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 22 38010268 38010268 + Missense_Mutation SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 g.chr22:38010268G>A c.115G>A c.(115-117)Gag>Aag p.E39K BLCA 22 38014472 38014472 + Missense_Mutation SNP G G C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 g.chr22:38014472G>C c.222G>C c.(220-222)atG>atC p.M74I BLCA 22 38016283 38016283 + Missense_Mutation SNP G G C TCGA-SY-A9G5-01A-11D-A38G-08 TCGA-SY-A9G5-10A-01D-A38J-08 g.chr22:38016283G>C c.342G>C c.(340-342)aaG>aaC p.K114N BLCA 22 38021890 38021890 + Missense_Mutation SNP G G A TCGA-BT-A20R-01A-12D-A16O-08 TCGA-BT-A20R-11A-11D-A16O-08 g.chr22:38021890G>A c.1027G>A c.(1027-1029)Gag>Aag p.E343K BRCA 22 38013003 38013003 + Splice_Site SNP C C T TCGA-C8-A26X-01A-31D-A16D-09 TCGA-C8-A26X-10A-01D-A16D-09 g.chr22:38013003C>T c.203C>T c.(202-204)aCg>aTg p.T68M BRCA 22 38016265 38016265 + Silent SNP G G A TCGA-E2-A1LH-01A-11D-A14G-09 TCGA-E2-A1LH-11A-22D-A14G-09 g.chr22:38016265G>A c.324G>A c.(322-324)tcG>tcA p.S108S BRCA 22 38017668 38017668 + Missense_Mutation SNP G G A TCGA-D8-A1XQ-01A-11D-A14K-09 TCGA-D8-A1XQ-10A-01D-A14K-09 g.chr22:38017668G>A c.574G>A c.(574-576)Gca>Aca p.A192T BRCA 22 38026927 38026927 + Frame_Shift_Del DEL C C - TCGA-A8-A09Z-01A-11W-A019-09 TCGA-A8-A09Z-10A-01W-A021-09 g.chr22:38026927delC c.1349delC c.(1348-1350)accfs p.T450fs BRCA 22 38028008 38028008 + Missense_Mutation SNP A A G TCGA-D8-A1XQ-01A-11D-A14K-09 TCGA-D8-A1XQ-10A-01D-A14K-09 g.chr22:38028008A>G c.1534A>G c.(1534-1536)Atc>Gtc p.I512V BRCA 22 38028688 38028688 + Frame_Shift_Del DEL C C - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 g.chr22:38028688delC c.1890delC c.(1888-1890)ttcfs p.F630fs CESC 22 38019460 38019460 + Nonsense_Mutation SNP G G T TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 g.chr22:38019460G>T c.736G>T c.(736-738)Gag>Tag p.E246* CESC 22 38021921 38021921 + Missense_Mutation SNP C C T TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 g.chr22:38021921C>T c.1058C>T c.(1057-1059)tCa>tTa p.S353L COAD 22 38014500 38014500 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr22:38014500G>A c.250G>A c.(250-252)Gaa>Aaa p.E84K COAD 22 38016296 38016296 + Missense_Mutation SNP C C T TCGA-D5-5539-01A-01D-1650-10 TCGA-D5-5539-10A-01D-1650-10 g.chr22:38016296C>T c.355C>T c.(355-357)Ctc>Ttc p.L119F COAD 22 38016894 38016894 + Missense_Mutation SNP A A C TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr22:38016894A>C c.502A>C c.(502-504)Atc>Ctc p.I168L COAD 22 38019439 38019439 + Missense_Mutation SNP G G A TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr22:38019439G>A c.715G>A c.(715-717)Ggc>Agc p.G239S COAD 22 38019439 38019439 + Missense_Mutation SNP G G A TCGA-CM-6170-01A-11D-1650-10 TCGA-CM-6170-10A-01D-1650-10 g.chr22:38019439G>A c.715G>A c.(715-717)Ggc>Agc p.G239S COAD 22 38021882 38021882 + Missense_Mutation SNP G G A TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr22:38021882G>A c.1019G>A c.(1018-1020)cGc>cAc p.R340H COAD 22 38026100 38026100 + Silent SNP C C T TCGA-AA-3818-01A-01W-0900-09 TCGA-AA-3818-10A-01W-0900-09 g.chr22:38026100C>T c.1254C>T c.(1252-1254)agC>agT p.S418S COAD 22 38027008 38027008 + Missense_Mutation SNP A A G TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr22:38027008A>G c.1430A>G c.(1429-1431)cAc>cGc p.H477R COADREAD 22 38014500 38014500 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr22:38014500G>A c.250G>A c.(250-252)Gaa>Aaa p.E84K COADREAD 22 38016296 38016296 + Missense_Mutation SNP C C T TCGA-D5-5539-01A-01D-1650-10 TCGA-D5-5539-10A-01D-1650-10 g.chr22:38016296C>T c.355C>T c.(355-357)Ctc>Ttc p.L119F COADREAD 22 38016894 38016894 + Missense_Mutation SNP A A C TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr22:38016894A>C c.502A>C c.(502-504)Atc>Ctc p.I168L COADREAD 22 38019439 38019439 + Missense_Mutation SNP G G A TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chr22:38019439G>A c.715G>A c.(715-717)Ggc>Agc p.G239S COADREAD 22 38019439 38019439 + Missense_Mutation SNP G G A TCGA-CM-6170-01A-11D-1650-10 TCGA-CM-6170-10A-01D-1650-10 g.chr22:38019439G>A c.715G>A c.(715-717)Ggc>Agc p.G239S COADREAD 22 38021882 38021882 + Missense_Mutation SNP G G A TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr22:38021882G>A c.1019G>A c.(1018-1020)cGc>cAc p.R340H COADREAD 22 38026100 38026100 + Silent SNP C C T TCGA-AA-3818-01A-01W-0900-09 TCGA-AA-3818-10A-01W-0900-09 g.chr22:38026100C>T c.1254C>T c.(1252-1254)agC>agT p.S418S COADREAD 22 38027008 38027008 + Missense_Mutation SNP A A G TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr22:38027008A>G c.1430A>G c.(1429-1431)cAc>cGc p.H477R ESCA 22 38014499 38014499 + Silent SNP C C T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 g.chr22:38014499C>T c.249C>T c.(247-249)gaC>gaT p.D83D ESCA 22 38019411 38019411 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr22:38019411G>A c.687G>A c.(685-687)acG>acA p.T229T ESCA 22 38020994 38020994 + Missense_Mutation SNP A A G TCGA-VR-A8EX-01A-11D-A36J-09 TCGA-VR-A8EX-10A-01D-A36M-09 g.chr22:38020994A>G c.851A>G c.(850-852)aAt>aGt p.N284S GBM 22 38016358 38016366 + In_Frame_Del DEL AAAGAAGCA AAAGAAGCA - TCGA-28-5204-01A-01D-1486-08 TCGA-28-5204-10A-01D-1486-08 g.chr22:38016358_38016366delAAAGAAGCA c.417_425delAAAGAAGCA c.(415-426)ctaaagaagcag>ctg p.KKQ140del GBM 22 38016850 38016850 + Missense_Mutation SNP A A G TCGA-06-0128-01A-01D-1490-08 TCGA-06-0128-10A-01D-1490-08 g.chr22:38016850A>G c.458A>G c.(457-459)gAt>gGt p.D153G GBMLGG 22 38013019 38013019 + Intron SNP G G A TCGA-QH-A65S-01A-11D-A29Q-08 TCGA-QH-A65S-10A-01D-A29Q-08 g.chr22:38013019G>A GBMLGG 22 38014515 38014515 + Missense_Mutation SNP C C T TCGA-FG-7634-01A-11D-2086-08 TCGA-FG-7634-10A-01D-2086-08 g.chr22:38014515C>T c.265C>T c.(265-267)Cgc>Tgc p.R89C GBMLGG 22 38016358 38016366 + In_Frame_Del DEL AAAGAAGCA AAAGAAGCA - TCGA-28-5204-01A-01D-1486-08 TCGA-28-5204-10A-01D-1486-08 g.chr22:38016358_38016366delAAAGAAGCA c.417_425delAAAGAAGCA c.(415-426)ctaaagaagcag>ctg p.KKQ140del GBMLGG 22 38016850 38016850 + Missense_Mutation SNP A A G TCGA-06-0128-01A-01D-1490-08 TCGA-06-0128-10A-01D-1490-08 g.chr22:38016850A>G c.458A>G c.(457-459)gAt>gGt p.D153G HNSC 22 38012933 38012933 + Missense_Mutation SNP C C G TCGA-BA-A6DJ-01A-11D-A30E-08 TCGA-BA-A6DJ-10A-01D-A30H-08 g.chr22:38012933C>G c.133C>G c.(133-135)Cca>Gca p.P45A HNSC 22 38016247 38016247 + Silent SNP T T C TCGA-CV-5978-01A-11D-1683-08 TCGA-CV-5978-11A-01D-1683-08 g.chr22:38016247T>C c.306T>C c.(304-306)taT>taC p.Y102Y HNSC 22 38016337 38016337 + Missense_Mutation SNP C C G TCGA-CQ-6221-01A-11D-2078-08 TCGA-CQ-6221-10A-01D-2078-08 g.chr22:38016337C>G c.396C>G c.(394-396)atC>atG p.I132M HNSC 22 38019382 38019382 + Missense_Mutation SNP G G A TCGA-CV-A45Z-01A-21D-A25D-08 TCGA-CV-A45Z-10A-01D-A25E-08 g.chr22:38019382G>A c.658G>A c.(658-660)Gag>Aag p.E220K HNSC 22 38026098 38026098 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr22:38026098A>G c.1252A>G c.(1252-1254)Agc>Ggc p.S418G HNSC 22 38027078 38027078 + Missense_Mutation SNP C C G TCGA-P3-A6T3-01A-11D-A34J-08 TCGA-P3-A6T3-10A-01D-A34M-08 g.chr22:38027078C>G c.1500C>G c.(1498-1500)atC>atG p.I500M HNSC 22 38028118 38028118 + Silent SNP G G A TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 g.chr22:38028118G>A c.1644G>A c.(1642-1644)ctG>ctA p.L548L LGG 22 38013019 38013019 + Intron SNP G G A TCGA-QH-A65S-01A-11D-A29Q-08 TCGA-QH-A65S-10A-01D-A29Q-08 g.chr22:38013019G>A LGG 22 38014515 38014515 + Missense_Mutation SNP C C T TCGA-FG-7634-01A-11D-2086-08 TCGA-FG-7634-10A-01D-2086-08 g.chr22:38014515C>T c.265C>T c.(265-267)Cgc>Tgc p.R89C LIHC 22 38012994 38012994 + Missense_Mutation SNP A A T TCGA-LG-A9QD-01A-11D-A382-10 TCGA-LG-A9QD-10A-01D-A385-10 g.chr22:38012994A>T c.194A>T c.(193-195)cAg>cTg p.Q65L LIHC 22 38016853 38016853 + Missense_Mutation SNP A A G TCGA-4R-AA8I-01A-11D-A382-10 TCGA-4R-AA8I-10B-01D-A385-10 g.chr22:38016853A>G c.461A>G c.(460-462)gAc>gGc p.D154G LUAD 22 38016323 38016323 + Missense_Mutation SNP G G A TCGA-MN-A4N4-01A-12D-A24P-08 TCGA-MN-A4N4-10A-01D-A24P-08 g.chr22:38016323G>A c.382G>A c.(382-384)Gag>Aag p.E128K LUAD 22 38026076 38026076 + Silent SNP G G T TCGA-49-6743-01A-11D-1855-08 TCGA-49-6743-11A-01D-1855-08 g.chr22:38026076G>T c.1230G>T c.(1228-1230)gcG>gcT p.A410A LUAD 22 38026925 38026925 + Silent SNP A A T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 g.chr22:38026925A>T c.1347A>T c.(1345-1347)ccA>ccT p.P449P OV 22 38020994 38020994 + Missense_Mutation SNP A A G TCGA-04-1649-01A-01W-0639-09 TCGA-04-1649-11A-01W-0639-09 g.chr22:38020994A>G c.851A>G c.(850-852)aAt>aGt p.N284S OV 22 38021949 38021949 + Missense_Mutation SNP G G A TCGA-04-1367-01A-01W-0492-08 TCGA-04-1367-10A-01W-0492-08 g.chr22:38021949G>A c.1086G>A c.(1084-1086)atG>atA p.M362I PAAD 22 38019351 38019351 + Missense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr22:38019351G>T c.627G>T c.(625-627)gaG>gaT p.E209D PRAD 22 38028044 38028044 + Missense_Mutation SNP C C T TCGA-J9-A52C-01A-11D-A26M-08 TCGA-J9-A52C-10A-01D-A26K-08 g.chr22:38028044C>T c.1570C>T c.(1570-1572)Cgc>Tgc p.R524C PRAD 22 38028487 38028487 + Missense_Mutation SNP A A G TCGA-HC-A632-01A-11D-A29Q-08 TCGA-HC-A632-10A-01D-A29Q-08 g.chr22:38028487A>G c.1774A>G c.(1774-1776)Atc>Gtc p.I592V SKCM 22 38010228 38010228 + Silent SNP C C T TCGA-D3-A2JA-06A-11D-A196-08 TCGA-D3-A2JA-10A-01D-A198-08 g.chr22:38010228C>T c.75C>T c.(73-75)ctC>ctT p.L25L SKCM 22 38016337 38016337 + Silent SNP C C T TCGA-RP-A694-06A-11D-A30X-08 TCGA-RP-A694-10A-01D-A30X-08 g.chr22:38016337C>T c.396C>T c.(394-396)atC>atT p.I132I SKCM 22 38021006 38021006 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 g.chr22:38021006C>T c.863C>T c.(862-864)aCc>aTc p.T288I SKCM 22 38021897 38021897 + Missense_Mutation SNP C C G TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 g.chr22:38021897C>G c.1034C>G c.(1033-1035)gCc>gGc p.A345G SKCM 22 38028015 38028015 + Missense_Mutation SNP C C T TCGA-D3-A51J-06A-11D-A25O-08 TCGA-D3-A51J-10A-01D-A25O-08 g.chr22:38028015C>T c.1541C>T c.(1540-1542)cCc>cTc p.P514L SKCM 22 38028043 38028043 + Silent SNP C C T TCGA-EE-A3J5-06A-11D-A20D-08 TCGA-EE-A3J5-10A-01D-A20D-08 g.chr22:38028043C>T c.1569C>T c.(1567-1569)ttC>ttT p.F523F SKCM 22 38028055 38028055 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 g.chr22:38028055C>T c.1581C>T c.(1579-1581)ttC>ttT p.F527F SKCM 22 38028516 38028516 + Silent SNP C C T TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr22:38028516C>T c.1803C>T c.(1801-1803)ccC>ccT p.P601P

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 22 38016884 38016884 single base substitution G A downstream_gene_variant BLCA-CN 22 38016884 38016884 single base substitution G A exon_variant BLCA-CN 22 38016884 38016884 single base substitution G A synonymous_variant P131P 393G>A BLCA-CN 22 38016884 38016884 single base substitution G A synonymous_variant P156P 468G>A BLCA-CN 22 38016884 38016884 single base substitution G A synonymous_variant P164P 492G>A BLCA-CN 22 38016884 38016884 single base substitution G A synonymous_variant P181P 543G>A BLCA-CN 22 38016884 38016884 single base substitution G A synonymous_variant P91P 273G>A BLCA-CN 22 38016884 38016884 single base substitution G A upstream_gene_variant BLCA-CN 22 38027070 38027070 single base substitution G A downstream_gene_variant BLCA-CN 22 38027070 38027070 single base substitution G A exon_variant BLCA-CN 22 38027070 38027070 single base substitution G A missense_variant A411T 1231G>A BLCA-CN 22 38027070 38027070 single base substitution G A missense_variant A425T 1273G>A BLCA-CN 22 38027070 38027070 single base substitution G A missense_variant A465T 1393G>A BLCA-CN 22 38027070 38027070 single base substitution G A missense_variant A498T 1492G>A BLCA-CN 22 38027070 38027070 single base substitution G A missense_variant A515T 1543G>A BLCA-US 22 38010268 38010268 single base substitution G A 5_prime_UTR_variant BLCA-US 22 38010268 38010268 single base substitution G A downstream_gene_variant BLCA-US 22 38010268 38010268 single base substitution G A exon_variant BLCA-US 22 38010268 38010268 single base substitution G A missense_variant E31K 91G>A BLCA-US 22 38010268 38010268 single base substitution G A missense_variant E39K 115G>A BLCA-US 22 38010268 38010268 single base substitution G A upstream_gene_variant BLCA-US 22 38014472 38014472 single base substitution G C downstream_gene_variant BLCA-US 22 38014472 38014472 single base substitution G C exon_variant BLCA-US 22 38014472 38014472 single base substitution G C intron_variant BLCA-US 22 38014472 38014472 single base substitution G C missense_variant M66I 198G>C BLCA-US 22 38014472 38014472 single base substitution G C missense_variant M74I 222G>C BLCA-US 22 38014472 38014472 single base substitution G C missense_variant M91I 273G>C BLCA-US 22 38014472 38014472 single base substitution G C start_lost M1I 3G>C BLCA-US 22 38014472 38014472 single base substitution G C upstream_gene_variant BLCA-US 22 38021890 38021890 single base substitution G A downstream_gene_variant BLCA-US 22 38021890 38021890 single base substitution G A exon_variant BLCA-US 22 38021890 38021890 single base substitution G A intron_variant BLCA-US 22 38021890 38021890 single base substitution G A missense_variant E270K 808G>A BLCA-US 22 38021890 38021890 single base substitution G A missense_variant E310K 928G>A BLCA-US 22 38021890 38021890 single base substitution G A missense_variant E343K 1027G>A BLCA-US 22 38021890 38021890 single base substitution G A missense_variant E360K 1078G>A BLCA-US 22 38021890 38021890 single base substitution G A upstream_gene_variant BOCA-FR 22 38014389 38014389 single base substitution C T downstream_gene_variant BOCA-FR 22 38014389 38014389 single base substitution C T intron_variant BOCA-FR 22 38014389 38014389 single base substitution C T upstream_gene_variant BRCA-EU 22 37999626 37999626 single base substitution C G upstream_gene_variant BRCA-EU 22 37999841 37999841 single base