missense 16:30927749-30927749 + 2334194 COSM41551 c.1546G>A p.E516K Substitution - Missense 16:30947201-30947201 + CSCC-62-T COSM4514981 c.483C>T p.D161D Substitution - coding silent 16:30930216-30930216 + TCGA-DD-A113-01 COSM4925220 c.2048G>A p.R683H Substitution - Missense 16:30947193-30947193 + PET052T COSM5824836 c.1208G>A p.R403Q Substitution - Missense 16:30930431-30930431 + TCGA-BT-A20J-01 COSM417040 c.1019C>T p.S340L Substitution - Missense 16:30930242-30930242 + TCGA-D3-A1Q6-06 COSM3508962 c.1450C>T p.L484L Substitution - coding silent 16:30947105-30947105 + HT115 COSM3113386 c.641G>A p.R214Q Substitution - Missense 16:30927917-30927917 + PET052T COSM5824837 c.698G>A p.R233Q Substitution - Missense 16:30930431-30930431 + SJBALL021305_D1 COSM4994061 c.1366T>C p.Y456H Substitution - Missense 16:30942120-30942120 + SJDES021 COSM4578961 c.225_226insC p.E79fs*17 Insertion - Frameshift 16:30927882-30927883 + RKO COSM4647917 c.1710G>A p.R570R Substitution - coding silent 16:30946752-30946752 + WSU-HN13 COSM4591705 c.1534T>C p.F512L Substitution - Missense 16:30947189-30947189 + CSCC-62-T COSM4514980 c.993C>T p.D331D Substitution - coding silent 16:30930216-30930216 + TCGA-61-2101-01 COSM70750 c.1291G>A p.A431T Substitution - Missense 16:30946843-30946843 + TCGA-HU-A4GX-01 COSM3113431 c.1822G>A p.A608T Substitution - Missense 16:30946864-30946864 + 2293783 COSM4609562 c.1396G>A p.G466S Substitution - Missense 16:30946948-30946948 + TCGA-BL-A13J-01 COSM417038 c.1987C>A p.R663S Substitution - Missense 16:30947132-30947132 + TCGA-06-5858-01 COSM3402283 c.1504C>T p.R502W Substitution - Missense 16:30947159-30947159 + ESCC_133 COSM5642507 c.1565C>T p.S522F Substitution - Missense 16:30942414-30942414 + SCC-25 COSM4591704 c.2044T>C p.F682L Substitution - Missense 16:30947189-30947189 + TCGA-D1-A103-01 COSM970029 c.1938G>A p.P646P Substitution - coding silent 16:30947083-30947083 + LS411 COSM4612885 c.226delC p.P78fs*26 Deletion - Frameshift 16:30927883-30927883 + 594-01-1TD COSM5419486 c.51G>A p.L17L Substitution - coding silent 16:30925745-30925745 + TCGA-D3-A3C7-06 COSM3508956 c.797C>T p.P266L Substitution - Missense 16:30928576-30928576 + TCGA-F4-6809-01 COSM1377521 c.1232G>A p.G411D Substitution - Missense 16:30946784-30946784 + ESO-107 COSM1252239 c.1531C>T p.P511S Substitution - Missense 16:30947186-30947186 + Pat_16_A COSM5850762 c.341G>A p.C114Y Substitution - Missense 16:30927411-30927411 + TCGA-EE-A2ML-06 COSM3508958 c.541C>T p.R181W Substitution - Missense 16:30930274-30930274 + LC_S46 COSM1189254 c.159G>T p.W53C Substitution - Missense 16:30927816-30927816 + 587342 COSM1206776 c.425G>A p.R142Q Substitution - Missense 16:30930158-30930158 + TCGA-D1-A17B-01 COSM970023 c.1558T>C p.W520R Substitution - Missense 16:30942407-30942407 + LC_S46 COSM1189253 c.540G>T p.W180C Substitution - Missense 16:30927816-30927816 + CSCC-44-T COSM4563674 c.984G>A p.S328S Substitution - coding silent 16:30930207-30930207 + 93VU147T COSM4591704 c.2044T>C p.F682L Substitution - Missense 16:30947189-30947189 + BD165T COSM5067519 c.1052G>A p.R351Q Substitution - Missense 16:30930275-30930275 + TCGA-24-1845-01 COSM1324495 c.511C>G