Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 16 31195261 31195261 + Nonsense_Mutation SNP C C A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 g.chr16:31195261C>A c.273C>A c.(271-273)taC>taA p.Y91* BLCA 16 31195546 31195546 + Nonsense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 g.chr16:31195546C>T c.352C>T c.(352-354)Cag>Tag p.Q118* BLCA 16 31195651 31195651 + Nonsense_Mutation SNP C C T TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 g.chr16:31195651C>T c.457C>T c.(457-459)Cag>Tag p.Q153* BLCA 16 31195651 31195651 + Nonsense_Mutation SNP C C T TCGA-E7-A7XN-01A-11D-A34U-08 TCGA-E7-A7XN-10A-01D-A34X-08 g.chr16:31195651C>T c.457C>T c.(457-459)Cag>Tag p.Q153* BLCA 16 31195709 31195709 + Missense_Mutation SNP G G C TCGA-KQ-A41Q-01A-11D-A339-08 TCGA-KQ-A41Q-10D-01D-A339-08 g.chr16:31195709G>C c.515G>C c.(514-516)gGa>gCa p.G172A BLCA 16 31201100 31201100 + Missense_Mutation SNP A A G TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 g.chr16:31201100A>G c.1051A>G c.(1051-1053)Att>Gtt p.I351V BLCA 16 31201394 31201394 + Nonsense_Mutation SNP C C A TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 g.chr16:31201394C>A c.1100C>A c.(1099-1101)tCa>tAa p.S367* BLCA 16 31202302 31202302 + Missense_Mutation SNP A A G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 g.chr16:31202302A>G c.1412A>G c.(1411-1413)gAt>gGt p.D471G BLCA 16 31202724 31202724 + Missense_Mutation SNP G G C TCGA-XF-AAN0-01A-11D-A42E-08 TCGA-XF-AAN0-10A-01D-A42H-08 g.chr16:31202724G>C c.1546G>C c.(1546-1548)Gag>Cag p.E516Q BRCA 16 31193960 31193962 + In_Frame_Del DEL TTC TTC - TCGA-A8-A09Z-01A-11W-A019-09 TCGA-A8-A09Z-10A-01W-A021-09 g.chr16:31193960_31193962delTTC c.165_167delTTC c.(163-168)tattct>tat p.S57del BRCA 16 31195247 31195247 + Missense_Mutation SNP T T A TCGA-E2-A1LS-01A-12D-A159-09 TCGA-E2-A1LS-11A-32W-A16L-09 g.chr16:31195247T>A c.259T>A c.(259-261)Tcc>Acc p.S87T BRCA 16 31202420 31202420 + Missense_Mutation SNP G G C TCGA-A8-A08O-01A-21W-A071-09 TCGA-A8-A08O-10A-01W-A071-09 g.chr16:31202420G>C c.1530G>C c.(1528-1530)aaG>aaC p.K510N CESC 16 31201644 31201644 + Missense_Mutation SNP G G T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 g.chr16:31201644G>T c.1217G>T c.(1216-1218)gGc>gTc p.G406V CHOL 16 31195693 31195698 + In_Frame_Del DEL GGTGGA GGTGGA - TCGA-W5-AA39-01A-11D-A417-09 TCGA-W5-AA39-10A-01D-A41A-09 g.chr16:31195693_31195698delGGTGGA c.499_504delGGTGGA c.(499-504)ggtggadel p.GG173del CHOL 16 31201095 31201095 + Missense_Mutation SNP C C G TCGA-W5-AA39-01A-11D-A417-09 TCGA-W5-AA39-10A-01D-A41A-09 g.chr16:31201095C>G c.1046C>G c.(1045-1047)gCa>gGa p.A349G COAD 16 31193862 31193862 + Nonsense_Mutation SNP C C T TCGA-CK-4948-01B-11D-1650-10 TCGA-CK-4948-10A-01D-1650-10 g.chr16:31193862C>T c.67C>T c.(67-69)Cag>Tag p.Q23* COAD 16 31193942 31193942 + Silent SNP C C A TCGA-A6-6141-01A-11D-1771-10 TCGA-A6-6141-10A-01D-1771-10 g.chr16:31193942C>A c.147C>A c.(145-147)ggC>ggA p.G49G COAD 16 31195645 31195645 + Frame_Shift_Del DEL C C - TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr16:31195645delC c.451delC c.(451-453)cccfs p.P152fs COAD 16 31202390 31202390 + Silent SNP T T C TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr16:31202390T>C c.1500T>C c.(1498-1500)ggT>ggC p.G500G COADREAD 16 31193862 31193862 + Nonsense_Mutation SNP C C T TCGA-CK-4948-01B-11D-1650-10 TCGA-CK-4948-10A-01D-1650-10 g.chr16:31193862C>T c.67C>T c.(67-69)Cag>Tag p.Q23* COADREAD 16 31193942 31193942 + Silent SNP C C A TCGA-A6-6141-01A-11D-1771-10 TCGA-A6-6141-10A-01D-1771-10 g.chr16:31193942C>A c.147C>A c.(145-147)ggC>ggA p.G49G COADREAD 16 31195645 31195645 + Frame_Shift_Del DEL C C - TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr16:31195645delC c.451delC c.(451-453)cccfs p.P152fs COADREAD 16 31202390 31202390 + Silent SNP T T C TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr16:31202390T>C c.1500T>C c.(1498-1500)ggT>ggC p.G500G DLBC 16 31193948 31193948 + Silent SNP C C T TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr16:31193948C>T c.153C>T c.(151-153)ggC>ggT p.G51G ESCA 16 31193931 31193931 + Missense_Mutation SNP G G C TCGA-V5-AASX-01A-11D-A387-09 TCGA-V5-AASX-10A-01D-A38A-09 g.chr16:31193931G>C c.136G>C c.(136-138)Gac>Cac p.D46H ESCA 16 31199660 31199660 + Nonsense_Mutation SNP G G T TCGA-R6-A6DN-01B-11D-A31U-09 TCGA-R6-A6DN-10A-01D-A31U-09 g.chr16:31199660G>T c.814G>T c.(814-816)Gga>Tga p.G272* ESCA 16 31201636 31201636 + Silent SNP T T A TCGA-L5-A4OP-01A-11D-A27G-09 TCGA-L5-A4OP-11A-11D-A27G-09 g.chr16:31201636T>A c.1209T>A c.(1207-1209)ggT>ggA p.G403G ESCA 16 31201647 31201647 + Missense_Mutation SNP G G T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 g.chr16:31201647G>T c.1220G>T c.(1219-1221)cGa>cTa p.R407L GBM 16 31202308 31202308 + Missense_Mutation SNP G G A TCGA-06-0646-01A-01D-1492-08 TCGA-06-0646-10A-01D-1492-08 g.chr16:31202308G>A c.1418G>A c.(1417-1419)cGt>cAt p.R473H GBMLGG 16 31195601 31195601 + Missense_Mutation SNP A A G TCGA-DU-A76K-01A-11D-A33T-08 TCGA-DU-A76K-10A-01D-A33W-08 g.chr16:31195601A>G c.407A>G c.(406-408)tAt>tGt p.Y136C GBMLGG 16 31199645 31199645 + Splice_Site SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr16:31199645G>T c.e8-1 GBMLGG 16 31200459 31200461 + In_Frame_Del DEL ACA ACA - TCGA-EZ-7264-01A-11D-2024-08 TCGA-EZ-7264-10A-01D-2024-08 g.chr16:31200459_31200461delACA c.848_850delACA c.(847-852)gacaac>gac p.N285del GBMLGG 16 31202308 31202308 + Missense_Mutation SNP G G A TCGA-06-0646-01A-01D-1492-08 TCGA-06-0646-10A-01D-1492-08 g.chr16:31202308G>A c.1418G>A c.(1417-1419)cGt>cAt p.R473H HNSC 16 31193962 31193962 + Frame_Shift_Del DEL C C - TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 g.chr16:31193962delC c.167delC c.(166-168)tctfs p.S57fs HNSC 16 31195651 31195651 + Nonsense_Mutation SNP C C T TCGA-CQ-A4CA-01A-11D-A25D-08 TCGA-CQ-A4CA-10A-01D-A25E-08 g.chr16:31195651C>T c.457C>T c.(457-459)Cag>Tag p.Q153* HNSC 16 31202080 31202080 + Missense_Mutation SNP A A G TCGA-CV-A6JO-01B-11D-A34J-08 TCGA-CV-A6JO-10A-01D-A34M-08 g.chr16:31202080A>G c.1310A>G c.(1309-1311)aAc>aGc p.N437S HNSC 16 31202320 31202320 + Missense_Mutation SNP G G C TCGA-KU-A66S-01A-21D-A30E-08 TCGA-KU-A66S-10A-01D-A30H-08 g.chr16:31202320G>C c.1430G>C c.(1429-1431)gGa>gCa p.G477A KIPAN 16 31193930 31193931 + Missense_Mutation DNP GG GG AC TCGA-B2-5641-01A-01D-1534-10 TCGA-B2-5641-10A-01D-1535-10 g.chr16:31193930_31193931GG>AC c.135_136GG>AC c.(133-138)acGGac>acACac p.D46H KIPAN 16 31196376 31196376 + Missense_Mutation SNP G G A TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 g.chr16:31196376G>A c.640G>A c.(640-642)Gga>Aga p.G214R KIPAN 16 31201624 31201624 + Silent SNP T T C TCGA-EU-5905-01A-11D-1669-08 TCGA-EU-5905-10A-01D-1669-08 g.chr16:31201624T>C c.1197T>C c.(1195-1197)ggT>ggC p.G399G KIPAN 16 31202109 31202110 + Missense_Mutation DNP TG TG GT TCGA-B8-5553-01A-01D-1534-10 TCGA-B8-5553-10A-01D-1535-10 g.chr16:31202109_31202110TG>GT c.1339_1340TG>GT c.(1339-1341)TGt>GTt p.C447V KIPAN 16 31202112 31202112 + Nonsense_Mutation SNP A A T TCGA-B8-5553-01A-01D-1534-10 TCGA-B8-5553-10A-01D-1535-10 g.chr16:31202112A>T c.1342A>T c.(1342-1344)Aag>Tag p.K448* KIPAN 16 31202116 31202116 + Frame_Shift_Del DEL C C - TCGA-B8-5553-01A-01D-1534-10 TCGA-B8-5553-10A-01D-1535-10 g.chr16:31202116delC c.1346delC c.(1345-1347)gccfs p.A449fs KIRC 16 31193930 31193931 + Missense_Mutation DNP GG GG AC TCGA-B2-5641-01A-01D-1534-10 TCGA-B2-5641-10A-01D-1535-10 g.chr16:31193930_31193931GG>AC c.135_136GG>AC c.(133-138)acGGac>acACac p.D46H KIRC 16 31196376 31196376 + Missense_Mutation SNP G G A TCGA-B8-5162-01A-01D-1421-08 TCGA-B8-5162-10A-01D-1421-08 g.chr16:31196376G>A c.640G>A c.(640-642)Gga>Aga p.G214R KIRC 16 31201624 31201624 + Silent SNP T T C TCGA-EU-5905-01A-11D-1669-08 TCGA-EU-5905-10A-01D-1669-08 g.chr16:31201624T>C c.1197T>C c.(1195-1197)ggT>ggC p.G399G KIRC 16 31202109 31202110 + Missense_Mutation DNP TG TG GT TCGA-B8-5553-01A-01D-1534-10 TCGA-B8-5553-10A-01D-1535-10 g.chr16:31202109_31202110TG>GT c.1339_1340TG>GT c.(1339-1341)TGt>GTt p.C447V KIRC 16 31202112 31202112 + Nonsense_Mutation SNP A A T TCGA-B8-5553-01A-01D-1534-10 TCGA-B8-5553-10A-01D-1535-10 g.chr16:31202112A>T c.1342A>T c.(1342-1344)Aag>Tag p.K448* KIRC 16 31202116 31202116 + Frame_Shift_Del DEL C C - TCGA-B8-5553-01A-01D-1534-10 TCGA-B8-5553-10A-01D-1535-10 g.chr16:31202116delC c.1346delC c.(1345-1347)gccfs p.A449fs LGG 16 31195601 31195601 + Missense_Mutation SNP A A G TCGA-DU-A76K-01A-11D-A33T-08 TCGA-DU-A76K-10A-01D-A33W-08 g.chr16:31195601A>G c.407A>G c.(406-408)tAt>tGt p.Y136C LGG 16 31199645 31199645 + Splice_Site SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr16:31199645G>T c.e8-1 LGG 16 31200459 31200461 + In_Frame_Del DEL ACA ACA - TCGA-EZ-7264-01A-11D-2024-08 TCGA-EZ-7264-10A-01D-2024-08 g.chr16:31200459_31200461delACA c.848_850delACA c.(847-852)gacaac>gac p.N285del LIHC 16 31196408 31196408 + Silent SNP C C T TCGA-4R-AA8I-01A-11D-A382-10 TCGA-4R-AA8I-10B-01D-A385-10 g.chr16:31196408C>T c.672C>T c.(670-672)ggC>ggT p.G224G LIHC 16 31201608 31201608 + Missense_Mutation SNP G G T TCGA-DD-A1EF-01A-11D-A12Z-10 TCGA-DD-A1EF-10A-01D-A12Z-10 g.chr16:31201608G>T c.1181G>T c.(1180-1182)cGt>cTt p.R394L LIHC 16 31202283 31202283 + Splice_Site DEL G G - TCGA-DD-A1EG-01A-11D-A20W-10 TCGA-DD-A1EG-10A-01D-A20W-10 g.chr16:31202283delG c.e14-1 LUAD 16 31196353 31196353 + Missense_Mutation SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 g.chr16:31196353G>C c.617G>C c.(616-618)gGt>gCt p.G206A LUAD 16 31196454 31196454 + Missense_Mutation SNP G G A TCGA-55-8511-01A-11D-2393-08 TCGA-55-8511-10A-01D-2393-08 g.chr16:31196454G>A c.718G>A c.(718-720)Gaa>Aaa p.E240K LUAD 16 31200443 31200443 + Splice_Site SNP G G A TCGA-MP-A4TI-01A-21D-A24P-08 TCGA-MP-A4TI-10A-01D-A24P-08 g.chr16:31200443G>A c.e9-1 LUAD 16 31201042 31201042 + Silent SNP C C G TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 g.chr16:31201042C>G c.993C>G c.(991-993)ggC>ggG p.G331G LUAD 16 31202352 31202352 + Missense_Mutation SNP G G T TCGA-69-7974-01A-11D-2184-08 TCGA-69-7974-10A-01D-2184-08 g.chr16:31202352G>T c.1462G>T c.(1462-1464)Ggc>Tgc p.G488C LUAD 16 31202719 31202719 + Splice_Site SNP G G T TCGA-49-4507-01A-01D-1265-08 TCGA-49-4507-11A-01D-1265-08 g.chr16:31202719G>T c.e15-1 LUSC 16 31196347 31196347 + Missense_Mutation SNP G G T TCGA-51-4080-01A-01D-1458-08 TCGA-51-4080-11A-01D-1458-08 g.chr16:31196347G>T c.611G>T c.(610-612)gGc>gTc p.G204V PAAD 16 31201632 31201634 + In_Frame_Del DEL GTG GTG - TCGA-HZ-8637-01A-11D-2396-08 TCGA-HZ-8637-10A-01D-2396-08 g.chr16:31201632_31201634delGTG c.1205_1207delGTG c.(1204-1209)agtggt>agt p.G406del PAAD 16 31202336 31202336 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr16:31202336C>T c.1446C>T c.(1444-1446)ggC>ggT p.G482G SKCM 16 31195177 31195177 + Splice_Site SNP A A T TCGA-D3-A2JF-06A-11D-A196-08 TCGA-D3-A2JF-10A-01D-A198-08 g.chr16:31195177A>T c.e4-1 SKCM 16 31195198 31195198 + Silent SNP A A T TCGA-EE-A29H-06A-12D-A197-08 TCGA-EE-A29H-10A-01D-A199-08 g.chr16:31195198A>T c.210A>T c.(208-210)tcA>tcT p.S70S SKCM 16 31195273 31195273 + Silent SNP C C T TCGA-EE-A29N-06A-12D-A197-08 TCGA-EE-A29N-10A-01D-A199-08 g.chr16:31195273C>T c.285C>T c.(283-285)tcC>tcT p.S95S SKCM 16 31198144 31198144 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 g.chr16:31198144C>T c.786C>T c.(784-786)ttC>ttT p.F262F SKCM 16 31200457 31200457 + Silent SNP A A G TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 g.chr16:31200457A>G c.846A>G c.(844-846)tcA>tcG p.S282S SKCM 16 31200472 31200472 + Silent SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr16:31200472C>T c.861C>T c.(859-861)atC>atT p.I287I SKCM 16 31201371 31201371 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr16:31201371C>T c.1077C>T c.(1075-1077)ttC>ttT p.F359F SKCM 16 31202348 31202348 + Silent SNP C C T TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 g.chr16:31202348C>T c.1458C>T c.(1456-1458)ggC>ggT p.G486G SKCM 16 31202393 31202393 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 g.chr16:31202393G>A c.1503G>A c.(1501-1503)ggG>ggA p.G501G