substitution A G upstream_gene_variant BRCA-EU 22 38000093 38000093 single base substitution C T upstream_gene_variant BRCA-EU 22 38000104 38000104 single base substitution C T upstream_gene_variant BRCA-EU 22 38000790 38000790 single base substitution C T upstream_gene_variant BRCA-EU 22 38001413 38001413 single base substitution G A upstream_gene_variant BRCA-EU 22 38002941 38002941 single base substitution G T upstream_gene_variant BRCA-EU 22 38003111 38003111 single base substitution G A upstream_gene_variant BRCA-EU 22 38003499 38003499 single base substitution A G upstream_gene_variant BRCA-EU 22 38003869 38003869 single base substitution G A upstream_gene_variant BRCA-EU 22 38007331 38007331 single base substitution G C intron_variant BRCA-EU 22 38007331 38007331 single base substitution G C upstream_gene_variant BRCA-EU 22 38009745 38009745 single base substitution C T intron_variant BRCA-EU 22 38009745 38009745 single base substitution C T upstream_gene_variant BRCA-EU 22 38012230 38012230 single base substitution G A downstream_gene_variant BRCA-EU 22 38012230 38012230 single base substitution G A intron_variant BRCA-EU 22 38012230 38012230 single base substitution G A upstream_gene_variant BRCA-EU 22 38014725 38014725 single base substitution C G downstream_gene_variant BRCA-EU 22 38014725 38014725 single base substitution C G intron_variant BRCA-EU 22 38014725 38014725 single base substitution C G upstream_gene_variant BRCA-EU 22 38015033 38015033 single base substitution G A downstream_gene_variant BRCA-EU 22 38015033 38015033 single base substitution G A intron_variant BRCA-EU 22 38015033 38015033 single base substitution G A upstream_gene_variant BRCA-EU 22 38016222 38016222 single base substitution G T downstream_gene_variant BRCA-EU 22 38016222 38016222 single base substitution G T exon_variant BRCA-EU 22 38016222 38016222 single base substitution G T intron_variant BRCA-EU 22 38016222 38016222 single base substitution G T upstream_gene_variant BRCA-EU 22 38016908 38016908 single base substitution G C downstream_gene_variant BRCA-EU 22 38016908 38016908 single base substitution G C exon_variant BRCA-EU 22 38016908 38016908 single base substitution G C missense_variant E139D 417G>C BRCA-EU 22 38016908 38016908 single base substitution G C missense_variant E164D 492G>C BRCA-EU 22 38016908 38016908 single base substitution G C missense_variant E172D 516G>C BRCA-EU 22 38016908 38016908 single base substitution G C missense_variant E189D 567G>C BRCA-EU 22 38016908 38016908 single base substitution G C missense_variant E99D 297G>C BRCA-EU 22 38016908 38016908 single base substitution G C upstream_gene_variant BRCA-EU 22 38017456 38017456 single base substitution C T downstream_gene_variant BRCA-EU 22 38017456 38017456 single base substitution C T intron_variant BRCA-EU 22 38017456 38017456 single base substitution C T upstream_gene_variant BRCA-EU 22 38021207 38021207 single base substitution A G downstream_gene_variant BRCA-EU 22 38021207 38021207 single base substitution A G intron_variant BRCA-EU 22 38021207 38021207 single base substitution A G upstream_gene_variant BRCA-EU 22 38021316 38021316 single base substitution G A downstream_gene_variant BRCA-EU 22 38021316 38021316 single base substitution G A intron_variant BRCA-EU 22 38021316 38021316 single base substitution G A upstream_gene_variant BRCA-EU 22 38024428 38024428 single base substitution G C downstream_gene_variant BRCA-EU 22 38024428 38024428 single base substitution G C intron_variant BRCA-EU 22 38024428 38024428 single base substitution G C upstream_gene_variant BRCA-EU 22 38025068 38025068 single base substitution C A downstream_gene_variant BRCA-EU 22 38025068 38025068 single base substitution C A intron_variant BRCA-EU 22 38025068 38025068 single base substitution C A upstream_gene_variant BRCA-EU 22 38026569 38026569 single base substitution A G downstream_gene_variant BRCA-EU 22 38026569 38026569 single base substitution A G intron_variant BRCA-EU 22 38026569 38026569 single base substitution A G upstream_gene_variant BRCA-EU 22 38027710 38027710 single base substitution C T downstream_gene_variant BRCA-EU 22 38027710 38027710 single base substitution C T intron_variant BRCA-EU 22 38029114 38029114 single base substitution G A 3_prime_UTR_variant BRCA-EU 22 38029114 38029114 single base substitution G A downstream_gene_variant BRCA-EU 22 38031340 38031340 single base substitution C T downstream_gene_variant BRCA-EU 22 38031631 38031631 single base substitution T A downstream_gene_variant BRCA-EU 22 38032723 38032723 single base substitution C T downstream_gene_variant BRCA-FR 22 38000093 38000093 single base substitution C T upstream_gene_variant BRCA-FR 22 38000104 38000104 single base substitution C T upstream_gene_variant BRCA-FR 22 38000790 38000790 single base substitution C T upstream_gene_variant BRCA-FR 22 38021316 38021316 single base substitution G A downstream_gene_variant BRCA-FR 22 38021316 38021316 single base substitution G A intron_variant BRCA-FR 22 38021316 38021316 single base substitution G A upstream_gene_variant BRCA-FR 22 38026569 38026569 single base substitution A G downstream_gene_variant BRCA-FR 22 38026569 38026569 single base substitution A G intron_variant BRCA-FR 22 38026569 38026569 single base substitution A G upstream_gene_variant BRCA-FR 22 38028624 38028624 single base substitution G A downstream_gene_variant BRCA-FR 22 38028624 38028624 single base substitution G A exon_variant BRCA-FR 22 38028624 38028624 single base substitution G A missense_variant R522H 1565G>A BRCA-FR 22 38028624 38028624 single base substitution G A missense_variant R536H 1607G>A BRCA-FR 22 38028624 38028624 single base substitution G A missense_variant R576H 1727G>A BRCA-FR 22 38028624 38028624 single base substitution G A missense_variant R609H 1826G>A BRCA-FR 22 38028624 38028624 single base substitution G A missense_variant R626H 1877G>A BRCA-UK 22 38003111 38003111 single base substitution G A upstream_gene_variant BRCA-US 22 38005244 38005244 single base substitution G A 5_prime_UTR_variant BRCA-US 22 38005244 38005244 single base substitution G A exon_variant BRCA-US 22 38005244 38005244 single base substitution G A intron_variant BRCA-US 22 38005244 38005244 single base substitution G A upstream_gene_variant BRCA-US 22 38013003 38013003 single base substitution C T downstream_gene_variant BRCA-US 22 38013003 38013003 single base substitution C T exon_variant BRCA-US 22 38013003 38013003 single base substitution C T missense_variant T60M 179C>T BRCA-US 22 38013003 38013003 single base substitution C T missense_variant T68M 203C>T BRCA-US 22 38013003 38013003 single base substitution C T splice_region_variant BRCA-US 22 38013003 38013003 single base substitution C T upstream_gene_variant BRCA-US 22 38017668 38017668 single base substitution G A downstream_gene_variant BRCA-US 22 38017668 38017668 single base substitution G A exon_variant BRCA-US 22 38017668 38017668 single base substitution G A missense_variant A119T 355G>A BRCA-US 22 38017668 38017668 single base substitution G A missense_variant A159T 475G>A BRCA-US 22 38017668 38017668 single base substitution G A missense_variant A184T 550G>A BRCA-US 22 38017668 38017668 single base substitution G A missense_variant A192T 574G>A BRCA-US 22 38017668 38017668 single base substitution G A missense_variant A209T 625G>A BRCA-US 22 38017668 38017668 single base substitution G A upstream_gene_variant BRCA-US 22 38026927 38026927 deletion of <=200bp C - downstream_gene_variant BRCA-US 22 38026927 38026927 deletion of <=200bp C - exon_variant BRCA-US 22 38026927 38026927 deletion of <=200bp C - frameshift_variant T363 BRCA-US 22 38026927 38026927 deletion of <=200bp C - frameshift_variant T377 BRCA-US 22 38026927 38026927 deletion of <=200bp C - frameshift_variant T417 BRCA-US 22 38026927 38026927 deletion of <=200bp C - frameshift_variant T450 BRCA-US 22 38026927 38026927 deletion of <=200bp C - frameshift_variant T467 BRCA-US 22 38028008 38028008 single base substitution A G downstream_gene_variant BRCA-US 22 38028008 38028008 single base substitution A G exon_variant BRCA-US 22 38028008 38028008 single base substitution A G missense_variant I425V 1273A>G BRCA-US 22 38028008 38028008 single base substitution A G missense_variant I439V 1315A>G BRCA-US 22 38028008 38028008 single base substitution A G missense_variant I479V 1435A>G BRCA-US 22 38028008 38028008 single base substitution A G missense_variant I512V 1534A>G BRCA-US 22 38028008 38028008 single base substitution A G missense_variant I529V 1585A>G BRCA-US 22 38028688 38028688 deletion of <=200bp C - downstream_gene_variant BRCA-US 22 38028688 38028688 deletion of <=200bp C - frameshift_variant F543 BRCA-US 22 38028688 38028688 deletion of <=200bp C - frameshift_variant F557 BRCA-US 22 38028688 38028688 deletion of <=200bp C - frameshift_variant F597 BRCA-US 22 38028688 38028688 deletion of <=200bp C - frameshift_variant F630 BRCA-US 22 38028688 38028688 deletion of <=200bp C - frameshift_variant F647 BTCA-JP 22 38004823 38004823 single base substitution T G 5_prime_UTR_variant BTCA-JP 22 38004823 38004823 single base substitution T G upstream_gene_variant CESC-US 22 38019460 38019460 single base substitution G T downstream_gene_variant CESC-US 22 38019460 38019460 single base substitution G T exon_variant CESC-US 22 38019460 38019460 single base substitution G T stop_gained E173* 517G>T CESC-US 22 38019460 38019460 single base substitution G T stop_gained E213* 637G>T CESC-US 22 38019460 38019460 single base substitution G T stop_gained E238* 712G>T CESC-US 22 38019460 38019460 single base substitution G T stop_gained E246* 736G>T CESC-US 22 38019460 38019460 single base substitution G T stop_gained E263* 787G>T CESC-US 22 38019460 38019460 single base substitution G T upstream_gene_variant CESC-US 22 38021921 38021921 single base substitution C T downstream_gene_variant CESC-US 22 38021921 38021921 single base substitution C T exon_variant CESC-US 22 38021921 38021921 single base substitution C T intron_variant CESC-US 22 38021921 38021921 single base substitution C T missense_variant S280L 839C>T CESC-US 22 38021921 38021921 single base substitution C T missense_variant S320L 959C>T CESC-US 22 38021921 38021921 single base substitution C T missense_variant S353L 1058C>T CESC-US 22 38021921 38021921 single base substitution C T missense_variant S370L 1109C>T CESC-US 22 38021921 38021921 single base substitution C T upstream_gene_variant COAD-US 22 38014500 38014500 single base substitution G A downstream_gene_variant COAD-US 22 38014500 38014500 single base substitution G A exon_variant COAD-US 22 38014500 38014500 single base substitution G A intron_variant COAD-US 22 38014500 38014500 single base substitution G A missense_variant E101K 301G>A COAD-US 22 38014500 38014500 single base substitution G A missense_variant E11K 31G>A COAD-US 22 38014500 38014500 single base substitution G A missense_variant E76K 226G>A COAD-US 22 38014500 38014500 single base substitution G A missense_variant E84K 250G>A COAD-US 22 38014500 38014500 single base substitution G A upstream_gene_variant COAD-US 22 38016296 38016296 single base substitution C T downstream_gene_variant COAD-US 22 38016296 38016296 single base substitution C T missense_variant L111F 331C>T COAD-US 22 38016296 38016296 single base substitution C T missense_variant L119F 355C>T COAD-US 22 38016296 38016296 single base substitution C T missense_variant L136F 406C>T COAD-US 22 38016296 38016296 single base substitution C T missense_variant L46F 136C>T COAD-US 22 38016296 38016296 single base substitution C T missense_variant L86F 256C>T COAD-US 22 38016296 38016296 single base substitution C T upstream_gene_variant COAD-US 22 38019439 38019439 single base substitution G A downstream_gene_variant COAD-US 22 38019439 38019439 single base substitution G A exon_variant COAD-US 22 38019439 38019439 single base substitution G A missense_variant G166S 496G>A COAD-US 22 38019439 38019439 single base substitution G A missense_variant G206S 616G>A COAD-US 22 38019439 38019439 single base substitution G A missense_variant G231S 691G>A COAD-US 22 38019439 38019439 single base substitution G A missense_variant G239S 715G>A COAD-US 22 38019439 38019439 single base substitution G A missense_variant G256S 766G>A COAD-US 22 38019439 38019439 single base substitution G A upstream_gene_variant COAD-US 22 38021882 38021882 single base substitution G A downstream_gene_variant COAD-US 22 38021882 38021882 single base substitution G A exon_variant COAD-US 22 38021882 38021882 single base substitution G A intron_variant COAD-US 22 38021882 38021882 single base substitution G A missense_variant R267H 800G>A COAD-US 22 38021882 38021882 single base substitution G A missense_variant R307H 920G>A COAD-US 22 38021882 38021882 single base substitution G A missense_variant R340H 1019G>A COAD-US 22 38021882 38021882 single base substitution G A missense_variant R357H 1070G>A COAD-US 22 38021882 38021882 single base substitution G A upstream_gene_variant COAD-US 22 38027008 38027008 single base substitution A G downstream_gene_variant COAD-US 22 38027008 38027008 single base substitution A G exon_variant COAD-US 22 38027008 38027008 single base substitution A G missense_variant H390R 1169A>G COAD-US 22 38027008 38027008 single base substitution A G missense_variant H404R 1211A>G COAD-US 22 38027008 38027008 single base substitution A G missense_variant H444R 1331A>G COAD-US 22 38027008 38027008 single base substitution A G missense_variant H477R 1430A>G COAD-US 22 38027008 38027008 single base substitution A G missense_variant H494R 1481A>G COCA-CN 22 38008566 38008566 single base substitution C T 5_prime_UTR_variant COCA-CN 22 38008566 38008566 single base substitution C T intron_variant COCA-CN 22 38008566 38008566 single base substitution C T upstream_gene_variant COCA-CN 22 38014500 38014500 single base