Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 17 79577266 79577266 + Silent SNP C C T TCGA-OR-A5L2-01A-11D-A30A-10 TCGA-OR-A5L2-10A-01D-A30A-10 g.chr17:79577266C>T c.405G>A c.(403-405)ttG>ttA p.L135L BLCA 17 79534448 79534448 + Missense_Mutation SNP G G C TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 g.chr17:79534448G>C c.1561C>G c.(1561-1563)Ctg>Gtg p.L521V BLCA 17 79536043 79536043 + Splice_Site SNP T T C TCGA-ZF-A9RC-01A-11D-A38G-08 TCGA-ZF-A9RC-10A-01D-A38J-08 g.chr17:79536043T>C c.1448A>G c.(1447-1449)cAg>cGg p.Q483R BLCA 17 79567371 79567371 + Missense_Mutation SNP C C G TCGA-YF-AA3M-01A-11D-A42E-08 TCGA-YF-AA3M-10D-01D-A42H-08 g.chr17:79567371C>G c.917G>C c.(916-918)cGg>cCg p.R306P BLCA 17 79580442 79580442 + Silent SNP G G A TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 g.chr17:79580442G>A c.288C>T c.(286-288)ggC>ggT p.G96G BLCA 17 79580458 79580458 + Missense_Mutation SNP G G A TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 g.chr17:79580458G>A c.272C>T c.(271-273)aCg>aTg p.T91M BLCA 17 79589209 79589209 + Silent SNP G G C TCGA-ZF-AA53-01A-11D-A391-08 TCGA-ZF-AA53-10A-01D-A394-08 g.chr17:79589209G>C c.192C>G c.(190-192)ctC>ctG p.L64L BRCA 17 79526293 79526293 + Silent SNP T T G TCGA-C8-A1HJ-01A-11D-A13L-09 TCGA-C8-A1HJ-10A-01D-A13O-09 g.chr17:79526293T>G c.1819A>C c.(1819-1821)Agg>Cgg p.R607R BRCA 17 79526303 79526303 + Silent SNP G G A TCGA-AR-A24N-01A-11D-A167-09 TCGA-AR-A24N-10A-01D-A167-09 g.chr17:79526303G>A c.1809C>T c.(1807-1809)tgC>tgT p.C603C BRCA 17 79534473 79534473 + Missense_Mutation SNP G G T TCGA-A2-A3XU-01A-12D-A22X-09 TCGA-A2-A3XU-10A-01D-A22X-09 g.chr17:79534473G>T c.1536C>A c.(1534-1536)ttC>ttA p.F512L BRCA 17 79536048 79536048 + Missense_Mutation SNP C C G TCGA-D8-A27H-01A-11D-A16D-09 TCGA-D8-A27H-10A-01D-A16D-09 g.chr17:79536048C>G c.1443G>C c.(1441-1443)gaG>gaC p.E481D BRCA 17 79556051 79556051 + Silent SNP C C T TCGA-BH-A0HF-01A-11W-A071-09 TCGA-BH-A0HF-10A-01W-A071-09 g.chr17:79556051C>T c.1200G>A c.(1198-1200)ttG>ttA p.L400L BRCA 17 79564290 79564290 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 g.chr17:79564290A>G c.974T>C c.(973-975)gTc>gCc p.V325A CESC 17 79564302 79564302 + Missense_Mutation SNP C C T TCGA-C5-A7CK-01A-11D-A32I-09 TCGA-C5-A7CK-10A-01D-A32I-09 g.chr17:79564302C>T c.962G>A c.(961-963)cGa>cAa p.R321Q CESC 17 79564319 79564319 + Silent SNP G G A TCGA-EA-A3QD-01A-32D-A22X-09 TCGA-EA-A3QD-10A-01D-A22X-09 g.chr17:79564319G>A c.945C>T c.(943-945)ctC>ctT p.L315L CHOL 17 79526288 79526288 + Silent SNP G G T TCGA-3X-AAVC-01A-21D-A417-09 TCGA-3X-AAVC-10A-01D-A41A-09 g.chr17:79526288G>T c.1824C>A c.(1822-1824)acC>acA p.T608T CHOL 17 79563165 79563165 + Missense_Mutation SNP T T G TCGA-W5-AA39-01A-11D-A417-09 TCGA-W5-AA39-10A-01D-A41A-09 g.chr17:79563165T>G c.1097A>C c.(1096-1098)aAg>aCg p.K366T COAD 17 79564291 79564291 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr17:79564291C>T c.973G>A c.(973-975)Gtc>Atc p.V325I COAD 17 79589240 79589240 + Missense_Mutation SNP C C T TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr17:79589240C>T c.161G>A c.(160-162)gGa>gAa p.G54E COADREAD 17 79564278 79564278 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr17:79564278C>T c.986G>A c.(985-987)cGa>cAa p.R329Q COADREAD 17 79564291 79564291 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr17:79564291C>T c.973G>A c.(973-975)Gtc>Atc p.V325I COADREAD 17 79589240 79589240 + Missense_Mutation SNP C C T TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr17:79589240C>T c.161G>A c.(160-162)gGa>gAa p.G54E DLBC 17 79532602 79532602 + Missense_Mutation SNP C C T TCGA-FF-8043-01A-11D-2210-10 TCGA-FF-8043-10A-01D-2210-10 g.chr17:79532602C>T c.1598G>A c.(1597-1599)cGg>cAg p.R533Q ESCA 17 79564312 79564312 + Missense_Mutation SNP C C T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 g.chr17:79564312C>T c.952G>A c.(952-954)Gaa>Aaa p.E318K GBM 17 79556036 79556036 + Silent SNP G G A TCGA-06-5858-01A-01D-1696-08 TCGA-06-5858-10A-01D-1696-08 g.chr17:79556036G>A c.1215C>T c.(1213-1215)gaC>gaT p.D405D GBMLGG 17 79526328 79526328 + Missense_Mutation SNP G G A TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 g.chr17:79526328G>A c.1784C>T c.(1783-1785)cCa>cTa p.P595L GBMLGG 17 79556036 79556036 + Silent SNP G G A TCGA-06-5858-01A-01D-1696-08 TCGA-06-5858-10A-01D-1696-08 g.chr17:79556036G>A c.1215C>T c.(1213-1215)gaC>gaT p.D405D HNSC 17 79526391 79526391 + Missense_Mutation SNP C C A TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 g.chr17:79526391C>A c.1721G>T c.(1720-1722)gGc>gTc p.G574V HNSC 17 79532588 79532588 + Frame_Shift_Del DEL C C - TCGA-HD-7832-01A-11D-2129-08 TCGA-HD-7832-10A-01D-2129-08 g.chr17:79532588delC c.1612delG c.(1612-1614)gagfs p.E538fs HNSC 17 79534533 79534533 + Missense_Mutation SNP C C A TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 g.chr17:79534533C>A c.1476G>T c.(1474-1476)ttG>ttT p.L492F HNSC 17 79536083 79536083 + Missense_Mutation SNP G G A TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr17:79536083G>A c.1408C>T c.(1408-1410)Cca>Tca p.P470S HNSC 17 79563226 79563226 + Missense_Mutation SNP C C G TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 g.chr17:79563226C>G c.1036G>C c.(1036-1038)Gac>Cac p.D346H HNSC 17 79564324 79564324 + Missense_Mutation SNP C C A TCGA-CV-7242-01A-11D-2012-08 TCGA-CV-7242-10A-01D-2013-08 g.chr17:79564324C>A c.940G>T c.(940-942)Gac>Tac p.D314Y HNSC 17 79589283 79589283 + Nonsense_Mutation SNP G G A TCGA-CV-7242-01A-11D-2012-08 TCGA-CV-7242-10A-01D-2013-08 g.chr17:79589283G>A c.118C>T c.(118-120)Caa>Taa p.Q40* KIPAN 17 79589205 79589205 + Missense_Mutation SNP A A T TCGA-B2-3924-01A-02D-1386-10 TCGA-B2-3924-11A-01D-1251-10 g.chr17:79589205A>T c.196T>A c.(196-198)Ttg>Atg p.L66M KIRC 17 79589205 79589205 + Missense_Mutation SNP A A T TCGA-B2-3924-01A-02D-1386-10 TCGA-B2-3924-11A-01D-1251-10 g.chr17:79589205A>T c.196T>A c.(196-198)Ttg>Atg p.L66M LGG 17 79526328 79526328 + Missense_Mutation SNP G G A TCGA-FG-6692-01A-11D-1893-08 TCGA-FG-6692-10A-01D-1893-08 g.chr17:79526328G>A c.1784C>T c.(1783-1785)cCa>cTa p.P595L LIHC 17 79536080 79536080 + Missense_Mutation SNP A A C TCGA-DD-AACA-01A-11D-A40R-10 TCGA-DD-AACA-10A-01D-A40U-10 g.chr17:79536080A>C c.1411T>G c.(1411-1413)Ttt>Gtt p.F471V LIHC 17 79556001 79556011 + Frame_Shift_Del DEL CTGCTAGACTC CTGCTAGACTC - TCGA-5C-A9VG-01A-11D-A36X-10 TCGA-5C-A9VG-10A-01D-A370-10 g.chr17:79556001_79556011delCTGCTAGACTC c.1240_1250delGAGTCTAGCAG c.(1240-1251)gagtctagcagtfs p.ESSS414fs LIHC 17 79589216 79589216 + Missense_Mutation SNP T T A TCGA-ED-A4XI-01A-11D-A25V-10 TCGA-ED-A4XI-10A-01D-A25V-10 g.chr17:79589216T>A c.185A>T c.(184-186)aAa>aTa p.K62I LUAD 17 79556026 79556026 + Missense_Mutation SNP G G A TCGA-91-A4BC-01A-11D-A24D-08 TCGA-91-A4BC-10A-01D-A24F-08 g.chr17:79556026G>A c.1225C>T c.(1225-1227)Ctt>Ttt p.L409F LUAD 17 79556065 79556065 + Missense_Mutation SNP G G A TCGA-69-7978-01A-11D-2184-08 TCGA-69-7978-10A-01D-2184-08 g.chr17:79556065G>A c.1186C>T c.(1186-1188)Cgt>Tgt p.R396C LUAD 17 79563220 79563220 + Frame_Shift_Del DEL G G - TCGA-50-6590-01A-12D-1855-08 TCGA-50-6590-11A-01D-1855-08 g.chr17:79563220delG c.1042delC c.(1042-1044)cagfs p.Q348fs LUAD 17 79563247 79563247 + Missense_Mutation SNP C C T TCGA-64-5815-01A-01D-1625-08 TCGA-64-5815-10A-01D-1625-08 g.chr17:79563247C>T c.1015G>A c.(1015-1017)Gaa>Aaa p.E339K LUAD 17 79573732 79573732 + Missense_Mutation SNP G G C TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 g.chr17:79573732G>C c.639C>G c.(637-639)atC>atG p.I213M LUAD 17 79580446 79580446 + Missense_Mutation SNP G G A TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 g.chr17:79580446G>A c.284C>T c.(283-285)cCg>cTg p.P95L LUAD 17 79580490 79580490 + Silent SNP C C A TCGA-17-Z015-01A-01W-0746-08 TCGA-17-Z015-11A-01W-0746-08 g.chr17:79580490C>A c.240G>T c.(238-240)tcG>tcT p.S80S LUSC 17 79534552 79534552 + Missense_Mutation SNP T T C TCGA-60-2726-01A-01D-1522-08 TCGA-60-2726-11A-01D-1522-08 g.chr17:79534552T>C c.1457A>G c.(1456-1458)cAt>cGt p.H486R LUSC 17 79596825 79596825 + Missense_Mutation SNP G G A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr17:79596825G>A c.22C>T c.(22-24)Cgt>Tgt p.R8C OV 17 79580491 79580491 + Missense_Mutation SNP G G C TCGA-61-2102-01A-01W-0722-08 TCGA-61-2102-11A-01W-0723-08 g.chr17:79580491G>C c.239C>G c.(238-240)tCg>tGg p.S80W PAAD 17 79556050 79556050 + Silent SNP G G A TCGA-3A-A9IU-01A-11D-A397-08 TCGA-3A-A9IU-10A-01D-A39A-08 g.chr17:79556050G>A c.1201C>T c.(1201-1203)Ctg>Ttg p.L401L PRAD 17 79536061 79536061 + Missense_Mutation SNP T T C TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr17:79536061T>C c.1430A>G c.(1429-1431)gAt>gGt p.D477G PRAD 17 79536065 79536065 + Missense_Mutation SNP G G A TCGA-EJ-A65J-01A-11D-A30X-08 TCGA-EJ-A65J-10A-01D-A30X-08 g.chr17:79536065G>A c.1426C>T c.(1426-1428)Cgg>Tgg p.R476W PRAD 17 79577247 79577247 + Missense_Mutation SNP C C T TCGA-QU-A6IP-01A-11D-A31L-08 TCGA-QU-A6IP-10A-01D-A31J-08 g.chr17:79577247C>T c.424G>A c.(424-426)Gtc>Atc p.V142I READ 17 79564278 79564278 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr17:79564278C>T c.986G>A c.(985-987)cGa>cAa p.R329Q SKCM 17 79536077 79536077 + Missense_Mutation SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr17:79536077G>A c.1414C>T c.(1414-1416)Cct>Tct p.P472S SKCM 17 79536116 79536116 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 g.chr17:79536116C>T c.1375G>A c.(1375-1377)Gat>Aat p.D459N SKCM 17 79536121 79536121 + Missense_Mutation SNP G G A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr17:79536121G>A c.1370C>T c.(1369-1371)cCc>cTc p.P457L SKCM 17 79539070 79539070 + Silent SNP G G A TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 g.chr17:79539070G>A c.1326C>T c.(1324-1326)ccC>ccT p.P442P SKCM 17 79556066 79556066 + Silent SNP G G A TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 g.chr17:79556066G>A c.1185C>T c.(1183-1185)gtC>gtT p.V395V SKCM 17 79571669 79571670 + Missense_Mutation DNP GG GG CA TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 g.chr17:79571669_79571670GG>CA c.738_739CC>TG c.(736-741)aaCCag>aaTGag p.Q247E SKCM 17 79573742 79573742 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 g.chr17:79573742G>A c.629C>T c.(628-630)cCg>cTg p.P210L SKCM 17 79573743 79573743 + Missense_Mutation SNP G G A TCGA-GN-A26A-06A-11D-A19A-08 TCGA-GN-A26A-10A-01D-A19A-08 g.chr17:79573743G>A c.628C>T c.(628-630)Ccg>Tcg p.P210S SKCM 17 79573813 79573813 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 g.chr17:79573813G>A c.558C>T c.(556-558)atC>atT p.I186I SKCM 17 79580495 79580495 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr17:79580495G>A c.235C>T c.(235-237)Ccc>Tcc p.P79S

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 17 79618100 79618100 single base substitution C T upstream_gene_variant BLCA-CN 17 79620194 79620194 single base substitution G C upstream_gene_variant BLCA-US 17 79534448 79534448 single base substitution G C 3_prime_UTR_variant BLCA-US 17 79534448 79534448 single base substitution G C exon_variant BLCA-US 17 79534448 79534448 single base substitution G C missense_variant L360V 1078C>G BLCA-US 17 79534448 79534448 single base substitution G C missense_variant L521V 1561C>G BLCA-US 17 79534448 79534448 single base substitution G C missense_variant L54V 160C>G BLCA-US 17 79534448 79534448 single base substitution G C missense_variant L89V 265C>G BLCA-US 17 79534448 79534448 single base substitution G C synonymous_variant L100L 300C>G BLCA-US 17 79534448 79534448 single base substitution G C upstream_gene_variant BLCA-US 17 79580442 79580442 single base substitution G A 5_prime_UTR_variant BLCA-US 17 79580442 79580442 single base substitution G A exon_variant BLCA-US 17 79580442 79580442 single base substitution G A synonymous_variant G96G 288C>T BLCA-US 17 79580442 79580442 single base substitution G A upstream_gene_variant BLCA-US 17 79612041 79612041 single base substitution C T intron_variant BLCA-US 17 79620333 79620333 single base substitution C T upstream_gene_variant BOCA-FR 17 79519513 79519513 single base substitution G T downstream_gene_variant BOCA-FR 17 79606624 79606624 single base substitution T G intron_variant BOCA-FR 17 79606624 79606624 single base substitution T G upstream_gene_variant BRCA-EU 17 79519349 79519349 deletion of <=200bp C - downstream_gene_variant BRCA-EU 17 79520040 79520040 single base substitution G C downstream_gene_variant BRCA-EU 17 79520968 79520968 deletion of <=200bp A - downstream_gene_variant BRCA-EU 17 79521447 79521447 single base substitution T C downstream_gene_variant BRCA-EU 17 79522388 79522388 single base substitution T C downstream_gene_variant BRCA-EU 17 79523796 79523796 single base substitution C T downstream_gene_variant BRCA-EU 17 79524451 79524451 single base substitution A C 3_prime_UTR_variant BRCA-EU 17 79524451 79524451 single base substitution A C downstream_gene_variant BRCA-EU 17 79525037 79525037 single base substitution G A 3_prime_UTR_variant BRCA-EU 17 79525037 79525037 single base substitution G A downstream_gene_variant BRCA-EU 17 79527179 79527179 single base substitution C A downstream_gene_variant BRCA-EU 17 79527179 79527179 single base substitution C A intron_variant BRCA-EU 17 79528751 79528751 single base substitution G A downstream_gene_variant BRCA-EU 17 79528751 79528751 single base substitution G A intron_variant BRCA-EU 17 79528751 79528751 single base substitution G A upstream_gene_variant BRCA-EU 17 79528753 79528753 single base substitution G A downstream_gene_variant BRCA-EU 17 79528753 79528753 single base substitution G A intron_variant BRCA-EU 17 79528753 79528753 single base substitution G A upstream_gene_variant BRCA-EU 17 79529877 79529877 single base substitution G A 3_prime_UTR_variant BRCA-EU 17 79529877 79529877 single base substitution G A downstream_gene_variant BRCA-EU 17 79529877 79529877 single base substitution G A intron_variant BRCA-EU 17 79529877 79529877 single base substitution G A upstream_gene_variant BRCA-EU 17 79530254 79530254 single base substitution C G 3_prime_UTR_variant BRCA-EU 17 79530254 79530254 single base substitution C G downstream_gene_variant BRCA-EU 17 79530254 79530254 single base substitution C G intron_variant BRCA-EU 17 79530254 79530254 single base substitution C G upstream_gene_variant BRCA-EU 17 79531389 79531389 single base substitution A T 3_prime_UTR_variant BRCA-EU 17 79531389 79531389 single base substitution A T downstream_gene_variant BRCA-EU 17 79531389 79531389 single base substitution A T intron_variant BRCA-EU 17 79531389 79531389 single base substitution A T upstream_gene_variant BRCA-EU 17 79533218 79533218 single base substitution C T intron_variant BRCA-EU 17 79533634 79533634 single base substitution T C 5_prime_UTR_variant BRCA-EU 17 79533634 79533634 single base substitution T C intron_variant BRCA-EU 17 79533634 79533634 single base substitution T C upstream_gene_variant BRCA-EU 17 79534085 79534085 single base substitution T A intron_variant BRCA-EU 17 79534085 79534085 single base substitution T A upstream_gene_variant BRCA-EU 17 79534310 79534310 single base substitution A C intron_variant BRCA-EU 17 79534310 79534310 single base substitution A C upstream_gene_variant BRCA-EU 17 79534642 79534642 single base substitution G A intron_variant BRCA-EU 17 79534642 79534642 single base substitution G A upstream_gene_variant BRCA-EU 17 79536575 79536575 single base substitution A G intron_variant BRCA-EU 17 79536575 79536575 single base substitution A G upstream_gene_variant BRCA-EU 17 79537297 79537297 single base substitution C G intron_variant BRCA-EU 17 79537297 79537297 single base substitution C G upstream_gene_variant BRCA-EU 17 79537567 79537567 single base substitution G A intron_variant BRCA-EU 17 79537567 79537567 single base substitution G A upstream_gene_variant BRCA-EU 17 79540548 79540548 single base substitution G A intron_variant BRCA-EU 17 79540548 79540548 single base substitution G A upstream_gene_variant BRCA-EU 17 79540710 79540710 single base substitution C T intron_variant BRCA-EU 17 79540710 79540710 single base substitution C T upstream_gene_variant BRCA-EU 17 79542384 79542384 single base substitution C A intron_variant BRCA-EU 17 79542384 79542384 single base substitution C A upstream_gene_variant BRCA-EU 17 79543213 79543213 single base substitution C T intron_variant BRCA-EU 17 79543213 79543213 single base substitution C T upstream_gene_variant BRCA-EU 17 79543412 79543412 single base substitution G T intron_variant BRCA-EU 17 79543412 79543412 single base substitution G T upstream_gene_variant BRCA-EU 17 79543527 79543527 single base substitution T G intron_variant BRCA-EU 17 79543527 79543527 single base substitution T G upstream_gene_variant BRCA-EU 17 79543772 79543772 single base substitution A T intron_variant BRCA-EU 17 79543772 79543772 single base substitution A T upstream_gene_variant BRCA-EU 17 79545614 79545614 single base substitution G C intron_variant BRCA-EU 17 79546032 79546032 single base substitution G A intron_variant BRCA-EU 17 79547816 79547816 single base substitution T C intron_variant BRCA-EU 17 79547935 79547935 single base substitution G A intron_variant BRCA-EU 17 79548749 79548749 single base substitution C G intron_variant BRCA-EU 17 79551489 79551489 single base substitution T C downstream_gene_variant BRCA-EU 17 79551489 79551489 single base substitution T C intron_variant BRCA-EU 17 79553214 79553214 single base substitution G T downstream_gene_variant BRCA-EU 17 79553214 79553214 single base substitution G T intron_variant BRCA-EU 17 79553540 79553540 single base substitution G A downstream_gene_variant BRCA-EU 17 79553540 79553540 single base substitution G A intron_variant BRCA-EU 17 79553793 79553793 single base substitution C T downstream_gene_variant BRCA-EU 17 79553793 79553793 single base substitution C T intron_variant BRCA-EU 17 79553806 79553806 single base substitution C A downstream_gene_variant BRCA-EU 17 79553806 79553806 single base substitution C A intron_variant BRCA-EU 17 79554404 79554443 multiple base substitution (>=2bp and <=200bp) CAATCTTGGCTCATTGCAAGCTCTGCCTCCCAGGTTTACA CGATCTTAATGCAAGCTCCGCCTCCCAGGTTCACG downstream_gene_variant BRCA-EU 17 79554404 79554443 multiple base substitution (>=2bp and <=200bp) CAATCTTGGCTCATTGCAAGCTCTGCCTCCCAGGTTTACA CGATCTTAATGCAAGCTCCGCCTCCCAGGTTCACG intron_variant BRCA-EU 17 79554458 79554458 single base substitution C A downstream_gene_variant BRCA-EU 17 79554458 79554458 single base substitution C A intron_variant BRCA-EU 17 79558037 79558037 single base substitution C T intron_variant BRCA-EU 17 79561079 79561079 single base substitution C T intron_variant BRCA-EU 17 79562474 79562474 single base substitution T G intron_variant BRCA-EU 17 79565031 79565031 single base substitution G C intron_variant BRCA-EU 17 79565031 79565031 single base substitution G C upstream_gene_variant BRCA-EU 17 79565792 79565792 single base substitution G A intron_variant BRCA-EU 17 79565792 79565792 single base substitution G A upstream_gene_variant BRCA-EU 17 79567399 79567399 single base substitution C T 3_prime_UTR_variant BRCA-EU 17 79567399 79567399 single base substitution C T downstream_gene_variant BRCA-EU 17 79567399 79567399 single base substitution C T missense_variant D136N 406G>A BRCA-EU 17 79567399 79567399 single base substitution C T missense_variant D297N 889G>A BRCA-EU 17 79567399 79567399 single base substitution C T upstream_gene_variant BRCA-EU 17 79567827 79567827 single base substitution C T downstream_gene_variant BRCA-EU 17 79567827 79567827 single base substitution C T intron_variant BRCA-EU 17 79567827 79567827 single base substitution C T upstream_gene_variant BRCA-EU 17 79568649 79568649 single base substitution G C downstream_gene_variant BRCA-EU 17 79568649 79568649 single base substitution G C intron_variant BRCA-EU 17 79568649 79568649 single base substitution G C upstream_gene_variant BRCA-EU 17 79571738 79571738 single base substitution C A 3_prime_UTR_variant BRCA-EU 17 79571738 79571738 single base substitution C A downstream_gene_variant BRCA-EU 17 79571738 79571738 single base substitution C A exon_variant BRCA-EU 17 79571738 79571738 single base substitution C A missense_variant D224Y 670G>T BRCA-EU 17 79571738 79571738 single base substitution C A missense_variant D63Y 187G>T BRCA-EU 17 79572448 79572448 single base substitution G C downstream_gene_variant BRCA-EU 17 79572448 79572448 single base substitution G C intron_variant BRCA-EU 17 79573570 