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 16 31199643 31199643 single base substitution A T downstream_gene_variant BLCA-CN 16 31199643 31199643 single base substitution A T exon_variant BLCA-CN 16 31199643 31199643 single base substitution A T splice_region_variant BLCA-CN 16 31199643 31199643 single base substitution A T upstream_gene_variant BLCA-US 16 31195261 31195261 single base substitution C A downstream_gene_variant BLCA-US 16 31195261 31195261 single base substitution C A exon_variant BLCA-US 16 31195261 31195261 single base substitution C A stop_gained Y90* 270C>A BLCA-US 16 31195261 31195261 single base substitution C A stop_gained Y91* 273C>A BLCA-US 16 31195261 31195261 single base substitution C A upstream_gene_variant BLCA-US 16 31195651 31195651 single base substitution C T downstream_gene_variant BLCA-US 16 31195651 31195651 single base substitution C T exon_variant BLCA-US 16 31195651 31195651 single base substitution C T stop_gained Q152* 454C>T BLCA-US 16 31195651 31195651 single base substitution C T stop_gained Q153* 457C>T BLCA-US 16 31195651 31195651 single base substitution C T upstream_gene_variant BLCA-US 16 31201394 31201394 single base substitution C A 3_prime_UTR_variant BLCA-US 16 31201394 31201394 single base substitution C A downstream_gene_variant BLCA-US 16 31201394 31201394 single base substitution C A exon_variant BLCA-US 16 31201394 31201394 single base substitution C A stop_gained S366* 1097C>A BLCA-US 16 31201394 31201394 single base substitution C A stop_gained S367* 1100C>A BLCA-US 16 31201394 31201394 single base substitution C A stop_gained S368* 1103C>A BLCA-US 16 31201394 31201394 single base substitution C A upstream_gene_variant BLCA-US 16 31202302 31202302 single base substitution A G 3_prime_UTR_variant BLCA-US 16 31202302 31202302 single base substitution A G downstream_gene_variant BLCA-US 16 31202302 31202302 single base substitution A G exon_variant BLCA-US 16 31202302 31202302 single base substitution A G missense_variant D470G 1409A>G BLCA-US 16 31202302 31202302 single base substitution A G missense_variant D471G 1412A>G BLCA-US 16 31202302 31202302 single base substitution A G missense_variant D472G 1415A>G BRCA-EU 16 31186542 31186542 single base substitution G A upstream_gene_variant BRCA-EU 16 31187354 31187354 insertion of <=200bp - A upstream_gene_variant BRCA-EU 16 31187543 31187543 single base substitution A T upstream_gene_variant BRCA-EU 16 31188416 31188416 single base substitution T C upstream_gene_variant BRCA-EU 16 31188532 31188532 single base substitution C G upstream_gene_variant BRCA-EU 16 31188657 31188657 deletion of <=200bp T - upstream_gene_variant BRCA-EU 16 31188818 31188818 deletion of <=200bp T - upstream_gene_variant BRCA-EU 16 31190315 31190315 single base substitution C T upstream_gene_variant BRCA-EU 16 31191258 31191258 single base substitution C T upstream_gene_variant BRCA-EU 16 31191548 31191548 single base substitution G T missense_variant D5Y 13G>T BRCA-EU 16 31191548 31191548 single base substitution G T splice_region_variant BRCA-EU 16 31191548 31191548 single base substitution G T upstream_gene_variant BRCA-EU 16 31191636 31191636 single base substitution G A intron_variant BRCA-EU 16 31191636 31191636 single base substitution G A upstream_gene_variant BRCA-EU 16 31192829 31192829 single base substitution C A intron_variant BRCA-EU 16 31192829 31192829 single base substitution C A upstream_gene_variant BRCA-EU 16 31192861 31192861 single base substitution C T intron_variant BRCA-EU 16 31192861 31192861 single base substitution C T upstream_gene_variant BRCA-EU 16 31197815 31197815 insertion of <=200bp - A downstream_gene_variant BRCA-EU 16 31197815 31197815 insertion of <=200bp - A exon_variant BRCA-EU 16 31197815 31197815 insertion of <=200bp - A intron_variant BRCA-EU 16 31197815 31197815 insertion of <=200bp - A upstream_gene_variant BRCA-EU 16 31197862 31197862 single base substitution T A downstream_gene_variant BRCA-EU 16 31197862 31197862 single base substitution T A exon_variant BRCA-EU 16 31197862 31197862 single base substitution T A intron_variant BRCA-EU 16 31197862 31197862 single base substitution T A upstream_gene_variant BRCA-EU 16 31198185 31198185 single base substitution C G downstream_gene_variant BRCA-EU 16 31198185 31198185 single base substitution C G exon_variant BRCA-EU 16 31198185 31198185 single base substitution C G intron_variant BRCA-EU 16 31198185 31198185 single base substitution C G upstream_gene_variant BRCA-EU 16 31199338 31199338 single base substitution C T downstream_gene_variant BRCA-EU 16 31199338 31199338 single base substitution C T exon_variant BRCA-EU 16 31199338 31199338 single base substitution C T intron_variant BRCA-EU 16 31199338 31199338 single base substitution C T upstream_gene_variant BRCA-EU 16 31201504 31201504 single base substitution G C downstream_gene_variant BRCA-EU 16 31201504 31201504 single base substitution G C intron_variant BRCA-EU 16 31201504 31201504 single base substitution G C upstream_gene_variant BRCA-EU 16 31202769 31202769 single base substitution C T 3_prime_UTR_variant BRCA-EU 16 31202769 31202769 single base substitution C T downstream_gene_variant BRCA-EU 16 31202769 31202769 single base substitution C T exon_variant BRCA-EU 16 31203046 31203046 single base substitution G A 3_prime_UTR_variant BRCA-EU 16 31203046 31203046 single base substitution G A downstream_gene_variant BRCA-EU 16 31203348 31203348 single base substitution G A downstream_gene_variant BRCA-EU 16 31203349 31203349 single base substitution G C downstream_gene_variant BRCA-EU 16 31204291 31204291 single base substitution T G downstream_gene_variant BRCA-EU 16 31206007 31206007 single base substitution C G downstream_gene_variant BRCA-EU 16 31206670 31206670 single base substitution C G downstream_gene_variant BRCA-FR 16 31188532 31188532 single base substitution C G upstream_gene_variant BRCA-FR 16 31190922 31190922 single base substitution G A upstream_gene_variant BRCA-KR 16 31191572 31191572 single base substitution G A intron_variant BRCA-KR 16 31191572 31191572 single base substitution G A upstream_gene_variant BRCA-UK 16 31190315 31190315 single base substitution C T upstream_gene_variant BRCA-UK 16 31201451 31201451 single base substitution G A 3_prime_UTR_variant BRCA-UK 16 31201451 31201451 single base substitution G A downstream_gene_variant BRCA-UK 16 31201451 31201451 single base substitution G A exon_variant BRCA-UK 16 31201451 31201451 single base substitution G A missense_variant R385Q 1154G>A BRCA-UK 16 31201451 31201451 single base substitution G A missense_variant R386Q 1157G>A BRCA-UK 16 31201451 31201451 single base substitution G A missense_variant R387Q 1160G>A BRCA-UK 16 31201451 31201451 single base substitution G A upstream_gene_variant BRCA-UK 16 31205276 31205276 single base substitution C T downstream_gene_variant BRCA-US 16 31193960 31193962 deletion of <=200bp TTC - exon_variant BRCA-US 16 31193960 31193962 deletion of <=200bp TTC - inframe_deletion YS55Y BRCA-US 16 31193960 31193962 deletion of <=200bp TTC - upstream_gene_variant BRCA-US 16 31195247 31195247 single base substitution T A downstream_gene_variant BRCA-US 16 31195247 31195247 single base substitution T A exon_variant BRCA-US 16 31195247 31195247 single base substitution T A missense_variant S86T 256T>A BRCA-US 16 31195247 31195247 single base substitution T A missense_variant S87T 259T>A BRCA-US 16 31195247 31195247 single base substitution T A upstream_gene_variant BRCA-US 16 31202420 31202420 single base substitution G C 3_prime_UTR_variant BRCA-US 16 31202420 31202420 single base substitution G C downstream_gene_variant BRCA-US 16 31202420 31202420 single base substitution G C exon_variant BRCA-US 16 31202420 31202420 single base substitution G C missense_variant K509N 1527G>C BRCA-US 16 31202420 31202420 single base substitution G C missense_variant K510N 1530G>C BRCA-US 16 31202420 31202420 single base substitution G C missense_variant K511N 1533G>C BTCA-JP 16 31191499 31191499 single base substitution C A 5_prime_UTR_variant BTCA-JP 16 31191499 31191499 single base substitution C A exon_variant BTCA-JP 16 31191499 31191499 single base substitution C A upstream_gene_variant BTCA-JP 16 31196420 31196420 single base substitution C T downstream_gene_variant BTCA-JP 16 31196420 31196420 single base substitution C T exon_variant BTCA-JP 16 31196420 31196420 single base substitution C T synonymous_variant G227G 681C>T BTCA-JP 16 31196420 31196420 single base substitution C T synonymous_variant G228G 684C>T BTCA-JP 16 31196420 31196420 single base substitution C T upstream_gene_variant BTCA-JP 16 31197008 31197008 single base substitution C T downstream_gene_variant BTCA-JP 16 31197008 31197008 single base substitution C T exon_variant BTCA-JP 16 31197008 31197008 single base substitution C T intron_variant BTCA-JP 16 31197008 31197008 single base substitution C T upstream_gene_variant BTCA-JP 16 31202849 31202849 single base substitution C T 3_prime_UTR_variant BTCA-JP 16 31202849 31202849 single base substitution C T downstream_gene_variant BTCA-JP 16 31202849 31202849 single base substitution C T exon_variant CESC-US 16 31201644 31201644 single base substitution G T 3_prime_UTR_variant CESC-US 16 31201644 31201644 single base substitution G T downstream_gene_variant CESC-US 16 31201644 31201644 single base substitution G T exon_variant CESC-US 16 