substitution G A downstream_gene_variant COCA-CN 22 38014500 38014500 single base substitution G A exon_variant COCA-CN 22 38014500 38014500 single base substitution G A intron_variant COCA-CN 22 38014500 38014500 single base substitution G A missense_variant E101K 301G>A COCA-CN 22 38014500 38014500 single base substitution G A missense_variant E11K 31G>A COCA-CN 22 38014500 38014500 single base substitution G A missense_variant E76K 226G>A COCA-CN 22 38014500 38014500 single base substitution G A missense_variant E84K 250G>A COCA-CN 22 38014500 38014500 single base substitution G A upstream_gene_variant COCA-CN 22 38014527 38014527 single base substitution G A downstream_gene_variant COCA-CN 22 38014527 38014527 single base substitution G A exon_variant COCA-CN 22 38014527 38014527 single base substitution G A intron_variant COCA-CN 22 38014527 38014527 single base substitution G A missense_variant E110K 328G>A COCA-CN 22 38014527 38014527 single base substitution G A missense_variant E20K 58G>A COCA-CN 22 38014527 38014527 single base substitution G A missense_variant E85K 253G>A COCA-CN 22 38014527 38014527 single base substitution G A missense_variant E93K 277G>A COCA-CN 22 38014527 38014527 single base substitution G A upstream_gene_variant COCA-CN 22 38014680 38014680 single base substitution G T downstream_gene_variant COCA-CN 22 38014680 38014680 single base substitution G T intron_variant COCA-CN 22 38014680 38014680 single base substitution G T upstream_gene_variant COCA-CN 22 38016833 38016833 single base substitution C T downstream_gene_variant COCA-CN 22 38016833 38016833 single base substitution C T synonymous_variant S114S 342C>T COCA-CN 22 38016833 38016833 single base substitution C T synonymous_variant S139S 417C>T COCA-CN 22 38016833 38016833 single base substitution C T synonymous_variant S147S 441C>T COCA-CN 22 38016833 38016833 single base substitution C T synonymous_variant S164S 492C>T COCA-CN 22 38016833 38016833 single base substitution C T synonymous_variant S74S 222C>T COCA-CN 22 38016833 38016833 single base substitution C T upstream_gene_variant EOPC-DE 22 38013864 38013864 single base substitution C T 3_prime_UTR_variant EOPC-DE 22 38013864 38013864 single base substitution C T downstream_gene_variant EOPC-DE 22 38013864 38013864 single base substitution C T exon_variant EOPC-DE 22 38013864 38013864 single base substitution C T intron_variant EOPC-DE 22 38013864 38013864 single base substitution C T upstream_gene_variant ESAD-UK 22 38003310 38003310 single base substitution G A upstream_gene_variant ESAD-UK 22 38003346 38003346 single base substitution C T upstream_gene_variant ESAD-UK 22 38008314 38008314 single base substitution A T intron_variant ESAD-UK 22 38008314 38008314 single base substitution A T upstream_gene_variant ESAD-UK 22 38009592 38009592 single base substitution G A intron_variant ESAD-UK 22 38009592 38009592 single base substitution G A upstream_gene_variant ESAD-UK 22 38009598 38009598 single base substitution G A intron_variant ESAD-UK 22 38009598 38009598 single base substitution G A upstream_gene_variant ESAD-UK 22 38010730 38010730 single base substitution A G downstream_gene_variant ESAD-UK 22 38010730 38010730 single base substitution A G intron_variant ESAD-UK 22 38010730 38010730 single base substitution A G upstream_gene_variant ESAD-UK 22 38011494 38011494 single base substitution C T downstream_gene_variant ESAD-UK 22 38011494 38011494 single base substitution C T intron_variant ESAD-UK 22 38011494 38011494 single base substitution C T upstream_gene_variant ESAD-UK 22 38011663 38011663 single base substitution C T downstream_gene_variant ESAD-UK 22 38011663 38011663 single base substitution C T intron_variant ESAD-UK 22 38011663 38011663 single base substitution C T upstream_gene_variant ESAD-UK 22 38013229 38013229 single base substitution C T 3_prime_UTR_variant ESAD-UK 22 38013229 38013229 single base substitution C T downstream_gene_variant ESAD-UK 22 38013229 38013229 single base substitution C T exon_variant ESAD-UK 22 38013229 38013229 single base substitution C T intron_variant ESAD-UK 22 38013229 38013229 single base substitution C T upstream_gene_variant ESAD-UK 22 38013294 38013294 single base substitution G A 3_prime_UTR_variant ESAD-UK 22 38013294 38013294 single base substitution G A downstream_gene_variant ESAD-UK 22 38013294 38013294 single base substitution G A exon_variant ESAD-UK 22 38013294 38013294 single base substitution G A intron_variant ESAD-UK 22 38013294 38013294 single base substitution G A upstream_gene_variant ESAD-UK 22 38014001 38014001 single base substitution C T 3_prime_UTR_variant ESAD-UK 22 38014001 38014001 single base substitution C T downstream_gene_variant ESAD-UK 22 38014001 38014001 single base substitution C T exon_variant ESAD-UK 22 38014001 38014001 single base substitution C T intron_variant ESAD-UK 22 38014001 38014001 single base substitution C T upstream_gene_variant ESAD-UK 22 38018527 38018527 single base substitution C T downstream_gene_variant ESAD-UK 22 38018527 38018527 single base substitution C T intron_variant ESAD-UK 22 38018527 38018527 single base substitution C T upstream_gene_variant ESAD-UK 22 38019242 38019242 single base substitution C A downstream_gene_variant ESAD-UK 22 38019242 38019242 single base substitution C A intron_variant ESAD-UK 22 38019242 38019242 single base substitution C A upstream_gene_variant ESAD-UK 22 38019300 38019300 single base substitution G C downstream_gene_variant ESAD-UK 22 38019300 38019300 single base substitution G C intron_variant ESAD-UK 22 38019300 38019300 single base substitution G C upstream_gene_variant ESAD-UK 22 38020956 38020956 single base substitution T C downstream_gene_variant ESAD-UK 22 38020956 38020956 single base substitution T C exon_variant ESAD-UK 22 38020956 38020956 single base substitution T C intron_variant ESAD-UK 22 38020956 38020956 single base substitution T C upstream_gene_variant ESAD-UK 22 38031636 38031636 single base substitution G T downstream_gene_variant GBM-US 22 38016358 38016366 deletion of <=200bp AAAGAAGCA - downstream_gene_variant GBM-US 22 38016358 38016366 deletion of <=200bp AAAGAAGCA - splice_region_variant GBM-US 22 38016358 38016366 deletion of <=200bp AAAGAAGCA - upstream_gene_variant GBM-US 22 38016850 38016850 single base substitution A G downstream_gene_variant GBM-US 22 38016850 38016850 single base substitution A G missense_variant D120G 359A>G GBM-US 22 38016850 38016850 single base substitution A G missense_variant D145G 434A>G GBM-US 22 38016850 38016850 single base substitution A G missense_variant D153G 458A>G GBM-US 22 38016850 38016850 single base substitution A G missense_variant D170G 509A>G GBM-US 22 38016850 38016850 single base substitution A G missense_variant D80G 239A>G GBM-US 22 38016850 38016850 single base substitution A G upstream_gene_variant KIRC-US 22 38010280 38010280 single base substitution G A downstream_gene_variant KIRC-US 22 38010280 38010280 single base substitution G A exon_variant KIRC-US 22 38010280 38010280 single base substitution G A missense_variant G35R 103G>A KIRC-US 22 38010280 38010280 single base substitution G A missense_variant G43R 127G>A KIRC-US 22 38010280 38010280 single base substitution G A splice_region_variant KIRC-US 22 38010280 38010280 single base substitution G A upstream_gene_variant KIRC-US 22 38027029 38027029 single base substitution C T downstream_gene_variant KIRC-US 22 38027029 38027029 single base substitution C T exon_variant KIRC-US 22 38027029 38027029 single base substitution C T missense_variant P397L 1190C>T KIRC-US 22 38027029 38027029 single base substitution C T missense_variant P411L 1232C>T KIRC-US 22 38027029 38027029 single base substitution C T missense_variant P451L 1352C>T KIRC-US 22 38027029 38027029 single base substitution C T missense_variant P484L 1451C>T KIRC-US 22 38027029 38027029 single base substitution C T missense_variant P501L 1502C>T LAML-KR 22 38000740 38000740 single base substitution G T upstream_gene_variant LAML-KR 22 38010035 38010035 single base substitution A C 5_prime_UTR_variant LAML-KR 22 38010035 38010035 single base substitution A C intron_variant LAML-KR 22 38010035 38010035 single base substitution A C upstream_gene_variant LAML-KR 22 38014129 38014129 single base substitution C A downstream_gene_variant LAML-KR 22 38014129 38014129 single base substitution C A exon_variant LAML-KR 22 38014129 38014129 single base substitution C A intron_variant LAML-KR 22 38014129 38014129 single base substitution C A upstream_gene_variant LGG-US 22 38014515 38014515 single base substitution C T downstream_gene_variant LGG-US 22 38014515 38014515 single base substitution C T exon_variant LGG-US 22 38014515 38014515 single base substitution C T intron_variant LGG-US 22 38014515 38014515 single base substitution C T missense_variant R106C 316C>T LGG-US 22 38014515 38014515 single base substitution C T missense_variant R16C 46C>T LGG-US 22 38014515 38014515 single base substitution C T missense_variant R81C 241C>T LGG-US 22 38014515 38014515 single base substitution C T missense_variant R89C 265C>T LGG-US 22 38014515 38014515 single base substitution C T upstream_gene_variant LICA-FR 22 37999904 37999904 single base substitution A G upstream_gene_variant LICA-FR 22 38000275 38000275 single base substitution A C upstream_gene_variant LICA-FR 22 38008287 38008287 single base substitution C T intron_variant LICA-FR 22 38008287 38008287 single base substitution C T upstream_gene_variant LICA-FR 22 38017655 38017655 single base substitution C G downstream_gene_variant LICA-FR 22 38017655 38017655 single base substitution C G exon_variant LICA-FR 22 38017655 38017655 single base substitution C G synonymous_variant P114P 342C>G LICA-FR 22 38017655 38017655 single base substitution C G synonymous_variant P154P 462C>G LICA-FR 22 38017655 38017655 single base substitution C G synonymous_variant P179P 537C>G LICA-FR 22 38017655 38017655 single base substitution C G synonymous_variant P187P 561C>G LICA-FR 22 38017655 38017655 single base substitution C G synonymous_variant P204P 612C>G LICA-FR 22 38017655 38017655 single base substitution C G upstream_gene_variant LICA-FR 22 38026101 38026101 single base substitution G A downstream_gene_variant LICA-FR 22 38026101 38026101 single base substitution G A exon_variant LICA-FR 22 38026101 38026101 single base substitution G A missense_variant G332S 994G>A LICA-FR 22 38026101 38026101 single base substitution G A missense_variant G346S 1036G>A LICA-FR 22 38026101 38026101 single base substitution G A missense_variant G386S 1156G>A LICA-FR 22 38026101 38026101 single base substitution G A missense_variant G419S 1255G>A LICA-FR 22 38026101 38026101 single base substitution G A missense_variant G436S 1306G>A LICA-FR 22 38026101 38026101 single base substitution G A upstream_gene_variant LICA-FR 22 38027395 38027395 single base substitution G T downstream_gene_variant LICA-FR 22 38027395 38027395 single base substitution G T intron_variant LINC-JP 22 38014508 38014508 single base substitution C T downstream_gene_variant LINC-JP 22 38014508 38014508 single base substitution C T exon_variant LINC-JP 22 38014508 38014508 single base substitution C T intron_variant LINC-JP 22 38014508 38014508 single base substitution C T synonymous_variant G103G 309C>T LINC-JP 22 38014508 38014508 single base substitution C T synonymous_variant G13G 39C>T LINC-JP 22 38014508 38014508 single base substitution C T synonymous_variant G78G 234C>T LINC-JP 22 38014508 38014508 single base substitution C T synonymous_variant G86G 258C>T LINC-JP 22 38014508 38014508 single base substitution C T upstream_gene_variant LINC-JP 22 38016450 38016450 single base substitution G A downstream_gene_variant LINC-JP 22 38016450 38016450 single base substitution G A intron_variant LINC-JP 22 38016450 38016450 single base substitution G A upstream_gene_variant LINC-JP 22 38016952 38016952 deletion of <=200bp C - downstream_gene_variant LINC-JP 22 38016952 38016952 deletion of <=200bp C - intron_variant LINC-JP 22 38016952 38016952 deletion of <=200bp C - upstream_gene_variant LINC-JP 22 38027953 38027953 single base substitution G A downstream_gene_variant LINC-JP 22 38027953 38027953 single base substitution G A intron_variant LIRI-JP 22 38000660 38000660 single base substitution C T upstream_gene_variant LIRI-JP 22 38006058 38006058 single base substitution C T intron_variant LIRI-JP 22 38006058 38006058 single base substitution C T upstream_gene_variant LIRI-JP 22 38010636 38010636 single base substitution A G downstream_gene_variant LIRI-JP 22 38010636 38010636 single base substitution A G intron_variant LIRI-JP 22 38010636 38010636 single base substitution A G upstream_gene_variant LIRI-JP 22 38017322 38017322 single base substitution G A downstream_gene_variant LIRI-JP 22 38017322 38017322 single base substitution G A intron_variant LIRI-JP 22 38017322 38017322 single base substitution G A upstream_gene_variant LIRI-JP 22 38025966 38025966 single base substitution C G downstream_gene_variant LIRI-JP 22 38025966 38025966 single base substitution C G intron_variant LIRI-JP 22 38025966 38025966 single base substitution C G upstream_gene_variant LIRI-JP 22 38032219 38032219 single base substitution T G downstream_gene_variant LUSC-KR 22 38005064 38005064 single base substitution C A 5_prime_UTR_premature_start_codon_gain_variant LUSC-KR 22 38005064 38005064 single base substitution C A intron_variant LUSC-KR 22 38005064 38005064 single base substitution C A upstream_gene_variant LUSC-KR 22 38010035 38010035 single base substitution A C 5_prime_UTR_variant LUSC-KR 22 38010035 38010035 single base substitution A C intron_variant LUSC-KR 22 38010035 38010035 single base substitution A C upstream_gene_variant LUSC-KR 22 38010345 38010345 single base substitution A G downstream_gene_variant LUSC-KR 22 38010345 38010345 single base substitution