79573570 single base substitution C T downstream_gene_variant BRCA-EU 17 79573570 79573570 single base substitution C T intron_variant BRCA-EU 17 79575796 79575796 single base substitution G C 3_prime_UTR_variant BRCA-EU 17 79575796 79575796 single base substitution G C downstream_gene_variant BRCA-EU 17 79575796 79575796 single base substitution G C exon_variant BRCA-EU 17 79575796 79575796 single base substitution G C intron_variant BRCA-EU 17 79575796 79575796 single base substitution G C missense_variant S163C 488C>G BRCA-EU 17 79575796 79575796 single base substitution G C missense_variant S2C 5C>G BRCA-EU 17 79577545 79577545 single base substitution C G downstream_gene_variant BRCA-EU 17 79577545 79577545 single base substitution C G intron_variant BRCA-EU 17 79577545 79577545 single base substitution C G upstream_gene_variant BRCA-EU 17 79577576 79577576 single base substitution C G downstream_gene_variant BRCA-EU 17 79577576 79577576 single base substitution C G intron_variant BRCA-EU 17 79577576 79577576 single base substitution C G upstream_gene_variant BRCA-EU 17 79580380 79580380 single base substitution T A 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 17 79580380 79580380 single base substitution T A exon_variant BRCA-EU 17 79580380 79580380 single base substitution T A missense_variant Q117L 350A>T BRCA-EU 17 79580380 79580380 single base substitution T A upstream_gene_variant BRCA-EU 17 79580574 79580574 single base substitution G A intron_variant BRCA-EU 17 79580574 79580574 single base substitution G A upstream_gene_variant BRCA-EU 17 79580716 79580716 single base substitution G A intron_variant BRCA-EU 17 79580716 79580716 single base substitution G A upstream_gene_variant BRCA-EU 17 79581204 79581204 single base substitution G T intron_variant BRCA-EU 17 79581204 79581204 single base substitution G T upstream_gene_variant BRCA-EU 17 79581801 79581801 single base substitution G T intron_variant BRCA-EU 17 79581801 79581801 single base substitution G T upstream_gene_variant BRCA-EU 17 79581916 79581916 single base substitution A T intron_variant BRCA-EU 17 79581916 79581916 single base substitution A T upstream_gene_variant BRCA-EU 17 79583819 79583819 single base substitution G A intron_variant BRCA-EU 17 79583819 79583819 single base substitution G A upstream_gene_variant BRCA-EU 17 79583849 79583849 single base substitution G A intron_variant BRCA-EU 17 79583849 79583849 single base substitution G A upstream_gene_variant BRCA-EU 17 79584251 79584251 single base substitution T A intron_variant BRCA-EU 17 79584251 79584251 single base substitution T A upstream_gene_variant BRCA-EU 17 79584276 79584276 deletion of <=200bp G - intron_variant BRCA-EU 17 79584276 79584276 deletion of <=200bp G - upstream_gene_variant BRCA-EU 17 79587819 79587819 single base substitution C T intron_variant BRCA-EU 17 79588927 79588927 single base substitution G A intron_variant BRCA-EU 17 79589989 79589989 single base substitution G C intron_variant BRCA-EU 17 79590005 79590005 single base substitution G C intron_variant BRCA-EU 17 79590045 79590045 single base substitution T A intron_variant BRCA-EU 17 79590395 79590395 single base substitution G A intron_variant BRCA-EU 17 79591631 79591631 single base substitution G C intron_variant BRCA-EU 17 79592129 79592129 single base substitution C A intron_variant BRCA-EU 17 79593008 79593008 single base substitution C G intron_variant BRCA-EU 17 79594204 79594204 single base substitution C G intron_variant BRCA-EU 17 79594804 79594804 single base substitution A G intron_variant BRCA-EU 17 79595614 79595614 single base substitution C G intron_variant BRCA-EU 17 79595684 79595684 single base substitution A T intron_variant BRCA-EU 17 79598134 79598134 single base substitution G C intron_variant BRCA-EU 17 79599483 79599483 single base substitution T G downstream_gene_variant BRCA-EU 17 79599483 79599483 single base substitution T G intron_variant BRCA-EU 17 79599496 79599496 single base substitution G A downstream_gene_variant BRCA-EU 17 79599496 79599496 single base substitution G A intron_variant BRCA-EU 17 79599526 79599526 single base substitution G T downstream_gene_variant BRCA-EU 17 79599526 79599526 single base substitution G T intron_variant BRCA-EU 17 79599609 79599609 single base substitution G A downstream_gene_variant BRCA-EU 17 79599609 79599609 single base substitution G A intron_variant BRCA-EU 17 79601459 79601459 single base substitution T C downstream_gene_variant BRCA-EU 17 79601459 79601459 single base substitution T C intron_variant BRCA-EU 17 79601661 79601661 single base substitution G T downstream_gene_variant BRCA-EU 17 79601661 79601661 single base substitution G T intron_variant BRCA-EU 17 79602773 79602773 single base substitution A G downstream_gene_variant BRCA-EU 17 79602773 79602773 single base substitution A G intron_variant BRCA-EU 17 79604154 79604154 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 17 79604154 79604154 single base substitution G A intron_variant BRCA-EU 17 79604154 79604154 single base substitution G A upstream_gene_variant BRCA-EU 17 79604279 79604279 single base substitution C T intron_variant BRCA-EU 17 79604279 79604279 single base substitution C T upstream_gene_variant BRCA-EU 17 79604513 79604513 single base substitution G C intron_variant BRCA-EU 17 79604513 79604513 single base substitution G C upstream_gene_variant BRCA-EU 17 79604611 79604611 single base substitution G A intron_variant BRCA-EU 17 79604611 79604611 single base substitution G A upstream_gene_variant BRCA-EU 17 79606106 79606106 single base substitution G C intron_variant BRCA-EU 17 79606106 79606106 single base substitution G C upstream_gene_variant BRCA-EU 17 79606192 79606192 single base substitution A T intron_variant BRCA-EU 17 79606192 79606192 single base substitution A T upstream_gene_variant BRCA-EU 17 79606420 79606420 single base substitution G C intron_variant BRCA-EU 17 79606420 79606420 single base substitution G C upstream_gene_variant BRCA-EU 17 79607743 79607743 single base substitution G T intron_variant BRCA-EU 17 79607743 79607743 single base substitution G T upstream_gene_variant BRCA-EU 17 79613099 79613099 single base substitution G C intron_variant BRCA-EU 17 79613477 79613477 single base substitution G A intron_variant BRCA-EU 17 79613654 79613654 single base substitution C T intron_variant BRCA-EU 17 79614851 79614851 single base substitution C T intron_variant BRCA-EU 17 79614863 79614863 single base substitution C G intron_variant BRCA-EU 17 79615096 79615096 single base substitution C T intron_variant BRCA-EU 17 79615190 79615190 single base substitution G T intron_variant BRCA-EU 17 79616163 79616163 single base substitution G T upstream_gene_variant BRCA-EU 17 79616591 79616591 single base substitution T C upstream_gene_variant BRCA-EU 17 79617141 79617141 single base substitution C T upstream_gene_variant BRCA-EU 17 79618670 79618670 single base substitution C G upstream_gene_variant BRCA-EU 17 79619284 79619284 single base substitution C T upstream_gene_variant BRCA-EU 17 79620404 79620404 single base substitution G A upstream_gene_variant BRCA-FR 17 79537297 79537297 single base substitution C G intron_variant BRCA-FR 17 79537297 79537297 single base substitution C G upstream_gene_variant BRCA-FR 17 79537567 79537567 single base substitution G A intron_variant BRCA-FR 17 79537567 79537567 single base substitution G A upstream_gene_variant BRCA-FR 17 79542384 79542384 single base substitution C A intron_variant BRCA-FR 17 79542384 79542384 single base substitution C A upstream_gene_variant BRCA-FR 17 79546032 79546032 single base substitution G A intron_variant BRCA-FR 17 79555159 79555159 single base substitution G C exon_variant BRCA-FR 17 79555159 79555159 single base substitution G C intron_variant BRCA-FR 17 79563405 79563405 single base substitution G A intron_variant BRCA-FR 17 79571512 79571512 single base substitution A C downstream_gene_variant BRCA-FR 17 79571512 79571512 single base substitution A C intron_variant BRCA-FR 17 79584251 79584251 single base substitution T A intron_variant BRCA-FR 17 79584251 79584251 single base substitution T A upstream_gene_variant BRCA-FR 17 79590005 79590005 single base substitution G C intron_variant BRCA-FR 17 79619284 79619284 single base substitution C T upstream_gene_variant BRCA-UK 17 79523796 79523796 single base substitution C T downstream_gene_variant BRCA-UK 17 79528751 79528751 single base substitution G A downstream_gene_variant BRCA-UK 17 79528751 79528751 single base substitution G A intron_variant BRCA-UK 17 79528751 79528751 single base substitution G A upstream_gene_variant BRCA-UK 17 79543527 79543527 single base substitution T G intron_variant BRCA-UK 17 79543527 79543527 single base substitution T G upstream_gene_variant BRCA-UK 17 79598134 79598134 single base substitution G C intron_variant BRCA-UK 17 79599609 79599609 single base substitution G A downstream_gene_variant BRCA-UK 17 79599609 79599609 single base substitution G A intron_variant BRCA-UK 17 79602290 79602290 single base substitution G A downstream_gene_variant BRCA-UK 17 79602290 79602290 single base substitution G A intron_variant BRCA-UK 17 79604870 79604870 single base substitution G A intron_variant BRCA-UK 17 79604870 79604870 single base substitution G A upstream_gene_variant BRCA-UK 17 79605220 79605220 single base substitution G C intron_variant BRCA-UK 17 79605220 79605220 single base substitution G C upstream_gene_variant BRCA-UK 17 79616163 79616163 single base substitution G T upstream_gene_variant BRCA-US 17 79526293 79526293 single base substitution T G 3_prime_UTR_variant BRCA-US 17 79526293 79526293 single base substitution T G downstream_gene_variant BRCA-US 17 79526293 79526293 single base substitution T G exon_variant BRCA-US 17 79526293 79526293 single base substitution T G synonymous_variant R607R 1819A>C BRCA-US 17 79526303 79526303 single base substitution G A 3_prime_UTR_variant BRCA-US 17 79526303 79526303 single base substitution G A downstream_gene_variant BRCA-US 17 79526303 79526303 single base substitution G A exon_variant BRCA-US 17 79526303 79526303 single base substitution G A synonymous_variant C603C 1809C>T BRCA-US 17 79534473 79534473 single base substitution G T 3_prime_UTR_variant BRCA-US 17 79534473 79534473 single base substitution G T exon_variant BRCA-US 17 79534473 79534473 single base substitution G T missense_variant F351L 1053C>A BRCA-US 17 79534473 79534473 single base substitution G T missense_variant F45L 135C>A BRCA-US 17 79534473 79534473 single base substitution G T missense_variant F512L 1536C>A BRCA-US 17 79534473 79534473 single base substitution G T missense_variant F80L 240C>A BRCA-US 17 79534473 79534473 single base substitution G T missense_variant S92Y 275C>A BRCA-US 17 79534473 79534473 single base substitution G T upstream_gene_variant BRCA-US 17 79536048 79536048 single base substitution C G 3_prime_UTR_variant BRCA-US 17 79536048 79536048 single base substitution C G exon_variant BRCA-US 17 79536048 79536048 single base substitution C G missense_variant E14D 42G>C BRCA-US 17 79536048 79536048 single base substitution C G missense_variant E20D 60G>C BRCA-US 17 79536048 79536048 single base substitution C G missense_variant E320D 960G>C BRCA-US 17 79536048 79536048 single base substitution C G missense_variant E481D 1443G>C BRCA-US 17 79536048 79536048 single base substitution C G missense_variant E49D 147G>C BRCA-US 17 79536048 79536048 single base substitution C G upstream_gene_variant BRCA-US 17 79556051 79556051 single base substitution C T 3_prime_UTR_variant BRCA-US 17 79556051 79556051 single base substitution C T exon_variant BRCA-US 17 79556051 79556051 single base substitution C T synonymous_variant L239L 717G>A BRCA-US 17 79556051 79556051 single base substitution C T synonymous_variant L400L 1200G>A BRCA-US 17 79564290 79564290 single base substitution A G 3_prime_UTR_variant BRCA-US 17 79564290 79564290 single base substitution A G exon_variant BRCA-US 17 79564290 79564290 single base substitution A G missense_variant V164A 491T>C BRCA-US 17 79564290 79564290 single base substitution A G missense_variant V325A 974T>C BRCA-US 17 79612316 79612316 insertion of <=200bp - G intron_variant BTCA-JP 17 79519288 79519288 single base substitution C T downstream_gene_variant BTCA-JP 17 79526510 79526510 single base substitution T C downstream_gene_variant BTCA-JP 17 79526510 79526510 single base substitution T C intron_variant BTCA-JP 17 79563182 79563182 single base substitution G A 3_prime_UTR_variant BTCA-JP 17 79563182 79563182 single base substitution G A exon_variant BTCA-JP 17 79563182 79563182 single base substitution G A synonymous_variant D199D 597C>T BTCA-JP 17 79563182 79563182 single base substitution G A synonymous_variant D360D 1080C>T BTCA-JP 17 79612339 79612339 single base substitution C T intron_variant BTCA-JP 17 79614664 79614664 single base substitution A T intron_variant BTCA-JP 17 79614725 79614725 single base substitution C T intron_variant CESC-US 17 79564302 79564302 single base substitution C T 3_prime_UTR_variant CESC-US 17 79564302 79564302 single base substitution C T exon_variant CESC-US 17 79564302 79564302 single base substitution C T missense_variant R160Q 479G>A CESC-US 17 79564302 79564302 single base substitution C T missense_variant R321Q 962G>A CESC-US 17 79564319 79564319 single base substitution G A 3_prime_UTR_variant CESC-US 17 79564319 79564319 single base substitution G A exon_variant CESC-US 17 79564319 79564319 single base substitution G A synonymous_variant L154L 462C>T CESC-US 17 79564319 79564319 single base substitution G A synonymous_variant L315L 945C>T CESC-US 17 79613521 79613521 single base substitution C T intron_variant CLLE-ES 17 79582819 79582819 single base substitution G C intron_variant CLLE-ES 17 79582819 79582819 single base substitution G C upstream_gene_variant CLLE-ES 17 79594442 79594442 single base substitution T G intron_variant CLLE-ES 17 79611655 79611655 single base substitution C G intron_variant COAD-US 17 79571667 79571667 single base substitution C T 3_prime_UTR_variant COAD-US 17 79571667 79571667 single base substitution C T downstream_gene_variant COAD-US 17 79571667 79571667 single base substitution C T exon_variant COAD-US 17 79571667 79571667 single base substitution C T synonymous_variant Q247Q 741G>A COAD-US 17 79571667 79571667 single base substitution C T synonymous_variant Q86Q 258G>A COAD-US 17 79573788 79573788 single base substitution C T 3_prime_UTR_variant COAD-US 17 79573788 79573788 single base substitution C T downstream_gene_variant COAD-US 17 79573788 79573788 single base substitution C T exon_variant COAD-US 17 79573788 79573788 single base substitution C T missense_variant E195K 583G>A COAD-US 17 79573788 79573788 single base substitution C T missense_variant E34K 100G>A COAD-US 17 79577279 79577279 single base substitution C T downstream_gene_variant COAD-US 17 79577279 79577279 single base substitution C T exon_variant COAD-US 17 79577279 79577279 single base substitution C T intron_variant COAD-US 17 79577279 79577279 single base substitution C T missense_variant R131H 392G>A COAD-US 17 79577279 79577279 single base substitution C T upstream_gene_variant COAD-US 17 79589242 79589242 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant COAD-US 17 79589242 79589242 single base substitution G A exon_variant COAD-US 17 79589242 79589242 single base substitution G A synonymous_variant T53T 159C>T COAD-US 17 79596811 79596811 single base substitution C T 5_prime_UTR_variant COAD-US 17 79596811 79596811 single base substitution C T exon_variant COAD-US 17 79596811 79596811 single base substitution C T synonymous_variant P12P 36G>A COCA-CN 17 79519462 79519462 single base substitution G A downstream_gene_variant COCA-CN 17 79526341 79526341 single base substitution A G downstream_gene_variant COCA-CN 17 79526341 79526341 single base substitution A G exon_variant COCA-CN 17 79526341 79526341 single base substitution A G missense_variant F591L 1771T>C COCA-CN 17 79526341 79526341 single base substitution A G synonymous_variant R143R 429T>C COCA-CN 17 79526341 79526341 single base substitution A G synonymous_variant R170R 510T>C COCA-CN 17 79526341 79526341 single base substitution A G synonymous_variant R181R 543T>C COCA-CN 17 79526341 79526341 single base substitution A G synonymous_variant R55R 165T>C COCA-CN 17 79526393 79526393 single base substitution C T 3_prime_UTR_variant COCA-CN 17 79526393 79526393 single base substitution C T downstream_gene_variant COCA-CN 17 79526393 79526393 single base substitution C T exon_variant COCA-CN 17 79526393 79526393 single base substitution C T missense_variant G126E 377G>A COCA-CN 17 79526393 79526393 single base substitution C T missense_variant G153E 458G>A COCA-CN 17 79526393 79526393 single base substitution C T missense_variant G164E 491G>A COCA-CN 17 79526393 79526393 single base substitution C T missense_variant G38E 113G>A COCA-CN 17 79526393 79526393 single base substitution C T synonymous_variant G573G 1719G>A COCA-CN 17 79532380 79532380 single base substitution C A 3_prime_UTR_variant COCA-CN 17 79532380 79532380 single base substitution C A intron_variant COCA-CN 17 79532380 79532380 single base substitution C A missense_variant R446L 1337G>T COCA-CN 17 79532380 79532380 single base substitution C A missense_variant R607L 1820G>T COCA-CN 17 79532380 79532380 single base substitution C A upstream_gene_variant COCA-CN 17 79564291 79564291 single base substitution C T 3_prime_UTR_variant COCA-CN 17 79564291 79564291 single base substitution C T exon_variant COCA-CN 17 79564291 79564291 single base substitution C T missense_variant V164I 490G>A COCA-CN 17 79564291 79564291 single base substitution C T missense_variant V325I 973G>A COCA-CN 17 79571634 79571634 single base substitution C T 3_prime_UTR_variant COCA-CN 17 79571634 79571634 single base substitution C T downstream_gene_variant COCA-CN 17 79571634 79571634 single base substitution C T synonymous_variant E258E 774G>A COCA-CN 17 79571634 79571634 single base substitution C T synonymous_variant E97E 291G>A COCA-CN 17 79575869 79575869 single base substitution C T downstream_gene_variant COCA-CN 17 79575869 79575869 single base substitution C T exon_variant COCA-CN 17 79575869 79575869 single base substitution C T intron_variant COCA-CN 17 79580190 79580190 single base substitution G A intron_variant COCA-CN 17 79580190 79580190 single base substitution G A upstream_gene_variant COCA-CN 17 79612324 79612324 single base substitution C G intron_variant COCA-CN 17 79612499 79612499 single base substitution C A intron_variant COCA-CN 17 79612756 79612756 single base substitution C T intron_variant COCA-CN 17 79614435 79614435 single base substitution A G intron_variant COCA-CN 17 79614683 79614683 single base substitution C T intron_variant COCA-CN 17 79618252 79618252 single base substitution G A upstream_gene_variant COCA-CN 17 79618614 79618614 single base substitution G A upstream_gene_variant EOPC-DE 17 79543912 79543912 single base substitution C T intron_variant EOPC-DE 17 79543912 79543912 single base substitution C T upstream_gene_variant EOPC-DE 17 79544489 79544489 single base substitution T C intron_variant EOPC-DE 17 79613081 79613081 single base substitution C G intron_variant ESAD-UK 17 79520214 79520214 single base substitution C A downstream_gene_variant ESAD-UK 17 79520316 79520323 deletion of <=200bp CAGACATC - downstream_gene_variant ESAD-UK 17 79520980 79520980 single base substitution G A downstream_gene_variant ESAD-UK 17 79522340 79522340 single base substitution C T downstream_gene_variant ESAD-UK 17 79523082 79523082 single base substitution A T downstream_gene_variant ESAD-UK 17 79524810 79524810 single base substitution C G 3_prime_UTR_variant ESAD-UK 17 79524810 79524810 single base substitution C G downstream_gene_variant ESAD-UK 17 79524901 79524901 single base substitution C T 3_prime_UTR_variant ESAD-UK 17 79524901 79524901 single base substitution C T downstream_gene_variant ESAD-UK 17 79527735 79527735 single base substitution C A downstream_gene_variant ESAD-UK 17 79527735 79527735 single base substitution C A intron_variant ESAD-UK 17 79528150 79528150 single base substitution A T downstream_gene_variant ESAD-UK 17 79528150 79528150 single base substitution A T intron_variant ESAD-UK 17 79528150 79528150 single