31201644 31201644 single base substitution G T missense_variant G405V 1214G>T CESC-US 16 31201644 31201644 single base substitution G T missense_variant G406V 1217G>T CESC-US 16 31201644 31201644 single base substitution G T missense_variant G407V 1220G>T CESC-US 16 31201644 31201644 single base substitution G T upstream_gene_variant CLLE-ES 16 31199471 31199471 single base substitution C T downstream_gene_variant CLLE-ES 16 31199471 31199471 single base substitution C T exon_variant CLLE-ES 16 31199471 31199471 single base substitution C T intron_variant CLLE-ES 16 31199471 31199471 single base substitution C T upstream_gene_variant CLLE-ES 16 31200451 31200451 single base substitution T A 3_prime_UTR_variant CLLE-ES 16 31200451 31200451 single base substitution T A downstream_gene_variant CLLE-ES 16 31200451 31200451 single base substitution T A exon_variant CLLE-ES 16 31200451 31200451 single base substitution T A missense_variant D279E 837T>A CLLE-ES 16 31200451 31200451 single base substitution T A missense_variant D280E 840T>A CLLE-ES 16 31200451 31200451 single base substitution T A missense_variant D281E 843T>A CLLE-ES 16 31200451 31200451 single base substitution T A upstream_gene_variant COAD-US 16 31193862 31193862 single base substitution C T exon_variant COAD-US 16 31193862 31193862 single base substitution C T stop_gained Q23* 67C>T COAD-US 16 31193862 31193862 single base substitution C T upstream_gene_variant COAD-US 16 31193942 31193942 single base substitution C A exon_variant COAD-US 16 31193942 31193942 single base substitution C A synonymous_variant G49G 147C>A COAD-US 16 31193942 31193942 single base substitution C A upstream_gene_variant COAD-US 16 31195645 31195645 deletion of <=200bp C - downstream_gene_variant COAD-US 16 31195645 31195645 deletion of <=200bp C - exon_variant COAD-US 16 31195645 31195645 deletion of <=200bp C - frameshift_variant P150 COAD-US 16 31195645 31195645 deletion of <=200bp C - frameshift_variant P151 COAD-US 16 31195645 31195645 deletion of <=200bp C - upstream_gene_variant COAD-US 16 31196405 31196405 single base substitution C T downstream_gene_variant COAD-US 16 31196405 31196405 single base substitution C T exon_variant COAD-US 16 31196405 31196405 single base substitution C T synonymous_variant G222G 666C>T COAD-US 16 31196405 31196405 single base substitution C T synonymous_variant G223G 669C>T COAD-US 16 31196405 31196405 single base substitution C T upstream_gene_variant COAD-US 16 31196420 31196420 single base substitution C T downstream_gene_variant COAD-US 16 31196420 31196420 single base substitution C T exon_variant COAD-US 16 31196420 31196420 single base substitution C T synonymous_variant G227G 681C>T COAD-US 16 31196420 31196420 single base substitution C T synonymous_variant G228G 684C>T COAD-US 16 31196420 31196420 single base substitution C T upstream_gene_variant COCA-CN 16 31195632 31195632 single base substitution G A downstream_gene_variant COCA-CN 16 31195632 31195632 single base substitution G A exon_variant COCA-CN 16 31195632 31195632 single base substitution G A synonymous_variant Q145Q 435G>A COCA-CN 16 31195632 31195632 single base substitution G A synonymous_variant Q146Q 438G>A COCA-CN 16 31195632 31195632 single base substitution G A upstream_gene_variant COCA-CN 16 31199621 31199621 single base substitution G T downstream_gene_variant COCA-CN 16 31199621 31199621 single base substitution G T exon_variant COCA-CN 16 31199621 31199621 single base substitution G T intron_variant COCA-CN 16 31199621 31199621 single base substitution G T upstream_gene_variant COCA-CN 16 31201672 31201672 single base substitution T C 3_prime_UTR_variant COCA-CN 16 31201672 31201672 single base substitution T C downstream_gene_variant COCA-CN 16 31201672 31201672 single base substitution T C exon_variant COCA-CN 16 31201672 31201672 single base substitution T C synonymous_variant G414G 1242T>C COCA-CN 16 31201672 31201672 single base substitution T C synonymous_variant G415G 1245T>C COCA-CN 16 31201672 31201672 single base substitution T C synonymous_variant G416G 1248T>C COCA-CN 16 31201672 31201672 single base substitution T C upstream_gene_variant COCA-CN 16 31201675 31201675 single base substitution C T 3_prime_UTR_variant COCA-CN 16 31201675 31201675 single base substitution C T downstream_gene_variant COCA-CN 16 31201675 31201675 single base substitution C T exon_variant COCA-CN 16 31201675 31201675 single base substitution C T synonymous_variant G415G 1245C>T COCA-CN 16 31201675 31201675 single base substitution C T synonymous_variant G416G 1248C>T COCA-CN 16 31201675 31201675 single base substitution C T synonymous_variant G417G 1251C>T COCA-CN 16 31201675 31201675 single base substitution C T upstream_gene_variant COCA-CN 16 31201759 31201759 single base substitution C T downstream_gene_variant COCA-CN 16 31201759 31201759 single base substitution C T exon_variant COCA-CN 16 31201759 31201759 single base substitution C T intron_variant COCA-CN 16 31202031 31202031 single base substitution G A downstream_gene_variant COCA-CN 16 31202031 31202031 single base substitution G A exon_variant COCA-CN 16 31202031 31202031 single base substitution G A intron_variant COCA-CN 16 31202134 31202134 single base substitution C T 3_prime_UTR_variant COCA-CN 16 31202134 31202134 single base substitution C T downstream_gene_variant COCA-CN 16 31202134 31202134 single base substitution C T exon_variant COCA-CN 16 31202134 31202134 single base substitution C T missense_variant P454L 1361C>T COCA-CN 16 31202134 31202134 single base substitution C T missense_variant P455L 1364C>T COCA-CN 16 31202134 31202134 single base substitution C T missense_variant P456L 1367C>T COCA-CN 16 31202206 31202206 single base substitution A C downstream_gene_variant COCA-CN 16 31202206 31202206 single base substitution A C intron_variant ESAD-UK 16 31187044 31187044 single base substitution A T upstream_gene_variant ESAD-UK 16 31188657 31188657 deletion of <=200bp T - upstream_gene_variant ESAD-UK 16 31189448 31189448 single base substitution A C upstream_gene_variant ESAD-UK 16 31190578 31190578 single base substitution C T upstream_gene_variant ESAD-UK 16 31191289 31191289 single base substitution T C upstream_gene_variant ESAD-UK 16 31198197 31198197 single base substitution A G downstream_gene_variant ESAD-UK 16 31198197 31198197 single base substitution A G exon_variant ESAD-UK 16 31198197 31198197 single base substitution A G intron_variant ESAD-UK 16 31198197 31198197 single base substitution A G upstream_gene_variant ESAD-UK 16 31202086 31202086 single base substitution C G 3_prime_UTR_variant ESAD-UK 16 31202086 31202086 single base substitution C G downstream_gene_variant ESAD-UK 16 31202086 31202086 single base substitution C G exon_variant ESAD-UK 16 31202086 31202086 single base substitution C G missense_variant S438C 1313C>G ESAD-UK 16 31202086 31202086 single base substitution C G missense_variant S439C 1316C>G ESAD-UK 16 31202086 31202086 single base substitution C G missense_variant S440C 1319C>G ESAD-UK 16 31202262 31202262 single base substitution G A downstream_gene_variant ESAD-UK 16 31202262 31202262 single base substitution G A intron_variant ESAD-UK 16 31202937 31202937 single base substitution C G 3_prime_UTR_variant ESAD-UK 16 31202937 31202937 single base substitution C G downstream_gene_variant ESAD-UK 16 31203203 31203203 single base substitution C T downstream_gene_variant ESAD-UK 16 31203545 31203545 single base substitution T A downstream_gene_variant ESAD-UK 16 31206753 31206753 single base substitution C G downstream_gene_variant ESAD-UK 16 31207214 31207214 insertion of <=200bp - A downstream_gene_variant ESCA-CN 16 31202295 31202295 single base substitution G A 3_prime_UTR_variant ESCA-CN 16 31202295 31202295 single base substitution G A downstream_gene_variant ESCA-CN 16 31202295 31202295 single base substitution G A exon_variant ESCA-CN 16 31202295 31202295 single base substitution G A missense_variant G468R 1402G>A ESCA-CN 16 31202295 31202295 single base substitution G A missense_variant G469R 1405G>A ESCA-CN 16 31202295 31202295 single base substitution G A missense_variant G470R 1408G>A ESCA-CN 16 31202416 31202416 single base substitution G A 3_prime_UTR_variant ESCA-CN 16 31202416 31202416 single base substitution G A downstream_gene_variant ESCA-CN 16 31202416 31202416 single base substitution G A exon_variant ESCA-CN 16 31202416 31202416 single base substitution G A missense_variant G508D 1523G>A ESCA-CN 16 31202416 31202416 single base substitution G A missense_variant G509D 1526G>A ESCA-CN 16 31202416 31202416 single base substitution G A missense_variant G510D 1529G>A GBM-US 16 31202308 31202308 single base substitution G A 3_prime_UTR_variant GBM-US 16 31202308 31202308 single base substitution G A downstream_gene_variant GBM-US 16 31202308 31202308 single base substitution G A exon_variant GBM-US 16 31202308 31202308 single base substitution G A missense_variant R472H 1415G>A GBM-US 16 31202308 31202308 single base substitution G A missense_variant R473H 1418G>A GBM-US 16 31202308 31202308 single base substitution G A missense_variant R474H 1421G>A KIRC-US 16 31193930 31193930 single base substitution G A exon_variant KIRC-US 16 31193930 31193930 single base substitution G A synonymous_variant T45T 135G>A KIRC-US 16 31193930 31193930 single base substitution G A upstream_gene_variant KIRC-US 16 31193931 31193931 single base substitution G C exon_variant KIRC-US 16 31193931 31193931 single base substitution G C missense_variant D46H 136G>C KIRC-US 16 31193931 31193931 single base substitution G C upstream_gene_variant KIRC-US 16 31201624 31201624 single base substitution T C 3_prime_UTR_variant KIRC-US 16 31201624 31201624 single base substitution T C downstream_gene_variant KIRC-US 16 31201624 31201624 single base substitution T C exon_variant KIRC-US 16 31201624 31201624 single base substitution T C synonymous_variant G398G 1194T>C KIRC-US 16 31201624 31201624 single base substitution T C synonymous_variant G399G 1197T>C KIRC-US 16 31201624 31201624 single base substitution T C synonymous_variant G400G 1200T>C KIRC-US 16 31201624 31201624 single base substitution T C upstream_gene_variant KIRC-US 16 31202109 31202109 single base substitution T G 3_prime_UTR_variant KIRC-US 16 31202109 31202109 single base substitution T G downstream_gene_variant KIRC-US 16 31202109 31202109 single base substitution T G exon_variant KIRC-US 16 31202109 31202109 single base substitution T G missense_variant C446G 1336T>G KIRC-US 16 31202109 31202109 single base substitution T G missense_variant C447G 1339T>G KIRC-US 16 31202109 31202109 single base substitution T G missense_variant C448G 1342T>G KIRC-US 16 