A G intron_variant LUSC-KR 22 38010345 38010345 single base substitution A G upstream_gene_variant LUSC-KR 22 38015377 38015377 single base substitution A C downstream_gene_variant LUSC-KR 22 38015377 38015377 single base substitution A C intron_variant LUSC-KR 22 38015377 38015377 single base substitution A C upstream_gene_variant LUSC-KR 22 38024964 38024964 single base substitution A T downstream_gene_variant LUSC-KR 22 38024964 38024964 single base substitution A T intron_variant LUSC-KR 22 38024964 38024964 single base substitution A T upstream_gene_variant LUSC-KR 22 38025375 38025375 single base substitution T C downstream_gene_variant LUSC-KR 22 38025375 38025375 single base substitution T C intron_variant LUSC-KR 22 38025375 38025375 single base substitution T C upstream_gene_variant LUSC-KR 22 38028441 38028441 single base substitution G A downstream_gene_variant LUSC-KR 22 38028441 38028441 single base substitution G A exon_variant LUSC-KR 22 38028441 38028441 single base substitution G A synonymous_variant S489S 1467G>A LUSC-KR 22 38028441 38028441 single base substitution G A synonymous_variant S503S 1509G>A LUSC-KR 22 38028441 38028441 single base substitution G A synonymous_variant S543S 1629G>A LUSC-KR 22 38028441 38028441 single base substitution G A synonymous_variant S576S 1728G>A LUSC-KR 22 38028441 38028441 single base substitution G A synonymous_variant S593S 1779G>A LUSC-KR 22 38029141 38029141 single base substitution G C 3_prime_UTR_variant LUSC-KR 22 38029141 38029141 single base substitution G C downstream_gene_variant MALY-DE 22 37999562 37999562 single base substitution T C upstream_gene_variant MALY-DE 22 38001926 38001928 deletion of <=200bp TAT - upstream_gene_variant MALY-DE 22 38004326 38004326 single base substitution G A upstream_gene_variant MALY-DE 22 38006243 38006243 single base substitution C T exon_variant MALY-DE 22 38006243 38006243 single base substitution C T intron_variant MALY-DE 22 38006243 38006243 single base substitution C T upstream_gene_variant MALY-DE 22 38011855 38011855 insertion of <=200bp - T downstream_gene_variant MALY-DE 22 38011855 38011855 insertion of <=200bp - T intron_variant MALY-DE 22 38011855 38011855 insertion of <=200bp - T upstream_gene_variant MELA-AU 22 37999616 37999616 single base substitution G A upstream_gene_variant MELA-AU 22 38000617 38000617 single base substitution G A upstream_gene_variant MELA-AU 22 38001224 38001224 single base substitution C T upstream_gene_variant MELA-AU 22 38001778 38001778 single base substitution C T upstream_gene_variant MELA-AU 22 38002451 38002451 single base substitution G A upstream_gene_variant MELA-AU 22 38003054 38003054 single base substitution C T upstream_gene_variant MELA-AU 22 38003741 38003742 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 22 38004723 38004723 single base substitution C T 5_prime_UTR_variant MELA-AU 22 38004723 38004723 single base substitution C T upstream_gene_variant MELA-AU 22 38004830 38004830 single base substitution G A 5_prime_UTR_variant MELA-AU 22 38004830 38004830 single base substitution G A upstream_gene_variant MELA-AU 22 38005329 38005329 single base substitution C T 5_prime_UTR_variant MELA-AU 22 38005329 38005329 single base substitution C T exon_variant MELA-AU 22 38005329 38005329 single base substitution C T intron_variant MELA-AU 22 38005329 38005329 single base substitution C T upstream_gene_variant MELA-AU 22 38006283 38006283 single base substitution C T exon_variant MELA-AU 22 38006283 38006283 single base substitution C T intron_variant MELA-AU 22 38006283 38006283 single base substitution C T upstream_gene_variant MELA-AU 22 38006443 38006443 single base substitution C G exon_variant MELA-AU 22 38006443 38006443 single base substitution C G intron_variant MELA-AU 22 38006443 38006443 single base substitution C G upstream_gene_variant MELA-AU 22 38006861 38006861 single base substitution T A intron_variant MELA-AU 22 38006861 38006861 single base substitution T A upstream_gene_variant MELA-AU 22 38008922 38008922 single base substitution T G 5_prime_UTR_variant MELA-AU 22 38008922 38008922 single base substitution T G intron_variant MELA-AU 22 38008922 38008922 single base substitution T G upstream_gene_variant MELA-AU 22 38008970 38008970 single base substitution A G 5_prime_UTR_variant MELA-AU 22 38008970 38008970 single base substitution A G intron_variant MELA-AU 22 38008970 38008970 single base substitution A G upstream_gene_variant MELA-AU 22 38009491 38009491 single base substitution T C intron_variant MELA-AU 22 38009491 38009491 single base substitution T C upstream_gene_variant MELA-AU 22 38009840 38009840 single base substitution A G intron_variant MELA-AU 22 38009840 38009840 single base substitution A G upstream_gene_variant MELA-AU 22 38010107 38010107 single base substitution C T intron_variant MELA-AU 22 38010107 38010107 single base substitution C T upstream_gene_variant MELA-AU 22 38011338 38011338 single base substitution C T downstream_gene_variant MELA-AU 22 38011338 38011338 single base substitution C T intron_variant MELA-AU 22 38011338 38011338 single base substitution C T upstream_gene_variant MELA-AU 22 38011450 38011450 single base substitution C T downstream_gene_variant MELA-AU 22 38011450 38011450 single base substitution C T intron_variant MELA-AU 22 38011450 38011450 single base substitution C T upstream_gene_variant MELA-AU 22 38011559 38011559 single base substitution C T downstream_gene_variant MELA-AU 22 38011559 38011559 single base substitution C T intron_variant MELA-AU 22 38011559 38011559 single base substitution C T upstream_gene_variant MELA-AU 22 38011888 38011888 single base substitution C T downstream_gene_variant MELA-AU 22 38011888 38011888 single base substitution C T intron_variant MELA-AU 22 38011888 38011888 single base substitution C T upstream_gene_variant MELA-AU 22 38011970 38011970 single base substitution C T downstream_gene_variant MELA-AU 22 38011970 38011970 single base substitution C T intron_variant MELA-AU 22 38011970 38011970 single base substitution C T upstream_gene_variant MELA-AU 22 38012329 38012329 single base substitution C T downstream_gene_variant MELA-AU 22 38012329 38012329 single base substitution C T intron_variant MELA-AU 22 38012329 38012329 single base substitution C T upstream_gene_variant MELA-AU 22 38012362 38012362 single base substitution C T downstream_gene_variant MELA-AU 22 38012362 38012362 single base substitution C T intron_variant MELA-AU 22 38012362 38012362 single base substitution C T upstream_gene_variant MELA-AU 22 38013139 38013139 single base substitution C T 3_prime_UTR_variant MELA-AU 22 38013139 38013139 single base substitution C T downstream_gene_variant MELA-AU 22 38013139 38013139 single base substitution C T exon_variant MELA-AU 22 38013139 38013139 single base substitution C T intron_variant MELA-AU 22 38013139 38013139 single base substitution C T upstream_gene_variant MELA-AU 22 38013159 38013159 single base substitution C T 3_prime_UTR_variant MELA-AU 22 38013159 38013159 single base substitution C T downstream_gene_variant MELA-AU 22 38013159 38013159 single base substitution C T exon_variant MELA-AU 22 38013159 38013159 single base substitution C T intron_variant MELA-AU 22 38013159 38013159 single base substitution C T upstream_gene_variant MELA-AU 22 38013183 38013184 multiple base substitution (>=2bp and <=200bp) CC AT 3_prime_UTR_variant MELA-AU 22 38013183 38013184 multiple base substitution (>=2bp and <=200bp) CC AT downstream_gene_variant MELA-AU 22 38013183 38013184 multiple base substitution (>=2bp and <=200bp) CC AT exon_variant MELA-AU 22 38013183 38013184 multiple base substitution (>=2bp and <=200bp) CC AT intron_variant MELA-AU 22 38013183 38013184 multiple base substitution (>=2bp and <=200bp) CC AT upstream_gene_variant MELA-AU 22 38014083 38014083 single base substitution C T 3_prime_UTR_variant MELA-AU 22 38014083 38014083 single base substitution C T downstream_gene_variant MELA-AU 22 38014083 38014083 single base substitution C T exon_variant MELA-AU 22 38014083 38014083 single base substitution C T intron_variant MELA-AU 22 38014083 38014083 single base substitution C T upstream_gene_variant MELA-AU 22 38015669 38015669 single base substitution C T downstream_gene_variant MELA-AU 22 38015669 38015669 single base substitution C T intron_variant MELA-AU 22 38015669 38015669 single base substitution C T upstream_gene_variant MELA-AU 22 38015890 38015890 single base substitution C T 3_prime_UTR_variant MELA-AU 22 38015890 38015890 single base substitution C T downstream_gene_variant MELA-AU 22 38015890 38015890 single base substitution C T exon_variant MELA-AU 22 38015890 38015890 single base substitution C T intron_variant MELA-AU 22 38015890 38015890 single base substitution C T upstream_gene_variant MELA-AU 22 38016017 38016017 single base substitution C T 3_prime_UTR_variant MELA-AU 22 38016017 38016017 single base substitution C T downstream_gene_variant MELA-AU 22 38016017 38016017 single base substitution C T exon_variant MELA-AU 22 38016017 38016017 single base substitution C T intron_variant MELA-AU 22 38016017 38016017 single base substitution C T upstream_gene_variant MELA-AU 22 38016274 38016274 single base substitution G A downstream_gene_variant MELA-AU 22 38016274 38016274 single base substitution G A synonymous_variant V103V 309G>A MELA-AU 22 38016274 38016274 single base substitution G A synonymous_variant V111V 333G>A MELA-AU 22 38016274 38016274 single base substitution G A synonymous_variant V128V 384G>A MELA-AU 22 38016274 38016274 single base substitution G A synonymous_variant V38V 114G>A MELA-AU 22 38016274 38016274 single base substitution G A synonymous_variant V78V 234G>A MELA-AU 22 38016274 38016274 single base substitution G A upstream_gene_variant MELA-AU 22 38016755 38016755 single base substitution C T downstream_gene_variant MELA-AU 22 38016755 38016755 single base substitution C T intron_variant MELA-AU 22 38016755 38016755 single base substitution C T upstream_gene_variant MELA-AU 22 38016764 38016764 single base substitution C T downstream_gene_variant MELA-AU 22 38016764 38016764 single base substitution C T intron_variant MELA-AU 22 38016764 38016764 single base substitution C T upstream_gene_variant MELA-AU 22 38017664 38017664 single base substitution C T downstream_gene_variant MELA-AU 22 38017664 38017664 single base substitution C T exon_variant MELA-AU 22 38017664 38017664 single base substitution C T synonymous_variant L117L 351C>T MELA-AU 22 38017664 38017664 single base substitution C T synonymous_variant L157L 471C>T MELA-AU 22 38017664 38017664 single base substitution C T synonymous_variant L182L 546C>T MELA-AU 22 38017664 38017664 single base substitution C T synonymous_variant L190L 570C>T MELA-AU 22 38017664 38017664 single base substitution C T synonymous_variant L207L 621C>T MELA-AU 22 38017664 38017664 single base substitution C T upstream_gene_variant MELA-AU 22 38018616 38018616 single base substitution C T downstream_gene_variant MELA-AU 22 38018616 38018616 single base substitution C T intron_variant MELA-AU 22 38018616 38018616 single base substitution C T upstream_gene_variant MELA-AU 22 38018863 38018864 multiple base substitution (>=2bp and <=200bp) AC TT downstream_gene_variant MELA-AU 22 38018863 38018864 multiple base substitution (>=2bp and <=200bp) AC TT intron_variant MELA-AU 22 38018863 38018864 multiple base substitution (>=2bp and <=200bp) AC TT upstream_gene_variant MELA-AU 22 38019162 38019162 single base substitution T C downstream_gene_variant MELA-AU 22 38019162 38019162 single base substitution T C intron_variant MELA-AU 22 38019162 38019162 single base substitution T C upstream_gene_variant MELA-AU 22 38019301 38019301 single base substitution G T downstream_gene_variant MELA-AU 22 38019301 38019301 single base substitution G T intron_variant MELA-AU 22 38019301 38019301 single base substitution G T upstream_gene_variant MELA-AU 22 38020042 38020042 single base substitution C T downstream_gene_variant MELA-AU 22 38020042 38020042 single base substitution C T exon_variant MELA-AU 22 38020042 38020042 single base substitution C T intron_variant MELA-AU 22 38020345 38020345 single base substitution C T downstream_gene_variant MELA-AU 22 38020345 38020345 single base substitution C T exon_variant MELA-AU 22 38020345 38020345 single base substitution C T intron_variant MELA-AU 22 38020703 38020703 single base substitution G A downstream_gene_variant MELA-AU 22 38020703 38020703 single base substitution G A exon_variant MELA-AU 22 38020703 38020703 single base substitution G A intron_variant MELA-AU 22 38020703 38020703 single base substitution G A upstream_gene_variant MELA-AU 22 38020871 38020871 single base substitution C T downstream_gene_variant MELA-AU 22 38020871 38020871 single base substitution C T exon_variant MELA-AU 22 38020871 38020871 single base substitution C T intron_variant MELA-AU 22 38020871 38020871 single base substitution C T upstream_gene_variant MELA-AU 22 38020914 38020914 single base substitution C T downstream_gene_variant MELA-AU 22 38020914 38020914 single base substitution C T exon_variant MELA-AU 22 38020914 38020914 single base substitution C T intron_variant MELA-AU 22 38020914 38020914 single base substitution C T upstream_gene_variant MELA-AU 22 38020983 38020983 single base substitution C T downstream_gene_variant MELA-AU 22 38020983 38020983 single base substitution C T exon_variant MELA-AU 22 38020983 38020983 single base substitution C T intron_variant MELA-AU 22 38020983 38020983 single base substitution C T synonymous_variant I207I 621C>T MELA-AU 22 38020983 38020983 single base substitution C T synonymous_variant I247I 741C>T MELA-AU 22 38020983 38020983 single base substitution C T synonymous_variant I280I 840C>T MELA-AU 22 38020983 38020983 single base substitution C T synonymous_variant I297I 891C>T MELA-AU 22 