base substitution A T upstream_gene_variant ESAD-UK 17 79532223 79532223 single base substitution T A 3_prime_UTR_variant ESAD-UK 17 79532223 79532223 single base substitution T A intron_variant ESAD-UK 17 79532223 79532223 single base substitution T A upstream_gene_variant ESAD-UK 17 79532252 79532252 single base substitution G C 3_prime_UTR_variant ESAD-UK 17 79532252 79532252 single base substitution G C intron_variant ESAD-UK 17 79532252 79532252 single base substitution G C upstream_gene_variant ESAD-UK 17 79532486 79532486 single base substitution C T 3_prime_UTR_variant ESAD-UK 17 79532486 79532486 single base substitution C T intron_variant ESAD-UK 17 79532486 79532486 single base substitution C T missense_variant G411R 1231G>A ESAD-UK 17 79532486 79532486 single base substitution C T missense_variant G572R 1714G>A ESAD-UK 17 79532486 79532486 single base substitution C T upstream_gene_variant ESAD-UK 17 79533364 79533364 single base substitution A T intron_variant ESAD-UK 17 79537735 79537735 single base substitution C T intron_variant ESAD-UK 17 79537735 79537735 single base substitution C T upstream_gene_variant ESAD-UK 17 79539168 79539168 single base substitution T G intron_variant ESAD-UK 17 79539168 79539168 single base substitution T G upstream_gene_variant ESAD-UK 17 79541306 79541307 deletion of <=200bp CT - intron_variant ESAD-UK 17 79541306 79541307 deletion of <=200bp CT - upstream_gene_variant ESAD-UK 17 79541366 79541366 single base substitution C T intron_variant ESAD-UK 17 79541366 79541366 single base substitution C T upstream_gene_variant ESAD-UK 17 79542998 79542998 single base substitution G C intron_variant ESAD-UK 17 79542998 79542998 single base substitution G C upstream_gene_variant ESAD-UK 17 79544550 79544550 single base substitution C T intron_variant ESAD-UK 17 79547967 79547967 single base substitution G T intron_variant ESAD-UK 17 79549334 79549334 single base substitution C A intron_variant ESAD-UK 17 79552011 79552011 single base substitution C T downstream_gene_variant ESAD-UK 17 79552011 79552011 single base substitution C T intron_variant ESAD-UK 17 79556283 79556283 single base substitution G A intron_variant ESAD-UK 17 79557780 79557780 single base substitution T C intron_variant ESAD-UK 17 79557835 79557835 single base substitution T G intron_variant ESAD-UK 17 79557858 79557858 single base substitution G T intron_variant ESAD-UK 17 79558376 79558376 insertion of <=200bp - G intron_variant ESAD-UK 17 79559424 79559424 single base substitution C T intron_variant ESAD-UK 17 79562562 79562562 insertion of <=200bp - A intron_variant ESAD-UK 17 79564892 79564892 single base substitution C T intron_variant ESAD-UK 17 79564892 79564892 single base substitution C T upstream_gene_variant ESAD-UK 17 79577615 79577615 single base substitution G A downstream_gene_variant ESAD-UK 17 79577615 79577615 single base substitution G A intron_variant ESAD-UK 17 79577615 79577615 single base substitution G A upstream_gene_variant ESAD-UK 17 79577623 79577623 single base substitution G A downstream_gene_variant ESAD-UK 17 79577623 79577623 single base substitution G A intron_variant ESAD-UK 17 79577623 79577623 single base substitution G A upstream_gene_variant ESAD-UK 17 79584841 79584841 single base substitution C T intron_variant ESAD-UK 17 79584841 79584841 single base substitution C T upstream_gene_variant ESAD-UK 17 79587518 79587518 single base substitution T C intron_variant ESAD-UK 17 79587880 79587880 single base substitution T A intron_variant ESAD-UK 17 79588139 79588142 deletion of <=200bp GAAG - intron_variant ESAD-UK 17 79588459 79588459 single base substitution C T intron_variant ESAD-UK 17 79591182 79591182 single base substitution C G intron_variant ESAD-UK 17 79591638 79591638 deletion of <=200bp A - intron_variant ESAD-UK 17 79593630 79593630 single base substitution G C intron_variant ESAD-UK 17 79594658 79594658 single base substitution G A intron_variant ESAD-UK 17 79595408 79595408 single base substitution C T intron_variant ESAD-UK 17 79597387 79597387 single base substitution T C intron_variant ESAD-UK 17 79598369 79598369 single base substitution G A intron_variant ESAD-UK 17 79600560 79600560 single base substitution T C downstream_gene_variant ESAD-UK 17 79600560 79600560 single base substitution T C intron_variant ESAD-UK 17 79600917 79600917 single base substitution G A downstream_gene_variant ESAD-UK 17 79600917 79600917 single base substitution G A intron_variant ESAD-UK 17 79602365 79602365 deletion of <=200bp A - downstream_gene_variant ESAD-UK 17 79602365 79602365 deletion of <=200bp A - intron_variant ESAD-UK 17 79602940 79602940 single base substitution G A downstream_gene_variant ESAD-UK 17 79602940 79602940 single base substitution G A intron_variant ESAD-UK 17 79604137 79604137 single base substitution A G 5_prime_UTR_variant ESAD-UK 17 79604137 79604137 single base substitution A G intron_variant ESAD-UK 17 79604137 79604137 single base substitution A G upstream_gene_variant ESAD-UK 17 79604829 79604829 single base substitution G T intron_variant ESAD-UK 17 79604829 79604829 single base substitution G T upstream_gene_variant ESAD-UK 17 79605387 79605387 single base substitution C T intron_variant ESAD-UK 17 79605387 79605387 single base substitution C T upstream_gene_variant ESAD-UK 17 79606373 79606373 single base substitution A G intron_variant ESAD-UK 17 79606373 79606373 single base substitution A G upstream_gene_variant ESAD-UK 17 79606395 79606395 single base substitution G A intron_variant ESAD-UK 17 79606395 79606395 single base substitution G A upstream_gene_variant ESAD-UK 17 79609096 79609096 single base substitution G A intron_variant ESAD-UK 17 79609096 79609096 single base substitution G A upstream_gene_variant ESAD-UK 17 79611265 79611265 single base substitution C T intron_variant ESAD-UK 17 79612317 79612317 deletion of <=200bp G - intron_variant ESAD-UK 17 79612673 79612673 single base substitution C T intron_variant ESAD-UK 17 79613020 79613020 single base substitution C A intron_variant ESAD-UK 17 79613471 79613471 single base substitution C T intron_variant ESAD-UK 17 79613753 79613753 single base substitution T G intron_variant ESAD-UK 17 79616865 79616865 single base substitution C T upstream_gene_variant ESAD-UK 17 79618232 79618232 single base substitution C T upstream_gene_variant ESAD-UK 17 79619004 79619004 single base substitution G A upstream_gene_variant ESAD-UK 17 79620323 79620323 single base substitution G A upstream_gene_variant ESCA-CN 17 79519326 79519326 single base substitution G C downstream_gene_variant ESCA-CN 17 79618059 79618059 single base substitution C T upstream_gene_variant ESCA-CN 17 79618167 79618167 single base substitution G C upstream_gene_variant GACA-CN 17 79596767 79596767 single base substitution G A 5_prime_UTR_variant GACA-CN 17 79596767 79596767 single base substitution G A exon_variant GACA-CN 17 79596767 79596767 single base substitution G A missense_variant A27V 80C>T GBM-US 17 79556036 79556036 single base substitution G A 3_prime_UTR_variant GBM-US 17 79556036 79556036 single base substitution G A exon_variant GBM-US 17 79556036 79556036 single base substitution G A synonymous_variant D244D 732C>T GBM-US 17 79556036 79556036 single base substitution G A synonymous_variant D405D 1215C>T KIRC-US 17 79589205 79589205 single base substitution A T 5_prime_UTR_premature_start_codon_gain_variant KIRC-US 17 79589205 79589205 single base substitution A T exon_variant KIRC-US 17 79589205 79589205 single base substitution A T missense_variant L66M 196T>A LAML-KR 17 79564558 79564558 single base substitution C T intron_variant LAML-KR 17 79564558 79564558 single base substitution C T upstream_gene_variant LAML-KR 17 79564562 79564562 single base substitution G A intron_variant LAML-KR 17 79564562 79564562 single base substitution G A upstream_gene_variant LAML-KR 17 79584884 79584884 single base substitution G T intron_variant LAML-KR 17 79584884 79584884 single base substitution G T upstream_gene_variant LAML-KR 17 79585656 79585656 single base substitution G A intron_variant LAML-KR 17 79585656 79585656 single base substitution G A upstream_gene_variant LAML-KR 17 79604235 79604235 single base substitution C T intron_variant LAML-KR 17 79604235 79604235 single base substitution C T upstream_gene_variant LAML-KR 17 79611122 79611122 single base substitution A G intron_variant LGG-US 17 79526328 79526328 single base substitution G A 3_prime_UTR_variant LGG-US 17 79526328 79526328 single base substitution G A downstream_gene_variant LGG-US 17 79526328 79526328 single base substitution G A exon_variant LGG-US 17 79526328 79526328 single base substitution G A missense_variant P595L 1784C>T LGG-US 17 79614933 79614936 deletion of <=200bp TAAC - intron_variant LICA-CN 17 79518963 79518963 single base substitution C T downstream_gene_variant LICA-FR 17 79519203 79519203 single base substitution C T downstream_gene_variant LICA-FR 17 79532607 79532607 single base substitution G T 3_prime_UTR_variant LICA-FR 17 79532607 79532607 single base substitution G T 5_prime_UTR_variant LICA-FR 17 79532607 79532607 single base substitution G T exon_variant LICA-FR 17 79532607 79532607 single base substitution G T missense_variant P111Q 332C>A LICA-FR 17 79532607 79532607 single base substitution G T synonymous_variant A370A 1110C>A LICA-FR 17 79532607 79532607 single base substitution G T synonymous_variant A531A 1593C>A LICA-FR 17 79532607 79532607 single base substitution G T synonymous_variant A64A 192C>A LICA-FR 17 79532607 79532607 single base substitution G T synonymous_variant A99A 297C>A LICA-FR 17 79532607 79532607 single base substitution G T upstream_gene_variant LICA-FR 17 79539069 79539069 insertion of <=200bp - G 3_prime_UTR_variant LICA-FR 17 79539069 79539069 insertion of <=200bp - G exon_variant LICA-FR 17 79539069 79539069 insertion of <=200bp - G frameshift_variant L11P? LICA-FR 17 79539069 79539069 insertion of <=200bp - G frameshift_variant L282P? LICA-FR 17 79539069 79539069 insertion of <=200bp - G frameshift_variant L443P? LICA-FR 17 79539069 79539069 insertion of <=200bp - G upstream_gene_variant LICA-FR 17 79555969 79555969 single base substitution C T splice_donor_variant LICA-FR 17 79556558 79556558 insertion of <=200bp - A intron_variant LICA-FR 17 79568318 79568318 single base substitution G A downstream_gene_variant LICA-FR 17 79568318 79568318 single base substitution G A intron_variant LICA-FR 17 79568318 79568318 single base substitution G A upstream_gene_variant LICA-FR 17 79583365 79583365 single base substitution G A intron_variant LICA-FR 17 79583365 79583365 single base substitution G A upstream_gene_variant LICA-FR 17 79586397 79586397 single base substitution C T intron_variant LICA-FR 17 79586397 79586397 single base substitution C T upstream_gene_variant LICA-FR 17 79593175 79593175 deletion of <=200bp A - intron_variant LICA-FR 17 79594416 79594416 deletion of <=200bp A - intron_variant LICA-FR 17 79596031 79596031 single base substitution A T intron_variant LICA-FR 17 79604960 79604960 insertion of <=200bp - A intron_variant LICA-FR 17 79604960 79604960 insertion of <=200bp - A upstream_gene_variant LICA-FR 17 79616227 79616227 single base substitution G T upstream_gene_variant LICA-FR 17 79618174 79618174 single base substitution G T upstream_gene_variant LIHC-US 17 79567437 79567437 single base substitution C T 3_prime_UTR_variant LIHC-US 17 79567437 79567437 single base substitution C T downstream_gene_variant LIHC-US 17 79567437 79567437 single base substitution C T missense_variant S123N 368G>A LIHC-US 17 79567437 79567437 single base substitution C T missense_variant S284N 851G>A LIHC-US 17 79567437 79567437 single base substitution C T upstream_gene_variant LIHC-US 17 79589216 79589216 single base substitution T A 5_prime_UTR_variant LIHC-US 17 79589216 79589216 single base substitution T A exon_variant LIHC-US 17 79589216 79589216 single base substitution T A missense_variant K62I 185A>T LIHC-US 17 79618688 79618688 single base substitution T C upstream_gene_variant LINC-JP 17 79521231 79521231 single base substitution T G downstream_gene_variant LINC-JP 17 79530614 79530614 single base substitution G A 3_prime_UTR_variant LINC-JP 17 79530614 79530614 single base substitution G A downstream_gene_variant LINC-JP 17 79530614 79530614 single base substitution G A intron_variant LINC-JP 17 79530614 79530614 single base substitution G A upstream_gene_variant LINC-JP 17 79534665 79534665 single base substitution A C intron_variant LINC-JP 17 79534665 79534665 single base substitution A C upstream_gene_variant LINC-JP 17 79535448 79535461 deletion of <=200bp CAGCCACTGAAGAA - intron_variant LINC-JP 17 79535448 79535461 deletion of <=200bp CAGCCACTGAAGAA - upstream_gene_variant LINC-JP 17 79539202 79539202 single base substitution A T intron_variant LINC-JP 17 79539202 79539202 single base substitution A T upstream_gene_variant LINC-JP 17 79539209 79539209 single base substitution A T intron_variant LINC-JP 17 79539209 79539209 single base substitution A T upstream_gene_variant LINC-JP 17 79549565 79549565 single base substitution C A intron_variant LINC-JP 17 79556215 79556215 single base substitution C T intron_variant LINC-JP 17 79558471 79558471 single base substitution C A intron_variant LINC-JP 17 79563261 79563261 single base substitution T C 3_prime_UTR_variant LINC-JP 17 79563261 79563261 single base substitution T C exon_variant LINC-JP 17 79563261 79563261 single base substitution T C missense_variant Y173C 518A>G LINC-JP 17 79563261 79563261 single base substitution T C missense_variant Y334C 1001A>G LINC-JP 17 79573755 79573755 single base substitution T C 3_prime_UTR_variant LINC-JP 17 79573755 79573755 single base substitution T C downstream_gene_variant LINC-JP 17 79573755 79573755 single base substitution T C exon_variant LINC-JP 17 79573755 79573755 single base substitution T C missense_variant T206A 616A>G LINC-JP 17 79573755 79573755 single base substitution T C missense_variant T45A 133A>G LINC-JP 17 79581596 79581596 deletion of <=200bp T - intron_variant LINC-JP 17 79581596 79581596 deletion of <=200bp T - upstream_gene_variant LINC-JP 17 79583365 79583365 single base substitution G A intron_variant LINC-JP 17 79583365 79583365 single base substitution G A upstream_gene_variant LINC-JP 17 79592192 79592192 single base substitution A G intron_variant LINC-JP 17 79592828 79592828 deletion of <=200bp A - intron_variant LINC-JP 17 79595925 79595925 single base substitution G T intron_variant LINC-JP 17 79604058 79604058 single base substitution C A 5_prime_UTR_variant LINC-JP 17 79604058 79604058 single base substitution C A exon_variant LINC-JP 17 79604058 79604058 single base substitution C A intron_variant LINC-JP 17 79613361 79613361 single base substitution C A intron_variant LINC-JP 17 79618652 79618652 single base substitution G C upstream_gene_variant LIRI-JP 17 79521226 79521226 single base substitution C T downstream_gene_variant LIRI-JP 17 79523860 79523860 single base substitution C A downstream_gene_variant LIRI-JP 17 79524264 79524264 single base substitution T C 3_prime_UTR_variant LIRI-JP 17 79524264 79524264 single base substitution T C downstream_gene_variant LIRI-JP 17 79530247 79530247 single base substitution C T 3_prime_UTR_variant LIRI-JP 17 79530247 79530247 single base substitution C T downstream_gene_variant LIRI-JP 17 79530247 79530247 single base substitution C T intron_variant LIRI-JP 17 79530247 79530247 single base substitution C T upstream_gene_variant LIRI-JP 17 79531351 79531351 single base substitution G T 3_prime_UTR_variant LIRI-JP 17 79531351 79531351 single base substitution G T downstream_gene_variant LIRI-JP 17 79531351 79531351 single base substitution G T intron_variant LIRI-JP 17 79531351 79531351 single base substitution G T upstream_gene_variant LIRI-JP 17 79533187 79533187 single base substitution G A intron_variant LIRI-JP 17 79533320 79533320 single base substitution T C intron_variant LIRI-JP 17 79533390 79533390 insertion of <=200bp - AA intron_variant LIRI-JP 17 79533855 79533855 single base substitution C T intron_variant LIRI-JP 17 79533855 79533855 single base substitution C T upstream_gene_variant LIRI-JP 17 79534095 79534095 single base substitution A G intron_variant LIRI-JP 17 79534095 79534095 single base substitution A G upstream_gene_variant LIRI-JP 17 79534106 79534106 single base substitution T G intron_variant LIRI-JP 17 79534106 79534106 single base substitution T G upstream_gene_variant LIRI-JP 17 79534109 79534109 single base substitution T C intron_variant LIRI-JP 17 79534109 79534109 single base substitution T C upstream_gene_variant LIRI-JP 17 79535020 79535020 single base substitution G A exon_variant LIRI-JP 17 79535020 79535020 single base substitution G A intron_variant LIRI-JP 17 79535020 79535020 single base substitution G A stop_gained R50* 148C>T LIRI-JP 17 79535020 79535020 single base substitution G A upstream_gene_variant LIRI-JP 17 79539209 79539209 single base substitution A T intron_variant LIRI-JP 17 79539209 79539209 single base substitution A T upstream_gene_variant LIRI-JP 17 79539992 79539992 single base substitution T C intron_variant LIRI-JP 17 79539992 79539992 single base substitution T C upstream_gene_variant LIRI-JP 17 79540268 79540268 single base substitution A T intron_variant LIRI-JP 17 79540268 79540268 single base substitution A T upstream_gene_variant LIRI-JP 17 79541057 79541057 single base substitution G T intron_variant LIRI-JP 17 79541057 79541057 single base substitution G T upstream_gene_variant LIRI-JP 17 79541311 79541311 single base substitution T C intron_variant LIRI-JP 17 79541311 79541311 single base substitution T C upstream_gene_variant LIRI-JP 17 79542220 79542220 single base substitution G A intron_variant LIRI-JP 17 79542220 79542220 single base substitution G A upstream_gene_variant LIRI-JP 17 79542418 79542418 single base substitution C T intron_variant LIRI-JP 17 79542418 79542418 single base substitution C T upstream_gene_variant LIRI-JP 17 79546256 79546256 single base substitution T C intron_variant LIRI-JP 17 79547901 79547901 single base substitution G A intron_variant LIRI-JP 17 79548018 79548018 single base substitution C A intron_variant LIRI-JP 17 79548540 79548540 single base substitution C T intron_variant LIRI-JP 17 79549069 79549069 single base substitution T C intron_variant LIRI-JP 17 79549579 79549579 single base substitution C A intron_variant LIRI-JP 17 79555017 79555017 single base substitution A G downstream_gene_variant LIRI-JP 17 79555017 79555017 single base substitution A G intron_variant LIRI-JP 17 79560911 79560911 single base substitution T G intron_variant LIRI-JP 17 79563140 79563140 single base substitution A G splice_donor_variant LIRI-JP 17 79563798 79563798 single base substitution G A intron_variant LIRI-JP 17 79565160 79565160 single base substitution T A intron_variant LIRI-JP 17 79565160 79565160 single base substitution T A upstream_gene_variant LIRI-JP 17 79567603 79567603 single base substitution C T downstream_gene_variant LIRI-JP 17 79567603 79567603 single base substitution C T intron_variant LIRI-JP 17 79567603 79567603 single base substitution C T upstream_gene_variant LIRI-JP 17 79568833 79568833 single base substitution T C downstream_gene_variant LIRI-JP 17 79568833 79568833 single base substitution T C intron_variant LIRI-JP 17 79568833 79568833 single base substitution T C upstream_gene_variant LIRI-JP 17 79569288 79569288 single base substitution T G downstream_gene_variant LIRI-JP 17 79569288 79569288 single base substitution T G intron_variant LIRI-JP 17 79569288 79569288 single base substitution T G upstream_gene_variant LIRI-JP 17 79570267 79570267 single base substitution T C downstream_gene_variant LIRI-JP 17 79570267 79570267 single base substitution T C intron_variant LIRI-JP 17 79571623 79571623 single base substitution A G 3_prime_UTR_variant LIRI-JP 17 79571623 79571623 single base substitution A G downstream_gene_variant LIRI-JP 17 79571623 79571623 single base substitution A G missense_variant I101T 302T>C LIRI-JP 17 79571623 79571623 single base substitution A G missense_variant I262T 785T>C LIRI-JP 17 79575817 79575817 single base substitution T G 3_prime_UTR_variant LIRI-JP 17 79575817 79575817 single base substitution T G 5_prime_UTR_variant LIRI-JP 17 79575817 79575817 single base substitution T G