p.L171V Substitution - Missense 16:30930244-30930244 + T3225 COSM4683883 c.415C>T p.R139C Substitution - Missense 16:30930148-30930148 + WSU-HN8 COSM4591705 c.1534T>C p.F512L Substitution - Missense 16:30947189-30947189 + SJBALL021305_D1 COSM4994062 c.856T>C p.Y286H Substitution - Missense 16:30942120-30942120 + HN_62739 COSM127977 c.243G>A p.V81V Substitution - coding silent 16:30927900-30927900 + LUAD-S01381 COSM398476 c.132C>G p.A44A Substitution - coding silent 16:30925826-30925826 + CHC1085T COSM4788659 c.921A>T p.L307L Substitution - coding silent 16:30930144-30930144 + HCC138T COSM1609215 c.98G>A p.R33H Substitution - Missense 16:30925792-30925792 + SW48 COSM4656206 c.96G>A p.A32A Substitution - coding silent 16:30925790-30925790 + CHC892T COSM4795631 c.1314G>A p.P438P Substitution - coding silent 16:30930537-30930537 + OSCC-GB_00900111 COSM4884111 c.1937C>A p.P646Q Substitution - Missense 16:30947082-30947082 + LUAD-B00416 COSM355393 c.1121G>T p.R374L Substitution - Missense 16:30930344-30930344 + ESCC-212T COSM3937046 c.15C>T p.V5V Substitution - coding silent 16:30924747-30924747 + 08-P8005 COSM4578963 c.1278A>C p.A426A Substitution - coding silent 16:30946830-30946830 + 587226 COSM1206770 c.115T>C p.C39R Substitution - Missense 16:30925809-30925809 + SC_9037 COSM5559838 c.1430T>G p.L477R Substitution - Missense 16:30947085-30947085 + ESO-107 COSM1252238 c.2041C>T p.P681S Substitution - Missense 16:30947186-30947186 + TCGA-AA-3980-01 COSM297754 c.732C>T p.D244D Substitution - coding silent 16:30928511-30928511 + TCGA-G4-6309-01 COSM1377519 c.1223G>A p.R408H Substitution - Missense 16:30946775-30946775 + TCGA-DI-A0WH-01 COSM970022 c.137G>A p.G46D Substitution - Missense 16:30927794-30927794 + PT34 COSM3113396 c.898C>T p.P300S Substitution - Missense 16:30930121-30930121 + CHC1085T COSM4788660 c.411A>T p.L137L Substitution - coding silent 16:30930144-30930144 + SNU-C4 COSM4612884 c.607delC p.P205fs*26 Deletion - Frameshift 16:30927883-30927883 + TCGA-BP-5000-01 COSM471651 c.767C>T p.P256L Substitution - Missense 16:30928546-30928546 + I2L-P7-Tumor-Organoid COSM5363664 c.1192C>T p.R398C Substitution - Missense 16:30946744-30946744 + TCGA-AP-A052-01 COSM970027 c.1900C>G p.L634V Substitution - Missense 16:30946942-30946942 + CRC-19T COSM5481300 c.1052T>G p.L351R Substitution - Missense 16:30942411-30942411 + TCGA-22-5485-01 COSM703238 c.784A>T p.R262W Substitution - Missense 16:30928563-30928563 + SC_9037 COSM5559837 c.1940T>G p.L647R Substitution - Missense 16:30947085-30947085 + TCGA-CM-6680-01 COSM3690939 c.591C>T p.G197G Substitution - coding silent 16:30927867-30927867 + YUNIBO COSM5384763 c.911C>G p.P304R Substitution - Missense 16:30942175-30942175 + GHE0624 COSM5714378 c.1471A>C p.S491R Substitution - Missense 16:30942225-30942225 + PD13299a COSM5800081 c.134G>C p.C45S Substitution - Missense 16:30925828-30925828 + 61 COSM5740623 c.1160G>A p.G387D Substitution - Missense 16:30930383-30930383 + TCGA-DK-A3X1-01 COSM3794806 c.1037C>G p.S346C Substitution - Missense 16:30942396-30942396 + TCGA-CM-4746-01 COSM1377515 c.806C>A p.A269D Substitution - Missense 16:30928585-30928585 + CHC892T COSM4795425 c.85G>A