38020983 38020983 single base substitution C T upstream_gene_variant MELA-AU 22 38021228 38021228 single base substitution G A downstream_gene_variant MELA-AU 22 38021228 38021228 single base substitution G A intron_variant MELA-AU 22 38021228 38021228 single base substitution G A upstream_gene_variant MELA-AU 22 38021378 38021378 single base substitution C T downstream_gene_variant MELA-AU 22 38021378 38021378 single base substitution C T intron_variant MELA-AU 22 38021378 38021378 single base substitution C T upstream_gene_variant MELA-AU 22 38021463 38021463 single base substitution C T downstream_gene_variant MELA-AU 22 38021463 38021463 single base substitution C T intron_variant MELA-AU 22 38021463 38021463 single base substitution C T upstream_gene_variant MELA-AU 22 38021747 38021747 single base substitution G A downstream_gene_variant MELA-AU 22 38021747 38021747 single base substitution G A intron_variant MELA-AU 22 38021747 38021747 single base substitution G A upstream_gene_variant MELA-AU 22 38021992 38021992 single base substitution C T downstream_gene_variant MELA-AU 22 38021992 38021992 single base substitution C T exon_variant MELA-AU 22 38021992 38021992 single base substitution C T intron_variant MELA-AU 22 38021992 38021992 single base substitution C T upstream_gene_variant MELA-AU 22 38022423 38022423 single base substitution T C downstream_gene_variant MELA-AU 22 38022423 38022423 single base substitution T C exon_variant MELA-AU 22 38022423 38022423 single base substitution T C intron_variant MELA-AU 22 38022423 38022423 single base substitution T C upstream_gene_variant MELA-AU 22 38022778 38022778 single base substitution C T downstream_gene_variant MELA-AU 22 38022778 38022778 single base substitution C T exon_variant MELA-AU 22 38022778 38022778 single base substitution C T intron_variant MELA-AU 22 38022778 38022778 single base substitution C T upstream_gene_variant MELA-AU 22 38022783 38022784 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 22 38022783 38022784 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 22 38022783 38022784 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 22 38022783 38022784 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 22 38023561 38023561 single base substitution C T downstream_gene_variant MELA-AU 22 38023561 38023561 single base substitution C T intron_variant MELA-AU 22 38023561 38023561 single base substitution C T upstream_gene_variant MELA-AU 22 38024287 38024287 single base substitution C T downstream_gene_variant MELA-AU 22 38024287 38024287 single base substitution C T intron_variant MELA-AU 22 38024287 38024287 single base substitution C T upstream_gene_variant MELA-AU 22 38025107 38025107 single base substitution C T downstream_gene_variant MELA-AU 22 38025107 38025107 single base substitution C T intron_variant MELA-AU 22 38025107 38025107 single base substitution C T upstream_gene_variant MELA-AU 22 38025209 38025209 single base substitution A C downstream_gene_variant MELA-AU 22 38025209 38025209 single base substitution A C intron_variant MELA-AU 22 38025209 38025209 single base substitution A C upstream_gene_variant MELA-AU 22 38025352 38025352 single base substitution C T downstream_gene_variant MELA-AU 22 38025352 38025352 single base substitution C T intron_variant MELA-AU 22 38025352 38025352 single base substitution C T upstream_gene_variant MELA-AU 22 38025412 38025412 single base substitution C T downstream_gene_variant MELA-AU 22 38025412 38025412 single base substitution C T intron_variant MELA-AU 22 38025412 38025412 single base substitution C T upstream_gene_variant MELA-AU 22 38025487 38025487 single base substitution C T downstream_gene_variant MELA-AU 22 38025487 38025487 single base substitution C T exon_variant MELA-AU 22 38025487 38025487 single base substitution C T missense_variant P284L 851C>T MELA-AU 22 38025487 38025487 single base substitution C T missense_variant P298L 893C>T MELA-AU 22 38025487 38025487 single base substitution C T missense_variant P338L 1013C>T MELA-AU 22 38025487 38025487 single base substitution C T missense_variant P371L 1112C>T MELA-AU 22 38025487 38025487 single base substitution C T missense_variant P388L 1163C>T MELA-AU 22 38025487 38025487 single base substitution C T upstream_gene_variant MELA-AU 22 38025490 38025490 single base substitution C T downstream_gene_variant MELA-AU 22 38025490 38025490 single base substitution C T exon_variant MELA-AU 22 38025490 38025490 single base substitution C T missense_variant P285L 854C>T MELA-AU 22 38025490 38025490 single base substitution C T missense_variant P299L 896C>T MELA-AU 22 38025490 38025490 single base substitution C T missense_variant P339L 1016C>T MELA-AU 22 38025490 38025490 single base substitution C T missense_variant P372L 1115C>T MELA-AU 22 38025490 38025490 single base substitution C T missense_variant P389L 1166C>T MELA-AU 22 38025490 38025490 single base substitution C T upstream_gene_variant MELA-AU 22 38026028 38026028 single base substitution A C downstream_gene_variant MELA-AU 22 38026028 38026028 single base substitution A C exon_variant MELA-AU 22 38026028 38026028 single base substitution A C synonymous_variant P307P 921A>C MELA-AU 22 38026028 38026028 single base substitution A C synonymous_variant P321P 963A>C MELA-AU 22 38026028 38026028 single base substitution A C synonymous_variant P361P 1083A>C MELA-AU 22 38026028 38026028 single base substitution A C synonymous_variant P394P 1182A>C MELA-AU 22 38026028 38026028 single base substitution A C synonymous_variant P411P 1233A>C MELA-AU 22 38026028 38026028 single base substitution A C upstream_gene_variant MELA-AU 22 38027277 38027277 single base substitution C T downstream_gene_variant MELA-AU 22 38027277 38027277 single base substitution C T intron_variant MELA-AU 22 38027987 38027987 single base substitution C T downstream_gene_variant MELA-AU 22 38027987 38027987 single base substitution C T intron_variant MELA-AU 22 38028235 38028235 single base substitution G A downstream_gene_variant MELA-AU 22 38028235 38028235 single base substitution G A intron_variant MELA-AU 22 38028437 38028438 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 22 38028437 38028438 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 22 38028437 38028438 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant P488L 1463CC>TT MELA-AU 22 38028437 38028438 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant P502L 1505CC>TT MELA-AU 22 38028437 38028438 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant P542L 1625CC>TT MELA-AU 22 38028437 38028438 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant P575L 1724CC>TT MELA-AU 22 38028437 38028438 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant P592L 1775CC>TT MELA-AU 22 38028580 38028580 single base substitution C T downstream_gene_variant MELA-AU 22 38028580 38028580 single base substitution C T intron_variant MELA-AU 22 38028692 38028692 single base substitution C T downstream_gene_variant MELA-AU 22 38028692 38028692 single base substitution C T missense_variant P545S 1633C>T MELA-AU 22 38028692 38028692 single base substitution C T missense_variant P559S 1675C>T MELA-AU 22 38028692 38028692 single base substitution C T missense_variant P599S 1795C>T MELA-AU 22 38028692 38028692 single base substitution C T missense_variant P632S 1894C>T MELA-AU 22 38028692 38028692 single base substitution C T missense_variant P649S 1945C>T MELA-AU 22 38029086 38029086 single base substitution C T 3_prime_UTR_variant MELA-AU 22 38029086 38029086 single base substitution C T downstream_gene_variant MELA-AU 22 38029328 38029329 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 22 38029328 38029329 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 22 38029738 38029738 single base substitution G C downstream_gene_variant MELA-AU 22 38030623 38030624 deletion of <=200bp AG - downstream_gene_variant MELA-AU 22 38031568 38031568 single base substitution C T downstream_gene_variant MELA-AU 22 38032189 38032189 single base substitution C T downstream_gene_variant MELA-AU 22 38033772 38033772 single base substitution G A downstream_gene_variant MELA-AU 22 38034152 38034152 single base substitution G A downstream_gene_variant ORCA-IN 22 38020988 38020988 single base substitution A C downstream_gene_variant ORCA-IN 22 38020988 38020988 single base substitution A C exon_variant ORCA-IN 22 38020988 38020988 single base substitution A C intron_variant ORCA-IN 22 38020988 38020988 single base substitution A C missense_variant Q209P 626A>C ORCA-IN 22 38020988 38020988 single base substitution A C missense_variant Q249P 746A>C ORCA-IN 22 38020988 38020988 single base substitution A C missense_variant Q282P 845A>C ORCA-IN 22 38020988 38020988 single base substitution A C missense_variant Q299P 896A>C ORCA-IN 22 38020988 38020988 single base substitution A C upstream_gene_variant ORCA-IN 22 38027058 38027058 single base substitution G A downstream_gene_variant ORCA-IN 22 38027058 38027058 single base substitution G A exon_variant ORCA-IN 22 38027058 38027058 single base substitution G A missense_variant E407K 1219G>A ORCA-IN 22 38027058 38027058 single base substitution G A missense_variant E421K 1261G>A ORCA-IN 22 38027058 38027058 single base substitution G A missense_variant E461K 1381G>A ORCA-IN 22 38027058 38027058 single base substitution G A missense_variant E494K 1480G>A ORCA-IN 22 38027058 38027058 single base substitution G A missense_variant E511K 1531G>A ORCA-IN 22 38029077 38029077 single base substitution G C 3_prime_UTR_variant ORCA-IN 22 38029077 38029077 single base substitution G C downstream_gene_variant ORCA-IN 22 38034061 38034061 single base substitution C G downstream_gene_variant OV-AU 22 38001080 38001080 single base substitution A T upstream_gene_variant OV-AU 22 38002744 38002744 single base substitution T G upstream_gene_variant OV-AU 22 38008931 38008931 single base substitution G C 5_prime_UTR_variant OV-AU 22 38008931 38008931 single base substitution G C intron_variant OV-AU 22 38008931 38008931 single base substitution G C upstream_gene_variant OV-AU 22 38010282 38010282 single base substitution G T downstream_gene_variant OV-AU 22 38010282 38010282 single base substitution G T splice_donor_variant OV-AU 22 38010282 38010282 single base substitution G T upstream_gene_variant OV-AU 22 38010462 38010462 single base substitution G T downstream_gene_variant OV-AU 22 38010462 38010462 single base substitution G T intron_variant OV-AU 22 38010462 38010462 single base substitution G T upstream_gene_variant OV-AU 22 38014630 38014630 single base substitution C T downstream_gene_variant OV-AU 22 38014630 38014630 single base substitution C T intron_variant OV-AU 22 38014630 38014630 single base substitution C T upstream_gene_variant OV-AU 22 38021156 38021156 single base substitution C T downstream_gene_variant OV-AU 22 38021156 38021156 single base substitution C T intron_variant OV-AU 22 38021156 38021156 single base substitution C T upstream_gene_variant OV-AU 22 38024407 38024407 single base substitution A G downstream_gene_variant OV-AU 22 38024407 38024407 single base substitution A G intron_variant OV-AU 22 38024407 38024407 single base substitution A G upstream_gene_variant OV-AU 22 38026007 38026007 single base substitution G A downstream_gene_variant OV-AU 22 38026007 38026007 single base substitution G A splice_region_variant OV-AU 22 38026007 38026007 single base substitution G A upstream_gene_variant OV-AU 22 38028367 38028367 single base substitution C G downstream_gene_variant OV-AU 22 38028367 38028367 single base substitution C G intron_variant OV-AU 22 38032193 38032193 single base substitution G A downstream_gene_variant PACA-AU 22 38002864 38002864 single base substitution A T upstream_gene_variant PACA-AU 22 38008650 38008650 single base substitution G A 5_prime_UTR_variant PACA-AU 22 38008650 38008650 single base substitution G A intron_variant PACA-AU 22 38008650 38008650 single base substitution G A upstream_gene_variant PACA-AU 22 38011288 38011291 deletion of <=200bp ACTA - downstream_gene_variant PACA-AU 22 38011288 38011291 deletion of <=200bp ACTA - intron_variant PACA-AU 22 38011288 38011291 deletion of <=200bp ACTA - upstream_gene_variant PACA-AU 22 38018956 38018956 single base substitution C T downstream_gene_variant PACA-AU 22 38018956 38018956 single base substitution C T intron_variant PACA-AU 22 38018956 38018956 single base substitution C T upstream_gene_variant PACA-AU 22 38022387 38022387 single base substitution C T downstream_gene_variant PACA-AU 22 38022387 38022387 single base substitution C T exon_variant PACA-AU 22 38022387 38022387 single base substitution C T intron_variant PACA-AU 22 38022387 38022387 single base substitution C T upstream_gene_variant PACA-AU 22 38023612 38023612 single base substitution G T downstream_gene_variant PACA-AU 22 38023612 38023612 single base substitution G T intron_variant PACA-AU 22 38023612 38023612 single base substitution G T upstream_gene_variant PACA-AU 22 38028055 38028055 single base substitution C A downstream_gene_variant PACA-AU 22 38028055 38028055 single base substitution C A exon_variant PACA-AU 22 38028055 38028055 single base substitution C A missense_variant F440L 1320C>A PACA-AU 22 38028055 38028055 single base substitution C A missense_variant F454L 1362C>A PACA-AU 22 38028055 38028055 single base substitution C A missense_variant F494L 1482C>A PACA-AU 22 38028055 38028055 single base substitution C A missense_variant F527L 1581C>A PACA-AU 22 38028055 38028055 single base substitution C A missense_variant F544L 1632C>A PACA-CA 22 38004042 38004042 insertion of <=200bp - C upstream_gene_variant PACA-CA 22 38004240 38004240 single base substitution C G upstream_gene_variant PACA-CA 22 38004683 38004683 single base substitution G A 5_prime_UTR_variant PACA-CA 22 38004683 38004683 single base substitution G A upstream_gene_variant