downstream_gene_variant LIRI-JP 17 79575817 79575817 single base substitution T G exon_variant LIRI-JP 17 79575817 79575817 single base substitution T G intron_variant LIRI-JP 17 79575817 79575817 single base substitution T G missense_variant E156A 467A>C LIRI-JP 17 79576883 79576883 single base substitution G T downstream_gene_variant LIRI-JP 17 79576883 79576883 single base substitution G T intron_variant LIRI-JP 17 79576883 79576883 single base substitution G T upstream_gene_variant LIRI-JP 17 79577376 79577391 deletion of <=200bp GTGTTTCCCTGCCCAC - downstream_gene_variant LIRI-JP 17 79577376 79577391 deletion of <=200bp GTGTTTCCCTGCCCAC - intron_variant LIRI-JP 17 79577376 79577391 deletion of <=200bp GTGTTTCCCTGCCCAC - upstream_gene_variant LIRI-JP 17 79578914 79578914 single base substitution G A downstream_gene_variant LIRI-JP 17 79578914 79578914 single base substitution G A intron_variant LIRI-JP 17 79578914 79578914 single base substitution G A upstream_gene_variant LIRI-JP 17 79580234 79580234 single base substitution A C intron_variant LIRI-JP 17 79580234 79580234 single base substitution A C upstream_gene_variant LIRI-JP 17 79580956 79580956 single base substitution C T intron_variant LIRI-JP 17 79580956 79580956 single base substitution C T upstream_gene_variant LIRI-JP 17 79581130 79581130 single base substitution G C intron_variant LIRI-JP 17 79581130 79581130 single base substitution G C upstream_gene_variant LIRI-JP 17 79582969 79582969 single base substitution G A intron_variant LIRI-JP 17 79582969 79582969 single base substitution G A upstream_gene_variant LIRI-JP 17 79583533 79583533 single base substitution G A intron_variant LIRI-JP 17 79583533 79583533 single base substitution G A upstream_gene_variant LIRI-JP 17 79586428 79586428 single base substitution A C intron_variant LIRI-JP 17 79586767 79586767 single base substitution T G intron_variant LIRI-JP 17 79588105 79588105 single base substitution A T intron_variant LIRI-JP 17 79588800 79588800 single base substitution G C intron_variant LIRI-JP 17 79590984 79590984 single base substitution T C intron_variant LIRI-JP 17 79594531 79594531 single base substitution C T intron_variant LIRI-JP 17 79596887 79596887 single base substitution T C intron_variant LIRI-JP 17 79597050 79597050 single base substitution C T intron_variant LIRI-JP 17 79597599 79597599 single base substitution T C intron_variant LIRI-JP 17 79598976 79598976 single base substitution C T downstream_gene_variant LIRI-JP 17 79598976 79598976 single base substitution C T intron_variant LIRI-JP 17 79599203 79599203 single base substitution T C downstream_gene_variant LIRI-JP 17 79599203 79599203 single base substitution T C intron_variant LIRI-JP 17 79599477 79599477 single base substitution T C downstream_gene_variant LIRI-JP 17 79599477 79599477 single base substitution T C intron_variant LIRI-JP 17 79600384 79600384 single base substitution G A downstream_gene_variant LIRI-JP 17 79600384 79600384 single base substitution G A intron_variant LIRI-JP 17 79601234 79601234 single base substitution C A downstream_gene_variant LIRI-JP 17 79601234 79601234 single base substitution C A intron_variant LIRI-JP 17 79602105 79602105 single base substitution T C downstream_gene_variant LIRI-JP 17 79602105 79602105 single base substitution T C intron_variant LIRI-JP 17 79602255 79602255 single base substitution G T downstream_gene_variant LIRI-JP 17 79602255 79602255 single base substitution G T intron_variant LIRI-JP 17 79604265 79604265 single base substitution T A intron_variant LIRI-JP 17 79604265 79604265 single base substitution T A upstream_gene_variant LIRI-JP 17 79611193 79611193 single base substitution C T intron_variant LIRI-JP 17 79611370 79611415 deletion of <=200bp GCCTGTTGGGCAGGGCACTGTCCTGTCCTCGGCAGCAGGGTCCAGT - intron_variant LIRI-JP 17 79611584 79611584 single base substitution T G intron_variant LIRI-JP 17 79612659 79612659 single base substitution A G intron_variant LIRI-JP 17 79616009 79616009 single base substitution G A upstream_gene_variant LIRI-JP 17 79616581 79616581 single base substitution C A upstream_gene_variant LIRI-JP 17 79618879 79618881 deletion of <=200bp GAG - upstream_gene_variant LUSC-KR 17 79519396 79519396 single base substitution G A downstream_gene_variant LUSC-KR 17 79520136 79520136 single base substitution C A downstream_gene_variant LUSC-KR 17 79523825 79523825 single base substitution C G downstream_gene_variant LUSC-KR 17 79524971 79524971 single base substitution G A 3_prime_UTR_variant LUSC-KR 17 79524971 79524971 single base substitution G A downstream_gene_variant LUSC-KR 17 79525053 79525053 single base substitution C A 3_prime_UTR_variant LUSC-KR 17 79525053 79525053 single base substitution C A downstream_gene_variant LUSC-KR 17 79526009 79526009 single base substitution G A 3_prime_UTR_variant LUSC-KR 17 79526009 79526009 single base substitution G A downstream_gene_variant LUSC-KR 17 79551583 79551583 single base substitution C T downstream_gene_variant LUSC-KR 17 79551583 79551583 single base substitution C T intron_variant LUSC-KR 17 79554477 79554477 single base substitution A G downstream_gene_variant LUSC-KR 17 79554477 79554477 single base substitution A G intron_variant LUSC-KR 17 79555888 79555888 single base substitution G C intron_variant LUSC-KR 17 79556252 79556252 single base substitution G A intron_variant LUSC-KR 17 79569193 79569193 single base substitution C A downstream_gene_variant LUSC-KR 17 79569193 79569193 single base substitution C A intron_variant LUSC-KR 17 79569193 79569193 single base substitution C A upstream_gene_variant LUSC-KR 17 79569978 79569978 single base substitution T C downstream_gene_variant LUSC-KR 17 79569978 79569978 single base substitution T C intron_variant LUSC-KR 17 79578062 79578062 single base substitution T C downstream_gene_variant LUSC-KR 17 79578062 79578062 single base substitution T C intron_variant LUSC-KR 17 79578062 79578062 single base substitution T C upstream_gene_variant LUSC-KR 17 79580457 79580457 single base substitution C A 5_prime_UTR_variant LUSC-KR 17 79580457 79580457 single base substitution C A exon_variant LUSC-KR 17 79580457 79580457 single base substitution C A synonymous_variant T91T 273G>T LUSC-KR 17 79580457 79580457 single base substitution C A upstream_gene_variant LUSC-KR 17 79580638 79580638 single base substitution G C intron_variant LUSC-KR 17 79580638 79580638 single base substitution G C upstream_gene_variant LUSC-KR 17 79584884 79584884 single base substitution G T intron_variant LUSC-KR 17 79584884 79584884 single base substitution G T upstream_gene_variant LUSC-KR 17 79585681 79585681 single base substitution T G intron_variant LUSC-KR 17 79585681 79585681 single base substitution T G upstream_gene_variant LUSC-KR 17 79585718 79585718 single base substitution G C intron_variant LUSC-KR 17 79585718 79585718 single base substitution G C upstream_gene_variant LUSC-KR 17 79586623 79586623 single base substitution T G intron_variant LUSC-KR 17 79590166 79590166 single base substitution G A intron_variant LUSC-KR 17 79606971 79606971 single base substitution G T intron_variant LUSC-KR 17 79606971 79606971 single base substitution G T upstream_gene_variant LUSC-KR 17 79609272 79609272 single base substitution C T intron_variant LUSC-KR 17 79612621 79612621 single base substitution G A intron_variant LUSC-KR 17 79612633 79612633 single base substitution T C intron_variant LUSC-KR 17 79616806 79616806 single base substitution G T upstream_gene_variant LUSC-KR 17 79617620 79617620 single base substitution A C upstream_gene_variant LUSC-KR 17 79617711 79617711 single base substitution G A upstream_gene_variant LUSC-KR 17 79617788 79617788 single base substitution C T upstream_gene_variant LUSC-US 17 79534552 79534552 single base substitution T C 3_prime_UTR_variant LUSC-US 17 79534552 79534552 single base substitution T C exon_variant LUSC-US 17 79534552 79534552 single base substitution T C missense_variant H19R 56A>G LUSC-US 17 79534552 79534552 single base substitution T C missense_variant H325R 974A>G LUSC-US 17 79534552 79534552 single base substitution T C missense_variant H486R 1457A>G LUSC-US 17 79534552 79534552 single base substitution T C missense_variant H54R 161A>G LUSC-US 17 79534552 79534552 single base substitution T C missense_variant I66V 196A>G LUSC-US 17 79534552 79534552 single base substitution T C upstream_gene_variant LUSC-US 17 79596825 79596825 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant LUSC-US 17 79596825 79596825 single base substitution G A exon_variant LUSC-US 17 79596825 79596825 single base substitution G A missense_variant R8C 22C>T LUSC-US 17 79612390 79612390 single base substitution G T intron_variant MALY-DE 17 79519230 79519230 single base substitution G A downstream_gene_variant MALY-DE 17 79528335 79528335 single base substitution T C downstream_gene_variant MALY-DE 17 79528335 79528335 single base substitution T C intron_variant MALY-DE 17 79528335 79528335 single base substitution T C upstream_gene_variant MALY-DE 17 79529335 79529335 single base substitution T C 3_prime_UTR_variant MALY-DE 17 79529335 79529335 single base substitution T C downstream_gene_variant MALY-DE 17 79529335 79529335 single base substitution T C intron_variant MALY-DE 17 79529335 79529335 single base substitution T C upstream_gene_variant MALY-DE 17 79530245 79530245 single base substitution C T 3_prime_UTR_variant MALY-DE 17 79530245 79530245 single base substitution C T downstream_gene_variant MALY-DE 17 79530245 79530245 single base substitution C T intron_variant MALY-DE 17 79530245 79530245 single base substitution C T upstream_gene_variant MALY-DE 17 79533196 79533196 single base substitution A C intron_variant MALY-DE 17 79534896 79534896 single base substitution G C intron_variant MALY-DE 17 79534896 79534896 single base substitution G C upstream_gene_variant MALY-DE 17 79546758 79546758 single base substitution C T intron_variant MALY-DE 17 79551432 79551432 single base substitution A G downstream_gene_variant MALY-DE 17 79551432 79551432 single base substitution A G intron_variant MALY-DE 17 79553529 79553529 single base substitution G A downstream_gene_variant MALY-DE 17 79553529 79553529 single base substitution G A intron_variant MALY-DE 17 79569472 79569472 single base substitution T A downstream_gene_variant MALY-DE 17 79569472 79569472 single base substitution T A intron_variant MALY-DE 17 79589864 79589864 single base substitution A G intron_variant MALY-DE 17 79599892 79599892 single base substitution A G downstream_gene_variant MALY-DE 17 79599892 79599892 single base substitution A G intron_variant MALY-DE 17 79605854 79605854 deletion of <=200bp A - intron_variant MALY-DE 17 79605854 79605854 deletion of <=200bp A - upstream_gene_variant MALY-DE 17 79606054 79606054 single base substitution C T intron_variant MALY-DE 17 79606054 79606054 single base substitution C T upstream_gene_variant MALY-DE 17 79611304 79611304 single base substitution C G intron_variant MALY-DE 17 79611848 79611848 single base substitution G A intron_variant MALY-DE 17 79614271 79614271 single base substitution G A intron_variant MALY-DE 17 79619989 79619989 single base substitution G A upstream_gene_variant MELA-AU 17 79519989 79519990 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 17 79520207 79520207 single base substitution C T downstream_gene_variant MELA-AU 17 79520327 79520327 single base substitution G A downstream_gene_variant MELA-AU 17 79520780 79520780 single base substitution C A downstream_gene_variant MELA-AU 17 79520841 79520841 single base substitution G A downstream_gene_variant MELA-AU 17 79523215 79523216 multiple base substitution (>=2bp and <=200bp) GG AC downstream_gene_variant MELA-AU 17 79523769 79523769 single base substitution G A downstream_gene_variant MELA-AU 17 79523888 79523888 single base substitution G A downstream_gene_variant MELA-AU 17 79523903 79523903 single base substitution G A downstream_gene_variant MELA-AU 17 79524233 79524233 single base substitution G A 3_prime_UTR_variant MELA-AU 17 79524233 79524233 single base substitution G A downstream_gene_variant MELA-AU 17 79524433 79524433 single base substitution G A 3_prime_UTR_variant MELA-AU 17 79524433 79524433 single base substitution G A downstream_gene_variant MELA-AU 17 79524534 79524534 single base substitution C T 3_prime_UTR_variant MELA-AU 17 79524534 79524534 single base substitution C T downstream_gene_variant MELA-AU 17 79525730 79525730 single base substitution G A 3_prime_UTR_variant MELA-AU 17 79525730 79525730 single base substitution G A downstream_gene_variant MELA-AU 17 79526240 79526240 single base substitution A C 3_prime_UTR_variant MELA-AU 17 79526240 79526240 single base substitution A C downstream_gene_variant MELA-AU 17 79526240 79526240 single base substitution A C exon_variant MELA-AU 17 79526431 79526431 single base substitution C T 3_prime_UTR_variant MELA-AU 17 79526431 79526431 single base substitution C T downstream_gene_variant MELA-AU 17 79526431 79526431 single base substitution C T exon_variant MELA-AU 17 79526431 79526431 single base substitution C T missense_variant G561R 1681G>A MELA-AU 17 79526431 79526431 single base substitution C T synonymous_variant A113A 339G>A MELA-AU 17 79526431 79526431 single base substitution C T synonymous_variant A140A 420G>A MELA-AU 17 79526431 79526431 single base substitution C T synonymous_variant A151A 453G>A MELA-AU 17 79526431 79526431 single base substitution C T synonymous_variant A25A 75G>A MELA-AU 17 79526725 79526725 single base substitution G A downstream_gene_variant MELA-AU 17 79526725 79526725 single base substitution G A intron_variant MELA-AU 17 79526981 79526981 single base substitution G A downstream_gene_variant MELA-AU 17 79526981 79526981 single base substitution G A intron_variant MELA-AU 17 79527323 79527323 single base substitution C T downstream_gene_variant MELA-AU 17 79527323 79527323 single base substitution C T intron_variant MELA-AU 17 79527660 79527660 single base substitution G A downstream_gene_variant MELA-AU 17 79527660 79527660 single base substitution G A intron_variant MELA-AU 17 79527660 79527660 single base substitution G A splice_region_variant MELA-AU 17 79528264 79528264 single base substitution T C downstream_gene_variant MELA-AU 17 79528264 79528264 single base substitution T C intron_variant MELA-AU 17 79528264 79528264 single base substitution T C upstream_gene_variant MELA-AU 17 79528567 79528567 single base substitution C T downstream_gene_variant MELA-AU 17 79528567 79528567 single base substitution C T intron_variant MELA-AU 17 79528567 79528567 single base substitution C T upstream_gene_variant MELA-AU 17 79528816 79528816 single base substitution G A 3_prime_UTR_variant MELA-AU 17 79528816 79528816 single base substitution G A downstream_gene_variant MELA-AU 17 79528816 79528816 single base substitution G A intron_variant MELA-AU 17 79528816 79528816 single base substitution G A upstream_gene_variant MELA-AU 17 79528853 79528853 single base substitution G A 3_prime_UTR_variant MELA-AU 17 79528853 79528853 single base substitution G A downstream_gene_variant MELA-AU 17 79528853 79528853 single base substitution G A intron_variant MELA-AU 17 79528853 79528853 single base substitution G A upstream_gene_variant MELA-AU 17 79529191 79529191 single base substitution G A 3_prime_UTR_variant MELA-AU 17 79529191 79529191 single base substitution G A downstream_gene_variant MELA-AU 17 79529191 79529191 single base substitution G A intron_variant MELA-AU 17 79529191 79529191 single base substitution G A upstream_gene_variant MELA-AU 17 79529277 79529277 single base substitution C T 3_prime_UTR_variant MELA-AU 17 79529277 79529277 single base substitution C T downstream_gene_variant MELA-AU 17 79529277 79529277 single base substitution C T intron_variant MELA-AU 17 79529277 79529277 single base substitution C T upstream_gene_variant MELA-AU 17 79529492 79529492 single base substitution G A 3_prime_UTR_variant MELA-AU 17 79529492 79529492 single base substitution G A downstream_gene_variant MELA-AU 17 79529492 79529492 single base substitution G A intron_variant MELA-AU 17 79529492 79529492 single base substitution G A upstream_gene_variant MELA-AU 17 79530406 79530406 single base substitution C T 3_prime_UTR_variant MELA-AU 17 79530406 79530406 single base substitution C T downstream_gene_variant MELA-AU 17 79530406 79530406 single base substitution C T intron_variant MELA-AU 17 79530406 79530406 single base substitution C T upstream_gene_variant MELA-AU 17 79530815 79530815 single base substitution G A 3_prime_UTR_variant MELA-AU 17 79530815 79530815 single base substitution G A downstream_gene_variant MELA-AU 17 79530815 79530815 single base substitution G A intron_variant MELA-AU 17 79530815 79530815 single base substitution G A upstream_gene_variant MELA-AU 17 79531633 79531633 single base substitution G A 3_prime_UTR_variant MELA-AU 17 79531633 79531633 single base substitution G A downstream_gene_variant MELA-AU 17 79531633 79531633 single base substitution G A intron_variant MELA-AU 17 79531633 79531633 single base substitution G A upstream_gene_variant MELA-AU 17 79531741 79531741 single base substitution G A 3_prime_UTR_variant MELA-AU 17 79531741 79531741 single base substitution G A downstream_gene_variant MELA-AU 17 79531741 79531741 single base substitution G A intron_variant MELA-AU 17 79531741 79531741 single base substitution G A upstream_gene_variant MELA-AU 17 79532062 79532063 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 17 79532062 79532063 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 79532062 79532063 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 17 79532158 79532159 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 17 79532158 79532159 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 79532158 79532159 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 17 79532159 79532159 single base substitution G A 3_prime_UTR_variant MELA-AU 17 79532159 79532159 single base substitution G A intron_variant MELA-AU 17 79532159 79532159 single base substitution G A upstream_gene_variant MELA-AU 17 79532275 79532275 single base substitution G A 3_prime_UTR_variant MELA-AU 17 79532275 79532275 single base substitution G A intron_variant MELA-AU 17 79532275 79532275 single base substitution G A upstream_gene_variant MELA-AU 17 79532887 79532887 single base substitution C T intron_variant MELA-AU 17 79532887 79532887 single base substitution C T upstream_gene_variant MELA-AU 17 79533351 79533351 single base substitution C T intron_variant MELA-AU 17 79533387 79533387 single base substitution G A intron_variant MELA-AU 17 79533586 79533586 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 17 79533586 79533586 single base substitution G A intron_variant MELA-AU 17 79533869 79533870 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 79533869 79533870 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 17 79534971 79534972 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 17 79534971 79534972 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 79534971 79534972 multiple base substitution (>=2bp and <=200bp) GG AA splice_region_variant MELA-AU 17 79534971 79534972 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 17 79535088 79535088 single base substitution G A exon_variant MELA-AU 17 79535088 79535088 single base substitution G A intron_variant MELA-AU 17 79535088 79535088 single base substitution G A missense_variant S27F 80C>T MELA-AU 17 79535088 79535088 single base substitution G A upstream_gene_variant MELA-AU 17 79535730 79535731 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 79535730 79535731 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 17 79535828 79535828 single base substitution G A intron_variant MELA-AU 17 79535828 79535828 single base substitution G A upstream_gene_variant MELA-AU 17 79535837 79535837 single base substitution G A intron_variant MELA-AU 17 79535837 79535837 single base substitution G A upstream_gene_variant MELA-AU 17 79536123 79536123 single base substitution G A 3_prime_UTR_variant MELA-AU 17 79536123 79536123 single base substitution G A exon_variant MELA-AU 17 79536123 79536123 single base substitution G A synonymous_variant F24F 72C>T MELA-AU 17 79536123 79536123 single base substitution G A synonymous_variant F295F 885C>T MELA-AU 17 79536123 79536123 single base substitution