31202110 31202110 single base substitution G T 3_prime_UTR_variant KIRC-US 16 31202110 31202110 single base substitution G T downstream_gene_variant KIRC-US 16 31202110 31202110 single base substitution G T exon_variant KIRC-US 16 31202110 31202110 single base substitution G T missense_variant C446F 1337G>T KIRC-US 16 31202110 31202110 single base substitution G T missense_variant C447F 1340G>T KIRC-US 16 31202110 31202110 single base substitution G T missense_variant C448F 1343G>T KIRC-US 16 31202112 31202112 single base substitution A T 3_prime_UTR_variant KIRC-US 16 31202112 31202112 single base substitution A T downstream_gene_variant KIRC-US 16 31202112 31202112 single base substitution A T exon_variant KIRC-US 16 31202112 31202112 single base substitution A T stop_gained K447* 1339A>T KIRC-US 16 31202112 31202112 single base substitution A T stop_gained K448* 1342A>T KIRC-US 16 31202112 31202112 single base substitution A T stop_gained K449* 1345A>T KIRC-US 16 31202116 31202116 deletion of <=200bp C - 3_prime_UTR_variant KIRC-US 16 31202116 31202116 deletion of <=200bp C - downstream_gene_variant KIRC-US 16 31202116 31202116 deletion of <=200bp C - exon_variant KIRC-US 16 31202116 31202116 deletion of <=200bp C - frameshift_variant A448 KIRC-US 16 31202116 31202116 deletion of <=200bp C - frameshift_variant A449 KIRC-US 16 31202116 31202116 deletion of <=200bp C - frameshift_variant A450 LAML-KR 16 31196105 31196105 single base substitution T C downstream_gene_variant LAML-KR 16 31196105 31196105 single base substitution T C intron_variant LAML-KR 16 31196105 31196105 single base substitution T C upstream_gene_variant LAML-KR 16 31199621 31199621 single base substitution G T downstream_gene_variant LAML-KR 16 31199621 31199621 single base substitution G T exon_variant LAML-KR 16 31199621 31199621 single base substitution G T intron_variant LAML-KR 16 31199621 31199621 single base substitution G T upstream_gene_variant LGG-US 16 31200459 31200461 deletion of <=200bp ACA - 3_prime_UTR_variant LGG-US 16 31200459 31200461 deletion of <=200bp ACA - downstream_gene_variant LGG-US 16 31200459 31200461 deletion of <=200bp ACA - exon_variant LGG-US 16 31200459 31200461 deletion of <=200bp ACA - inframe_deletion DN282D LGG-US 16 31200459 31200461 deletion of <=200bp ACA - inframe_deletion DN283D LGG-US 16 31200459 31200461 deletion of <=200bp ACA - inframe_deletion DN284D LGG-US 16 31200459 31200461 deletion of <=200bp ACA - upstream_gene_variant LICA-CN 16 31200986 31200986 single base substitution A G downstream_gene_variant LICA-CN 16 31200986 31200986 single base substitution A G missense_variant T312A 934A>G LICA-CN 16 31200986 31200986 single base substitution A G missense_variant T313A 937A>G LICA-CN 16 31200986 31200986 single base substitution A G missense_variant T314A 940A>G LICA-CN 16 31200986 31200986 single base substitution A G splice_region_variant LICA-CN 16 31200986 31200986 single base substitution A G upstream_gene_variant LICA-CN 16 31201607 31201607 single base substitution C T 3_prime_UTR_variant LICA-CN 16 31201607 31201607 single base substitution C T downstream_gene_variant LICA-CN 16 31201607 31201607 single base substitution C T exon_variant LICA-CN 16 31201607 31201607 single base substitution C T missense_variant R393C 1177C>T LICA-CN 16 31201607 31201607 single base substitution C T missense_variant R394C 1180C>T LICA-CN 16 31201607 31201607 single base substitution C T missense_variant R395C 1183C>T LICA-CN 16 31201607 31201607 single base substitution C T upstream_gene_variant LIHC-US 16 31193931 31193931 single base substitution G C exon_variant LIHC-US 16 31193931 31193931 single base substitution G C missense_variant D46H 136G>C LIHC-US 16 31193931 31193931 single base substitution G C upstream_gene_variant LIHC-US 16 31201608 31201608 single base substitution G T 3_prime_UTR_variant LIHC-US 16 31201608 31201608 single base substitution G T downstream_gene_variant LIHC-US 16 31201608 31201608 single base substitution G T exon_variant LIHC-US 16 31201608 31201608 single base substitution G T missense_variant R393L 1178G>T LIHC-US 16 31201608 31201608 single base substitution G T missense_variant R394L 1181G>T LIHC-US 16 31201608 31201608 single base substitution G T missense_variant R395L 1184G>T LIHC-US 16 31201608 31201608 single base substitution G T upstream_gene_variant LINC-JP 16 31191406 31191406 single base substitution G A upstream_gene_variant LINC-JP 16 31195776 31195776 single base substitution T G downstream_gene_variant LINC-JP 16 31195776 31195776 single base substitution T G intron_variant LINC-JP 16 31195776 31195776 single base substitution T G upstream_gene_variant LINC-JP 16 31196154 31196154 single base substitution C G downstream_gene_variant LINC-JP 16 31196154 31196154 single base substitution C G intron_variant LINC-JP 16 31196154 31196154 single base substitution C G upstream_gene_variant LINC-JP 16 31196417 31196417 single base substitution C T downstream_gene_variant LINC-JP 16 31196417 31196417 single base substitution C T exon_variant LINC-JP 16 31196417 31196417 single base substitution C T synonymous_variant G226G 678C>T LINC-JP 16 31196417 31196417 single base substitution C T synonymous_variant G227G 681C>T LINC-JP 16 31196417 31196417 single base substitution C T upstream_gene_variant LINC-JP 16 31200575 31200575 deletion of <=200bp C - downstream_gene_variant LINC-JP 16 31200575 31200575 deletion of <=200bp C - intron_variant LINC-JP 16 31200575 31200575 deletion of <=200bp C - upstream_gene_variant LINC-JP 16 31201013 31201013 single base substitution A T 3_prime_UTR_variant LINC-JP 16 31201013 31201013 single base substitution A T downstream_gene_variant LINC-JP 16 31201013 31201013 single base substitution A T exon_variant LINC-JP 16 31201013 31201013 single base substitution A T missense_variant I321F 961A>T LINC-JP 16 31201013 31201013 single base substitution A T missense_variant I322F 964A>T LINC-JP 16 31201013 31201013 single base substitution A T missense_variant I323F 967A>T LINC-JP 16 31201013 31201013 single base substitution A T upstream_gene_variant LINC-JP 16 31201299 31201299 single base substitution T A downstream_gene_variant LINC-JP 16 31201299 31201299 single base substitution T A intron_variant LINC-JP 16 31201299 31201299 single base substitution T A upstream_gene_variant LIRI-JP 16 31188575 31188575 single base substitution T C upstream_gene_variant LIRI-JP 16 31190264 31190264 single base substitution T C upstream_gene_variant LIRI-JP 16 31196142 31196152 deletion of <=200bp TCTTTTTACTT - downstream_gene_variant LIRI-JP 16 31196142 31196152 deletion of <=200bp TCTTTTTACTT - intron_variant LIRI-JP 16 31196142 31196152 deletion of <=200bp TCTTTTTACTT - upstream_gene_variant LIRI-JP 16 31196216 31196216 single base substitution A G downstream_gene_variant LIRI-JP 16 31196216 31196216 single base substitution A G intron_variant LIRI-JP 16 31196216 31196216 single base substitution A G upstream_gene_variant LIRI-JP 16 31197531 31197531 single base substitution C A downstream_gene_variant LIRI-JP 16 31197531 31197531 single base substitution C A exon_variant LIRI-JP 16 31197531 31197531 single base substitution C A intron_variant LIRI-JP 16 31197531 31197531 single base substitution C A upstream_gene_variant LIRI-JP 16 31197595 31197595 single base substitution A G downstream_gene_variant LIRI-JP 16 31197595 31197595 single base substitution A G exon_variant LIRI-JP 16 31197595 31197595 single base substitution A G intron_variant LIRI-JP 16 31197595 31197595 single base substitution A G upstream_gene_variant LIRI-JP 16 31198017 31198017 single base substitution T C downstream_gene_variant LIRI-JP 16 31198017 31198017 single base substitution T C exon_variant LIRI-JP 16 31198017 31198017 single base substitution T C intron_variant LIRI-JP 16 31198017 31198017 single base substitution T C upstream_gene_variant LIRI-JP 16 31198631 31198631 single base substitution A T downstream_gene_variant LIRI-JP 16 31198631 31198631 single base substitution A T exon_variant LIRI-JP 16 31198631 31198631 single base substitution A T intron_variant LIRI-JP 16 31198631 31198631 single base substitution A T upstream_gene_variant LIRI-JP 16 31198796 31198796 single base substitution A T downstream_gene_variant LIRI-JP 16 31198796 31198796 single base substitution A T exon_variant LIRI-JP 16 31198796 31198796 single base substitution A T intron_variant LIRI-JP 16 31198796 31198796 single base substitution A T upstream_gene_variant LIRI-JP 16 31199507 31199507 single base substitution C A downstream_gene_variant LIRI-JP 16 31199507 31199507 single base substitution C A exon_variant LIRI-JP 16 31199507 31199507 single base substitution C A intron_variant LIRI-JP 16 31199507 31199507 single base substitution C A upstream_gene_variant LIRI-JP 16 31199899 31199899 single base substitution G T downstream_gene_variant LIRI-JP 16 31199899 31199899 single base substitution G T exon_variant LIRI-JP 16 31199899 31199899 single base substitution G T intron_variant LIRI-JP 16 31199899 31199899 single base substitution G T upstream_gene_variant LIRI-JP 16 31199900 31199900 single base substitution G T downstream_gene_variant LIRI-JP 16 31199900 31199900 single base substitution G T exon_variant LIRI-JP 16 31199900 31199900 single base substitution G T intron_variant LIRI-JP 16 31199900 31199900 single base substitution G T upstream_gene_variant LIRI-JP 16 31201585 31201585 single base substitution A G downstream_gene_variant LIRI-JP 16 31201585 31201585 single base substitution A G exon_variant LIRI-JP 16 31201585 31201585 single base substitution A G intron_variant LIRI-JP 16 31201585 31201585 single base substitution A G upstream_gene_variant LIRI-JP 16 31201858 31201858 single base substitution C T downstream_gene_variant LIRI-JP 16 31201858 31201858 single base substitution C T exon_variant LIRI-JP 16 31201858 31201858 single base substitution C T intron_variant LIRI-JP 16 31201973 31201973 single base substitution T G downstream_gene_variant LIRI-JP 16 31201973 31201973 single base substitution T G exon_variant LIRI-JP 16 31201973 31201973 single base substitution T G intron_variant LIRI-JP 16 31204973 31204973 single base substitution G C downstream_gene_variant LIRI-JP 16 31207443 31207443 single base substitution T G downstream_gene_variant LIRI-JP 16 31207446 31207446 single base substitution A G downstream_gene_variant LUSC-KR 16 31189370 31189370 single base substitution G T upstream_gene_variant LUSC-KR 16 31191967 31191967 single base substitution G T intron_variant LUSC-KR 16 31191967 31191967 single base substitution G T upstream_gene_variant LUSC-KR 16 31192074 31192074 single base substitution C A intron_variant