PACA-CA 22 38011768 38011768 deletion of <=200bp A - downstream_gene_variant PACA-CA 22 38011768 38011768 deletion of <=200bp A - intron_variant PACA-CA 22 38011768 38011768 deletion of <=200bp A - upstream_gene_variant PACA-CA 22 38012130 38012130 single base substitution T C downstream_gene_variant PACA-CA 22 38012130 38012130 single base substitution T C intron_variant PACA-CA 22 38012130 38012130 single base substitution T C upstream_gene_variant PACA-CA 22 38017481 38017481 single base substitution G A downstream_gene_variant PACA-CA 22 38017481 38017481 single base substitution G A intron_variant PACA-CA 22 38017481 38017481 single base substitution G A upstream_gene_variant PACA-CA 22 38018690 38018690 deletion of <=200bp A - downstream_gene_variant PACA-CA 22 38018690 38018690 deletion of <=200bp A - intron_variant PACA-CA 22 38018690 38018690 deletion of <=200bp A - upstream_gene_variant PACA-CA 22 38020802 38020802 single base substitution T C downstream_gene_variant PACA-CA 22 38020802 38020802 single base substitution T C exon_variant PACA-CA 22 38020802 38020802 single base substitution T C intron_variant PACA-CA 22 38020802 38020802 single base substitution T C upstream_gene_variant PACA-CA 22 38021892 38021892 single base substitution G A downstream_gene_variant PACA-CA 22 38021892 38021892 single base substitution G A exon_variant PACA-CA 22 38021892 38021892 single base substitution G A intron_variant PACA-CA 22 38021892 38021892 single base substitution G A synonymous_variant E270E 810G>A PACA-CA 22 38021892 38021892 single base substitution G A synonymous_variant E310E 930G>A PACA-CA 22 38021892 38021892 single base substitution G A synonymous_variant E343E 1029G>A PACA-CA 22 38021892 38021892 single base substitution G A synonymous_variant E360E 1080G>A PACA-CA 22 38021892 38021892 single base substitution G A upstream_gene_variant PACA-CA 22 38026112 38026112 single base substitution C A downstream_gene_variant PACA-CA 22 38026112 38026112 single base substitution C A exon_variant PACA-CA 22 38026112 38026112 single base substitution C A missense_variant D335E 1005C>A PACA-CA 22 38026112 38026112 single base substitution C A missense_variant D349E 1047C>A PACA-CA 22 38026112 38026112 single base substitution C A missense_variant D389E 1167C>A PACA-CA 22 38026112 38026112 single base substitution C A missense_variant D422E 1266C>A PACA-CA 22 38026112 38026112 single base substitution C A missense_variant D439E 1317C>A PACA-CA 22 38026112 38026112 single base substitution C A upstream_gene_variant PACA-CA 22 38028688 38028688 single base substitution C T downstream_gene_variant PACA-CA 22 38028688 38028688 single base substitution C T synonymous_variant F543F 1629C>T PACA-CA 22 38028688 38028688 single base substitution C T synonymous_variant F557F 1671C>T PACA-CA 22 38028688 38028688 single base substitution C T synonymous_variant F597F 1791C>T PACA-CA 22 38028688 38028688 single base substitution C T synonymous_variant F630F 1890C>T PACA-CA 22 38028688 38028688 single base substitution C T synonymous_variant F647F 1941C>T PACA-CA 22 38034335 38034335 single base substitution A C downstream_gene_variant PBCA-DE 22 38004671 38004675 deletion of <=200bp AGCTG - 5_prime_UTR_variant PBCA-DE 22 38004671 38004675 deletion of <=200bp AGCTG - upstream_gene_variant PBCA-DE 22 38026068 38026068 single base substitution C T downstream_gene_variant PBCA-DE 22 38026068 38026068 single base substitution C T exon_variant PBCA-DE 22 38026068 38026068 single base substitution C T missense_variant P321S 961C>T PBCA-DE 22 38026068 38026068 single base substitution C T missense_variant P335S 1003C>T PBCA-DE 22 38026068 38026068 single base substitution C T missense_variant P375S 1123C>T PBCA-DE 22 38026068 38026068 single base substitution C T missense_variant P408S 1222C>T PBCA-DE 22 38026068 38026068 single base substitution C T missense_variant P425S 1273C>T PBCA-DE 22 38026068 38026068 single base substitution C T upstream_gene_variant PBCA-DE 22 38032715 38032715 single base substitution C T downstream_gene_variant PRAD-CA 22 38012692 38012692 single base substitution C T downstream_gene_variant PRAD-CA 22 38012692 38012692 single base substitution C T intron_variant PRAD-CA 22 38012692 38012692 single base substitution C T upstream_gene_variant PRAD-UK 22 38001988 38001988 single base substitution G T upstream_gene_variant PRAD-UK 22 38029499 38029499 single base substitution G A 3_prime_UTR_variant PRAD-UK 22 38029499 38029499 single base substitution G A downstream_gene_variant PRAD-UK 22 38029663 38029663 single base substitution C T downstream_gene_variant PRAD-UK 22 38033141 38033141 single base substitution C T downstream_gene_variant PRAD-US 22 38028044 38028044 single base substitution C T downstream_gene_variant PRAD-US 22 38028044 38028044 single base substitution C T exon_variant PRAD-US 22 38028044 38028044 single base substitution C T missense_variant R437C 1309C>T PRAD-US 22 38028044 38028044 single base substitution C T missense_variant R451C 1351C>T PRAD-US 22 38028044 38028044 single base substitution C T missense_variant R491C 1471C>T PRAD-US 22 38028044 38028044 single base substitution C T missense_variant R524C 1570C>T PRAD-US 22 38028044 38028044 single base substitution C T missense_variant R541C 1621C>T PRAD-US 22 38028487 38028487 single base substitution A G downstream_gene_variant PRAD-US 22 38028487 38028487 single base substitution A G exon_variant PRAD-US 22 38028487 38028487 single base substitution A G missense_variant I505V 1513A>G PRAD-US 22 38028487 38028487 single base substitution A G missense_variant I519V 1555A>G PRAD-US 22 38028487 38028487 single base substitution A G missense_variant I559V 1675A>G PRAD-US 22 38028487 38028487 single base substitution A G missense_variant I592V 1774A>G PRAD-US 22 38028487 38028487 single base substitution A G missense_variant I609V 1825A>G RECA-EU 22 38009419 38009419 single base substitution C G intron_variant RECA-EU 22 38009419 38009419 single base substitution C G upstream_gene_variant SKCA-BR 22 38000624 38000624 single base substitution A C upstream_gene_variant SKCA-BR 22 38001628 38001628 single base substitution C T upstream_gene_variant SKCA-BR 22 38004280 38004280 single base substitution G A upstream_gene_variant SKCA-BR 22 38004651 38004663 deletion of <=200bp AAAAGCAGGCGGC - 5_prime_UTR_variant SKCA-BR 22 38004651 38004663 deletion of <=200bp AAAAGCAGGCGGC - upstream_gene_variant SKCA-BR 22 38005387 38005387 single base substitution A C intron_variant SKCA-BR 22 38005387 38005387 single base substitution A C upstream_gene_variant SKCA-BR 22 38005407 38005407 single base substitution A C intron_variant SKCA-BR 22 38005407 38005407 single base substitution A C upstream_gene_variant SKCA-BR 22 38006630 38006630 single base substitution T G exon_variant SKCA-BR 22 38006630 38006630 single base substitution T G intron_variant SKCA-BR 22 38006630 38006630 single base substitution T G upstream_gene_variant SKCA-BR 22 38006745 38006745 single base substitution T G intron_variant SKCA-BR 22 38006745 38006745 single base substitution T G upstream_gene_variant SKCA-BR 22 38008315 38008315 insertion of <=200bp - CA intron_variant SKCA-BR 22 38008315 38008315 insertion of <=200bp - CA upstream_gene_variant SKCA-BR 22 38008545 38008545 single base substitution A G 5_prime_UTR_variant SKCA-BR 22 38008545 38008545 single base substitution A G intron_variant SKCA-BR 22 38008545 38008545 single base substitution A G upstream_gene_variant SKCA-BR 22 38008550 38008550 single base substitution G A 5_prime_UTR_variant SKCA-BR 22 38008550 38008550 single base substitution G A intron_variant SKCA-BR 22 38008550 38008550 single base substitution G A upstream_gene_variant SKCA-BR 22 38008553 38008553 single base substitution C T 5_prime_UTR_variant SKCA-BR 22 38008553 38008553 single base substitution C T intron_variant SKCA-BR 22 38008553 38008553 single base substitution C T upstream_gene_variant SKCA-BR 22 38008561 38008561 single base substitution A G 5_prime_UTR_variant SKCA-BR 22 38008561 38008561 single base substitution A G intron_variant SKCA-BR 22 38008561 38008561 single base substitution A G upstream_gene_variant SKCA-BR 22 38008566 38008566 single base substitution C T 5_prime_UTR_variant SKCA-BR 22 38008566 38008566 single base substitution C T intron_variant SKCA-BR 22 38008566 38008566 single base substitution C T upstream_gene_variant SKCA-BR 22 38008574 38008574 single base substitution T C 5_prime_UTR_variant SKCA-BR 22 38008574 38008574 single base substitution T C intron_variant SKCA-BR 22 38008574 38008574 single base substitution T C upstream_gene_variant SKCA-BR 22 38008575 38008575 single base substitution G A 5_prime_UTR_variant SKCA-BR 22 38008575 38008575 single base substitution G A intron_variant SKCA-BR 22 38008575 38008575 single base substitution G A upstream_gene_variant SKCA-BR 22 38013605 38013605 single base substitution C T 3_prime_UTR_variant SKCA-BR 22 38013605 38013605 single base substitution C T downstream_gene_variant SKCA-BR 22 38013605 38013605 single base substitution C T exon_variant SKCA-BR 22 38013605 38013605 single base substitution C T intron_variant SKCA-BR 22 38013605 38013605 single base substitution C T upstream_gene_variant SKCA-BR 22 38016146 38016146 single base substitution C T downstream_gene_variant SKCA-BR 22 38016146 38016146 single base substitution C T exon_variant SKCA-BR 22 38016146 38016146 single base substitution C T intron_variant SKCA-BR 22 38016146 38016146 single base substitution C T upstream_gene_variant SKCA-BR 22 38016490 38016490 single base substitution T G downstream_gene_variant SKCA-BR 22 38016490 38016490 single base substitution T G intron_variant SKCA-BR 22 38016490 38016490 single base substitution T G upstream_gene_variant SKCA-BR 22 38020991 38020991 single base substitution C T downstream_gene_variant SKCA-BR 22 38020991 38020991 single base substitution C T exon_variant SKCA-BR 22 38020991 38020991 single base substitution C T intron_variant SKCA-BR 22 38020991 38020991 single base substitution C T missense_variant A210V 629C>T SKCA-BR 22 38020991 38020991 single base substitution C T missense_variant A250V 749C>T SKCA-BR 22 38020991 38020991 single base substitution C T missense_variant A283V 848C>T SKCA-BR 22 38020991 38020991 single base substitution C T missense_variant A300V 899C>T SKCA-BR 22 38020991 38020991 single base substitution C T upstream_gene_variant SKCA-BR 22 38022676 38022676 single base substitution C T downstream_gene_variant SKCA-BR 22 38022676 38022676 single base substitution C T exon_variant SKCA-BR 22 38022676 38022676 single base substitution C T intron_variant SKCA-BR 22 38022676 38022676 single base substitution C T upstream_gene_variant SKCA-BR 22 38026134 38026134 single base substitution C T downstream_gene_variant SKCA-BR 22 38026134 38026134 single base substitution C T exon_variant SKCA-BR 22 38026134 38026134 single base substitution C T missense_variant L343F 1027C>T SKCA-BR 22 38026134 38026134 single base substitution C T missense_variant L357F 1069C>T SKCA-BR 22 38026134 38026134 single base substitution C T missense_variant L397F 1189C>T SKCA-BR 22 38026134 38026134 single base substitution C T missense_variant L430F 1288C>T SKCA-BR 22 38026134 38026134 single base substitution C T missense_variant L447F 1339C>T SKCA-BR 22 38026134 38026134 single base substitution C T upstream_gene_variant SKCA-BR 22 38026319 38026319 single base substitution A C downstream_gene_variant SKCA-BR 22 38026319 38026319 single base substitution A C intron_variant SKCA-BR 22 38026319 38026319 single base substitution A C upstream_gene_variant SKCA-BR 22 38029947 38029947 single base substitution C T downstream_gene_variant SKCA-BR 22 38032709 38032709 single base substitution A G downstream_gene_variant SKCM-US 22 38010228 38010228 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant SKCM-US 22 38010228 38010228 single base substitution C T downstream_gene_variant SKCM-US 22 38010228 38010228 single base substitution C T exon_variant SKCM-US 22 38010228 38010228 single base substitution C T synonymous_variant L17L 51C>T SKCM-US 22 38010228 38010228 single base substitution C T synonymous_variant L25L 75C>T SKCM-US 22 38010228 38010228 single base substitution C T upstream_gene_variant SKCM-US 22 38016337 38016337 single base substitution C T downstream_gene_variant SKCM-US 22 38016337 38016337 single base substitution C T synonymous_variant I124I 372C>T SKCM-US 22 38016337 38016337 single base substitution C T synonymous_variant I132I 396C>T SKCM-US 22 38016337 38016337 single base substitution C T synonymous_variant I149I 447C>T SKCM-US 22 38016337 38016337 single base substitution C T synonymous_variant I59I 177C>T SKCM-US 22 38016337 38016337 single base substitution C T synonymous_variant I99I 297C>T SKCM-US 22 38016337 38016337 single base substitution C T upstream_gene_variant SKCM-US 22 38021006 38021006 single base substitution C T downstream_gene_variant SKCM-US 22 38021006 38021006 single base substitution C T exon_variant SKCM-US 22 38021006 38021006 single base substitution C T intron_variant SKCM-US 22 38021006 38021006 single base substitution C T missense_variant T215I 644C>T SKCM-US 22 38021006 38021006 single base substitution C T missense_variant T255I 764C>T SKCM-US 22 38021006 38021006 single base substitution C T missense_variant T288I 863C>T SKCM-US 22 38021006 38021006 single base substitution C T missense_variant T305I 914C>T SKCM-US 22 38021006 38021006 single base substitution C T upstream_gene_variant SKCM-US 22 38021897 38021897 single base substitution C G downstream_gene_variant SKCM-US 22 38021897 38021897 single base substitution C G exon_variant SKCM-US 22 38021897 38021897 single base substitution C G intron_variant SKCM-US 22 38021897 38021897 single base substitution C G missense_variant A272G 815C>G SKCM-US 