G A synonymous_variant F456F 1368C>T MELA-AU 17 79536123 79536123 single base substitution G A upstream_gene_variant MELA-AU 17 79536402 79536402 single base substitution G A intron_variant MELA-AU 17 79536402 79536402 single base substitution G A upstream_gene_variant MELA-AU 17 79536531 79536531 single base substitution G A intron_variant MELA-AU 17 79536531 79536531 single base substitution G A upstream_gene_variant MELA-AU 17 79536677 79536677 single base substitution G A intron_variant MELA-AU 17 79536677 79536677 single base substitution G A upstream_gene_variant MELA-AU 17 79536850 79536850 single base substitution C A intron_variant MELA-AU 17 79536850 79536850 single base substitution C A upstream_gene_variant MELA-AU 17 79537142 79537143 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 79537142 79537143 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 17 79537460 79537460 single base substitution G A intron_variant MELA-AU 17 79537460 79537460 single base substitution G A upstream_gene_variant MELA-AU 17 79537539 79537539 single base substitution G A intron_variant MELA-AU 17 79537539 79537539 single base substitution G A upstream_gene_variant MELA-AU 17 79538777 79538777 single base substitution G A intron_variant MELA-AU 17 79538777 79538777 single base substitution G A upstream_gene_variant MELA-AU 17 79539070 79539070 single base substitution G A 3_prime_UTR_variant MELA-AU 17 79539070 79539070 single base substitution G A exon_variant MELA-AU 17 79539070 79539070 single base substitution G A synonymous_variant P10P 30C>T MELA-AU 17 79539070 79539070 single base substitution G A synonymous_variant P281P 843C>T MELA-AU 17 79539070 79539070 single base substitution G A synonymous_variant P442P 1326C>T MELA-AU 17 79539070 79539070 single base substitution G A upstream_gene_variant MELA-AU 17 79539088 79539088 single base substitution G A 3_prime_UTR_variant MELA-AU 17 79539088 79539088 single base substitution G A exon_variant MELA-AU 17 79539088 79539088 single base substitution G A synonymous_variant I275I 825C>T MELA-AU 17 79539088 79539088 single base substitution G A synonymous_variant I436I 1308C>T MELA-AU 17 79539088 79539088 single base substitution G A synonymous_variant I4I 12C>T MELA-AU 17 79539088 79539088 single base substitution G A upstream_gene_variant MELA-AU 17 79539158 79539158 single base substitution T C intron_variant MELA-AU 17 79539158 79539158 single base substitution T C upstream_gene_variant MELA-AU 17 79539187 79539187 single base substitution C T intron_variant MELA-AU 17 79539187 79539187 single base substitution C T upstream_gene_variant MELA-AU 17 79539205 79539205 deletion of <=200bp A - intron_variant MELA-AU 17 79539205 79539205 deletion of <=200bp A - upstream_gene_variant MELA-AU 17 79539213 79539213 single base substitution T A intron_variant MELA-AU 17 79539213 79539213 single base substitution T A upstream_gene_variant MELA-AU 17 79539217 79539217 single base substitution T A intron_variant MELA-AU 17 79539217 79539217 single base substitution T A upstream_gene_variant MELA-AU 17 79539672 79539672 single base substitution C A intron_variant MELA-AU 17 79539672 79539672 single base substitution C A upstream_gene_variant MELA-AU 17 79539674 79539674 single base substitution C T intron_variant MELA-AU 17 79539674 79539674 single base substitution C T upstream_gene_variant MELA-AU 17 79539778 79539778 single base substitution G C intron_variant MELA-AU 17 79539778 79539778 single base substitution G C upstream_gene_variant MELA-AU 17 79540369 79540369 single base substitution C T intron_variant MELA-AU 17 79540369 79540369 single base substitution C T upstream_gene_variant MELA-AU 17 79540856 79540856 single base substitution G A intron_variant MELA-AU 17 79540856 79540856 single base substitution G A upstream_gene_variant MELA-AU 17 79541600 79541600 single base substitution T C intron_variant MELA-AU 17 79541600 79541600 single base substitution T C upstream_gene_variant MELA-AU 17 79541721 79541721 single base substitution G A intron_variant MELA-AU 17 79541721 79541721 single base substitution G A upstream_gene_variant MELA-AU 17 79542260 79542260 single base substitution G A intron_variant MELA-AU 17 79542260 79542260 single base substitution G A upstream_gene_variant MELA-AU 17 79542666 79542666 single base substitution G A intron_variant MELA-AU 17 79542666 79542666 single base substitution G A upstream_gene_variant MELA-AU 17 79543241 79543241 single base substitution G A intron_variant MELA-AU 17 79543241 79543241 single base substitution G A upstream_gene_variant MELA-AU 17 79543436 79543436 single base substitution G A intron_variant MELA-AU 17 79543436 79543436 single base substitution G A upstream_gene_variant MELA-AU 17 79545096 79545096 single base substitution G A intron_variant MELA-AU 17 79545216 79545216 single base substitution G A intron_variant MELA-AU 17 79545321 79545321 single base substitution C T intron_variant MELA-AU 17 79545410 79545410 single base substitution G A intron_variant MELA-AU 17 79546693 79546693 single base substitution C T intron_variant MELA-AU 17 79546816 79546816 single base substitution C T intron_variant MELA-AU 17 79547752 79547752 single base substitution C T intron_variant MELA-AU 17 79547831 79547831 single base substitution G A intron_variant MELA-AU 17 79548063 79548063 single base substitution G A intron_variant MELA-AU 17 79548304 79548304 single base substitution G A intron_variant MELA-AU 17 79548307 79548307 single base substitution G A intron_variant MELA-AU 17 79548889 79548889 single base substitution G A intron_variant MELA-AU 17 79548899 79548899 single base substitution G A intron_variant MELA-AU 17 79548905 79548905 single base substitution G A intron_variant MELA-AU 17 79549021 79549021 single base substitution G A intron_variant MELA-AU 17 79549145 79549146 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 79549513 79549513 single base substitution G A intron_variant MELA-AU 17 79549613 79549613 single base substitution G A intron_variant MELA-AU 17 79550184 79550184 single base substitution G A downstream_gene_variant MELA-AU 17 79550184 79550184 single base substitution G A intron_variant MELA-AU 17 79550640 79550640 single base substitution T C downstream_gene_variant MELA-AU 17 79550640 79550640 single base substitution T C intron_variant MELA-AU 17 79551031 79551031 single base substitution G A downstream_gene_variant MELA-AU 17 79551031 79551031 single base substitution G A intron_variant MELA-AU 17 79551445 79551445 single base substitution G A downstream_gene_variant MELA-AU 17 79551445 79551445 single base substitution G A intron_variant MELA-AU 17 79552090 79552090 single base substitution G A downstream_gene_variant MELA-AU 17 79552090 79552090 single base substitution G A intron_variant MELA-AU 17 79552183 79552183 single base substitution G A downstream_gene_variant MELA-AU 17 79552183 79552183 single base substitution G A intron_variant MELA-AU 17 79552579 79552579 single base substitution T G downstream_gene_variant MELA-AU 17 79552579 79552579 single base substitution T G intron_variant MELA-AU 17 79552789 79552789 single base substitution G A downstream_gene_variant MELA-AU 17 79552789 79552789 single base substitution G A intron_variant MELA-AU 17 79552878 79552878 single base substitution G A downstream_gene_variant MELA-AU 17 79552878 79552878 single base substitution G A intron_variant MELA-AU 17 79552909 79552909 single base substitution G A downstream_gene_variant MELA-AU 17 79552909 79552909 single base substitution G A intron_variant MELA-AU 17 79553058 79553058 single base substitution C T downstream_gene_variant MELA-AU 17 79553058 79553058 single base substitution C T intron_variant MELA-AU 17 79553128 79553128 single base substitution G A downstream_gene_variant MELA-AU 17 79553128 79553128 single base substitution G A intron_variant MELA-AU 17 79553671 79553671 single base substitution G A downstream_gene_variant MELA-AU 17 79553671 79553671 single base substitution G A intron_variant MELA-AU 17 79553970 79553970 single base substitution G A downstream_gene_variant MELA-AU 17 79553970 79553970 single base substitution G A intron_variant MELA-AU 17 79554292 79554292 single base substitution G A downstream_gene_variant MELA-AU 17 79554292 79554292 single base substitution G A intron_variant MELA-AU 17 79554365 79554366 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 17 79554365 79554366 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 79554557 79554557 single base substitution G A downstream_gene_variant MELA-AU 17 79554557 79554557 single base substitution G A intron_variant MELA-AU 17 79554811 79554811 single base substitution C T downstream_gene_variant MELA-AU 17 79554811 79554811 single base substitution C T intron_variant MELA-AU 17 79554971 79554971 single base substitution G A downstream_gene_variant MELA-AU 17 79554971 79554971 single base substitution G A intron_variant MELA-AU 17 79555363 79555363 single base substitution G A intron_variant MELA-AU 17 79555378 79555378 single base substitution G A intron_variant MELA-AU 17 79555672 79555672 single base substitution G A intron_variant MELA-AU 17 79555831 79555831 single base substitution G A intron_variant MELA-AU 17 79556032 79556032 single base substitution G A 3_prime_UTR_variant MELA-AU 17 79556032 79556032 single base substitution G A exon_variant MELA-AU 17 79556032 79556032 single base substitution G A missense_variant P246S 736C>T MELA-AU 17 79556032 79556032 single base substitution G A missense_variant P407S 1219C>T MELA-AU 17 79556108 79556108 single base substitution G A 3_prime_UTR_variant MELA-AU 17 79556108 79556108 single base substitution G A exon_variant MELA-AU 17 79556108 79556108 single base substitution G A synonymous_variant H220H 660C>T MELA-AU 17 79556108 79556108 single base substitution G A synonymous_variant H381H 1143C>T MELA-AU 17 79556159 79556159 single base substitution C T intron_variant MELA-AU 17 79556579 79556579 single base substitution G A intron_variant MELA-AU 17 79557336 79557336 single base substitution G A intron_variant MELA-AU 17 79558099 79558099 single base substitution G A intron_variant MELA-AU 17 79558815 79558815 single base substitution G A intron_variant MELA-AU 17 79558875 79558875 single base substitution G A intron_variant MELA-AU 17 79559099 79559099 single base substitution G A intron_variant MELA-AU 17 79559388 79559388 single base substitution C T intron_variant MELA-AU 17 79559831 79559831 single base substitution G A intron_variant MELA-AU 17 79560100 79560100 single base substitution T C intron_variant MELA-AU 17 79560594 79560594 single base substitution G A intron_variant MELA-AU 17 79561064 79561065 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 79562560 79562560 single base substitution A T intron_variant MELA-AU 17 79562790 79562790 single base substitution G A intron_variant MELA-AU 17 79562866 79562866 single base substitution G A intron_variant MELA-AU 17 79563082 79563082 single base substitution G A intron_variant MELA-AU 17 79563613 79563613 single base substitution A T intron_variant MELA-AU 17 79563783 79563783 single base substitution G A intron_variant MELA-AU 17 79564319 79564319 single base substitution G A 3_prime_UTR_variant MELA-AU 17 79564319 79564319 single base substitution G A exon_variant MELA-AU 17 79564319 79564319 single base substitution G A synonymous_variant L154L 462C>T MELA-AU 17 79564319 79564319 single base substitution G A synonymous_variant L315L 945C>T MELA-AU 17 79564442 79564442 single base substitution C T intron_variant MELA-AU 17 79564442 79564442 single base substitution C T upstream_gene_variant MELA-AU 17 79564625 79564625 single base substitution A T intron_variant MELA-AU 17 79564625 79564625 single base substitution A T upstream_gene_variant MELA-AU 17 79565383 79565383 single base substitution G A intron_variant MELA-AU 17 79565383 79565383 single base substitution G A upstream_gene_variant MELA-AU 17 79565882 79565882 single base substitution G A intron_variant MELA-AU 17 79565882 79565882 single base substitution G A upstream_gene_variant MELA-AU 17 79567480 79567480 single base substitution G A downstream_gene_variant MELA-AU 17 79567480 79567480 single base substitution G A intron_variant MELA-AU 17 79567480 79567480 single base substitution G A upstream_gene_variant MELA-AU 17 79567845 79567845 single base substitution T C downstream_gene_variant MELA-AU 17 79567845 79567845 single base substitution T C intron_variant MELA-AU 17 79567845 79567845 single base substitution T C upstream_gene_variant MELA-AU 17 79567897 79567897 single base substitution G A downstream_gene_variant MELA-AU 17 79567897 79567897 single base substitution G A intron_variant MELA-AU 17 79567897 79567897 single base substitution G A upstream_gene_variant MELA-AU 17 79567910 79567910 single base substitution C T downstream_gene_variant MELA-AU 17 79567910 79567910 single base substitution C T intron_variant MELA-AU 17 79567910 79567910 single base substitution C T upstream_gene_variant MELA-AU 17 79567960 79567960 single base substitution A T downstream_gene_variant MELA-AU 17 79567960 79567960 single base substitution A T intron_variant MELA-AU 17 79567960 79567960 single base substitution A T upstream_gene_variant MELA-AU 17 79568994 79568995 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 17 79568994 79568995 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 79568994 79568995 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 17 79569065 79569065 single base substitution G A downstream_gene_variant MELA-AU 17 79569065 79569065 single base substitution G A intron_variant MELA-AU 17 79569065 79569065 single base substitution G A upstream_gene_variant MELA-AU 17 79569623 79569623 single base substitution G A downstream_gene_variant MELA-AU 17 79569623 79569623 single base substitution G A intron_variant MELA-AU 17 79569728 79569728 single base substitution A G downstream_gene_variant MELA-AU 17 79569728 79569728 single base substitution A G intron_variant MELA-AU 17 79569948 79569948 single base substitution T C downstream_gene_variant MELA-AU 17 79569948 79569948 single base substitution T C intron_variant MELA-AU 17 79569958 79569958 single base substitution C T downstream_gene_variant MELA-AU 17 79569958 79569958 single base substitution C T intron_variant MELA-AU 17 79570199 79570199 single base substitution C T downstream_gene_variant MELA-AU 17 79570199 79570199 single base substitution C T intron_variant MELA-AU 17 79571490 79571490 single base substitution G A downstream_gene_variant MELA-AU 17 79571490 79571490 single base substitution G A intron_variant MELA-AU 17 79571858 79571858 single base substitution A G downstream_gene_variant MELA-AU 17 79571858 79571858 single base substitution A G intron_variant MELA-AU 17 79573107 79573107 single base substitution C T downstream_gene_variant MELA-AU 17 79573107 79573107 single base substitution C T intron_variant MELA-AU 17 79573118 79573118 single base substitution G A downstream_gene_variant MELA-AU 17 79573118 79573118 single base substitution G A intron_variant MELA-AU 17 79573209 79573209 single base substitution G A downstream_gene_variant MELA-AU 17 79573209 79573209 single base substitution G A intron_variant MELA-AU 17 79573990 79573990 single base substitution C T downstream_gene_variant MELA-AU 17 79573990 79573990 single base substitution C T intron_variant MELA-AU 17 79575734 79575734 single base substitution G C downstream_gene_variant MELA-AU 17 79575734 79575734 single base substitution G C intron_variant MELA-AU 17 79576062 79576062 single base substitution G A downstream_gene_variant MELA-AU 17 79576062 79576062 single base substitution G A intron_variant MELA-AU 17 79576062 79576062 single base substitution G A upstream_gene_variant MELA-AU 17 79576067 79576067 single base substitution C T downstream_gene_variant MELA-AU 17 79576067 79576067 single base substitution C T intron_variant MELA-AU 17 79576067 79576067 single base substitution C T upstream_gene_variant MELA-AU 17 79576450 79576450 single base substitution A C downstream_gene_variant MELA-AU 17 79576450 79576450 single base substitution A C intron_variant MELA-AU 17 79576450 79576450 single base substitution A C upstream_gene_variant MELA-AU 17 79576824 79576824 single base substitution C T downstream_gene_variant MELA-AU 17 79576824 79576824 single base substitution C T intron_variant MELA-AU 17 79576824 79576824 single base substitution C T upstream_gene_variant MELA-AU 17 79576953 79576953 single base substitution G A downstream_gene_variant MELA-AU 17 79576953 79576953 single base substitution G A intron_variant MELA-AU 17 79576953 79576953 single base substitution G A upstream_gene_variant MELA-AU 17 79578323 79578323 single base substitution G A downstream_gene_variant MELA-AU 17 79578323 79578323 single base substitution G A intron_variant MELA-AU 17 79578323 79578323 single base substitution G A upstream_gene_variant MELA-AU 17 79578787 79578787 single base substitution C T downstream_gene_variant MELA-AU 17 79578787 79578787 single base substitution C T intron_variant MELA-AU 17 79578787 79578787 single base substitution C T upstream_gene_variant MELA-AU 17 79579087 79579087 single base substitution G A downstream_gene_variant MELA-AU 17 79579087 79579087 single base substitution G A intron_variant MELA-AU 17 79579087 79579087 single base substitution G A upstream_gene_variant MELA-AU 17 79579115 79579115 single base substitution G A downstream_gene_variant MELA-AU 17 79579115 79579115 single base substitution G A intron_variant MELA-AU 17 79579115 79579115 single base substitution G A upstream_gene_variant MELA-AU 17 79580010 79580010 single base substitution G A intron_variant MELA-AU 17 79580010 79580010 single base substitution G A upstream_gene_variant MELA-AU 17 79580678 79580678 single base substitution C T intron_variant MELA-AU 17 79580678 79580678 single base substitution C T upstream_gene_variant MELA-AU 17 79582733 79582733 single base substitution G A intron_variant MELA-AU 17 79582733 79582733 single base substitution G A upstream_gene_variant MELA-AU 17 79582791 79582791 single base substitution G A intron_variant MELA-AU 17 79582791 79582791 single base substitution G A upstream_gene_variant MELA-AU 17 79583558 79583558 single base substitution G A intron_variant MELA-AU 17 79583558 79583558 single base substitution G A upstream_gene_variant MELA-AU 17 79583576 79583576 single base substitution G A intron_variant MELA-AU 17 79583576 79583576 single base substitution G A upstream_gene_variant MELA-AU 17 79584072 79584072 single base substitution G A intron_variant MELA-AU 17 79584072 79584072 single base substitution G A upstream_gene_variant MELA-AU 17 79584083 79584083 single base substitution G A intron_variant MELA-AU 17 79584083 79584083 single base substitution G A upstream_gene_variant MELA-AU 17 79584384 79584384 single base substitution G A intron_variant MELA-AU 17 79584384 79584384 single base substitution G A upstream_gene_variant MELA-AU 17 79584624 79584624 single base substitution G C intron_variant MELA-AU 17 79584624 79584624 single base substitution G C upstream_gene_variant MELA-AU 17 79585184 79585184 single base substitution G A intron_variant MELA-AU 17 79585184 79585184 single base substitution G A upstream_gene_variant MELA-AU 17 79585506 79585506 single base substitution G A intron_variant MELA-AU 17 79585506 79585506 single base substitution G A upstream_gene_variant MELA-AU 17 79585600 79585600 single base substitution G A intron_variant MELA-AU 17 79585600 79585600 single base substitution G A upstream_gene_variant MELA-AU 17 79585887 79585887 single base substitution G A intron_variant MELA-AU 17 79585887 79585887 single base substitution G A upstream_gene_variant MELA-AU 17 79586105 79586105 single base substitution G A intron_variant MELA-AU 17 79586105 79586105 single base substitution G A upstream_gene_variant MELA-AU 17 79586328 79586329 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 79586328 79586329 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 17 79586717 79586717 single base substitution C A intron_variant MELA-AU 17 79587028 79587028 single base substitution G A intron_variant MELA-AU 17 79587211 79587211 single base substitution G A intron_variant MELA-AU 17 79587283 79587283 single base substitution G A intron_variant