p.G29R Substitution - Missense 16:30925779-30925779 + CHC1085T COSM4788659 c.921A>T p.L307L Substitution - coding silent 16:30930144-30930144 + HN_62756 COSM128626 c.187delG p.R67fs*2 Deletion - Frameshift 16:30925881-30925881 + PT34 COSM3113397 c.388C>T p.P130S Substitution - Missense 16:30930121-30930121 + S01502 COSM4386971 c.227C>T p.P76L Substitution - Missense 16:30927884-30927884 + PD13627a COSM5776968 c.181A>C p.K61Q Substitution - Missense 16:30925875-30925875 + Gp5D COSM3113446 c.1529G>C p.G510A Substitution - Missense 16:30947184-30947184 + WA16 COSM239840 c.1210delG p.V404fs*11 Deletion - Frameshift 16:30946762-30946762 + SCC-9 COSM4591705 c.1534T>C p.F512L Substitution - Missense 16:30947189-30947189 + WSU-HN13 COSM4591704 c.2044T>C p.F682L Substitution - Missense 16:30947189-30947189 + TCGA-06-5858-01 COSM3402282 c.2014C>T p.R672W Substitution - Missense 16:30947159-30947159 + SJDES021 COSM4578960 c.606_607insC p.E206fs*17 Insertion - Frameshift 16:30927882-30927883 + TCGA-G4-6309-01 COSM1377518 c.1733G>A p.R578H Substitution - Missense 16:30946775-30946775 + TCGA-A8-A095-01 COSM435139 c.1045G>A p.E349K Substitution - Missense 16:30930268-30930268 + 480 COSM4439139 c.1327A>G p.I443V Substitution - Missense 16:30930550-30930550 + KYSE-410 COSM3113396 c.898C>T p.P300S Substitution - Missense 16:30930121-30930121 + STC232 COSM4612884 c.607delC p.P205fs*26 Deletion - Frameshift 16:30927883-30927883 + S01502 COSM4386970 c.608C>T p.P203L Substitution - Missense 16:30927884-30927884 + PTC-28C COSM3754850 c.28G>A p.E10K Substitution - Missense 16:30924760-30924760 + ODG11 COSM5731325 c.29C>T p.A10V Substitution - Missense 16:30927601-30927601 + SNU-C4 COSM4612885 c.226delC p.P78fs*26 Deletion - Frameshift 16:30927883-30927883 + TCGA-CC-5262-01 COSM4919295 c.336G>A p.K112K Substitution - coding silent 16:30928496-30928496 + RKO COSM4578961 c.225_226insC p.E79fs*17 Insertion - Frameshift 16:30927882-30927883 + 587284 COSM1206774 c.1366C>T p.R456C Substitution - Missense 16:30946918-30946918 + TCGA-IR-A3LL-01 COSM4849993 c.128G>A p.R43Q Substitution - Missense 16:30925822-30925822 + Gp2D COSM3113446 c.1529G>C p.G510A Substitution - Missense 16:30947184-30947184 + C135 COSM4617663 c.761G>A p.G254D Substitution - Missense 16:30928540-30928540 + BD57T COSM5510808 c.129C>T p.G43G Substitution - coding silent 16:30927786-30927786 + BD57T COSM5510807 c.510C>T p.G170G Substitution - coding silent 16:30927786-30927786 + TCGA-24-1423-01 COSM70749 c.1222C>T p.R408C Substitution - Missense 16:30946774-30946774 + RKO COSM4578960 c.606_607insC p.E206fs*17 Insertion - Frameshift 16:30927882-30927883 + T98G COSM5712731 c.1281C>T p.A427A Substitution - coding silent 16:30930504-30930504 + BD72T COSM4612885 c.226delC p.P78fs*26 Deletion - Frameshift 16:30927883-30927883 + TCGA-CM-6680-01 COSM3690940 c.210C>T p.G70G Substitution - coding silent 16:30927867-30927867 + ESCC_130 COSM5642078 c.1427C>T p.P476L Substitution - Missense 16:30947082-30947082 + TCGA-HU-A4GX-01 COSM3113432 c.1312G>A p.A438T Substitution - Missense 16:30946864-30946864 + SC_9032 COSM5565838 c.1195C>G p.R399G Substitution - Missense 16:30930418-30930418 + TCGA-CD-A4MG-01 COSM4060263 c.900G>A p.P300P Substitution - coding silent 16:30930123-30930123 + SNU-C2B COSM3113432 c.1312G>A p.A438T Substitution - Missense 16:30946864-30946864 + 587342 COSM1206775 c.935G>A p.R312Q Substitution - Missense 16:30930158-30930158 + CHC892T COSM4795632 c.804G>A p.P268P Substitution - coding silent 16:30930537-30930537 + TCGA-AB-2807-03 COSM1318593 c.874G>A p.A292T Substitution - Missense 16:30930097-30930097 + PT17_1 COSM5899133 c.1360C>T p.P454S Substitution - Missense 16:30946912-30946912 + BD72T COSM4612884 c.607delC p.P205fs*26 Deletion - Frameshift 16:30927883-30927883 + TCGA-66-2787-01 COSM703237 c.575G>T p.G192V Substitution - Missense 16:30930308-30930308 + SCC-25 COSM4591705 c.1534T>C p.F512L Substitution - Missense 16:30947189-30947189 + TCGA-AM-5821-01 COSM3754850 c.28G>A p.E10K Substitution - Missense 16:30924760-30924760 + Gp5D COSM3113445 c.2039G>C p.G680A Substitution - Missense 16:30947184-30947184 + NCI-H209 COSM41551 c.1546G>A p.E516K Substitution - Missense 16:30947201-30947201 + YUNIBO COSM5384762 c.1421C>G p.P474R Substitution - Missense 16:30942175-30942175 + SNU-C2B COSM4615255 c.190delC p.P65fs*39 Deletion - Frameshift 16:30927847-30927847 + PTC_446 COSM5960022 c.431A>T p.E144V Substitution - Missense 16:30927622-30927622 + TCGA-A8-A09Z-01 COSM3817838 c.1716G>A p.Q572Q Substitution - coding silent 16:30946758-30946758 + 587334 COSM1206772 c.233C>T p.P78L Substitution - Missense 16:30927890-30927890 + 61 COSM5740624 c.650G>A p.G217D Substitution - Missense 16:30930383-30930383 + TCGA-BL-A13J-01 COSM417039 c.1477C>A p.R493S Substitution - Missense 16:30947132-30947132 + ODG11 COSM5731324 c.410C>T p.A137V Substitution - Missense 16:30927601-30927601 + TCGA-G4-6628-01 COSM1377514 c.240C>T p.P80P Substitution - coding silent 16:30927310-30927310 + BD236T COSM5519377 c.1276C>T p.R426W Substitution - Missense 16:30930499-30930499 + Gp2D COSM3113445 c.2039G>C p.G680A Substitution - Missense 16:30947184-30947184 + STC297 COSM3113440 c.1518C>T p.A506A Substitution - coding silent 16:30947173-30947173 + TCGA-B5-A11E-01 COSM970025 c.1605G>A p.R535R Substitution - coding silent 16:30942454-30942454 + TCGA-B5-A11E-01 COSM970026 c.1095G>A p.R365R Substitution - coding silent 16:30942454-30942454 + 587284 COSM1206773 c.1876C>T p.R626C Substitution - Missense 16:30946918-30946918 + WSU-HN12 COSM4591705 c.1534T>C p.F512L Substitution - Missense 16:30947189-30947189 + TCGA-AB-2807-03 COSM1318594 c.364G>A p.A122T Substitution - Missense 16:30930097-30930097 + S02299 COSM5690283 c.783C>T p.P261P Substitution - coding silent 16:30928562-30928562 + TCGA-DI-A0WH-01 COSM970021 c.518G>A p.G173D Substitution - Missense 16:30927794-30927794 + ESCC_130 COSM5642077 c.1937C>T p.P646L Substitution - Missense 16:30947082-30947082 + AOCS-065-3-6 COSM3948487 c.852-1G>C p.? Unknown 16:30942115-30942115 + CHC892T COSM4795632 c.804G>A p.P268P Substitution - coding silent 16:30930537-30930537 + 587334 COSM1206771 c.614C>T p.P205L Substitution - Missense 16:30927890-30927890 + WSU-HN12 COSM4591704 c.2044T>C p.F682L Substitution - Missense 16:30947189-30947189 + BD165T COSM5067520 c.542G>A p.R181Q