22 38021897 38021897 single base substitution C G missense_variant A312G 935C>G SKCM-US 22 38021897 38021897 single base substitution C G missense_variant A345G 1034C>G SKCM-US 22 38021897 38021897 single base substitution C G missense_variant A362G 1085C>G SKCM-US 22 38021897 38021897 single base substitution C G upstream_gene_variant SKCM-US 22 38028015 38028015 single base substitution C T downstream_gene_variant SKCM-US 22 38028015 38028015 single base substitution C T exon_variant SKCM-US 22 38028015 38028015 single base substitution C T missense_variant P427L 1280C>T SKCM-US 22 38028015 38028015 single base substitution C T missense_variant P441L 1322C>T SKCM-US 22 38028015 38028015 single base substitution C T missense_variant P481L 1442C>T SKCM-US 22 38028015 38028015 single base substitution C T missense_variant P514L 1541C>T SKCM-US 22 38028015 38028015 single base substitution C T missense_variant P531L 1592C>T SKCM-US 22 38028043 38028043 single base substitution C T downstream_gene_variant SKCM-US 22 38028043 38028043 single base substitution C T exon_variant SKCM-US 22 38028043 38028043 single base substitution C T synonymous_variant F436F 1308C>T SKCM-US 22 38028043 38028043 single base substitution C T synonymous_variant F450F 1350C>T SKCM-US 22 38028043 38028043 single base substitution C T synonymous_variant F490F 1470C>T SKCM-US 22 38028043 38028043 single base substitution C T synonymous_variant F523F 1569C>T SKCM-US 22 38028043 38028043 single base substitution C T synonymous_variant F540F 1620C>T SKCM-US 22 38028055 38028055 single base substitution C T downstream_gene_variant SKCM-US 22 38028055 38028055 single base substitution C T exon_variant SKCM-US 22 38028055 38028055 single base substitution C T synonymous_variant F440F 1320C>T SKCM-US 22 38028055 38028055 single base substitution C T synonymous_variant F454F 1362C>T SKCM-US 22 38028055 38028055 single base substitution C T synonymous_variant F494F 1482C>T SKCM-US 22 38028055 38028055 single base substitution C T synonymous_variant F527F 1581C>T SKCM-US 22 38028055 38028055 single base substitution C T synonymous_variant F544F 1632C>T SKCM-US 22 38028516 38028516 single base substitution C T downstream_gene_variant SKCM-US 22 38028516 38028516 single base substitution C T exon_variant SKCM-US 22 38028516 38028516 single base substitution C T synonymous_variant P514P 1542C>T SKCM-US 22 38028516 38028516 single base substitution C T synonymous_variant P528P 1584C>T SKCM-US 22 38028516 38028516 single base substitution C T synonymous_variant P568P 1704C>T SKCM-US 22 38028516 38028516 single base substitution C T synonymous_variant P601P 1803C>T SKCM-US 22 38028516 38028516 single base substitution C T synonymous_variant P618P 1854C>T STAD-US 22 38014500 38014500 single base substitution G A downstream_gene_variant STAD-US 22 38014500 38014500 single base substitution G A exon_variant STAD-US 22 38014500 38014500 single base substitution G A intron_variant STAD-US 22 38014500 38014500 single base substitution G A missense_variant E101K 301G>A STAD-US 22 38014500 38014500 single base substitution G A missense_variant E11K 31G>A STAD-US 22 38014500 38014500 single base substitution G A missense_variant E76K 226G>A STAD-US 22 38014500 38014500 single base substitution G A missense_variant E84K 250G>A STAD-US 22 38014500 38014500 single base substitution G A upstream_gene_variant STAD-US 22 38016834 38016834 single base substitution G A downstream_gene_variant STAD-US 22 38016834 38016834 single base substitution G A missense_variant D115N 343G>A STAD-US 22 38016834 38016834 single base substitution G A missense_variant D140N 418G>A STAD-US 22 38016834 38016834 single base substitution G A missense_variant D148N 442G>A STAD-US 22 38016834 38016834 single base substitution G A missense_variant D165N 493G>A STAD-US 22 38016834 38016834 single base substitution G A missense_variant D75N 223G>A STAD-US 22 38016834 38016834 single base substitution G A upstream_gene_variant STAD-US 22 38016860 38016860 single base substitution C A downstream_gene_variant STAD-US 22 38016860 38016860 single base substitution C A synonymous_variant T123T 369C>A STAD-US 22 38016860 38016860 single base substitution C A synonymous_variant T148T 444C>A STAD-US 22 38016860 38016860 single base substitution C A synonymous_variant T156T 468C>A STAD-US 22 38016860 38016860 single base substitution C A synonymous_variant T173T 519C>A STAD-US 22 38016860 38016860 single base substitution C A synonymous_variant T83T 249C>A STAD-US 22 38016860 38016860 single base substitution C A upstream_gene_variant STAD-US 22 38019393 38019393 single base substitution C T downstream_gene_variant STAD-US 22 38019393 38019393 single base substitution C T exon_variant STAD-US 22 38019393 38019393 single base substitution C T synonymous_variant N150N 450C>T STAD-US 22 38019393 38019393 single base substitution C T synonymous_variant N190N 570C>T STAD-US 22 38019393 38019393 single base substitution C T synonymous_variant N215N 645C>T STAD-US 22 38019393 38019393 single base substitution C T synonymous_variant N223N 669C>T STAD-US 22 38019393 38019393 single base substitution C T synonymous_variant N240N 720C>T STAD-US 22 38019393 38019393 single base substitution C T upstream_gene_variant STAD-US 22 38021822 38021822 single base substitution T C downstream_gene_variant STAD-US 22 38021822 38021822 single base substitution T C exon_variant STAD-US 22 38021822 38021822 single base substitution T C intron_variant STAD-US 22 38021822 38021822 single base substitution T C missense_variant L247P 740T>C STAD-US 22 38021822 38021822 single base substitution T C missense_variant L287P 860T>C STAD-US 22 38021822 38021822 single base substitution T C missense_variant L320P 959T>C STAD-US 22 38021822 38021822 single base substitution T C missense_variant L337P 1010T>C STAD-US 22 38021822 38021822 single base substitution T C upstream_gene_variant STAD-US 22 38021856 38021856 single base substitution C T downstream_gene_variant STAD-US 22 38021856 38021856 single base substitution C T exon_variant STAD-US 22 38021856 38021856 single base substitution C T intron_variant STAD-US 22 38021856 38021856 single base substitution C T synonymous_variant G258G 774C>T STAD-US 22 38021856 38021856 single base substitution C T synonymous_variant G298G 894C>T STAD-US 22 38021856 38021856 single base substitution C T synonymous_variant G331G 993C>T STAD-US 22 38021856 38021856 single base substitution C T synonymous_variant G348G 1044C>T STAD-US 22 38021856 38021856 single base substitution C T upstream_gene_variant STAD-US 22 38021940 38021940 single base substitution C G downstream_gene_variant STAD-US 22 38021940 38021940 single base substitution C G exon_variant STAD-US 22 38021940 38021940 single base substitution C G intron_variant STAD-US 22 38021940 38021940 single base substitution C G missense_variant D286E 858C>G STAD-US 22 38021940 38021940 single base substitution C G missense_variant D326E 978C>G STAD-US 22 38021940 38021940 single base substitution C G missense_variant D359E 1077C>G STAD-US 22 38021940 38021940 single base substitution C G missense_variant D376E 1128C>G STAD-US 22 38021940 38021940 single base substitution C G upstream_gene_variant STAD-US 22 38026101 38026101 single base substitution G A downstream_gene_variant STAD-US 22 38026101 38026101 single base substitution G A exon_variant STAD-US 22 38026101 38026101 single base substitution G A missense_variant G332S 994G>A STAD-US 22 38026101 38026101 single base substitution G A missense_variant G346S 1036G>A STAD-US 22 38026101 38026101 single base substitution G A missense_variant G386S 1156G>A STAD-US 22 38026101 38026101 single base substitution G A missense_variant G419S 1255G>A STAD-US 22 38026101 38026101 single base substitution G A missense_variant G436S 1306G>A STAD-US 22 38026101 38026101 single base substitution G A upstream_gene_variant STAD-US 22 38027048 38027048 single base substitution C T downstream_gene_variant STAD-US 22 38027048 38027048 single base substitution C T exon_variant STAD-US 22 38027048 38027048 single base substitution C T synonymous_variant P403P 1209C>T STAD-US 22 38027048 38027048 single base substitution C T synonymous_variant P417P 1251C>T STAD-US 22 38027048 38027048 single base substitution C T synonymous_variant P457P 1371C>T STAD-US 22 38027048 38027048 single base substitution C T synonymous_variant P490P 1470C>T STAD-US 22 38027048 38027048 single base substitution C T synonymous_variant P507P 1521C>T STAD-US 22 38028140 38028140 single base substitution C T downstream_gene_variant STAD-US 22 38028140 38028140 single base substitution C T exon_variant STAD-US 22 38028140 38028140 single base substitution C T missense_variant R469C 1405C>T STAD-US 22 38028140 38028140 single base substitution C T missense_variant R483C 1447C>T STAD-US 22 38028140 38028140 single base substitution C T missense_variant R523C 1567C>T STAD-US 22 38028140 38028140 single base substitution C T missense_variant R556C 1666C>T STAD-US 22 38028140 38028140 single base substitution C T missense_variant R573C 1717C>T THCA-US 22 38013055 38013055 deletion of <=200bp G - downstream_gene_variant THCA-US 22 38013055 38013055 deletion of <=200bp G - exon_variant THCA-US 22 38013055 38013055 deletion of <=200bp G - frameshift_variant K85 THCA-US 22 38013055 38013055 deletion of <=200bp G - intron_variant THCA-US 22 38013055 38013055 deletion of <=200bp G - upstream_gene_variant UCEC-US 22 38014488 38014488 single base substitution C T downstream_gene_variant UCEC-US 22 38014488 38014488 single base substitution C T exon_variant UCEC-US 22 38014488 38014488 single base substitution C T intron_variant UCEC-US 22 38014488 38014488 single base substitution C T missense_variant R72W 214C>T UCEC-US 22 38014488 38014488 single base substitution C T missense_variant R7W 19C>T UCEC-US 22 38014488 38014488 single base substitution C T missense_variant R80W 238C>T UCEC-US 22 38014488 38014488 single base substitution C T missense_variant R97W 289C>T UCEC-US 22 38014488 38014488 single base substitution C T upstream_gene_variant UCEC-US 22 38014499 38014499 single base substitution C T downstream_gene_variant UCEC-US 22 38014499 38014499 single base substitution C T exon_variant UCEC-US 22 38014499 38014499 single base substitution C T intron_variant UCEC-US 22 38014499 38014499 single base substitution C T synonymous_variant D100D 300C>T UCEC-US 22 38014499 38014499 single base substitution C T synonymous_variant D10D 30C>T UCEC-US 22 38014499 38014499 single base substitution C T synonymous_variant D75D 225C>T UCEC-US 22 38014499 38014499 single base substitution C T synonymous_variant D83D 249C>T UCEC-US 22 38014499 38014499 single base substitution C T upstream_gene_variant UCEC-US 22 38017631 38017631 single base substitution C A downstream_gene_variant UCEC-US 22 38017631 38017631 single base substitution C A exon_variant UCEC-US 22 38017631 38017631 single base substitution C A synonymous_variant A106A 318C>A UCEC-US 22 38017631 38017631 single base substitution C A synonymous_variant A146A 438C>A UCEC-US 22 38017631 38017631 single base substitution C A synonymous_variant A171A 513C>A UCEC-US 22 38017631 38017631 single base substitution C A synonymous_variant A179A 537C>A UCEC-US 22 38017631 38017631 single base substitution C A synonymous_variant A196A 588C>A UCEC-US 22 38017631 38017631 single base substitution C A upstream_gene_variant UCEC-US 22 38017654 38017654 single base substitution C T downstream_gene_variant UCEC-US 22 38017654 38017654 single base substitution C T exon_variant UCEC-US 22 38017654 38017654 single base substitution C T missense_variant P114L 341C>T UCEC-US 22 38017654 38017654 single base substitution C T missense_variant P154L 461C>T UCEC-US 22 38017654 38017654 single base substitution C T missense_variant P179L 536C>T UCEC-US 22 38017654 38017654 single base substitution C T missense_variant P187L 560C>T UCEC-US 22 38017654 38017654 single base substitution C T missense_variant P204L 611C>T UCEC-US 22 38017654 38017654 single base substitution C T upstream_gene_variant UCEC-US 22 38019360 38019360 single base substitution G A downstream_gene_variant UCEC-US 22 38019360 38019360 single base substitution G A exon_variant UCEC-US 22 38019360 38019360 single base substitution G A synonymous_variant S139S 417G>A UCEC-US 22 38019360 38019360 single base substitution G A synonymous_variant S179S 537G>A UCEC-US 22 38019360 38019360 single base substitution G A synonymous_variant S204S 612G>A UCEC-US 22 38019360 38019360 single base substitution G A synonymous_variant S212S 636G>A UCEC-US 22 38019360 38019360 single base substitution G A synonymous_variant S229S 687G>A UCEC-US 22 38019360 38019360 single base substitution G A upstream_gene_variant UCEC-US 22 38027038 38027038 single base substitution C T downstream_gene_variant UCEC-US 22 38027038 38027038 single base substitution C T exon_variant UCEC-US 22 38027038 38027038 single base substitution C T missense_variant P400L 1199C>T UCEC-US 22 38027038 38027038 single base substitution C T missense_variant P414L 1241C>T UCEC-US 22 38027038 38027038 single base substitution C T missense_variant P454L 1361C>T UCEC-US 22 38027038 38027038 single base substitution C T missense_variant P487L 1460C>T UCEC-US 22 38027038 38027038 single base substitution C T missense_variant P504L 1511C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-BR-8382-01 COSM4103965 c.468C>A p.T156T Substitution - coding silent 22:37620853-37620853 + TCGA-D8-A1XQ-01 COSM3842636 c.574G>A p.A192T Substitution - Missense 22:37621661-37621661 + Gp5D COSM3150538 c.619C>T p.R207W Substitution - Missense 22:37623336-37623336 + TCGA-FS-A1ZW-06 COSM3554196 c.1034C>G p.A345G Substitution - Missense 22:37625890-37625890 + TCGA-BR-8487-01 COSM1416152 c.250G>A p.E84K Substitution - Missense 22:37618493-37618493 + Pat_63_B