MELA-AU 17 79587343 79587343 single base substitution G A intron_variant MELA-AU 17 79589517 79589517 single base substitution G A intron_variant MELA-AU 17 79589742 79589742 single base substitution G A intron_variant MELA-AU 17 79589834 79589834 single base substitution C T intron_variant MELA-AU 17 79590439 79590439 single base substitution C T intron_variant MELA-AU 17 79590803 79590803 single base substitution G A intron_variant MELA-AU 17 79591060 79591060 single base substitution C T intron_variant MELA-AU 17 79591550 79591550 single base substitution G A intron_variant MELA-AU 17 79591992 79591992 single base substitution G A intron_variant MELA-AU 17 79592310 79592310 single base substitution A G intron_variant MELA-AU 17 79593132 79593132 single base substitution G A intron_variant MELA-AU 17 79593466 79593466 single base substitution T C intron_variant MELA-AU 17 79593907 79593907 single base substitution G A intron_variant MELA-AU 17 79594035 79594035 single base substitution G A intron_variant MELA-AU 17 79594286 79594286 single base substitution C T intron_variant MELA-AU 17 79594326 79594326 single base substitution G A intron_variant MELA-AU 17 79595968 79595968 single base substitution G A intron_variant MELA-AU 17 79596672 79596672 single base substitution G A intron_variant MELA-AU 17 79596721 79596721 single base substitution C T intron_variant MELA-AU 17 79597190 79597190 single base substitution A G intron_variant MELA-AU 17 79597667 79597667 single base substitution G A intron_variant MELA-AU 17 79598169 79598169 single base substitution G A intron_variant MELA-AU 17 79598363 79598363 single base substitution G A intron_variant MELA-AU 17 79600404 79600405 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 17 79600404 79600405 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 79600610 79600610 single base substitution G A downstream_gene_variant MELA-AU 17 79600610 79600610 single base substitution G A intron_variant MELA-AU 17 79600639 79600639 single base substitution G A downstream_gene_variant MELA-AU 17 79600639 79600639 single base substitution G A intron_variant MELA-AU 17 79600824 79600825 multiple base substitution (>=2bp and <=200bp) GA AG downstream_gene_variant MELA-AU 17 79600824 79600825 multiple base substitution (>=2bp and <=200bp) GA AG intron_variant MELA-AU 17 79602354 79602354 single base substitution G A downstream_gene_variant MELA-AU 17 79602354 79602354 single base substitution G A intron_variant MELA-AU 17 79602956 79602956 insertion of <=200bp - CG downstream_gene_variant MELA-AU 17 79602956 79602956 insertion of <=200bp - CG intron_variant MELA-AU 17 79605493 79605493 single base substitution T G intron_variant MELA-AU 17 79605493 79605493 single base substitution T G upstream_gene_variant MELA-AU 17 79605529 79605529 single base substitution G A intron_variant MELA-AU 17 79605529 79605529 single base substitution G A upstream_gene_variant MELA-AU 17 79605742 79605742 single base substitution C T intron_variant MELA-AU 17 79605742 79605742 single base substitution C T upstream_gene_variant MELA-AU 17 79606264 79606264 single base substitution C T intron_variant MELA-AU 17 79606264 79606264 single base substitution C T upstream_gene_variant MELA-AU 17 79606543 79606543 single base substitution C T intron_variant MELA-AU 17 79606543 79606543 single base substitution C T upstream_gene_variant MELA-AU 17 79606840 79606840 single base substitution T A intron_variant MELA-AU 17 79606840 79606840 single base substitution T A upstream_gene_variant MELA-AU 17 79607452 79607452 single base substitution T C intron_variant MELA-AU 17 79607452 79607452 single base substitution T C upstream_gene_variant MELA-AU 17 79607751 79607751 single base substitution G A intron_variant MELA-AU 17 79607751 79607751 single base substitution G A upstream_gene_variant MELA-AU 17 79608027 79608027 single base substitution C T intron_variant MELA-AU 17 79608027 79608027 single base substitution C T upstream_gene_variant MELA-AU 17 79608309 79608309 single base substitution C T intron_variant MELA-AU 17 79608309 79608309 single base substitution C T upstream_gene_variant MELA-AU 17 79608489 79608489 single base substitution C T intron_variant MELA-AU 17 79608489 79608489 single base substitution C T upstream_gene_variant MELA-AU 17 79608789 79608789 single base substitution C T intron_variant MELA-AU 17 79608789 79608789 single base substitution C T upstream_gene_variant MELA-AU 17 79609226 79609226 single base substitution C T intron_variant MELA-AU 17 79609561 79609561 single base substitution C T intron_variant MELA-AU 17 79611132 79611132 single base substitution C T intron_variant MELA-AU 17 79611221 79611221 single base substitution G A intron_variant MELA-AU 17 79611311 79611311 single base substitution C T intron_variant MELA-AU 17 79611522 79611522 single base substitution C T intron_variant MELA-AU 17 79611788 79611788 single base substitution C T intron_variant MELA-AU 17 79611898 79611898 single base substitution C T intron_variant MELA-AU 17 79612185 79612185 single base substitution C T intron_variant MELA-AU 17 79613209 79613209 single base substitution G A intron_variant MELA-AU 17 79613905 79613905 single base substitution C T intron_variant MELA-AU 17 79614385 79614386 multiple base substitution (>=2bp and <=200bp) GG AC intron_variant MELA-AU 17 79614445 79614445 single base substitution G T intron_variant MELA-AU 17 79614447 79614447 single base substitution A C intron_variant MELA-AU 17 79614509 79614509 single base substitution C T intron_variant MELA-AU 17 79614610 79614610 single base substitution G A intron_variant MELA-AU 17 79614949 79614949 single base substitution C T intron_variant MELA-AU 17 79615001 79615001 single base substitution G A intron_variant MELA-AU 17 79615295 79615295 single base substitution C T intron_variant MELA-AU 17 79615424 79615424 single base substitution C T intron_variant MELA-AU 17 79615621 79615621 single base substitution C T upstream_gene_variant MELA-AU 17 79615659 79615659 single base substitution C T upstream_gene_variant MELA-AU 17 79615701 79615701 single base substitution C T upstream_gene_variant MELA-AU 17 79615943 79615943 single base substitution C T upstream_gene_variant MELA-AU 17 79616140 79616140 single base substitution C A upstream_gene_variant MELA-AU 17 79616860 79616860 single base substitution C T upstream_gene_variant MELA-AU 17 79617520 79617521 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 17 79617724 79617724 single base substitution C T upstream_gene_variant MELA-AU 17 79617790 79617790 single base substitution G A upstream_gene_variant MELA-AU 17 79617795 79617795 single base substitution G A upstream_gene_variant MELA-AU 17 79618114 79618114 single base substitution C T upstream_gene_variant MELA-AU 17 79618222 79618222 single base substitution C T upstream_gene_variant MELA-AU 17 79619068 79619068 single base substitution C G upstream_gene_variant MELA-AU 17 79619288 79619289 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 17 79619636 79619636 single base substitution C G upstream_gene_variant MELA-AU 17 79619679 79619679 single base substitution C T upstream_gene_variant MELA-AU 17 79620090 79620090 single base substitution C T upstream_gene_variant MELA-AU 17 79620194 79620194 single base substitution G A upstream_gene_variant MELA-AU 17 79620252 79620252 single base substitution A G upstream_gene_variant MELA-AU 17 79620384 79620384 single base substitution C T upstream_gene_variant ORCA-IN 17 79524079 79524079 single base substitution C T 3_prime_UTR_variant ORCA-IN 17 79524079 79524079 single base substitution C T downstream_gene_variant ORCA-IN 17 79527852 79527852 single base substitution G A downstream_gene_variant ORCA-IN 17 79527852 79527852 single base substitution G A exon_variant ORCA-IN 17 79527852 79527852 single base substitution G A intron_variant ORCA-IN 17 79530075 79530075 single base substitution A G 3_prime_UTR_variant ORCA-IN 17 79530075 79530075 single base substitution A G downstream_gene_variant ORCA-IN 17 79530075 79530075 single base substitution A G intron_variant ORCA-IN 17 79530075 79530075 single base substitution A G upstream_gene_variant ORCA-IN 17 79530175 79530175 single base substitution C T 3_prime_UTR_variant ORCA-IN 17 79530175 79530175 single base substitution C T downstream_gene_variant ORCA-IN 17 79530175 79530175 single base substitution C T intron_variant ORCA-IN 17 79530175 79530175 single base substitution C T upstream_gene_variant ORCA-IN 17 79531481 79531481 single base substitution G T 3_prime_UTR_variant ORCA-IN 17 79531481 79531481 single base substitution G T downstream_gene_variant ORCA-IN 17 79531481 79531481 single base substitution G T intron_variant ORCA-IN 17 79531481 79531481 single base substitution G T upstream_gene_variant ORCA-IN 17 79534448 79534448 single base substitution G C 3_prime_UTR_variant ORCA-IN 17 79534448 79534448 single base substitution G C exon_variant ORCA-IN 17 79534448 79534448 single base substitution G C missense_variant L360V 1078C>G ORCA-IN 17 79534448 79534448 single base substitution G C missense_variant L521V 1561C>G ORCA-IN 17 79534448 79534448 single base substitution G C missense_variant L54V 160C>G ORCA-IN 17 79534448 79534448 single base substitution G C missense_variant L89V 265C>G ORCA-IN 17 79534448 79534448 single base substitution G C synonymous_variant L100L 300C>G ORCA-IN 17 79534448 79534448 single base substitution G C upstream_gene_variant ORCA-IN 17 79541924 79541924 single base substitution C A intron_variant ORCA-IN 17 79541924 79541924 single base substitution C A upstream_gene_variant ORCA-IN 17 79553006 79553006 single base substitution T C downstream_gene_variant ORCA-IN 17 79553006 79553006 single base substitution T C intron_variant ORCA-IN 17 79591967 79591967 single base substitution G A intron_variant OV-AU 17 79520738 79520738 single base substitution C A downstream_gene_variant OV-AU 17 79528903 79528903 single base substitution T G 3_prime_UTR_variant OV-AU 17 79528903 79528903 single base substitution T G downstream_gene_variant OV-AU 17 79528903 79528903 single base substitution T G intron_variant OV-AU 17 79528903 79528903 single base substitution T G upstream_gene_variant OV-AU 17 79534448 79534448 single base substitution G C 3_prime_UTR_variant OV-AU 17 79534448 79534448 single base substitution G C exon_variant OV-AU 17 79534448 79534448 single base substitution G C missense_variant L360V 1078C>G OV-AU 17 79534448 79534448 single base substitution G C missense_variant L521V 1561C>G OV-AU 17 79534448 79534448 single base substitution G C missense_variant L54V 160C>G OV-AU 17 79534448 79534448 single base substitution G C missense_variant L89V 265C>G OV-AU 17 79534448 79534448 single base substitution G C synonymous_variant L100L 300C>G OV-AU 17 79534448 79534448 single base substitution G C upstream_gene_variant OV-AU 17 79537835 79537835 single base substitution G A intron_variant OV-AU 17 79537835 79537835 single base substitution G A upstream_gene_variant OV-AU 17 79546807 79546807 single base substitution T C intron_variant OV-AU 17 79547248 79547248 single base substitution G A intron_variant OV-AU 17 79549905 79549905 single base substitution T C intron_variant OV-AU 17 79555283 79555283 single base substitution G A intron_variant OV-AU 17 79557064 79557064 single base substitution G A intron_variant OV-AU 17 79561214 79561214 single base substitution T C intron_variant OV-AU 17 79567901 79567901 single base substitution A C downstream_gene_variant OV-AU 17 79567901 79567901 single base substitution A C intron_variant OV-AU 17 79567901 79567901 single base substitution A C upstream_gene_variant OV-AU 17 79569330 79569330 single base substitution T C downstream_gene_variant OV-AU 17 79569330 79569330 single base substitution T C intron_variant OV-AU 17 79569330 79569330 single base substitution T C upstream_gene_variant OV-AU 17 79569960 79569960 single base substitution T C downstream_gene_variant OV-AU 17 79569960 79569960 single base substitution T C intron_variant OV-AU 17 79587542 79587542 single base substitution A T intron_variant OV-AU 17 79599541 79599541 single base substitution C T downstream_gene_variant OV-AU 17 79599541 79599541 single base substitution C T intron_variant OV-AU 17 79601436 79601436 single base substitution A G downstream_gene_variant OV-AU 17 79601436 79601436 single base substitution A G intron_variant OV-AU 17 79610156 79610156 single base substitution G C intron_variant OV-AU 17 79612152 79612152 single base substitution G A intron_variant PACA-AU 17 79521614 79521614 single base substitution T A downstream_gene_variant PACA-AU 17 79523459 79523459 insertion of <=200bp - T downstream_gene_variant PACA-AU 17 79525748 79525748 insertion of <=200bp - G 3_prime_UTR_variant PACA-AU 17 79525748 79525748 insertion of <=200bp - G downstream_gene_variant PACA-AU 17 79527834 79527834 single base substitution C T downstream_gene_variant PACA-AU 17 79527834 79527834 single base substitution C T exon_variant PACA-AU 17 79527834 79527834 single base substitution C T intron_variant PACA-AU 17 79532347 79532369 deletion of <=200bp CACCGGAGCCTGCCACGTGCCTG - 3_prime_UTR_variant PACA-AU 17 79532347 79532369 deletion of <=200bp CACCGGAGCCTGCCACGTGCCTG - frameshift_variant QARGRLR*450 PACA-AU 17 79532347 79532369 deletion of <=200bp CACCGGAGCCTGCCACGTGCCTG - frameshift_variant QARGRLR*611 PACA-AU 17 79532347 79532369 deletion of <=200bp CACCGGAGCCTGCCACGTGCCTG - intron_variant PACA-AU 17 79532347 79532369 deletion of <=200bp CACCGGAGCCTGCCACGTGCCTG - upstream_gene_variant PACA-AU 17 79532844 79532844 single base substitution A C intron_variant PACA-AU 17 79532844 79532844 single base substitution A C upstream_gene_variant PACA-AU 17 79535880 79535880 single base substitution C T intron_variant PACA-AU 17 79535880 79535880 single base substitution C T upstream_gene_variant PACA-AU 17 79536065 79536065 single base substitution G A 3_prime_UTR_variant PACA-AU 17 79536065 79536065 single base substitution G A exon_variant PACA-AU 17 79536065 79536065 single base substitution G A missense_variant R15W 43C>T PACA-AU 17 79536065 79536065 single base substitution G A missense_variant R315W 943C>T PACA-AU 17 79536065 79536065 single base substitution G A missense_variant R44W 130C>T PACA-AU 17 79536065 79536065 single base substitution G A missense_variant R476W 1426C>T PACA-AU 17 79536065 79536065 single base substitution G A missense_variant R9W 25C>T PACA-AU 17 79536065 79536065 single base substitution G A upstream_gene_variant PACA-AU 17 79536979 79536979 single base substitution A G intron_variant PACA-AU 17 79536979 79536979 single base substitution A G upstream_gene_variant PACA-AU 17 79549607 79549607 single base substitution G A intron_variant PACA-AU 17 79550234 79550234 single base substitution G T downstream_gene_variant PACA-AU 17 79550234 79550234 single base substitution G T intron_variant PACA-AU 17 79555722 79555722 single base substitution G T intron_variant PACA-AU 17 79560649 79560649 single base substitution A G intron_variant PACA-AU 17 79563381 79563381 single base substitution T C intron_variant PACA-AU 17 79573093 79573093 single base substitution C G downstream_gene_variant PACA-AU 17 79573093 79573093 single base substitution C G intron_variant PACA-AU 17 79584846 79584846 single base substitution G C intron_variant PACA-AU 17 79584846 79584846 single base substitution G C upstream_gene_variant PACA-AU 17 79587069 79587069 deletion of <=200bp G - intron_variant PACA-AU 17 79587542 79587542 single base substitution A T intron_variant PACA-AU 17 79588600 79588600 single base substitution G A intron_variant PACA-AU 17 79589787 79589787 single base substitution C T intron_variant PACA-AU 17 79591636 79591637 deletion of <=200bp AC - intron_variant PACA-AU 17 79601474 79601474 single base substitution A G downstream_gene_variant PACA-AU 17 79601474 79601474 single base substitution A G intron_variant PACA-AU 17 79609068 79609068 single base substitution G A intron_variant PACA-AU 17 79609068 79609068 single base substitution G A upstream_gene_variant PACA-AU 17 79616610 79616613 deletion of <=200bp TTTG - upstream_gene_variant PACA-AU 17 79616775 79616775 single base substitution C T upstream_gene_variant PACA-AU 17 79619293 79619293 single base substitution G A upstream_gene_variant PACA-AU 17 79619819 79619819 single base substitution G C upstream_gene_variant PACA-CA 17 79519402 79519402 single base substitution G A downstream_gene_variant PACA-CA 17 79519519 79519519 single base substitution T C downstream_gene_variant PACA-CA 17 79522150 79522150 single base substitution G A downstream_gene_variant PACA-CA 17 79527744 79527744 single base substitution T C downstream_gene_variant PACA-CA 17 79527744 79527744 single base substitution T C intron_variant PACA-CA 17 79528640 79528640 single base substitution G T downstream_gene_variant PACA-CA 17 79528640 79528640 single base substitution G T intron_variant PACA-CA 17 79528640 79528640 single base substitution G T upstream_gene_variant PACA-CA 17 79532312 79532312 single base substitution T C 3_prime_UTR_variant PACA-CA 17 79532312 79532312 single base substitution T C intron_variant PACA-CA 17 79532312 79532312 single base substitution T C upstream_gene_variant PACA-CA 17 79533098 79533098 single base substitution G A intron_variant PACA-CA 17 79535271 79535271 single base substitution G C intron_variant PACA-CA 17 79535271 79535271 single base substitution G C upstream_gene_variant PACA-CA 17 79535280 79535280 single base substitution G C intron_variant PACA-CA 17 79535280 79535280 single base substitution G C upstream_gene_variant PACA-CA 17 79535621 79535621 single base substitution G A intron_variant PACA-CA 17 79535621 79535621 single base substitution G A upstream_gene_variant PACA-CA 17 79538325 79538325 single base substitution T A intron_variant PACA-CA 17 79538325 79538325 single base substitution T A upstream_gene_variant PACA-CA 17 79539209 79539209 single base substitution A T intron_variant PACA-CA 17 79539209 79539209 single base substitution A T upstream_gene_variant PACA-CA 17 79539213 79539213 single base substitution T A intron_variant PACA-CA 17 79539213 79539213 single base substitution T A upstream_gene_variant PACA-CA 17 79542913 79542913 single base substitution C A intron_variant PACA-CA 17 79542913 79542913 single base substitution C A upstream_gene_variant PACA-CA 17 79555615 79555615 single base substitution C T intron_variant PACA-CA 17 79556763 79556763 single base substitution C T intron_variant PACA-CA 17 79562758 79562758 single base substitution T C intron_variant PACA-CA 17 79568525 79568525 single base substitution G A downstream_gene_variant PACA-CA 17 79568525 79568525 single base substitution G A intron_variant PACA-CA 17 79568525 79568525 single base substitution G A upstream_gene_variant PACA-CA 17 79569976 79569976 single base substitution C T downstream_gene_variant PACA-CA 17 79569976 79569976 single base substitution C T intron_variant PACA-CA 17 79573237 79573237 single base substitution G C downstream_gene_variant PACA-CA 17 79573237 79573237 single base substitution G C intron_variant PACA-CA 17 79575880 79575880 single base substitution T A downstream_gene_variant PACA-CA 17 79575880 79575880 single base substitution T A exon_variant PACA-CA 17 79575880 79575880 single base substitution T A intron_variant PACA-CA 17 79581172 79581172 single base substitution G A intron_variant PACA-CA 17 79581172 79581172 single base substitution G A upstream_gene_variant PACA-CA 17 79582005 79582005 single base substitution G A intron_variant PACA-CA 17 79582005 79582005 single base substitution G A upstream_gene_variant PACA-CA 17 79587880 79587880 single base substitution T A intron_variant PACA-CA 17 79590718 79590718 single base substitution G C intron_variant PACA-CA 17 79591926 79591926 single base substitution G C intron_variant PACA-CA 17 79600059 79600059 single base substitution G C downstream_gene_variant PACA-CA 17 79600059 79600059 single base substitution G C intron_variant PACA-CA 17 79605348 79605348 single base substitution C T intron_variant PACA-CA 17 79605348 79605348 single base substitution C T upstream_gene_variant PACA-CA 17 79606615 79606615 single base substitution T C intron_variant PACA-CA 17 79606615 79606615 single base substitution T C upstream_gene_variant