LUSC-KR 16 31192074 31192074 single base substitution C A upstream_gene_variant LUSC-KR 16 31195613 31195613 single base substitution A C downstream_gene_variant LUSC-KR 16 31195613 31195613 single base substitution A C exon_variant LUSC-KR 16 31195613 31195613 single base substitution A C missense_variant Q139P 416A>C LUSC-KR 16 31195613 31195613 single base substitution A C missense_variant Q140P 419A>C LUSC-KR 16 31195613 31195613 single base substitution A C upstream_gene_variant LUSC-KR 16 31195753 31195753 single base substitution C T downstream_gene_variant LUSC-KR 16 31195753 31195753 single base substitution C T intron_variant LUSC-KR 16 31195753 31195753 single base substitution C T upstream_gene_variant LUSC-KR 16 31195759 31195759 single base substitution C T downstream_gene_variant LUSC-KR 16 31195759 31195759 single base substitution C T intron_variant LUSC-KR 16 31195759 31195759 single base substitution C T upstream_gene_variant LUSC-KR 16 31200297 31200297 single base substitution G T downstream_gene_variant LUSC-KR 16 31200297 31200297 single base substitution G T exon_variant LUSC-KR 16 31200297 31200297 single base substitution G T intron_variant LUSC-KR 16 31200297 31200297 single base substitution G T upstream_gene_variant LUSC-KR 16 31202674 31202674 single base substitution T G downstream_gene_variant LUSC-KR 16 31202674 31202674 single base substitution T G intron_variant LUSC-KR 16 31205460 31205460 single base substitution G T downstream_gene_variant LUSC-KR 16 31206438 31206438 single base substitution T A downstream_gene_variant LUSC-US 16 31196347 31196347 single base substitution G T downstream_gene_variant LUSC-US 16 31196347 31196347 single base substitution G T exon_variant LUSC-US 16 31196347 31196347 single base substitution G T missense_variant G203V 608G>T LUSC-US 16 31196347 31196347 single base substitution G T missense_variant G204V 611G>T LUSC-US 16 31196347 31196347 single base substitution G T upstream_gene_variant MALY-DE 16 31207445 31207445 insertion of <=200bp - A downstream_gene_variant MELA-AU 16 31186953 31186953 single base substitution T G upstream_gene_variant MELA-AU 16 31187272 31187272 single base substitution G A upstream_gene_variant MELA-AU 16 31189393 31189393 single base substitution C T upstream_gene_variant MELA-AU 16 31189860 31189860 single base substitution C T upstream_gene_variant MELA-AU 16 31190446 31190446 single base substitution G A upstream_gene_variant MELA-AU 16 31190661 31190661 single base substitution G A upstream_gene_variant MELA-AU 16 31191081 31191081 single base substitution G T upstream_gene_variant MELA-AU 16 31191159 31191159 single base substitution C T upstream_gene_variant MELA-AU 16 31191243 31191243 single base substitution G A upstream_gene_variant MELA-AU 16 31191244 31191244 single base substitution A T upstream_gene_variant MELA-AU 16 31191245 31191245 single base substitution G A upstream_gene_variant MELA-AU 16 31191395 31191395 single base substitution G A upstream_gene_variant MELA-AU 16 31191441 31191441 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 16 31191441 31191441 single base substitution C T upstream_gene_variant MELA-AU 16 31191602 31191602 single base substitution C T intron_variant MELA-AU 16 31191602 31191602 single base substitution C T upstream_gene_variant MELA-AU 16 31191681 31191681 single base substitution G A intron_variant MELA-AU 16 31191681 31191681 single base substitution G A upstream_gene_variant MELA-AU 16 31191959 31191959 single base substitution C T intron_variant MELA-AU 16 31191959 31191959 single base substitution C T upstream_gene_variant MELA-AU 16 31192022 31192022 single base substitution G A intron_variant MELA-AU 16 31192022 31192022 single base substitution G A upstream_gene_variant MELA-AU 16 31192377 31192377 single base substitution G A intron_variant MELA-AU 16 31192377 31192377 single base substitution G A upstream_gene_variant MELA-AU 16 31192944 31192944 single base substitution C T intron_variant MELA-AU 16 31192944 31192944 single base substitution C T upstream_gene_variant MELA-AU 16 31193037 31193037 single base substitution G C intron_variant MELA-AU 16 31193037 31193037 single base substitution G C upstream_gene_variant MELA-AU 16 31193291 31193291 single base substitution G A intron_variant MELA-AU 16 31193291 31193291 single base substitution G A upstream_gene_variant MELA-AU 16 31193367 31193367 single base substitution G A intron_variant MELA-AU 16 31193367 31193367 single base substitution G A upstream_gene_variant MELA-AU 16 31193670 31193670 single base substitution C T intron_variant MELA-AU 16 31193670 31193670 single base substitution C T upstream_gene_variant MELA-AU 16 31194498 31194498 single base substitution C T exon_variant MELA-AU 16 31194498 31194498 single base substitution C T intron_variant MELA-AU 16 31194498 31194498 single base substitution C T upstream_gene_variant MELA-AU 16 31194588 31194588 single base substitution A G exon_variant MELA-AU 16 31194588 31194588 single base substitution A G intron_variant MELA-AU 16 31194588 31194588 single base substitution A G upstream_gene_variant MELA-AU 16 31195339 31195339 single base substitution T C downstream_gene_variant MELA-AU 16 31195339 31195339 single base substitution T C intron_variant MELA-AU 16 31195339 31195339 single base substitution T C upstream_gene_variant MELA-AU 16 31195388 31195388 single base substitution G A downstream_gene_variant MELA-AU 16 31195388 31195388 single base substitution G A intron_variant MELA-AU 16 31195388 31195388 single base substitution G A upstream_gene_variant MELA-AU 16 31195475 31195475 single base substitution G A downstream_gene_variant MELA-AU 16 31195475 31195475 single base substitution G A intron_variant MELA-AU 16 31195475 31195475 single base substitution G A upstream_gene_variant MELA-AU 16 31195601 31195601 single base substitution A G downstream_gene_variant MELA-AU 16 31195601 31195601 single base substitution A G exon_variant MELA-AU 16 31195601 31195601 single base substitution A G missense_variant Y135C 404A>G MELA-AU 16 31195601 31195601 single base substitution A G missense_variant Y136C 407A>G MELA-AU 16 31195601 31195601 single base substitution A G upstream_gene_variant MELA-AU 16 31196225 31196225 single base substitution T G downstream_gene_variant MELA-AU 16 31196225 31196225 single base substitution T G intron_variant MELA-AU 16 31196225 31196225 single base substitution T G upstream_gene_variant MELA-AU 16 31196868 31196869 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 16 31196868 31196869 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 16 31196868 31196869 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 16 31196868 31196869 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 16 31197368 31197368 insertion of <=200bp - G downstream_gene_variant MELA-AU 16 31197368 31197368 insertion of <=200bp - G exon_variant MELA-AU 16 31197368 31197368 insertion of <=200bp - G intron_variant MELA-AU 16 31197368 31197368 insertion of <=200bp - G upstream_gene_variant MELA-AU 16 31197565 31197565 single base substitution G A downstream_gene_variant MELA-AU 16 31197565 31197565 single base substitution G A exon_variant MELA-AU 16 31197565 31197565 single base substitution G A intron_variant MELA-AU 16 31197565 31197565 single base substitution G A upstream_gene_variant MELA-AU 16 31198119 31198119 single base substitution C T downstream_gene_variant MELA-AU 16 31198119 31198119 single base substitution C T exon_variant MELA-AU 16 31198119 31198119 single base substitution C T intron_variant MELA-AU 16 31198119 31198119 single base substitution C T splice_region_variant MELA-AU 16 31198119 31198119 single base substitution C T upstream_gene_variant MELA-AU 16 31198364 31198364 single base substitution T C downstream_gene_variant MELA-AU 16 31198364 31198364 single base substitution T C exon_variant MELA-AU 16 31198364 31198364 single base substitution T C intron_variant MELA-AU 16 31198364 31198364 single base substitution T C upstream_gene_variant MELA-AU 16 31198579 31198579 single base substitution C T downstream_gene_variant MELA-AU 16 31198579 31198579 single base substitution C T exon_variant MELA-AU 16 31198579 31198579 single base substitution C T intron_variant MELA-AU 16 31198579 31198579 single base substitution C T upstream_gene_variant MELA-AU 16 31199219 31199219 single base substitution G C downstream_gene_variant MELA-AU 16 31199219 31199219 single base substitution G C exon_variant MELA-AU 16 31199219 31199219 single base substitution G C intron_variant MELA-AU 16 31199219 31199219 single base substitution G C upstream_gene_variant MELA-AU 16 31199576 31199576 single base substitution C T downstream_gene_variant MELA-AU 16 31199576 31199576 single base substitution C T exon_variant MELA-AU 16 31199576 31199576 single base substitution C T intron_variant MELA-AU 16 31199576 31199576 single base substitution C T upstream_gene_variant MELA-AU 16 31200212 31200212 single base substitution C T downstream_gene_variant MELA-AU 16 31200212 31200212 single base substitution C T exon_variant MELA-AU 16 31200212 31200212 single base substitution C T intron_variant MELA-AU 16 31200212 31200212 single base substitution C T upstream_gene_variant MELA-AU 16 31200389 31200389 single base substitution C T downstream_gene_variant MELA-AU 16 31200389 31200389 single base substitution C T exon_variant MELA-AU 16 31200389 31200389 single base substitution C T intron_variant MELA-AU 16 31200389 31200389 single base substitution C T upstream_gene_variant MELA-AU 16 31200625 31200625 single base substitution T C downstream_gene_variant MELA-AU 16 31200625 31200625 single base substitution T C intron_variant MELA-AU 16 31200625 31200625 single base substitution T C upstream_gene_variant MELA-AU 16 31200682 31200682 single base substitution G T downstream_gene_variant MELA-AU 16 31200682 31200682 single base substitution G T intron_variant MELA-AU 16 31200682 31200682 single base substitution G T upstream_gene_variant MELA-AU 16 31203262 31203262 single base substitution C T downstream_gene_variant MELA-AU 16 31203606 31203606 single base substitution A G downstream_gene_variant MELA-AU 16 31203854 31203854 single base substitution C T downstream_gene_variant MELA-AU 16 31204251 31204252 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 16 31204354 31204354 single base substitution G A downstream_gene_variant MELA-AU 16 31204482 31204482 single base substitution C T downstream_gene_variant MELA-AU 16 31204700 31204700 single base substitution C T downstream_gene_variant MELA-AU 16 31205121 31205121 single base substitution G A downstream_gene_variant MELA-AU 16 31206653 