COSM5859321 c.1204C>T p.P402S Substitution - Missense 22:37630043-37630043 + C658 COSM4443443 c.323C>T p.S108L Substitution - Missense 22:37620257-37620257 + TCGA-AP-A056-01 COSM1034023 c.636G>A p.S212S Substitution - coding silent 22:37623353-37623353 + B86-Tumor COSM1751863 c.492G>A p.P164P Substitution - coding silent 22:37620877-37620877 + Au2 COSM5599607 c.744C>T p.L248L Substitution - coding silent 22:37623461-37623461 + OSCC-GB_00700111 COSM4890745 c.845A>C p.Q282P Substitution - Missense 22:37624981-37624981 + AOCS-055-1-7 COSM4137436 c.1161G>A p.S387S Substitution - coding silent 22:37630000-37630000 + LC_C8 COSM1190444 c.685A>G p.T229A Substitution - Missense 22:37623402-37623402 + HCT15 COSM1682254 c.1742C>T p.P581L Substitution - Missense 22:37632448-37632448 + SC_9008 COSM5549771 c.1415C>T p.A472V Substitution - Missense 22:37630986-37630986 + AOCS-119-3-9 COSM4137434 c.128+1G>T p.? Unknown 22:37614275-37614275 + Pat_11_A COSM5859322 c.1618G>A p.V540M Substitution - Missense 22:37632085-37632085 + HCC107 COSM1616435 c.258C>T p.G86G Substitution - coding silent 22:37618501-37618501 + T3064 COSM3150556 c.1446_1447insC p.R485fs*35 Insertion - Frameshift 22:37631017-37631018 + DN14011 COSM5962306 c.1826G>A p.R609H Substitution - Missense 22:37632617-37632617 + PCSI_0015_Pa_P_526 COSM4963286 c.1029G>A p.E343E Substitution - coding silent 22:37625885-37625885 + 1N31-VS-1T31 COSM4974371 c.778C>T p.R260W Substitution - Missense 22:37623579-37623579 + PCSI_0087_Pa_P COSM3379341 c.1266C>A p.D422E Substitution - Missense 22:37630105-37630105 + 2492702 COSM5599605 c.60C>T p.P20P Substitution - coding silent 22:37614206-37614206 + TCGA-A6-3809-01 COSM5087125 c.1489C>T p.L497L Substitution - coding silent 22:37631060-37631060 + GHE0645 COSM5714656 c.1866C>A p.N622K Substitution - Missense 22:37632657-37632657 + 2492703 COSM5599605 c.60C>T p.P20P Substitution - coding silent 22:37614206-37614206 + TCGA-F4-6570-01 COSM1416155 c.1430A>G p.H477R Substitution - Missense 22:37631001-37631001 + TCGA-AA-A010-01 COSM281359 c.502A>C p.I168L Substitution - Missense 22:37620887-37620887 + TCGA-AA-3818-01 COSM293941 c.1254C>T p.S418S Substitution - coding silent 22:37630093-37630093 + 2217539 COSM4404599 c.1803C>T p.P601P Substitution - coding silent 22:37632509-37632509 + TCGA-06-0128 COSM2149465 c.458A>G p.D153G Substitution - Missense 22:37620843-37620843 + sysucc-1370T COSM5471486 c.441C>T p.S147S Substitution - coding silent 22:37620826-37620826 + B16-Tumor COSM1751864 c.1492G>A p.A498T Substitution - Missense 22:37631063-37631063 + ICGC_MB71 COSM3670260 c.1222C>T p.P408S Substitution - Missense 22:37630061-37630061 + 2492714 COSM5606578 c.1654C>T p.P552S Substitution - Missense 22:37632121-37632121 + Gp2D COSM3150538 c.619C>T p.R207W Substitution - Missense 22:37623336-37623336 + C13 COSM1416152 c.250G>A p.E84K Substitution - Missense 22:37618493-37618493 + TCGA-BH-A18G-01 COSM4615679 c.1890delC p.P632fs*>8 Deletion - Frameshift 22:37632681-37632681 + TCGA-C8-A26X-01 COSM1484225 c.203C>T p.T68M Substitution - Missense 22:37616996-37616996 + T2940 COSM4686844 c.804T>C p.S268S Substitution - coding silent 22:37623605-37623605 + 98 COSM5015731 c.1787T>C p.L596P Substitution - Missense 22:37632493-37632493 + 2492712 COSM5606578 c.1654C>T p.P552S Substitution - Missense 22:37632121-37632121 + TCGA-B5-A0JY-01 COSM1034020 c.249C>T p.D83D Substitution - coding silent 22:37618492-37618492 + 2492711 COSM5606578 c.1654C>T p.P552S Substitution - Missense 22:37632121-37632121 + BCB109T COSM4798773 c.561C>G p.P187P Substitution - coding silent 22:37621648-37621648 + T98G COSM5712976 c.1116T>C p.P372P Substitution - coding silent 22:37629484-37629484 + TCGA-MY-A5BD-01 COSM4855696 c.736G>T p.E246* Substitution - Nonsense 22:37623453-37623453 + TCGA-06-0128-01 COSM2149465 c.458A>G p.D153G Substitution - Missense 22:37620843-37620843 + B16 COSM1751864 c.1492G>A p.A498T Substitution - Missense 22:37631063-37631063 + 8068600 COSM3785663 c.1581C>A p.F527L Substitution - Missense 22:37632048-37632048 + CCK81 COSM3150556 c.1446_1447insC p.R485fs*35 Insertion - Frameshift 22:37631017-37631018 + pfg053T COSM4753080 c.889C>G p.L297V Substitution - Missense 22:37625025-37625025 + TCGA-D8-A1XQ-01 COSM3842637 c.1534A>G p.I512V Substitution - Missense 22:37632001-37632001 + TCGA-RP-A694-06 COSM4894536 c.396C>T p.I132I Substitution - coding silent 22:37620330-37620330 + pfg008T COSM1641541 c.1026C>T p.G342G Substitution - coding silent 22:37625882-37625882 + TCGA-HC-A632-01 COSM4392882 c.1774A>G p.I592V Substitution - Missense 22:37632480-37632480 + TCGA-DK-A1A5-01 COSM419562 c.115G>A p.E39K Substitution - Missense 22:37614261-37614261 + T2269 COSM1034023 c.636G>A p.S212S Substitution - coding silent 22:37623353-37623353 + T3094 COSM4686843 c.397G>A p.A133T Substitution - Missense 22:37620331-37620331 + C91 COSM4444859 c.1876G>A p.D626N Substitution - Missense 22:37632667-37632667 + TCGA-D5-5539-01 COSM1416153 c.355C>T p.L119F Substitution - Missense 22:37620289-37620289 + TCGA-D9-A6EC-06 COSM4404599 c.1803C>T p.P601P Substitution - coding silent 22:37632509-37632509 + TCGA-FG-7634-01 COSM3972964 c.265C>T p.R89C Substitution - Missense 22:37618508-37618508 + SC_9008 COSM5194307 c.686C>T p.T229M Substitution - Missense 22:37623403-37623403 + Au8 COSM5606578 c.1654C>T p.P552S Substitution - Missense 22:37632121-37632121 + TCGA-ER-A19F-06 COSM3554199 c.1581C>T p.F527F Substitution - coding silent 22:37632048-37632048 + TCGA-D3-A3MV-06 COSM3554195 c.863C>T p.T288I Substitution - Missense 22:37624999-37624999 + 2492700 COSM5599605 c.60C>T p.P20P Substitution - coding silent 22:37614206-37614206 + TCGA-LP-A4AV-01 COSM4825308 c.1058C>T p.S353L Substitution - Missense 22:37625914-37625914 + MO_1012 COSM5559549 c.1485C>T p.L495L Substitution - coding silent 22:37631056-37631056 + YULAN COSM1714377 c.172C>T p.P58S Substitution - Missense 22:37616965-37616965 + sysucc-311T COSM5465478 c.277G>A p.E93K Substitution - Missense 22:37618520-37618520 + TCGA-04-1367-01 COSM70887 c.1086G>A p.M362I Substitution - Missense 22:37625942-37625942 + TCGA-AP-A0LM-01 COSM1034024 c.1460C>T p.P487L Substitution - Missense 22:37631031-37631031 + 2492702 COSM5599607 c.744C>T p.L248L Substitution - coding silent 22:37623461-37623461 + SCC-15 COSM4597226 c.232G>A p.G78S Substitution - Missense 22:37618475-37618475 + HCT-15 COSM1682254 c.1742C>T p.P581L Substitution - Missense 22:37632448-37632448 + B86 COSM1751863 c.492G>A p.P164P Substitution - coding silent 22:37620877-37620877 + TCGA-AA-3821-01 COSM5111666 c.253G>A p.V85M Substitution - Missense 22:37618496-37618496 + TCGA-A6-6653-01 COSM33565 c.715G>A p.G239S Substitution - Missense 22:37623432-37623432 + TCGA-B0-4703-01 COSM3363637 c.1451C>T p.P484L Substitution - Missense 22:37631022-37631022 + T276 COSM4686845 c.1233G>A p.Q411Q Substitution - coding silent 22:37630072-37630072 + HCC1395 COSM32792 c.1450C>G p.P484A Substitution - Missense 22:37631021-37631021 + TCGA-D7-A4YV-01 COSM4103971 c.1470C>T p.P490P Substitution - coding silent 22:37631041-37631041 + TCGA-CK-4951-01 COSM5151280 c.224A>G p.K75R Substitution - Missense 22:37618467-37618467 + 2113174 COSM4167343 c.1160C>A p.S387* Substitution - Nonsense 22:37629999-37629999 + TCGA-AP-A056-01 COSM1034019 c.238C>T p.R80W Substitution - Missense 22:37618481-37618481 + 46T COSM3150559 c.1480G>A p.E494K Substitution - Missense 22:37631051-37631051 + Au2 COSM5599605 c.60C>T p.P20P Substitution - coding silent 22:37614206-37614206 + BB22T COSM33565 c.715G>A p.G239S Substitution - Missense 22:37623432-37623432 + 3N21-VS-3T21 COSM4979376 c.988G>A p.A330T Substitution - Missense 22:37625844-37625844 + TCGA-AA-3710-01 COSM5105262 c.586C>A p.L196I Substitution - Missense 22:37621673-37621673 + DLD1 COSM1682254 c.1742C>T p.P581L Substitution - Missense 22:37632448-37632448 + PD18748a COSM5771012 c.516G>C p.E172D Substitution - Missense 22:37620901-37620901 + 2_RESISTANT COSM1484225 c.203C>T p.T68M Substitution - Missense 22:37616996-37616996 + 2492713 COSM5606578 c.1654C>T p.P552S Substitution - Missense 22:37632121-37632121 + CSCC-41-T COSM4563160 c.960G>T p.L320L Substitution - coding silent 22:37625816-37625816 + LUAD-NYU1027 COSM368373 c.1809G>C p.K603N Substitution - Missense 22:37632515-37632515 + TCGA-B5-A0JV-01 COSM1034021 c.537C>A p.A179A Substitution - coding silent 22:37621624-37621624 + BCM723T COSM4103970 c.1255G>A p.G419S Substitution - Missense 22:37630094-37630094 + TCGA-HF-7132-01 COSM4103972 c.1666C>T p.R556C Substitution - Missense 22:37632133-37632133 + TCGA-CG-4306-01 COSM4103966 c.669C>T p.N223N Substitution - coding silent 22:37623386-37623386 + TCGA-D3-A2JA-06 COSM3554193 c.75C>T p.L25L Substitution - coding silent 22:37614221-37614221 + TCGA-BT-A3PJ-01 COSM3800192 c.222G>C p.M74I Substitution - Missense 22:37618465-37618465 + TCGA-B7-5816-01 COSM4103968 c.993C>T p.G331G Substitution - coding silent 22:37625849-37625849 + TCGA-J9-A52C-01 COSM4877190 c.1570C>T p.R524C Substitution - Missense 22:37632037-37632037 + OSCC-GB_00460111 COSM3150559 c.1480G>A p.E494K Substitution - Missense 22:37631051-37631051 + TCGA-AZ-4315-01 COSM1416152 c.250G>A p.E84K Substitution - Missense 22:37618493-37618493 + TCGA-HU-8602-01 COSM3150534 c.442G>A p.D148N Substitution - Missense 22:37620827-37620827 + TCGA-EE-A3J5-06 COSM3554198 c.1569C>T p.F523F Substitution - coding silent 22:37632036-37632036 + PCSI_0087_Pa_X COSM3379341 c.1266C>A p.D422E Substitution - Missense 22:37630105-37630105 + 2492701 COSM5599605 c.60C>T p.P20P Substitution - coding silent 22:37614206-37614206 + ESO-669 COSM1253202 c.504C>A p.I168I Substitution - coding silent 22:37620889-37620889 + SNU-C4 COSM4615679 c.1890delC p.P632fs*>8 Deletion - Frameshift 22:37632681-37632681 + TCGA-BR-7716-01 COSM4103969 c.1077C>G p.D359E Substitution - Missense 22:37625933-37625933 + 2492701 COSM5599607 c.744C>T p.L248L Substitution - coding silent 22:37623461-37623461 + Patient_5_Relapse COSM5415045 c.988G>T p.A330S Substitution - Missense 22:37625844-37625844 + TCGA-A8-A09Z-01 COSM5202418 c.1349delC p.R452fs*64 Deletion - Frameshift 22:37630920-37630920 + 2492703 COSM5599607 c.744C>T p.L248L Substitution - coding silent 22:37623461-37623461 + TCGA-BT-A20R-01 COSM1308147 c.1027G>A p.E343K Substitution - Missense 22:37625883-37625883 + HCC107T COSM1616435 c.258C>T p.G86G Substitution - coding silent 22:37618501-37618501 + CLL169 COSM1291244 c.1090C>T p.L364L Substitution - coding silent 22:37625946-37625946 + TCGA-D3-A51J-06 COSM3554197 c.1541C>T p.P514L Substitution - Missense 22:37632008-37632008 + TCGA-04-1649-01 COSM1327234 c.851A>G p.N284S Substitution - Missense 22:37624987-37624987 + TCGA-A3-3346-01 COSM478944 c.127G>A p.G43R Substitution - Missense 22:37614273-37614273 + 2492700 COSM5599607 c.744C>T p.L248L Substitution - coding silent 22:37623461-37623461 + TCGA-HU-A4G9-01 COSM4103967 c.959T>C p.L320P Substitution - Missense 22:37625815-37625815 + LUAD-5V8LT COSM402272 c.28C>G p.L10V Substitution - Missense 22:37608888-37608888 + BCB109T COSM4798773 c.561C>G p.P187P Substitution - coding silent 22:37621648-37621648 + BCM723T COSM4103970 c.1255G>A p.G419S Substitution - Missense 22:37630094-37630094 + TCGA-CH-5739-01 COSM3673276 c.127G>T p.G43W Substitution - Missense 22:37614273-37614273 + TCGA-D1-A16J-01 COSM1034022 c.560C>T p.P187L Substitution - Missense 22:37621647-37621647 + TCGA-BR-4201-01 COSM4103970 c.1255G>A p.G419S Substitution - Missense 22:37630094-37630094 + TCGA-AA-3663-01 COSM1416154 c.1019G>A p.R340H Substitution - Missense 22:37625875-37625875 + T55 COSM4686842 c.395T>C p.I132T Substitution - Missense 22:37620329-37620329 + T3610 COSM1034023 c.636G>A p.S212S Substitution - coding silent 22:37623353-37623353 + Patient_1_Relapse COSM3150562 c.1571G>A p.R524H Substitution - Missense 22:37632038-37632038 + 49M COSM5591102 c.1521C>T p.I507I Substitution - coding silent 22:37631092-37631092 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.499158 22q13.31 606004

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer AAAGAAGCA - InFrameDeletion p.K140_Q142delKKQ c.417_425delAAAGAAGCA 22 38016358 GBM A G Missense p.D153G c.458A>G 22 38016850 GBM A G Missense p.I592V c.1774A>G 22 38028487 PRAD C A Synonymous p.A179A c.537C>A 22 38017631 UCEC C A Synonymous p.I168I c.504C>A 22 38016896 ESCA C G Missense p.A345G c.1034C>G 22 38021897 CM C G Missense p.I132M c.396C>G 22 38016337 HNSC C G Missense p.P484A c.1450C>G 22 38027028 BRCA C G Nonsense p.S590* c.1769C>G 22 38028482 BRCA C T Missense p.P187L c.560C>T 22 38017654 UCEC C T Missense p.P20L c.59C>T 22 38010212 CM C T Missense p.P484L c.1451C>T 22 38027029 RCCC C T Missense p.P631S c.1891C>T 22 38028689 CM C T Missense p.R89C c.265C>T 22 38014515 LGG C T Missense p.T288I c.863C>T 22 38021006 CM C T Missense p.T68M c.203C>T 22 38013003 BRCA C T Synonymous p.F523F c.1569C>T 22 38028043 CM C T Synonymous p.F527F c.1581C>T 22 38028055 CM C T Synonymous p.G331G c.993C>T 22 38021856 STAD C T Synonymous p.G342G c.1026C>T 22 38021889 STAD C T Synonymous p.L25L c.75C>T 22 38010228 CM C T Synonymous p.L361L c.1083C>T 22 38021946 CM C T Synonymous p.L364L c.1090C>T 22 38021953 CLL C T Synonymous p.N223N c.669C>T 22 38019393 STAD C T Synonymous p.S355S c.1065C>T 22 38021928 CM C T Synonymous p.S418S c.1254C>T 22 38026100 COREAD C T Synonymous p.S538S c.1614C>T 22 38028088 STAD C T Synonymous p.Y253Y c.759C>T 22 38019567 CM G A Missense p.E246K c.736G>A 22 38019460 BRCA G A Missense p.E343K c.1027G>A 22 38021890 BLCA G A Missense p.E39K c.115G>A 22 38010268 BLCA G A Missense p.G239S c.715G>A 22 38019439 BRCA G A Missense p.G419S c.1255G>A 22 38026101 STAD G A Missense p.G43R c.127G>A 22 38010280 RCCC G A Missense p.M362I c.1086G>A 22 38021949 OV G A Synonymous p.L548L c.1644G>A 22 38028118 HNSC G A Synonymous p.S108S c.324G>A 22 38016265 BRCA G C Missense p.M74I c.222G>C 22 38014472 BLCA G T Synonymous p.A410A c.1230G>T 22 38026076 LUAD T C Synonymous p.Y102Y c.306T>C 22 38016247 HNSC