PACA-CA 17 79612720 79612720 single base substitution C T intron_variant PACA-CA 17 79613273 79613273 single base substitution C T intron_variant PACA-CA 17 79613745 79613745 single base substitution C G intron_variant PACA-CA 17 79613804 79613804 single base substitution G A intron_variant PACA-CA 17 79613896 79613896 single base substitution G A intron_variant PACA-CA 17 79614061 79614061 single base substitution C T intron_variant PACA-CA 17 79615476 79615476 single base substitution G A exon_variant PACA-CA 17 79615950 79615950 single base substitution G T upstream_gene_variant PACA-CA 17 79616565 79616565 single base substitution G T upstream_gene_variant PACA-CA 17 79616688 79616688 single base substitution G A upstream_gene_variant PACA-CA 17 79618467 79618467 single base substitution A G upstream_gene_variant PACA-CA 17 79618686 79618686 single base substitution C T upstream_gene_variant PACA-CA 17 79619786 79619786 single base substitution G A upstream_gene_variant PAEN-AU 17 79523385 79523385 single base substitution C A downstream_gene_variant PAEN-AU 17 79543387 79543387 single base substitution C A intron_variant PAEN-AU 17 79543387 79543387 single base substitution C A upstream_gene_variant PAEN-AU 17 79544550 79544550 single base substitution C T intron_variant PAEN-AU 17 79560811 79560811 single base substitution C T intron_variant PAEN-AU 17 79562611 79562611 single base substitution C T intron_variant PAEN-AU 17 79606651 79606651 single base substitution C T intron_variant PAEN-AU 17 79606651 79606651 single base substitution C T upstream_gene_variant PAEN-AU 17 79609461 79609461 single base substitution C T intron_variant PAEN-AU 17 79609884 79609884 single base substitution A C intron_variant PAEN-AU 17 79616610 79616613 deletion of <=200bp TTTG - upstream_gene_variant PAEN-AU 17 79619752 79619752 single base substitution T C upstream_gene_variant PAEN-IT 17 79613041 79613041 single base substitution G A intron_variant PBCA-DE 17 79522022 79522022 single base substitution A T downstream_gene_variant PBCA-DE 17 79548086 79548086 single base substitution A G intron_variant PBCA-DE 17 79552955 79552955 single base substitution C A downstream_gene_variant PBCA-DE 17 79552955 79552955 single base substitution C A intron_variant PBCA-DE 17 79555376 79555376 single base substitution C T intron_variant PBCA-DE 17 79556741 79556741 single base substitution A G intron_variant PBCA-DE 17 79557698 79557698 insertion of <=200bp - A intron_variant PBCA-DE 17 79561326 79561333 deletion of <=200bp AAAAACTG - intron_variant PBCA-DE 17 79584688 79584688 deletion of <=200bp C - intron_variant PBCA-DE 17 79584688 79584688 deletion of <=200bp C - upstream_gene_variant PBCA-DE 17 79586580 79586580 single base substitution A G intron_variant PBCA-DE 17 79591458 79591458 single base substitution C A intron_variant PBCA-DE 17 79594538 79594545 deletion of <=200bp GGTGGATC - intron_variant PBCA-DE 17 79594549 79594549 single base substitution T C intron_variant PBCA-DE 17 79597616 79597616 single base substitution G A intron_variant PBCA-DE 17 79610530 79610530 single base substitution G A intron_variant PBCA-DE 17 79614094 79614094 single base substitution C G intron_variant PBCA-DE 17 79615105 79615105 single base substitution C G intron_variant PBCA-DE 17 79616973 79616973 single base substitution C T upstream_gene_variant PBCA-DE 17 79618580 79618580 single base substitution T G upstream_gene_variant PRAD-CA 17 79532827 79532827 single base substitution T C intron_variant PRAD-CA 17 79532827 79532827 single base substitution T C upstream_gene_variant PRAD-CA 17 79552700 79552700 single base substitution A G downstream_gene_variant PRAD-CA 17 79552700 79552700 single base substitution A G intron_variant PRAD-CA 17 79560199 79560199 single base substitution C A intron_variant PRAD-CA 17 79562571 79562571 single base substitution C T intron_variant PRAD-CA 17 79590765 79590765 single base substitution A G intron_variant PRAD-CA 17 79602062 79602062 single base substitution T A downstream_gene_variant PRAD-CA 17 79602062 79602062 single base substitution T A intron_variant PRAD-UK 17 79522210 79522210 single base substitution G A downstream_gene_variant PRAD-UK 17 79557164 79557164 single base substitution A T intron_variant PRAD-UK 17 79563521 79563521 single base substitution G A intron_variant PRAD-UK 17 79564095 79564095 single base substitution C T intron_variant PRAD-UK 17 79593388 79593388 single base substitution T G intron_variant PRAD-UK 17 79605199 79605199 single base substitution A T intron_variant PRAD-UK 17 79605199 79605199 single base substitution A T upstream_gene_variant PRAD-UK 17 79605470 79605470 single base substitution G A intron_variant PRAD-UK 17 79605470 79605470 single base substitution G A upstream_gene_variant PRAD-UK 17 79607234 79607234 single base substitution T G intron_variant PRAD-UK 17 79607234 79607234 single base substitution T G upstream_gene_variant PRAD-UK 17 79609035 79609035 single base substitution G T intron_variant PRAD-UK 17 79609035 79609035 single base substitution G T upstream_gene_variant PRAD-UK 17 79611352 79611352 single base substitution C G intron_variant PRAD-US 17 79518970 79518970 deletion of <=200bp G - downstream_gene_variant PRAD-US 17 79536065 79536065 single base substitution G A 3_prime_UTR_variant PRAD-US 17 79536065 79536065 single base substitution G A exon_variant PRAD-US 17 79536065 79536065 single base substitution G A missense_variant R15W 43C>T PRAD-US 17 79536065 79536065 single base substitution G A missense_variant R315W 943C>T PRAD-US 17 79536065 79536065 single base substitution G A missense_variant R44W 130C>T PRAD-US 17 79536065 79536065 single base substitution G A missense_variant R476W 1426C>T PRAD-US 17 79536065 79536065 single base substitution G A missense_variant R9W 25C>T PRAD-US 17 79536065 79536065 single base substitution G A upstream_gene_variant PRAD-US 17 79577247 79577247 single base substitution C T downstream_gene_variant PRAD-US 17 79577247 79577247 single base substitution C T exon_variant PRAD-US 17 79577247 79577247 single base substitution C T intron_variant PRAD-US 17 79577247 79577247 single base substitution C T missense_variant V142I 424G>A PRAD-US 17 79577247 79577247 single base substitution C T upstream_gene_variant RECA-EU 17 79531473 79531473 single base substitution G T 3_prime_UTR_variant RECA-EU 17 79531473 79531473 single base substitution G T downstream_gene_variant RECA-EU 17 79531473 79531473 single base substitution G T intron_variant RECA-EU 17 79531473 79531473 single base substitution G T upstream_gene_variant RECA-EU 17 79533115 79533115 single base substitution T C intron_variant RECA-EU 17 79544416 79544416 single base substitution A C intron_variant RECA-EU 17 79544709 79544709 single base substitution C A intron_variant RECA-EU 17 79555721 79555721 single base substitution C A intron_variant RECA-EU 17 79556352 79556352 single base substitution C T intron_variant RECA-EU 17 79565371 79565371 single base substitution T A intron_variant RECA-EU 17 79565371 79565371 single base substitution T A upstream_gene_variant RECA-EU 17 79565372 79565372 single base substitution G T intron_variant RECA-EU 17 79565372 79565372 single base substitution G T upstream_gene_variant RECA-EU 17 79571629 79571629 single base substitution T A 3_prime_UTR_variant RECA-EU 17 79571629 79571629 single base substitution T A downstream_gene_variant RECA-EU 17 79571629 79571629 single base substitution T A missense_variant K260I 779A>T RECA-EU 17 79571629 79571629 single base substitution T A missense_variant K99I 296A>T RECA-EU 17 79573278 79573278 single base substitution C T downstream_gene_variant RECA-EU 17 79573278 79573278 single base substitution C T intron_variant RECA-EU 17 79575374 79575374 single base substitution T A downstream_gene_variant RECA-EU 17 79575374 79575374 single base substitution T A intron_variant RECA-EU 17 79578899 79578899 single base substitution T C downstream_gene_variant RECA-EU 17 79578899 79578899 single base substitution T C intron_variant RECA-EU 17 79578899 79578899 single base substitution T C upstream_gene_variant RECA-EU 17 79580217 79580217 single base substitution G C intron_variant RECA-EU 17 79580217 79580217 single base substitution G C upstream_gene_variant RECA-EU 17 79582130 79582130 single base substitution T C intron_variant RECA-EU 17 79582130 79582130 single base substitution T C upstream_gene_variant RECA-EU 17 79583355 79583355 single base substitution A G intron_variant RECA-EU 17 79583355 79583355 single base substitution A G upstream_gene_variant RECA-EU 17 79583366 79583366 single base substitution A C intron_variant RECA-EU 17 79583366 79583366 single base substitution A C upstream_gene_variant RECA-EU 17 79584474 79584474 single base substitution C T intron_variant RECA-EU 17 79584474 79584474 single base substitution C T upstream_gene_variant RECA-EU 17 79586753 79586753 single base substitution A T intron_variant RECA-EU 17 79589390 79589390 single base substitution G C intron_variant RECA-EU 17 79591285 79591285 single base substitution A T intron_variant RECA-EU 17 79603296 79603296 single base substitution C A downstream_gene_variant RECA-EU 17 79603296 79603296 single base substitution C A intron_variant RECA-EU 17 79607574 79607574 single base substitution C A intron_variant RECA-EU 17 79607574 79607574 single base substitution C A upstream_gene_variant RECA-EU 17 79615980 79615980 single base substitution G C upstream_gene_variant SKCA-BR 17 79519434 79519434 single base substitution C T downstream_gene_variant SKCA-BR 17 79521654 79521654 single base substitution C T downstream_gene_variant SKCA-BR 17 79524835 79524835 single base substitution A G 3_prime_UTR_variant SKCA-BR 17 79524835 79524835 single base substitution A G downstream_gene_variant SKCA-BR 17 79524903 79524903 single base substitution T C 3_prime_UTR_variant SKCA-BR 17 79524903 79524903 single base substitution T C downstream_gene_variant SKCA-BR 17 79525710 79525710 single base substitution A G 3_prime_UTR_variant SKCA-BR 17 79525710 79525710 single base substitution A G downstream_gene_variant SKCA-BR 17 79527312 79527312 single base substitution A C downstream_gene_variant SKCA-BR 17 79527312 79527312 single base substitution A C intron_variant SKCA-BR 17 79529898 79529898 single base substitution T G 3_prime_UTR_variant SKCA-BR 17 79529898 79529898 single base substitution T G downstream_gene_variant SKCA-BR 17 79529898 79529898 single base substitution T G intron_variant SKCA-BR 17 79529898 79529898 single base substitution T G upstream_gene_variant SKCA-BR 17 79530031 79530031 single base substitution T C 3_prime_UTR_variant SKCA-BR 17 79530031 79530031 single base substitution T C downstream_gene_variant SKCA-BR 17 79530031 79530031 single base substitution T C intron_variant SKCA-BR 17 79530031 79530031 single base substitution T C upstream_gene_variant SKCA-BR 17 79531103 79531103 single base substitution G A 3_prime_UTR_variant SKCA-BR 17 79531103 79531103 single base substitution G A downstream_gene_variant SKCA-BR 17 79531103 79531103 single base substitution G A intron_variant SKCA-BR 17 79531103 79531103 single base substitution G A upstream_gene_variant SKCA-BR 17 79533488 79533488 single base substitution G A 5_prime_UTR_variant SKCA-BR 17 79533488 79533488 single base substitution G A intron_variant SKCA-BR 17 79534404 79534404 single base substitution G A intron_variant SKCA-BR 17 79534404 79534404 single base substitution G A upstream_gene_variant SKCA-BR 17 79535106 79535108 deletion of <=200bp CAA - intron_variant SKCA-BR 17 79535106 79535108 deletion of <=200bp CAA - splice_region_variant SKCA-BR 17 79535106 79535108 deletion of <=200bp CAA - upstream_gene_variant SKCA-BR 17 79537216 79537216 single base substitution T G intron_variant SKCA-BR 17 79537216 79537216 single base substitution T G upstream_gene_variant SKCA-BR 17 79541414 79541414 single base substitution G A intron_variant SKCA-BR 17 79541414 79541414 single base substitution G A upstream_gene_variant SKCA-BR 17 79541435 79541435 single base substitution T C intron_variant SKCA-BR 17 79541435 79541435 single base substitution T C upstream_gene_variant SKCA-BR 17 79542761 79542761 single base substitution G A intron_variant SKCA-BR 17 79542761 79542761 single base substitution G A upstream_gene_variant SKCA-BR 17 79544542 79544542 single base substitution A C intron_variant SKCA-BR 17 79561577 79561577 single base substitution G A intron_variant SKCA-BR 17 79562453 79562454 deletion of <=200bp CA - intron_variant SKCA-BR 17 79563732 79563732 single base substitution A C intron_variant SKCA-BR 17 79564716 79564716 single base substitution G A intron_variant SKCA-BR 17 79564716 79564716 single base substitution G A upstream_gene_variant SKCA-BR 17 79564820 79564820 single base substitution A T intron_variant SKCA-BR 17 79564820 79564820 single base substitution A T upstream_gene_variant SKCA-BR 17 79565120 79565121 deletion of <=200bp CA - intron_variant SKCA-BR 17 79565120 79565121 deletion of <=200bp CA - upstream_gene_variant SKCA-BR 17 79565606 79565606 single base substitution G A intron_variant SKCA-BR 17 79565606 79565606 single base substitution G A upstream_gene_variant SKCA-BR 17 79565912 79565912 single base substitution G A intron_variant SKCA-BR 17 79565912 79565912 single base substitution G A upstream_gene_variant SKCA-BR 17 79568268 79568268 single base substitution G A downstream_gene_variant SKCA-BR 17 79568268 79568268 single base substitution G A intron_variant SKCA-BR 17 79568268 79568268 single base substitution G A upstream_gene_variant SKCA-BR 17 79570006 79570006 insertion of <=200bp - TACAC downstream_gene_variant SKCA-BR 17 79570006 79570006 insertion of <=200bp - TACAC intron_variant SKCA-BR 17 79572433 79572433 single base substitution G A downstream_gene_variant SKCA-BR 17 79572433 79572433 single base substitution G A intron_variant SKCA-BR 17 79572657 79572657 single base substitution G A downstream_gene_variant SKCA-BR 17 79572657 79572657 single base substitution G A intron_variant SKCA-BR 17 79577412 79577412 single base substitution G A downstream_gene_variant SKCA-BR 17 79577412 79577412 single base substitution G A intron_variant SKCA-BR 17 79577412 79577412 single base substitution G A upstream_gene_variant SKCA-BR 17 79582126 79582126 insertion of <=200bp - CTTTCTT intron_variant SKCA-BR 17 79582126 79582126 insertion of <=200bp - CTTTCTT upstream_gene_variant SKCA-BR 17 79582817 79582817 single base substitution T A intron_variant SKCA-BR 17 79582817 79582817 single base substitution T A upstream_gene_variant SKCA-BR 17 79583027 79583027 single base substitution C T intron_variant SKCA-BR 17 79583027 79583027 single base substitution C T upstream_gene_variant SKCA-BR 17 79583355 79583355 single base substitution A G intron_variant SKCA-BR 17 79583355 79583355 single base substitution A G upstream_gene_variant SKCA-BR 17 79584689 79584689 insertion of <=200bp - CCCCCTCCCCCT intron_variant SKCA-BR 17 79584689 79584689 insertion of <=200bp - CCCCCTCCCCCT upstream_gene_variant SKCA-BR 17 79585611 79585611 single base substitution G A intron_variant SKCA-BR 17 79585611 79585611 single base substitution G A upstream_gene_variant SKCA-BR 17 79585619 79585619 insertion of <=200bp - GC intron_variant SKCA-BR 17 79585619 79585619 insertion of <=200bp - GC upstream_gene_variant SKCA-BR 17 79586327 79586327 single base substitution C T intron_variant SKCA-BR 17 79586327 79586327 single base substitution C T upstream_gene_variant SKCA-BR 17 79586599 79586599 single base substitution G A intron_variant SKCA-BR 17 79590835 79590835 single base substitution C A intron_variant SKCA-BR 17 79596457 79596457 single base substitution A C intron_variant SKCA-BR 17 79598481 79598489 deletion of <=200bp TTTTTTTTC - downstream_gene_variant SKCA-BR 17 79598481 79598489 deletion of <=200bp TTTTTTTTC - intron_variant SKCA-BR 17 79599354 79599355 deletion of <=200bp CT - downstream_gene_variant SKCA-BR 17 79599354 79599355 deletion of <=200bp CT - intron_variant SKCA-BR 17 79600063 79600063 single base substitution G A downstream_gene_variant SKCA-BR 17 79600063 79600063 single base substitution G A intron_variant SKCA-BR 17 79600884 79600884 single base substitution A C downstream_gene_variant SKCA-BR 17 79600884 79600884 single base substitution A C intron_variant SKCA-BR 17 79601615 79601615 insertion of <=200bp - CT downstream_gene_variant SKCA-BR 17 79601615 79601615 insertion of <=200bp - CT intron_variant SKCA-BR 17 79603162 79603162 single base substitution A T downstream_gene_variant SKCA-BR 17 79603162 79603162 single base substitution A T intron_variant SKCA-BR 17 79603231 79603231 single base substitution A C downstream_gene_variant SKCA-BR 17 79603231 79603231 single base substitution A C intron_variant SKCA-BR 17 79603770 79603770 single base substitution A G intron_variant SKCA-BR 17 79604170 79604170 single base substitution G A 5_prime_UTR_variant SKCA-BR 17 79604170 79604170 single base substitution G A intron_variant SKCA-BR 17 79604170 79604170 single base substitution G A upstream_gene_variant SKCA-BR 17 79604908 79604908 single base substitution T C intron_variant SKCA-BR 17 79604908 79604908 single base substitution T C upstream_gene_variant SKCA-BR 17 79604959 79604959 insertion of <=200bp - CAAA intron_variant SKCA-BR 17 79604959 79604959 insertion of <=200bp - CAAA upstream_gene_variant SKCA-BR 17 79610264 79610264 single base substitution T C intron_variant SKCA-BR 17 79610666 79610666 single base substitution A G intron_variant SKCA-BR 17 79611369 79611415 deletion of <=200bp AGCCTGTTGGGCAGGGCACTGTCCTGTCCTCGGCAGCAGGGTCCAGT - intron_variant SKCA-BR 17 79613059 79613059 single base substitution C T intron_variant SKCA-BR 17 79613562 79613562 single base substitution T C intron_variant SKCA-BR 17 79613863 79613875 deletion of <=200bp TTTTGTTGGTTTG - intron_variant SKCA-BR 17 79615082 79615082 single base substitution C T intron_variant SKCA-BR 17 79615309 79615309 single base substitution G A intron_variant SKCA-BR 17 79615638 79615638 single base substitution C T upstream_gene_variant SKCA-BR 17 79616123 79616123 single base substitution C G upstream_gene_variant SKCA-BR 17 79618530 79618530 single base substitution G A upstream_gene_variant SKCA-BR 17 79619226 79619226 single base substitution C T upstream_gene_variant SKCA-BR 17 79620155 79620155 single base substitution C T upstream_gene_variant SKCM-US 17 79536077 79536077 single base substitution G A 3_prime_UTR_variant SKCM-US 17 79536077 79536077 single base substitution G A exon_variant SKCM-US 17 79536077 79536077 single base substitution G A missense_variant P11S 31C>T SKCM-US 17 79536077 79536077 single base substitution G A missense_variant P311S 931C>T SKCM-US 17 79536077 79536077 single base substitution G A missense_variant P40S 118C>T SKCM-US 17 79536077 79536077 single base substitution G A missense_variant P472S 1414C>T SKCM-US 17 79536077 79536077 single base substitution G A missense_variant P5S 13C>T SKCM-US 17 79536077 79536077 single base substitution G A upstream_gene_variant SKCM-US 17 79536116 79536116 single base substitution C T 3_prime_UTR_variant SKCM-US 17 79536116 79536116 single base substitution C T exon_variant SKCM-US 17 79536116 79536116 single base substitution C T missense_variant D27N 79G>A SKCM-US 17 79536116 79536116 single base substitution C T missense_variant D298N 892G>A SKCM-US 17 79536116 79536116 single base substitution C T missense_variant D459N 1375G>A SKCM-US 17 79536116 79536116 single base substitution C T upstream_gene_variant SKCM-US 17 79536121 79536121 single base substitution G A 3_prime_UTR_variant SKCM-US 17 79536121 79536121 single base substitution G A exon_variant SKCM-US 17 79536121 79536121 single base substitution G A missense_variant P25L 74C>T SKCM-US 17 79536121 79536121 single base substitution G A missense_variant P296L 887C>T SKCM-US 17 79536121 79536121 single base substitution G A missense_variant P457L 1370C>T SKCM-US 17 79536121 79536121 single base substitution G A upstream_gene_variant SKCM-US 17 79539070 79539070 single base substitution G A 3_prime_UTR_variant SKCM-US 17 79539070 79539070 single base substitution G A exon_variant SKCM-US 17 79539070 79539070 single base substitution G A synonymous_variant P10P 30C>T SKCM-US 17 79539070 79539070 single base substitution G A synonymous_variant