31206653 insertion of <=200bp - AT downstream_gene_variant MELA-AU 16 31207393 31207393 single base substitution C T downstream_gene_variant MELA-AU 16 31207622 31207622 single base substitution C A downstream_gene_variant ORCA-IN 16 31187347 31187347 single base substitution C G upstream_gene_variant ORCA-IN 16 31202727 31202727 single base substitution C A 3_prime_UTR_variant ORCA-IN 16 31202727 31202727 single base substitution C A downstream_gene_variant ORCA-IN 16 31202727 31202727 single base substitution C A exon_variant ORCA-IN 16 31202727 31202727 single base substitution C A missense_variant H516N 1546C>A ORCA-IN 16 31202727 31202727 single base substitution C A missense_variant H517N 1549C>A ORCA-IN 16 31202727 31202727 single base substitution C A missense_variant H518N 1552C>A OV-AU 16 31188600 31188600 single base substitution T G upstream_gene_variant OV-AU 16 31193173 31193173 single base substitution A C intron_variant OV-AU 16 31193173 31193173 single base substitution A C upstream_gene_variant OV-AU 16 31197910 31197910 single base substitution C A downstream_gene_variant OV-AU 16 31197910 31197910 single base substitution C A exon_variant OV-AU 16 31197910 31197910 single base substitution C A intron_variant OV-AU 16 31197910 31197910 single base substitution C A upstream_gene_variant OV-AU 16 31199850 31199850 single base substitution C G downstream_gene_variant OV-AU 16 31199850 31199850 single base substitution C G exon_variant OV-AU 16 31199850 31199850 single base substitution C G intron_variant OV-AU 16 31199850 31199850 single base substitution C G upstream_gene_variant OV-AU 16 31202713 31202713 single base substitution T A downstream_gene_variant OV-AU 16 31202713 31202713 single base substitution T A intron_variant OV-AU 16 31203823 31203823 single base substitution C G downstream_gene_variant OV-AU 16 31204807 31204807 single base substitution C G downstream_gene_variant OV-AU 16 31207966 31207966 single base substitution G T downstream_gene_variant PACA-AU 16 31194887 31194887 single base substitution A G downstream_gene_variant PACA-AU 16 31194887 31194887 single base substitution A G exon_variant PACA-AU 16 31194887 31194887 single base substitution A G intron_variant PACA-AU 16 31194887 31194887 single base substitution A G upstream_gene_variant PACA-AU 16 31199863 31199863 single base substitution C T downstream_gene_variant PACA-AU 16 31199863 31199863 single base substitution C T exon_variant PACA-AU 16 31199863 31199863 single base substitution C T intron_variant PACA-AU 16 31199863 31199863 single base substitution C T upstream_gene_variant PACA-AU 16 31204101 31204101 single base substitution A C downstream_gene_variant PACA-AU 16 31207006 31207006 single base substitution C T downstream_gene_variant PACA-CA 16 31186873 31186873 single base substitution C T upstream_gene_variant PACA-CA 16 31192084 31192084 single base substitution C A intron_variant PACA-CA 16 31192084 31192084 single base substitution C A upstream_gene_variant PACA-CA 16 31194401 31194401 single base substitution G A exon_variant PACA-CA 16 31194401 31194401 single base substitution G A intron_variant PACA-CA 16 31194401 31194401 single base substitution G A upstream_gene_variant PACA-CA 16 31196267 31196267 single base substitution T C downstream_gene_variant PACA-CA 16 31196267 31196267 single base substitution T C exon_variant PACA-CA 16 31196267 31196267 single base substitution T C synonymous_variant Y176Y 528T>C PACA-CA 16 31196267 31196267 single base substitution T C synonymous_variant Y177Y 531T>C PACA-CA 16 31196267 31196267 single base substitution T C upstream_gene_variant PACA-CA 16 31200688 31200688 single base substitution A C downstream_gene_variant PACA-CA 16 31200688 31200688 single base substitution A C intron_variant PACA-CA 16 31200688 31200688 single base substitution A C upstream_gene_variant PACA-CA 16 31207425 31207425 single base substitution A G downstream_gene_variant PAEN-AU 16 31191415 31191415 single base substitution G C upstream_gene_variant PBCA-DE 16 31189448 31189448 deletion of <=200bp A - upstream_gene_variant PBCA-DE 16 31194487 31194487 single base substitution C A exon_variant PBCA-DE 16 31194487 31194487 single base substitution C A intron_variant PBCA-DE 16 31194487 31194487 single base substitution C A upstream_gene_variant PBCA-DE 16 31200390 31200390 single base substitution C G downstream_gene_variant PBCA-DE 16 31200390 31200390 single base substitution C G exon_variant PBCA-DE 16 31200390 31200390 single base substitution C G intron_variant PBCA-DE 16 31200390 31200390 single base substitution C G upstream_gene_variant PBCA-DE 16 31205036 31205036 single base substitution G T downstream_gene_variant PBCA-DE 16 31207826 31207826 single base substitution A G downstream_gene_variant PRAD-CA 16 31190427 31190427 single base substitution A T upstream_gene_variant PRAD-CA 16 31207381 31207381 single base substitution G T downstream_gene_variant PRAD-UK 16 31189160 31189160 single base substitution C A upstream_gene_variant PRAD-UK 16 31199531 31199531 single base substitution A G downstream_gene_variant PRAD-UK 16 31199531 31199531 single base substitution A G exon_variant PRAD-UK 16 31199531 31199531 single base substitution A G intron_variant PRAD-UK 16 31199531 31199531 single base substitution A G upstream_gene_variant PRAD-UK 16 31201405 31201405 single base substitution C T 3_prime_UTR_variant PRAD-UK 16 31201405 31201405 single base substitution C T downstream_gene_variant PRAD-UK 16 31201405 31201405 single base substitution C T exon_variant PRAD-UK 16 31201405 31201405 single base substitution C T missense_variant R370C 1108C>T PRAD-UK 16 31201405 31201405 single base substitution C T missense_variant R371C 1111C>T PRAD-UK 16 31201405 31201405 single base substitution C T missense_variant R372C 1114C>T PRAD-UK 16 31201405 31201405 single base substitution C T upstream_gene_variant RECA-EU 16 31189693 31189693 single base substitution C A upstream_gene_variant RECA-EU 16 31196027 31196027 single base substitution G C downstream_gene_variant RECA-EU 16 31196027 31196027 single base substitution G C intron_variant RECA-EU 16 31196027 31196027 single base substitution G C upstream_gene_variant RECA-EU 16 31197594 31197594 single base substitution T C downstream_gene_variant RECA-EU 16 31197594 31197594 single base substitution T C exon_variant RECA-EU 16 31197594 31197594 single base substitution T C intron_variant RECA-EU 16 31197594 31197594 single base substitution T C upstream_gene_variant RECA-EU 16 31201962 31201962 single base substitution A G downstream_gene_variant RECA-EU 16 31201962 31201962 single base substitution A G exon_variant RECA-EU 16 31201962 31201962 single base substitution A G intron_variant SKCA-BR 16 31188293 31188294 deletion of <=200bp AT - upstream_gene_variant SKCA-BR 16 31191384 31191384 single base substitution C T upstream_gene_variant SKCA-BR 16 31191649 31191650 deletion of <=200bp AT - intron_variant SKCA-BR 16 31191649 31191650 deletion of <=200bp AT - upstream_gene_variant SKCA-BR 16 31192419 31192419 single base substitution A G intron_variant SKCA-BR 16 31192419 31192419 single base substitution A G upstream_gene_variant SKCA-BR 16 31192604 31192604 single base substitution C T intron_variant SKCA-BR 16 31192604 31192604 single base substitution C T upstream_gene_variant SKCA-BR 16 31194964 31194964 single base substitution T G downstream_gene_variant SKCA-BR 16 31194964 31194964 single base substitution T G exon_variant SKCA-BR 16 31194964 31194964 single base substitution T G intron_variant SKCA-BR 16 31194964 31194964 single base substitution T G upstream_gene_variant SKCA-BR 16 31200659 31200659 single base substitution G T downstream_gene_variant SKCA-BR 16 31200659 31200659 single base substitution G T intron_variant SKCA-BR 16 31200659 31200659 single base substitution G T upstream_gene_variant SKCA-BR 16 31201133 31201133 single base substitution G A downstream_gene_variant SKCA-BR 16 31201133 31201133 single base substitution G A intron_variant SKCA-BR 16 31201133 31201133 single base substitution G A upstream_gene_variant SKCA-BR 16 31202387 31202387 single base substitution T G 3_prime_UTR_variant SKCA-BR 16 31202387 31202387 single base substitution T G downstream_gene_variant SKCA-BR 16 31202387 31202387 single base substitution T G exon_variant SKCA-BR 16 31202387 31202387 single base substitution T G synonymous_variant G498G 1494T>G SKCA-BR 16 31202387 31202387 single base substitution T G synonymous_variant G499G 1497T>G SKCA-BR 16 31202387 31202387 single base substitution T G synonymous_variant G500G 1500T>G SKCA-BR 16 31205124 31205124 insertion of <=200bp - AT downstream_gene_variant SKCA-BR 16 31207559 31207559 single base substitution A T downstream_gene_variant SKCM-US 16 31195177 31195177 single base substitution A T downstream_gene_variant SKCM-US 16 31195177 31195177 single base substitution A T exon_variant SKCM-US 16 31195177 31195177 single base substitution A T splice_acceptor_variant SKCM-US 16 31195177 31195177 single base substitution A T splice_region_variant SKCM-US 16 31195177 31195177 single base substitution A T upstream_gene_variant SKCM-US 16 31195198 31195198 single base substitution A T downstream_gene_variant SKCM-US 16 31195198 31195198 single base substitution A T exon_variant SKCM-US 16 31195198 31195198 single base substitution A T synonymous_variant S69S 207A>T SKCM-US 16 31195198 31195198 single base substitution A T synonymous_variant S70S 210A>T SKCM-US 16 31195198 31195198 single base substitution A T upstream_gene_variant SKCM-US 16 31195273 31195273 single base substitution C T downstream_gene_variant SKCM-US 16 31195273 31195273 single base substitution C T exon_variant SKCM-US 16 31195273 31195273 single base substitution C T synonymous_variant S94S 282C>T SKCM-US 16 31195273 31195273 single base substitution C T synonymous_variant S95S 285C>T SKCM-US 16 31195273 31195273 single base substitution C T upstream_gene_variant SKCM-US 16 31198144 31198144 single base substitution C T downstream_gene_variant SKCM-US 16 31198144 31198144 single base substitution C T exon_variant SKCM-US 16 31198144 31198144 single base substitution C T intron_variant SKCM-US 16 31198144 31198144 single base substitution C T synonymous_variant F261F 783C>T SKCM-US 16 31198144 31198144 single base substitution C T synonymous_variant F262F 786C>T SKCM-US 16 31198144 31198144 single base substitution C T upstream_gene_variant SKCM-US 16 31200457 31200457 single base substitution A G 3_prime_UTR_variant SKCM-US 16 31200457 31200457 single base substitution A G downstream_gene_variant SKCM-US 16 31200457 31200457 single base substitution A G exon_variant