Substitution - Missense 16:30930275-30930275 + OSCC-GB_00900111 COSM4884112 c.1427C>A p.P476Q Substitution - Missense 16:30947082-30947082 + SNU-C2B COSM4615254 c.571delC p.P192fs*39 Deletion - Frameshift 16:30927847-30927847 + CHC892T COSM4795425 c.85G>A p.G29R Substitution - Missense 16:30925779-30925779 + SCC-9 COSM4591704 c.2044T>C p.F682L Substitution - Missense 16:30947189-30947189 + CSCC-29-T COSM4506997 c.735C>T p.A245A Substitution - coding silent 16:30928514-30928514 + TCGA-EE-A3JB-06 COSM4898184 c.1011G>A p.S337S Substitution - coding silent 16:30930234-30930234 + T98G COSM5712732 c.771C>T p.A257A Substitution - coding silent 16:30930504-30930504 + TCGA-D3-A1Q6-06 COSM3508961 c.1960C>T p.L654L Substitution - coding silent 16:30947105-30947105 + TCGA-66-2787-01 COSM703236 c.1085G>T p.G362V Substitution - Missense 16:30930308-30930308 + SNU-C2B COSM3113431 c.1822G>A p.A608T Substitution - Missense 16:30946864-30946864 + HT115 COSM3113387 c.260G>A p.R87Q Substitution - Missense 16:30927917-30927917 + TCGA-D9-A1JW-06 COSM3508960 c.1254C>T p.S418S Substitution - coding silent 16:30946806-30946806 + TCGA-BT-A20J-01 COSM417041 c.509C>T p.S170L Substitution - Missense 16:30930242-30930242 + TCGA-AC-A62X-01 COSM4390633 c.112C>T p.R38C Substitution - Missense 16:30927769-30927769 + OSCC-GB_00810111 COSM4891239 c.1494G>T p.K498N Substitution - Missense 16:30942248-30942248 + 1N37-VS-1T37 COSM4975019 c.847G>C p.E283Q Substitution - Missense 16:30928626-30928626 + TCGA-24-1845-01 COSM1324494 c.1021C>G p.L341V Substitution - Missense 16:30930244-30930244 + Pat_14_B COSM5850761 c.298G>A p.V100M Substitution - Missense 16:30927368-30927368 + 103978 COSM94277 c.1015G>C p.G339R Substitution - Missense 16:30942279-30942279 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.152149 16p11.2 609085

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A T Missense p.R262W c.784A>T 16 30939884 LUSC C A Missense p.R594S c.1780C>A 16 30958143 LUAD CC TT Missense p.P279L c.836_837delinsTT 16 30939936 CM C G Missense p.L634V c.1900C>G 16 30958263 UCEC C G Missense p.P624A c.1870C>G 16 30958233 HNSC C T Missense p.P256L c.767C>T 16 30939867 RCCC C T Missense p.P266L c.797C>T 16 30939897 CM C T Missense p.P681S c.2041C>T 16 30958507 ESCA C T Missense p.R351W c.1051C>T 16 30941595 CM C T Missense p.R578C c.1732C>T 16 30958095 OV C T Missense p.R626C c.1876C>T 16 30958239 CM C T Missense p.S340L c.1019C>T 16 30941563 BLCA C T Synonymous p.D244D c.732C>T 16 30939832 COREAD C T Synonymous p.L654L c.1960C>T 16 30958426 CM C T Synonymous p.P65P c.195C>T 16 30937210 LUAD C T Synonymous p.S588S c.1764C>T 16 30958127 CM G A Missense p.A601T c.1801G>A 16 30958164 OV G A Missense p.E349K c.1045G>A 16 30941589 BRCA G A Missense p.E686K c.2056G>A 16 30958522 SCLC G A Missense p.G173D c.518G>A 16 30939115 UCEC G A Missense p.G7R c.19G>A 16 30936072 BRCA G A Synonymous p.S337S c.1011G>A 16 30941555 CM G A Synonymous p.V208V c.624G>A 16 30939221 HNSC G - Frameshift p.R370Gfs*97 c.1107delG 16 30941646 STAD G T Missense p.G362V c.1085G>T 16 30941629 LUSC G T Missense p.R319L c.956G>T 16 30941500 LUAD T C Missense p.W520R c.1558T>C 16 30953728 UCEC