P281P 843C>T SKCM-US 17 79539070 79539070 single base substitution G A synonymous_variant P442P 1326C>T SKCM-US 17 79539070 79539070 single base substitution G A upstream_gene_variant SKCM-US 17 79556066 79556066 single base substitution G A 3_prime_UTR_variant SKCM-US 17 79556066 79556066 single base substitution G A exon_variant SKCM-US 17 79556066 79556066 single base substitution G A synonymous_variant V234V 702C>T SKCM-US 17 79556066 79556066 single base substitution G A synonymous_variant V395V 1185C>T SKCM-US 17 79573813 79573813 single base substitution G A 3_prime_UTR_variant SKCM-US 17 79573813 79573813 single base substitution G A downstream_gene_variant SKCM-US 17 79573813 79573813 single base substitution G A exon_variant SKCM-US 17 79573813 79573813 single base substitution G A synonymous_variant I186I 558C>T SKCM-US 17 79573813 79573813 single base substitution G A synonymous_variant I25I 75C>T SKCM-US 17 79580495 79580495 single base substitution G A 5_prime_UTR_variant SKCM-US 17 79580495 79580495 single base substitution G A exon_variant SKCM-US 17 79580495 79580495 single base substitution G A missense_variant P79S 235C>T SKCM-US 17 79580495 79580495 single base substitution G A upstream_gene_variant SKCM-US 17 79609460 79609460 single base substitution C T intron_variant SKCM-US 17 79609470 79609470 single base substitution C T intron_variant SKCM-US 17 79612079 79612079 single base substitution C T intron_variant SKCM-US 17 79612587 79612587 single base substitution C T intron_variant SKCM-US 17 79615001 79615001 single base substitution G A intron_variant SKCM-US 17 79618115 79618115 single base substitution C T upstream_gene_variant SKCM-US 17 79620252 79620252 single base substitution A G upstream_gene_variant SKCM-US 17 79620265 79620265 single base substitution C T upstream_gene_variant STAD-US 17 79539094 79539094 single base substitution G C 3_prime_UTR_variant STAD-US 17 79539094 79539094 single base substitution G C exon_variant STAD-US 17 79539094 79539094 single base substitution G C missense_variant N273K 819C>G STAD-US 17 79539094 79539094 single base substitution G C missense_variant N2K 6C>G STAD-US 17 79539094 79539094 single base substitution G C missense_variant N434K 1302C>G STAD-US 17 79539094 79539094 single base substitution G C upstream_gene_variant STAD-US 17 79564302 79564302 single base substitution C T 3_prime_UTR_variant STAD-US 17 79564302 79564302 single base substitution C T exon_variant STAD-US 17 79564302 79564302 single base substitution C T missense_variant R160Q 479G>A STAD-US 17 79564302 79564302 single base substitution C T missense_variant R321Q 962G>A STAD-US 17 79573742 79573742 single base substitution G A 3_prime_UTR_variant STAD-US 17 79573742 79573742 single base substitution G A downstream_gene_variant STAD-US 17 79573742 79573742 single base substitution G A exon_variant STAD-US 17 79573742 79573742 single base substitution G A missense_variant P210L 629C>T STAD-US 17 79573742 79573742 single base substitution G A missense_variant P49L 146C>T STAD-US 17 79573783 79573783 single base substitution C T 3_prime_UTR_variant STAD-US 17 79573783 79573783 single base substitution C T downstream_gene_variant STAD-US 17 79573783 79573783 single base substitution C T exon_variant STAD-US 17 79573783 79573783 single base substitution C T synonymous_variant G196G 588G>A STAD-US 17 79573783 79573783 single base substitution C T synonymous_variant G35G 105G>A STAD-US 17 79612028 79612028 single base substitution G A intron_variant STAD-US 17 79612272 79612272 single base substitution C T intron_variant STAD-US 17 79612444 79612444 insertion of <=200bp - T intron_variant STAD-US 17 79615000 79615000 single base substitution C T intron_variant STAD-US 17 79620296 79620296 single base substitution T C upstream_gene_variant THCA-SA 17 79524903 79524903 single base substitution T C 3_prime_UTR_variant THCA-SA 17 79524903 79524903 single base substitution T C downstream_gene_variant THCA-SA 17 79525660 79525660 single base substitution A G 3_prime_UTR_variant THCA-SA 17 79525660 79525660 single base substitution A G downstream_gene_variant THCA-SA 17 79564304 79564304 single base substitution G T 3_prime_UTR_variant THCA-SA 17 79564304 79564304 single base substitution G T exon_variant THCA-SA 17 79564304 79564304 single base substitution G T synonymous_variant T159T 477C>A THCA-SA 17 79564304 79564304 single base substitution G T synonymous_variant T320T 960C>A THCA-SA 17 79617705 79617705 single base substitution G A upstream_gene_variant THCA-SA 17 79617830 79617830 single base substitution G A upstream_gene_variant UCEC-US 17 79526380 79526380 single base substitution T C 3_prime_UTR_variant UCEC-US 17 79526380 79526380 single base substitution T C downstream_gene_variant UCEC-US 17 79526380 79526380 single base substitution T C exon_variant UCEC-US 17 79526380 79526380 single base substitution T C missense_variant T578A 1732A>G UCEC-US 17 79526380 79526380 single base substitution T C synonymous_variant T130T 390A>G UCEC-US 17 79526380 79526380 single base substitution T C synonymous_variant T157T 471A>G UCEC-US 17 79526380 79526380 single base substitution T C synonymous_variant T168T 504A>G UCEC-US 17 79526380 79526380 single base substitution T C synonymous_variant T42T 126A>G UCEC-US 17 79536138 79536138 single base substitution C A splice_acceptor_variant UCEC-US 17 79536138 79536138 single base substitution C A upstream_gene_variant UCEC-US 17 79563180 79563180 single base substitution C A 3_prime_UTR_variant UCEC-US 17 79563180 79563180 single base substitution C A exon_variant UCEC-US 17 79563180 79563180 single base substitution C A missense_variant G200V 599G>T UCEC-US 17 79563180 79563180 single base substitution C A missense_variant G361V 1082G>T UCEC-US 17 79575810 79575810 single base substitution G A 3_prime_UTR_variant UCEC-US 17 79575810 79575810 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 17 79575810 79575810 single base substitution G A downstream_gene_variant UCEC-US 17 79575810 79575810 single base substitution G A exon_variant UCEC-US 17 79575810 79575810 single base substitution G A intron_variant UCEC-US 17 79575810 79575810 single base substitution G A synonymous_variant P158P 474C>T UCEC-US 17 79612402 79612402 single base substitution G T intron_variant UCEC-US 17 79612579 79612579 single base substitution C T intron_variant UCEC-US 17 79617928 79617928 single base substitution T C upstream_gene_variant UCEC-US 17 79620238 79620238 single base substitution C T upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand HCC27 COSM3717771 c.1001A>G p.Y334C Substitution - Missense 17:81596235-81596235 - LIM2405 COSM4642179 c.1061T>C p.M354T Substitution - Missense 17:81596175-81596175 - CHC1539T COSM4788763 c.1593C>A p.A531A Substitution - coding silent 17:81565581-81565581 - TCGA-D1-A103-01 COSM985889 c.1082G>T p.G361V Substitution - Missense 17:81596154-81596154 - TCGA-BS-A0UF-01 COSM985888 c.1354-1G>T p.? Unknown 17:81569112-81569112 - sysucc-1024T COSM5763223 c.1771T>C p.F591L Substitution - Missense 17:81559315-81559315 - LC_C9 COSM1189621 c.424G>T p.V142F Substitution - Missense 17:81610221-81610221 - TCGA-A2-A3XU-01 COSM3820997 c.1536C>A p.F512L Substitution - Missense 17:81567447-81567447 - TCGA-BH-A0HF-01 COSM3820999 c.1200G>A p.L400L Substitution - coding silent 17:81589025-81589025 - TCGA-QU-A6IP-01 COSM4392964 c.424G>A p.V142I Substitution - Missense 17:81610221-81610221 - 2521249 COSM5888341 c.190C>T p.L64F Substitution - Missense 17:81622185-81622185 - ESO-1488 COSM1259392 c.1151G>A p.G384E Substitution - Missense 17:81589074-81589074 - TCGA-AA-3713-01 COSM2805284 c.1566+4C>T p.? Unknown 17:81567413-81567413 - Pat_66_A COSM2805290 c.1409C>T p.P470L Substitution - Missense 17:81569056-81569056 - C0052T COSM4151802 c.779A>T p.K260I Substitution - Missense 17:81604603-81604603 - TCGA-AR-A24N-01 COSM3820996 c.1809C>T p.C603C Substitution - coding silent 17:81559277-81559277 - HCT8 COSM2805282 c.1618G>A p.A540T Substitution - Missense 17:81565556-81565556 - RK169_C01 COSM3701316 c.785T>C p.I262T Substitution - Missense 17:81604597-81604597 - TCGA-AU-6004-01 COSM3692050 c.741G>A p.Q247Q Substitution - coding silent 17:81604641-81604641 - TCGA-AA-3715-01 COSM269734 c.161G>A p.G54E Substitution - Missense 17:81622214-81622214 - TCGA-A5-A0VP-01 COSM985890 c.474C>T p.P158P Substitution - coding silent 17:81608784-81608784 - YUWIA COSM5387644 c.898G>T p.A300S Substitution - Missense 17:81600364-81600364 - GC10_T COSM3748654 c.80C>T p.A27V Substitution - Missense 17:81629741-81629741 - PCA78-2 COSM5415763 c.743A>G p.H248R Substitution - Missense 17:81604639-81604639 - RK308_C01 COSM3742510 c.1120+2T>C p.? Unknown 17:81596114-81596114 - CSCC-16-T COSM4465122 c.1369C>T p.P457S Substitution - Missense 17:81569096-81569096 - pfg127T COSM4758013 c.851G>A p.S284N Substitution - Missense 17:81600411-81600411 - TCGA-FP-8631-01 COSM4070695 c.588G>A p.G196G Substitution - coding silent 17:81606757-81606757 - Au1 COSM5597209 c.871C>T p.P291S Substitution - Missense 17:81600391-81600391 - TCGA-D8-A1XK-01 COSM3821001 c.974T>C p.V325A Substitution - Missense 17:81597264-81597264 - TCGA-D8-A27H-01 COSM1480169 c.1443G>C p.E481D Substitution - Missense 17:81569022-81569022 - CHC1539T COSM4788763 c.1593C>A p.A531A Substitution - coding silent 17:81565581-81565581 - TCGA-AM-5821-01 COSM3756029 c.36G>A p.P12P Substitution - coding silent 17:81629785-81629785 - CSCC-11-T COSM4501701 c.595C>T p.P199S Substitution - Missense 17:81606750-81606750 - TCGA-FD-A3N5-01 COSM1303511 c.288C>T p.G96G Substitution - coding silent 17:81613416-81613416 - 2492730 COSM5729827 c.1010G>A p.S337N Substitution - Missense 17:81596226-81596226 - 8016470 COSM3388301 c.1426C>T p.R476W Substitution - Missense 17:81569039-81569039 - TCGA-61-2102-01 COSM86581 c.239C>G p.S80W Substitution - Missense 17:81613465-81613465 - 186T COSM1727564 c.249delT p.S86fs*59 Deletion - Frameshift 17:81613455-81613455 - PD4841a COSM5787687 c.889G>A p.D297N Substitution - Missense 17:81600373-81600373 - 1N46-VS-1T46 COSM4976064 c.1353+2T>A p.? Unknown 17:81572015-81572015 - TCGA-FG-6692-01 COSM3970439 c.1784C>T p.P595L Substitution - Missense 17:81559302-81559302 - HCT15 COSM2805282 c.1618G>A p.A540T Substitution - Missense 17:81565556-81565556 - TCGA-FS-A4FC-06 COSM3523649 c.1185C>T p.V395V Substitution - coding silent 17:81589040-81589040 - C086 COSM5535577 c.678C>T p.I226I Substitution - coding silent 17:81604704-81604704 - Au5 COSM2805290 c.1409C>T p.P470L Substitution - Missense 17:81569056-81569056 - ESO-2536 COSM1259393 c.1681G>A p.G561R Substitution - Missense 17:81559405-81559405 - TCGA-QG-A5YW-01 COSM5186139 c.1233C>T p.Y411Y Substitution - coding silent 17:81588992-81588992 - 345973 COSM2805314 c.396C>T p.H132H Substitution - coding silent 17:81610249-81610249 - SC_9063 COSM5571424 c.1261G>A p.V421M Substitution - Missense 17:81588964-81588964 - HCT8 COSM2805292 c.1401G>A p.S467S Substitution - coding silent 17:81569064-81569064 - TCGA-60-2726-01 COSM708651 c.1457A>G p.H486R Substitution - Missense 17:81567526-81567526 - 53M COSM4501701 c.595C>T p.P199S Substitution - Missense 17:81606750-81606750 - HCC52T COSM1610978 c.616A>G p.T206A Substitution - Missense 17:81606729-81606729 - TCGA-EE-A2GB-06 COSM3523647 c.1326C>T p.P442P Substitution - coding silent 17:81572044-81572044 - 2293782 COSM4608694 c.1129G>T p.D377Y Substitution - Missense 17:81589096-81589096 - PT45 COSM5927794 c.787C>T p.P263S Substitution - Missense 17:81604595-81604595 - TCGA-06-5858-01 COSM3403373 c.1215C>T p.D405D Substitution - coding silent 17:81589010-81589010 - CSCC-41-T COSM4502424 c.612C>T p.I204I Substitution - coding silent 17:81606733-81606733 - 260211 COSM3726072 c.989A>G p.N330S Substitution - Missense 17:81597249-81597249 - YUJUBE COSM5387648 c.624C>T p.C208C Substitution - coding silent 17:81606721-81606721 - TCGA-BC-A10R-01 COSM4758013 c.851G>A p.S284N Substitution - Missense 17:81600411-81600411 - CSCC-32-T COSM4486681 c.308C>T p.P103L Substitution - Missense 17:81613396-81613396 - pfg127T COSM4758011 c.976C>T p.R326C Substitution - Missense 17:81597262-81597262 - TCGA-BR-8360-01 COSM4070689 c.1302C>G p.N434K Substitution - Missense 17:81572068-81572068 - DLD1 COSM2805292 c.1401G>A p.S467S Substitution - coding silent 17:81569064-81569064 - TCGA-AA-A010-01 COSM283341 c.973G>A p.V325I Substitution - Missense 17:81597265-81597265 - PT45 COSM5588474 c.1592C>T p.A531V Substitution - Missense 17:81565582-81565582 - TCGA-HF-7132-01 COSM4070691 c.962G>A p.R321Q Substitution - Missense 17:81597276-81597276 - I2L-P19Ta-Tumor-Biopsy COSM5363984 c.1758T>A p.C586* Substitution - Nonsense 17:81559328-81559328 - PT33 COSM4758011 c.976C>T p.R326C Substitution - Missense 17:81597262-81597262 - 2292384 COSM4610367 c.338A>C p.Y113S Substitution - Missense 17:81613366-81613366 - LC_S25 COSM1189620 c.1782G>T p.Q594H Substitution - Missense 17:81559304-81559304 - TCGA-AD-A5EJ-01 COSM5133199 c.495C>T p.H165H Substitution - coding silent 17:81608763-81608763 - TCGA-A6-2684-01 COSM1303511 c.288C>T p.G96G Substitution - coding silent 17:81613416-81613416 - TCGA-D1-A16X-01 COSM985887 c.1732A>G p.T578A Substitution - Missense 17:81559354-81559354 - TCGA-GF-A6C9-06 COSM4900607 c.1414C>T p.P472S Substitution - Missense 17:81569051-81569051 - C008 COSM5523294 c.1141C>T p.H381Y Substitution - Missense 17:81589084-81589084 - TCGA-AG-A002-01 COSM262457 c.986G>A p.R329Q Substitution - Missense 17:81597252-81597252 - YUOTHO COSM5387650 c.489C>T p.S163S Substitution - coding silent 17:81608769-81608769 - TCGA-F4-6703-01 COSM5172497 c.747delT p.F249fs*88 Deletion - Frameshift 17:81604635-81604635 - RK257_C01 COSM4779284 c.467A>C p.E156A Substitution - Missense 17:81608791-81608791 - BD98T COSM5520753 c.1080C>T p.D360D Substitution - coding silent 17:81596156-81596156 - sysucc-1370T COSM283341 c.973G>A p.V325I Substitution - Missense 17:81597265-81597265 - PAPNNX COSM5005041 c.135G>A p.S45S Substitution - coding silent 17:81622240-81622240 - T3301 COSM4707835 c.1064G>T p.C355F Substitution - Missense 17:81596172-81596172 - TCGA-EE-A3JI-06 COSM3523645 c.1375G>A p.D459N Substitution - Missense 17:81569090-81569090 - TCGA-ED-A4XI-01 COSM4913225 c.185A>T p.K62I Substitution - Missense 17:81622190-81622190 - TCGA-EJ-A65J-01 COSM3388301 c.1426C>T p.R476W Substitution - Missense 17:81569039-81569039 - OSCC-GB_00020111 COSM3712478 c.1561C>G p.L521V Substitution - Missense 17:81567422-81567422 - HX33T COSM3717771 c.1001A>G p.Y334C Substitution - Missense 17:81596235-81596235 - TCGA-AM-5821-01 COSM3756027 c.159C>T p.T53T Substitution - coding silent 17:81622216-81622216 - PD5960a COSM5799642 c.670G>T p.D224Y Substitution - Missense 17:81604712-81604712 - TCGA-18-3409-01 COSM708650 c.22C>T p.R8C Substitution - Missense 17:81629799-81629799 - TCGA-AD-5900-01 COSM3691932 c.583G>A p.E195K Substitution - Missense 17:81606762-81606762 - 08-P8005 COSM4580250 c.303C>T p.G101G Substitution - coding silent 17:81613401-81613401 - PT48 COSM5933634 c.531-8C>T p.? Unknown 17:81606822-81606822 - TCGA-B2-3924-01 COSM473542 c.196T>A p.L66M Substitution - Missense 17:81622179-81622179 - HCT15 COSM2805292 c.1401G>A p.S467S Substitution - coding silent 17:81569064-81569064 - Br27P COSM54430 c.505C>T p.R169W Substitution - Missense 17:81608753-81608753 - TCGA-AZ-4315-01 COSM2805315 c.392G>A p.R131H Substitution - Missense 17:81610253-81610253 - TCGA-E7-A3X6-01 COSM3712478 c.1561C>G p.L521V Substitution - Missense 17:81567422-81567422 - PT33 COSM5943735 c.500delA p.Y167fs*5 Deletion - Frameshift 17:81608758-81608758 - ESO-045 COSM1259391 c.961C>T p.R321* Substitution - Nonsense 17:81597277-81597277 - CHC892T COSM4793980 c.1281+1G>A p.? Unknown 17:81588943-81588943 - Pat_24_B COSM5853794 c.1234G>A p.A412T Substitution - Missense 17:81588991-81588991 - CSCC-42-T COSM4568729 c.1295T>C p.F432S Substitution - Missense 17:81572075-81572075 - HCC27T COSM3717771 c.1001A>G p.Y334C Substitution - Missense 17:81596235-81596235 - HCC52 COSM1610978 c.616A>G p.T206A Substitution - Missense 17:81606729-81606729 - 46M COSM5588474 c.1592C>T p.A531V Substitution - Missense 17:81565582-81565582 - TCGA-C8-A1HJ-01 COSM1480168 c.1819A>C p.R607R Substitution - coding silent 17:81559267-81559267 - AOCS-088-1-0 COSM3712478 c.1561C>G p.L521V Substitution - Missense 17:81567422-81567422 - T263 COSM4707833 c.1098G>T p.K366N Substitution - Missense 17:81596138-81596138 - TCGA-EA-A3QD-01 COSM4821843 c.945C>T p.L315L Substitution - coding silent 17:81597293-81597293 - Pat_60_B COSM5853796 c.602C>T p.P201L Substitution - Missense 17:81606743-81606743 - CHC1756T COSM5348680 c.1326_1327insC p.L443fs*32 Insertion - Frameshift 17:81572043-81572044 - TCGA-D3-A2JH-06 COSM3523651 c.558C>T p.I186I Substitution - coding silent 17:81606787-81606787 - DLD1 COSM2805282 c.1618G>A p.A540T Substitution - Missense 17:81565556-81565556 - 2T COSM3712478 c.1561C>G p.L521V Substitution - Missense 17:81567422-81567422 - CH-109-T2 COSM5650674 c.1558C>T p.P520S Substitution - Missense 17:81567425-81567425 - TCGA-CG-5733-01 COSM4070693 c.629C>T p.P210L Substitution - Missense 17:81606716-81606716 - sysucc-783T COSM5484176 c.1719G>A p.G573G Substitution - coding silent 17:81559367-81559367 - 3N55-VS-3T55 COSM4983715 c.1646G>T p.W549L Substitution - Missense 17:81565528-81565528 - I2L-P19Ta-Tumor-Biopsy COSM5363993 c.229C>A p.L77M Substitution - Missense 17:81613475-81613475 - 587328 COSM1217716 c.270G>C p.E90D Substitution - Missense 17:81613434-81613434 - TCGA-GN-A266-06 COSM3523653 c.235C>T p.P79S Substitution - Missense 17:81613469-81613469 - CSCC-27-T COSM4468021 c.1521C>T p.F507F Substitution - coding silent 17:81567462-81567462 - CHC892T COSM4793980 c.1281+1G>A p.? Unknown 17:81588943-81588943 - PT27 COSM5906062 c.923T>C p.V308A Substitution - Missense 17:81597315-81597315 - I2L-P19Ta-Tumor-Organoid COSM5363984 c.1758T>A p.C586* Substitution - Nonsense 17:81559328-81559328 - CCK81 COSM2805295 c.1340A>G p.Y447C Substitution - Missense 17:81572030-81572030 - TCGA-EE-A3JD-06 COSM4397022 c.1370C>T p.P457L Substitution - Missense 17:81569095-81569095 - YUWIA COSM5387646 c.897T>A p.I299I Substitution - coding silent 17:81600365-81600365 - CAL27 COSM4593714 c.176C>T p.S59F Substitution - Missense 17:81622199-81622199 - STC246 COSM5055882 c.596C>T p.P199L Substitution - Missense 17:81606749-81606749 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.464273;Hs.464333 17qter 606590 2457330|CGAP|BC025930|C/T|non-coding||2413|Validated; 2457331|CGAP|BC025930|A/G|non-coding||2447|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A T IntronicSNV . c.1120+1327T>A 17 79561815 CLL A T Missense p.L66M c.196T>A 17 79589205 RCCC C A IntronicSNV . c.1282-2792G>T 17 79541906 CLL C A Missense p.D314Y c.940G>T 17 79564324 HNSC C A Missense p.L492F c.1476G>T 17 79534533 HNSC C A Missense p.R236L c.707G>T 17 79571701 LUAD C A Synonymous p.S80S c.240G>T 17 79580490 LUAD C - Frameshift p.E538Sfs*55 c.1612delG 17 79532588 HNSC C G Missense p.D346H c.1036G>C 17 79563226 HNSC C G Missense p.E339Q c.1015G>C 17 79563247 BRCA C G Missense p.E481D c.1443G>C 17 79536048 BRCA C T Missense p.D459N c.1375G>A 17 79536116 CM C T Missense p.E195K c.583G>A 17 79573788 CM C T Missense p.E408K c.1222G>A 17 79556029 MM C T Missense p.G384E c.1151G>A 17 79556100 ESCA C T Missense p.G561R c.1681G>A 17 79526431 ESCA C T Missense p.R169W c.505C>T 17 79575779 GBM C T Missense p.V142I c.424G>A 17 79577247 PRAD C T Synonymous p.L521L c.1563G>A 17 79534446 CM G A Missense p.P210L c.629C>T 17 79573742 STAD G A Missense p.P457L c.1370C>T 17 79536121 CM G A Missense p.P595L c.1784C>T 17 79526328 LGG G A Missense p.P79S c.235C>T 17 79580495 CM G A Missense p.P95L c.284C>T 17 79580446 LUAD G A Missense p.R476W c.1426C>T 17 79536065 PRAD G A Nonsense p.Q40* c.118C>T 17 79589283 HNSC G A Nonsense p.R321* c.961C>T 17 79564303 ESCA G A Synonymous p.F347F c.1041C>T 17 79563221 CM G A Synonymous p.G96G c.288C>T 17 79580442 BLCA G A Synonymous p.I186I c.558C>T 17 79573813 CM G A Synonymous p.P158P c.474C>T 17 79575810 UCEC G A Synonymous p.P442P c.1326C>T 17 79539070 CM G C Missense p.I213M c.639C>G 17 79573732 LUAD G C Missense p.S80W c.239C>G 17 79580491 OV G - Frameshift p.Q348Rfs*82 c.1042delC 17 79563220 LUAD GG AA Missense p.P210L c.628_629delinsTT 17 79573742 CM G T IntronicSNV . c.1669+1180C>A 17 79531351 HC T C Missense p.H486R c.1457A>G 17 79534552 LUSC T G Synonymous p.R607R c.1819A>C 17 79526293 BRCA