SKCM-US 16 31200457 31200457 single base substitution A G synonymous_variant S281S 843A>G SKCM-US 16 31200457 31200457 single base substitution A G synonymous_variant S282S 846A>G SKCM-US 16 31200457 31200457 single base substitution A G synonymous_variant S283S 849A>G SKCM-US 16 31200457 31200457 single base substitution A G upstream_gene_variant SKCM-US 16 31200472 31200472 single base substitution C T 3_prime_UTR_variant SKCM-US 16 31200472 31200472 single base substitution C T downstream_gene_variant SKCM-US 16 31200472 31200472 single base substitution C T exon_variant SKCM-US 16 31200472 31200472 single base substitution C T synonymous_variant I286I 858C>T SKCM-US 16 31200472 31200472 single base substitution C T synonymous_variant I287I 861C>T SKCM-US 16 31200472 31200472 single base substitution C T synonymous_variant I288I 864C>T SKCM-US 16 31200472 31200472 single base substitution C T upstream_gene_variant SKCM-US 16 31201371 31201371 single base substitution C T 3_prime_UTR_variant SKCM-US 16 31201371 31201371 single base substitution C T downstream_gene_variant SKCM-US 16 31201371 31201371 single base substitution C T exon_variant SKCM-US 16 31201371 31201371 single base substitution C T synonymous_variant F358F 1074C>T SKCM-US 16 31201371 31201371 single base substitution C T synonymous_variant F359F 1077C>T SKCM-US 16 31201371 31201371 single base substitution C T synonymous_variant F360F 1080C>T SKCM-US 16 31201371 31201371 single base substitution C T upstream_gene_variant SKCM-US 16 31201606 31201606 single base substitution C T 3_prime_UTR_variant SKCM-US 16 31201606 31201606 single base substitution C T downstream_gene_variant SKCM-US 16 31201606 31201606 single base substitution C T exon_variant SKCM-US 16 31201606 31201606 single base substitution C T synonymous_variant G392G 1176C>T SKCM-US 16 31201606 31201606 single base substitution C T synonymous_variant G393G 1179C>T SKCM-US 16 31201606 31201606 single base substitution C T synonymous_variant G394G 1182C>T SKCM-US 16 31201606 31201606 single base substitution C T upstream_gene_variant SKCM-US 16 31202348 31202348 single base substitution C T 3_prime_UTR_variant SKCM-US 16 31202348 31202348 single base substitution C T downstream_gene_variant SKCM-US 16 31202348 31202348 single base substitution C T exon_variant SKCM-US 16 31202348 31202348 single base substitution C T synonymous_variant G485G 1455C>T SKCM-US 16 31202348 31202348 single base substitution C T synonymous_variant G486G 1458C>T SKCM-US 16 31202348 31202348 single base substitution C T synonymous_variant G487G 1461C>T SKCM-US 16 31202393 31202393 single base substitution G A 3_prime_UTR_variant SKCM-US 16 31202393 31202393 single base substitution G A downstream_gene_variant SKCM-US 16 31202393 31202393 single base substitution G A exon_variant SKCM-US 16 31202393 31202393 single base substitution G A synonymous_variant G500G 1500G>A SKCM-US 16 31202393 31202393 single base substitution G A synonymous_variant G501G 1503G>A SKCM-US 16 31202393 31202393 single base substitution G A synonymous_variant G502G 1506G>A STAD-US 16 31195533 31195533 single base substitution C T downstream_gene_variant STAD-US 16 31195533 31195533 single base substitution C T exon_variant STAD-US 16 31195533 31195533 single base substitution C T synonymous_variant Y112Y 336C>T STAD-US 16 31195533 31195533 single base substitution C T synonymous_variant Y113Y 339C>T STAD-US 16 31195533 31195533 single base substitution C T upstream_gene_variant STAD-US 16 31202336 31202336 single base substitution C T 3_prime_UTR_variant STAD-US 16 31202336 31202336 single base substitution C T downstream_gene_variant STAD-US 16 31202336 31202336 single base substitution C T exon_variant STAD-US 16 31202336 31202336 single base substitution C T synonymous_variant G481G 1443C>T STAD-US 16 31202336 31202336 single base substitution C T synonymous_variant G482G 1446C>T STAD-US 16 31202336 31202336 single base substitution C T synonymous_variant G483G 1449C>T UCEC-US 16 31193542 31193542 single base substitution C T intron_variant UCEC-US 16 31193542 31193542 single base substitution C T upstream_gene_variant UCEC-US 16 31195222 31195222 single base substitution T C downstream_gene_variant UCEC-US 16 31195222 31195222 single base substitution T C exon_variant UCEC-US 16 31195222 31195222 single base substitution T C synonymous_variant T77T 231T>C UCEC-US 16 31195222 31195222 single base substitution T C synonymous_variant T78T 234T>C UCEC-US 16 31195222 31195222 single base substitution T C upstream_gene_variant UCEC-US 16 31195692 31195692 single base substitution T A downstream_gene_variant UCEC-US 16 31195692 31195692 single base substitution T A exon_variant UCEC-US 16 31195692 31195692 single base substitution T A synonymous_variant G165G 495T>A UCEC-US 16 31195692 31195692 single base substitution T A synonymous_variant G166G 498T>A UCEC-US 16 31195692 31195692 single base substitution T A upstream_gene_variant UCEC-US 16 31201374 31201374 single base substitution C A 3_prime_UTR_variant UCEC-US 16 31201374 31201374 single base substitution C A downstream_gene_variant UCEC-US 16 31201374 31201374 single base substitution C A exon_variant UCEC-US 16 31201374 31201374 single base substitution C A synonymous_variant S359S 1077C>A UCEC-US 16 31201374 31201374 single base substitution C A synonymous_variant S360S 1080C>A UCEC-US 16 31201374 31201374 single base substitution C A synonymous_variant S361S 1083C>A UCEC-US 16 31201374 31201374 single base substitution C A upstream_gene_variant UCEC-US 16 31201716 31201716 single base substitution A C 3_prime_UTR_variant UCEC-US 16 31201716 31201716 single base substitution A C downstream_gene_variant UCEC-US 16 31201716 31201716 single base substitution A C exon_variant UCEC-US 16 31201716 31201716 single base substitution A C missense_variant N429T 1286A>C UCEC-US 16 31201716 31201716 single base substitution A C missense_variant N430T 1289A>C UCEC-US 16 31201716 31201716 single base substitution A C missense_variant N431T 1292A>C UCEC-US 16 31202383 31202383 single base substitution G A 3_prime_UTR_variant UCEC-US 16 31202383 31202383 single base substitution G A downstream_gene_variant UCEC-US 16 31202383 31202383 single base substitution G A exon_variant UCEC-US 16 31202383 31202383 single base substitution G A missense_variant R497Q 1490G>A UCEC-US 16 31202383 31202383 single base substitution G A missense_variant R498Q 1493G>A UCEC-US 16 31202383 31202383 single base substitution G A missense_variant R499Q 1496G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand SH-3327 COSM5019850 c.1457G>T p.G486V Substitution - Missense 16:31191026-31191026 + PT19_2 COSM5900325 c.1176G>A p.M392I Substitution - Missense 16:31190282-31190282 + TCGA-BT-A42C-01 COSM4390386 c.273C>A p.Y91* Substitution - Nonsense 16:31183940-31183940 + BN24T COSM1609227 c.681C>T p.G227G Substitution - coding silent 16:31185096-31185096 + TCGA-B5-A11H-01 COSM970152 c.498T>A p.G166G Substitution - coding silent 16:31184371-31184371 + SC_9092 COSM970154 c.684C>T p.G228G Substitution - coding silent 16:31185099-31185099 + AOCS-135-8-X COSM3948500 c.1539-4T>A p.? Unknown 16:31191392-31191392 + S01022 COSM5665779 c.1256G>A p.G419E Substitution - Missense 16:31190362-31190362 + OSCC-GB_00590111 COSM4888574 c.1549C>A p.H517N Substitution - Missense 16:31191406-31191406 + TCGA-BL-A3JM-01 COSM1301917 c.1412A>G p.D471G Substitution - Missense 16:31190981-31190981 + T3118 COSM970154 c.684C>T p.G228G Substitution - coding silent 16:31185099-31185099 + LUAD-D01603 COSM337446 c.1401C>G p.N467K Substitution - Missense 16:31190970-31190970 + TCGA-AA-3663-01 COSM970154 c.684C>T p.G228G Substitution - coding silent 16:31185099-31185099 + EGC15 COSM5054860 c.667_672delGGCGGC p.G230_G231delGG Deletion - In frame 16:31185082-31185087 + T3262 COSM4685873 c.687T>C p.G229G Substitution - coding silent 16:31185102-31185102 + TCGA-BS-A0UV-01 COSM970159 c.1493G>A p.R498Q Substitution - Missense 16:31191062-31191062 + HCC1599 COSM26966 c.934A>C p.K312Q Substitution - Missense 16:31189224-31189224 + 2492702 COSM5715566 c.1019C>T p.S340F Substitution - Missense 16:31189747-31189747 + ESO-708 COSM1252871 c.1013C>T p.T338M Substitution - Missense 16:31189741-31189741 + BN24 COSM1609227 c.681C>T p.G227G Substitution - coding silent 16:31185096-31185096 + TCGA-FS-A4F8-06 COSM3509105 c.846A>G p.S282S Substitution - coding silent 16:31189136-31189136 + T20 COSM5342763 c.1332C>T p.C444C Substitution - coding silent 16:31190781-31190781 + TCGA-DD-A1EF-01 COSM4915601 c.1181G>T p.R394L Substitution - Missense 16:31190287-31190287 + 587342 COSM1207655 c.1292C>T p.P431L Substitution - Missense 16:31190398-31190398 + TCGA-DK-A3IU-01 COSM3794817 c.1100C>A p.S367* Substitution - Nonsense 16:31190073-31190073 + sysucc-1397T COSM5473733 c.1364C>T p.P455L Substitution - Missense 16:31190813-31190813 + TCGA-G3-A25S-01 COSM471667 c.136G>C p.D46H Substitution - Missense 16:31182610-31182610 + HCC128T COSM5824464 c.1180C>T p.R394C Substitution - Missense 16:31190286-31190286 + TCGA-B2-5641-01 COSM471666 c.135G>A p.T45T Substitution - coding silent 16:31182609-31182609 + 0064_CRUK_PC_0064_T1_DNA COSM4421092 c.1111C>T p.R371C Substitution - Missense 16:31190084-31190084 + TCGA-C5-A1ML-01 COSM4837598 c.1217G>T p.G406V Substitution - Missense 16:31190323-31190323 + 2492701 COSM5715566 c.1019C>T p.S340F Substitution - Missense 16:31189747-31189747 + TCGA-A6-6141-01 COSM1377614 c.147C>A p.G49G Substitution - coding silent 16:31182621-31182621 + HCC12T COSM1609228 c.964A>T p.I322F Substitution - Missense 16:31189692-31189692 + TCGA-CG-5721-01 COSM2917758 c.1446C>T p.G482G Substitution - coding silent 16:31191015-31191015 + TCGA-EE-A2MR-06 COSM3509107 c.861C>T p.I287I Substitution - coding silent 16:31189151-31189151 + TCGA-ER-A194-01 COSM3509111 c.1179C>T p.G393G Substitution - coding silent 16:31190285-31190285 + B23-Tumor COSM3932342 c.800-3A>T p.? Unknown 16:31188322-31188322 + PT27 COSM5906021 c.1561C>T p.R521C Substitution - Missense 16:31191418-31191418 + CCK81 COSM2917760 c.1463G>A p.G488D Substitution - Missense 16:31191032-31191032 + TCGA-BR-7851-01 COSM4060408 c.339C>T p.Y113Y Substitution - coding silent 16:31184212-31184212 + PD9592a COSM5795729 c.13G>T p.D5Y Substitution - Missense 16:31180227-31180227 + TCGA-B8-5553-01 COSM3361740 c.1339T>G p.C447G Substitution - Missense 16:31190788-31190788 + TCGA-EE-A2MS-06 COSM3509109 c.1077C>T p.F359F Substitution - coding silent 16:31190050-31190050 + 2492703 COSM5715566 c.1019C>T p.S340F Substitution - Missense 16:31189747-31189747 + T578 COSM4685868 c.592G>T p.D198Y Substitution - Missense 16:31185007-31185007 + COLO320-DM COSM2917736 c.27_29delAGC p.A10delA Deletion - In frame 16:31182411-31182413 + TCGA-D3-A51G-06 COSM3509113 c.1458C>T p.G486G Substitution - coding silent 16:31191027-31191027 + TCGA-D3-A3C7-06 COSM3509115 c.1503G>A p.G501G Substitution - coding silent 16:31191072-31191072 + PDA_100 COSM5003497 c.477C>A p.N159K Substitution - Missense 16:31184350-31184350 + 545 COSM5612834 c.666T>C p.G222G Substitution - coding silent 16:31185081-31185081 + TCGA-AP-A054-01 COSM970150 c.234T>C p.T78T Substitution - coding silent 16:31183901-31183901 + Pat_76_B COSM5384794 c.1441C>T p.R481* Substitution - Nonsense 16:31191010-31191010 + TCGA-B2-5641-01 COSM471667 c.136G>C p.D46H Substitution - Missense 16:31182610-31182610 + YURAY COSM5384794 c.1441C>T p.R481* Substitution - Nonsense 16:31191010-31191010 + CCK81 COSM2917748 c.766G>A p.G256R Substitution - Missense 16:31186803-31186803 + PD3856a COSM161181 c.1157G>A p.R386Q Substitution - Missense 16:31190130-31190130 + CSCC-27-T COSM4506249 c.714C>T p.G238G Substitution - coding silent 16:31185129-31185129 + T3062 COSM137047 c.1129C>T p.R377W Substitution - Missense 16:31190102-31190102 + SJDES014-R1 COSM4578986 c.413G>C p.G138A Substitution - Missense 16:31184286-31184286 + BD135T COSM970154 c.684C>T p.G228G Substitution - coding silent 16:31185099-31185099 + ESCC-129T COSM3937052 c.1405G>A p.G469R Substitution - Missense 16:31190974-31190974 + TCGA-06-0646-01 COSM2151334 c.1418G>A p.R473H Substitution - Missense 16:31190987-31190987 + 2492700 COSM5715566 c.1019C>T p.S340F Substitution - Missense 16:31189747-31189747 + ESCC_BICR_061T COSM5430755 c.1526G>A p.G509D Substitution - Missense 16:31191095-31191095 + YUMILAN COSM5384792 c.707G>A p.S236N Substitution - Missense 16:31185122-31185122 + SC_9029 COSM5555089 c.780T>G p.G260G Substitution - coding silent 16:31186817-31186817 + TCGA-AD-6895-01 COSM970154 c.684C>T p.G228G Substitution - coding silent 16:31185099-31185099 + WA16 COSM239931 c.274G>A p.G92R Substitution - Missense 16:31183941-31183941 + TCGA-EU-5905-01 COSM471668 c.1197T>C p.G399G Substitution - coding silent 16:31190303-31190303 + TCGA-AZ-6598-01 COSM1377616 c.669C>T p.G223G Substitution - coding silent 16:31185084-31185084 + HCC1599 COSM26966 c.934A>C p.K312Q Substitution - Missense 16:31189224-31189224 + TCGA-G4-6628-01 COSM1377615 c.451delC p.P152fs*33 Deletion - Frameshift 16:31184324-31184324 + TCGA-A8-A09Z-01 COSM2917737 c.165_167delTTC p.S57delS Deletion - In frame 16:31182639-31182641 + AOCS-135-3-1 COSM3948500 c.1539-4T>A p.? Unknown 16:31191392-31191392 + TP_2020 COSM5555660 c.1545T>G p.G515G Substitution - coding silent 16:31191402-31191402 + HCC078T COSM5806193 c.937A>G p.T313A Substitution - Missense 16:31189665-31189665 + T3090 COSM970154 c.684C>T p.G228G Substitution - coding silent 16:31185099-31185099 + TCGA-B8-5162-01 COSM1493624 c.640G>A p.G214R Substitution - Missense 16:31185055-31185055 + A549 COSM1193317 c.1148G>A p.R383H Substitution - Missense 16:31190121-31190121 + 9583_CLM COSM5754844 c.205C>G p.Q69E Substitution - Missense 16:31183872-31183872 + T3202 COSM4685866 c.523+1G>T p.? Unknown 16:31184397-31184397 + YUMOBER COSM5384790 c.645C>T p.G215G Substitution - coding silent 16:31185060-31185060 + TCGA-D3-A5GO-06 COSM3888438 c.786C>T p.F262F Substitution - coding silent 16:31186823-31186823 + T2940 COSM4685876 c.1486delG p.G497fs*>30 Deletion - Frameshift 16:31191055-31191055 + SH-7032 COSM5020562 c.499_504delGGTGGA p.G174_G175delGG Deletion - In frame 16:31184372-31184377 + TCGA-E2-A1LS-01 COSM1478834 c.259T>A p.S87T Substitution - Missense 16:31183926-31183926 + MCF7 COSM1683215 c.1503_1505delGGA p.D502delD Deletion - In frame 16:31191072-31191074 + SC_9099 COSM1377616 c.669C>T p.G223G Substitution - coding silent 16:31185084-31185084 + 526LT COSM4386429 c.1516T>G p.F506V Substitution - Missense 16:31191085-31191085 + 12-P279 COSM4578988 c.1163G>A p.R388Q Substitution - Missense 16:31190136-31190136 + CSCC-44-T COSM4467099 c.1470C>T p.D490D Substitution - coding silent 16:31191039-31191039 + TCGA-EE-A29H-06 COSM3509102 c.210A>T p.S70S Substitution - coding silent 16:31183877-31183877 + TCGA-BS-A0UV-01 COSM970155 c.1080C>A p.S360S Substitution - coding silent 16:31190053-31190053 + TCGA-CK-4948-01 COSM1377613 c.67C>T p.Q23* Substitution - Nonsense 16:31182541-31182541 + CSCC-44-T COSM4458485 c.1087C>T p.P363S Substitution - Missense 16:31190060-31190060 + BK0035 COSM4187079 c.1136G>C p.G379A Substitution - Missense 16:31190109-31190109 + Hs-578-T COSM1683215 c.1503_1505delGGA p.D502delD Deletion - In frame 16:31191072-31191074 + I2L-P19Ta-Tumor-Organoid COSM4685873 c.687T>C p.G229G Substitution - coding silent 16:31185102-31185102 + sysucc-1317T COSM5448858 c.1248C>T p.G416G Substitution - coding silent 16:31190354-31190354 + TCGA-B5-A11E-01 COSM970158 c.1289A>C p.N430T Substitution - Missense 16:31190395-31190395 + TCGA-D1-A101-01 COSM970153 c.630G>T p.Q210H Substitution - Missense 16:31185045-31185045 + PTC-14C COSM4129019 c.1566G>T p.R522S Substitution - Missense 16:31191423-31191423 + ML_89_T_01 COSM5037865 c.1497T>G p.G499G Substitution - coding silent 16:31191066-31191066 + ccRCC-82 COSM1661920 c.1438G>A p.D480N Substitution - Missense 16:31191007-31191007 + 61 COSM1252871 c.1013C>T p.T338M Substitution - Missense 16:31189741-31189741 + TCGA-BS-A0TE-01 COSM970151 c.323G>A p.S108N Substitution - Missense 16:31183990-31183990 + TCGA-A5-A0G9-01 COSM970156 c.1249G>A p.G417S Substitution - Missense 16:31190355-31190355 + T4 COSM5619318 c.291C>T p.Y97Y Substitution - coding silent 16:31183958-31183958 + TCGA-D3-A2JF-06 COSM3509100 c.191-2A>T p.? Unknown 16:31183856-31183856 + TCGA-B8-5553-01 COSM3361744 c.1342A>T p.K448* Substitution - Nonsense 16:31190791-31190791 + cSCCP6 COSM137047 c.1129C>T p.R377W Substitution - Missense 16:31190102-31190102 + LP6005500-DNA_C01 COSM5952275 c.1316C>G p.S439C Substitution - Missense 16:31190765-31190765 + TCGA-A8-A08O-01 COSM435164 c.1530G>C p.K510N Substitution - Missense 16:31191099-31191099 + PTC-7C COSM1377614 c.147C>A p.G49G Substitution - coding silent 16:31182621-31182621 + PCSI_0020_Pa_X COSM3377881 c.531T>C p.Y177Y Substitution - coding silent 16:31184946-31184946 + sysucc-1317T COSM5448856 c.1245T>C p.G415G Substitution - coding silent 16:31190351-31190351 + PR-00-1165 COSM244622 c.1462G>A p.G488S Substitution - Missense 16:31191031-31191031 + Pat_76_A COSM5384794 c.1441C>T p.R481* Substitution - Nonsense 16:31191010-31191010 + TCGA-EE-A29N-06 COSM2917742 c.285C>T p.S95S Substitution - coding silent 16:31183952-31183952 + 46M COSM5587850 c.958C>T p.P320S Substitution - Missense 16:31189686-31189686 + HCC12 COSM1609228 c.964A>T p.I322F Substitution - Missense 16:31189692-31189692 + DM16 COSM5608922 c.510A>T p.G170G Substitution - coding silent 16:31184383-31184383 + J30_T COSM3957493 c.419A>C p.Q140P Substitution - Missense 16:31184292-31184292 + SJHGG010_D COSM4969089 c.820C>T p.R274C Substitution - Missense 16:31188345-31188345 + WA16 COSM237424 c.237C>T p.G79G Substitution - coding silent 16:31183904-31183904 + LUAD-S01331 COSM396431 c.776G>T p.R259L Substitution - Missense 16:31186813-31186813 + TCGA-D5-6928-01 COSM970154 c.684C>T p.G228G Substitution - coding silent 16:31185099-31185099 + TCGA-06-0646 COSM2151334 c.1418G>A p.R473H Substitution - Missense 16:31190987-31190987 + TCGA-51-4080-01 COSM703183 c.611G>T p.G204V Substitution - Missense 16:31185026-31185026 + T3262 COSM4685870 c.637C>T p.R213C Substitution - Missense 16:31185052-31185052 + CHLA-258 COSM4578984 c.66G>A p.G22G Substitution - coding silent 16:31182540-31182540 + TCGA-B8-5553-01 COSM3361742 c.1340G>T p.C447F Substitution - Missense 16:31190789-31190789 + TCGA-AM-5821-01 COSM1377614 c.147C>A p.G49G Substitution - coding silent 16:31182621-31182621 + LUAD-D01603 COSM337447 c.1542G>T p.R514S Substitution - Missense 16:31191399-31191399 + KYSE-150 COSM2917743 c.317C>T p.P106L Substitution - Missense 16:31183984-31183984 + MEL-JWCI-WGS-8 COSM1167644 c.684delC p.G229fs*93 Deletion - Frameshift 16:31185099-31185099 + SW837 COSM2917756 c.1348C>T p.P450S Substitution - Missense 16:31190797-31190797 + 060-0123-01TD COSM5419206 c.840T>A p.D280E Substitution - Missense 16:31189130-31189130 + T155 COSM1177057 c.910T>C p.Y304H Substitution - Missense 16:31189200-31189200 + TCGA-BG-A0MT-01 COSM970154 c.684C>T p.G228G Substitution - coding silent 16:31185099-31185099 + TCGA-BT-A0YX-01 COSM417032 c.457C>T p.Q153* Substitution - Nonsense 16:31184330-31184330 + TCGA-D1-A17M-01 COSM970157 c.1264C>A p.R422R Substitution - coding silent 16:31190370-31190370 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.46894 16p11.2 137070 2470679|CGAP|BC000402|A/G|coding|Arg503Lys|1575|Candidate; 2470679|CGAP|BC002459|A/G|coding|Arg503Lys|1547|Candidate; 2470679|CGAP|BC026062|A/G|coding|Arg503Lys|1565|Candidate; 2470694|CGAP|BC000402|A/C|coding|Gly49Gly|214|Validated; 2470694|CGAP|BC002459|A/C|coding|Gly49Gly|186|Validated; 2470694|CGAP|BC026062|A/C|coding|Gly49Gly|204|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer ACA - InFrameDeletion p.N285delN c.854_856delACA 16 31200459 LGG A C Missense p.K312Q c.934A>C 16 31200545 BRCA A G Missense p.D471G c.1412A>G 16 31202302 BLCA A T IntronicSNV . c.799+474A>T 16 31198631 HC A T Nonsense p.K448* c.1342A>T 16 31202112 RCCC A T Synonymous p.S70S c.210A>T 16 31195198 CM C A IntronicSNV . c.190+502C>A 16 31194487 MB C A Nonsense p.S367* c.1100C>A 16 31201394 BLCA C - Frameshift p.P450Lfs*79 c.1349delC 16 31202116 RCCC C G IntronicSNV . c.833-54C>G 16 31200390 MB C T IntronicSNV . c.1293-143C>T 16 31201920 CM C T IntronicSNV . c.799+19C>T 16 31198176 CM C T Missense p.T338M c.1013C>T 16 31201062 ESCA C T Nonsense p.Q153* c.457C>T 16 31195651 BLCA C T Nonsense p.Q62* c.184C>T 16 31193979 HNSC C T Synonymous p.F359F c.1077C>T 16 31201371 CM C T Synonymous p.G393G c.1179C>T 16 31201606 CM C T Synonymous p.G65G c.195C>T 16 31195183 CM C T Synonymous p.S95S c.285C>T 16 31195273 CM G A Missense p.R386Q c.1157G>A 16 31201451 BRCA G A Missense p.R473H c.1418G>A 16 31202308 GBM G A Synonymous p.G501G c.1503G>A 16 31202393 CM G A Synonymous p.T45T c.135G>A 16 31193930 RCCC G C Missense p.D46H c.136G>C 16 31193931 RCCC G C Missense p.K510N c.1530G>C 16 31202420 BRCA G T IntronicSNV . c.832+222G>T 16 31199900 HC G T Missense p.C447F c.1340G>T 16 31202110 RCCC G T Missense p.G204V c.611G>T 16 31196347 LUSC G T SpliceAcceptorSNV . c.1542-1G>T 16 31202719 LUAD G T Synonymous p.T317T c.951G>T 16 31201000 LUAD TACT - IntronicDeletion . c.1542-26_1542-23delCTTA 16 31202692 ESCA T A Missense p.S87T c.259T>A 16 31195247 BRCA T A Synonymous p.G166G c.498T>A 16 31195692 UCEC T C Synonymous p.G399G c.1197T>C 16 31201624 RCCC T C Synonymous p.T78T c.234T>C 16 31195222 UCEC T G Missense p.C447G c.1339T>G 16 31202109 RCCC